Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched