Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51941123G>ACA388026190ATP7Bc.*1164C>T (n.*1164C>T)
c.*2258C>T (n.*2258C>T)
c.2893C>T (p.His965Tyr)
c.3514C>T (p.His1172Tyr)
c.3181C>T (p.His1061Tyr)
c.3262C>T (p.His1088Tyr)
c.3280C>T (p.His1094Tyr)
n.3653C>T
n.3877C>T
c.2449C>T (p.His817Tyr)
c.2224C>T (p.His742Tyr)
c.3319C>T (p.His1107Tyr)
c.1292C>T
c.*615C>T (n.*615C>T)
n.4258C>T
n.2859C>T
c.3370C>T (p.His1124Tyr)
c.3418C>T (p.His1140Tyr)
c.3478C>T (p.His1160Tyr)
c.3028C>T (p.His1010Tyr)
c.1330C>T (p.His444Tyr)
c.1147C>T (p.His383Tyr)
c.3379C>T (p.His1127Tyr)
c.3331C>T (p.His1111Tyr)
c.3100C>T (p.His1034Tyr)
c.3001C>T (p.His1001Tyr)
c.2182C>T (p.His728Tyr)
n.3733C>T
13g.51941123G>CCA388026197ATP7Bc.*1164C>G (n.*1164C>G)
c.*2258C>G (n.*2258C>G)
c.2893C>G (p.His965Asp)
c.3514C>G (p.His1172Asp)
c.3181C>G (p.His1061Asp)
c.3262C>G (p.His1088Asp)
c.3280C>G (p.His1094Asp)
n.3653C>G
n.3877C>G
c.2449C>G (p.His817Asp)
c.2224C>G (p.His742Asp)
c.3319C>G (p.His1107Asp)
c.1292C>G
c.*615C>G (n.*615C>G)
n.4258C>G
n.2859C>G
c.3370C>G (p.His1124Asp)
c.3418C>G (p.His1140Asp)
c.3478C>G (p.His1160Asp)
c.3028C>G (p.His1010Asp)
c.1330C>G (p.His444Asp)
c.1147C>G (p.His383Asp)
c.3379C>G (p.His1127Asp)
c.3331C>G (p.His1111Asp)
c.3100C>G (p.His1034Asp)
c.3001C>G (p.His1001Asp)
c.2182C>G (p.His728Asp)
n.3733C>G
13g.51941123G>TCA388026194ATP7Bc.*1164C>A (n.*1164C>A)
c.*2258C>A (n.*2258C>A)
c.2893C>A (p.His965Asn)
c.3514C>A (p.His1172Asn)
c.3181C>A (p.His1061Asn)
c.3262C>A (p.His1088Asn)
c.3280C>A (p.His1094Asn)
n.3653C>A
n.3877C>A
c.2449C>A (p.His817Asn)
c.2224C>A (p.His742Asn)
c.3319C>A (p.His1107Asn)
c.1292C>A
c.*615C>A (n.*615C>A)
n.4258C>A
n.2859C>A
c.3370C>A (p.His1124Asn)
c.3418C>A (p.His1140Asn)
c.3478C>A (p.His1160Asn)
c.3028C>A (p.His1010Asn)
c.1330C>A (p.His444Asn)
c.1147C>A (p.His383Asn)
c.3379C>A (p.His1127Asn)
c.3331C>A (p.His1111Asn)
c.3100C>A (p.His1034Asn)
c.3001C>A (p.His1001Asn)
c.2182C>A (p.His728Asn)
n.3733C>A
13g.51941124G>ACA483893946ATP7Bc.*1163C>T (n.*1163C>T)
c.*2257C>T (n.*2257C>T)
c.2892C>T (p.Asp964=)
c.3513C>T (p.Asp1171=)
c.3180C>T (p.Asp1060=)
c.3261C>T (p.Asp1087=)
c.3279C>T (p.Asp1093=)
n.3652C>T
n.3876C>T
c.2448C>T (p.Asp816=)
c.2223C>T (p.Asp741=)
c.3318C>T (p.Asp1106=)
c.1291C>T
c.*614C>T (n.*614C>T)
n.4257C>T
n.2858C>T
c.3369C>T (p.Asp1123=)
c.3417C>T (p.Asp1139=)
c.3477C>T (p.Asp1159=)
c.3027C>T (p.Asp1009=)
c.1329C>T (p.Asp443=)
c.1146C>T (p.Asp382=)
c.3378C>T (p.Asp1126=)
c.3330C>T (p.Asp1110=)
c.3099C>T (p.Asp1033=)
c.3000C>T (p.Asp1000=)
c.2181C>T (p.Asp727=)
n.3732C>T
13g.51941124G>CCA388026201ATP7Bc.*1163C>G (n.*1163C>G)
c.*2257C>G (n.*2257C>G)
c.2892C>G (p.Asp964Glu)
c.3513C>G (p.Asp1171Glu)
c.3180C>G (p.Asp1060Glu)
c.3261C>G (p.Asp1087Glu)
c.3279C>G (p.Asp1093Glu)
n.3652C>G
n.3876C>G
c.2448C>G (p.Asp816Glu)
c.2223C>G (p.Asp741Glu)
c.3318C>G (p.Asp1106Glu)
c.1291C>G
c.*614C>G (n.*614C>G)
n.4257C>G
n.2858C>G
c.3369C>G (p.Asp1123Glu)
c.3417C>G (p.Asp1139Glu)
c.3477C>G (p.Asp1159Glu)
c.3027C>G (p.Asp1009Glu)
c.1329C>G (p.Asp443Glu)
c.1146C>G (p.Asp382Glu)
c.3378C>G (p.Asp1126Glu)
c.3330C>G (p.Asp1110Glu)
c.3099C>G (p.Asp1033Glu)
c.3000C>G (p.Asp1000Glu)
c.2181C>G (p.Asp727Glu)
n.3732C>G
13g.51941124G>TCA388026205ATP7Bc.*1163C>A (n.*1163C>A)
c.*2257C>A (n.*2257C>A)
c.2892C>A (p.Asp964Glu)
c.3513C>A (p.Asp1171Glu)
c.3180C>A (p.Asp1060Glu)
c.3261C>A (p.Asp1087Glu)
c.3279C>A (p.Asp1093Glu)
n.3652C>A
n.3876C>A
c.2448C>A (p.Asp816Glu)
c.2223C>A (p.Asp741Glu)
c.3318C>A (p.Asp1106Glu)
c.1291C>A
c.*614C>A (n.*614C>A)
n.4257C>A
n.2858C>A
c.3369C>A (p.Asp1123Glu)
c.3417C>A (p.Asp1139Glu)
c.3477C>A (p.Asp1159Glu)
c.3027C>A (p.Asp1009Glu)
c.1329C>A (p.Asp443Glu)
c.1146C>A (p.Asp382Glu)
c.3378C>A (p.Asp1126Glu)
c.3330C>A (p.Asp1110Glu)
c.3099C>A (p.Asp1033Glu)
c.3000C>A (p.Asp1000Glu)
c.2181C>A (p.Asp727Glu)
n.3732C>A
13g.51941125T>ACA388026213ATP7Bc.*1162A>T (n.*1162A>T)
c.*2256A>T (n.*2256A>T)
c.2891A>T (p.Asp964Val)
c.3512A>T (p.Asp1171Val)
c.3179A>T (p.Asp1060Val)
c.3260A>T (p.Asp1087Val)
c.3278A>T (p.Asp1093Val)
n.3651A>T
n.3875A>T
c.2447A>T (p.Asp816Val)
c.2222A>T (p.Asp741Val)
c.3317A>T (p.Asp1106Val)
c.1290A>T
c.*613A>T (n.*613A>T)
n.4256A>T
n.2857A>T
c.3368A>T (p.Asp1123Val)
c.3416A>T (p.Asp1139Val)
c.3476A>T (p.Asp1159Val)
c.3026A>T (p.Asp1009Val)
c.1328A>T (p.Asp443Val)
c.1145A>T (p.Asp382Val)
c.3377A>T (p.Asp1126Val)
c.3329A>T (p.Asp1110Val)
c.3098A>T (p.Asp1033Val)
c.2999A>T (p.Asp1000Val)
c.2180A>T (p.Asp727Val)
n.3731A>T
13g.51941125T>CCA388026215ATP7Bc.*1162A>G (n.*1162A>G)
c.*2256A>G (n.*2256A>G)
c.2891A>G (p.Asp964Gly)
c.3512A>G (p.Asp1171Gly)
c.3179A>G (p.Asp1060Gly)
c.3260A>G (p.Asp1087Gly)
c.3278A>G (p.Asp1093Gly)
n.3651A>G
n.3875A>G
c.2447A>G (p.Asp816Gly)
c.2222A>G (p.Asp741Gly)
c.3317A>G (p.Asp1106Gly)
c.1290A>G
c.*613A>G (n.*613A>G)
n.4256A>G
n.2857A>G
c.3368A>G (p.Asp1123Gly)
c.3416A>G (p.Asp1139Gly)
c.3476A>G (p.Asp1159Gly)
c.3026A>G (p.Asp1009Gly)
c.1328A>G (p.Asp443Gly)
c.1145A>G (p.Asp382Gly)
c.3377A>G (p.Asp1126Gly)
c.3329A>G (p.Asp1110Gly)
c.3098A>G (p.Asp1033Gly)
c.2999A>G (p.Asp1000Gly)
c.2180A>G (p.Asp727Gly)
n.3731A>G
13g.51941125T>GCA388026218ATP7Bc.*1162A>C (n.*1162A>C)
c.*2256A>C (n.*2256A>C)
c.2891A>C (p.Asp964Ala)
c.3512A>C (p.Asp1171Ala)
c.3179A>C (p.Asp1060Ala)
c.3260A>C (p.Asp1087Ala)
c.3278A>C (p.Asp1093Ala)
n.3651A>C
n.3875A>C
c.2447A>C (p.Asp816Ala)
c.2222A>C (p.Asp741Ala)
c.3317A>C (p.Asp1106Ala)
c.1290A>C
c.*613A>C (n.*613A>C)
n.4256A>C
n.2857A>C
c.3368A>C (p.Asp1123Ala)
c.3416A>C (p.Asp1139Ala)
c.3476A>C (p.Asp1159Ala)
c.3026A>C (p.Asp1009Ala)
c.1328A>C (p.Asp443Ala)
c.1145A>C (p.Asp382Ala)
c.3377A>C (p.Asp1126Ala)
c.3329A>C (p.Asp1110Ala)
c.3098A>C (p.Asp1033Ala)
c.2999A>C (p.Asp1000Ala)
c.2180A>C (p.Asp727Ala)
n.3731A>C
13g.51941126C>ACA388026221ATP7Bc.*1161G>T (n.*1161G>T)
c.*2255G>T (n.*2255G>T)
c.2890G>T (p.Asp964Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3178G>T (p.Asp1060Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3277G>T (p.Asp1093Tyr)
n.3650G>T
n.3874G>T
c.2446G>T (p.Asp816Tyr)
c.2221G>T (p.Asp741Tyr)
c.3316G>T (p.Asp1106Tyr)
c.1289G>T
c.*612G>T (n.*612G>T)
n.4255G>T
n.2856G>T
c.3367G>T (p.Asp1123Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3475G>T (p.Asp1159Tyr)
c.3025G>T (p.Asp1009Tyr)
c.1327G>T (p.Asp443Tyr)
c.1144G>T (p.Asp382Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3328G>T (p.Asp1110Tyr)
c.3097G>T (p.Asp1033Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2179G>T (p.Asp727Tyr)
n.3730G>T
13g.51941126C>GCA388026234ATP7Bc.*1161G>C (n.*1161G>C)
c.*2255G>C (n.*2255G>C)
c.2890G>C (p.Asp964His)
c.3511G>C (p.Asp1171His)
c.3178G>C (p.Asp1060His)
c.3259G>C (p.Asp1087His)
c.3277G>C (p.Asp1093His)
n.3650G>C
n.3874G>C
c.2446G>C (p.Asp816His)
c.2221G>C (p.Asp741His)
c.3316G>C (p.Asp1106His)
c.1289G>C
c.*612G>C (n.*612G>C)
n.4255G>C
n.2856G>C
c.3367G>C (p.Asp1123His)
c.3415G>C (p.Asp1139His)
c.3475G>C (p.Asp1159His)
c.3025G>C (p.Asp1009His)
c.1327G>C (p.Asp443His)
c.1144G>C (p.Asp382His)
c.3376G>C (p.Asp1126His)
c.3328G>C (p.Asp1110His)
c.3097G>C (p.Asp1033His)
c.2998G>C (p.Asp1000His)
c.2179G>C (p.Asp727His)
n.3730G>C
 gnomAD v4
13g.51941126C>TCA388026238ATP7Bc.*1161G>A (n.*1161G>A)
c.*2255G>A (n.*2255G>A)
c.2890G>A (p.Asp964Asn)
c.3511G>A (p.Asp1171Asn)
c.3178G>A (p.Asp1060Asn)
c.3259G>A (p.Asp1087Asn)
c.3277G>A (p.Asp1093Asn)
n.3650G>A
n.3874G>A
c.2446G>A (p.Asp816Asn)
c.2221G>A (p.Asp741Asn)
c.3316G>A (p.Asp1106Asn)
c.1289G>A
c.*612G>A (n.*612G>A)
n.4255G>A
n.2856G>A
c.3367G>A (p.Asp1123Asn)
c.3415G>A (p.Asp1139Asn)
c.3475G>A (p.Asp1159Asn)
c.3025G>A (p.Asp1009Asn)
c.1327G>A (p.Asp443Asn)
c.1144G>A (p.Asp382Asn)
c.3376G>A (p.Asp1126Asn)
c.3328G>A (p.Asp1110Asn)
c.3097G>A (p.Asp1033Asn)
c.2998G>A (p.Asp1000Asn)
c.2179G>A (p.Asp727Asn)
n.3730G>A
 gnomAD v4
13g.51941127T>ACA483893947ATP7Bc.*1160A>T (n.*1160A>T)
c.*2254A>T (n.*2254A>T)
c.2889A>T (p.Thr963=)
c.3510A>T (p.Thr1170=)
c.3177A>T (p.Thr1059=)
c.3258A>T (p.Thr1086=)
c.3276A>T (p.Thr1092=)
n.3649A>T
n.3873A>T
c.2445A>T (p.Thr815=)
c.2220A>T (p.Thr740=)
c.3315A>T (p.Thr1105=)
c.1288A>T
c.*611A>T (n.*611A>T)
n.4254A>T
n.2855A>T
c.3366A>T (p.Thr1122=)
c.3414A>T (p.Thr1138=)
c.3474A>T (p.Thr1158=)
c.3024A>T (p.Thr1008=)
c.1326A>T (p.Thr442=)
c.1143A>T (p.Thr381=)
c.3375A>T (p.Thr1125=)
c.3327A>T (p.Thr1109=)
c.3096A>T (p.Thr1032=)
c.2997A>T (p.Thr999=)
c.2178A>T (p.Thr726=)
n.3729A>T
13g.51941127T>CCA6988668ATP7Bc.*1160A>G (n.*1160A>G)
c.*2254A>G (n.*2254A>G)
c.2889A>G (p.Thr963=)
c.3510A>G (p.Thr1170=)
c.3177A>G (p.Thr1059=)
c.3258A>G (p.Thr1086=)
c.3276A>G (p.Thr1092=)
n.3649A>G
n.3873A>G
c.2445A>G (p.Thr815=)
c.2220A>G (p.Thr740=)
c.3315A>G (p.Thr1105=)
c.1288A>G
c.*611A>G (n.*611A>G)
n.4254A>G
n.2855A>G
c.3366A>G (p.Thr1122=)
c.3414A>G (p.Thr1138=)
c.3474A>G (p.Thr1158=)
c.3024A>G (p.Thr1008=)
c.1326A>G (p.Thr442=)
c.1143A>G (p.Thr381=)
c.3375A>G (p.Thr1125=)
c.3327A>G (p.Thr1109=)
c.3096A>G (p.Thr1032=)
c.2997A>G (p.Thr999=)
c.2178A>G (p.Thr726=)
n.3729A>G
 dbSNP ExAC gnomAD v2
13g.51941127T>GCA483893948ATP7Bc.*1160A>C (n.*1160A>C)
c.*2254A>C (n.*2254A>C)
c.2889A>C (p.Thr963=)
c.3510A>C (p.Thr1170=)
c.3177A>C (p.Thr1059=)
c.3258A>C (p.Thr1086=)
c.3276A>C (p.Thr1092=)
n.3649A>C
n.3873A>C
c.2445A>C (p.Thr815=)
c.2220A>C (p.Thr740=)
c.3315A>C (p.Thr1105=)
c.1288A>C
c.*611A>C (n.*611A>C)
n.4254A>C
n.2855A>C
c.3366A>C (p.Thr1122=)
c.3414A>C (p.Thr1138=)
c.3474A>C (p.Thr1158=)
c.3024A>C (p.Thr1008=)
c.1326A>C (p.Thr442=)
c.1143A>C (p.Thr381=)
c.3375A>C (p.Thr1125=)
c.3327A>C (p.Thr1109=)
c.3096A>C (p.Thr1032=)
c.2997A>C (p.Thr999=)
c.2178A>C (p.Thr726=)
n.3729A>C
13g.51941127T=CA2091559407ATP7Bc.*1160A= (n.*1160A=)
c.*2254A= (n.*2254A=)
c.2889A= (p.Thr963=)
c.3510A= (p.Thr1170=)
c.3177A= (p.Thr1059=)
c.3258A= (p.Thr1086=)
c.3276A= (p.Thr1092=)
n.3649A=
n.3873A=
c.2445A= (p.Thr815=)
c.2220A= (p.Thr740=)
c.3315A= (p.Thr1105=)
c.1288A=
c.*611A= (n.*611A=)
n.4254A=
n.2855A=
c.3366A= (p.Thr1122=)
c.3414A= (p.Thr1138=)
c.3474A= (p.Thr1158=)
c.3024A= (p.Thr1008=)
c.1326A= (p.Thr442=)
c.1143A= (p.Thr381=)
c.3375A= (p.Thr1125=)
c.3327A= (p.Thr1109=)
c.3096A= (p.Thr1032=)
c.2997A= (p.Thr999=)
c.2178A= (p.Thr726=)
n.3729A=
13g.51941127_51941128delinsTGCA2091559408ATP7Bc.*1159_*1160delinsCA (n.*1159_*1160delinsCA)
c.*2253_*2254delinsCA (n.*2253_*2254delinsCA)
c.2888_2889delinsCA (p.Thr963=)
c.3509_3510delinsCA (p.Thr1170=)
c.3176_3177delinsCA (p.Thr1059=)
c.3257_3258delinsCA (p.Thr1086=)
c.3275_3276delinsCA (p.Thr1092=)
n.3648_3649delinsCA
n.3872_3873delinsCA
c.2444_2445delinsCA (p.Thr815=)
c.2219_2220delinsCA (p.Thr740=)
c.3314_3315delinsCA (p.Thr1105=)
c.1287_1288delinsCA
c.*610_*611delinsCA (n.*610_*611delinsCA)
n.4253_4254delinsCA
n.2854_2855delinsCA
c.3365_3366delinsCA (p.Thr1122=)
c.3413_3414delinsCA (p.Thr1138=)
c.3473_3474delinsCA (p.Thr1158=)
c.3023_3024delinsCA (p.Thr1008=)
c.1325_1326delinsCA (p.Thr442=)
c.1142_1143delinsCA (p.Thr381=)
c.3374_3375delinsCA (p.Thr1125=)
c.3326_3327delinsCA (p.Thr1109=)
c.3095_3096delinsCA (p.Thr1032=)
c.2996_2997delinsCA (p.Thr999=)
c.2177_2178delinsCA (p.Thr726=)
n.3728_3729delinsCA
13g.51941128delCA6988669ATP7Bc.*1159del (n.*1159del)
c.*2253del (n.*2253del)
c.2888del (p.Thr963LysfsTer5)
c.3509del (p.Thr1170LysfsTer5)
c.3176del (p.Thr1059LysfsTer5)
c.3257del (p.Thr1086LysfsTer5)
c.3275del (p.Thr1092LysfsTer5)
n.3648del
n.3872del
c.2444del (p.Thr815LysfsTer5)
c.2219del (p.Thr740LysfsTer5)
c.3314del (p.Thr1105LysfsTer5)
c.1287del
c.*610del (n.*610del)
n.4253del
n.2854del
c.3365del (p.Thr1122LysfsTer5)
c.3413del (p.Thr1138LysfsTer5)
c.3473del (p.Thr1158LysfsTer5)
c.3023del (p.Thr1008LysfsTer5)
c.1325del (p.Thr442LysfsTer5)
c.1142del (p.Thr381LysfsTer5)
c.3374del (p.Thr1125LysfsTer5)
c.3326del (p.Thr1109LysfsTer5)
c.3095del (p.Thr1032LysfsTer5)
c.2996del (p.Thr999LysfsTer5)
c.2177del (p.Thr726LysfsTer5)
n.3728del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941128G>ACA388026242ATP7Bc.*1159C>T (n.*1159C>T)
c.*2253C>T (n.*2253C>T)
c.2888C>T (p.Thr963Ile)
c.3509C>T (p.Thr1170Ile)
c.3176C>T (p.Thr1059Ile)
c.3257C>T (p.Thr1086Ile)
c.3275C>T (p.Thr1092Ile)
n.3648C>T
n.3872C>T
c.2444C>T (p.Thr815Ile)
c.2219C>T (p.Thr740Ile)
c.3314C>T (p.Thr1105Ile)
c.1287C>T
c.*610C>T (n.*610C>T)
n.4253C>T
n.2854C>T
c.3365C>T (p.Thr1122Ile)
c.3413C>T (p.Thr1138Ile)
c.3473C>T (p.Thr1158Ile)
c.3023C>T (p.Thr1008Ile)
c.1325C>T (p.Thr442Ile)
c.1142C>T (p.Thr381Ile)
c.3374C>T (p.Thr1125Ile)
c.3326C>T (p.Thr1109Ile)
c.3095C>T (p.Thr1032Ile)
c.2996C>T (p.Thr999Ile)
c.2177C>T (p.Thr726Ile)
n.3728C>T
13g.51941128G>CCA388026244ATP7Bc.*1159C>G (n.*1159C>G)
c.*2253C>G (n.*2253C>G)
c.2888C>G (p.Thr963Arg)
c.3509C>G (p.Thr1170Arg)
c.3176C>G (p.Thr1059Arg)
c.3257C>G (p.Thr1086Arg)
c.3275C>G (p.Thr1092Arg)
n.3648C>G
n.3872C>G
c.2444C>G (p.Thr815Arg)
c.2219C>G (p.Thr740Arg)
c.3314C>G (p.Thr1105Arg)
c.1287C>G
c.*610C>G (n.*610C>G)
n.4253C>G
n.2854C>G
c.3365C>G (p.Thr1122Arg)
c.3413C>G (p.Thr1138Arg)
c.3473C>G (p.Thr1158Arg)
c.3023C>G (p.Thr1008Arg)
c.1325C>G (p.Thr442Arg)
c.1142C>G (p.Thr381Arg)
c.3374C>G (p.Thr1125Arg)
c.3326C>G (p.Thr1109Arg)
c.3095C>G (p.Thr1032Arg)
c.2996C>G (p.Thr999Arg)
c.2177C>G (p.Thr726Arg)
n.3728C>G
13g.51941128G>TCA388026247ATP7Bc.*1159C>A (n.*1159C>A)
c.*2253C>A (n.*2253C>A)
c.2888C>A (p.Thr963Lys)
c.3509C>A (p.Thr1170Lys)
c.3176C>A (p.Thr1059Lys)
c.3257C>A (p.Thr1086Lys)
c.3275C>A (p.Thr1092Lys)
n.3648C>A
n.3872C>A
c.2444C>A (p.Thr815Lys)
c.2219C>A (p.Thr740Lys)
c.3314C>A (p.Thr1105Lys)
c.1287C>A
c.*610C>A (n.*610C>A)
n.4253C>A
n.2854C>A
c.3365C>A (p.Thr1122Lys)
c.3413C>A (p.Thr1138Lys)
c.3473C>A (p.Thr1158Lys)
c.3023C>A (p.Thr1008Lys)
c.1325C>A (p.Thr442Lys)
c.1142C>A (p.Thr381Lys)
c.3374C>A (p.Thr1125Lys)
c.3326C>A (p.Thr1109Lys)
c.3095C>A (p.Thr1032Lys)
c.2996C>A (p.Thr999Lys)
c.2177C>A (p.Thr726Lys)
n.3728C>A
13g.51941129T>ACA388026269ATP7Bc.*1158A>T (n.*1158A>T)
c.*2252A>T (n.*2252A>T)
c.2887A>T (p.Thr963Ser)
c.3508A>T (p.Thr1170Ser)
c.3175A>T (p.Thr1059Ser)
c.3256A>T (p.Thr1086Ser)
c.3274A>T (p.Thr1092Ser)
n.3647A>T
n.3871A>T
c.2443A>T (p.Thr815Ser)
c.2218A>T (p.Thr740Ser)
c.3313A>T (p.Thr1105Ser)
c.1286A>T
c.*609A>T (n.*609A>T)
n.4252A>T
n.2853A>T
c.3364A>T (p.Thr1122Ser)
c.3412A>T (p.Thr1138Ser)
c.3472A>T (p.Thr1158Ser)
c.3022A>T (p.Thr1008Ser)
c.1324A>T (p.Thr442Ser)
c.1141A>T (p.Thr381Ser)
c.3373A>T (p.Thr1125Ser)
c.3325A>T (p.Thr1109Ser)
c.3094A>T (p.Thr1032Ser)
c.2995A>T (p.Thr999Ser)
c.2176A>T (p.Thr726Ser)
n.3727A>T
13g.51941129T>CCA388026265ATP7Bc.*1158A>G (n.*1158A>G)
c.*2252A>G (n.*2252A>G)
c.2887A>G (p.Thr963Ala)
c.3508A>G (p.Thr1170Ala)
c.3175A>G (p.Thr1059Ala)
c.3256A>G (p.Thr1086Ala)
c.3274A>G (p.Thr1092Ala)
n.3647A>G
n.3871A>G
c.2443A>G (p.Thr815Ala)
c.2218A>G (p.Thr740Ala)
c.3313A>G (p.Thr1105Ala)
c.1286A>G
c.*609A>G (n.*609A>G)
n.4252A>G
n.2853A>G
c.3364A>G (p.Thr1122Ala)
c.3412A>G (p.Thr1138Ala)
c.3472A>G (p.Thr1158Ala)
c.3022A>G (p.Thr1008Ala)
c.1324A>G (p.Thr442Ala)
c.1141A>G (p.Thr381Ala)
c.3373A>G (p.Thr1125Ala)
c.3325A>G (p.Thr1109Ala)
c.3094A>G (p.Thr1032Ala)
c.2995A>G (p.Thr999Ala)
c.2176A>G (p.Thr726Ala)
n.3727A>G
13g.51941129T>GCA388026268ATP7Bc.*1158A>C (n.*1158A>C)
c.*2252A>C (n.*2252A>C)
c.2887A>C (p.Thr963Pro)
c.3508A>C (p.Thr1170Pro)
c.3175A>C (p.Thr1059Pro)
c.3256A>C (p.Thr1086Pro)
c.3274A>C (p.Thr1092Pro)
n.3647A>C
n.3871A>C
c.2443A>C (p.Thr815Pro)
c.2218A>C (p.Thr740Pro)
c.3313A>C (p.Thr1105Pro)
c.1286A>C
c.*609A>C (n.*609A>C)
n.4252A>C
n.2853A>C
c.3364A>C (p.Thr1122Pro)
c.3412A>C (p.Thr1138Pro)
c.3472A>C (p.Thr1158Pro)
c.3022A>C (p.Thr1008Pro)
c.1324A>C (p.Thr442Pro)
c.1141A>C (p.Thr381Pro)
c.3373A>C (p.Thr1125Pro)
c.3325A>C (p.Thr1109Pro)
c.3094A>C (p.Thr1032Pro)
c.2995A>C (p.Thr999Pro)
c.2176A>C (p.Thr726Pro)
n.3727A>C
13g.51941130C>ACA388026273ATP7Bc.*1157G>T (n.*1157G>T)
c.*2251G>T (n.*2251G>T)
c.2886G>T (p.Met962Ile)
c.3507G>T (p.Met1169Ile)
c.3174G>T (p.Met1058Ile)
c.3255G>T (p.Met1085Ile)
c.3273G>T (p.Met1091Ile)
n.3646G>T
n.3870G>T
c.2442G>T (p.Met814Ile)
c.2217G>T (p.Met739Ile)
c.3312G>T (p.Met1104Ile)
c.1285G>T
c.*608G>T (n.*608G>T)
n.4251G>T
n.2852G>T
c.3363G>T (p.Met1121Ile)
c.3411G>T (p.Met1137Ile)
c.3471G>T (p.Met1157Ile)
c.3021G>T (p.Met1007Ile)
c.1323G>T (p.Met441Ile)
c.1140G>T (p.Met380Ile)
c.3372G>T (p.Met1124Ile)
c.3324G>T (p.Met1108Ile)
c.3093G>T (p.Met1031Ile)
c.2994G>T (p.Met998Ile)
c.2175G>T (p.Met725Ile)
n.3726G>T
13g.51941130C>GCA388026276ATP7Bc.*1157G>C (n.*1157G>C)
c.*2251G>C (n.*2251G>C)
c.2886G>C (p.Met962Ile)
c.3507G>C (p.Met1169Ile)
c.3174G>C (p.Met1058Ile)
c.3255G>C (p.Met1085Ile)
c.3273G>C (p.Met1091Ile)
n.3646G>C
n.3870G>C
c.2442G>C (p.Met814Ile)
c.2217G>C (p.Met739Ile)
c.3312G>C (p.Met1104Ile)
c.1285G>C
c.*608G>C (n.*608G>C)
n.4251G>C
n.2852G>C
c.3363G>C (p.Met1121Ile)
c.3411G>C (p.Met1137Ile)
c.3471G>C (p.Met1157Ile)
c.3021G>C (p.Met1007Ile)
c.1323G>C (p.Met441Ile)
c.1140G>C (p.Met380Ile)
c.3372G>C (p.Met1124Ile)
c.3324G>C (p.Met1108Ile)
c.3093G>C (p.Met1031Ile)
c.2994G>C (p.Met998Ile)
c.2175G>C (p.Met725Ile)
n.3726G>C
13g.51941130C>TCA388026279ATP7Bc.*1157G>A (n.*1157G>A)
c.*2251G>A (n.*2251G>A)
c.2886G>A (p.Met962Ile)
c.3507G>A (p.Met1169Ile)
c.3174G>A (p.Met1058Ile)
c.3255G>A (p.Met1085Ile)
c.3273G>A (p.Met1091Ile)
n.3646G>A
n.3870G>A
c.2442G>A (p.Met814Ile)
c.2217G>A (p.Met739Ile)
c.3312G>A (p.Met1104Ile)
c.1285G>A
c.*608G>A (n.*608G>A)
n.4251G>A
n.2852G>A
c.3363G>A (p.Met1121Ile)
c.3411G>A (p.Met1137Ile)
c.3471G>A (p.Met1157Ile)
c.3021G>A (p.Met1007Ile)
c.1323G>A (p.Met441Ile)
c.1140G>A (p.Met380Ile)
c.3372G>A (p.Met1124Ile)
c.3324G>A (p.Met1108Ile)
c.3093G>A (p.Met1031Ile)
c.2994G>A (p.Met998Ile)
c.2175G>A (p.Met725Ile)
n.3726G>A
 ClinVar dbSNP gnomAD v4
13g.51941130_51941132delinsCATCA2091559414ATP7Bc.*1155_*1157delinsATG (n.*1155_*1157delinsATG)
c.*2249_*2251delinsATG (n.*2249_*2251delinsATG)
c.2884_2886delinsATG (p.Met962=)
c.3505_3507delinsATG (p.Met1169=)
c.3172_3174delinsATG (p.Met1058=)
c.3253_3255delinsATG (p.Met1085=)
c.3271_3273delinsATG (p.Met1091=)
n.3644_3646delinsATG
n.3868_3870delinsATG
c.2440_2442delinsATG (p.Met814=)
c.2215_2217delinsATG (p.Met739=)
c.3310_3312delinsATG (p.Met1104=)
c.1283_1285delinsATG
c.*606_*608delinsATG (n.*606_*608delinsATG)
n.4249_4251delinsATG
n.2850_2852delinsATG
c.3361_3363delinsATG (p.Met1121=)
c.3409_3411delinsATG (p.Met1137=)
c.3469_3471delinsATG (p.Met1157=)
c.3019_3021delinsATG (p.Met1007=)
c.1321_1323delinsATG (p.Met441=)
c.1138_1140delinsATG (p.Met380=)
c.3370_3372delinsATG (p.Met1124=)
c.3322_3324delinsATG (p.Met1108=)
c.3091_3093delinsATG (p.Met1031=)
c.2992_2994delinsATG (p.Met998=)
c.2173_2175delinsATG (p.Met725=)
n.3724_3726delinsATG
13g.51941131A=CA2091559419ATP7Bc.*1156T= (n.*1156T=)
c.*2250T= (n.*2250T=)
c.2885T= (p.Met962=)
c.3506T= (p.Met1169=)
c.3173T= (p.Met1058=)
c.3254T= (p.Met1085=)
c.3272T= (p.Met1091=)
n.3645T=
n.3869T=
c.2441T= (p.Met814=)
c.2216T= (p.Met739=)
c.3311T= (p.Met1104=)
c.1284T=
c.*607T= (n.*607T=)
n.4250T=
n.2851T=
c.3362T= (p.Met1121=)
c.3410T= (p.Met1137=)
c.3470T= (p.Met1157=)
c.3020T= (p.Met1007=)
c.1322T= (p.Met441=)
c.1139T= (p.Met380=)
c.3371T= (p.Met1124=)
c.3323T= (p.Met1108=)
c.3092T= (p.Met1031=)
c.2993T= (p.Met998=)
c.2174T= (p.Met725=)
n.3725T=
13g.51941131A>CCA388026283ATP7Bc.*1156T>G (n.*1156T>G)
c.*2250T>G (n.*2250T>G)
c.2885T>G (p.Met962Arg)
c.3506T>G (p.Met1169Arg)
c.3173T>G (p.Met1058Arg)
c.3254T>G (p.Met1085Arg)
c.3272T>G (p.Met1091Arg)
n.3645T>G
n.3869T>G
c.2441T>G (p.Met814Arg)
c.2216T>G (p.Met739Arg)
c.3311T>G (p.Met1104Arg)
c.1284T>G
c.*607T>G (n.*607T>G)
n.4250T>G
n.2851T>G
c.3362T>G (p.Met1121Arg)
c.3410T>G (p.Met1137Arg)
c.3470T>G (p.Met1157Arg)
c.3020T>G (p.Met1007Arg)
c.1322T>G (p.Met441Arg)
c.1139T>G (p.Met380Arg)
c.3371T>G (p.Met1124Arg)
c.3323T>G (p.Met1108Arg)
c.3092T>G (p.Met1031Arg)
c.2993T>G (p.Met998Arg)
c.2174T>G (p.Met725Arg)
n.3725T>G
13g.51941131A>GCA388026285ATP7Bc.*1156T>C (n.*1156T>C)
c.*2250T>C (n.*2250T>C)
c.2885T>C (p.Met962Thr)
c.3506T>C (p.Met1169Thr)
c.3173T>C (p.Met1058Thr)
c.3254T>C (p.Met1085Thr)
c.3272T>C (p.Met1091Thr)
n.3645T>C
n.3869T>C
c.2441T>C (p.Met814Thr)
c.2216T>C (p.Met739Thr)
c.3311T>C (p.Met1104Thr)
c.1284T>C
c.*607T>C (n.*607T>C)
n.4250T>C
n.2851T>C
c.3362T>C (p.Met1121Thr)
c.3410T>C (p.Met1137Thr)
c.3470T>C (p.Met1157Thr)
c.3020T>C (p.Met1007Thr)
c.1322T>C (p.Met441Thr)
c.1139T>C (p.Met380Thr)
c.3371T>C (p.Met1124Thr)
c.3323T>C (p.Met1108Thr)
c.3092T>C (p.Met1031Thr)
c.2993T>C (p.Met998Thr)
c.2174T>C (p.Met725Thr)
n.3725T>C
 ClinVar dbSNP
13g.51941131A>TCA388026288ATP7Bc.*1156T>A (n.*1156T>A)
c.*2250T>A (n.*2250T>A)
c.2885T>A (p.Met962Lys)
c.3506T>A (p.Met1169Lys)
c.3173T>A (p.Met1058Lys)
c.3254T>A (p.Met1085Lys)
c.3272T>A (p.Met1091Lys)
n.3645T>A
n.3869T>A
c.2441T>A (p.Met814Lys)
c.2216T>A (p.Met739Lys)
c.3311T>A (p.Met1104Lys)
c.1284T>A
c.*607T>A (n.*607T>A)
n.4250T>A
n.2851T>A
c.3362T>A (p.Met1121Lys)
c.3410T>A (p.Met1137Lys)
c.3470T>A (p.Met1157Lys)
c.3020T>A (p.Met1007Lys)
c.1322T>A (p.Met441Lys)
c.1139T>A (p.Met380Lys)
c.3371T>A (p.Met1124Lys)
c.3323T>A (p.Met1108Lys)
c.3092T>A (p.Met1031Lys)
c.2993T>A (p.Met998Lys)
c.2174T>A (p.Met725Lys)
n.3725T>A
13g.51941132_51941133delCA609963665ATP7Bc.*1155_*1156del (n.*1155_*1156del)
c.*2249_*2250del (n.*2249_*2250del)
c.2884_2885del (p.Met962AspfsTer16)
c.3505_3506del (p.Met1169AspfsTer16)
c.3172_3173del (p.Met1058AspfsTer16)
c.3253_3254del (p.Met1085AspfsTer16)
c.3271_3272del (p.Met1091AspfsTer16)
n.3644_3645del
n.3868_3869del
c.2440_2441del (p.Met814AspfsTer16)
c.2215_2216del (p.Met739AspfsTer16)
c.3310_3311del (p.Met1104AspfsTer16)
c.1283_1284del
c.*606_*607del (n.*606_*607del)
n.4249_4250del
n.2850_2851del
c.3361_3362del (p.Met1121AspfsTer16)
c.3409_3410del (p.Met1137AspfsTer16)
c.3469_3470del (p.Met1157AspfsTer16)
c.3019_3020del (p.Met1007AspfsTer16)
c.1321_1322del (p.Met441AspfsTer16)
c.1138_1139del (p.Met380AspfsTer16)
c.3370_3371del (p.Met1124AspfsTer16)
c.3322_3323del (p.Met1108AspfsTer16)
c.3091_3092del (p.Met1031AspfsTer16)
c.2992_2993del (p.Met998AspfsTer16)
c.2173_2174del (p.Met725AspfsTer16)
n.3724_3725del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941132T>ACA388026291ATP7Bc.*1155A>T (n.*1155A>T)
c.*2249A>T (n.*2249A>T)
c.2884A>T (p.Met962Leu)
c.3505A>T (p.Met1169Leu)
c.3172A>T (p.Met1058Leu)
c.3253A>T (p.Met1085Leu)
c.3271A>T (p.Met1091Leu)
n.3644A>T
n.3868A>T
c.2440A>T (p.Met814Leu)
c.2215A>T (p.Met739Leu)
c.3310A>T (p.Met1104Leu)
c.1283A>T
c.*606A>T (n.*606A>T)
n.4249A>T
n.2850A>T
c.3361A>T (p.Met1121Leu)
c.3409A>T (p.Met1137Leu)
c.3469A>T (p.Met1157Leu)
c.3019A>T (p.Met1007Leu)
c.1321A>T (p.Met441Leu)
c.1138A>T (p.Met380Leu)
c.3370A>T (p.Met1124Leu)
c.3322A>T (p.Met1108Leu)
c.3091A>T (p.Met1031Leu)
c.2992A>T (p.Met998Leu)
c.2173A>T (p.Met725Leu)
n.3724A>T
13g.51941132T>CCA277193ATP7Bc.*1155A>G (n.*1155A>G)
c.*2249A>G (n.*2249A>G)
c.2884A>G (p.Met962Val)
c.3505A>G (p.Met1169Val)
c.3172A>G (p.Met1058Val)
c.3253A>G (p.Met1085Val)
c.3271A>G (p.Met1091Val)
n.3644A>G
n.3868A>G
c.2440A>G (p.Met814Val)
c.2215A>G (p.Met739Val)
c.3310A>G (p.Met1104Val)
c.1283A>G
c.*606A>G (n.*606A>G)
n.4249A>G
n.2850A>G
c.3361A>G (p.Met1121Val)
c.3409A>G (p.Met1137Val)
c.3469A>G (p.Met1157Val)
c.3019A>G (p.Met1007Val)
c.1321A>G (p.Met441Val)
c.1138A>G (p.Met380Val)
c.3370A>G (p.Met1124Val)
c.3322A>G (p.Met1108Val)
c.3091A>G (p.Met1031Val)
c.2992A>G (p.Met998Val)
c.2173A>G (p.Met725Val)
n.3724A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941132T>GCA388026299ATP7Bc.*1155A>C (n.*1155A>C)
c.*2249A>C (n.*2249A>C)
c.2884A>C (p.Met962Leu)
c.3505A>C (p.Met1169Leu)
c.3172A>C (p.Met1058Leu)
c.3253A>C (p.Met1085Leu)
c.3271A>C (p.Met1091Leu)
n.3644A>C
n.3868A>C
c.2440A>C (p.Met814Leu)
c.2215A>C (p.Met739Leu)
c.3310A>C (p.Met1104Leu)
c.1283A>C
c.*606A>C (n.*606A>C)
n.4249A>C
n.2850A>C
c.3361A>C (p.Met1121Leu)
c.3409A>C (p.Met1137Leu)
c.3469A>C (p.Met1157Leu)
c.3019A>C (p.Met1007Leu)
c.1321A>C (p.Met441Leu)
c.1138A>C (p.Met380Leu)
c.3370A>C (p.Met1124Leu)
c.3322A>C (p.Met1108Leu)
c.3091A>C (p.Met1031Leu)
c.2992A>C (p.Met998Leu)
c.2173A>C (p.Met725Leu)
n.3724A>C
 gnomAD v4
13g.51941132T=CA2091559428ATP7Bc.*1155A= (n.*1155A=)
c.*2249A= (n.*2249A=)
c.2884A= (p.Met962=)
c.3505A= (p.Met1169=)
c.3172A= (p.Met1058=)
c.3253A= (p.Met1085=)
c.3271A= (p.Met1091=)
n.3644A=
n.3868A=
c.2440A= (p.Met814=)
c.2215A= (p.Met739=)
c.3310A= (p.Met1104=)
c.1283A=
c.*606A= (n.*606A=)
n.4249A=
n.2850A=
c.3361A= (p.Met1121=)
c.3409A= (p.Met1137=)
c.3469A= (p.Met1157=)
c.3019A= (p.Met1007=)
c.1321A= (p.Met441=)
c.1138A= (p.Met380=)
c.3370A= (p.Met1124=)
c.3322A= (p.Met1108=)
c.3091A= (p.Met1031=)
c.2992A= (p.Met998=)
c.2173A= (p.Met725=)
n.3724A=
13g.51941133A=CA2091559435ATP7Bc.*1154T= (n.*1154T=)
c.*2248T= (n.*2248T=)
c.2883T= (p.Ala961=)
c.3504T= (p.Ala1168=)
c.3171T= (p.Ala1057=)
c.3252T= (p.Ala1084=)
c.3270T= (p.Ala1090=)
n.3643T=
n.3867T=
c.2439T= (p.Ala813=)
c.2214T= (p.Ala738=)
c.3309T= (p.Ala1103=)
c.1282T=
c.*605T= (n.*605T=)
n.4248T=
n.2849T=
c.3360T= (p.Ala1120=)
c.3408T= (p.Ala1136=)
c.3468T= (p.Ala1156=)
c.3018T= (p.Ala1006=)
c.1320T= (p.Ala440=)
c.1137T= (p.Ala379=)
c.3369T= (p.Ala1123=)
c.3321T= (p.Ala1107=)
c.3090T= (p.Ala1030=)
c.2991T= (p.Ala997=)
c.2172T= (p.Ala724=)
n.3723T=
13g.51941133A>CCA483893950ATP7Bc.*1154T>G (n.*1154T>G)
c.*2248T>G (n.*2248T>G)
c.2883T>G (p.Ala961=)
c.3504T>G (p.Ala1168=)
c.3171T>G (p.Ala1057=)
c.3252T>G (p.Ala1084=)
c.3270T>G (p.Ala1090=)
n.3643T>G
n.3867T>G
c.2439T>G (p.Ala813=)
c.2214T>G (p.Ala738=)
c.3309T>G (p.Ala1103=)
c.1282T>G
c.*605T>G (n.*605T>G)
n.4248T>G
n.2849T>G
c.3360T>G (p.Ala1120=)
c.3408T>G (p.Ala1136=)
c.3468T>G (p.Ala1156=)
c.3018T>G (p.Ala1006=)
c.1320T>G (p.Ala440=)
c.1137T>G (p.Ala379=)
c.3369T>G (p.Ala1123=)
c.3321T>G (p.Ala1107=)
c.3090T>G (p.Ala1030=)
c.2991T>G (p.Ala997=)
c.2172T>G (p.Ala724=)
n.3723T>G
13g.51941133A>GCA483893951ATP7Bc.*1154T>C (n.*1154T>C)
c.*2248T>C (n.*2248T>C)
c.2883T>C (p.Ala961=)
c.3504T>C (p.Ala1168=)
c.3171T>C (p.Ala1057=)
c.3252T>C (p.Ala1084=)
c.3270T>C (p.Ala1090=)
n.3643T>C
n.3867T>C
c.2439T>C (p.Ala813=)
c.2214T>C (p.Ala738=)
c.3309T>C (p.Ala1103=)
c.1282T>C
c.*605T>C (n.*605T>C)
n.4248T>C
n.2849T>C
c.3360T>C (p.Ala1120=)
c.3408T>C (p.Ala1136=)
c.3468T>C (p.Ala1156=)
c.3018T>C (p.Ala1006=)
c.1320T>C (p.Ala440=)
c.1137T>C (p.Ala379=)
c.3369T>C (p.Ala1123=)
c.3321T>C (p.Ala1107=)
c.3090T>C (p.Ala1030=)
c.2991T>C (p.Ala997=)
c.2172T>C (p.Ala724=)
n.3723T>C
 ClinVar gnomAD v4
13g.51941133A>TCA6988670ATP7Bc.*1154T>A (n.*1154T>A)
c.*2248T>A (n.*2248T>A)
c.2883T>A (p.Ala961=)
c.3504T>A (p.Ala1168=)
c.3171T>A (p.Ala1057=)
c.3252T>A (p.Ala1084=)
c.3270T>A (p.Ala1090=)
n.3643T>A
n.3867T>A
c.2439T>A (p.Ala813=)
c.2214T>A (p.Ala738=)
c.3309T>A (p.Ala1103=)
c.1282T>A
c.*605T>A (n.*605T>A)
n.4248T>A
n.2849T>A
c.3360T>A (p.Ala1120=)
c.3408T>A (p.Ala1136=)
c.3468T>A (p.Ala1156=)
c.3018T>A (p.Ala1006=)
c.1320T>A (p.Ala440=)
c.1137T>A (p.Ala379=)
c.3369T>A (p.Ala1123=)
c.3321T>A (p.Ala1107=)
c.3090T>A (p.Ala1030=)
c.2991T>A (p.Ala997=)
c.2172T>A (p.Ala724=)
n.3723T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941134G>ACA388026307ATP7Bc.*1153C>T (n.*1153C>T)
c.*2247C>T (n.*2247C>T)
c.2882C>T (p.Ala961Val)
c.3503C>T (p.Ala1168Val)
c.3170C>T (p.Ala1057Val)
c.3251C>T (p.Ala1084Val)
c.3269C>T (p.Ala1090Val)
n.3642C>T
n.3866C>T
c.2438C>T (p.Ala813Val)
c.2213C>T (p.Ala738Val)
c.3308C>T (p.Ala1103Val)
c.1281C>T
c.*604C>T (n.*604C>T)
n.4247C>T
n.2848C>T
c.3359C>T (p.Ala1120Val)
c.3407C>T (p.Ala1136Val)
c.3467C>T (p.Ala1156Val)
c.3017C>T (p.Ala1006Val)
c.1319C>T (p.Ala440Val)
c.1136C>T (p.Ala379Val)
c.3368C>T (p.Ala1123Val)
c.3320C>T (p.Ala1107Val)
c.3089C>T (p.Ala1030Val)
c.2990C>T (p.Ala997Val)
c.2171C>T (p.Ala724Val)
n.3722C>T
13g.51941134G>CCA388026305ATP7Bc.*1153C>G (n.*1153C>G)
c.*2247C>G (n.*2247C>G)
c.2882C>G (p.Ala961Gly)
c.3503C>G (p.Ala1168Gly)
c.3170C>G (p.Ala1057Gly)
c.3251C>G (p.Ala1084Gly)
c.3269C>G (p.Ala1090Gly)
n.3642C>G
n.3866C>G
c.2438C>G (p.Ala813Gly)
c.2213C>G (p.Ala738Gly)
c.3308C>G (p.Ala1103Gly)
c.1281C>G
c.*604C>G (n.*604C>G)
n.4247C>G
n.2848C>G
c.3359C>G (p.Ala1120Gly)
c.3407C>G (p.Ala1136Gly)
c.3467C>G (p.Ala1156Gly)
c.3017C>G (p.Ala1006Gly)
c.1319C>G (p.Ala440Gly)
c.1136C>G (p.Ala379Gly)
c.3368C>G (p.Ala1123Gly)
c.3320C>G (p.Ala1107Gly)
c.3089C>G (p.Ala1030Gly)
c.2990C>G (p.Ala997Gly)
c.2171C>G (p.Ala724Gly)
n.3722C>G
13g.51941134G>TCA388026303ATP7Bc.*1153C>A (n.*1153C>A)
c.*2247C>A (n.*2247C>A)
c.2882C>A (p.Ala961Asp)
c.3503C>A (p.Ala1168Asp)
c.3170C>A (p.Ala1057Asp)
c.3251C>A (p.Ala1084Asp)
c.3269C>A (p.Ala1090Asp)
n.3642C>A
n.3866C>A
c.2438C>A (p.Ala813Asp)
c.2213C>A (p.Ala738Asp)
c.3308C>A (p.Ala1103Asp)
c.1281C>A
c.*604C>A (n.*604C>A)
n.4247C>A
n.2848C>A
c.3359C>A (p.Ala1120Asp)
c.3407C>A (p.Ala1136Asp)
c.3467C>A (p.Ala1156Asp)
c.3017C>A (p.Ala1006Asp)
c.1319C>A (p.Ala440Asp)
c.1136C>A (p.Ala379Asp)
c.3368C>A (p.Ala1123Asp)
c.3320C>A (p.Ala1107Asp)
c.3089C>A (p.Ala1030Asp)
c.2990C>A (p.Ala997Asp)
c.2171C>A (p.Ala724Asp)
n.3722C>A
 gnomAD v4
13g.51941135C>ACA6988672ATP7Bc.*1152G>T (n.*1152G>T)
c.*2246G>T (n.*2246G>T)
c.2881G>T (p.Ala961Ser)
c.3502G>T (p.Ala1168Ser)
c.3169G>T (p.Ala1057Ser)
c.3250G>T (p.Ala1084Ser)
c.3268G>T (p.Ala1090Ser)
n.3641G>T
n.3865G>T
c.2437G>T (p.Ala813Ser)
c.2212G>T (p.Ala738Ser)
c.3307G>T (p.Ala1103Ser)
c.1280G>T
c.*603G>T (n.*603G>T)
n.4246G>T
n.2847G>T
c.3358G>T (p.Ala1120Ser)
c.3406G>T (p.Ala1136Ser)
c.3466G>T (p.Ala1156Ser)
c.3016G>T (p.Ala1006Ser)
c.1318G>T (p.Ala440Ser)
c.1135G>T (p.Ala379Ser)
c.3367G>T (p.Ala1123Ser)
c.3319G>T (p.Ala1107Ser)
c.3088G>T (p.Ala1030Ser)
c.2989G>T (p.Ala997Ser)
c.2170G>T (p.Ala724Ser)
n.3721G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941135C=CA2091559442ATP7Bc.*1152G= (n.*1152G=)
c.*2246G= (n.*2246G=)
c.2881G= (p.Ala961=)
c.3502G= (p.Ala1168=)
c.3169G= (p.Ala1057=)
c.3250G= (p.Ala1084=)
c.3268G= (p.Ala1090=)
n.3641G=
n.3865G=
c.2437G= (p.Ala813=)
c.2212G= (p.Ala738=)
c.3307G= (p.Ala1103=)
c.1280G=
c.*603G= (n.*603G=)
n.4246G=
n.2847G=
c.3358G= (p.Ala1120=)
c.3406G= (p.Ala1136=)
c.3466G= (p.Ala1156=)
c.3016G= (p.Ala1006=)
c.1318G= (p.Ala440=)
c.1135G= (p.Ala379=)
c.3367G= (p.Ala1123=)
c.3319G= (p.Ala1107=)
c.3088G= (p.Ala1030=)
c.2989G= (p.Ala997=)
c.2170G= (p.Ala724=)
n.3721G=
13g.51941135C>GCA388026312ATP7Bc.*1152G>C (n.*1152G>C)
c.*2246G>C (n.*2246G>C)
c.2881G>C (p.Ala961Pro)
c.3502G>C (p.Ala1168Pro)
c.3169G>C (p.Ala1057Pro)
c.3250G>C (p.Ala1084Pro)
c.3268G>C (p.Ala1090Pro)
n.3641G>C
n.3865G>C
c.2437G>C (p.Ala813Pro)
c.2212G>C (p.Ala738Pro)
c.3307G>C (p.Ala1103Pro)
c.1280G>C
c.*603G>C (n.*603G>C)
n.4246G>C
n.2847G>C
c.3358G>C (p.Ala1120Pro)
c.3406G>C (p.Ala1136Pro)
c.3466G>C (p.Ala1156Pro)
c.3016G>C (p.Ala1006Pro)
c.1318G>C (p.Ala440Pro)
c.1135G>C (p.Ala379Pro)
c.3367G>C (p.Ala1123Pro)
c.3319G>C (p.Ala1107Pro)
c.3088G>C (p.Ala1030Pro)
c.2989G>C (p.Ala997Pro)
c.2170G>C (p.Ala724Pro)
n.3721G>C
13g.51941135C>TCA6988671ATP7Bc.*1152G>A (n.*1152G>A)
c.*2246G>A (n.*2246G>A)
c.2881G>A (p.Ala961Thr)
c.3502G>A (p.Ala1168Thr)
c.3169G>A (p.Ala1057Thr)
c.3250G>A (p.Ala1084Thr)
c.3268G>A (p.Ala1090Thr)
n.3641G>A
n.3865G>A
c.2437G>A (p.Ala813Thr)
c.2212G>A (p.Ala738Thr)
c.3307G>A (p.Ala1103Thr)
c.1280G>A
c.*603G>A (n.*603G>A)
n.4246G>A
n.2847G>A
c.3358G>A (p.Ala1120Thr)
c.3406G>A (p.Ala1136Thr)
c.3466G>A (p.Ala1156Thr)
c.3016G>A (p.Ala1006Thr)
c.1318G>A (p.Ala440Thr)
c.1135G>A (p.Ala379Thr)
c.3367G>A (p.Ala1123Thr)
c.3319G>A (p.Ala1107Thr)
c.3088G>A (p.Ala1030Thr)
c.2989G>A (p.Ala997Thr)
c.2170G>A (p.Ala724Thr)
n.3721G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941136G>ACA6988673ATP7Bc.*1151C>T (n.*1151C>T)
c.*2245C>T (n.*2245C>T)
c.2880C>T (p.Asp960=)
c.3501C>T (p.Asp1167=)
c.3168C>T (p.Asp1056=)
c.3249C>T (p.Asp1083=)
c.3267C>T (p.Asp1089=)
n.3640C>T
n.3864C>T
c.2436C>T (p.Asp812=)
c.2211C>T (p.Asp737=)
c.3306C>T (p.Asp1102=)
c.1279C>T
c.*602C>T (n.*602C>T)
n.4245C>T
n.2846C>T
c.3357C>T (p.Asp1119=)
c.3405C>T (p.Asp1135=)
c.3465C>T (p.Asp1155=)
c.3015C>T (p.Asp1005=)
c.1317C>T (p.Asp439=)
c.1134C>T (p.Asp378=)
c.3366C>T (p.Asp1122=)
c.3318C>T (p.Asp1106=)
c.3087C>T (p.Asp1029=)
c.2988C>T (p.Asp996=)
c.2169C>T (p.Asp723=)
n.3720C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941136G>CCA388026317ATP7Bc.*1151C>G (n.*1151C>G)
c.*2245C>G (n.*2245C>G)
c.2880C>G (p.Asp960Glu)
c.3501C>G (p.Asp1167Glu)
c.3168C>G (p.Asp1056Glu)
c.3249C>G (p.Asp1083Glu)
c.3267C>G (p.Asp1089Glu)
n.3640C>G
n.3864C>G
c.2436C>G (p.Asp812Glu)
c.2211C>G (p.Asp737Glu)
c.3306C>G (p.Asp1102Glu)
c.1279C>G
c.*602C>G (n.*602C>G)
n.4245C>G
n.2846C>G
c.3357C>G (p.Asp1119Glu)
c.3405C>G (p.Asp1135Glu)
c.3465C>G (p.Asp1155Glu)
c.3015C>G (p.Asp1005Glu)
c.1317C>G (p.Asp439Glu)
c.1134C>G (p.Asp378Glu)
c.3366C>G (p.Asp1122Glu)
c.3318C>G (p.Asp1106Glu)
c.3087C>G (p.Asp1029Glu)
c.2988C>G (p.Asp996Glu)
c.2169C>G (p.Asp723Glu)
n.3720C>G

Number of alleles fetched