Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51941211C>ACA250077293ATP7Bc.*1076G>T (n.*1076G>T)
c.*2170G>T (n.*2170G>T)
c.2805G>T (p.Gln935His)
c.3426G>T (p.Gln1142His)
c.3093G>T (p.Gln1031His)
c.3174G>T (p.Gln1058His)
c.3192G>T (p.Gln1064His)
n.3565G>T
n.3789G>T
c.2361G>T (p.Gln787His)
c.2136G>T (p.Gln712His)
c.3231G>T (p.Gln1077His)
c.1204G>T
c.*527G>T (n.*527G>T)
n.4170G>T
n.2771G>T
c.3282G>T (p.Gln1094His)
c.3330G>T (p.Gln1110His)
c.3390G>T (p.Gln1130His)
c.2940G>T (p.Gln980His)
c.1242G>T (p.Gln414His)
c.1059G>T (p.Gln353His)
c.3291G>T (p.Gln1097His)
c.3243G>T (p.Gln1081His)
c.3012G>T (p.Gln1004His)
c.2913G>T (p.Gln971His)
c.2094G>T (p.Gln698His)
n.3645G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51941211C=CA2091559603ATP7Bc.*1076G= (n.*1076G=)
c.*2170G= (n.*2170G=)
c.2805G= (p.Gln935=)
c.3426G= (p.Gln1142=)
c.3093G= (p.Gln1031=)
c.3174G= (p.Gln1058=)
c.3192G= (p.Gln1064=)
n.3565G=
n.3789G=
c.2361G= (p.Gln787=)
c.2136G= (p.Gln712=)
c.3231G= (p.Gln1077=)
c.1204G=
c.*527G= (n.*527G=)
n.4170G=
n.2771G=
c.3282G= (p.Gln1094=)
c.3330G= (p.Gln1110=)
c.3390G= (p.Gln1130=)
c.2940G= (p.Gln980=)
c.1242G= (p.Gln414=)
c.1059G= (p.Gln353=)
c.3291G= (p.Gln1097=)
c.3243G= (p.Gln1081=)
c.3012G= (p.Gln1004=)
c.2913G= (p.Gln971=)
c.2094G= (p.Gln698=)
n.3645G=
13g.51941211C>GCA6988685ATP7Bc.*1076G>C (n.*1076G>C)
c.*2170G>C (n.*2170G>C)
c.2805G>C (p.Gln935His)
c.3426G>C (p.Gln1142His)
c.3093G>C (p.Gln1031His)
c.3174G>C (p.Gln1058His)
c.3192G>C (p.Gln1064His)
n.3565G>C
n.3789G>C
c.2361G>C (p.Gln787His)
c.2136G>C (p.Gln712His)
c.3231G>C (p.Gln1077His)
c.1204G>C
c.*527G>C (n.*527G>C)
n.4170G>C
n.2771G>C
c.3282G>C (p.Gln1094His)
c.3330G>C (p.Gln1110His)
c.3390G>C (p.Gln1130His)
c.2940G>C (p.Gln980His)
c.1242G>C (p.Gln414His)
c.1059G>C (p.Gln353His)
c.3291G>C (p.Gln1097His)
c.3243G>C (p.Gln1081His)
c.3012G>C (p.Gln1004His)
c.2913G>C (p.Gln971His)
c.2094G>C (p.Gln698His)
n.3645G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941211C>TCA483894199ATP7Bc.*1076G>A (n.*1076G>A)
c.*2170G>A (n.*2170G>A)
c.2805G>A (p.Gln935=)
c.3426G>A (p.Gln1142=)
c.3093G>A (p.Gln1031=)
c.3174G>A (p.Gln1058=)
c.3192G>A (p.Gln1064=)
n.3565G>A
n.3789G>A
c.2361G>A (p.Gln787=)
c.2136G>A (p.Gln712=)
c.3231G>A (p.Gln1077=)
c.1204G>A
c.*527G>A (n.*527G>A)
n.4170G>A
n.2771G>A
c.3282G>A (p.Gln1094=)
c.3330G>A (p.Gln1110=)
c.3390G>A (p.Gln1130=)
c.2940G>A (p.Gln980=)
c.1242G>A (p.Gln414=)
c.1059G>A (p.Gln353=)
c.3291G>A (p.Gln1097=)
c.3243G>A (p.Gln1081=)
c.3012G>A (p.Gln1004=)
c.2913G>A (p.Gln971=)
c.2094G>A (p.Gln698=)
n.3645G>A
13g.51941212T>ACA388026776ATP7Bc.*1075A>T (n.*1075A>T)
c.*2169A>T (n.*2169A>T)
c.2804A>T (p.Gln935Leu)
c.3425A>T (p.Gln1142Leu)
c.3092A>T (p.Gln1031Leu)
c.3173A>T (p.Gln1058Leu)
c.3191A>T (p.Gln1064Leu)
n.3564A>T
n.3788A>T
c.2360A>T (p.Gln787Leu)
c.2135A>T (p.Gln712Leu)
c.3230A>T (p.Gln1077Leu)
c.1203A>T
c.*526A>T (n.*526A>T)
n.4169A>T
n.2770A>T
c.3281A>T (p.Gln1094Leu)
c.3329A>T (p.Gln1110Leu)
c.3389A>T (p.Gln1130Leu)
c.2939A>T (p.Gln980Leu)
c.1241A>T (p.Gln414Leu)
c.1058A>T (p.Gln353Leu)
c.3290A>T (p.Gln1097Leu)
c.3242A>T (p.Gln1081Leu)
c.3011A>T (p.Gln1004Leu)
c.2912A>T (p.Gln971Leu)
c.2093A>T (p.Gln698Leu)
n.3644A>T
13g.51941212T>CCA388026777ATP7Bc.*1075A>G (n.*1075A>G)
c.*2169A>G (n.*2169A>G)
c.2804A>G (p.Gln935Arg)
c.3425A>G (p.Gln1142Arg)
c.3092A>G (p.Gln1031Arg)
c.3173A>G (p.Gln1058Arg)
c.3191A>G (p.Gln1064Arg)
n.3564A>G
n.3788A>G
c.2360A>G (p.Gln787Arg)
c.2135A>G (p.Gln712Arg)
c.3230A>G (p.Gln1077Arg)
c.1203A>G
c.*526A>G (n.*526A>G)
n.4169A>G
n.2770A>G
c.3281A>G (p.Gln1094Arg)
c.3329A>G (p.Gln1110Arg)
c.3389A>G (p.Gln1130Arg)
c.2939A>G (p.Gln980Arg)
c.1241A>G (p.Gln414Arg)
c.1058A>G (p.Gln353Arg)
c.3290A>G (p.Gln1097Arg)
c.3242A>G (p.Gln1081Arg)
c.3011A>G (p.Gln1004Arg)
c.2912A>G (p.Gln971Arg)
c.2093A>G (p.Gln698Arg)
n.3644A>G
13g.51941212T>GCA388026778ATP7Bc.*1075A>C (n.*1075A>C)
c.*2169A>C (n.*2169A>C)
c.2804A>C (p.Gln935Pro)
c.3425A>C (p.Gln1142Pro)
c.3092A>C (p.Gln1031Pro)
c.3173A>C (p.Gln1058Pro)
c.3191A>C (p.Gln1064Pro)
n.3564A>C
n.3788A>C
c.2360A>C (p.Gln787Pro)
c.2135A>C (p.Gln712Pro)
c.3230A>C (p.Gln1077Pro)
c.1203A>C
c.*526A>C (n.*526A>C)
n.4169A>C
n.2770A>C
c.3281A>C (p.Gln1094Pro)
c.3329A>C (p.Gln1110Pro)
c.3389A>C (p.Gln1130Pro)
c.2939A>C (p.Gln980Pro)
c.1241A>C (p.Gln414Pro)
c.1058A>C (p.Gln353Pro)
c.3290A>C (p.Gln1097Pro)
c.3242A>C (p.Gln1081Pro)
c.3011A>C (p.Gln1004Pro)
c.2912A>C (p.Gln971Pro)
c.2093A>C (p.Gln698Pro)
n.3644A>C
13g.51941212T=CA2091559606ATP7Bc.*1075A= (n.*1075A=)
c.*2169A= (n.*2169A=)
c.2804A= (p.Gln935=)
c.3425A= (p.Gln1142=)
c.3092A= (p.Gln1031=)
c.3173A= (p.Gln1058=)
c.3191A= (p.Gln1064=)
n.3564A=
n.3788A=
c.2360A= (p.Gln787=)
c.2135A= (p.Gln712=)
c.3230A= (p.Gln1077=)
c.1203A=
c.*526A= (n.*526A=)
n.4169A=
n.2770A=
c.3281A= (p.Gln1094=)
c.3329A= (p.Gln1110=)
c.3389A= (p.Gln1130=)
c.2939A= (p.Gln980=)
c.1241A= (p.Gln414=)
c.1058A= (p.Gln353=)
c.3290A= (p.Gln1097=)
c.3242A= (p.Gln1081=)
c.3011A= (p.Gln1004=)
c.2912A= (p.Gln971=)
c.2093A= (p.Gln698=)
n.3644A=
13g.51941213G>ACA6988686ATP7Bc.*1074C>T (n.*1074C>T)
c.*2168C>T (n.*2168C>T)
c.2803C>T (p.Gln935Ter)
c.3424C>T (p.Gln1142Ter)
c.3091C>T (p.Gln1031Ter)
c.3172C>T (p.Gln1058Ter)
c.3190C>T (p.Gln1064Ter)
n.3563C>T
n.3787C>T
c.2359C>T (p.Gln787Ter)
c.2134C>T (p.Gln712Ter)
c.3229C>T (p.Gln1077Ter)
c.1202C>T
c.*525C>T (n.*525C>T)
n.4168C>T
n.2769C>T
c.3280C>T (p.Gln1094Ter)
c.3328C>T (p.Gln1110Ter)
c.3388C>T (p.Gln1130Ter)
c.2938C>T (p.Gln980Ter)
c.1240C>T (p.Gln414Ter)
c.1057C>T (p.Gln353Ter)
c.3289C>T (p.Gln1097Ter)
c.3241C>T (p.Gln1081Ter)
c.3010C>T (p.Gln1004Ter)
c.2911C>T (p.Gln971Ter)
c.2092C>T (p.Gln698Ter)
n.3643C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941213G>CCA388026781ATP7Bc.*1074C>G (n.*1074C>G)
c.*2168C>G (n.*2168C>G)
c.2803C>G (p.Gln935Glu)
c.3424C>G (p.Gln1142Glu)
c.3091C>G (p.Gln1031Glu)
c.3172C>G (p.Gln1058Glu)
c.3190C>G (p.Gln1064Glu)
n.3563C>G
n.3787C>G
c.2359C>G (p.Gln787Glu)
c.2134C>G (p.Gln712Glu)
c.3229C>G (p.Gln1077Glu)
c.1202C>G
c.*525C>G (n.*525C>G)
n.4168C>G
n.2769C>G
c.3280C>G (p.Gln1094Glu)
c.3328C>G (p.Gln1110Glu)
c.3388C>G (p.Gln1130Glu)
c.2938C>G (p.Gln980Glu)
c.1240C>G (p.Gln414Glu)
c.1057C>G (p.Gln353Glu)
c.3289C>G (p.Gln1097Glu)
c.3241C>G (p.Gln1081Glu)
c.3010C>G (p.Gln1004Glu)
c.2911C>G (p.Gln971Glu)
c.2092C>G (p.Gln698Glu)
n.3643C>G
13g.51941213G=CA2091559609ATP7Bc.*1074C= (n.*1074C=)
c.*2168C= (n.*2168C=)
c.2803C= (p.Gln935=)
c.3424C= (p.Gln1142=)
c.3091C= (p.Gln1031=)
c.3172C= (p.Gln1058=)
c.3190C= (p.Gln1064=)
n.3563C=
n.3787C=
c.2359C= (p.Gln787=)
c.2134C= (p.Gln712=)
c.3229C= (p.Gln1077=)
c.1202C=
c.*525C= (n.*525C=)
n.4168C=
n.2769C=
c.3280C= (p.Gln1094=)
c.3328C= (p.Gln1110=)
c.3388C= (p.Gln1130=)
c.2938C= (p.Gln980=)
c.1240C= (p.Gln414=)
c.1057C= (p.Gln353=)
c.3289C= (p.Gln1097=)
c.3241C= (p.Gln1081=)
c.3010C= (p.Gln1004=)
c.2911C= (p.Gln971=)
c.2092C= (p.Gln698=)
n.3643C=
13g.51941213G>TCA388026779ATP7Bc.*1074C>A (n.*1074C>A)
c.*2168C>A (n.*2168C>A)
c.2803C>A (p.Gln935Lys)
c.3424C>A (p.Gln1142Lys)
c.3091C>A (p.Gln1031Lys)
c.3172C>A (p.Gln1058Lys)
c.3190C>A (p.Gln1064Lys)
n.3563C>A
n.3787C>A
c.2359C>A (p.Gln787Lys)
c.2134C>A (p.Gln712Lys)
c.3229C>A (p.Gln1077Lys)
c.1202C>A
c.*525C>A (n.*525C>A)
n.4168C>A
n.2769C>A
c.3280C>A (p.Gln1094Lys)
c.3328C>A (p.Gln1110Lys)
c.3388C>A (p.Gln1130Lys)
c.2938C>A (p.Gln980Lys)
c.1240C>A (p.Gln414Lys)
c.1057C>A (p.Gln353Lys)
c.3289C>A (p.Gln1097Lys)
c.3241C>A (p.Gln1081Lys)
c.3010C>A (p.Gln1004Lys)
c.2911C>A (p.Gln971Lys)
c.2092C>A (p.Gln698Lys)
n.3643C>A
13g.51941217dupCA250077296ATP7Bc.*1074dup (n.*1074dup)
c.*2168dup (n.*2168dup)
c.2803dup (p.Gln935ProfsTer11)
c.3424dup (p.Gln1142ProfsTer11)
c.3091dup (p.Gln1031ProfsTer11)
c.3172dup (p.Gln1058ProfsTer11)
c.3190dup (p.Gln1064ProfsTer11)
n.3563dup
n.3787dup
c.2359dup (p.Gln787ProfsTer11)
c.2134dup (p.Gln712ProfsTer11)
c.3229dup (p.Gln1077ProfsTer11)
c.1202dup
c.*525dup (n.*525dup)
n.4168dup
n.2769dup
c.3280dup (p.Gln1094ProfsTer11)
c.3328dup (p.Gln1110ProfsTer11)
c.3388dup (p.Gln1130ProfsTer11)
c.2938dup (p.Gln980ProfsTer11)
c.1240dup (p.Gln414ProfsTer11)
c.1057dup (p.Gln353ProfsTer11)
c.3289dup (p.Gln1097ProfsTer11)
c.3241dup (p.Gln1081ProfsTer11)
c.3010dup (p.Gln1004ProfsTer11)
c.2911dup (p.Gln971ProfsTer11)
c.2092dup (p.Gln698ProfsTer11)
n.3643dup
 dbSNP gnomAD v2 gnomAD v4
13g.51941214G>ACA483894216ATP7Bc.*1073C>T (n.*1073C>T)
c.*2167C>T (n.*2167C>T)
c.2802C>T (p.Pro934=)
c.3423C>T (p.Pro1141=)
c.3090C>T (p.Pro1030=)
c.3171C>T (p.Pro1057=)
c.3189C>T (p.Pro1063=)
n.3562C>T
n.3786C>T
c.2358C>T (p.Pro786=)
c.2133C>T (p.Pro711=)
c.3228C>T (p.Pro1076=)
c.1201C>T
c.*524C>T (n.*524C>T)
n.4167C>T
n.2768C>T
c.3279C>T (p.Pro1093=)
c.3327C>T (p.Pro1109=)
c.3387C>T (p.Pro1129=)
c.2937C>T (p.Pro979=)
c.1239C>T (p.Pro413=)
c.1056C>T (p.Pro352=)
c.3288C>T (p.Pro1096=)
c.3240C>T (p.Pro1080=)
c.3009C>T (p.Pro1003=)
c.2910C>T (p.Pro970=)
c.2091C>T (p.Pro697=)
n.3642C>T
13g.51941214G>CCA483894214ATP7Bc.*1073C>G (n.*1073C>G)
c.*2167C>G (n.*2167C>G)
c.2802C>G (p.Pro934=)
c.3423C>G (p.Pro1141=)
c.3090C>G (p.Pro1030=)
c.3171C>G (p.Pro1057=)
c.3189C>G (p.Pro1063=)
n.3562C>G
n.3786C>G
c.2358C>G (p.Pro786=)
c.2133C>G (p.Pro711=)
c.3228C>G (p.Pro1076=)
c.1201C>G
c.*524C>G (n.*524C>G)
n.4167C>G
n.2768C>G
c.3279C>G (p.Pro1093=)
c.3327C>G (p.Pro1109=)
c.3387C>G (p.Pro1129=)
c.2937C>G (p.Pro979=)
c.1239C>G (p.Pro413=)
c.1056C>G (p.Pro352=)
c.3288C>G (p.Pro1096=)
c.3240C>G (p.Pro1080=)
c.3009C>G (p.Pro1003=)
c.2910C>G (p.Pro970=)
c.2091C>G (p.Pro697=)
n.3642C>G
 ClinVar
13g.51941214G>TCA483894213ATP7Bc.*1073C>A (n.*1073C>A)
c.*2167C>A (n.*2167C>A)
c.2802C>A (p.Pro934=)
c.3423C>A (p.Pro1141=)
c.3090C>A (p.Pro1030=)
c.3171C>A (p.Pro1057=)
c.3189C>A (p.Pro1063=)
n.3562C>A
n.3786C>A
c.2358C>A (p.Pro786=)
c.2133C>A (p.Pro711=)
c.3228C>A (p.Pro1076=)
c.1201C>A
c.*524C>A (n.*524C>A)
n.4167C>A
n.2768C>A
c.3279C>A (p.Pro1093=)
c.3327C>A (p.Pro1109=)
c.3387C>A (p.Pro1129=)
c.2937C>A (p.Pro979=)
c.1239C>A (p.Pro413=)
c.1056C>A (p.Pro352=)
c.3288C>A (p.Pro1096=)
c.3240C>A (p.Pro1080=)
c.3009C>A (p.Pro1003=)
c.2910C>A (p.Pro970=)
c.2091C>A (p.Pro697=)
n.3642C>A
 gnomAD v4
13g.51941215G>ACA388026789ATP7Bc.*1072C>T (n.*1072C>T)
c.*2166C>T (n.*2166C>T)
c.2801C>T (p.Pro934Leu)
c.3422C>T (p.Pro1141Leu)
c.3089C>T (p.Pro1030Leu)
c.3170C>T (p.Pro1057Leu)
c.3188C>T (p.Pro1063Leu)
n.3561C>T
n.3785C>T
c.2357C>T (p.Pro786Leu)
c.2132C>T (p.Pro711Leu)
c.3227C>T (p.Pro1076Leu)
c.1200C>T
c.*523C>T (n.*523C>T)
n.4166C>T
n.2767C>T
c.3278C>T (p.Pro1093Leu)
c.3326C>T (p.Pro1109Leu)
c.3386C>T (p.Pro1129Leu)
c.2936C>T (p.Pro979Leu)
c.1238C>T (p.Pro413Leu)
c.1055C>T (p.Pro352Leu)
c.3287C>T (p.Pro1096Leu)
c.3239C>T (p.Pro1080Leu)
c.3008C>T (p.Pro1003Leu)
c.2909C>T (p.Pro970Leu)
c.2090C>T (p.Pro697Leu)
n.3641C>T
 COSMIC
13g.51941215G>CCA6988687ATP7Bc.*1072C>G (n.*1072C>G)
c.*2166C>G (n.*2166C>G)
c.2801C>G (p.Pro934Arg)
c.3422C>G (p.Pro1141Arg)
c.3089C>G (p.Pro1030Arg)
c.3170C>G (p.Pro1057Arg)
c.3188C>G (p.Pro1063Arg)
n.3561C>G
n.3785C>G
c.2357C>G (p.Pro786Arg)
c.2132C>G (p.Pro711Arg)
c.3227C>G (p.Pro1076Arg)
c.1200C>G
c.*523C>G (n.*523C>G)
n.4166C>G
n.2767C>G
c.3278C>G (p.Pro1093Arg)
c.3326C>G (p.Pro1109Arg)
c.3386C>G (p.Pro1129Arg)
c.2936C>G (p.Pro979Arg)
c.1238C>G (p.Pro413Arg)
c.1055C>G (p.Pro352Arg)
c.3287C>G (p.Pro1096Arg)
c.3239C>G (p.Pro1080Arg)
c.3008C>G (p.Pro1003Arg)
c.2909C>G (p.Pro970Arg)
c.2090C>G (p.Pro697Arg)
n.3641C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941215G=CA2091559612ATP7Bc.*1072C= (n.*1072C=)
c.*2166C= (n.*2166C=)
c.2801C= (p.Pro934=)
c.3422C= (p.Pro1141=)
c.3089C= (p.Pro1030=)
c.3170C= (p.Pro1057=)
c.3188C= (p.Pro1063=)
n.3561C=
n.3785C=
c.2357C= (p.Pro786=)
c.2132C= (p.Pro711=)
c.3227C= (p.Pro1076=)
c.1200C=
c.*523C= (n.*523C=)
n.4166C=
n.2767C=
c.3278C= (p.Pro1093=)
c.3326C= (p.Pro1109=)
c.3386C= (p.Pro1129=)
c.2936C= (p.Pro979=)
c.1238C= (p.Pro413=)
c.1055C= (p.Pro352=)
c.3287C= (p.Pro1096=)
c.3239C= (p.Pro1080=)
c.3008C= (p.Pro1003=)
c.2909C= (p.Pro970=)
c.2090C= (p.Pro697=)
n.3641C=
13g.51941215G>TCA388026791ATP7Bc.*1072C>A (n.*1072C>A)
c.*2166C>A (n.*2166C>A)
c.2801C>A (p.Pro934His)
c.3422C>A (p.Pro1141His)
c.3089C>A (p.Pro1030His)
c.3170C>A (p.Pro1057His)
c.3188C>A (p.Pro1063His)
n.3561C>A
n.3785C>A
c.2357C>A (p.Pro786His)
c.2132C>A (p.Pro711His)
c.3227C>A (p.Pro1076His)
c.1200C>A
c.*523C>A (n.*523C>A)
n.4166C>A
n.2767C>A
c.3278C>A (p.Pro1093His)
c.3326C>A (p.Pro1109His)
c.3386C>A (p.Pro1129His)
c.2936C>A (p.Pro979His)
c.1238C>A (p.Pro413His)
c.1055C>A (p.Pro352His)
c.3287C>A (p.Pro1096His)
c.3239C>A (p.Pro1080His)
c.3008C>A (p.Pro1003His)
c.2909C>A (p.Pro970His)
c.2090C>A (p.Pro697His)
n.3641C>A
13g.51941216G>ACA388026792ATP7Bc.*1071C>T (n.*1071C>T)
c.*2165C>T (n.*2165C>T)
c.2800C>T (p.Pro934Ser)
c.3421C>T (p.Pro1141Ser)
c.3088C>T (p.Pro1030Ser)
c.3169C>T (p.Pro1057Ser)
c.3187C>T (p.Pro1063Ser)
n.3560C>T
n.3784C>T
c.2356C>T (p.Pro786Ser)
c.2131C>T (p.Pro711Ser)
c.3226C>T (p.Pro1076Ser)
c.1199C>T
c.*522C>T (n.*522C>T)
n.4165C>T
n.2766C>T
c.3277C>T (p.Pro1093Ser)
c.3325C>T (p.Pro1109Ser)
c.3385C>T (p.Pro1129Ser)
c.2935C>T (p.Pro979Ser)
c.1237C>T (p.Pro413Ser)
c.1054C>T (p.Pro352Ser)
c.3286C>T (p.Pro1096Ser)
c.3238C>T (p.Pro1080Ser)
c.3007C>T (p.Pro1003Ser)
c.2908C>T (p.Pro970Ser)
c.2089C>T (p.Pro697Ser)
n.3640C>T
13g.51941216G>CCA388026794ATP7Bc.*1071C>G (n.*1071C>G)
c.*2165C>G (n.*2165C>G)
c.2800C>G (p.Pro934Ala)
c.3421C>G (p.Pro1141Ala)
c.3088C>G (p.Pro1030Ala)
c.3169C>G (p.Pro1057Ala)
c.3187C>G (p.Pro1063Ala)
n.3560C>G
n.3784C>G
c.2356C>G (p.Pro786Ala)
c.2131C>G (p.Pro711Ala)
c.3226C>G (p.Pro1076Ala)
c.1199C>G
c.*522C>G (n.*522C>G)
n.4165C>G
n.2766C>G
c.3277C>G (p.Pro1093Ala)
c.3325C>G (p.Pro1109Ala)
c.3385C>G (p.Pro1129Ala)
c.2935C>G (p.Pro979Ala)
c.1237C>G (p.Pro413Ala)
c.1054C>G (p.Pro352Ala)
c.3286C>G (p.Pro1096Ala)
c.3238C>G (p.Pro1080Ala)
c.3007C>G (p.Pro1003Ala)
c.2908C>G (p.Pro970Ala)
c.2089C>G (p.Pro697Ala)
n.3640C>G
 dbSNP gnomAD v3 gnomAD v4
13g.51941216G=CA2091559615ATP7Bc.*1071C= (n.*1071C=)
c.*2165C= (n.*2165C=)
c.2800C= (p.Pro934=)
c.3421C= (p.Pro1141=)
c.3088C= (p.Pro1030=)
c.3169C= (p.Pro1057=)
c.3187C= (p.Pro1063=)
n.3560C=
n.3784C=
c.2356C= (p.Pro786=)
c.2131C= (p.Pro711=)
c.3226C= (p.Pro1076=)
c.1199C=
c.*522C= (n.*522C=)
n.4165C=
n.2766C=
c.3277C= (p.Pro1093=)
c.3325C= (p.Pro1109=)
c.3385C= (p.Pro1129=)
c.2935C= (p.Pro979=)
c.1237C= (p.Pro413=)
c.1054C= (p.Pro352=)
c.3286C= (p.Pro1096=)
c.3238C= (p.Pro1080=)
c.3007C= (p.Pro1003=)
c.2908C= (p.Pro970=)
c.2089C= (p.Pro697=)
n.3640C=
13g.51941216G>TCA388026796ATP7Bc.*1071C>A (n.*1071C>A)
c.*2165C>A (n.*2165C>A)
c.2800C>A (p.Pro934Thr)
c.3421C>A (p.Pro1141Thr)
c.3088C>A (p.Pro1030Thr)
c.3169C>A (p.Pro1057Thr)
c.3187C>A (p.Pro1063Thr)
n.3560C>A
n.3784C>A
c.2356C>A (p.Pro786Thr)
c.2131C>A (p.Pro711Thr)
c.3226C>A (p.Pro1076Thr)
c.1199C>A
c.*522C>A (n.*522C>A)
n.4165C>A
n.2766C>A
c.3277C>A (p.Pro1093Thr)
c.3325C>A (p.Pro1109Thr)
c.3385C>A (p.Pro1129Thr)
c.2935C>A (p.Pro979Thr)
c.1237C>A (p.Pro413Thr)
c.1054C>A (p.Pro352Thr)
c.3286C>A (p.Pro1096Thr)
c.3238C>A (p.Pro1080Thr)
c.3007C>A (p.Pro1003Thr)
c.2908C>A (p.Pro970Thr)
c.2089C>A (p.Pro697Thr)
n.3640C>A
13g.51941217G>ACA6988688ATP7Bc.*1070C>T (n.*1070C>T)
c.*2164C>T (n.*2164C>T)
c.2799C>T (p.Val933=)
c.3420C>T (p.Val1140=)
c.3087C>T (p.Val1029=)
c.3168C>T (p.Val1056=)
c.3186C>T (p.Val1062=)
n.3559C>T
n.3783C>T
c.2355C>T (p.Val785=)
c.2130C>T (p.Val710=)
c.3225C>T (p.Val1075=)
c.1198C>T
c.*521C>T (n.*521C>T)
n.4164C>T
n.2765C>T
c.3276C>T (p.Val1092=)
c.3324C>T (p.Val1108=)
c.3384C>T (p.Val1128=)
c.2934C>T (p.Val978=)
c.1236C>T (p.Val412=)
c.1053C>T (p.Val351=)
c.3285C>T (p.Val1095=)
c.3237C>T (p.Val1079=)
c.3006C>T (p.Val1002=)
c.2907C>T (p.Val969=)
c.2088C>T (p.Val696=)
n.3639C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941217G>CCA483894228ATP7Bc.*1070C>G (n.*1070C>G)
c.*2164C>G (n.*2164C>G)
c.2799C>G (p.Val933=)
c.3420C>G (p.Val1140=)
c.3087C>G (p.Val1029=)
c.3168C>G (p.Val1056=)
c.3186C>G (p.Val1062=)
n.3559C>G
n.3783C>G
c.2355C>G (p.Val785=)
c.2130C>G (p.Val710=)
c.3225C>G (p.Val1075=)
c.1198C>G
c.*521C>G (n.*521C>G)
n.4164C>G
n.2765C>G
c.3276C>G (p.Val1092=)
c.3324C>G (p.Val1108=)
c.3384C>G (p.Val1128=)
c.2934C>G (p.Val978=)
c.1236C>G (p.Val412=)
c.1053C>G (p.Val351=)
c.3285C>G (p.Val1095=)
c.3237C>G (p.Val1079=)
c.3006C>G (p.Val1002=)
c.2907C>G (p.Val969=)
c.2088C>G (p.Val696=)
n.3639C>G
13g.51941217G=CA2091559618ATP7Bc.*1070C= (n.*1070C=)
c.*2164C= (n.*2164C=)
c.2799C= (p.Val933=)
c.3420C= (p.Val1140=)
c.3087C= (p.Val1029=)
c.3168C= (p.Val1056=)
c.3186C= (p.Val1062=)
n.3559C=
n.3783C=
c.2355C= (p.Val785=)
c.2130C= (p.Val710=)
c.3225C= (p.Val1075=)
c.1198C=
c.*521C= (n.*521C=)
n.4164C=
n.2765C=
c.3276C= (p.Val1092=)
c.3324C= (p.Val1108=)
c.3384C= (p.Val1128=)
c.2934C= (p.Val978=)
c.1236C= (p.Val412=)
c.1053C= (p.Val351=)
c.3285C= (p.Val1095=)
c.3237C= (p.Val1079=)
c.3006C= (p.Val1002=)
c.2907C= (p.Val969=)
c.2088C= (p.Val696=)
n.3639C=
13g.51941217G>TCA483894226ATP7Bc.*1070C>A (n.*1070C>A)
c.*2164C>A (n.*2164C>A)
c.2799C>A (p.Val933=)
c.3420C>A (p.Val1140=)
c.3087C>A (p.Val1029=)
c.3168C>A (p.Val1056=)
c.3186C>A (p.Val1062=)
n.3559C>A
n.3783C>A
c.2355C>A (p.Val785=)
c.2130C>A (p.Val710=)
c.3225C>A (p.Val1075=)
c.1198C>A
c.*521C>A (n.*521C>A)
n.4164C>A
n.2765C>A
c.3276C>A (p.Val1092=)
c.3324C>A (p.Val1108=)
c.3384C>A (p.Val1128=)
c.2934C>A (p.Val978=)
c.1236C>A (p.Val412=)
c.1053C>A (p.Val351=)
c.3285C>A (p.Val1095=)
c.3237C>A (p.Val1079=)
c.3006C>A (p.Val1002=)
c.2907C>A (p.Val969=)
c.2088C>A (p.Val696=)
n.3639C>A
13g.51941218delCA2695218713ATP7Bc.*1069del (n.*1069del)
c.*2163del (n.*2163del)
c.2798del (p.Val933AlafsTer8)
c.3419del (p.Val1140AlafsTer8)
c.3086del (p.Val1029AlafsTer8)
c.3167del (p.Val1056AlafsTer8)
c.3185del (p.Val1062AlafsTer8)
n.3558del
n.3782del
c.2354del (p.Val785AlafsTer8)
c.2129del (p.Val710AlafsTer8)
c.3224del (p.Val1075AlafsTer8)
c.1197del
c.*520del (n.*520del)
n.4163del
n.2764del
c.3275del (p.Val1092AlafsTer8)
c.3323del (p.Val1108AlafsTer8)
c.3383del (p.Val1128AlafsTer8)
c.2933del (p.Val978AlafsTer8)
c.1235del (p.Val412AlafsTer8)
c.1052del (p.Val351AlafsTer8)
c.3284del (p.Val1095AlafsTer8)
c.3236del (p.Val1079AlafsTer8)
c.3005del (p.Val1002AlafsTer8)
c.2906del (p.Val969AlafsTer8)
c.2087del (p.Val696AlafsTer8)
n.3638del
13g.51941218A=CA2018046968ATP7Bc.*1069T= (n.*1069T=)
c.*2163T= (n.*2163T=)
c.2798T= (p.Val933=)
c.3419T= (p.Val1140=)
c.3086T= (p.Val1029=)
c.3167T= (p.Val1056=)
c.3185T= (p.Val1062=)
n.3558T=
n.3782T=
c.2354T= (p.Val785=)
c.2129T= (p.Val710=)
c.3224T= (p.Val1075=)
c.1197T=
c.*520T= (n.*520T=)
n.4163T=
n.2764T=
c.3275T= (p.Val1092=)
c.3323T= (p.Val1108=)
c.3383T= (p.Val1128=)
c.2933T= (p.Val978=)
c.1235T= (p.Val412=)
c.1052T= (p.Val351=)
c.3284T= (p.Val1095=)
c.3236T= (p.Val1079=)
c.3005T= (p.Val1002=)
c.2906T= (p.Val969=)
c.2087T= (p.Val696=)
n.3638T=
13g.51941218A>CCA388026798ATP7Bc.*1069T>G (n.*1069T>G)
c.*2163T>G (n.*2163T>G)
c.2798T>G (p.Val933Gly)
c.3419T>G (p.Val1140Gly)
c.3086T>G (p.Val1029Gly)
c.3167T>G (p.Val1056Gly)
c.3185T>G (p.Val1062Gly)
n.3558T>G
n.3782T>G
c.2354T>G (p.Val785Gly)
c.2129T>G (p.Val710Gly)
c.3224T>G (p.Val1075Gly)
c.1197T>G
c.*520T>G (n.*520T>G)
n.4163T>G
n.2764T>G
c.3275T>G (p.Val1092Gly)
c.3323T>G (p.Val1108Gly)
c.3383T>G (p.Val1128Gly)
c.2933T>G (p.Val978Gly)
c.1235T>G (p.Val412Gly)
c.1052T>G (p.Val351Gly)
c.3284T>G (p.Val1095Gly)
c.3236T>G (p.Val1079Gly)
c.3005T>G (p.Val1002Gly)
c.2906T>G (p.Val969Gly)
c.2087T>G (p.Val696Gly)
n.3638T>G
13g.51941218A>GCA145685ATP7Bc.*1069T>C (n.*1069T>C)
c.*2163T>C (n.*2163T>C)
c.2798T>C (p.Val933Ala)
c.3419T>C (p.Val1140Ala)
c.3086T>C (p.Val1029Ala)
c.3167T>C (p.Val1056Ala)
c.3185T>C (p.Val1062Ala)
n.3558T>C
n.3782T>C
c.2354T>C (p.Val785Ala)
c.2129T>C (p.Val710Ala)
c.3224T>C (p.Val1075Ala)
c.1197T>C
c.*520T>C (n.*520T>C)
n.4163T>C
n.2764T>C
c.3275T>C (p.Val1092Ala)
c.3323T>C (p.Val1108Ala)
c.3383T>C (p.Val1128Ala)
c.2933T>C (p.Val978Ala)
c.1235T>C (p.Val412Ala)
c.1052T>C (p.Val351Ala)
c.3284T>C (p.Val1095Ala)
c.3236T>C (p.Val1079Ala)
c.3005T>C (p.Val1002Ala)
c.2906T>C (p.Val969Ala)
c.2087T>C (p.Val696Ala)
n.3638T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941218A>TCA388026801ATP7Bc.*1069T>A (n.*1069T>A)
c.*2163T>A (n.*2163T>A)
c.2798T>A (p.Val933Asp)
c.3419T>A (p.Val1140Asp)
c.3086T>A (p.Val1029Asp)
c.3167T>A (p.Val1056Asp)
c.3185T>A (p.Val1062Asp)
n.3558T>A
n.3782T>A
c.2354T>A (p.Val785Asp)
c.2129T>A (p.Val710Asp)
c.3224T>A (p.Val1075Asp)
c.1197T>A
c.*520T>A (n.*520T>A)
n.4163T>A
n.2764T>A
c.3275T>A (p.Val1092Asp)
c.3323T>A (p.Val1108Asp)
c.3383T>A (p.Val1128Asp)
c.2933T>A (p.Val978Asp)
c.1235T>A (p.Val412Asp)
c.1052T>A (p.Val351Asp)
c.3284T>A (p.Val1095Asp)
c.3236T>A (p.Val1079Asp)
c.3005T>A (p.Val1002Asp)
c.2906T>A (p.Val969Asp)
c.2087T>A (p.Val696Asp)
n.3638T>A
 dbSNP gnomAD v3 gnomAD v4
13g.51941219C>ACA388026806ATP7Bc.*1068G>T (n.*1068G>T)
c.*2162G>T (n.*2162G>T)
c.2797G>T (p.Val933Phe)
c.3418G>T (p.Val1140Phe)
c.3085G>T (p.Val1029Phe)
c.3166G>T (p.Val1056Phe)
c.3184G>T (p.Val1062Phe)
n.3557G>T
n.3781G>T
c.2353G>T (p.Val785Phe)
c.2128G>T (p.Val710Phe)
c.3223G>T (p.Val1075Phe)
c.1196G>T
c.*519G>T (n.*519G>T)
n.4162G>T
n.2763G>T
c.3274G>T (p.Val1092Phe)
c.3322G>T (p.Val1108Phe)
c.3382G>T (p.Val1128Phe)
c.2932G>T (p.Val978Phe)
c.1234G>T (p.Val412Phe)
c.1051G>T (p.Val351Phe)
c.3283G>T (p.Val1095Phe)
c.3235G>T (p.Val1079Phe)
c.3004G>T (p.Val1002Phe)
c.2905G>T (p.Val969Phe)
c.2086G>T (p.Val696Phe)
n.3637G>T
13g.51941219C=CA2091559624ATP7Bc.*1068G= (n.*1068G=)
c.*2162G= (n.*2162G=)
c.2797G= (p.Val933=)
c.3418G= (p.Val1140=)
c.3085G= (p.Val1029=)
c.3166G= (p.Val1056=)
c.3184G= (p.Val1062=)
n.3557G=
n.3781G=
c.2353G= (p.Val785=)
c.2128G= (p.Val710=)
c.3223G= (p.Val1075=)
c.1196G=
c.*519G= (n.*519G=)
n.4162G=
n.2763G=
c.3274G= (p.Val1092=)
c.3322G= (p.Val1108=)
c.3382G= (p.Val1128=)
c.2932G= (p.Val978=)
c.1234G= (p.Val412=)
c.1051G= (p.Val351=)
c.3283G= (p.Val1095=)
c.3235G= (p.Val1079=)
c.3004G= (p.Val1002=)
c.2905G= (p.Val969=)
c.2086G= (p.Val696=)
n.3637G=
13g.51941219C>GCA388026807ATP7Bc.*1068G>C (n.*1068G>C)
c.*2162G>C (n.*2162G>C)
c.2797G>C (p.Val933Leu)
c.3418G>C (p.Val1140Leu)
c.3085G>C (p.Val1029Leu)
c.3166G>C (p.Val1056Leu)
c.3184G>C (p.Val1062Leu)
n.3557G>C
n.3781G>C
c.2353G>C (p.Val785Leu)
c.2128G>C (p.Val710Leu)
c.3223G>C (p.Val1075Leu)
c.1196G>C
c.*519G>C (n.*519G>C)
n.4162G>C
n.2763G>C
c.3274G>C (p.Val1092Leu)
c.3322G>C (p.Val1108Leu)
c.3382G>C (p.Val1128Leu)
c.2932G>C (p.Val978Leu)
c.1234G>C (p.Val412Leu)
c.1051G>C (p.Val351Leu)
c.3283G>C (p.Val1095Leu)
c.3235G>C (p.Val1079Leu)
c.3004G>C (p.Val1002Leu)
c.2905G>C (p.Val969Leu)
c.2086G>C (p.Val696Leu)
n.3637G>C
13g.51941219C>TCA388026812ATP7Bc.*1068G>A (n.*1068G>A)
c.*2162G>A (n.*2162G>A)
c.2797G>A (p.Val933Ile)
c.3418G>A (p.Val1140Ile)
c.3085G>A (p.Val1029Ile)
c.3166G>A (p.Val1056Ile)
c.3184G>A (p.Val1062Ile)
n.3557G>A
n.3781G>A
c.2353G>A (p.Val785Ile)
c.2128G>A (p.Val710Ile)
c.3223G>A (p.Val1075Ile)
c.1196G>A
c.*519G>A (n.*519G>A)
n.4162G>A
n.2763G>A
c.3274G>A (p.Val1092Ile)
c.3322G>A (p.Val1108Ile)
c.3382G>A (p.Val1128Ile)
c.2932G>A (p.Val978Ile)
c.1234G>A (p.Val412Ile)
c.1051G>A (p.Val351Ile)
c.3283G>A (p.Val1095Ile)
c.3235G>A (p.Val1079Ile)
c.3004G>A (p.Val1002Ile)
c.2905G>A (p.Val969Ile)
c.2086G>A (p.Val696Ile)
n.3637G>A
 ClinVar dbSNP gnomAD v4
13g.51941220T>ACA483894237ATP7Bc.*1067A>T (n.*1067A>T)
c.*2161A>T (n.*2161A>T)
c.2796A>T (p.Ala932=)
c.3417A>T (p.Ala1139=)
c.3084A>T (p.Ala1028=)
c.3165A>T (p.Ala1055=)
c.3183A>T (p.Ala1061=)
n.3556A>T
n.3780A>T
c.2352A>T (p.Ala784=)
c.2127A>T (p.Ala709=)
c.3222A>T (p.Ala1074=)
c.1195A>T
c.*518A>T (n.*518A>T)
n.4161A>T
n.2762A>T
c.3273A>T (p.Ala1091=)
c.3321A>T (p.Ala1107=)
c.3381A>T (p.Ala1127=)
c.2931A>T (p.Ala977=)
c.1233A>T (p.Ala411=)
c.1050A>T (p.Ala350=)
c.3282A>T (p.Ala1094=)
c.3234A>T (p.Ala1078=)
c.3003A>T (p.Ala1001=)
c.2904A>T (p.Ala968=)
c.2085A>T (p.Ala695=)
n.3636A>T
13g.51941220T>CCA483894238ATP7Bc.*1067A>G (n.*1067A>G)
c.*2161A>G (n.*2161A>G)
c.2796A>G (p.Ala932=)
c.3417A>G (p.Ala1139=)
c.3084A>G (p.Ala1028=)
c.3165A>G (p.Ala1055=)
c.3183A>G (p.Ala1061=)
n.3556A>G
n.3780A>G
c.2352A>G (p.Ala784=)
c.2127A>G (p.Ala709=)
c.3222A>G (p.Ala1074=)
c.1195A>G
c.*518A>G (n.*518A>G)
n.4161A>G
n.2762A>G
c.3273A>G (p.Ala1091=)
c.3321A>G (p.Ala1107=)
c.3381A>G (p.Ala1127=)
c.2931A>G (p.Ala977=)
c.1233A>G (p.Ala411=)
c.1050A>G (p.Ala350=)
c.3282A>G (p.Ala1094=)
c.3234A>G (p.Ala1078=)
c.3003A>G (p.Ala1001=)
c.2904A>G (p.Ala968=)
c.2085A>G (p.Ala695=)
n.3636A>G
 gnomAD v4
13g.51941220T>GCA6988689ATP7Bc.*1067A>C (n.*1067A>C)
c.*2161A>C (n.*2161A>C)
c.2796A>C (p.Ala932=)
c.3417A>C (p.Ala1139=)
c.3084A>C (p.Ala1028=)
c.3165A>C (p.Ala1055=)
c.3183A>C (p.Ala1061=)
n.3556A>C
n.3780A>C
c.2352A>C (p.Ala784=)
c.2127A>C (p.Ala709=)
c.3222A>C (p.Ala1074=)
c.1195A>C
c.*518A>C (n.*518A>C)
n.4161A>C
n.2762A>C
c.3273A>C (p.Ala1091=)
c.3321A>C (p.Ala1107=)
c.3381A>C (p.Ala1127=)
c.2931A>C (p.Ala977=)
c.1233A>C (p.Ala411=)
c.1050A>C (p.Ala350=)
c.3282A>C (p.Ala1094=)
c.3234A>C (p.Ala1078=)
c.3003A>C (p.Ala1001=)
c.2904A>C (p.Ala968=)
c.2085A>C (p.Ala695=)
n.3636A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941220T=CA2091559629ATP7Bc.*1067A= (n.*1067A=)
c.*2161A= (n.*2161A=)
c.2796A= (p.Ala932=)
c.3417A= (p.Ala1139=)
c.3084A= (p.Ala1028=)
c.3165A= (p.Ala1055=)
c.3183A= (p.Ala1061=)
n.3556A=
n.3780A=
c.2352A= (p.Ala784=)
c.2127A= (p.Ala709=)
c.3222A= (p.Ala1074=)
c.1195A=
c.*518A= (n.*518A=)
n.4161A=
n.2762A=
c.3273A= (p.Ala1091=)
c.3321A= (p.Ala1107=)
c.3381A= (p.Ala1127=)
c.2931A= (p.Ala977=)
c.1233A= (p.Ala411=)
c.1050A= (p.Ala350=)
c.3282A= (p.Ala1094=)
c.3234A= (p.Ala1078=)
c.3003A= (p.Ala1001=)
c.2904A= (p.Ala968=)
c.2085A= (p.Ala695=)
n.3636A=
13g.51941221G>ACA388026815ATP7Bc.*1066C>T (n.*1066C>T)
c.*2160C>T (n.*2160C>T)
c.2795C>T (p.Ala932Val)
c.3416C>T (p.Ala1139Val)
c.3083C>T (p.Ala1028Val)
c.3164C>T (p.Ala1055Val)
c.3182C>T (p.Ala1061Val)
n.3555C>T
n.3779C>T
c.2351C>T (p.Ala784Val)
c.2126C>T (p.Ala709Val)
c.3221C>T (p.Ala1074Val)
c.1194C>T
c.*517C>T (n.*517C>T)
n.4160C>T
n.2761C>T
c.3272C>T (p.Ala1091Val)
c.3320C>T (p.Ala1107Val)
c.3380C>T (p.Ala1127Val)
c.2930C>T (p.Ala977Val)
c.1232C>T (p.Ala411Val)
c.1049C>T (p.Ala350Val)
c.3281C>T (p.Ala1094Val)
c.3233C>T (p.Ala1078Val)
c.3002C>T (p.Ala1001Val)
c.2903C>T (p.Ala968Val)
c.2084C>T (p.Ala695Val)
n.3635C>T
13g.51941221G>CCA6988690ATP7Bc.*1066C>G (n.*1066C>G)
c.*2160C>G (n.*2160C>G)
c.2795C>G (p.Ala932Gly)
c.3416C>G (p.Ala1139Gly)
c.3083C>G (p.Ala1028Gly)
c.3164C>G (p.Ala1055Gly)
c.3182C>G (p.Ala1061Gly)
n.3555C>G
n.3779C>G
c.2351C>G (p.Ala784Gly)
c.2126C>G (p.Ala709Gly)
c.3221C>G (p.Ala1074Gly)
c.1194C>G
c.*517C>G (n.*517C>G)
n.4160C>G
n.2761C>G
c.3272C>G (p.Ala1091Gly)
c.3320C>G (p.Ala1107Gly)
c.3380C>G (p.Ala1127Gly)
c.2930C>G (p.Ala977Gly)
c.1232C>G (p.Ala411Gly)
c.1049C>G (p.Ala350Gly)
c.3281C>G (p.Ala1094Gly)
c.3233C>G (p.Ala1078Gly)
c.3002C>G (p.Ala1001Gly)
c.2903C>G (p.Ala968Gly)
c.2084C>G (p.Ala695Gly)
n.3635C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941221G=CA2091559630ATP7Bc.*1066C= (n.*1066C=)
c.*2160C= (n.*2160C=)
c.2795C= (p.Ala932=)
c.3416C= (p.Ala1139=)
c.3083C= (p.Ala1028=)
c.3164C= (p.Ala1055=)
c.3182C= (p.Ala1061=)
n.3555C=
n.3779C=
c.2351C= (p.Ala784=)
c.2126C= (p.Ala709=)
c.3221C= (p.Ala1074=)
c.1194C=
c.*517C= (n.*517C=)
n.4160C=
n.2761C=
c.3272C= (p.Ala1091=)
c.3320C= (p.Ala1107=)
c.3380C= (p.Ala1127=)
c.2930C= (p.Ala977=)
c.1232C= (p.Ala411=)
c.1049C= (p.Ala350=)
c.3281C= (p.Ala1094=)
c.3233C= (p.Ala1078=)
c.3002C= (p.Ala1001=)
c.2903C= (p.Ala968=)
c.2084C= (p.Ala695=)
n.3635C=
13g.51941221G>TCA6988691ATP7Bc.*1066C>A (n.*1066C>A)
c.*2160C>A (n.*2160C>A)
c.2795C>A (p.Ala932Glu)
c.3416C>A (p.Ala1139Glu)
c.3083C>A (p.Ala1028Glu)
c.3164C>A (p.Ala1055Glu)
c.3182C>A (p.Ala1061Glu)
n.3555C>A
n.3779C>A
c.2351C>A (p.Ala784Glu)
c.2126C>A (p.Ala709Glu)
c.3221C>A (p.Ala1074Glu)
c.1194C>A
c.*517C>A (n.*517C>A)
n.4160C>A
n.2761C>A
c.3272C>A (p.Ala1091Glu)
c.3320C>A (p.Ala1107Glu)
c.3380C>A (p.Ala1127Glu)
c.2930C>A (p.Ala977Glu)
c.1232C>A (p.Ala411Glu)
c.1049C>A (p.Ala350Glu)
c.3281C>A (p.Ala1094Glu)
c.3233C>A (p.Ala1078Glu)
c.3002C>A (p.Ala1001Glu)
c.2903C>A (p.Ala968Glu)
c.2084C>A (p.Ala695Glu)
n.3635C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941222C>ACA388026822ATP7Bc.*1065G>T (n.*1065G>T)
c.*2159G>T (n.*2159G>T)
c.2794G>T (p.Ala932Ser)
c.3415G>T (p.Ala1139Ser)
c.3082G>T (p.Ala1028Ser)
c.3163G>T (p.Ala1055Ser)
c.3181G>T (p.Ala1061Ser)
n.3554G>T
n.3778G>T
c.2350G>T (p.Ala784Ser)
c.2125G>T (p.Ala709Ser)
c.3220G>T (p.Ala1074Ser)
c.1193G>T
c.*516G>T (n.*516G>T)
n.4159G>T
n.2760G>T
c.3271G>T (p.Ala1091Ser)
c.3319G>T (p.Ala1107Ser)
c.3379G>T (p.Ala1127Ser)
c.2929G>T (p.Ala977Ser)
c.1231G>T (p.Ala411Ser)
c.1048G>T (p.Ala350Ser)
c.3280G>T (p.Ala1094Ser)
c.3232G>T (p.Ala1078Ser)
c.3001G>T (p.Ala1001Ser)
c.2902G>T (p.Ala968Ser)
c.2083G>T (p.Ala695Ser)
n.3634G>T
13g.51941222C>GCA388026824ATP7Bc.*1065G>C (n.*1065G>C)
c.*2159G>C (n.*2159G>C)
c.2794G>C (p.Ala932Pro)
c.3415G>C (p.Ala1139Pro)
c.3082G>C (p.Ala1028Pro)
c.3163G>C (p.Ala1055Pro)
c.3181G>C (p.Ala1061Pro)
n.3554G>C
n.3778G>C
c.2350G>C (p.Ala784Pro)
c.2125G>C (p.Ala709Pro)
c.3220G>C (p.Ala1074Pro)
c.1193G>C
c.*516G>C (n.*516G>C)
n.4159G>C
n.2760G>C
c.3271G>C (p.Ala1091Pro)
c.3319G>C (p.Ala1107Pro)
c.3379G>C (p.Ala1127Pro)
c.2929G>C (p.Ala977Pro)
c.1231G>C (p.Ala411Pro)
c.1048G>C (p.Ala350Pro)
c.3280G>C (p.Ala1094Pro)
c.3232G>C (p.Ala1078Pro)
c.3001G>C (p.Ala1001Pro)
c.2902G>C (p.Ala968Pro)
c.2083G>C (p.Ala695Pro)
n.3634G>C
13g.51941222C>TCA388026826ATP7Bc.*1065G>A (n.*1065G>A)
c.*2159G>A (n.*2159G>A)
c.2794G>A (p.Ala932Thr)
c.3415G>A (p.Ala1139Thr)
c.3082G>A (p.Ala1028Thr)
c.3163G>A (p.Ala1055Thr)
c.3181G>A (p.Ala1061Thr)
n.3554G>A
n.3778G>A
c.2350G>A (p.Ala784Thr)
c.2125G>A (p.Ala709Thr)
c.3220G>A (p.Ala1074Thr)
c.1193G>A
c.*516G>A (n.*516G>A)
n.4159G>A
n.2760G>A
c.3271G>A (p.Ala1091Thr)
c.3319G>A (p.Ala1107Thr)
c.3379G>A (p.Ala1127Thr)
c.2929G>A (p.Ala977Thr)
c.1231G>A (p.Ala411Thr)
c.1048G>A (p.Ala350Thr)
c.3280G>A (p.Ala1094Thr)
c.3232G>A (p.Ala1078Thr)
c.3001G>A (p.Ala1001Thr)
c.2902G>A (p.Ala968Thr)
c.2083G>A (p.Ala695Thr)
n.3634G>A
 COSMIC
13g.51941223A>CCA388026827ATP7Bc.*1064T>G (n.*1064T>G)
c.*2158T>G (n.*2158T>G)
c.2793T>G (p.Asp931Glu)
c.3414T>G (p.Asp1138Glu)
c.3081T>G (p.Asp1027Glu)
c.3162T>G (p.Asp1054Glu)
c.3180T>G (p.Asp1060Glu)
n.3553T>G
n.3777T>G
c.2349T>G (p.Asp783Glu)
c.2124T>G (p.Asp708Glu)
c.3219T>G (p.Asp1073Glu)
c.1192T>G
c.*515T>G (n.*515T>G)
n.4158T>G
n.2759T>G
c.3270T>G (p.Asp1090Glu)
c.3318T>G (p.Asp1106Glu)
c.3378T>G (p.Asp1126Glu)
c.2928T>G (p.Asp976Glu)
c.1230T>G (p.Asp410Glu)
c.1047T>G (p.Asp349Glu)
c.3279T>G (p.Asp1093Glu)
c.3231T>G (p.Asp1077Glu)
c.3000T>G (p.Asp1000Glu)
c.2901T>G (p.Asp967Glu)
c.2082T>G (p.Asp694Glu)
n.3633T>G
13g.51941223A>GCA483894249ATP7Bc.*1064T>C (n.*1064T>C)
c.*2158T>C (n.*2158T>C)
c.2793T>C (p.Asp931=)
c.3414T>C (p.Asp1138=)
c.3081T>C (p.Asp1027=)
c.3162T>C (p.Asp1054=)
c.3180T>C (p.Asp1060=)
n.3553T>C
n.3777T>C
c.2349T>C (p.Asp783=)
c.2124T>C (p.Asp708=)
c.3219T>C (p.Asp1073=)
c.1192T>C
c.*515T>C (n.*515T>C)
n.4158T>C
n.2759T>C
c.3270T>C (p.Asp1090=)
c.3318T>C (p.Asp1106=)
c.3378T>C (p.Asp1126=)
c.2928T>C (p.Asp976=)
c.1230T>C (p.Asp410=)
c.1047T>C (p.Asp349=)
c.3279T>C (p.Asp1093=)
c.3231T>C (p.Asp1077=)
c.3000T>C (p.Asp1000=)
c.2901T>C (p.Asp967=)
c.2082T>C (p.Asp694=)
n.3633T>C

Number of alleles fetched