Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351595T>ACA369653424CLCN1c.2597T>A (p.Leu866Gln)
c.2421T>A
n.2537T>A
c.2621T>A (p.Leu874Gln)
c.1343T>A (p.Leu448Gln)
c.2171T>A (p.Leu724Gln)
c.2147T>A (p.Leu716Gln)
n.2552T>A
7g.143351595T>CCA369653425CLCN1c.2597T>C (p.Leu866Pro)
c.2421T>C
n.2537T>C
c.2621T>C (p.Leu874Pro)
c.1343T>C (p.Leu448Pro)
c.2171T>C (p.Leu724Pro)
c.2147T>C (p.Leu716Pro)
n.2552T>C
7g.143351595T>GCA369653426CLCN1c.2597T>G (p.Leu866Arg)
c.2421T>G
n.2537T>G
c.2621T>G (p.Leu874Arg)
c.1343T>G (p.Leu448Arg)
c.2171T>G (p.Leu724Arg)
c.2147T>G (p.Leu716Arg)
n.2552T>G
7g.143351596A>CCA458542293CLCN1c.2598A>C (p.Leu866=)
c.2422A>C
n.2538A>C
c.2622A>C (p.Leu874=)
c.1344A>C (p.Leu448=)
c.2172A>C (p.Leu724=)
c.2148A>C (p.Leu716=)
n.2553A>C
7g.143351596A>GCA458542294CLCN1c.2598A>G (p.Leu866=)
c.2422A>G
n.2538A>G
c.2622A>G (p.Leu874=)
c.1344A>G (p.Leu448=)
c.2172A>G (p.Leu724=)
c.2148A>G (p.Leu716=)
n.2553A>G
7g.143351596A>TCA458542295CLCN1c.2598A>T (p.Leu866=)
c.2422A>T
n.2538A>T
c.2622A>T (p.Leu874=)
c.1344A>T (p.Leu448=)
c.2172A>T (p.Leu724=)
c.2148A>T (p.Leu716=)
n.2553A>T
7g.143351597C>ACA369653427CLCN1c.2599C>A (p.Gln867Lys)
c.2423C>A
n.2539C>A
c.2623C>A (p.Gln875Lys)
c.1345C>A (p.Gln449Lys)
c.2173C>A (p.Gln725Lys)
c.2149C>A (p.Gln717Lys)
n.2554C>A
7g.143351597C>GCA369653428CLCN1c.2599C>G (p.Gln867Glu)
c.2423C>G
n.2539C>G
c.2623C>G (p.Gln875Glu)
c.1345C>G (p.Gln449Glu)
c.2173C>G (p.Gln725Glu)
c.2149C>G (p.Gln717Glu)
n.2554C>G
7g.143351597C>TCA369653429CLCN1c.2599C>T (p.Gln867Ter)
c.2423C>T
n.2539C>T
c.2623C>T (p.Gln875Ter)
c.1345C>T (p.Gln449Ter)
c.2173C>T (p.Gln725Ter)
c.2149C>T (p.Gln717Ter)
n.2554C>T
7g.143351598A>CCA369653432CLCN1c.2600A>C (p.Gln867Pro)
c.2424A>C
n.2540A>C
c.2624A>C (p.Gln875Pro)
c.1346A>C (p.Gln449Pro)
c.2174A>C (p.Gln725Pro)
c.2150A>C (p.Gln717Pro)
n.2555A>C
7g.143351598A>GCA369653430CLCN1c.2600A>G (p.Gln867Arg)
c.2424A>G
n.2540A>G
c.2624A>G (p.Gln875Arg)
c.1346A>G (p.Gln449Arg)
c.2174A>G (p.Gln725Arg)
c.2150A>G (p.Gln717Arg)
n.2555A>G
7g.143351598A>TCA369653431CLCN1c.2600A>T (p.Gln867Leu)
c.2424A>T
n.2540A>T
c.2624A>T (p.Gln875Leu)
c.1346A>T (p.Gln449Leu)
c.2174A>T (p.Gln725Leu)
c.2150A>T (p.Gln717Leu)
n.2555A>T
7g.143351599G>ACA458542296CLCN1c.2601G>A (p.Gln867=)
c.2425G>A
n.2541G>A
c.2625G>A (p.Gln875=)
c.1347G>A (p.Gln449=)
c.2175G>A (p.Gln725=)
c.2151G>A (p.Gln717=)
n.2556G>A
7g.143351599G>CCA369653433CLCN1c.2601G>C (p.Gln867His)
c.2425G>C
n.2541G>C
c.2625G>C (p.Gln875His)
c.1347G>C (p.Gln449His)
c.2175G>C (p.Gln725His)
c.2151G>C (p.Gln717His)
n.2556G>C
7g.143351599G>TCA369653434CLCN1c.2601G>T (p.Gln867His)
c.2425G>T
n.2541G>T
c.2625G>T (p.Gln875His)
c.1347G>T (p.Gln449His)
c.2175G>T (p.Gln725His)
c.2151G>T (p.Gln717His)
n.2556G>T
7g.143351600A>CCA369653435CLCN1c.2602A>C (p.Lys868Gln)
c.2426A>C
n.2542A>C
c.2626A>C (p.Lys876Gln)
c.1348A>C (p.Lys450Gln)
c.2176A>C (p.Lys726Gln)
c.2152A>C (p.Lys718Gln)
n.2557A>C
7g.143351600A>GCA369653436CLCN1c.2602A>G (p.Lys868Glu)
c.2426A>G
n.2542A>G
c.2626A>G (p.Lys876Glu)
c.1348A>G (p.Lys450Glu)
c.2176A>G (p.Lys726Glu)
c.2152A>G (p.Lys718Glu)
n.2557A>G
7g.143351600A>TCA369653437CLCN1c.2602A>T (p.Lys868Ter)
c.2426A>T
n.2542A>T
c.2626A>T (p.Lys876Ter)
c.1348A>T (p.Lys450Ter)
c.2176A>T (p.Lys726Ter)
c.2152A>T (p.Lys718Ter)
n.2557A>T
7g.143351601A>CCA369653438CLCN1c.2603A>C (p.Lys868Thr)
c.2427A>C
n.2543A>C
c.2627A>C (p.Lys876Thr)
c.1349A>C (p.Lys450Thr)
c.2177A>C (p.Lys726Thr)
c.2153A>C (p.Lys718Thr)
n.2558A>C
7g.143351601A>GCA369653439CLCN1c.2603A>G (p.Lys868Arg)
c.2427A>G
n.2543A>G
c.2627A>G (p.Lys876Arg)
c.1349A>G (p.Lys450Arg)
c.2177A>G (p.Lys726Arg)
c.2153A>G (p.Lys718Arg)
n.2558A>G
7g.143351601A>TCA369653440CLCN1c.2603A>T (p.Lys868Met)
c.2427A>T
n.2543A>T
c.2627A>T (p.Lys876Met)
c.1349A>T (p.Lys450Met)
c.2177A>T (p.Lys726Met)
c.2153A>T (p.Lys718Met)
n.2558A>T
7g.143351602G>ACA4537752CLCN1c.2604G>A (p.Lys868=)
c.2428G>A
n.2544G>A
c.2628G>A (p.Lys876=)
c.1350G>A (p.Lys450=)
c.2178G>A (p.Lys726=)
c.2154G>A (p.Lys718=)
n.2559G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351602G>CCA369653441CLCN1c.2604G>C (p.Lys868Asn)
c.2428G>C
n.2544G>C
c.2628G>C (p.Lys876Asn)
c.1350G>C (p.Lys450Asn)
c.2178G>C (p.Lys726Asn)
c.2154G>C (p.Lys718Asn)
n.2559G>C
7g.143351602G=CA1748898238CLCN1c.2604G= (p.Lys868=)
c.2428G=
n.2544G=
c.2628G= (p.Lys876=)
c.1350G= (p.Lys450=)
c.2178G= (p.Lys726=)
c.2154G= (p.Lys718=)
n.2559G=
7g.143351602G>TCA369653442CLCN1c.2604G>T (p.Lys868Asn)
c.2428G>T
n.2544G>T
c.2628G>T (p.Lys876Asn)
c.1350G>T (p.Lys450Asn)
c.2178G>T (p.Lys726Asn)
c.2154G>T (p.Lys718Asn)
n.2559G>T
7g.143351603G>ACA4537753CLCN1c.2605G>A (p.Ala869Thr)
c.2429G>A
n.2545G>A
c.2629G>A (p.Ala877Thr)
c.1351G>A (p.Ala451Thr)
c.2179G>A (p.Ala727Thr)
c.2155G>A (p.Ala719Thr)
n.2560G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351603G>CCA369653444CLCN1c.2605G>C (p.Ala869Pro)
c.2429G>C
n.2545G>C
c.2629G>C (p.Ala877Pro)
c.1351G>C (p.Ala451Pro)
c.2179G>C (p.Ala727Pro)
c.2155G>C (p.Ala719Pro)
n.2560G>C
7g.143351603G=CA1748898239CLCN1c.2605G= (p.Ala869=)
c.2429G=
n.2545G=
c.2629G= (p.Ala877=)
c.1351G= (p.Ala451=)
c.2179G= (p.Ala727=)
c.2155G= (p.Ala719=)
n.2560G=
7g.143351603G>TCA369653443CLCN1c.2605G>T (p.Ala869Ser)
c.2429G>T
n.2545G>T
c.2629G>T (p.Ala877Ser)
c.1351G>T (p.Ala451Ser)
c.2179G>T (p.Ala727Ser)
c.2155G>T (p.Ala719Ser)
n.2560G>T
7g.143351604C>ACA369653445CLCN1c.2606C>A (p.Ala869Asp)
c.2430C>A
n.2546C>A
c.2630C>A (p.Ala877Asp)
c.1352C>A (p.Ala451Asp)
c.2180C>A (p.Ala727Asp)
c.2156C>A (p.Ala719Asp)
n.2561C>A
7g.143351604C>GCA369653446CLCN1c.2606C>G (p.Ala869Gly)
c.2430C>G
n.2546C>G
c.2630C>G (p.Ala877Gly)
c.1352C>G (p.Ala451Gly)
c.2180C>G (p.Ala727Gly)
c.2156C>G (p.Ala719Gly)
n.2561C>G
7g.143351604C>TCA369653447CLCN1c.2606C>T (p.Ala869Val)
c.2430C>T
n.2546C>T
c.2630C>T (p.Ala877Val)
c.1352C>T (p.Ala451Val)
c.2180C>T (p.Ala727Val)
c.2156C>T (p.Ala719Val)
n.2561C>T
7g.143351605C>ACA458542297CLCN1c.2607C>A (p.Ala869=)
c.2431C>A
n.2547C>A
c.2631C>A (p.Ala877=)
c.1353C>A (p.Ala451=)
c.2181C>A (p.Ala727=)
c.2157C>A (p.Ala719=)
n.2562C>A
7g.143351605C>GCA458542298CLCN1c.2607C>G (p.Ala869=)
c.2431C>G
n.2547C>G
c.2631C>G (p.Ala877=)
c.1353C>G (p.Ala451=)
c.2181C>G (p.Ala727=)
c.2157C>G (p.Ala719=)
n.2562C>G
7g.143351605C>TCA458542299CLCN1c.2607C>T (p.Ala869=)
c.2431C>T
n.2547C>T
c.2631C>T (p.Ala877=)
c.1353C>T (p.Ala451=)
c.2181C>T (p.Ala727=)
c.2157C>T (p.Ala719=)
n.2562C>T
 ClinVar dbSNP
7g.143351606A=CA1748898240CLCN1c.2608A= (p.Ile870=)
c.2432A=
n.2548A=
c.2632A= (p.Ile878=)
c.1354A= (p.Ile452=)
c.2182A= (p.Ile728=)
c.2158A= (p.Ile720=)
n.2563A=
7g.143351606A>CCA369653448CLCN1c.2608A>C (p.Ile870Leu)
c.2432A>C
n.2548A>C
c.2632A>C (p.Ile878Leu)
c.1354A>C (p.Ile452Leu)
c.2182A>C (p.Ile728Leu)
c.2158A>C (p.Ile720Leu)
n.2563A>C
7g.143351606A>GCA369653449CLCN1c.2608A>G (p.Ile870Val)
c.2432A>G
n.2548A>G
c.2632A>G (p.Ile878Val)
c.1354A>G (p.Ile452Val)
c.2182A>G (p.Ile728Val)
c.2158A>G (p.Ile720Val)
n.2563A>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351606A>TCA369653450CLCN1c.2608A>T (p.Ile870Phe)
c.2432A>T
n.2548A>T
c.2632A>T (p.Ile878Phe)
c.1354A>T (p.Ile452Phe)
c.2182A>T (p.Ile728Phe)
c.2158A>T (p.Ile720Phe)
n.2563A>T
7g.143351607T>ACA369653451CLCN1c.2609T>A (p.Ile870Asn)
c.2433T>A
n.2549T>A
c.2633T>A (p.Ile878Asn)
c.1355T>A (p.Ile452Asn)
c.2183T>A (p.Ile728Asn)
c.2159T>A (p.Ile720Asn)
n.2564T>A
7g.143351607T>CCA369653453CLCN1c.2609T>C (p.Ile870Thr)
c.2433T>C
n.2549T>C
c.2633T>C (p.Ile878Thr)
c.1355T>C (p.Ile452Thr)
c.2183T>C (p.Ile728Thr)
c.2159T>C (p.Ile720Thr)
n.2564T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351607T>GCA369653452CLCN1c.2609T>G (p.Ile870Ser)
c.2433T>G
n.2549T>G
c.2633T>G (p.Ile878Ser)
c.1355T>G (p.Ile452Ser)
c.2183T>G (p.Ile728Ser)
c.2159T>G (p.Ile720Ser)
n.2564T>G
7g.143351607T=CA1748898241CLCN1c.2609T= (p.Ile870=)
c.2433T=
n.2549T=
c.2633T= (p.Ile878=)
c.1355T= (p.Ile452=)
c.2183T= (p.Ile728=)
c.2159T= (p.Ile720=)
n.2564T=
7g.143351608T>ACA458542300CLCN1c.2610T>A (p.Ile870=)
c.2434T>A
n.2550T>A
c.2634T>A (p.Ile878=)
c.1356T>A (p.Ile452=)
c.2184T>A (p.Ile728=)
c.2160T>A (p.Ile720=)
n.2565T>A
 ClinVar dbSNP gnomAD v4
7g.143351608T>CCA458542301CLCN1c.2610T>C (p.Ile870=)
c.2434T>C
n.2550T>C
c.2634T>C (p.Ile878=)
c.1356T>C (p.Ile452=)
c.2184T>C (p.Ile728=)
c.2160T>C (p.Ile720=)
n.2565T>C
 ClinVar
7g.143351608T>GCA369653454CLCN1c.2610T>G (p.Ile870Met)
c.2434T>G
n.2550T>G
c.2634T>G (p.Ile878Met)
c.1356T>G (p.Ile452Met)
c.2184T>G (p.Ile728Met)
c.2160T>G (p.Ile720Met)
n.2565T>G
7g.143351608T=CA1748898242CLCN1c.2610T= (p.Ile870=)
c.2434T=
n.2550T=
c.2634T= (p.Ile878=)
c.1356T= (p.Ile452=)
c.2184T= (p.Ile728=)
c.2160T= (p.Ile720=)
n.2565T=
7g.143351609G>ACA4537754CLCN1c.2611G>A (p.Glu871Lys)
c.2435G>A
n.2551G>A
c.2635G>A (p.Glu879Lys)
c.1357G>A (p.Glu453Lys)
c.2185G>A (p.Glu729Lys)
c.2161G>A (p.Glu721Lys)
n.2566G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351609G>CCA369653455CLCN1c.2611G>C (p.Glu871Gln)
c.2435G>C
n.2551G>C
c.2635G>C (p.Glu879Gln)
c.1357G>C (p.Glu453Gln)
c.2185G>C (p.Glu729Gln)
c.2161G>C (p.Glu721Gln)
n.2566G>C
7g.143351609G=CA1748898243CLCN1c.2611G= (p.Glu871=)
c.2435G=
n.2551G=
c.2635G= (p.Glu879=)
c.1357G= (p.Glu453=)
c.2185G= (p.Glu729=)
c.2161G= (p.Glu721=)
n.2566G=
7g.143351609G>TCA369653456CLCN1c.2611G>T (p.Glu871Ter)
c.2435G>T
n.2551G>T
c.2635G>T (p.Glu879Ter)
c.1357G>T (p.Glu453Ter)
c.2185G>T (p.Glu729Ter)
c.2161G>T (p.Glu721Ter)
n.2566G>T
7g.143351610delCA2740094941CLCN1c.2612del (p.Glu871GlyfsTer?)
c.2436del
n.2552del
c.2636del (p.Glu879GlyfsTer?)
c.1358del (p.Glu453GlyfsTer?)
c.2186del (p.Glu729GlyfsTer?)
c.2162del (p.Glu721GlyfsTer?)
n.2567del
 ClinVar
7g.143351610A>CCA369653457CLCN1c.2612A>C (p.Glu871Ala)
c.2436A>C
n.2552A>C
c.2636A>C (p.Glu879Ala)
c.1358A>C (p.Glu453Ala)
c.2186A>C (p.Glu729Ala)
c.2162A>C (p.Glu721Ala)
n.2567A>C
7g.143351610A>GCA369653459CLCN1c.2612A>G (p.Glu871Gly)
c.2436A>G
n.2552A>G
c.2636A>G (p.Glu879Gly)
c.1358A>G (p.Glu453Gly)
c.2186A>G (p.Glu729Gly)
c.2162A>G (p.Glu721Gly)
n.2567A>G
7g.143351610A>TCA369653458CLCN1c.2612A>T (p.Glu871Val)
c.2436A>T
n.2552A>T
c.2636A>T (p.Glu879Val)
c.1358A>T (p.Glu453Val)
c.2186A>T (p.Glu729Val)
c.2162A>T (p.Glu721Val)
n.2567A>T
7g.143351611G>ACA458542302CLCN1c.2613G>A (p.Glu871=)
c.2437G>A
n.2553G>A
c.2637G>A (p.Glu879=)
c.1359G>A (p.Glu453=)
c.2187G>A (p.Glu729=)
c.2163G>A (p.Glu721=)
n.2568G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351611G>CCA369653460CLCN1c.2613G>C (p.Glu871Asp)
c.2437G>C
n.2553G>C
c.2637G>C (p.Glu879Asp)
c.1359G>C (p.Glu453Asp)
c.2187G>C (p.Glu729Asp)
c.2163G>C (p.Glu721Asp)
n.2568G>C
 gnomAD v4
7g.143351611G=CA1748898244CLCN1c.2613G= (p.Glu871=)
c.2437G=
n.2553G=
c.2637G= (p.Glu879=)
c.1359G= (p.Glu453=)
c.2187G= (p.Glu729=)
c.2163G= (p.Glu721=)
n.2568G=
7g.143351611G>TCA369653461CLCN1c.2613G>T (p.Glu871Asp)
c.2437G>T
n.2553G>T
c.2637G>T (p.Glu879Asp)
c.1359G>T (p.Glu453Asp)
c.2187G>T (p.Glu729Asp)
c.2163G>T (p.Glu721Asp)
n.2568G>T
7g.143351612G>ACA369653462CLCN1c.2614G>A (p.Gly872Arg)
c.2438G>A
n.2554G>A
c.2638G>A (p.Gly880Arg)
c.1360G>A (p.Gly454Arg)
c.2188G>A (p.Gly730Arg)
c.2164G>A (p.Gly722Arg)
n.2569G>A
7g.143351612G>CCA369653463CLCN1c.2614G>C (p.Gly872Arg)
c.2438G>C
n.2554G>C
c.2638G>C (p.Gly880Arg)
c.1360G>C (p.Gly454Arg)
c.2188G>C (p.Gly730Arg)
c.2164G>C (p.Gly722Arg)
n.2569G>C
7g.143351612G>TCA369653464CLCN1c.2614G>T (p.Gly872Trp)
c.2438G>T
n.2554G>T
c.2638G>T (p.Gly880Trp)
c.1360G>T (p.Gly454Trp)
c.2188G>T (p.Gly730Trp)
c.2164G>T (p.Gly722Trp)
n.2569G>T
7g.143351613G>ACA369653465CLCN1c.2615G>A (p.Gly872Glu)
c.2439G>A
n.2555G>A
c.2639G>A (p.Gly880Glu)
c.1361G>A (p.Gly454Glu)
c.2189G>A (p.Gly730Glu)
c.2165G>A (p.Gly722Glu)
n.2570G>A
 ClinVar dbSNP gnomAD v4 COSMIC
7g.143351613G>CCA369653466CLCN1c.2615G>C (p.Gly872Ala)
c.2439G>C
n.2555G>C
c.2639G>C (p.Gly880Ala)
c.1361G>C (p.Gly454Ala)
c.2189G>C (p.Gly730Ala)
c.2165G>C (p.Gly722Ala)
n.2570G>C
7g.143351613G=CA1748898245CLCN1c.2615G= (p.Gly872=)
c.2439G=
n.2555G=
c.2639G= (p.Gly880=)
c.1361G= (p.Gly454=)
c.2189G= (p.Gly730=)
c.2165G= (p.Gly722=)
n.2570G=
7g.143351613G>TCA369653467CLCN1c.2615G>T (p.Gly872Val)
c.2439G>T
n.2555G>T
c.2639G>T (p.Gly880Val)
c.1361G>T (p.Gly454Val)
c.2189G>T (p.Gly730Val)
c.2165G>T (p.Gly722Val)
n.2570G>T
7g.143351614G>ACA168231401CLCN1c.2616G>A (p.Gly872=)
c.2440G>A
n.2556G>A
c.2640G>A (p.Gly880=)
c.1362G>A (p.Gly454=)
c.2190G>A (p.Gly730=)
c.2166G>A (p.Gly722=)
n.2571G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143351614G>CCA458542303CLCN1c.2616G>C (p.Gly872=)
c.2440G>C
n.2556G>C
c.2640G>C (p.Gly880=)
c.1362G>C (p.Gly454=)
c.2190G>C (p.Gly730=)
c.2166G>C (p.Gly722=)
n.2571G>C
 gnomAD v4
7g.143351614G=CA1748898246CLCN1c.2616G= (p.Gly872=)
c.2440G=
n.2556G=
c.2640G= (p.Gly880=)
c.1362G= (p.Gly454=)
c.2190G= (p.Gly730=)
c.2166G= (p.Gly722=)
n.2571G=
7g.143351614G>TCA458542304CLCN1c.2616G>T (p.Gly872=)
c.2440G>T
n.2556G>T
c.2640G>T (p.Gly880=)
c.1362G>T (p.Gly454=)
c.2190G>T (p.Gly730=)
c.2166G>T (p.Gly722=)
n.2571G>T
7g.143351615C>ACA369653468CLCN1c.2617C>A (p.His873Asn)
c.2441C>A
n.2557C>A
c.2641C>A (p.His881Asn)
c.1363C>A (p.His455Asn)
c.2191C>A (p.His731Asn)
c.2167C>A (p.His723Asn)
n.2572C>A
7g.143351615C>GCA369653469CLCN1c.2617C>G (p.His873Asp)
c.2441C>G
n.2557C>G
c.2641C>G (p.His881Asp)
c.1363C>G (p.His455Asp)
c.2191C>G (p.His731Asp)
c.2167C>G (p.His723Asp)
n.2572C>G
7g.143351615C>TCA369653470CLCN1c.2617C>T (p.His873Tyr)
c.2441C>T
n.2557C>T
c.2641C>T (p.His881Tyr)
c.1363C>T (p.His455Tyr)
c.2191C>T (p.His731Tyr)
c.2167C>T (p.His723Tyr)
n.2572C>T
 ClinVar dbSNP gnomAD v4 COSMIC
7g.143351616A>CCA369653473CLCN1c.2618A>C (p.His873Pro)
c.2442A>C
n.2558A>C
c.2642A>C (p.His881Pro)
c.1364A>C (p.His455Pro)
c.2192A>C (p.His731Pro)
c.2168A>C (p.His723Pro)
n.2573A>C
7g.143351616A>GCA369653472CLCN1c.2618A>G (p.His873Arg)
c.2442A>G
n.2558A>G
c.2642A>G (p.His881Arg)
c.1364A>G (p.His455Arg)
c.2192A>G (p.His731Arg)
c.2168A>G (p.His723Arg)
n.2573A>G
7g.143351616A>TCA369653471CLCN1c.2618A>T (p.His873Leu)
c.2442A>T
n.2558A>T
c.2642A>T (p.His881Leu)
c.1364A>T (p.His455Leu)
c.2192A>T (p.His731Leu)
c.2168A>T (p.His723Leu)
n.2573A>T
7g.143351617C>ACA369653474CLCN1c.2619C>A (p.His873Gln)
c.2443C>A
n.2559C>A
c.2643C>A (p.His881Gln)
c.1365C>A (p.His455Gln)
c.2193C>A (p.His731Gln)
c.2169C>A (p.His723Gln)
n.2574C>A
7g.143351617C>GCA369653475CLCN1c.2619C>G (p.His873Gln)
c.2443C>G
n.2559C>G
c.2643C>G (p.His881Gln)
c.1365C>G (p.His455Gln)
c.2193C>G (p.His731Gln)
c.2169C>G (p.His723Gln)
n.2574C>G
7g.143351617C>TCA458542305CLCN1c.2619C>T (p.His873=)
c.2443C>T
n.2559C>T
c.2643C>T (p.His881=)
c.1365C>T (p.His455=)
c.2193C>T (p.His731=)
c.2169C>T (p.His723=)
n.2574C>T
7g.143351618A>CCA369653476CLCN1c.2620A>C (p.Thr874Pro)
c.2444A>C
n.2560A>C
c.2644A>C (p.Thr882Pro)
c.1366A>C (p.Thr456Pro)
c.2194A>C (p.Thr732Pro)
c.2170A>C (p.Thr724Pro)
n.2575A>C
7g.143351618A>GCA369653477CLCN1c.2620A>G (p.Thr874Ala)
c.2444A>G
n.2560A>G
c.2644A>G (p.Thr882Ala)
c.1366A>G (p.Thr456Ala)
c.2194A>G (p.Thr732Ala)
c.2170A>G (p.Thr724Ala)
n.2575A>G
7g.143351618A>TCA369653478CLCN1c.2620A>T (p.Thr874Ser)
c.2444A>T
n.2560A>T
c.2644A>T (p.Thr882Ser)
c.1366A>T (p.Thr456Ser)
c.2194A>T (p.Thr732Ser)
c.2170A>T (p.Thr724Ser)
n.2575A>T
7g.143351619C>ACA369653479CLCN1c.2621C>A (p.Thr874Asn)
c.2445C>A
n.2561C>A
c.2645C>A (p.Thr882Asn)
c.1367C>A (p.Thr456Asn)
c.2195C>A (p.Thr732Asn)
c.2171C>A (p.Thr724Asn)
n.2576C>A
7g.143351619C=CA1748898247CLCN1c.2621C= (p.Thr874=)
c.2445C=
n.2561C=
c.2645C= (p.Thr882=)
c.1367C= (p.Thr456=)
c.2195C= (p.Thr732=)
c.2171C= (p.Thr724=)
n.2576C=
7g.143351619C>GCA4537755CLCN1c.2621C>G (p.Thr874Ser)
c.2445C>G
n.2561C>G
c.2645C>G (p.Thr882Ser)
c.1367C>G (p.Thr456Ser)
c.2195C>G (p.Thr732Ser)
c.2171C>G (p.Thr724Ser)
n.2576C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351619C>TCA369653480CLCN1c.2621C>T (p.Thr874Ile)
c.2445C>T
n.2561C>T
c.2645C>T (p.Thr882Ile)
c.1367C>T (p.Thr456Ile)
c.2195C>T (p.Thr732Ile)
c.2171C>T (p.Thr724Ile)
n.2576C>T
7g.143351620C>ACA4537756CLCN1c.2622C>A (p.Thr874=)
c.2446C>A
n.2562C>A
c.2646C>A (p.Thr882=)
c.1368C>A (p.Thr456=)
c.2196C>A (p.Thr732=)
c.2172C>A (p.Thr724=)
n.2577C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351620C=CA1748898248CLCN1c.2622C= (p.Thr874=)
c.2446C=
n.2562C=
c.2646C= (p.Thr882=)
c.1368C= (p.Thr456=)
c.2196C= (p.Thr732=)
c.2172C= (p.Thr724=)
n.2577C=
7g.143351620C>GCA458542306CLCN1c.2622C>G (p.Thr874=)
c.2446C>G
n.2562C>G
c.2646C>G (p.Thr882=)
c.1368C>G (p.Thr456=)
c.2196C>G (p.Thr732=)
c.2172C>G (p.Thr724=)
n.2577C>G
 ClinVar dbSNP gnomAD v4
7g.143351620C>TCA458542307CLCN1c.2622C>T (p.Thr874=)
c.2446C>T
n.2562C>T
c.2646C>T (p.Thr882=)
c.1368C>T (p.Thr456=)
c.2196C>T (p.Thr732=)
c.2172C>T (p.Thr724=)
n.2577C>T
7g.143351621A=CA1748898249CLCN1c.2623A= (p.Lys875=)
c.2447A=
n.2563A=
c.2647A= (p.Lys883=)
c.1369A= (p.Lys457=)
c.2197A= (p.Lys733=)
c.2173A= (p.Lys725=)
n.2578A=
7g.143351621A>CCA369653481CLCN1c.2623A>C (p.Lys875Gln)
c.2447A>C
n.2563A>C
c.2647A>C (p.Lys883Gln)
c.1369A>C (p.Lys457Gln)
c.2197A>C (p.Lys733Gln)
c.2173A>C (p.Lys725Gln)
n.2578A>C
7g.143351621A>GCA369653482CLCN1c.2623A>G (p.Lys875Glu)
c.2447A>G
n.2563A>G
c.2647A>G (p.Lys883Glu)
c.1369A>G (p.Lys457Glu)
c.2197A>G (p.Lys733Glu)
c.2173A>G (p.Lys725Glu)
n.2578A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351621A>TCA369653483CLCN1c.2623A>T (p.Lys875Ter)
c.2447A>T
n.2563A>T
c.2647A>T (p.Lys883Ter)
c.1369A>T (p.Lys457Ter)
c.2197A>T (p.Lys733Ter)
c.2173A>T (p.Lys725Ter)
n.2578A>T
7g.143351622A>CCA369653486CLCN1c.2624A>C (p.Lys875Thr)
c.2448A>C
n.2564A>C
c.2648A>C (p.Lys883Thr)
c.1370A>C (p.Lys457Thr)
c.2198A>C (p.Lys733Thr)
c.2174A>C (p.Lys725Thr)
n.2579A>C
 gnomAD v4
7g.143351622A>GCA369653485CLCN1c.2624A>G (p.Lys875Arg)
c.2448A>G
n.2564A>G
c.2648A>G (p.Lys883Arg)
c.1370A>G (p.Lys457Arg)
c.2198A>G (p.Lys733Arg)
c.2174A>G (p.Lys725Arg)
n.2579A>G
7g.143351622A>TCA369653484CLCN1c.2624A>T (p.Lys875Met)
c.2448A>T
n.2564A>T
c.2648A>T (p.Lys883Met)
c.1370A>T (p.Lys457Met)
c.2198A>T (p.Lys733Met)
c.2174A>T (p.Lys725Met)
n.2579A>T
7g.143351623G>ACA4537757CLCN1c.2625G>A (p.Lys875=)
c.2449G>A
n.2565G>A
c.2649G>A (p.Lys883=)
c.1371G>A (p.Lys457=)
c.2199G>A (p.Lys733=)
c.2175G>A (p.Lys725=)
n.2580G>A
 ClinVar dbSNP ExAC gnomAD v2
7g.143351623G>CCA369653487CLCN1c.2625G>C (p.Lys875Asn)
c.2449G>C
n.2565G>C
c.2649G>C (p.Lys883Asn)
c.1371G>C (p.Lys457Asn)
c.2199G>C (p.Lys733Asn)
c.2175G>C (p.Lys725Asn)
n.2580G>C
7g.143351623G=CA1748898250CLCN1c.2625G= (p.Lys875=)
c.2449G=
n.2565G=
c.2649G= (p.Lys883=)
c.1371G= (p.Lys457=)
c.2199G= (p.Lys733=)
c.2175G= (p.Lys725=)
n.2580G=
7g.143351623G>TCA369653488CLCN1c.2625G>T (p.Lys875Asn)
c.2449G>T
n.2565G>T
c.2649G>T (p.Lys883Asn)
c.1371G>T (p.Lys457Asn)
c.2199G>T (p.Lys733Asn)
c.2175G>T (p.Lys725Asn)
n.2580G>T
 dbSNP
7g.143351624T>ACA369653489CLCN1c.2626T>A (p.Ser876Thr)
c.2450T>A
n.2566T>A
c.2650T>A (p.Ser884Thr)
c.1372T>A (p.Ser458Thr)
c.2200T>A (p.Ser734Thr)
c.2176T>A (p.Ser726Thr)
n.2581T>A
7g.143351624T>CCA369653490CLCN1c.2626T>C (p.Ser876Pro)
c.2450T>C
n.2566T>C
c.2650T>C (p.Ser884Pro)
c.1372T>C (p.Ser458Pro)
c.2200T>C (p.Ser734Pro)
c.2176T>C (p.Ser726Pro)
n.2581T>C
7g.143351624T>GCA369653491CLCN1c.2626T>G (p.Ser876Ala)
c.2450T>G
n.2566T>G
c.2650T>G (p.Ser884Ala)
c.1372T>G (p.Ser458Ala)
c.2200T>G (p.Ser734Ala)
c.2176T>G (p.Ser726Ala)
n.2581T>G
7g.143351625C>ACA369653492CLCN1c.2627C>A (p.Ser876Tyr)
c.2451C>A
n.2567C>A
c.2651C>A (p.Ser884Tyr)
c.1373C>A (p.Ser458Tyr)
c.2201C>A (p.Ser734Tyr)
c.2177C>A (p.Ser726Tyr)
n.2582C>A
7g.143351625C=CA1748898251CLCN1c.2627C= (p.Ser876=)
c.2451C=
n.2567C=
c.2651C= (p.Ser884=)
c.1373C= (p.Ser458=)
c.2201C= (p.Ser734=)
c.2177C= (p.Ser726=)
n.2582C=
7g.143351625C>GCA369653493CLCN1c.2627C>G (p.Ser876Cys)
c.2451C>G
n.2567C>G
c.2651C>G (p.Ser884Cys)
c.1373C>G (p.Ser458Cys)
c.2201C>G (p.Ser734Cys)
c.2177C>G (p.Ser726Cys)
n.2582C>G
7g.143351625C>TCA369653494CLCN1c.2627C>T (p.Ser876Phe)
c.2451C>T
n.2567C>T
c.2651C>T (p.Ser884Phe)
c.1373C>T (p.Ser458Phe)
c.2201C>T (p.Ser734Phe)
c.2177C>T (p.Ser726Phe)
n.2582C>T
 dbSNP
7g.143351626T>ACA458542310CLCN1c.2628T>A (p.Ser876=)
c.2452T>A
n.2568T>A
c.2652T>A (p.Ser884=)
c.1374T>A (p.Ser458=)
c.2202T>A (p.Ser734=)
c.2178T>A (p.Ser726=)
n.2583T>A
7g.143351626T>CCA458542308CLCN1c.2628T>C (p.Ser876=)
c.2452T>C
n.2568T>C
c.2652T>C (p.Ser884=)
c.1374T>C (p.Ser458=)
c.2202T>C (p.Ser734=)
c.2178T>C (p.Ser726=)
n.2583T>C
7g.143351626T>GCA458542309CLCN1c.2628T>G (p.Ser876=)
c.2452T>G
n.2568T>G
c.2652T>G (p.Ser884=)
c.1374T>G (p.Ser458=)
c.2202T>G (p.Ser734=)
c.2178T>G (p.Ser726=)
n.2583T>G
7g.143351627G>ACA369653495CLCN1c.2629G>A (p.Gly877Arg)
c.2453G>A
n.2569G>A
c.2653G>A (p.Gly885Arg)
c.1375G>A (p.Gly459Arg)
c.2203G>A (p.Gly735Arg)
c.2179G>A (p.Gly727Arg)
n.2584G>A
7g.143351627G>CCA369653496CLCN1c.2629G>C (p.Gly877Arg)
c.2453G>C
n.2569G>C
c.2653G>C (p.Gly885Arg)
c.1375G>C (p.Gly459Arg)
c.2203G>C (p.Gly735Arg)
c.2179G>C (p.Gly727Arg)
n.2584G>C
7g.143351627G>TCA369653497CLCN1c.2629G>T (p.Gly877Trp)
c.2453G>T
n.2569G>T
c.2653G>T (p.Gly885Trp)
c.1375G>T (p.Gly459Trp)
c.2203G>T (p.Gly735Trp)
c.2179G>T (p.Gly727Trp)
n.2584G>T
7g.143351628G>ACA168231410CLCN1c.2630G>A (p.Gly877Glu)
c.2454G>A
n.2570G>A
c.2654G>A (p.Gly885Glu)
c.1376G>A (p.Gly459Glu)
c.2204G>A (p.Gly735Glu)
c.2180G>A (p.Gly727Glu)
n.2585G>A
 dbSNP
7g.143351628G>CCA369653499CLCN1c.2630G>C (p.Gly877Ala)
c.2454G>C
n.2570G>C
c.2654G>C (p.Gly885Ala)
c.1376G>C (p.Gly459Ala)
c.2204G>C (p.Gly735Ala)
c.2180G>C (p.Gly727Ala)
n.2585G>C
7g.143351628G=CA1748898252CLCN1c.2630G= (p.Gly877=)
c.2454G=
n.2570G=
c.2654G= (p.Gly885=)
c.1376G= (p.Gly459=)
c.2204G= (p.Gly735=)
c.2180G= (p.Gly727=)
n.2585G=
7g.143351628G>TCA369653498CLCN1c.2630G>T (p.Gly877Val)
c.2454G>T
n.2570G>T
c.2654G>T (p.Gly885Val)
c.1376G>T (p.Gly459Val)
c.2204G>T (p.Gly735Val)
c.2180G>T (p.Gly727Val)
n.2585G>T
 gnomAD v4
7g.143351629G>ACA458542311CLCN1c.2631G>A (p.Gly877=)
c.2455G>A
n.2571G>A
c.2655G>A (p.Gly885=)
c.1377G>A (p.Gly459=)
c.2205G>A (p.Gly735=)
c.2181G>A (p.Gly727=)
n.2586G>A
7g.143351629G>CCA458542312CLCN1c.2631G>C (p.Gly877=)
c.2455G>C
n.2571G>C
c.2655G>C (p.Gly885=)
c.1377G>C (p.Gly459=)
c.2205G>C (p.Gly735=)
c.2181G>C (p.Gly727=)
n.2586G>C
7g.143351629G>TCA458542313CLCN1c.2631G>T (p.Gly877=)
c.2455G>T
n.2571G>T
c.2655G>T (p.Gly885=)
c.1377G>T (p.Gly459=)
c.2205G>T (p.Gly735=)
c.2181G>T (p.Gly727=)
n.2586G>T
7g.143351629_143351630delinsTTCA645545735CLCN1c.2631_2632delinsTT (p.Val878Leu)
c.2455_2456delinsTT
n.2571_2572delinsTT
c.2655_2656delinsTT (p.Val886Leu)
c.1377_1378delinsTT (p.Val460Leu)
c.2205_2206delinsTT (p.Val736Leu)
c.2181_2182delinsTT (p.Val728Leu)
n.2586_2587delinsTT
 COSMIC
7g.143351630G>ACA369653500CLCN1c.2632G>A (p.Val878Met)
c.2456G>A
n.2572G>A
c.2656G>A (p.Val886Met)
c.1378G>A (p.Val460Met)
c.2206G>A (p.Val736Met)
c.2182G>A (p.Val728Met)
n.2587G>A
 ClinVar dbSNP gnomAD v4
7g.143351630G>CCA369653501CLCN1c.2632G>C (p.Val878Leu)
c.2456G>C
n.2572G>C
c.2656G>C (p.Val886Leu)
c.1378G>C (p.Val460Leu)
c.2206G>C (p.Val736Leu)
c.2182G>C (p.Val728Leu)
n.2587G>C
7g.143351630G=CA1748898253CLCN1c.2632G= (p.Val878=)
c.2456G=
n.2572G=
c.2656G= (p.Val886=)
c.1378G= (p.Val460=)
c.2206G= (p.Val736=)
c.2182G= (p.Val728=)
n.2587G=
7g.143351630G>TCA369653502CLCN1c.2632G>T (p.Val878Leu)
c.2456G>T
n.2572G>T
c.2656G>T (p.Val886Leu)
c.1378G>T (p.Val460Leu)
c.2206G>T (p.Val736Leu)
c.2182G>T (p.Val728Leu)
n.2587G>T
7g.143351631T>ACA369653503CLCN1c.2633T>A (p.Val878Glu)
c.2457T>A
n.2573T>A
c.2657T>A (p.Val886Glu)
c.1379T>A (p.Val460Glu)
c.2207T>A (p.Val736Glu)
c.2183T>A (p.Val728Glu)
n.2588T>A
7g.143351631T>CCA369653504CLCN1c.2633T>C (p.Val878Ala)
c.2457T>C
n.2573T>C
c.2657T>C (p.Val886Ala)
c.1379T>C (p.Val460Ala)
c.2207T>C (p.Val736Ala)
c.2183T>C (p.Val728Ala)
n.2588T>C
7g.143351631T>GCA369653505CLCN1c.2633T>G (p.Val878Gly)
c.2457T>G
n.2573T>G
c.2657T>G (p.Val886Gly)
c.1379T>G (p.Val460Gly)
c.2207T>G (p.Val736Gly)
c.2183T>G (p.Val728Gly)
n.2588T>G
7g.143351632G>ACA458542314CLCN1c.2634G>A (p.Val878=)
c.2458G>A
n.2574G>A
c.2658G>A (p.Val886=)
c.1380G>A (p.Val460=)
c.2208G>A (p.Val736=)
c.2184G>A (p.Val728=)
n.2589G>A
 gnomAD v4
7g.143351632G>CCA458542315CLCN1c.2634G>C (p.Val878=)
c.2458G>C
n.2574G>C
c.2658G>C (p.Val886=)
c.1380G>C (p.Val460=)
c.2208G>C (p.Val736=)
c.2184G>C (p.Val728=)
n.2589G>C
7g.143351632G>TCA458542316CLCN1c.2634G>T (p.Val878=)
c.2458G>T
n.2574G>T
c.2658G>T (p.Val886=)
c.1380G>T (p.Val460=)
c.2208G>T (p.Val736=)
c.2184G>T (p.Val728=)
n.2589G>T
7g.143351633C>ACA369653507CLCN1c.2635C>A (p.Gln879Lys)
c.2459C>A
n.2575C>A
c.2659C>A (p.Gln887Lys)
c.1381C>A (p.Gln461Lys)
c.2209C>A (p.Gln737Lys)
c.2185C>A (p.Gln729Lys)
n.2590C>A
7g.143351633C=CA1748898254CLCN1c.2635C= (p.Gln879=)
c.2459C=
n.2575C=
c.2659C= (p.Gln887=)
c.1381C= (p.Gln461=)
c.2209C= (p.Gln737=)
c.2185C= (p.Gln729=)
n.2590C=
7g.143351633C>GCA369653506CLCN1c.2635C>G (p.Gln879Glu)
c.2459C>G
n.2575C>G
c.2659C>G (p.Gln887Glu)
c.1381C>G (p.Gln461Glu)
c.2209C>G (p.Gln737Glu)
c.2185C>G (p.Gln729Glu)
n.2590C>G
7g.143351633C>TCA16043424CLCN1c.2635C>T (p.Gln879Ter)
c.2459C>T
n.2575C>T
c.2659C>T (p.Gln887Ter)
c.1381C>T (p.Gln461Ter)
c.2209C>T (p.Gln737Ter)
c.2185C>T (p.Gln729Ter)
n.2590C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351634A>CCA369653508CLCN1c.2636A>C (p.Gln879Pro)
c.2460A>C
n.2576A>C
c.2660A>C (p.Gln887Pro)
c.1382A>C (p.Gln461Pro)
c.2210A>C (p.Gln737Pro)
c.2186A>C (p.Gln729Pro)
n.2591A>C
7g.143351634A>GCA369653509CLCN1c.2636A>G (p.Gln879Arg)
c.2460A>G
n.2576A>G
c.2660A>G (p.Gln887Arg)
c.1382A>G (p.Gln461Arg)
c.2210A>G (p.Gln737Arg)
c.2186A>G (p.Gln729Arg)
n.2591A>G
 gnomAD v4
7g.143351634A>TCA369653510CLCN1c.2636A>T (p.Gln879Leu)
c.2460A>T
n.2576A>T
c.2660A>T (p.Gln887Leu)
c.1382A>T (p.Gln461Leu)
c.2210A>T (p.Gln737Leu)
c.2186A>T (p.Gln729Leu)
n.2591A>T
7g.143351635G>ACA458542317CLCN1c.2637G>A (p.Gln879=)
c.2461G>A
n.2577G>A
c.2661G>A (p.Gln887=)
c.1383G>A (p.Gln461=)
c.2211G>A (p.Gln737=)
c.2187G>A (p.Gln729=)
n.2592G>A
7g.143351635G>CCA369653511CLCN1c.2637G>C (p.Gln879His)
c.2461G>C
n.2577G>C
c.2661G>C (p.Gln887His)
c.1383G>C (p.Gln461His)
c.2211G>C (p.Gln737His)
c.2187G>C (p.Gln729His)
n.2592G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351635G=CA1748898255CLCN1c.2637G= (p.Gln879=)
c.2461G=
n.2577G=
c.2661G= (p.Gln887=)
c.1383G= (p.Gln461=)
c.2211G= (p.Gln737=)
c.2187G= (p.Gln729=)
n.2592G=
7g.143351635G>TCA369653512CLCN1c.2637G>T (p.Gln879His)
c.2461G>T
n.2577G>T
c.2661G>T (p.Gln887His)
c.1383G>T (p.Gln461His)
c.2211G>T (p.Gln737His)
c.2187G>T (p.Gln729His)
n.2592G>T
7g.143351636C>ACA369653513CLCN1c.2638C>A (p.Leu880Ile)
c.2462C>A
n.2578C>A
c.2662C>A (p.Leu888Ile)
c.1384C>A (p.Leu462Ile)
c.2212C>A (p.Leu738Ile)
c.2188C>A (p.Leu730Ile)
n.2593C>A
7g.143351636C=CA1748898256CLCN1c.2638C= (p.Leu880=)
c.2462C=
n.2578C=
c.2662C= (p.Leu888=)
c.1384C= (p.Leu462=)
c.2212C= (p.Leu738=)
c.2188C= (p.Leu730=)
n.2593C=
7g.143351636C>GCA369653515CLCN1c.2638C>G (p.Leu880Val)
c.2462C>G
n.2578C>G
c.2662C>G (p.Leu888Val)
c.1384C>G (p.Leu462Val)
c.2212C>G (p.Leu738Val)
c.2188C>G (p.Leu730Val)
n.2593C>G
 dbSNP gnomAD v4
7g.143351636C>TCA369653514CLCN1c.2638C>T (p.Leu880Phe)
c.2462C>T
n.2578C>T
c.2662C>T (p.Leu888Phe)
c.1384C>T (p.Leu462Phe)
c.2212C>T (p.Leu738Phe)
c.2188C>T (p.Leu730Phe)
n.2593C>T
 dbSNP
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.143351637T>ACA369653516CLCN1c.2639T>A (p.Leu880His)
c.2463T>A
n.2579T>A
c.2663T>A (p.Leu888His)
c.1385T>A (p.Leu462His)
c.2213T>A (p.Leu738His)
c.2189T>A (p.Leu730His)
n.2594T>A
7g.143351637T>CCA369653517CLCN1c.2639T>C (p.Leu880Pro)
c.2463T>C
n.2579T>C
c.2663T>C (p.Leu888Pro)
c.1385T>C (p.Leu462Pro)
c.2213T>C (p.Leu738Pro)
c.2189T>C (p.Leu730Pro)
n.2594T>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351637T>GCA369653518CLCN1c.2639T>G (p.Leu880Arg)
c.2463T>G
n.2579T>G
c.2663T>G (p.Leu888Arg)
c.1385T>G (p.Leu462Arg)
c.2213T>G (p.Leu738Arg)
c.2189T>G (p.Leu730Arg)
n.2594T>G
7g.143351637T=CA1748898257CLCN1c.2639T= (p.Leu880=)
c.2463T=
n.2579T=
c.2663T= (p.Leu888=)
c.1385T= (p.Leu462=)
c.2213T= (p.Leu738=)
c.2189T= (p.Leu730=)
n.2594T=
7g.143351638C>ACA458542318CLCN1c.2640C>A (p.Leu880=)
c.2464C>A
n.2580C>A
c.2664C>A (p.Leu888=)
c.1386C>A (p.Leu462=)
c.2214C>A (p.Leu738=)
c.2190C>A (p.Leu730=)
n.2595C>A
7g.143351638C>GCA458542319CLCN1c.2640C>G (p.Leu880=)
c.2464C>G
n.2580C>G
c.2664C>G (p.Leu888=)
c.1386C>G (p.Leu462=)
c.2214C>G (p.Leu738=)
c.2190C>G (p.Leu730=)
n.2595C>G
7g.143351638C>TCA458542320CLCN1c.2640C>T (p.Leu880=)
c.2464C>T
n.2580C>T
c.2664C>T (p.Leu888=)
c.1386C>T (p.Leu462=)
c.2214C>T (p.Leu738=)
c.2190C>T (p.Leu730=)
n.2595C>T
 COSMIC
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

Number of alleles fetched