Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51934817T>ACA388019002ATP7Bc.*1987A>T (n.*1987A>T)
c.*3081A>T (n.*3081A>T)
c.3716A>T (p.Asp1239Val)
c.4337A>T (p.Asp1446Val)
c.4004A>T (p.Asp1335Val)
c.4085A>T (p.Asp1362Val)
n.1660A>T
c.4103A>T (p.Asp1368Val)
n.4476A>T
n.1203A>T
c.3272A>T (p.Asp1091Val)
c.3047A>T (p.Asp1016Val)
c.4142A>T (p.Asp1381Val)
c.2115A>T
c.*1438A>T (n.*1438A>T)
n.5081A>T
n.3682A>T
c.4193A>T (p.Asp1398Val)
c.4241A>T (p.Asp1414Val)
c.4301A>T (p.Asp1434Val)
c.3851A>T (p.Asp1284Val)
c.2153A>T (p.Asp718Val)
c.1970A>T (p.Asp657Val)
c.4202A>T (p.Asp1401Val)
c.4154A>T (p.Asp1385Val)
c.3923A>T (p.Asp1308Val)
c.3824A>T (p.Asp1275Val)
c.3005A>T (p.Asp1002Val)
n.4556A>T
13g.51934817T>CCA6988416ATP7Bc.*1987A>G (n.*1987A>G)
c.*3081A>G (n.*3081A>G)
c.3716A>G (p.Asp1239Gly)
c.4337A>G (p.Asp1446Gly)
c.4004A>G (p.Asp1335Gly)
c.4085A>G (p.Asp1362Gly)
n.1660A>G
c.4103A>G (p.Asp1368Gly)
n.4476A>G
n.1203A>G
c.3272A>G (p.Asp1091Gly)
c.3047A>G (p.Asp1016Gly)
c.4142A>G (p.Asp1381Gly)
c.2115A>G
c.*1438A>G (n.*1438A>G)
n.5081A>G
n.3682A>G
c.4193A>G (p.Asp1398Gly)
c.4241A>G (p.Asp1414Gly)
c.4301A>G (p.Asp1434Gly)
c.3851A>G (p.Asp1284Gly)
c.2153A>G (p.Asp718Gly)
c.1970A>G (p.Asp657Gly)
c.4202A>G (p.Asp1401Gly)
c.4154A>G (p.Asp1385Gly)
c.3923A>G (p.Asp1308Gly)
c.3824A>G (p.Asp1275Gly)
c.3005A>G (p.Asp1002Gly)
n.4556A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934817T>GCA388019001ATP7Bc.*1987A>C (n.*1987A>C)
c.*3081A>C (n.*3081A>C)
c.3716A>C (p.Asp1239Ala)
c.4337A>C (p.Asp1446Ala)
c.4004A>C (p.Asp1335Ala)
c.4085A>C (p.Asp1362Ala)
n.1660A>C
c.4103A>C (p.Asp1368Ala)
n.4476A>C
n.1203A>C
c.3272A>C (p.Asp1091Ala)
c.3047A>C (p.Asp1016Ala)
c.4142A>C (p.Asp1381Ala)
c.2115A>C
c.*1438A>C (n.*1438A>C)
n.5081A>C
n.3682A>C
c.4193A>C (p.Asp1398Ala)
c.4241A>C (p.Asp1414Ala)
c.4301A>C (p.Asp1434Ala)
c.3851A>C (p.Asp1284Ala)
c.2153A>C (p.Asp718Ala)
c.1970A>C (p.Asp657Ala)
c.4202A>C (p.Asp1401Ala)
c.4154A>C (p.Asp1385Ala)
c.3923A>C (p.Asp1308Ala)
c.3824A>C (p.Asp1275Ala)
c.3005A>C (p.Asp1002Ala)
n.4556A>C
13g.51934817T=CA2091550222ATP7Bc.*1987A= (n.*1987A=)
c.*3081A= (n.*3081A=)
c.3716A= (p.Asp1239=)
c.4337A= (p.Asp1446=)
c.4004A= (p.Asp1335=)
c.4085A= (p.Asp1362=)
n.1660A=
c.4103A= (p.Asp1368=)
n.4476A=
n.1203A=
c.3272A= (p.Asp1091=)
c.3047A= (p.Asp1016=)
c.4142A= (p.Asp1381=)
c.2115A=
c.*1438A= (n.*1438A=)
n.5081A=
n.3682A=
c.4193A= (p.Asp1398=)
c.4241A= (p.Asp1414=)
c.4301A= (p.Asp1434=)
c.3851A= (p.Asp1284=)
c.2153A= (p.Asp718=)
c.1970A= (p.Asp657=)
c.4202A= (p.Asp1401=)
c.4154A= (p.Asp1385=)
c.3923A= (p.Asp1308=)
c.3824A= (p.Asp1275=)
c.3005A= (p.Asp1002=)
n.4556A=
13g.51934817dupCA912974786ATP7Bc.*1987dup (n.*1987dup)
c.*3081dup (n.*3081dup)
c.3716dup (p.Asp1239GlufsTer3)
c.4337dup (p.Asp1446GlufsTer3)
c.4004dup (p.Asp1335GlufsTer3)
c.4085dup (p.Asp1362GlufsTer3)
n.1660dup
c.4103dup (p.Asp1368GlufsTer3)
n.4476dup
n.1203dup
c.3272dup (p.Asp1091GlufsTer3)
c.3047dup (p.Asp1016GlufsTer3)
c.4142dup (p.Asp1381GlufsTer3)
c.2115dup
c.*1438dup (n.*1438dup)
n.5081dup
n.3682dup
c.4193dup (p.Asp1398GlufsTer3)
c.4241dup (p.Asp1414GlufsTer3)
c.4301dup (p.Asp1434GlufsTer3)
c.3851dup (p.Asp1284GlufsTer3)
c.2153dup (p.Asp718GlufsTer3)
c.1970dup (p.Asp657GlufsTer3)
c.4202dup (p.Asp1401GlufsTer3)
c.4154dup (p.Asp1385GlufsTer3)
c.3923dup (p.Asp1308GlufsTer3)
c.3824dup (p.Asp1275GlufsTer3)
c.3005dup (p.Asp1002GlufsTer3)
n.4556dup
13g.51934818C>ACA388019003ATP7Bc.*1986G>T (n.*1986G>T)
c.*3080G>T (n.*3080G>T)
c.3715G>T (p.Asp1239Tyr)
c.4336G>T (p.Asp1446Tyr)
c.4003G>T (p.Asp1335Tyr)
c.4084G>T (p.Asp1362Tyr)
n.1659G>T
c.4102G>T (p.Asp1368Tyr)
n.4475G>T
n.1202G>T
c.3271G>T (p.Asp1091Tyr)
c.3046G>T (p.Asp1016Tyr)
c.4141G>T (p.Asp1381Tyr)
c.2114G>T
c.*1437G>T (n.*1437G>T)
n.5080G>T
n.3681G>T
c.4192G>T (p.Asp1398Tyr)
c.4240G>T (p.Asp1414Tyr)
c.4300G>T (p.Asp1434Tyr)
c.3850G>T (p.Asp1284Tyr)
c.2152G>T (p.Asp718Tyr)
c.1969G>T (p.Asp657Tyr)
c.4201G>T (p.Asp1401Tyr)
c.4153G>T (p.Asp1385Tyr)
c.3922G>T (p.Asp1308Tyr)
c.3823G>T (p.Asp1275Tyr)
c.3004G>T (p.Asp1002Tyr)
n.4555G>T
13g.51934818C>GCA388019004ATP7Bc.*1986G>C (n.*1986G>C)
c.*3080G>C (n.*3080G>C)
c.3715G>C (p.Asp1239His)
c.4336G>C (p.Asp1446His)
c.4003G>C (p.Asp1335His)
c.4084G>C (p.Asp1362His)
n.1659G>C
c.4102G>C (p.Asp1368His)
n.4475G>C
n.1202G>C
c.3271G>C (p.Asp1091His)
c.3046G>C (p.Asp1016His)
c.4141G>C (p.Asp1381His)
c.2114G>C
c.*1437G>C (n.*1437G>C)
n.5080G>C
n.3681G>C
c.4192G>C (p.Asp1398His)
c.4240G>C (p.Asp1414His)
c.4300G>C (p.Asp1434His)
c.3850G>C (p.Asp1284His)
c.2152G>C (p.Asp718His)
c.1969G>C (p.Asp657His)
c.4201G>C (p.Asp1401His)
c.4153G>C (p.Asp1385His)
c.3922G>C (p.Asp1308His)
c.3823G>C (p.Asp1275His)
c.3004G>C (p.Asp1002His)
n.4555G>C
13g.51934818C>TCA388019007ATP7Bc.*1986G>A (n.*1986G>A)
c.*3080G>A (n.*3080G>A)
c.3715G>A (p.Asp1239Asn)
c.4336G>A (p.Asp1446Asn)
c.4003G>A (p.Asp1335Asn)
c.4084G>A (p.Asp1362Asn)
n.1659G>A
c.4102G>A (p.Asp1368Asn)
n.4475G>A
n.1202G>A
c.3271G>A (p.Asp1091Asn)
c.3046G>A (p.Asp1016Asn)
c.4141G>A (p.Asp1381Asn)
c.2114G>A
c.*1437G>A (n.*1437G>A)
n.5080G>A
n.3681G>A
c.4192G>A (p.Asp1398Asn)
c.4240G>A (p.Asp1414Asn)
c.4300G>A (p.Asp1434Asn)
c.3850G>A (p.Asp1284Asn)
c.2152G>A (p.Asp718Asn)
c.1969G>A (p.Asp657Asn)
c.4201G>A (p.Asp1401Asn)
c.4153G>A (p.Asp1385Asn)
c.3922G>A (p.Asp1308Asn)
c.3823G>A (p.Asp1275Asn)
c.3004G>A (p.Asp1002Asn)
n.4555G>A
13g.51934818dupCA658823689ATP7Bc.*1986dup (n.*1986dup)
c.*3080dup (n.*3080dup)
c.3715dup (p.Asp1239GlyfsTer3)
c.4336dup (p.Asp1446GlyfsTer3)
c.4003dup (p.Asp1335GlyfsTer3)
c.4084dup (p.Asp1362GlyfsTer3)
n.1659dup
c.4102dup (p.Asp1368GlyfsTer3)
n.4475dup
n.1202dup
c.3271dup (p.Asp1091GlyfsTer3)
c.3046dup (p.Asp1016GlyfsTer3)
c.4141dup (p.Asp1381GlyfsTer3)
c.2114dup
c.*1437dup (n.*1437dup)
n.5080dup
n.3681dup
c.4192dup (p.Asp1398GlyfsTer3)
c.4240dup (p.Asp1414GlyfsTer3)
c.4300dup (p.Asp1434GlyfsTer3)
c.3850dup (p.Asp1284GlyfsTer3)
c.2152dup (p.Asp718GlyfsTer3)
c.1969dup (p.Asp657GlyfsTer3)
c.4201dup (p.Asp1401GlyfsTer3)
c.4153dup (p.Asp1385GlyfsTer3)
c.3922dup (p.Asp1308GlyfsTer3)
c.3823dup (p.Asp1275GlyfsTer3)
c.3004dup (p.Asp1002GlyfsTer3)
n.4555dup
 ClinVar dbSNP
13g.51934819T>ACA484024078ATP7Bc.*1985A>T (n.*1985A>T)
c.*3079A>T (n.*3079A>T)
c.3714A>T (p.Ala1238=)
c.4335A>T (p.Ala1445=)
c.4002A>T (p.Ala1334=)
c.4083A>T (p.Ala1361=)
n.1658A>T
c.4101A>T (p.Ala1367=)
n.4474A>T
n.1201A>T
c.3270A>T (p.Ala1090=)
c.3045A>T (p.Ala1015=)
c.4140A>T (p.Ala1380=)
c.2113A>T
c.*1436A>T (n.*1436A>T)
n.5079A>T
n.3680A>T
c.4191A>T (p.Ala1397=)
c.4239A>T (p.Ala1413=)
c.4299A>T (p.Ala1433=)
c.3849A>T (p.Ala1283=)
c.2151A>T (p.Ala717=)
c.1968A>T (p.Ala656=)
c.4200A>T (p.Ala1400=)
c.4152A>T (p.Ala1384=)
c.3921A>T (p.Ala1307=)
c.3822A>T (p.Ala1274=)
c.3003A>T (p.Ala1001=)
n.4554A>T
13g.51934819T>CCA484024079ATP7Bc.*1985A>G (n.*1985A>G)
c.*3079A>G (n.*3079A>G)
c.3714A>G (p.Ala1238=)
c.4335A>G (p.Ala1445=)
c.4002A>G (p.Ala1334=)
c.4083A>G (p.Ala1361=)
n.1658A>G
c.4101A>G (p.Ala1367=)
n.4474A>G
n.1201A>G
c.3270A>G (p.Ala1090=)
c.3045A>G (p.Ala1015=)
c.4140A>G (p.Ala1380=)
c.2113A>G
c.*1436A>G (n.*1436A>G)
n.5079A>G
n.3680A>G
c.4191A>G (p.Ala1397=)
c.4239A>G (p.Ala1413=)
c.4299A>G (p.Ala1433=)
c.3849A>G (p.Ala1283=)
c.2151A>G (p.Ala717=)
c.1968A>G (p.Ala656=)
c.4200A>G (p.Ala1400=)
c.4152A>G (p.Ala1384=)
c.3921A>G (p.Ala1307=)
c.3822A>G (p.Ala1274=)
c.3003A>G (p.Ala1001=)
n.4554A>G
13g.51934819T>GCA484024080ATP7Bc.*1985A>C (n.*1985A>C)
c.*3079A>C (n.*3079A>C)
c.3714A>C (p.Ala1238=)
c.4335A>C (p.Ala1445=)
c.4002A>C (p.Ala1334=)
c.4083A>C (p.Ala1361=)
n.1658A>C
c.4101A>C (p.Ala1367=)
n.4474A>C
n.1201A>C
c.3270A>C (p.Ala1090=)
c.3045A>C (p.Ala1015=)
c.4140A>C (p.Ala1380=)
c.2113A>C
c.*1436A>C (n.*1436A>C)
n.5079A>C
n.3680A>C
c.4191A>C (p.Ala1397=)
c.4239A>C (p.Ala1413=)
c.4299A>C (p.Ala1433=)
c.3849A>C (p.Ala1283=)
c.2151A>C (p.Ala717=)
c.1968A>C (p.Ala656=)
c.4200A>C (p.Ala1400=)
c.4152A>C (p.Ala1384=)
c.3921A>C (p.Ala1307=)
c.3822A>C (p.Ala1274=)
c.3003A>C (p.Ala1001=)
n.4554A>C
13g.51934820G>ACA6988417ATP7Bc.*1984C>T (n.*1984C>T)
c.*3078C>T (n.*3078C>T)
c.3713C>T (p.Ala1238Val)
c.4334C>T (p.Ala1445Val)
c.4001C>T (p.Ala1334Val)
c.4082C>T (p.Ala1361Val)
n.1657C>T
c.4100C>T (p.Ala1367Val)
n.4473C>T
n.1200C>T
c.3269C>T (p.Ala1090Val)
c.3044C>T (p.Ala1015Val)
c.4139C>T (p.Ala1380Val)
c.2112C>T
c.*1435C>T (n.*1435C>T)
n.5078C>T
n.3679C>T
c.4190C>T (p.Ala1397Val)
c.4238C>T (p.Ala1413Val)
c.4298C>T (p.Ala1433Val)
c.3848C>T (p.Ala1283Val)
c.2150C>T (p.Ala717Val)
c.1967C>T (p.Ala656Val)
c.4199C>T (p.Ala1400Val)
c.4151C>T (p.Ala1384Val)
c.3920C>T (p.Ala1307Val)
c.3821C>T (p.Ala1274Val)
c.3002C>T (p.Ala1001Val)
n.4553C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934820G>CCA388019009ATP7Bc.*1984C>G (n.*1984C>G)
c.*3078C>G (n.*3078C>G)
c.3713C>G (p.Ala1238Gly)
c.4334C>G (p.Ala1445Gly)
c.4001C>G (p.Ala1334Gly)
c.4082C>G (p.Ala1361Gly)
n.1657C>G
c.4100C>G (p.Ala1367Gly)
n.4473C>G
n.1200C>G
c.3269C>G (p.Ala1090Gly)
c.3044C>G (p.Ala1015Gly)
c.4139C>G (p.Ala1380Gly)
c.2112C>G
c.*1435C>G (n.*1435C>G)
n.5078C>G
n.3679C>G
c.4190C>G (p.Ala1397Gly)
c.4238C>G (p.Ala1413Gly)
c.4298C>G (p.Ala1433Gly)
c.3848C>G (p.Ala1283Gly)
c.2150C>G (p.Ala717Gly)
c.1967C>G (p.Ala656Gly)
c.4199C>G (p.Ala1400Gly)
c.4151C>G (p.Ala1384Gly)
c.3920C>G (p.Ala1307Gly)
c.3821C>G (p.Ala1274Gly)
c.3002C>G (p.Ala1001Gly)
n.4553C>G
 gnomAD v4
13g.51934820G=CA2091550225ATP7Bc.*1984C= (n.*1984C=)
c.*3078C= (n.*3078C=)
c.3713C= (p.Ala1238=)
c.4334C= (p.Ala1445=)
c.4001C= (p.Ala1334=)
c.4082C= (p.Ala1361=)
n.1657C=
c.4100C= (p.Ala1367=)
n.4473C=
n.1200C=
c.3269C= (p.Ala1090=)
c.3044C= (p.Ala1015=)
c.4139C= (p.Ala1380=)
c.2112C=
c.*1435C= (n.*1435C=)
n.5078C=
n.3679C=
c.4190C= (p.Ala1397=)
c.4238C= (p.Ala1413=)
c.4298C= (p.Ala1433=)
c.3848C= (p.Ala1283=)
c.2150C= (p.Ala717=)
c.1967C= (p.Ala656=)
c.4199C= (p.Ala1400=)
c.4151C= (p.Ala1384=)
c.3920C= (p.Ala1307=)
c.3821C= (p.Ala1274=)
c.3002C= (p.Ala1001=)
n.4553C=
13g.51934820G>TCA388019011ATP7Bc.*1984C>A (n.*1984C>A)
c.*3078C>A (n.*3078C>A)
c.3713C>A (p.Ala1238Glu)
c.4334C>A (p.Ala1445Glu)
c.4001C>A (p.Ala1334Glu)
c.4082C>A (p.Ala1361Glu)
n.1657C>A
c.4100C>A (p.Ala1367Glu)
n.4473C>A
n.1200C>A
c.3269C>A (p.Ala1090Glu)
c.3044C>A (p.Ala1015Glu)
c.4139C>A (p.Ala1380Glu)
c.2112C>A
c.*1435C>A (n.*1435C>A)
n.5078C>A
n.3679C>A
c.4190C>A (p.Ala1397Glu)
c.4238C>A (p.Ala1413Glu)
c.4298C>A (p.Ala1433Glu)
c.3848C>A (p.Ala1283Glu)
c.2150C>A (p.Ala717Glu)
c.1967C>A (p.Ala656Glu)
c.4199C>A (p.Ala1400Glu)
c.4151C>A (p.Ala1384Glu)
c.3920C>A (p.Ala1307Glu)
c.3821C>A (p.Ala1274Glu)
c.3002C>A (p.Ala1001Glu)
n.4553C>A
13g.51934821C>ACA388019013ATP7Bc.*1983G>T (n.*1983G>T)
c.*3077G>T (n.*3077G>T)
c.3712G>T (p.Ala1238Ser)
c.4333G>T (p.Ala1445Ser)
c.4000G>T (p.Ala1334Ser)
c.4081G>T (p.Ala1361Ser)
n.1656G>T
c.4099G>T (p.Ala1367Ser)
n.4472G>T
n.1199G>T
c.3268G>T (p.Ala1090Ser)
c.3043G>T (p.Ala1015Ser)
c.4138G>T (p.Ala1380Ser)
c.2111G>T
c.*1434G>T (n.*1434G>T)
n.5077G>T
n.3678G>T
c.4189G>T (p.Ala1397Ser)
c.4237G>T (p.Ala1413Ser)
c.4297G>T (p.Ala1433Ser)
c.3847G>T (p.Ala1283Ser)
c.2149G>T (p.Ala717Ser)
c.1966G>T (p.Ala656Ser)
c.4198G>T (p.Ala1400Ser)
c.4150G>T (p.Ala1384Ser)
c.3919G>T (p.Ala1307Ser)
c.3820G>T (p.Ala1274Ser)
c.3001G>T (p.Ala1001Ser)
n.4552G>T
13g.51934821C>GCA388019015ATP7Bc.*1983G>C (n.*1983G>C)
c.*3077G>C (n.*3077G>C)
c.3712G>C (p.Ala1238Pro)
c.4333G>C (p.Ala1445Pro)
c.4000G>C (p.Ala1334Pro)
c.4081G>C (p.Ala1361Pro)
n.1656G>C
c.4099G>C (p.Ala1367Pro)
n.4472G>C
n.1199G>C
c.3268G>C (p.Ala1090Pro)
c.3043G>C (p.Ala1015Pro)
c.4138G>C (p.Ala1380Pro)
c.2111G>C
c.*1434G>C (n.*1434G>C)
n.5077G>C
n.3678G>C
c.4189G>C (p.Ala1397Pro)
c.4237G>C (p.Ala1413Pro)
c.4297G>C (p.Ala1433Pro)
c.3847G>C (p.Ala1283Pro)
c.2149G>C (p.Ala717Pro)
c.1966G>C (p.Ala656Pro)
c.4198G>C (p.Ala1400Pro)
c.4150G>C (p.Ala1384Pro)
c.3919G>C (p.Ala1307Pro)
c.3820G>C (p.Ala1274Pro)
c.3001G>C (p.Ala1001Pro)
n.4552G>C
13g.51934821C>TCA388019017ATP7Bc.*1983G>A (n.*1983G>A)
c.*3077G>A (n.*3077G>A)
c.3712G>A (p.Ala1238Thr)
c.4333G>A (p.Ala1445Thr)
c.4000G>A (p.Ala1334Thr)
c.4081G>A (p.Ala1361Thr)
n.1656G>A
c.4099G>A (p.Ala1367Thr)
n.4472G>A
n.1199G>A
c.3268G>A (p.Ala1090Thr)
c.3043G>A (p.Ala1015Thr)
c.4138G>A (p.Ala1380Thr)
c.2111G>A
c.*1434G>A (n.*1434G>A)
n.5077G>A
n.3678G>A
c.4189G>A (p.Ala1397Thr)
c.4237G>A (p.Ala1413Thr)
c.4297G>A (p.Ala1433Thr)
c.3847G>A (p.Ala1283Thr)
c.2149G>A (p.Ala717Thr)
c.1966G>A (p.Ala656Thr)
c.4198G>A (p.Ala1400Thr)
c.4150G>A (p.Ala1384Thr)
c.3919G>A (p.Ala1307Thr)
c.3820G>A (p.Ala1274Thr)
c.3001G>A (p.Ala1001Thr)
n.4552G>A
13g.51934822T>ACA484024081ATP7Bc.*1982A>T (n.*1982A>T)
c.*3076A>T (n.*3076A>T)
c.3711A>T (p.Ala1237=)
c.4332A>T (p.Ala1444=)
c.3999A>T (p.Ala1333=)
c.4080A>T (p.Ala1360=)
n.1655A>T
c.4098A>T (p.Ala1366=)
n.4471A>T
n.1198A>T
c.3267A>T (p.Ala1089=)
c.3042A>T (p.Ala1014=)
c.4137A>T (p.Ala1379=)
c.2110A>T
c.*1433A>T (n.*1433A>T)
n.5076A>T
n.3677A>T
c.4188A>T (p.Ala1396=)
c.4236A>T (p.Ala1412=)
c.4296A>T (p.Ala1432=)
c.3846A>T (p.Ala1282=)
c.2148A>T (p.Ala716=)
c.1965A>T (p.Ala655=)
c.4197A>T (p.Ala1399=)
c.4149A>T (p.Ala1383=)
c.3918A>T (p.Ala1306=)
c.3819A>T (p.Ala1273=)
c.3000A>T (p.Ala1000=)
n.4551A>T
13g.51934822T>CCA484024082ATP7Bc.*1982A>G (n.*1982A>G)
c.*3076A>G (n.*3076A>G)
c.3711A>G (p.Ala1237=)
c.4332A>G (p.Ala1444=)
c.3999A>G (p.Ala1333=)
c.4080A>G (p.Ala1360=)
n.1655A>G
c.4098A>G (p.Ala1366=)
n.4471A>G
n.1198A>G
c.3267A>G (p.Ala1089=)
c.3042A>G (p.Ala1014=)
c.4137A>G (p.Ala1379=)
c.2110A>G
c.*1433A>G (n.*1433A>G)
n.5076A>G
n.3677A>G
c.4188A>G (p.Ala1396=)
c.4236A>G (p.Ala1412=)
c.4296A>G (p.Ala1432=)
c.3846A>G (p.Ala1282=)
c.2148A>G (p.Ala716=)
c.1965A>G (p.Ala655=)
c.4197A>G (p.Ala1399=)
c.4149A>G (p.Ala1383=)
c.3918A>G (p.Ala1306=)
c.3819A>G (p.Ala1273=)
c.3000A>G (p.Ala1000=)
n.4551A>G
 ClinVar
13g.51934822T>GCA484024083ATP7Bc.*1982A>C (n.*1982A>C)
c.*3076A>C (n.*3076A>C)
c.3711A>C (p.Ala1237=)
c.4332A>C (p.Ala1444=)
c.3999A>C (p.Ala1333=)
c.4080A>C (p.Ala1360=)
n.1655A>C
c.4098A>C (p.Ala1366=)
n.4471A>C
n.1198A>C
c.3267A>C (p.Ala1089=)
c.3042A>C (p.Ala1014=)
c.4137A>C (p.Ala1379=)
c.2110A>C
c.*1433A>C (n.*1433A>C)
n.5076A>C
n.3677A>C
c.4188A>C (p.Ala1396=)
c.4236A>C (p.Ala1412=)
c.4296A>C (p.Ala1432=)
c.3846A>C (p.Ala1282=)
c.2148A>C (p.Ala716=)
c.1965A>C (p.Ala655=)
c.4197A>C (p.Ala1399=)
c.4149A>C (p.Ala1383=)
c.3918A>C (p.Ala1306=)
c.3819A>C (p.Ala1273=)
c.3000A>C (p.Ala1000=)
n.4551A>C
13g.51934823G>ACA388019018ATP7Bc.*1981C>T (n.*1981C>T)
c.*3075C>T (n.*3075C>T)
c.3710C>T (p.Ala1237Val)
c.4331C>T (p.Ala1444Val)
c.3998C>T (p.Ala1333Val)
c.4079C>T (p.Ala1360Val)
n.1654C>T
c.4097C>T (p.Ala1366Val)
n.4470C>T
n.1197C>T
c.3266C>T (p.Ala1089Val)
c.3041C>T (p.Ala1014Val)
c.4136C>T (p.Ala1379Val)
c.2109C>T
c.*1432C>T (n.*1432C>T)
n.5075C>T
n.3676C>T
c.4187C>T (p.Ala1396Val)
c.4235C>T (p.Ala1412Val)
c.4295C>T (p.Ala1432Val)
c.3845C>T (p.Ala1282Val)
c.2147C>T (p.Ala716Val)
c.1964C>T (p.Ala655Val)
c.4196C>T (p.Ala1399Val)
c.4148C>T (p.Ala1383Val)
c.3917C>T (p.Ala1306Val)
c.3818C>T (p.Ala1273Val)
c.2999C>T (p.Ala1000Val)
n.4550C>T
 gnomAD v4
13g.51934823G>CCA388019023ATP7Bc.*1981C>G (n.*1981C>G)
c.*3075C>G (n.*3075C>G)
c.3710C>G (p.Ala1237Gly)
c.4331C>G (p.Ala1444Gly)
c.3998C>G (p.Ala1333Gly)
c.4079C>G (p.Ala1360Gly)
n.1654C>G
c.4097C>G (p.Ala1366Gly)
n.4470C>G
n.1197C>G
c.3266C>G (p.Ala1089Gly)
c.3041C>G (p.Ala1014Gly)
c.4136C>G (p.Ala1379Gly)
c.2109C>G
c.*1432C>G (n.*1432C>G)
n.5075C>G
n.3676C>G
c.4187C>G (p.Ala1396Gly)
c.4235C>G (p.Ala1412Gly)
c.4295C>G (p.Ala1432Gly)
c.3845C>G (p.Ala1282Gly)
c.2147C>G (p.Ala716Gly)
c.1964C>G (p.Ala655Gly)
c.4196C>G (p.Ala1399Gly)
c.4148C>G (p.Ala1383Gly)
c.3917C>G (p.Ala1306Gly)
c.3818C>G (p.Ala1273Gly)
c.2999C>G (p.Ala1000Gly)
n.4550C>G
13g.51934823G>TCA388019026ATP7Bc.*1981C>A (n.*1981C>A)
c.*3075C>A (n.*3075C>A)
c.3710C>A (p.Ala1237Glu)
c.4331C>A (p.Ala1444Glu)
c.3998C>A (p.Ala1333Glu)
c.4079C>A (p.Ala1360Glu)
n.1654C>A
c.4097C>A (p.Ala1366Glu)
n.4470C>A
n.1197C>A
c.3266C>A (p.Ala1089Glu)
c.3041C>A (p.Ala1014Glu)
c.4136C>A (p.Ala1379Glu)
c.2109C>A
c.*1432C>A (n.*1432C>A)
n.5075C>A
n.3676C>A
c.4187C>A (p.Ala1396Glu)
c.4235C>A (p.Ala1412Glu)
c.4295C>A (p.Ala1432Glu)
c.3845C>A (p.Ala1282Glu)
c.2147C>A (p.Ala716Glu)
c.1964C>A (p.Ala655Glu)
c.4196C>A (p.Ala1399Glu)
c.4148C>A (p.Ala1383Glu)
c.3917C>A (p.Ala1306Glu)
c.3818C>A (p.Ala1273Glu)
c.2999C>A (p.Ala1000Glu)
n.4550C>A
 COSMIC
13g.51934824C>ACA388019035ATP7Bc.*1980G>T (n.*1980G>T)
c.*3074G>T (n.*3074G>T)
c.3709G>T (p.Ala1237Ser)
c.4330G>T (p.Ala1444Ser)
c.3997G>T (p.Ala1333Ser)
c.4078G>T (p.Ala1360Ser)
n.1653G>T
c.4096G>T (p.Ala1366Ser)
n.4469G>T
n.1196G>T
c.3265G>T (p.Ala1089Ser)
c.3040G>T (p.Ala1014Ser)
c.4135G>T (p.Ala1379Ser)
c.2108G>T
c.*1431G>T (n.*1431G>T)
n.5074G>T
n.3675G>T
c.4186G>T (p.Ala1396Ser)
c.4234G>T (p.Ala1412Ser)
c.4294G>T (p.Ala1432Ser)
c.3844G>T (p.Ala1282Ser)
c.2146G>T (p.Ala716Ser)
c.1963G>T (p.Ala655Ser)
c.4195G>T (p.Ala1399Ser)
c.4147G>T (p.Ala1383Ser)
c.3916G>T (p.Ala1306Ser)
c.3817G>T (p.Ala1273Ser)
c.2998G>T (p.Ala1000Ser)
n.4549G>T
13g.51934824C=CA2091550227ATP7Bc.*1980G= (n.*1980G=)
c.*3074G= (n.*3074G=)
c.3709G= (p.Ala1237=)
c.4330G= (p.Ala1444=)
c.3997G= (p.Ala1333=)
c.4078G= (p.Ala1360=)
n.1653G=
c.4096G= (p.Ala1366=)
n.4469G=
n.1196G=
c.3265G= (p.Ala1089=)
c.3040G= (p.Ala1014=)
c.4135G= (p.Ala1379=)
c.2108G=
c.*1431G= (n.*1431G=)
n.5074G=
n.3675G=
c.4186G= (p.Ala1396=)
c.4234G= (p.Ala1412=)
c.4294G= (p.Ala1432=)
c.3844G= (p.Ala1282=)
c.2146G= (p.Ala716=)
c.1963G= (p.Ala655=)
c.4195G= (p.Ala1399=)
c.4147G= (p.Ala1383=)
c.3916G= (p.Ala1306=)
c.3817G= (p.Ala1273=)
c.2998G= (p.Ala1000=)
n.4549G=
13g.51934824C>GCA388019032ATP7Bc.*1980G>C (n.*1980G>C)
c.*3074G>C (n.*3074G>C)
c.3709G>C (p.Ala1237Pro)
c.4330G>C (p.Ala1444Pro)
c.3997G>C (p.Ala1333Pro)
c.4078G>C (p.Ala1360Pro)
n.1653G>C
c.4096G>C (p.Ala1366Pro)
n.4469G>C
n.1196G>C
c.3265G>C (p.Ala1089Pro)
c.3040G>C (p.Ala1014Pro)
c.4135G>C (p.Ala1379Pro)
c.2108G>C
c.*1431G>C (n.*1431G>C)
n.5074G>C
n.3675G>C
c.4186G>C (p.Ala1396Pro)
c.4234G>C (p.Ala1412Pro)
c.4294G>C (p.Ala1432Pro)
c.3844G>C (p.Ala1282Pro)
c.2146G>C (p.Ala716Pro)
c.1963G>C (p.Ala655Pro)
c.4195G>C (p.Ala1399Pro)
c.4147G>C (p.Ala1383Pro)
c.3916G>C (p.Ala1306Pro)
c.3817G>C (p.Ala1273Pro)
c.2998G>C (p.Ala1000Pro)
n.4549G>C
13g.51934824C>TCA388019028ATP7Bc.*1980G>A (n.*1980G>A)
c.*3074G>A (n.*3074G>A)
c.3709G>A (p.Ala1237Thr)
c.4330G>A (p.Ala1444Thr)
c.3997G>A (p.Ala1333Thr)
c.4078G>A (p.Ala1360Thr)
n.1653G>A
c.4096G>A (p.Ala1366Thr)
n.4469G>A
n.1196G>A
c.3265G>A (p.Ala1089Thr)
c.3040G>A (p.Ala1014Thr)
c.4135G>A (p.Ala1379Thr)
c.2108G>A
c.*1431G>A (n.*1431G>A)
n.5074G>A
n.3675G>A
c.4186G>A (p.Ala1396Thr)
c.4234G>A (p.Ala1412Thr)
c.4294G>A (p.Ala1432Thr)
c.3844G>A (p.Ala1282Thr)
c.2146G>A (p.Ala716Thr)
c.1963G>A (p.Ala655Thr)
c.4195G>A (p.Ala1399Thr)
c.4147G>A (p.Ala1383Thr)
c.3916G>A (p.Ala1306Thr)
c.3817G>A (p.Ala1273Thr)
c.2998G>A (p.Ala1000Thr)
n.4549G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51934825A=CA2091550228ATP7Bc.*1979T= (n.*1979T=)
c.*3073T= (n.*3073T=)
c.3708T= (p.Ala1236=)
c.4329T= (p.Ala1443=)
c.3996T= (p.Ala1332=)
c.4077T= (p.Ala1359=)
n.1652T=
c.4095T= (p.Ala1365=)
n.4468T=
n.1195T=
c.3264T= (p.Ala1088=)
c.3039T= (p.Ala1013=)
c.4134T= (p.Ala1378=)
c.2107T=
c.*1430T= (n.*1430T=)
n.5073T=
n.3674T=
c.4185T= (p.Ala1395=)
c.4233T= (p.Ala1411=)
c.4293T= (p.Ala1431=)
c.3843T= (p.Ala1281=)
c.2145T= (p.Ala715=)
c.1962T= (p.Ala654=)
c.4194T= (p.Ala1398=)
c.4146T= (p.Ala1382=)
c.3915T= (p.Ala1305=)
c.3816T= (p.Ala1272=)
c.2997T= (p.Ala999=)
n.4548T=
13g.51934825A>CCA484024087ATP7Bc.*1979T>G (n.*1979T>G)
c.*3073T>G (n.*3073T>G)
c.3708T>G (p.Ala1236=)
c.4329T>G (p.Ala1443=)
c.3996T>G (p.Ala1332=)
c.4077T>G (p.Ala1359=)
n.1652T>G
c.4095T>G (p.Ala1365=)
n.4468T>G
n.1195T>G
c.3264T>G (p.Ala1088=)
c.3039T>G (p.Ala1013=)
c.4134T>G (p.Ala1378=)
c.2107T>G
c.*1430T>G (n.*1430T>G)
n.5073T>G
n.3674T>G
c.4185T>G (p.Ala1395=)
c.4233T>G (p.Ala1411=)
c.4293T>G (p.Ala1431=)
c.3843T>G (p.Ala1281=)
c.2145T>G (p.Ala715=)
c.1962T>G (p.Ala654=)
c.4194T>G (p.Ala1398=)
c.4146T>G (p.Ala1382=)
c.3915T>G (p.Ala1305=)
c.3816T>G (p.Ala1272=)
c.2997T>G (p.Ala999=)
n.4548T>G
13g.51934825A>GCA484024088ATP7Bc.*1979T>C (n.*1979T>C)
c.*3073T>C (n.*3073T>C)
c.3708T>C (p.Ala1236=)
c.4329T>C (p.Ala1443=)
c.3996T>C (p.Ala1332=)
c.4077T>C (p.Ala1359=)
n.1652T>C
c.4095T>C (p.Ala1365=)
n.4468T>C
n.1195T>C
c.3264T>C (p.Ala1088=)
c.3039T>C (p.Ala1013=)
c.4134T>C (p.Ala1378=)
c.2107T>C
c.*1430T>C (n.*1430T>C)
n.5073T>C
n.3674T>C
c.4185T>C (p.Ala1395=)
c.4233T>C (p.Ala1411=)
c.4293T>C (p.Ala1431=)
c.3843T>C (p.Ala1281=)
c.2145T>C (p.Ala715=)
c.1962T>C (p.Ala654=)
c.4194T>C (p.Ala1398=)
c.4146T>C (p.Ala1382=)
c.3915T>C (p.Ala1305=)
c.3816T>C (p.Ala1272=)
c.2997T>C (p.Ala999=)
n.4548T>C
13g.51934825A>TCA6988418ATP7Bc.*1979T>A (n.*1979T>A)
c.*3073T>A (n.*3073T>A)
c.3708T>A (p.Ala1236=)
c.4329T>A (p.Ala1443=)
c.3996T>A (p.Ala1332=)
c.4077T>A (p.Ala1359=)
n.1652T>A
c.4095T>A (p.Ala1365=)
n.4468T>A
n.1195T>A
c.3264T>A (p.Ala1088=)
c.3039T>A (p.Ala1013=)
c.4134T>A (p.Ala1378=)
c.2107T>A
c.*1430T>A (n.*1430T>A)
n.5073T>A
n.3674T>A
c.4185T>A (p.Ala1395=)
c.4233T>A (p.Ala1411=)
c.4293T>A (p.Ala1431=)
c.3843T>A (p.Ala1281=)
c.2145T>A (p.Ala715=)
c.1962T>A (p.Ala654=)
c.4194T>A (p.Ala1398=)
c.4146T>A (p.Ala1382=)
c.3915T>A (p.Ala1305=)
c.3816T>A (p.Ala1272=)
c.2997T>A (p.Ala999=)
n.4548T>A
 dbSNP ExAC gnomAD v2
13g.51934826G>ACA388019043ATP7Bc.*1978C>T (n.*1978C>T)
c.*3072C>T (n.*3072C>T)
c.3707C>T (p.Ala1236Val)
c.4328C>T (p.Ala1443Val)
c.3995C>T (p.Ala1332Val)
c.4076C>T (p.Ala1359Val)
n.1651C>T
c.4094C>T (p.Ala1365Val)
n.4467C>T
n.1194C>T
c.3263C>T (p.Ala1088Val)
c.3038C>T (p.Ala1013Val)
c.4133C>T (p.Ala1378Val)
c.2106C>T
c.*1429C>T (n.*1429C>T)
n.5072C>T
n.3673C>T
c.4184C>T (p.Ala1395Val)
c.4232C>T (p.Ala1411Val)
c.4292C>T (p.Ala1431Val)
c.3842C>T (p.Ala1281Val)
c.2144C>T (p.Ala715Val)
c.1961C>T (p.Ala654Val)
c.4193C>T (p.Ala1398Val)
c.4145C>T (p.Ala1382Val)
c.3914C>T (p.Ala1305Val)
c.3815C>T (p.Ala1272Val)
c.2996C>T (p.Ala999Val)
n.4547C>T
13g.51934826G>CCA388019044ATP7Bc.*1978C>G (n.*1978C>G)
c.*3072C>G (n.*3072C>G)
c.3707C>G (p.Ala1236Gly)
c.4328C>G (p.Ala1443Gly)
c.3995C>G (p.Ala1332Gly)
c.4076C>G (p.Ala1359Gly)
n.1651C>G
c.4094C>G (p.Ala1365Gly)
n.4467C>G
n.1194C>G
c.3263C>G (p.Ala1088Gly)
c.3038C>G (p.Ala1013Gly)
c.4133C>G (p.Ala1378Gly)
c.2106C>G
c.*1429C>G (n.*1429C>G)
n.5072C>G
n.3673C>G
c.4184C>G (p.Ala1395Gly)
c.4232C>G (p.Ala1411Gly)
c.4292C>G (p.Ala1431Gly)
c.3842C>G (p.Ala1281Gly)
c.2144C>G (p.Ala715Gly)
c.1961C>G (p.Ala654Gly)
c.4193C>G (p.Ala1398Gly)
c.4145C>G (p.Ala1382Gly)
c.3914C>G (p.Ala1305Gly)
c.3815C>G (p.Ala1272Gly)
c.2996C>G (p.Ala999Gly)
n.4547C>G
13g.51934826G>TCA388019045ATP7Bc.*1978C>A (n.*1978C>A)
c.*3072C>A (n.*3072C>A)
c.3707C>A (p.Ala1236Asp)
c.4328C>A (p.Ala1443Asp)
c.3995C>A (p.Ala1332Asp)
c.4076C>A (p.Ala1359Asp)
n.1651C>A
c.4094C>A (p.Ala1365Asp)
n.4467C>A
n.1194C>A
c.3263C>A (p.Ala1088Asp)
c.3038C>A (p.Ala1013Asp)
c.4133C>A (p.Ala1378Asp)
c.2106C>A
c.*1429C>A (n.*1429C>A)
n.5072C>A
n.3673C>A
c.4184C>A (p.Ala1395Asp)
c.4232C>A (p.Ala1411Asp)
c.4292C>A (p.Ala1431Asp)
c.3842C>A (p.Ala1281Asp)
c.2144C>A (p.Ala715Asp)
c.1961C>A (p.Ala654Asp)
c.4193C>A (p.Ala1398Asp)
c.4145C>A (p.Ala1382Asp)
c.3914C>A (p.Ala1305Asp)
c.3815C>A (p.Ala1272Asp)
c.2996C>A (p.Ala999Asp)
n.4547C>A
13g.51934828_51934829delCA912974787ATP7Bc.*1977_*1978del (n.*1977_*1978del)
c.*3071_*3072del (n.*3071_*3072del)
c.3706_3707del (p.Ala1236CysfsTer5)
c.4327_4328del (p.Ala1443CysfsTer5)
c.3994_3995del (p.Ala1332CysfsTer5)
c.4075_4076del (p.Ala1359CysfsTer5)
n.1650_1651del
c.4093_4094del (p.Ala1365CysfsTer5)
n.4466_4467del
n.1193_1194del
c.3262_3263del (p.Ala1088CysfsTer5)
c.3037_3038del (p.Ala1013CysfsTer5)
c.4132_4133del (p.Ala1378CysfsTer5)
c.2105_2106del
c.*1428_*1429del (n.*1428_*1429del)
n.5071_5072del
n.3672_3673del
c.4183_4184del (p.Ala1395CysfsTer5)
c.4231_4232del (p.Ala1411CysfsTer5)
c.4291_4292del (p.Ala1431CysfsTer5)
c.3841_3842del (p.Ala1281CysfsTer5)
c.2143_2144del (p.Ala715CysfsTer5)
c.1960_1961del (p.Ala654CysfsTer5)
c.4192_4193del (p.Ala1398CysfsTer5)
c.4144_4145del (p.Ala1382CysfsTer5)
c.3913_3914del (p.Ala1305CysfsTer5)
c.3814_3815del (p.Ala1272CysfsTer5)
c.2995_2996del (p.Ala999CysfsTer5)
n.4546_4547del
13g.51934827C>ACA388019046ATP7Bc.*1977G>T (n.*1977G>T)
c.*3071G>T (n.*3071G>T)
c.3706G>T (p.Ala1236Ser)
c.4327G>T (p.Ala1443Ser)
c.3994G>T (p.Ala1332Ser)
c.4075G>T (p.Ala1359Ser)
n.1650G>T
c.4093G>T (p.Ala1365Ser)
n.4466G>T
n.1193G>T
c.3262G>T (p.Ala1088Ser)
c.3037G>T (p.Ala1013Ser)
c.4132G>T (p.Ala1378Ser)
c.2105G>T
c.*1428G>T (n.*1428G>T)
n.5071G>T
n.3672G>T
c.4183G>T (p.Ala1395Ser)
c.4231G>T (p.Ala1411Ser)
c.4291G>T (p.Ala1431Ser)
c.3841G>T (p.Ala1281Ser)
c.2143G>T (p.Ala715Ser)
c.1960G>T (p.Ala654Ser)
c.4192G>T (p.Ala1398Ser)
c.4144G>T (p.Ala1382Ser)
c.3913G>T (p.Ala1305Ser)
c.3814G>T (p.Ala1272Ser)
c.2995G>T (p.Ala999Ser)
n.4546G>T
 ClinVar dbSNP
13g.51934827C=CA2091550230ATP7Bc.*1977G= (n.*1977G=)
c.*3071G= (n.*3071G=)
c.3706G= (p.Ala1236=)
c.4327G= (p.Ala1443=)
c.3994G= (p.Ala1332=)
c.4075G= (p.Ala1359=)
n.1650G=
c.4093G= (p.Ala1365=)
n.4466G=
n.1193G=
c.3262G= (p.Ala1088=)
c.3037G= (p.Ala1013=)
c.4132G= (p.Ala1378=)
c.2105G=
c.*1428G= (n.*1428G=)
n.5071G=
n.3672G=
c.4183G= (p.Ala1395=)
c.4231G= (p.Ala1411=)
c.4291G= (p.Ala1431=)
c.3841G= (p.Ala1281=)
c.2143G= (p.Ala715=)
c.1960G= (p.Ala654=)
c.4192G= (p.Ala1398=)
c.4144G= (p.Ala1382=)
c.3913G= (p.Ala1305=)
c.3814G= (p.Ala1272=)
c.2995G= (p.Ala999=)
n.4546G=
13g.51934827C>GCA388019047ATP7Bc.*1977G>C (n.*1977G>C)
c.*3071G>C (n.*3071G>C)
c.3706G>C (p.Ala1236Pro)
c.4327G>C (p.Ala1443Pro)
c.3994G>C (p.Ala1332Pro)
c.4075G>C (p.Ala1359Pro)
n.1650G>C
c.4093G>C (p.Ala1365Pro)
n.4466G>C
n.1193G>C
c.3262G>C (p.Ala1088Pro)
c.3037G>C (p.Ala1013Pro)
c.4132G>C (p.Ala1378Pro)
c.2105G>C
c.*1428G>C (n.*1428G>C)
n.5071G>C
n.3672G>C
c.4183G>C (p.Ala1395Pro)
c.4231G>C (p.Ala1411Pro)
c.4291G>C (p.Ala1431Pro)
c.3841G>C (p.Ala1281Pro)
c.2143G>C (p.Ala715Pro)
c.1960G>C (p.Ala654Pro)
c.4192G>C (p.Ala1398Pro)
c.4144G>C (p.Ala1382Pro)
c.3913G>C (p.Ala1305Pro)
c.3814G>C (p.Ala1272Pro)
c.2995G>C (p.Ala999Pro)
n.4546G>C
13g.51934827C>TCA6988419ATP7Bc.*1977G>A (n.*1977G>A)
c.*3071G>A (n.*3071G>A)
c.3706G>A (p.Ala1236Thr)
c.4327G>A (p.Ala1443Thr)
c.3994G>A (p.Ala1332Thr)
c.4075G>A (p.Ala1359Thr)
n.1650G>A
c.4093G>A (p.Ala1365Thr)
n.4466G>A
n.1193G>A
c.3262G>A (p.Ala1088Thr)
c.3037G>A (p.Ala1013Thr)
c.4132G>A (p.Ala1378Thr)
c.2105G>A
c.*1428G>A (n.*1428G>A)
n.5071G>A
n.3672G>A
c.4183G>A (p.Ala1395Thr)
c.4231G>A (p.Ala1411Thr)
c.4291G>A (p.Ala1431Thr)
c.3841G>A (p.Ala1281Thr)
c.2143G>A (p.Ala715Thr)
c.1960G>A (p.Ala654Thr)
c.4192G>A (p.Ala1398Thr)
c.4144G>A (p.Ala1382Thr)
c.3913G>A (p.Ala1305Thr)
c.3814G>A (p.Ala1272Thr)
c.2995G>A (p.Ala999Thr)
n.4546G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934828G>ACA484024091ATP7Bc.*1976C>T (n.*1976C>T)
c.*3070C>T (n.*3070C>T)
c.3705C>T (p.Ser1235=)
c.4326C>T (p.Ser1442=)
c.3993C>T (p.Ser1331=)
c.4074C>T (p.Ser1358=)
n.1649C>T
c.4092C>T (p.Ser1364=)
n.4465C>T
n.1192C>T
c.3261C>T (p.Ser1087=)
c.3036C>T (p.Ser1012=)
c.4131C>T (p.Ser1377=)
c.2104C>T
c.*1427C>T (n.*1427C>T)
n.5070C>T
n.3671C>T
c.4182C>T (p.Ser1394=)
c.4230C>T (p.Ser1410=)
c.4290C>T (p.Ser1430=)
c.3840C>T (p.Ser1280=)
c.2142C>T (p.Ser714=)
c.1959C>T (p.Ser653=)
c.4191C>T (p.Ser1397=)
c.4143C>T (p.Ser1381=)
c.3912C>T (p.Ser1304=)
c.3813C>T (p.Ser1271=)
c.2994C>T (p.Ser998=)
n.4545C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934828G>CCA388019051ATP7Bc.*1976C>G (n.*1976C>G)
c.*3070C>G (n.*3070C>G)
c.3705C>G (p.Ser1235Arg)
c.4326C>G (p.Ser1442Arg)
c.3993C>G (p.Ser1331Arg)
c.4074C>G (p.Ser1358Arg)
n.1649C>G
c.4092C>G (p.Ser1364Arg)
n.4465C>G
n.1192C>G
c.3261C>G (p.Ser1087Arg)
c.3036C>G (p.Ser1012Arg)
c.4131C>G (p.Ser1377Arg)
c.2104C>G
c.*1427C>G (n.*1427C>G)
n.5070C>G
n.3671C>G
c.4182C>G (p.Ser1394Arg)
c.4230C>G (p.Ser1410Arg)
c.4290C>G (p.Ser1430Arg)
c.3840C>G (p.Ser1280Arg)
c.2142C>G (p.Ser714Arg)
c.1959C>G (p.Ser653Arg)
c.4191C>G (p.Ser1397Arg)
c.4143C>G (p.Ser1381Arg)
c.3912C>G (p.Ser1304Arg)
c.3813C>G (p.Ser1271Arg)
c.2994C>G (p.Ser998Arg)
n.4545C>G
13g.51934828G=CA2091550234ATP7Bc.*1976C= (n.*1976C=)
c.*3070C= (n.*3070C=)
c.3705C= (p.Ser1235=)
c.4326C= (p.Ser1442=)
c.3993C= (p.Ser1331=)
c.4074C= (p.Ser1358=)
n.1649C=
c.4092C= (p.Ser1364=)
n.4465C=
n.1192C=
c.3261C= (p.Ser1087=)
c.3036C= (p.Ser1012=)
c.4131C= (p.Ser1377=)
c.2104C=
c.*1427C= (n.*1427C=)
n.5070C=
n.3671C=
c.4182C= (p.Ser1394=)
c.4230C= (p.Ser1410=)
c.4290C= (p.Ser1430=)
c.3840C= (p.Ser1280=)
c.2142C= (p.Ser714=)
c.1959C= (p.Ser653=)
c.4191C= (p.Ser1397=)
c.4143C= (p.Ser1381=)
c.3912C= (p.Ser1304=)
c.3813C= (p.Ser1271=)
c.2994C= (p.Ser998=)
n.4545C=
13g.51934828G>TCA388019053ATP7Bc.*1976C>A (n.*1976C>A)
c.*3070C>A (n.*3070C>A)
c.3705C>A (p.Ser1235Arg)
c.4326C>A (p.Ser1442Arg)
c.3993C>A (p.Ser1331Arg)
c.4074C>A (p.Ser1358Arg)
n.1649C>A
c.4092C>A (p.Ser1364Arg)
n.4465C>A
n.1192C>A
c.3261C>A (p.Ser1087Arg)
c.3036C>A (p.Ser1012Arg)
c.4131C>A (p.Ser1377Arg)
c.2104C>A
c.*1427C>A (n.*1427C>A)
n.5070C>A
n.3671C>A
c.4182C>A (p.Ser1394Arg)
c.4230C>A (p.Ser1410Arg)
c.4290C>A (p.Ser1430Arg)
c.3840C>A (p.Ser1280Arg)
c.2142C>A (p.Ser714Arg)
c.1959C>A (p.Ser653Arg)
c.4191C>A (p.Ser1397Arg)
c.4143C>A (p.Ser1381Arg)
c.3912C>A (p.Ser1304Arg)
c.3813C>A (p.Ser1271Arg)
c.2994C>A (p.Ser998Arg)
n.4545C>A
 gnomAD v4
13g.51934828_51934829delinsGCCA2091550233ATP7Bc.*1975_*1976delinsGC (n.*1975_*1976delinsGC)
c.*3069_*3070delinsGC (n.*3069_*3070delinsGC)
c.3704_3705delinsGC (p.Ser1235=)
c.4325_4326delinsGC (p.Ser1442=)
c.3992_3993delinsGC (p.Ser1331=)
c.4073_4074delinsGC (p.Ser1358=)
n.1648_1649delinsGC
c.4091_4092delinsGC (p.Ser1364=)
n.4464_4465delinsGC
n.1191_1192delinsGC
c.3260_3261delinsGC (p.Ser1087=)
c.3035_3036delinsGC (p.Ser1012=)
c.4130_4131delinsGC (p.Ser1377=)
c.2103_2104delinsGC
c.*1426_*1427delinsGC (n.*1426_*1427delinsGC)
n.5069_5070delinsGC
n.3670_3671delinsGC
c.4181_4182delinsGC (p.Ser1394=)
c.4229_4230delinsGC (p.Ser1410=)
c.4289_4290delinsGC (p.Ser1430=)
c.3839_3840delinsGC (p.Ser1280=)
c.2141_2142delinsGC (p.Ser714=)
c.1958_1959delinsGC (p.Ser653=)
c.4190_4191delinsGC (p.Ser1397=)
c.4142_4143delinsGC (p.Ser1381=)
c.3911_3912delinsGC (p.Ser1304=)
c.3812_3813delinsGC (p.Ser1271=)
c.2993_2994delinsGC (p.Ser998=)
n.4544_4545delinsGC
13g.51934829delCA6988420ATP7Bc.*1975del (n.*1975del)
c.*3069del (n.*3069del)
c.3704del (p.Ser1235ThrfsTer15)
c.4325del (p.Ser1442ThrfsTer15)
c.3992del (p.Ser1331ThrfsTer15)
c.4073del (p.Ser1358ThrfsTer15)
n.1648del
c.4091del (p.Ser1364ThrfsTer15)
n.4464del
n.1191del
c.3260del (p.Ser1087ThrfsTer15)
c.3035del (p.Ser1012ThrfsTer15)
c.4130del (p.Ser1377ThrfsTer15)
c.2103del
c.*1426del (n.*1426del)
n.5069del
n.3670del
c.4181del (p.Ser1394ThrfsTer15)
c.4229del (p.Ser1410ThrfsTer15)
c.4289del (p.Ser1430ThrfsTer15)
c.3839del (p.Ser1280ThrfsTer15)
c.2141del (p.Ser714ThrfsTer15)
c.1958del (p.Ser653ThrfsTer15)
c.4190del (p.Ser1397ThrfsTer15)
c.4142del (p.Ser1381ThrfsTer15)
c.3911del (p.Ser1304ThrfsTer15)
c.3812del (p.Ser1271ThrfsTer15)
c.2993del (p.Ser998ThrfsTer15)
n.4544del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934829C>ACA388019055ATP7Bc.*1975G>T (n.*1975G>T)
c.*3069G>T (n.*3069G>T)
c.3704G>T (p.Ser1235Ile)
c.4325G>T (p.Ser1442Ile)
c.3992G>T (p.Ser1331Ile)
c.4073G>T (p.Ser1358Ile)
n.1648G>T
c.4091G>T (p.Ser1364Ile)
n.4464G>T
n.1191G>T
c.3260G>T (p.Ser1087Ile)
c.3035G>T (p.Ser1012Ile)
c.4130G>T (p.Ser1377Ile)
c.2103G>T
c.*1426G>T (n.*1426G>T)
n.5069G>T
n.3670G>T
c.4181G>T (p.Ser1394Ile)
c.4229G>T (p.Ser1410Ile)
c.4289G>T (p.Ser1430Ile)
c.3839G>T (p.Ser1280Ile)
c.2141G>T (p.Ser714Ile)
c.1958G>T (p.Ser653Ile)
c.4190G>T (p.Ser1397Ile)
c.4142G>T (p.Ser1381Ile)
c.3911G>T (p.Ser1304Ile)
c.3812G>T (p.Ser1271Ile)
c.2993G>T (p.Ser998Ile)
n.4544G>T
13g.51934829C>GCA388019059ATP7Bc.*1975G>C (n.*1975G>C)
c.*3069G>C (n.*3069G>C)
c.3704G>C (p.Ser1235Thr)
c.4325G>C (p.Ser1442Thr)
c.3992G>C (p.Ser1331Thr)
c.4073G>C (p.Ser1358Thr)
n.1648G>C
c.4091G>C (p.Ser1364Thr)
n.4464G>C
n.1191G>C
c.3260G>C (p.Ser1087Thr)
c.3035G>C (p.Ser1012Thr)
c.4130G>C (p.Ser1377Thr)
c.2103G>C
c.*1426G>C (n.*1426G>C)
n.5069G>C
n.3670G>C
c.4181G>C (p.Ser1394Thr)
c.4229G>C (p.Ser1410Thr)
c.4289G>C (p.Ser1430Thr)
c.3839G>C (p.Ser1280Thr)
c.2141G>C (p.Ser714Thr)
c.1958G>C (p.Ser653Thr)
c.4190G>C (p.Ser1397Thr)
c.4142G>C (p.Ser1381Thr)
c.3911G>C (p.Ser1304Thr)
c.3812G>C (p.Ser1271Thr)
c.2993G>C (p.Ser998Thr)
n.4544G>C
13g.51934829C>TCA388019061ATP7Bc.*1975G>A (n.*1975G>A)
c.*3069G>A (n.*3069G>A)
c.3704G>A (p.Ser1235Asn)
c.4325G>A (p.Ser1442Asn)
c.3992G>A (p.Ser1331Asn)
c.4073G>A (p.Ser1358Asn)
n.1648G>A
c.4091G>A (p.Ser1364Asn)
n.4464G>A
n.1191G>A
c.3260G>A (p.Ser1087Asn)
c.3035G>A (p.Ser1012Asn)
c.4130G>A (p.Ser1377Asn)
c.2103G>A
c.*1426G>A (n.*1426G>A)
n.5069G>A
n.3670G>A
c.4181G>A (p.Ser1394Asn)
c.4229G>A (p.Ser1410Asn)
c.4289G>A (p.Ser1430Asn)
c.3839G>A (p.Ser1280Asn)
c.2141G>A (p.Ser714Asn)
c.1958G>A (p.Ser653Asn)
c.4190G>A (p.Ser1397Asn)
c.4142G>A (p.Ser1381Asn)
c.3911G>A (p.Ser1304Asn)
c.3812G>A (p.Ser1271Asn)
c.2993G>A (p.Ser998Asn)
n.4544G>A
13g.51934830T>ACA388019066ATP7Bc.*1974A>T (n.*1974A>T)
c.*3068A>T (n.*3068A>T)
c.3703A>T (p.Ser1235Cys)
c.4324A>T (p.Ser1442Cys)
c.3991A>T (p.Ser1331Cys)
c.4072A>T (p.Ser1358Cys)
n.1647A>T
c.4090A>T (p.Ser1364Cys)
n.4463A>T
n.1190A>T
c.3259A>T (p.Ser1087Cys)
c.3034A>T (p.Ser1012Cys)
c.4129A>T (p.Ser1377Cys)
c.2102A>T
c.*1425A>T (n.*1425A>T)
n.5068A>T
n.3669A>T
c.4180A>T (p.Ser1394Cys)
c.4228A>T (p.Ser1410Cys)
c.4288A>T (p.Ser1430Cys)
c.3838A>T (p.Ser1280Cys)
c.2140A>T (p.Ser714Cys)
c.1957A>T (p.Ser653Cys)
c.4189A>T (p.Ser1397Cys)
c.4141A>T (p.Ser1381Cys)
c.3910A>T (p.Ser1304Cys)
c.3811A>T (p.Ser1271Cys)
c.2992A>T (p.Ser998Cys)
n.4543A>T
13g.51934830T>CCA6988421ATP7Bc.*1974A>G (n.*1974A>G)
c.*3068A>G (n.*3068A>G)
c.3703A>G (p.Ser1235Gly)
c.4324A>G (p.Ser1442Gly)
c.3991A>G (p.Ser1331Gly)
c.4072A>G (p.Ser1358Gly)
n.1647A>G
c.4090A>G (p.Ser1364Gly)
n.4463A>G
n.1190A>G
c.3259A>G (p.Ser1087Gly)
c.3034A>G (p.Ser1012Gly)
c.4129A>G (p.Ser1377Gly)
c.2102A>G
c.*1425A>G (n.*1425A>G)
n.5068A>G
n.3669A>G
c.4180A>G (p.Ser1394Gly)
c.4228A>G (p.Ser1410Gly)
c.4288A>G (p.Ser1430Gly)
c.3838A>G (p.Ser1280Gly)
c.2140A>G (p.Ser714Gly)
c.1957A>G (p.Ser653Gly)
c.4189A>G (p.Ser1397Gly)
c.4141A>G (p.Ser1381Gly)
c.3910A>G (p.Ser1304Gly)
c.3811A>G (p.Ser1271Gly)
c.2992A>G (p.Ser998Gly)
n.4543A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934830T>GCA388019064ATP7Bc.*1974A>C (n.*1974A>C)
c.*3068A>C (n.*3068A>C)
c.3703A>C (p.Ser1235Arg)
c.4324A>C (p.Ser1442Arg)
c.3991A>C (p.Ser1331Arg)
c.4072A>C (p.Ser1358Arg)
n.1647A>C
c.4090A>C (p.Ser1364Arg)
n.4463A>C
n.1190A>C
c.3259A>C (p.Ser1087Arg)
c.3034A>C (p.Ser1012Arg)
c.4129A>C (p.Ser1377Arg)
c.2102A>C
c.*1425A>C (n.*1425A>C)
n.5068A>C
n.3669A>C
c.4180A>C (p.Ser1394Arg)
c.4228A>C (p.Ser1410Arg)
c.4288A>C (p.Ser1430Arg)
c.3838A>C (p.Ser1280Arg)
c.2140A>C (p.Ser714Arg)
c.1957A>C (p.Ser653Arg)
c.4189A>C (p.Ser1397Arg)
c.4141A>C (p.Ser1381Arg)
c.3910A>C (p.Ser1304Arg)
c.3811A>C (p.Ser1271Arg)
c.2992A>C (p.Ser998Arg)
n.4543A>C
13g.51934830T=CA2091550236ATP7Bc.*1974A= (n.*1974A=)
c.*3068A= (n.*3068A=)
c.3703A= (p.Ser1235=)
c.4324A= (p.Ser1442=)
c.3991A= (p.Ser1331=)
c.4072A= (p.Ser1358=)
n.1647A=
c.4090A= (p.Ser1364=)
n.4463A=
n.1190A=
c.3259A= (p.Ser1087=)
c.3034A= (p.Ser1012=)
c.4129A= (p.Ser1377=)
c.2102A=
c.*1425A= (n.*1425A=)
n.5068A=
n.3669A=
c.4180A= (p.Ser1394=)
c.4228A= (p.Ser1410=)
c.4288A= (p.Ser1430=)
c.3838A= (p.Ser1280=)
c.2140A= (p.Ser714=)
c.1957A= (p.Ser653=)
c.4189A= (p.Ser1397=)
c.4141A= (p.Ser1381=)
c.3910A= (p.Ser1304=)
c.3811A= (p.Ser1271=)
c.2992A= (p.Ser998=)
n.4543A=
13g.51934831G>ACA484024093ATP7Bc.*1973C>T (n.*1973C>T)
c.*3067C>T (n.*3067C>T)
c.3702C>T (p.His1234=)
c.4323C>T (p.His1441=)
c.3990C>T (p.His1330=)
c.4071C>T (p.His1357=)
n.1646C>T
c.4089C>T (p.His1363=)
n.4462C>T
n.1189C>T
c.3258C>T (p.His1086=)
c.3033C>T (p.His1011=)
c.4128C>T (p.His1376=)
c.2101C>T
c.*1424C>T (n.*1424C>T)
n.5067C>T
n.3668C>T
c.4179C>T (p.His1393=)
c.4227C>T (p.His1409=)
c.4287C>T (p.His1429=)
c.3837C>T (p.His1279=)
c.2139C>T (p.His713=)
c.1956C>T (p.His652=)
c.4188C>T (p.His1396=)
c.4140C>T (p.His1380=)
c.3909C>T (p.His1303=)
c.3810C>T (p.His1270=)
c.2991C>T (p.His997=)
n.4542C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934831G>CCA388019068ATP7Bc.*1973C>G (n.*1973C>G)
c.*3067C>G (n.*3067C>G)
c.3702C>G (p.His1234Gln)
c.4323C>G (p.His1441Gln)
c.3990C>G (p.His1330Gln)
c.4071C>G (p.His1357Gln)
n.1646C>G
c.4089C>G (p.His1363Gln)
n.4462C>G
n.1189C>G
c.3258C>G (p.His1086Gln)
c.3033C>G (p.His1011Gln)
c.4128C>G (p.His1376Gln)
c.2101C>G
c.*1424C>G (n.*1424C>G)
n.5067C>G
n.3668C>G
c.4179C>G (p.His1393Gln)
c.4227C>G (p.His1409Gln)
c.4287C>G (p.His1429Gln)
c.3837C>G (p.His1279Gln)
c.2139C>G (p.His713Gln)
c.1956C>G (p.His652Gln)
c.4188C>G (p.His1396Gln)
c.4140C>G (p.His1380Gln)
c.3909C>G (p.His1303Gln)
c.3810C>G (p.His1270Gln)
c.2991C>G (p.His997Gln)
n.4542C>G
 ClinVar dbSNP gnomAD v4
13g.51934831G=CA2091550237ATP7Bc.*1973C= (n.*1973C=)
c.*3067C= (n.*3067C=)
c.3702C= (p.His1234=)
c.4323C= (p.His1441=)
c.3990C= (p.His1330=)
c.4071C= (p.His1357=)
n.1646C=
c.4089C= (p.His1363=)
n.4462C=
n.1189C=
c.3258C= (p.His1086=)
c.3033C= (p.His1011=)
c.4128C= (p.His1376=)
c.2101C=
c.*1424C= (n.*1424C=)
n.5067C=
n.3668C=
c.4179C= (p.His1393=)
c.4227C= (p.His1409=)
c.4287C= (p.His1429=)
c.3837C= (p.His1279=)
c.2139C= (p.His713=)
c.1956C= (p.His652=)
c.4188C= (p.His1396=)
c.4140C= (p.His1380=)
c.3909C= (p.His1303=)
c.3810C= (p.His1270=)
c.2991C= (p.His997=)
n.4542C=
13g.51934831G>TCA388019070ATP7Bc.*1973C>A (n.*1973C>A)
c.*3067C>A (n.*3067C>A)
c.3702C>A (p.His1234Gln)
c.4323C>A (p.His1441Gln)
c.3990C>A (p.His1330Gln)
c.4071C>A (p.His1357Gln)
n.1646C>A
c.4089C>A (p.His1363Gln)
n.4462C>A
n.1189C>A
c.3258C>A (p.His1086Gln)
c.3033C>A (p.His1011Gln)
c.4128C>A (p.His1376Gln)
c.2101C>A
c.*1424C>A (n.*1424C>A)
n.5067C>A
n.3668C>A
c.4179C>A (p.His1393Gln)
c.4227C>A (p.His1409Gln)
c.4287C>A (p.His1429Gln)
c.3837C>A (p.His1279Gln)
c.2139C>A (p.His713Gln)
c.1956C>A (p.His652Gln)
c.4188C>A (p.His1396Gln)
c.4140C>A (p.His1380Gln)
c.3909C>A (p.His1303Gln)
c.3810C>A (p.His1270Gln)
c.2991C>A (p.His997Gln)
n.4542C>A
13g.51934832T>ACA388019071ATP7Bc.*1972A>T (n.*1972A>T)
c.*3066A>T (n.*3066A>T)
c.3701A>T (p.His1234Leu)
c.4322A>T (p.His1441Leu)
c.3989A>T (p.His1330Leu)
c.4070A>T (p.His1357Leu)
n.1645A>T
c.4088A>T (p.His1363Leu)
n.4461A>T
n.1188A>T
c.3257A>T (p.His1086Leu)
c.3032A>T (p.His1011Leu)
c.4127A>T (p.His1376Leu)
c.2100A>T
c.*1423A>T (n.*1423A>T)
n.5066A>T
n.3667A>T
c.4178A>T (p.His1393Leu)
c.4226A>T (p.His1409Leu)
c.4286A>T (p.His1429Leu)
c.3836A>T (p.His1279Leu)
c.2138A>T (p.His713Leu)
c.1955A>T (p.His652Leu)
c.4187A>T (p.His1396Leu)
c.4139A>T (p.His1380Leu)
c.3908A>T (p.His1303Leu)
c.3809A>T (p.His1270Leu)
c.2990A>T (p.His997Leu)
n.4541A>T
13g.51934832T>CCA388019073ATP7Bc.*1972A>G (n.*1972A>G)
c.*3066A>G (n.*3066A>G)
c.3701A>G (p.His1234Arg)
c.4322A>G (p.His1441Arg)
c.3989A>G (p.His1330Arg)
c.4070A>G (p.His1357Arg)
n.1645A>G
c.4088A>G (p.His1363Arg)
n.4461A>G
n.1188A>G
c.3257A>G (p.His1086Arg)
c.3032A>G (p.His1011Arg)
c.4127A>G (p.His1376Arg)
c.2100A>G
c.*1423A>G (n.*1423A>G)
n.5066A>G
n.3667A>G
c.4178A>G (p.His1393Arg)
c.4226A>G (p.His1409Arg)
c.4286A>G (p.His1429Arg)
c.3836A>G (p.His1279Arg)
c.2138A>G (p.His713Arg)
c.1955A>G (p.His652Arg)
c.4187A>G (p.His1396Arg)
c.4139A>G (p.His1380Arg)
c.3908A>G (p.His1303Arg)
c.3809A>G (p.His1270Arg)
c.2990A>G (p.His997Arg)
n.4541A>G
 dbSNP
13g.51934832T>GCA388019076ATP7Bc.*1972A>C (n.*1972A>C)
c.*3066A>C (n.*3066A>C)
c.3701A>C (p.His1234Pro)
c.4322A>C (p.His1441Pro)
c.3989A>C (p.His1330Pro)
c.4070A>C (p.His1357Pro)
n.1645A>C
c.4088A>C (p.His1363Pro)
n.4461A>C
n.1188A>C
c.3257A>C (p.His1086Pro)
c.3032A>C (p.His1011Pro)
c.4127A>C (p.His1376Pro)
c.2100A>C
c.*1423A>C (n.*1423A>C)
n.5066A>C
n.3667A>C
c.4178A>C (p.His1393Pro)
c.4226A>C (p.His1409Pro)
c.4286A>C (p.His1429Pro)
c.3836A>C (p.His1279Pro)
c.2138A>C (p.His713Pro)
c.1955A>C (p.His652Pro)
c.4187A>C (p.His1396Pro)
c.4139A>C (p.His1380Pro)
c.3908A>C (p.His1303Pro)
c.3809A>C (p.His1270Pro)
c.2990A>C (p.His997Pro)
n.4541A>C
 gnomAD v4
13g.51934832T=CA2091550239ATP7Bc.*1972A= (n.*1972A=)
c.*3066A= (n.*3066A=)
c.3701A= (p.His1234=)
c.4322A= (p.His1441=)
c.3989A= (p.His1330=)
c.4070A= (p.His1357=)
n.1645A=
c.4088A= (p.His1363=)
n.4461A=
n.1188A=
c.3257A= (p.His1086=)
c.3032A= (p.His1011=)
c.4127A= (p.His1376=)
c.2100A=
c.*1423A= (n.*1423A=)
n.5066A=
n.3667A=
c.4178A= (p.His1393=)
c.4226A= (p.His1409=)
c.4286A= (p.His1429=)
c.3836A= (p.His1279=)
c.2138A= (p.His713=)
c.1955A= (p.His652=)
c.4187A= (p.His1396=)
c.4139A= (p.His1380=)
c.3908A= (p.His1303=)
c.3809A= (p.His1270=)
c.2990A= (p.His997=)
n.4541A=
13g.51934833G>ACA6988422ATP7Bc.*1971C>T (n.*1971C>T)
c.*3065C>T (n.*3065C>T)
c.3700C>T (p.His1234Tyr)
c.4321C>T (p.His1441Tyr)
c.3988C>T (p.His1330Tyr)
c.4069C>T (p.His1357Tyr)
n.1644C>T
c.4087C>T (p.His1363Tyr)
n.4460C>T
n.1187C>T
c.3256C>T (p.His1086Tyr)
c.3031C>T (p.His1011Tyr)
c.4126C>T (p.His1376Tyr)
c.2099C>T
c.*1422C>T (n.*1422C>T)
n.5065C>T
n.3666C>T
c.4177C>T (p.His1393Tyr)
c.4225C>T (p.His1409Tyr)
c.4285C>T (p.His1429Tyr)
c.3835C>T (p.His1279Tyr)
c.2137C>T (p.His713Tyr)
c.1954C>T (p.His652Tyr)
c.4186C>T (p.His1396Tyr)
c.4138C>T (p.His1380Tyr)
c.3907C>T (p.His1303Tyr)
c.3808C>T (p.His1270Tyr)
c.2989C>T (p.His997Tyr)
n.4540C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934833G>CCA388019077ATP7Bc.*1971C>G (n.*1971C>G)
c.*3065C>G (n.*3065C>G)
c.3700C>G (p.His1234Asp)
c.4321C>G (p.His1441Asp)
c.3988C>G (p.His1330Asp)
c.4069C>G (p.His1357Asp)
n.1644C>G
c.4087C>G (p.His1363Asp)
n.4460C>G
n.1187C>G
c.3256C>G (p.His1086Asp)
c.3031C>G (p.His1011Asp)
c.4126C>G (p.His1376Asp)
c.2099C>G
c.*1422C>G (n.*1422C>G)
n.5065C>G
n.3666C>G
c.4177C>G (p.His1393Asp)
c.4225C>G (p.His1409Asp)
c.4285C>G (p.His1429Asp)
c.3835C>G (p.His1279Asp)
c.2137C>G (p.His713Asp)
c.1954C>G (p.His652Asp)
c.4186C>G (p.His1396Asp)
c.4138C>G (p.His1380Asp)
c.3907C>G (p.His1303Asp)
c.3808C>G (p.His1270Asp)
c.2989C>G (p.His997Asp)
n.4540C>G
13g.51934833G=CA2091550240ATP7Bc.*1971C= (n.*1971C=)
c.*3065C= (n.*3065C=)
c.3700C= (p.His1234=)
c.4321C= (p.His1441=)
c.3988C= (p.His1330=)
c.4069C= (p.His1357=)
n.1644C=
c.4087C= (p.His1363=)
n.4460C=
n.1187C=
c.3256C= (p.His1086=)
c.3031C= (p.His1011=)
c.4126C= (p.His1376=)
c.2099C=
c.*1422C= (n.*1422C=)
n.5065C=
n.3666C=
c.4177C= (p.His1393=)
c.4225C= (p.His1409=)
c.4285C= (p.His1429=)
c.3835C= (p.His1279=)
c.2137C= (p.His713=)
c.1954C= (p.His652=)
c.4186C= (p.His1396=)
c.4138C= (p.His1380=)
c.3907C= (p.His1303=)
c.3808C= (p.His1270=)
c.2989C= (p.His997=)
n.4540C=
13g.51934833G>TCA388019078ATP7Bc.*1971C>A (n.*1971C>A)
c.*3065C>A (n.*3065C>A)
c.3700C>A (p.His1234Asn)
c.4321C>A (p.His1441Asn)
c.3988C>A (p.His1330Asn)
c.4069C>A (p.His1357Asn)
n.1644C>A
c.4087C>A (p.His1363Asn)
n.4460C>A
n.1187C>A
c.3256C>A (p.His1086Asn)
c.3031C>A (p.His1011Asn)
c.4126C>A (p.His1376Asn)
c.2099C>A
c.*1422C>A (n.*1422C>A)
n.5065C>A
n.3666C>A
c.4177C>A (p.His1393Asn)
c.4225C>A (p.His1409Asn)
c.4285C>A (p.His1429Asn)
c.3835C>A (p.His1279Asn)
c.2137C>A (p.His713Asn)
c.1954C>A (p.His652Asn)
c.4186C>A (p.His1396Asn)
c.4138C>A (p.His1380Asn)
c.3907C>A (p.His1303Asn)
c.3808C>A (p.His1270Asn)
c.2989C>A (p.His997Asn)
n.4540C>A
13g.51934834C>ACA484024097ATP7Bc.*1970G>T (n.*1970G>T)
c.*3064G>T (n.*3064G>T)
c.3699G>T (p.Arg1233=)
c.4320G>T (p.Arg1440=)
c.3987G>T (p.Arg1329=)
c.4068G>T (p.Arg1356=)
n.1643G>T
c.4086G>T (p.Arg1362=)
n.4459G>T
n.1186G>T
c.3255G>T (p.Arg1085=)
c.3030G>T (p.Arg1010=)
c.4125G>T (p.Arg1375=)
c.2098G>T
c.*1421G>T (n.*1421G>T)
n.5064G>T
n.3665G>T
c.4176G>T (p.Arg1392=)
c.4224G>T (p.Arg1408=)
c.4284G>T (p.Arg1428=)
c.3834G>T (p.Arg1278=)
c.2136G>T (p.Arg712=)
c.1953G>T (p.Arg651=)
c.4185G>T (p.Arg1395=)
c.4137G>T (p.Arg1379=)
c.3906G>T (p.Arg1302=)
c.3807G>T (p.Arg1269=)
c.2988G>T (p.Arg996=)
n.4539G>T
13g.51934834C=CA2091550242ATP7Bc.*1970G= (n.*1970G=)
c.*3064G= (n.*3064G=)
c.3699G= (p.Arg1233=)
c.4320G= (p.Arg1440=)
c.3987G= (p.Arg1329=)
c.4068G= (p.Arg1356=)
n.1643G=
c.4086G= (p.Arg1362=)
n.4459G=
n.1186G=
c.3255G= (p.Arg1085=)
c.3030G= (p.Arg1010=)
c.4125G= (p.Arg1375=)
c.2098G=
c.*1421G= (n.*1421G=)
n.5064G=
n.3665G=
c.4176G= (p.Arg1392=)
c.4224G= (p.Arg1408=)
c.4284G= (p.Arg1428=)
c.3834G= (p.Arg1278=)
c.2136G= (p.Arg712=)
c.1953G= (p.Arg651=)
c.4185G= (p.Arg1395=)
c.4137G= (p.Arg1379=)
c.3906G= (p.Arg1302=)
c.3807G= (p.Arg1269=)
c.2988G= (p.Arg996=)
n.4539G=
13g.51934834C>GCA484024100ATP7Bc.*1970G>C (n.*1970G>C)
c.*3064G>C (n.*3064G>C)
c.3699G>C (p.Arg1233=)
c.4320G>C (p.Arg1440=)
c.3987G>C (p.Arg1329=)
c.4068G>C (p.Arg1356=)
n.1643G>C
c.4086G>C (p.Arg1362=)
n.4459G>C
n.1186G>C
c.3255G>C (p.Arg1085=)
c.3030G>C (p.Arg1010=)
c.4125G>C (p.Arg1375=)
c.2098G>C
c.*1421G>C (n.*1421G>C)
n.5064G>C
n.3665G>C
c.4176G>C (p.Arg1392=)
c.4224G>C (p.Arg1408=)
c.4284G>C (p.Arg1428=)
c.3834G>C (p.Arg1278=)
c.2136G>C (p.Arg712=)
c.1953G>C (p.Arg651=)
c.4185G>C (p.Arg1395=)
c.4137G>C (p.Arg1379=)
c.3906G>C (p.Arg1302=)
c.3807G>C (p.Arg1269=)
c.2988G>C (p.Arg996=)
n.4539G>C
13g.51934834C>TCA484024099ATP7Bc.*1970G>A (n.*1970G>A)
c.*3064G>A (n.*3064G>A)
c.3699G>A (p.Arg1233=)
c.4320G>A (p.Arg1440=)
c.3987G>A (p.Arg1329=)
c.4068G>A (p.Arg1356=)
n.1643G>A
c.4086G>A (p.Arg1362=)
n.4459G>A
n.1186G>A
c.3255G>A (p.Arg1085=)
c.3030G>A (p.Arg1010=)
c.4125G>A (p.Arg1375=)
c.2098G>A
c.*1421G>A (n.*1421G>A)
n.5064G>A
n.3665G>A
c.4176G>A (p.Arg1392=)
c.4224G>A (p.Arg1408=)
c.4284G>A (p.Arg1428=)
c.3834G>A (p.Arg1278=)
c.2136G>A (p.Arg712=)
c.1953G>A (p.Arg651=)
c.4185G>A (p.Arg1395=)
c.4137G>A (p.Arg1379=)
c.3906G>A (p.Arg1302=)
c.3807G>A (p.Arg1269=)
c.2988G>A (p.Arg996=)
n.4539G>A
 dbSNP gnomAD v4
13g.51934835C>ACA6988424ATP7Bc.*1969G>T (n.*1969G>T)
c.*3063G>T (n.*3063G>T)
c.3698G>T (p.Arg1233Leu)
c.4319G>T (p.Arg1440Leu)
c.3986G>T (p.Arg1329Leu)
c.4067G>T (p.Arg1356Leu)
n.1642G>T
c.4085G>T (p.Arg1362Leu)
n.4458G>T
n.1185G>T
c.3254G>T (p.Arg1085Leu)
c.3029G>T (p.Arg1010Leu)
c.4124G>T (p.Arg1375Leu)
c.2097G>T
c.*1420G>T (n.*1420G>T)
n.5063G>T
n.3664G>T
c.4175G>T (p.Arg1392Leu)
c.4223G>T (p.Arg1408Leu)
c.4283G>T (p.Arg1428Leu)
c.3833G>T (p.Arg1278Leu)
c.2135G>T (p.Arg712Leu)
c.1952G>T (p.Arg651Leu)
c.4184G>T (p.Arg1395Leu)
c.4136G>T (p.Arg1379Leu)
c.3905G>T (p.Arg1302Leu)
c.3806G>T (p.Arg1269Leu)
c.2987G>T (p.Arg996Leu)
n.4538G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934835C=CA2091550244ATP7Bc.*1969G= (n.*1969G=)
c.*3063G= (n.*3063G=)
c.3698G= (p.Arg1233=)
c.4319G= (p.Arg1440=)
c.3986G= (p.Arg1329=)
c.4067G= (p.Arg1356=)
n.1642G=
c.4085G= (p.Arg1362=)
n.4458G=
n.1185G=
c.3254G= (p.Arg1085=)
c.3029G= (p.Arg1010=)
c.4124G= (p.Arg1375=)
c.2097G=
c.*1420G= (n.*1420G=)
n.5063G=
n.3664G=
c.4175G= (p.Arg1392=)
c.4223G= (p.Arg1408=)
c.4283G= (p.Arg1428=)
c.3833G= (p.Arg1278=)
c.2135G= (p.Arg712=)
c.1952G= (p.Arg651=)
c.4184G= (p.Arg1395=)
c.4136G= (p.Arg1379=)
c.3905G= (p.Arg1302=)
c.3806G= (p.Arg1269=)
c.2987G= (p.Arg996=)
n.4538G=
13g.51934835C>GCA388019080ATP7Bc.*1969G>C (n.*1969G>C)
c.*3063G>C (n.*3063G>C)
c.3698G>C (p.Arg1233Pro)
c.4319G>C (p.Arg1440Pro)
c.3986G>C (p.Arg1329Pro)
c.4067G>C (p.Arg1356Pro)
n.1642G>C
c.4085G>C (p.Arg1362Pro)
n.4458G>C
n.1185G>C
c.3254G>C (p.Arg1085Pro)
c.3029G>C (p.Arg1010Pro)
c.4124G>C (p.Arg1375Pro)
c.2097G>C
c.*1420G>C (n.*1420G>C)
n.5063G>C
n.3664G>C
c.4175G>C (p.Arg1392Pro)
c.4223G>C (p.Arg1408Pro)
c.4283G>C (p.Arg1428Pro)
c.3833G>C (p.Arg1278Pro)
c.2135G>C (p.Arg712Pro)
c.1952G>C (p.Arg651Pro)
c.4184G>C (p.Arg1395Pro)
c.4136G>C (p.Arg1379Pro)
c.3905G>C (p.Arg1302Pro)
c.3806G>C (p.Arg1269Pro)
c.2987G>C (p.Arg996Pro)
n.4538G>C
13g.51934835C>TCA6988423ATP7Bc.*1969G>A (n.*1969G>A)
c.*3063G>A (n.*3063G>A)
c.3698G>A (p.Arg1233Gln)
c.4319G>A (p.Arg1440Gln)
c.3986G>A (p.Arg1329Gln)
c.4067G>A (p.Arg1356Gln)
n.1642G>A
c.4085G>A (p.Arg1362Gln)
n.4458G>A
n.1185G>A
c.3254G>A (p.Arg1085Gln)
c.3029G>A (p.Arg1010Gln)
c.4124G>A (p.Arg1375Gln)
c.2097G>A
c.*1420G>A (n.*1420G>A)
n.5063G>A
n.3664G>A
c.4175G>A (p.Arg1392Gln)
c.4223G>A (p.Arg1408Gln)
c.4283G>A (p.Arg1428Gln)
c.3833G>A (p.Arg1278Gln)
c.2135G>A (p.Arg712Gln)
c.1952G>A (p.Arg651Gln)
c.4184G>A (p.Arg1395Gln)
c.4136G>A (p.Arg1379Gln)
c.3905G>A (p.Arg1302Gln)
c.3806G>A (p.Arg1269Gln)
c.2987G>A (p.Arg996Gln)
n.4538G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934836G>ACA6988425ATP7Bc.*1968C>T (n.*1968C>T)
c.*3062C>T (n.*3062C>T)
c.3697C>T (p.Arg1233Trp)
c.4318C>T (p.Arg1440Trp)
c.3985C>T (p.Arg1329Trp)
c.4066C>T (p.Arg1356Trp)
n.1641C>T
c.4084C>T (p.Arg1362Trp)
n.4457C>T
n.1184C>T
c.3253C>T (p.Arg1085Trp)
c.3028C>T (p.Arg1010Trp)
c.4123C>T (p.Arg1375Trp)
c.2096C>T
c.*1419C>T (n.*1419C>T)
n.5062C>T
n.3663C>T
c.4174C>T (p.Arg1392Trp)
c.4222C>T (p.Arg1408Trp)
c.4282C>T (p.Arg1428Trp)
c.3832C>T (p.Arg1278Trp)
c.2134C>T (p.Arg712Trp)
c.1951C>T (p.Arg651Trp)
c.4183C>T (p.Arg1395Trp)
c.4135C>T (p.Arg1379Trp)
c.3904C>T (p.Arg1302Trp)
c.3805C>T (p.Arg1269Trp)
c.2986C>T (p.Arg996Trp)
n.4537C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51934836G>CCA388019084ATP7Bc.*1968C>G (n.*1968C>G)
c.*3062C>G (n.*3062C>G)
c.3697C>G (p.Arg1233Gly)
c.4318C>G (p.Arg1440Gly)
c.3985C>G (p.Arg1329Gly)
c.4066C>G (p.Arg1356Gly)
n.1641C>G
c.4084C>G (p.Arg1362Gly)
n.4457C>G
n.1184C>G
c.3253C>G (p.Arg1085Gly)
c.3028C>G (p.Arg1010Gly)
c.4123C>G (p.Arg1375Gly)
c.2096C>G
c.*1419C>G (n.*1419C>G)
n.5062C>G
n.3663C>G
c.4174C>G (p.Arg1392Gly)
c.4222C>G (p.Arg1408Gly)
c.4282C>G (p.Arg1428Gly)
c.3832C>G (p.Arg1278Gly)
c.2134C>G (p.Arg712Gly)
c.1951C>G (p.Arg651Gly)
c.4183C>G (p.Arg1395Gly)
c.4135C>G (p.Arg1379Gly)
c.3904C>G (p.Arg1302Gly)
c.3805C>G (p.Arg1269Gly)
c.2986C>G (p.Arg996Gly)
n.4537C>G
 gnomAD v4
13g.51934836G=CA2091550245ATP7Bc.*1968C= (n.*1968C=)
c.*3062C= (n.*3062C=)
c.3697C= (p.Arg1233=)
c.4318C= (p.Arg1440=)
c.3985C= (p.Arg1329=)
c.4066C= (p.Arg1356=)
n.1641C=
c.4084C= (p.Arg1362=)
n.4457C=
n.1184C=
c.3253C= (p.Arg1085=)
c.3028C= (p.Arg1010=)
c.4123C= (p.Arg1375=)
c.2096C=
c.*1419C= (n.*1419C=)
n.5062C=
n.3663C=
c.4174C= (p.Arg1392=)
c.4222C= (p.Arg1408=)
c.4282C= (p.Arg1428=)
c.3832C= (p.Arg1278=)
c.2134C= (p.Arg712=)
c.1951C= (p.Arg651=)
c.4183C= (p.Arg1395=)
c.4135C= (p.Arg1379=)
c.3904C= (p.Arg1302=)
c.3805C= (p.Arg1269=)
c.2986C= (p.Arg996=)
n.4537C=
13g.51934836G>TCA250071497ATP7Bc.*1968C>A (n.*1968C>A)
c.*3062C>A (n.*3062C>A)
c.3697C>A (p.Arg1233=)
c.4318C>A (p.Arg1440=)
c.3985C>A (p.Arg1329=)
c.4066C>A (p.Arg1356=)
n.1641C>A
c.4084C>A (p.Arg1362=)
n.4457C>A
n.1184C>A
c.3253C>A (p.Arg1085=)
c.3028C>A (p.Arg1010=)
c.4123C>A (p.Arg1375=)
c.2096C>A
c.*1419C>A (n.*1419C>A)
n.5062C>A
n.3663C>A
c.4174C>A (p.Arg1392=)
c.4222C>A (p.Arg1408=)
c.4282C>A (p.Arg1428=)
c.3832C>A (p.Arg1278=)
c.2134C>A (p.Arg712=)
c.1951C>A (p.Arg651=)
c.4183C>A (p.Arg1395=)
c.4135C>A (p.Arg1379=)
c.3904C>A (p.Arg1302=)
c.3805C>A (p.Arg1269=)
c.2986C>A (p.Arg996=)
n.4537C>A
 ClinVar dbSNP
13g.51934837A>CCA484024105ATP7Bc.*1967T>G (n.*1967T>G)
c.*3061T>G (n.*3061T>G)
c.3696T>G (p.Ser1232=)
c.4317T>G (p.Ser1439=)
c.3984T>G (p.Ser1328=)
c.4065T>G (p.Ser1355=)
n.1640T>G
c.4083T>G (p.Ser1361=)
n.4456T>G
n.1183T>G
c.3252T>G (p.Ser1084=)
c.3027T>G (p.Ser1009=)
c.4122T>G (p.Ser1374=)
c.2095T>G
c.*1418T>G (n.*1418T>G)
n.5061T>G
n.3662T>G
c.4173T>G (p.Ser1391=)
c.4221T>G (p.Ser1407=)
c.4281T>G (p.Ser1427=)
c.3831T>G (p.Ser1277=)
c.2133T>G (p.Ser711=)
c.1950T>G (p.Ser650=)
c.4182T>G (p.Ser1394=)
c.4134T>G (p.Ser1378=)
c.3903T>G (p.Ser1301=)
c.3804T>G (p.Ser1268=)
c.2985T>G (p.Ser995=)
n.4536T>G
 gnomAD v4
13g.51934837A>GCA484024103ATP7Bc.*1967T>C (n.*1967T>C)
c.*3061T>C (n.*3061T>C)
c.3696T>C (p.Ser1232=)
c.4317T>C (p.Ser1439=)
c.3984T>C (p.Ser1328=)
c.4065T>C (p.Ser1355=)
n.1640T>C
c.4083T>C (p.Ser1361=)
n.4456T>C
n.1183T>C
c.3252T>C (p.Ser1084=)
c.3027T>C (p.Ser1009=)
c.4122T>C (p.Ser1374=)
c.2095T>C
c.*1418T>C (n.*1418T>C)
n.5061T>C
n.3662T>C
c.4173T>C (p.Ser1391=)
c.4221T>C (p.Ser1407=)
c.4281T>C (p.Ser1427=)
c.3831T>C (p.Ser1277=)
c.2133T>C (p.Ser711=)
c.1950T>C (p.Ser650=)
c.4182T>C (p.Ser1394=)
c.4134T>C (p.Ser1378=)
c.3903T>C (p.Ser1301=)
c.3804T>C (p.Ser1268=)
c.2985T>C (p.Ser995=)
n.4536T>C
13g.51934837A>TCA484024101ATP7Bc.*1967T>A (n.*1967T>A)
c.*3061T>A (n.*3061T>A)
c.3696T>A (p.Ser1232=)
c.4317T>A (p.Ser1439=)
c.3984T>A (p.Ser1328=)
c.4065T>A (p.Ser1355=)
n.1640T>A
c.4083T>A (p.Ser1361=)
n.4456T>A
n.1183T>A
c.3252T>A (p.Ser1084=)
c.3027T>A (p.Ser1009=)
c.4122T>A (p.Ser1374=)
c.2095T>A
c.*1418T>A (n.*1418T>A)
n.5061T>A
n.3662T>A
c.4173T>A (p.Ser1391=)
c.4221T>A (p.Ser1407=)
c.4281T>A (p.Ser1427=)
c.3831T>A (p.Ser1277=)
c.2133T>A (p.Ser711=)
c.1950T>A (p.Ser650=)
c.4182T>A (p.Ser1394=)
c.4134T>A (p.Ser1378=)
c.3903T>A (p.Ser1301=)
c.3804T>A (p.Ser1268=)
c.2985T>A (p.Ser995=)
n.4536T>A
13g.51934837_51934848delinsAGATGGCTTGTCCA2091550248ATP7Bc.*1956_*1967delinsGACAAGCCATCT (n.*1956_*1967delinsGACAAGCCATCT)
c.*3050_*3061delinsGACAAGCCATCT (n.*3050_*3061delinsGACAAGCCATCT)
c.3685_3696delinsGACAAGCCATCT (p.Asp1229=)
c.4306_4317delinsGACAAGCCATCT (p.Asp1436=)
c.3973_3984delinsGACAAGCCATCT (p.Asp1325=)
c.4054_4065delinsGACAAGCCATCT (p.Asp1352=)
n.1629_1640delinsGACAAGCCATCT
c.4072_4083delinsGACAAGCCATCT (p.Asp1358=)
n.4445_4456delinsGACAAGCCATCT
n.1172_1183delinsGACAAGCCATCT
c.3241_3252delinsGACAAGCCATCT (p.Asp1081=)
c.3016_3027delinsGACAAGCCATCT (p.Asp1006=)
c.4111_4122delinsGACAAGCCATCT (p.Asp1371=)
c.2084_2095delinsGACAAGCCATCT
c.*1407_*1418delinsGACAAGCCATCT (n.*1407_*1418delinsGACAAGCCATCT)
n.5050_5061delinsGACAAGCCATCT
n.3651_3662delinsGACAAGCCATCT
c.4162_4173delinsGACAAGCCATCT (p.Asp1388=)
c.4210_4221delinsGACAAGCCATCT (p.Asp1404=)
c.4270_4281delinsGACAAGCCATCT (p.Asp1424=)
c.3820_3831delinsGACAAGCCATCT (p.Asp1274=)
c.2122_2133delinsGACAAGCCATCT (p.Asp708=)
c.1939_1950delinsGACAAGCCATCT (p.Asp647=)
c.4171_4182delinsGACAAGCCATCT (p.Asp1391=)
c.4123_4134delinsGACAAGCCATCT (p.Asp1375=)
c.3892_3903delinsGACAAGCCATCT (p.Asp1298=)
c.3793_3804delinsGACAAGCCATCT (p.Asp1265=)
c.2974_2985delinsGACAAGCCATCT (p.Asp992=)
n.4525_4536delinsGACAAGCCATCT
13g.51934838G>ACA388019094ATP7Bc.*1966C>T (n.*1966C>T)
c.*3060C>T (n.*3060C>T)
c.3695C>T (p.Ser1232Phe)
c.4316C>T (p.Ser1439Phe)
c.3983C>T (p.Ser1328Phe)
c.4064C>T (p.Ser1355Phe)
n.1639C>T
c.4082C>T (p.Ser1361Phe)
n.4455C>T
n.1182C>T
c.3251C>T (p.Ser1084Phe)
c.3026C>T (p.Ser1009Phe)
c.4121C>T (p.Ser1374Phe)
c.2094C>T
c.*1417C>T (n.*1417C>T)
n.5060C>T
n.3661C>T
c.4172C>T (p.Ser1391Phe)
c.4220C>T (p.Ser1407Phe)
c.4280C>T (p.Ser1427Phe)
c.3830C>T (p.Ser1277Phe)
c.2132C>T (p.Ser711Phe)
c.1949C>T (p.Ser650Phe)
c.4181C>T (p.Ser1394Phe)
c.4133C>T (p.Ser1378Phe)
c.3902C>T (p.Ser1301Phe)
c.3803C>T (p.Ser1268Phe)
c.2984C>T (p.Ser995Phe)
n.4535C>T
 COSMIC
13g.51934838G>CCA6988426ATP7Bc.*1966C>G (n.*1966C>G)
c.*3060C>G (n.*3060C>G)
c.3695C>G (p.Ser1232Cys)
c.4316C>G (p.Ser1439Cys)
c.3983C>G (p.Ser1328Cys)
c.4064C>G (p.Ser1355Cys)
n.1639C>G
c.4082C>G (p.Ser1361Cys)
n.4455C>G
n.1182C>G
c.3251C>G (p.Ser1084Cys)
c.3026C>G (p.Ser1009Cys)
c.4121C>G (p.Ser1374Cys)
c.2094C>G
c.*1417C>G (n.*1417C>G)
n.5060C>G
n.3661C>G
c.4172C>G (p.Ser1391Cys)
c.4220C>G (p.Ser1407Cys)
c.4280C>G (p.Ser1427Cys)
c.3830C>G (p.Ser1277Cys)
c.2132C>G (p.Ser711Cys)
c.1949C>G (p.Ser650Cys)
c.4181C>G (p.Ser1394Cys)
c.4133C>G (p.Ser1378Cys)
c.3902C>G (p.Ser1301Cys)
c.3803C>G (p.Ser1268Cys)
c.2984C>G (p.Ser995Cys)
n.4535C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934838G=CA2091550250ATP7Bc.*1966C= (n.*1966C=)
c.*3060C= (n.*3060C=)
c.3695C= (p.Ser1232=)
c.4316C= (p.Ser1439=)
c.3983C= (p.Ser1328=)
c.4064C= (p.Ser1355=)
n.1639C=
c.4082C= (p.Ser1361=)
n.4455C=
n.1182C=
c.3251C= (p.Ser1084=)
c.3026C= (p.Ser1009=)
c.4121C= (p.Ser1374=)
c.2094C=
c.*1417C= (n.*1417C=)
n.5060C=
n.3661C=
c.4172C= (p.Ser1391=)
c.4220C= (p.Ser1407=)
c.4280C= (p.Ser1427=)
c.3830C= (p.Ser1277=)
c.2132C= (p.Ser711=)
c.1949C= (p.Ser650=)
c.4181C= (p.Ser1394=)
c.4133C= (p.Ser1378=)
c.3902C= (p.Ser1301=)
c.3803C= (p.Ser1268=)
c.2984C= (p.Ser995=)
n.4535C=
13g.51934838G>TCA388019087ATP7Bc.*1966C>A (n.*1966C>A)
c.*3060C>A (n.*3060C>A)
c.3695C>A (p.Ser1232Tyr)
c.4316C>A (p.Ser1439Tyr)
c.3983C>A (p.Ser1328Tyr)
c.4064C>A (p.Ser1355Tyr)
n.1639C>A
c.4082C>A (p.Ser1361Tyr)
n.4455C>A
n.1182C>A
c.3251C>A (p.Ser1084Tyr)
c.3026C>A (p.Ser1009Tyr)
c.4121C>A (p.Ser1374Tyr)
c.2094C>A
c.*1417C>A (n.*1417C>A)
n.5060C>A
n.3661C>A
c.4172C>A (p.Ser1391Tyr)
c.4220C>A (p.Ser1407Tyr)
c.4280C>A (p.Ser1427Tyr)
c.3830C>A (p.Ser1277Tyr)
c.2132C>A (p.Ser711Tyr)
c.1949C>A (p.Ser650Tyr)
c.4181C>A (p.Ser1394Tyr)
c.4133C>A (p.Ser1378Tyr)
c.3902C>A (p.Ser1301Tyr)
c.3803C>A (p.Ser1268Tyr)
c.2984C>A (p.Ser995Tyr)
n.4535C>A
13g.51934839_51934849delCA2091550249ATP7Bc.*1956_*1966del (n.*1956_*1966del)
c.*3050_*3060del (n.*3050_*3060del)
c.3685_3695del (p.Asp1229SerfsTer9)
c.4306_4316del (p.Asp1436SerfsTer9)
c.3973_3983del (p.Asp1325SerfsTer9)
c.4054_4064del (p.Asp1352SerfsTer9)
n.1629_1639del
c.4072_4082del (p.Asp1358SerfsTer9)
n.4445_4455del
n.1172_1182del
c.3241_3251del (p.Asp1081SerfsTer9)
c.3016_3026del (p.Asp1006SerfsTer9)
c.4111_4121del (p.Asp1371SerfsTer9)
c.2084_2094del
c.*1407_*1417del (n.*1407_*1417del)
n.5050_5060del
n.3651_3661del
c.4162_4172del (p.Asp1388SerfsTer9)
c.4210_4220del (p.Asp1404SerfsTer9)
c.4270_4280del (p.Asp1424SerfsTer9)
c.3820_3830del (p.Asp1274SerfsTer9)
c.2122_2132del (p.Asp708SerfsTer9)
c.1939_1949del (p.Asp647SerfsTer9)
c.4171_4181del (p.Asp1391SerfsTer9)
c.4123_4133del (p.Asp1375SerfsTer9)
c.3892_3902del (p.Asp1298SerfsTer9)
c.3793_3803del (p.Asp1265SerfsTer9)
c.2974_2984del (p.Asp992SerfsTer9)
n.4525_4535del
 dbSNP
13g.51934839A=CA2091550251ATP7Bc.*1965T= (n.*1965T=)
c.*3059T= (n.*3059T=)
c.3694T= (p.Ser1232=)
c.4315T= (p.Ser1439=)
c.3982T= (p.Ser1328=)
c.4063T= (p.Ser1355=)
n.1638T=
c.4081T= (p.Ser1361=)
n.4454T=
n.1181T=
c.3250T= (p.Ser1084=)
c.3025T= (p.Ser1009=)
c.4120T= (p.Ser1374=)
c.2093T=
c.*1416T= (n.*1416T=)
n.5059T=
n.3660T=
c.4171T= (p.Ser1391=)
c.4219T= (p.Ser1407=)
c.4279T= (p.Ser1427=)
c.3829T= (p.Ser1277=)
c.2131T= (p.Ser711=)
c.1948T= (p.Ser650=)
c.4180T= (p.Ser1394=)
c.4132T= (p.Ser1378=)
c.3901T= (p.Ser1301=)
c.3802T= (p.Ser1268=)
c.2983T= (p.Ser995=)
n.4534T=
13g.51934839A>CCA388019097ATP7Bc.*1965T>G (n.*1965T>G)
c.*3059T>G (n.*3059T>G)
c.3694T>G (p.Ser1232Ala)
c.4315T>G (p.Ser1439Ala)
c.3982T>G (p.Ser1328Ala)
c.4063T>G (p.Ser1355Ala)
n.1638T>G
c.4081T>G (p.Ser1361Ala)
n.4454T>G
n.1181T>G
c.3250T>G (p.Ser1084Ala)
c.3025T>G (p.Ser1009Ala)
c.4120T>G (p.Ser1374Ala)
c.2093T>G
c.*1416T>G (n.*1416T>G)
n.5059T>G
n.3660T>G
c.4171T>G (p.Ser1391Ala)
c.4219T>G (p.Ser1407Ala)
c.4279T>G (p.Ser1427Ala)
c.3829T>G (p.Ser1277Ala)
c.2131T>G (p.Ser711Ala)
c.1948T>G (p.Ser650Ala)
c.4180T>G (p.Ser1394Ala)
c.4132T>G (p.Ser1378Ala)
c.3901T>G (p.Ser1301Ala)
c.3802T>G (p.Ser1268Ala)
c.2983T>G (p.Ser995Ala)
n.4534T>G
 dbSNP gnomAD v2 gnomAD v4
13g.51934839A>GCA388019099ATP7Bc.*1965T>C (n.*1965T>C)
c.*3059T>C (n.*3059T>C)
c.3694T>C (p.Ser1232Pro)
c.4315T>C (p.Ser1439Pro)
c.3982T>C (p.Ser1328Pro)
c.4063T>C (p.Ser1355Pro)
n.1638T>C
c.4081T>C (p.Ser1361Pro)
n.4454T>C
n.1181T>C
c.3250T>C (p.Ser1084Pro)
c.3025T>C (p.Ser1009Pro)
c.4120T>C (p.Ser1374Pro)
c.2093T>C
c.*1416T>C (n.*1416T>C)
n.5059T>C
n.3660T>C
c.4171T>C (p.Ser1391Pro)
c.4219T>C (p.Ser1407Pro)
c.4279T>C (p.Ser1427Pro)
c.3829T>C (p.Ser1277Pro)
c.2131T>C (p.Ser711Pro)
c.1948T>C (p.Ser650Pro)
c.4180T>C (p.Ser1394Pro)
c.4132T>C (p.Ser1378Pro)
c.3901T>C (p.Ser1301Pro)
c.3802T>C (p.Ser1268Pro)
c.2983T>C (p.Ser995Pro)
n.4534T>C
 ClinVar dbSNP
13g.51934839A>TCA388019098ATP7Bc.*1965T>A (n.*1965T>A)
c.*3059T>A (n.*3059T>A)
c.3694T>A (p.Ser1232Thr)
c.4315T>A (p.Ser1439Thr)
c.3982T>A (p.Ser1328Thr)
c.4063T>A (p.Ser1355Thr)
n.1638T>A
c.4081T>A (p.Ser1361Thr)
n.4454T>A
n.1181T>A
c.3250T>A (p.Ser1084Thr)
c.3025T>A (p.Ser1009Thr)
c.4120T>A (p.Ser1374Thr)
c.2093T>A
c.*1416T>A (n.*1416T>A)
n.5059T>A
n.3660T>A
c.4171T>A (p.Ser1391Thr)
c.4219T>A (p.Ser1407Thr)
c.4279T>A (p.Ser1427Thr)
c.3829T>A (p.Ser1277Thr)
c.2131T>A (p.Ser711Thr)
c.1948T>A (p.Ser650Thr)
c.4180T>A (p.Ser1394Thr)
c.4132T>A (p.Ser1378Thr)
c.3901T>A (p.Ser1301Thr)
c.3802T>A (p.Ser1268Thr)
c.2983T>A (p.Ser995Thr)
n.4534T>A
13g.51934840T>ACA484024108ATP7Bc.*1964A>T (n.*1964A>T)
c.*3058A>T (n.*3058A>T)
c.3693A>T (p.Pro1231=)
c.4314A>T (p.Pro1438=)
c.3981A>T (p.Pro1327=)
c.4062A>T (p.Pro1354=)
n.1637A>T
c.4080A>T (p.Pro1360=)
n.4453A>T
n.1180A>T
c.3249A>T (p.Pro1083=)
c.3024A>T (p.Pro1008=)
c.4119A>T (p.Pro1373=)
c.2092A>T
c.*1415A>T (n.*1415A>T)
n.5058A>T
n.3659A>T
c.4170A>T (p.Pro1390=)
c.4218A>T (p.Pro1406=)
c.4278A>T (p.Pro1426=)
c.3828A>T (p.Pro1276=)
c.2130A>T (p.Pro710=)
c.1947A>T (p.Pro649=)
c.4179A>T (p.Pro1393=)
c.4131A>T (p.Pro1377=)
c.3900A>T (p.Pro1300=)
c.3801A>T (p.Pro1267=)
c.2982A>T (p.Pro994=)
n.4533A>T
13g.51934840T>CCA250071504ATP7Bc.*1964A>G (n.*1964A>G)
c.*3058A>G (n.*3058A>G)
c.3693A>G (p.Pro1231=)
c.4314A>G (p.Pro1438=)
c.3981A>G (p.Pro1327=)
c.4062A>G (p.Pro1354=)
n.1637A>G
c.4080A>G (p.Pro1360=)
n.4453A>G
n.1180A>G
c.3249A>G (p.Pro1083=)
c.3024A>G (p.Pro1008=)
c.4119A>G (p.Pro1373=)
c.2092A>G
c.*1415A>G (n.*1415A>G)
n.5058A>G
n.3659A>G
c.4170A>G (p.Pro1390=)
c.4218A>G (p.Pro1406=)
c.4278A>G (p.Pro1426=)
c.3828A>G (p.Pro1276=)
c.2130A>G (p.Pro710=)
c.1947A>G (p.Pro649=)
c.4179A>G (p.Pro1393=)
c.4131A>G (p.Pro1377=)
c.3900A>G (p.Pro1300=)
c.3801A>G (p.Pro1267=)
c.2982A>G (p.Pro994=)
n.4533A>G
 ClinVar dbSNP gnomAD v4
13g.51934840T>GCA484024109ATP7Bc.*1964A>C (n.*1964A>C)
c.*3058A>C (n.*3058A>C)
c.3693A>C (p.Pro1231=)
c.4314A>C (p.Pro1438=)
c.3981A>C (p.Pro1327=)
c.4062A>C (p.Pro1354=)
n.1637A>C
c.4080A>C (p.Pro1360=)
n.4453A>C
n.1180A>C
c.3249A>C (p.Pro1083=)
c.3024A>C (p.Pro1008=)
c.4119A>C (p.Pro1373=)
c.2092A>C
c.*1415A>C (n.*1415A>C)
n.5058A>C
n.3659A>C
c.4170A>C (p.Pro1390=)
c.4218A>C (p.Pro1406=)
c.4278A>C (p.Pro1426=)
c.3828A>C (p.Pro1276=)
c.2130A>C (p.Pro710=)
c.1947A>C (p.Pro649=)
c.4179A>C (p.Pro1393=)
c.4131A>C (p.Pro1377=)
c.3900A>C (p.Pro1300=)
c.3801A>C (p.Pro1267=)
c.2982A>C (p.Pro994=)
n.4533A>C
13g.51934840T=CA2091550254ATP7Bc.*1964A= (n.*1964A=)
c.*3058A= (n.*3058A=)
c.3693A= (p.Pro1231=)
c.4314A= (p.Pro1438=)
c.3981A= (p.Pro1327=)
c.4062A= (p.Pro1354=)
n.1637A=
c.4080A= (p.Pro1360=)
n.4453A=
n.1180A=
c.3249A= (p.Pro1083=)
c.3024A= (p.Pro1008=)
c.4119A= (p.Pro1373=)
c.2092A=
c.*1415A= (n.*1415A=)
n.5058A=
n.3659A=
c.4170A= (p.Pro1390=)
c.4218A= (p.Pro1406=)
c.4278A= (p.Pro1426=)
c.3828A= (p.Pro1276=)
c.2130A= (p.Pro710=)
c.1947A= (p.Pro649=)
c.4179A= (p.Pro1393=)
c.4131A= (p.Pro1377=)
c.3900A= (p.Pro1300=)
c.3801A= (p.Pro1267=)
c.2982A= (p.Pro994=)
n.4533A=
13g.51934841G>ACA388019100ATP7Bc.*1963C>T (n.*1963C>T)
c.*3057C>T (n.*3057C>T)
c.3692C>T (p.Pro1231Leu)
c.4313C>T (p.Pro1438Leu)
c.3980C>T (p.Pro1327Leu)
c.4061C>T (p.Pro1354Leu)
n.1636C>T
c.4079C>T (p.Pro1360Leu)
n.4452C>T
n.1179C>T
c.3248C>T (p.Pro1083Leu)
c.3023C>T (p.Pro1008Leu)
c.4118C>T (p.Pro1373Leu)
c.2091C>T
c.*1414C>T (n.*1414C>T)
n.5057C>T
n.3658C>T
c.4169C>T (p.Pro1390Leu)
c.4217C>T (p.Pro1406Leu)
c.4277C>T (p.Pro1426Leu)
c.3827C>T (p.Pro1276Leu)
c.2129C>T (p.Pro710Leu)
c.1946C>T (p.Pro649Leu)
c.4178C>T (p.Pro1393Leu)
c.4130C>T (p.Pro1377Leu)
c.3899C>T (p.Pro1300Leu)
c.3800C>T (p.Pro1267Leu)
c.2981C>T (p.Pro994Leu)
n.4532C>T
13g.51934841G>CCA388019101ATP7Bc.*1963C>G (n.*1963C>G)
c.*3057C>G (n.*3057C>G)
c.3692C>G (p.Pro1231Arg)
c.4313C>G (p.Pro1438Arg)
c.3980C>G (p.Pro1327Arg)
c.4061C>G (p.Pro1354Arg)
n.1636C>G
c.4079C>G (p.Pro1360Arg)
n.4452C>G
n.1179C>G
c.3248C>G (p.Pro1083Arg)
c.3023C>G (p.Pro1008Arg)
c.4118C>G (p.Pro1373Arg)
c.2091C>G
c.*1414C>G (n.*1414C>G)
n.5057C>G
n.3658C>G
c.4169C>G (p.Pro1390Arg)
c.4217C>G (p.Pro1406Arg)
c.4277C>G (p.Pro1426Arg)
c.3827C>G (p.Pro1276Arg)
c.2129C>G (p.Pro710Arg)
c.1946C>G (p.Pro649Arg)
c.4178C>G (p.Pro1393Arg)
c.4130C>G (p.Pro1377Arg)
c.3899C>G (p.Pro1300Arg)
c.3800C>G (p.Pro1267Arg)
c.2981C>G (p.Pro994Arg)
n.4532C>G
13g.51934841G=CA2091550255ATP7Bc.*1963C= (n.*1963C=)
c.*3057C= (n.*3057C=)
c.3692C= (p.Pro1231=)
c.4313C= (p.Pro1438=)
c.3980C= (p.Pro1327=)
c.4061C= (p.Pro1354=)
n.1636C=
c.4079C= (p.Pro1360=)
n.4452C=
n.1179C=
c.3248C= (p.Pro1083=)
c.3023C= (p.Pro1008=)
c.4118C= (p.Pro1373=)
c.2091C=
c.*1414C= (n.*1414C=)
n.5057C=
n.3658C=
c.4169C= (p.Pro1390=)
c.4217C= (p.Pro1406=)
c.4277C= (p.Pro1426=)
c.3827C= (p.Pro1276=)
c.2129C= (p.Pro710=)
c.1946C= (p.Pro649=)
c.4178C= (p.Pro1393=)
c.4130C= (p.Pro1377=)
c.3899C= (p.Pro1300=)
c.3800C= (p.Pro1267=)
c.2981C= (p.Pro994=)
n.4532C=
13g.51934841G>TCA388019103ATP7Bc.*1963C>A (n.*1963C>A)
c.*3057C>A (n.*3057C>A)
c.3692C>A (p.Pro1231Gln)
c.4313C>A (p.Pro1438Gln)
c.3980C>A (p.Pro1327Gln)
c.4061C>A (p.Pro1354Gln)
n.1636C>A
c.4079C>A (p.Pro1360Gln)
n.4452C>A
n.1179C>A
c.3248C>A (p.Pro1083Gln)
c.3023C>A (p.Pro1008Gln)
c.4118C>A (p.Pro1373Gln)
c.2091C>A
c.*1414C>A (n.*1414C>A)
n.5057C>A
n.3658C>A
c.4169C>A (p.Pro1390Gln)
c.4217C>A (p.Pro1406Gln)
c.4277C>A (p.Pro1426Gln)
c.3827C>A (p.Pro1276Gln)
c.2129C>A (p.Pro710Gln)
c.1946C>A (p.Pro649Gln)
c.4178C>A (p.Pro1393Gln)
c.4130C>A (p.Pro1377Gln)
c.3899C>A (p.Pro1300Gln)
c.3800C>A (p.Pro1267Gln)
c.2981C>A (p.Pro994Gln)
n.4532C>A
13g.51934842G>ACA388019105ATP7Bc.*1962C>T (n.*1962C>T)
c.*3056C>T (n.*3056C>T)
c.3691C>T (p.Pro1231Ser)
c.4312C>T (p.Pro1438Ser)
c.3979C>T (p.Pro1327Ser)
c.4060C>T (p.Pro1354Ser)
n.1635C>T
c.4078C>T (p.Pro1360Ser)
n.4451C>T
n.1178C>T
c.3247C>T (p.Pro1083Ser)
c.3022C>T (p.Pro1008Ser)
c.4117C>T (p.Pro1373Ser)
c.2090C>T
c.*1413C>T (n.*1413C>T)
n.5056C>T
n.3657C>T
c.4168C>T (p.Pro1390Ser)
c.4216C>T (p.Pro1406Ser)
c.4276C>T (p.Pro1426Ser)
c.3826C>T (p.Pro1276Ser)
c.2128C>T (p.Pro710Ser)
c.1945C>T (p.Pro649Ser)
c.4177C>T (p.Pro1393Ser)
c.4129C>T (p.Pro1377Ser)
c.3898C>T (p.Pro1300Ser)
c.3799C>T (p.Pro1267Ser)
c.2980C>T (p.Pro994Ser)
n.4531C>T
13g.51934842G>CCA388019107ATP7Bc.*1962C>G (n.*1962C>G)
c.*3056C>G (n.*3056C>G)
c.3691C>G (p.Pro1231Ala)
c.4312C>G (p.Pro1438Ala)
c.3979C>G (p.Pro1327Ala)
c.4060C>G (p.Pro1354Ala)
n.1635C>G
c.4078C>G (p.Pro1360Ala)
n.4451C>G
n.1178C>G
c.3247C>G (p.Pro1083Ala)
c.3022C>G (p.Pro1008Ala)
c.4117C>G (p.Pro1373Ala)
c.2090C>G
c.*1413C>G (n.*1413C>G)
n.5056C>G
n.3657C>G
c.4168C>G (p.Pro1390Ala)
c.4216C>G (p.Pro1406Ala)
c.4276C>G (p.Pro1426Ala)
c.3826C>G (p.Pro1276Ala)
c.2128C>G (p.Pro710Ala)
c.1945C>G (p.Pro649Ala)
c.4177C>G (p.Pro1393Ala)
c.4129C>G (p.Pro1377Ala)
c.3898C>G (p.Pro1300Ala)
c.3799C>G (p.Pro1267Ala)
c.2980C>G (p.Pro994Ala)
n.4531C>G
13g.51934842G>TCA388019108ATP7Bc.*1962C>A (n.*1962C>A)
c.*3056C>A (n.*3056C>A)
c.3691C>A (p.Pro1231Thr)
c.4312C>A (p.Pro1438Thr)
c.3979C>A (p.Pro1327Thr)
c.4060C>A (p.Pro1354Thr)
n.1635C>A
c.4078C>A (p.Pro1360Thr)
n.4451C>A
n.1178C>A
c.3247C>A (p.Pro1083Thr)
c.3022C>A (p.Pro1008Thr)
c.4117C>A (p.Pro1373Thr)
c.2090C>A
c.*1413C>A (n.*1413C>A)
n.5056C>A
n.3657C>A
c.4168C>A (p.Pro1390Thr)
c.4216C>A (p.Pro1406Thr)
c.4276C>A (p.Pro1426Thr)
c.3826C>A (p.Pro1276Thr)
c.2128C>A (p.Pro710Thr)
c.1945C>A (p.Pro649Thr)
c.4177C>A (p.Pro1393Thr)
c.4129C>A (p.Pro1377Thr)
c.3898C>A (p.Pro1300Thr)
c.3799C>A (p.Pro1267Thr)
c.2980C>A (p.Pro994Thr)
n.4531C>A
13g.51934842_51934843dupCA610425733ATP7Bc.*1961_*1962dup (n.*1961_*1962dup)
c.*3055_*3056dup (n.*3055_*3056dup)
c.3690_3691dup (p.Pro1231ArgfsTer20)
c.4311_4312dup (p.Pro1438ArgfsTer20)
c.3978_3979dup (p.Pro1327ArgfsTer20)
c.4059_4060dup (p.Pro1354ArgfsTer20)
n.1634_1635dup
c.4077_4078dup (p.Pro1360ArgfsTer20)
n.4450_4451dup
n.1177_1178dup
c.3246_3247dup (p.Pro1083ArgfsTer20)
c.3021_3022dup (p.Pro1008ArgfsTer20)
c.4116_4117dup (p.Pro1373ArgfsTer20)
c.2089_2090dup
c.*1412_*1413dup (n.*1412_*1413dup)
n.5055_5056dup
n.3656_3657dup
c.4167_4168dup (p.Pro1390ArgfsTer20)
c.4215_4216dup (p.Pro1406ArgfsTer20)
c.4275_4276dup (p.Pro1426ArgfsTer20)
c.3825_3826dup (p.Pro1276ArgfsTer20)
c.2127_2128dup (p.Pro710ArgfsTer20)
c.1944_1945dup (p.Pro649ArgfsTer20)
c.4176_4177dup (p.Pro1393ArgfsTer20)
c.4128_4129dup (p.Pro1377ArgfsTer20)
c.3897_3898dup (p.Pro1300ArgfsTer20)
c.3798_3799dup (p.Pro1267ArgfsTer20)
c.2979_2980dup (p.Pro994ArgfsTer20)
n.4530_4531dup
 dbSNP gnomAD v2
13g.51934843C>ACA388019109ATP7Bc.*1961G>T (n.*1961G>T)
c.*3055G>T (n.*3055G>T)
c.3690G>T (p.Lys1230Asn)
c.4311G>T (p.Lys1437Asn)
c.3978G>T (p.Lys1326Asn)
c.4059G>T (p.Lys1353Asn)
n.1634G>T
c.4077G>T (p.Lys1359Asn)
n.4450G>T
n.1177G>T
c.3246G>T (p.Lys1082Asn)
c.3021G>T (p.Lys1007Asn)
c.4116G>T (p.Lys1372Asn)
c.2089G>T
c.*1412G>T (n.*1412G>T)
n.5055G>T
n.3656G>T
c.4167G>T (p.Lys1389Asn)
c.4215G>T (p.Lys1405Asn)
c.4275G>T (p.Lys1425Asn)
c.3825G>T (p.Lys1275Asn)
c.2127G>T (p.Lys709Asn)
c.1944G>T (p.Lys648Asn)
c.4176G>T (p.Lys1392Asn)
c.4128G>T (p.Lys1376Asn)
c.3897G>T (p.Lys1299Asn)
c.3798G>T (p.Lys1266Asn)
c.2979G>T (p.Lys993Asn)
n.4530G>T
13g.51934843C=CA2091550258ATP7Bc.*1961G= (n.*1961G=)
c.*3055G= (n.*3055G=)
c.3690G= (p.Lys1230=)
c.4311G= (p.Lys1437=)
c.3978G= (p.Lys1326=)
c.4059G= (p.Lys1353=)
n.1634G=
c.4077G= (p.Lys1359=)
n.4450G=
n.1177G=
c.3246G= (p.Lys1082=)
c.3021G= (p.Lys1007=)
c.4116G= (p.Lys1372=)
c.2089G=
c.*1412G= (n.*1412G=)
n.5055G=
n.3656G=
c.4167G= (p.Lys1389=)
c.4215G= (p.Lys1405=)
c.4275G= (p.Lys1425=)
c.3825G= (p.Lys1275=)
c.2127G= (p.Lys709=)
c.1944G= (p.Lys648=)
c.4176G= (p.Lys1392=)
c.4128G= (p.Lys1376=)
c.3897G= (p.Lys1299=)
c.3798G= (p.Lys1266=)
c.2979G= (p.Lys993=)
n.4530G=
13g.51934843C>GCA388019112ATP7Bc.*1961G>C (n.*1961G>C)
c.*3055G>C (n.*3055G>C)
c.3690G>C (p.Lys1230Asn)
c.4311G>C (p.Lys1437Asn)
c.3978G>C (p.Lys1326Asn)
c.4059G>C (p.Lys1353Asn)
n.1634G>C
c.4077G>C (p.Lys1359Asn)
n.4450G>C
n.1177G>C
c.3246G>C (p.Lys1082Asn)
c.3021G>C (p.Lys1007Asn)
c.4116G>C (p.Lys1372Asn)
c.2089G>C
c.*1412G>C (n.*1412G>C)
n.5055G>C
n.3656G>C
c.4167G>C (p.Lys1389Asn)
c.4215G>C (p.Lys1405Asn)
c.4275G>C (p.Lys1425Asn)
c.3825G>C (p.Lys1275Asn)
c.2127G>C (p.Lys709Asn)
c.1944G>C (p.Lys648Asn)
c.4176G>C (p.Lys1392Asn)
c.4128G>C (p.Lys1376Asn)
c.3897G>C (p.Lys1299Asn)
c.3798G>C (p.Lys1266Asn)
c.2979G>C (p.Lys993Asn)
n.4530G>C
13g.51934843C>TCA171330ATP7Bc.*1961G>A (n.*1961G>A)
c.*3055G>A (n.*3055G>A)
c.3690G>A (p.Lys1230=)
c.4311G>A (p.Lys1437=)
c.3978G>A (p.Lys1326=)
c.4059G>A (p.Lys1353=)
n.1634G>A
c.4077G>A (p.Lys1359=)
n.4450G>A
n.1177G>A
c.3246G>A (p.Lys1082=)
c.3021G>A (p.Lys1007=)
c.4116G>A (p.Lys1372=)
c.2089G>A
c.*1412G>A (n.*1412G>A)
n.5055G>A
n.3656G>A
c.4167G>A (p.Lys1389=)
c.4215G>A (p.Lys1405=)
c.4275G>A (p.Lys1425=)
c.3825G>A (p.Lys1275=)
c.2127G>A (p.Lys709=)
c.1944G>A (p.Lys648=)
c.4176G>A (p.Lys1392=)
c.4128G>A (p.Lys1376=)
c.3897G>A (p.Lys1299=)
c.3798G>A (p.Lys1266=)
c.2979G>A (p.Lys993=)
n.4530G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934844T>ACA388019115ATP7Bc.*1960A>T (n.*1960A>T)
c.*3054A>T (n.*3054A>T)
c.3689A>T (p.Lys1230Met)
c.4310A>T (p.Lys1437Met)
c.3977A>T (p.Lys1326Met)
c.4058A>T (p.Lys1353Met)
n.1633A>T
c.4076A>T (p.Lys1359Met)
n.4449A>T
n.1176A>T
c.3245A>T (p.Lys1082Met)
c.3020A>T (p.Lys1007Met)
c.4115A>T (p.Lys1372Met)
c.2088A>T
c.*1411A>T (n.*1411A>T)
n.5054A>T
n.3655A>T
c.4166A>T (p.Lys1389Met)
c.4214A>T (p.Lys1405Met)
c.4274A>T (p.Lys1425Met)
c.3824A>T (p.Lys1275Met)
c.2126A>T (p.Lys709Met)
c.1943A>T (p.Lys648Met)
c.4175A>T (p.Lys1392Met)
c.4127A>T (p.Lys1376Met)
c.3896A>T (p.Lys1299Met)
c.3797A>T (p.Lys1266Met)
c.2978A>T (p.Lys993Met)
n.4529A>T
13g.51934844T>CCA388019116ATP7Bc.*1960A>G (n.*1960A>G)
c.*3054A>G (n.*3054A>G)
c.3689A>G (p.Lys1230Arg)
c.4310A>G (p.Lys1437Arg)
c.3977A>G (p.Lys1326Arg)
c.4058A>G (p.Lys1353Arg)
n.1633A>G
c.4076A>G (p.Lys1359Arg)
n.4449A>G
n.1176A>G
c.3245A>G (p.Lys1082Arg)
c.3020A>G (p.Lys1007Arg)
c.4115A>G (p.Lys1372Arg)
c.2088A>G
c.*1411A>G (n.*1411A>G)
n.5054A>G
n.3655A>G
c.4166A>G (p.Lys1389Arg)
c.4214A>G (p.Lys1405Arg)
c.4274A>G (p.Lys1425Arg)
c.3824A>G (p.Lys1275Arg)
c.2126A>G (p.Lys709Arg)
c.1943A>G (p.Lys648Arg)
c.4175A>G (p.Lys1392Arg)
c.4127A>G (p.Lys1376Arg)
c.3896A>G (p.Lys1299Arg)
c.3797A>G (p.Lys1266Arg)
c.2978A>G (p.Lys993Arg)
n.4529A>G
13g.51934844T>GCA388019118ATP7Bc.*1960A>C (n.*1960A>C)
c.*3054A>C (n.*3054A>C)
c.3689A>C (p.Lys1230Thr)
c.4310A>C (p.Lys1437Thr)
c.3977A>C (p.Lys1326Thr)
c.4058A>C (p.Lys1353Thr)
n.1633A>C
c.4076A>C (p.Lys1359Thr)
n.4449A>C
n.1176A>C
c.3245A>C (p.Lys1082Thr)
c.3020A>C (p.Lys1007Thr)
c.4115A>C (p.Lys1372Thr)
c.2088A>C
c.*1411A>C (n.*1411A>C)
n.5054A>C
n.3655A>C
c.4166A>C (p.Lys1389Thr)
c.4214A>C (p.Lys1405Thr)
c.4274A>C (p.Lys1425Thr)
c.3824A>C (p.Lys1275Thr)
c.2126A>C (p.Lys709Thr)
c.1943A>C (p.Lys648Thr)
c.4175A>C (p.Lys1392Thr)
c.4127A>C (p.Lys1376Thr)
c.3896A>C (p.Lys1299Thr)
c.3797A>C (p.Lys1266Thr)
c.2978A>C (p.Lys993Thr)
n.4529A>C
13g.51934845dupCA2695218702ATP7Bc.*1960dup (n.*1960dup)
c.*3054dup (n.*3054dup)
c.3689dup (p.Pro1231AlafsTer11)
c.4310dup (p.Pro1438AlafsTer11)
c.3977dup (p.Pro1327AlafsTer11)
c.4058dup (p.Pro1354AlafsTer11)
n.1633dup
c.4076dup (p.Pro1360AlafsTer11)
n.4449dup
n.1176dup
c.3245dup (p.Pro1083AlafsTer11)
c.3020dup (p.Pro1008AlafsTer11)
c.4115dup (p.Pro1373AlafsTer11)
c.2088dup
c.*1411dup (n.*1411dup)
n.5054dup
n.3655dup
c.4166dup (p.Pro1390AlafsTer11)
c.4214dup (p.Pro1406AlafsTer11)
c.4274dup (p.Pro1426AlafsTer11)
c.3824dup (p.Pro1276AlafsTer11)
c.2126dup (p.Pro710AlafsTer11)
c.1943dup (p.Pro649AlafsTer11)
c.4175dup (p.Pro1393AlafsTer11)
c.4127dup (p.Pro1377AlafsTer11)
c.3896dup (p.Pro1300AlafsTer11)
c.3797dup (p.Pro1267AlafsTer11)
c.2978dup (p.Pro994AlafsTer11)
n.4529dup
13g.51934845T>ACA6988427ATP7Bc.*1959A>T (n.*1959A>T)
c.*3053A>T (n.*3053A>T)
c.3688A>T (p.Lys1230Ter)
c.4309A>T (p.Lys1437Ter)
c.3976A>T (p.Lys1326Ter)
c.4057A>T (p.Lys1353Ter)
n.1632A>T
c.4075A>T (p.Lys1359Ter)
n.4448A>T
n.1175A>T
c.3244A>T (p.Lys1082Ter)
c.3019A>T (p.Lys1007Ter)
c.4114A>T (p.Lys1372Ter)
c.2087A>T
c.*1410A>T (n.*1410A>T)
n.5053A>T
n.3654A>T
c.4165A>T (p.Lys1389Ter)
c.4213A>T (p.Lys1405Ter)
c.4273A>T (p.Lys1425Ter)
c.3823A>T (p.Lys1275Ter)
c.2125A>T (p.Lys709Ter)
c.1942A>T (p.Lys648Ter)
c.4174A>T (p.Lys1392Ter)
c.4126A>T (p.Lys1376Ter)
c.3895A>T (p.Lys1299Ter)
c.3796A>T (p.Lys1266Ter)
c.2977A>T (p.Lys993Ter)
n.4528A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934845T>CCA388019123ATP7Bc.*1959A>G (n.*1959A>G)
c.*3053A>G (n.*3053A>G)
c.3688A>G (p.Lys1230Glu)
c.4309A>G (p.Lys1437Glu)
c.3976A>G (p.Lys1326Glu)
c.4057A>G (p.Lys1353Glu)
n.1632A>G
c.4075A>G (p.Lys1359Glu)
n.4448A>G
n.1175A>G
c.3244A>G (p.Lys1082Glu)
c.3019A>G (p.Lys1007Glu)
c.4114A>G (p.Lys1372Glu)
c.2087A>G
c.*1410A>G (n.*1410A>G)
n.5053A>G
n.3654A>G
c.4165A>G (p.Lys1389Glu)
c.4213A>G (p.Lys1405Glu)
c.4273A>G (p.Lys1425Glu)
c.3823A>G (p.Lys1275Glu)
c.2125A>G (p.Lys709Glu)
c.1942A>G (p.Lys648Glu)
c.4174A>G (p.Lys1392Glu)
c.4126A>G (p.Lys1376Glu)
c.3895A>G (p.Lys1299Glu)
c.3796A>G (p.Lys1266Glu)
c.2977A>G (p.Lys993Glu)
n.4528A>G
 dbSNP
13g.51934845T>GCA388019121ATP7Bc.*1959A>C (n.*1959A>C)
c.*3053A>C (n.*3053A>C)
c.3688A>C (p.Lys1230Gln)
c.4309A>C (p.Lys1437Gln)
c.3976A>C (p.Lys1326Gln)
c.4057A>C (p.Lys1353Gln)
n.1632A>C
c.4075A>C (p.Lys1359Gln)
n.4448A>C
n.1175A>C
c.3244A>C (p.Lys1082Gln)
c.3019A>C (p.Lys1007Gln)
c.4114A>C (p.Lys1372Gln)
c.2087A>C
c.*1410A>C (n.*1410A>C)
n.5053A>C
n.3654A>C
c.4165A>C (p.Lys1389Gln)
c.4213A>C (p.Lys1405Gln)
c.4273A>C (p.Lys1425Gln)
c.3823A>C (p.Lys1275Gln)
c.2125A>C (p.Lys709Gln)
c.1942A>C (p.Lys648Gln)
c.4174A>C (p.Lys1392Gln)
c.4126A>C (p.Lys1376Gln)
c.3895A>C (p.Lys1299Gln)
c.3796A>C (p.Lys1266Gln)
c.2977A>C (p.Lys993Gln)
n.4528A>C
13g.51934845T=CA2091550261ATP7Bc.*1959A= (n.*1959A=)
c.*3053A= (n.*3053A=)
c.3688A= (p.Lys1230=)
c.4309A= (p.Lys1437=)
c.3976A= (p.Lys1326=)
c.4057A= (p.Lys1353=)
n.1632A=
c.4075A= (p.Lys1359=)
n.4448A=
n.1175A=
c.3244A= (p.Lys1082=)
c.3019A= (p.Lys1007=)
c.4114A= (p.Lys1372=)
c.2087A=
c.*1410A= (n.*1410A=)
n.5053A=
n.3654A=
c.4165A= (p.Lys1389=)
c.4213A= (p.Lys1405=)
c.4273A= (p.Lys1425=)
c.3823A= (p.Lys1275=)
c.2125A= (p.Lys709=)
c.1942A= (p.Lys648=)
c.4174A= (p.Lys1392=)
c.4126A= (p.Lys1376=)
c.3895A= (p.Lys1299=)
c.3796A= (p.Lys1266=)
c.2977A= (p.Lys993=)
n.4528A=
13g.51934846G>ACA6988428ATP7Bc.*1958C>T (n.*1958C>T)
c.*3052C>T (n.*3052C>T)
c.3687C>T (p.Asp1229=)
c.4308C>T (p.Asp1436=)
c.3975C>T (p.Asp1325=)
c.4056C>T (p.Asp1352=)
n.1631C>T
c.4074C>T (p.Asp1358=)
n.4447C>T
n.1174C>T
c.3243C>T (p.Asp1081=)
c.3018C>T (p.Asp1006=)
c.4113C>T (p.Asp1371=)
c.2086C>T
c.*1409C>T (n.*1409C>T)
n.5052C>T
n.3653C>T
c.4164C>T (p.Asp1388=)
c.4212C>T (p.Asp1404=)
c.4272C>T (p.Asp1424=)
c.3822C>T (p.Asp1274=)
c.2124C>T (p.Asp708=)
c.1941C>T (p.Asp647=)
c.4173C>T (p.Asp1391=)
c.4125C>T (p.Asp1375=)
c.3894C>T (p.Asp1298=)
c.3795C>T (p.Asp1265=)
c.2976C>T (p.Asp992=)
n.4527C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934846G>CCA388019124ATP7Bc.*1958C>G (n.*1958C>G)
c.*3052C>G (n.*3052C>G)
c.3687C>G (p.Asp1229Glu)
c.4308C>G (p.Asp1436Glu)
c.3975C>G (p.Asp1325Glu)
c.4056C>G (p.Asp1352Glu)
n.1631C>G
c.4074C>G (p.Asp1358Glu)
n.4447C>G
n.1174C>G
c.3243C>G (p.Asp1081Glu)
c.3018C>G (p.Asp1006Glu)
c.4113C>G (p.Asp1371Glu)
c.2086C>G
c.*1409C>G (n.*1409C>G)
n.5052C>G
n.3653C>G
c.4164C>G (p.Asp1388Glu)
c.4212C>G (p.Asp1404Glu)
c.4272C>G (p.Asp1424Glu)
c.3822C>G (p.Asp1274Glu)
c.2124C>G (p.Asp708Glu)
c.1941C>G (p.Asp647Glu)
c.4173C>G (p.Asp1391Glu)
c.4125C>G (p.Asp1375Glu)
c.3894C>G (p.Asp1298Glu)
c.3795C>G (p.Asp1265Glu)
c.2976C>G (p.Asp992Glu)
n.4527C>G
 gnomAD v4
13g.51934846G=CA2091550262ATP7Bc.*1958C= (n.*1958C=)
c.*3052C= (n.*3052C=)
c.3687C= (p.Asp1229=)
c.4308C= (p.Asp1436=)
c.3975C= (p.Asp1325=)
c.4056C= (p.Asp1352=)
n.1631C=
c.4074C= (p.Asp1358=)
n.4447C=
n.1174C=
c.3243C= (p.Asp1081=)
c.3018C= (p.Asp1006=)
c.4113C= (p.Asp1371=)
c.2086C=
c.*1409C= (n.*1409C=)
n.5052C=
n.3653C=
c.4164C= (p.Asp1388=)
c.4212C= (p.Asp1404=)
c.4272C= (p.Asp1424=)
c.3822C= (p.Asp1274=)
c.2124C= (p.Asp708=)
c.1941C= (p.Asp647=)
c.4173C= (p.Asp1391=)
c.4125C= (p.Asp1375=)
c.3894C= (p.Asp1298=)
c.3795C= (p.Asp1265=)
c.2976C= (p.Asp992=)
n.4527C=
13g.51934846G>TCA388019125ATP7Bc.*1958C>A (n.*1958C>A)
c.*3052C>A (n.*3052C>A)
c.3687C>A (p.Asp1229Glu)
c.4308C>A (p.Asp1436Glu)
c.3975C>A (p.Asp1325Glu)
c.4056C>A (p.Asp1352Glu)
n.1631C>A
c.4074C>A (p.Asp1358Glu)
n.4447C>A
n.1174C>A
c.3243C>A (p.Asp1081Glu)
c.3018C>A (p.Asp1006Glu)
c.4113C>A (p.Asp1371Glu)
c.2086C>A
c.*1409C>A (n.*1409C>A)
n.5052C>A
n.3653C>A
c.4164C>A (p.Asp1388Glu)
c.4212C>A (p.Asp1404Glu)
c.4272C>A (p.Asp1424Glu)
c.3822C>A (p.Asp1274Glu)
c.2124C>A (p.Asp708Glu)
c.1941C>A (p.Asp647Glu)
c.4173C>A (p.Asp1391Glu)
c.4125C>A (p.Asp1375Glu)
c.3894C>A (p.Asp1298Glu)
c.3795C>A (p.Asp1265Glu)
c.2976C>A (p.Asp992Glu)
n.4527C>A
13g.51934847T>ACA388019127ATP7Bc.*1957A>T (n.*1957A>T)
c.*3051A>T (n.*3051A>T)
c.3686A>T (p.Asp1229Val)
c.4307A>T (p.Asp1436Val)
c.3974A>T (p.Asp1325Val)
c.4055A>T (p.Asp1352Val)
n.1630A>T
c.4073A>T (p.Asp1358Val)
n.4446A>T
n.1173A>T
c.3242A>T (p.Asp1081Val)
c.3017A>T (p.Asp1006Val)
c.4112A>T (p.Asp1371Val)
c.2085A>T
c.*1408A>T (n.*1408A>T)
n.5051A>T
n.3652A>T
c.4163A>T (p.Asp1388Val)
c.4211A>T (p.Asp1404Val)
c.4271A>T (p.Asp1424Val)
c.3821A>T (p.Asp1274Val)
c.2123A>T (p.Asp708Val)
c.1940A>T (p.Asp647Val)
c.4172A>T (p.Asp1391Val)
c.4124A>T (p.Asp1375Val)
c.3893A>T (p.Asp1298Val)
c.3794A>T (p.Asp1265Val)
c.2975A>T (p.Asp992Val)
n.4526A>T
13g.51934847T>CCA388019128ATP7Bc.*1957A>G (n.*1957A>G)
c.*3051A>G (n.*3051A>G)
c.3686A>G (p.Asp1229Gly)
c.4307A>G (p.Asp1436Gly)
c.3974A>G (p.Asp1325Gly)
c.4055A>G (p.Asp1352Gly)
n.1630A>G
c.4073A>G (p.Asp1358Gly)
n.4446A>G
n.1173A>G
c.3242A>G (p.Asp1081Gly)
c.3017A>G (p.Asp1006Gly)
c.4112A>G (p.Asp1371Gly)
c.2085A>G
c.*1408A>G (n.*1408A>G)
n.5051A>G
n.3652A>G
c.4163A>G (p.Asp1388Gly)
c.4211A>G (p.Asp1404Gly)
c.4271A>G (p.Asp1424Gly)
c.3821A>G (p.Asp1274Gly)
c.2123A>G (p.Asp708Gly)
c.1940A>G (p.Asp647Gly)
c.4172A>G (p.Asp1391Gly)
c.4124A>G (p.Asp1375Gly)
c.3893A>G (p.Asp1298Gly)
c.3794A>G (p.Asp1265Gly)
c.2975A>G (p.Asp992Gly)
n.4526A>G
 gnomAD v4 COSMIC
13g.51934847T>GCA388019129ATP7Bc.*1957A>C (n.*1957A>C)
c.*3051A>C (n.*3051A>C)
c.3686A>C (p.Asp1229Ala)
c.4307A>C (p.Asp1436Ala)
c.3974A>C (p.Asp1325Ala)
c.4055A>C (p.Asp1352Ala)
n.1630A>C
c.4073A>C (p.Asp1358Ala)
n.4446A>C
n.1173A>C
c.3242A>C (p.Asp1081Ala)
c.3017A>C (p.Asp1006Ala)
c.4112A>C (p.Asp1371Ala)
c.2085A>C
c.*1408A>C (n.*1408A>C)
n.5051A>C
n.3652A>C
c.4163A>C (p.Asp1388Ala)
c.4211A>C (p.Asp1404Ala)
c.4271A>C (p.Asp1424Ala)
c.3821A>C (p.Asp1274Ala)
c.2123A>C (p.Asp708Ala)
c.1940A>C (p.Asp647Ala)
c.4172A>C (p.Asp1391Ala)
c.4124A>C (p.Asp1375Ala)
c.3893A>C (p.Asp1298Ala)
c.3794A>C (p.Asp1265Ala)
c.2975A>C (p.Asp992Ala)
n.4526A>C
13g.51934848C>ACA388019131ATP7Bc.*1956G>T (n.*1956G>T)
c.*3050G>T (n.*3050G>T)
c.3685G>T (p.Asp1229Tyr)
c.4306G>T (p.Asp1436Tyr)
c.3973G>T (p.Asp1325Tyr)
c.4054G>T (p.Asp1352Tyr)
n.1629G>T
c.4072G>T (p.Asp1358Tyr)
n.4445G>T
n.1172G>T
c.3241G>T (p.Asp1081Tyr)
c.3016G>T (p.Asp1006Tyr)
c.4111G>T (p.Asp1371Tyr)
c.2084G>T
c.*1407G>T (n.*1407G>T)
n.5050G>T
n.3651G>T
c.4162G>T (p.Asp1388Tyr)
c.4210G>T (p.Asp1404Tyr)
c.4270G>T (p.Asp1424Tyr)
c.3820G>T (p.Asp1274Tyr)
c.2122G>T (p.Asp708Tyr)
c.1939G>T (p.Asp647Tyr)
c.4171G>T (p.Asp1391Tyr)
c.4123G>T (p.Asp1375Tyr)
c.3892G>T (p.Asp1298Tyr)
c.3793G>T (p.Asp1265Tyr)
c.2974G>T (p.Asp992Tyr)
n.4525G>T
13g.51934848C=CA2091550263ATP7Bc.*1956G= (n.*1956G=)
c.*3050G= (n.*3050G=)
c.3685G= (p.Asp1229=)
c.4306G= (p.Asp1436=)
c.3973G= (p.Asp1325=)
c.4054G= (p.Asp1352=)
n.1629G=
c.4072G= (p.Asp1358=)
n.4445G=
n.1172G=
c.3241G= (p.Asp1081=)
c.3016G= (p.Asp1006=)
c.4111G= (p.Asp1371=)
c.2084G=
c.*1407G= (n.*1407G=)
n.5050G=
n.3651G=
c.4162G= (p.Asp1388=)
c.4210G= (p.Asp1404=)
c.4270G= (p.Asp1424=)
c.3820G= (p.Asp1274=)
c.2122G= (p.Asp708=)
c.1939G= (p.Asp647=)
c.4171G= (p.Asp1391=)
c.4123G= (p.Asp1375=)
c.3892G= (p.Asp1298=)
c.3793G= (p.Asp1265=)
c.2974G= (p.Asp992=)
n.4525G=
13g.51934848C>GCA388019134ATP7Bc.*1956G>C (n.*1956G>C)
c.*3050G>C (n.*3050G>C)
c.3685G>C (p.Asp1229His)
c.4306G>C (p.Asp1436His)
c.3973G>C (p.Asp1325His)
c.4054G>C (p.Asp1352His)
n.1629G>C
c.4072G>C (p.Asp1358His)
n.4445G>C
n.1172G>C
c.3241G>C (p.Asp1081His)
c.3016G>C (p.Asp1006His)
c.4111G>C (p.Asp1371His)
c.2084G>C
c.*1407G>C (n.*1407G>C)
n.5050G>C
n.3651G>C
c.4162G>C (p.Asp1388His)
c.4210G>C (p.Asp1404His)
c.4270G>C (p.Asp1424His)
c.3820G>C (p.Asp1274His)
c.2122G>C (p.Asp708His)
c.1939G>C (p.Asp647His)
c.4171G>C (p.Asp1391His)
c.4123G>C (p.Asp1375His)
c.3892G>C (p.Asp1298His)
c.3793G>C (p.Asp1265His)
c.2974G>C (p.Asp992His)
n.4525G>C
13g.51934848C>TCA6988429ATP7Bc.*1956G>A (n.*1956G>A)
c.*3050G>A (n.*3050G>A)
c.3685G>A (p.Asp1229Asn)
c.4306G>A (p.Asp1436Asn)
c.3973G>A (p.Asp1325Asn)
c.4054G>A (p.Asp1352Asn)
n.1629G>A
c.4072G>A (p.Asp1358Asn)
n.4445G>A
n.1172G>A
c.3241G>A (p.Asp1081Asn)
c.3016G>A (p.Asp1006Asn)
c.4111G>A (p.Asp1371Asn)
c.2084G>A
c.*1407G>A (n.*1407G>A)
n.5050G>A
n.3651G>A
c.4162G>A (p.Asp1388Asn)
c.4210G>A (p.Asp1404Asn)
c.4270G>A (p.Asp1424Asn)
c.3820G>A (p.Asp1274Asn)
c.2122G>A (p.Asp708Asn)
c.1939G>A (p.Asp647Asn)
c.4171G>A (p.Asp1391Asn)
c.4123G>A (p.Asp1375Asn)
c.3892G>A (p.Asp1298Asn)
c.3793G>A (p.Asp1265Asn)
c.2974G>A (p.Asp992Asn)
n.4525G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934849G>ACA6988430ATP7Bc.*1955C>T (n.*1955C>T)
c.*3049C>T (n.*3049C>T)
c.3684C>T (p.Ser1228=)
c.4305C>T (p.Ser1435=)
c.3972C>T (p.Ser1324=)
c.4053C>T (p.Ser1351=)
n.1628C>T
c.4071C>T (p.Ser1357=)
n.4444C>T
n.1171C>T
c.3240C>T (p.Ser1080=)
c.3015C>T (p.Ser1005=)
c.4110C>T (p.Ser1370=)
c.2083C>T
c.*1406C>T (n.*1406C>T)
n.5049C>T
n.3650C>T
c.4161C>T (p.Ser1387=)
c.4209C>T (p.Ser1403=)
c.4269C>T (p.Ser1423=)
c.3819C>T (p.Ser1273=)
c.2121C>T (p.Ser707=)
c.1938C>T (p.Ser646=)
c.4170C>T (p.Ser1390=)
c.4122C>T (p.Ser1374=)
c.3891C>T (p.Ser1297=)
c.3792C>T (p.Ser1264=)
c.2973C>T (p.Ser991=)
n.4524C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934849G>CCA484024118ATP7Bc.*1955C>G (n.*1955C>G)
c.*3049C>G (n.*3049C>G)
c.3684C>G (p.Ser1228=)
c.4305C>G (p.Ser1435=)
c.3972C>G (p.Ser1324=)
c.4053C>G (p.Ser1351=)
n.1628C>G
c.4071C>G (p.Ser1357=)
n.4444C>G
n.1171C>G
c.3240C>G (p.Ser1080=)
c.3015C>G (p.Ser1005=)
c.4110C>G (p.Ser1370=)
c.2083C>G
c.*1406C>G (n.*1406C>G)
n.5049C>G
n.3650C>G
c.4161C>G (p.Ser1387=)
c.4209C>G (p.Ser1403=)
c.4269C>G (p.Ser1423=)
c.3819C>G (p.Ser1273=)
c.2121C>G (p.Ser707=)
c.1938C>G (p.Ser646=)
c.4170C>G (p.Ser1390=)
c.4122C>G (p.Ser1374=)
c.3891C>G (p.Ser1297=)
c.3792C>G (p.Ser1264=)
c.2973C>G (p.Ser991=)
n.4524C>G
 ClinVar dbSNP gnomAD v2
13g.51934849G=CA2091550264ATP7Bc.*1955C= (n.*1955C=)
c.*3049C= (n.*3049C=)
c.3684C= (p.Ser1228=)
c.4305C= (p.Ser1435=)
c.3972C= (p.Ser1324=)
c.4053C= (p.Ser1351=)
n.1628C=
c.4071C= (p.Ser1357=)
n.4444C=
n.1171C=
c.3240C= (p.Ser1080=)
c.3015C= (p.Ser1005=)
c.4110C= (p.Ser1370=)
c.2083C=
c.*1406C= (n.*1406C=)
n.5049C=
n.3650C=
c.4161C= (p.Ser1387=)
c.4209C= (p.Ser1403=)
c.4269C= (p.Ser1423=)
c.3819C= (p.Ser1273=)
c.2121C= (p.Ser707=)
c.1938C= (p.Ser646=)
c.4170C= (p.Ser1390=)
c.4122C= (p.Ser1374=)
c.3891C= (p.Ser1297=)
c.3792C= (p.Ser1264=)
c.2973C= (p.Ser991=)
n.4524C=
13g.51934849G>TCA484024119ATP7Bc.*1955C>A (n.*1955C>A)
c.*3049C>A (n.*3049C>A)
c.3684C>A (p.Ser1228=)
c.4305C>A (p.Ser1435=)
c.3972C>A (p.Ser1324=)
c.4053C>A (p.Ser1351=)
n.1628C>A
c.4071C>A (p.Ser1357=)
n.4444C>A
n.1171C>A
c.3240C>A (p.Ser1080=)
c.3015C>A (p.Ser1005=)
c.4110C>A (p.Ser1370=)
c.2083C>A
c.*1406C>A (n.*1406C>A)
n.5049C>A
n.3650C>A
c.4161C>A (p.Ser1387=)
c.4209C>A (p.Ser1403=)
c.4269C>A (p.Ser1423=)
c.3819C>A (p.Ser1273=)
c.2121C>A (p.Ser707=)
c.1938C>A (p.Ser646=)
c.4170C>A (p.Ser1390=)
c.4122C>A (p.Ser1374=)
c.3891C>A (p.Ser1297=)
c.3792C>A (p.Ser1264=)
c.2973C>A (p.Ser991=)
n.4524C>A
 COSMIC
13g.51934850G>ACA388019136ATP7Bc.*1954C>T (n.*1954C>T)
c.*3048C>T (n.*3048C>T)
c.3683C>T (p.Ser1228Phe)
c.4304C>T (p.Ser1435Phe)
c.3971C>T (p.Ser1324Phe)
c.4052C>T (p.Ser1351Phe)
n.1627C>T
c.4070C>T (p.Ser1357Phe)
n.4443C>T
n.1170C>T
c.3239C>T (p.Ser1080Phe)
c.3014C>T (p.Ser1005Phe)
c.4109C>T (p.Ser1370Phe)
c.2082C>T
c.*1405C>T (n.*1405C>T)
n.5048C>T
n.3649C>T
c.4160C>T (p.Ser1387Phe)
c.4208C>T (p.Ser1403Phe)
c.4268C>T (p.Ser1423Phe)
c.3818C>T (p.Ser1273Phe)
c.2120C>T (p.Ser707Phe)
c.1937C>T (p.Ser646Phe)
c.4169C>T (p.Ser1390Phe)
c.4121C>T (p.Ser1374Phe)
c.3890C>T (p.Ser1297Phe)
c.3791C>T (p.Ser1264Phe)
c.2972C>T (p.Ser991Phe)
n.4523C>T
13g.51934850G>CCA388019137ATP7Bc.*1954C>G (n.*1954C>G)
c.*3048C>G (n.*3048C>G)
c.3683C>G (p.Ser1228Cys)
c.4304C>G (p.Ser1435Cys)
c.3971C>G (p.Ser1324Cys)
c.4052C>G (p.Ser1351Cys)
n.1627C>G
c.4070C>G (p.Ser1357Cys)
n.4443C>G
n.1170C>G
c.3239C>G (p.Ser1080Cys)
c.3014C>G (p.Ser1005Cys)
c.4109C>G (p.Ser1370Cys)
c.2082C>G
c.*1405C>G (n.*1405C>G)
n.5048C>G
n.3649C>G
c.4160C>G (p.Ser1387Cys)
c.4208C>G (p.Ser1403Cys)
c.4268C>G (p.Ser1423Cys)
c.3818C>G (p.Ser1273Cys)
c.2120C>G (p.Ser707Cys)
c.1937C>G (p.Ser646Cys)
c.4169C>G (p.Ser1390Cys)
c.4121C>G (p.Ser1374Cys)
c.3890C>G (p.Ser1297Cys)
c.3791C>G (p.Ser1264Cys)
c.2972C>G (p.Ser991Cys)
n.4523C>G
13g.51934850G>TCA388019139ATP7Bc.*1954C>A (n.*1954C>A)
c.*3048C>A (n.*3048C>A)
c.3683C>A (p.Ser1228Tyr)
c.4304C>A (p.Ser1435Tyr)
c.3971C>A (p.Ser1324Tyr)
c.4052C>A (p.Ser1351Tyr)
n.1627C>A
c.4070C>A (p.Ser1357Tyr)
n.4443C>A
n.1170C>A
c.3239C>A (p.Ser1080Tyr)
c.3014C>A (p.Ser1005Tyr)
c.4109C>A (p.Ser1370Tyr)
c.2082C>A
c.*1405C>A (n.*1405C>A)
n.5048C>A
n.3649C>A
c.4160C>A (p.Ser1387Tyr)
c.4208C>A (p.Ser1403Tyr)
c.4268C>A (p.Ser1423Tyr)
c.3818C>A (p.Ser1273Tyr)
c.2120C>A (p.Ser707Tyr)
c.1937C>A (p.Ser646Tyr)
c.4169C>A (p.Ser1390Tyr)
c.4121C>A (p.Ser1374Tyr)
c.3890C>A (p.Ser1297Tyr)
c.3791C>A (p.Ser1264Tyr)
c.2972C>A (p.Ser991Tyr)
n.4523C>A
13g.51934851A>CCA388019144ATP7Bc.*1953T>G (n.*1953T>G)
c.*3047T>G (n.*3047T>G)
c.3682T>G (p.Ser1228Ala)
c.4303T>G (p.Ser1435Ala)
c.3970T>G (p.Ser1324Ala)
c.4051T>G (p.Ser1351Ala)
n.1626T>G
c.4069T>G (p.Ser1357Ala)
n.4442T>G
n.1169T>G
c.3238T>G (p.Ser1080Ala)
c.3013T>G (p.Ser1005Ala)
c.4108T>G (p.Ser1370Ala)
c.2081T>G
c.*1404T>G (n.*1404T>G)
n.5047T>G
n.3648T>G
c.4159T>G (p.Ser1387Ala)
c.4207T>G (p.Ser1403Ala)
c.4267T>G (p.Ser1423Ala)
c.3817T>G (p.Ser1273Ala)
c.2119T>G (p.Ser707Ala)
c.1936T>G (p.Ser646Ala)
c.4168T>G (p.Ser1390Ala)
c.4120T>G (p.Ser1374Ala)
c.3889T>G (p.Ser1297Ala)
c.3790T>G (p.Ser1264Ala)
c.2971T>G (p.Ser991Ala)
n.4522T>G
13g.51934851A>GCA388019146ATP7Bc.*1953T>C (n.*1953T>C)
c.*3047T>C (n.*3047T>C)
c.3682T>C (p.Ser1228Pro)
c.4303T>C (p.Ser1435Pro)
c.3970T>C (p.Ser1324Pro)
c.4051T>C (p.Ser1351Pro)
n.1626T>C
c.4069T>C (p.Ser1357Pro)
n.4442T>C
n.1169T>C
c.3238T>C (p.Ser1080Pro)
c.3013T>C (p.Ser1005Pro)
c.4108T>C (p.Ser1370Pro)
c.2081T>C
c.*1404T>C (n.*1404T>C)
n.5047T>C
n.3648T>C
c.4159T>C (p.Ser1387Pro)
c.4207T>C (p.Ser1403Pro)
c.4267T>C (p.Ser1423Pro)
c.3817T>C (p.Ser1273Pro)
c.2119T>C (p.Ser707Pro)
c.1936T>C (p.Ser646Pro)
c.4168T>C (p.Ser1390Pro)
c.4120T>C (p.Ser1374Pro)
c.3889T>C (p.Ser1297Pro)
c.3790T>C (p.Ser1264Pro)
c.2971T>C (p.Ser991Pro)
n.4522T>C
13g.51934851A>TCA388019141ATP7Bc.*1953T>A (n.*1953T>A)
c.*3047T>A (n.*3047T>A)
c.3682T>A (p.Ser1228Thr)
c.4303T>A (p.Ser1435Thr)
c.3970T>A (p.Ser1324Thr)
c.4051T>A (p.Ser1351Thr)
n.1626T>A
c.4069T>A (p.Ser1357Thr)
n.4442T>A
n.1169T>A
c.3238T>A (p.Ser1080Thr)
c.3013T>A (p.Ser1005Thr)
c.4108T>A (p.Ser1370Thr)
c.2081T>A
c.*1404T>A (n.*1404T>A)
n.5047T>A
n.3648T>A
c.4159T>A (p.Ser1387Thr)
c.4207T>A (p.Ser1403Thr)
c.4267T>A (p.Ser1423Thr)
c.3817T>A (p.Ser1273Thr)
c.2119T>A (p.Ser707Thr)
c.1936T>A (p.Ser646Thr)
c.4168T>A (p.Ser1390Thr)
c.4120T>A (p.Ser1374Thr)
c.3889T>A (p.Ser1297Thr)
c.3790T>A (p.Ser1264Thr)
c.2971T>A (p.Ser991Thr)
n.4522T>A
13g.51934852C>ACA484024123ATP7Bc.*1952G>T (n.*1952G>T)
c.*3046G>T (n.*3046G>T)
c.3681G>T (p.Thr1227=)
c.4302G>T (p.Thr1434=)
c.3969G>T (p.Thr1323=)
c.4050G>T (p.Thr1350=)
n.1625G>T
c.4068G>T (p.Thr1356=)
n.4441G>T
n.1168G>T
c.3237G>T (p.Thr1079=)
c.3012G>T (p.Thr1004=)
c.4107G>T (p.Thr1369=)
c.2080G>T
c.*1403G>T (n.*1403G>T)
n.5046G>T
n.3647G>T
c.4158G>T (p.Thr1386=)
c.4206G>T (p.Thr1402=)
c.4266G>T (p.Thr1422=)
c.3816G>T (p.Thr1272=)
c.2118G>T (p.Thr706=)
c.1935G>T (p.Thr645=)
c.4167G>T (p.Thr1389=)
c.4119G>T (p.Thr1373=)
c.3888G>T (p.Thr1296=)
c.3789G>T (p.Thr1263=)
c.2970G>T (p.Thr990=)
n.4521G>T
13g.51934852C=CA2091550267ATP7Bc.*1952G= (n.*1952G=)
c.*3046G= (n.*3046G=)
c.3681G= (p.Thr1227=)
c.4302G= (p.Thr1434=)
c.3969G= (p.Thr1323=)
c.4050G= (p.Thr1350=)
n.1625G=
c.4068G= (p.Thr1356=)
n.4441G=
n.1168G=
c.3237G= (p.Thr1079=)
c.3012G= (p.Thr1004=)
c.4107G= (p.Thr1369=)
c.2080G=
c.*1403G= (n.*1403G=)
n.5046G=
n.3647G=
c.4158G= (p.Thr1386=)
c.4206G= (p.Thr1402=)
c.4266G= (p.Thr1422=)
c.3816G= (p.Thr1272=)
c.2118G= (p.Thr706=)
c.1935G= (p.Thr645=)
c.4167G= (p.Thr1389=)
c.4119G= (p.Thr1373=)
c.3888G= (p.Thr1296=)
c.3789G= (p.Thr1263=)
c.2970G= (p.Thr990=)
n.4521G=
13g.51934852C>GCA484024124ATP7Bc.*1952G>C (n.*1952G>C)
c.*3046G>C (n.*3046G>C)
c.3681G>C (p.Thr1227=)
c.4302G>C (p.Thr1434=)
c.3969G>C (p.Thr1323=)
c.4050G>C (p.Thr1350=)
n.1625G>C
c.4068G>C (p.Thr1356=)
n.4441G>C
n.1168G>C
c.3237G>C (p.Thr1079=)
c.3012G>C (p.Thr1004=)
c.4107G>C (p.Thr1369=)
c.2080G>C
c.*1403G>C (n.*1403G>C)
n.5046G>C
n.3647G>C
c.4158G>C (p.Thr1386=)
c.4206G>C (p.Thr1402=)
c.4266G>C (p.Thr1422=)
c.3816G>C (p.Thr1272=)
c.2118G>C (p.Thr706=)
c.1935G>C (p.Thr645=)
c.4167G>C (p.Thr1389=)
c.4119G>C (p.Thr1373=)
c.3888G>C (p.Thr1296=)
c.3789G>C (p.Thr1263=)
c.2970G>C (p.Thr990=)
n.4521G>C
13g.51934852C>TCA260153ATP7Bc.*1952G>A (n.*1952G>A)
c.*3046G>A (n.*3046G>A)
c.3681G>A (p.Thr1227=)
c.4302G>A (p.Thr1434=)
c.3969G>A (p.Thr1323=)
c.4050G>A (p.Thr1350=)
n.1625G>A
c.4068G>A (p.Thr1356=)
n.4441G>A
n.1168G>A
c.3237G>A (p.Thr1079=)
c.3012G>A (p.Thr1004=)
c.4107G>A (p.Thr1369=)
c.2080G>A
c.*1403G>A (n.*1403G>A)
n.5046G>A
n.3647G>A
c.4158G>A (p.Thr1386=)
c.4206G>A (p.Thr1402=)
c.4266G>A (p.Thr1422=)
c.3816G>A (p.Thr1272=)
c.2118G>A (p.Thr706=)
c.1935G>A (p.Thr645=)
c.4167G>A (p.Thr1389=)
c.4119G>A (p.Thr1373=)
c.3888G>A (p.Thr1296=)
c.3789G>A (p.Thr1263=)
c.2970G>A (p.Thr990=)
n.4521G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934853G>ACA260152ATP7Bc.*1951C>T (n.*1951C>T)
c.*3045C>T (n.*3045C>T)
c.3680C>T (p.Thr1227Met)
c.4301C>T (p.Thr1434Met)
c.3968C>T (p.Thr1323Met)
c.4049C>T (p.Thr1350Met)
n.1624C>T
c.4067C>T (p.Thr1356Met)
n.4440C>T
n.1167C>T
c.3236C>T (p.Thr1079Met)
c.3011C>T (p.Thr1004Met)
c.4106C>T (p.Thr1369Met)
c.2079C>T
c.*1402C>T (n.*1402C>T)
n.5045C>T
n.3646C>T
c.4157C>T (p.Thr1386Met)
c.4205C>T (p.Thr1402Met)
c.4265C>T (p.Thr1422Met)
c.3815C>T (p.Thr1272Met)
c.2117C>T (p.Thr706Met)
c.1934C>T (p.Thr645Met)
c.4166C>T (p.Thr1389Met)
c.4118C>T (p.Thr1373Met)
c.3887C>T (p.Thr1296Met)
c.3788C>T (p.Thr1263Met)
c.2969C>T (p.Thr990Met)
n.4520C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934853G>CCA388019148ATP7Bc.*1951C>G (n.*1951C>G)
c.*3045C>G (n.*3045C>G)
c.3680C>G (p.Thr1227Arg)
c.4301C>G (p.Thr1434Arg)
c.3968C>G (p.Thr1323Arg)
c.4049C>G (p.Thr1350Arg)
n.1624C>G
c.4067C>G (p.Thr1356Arg)
n.4440C>G
n.1167C>G
c.3236C>G (p.Thr1079Arg)
c.3011C>G (p.Thr1004Arg)
c.4106C>G (p.Thr1369Arg)
c.2079C>G
c.*1402C>G (n.*1402C>G)
n.5045C>G
n.3646C>G
c.4157C>G (p.Thr1386Arg)
c.4205C>G (p.Thr1402Arg)
c.4265C>G (p.Thr1422Arg)
c.3815C>G (p.Thr1272Arg)
c.2117C>G (p.Thr706Arg)
c.1934C>G (p.Thr645Arg)
c.4166C>G (p.Thr1389Arg)
c.4118C>G (p.Thr1373Arg)
c.3887C>G (p.Thr1296Arg)
c.3788C>G (p.Thr1263Arg)
c.2969C>G (p.Thr990Arg)
n.4520C>G
13g.51934853G=CA2091550274ATP7Bc.*1951C= (n.*1951C=)
c.*3045C= (n.*3045C=)
c.3680C= (p.Thr1227=)
c.4301C= (p.Thr1434=)
c.3968C= (p.Thr1323=)
c.4049C= (p.Thr1350=)
n.1624C=
c.4067C= (p.Thr1356=)
n.4440C=
n.1167C=
c.3236C= (p.Thr1079=)
c.3011C= (p.Thr1004=)
c.4106C= (p.Thr1369=)
c.2079C=
c.*1402C= (n.*1402C=)
n.5045C=
n.3646C=
c.4157C= (p.Thr1386=)
c.4205C= (p.Thr1402=)
c.4265C= (p.Thr1422=)
c.3815C= (p.Thr1272=)
c.2117C= (p.Thr706=)
c.1934C= (p.Thr645=)
c.4166C= (p.Thr1389=)
c.4118C= (p.Thr1373=)
c.3887C= (p.Thr1296=)
c.3788C= (p.Thr1263=)
c.2969C= (p.Thr990=)
n.4520C=
13g.51934853G>TCA388019149ATP7Bc.*1951C>A (n.*1951C>A)
c.*3045C>A (n.*3045C>A)
c.3680C>A (p.Thr1227Lys)
c.4301C>A (p.Thr1434Lys)
c.3968C>A (p.Thr1323Lys)
c.4049C>A (p.Thr1350Lys)
n.1624C>A
c.4067C>A (p.Thr1356Lys)
n.4440C>A
n.1167C>A
c.3236C>A (p.Thr1079Lys)
c.3011C>A (p.Thr1004Lys)
c.4106C>A (p.Thr1369Lys)
c.2079C>A
c.*1402C>A (n.*1402C>A)
n.5045C>A
n.3646C>A
c.4157C>A (p.Thr1386Lys)
c.4205C>A (p.Thr1402Lys)
c.4265C>A (p.Thr1422Lys)
c.3815C>A (p.Thr1272Lys)
c.2117C>A (p.Thr706Lys)
c.1934C>A (p.Thr645Lys)
c.4166C>A (p.Thr1389Lys)
c.4118C>A (p.Thr1373Lys)
c.3887C>A (p.Thr1296Lys)
c.3788C>A (p.Thr1263Lys)
c.2969C>A (p.Thr990Lys)
n.4520C>A
 gnomAD v4
13g.51934854T>ACA388019150ATP7Bc.*1950A>T (n.*1950A>T)
c.*3044A>T (n.*3044A>T)
c.3679A>T (p.Thr1227Ser)
c.4300A>T (p.Thr1434Ser)
c.3967A>T (p.Thr1323Ser)
c.4048A>T (p.Thr1350Ser)
n.1623A>T
c.4066A>T (p.Thr1356Ser)
n.4439A>T
n.1166A>T
c.3235A>T (p.Thr1079Ser)
c.3010A>T (p.Thr1004Ser)
c.4105A>T (p.Thr1369Ser)
c.2078A>T
c.*1401A>T (n.*1401A>T)
n.5044A>T
n.3645A>T
c.4156A>T (p.Thr1386Ser)
c.4204A>T (p.Thr1402Ser)
c.4264A>T (p.Thr1422Ser)
c.3814A>T (p.Thr1272Ser)
c.2116A>T (p.Thr706Ser)
c.1933A>T (p.Thr645Ser)
c.4165A>T (p.Thr1389Ser)
c.4117A>T (p.Thr1373Ser)
c.3886A>T (p.Thr1296Ser)
c.3787A>T (p.Thr1263Ser)
c.2968A>T (p.Thr990Ser)
n.4519A>T
13g.51934854T>CCA388019152ATP7Bc.*1950A>G (n.*1950A>G)
c.*3044A>G (n.*3044A>G)
c.3679A>G (p.Thr1227Ala)
c.4300A>G (p.Thr1434Ala)
c.3967A>G (p.Thr1323Ala)
c.4048A>G (p.Thr1350Ala)
n.1623A>G
c.4066A>G (p.Thr1356Ala)
n.4439A>G
n.1166A>G
c.3235A>G (p.Thr1079Ala)
c.3010A>G (p.Thr1004Ala)
c.4105A>G (p.Thr1369Ala)
c.2078A>G
c.*1401A>G (n.*1401A>G)
n.5044A>G
n.3645A>G
c.4156A>G (p.Thr1386Ala)
c.4204A>G (p.Thr1402Ala)
c.4264A>G (p.Thr1422Ala)
c.3814A>G (p.Thr1272Ala)
c.2116A>G (p.Thr706Ala)
c.1933A>G (p.Thr645Ala)
c.4165A>G (p.Thr1389Ala)
c.4117A>G (p.Thr1373Ala)
c.3886A>G (p.Thr1296Ala)
c.3787A>G (p.Thr1263Ala)
c.2968A>G (p.Thr990Ala)
n.4519A>G
13g.51934854T>GCA388019154ATP7Bc.*1950A>C (n.*1950A>C)
c.*3044A>C (n.*3044A>C)
c.3679A>C (p.Thr1227Pro)
c.4300A>C (p.Thr1434Pro)
c.3967A>C (p.Thr1323Pro)
c.4048A>C (p.Thr1350Pro)
n.1623A>C
c.4066A>C (p.Thr1356Pro)
n.4439A>C
n.1166A>C
c.3235A>C (p.Thr1079Pro)
c.3010A>C (p.Thr1004Pro)
c.4105A>C (p.Thr1369Pro)
c.2078A>C
c.*1401A>C (n.*1401A>C)
n.5044A>C
n.3645A>C
c.4156A>C (p.Thr1386Pro)
c.4204A>C (p.Thr1402Pro)
c.4264A>C (p.Thr1422Pro)
c.3814A>C (p.Thr1272Pro)
c.2116A>C (p.Thr706Pro)
c.1933A>C (p.Thr645Pro)
c.4165A>C (p.Thr1389Pro)
c.4117A>C (p.Thr1373Pro)
c.3886A>C (p.Thr1296Pro)
c.3787A>C (p.Thr1263Pro)
c.2968A>C (p.Thr990Pro)
n.4519A>C
13g.51934855delCA2580087655ATP7Bc.*1949del (n.*1949del)
c.*3043del (n.*3043del)
c.3678del (p.Thr1227ArgfsTer23)
c.4299del (p.Thr1434ArgfsTer23)
c.3966del (p.Thr1323ArgfsTer23)
c.4047del (p.Thr1350ArgfsTer23)
n.1622del
c.4065del (p.Thr1356ArgfsTer23)
n.4438del
n.1165del
c.3234del (p.Thr1079ArgfsTer23)
c.3009del (p.Thr1004ArgfsTer23)
c.4104del (p.Thr1369ArgfsTer23)
c.2077del
c.*1400del (n.*1400del)
n.5043del
n.3644del
c.4155del (p.Thr1386ArgfsTer23)
c.4203del (p.Thr1402ArgfsTer23)
c.4263del (p.Thr1422ArgfsTer23)
c.3813del (p.Thr1272ArgfsTer23)
c.2115del (p.Thr706ArgfsTer23)
c.1932del (p.Thr645ArgfsTer23)
c.4164del (p.Thr1389ArgfsTer23)
c.4116del (p.Thr1373ArgfsTer23)
c.3885del (p.Thr1296ArgfsTer23)
c.3786del (p.Thr1263ArgfsTer23)
c.2967del (p.Thr990ArgfsTer23)
n.4518del
 ClinVar
13g.51934855C>ACA484024129ATP7Bc.*1949G>T (n.*1949G>T)
c.*3043G>T (n.*3043G>T)
c.3678G>T (p.Leu1226=)
c.4299G>T (p.Leu1433=)
c.3966G>T (p.Leu1322=)
c.4047G>T (p.Leu1349=)
n.1622G>T
c.4065G>T (p.Leu1355=)
n.4438G>T
n.1165G>T
c.3234G>T (p.Leu1078=)
c.3009G>T (p.Leu1003=)
c.4104G>T (p.Leu1368=)
c.2077G>T
c.*1400G>T (n.*1400G>T)
n.5043G>T
n.3644G>T
c.4155G>T (p.Leu1385=)
c.4203G>T (p.Leu1401=)
c.4263G>T (p.Leu1421=)
c.3813G>T (p.Leu1271=)
c.2115G>T (p.Leu705=)
c.1932G>T (p.Leu644=)
c.4164G>T (p.Leu1388=)
c.4116G>T (p.Leu1372=)
c.3885G>T (p.Leu1295=)
c.3786G>T (p.Leu1262=)
c.2967G>T (p.Leu989=)
n.4518G>T
13g.51934855C=CA2091550278ATP7Bc.*1949G= (n.*1949G=)
c.*3043G= (n.*3043G=)
c.3678G= (p.Leu1226=)
c.4299G= (p.Leu1433=)
c.3966G= (p.Leu1322=)
c.4047G= (p.Leu1349=)
n.1622G=
c.4065G= (p.Leu1355=)
n.4438G=
n.1165G=
c.3234G= (p.Leu1078=)
c.3009G= (p.Leu1003=)
c.4104G= (p.Leu1368=)
c.2077G=
c.*1400G= (n.*1400G=)
n.5043G=
n.3644G=
c.4155G= (p.Leu1385=)
c.4203G= (p.Leu1401=)
c.4263G= (p.Leu1421=)
c.3813G= (p.Leu1271=)
c.2115G= (p.Leu705=)
c.1932G= (p.Leu644=)
c.4164G= (p.Leu1388=)
c.4116G= (p.Leu1372=)
c.3885G= (p.Leu1295=)
c.3786G= (p.Leu1262=)
c.2967G= (p.Leu989=)
n.4518G=
13g.51934855C>GCA6988431ATP7Bc.*1949G>C (n.*1949G>C)
c.*3043G>C (n.*3043G>C)
c.3678G>C (p.Leu1226=)
c.4299G>C (p.Leu1433=)
c.3966G>C (p.Leu1322=)
c.4047G>C (p.Leu1349=)
n.1622G>C
c.4065G>C (p.Leu1355=)
n.4438G>C
n.1165G>C
c.3234G>C (p.Leu1078=)
c.3009G>C (p.Leu1003=)
c.4104G>C (p.Leu1368=)
c.2077G>C
c.*1400G>C (n.*1400G>C)
n.5043G>C
n.3644G>C
c.4155G>C (p.Leu1385=)
c.4203G>C (p.Leu1401=)
c.4263G>C (p.Leu1421=)
c.3813G>C (p.Leu1271=)
c.2115G>C (p.Leu705=)
c.1932G>C (p.Leu644=)
c.4164G>C (p.Leu1388=)
c.4116G>C (p.Leu1372=)
c.3885G>C (p.Leu1295=)
c.3786G>C (p.Leu1262=)
c.2967G>C (p.Leu989=)
n.4518G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934855C>TCA484024130ATP7Bc.*1949G>A (n.*1949G>A)
c.*3043G>A (n.*3043G>A)
c.3678G>A (p.Leu1226=)
c.4299G>A (p.Leu1433=)
c.3966G>A (p.Leu1322=)
c.4047G>A (p.Leu1349=)
n.1622G>A
c.4065G>A (p.Leu1355=)
n.4438G>A
n.1165G>A
c.3234G>A (p.Leu1078=)
c.3009G>A (p.Leu1003=)
c.4104G>A (p.Leu1368=)
c.2077G>A
c.*1400G>A (n.*1400G>A)
n.5043G>A
n.3644G>A
c.4155G>A (p.Leu1385=)
c.4203G>A (p.Leu1401=)
c.4263G>A (p.Leu1421=)
c.3813G>A (p.Leu1271=)
c.2115G>A (p.Leu705=)
c.1932G>A (p.Leu644=)
c.4164G>A (p.Leu1388=)
c.4116G>A (p.Leu1372=)
c.3885G>A (p.Leu1295=)
c.3786G>A (p.Leu1262=)
c.2967G>A (p.Leu989=)
n.4518G>A
13g.51934856A>CCA388019157ATP7Bc.*1948T>G (n.*1948T>G)
c.*3042T>G (n.*3042T>G)
c.3677T>G (p.Leu1226Arg)
c.4298T>G (p.Leu1433Arg)
c.3965T>G (p.Leu1322Arg)
c.4046T>G (p.Leu1349Arg)
n.1621T>G
c.4064T>G (p.Leu1355Arg)
n.4437T>G
n.1164T>G
c.3233T>G (p.Leu1078Arg)
c.3008T>G (p.Leu1003Arg)
c.4103T>G (p.Leu1368Arg)
c.2076T>G
c.*1399T>G (n.*1399T>G)
n.5042T>G
n.3643T>G
c.4154T>G (p.Leu1385Arg)
c.4202T>G (p.Leu1401Arg)
c.4262T>G (p.Leu1421Arg)
c.3812T>G (p.Leu1271Arg)
c.2114T>G (p.Leu705Arg)
c.1931T>G (p.Leu644Arg)
c.4163T>G (p.Leu1388Arg)
c.4115T>G (p.Leu1372Arg)
c.3884T>G (p.Leu1295Arg)
c.3785T>G (p.Leu1262Arg)
c.2966T>G (p.Leu989Arg)
n.4517T>G
13g.51934856A>GCA388019159ATP7Bc.*1948T>C (n.*1948T>C)
c.*3042T>C (n.*3042T>C)
c.3677T>C (p.Leu1226Pro)
c.4298T>C (p.Leu1433Pro)
c.3965T>C (p.Leu1322Pro)
c.4046T>C (p.Leu1349Pro)
n.1621T>C
c.4064T>C (p.Leu1355Pro)
n.4437T>C
n.1164T>C
c.3233T>C (p.Leu1078Pro)
c.3008T>C (p.Leu1003Pro)
c.4103T>C (p.Leu1368Pro)
c.2076T>C
c.*1399T>C (n.*1399T>C)
n.5042T>C
n.3643T>C
c.4154T>C (p.Leu1385Pro)
c.4202T>C (p.Leu1401Pro)
c.4262T>C (p.Leu1421Pro)
c.3812T>C (p.Leu1271Pro)
c.2114T>C (p.Leu705Pro)
c.1931T>C (p.Leu644Pro)
c.4163T>C (p.Leu1388Pro)
c.4115T>C (p.Leu1372Pro)
c.3884T>C (p.Leu1295Pro)
c.3785T>C (p.Leu1262Pro)
c.2966T>C (p.Leu989Pro)
n.4517T>C
13g.51934856A>TCA388019160ATP7Bc.*1948T>A (n.*1948T>A)
c.*3042T>A (n.*3042T>A)
c.3677T>A (p.Leu1226Gln)
c.4298T>A (p.Leu1433Gln)
c.3965T>A (p.Leu1322Gln)
c.4046T>A (p.Leu1349Gln)
n.1621T>A
c.4064T>A (p.Leu1355Gln)
n.4437T>A
n.1164T>A
c.3233T>A (p.Leu1078Gln)
c.3008T>A (p.Leu1003Gln)
c.4103T>A (p.Leu1368Gln)
c.2076T>A
c.*1399T>A (n.*1399T>A)
n.5042T>A
n.3643T>A
c.4154T>A (p.Leu1385Gln)
c.4202T>A (p.Leu1401Gln)
c.4262T>A (p.Leu1421Gln)
c.3812T>A (p.Leu1271Gln)
c.2114T>A (p.Leu705Gln)
c.1931T>A (p.Leu644Gln)
c.4163T>A (p.Leu1388Gln)
c.4115T>A (p.Leu1372Gln)
c.3884T>A (p.Leu1295Gln)
c.3785T>A (p.Leu1262Gln)
c.2966T>A (p.Leu989Gln)
n.4517T>A
13g.51934857G>ACA484024132ATP7Bc.*1947C>T (n.*1947C>T)
c.*3041C>T (n.*3041C>T)
c.3676C>T (p.Leu1226=)
c.4297C>T (p.Leu1433=)
c.3964C>T (p.Leu1322=)
c.4045C>T (p.Leu1349=)
n.1620C>T
c.4063C>T (p.Leu1355=)
n.4436C>T
n.1163C>T
c.3232C>T (p.Leu1078=)
c.3007C>T (p.Leu1003=)
c.4102C>T (p.Leu1368=)
c.2075C>T
c.*1398C>T (n.*1398C>T)
n.5041C>T
n.3642C>T
c.4153C>T (p.Leu1385=)
c.4201C>T (p.Leu1401=)
c.4261C>T (p.Leu1421=)
c.3811C>T (p.Leu1271=)
c.2113C>T (p.Leu705=)
c.1930C>T (p.Leu644=)
c.4162C>T (p.Leu1388=)
c.4114C>T (p.Leu1372=)
c.3883C>T (p.Leu1295=)
c.3784C>T (p.Leu1262=)
c.2965C>T (p.Leu989=)
n.4516C>T
 ClinVar dbSNP gnomAD v4
13g.51934857G>CCA388019161ATP7Bc.*1947C>G (n.*1947C>G)
c.*3041C>G (n.*3041C>G)
c.3676C>G (p.Leu1226Val)
c.4297C>G (p.Leu1433Val)
c.3964C>G (p.Leu1322Val)
c.4045C>G (p.Leu1349Val)
n.1620C>G
c.4063C>G (p.Leu1355Val)
n.4436C>G
n.1163C>G
c.3232C>G (p.Leu1078Val)
c.3007C>G (p.Leu1003Val)
c.4102C>G (p.Leu1368Val)
c.2075C>G
c.*1398C>G (n.*1398C>G)
n.5041C>G
n.3642C>G
c.4153C>G (p.Leu1385Val)
c.4201C>G (p.Leu1401Val)
c.4261C>G (p.Leu1421Val)
c.3811C>G (p.Leu1271Val)
c.2113C>G (p.Leu705Val)
c.1930C>G (p.Leu644Val)
c.4162C>G (p.Leu1388Val)
c.4114C>G (p.Leu1372Val)
c.3883C>G (p.Leu1295Val)
c.3784C>G (p.Leu1262Val)
c.2965C>G (p.Leu989Val)
n.4516C>G
13g.51934857G=CA2091550280ATP7Bc.*1947C= (n.*1947C=)
c.*3041C= (n.*3041C=)
c.3676C= (p.Leu1226=)
c.4297C= (p.Leu1433=)
c.3964C= (p.Leu1322=)
c.4045C= (p.Leu1349=)
n.1620C=
c.4063C= (p.Leu1355=)
n.4436C=
n.1163C=
c.3232C= (p.Leu1078=)
c.3007C= (p.Leu1003=)
c.4102C= (p.Leu1368=)
c.2075C=
c.*1398C= (n.*1398C=)
n.5041C=
n.3642C=
c.4153C= (p.Leu1385=)
c.4201C= (p.Leu1401=)
c.4261C= (p.Leu1421=)
c.3811C= (p.Leu1271=)
c.2113C= (p.Leu705=)
c.1930C= (p.Leu644=)
c.4162C= (p.Leu1388=)
c.4114C= (p.Leu1372=)
c.3883C= (p.Leu1295=)
c.3784C= (p.Leu1262=)
c.2965C= (p.Leu989=)
n.4516C=
13g.51934857G>TCA388019162ATP7Bc.*1947C>A (n.*1947C>A)
c.*3041C>A (n.*3041C>A)
c.3676C>A (p.Leu1226Met)
c.4297C>A (p.Leu1433Met)
c.3964C>A (p.Leu1322Met)
c.4045C>A (p.Leu1349Met)
n.1620C>A
c.4063C>A (p.Leu1355Met)
n.4436C>A
n.1163C>A
c.3232C>A (p.Leu1078Met)
c.3007C>A (p.Leu1003Met)
c.4102C>A (p.Leu1368Met)
c.2075C>A
c.*1398C>A (n.*1398C>A)
n.5041C>A
n.3642C>A
c.4153C>A (p.Leu1385Met)
c.4201C>A (p.Leu1401Met)
c.4261C>A (p.Leu1421Met)
c.3811C>A (p.Leu1271Met)
c.2113C>A (p.Leu705Met)
c.1930C>A (p.Leu644Met)
c.4162C>A (p.Leu1388Met)
c.4114C>A (p.Leu1372Met)
c.3883C>A (p.Leu1295Met)
c.3784C>A (p.Leu1262Met)
c.2965C>A (p.Leu989Met)
n.4516C>A
13g.51934858G>ACA6988432ATP7Bc.*1946C>T (n.*1946C>T)
c.*3040C>T (n.*3040C>T)
c.3675C>T (p.Ser1225=)
c.4296C>T (p.Ser1432=)
c.3963C>T (p.Ser1321=)
c.4044C>T (p.Ser1348=)
n.1619C>T
c.4062C>T (p.Ser1354=)
n.4435C>T
n.1162C>T
c.3231C>T (p.Ser1077=)
c.3006C>T (p.Ser1002=)
c.4101C>T (p.Ser1367=)
c.2074C>T
c.*1397C>T (n.*1397C>T)
n.5040C>T
n.3641C>T
c.4152C>T (p.Ser1384=)
c.4200C>T (p.Ser1400=)
c.4260C>T (p.Ser1420=)
c.3810C>T (p.Ser1270=)
c.2112C>T (p.Ser704=)
c.1929C>T (p.Ser643=)
c.4161C>T (p.Ser1387=)
c.4113C>T (p.Ser1371=)
c.3882C>T (p.Ser1294=)
c.3783C>T (p.Ser1261=)
c.2964C>T (p.Ser988=)
n.4515C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934858G>CCA484024136ATP7Bc.*1946C>G (n.*1946C>G)
c.*3040C>G (n.*3040C>G)
c.3675C>G (p.Ser1225=)
c.4296C>G (p.Ser1432=)
c.3963C>G (p.Ser1321=)
c.4044C>G (p.Ser1348=)
n.1619C>G
c.4062C>G (p.Ser1354=)
n.4435C>G
n.1162C>G
c.3231C>G (p.Ser1077=)
c.3006C>G (p.Ser1002=)
c.4101C>G (p.Ser1367=)
c.2074C>G
c.*1397C>G (n.*1397C>G)
n.5040C>G
n.3641C>G
c.4152C>G (p.Ser1384=)
c.4200C>G (p.Ser1400=)
c.4260C>G (p.Ser1420=)
c.3810C>G (p.Ser1270=)
c.2112C>G (p.Ser704=)
c.1929C>G (p.Ser643=)
c.4161C>G (p.Ser1387=)
c.4113C>G (p.Ser1371=)
c.3882C>G (p.Ser1294=)
c.3783C>G (p.Ser1261=)
c.2964C>G (p.Ser988=)
n.4515C>G
13g.51934858G=CA2091550282ATP7Bc.*1946C= (n.*1946C=)
c.*3040C= (n.*3040C=)
c.3675C= (p.Ser1225=)
c.4296C= (p.Ser1432=)
c.3963C= (p.Ser1321=)
c.4044C= (p.Ser1348=)
n.1619C=
c.4062C= (p.Ser1354=)
n.4435C=
n.1162C=
c.3231C= (p.Ser1077=)
c.3006C= (p.Ser1002=)
c.4101C= (p.Ser1367=)
c.2074C=
c.*1397C= (n.*1397C=)
n.5040C=
n.3641C=
c.4152C= (p.Ser1384=)
c.4200C= (p.Ser1400=)
c.4260C= (p.Ser1420=)
c.3810C= (p.Ser1270=)
c.2112C= (p.Ser704=)
c.1929C= (p.Ser643=)
c.4161C= (p.Ser1387=)
c.4113C= (p.Ser1371=)
c.3882C= (p.Ser1294=)
c.3783C= (p.Ser1261=)
c.2964C= (p.Ser988=)
n.4515C=
13g.51934858G>TCA484024137ATP7Bc.*1946C>A (n.*1946C>A)
c.*3040C>A (n.*3040C>A)
c.3675C>A (p.Ser1225=)
c.4296C>A (p.Ser1432=)
c.3963C>A (p.Ser1321=)
c.4044C>A (p.Ser1348=)
n.1619C>A
c.4062C>A (p.Ser1354=)
n.4435C>A
n.1162C>A
c.3231C>A (p.Ser1077=)
c.3006C>A (p.Ser1002=)
c.4101C>A (p.Ser1367=)
c.2074C>A
c.*1397C>A (n.*1397C>A)
n.5040C>A
n.3641C>A
c.4152C>A (p.Ser1384=)
c.4200C>A (p.Ser1400=)
c.4260C>A (p.Ser1420=)
c.3810C>A (p.Ser1270=)
c.2112C>A (p.Ser704=)
c.1929C>A (p.Ser643=)
c.4161C>A (p.Ser1387=)
c.4113C>A (p.Ser1371=)
c.3882C>A (p.Ser1294=)
c.3783C>A (p.Ser1261=)
c.2964C>A (p.Ser988=)
n.4515C>A
13g.51934859G>ACA6988433ATP7Bc.*1945C>T (n.*1945C>T)
c.*3039C>T (n.*3039C>T)
c.3674C>T (p.Ser1225Phe)
c.4295C>T (p.Ser1432Phe)
c.3962C>T (p.Ser1321Phe)
c.4043C>T (p.Ser1348Phe)
n.1618C>T
c.4061C>T (p.Ser1354Phe)
n.4434C>T
n.1161C>T
c.3230C>T (p.Ser1077Phe)
c.3005C>T (p.Ser1002Phe)
c.4100C>T (p.Ser1367Phe)
c.2073C>T
c.*1396C>T (n.*1396C>T)
n.5039C>T
n.3640C>T
c.4151C>T (p.Ser1384Phe)
c.4199C>T (p.Ser1400Phe)
c.4259C>T (p.Ser1420Phe)
c.3809C>T (p.Ser1270Phe)
c.2111C>T (p.Ser704Phe)
c.1928C>T (p.Ser643Phe)
c.4160C>T (p.Ser1387Phe)
c.4112C>T (p.Ser1371Phe)
c.3881C>T (p.Ser1294Phe)
c.3782C>T (p.Ser1261Phe)
c.2963C>T (p.Ser988Phe)
n.4514C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934859G>CCA388019165ATP7Bc.*1945C>G (n.*1945C>G)
c.*3039C>G (n.*3039C>G)
c.3674C>G (p.Ser1225Cys)
c.4295C>G (p.Ser1432Cys)
c.3962C>G (p.Ser1321Cys)
c.4043C>G (p.Ser1348Cys)
n.1618C>G
c.4061C>G (p.Ser1354Cys)
n.4434C>G
n.1161C>G
c.3230C>G (p.Ser1077Cys)
c.3005C>G (p.Ser1002Cys)
c.4100C>G (p.Ser1367Cys)
c.2073C>G
c.*1396C>G (n.*1396C>G)
n.5039C>G
n.3640C>G
c.4151C>G (p.Ser1384Cys)
c.4199C>G (p.Ser1400Cys)
c.4259C>G (p.Ser1420Cys)
c.3809C>G (p.Ser1270Cys)
c.2111C>G (p.Ser704Cys)
c.1928C>G (p.Ser643Cys)
c.4160C>G (p.Ser1387Cys)
c.4112C>G (p.Ser1371Cys)
c.3881C>G (p.Ser1294Cys)
c.3782C>G (p.Ser1261Cys)
c.2963C>G (p.Ser988Cys)
n.4514C>G
13g.51934859G=CA2091550289ATP7Bc.*1945C= (n.*1945C=)
c.*3039C= (n.*3039C=)
c.3674C= (p.Ser1225=)
c.4295C= (p.Ser1432=)
c.3962C= (p.Ser1321=)
c.4043C= (p.Ser1348=)
n.1618C=
c.4061C= (p.Ser1354=)
n.4434C=
n.1161C=
c.3230C= (p.Ser1077=)
c.3005C= (p.Ser1002=)
c.4100C= (p.Ser1367=)
c.2073C=
c.*1396C= (n.*1396C=)
n.5039C=
n.3640C=
c.4151C= (p.Ser1384=)
c.4199C= (p.Ser1400=)
c.4259C= (p.Ser1420=)
c.3809C= (p.Ser1270=)
c.2111C= (p.Ser704=)
c.1928C= (p.Ser643=)
c.4160C= (p.Ser1387=)
c.4112C= (p.Ser1371=)
c.3881C= (p.Ser1294=)
c.3782C= (p.Ser1261=)
c.2963C= (p.Ser988=)
n.4514C=
13g.51934859G>TCA388019166ATP7Bc.*1945C>A (n.*1945C>A)
c.*3039C>A (n.*3039C>A)
c.3674C>A (p.Ser1225Tyr)
c.4295C>A (p.Ser1432Tyr)
c.3962C>A (p.Ser1321Tyr)
c.4043C>A (p.Ser1348Tyr)
n.1618C>A
c.4061C>A (p.Ser1354Tyr)
n.4434C>A
n.1161C>A
c.3230C>A (p.Ser1077Tyr)
c.3005C>A (p.Ser1002Tyr)
c.4100C>A (p.Ser1367Tyr)
c.2073C>A
c.*1396C>A (n.*1396C>A)
n.5039C>A
n.3640C>A
c.4151C>A (p.Ser1384Tyr)
c.4199C>A (p.Ser1400Tyr)
c.4259C>A (p.Ser1420Tyr)
c.3809C>A (p.Ser1270Tyr)
c.2111C>A (p.Ser704Tyr)
c.1928C>A (p.Ser643Tyr)
c.4160C>A (p.Ser1387Tyr)
c.4112C>A (p.Ser1371Tyr)
c.3881C>A (p.Ser1294Tyr)
c.3782C>A (p.Ser1261Tyr)
c.2963C>A (p.Ser988Tyr)
n.4514C>A
13g.51934860A>CCA388019169ATP7Bc.*1944T>G (n.*1944T>G)
c.*3038T>G (n.*3038T>G)
c.3673T>G (p.Ser1225Ala)
c.4294T>G (p.Ser1432Ala)
c.3961T>G (p.Ser1321Ala)
c.4042T>G (p.Ser1348Ala)
n.1617T>G
c.4060T>G (p.Ser1354Ala)
n.4433T>G
n.1160T>G
c.3229T>G (p.Ser1077Ala)
c.3004T>G (p.Ser1002Ala)
c.4099T>G (p.Ser1367Ala)
c.2072T>G
c.*1395T>G (n.*1395T>G)
n.5038T>G
n.3639T>G
c.4150T>G (p.Ser1384Ala)
c.4198T>G (p.Ser1400Ala)
c.4258T>G (p.Ser1420Ala)
c.3808T>G (p.Ser1270Ala)
c.2110T>G (p.Ser704Ala)
c.1927T>G (p.Ser643Ala)
c.4159T>G (p.Ser1387Ala)
c.4111T>G (p.Ser1371Ala)
c.3880T>G (p.Ser1294Ala)
c.3781T>G (p.Ser1261Ala)
c.2962T>G (p.Ser988Ala)
n.4513T>G
13g.51934860A>GCA388019170ATP7Bc.*1944T>C (n.*1944T>C)
c.*3038T>C (n.*3038T>C)
c.3673T>C (p.Ser1225Pro)
c.4294T>C (p.Ser1432Pro)
c.3961T>C (p.Ser1321Pro)
c.4042T>C (p.Ser1348Pro)
n.1617T>C
c.4060T>C (p.Ser1354Pro)
n.4433T>C
n.1160T>C
c.3229T>C (p.Ser1077Pro)
c.3004T>C (p.Ser1002Pro)
c.4099T>C (p.Ser1367Pro)
c.2072T>C
c.*1395T>C (n.*1395T>C)
n.5038T>C
n.3639T>C
c.4150T>C (p.Ser1384Pro)
c.4198T>C (p.Ser1400Pro)
c.4258T>C (p.Ser1420Pro)
c.3808T>C (p.Ser1270Pro)
c.2110T>C (p.Ser704Pro)
c.1927T>C (p.Ser643Pro)
c.4159T>C (p.Ser1387Pro)
c.4111T>C (p.Ser1371Pro)
c.3880T>C (p.Ser1294Pro)
c.3781T>C (p.Ser1261Pro)
c.2962T>C (p.Ser988Pro)
n.4513T>C
13g.51934860A>TCA388019171ATP7Bc.*1944T>A (n.*1944T>A)
c.*3038T>A (n.*3038T>A)
c.3673T>A (p.Ser1225Thr)
c.4294T>A (p.Ser1432Thr)
c.3961T>A (p.Ser1321Thr)
c.4042T>A (p.Ser1348Thr)
n.1617T>A
c.4060T>A (p.Ser1354Thr)
n.4433T>A
n.1160T>A
c.3229T>A (p.Ser1077Thr)
c.3004T>A (p.Ser1002Thr)
c.4099T>A (p.Ser1367Thr)
c.2072T>A
c.*1395T>A (n.*1395T>A)
n.5038T>A
n.3639T>A
c.4150T>A (p.Ser1384Thr)
c.4198T>A (p.Ser1400Thr)
c.4258T>A (p.Ser1420Thr)
c.3808T>A (p.Ser1270Thr)
c.2110T>A (p.Ser704Thr)
c.1927T>A (p.Ser643Thr)
c.4159T>A (p.Ser1387Thr)
c.4111T>A (p.Ser1371Thr)
c.3880T>A (p.Ser1294Thr)
c.3781T>A (p.Ser1261Thr)
c.2962T>A (p.Ser988Thr)
n.4513T>A
13g.51934861G>ACA484024139ATP7Bc.*1943C>T (n.*1943C>T)
c.*3037C>T (n.*3037C>T)
c.3672C>T (p.Ser1224=)
c.4293C>T (p.Ser1431=)
c.3960C>T (p.Ser1320=)
c.4041C>T (p.Ser1347=)
n.1616C>T
c.4059C>T (p.Ser1353=)
n.4432C>T
n.1159C>T
c.3228C>T (p.Ser1076=)
c.3003C>T (p.Ser1001=)
c.4098C>T (p.Ser1366=)
c.2071C>T
c.*1394C>T (n.*1394C>T)
n.5037C>T
n.3638C>T
c.4149C>T (p.Ser1383=)
c.4197C>T (p.Ser1399=)
c.4257C>T (p.Ser1419=)
c.3807C>T (p.Ser1269=)
c.2109C>T (p.Ser703=)
c.1926C>T (p.Ser642=)
c.4158C>T (p.Ser1386=)
c.4110C>T (p.Ser1370=)
c.3879C>T (p.Ser1293=)
c.3780C>T (p.Ser1260=)
c.2961C>T (p.Ser987=)
n.4512C>T
 gnomAD v4
13g.51934861G>CCA484024140ATP7Bc.*1943C>G (n.*1943C>G)
c.*3037C>G (n.*3037C>G)
c.3672C>G (p.Ser1224=)
c.4293C>G (p.Ser1431=)
c.3960C>G (p.Ser1320=)
c.4041C>G (p.Ser1347=)
n.1616C>G
c.4059C>G (p.Ser1353=)
n.4432C>G
n.1159C>G
c.3228C>G (p.Ser1076=)
c.3003C>G (p.Ser1001=)
c.4098C>G (p.Ser1366=)
c.2071C>G
c.*1394C>G (n.*1394C>G)
n.5037C>G
n.3638C>G
c.4149C>G (p.Ser1383=)
c.4197C>G (p.Ser1399=)
c.4257C>G (p.Ser1419=)
c.3807C>G (p.Ser1269=)
c.2109C>G (p.Ser703=)
c.1926C>G (p.Ser642=)
c.4158C>G (p.Ser1386=)
c.4110C>G (p.Ser1370=)
c.3879C>G (p.Ser1293=)
c.3780C>G (p.Ser1260=)
c.2961C>G (p.Ser987=)
n.4512C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51934861G=CA2091550293ATP7Bc.*1943C= (n.*1943C=)
c.*3037C= (n.*3037C=)
c.3672C= (p.Ser1224=)
c.4293C= (p.Ser1431=)
c.3960C= (p.Ser1320=)
c.4041C= (p.Ser1347=)
n.1616C=
c.4059C= (p.Ser1353=)
n.4432C=
n.1159C=
c.3228C= (p.Ser1076=)
c.3003C= (p.Ser1001=)
c.4098C= (p.Ser1366=)
c.2071C=
c.*1394C= (n.*1394C=)
n.5037C=
n.3638C=
c.4149C= (p.Ser1383=)
c.4197C= (p.Ser1399=)
c.4257C= (p.Ser1419=)
c.3807C= (p.Ser1269=)
c.2109C= (p.Ser703=)
c.1926C= (p.Ser642=)
c.4158C= (p.Ser1386=)
c.4110C= (p.Ser1370=)
c.3879C= (p.Ser1293=)
c.3780C= (p.Ser1260=)
c.2961C= (p.Ser987=)
n.4512C=
13g.51934861G>TCA484024141ATP7Bc.*1943C>A (n.*1943C>A)
c.*3037C>A (n.*3037C>A)
c.3672C>A (p.Ser1224=)
c.4293C>A (p.Ser1431=)
c.3960C>A (p.Ser1320=)
c.4041C>A (p.Ser1347=)
n.1616C>A
c.4059C>A (p.Ser1353=)
n.4432C>A
n.1159C>A
c.3228C>A (p.Ser1076=)
c.3003C>A (p.Ser1001=)
c.4098C>A (p.Ser1366=)
c.2071C>A
c.*1394C>A (n.*1394C>A)
n.5037C>A
n.3638C>A
c.4149C>A (p.Ser1383=)
c.4197C>A (p.Ser1399=)
c.4257C>A (p.Ser1419=)
c.3807C>A (p.Ser1269=)
c.2109C>A (p.Ser703=)
c.1926C>A (p.Ser642=)
c.4158C>A (p.Ser1386=)
c.4110C>A (p.Ser1370=)
c.3879C>A (p.Ser1293=)
c.3780C>A (p.Ser1260=)
c.2961C>A (p.Ser987=)
n.4512C>A
13g.51934862G>ACA388019172ATP7Bc.*1942C>T (n.*1942C>T)
c.*3036C>T (n.*3036C>T)
c.3671C>T (p.Ser1224Phe)
c.4292C>T (p.Ser1431Phe)
c.3959C>T (p.Ser1320Phe)
c.4040C>T (p.Ser1347Phe)
n.1615C>T
c.4058C>T (p.Ser1353Phe)
n.4431C>T
n.1158C>T
c.3227C>T (p.Ser1076Phe)
c.3002C>T (p.Ser1001Phe)
c.4097C>T (p.Ser1366Phe)
c.2070C>T
c.*1393C>T (n.*1393C>T)
n.5036C>T
n.3637C>T
c.4148C>T (p.Ser1383Phe)
c.4196C>T (p.Ser1399Phe)
c.4256C>T (p.Ser1419Phe)
c.3806C>T (p.Ser1269Phe)
c.2108C>T (p.Ser703Phe)
c.1925C>T (p.Ser642Phe)
c.4157C>T (p.Ser1386Phe)
c.4109C>T (p.Ser1370Phe)
c.3878C>T (p.Ser1293Phe)
c.3779C>T (p.Ser1260Phe)
c.2960C>T (p.Ser987Phe)
n.4511C>T
 gnomAD v4
13g.51934862G>CCA388019173ATP7Bc.*1942C>G (n.*1942C>G)
c.*3036C>G (n.*3036C>G)
c.3671C>G (p.Ser1224Cys)
c.4292C>G (p.Ser1431Cys)
c.3959C>G (p.Ser1320Cys)
c.4040C>G (p.Ser1347Cys)
n.1615C>G
c.4058C>G (p.Ser1353Cys)
n.4431C>G
n.1158C>G
c.3227C>G (p.Ser1076Cys)
c.3002C>G (p.Ser1001Cys)
c.4097C>G (p.Ser1366Cys)
c.2070C>G
c.*1393C>G (n.*1393C>G)
n.5036C>G
n.3637C>G
c.4148C>G (p.Ser1383Cys)
c.4196C>G (p.Ser1399Cys)
c.4256C>G (p.Ser1419Cys)
c.3806C>G (p.Ser1269Cys)
c.2108C>G (p.Ser703Cys)
c.1925C>G (p.Ser642Cys)
c.4157C>G (p.Ser1386Cys)
c.4109C>G (p.Ser1370Cys)
c.3878C>G (p.Ser1293Cys)
c.3779C>G (p.Ser1260Cys)
c.2960C>G (p.Ser987Cys)
n.4511C>G
13g.51934862G>TCA388019175ATP7Bc.*1942C>A (n.*1942C>A)
c.*3036C>A (n.*3036C>A)
c.3671C>A (p.Ser1224Tyr)
c.4292C>A (p.Ser1431Tyr)
c.3959C>A (p.Ser1320Tyr)
c.4040C>A (p.Ser1347Tyr)
n.1615C>A
c.4058C>A (p.Ser1353Tyr)
n.4431C>A
n.1158C>A
c.3227C>A (p.Ser1076Tyr)
c.3002C>A (p.Ser1001Tyr)
c.4097C>A (p.Ser1366Tyr)
c.2070C>A
c.*1393C>A (n.*1393C>A)
n.5036C>A
n.3637C>A
c.4148C>A (p.Ser1383Tyr)
c.4196C>A (p.Ser1399Tyr)
c.4256C>A (p.Ser1419Tyr)
c.3806C>A (p.Ser1269Tyr)
c.2108C>A (p.Ser703Tyr)
c.1925C>A (p.Ser642Tyr)
c.4157C>A (p.Ser1386Tyr)
c.4109C>A (p.Ser1370Tyr)
c.3878C>A (p.Ser1293Tyr)
c.3779C>A (p.Ser1260Tyr)
c.2960C>A (p.Ser987Tyr)
n.4511C>A
13g.51934863A>CCA388019176ATP7Bc.*1941T>G (n.*1941T>G)
c.*3035T>G (n.*3035T>G)
c.3670T>G (p.Ser1224Ala)
c.4291T>G (p.Ser1431Ala)
c.3958T>G (p.Ser1320Ala)
c.4039T>G (p.Ser1347Ala)
n.1614T>G
c.4057T>G (p.Ser1353Ala)
n.4430T>G
n.1157T>G
c.3226T>G (p.Ser1076Ala)
c.3001T>G (p.Ser1001Ala)
c.4096T>G (p.Ser1366Ala)
c.2069T>G
c.*1392T>G (n.*1392T>G)
n.5035T>G
n.3636T>G
c.4147T>G (p.Ser1383Ala)
c.4195T>G (p.Ser1399Ala)
c.4255T>G (p.Ser1419Ala)
c.3805T>G (p.Ser1269Ala)
c.2107T>G (p.Ser703Ala)
c.1924T>G (p.Ser642Ala)
c.4156T>G (p.Ser1386Ala)
c.4108T>G (p.Ser1370Ala)
c.3877T>G (p.Ser1293Ala)
c.3778T>G (p.Ser1260Ala)
c.2959T>G (p.Ser987Ala)
n.4510T>G
13g.51934863A>GCA388019178ATP7Bc.*1941T>C (n.*1941T>C)
c.*3035T>C (n.*3035T>C)
c.3670T>C (p.Ser1224Pro)
c.4291T>C (p.Ser1431Pro)
c.3958T>C (p.Ser1320Pro)
c.4039T>C (p.Ser1347Pro)
n.1614T>C
c.4057T>C (p.Ser1353Pro)
n.4430T>C
n.1157T>C
c.3226T>C (p.Ser1076Pro)
c.3001T>C (p.Ser1001Pro)
c.4096T>C (p.Ser1366Pro)
c.2069T>C
c.*1392T>C (n.*1392T>C)
n.5035T>C
n.3636T>C
c.4147T>C (p.Ser1383Pro)
c.4195T>C (p.Ser1399Pro)
c.4255T>C (p.Ser1419Pro)
c.3805T>C (p.Ser1269Pro)
c.2107T>C (p.Ser703Pro)
c.1924T>C (p.Ser642Pro)
c.4156T>C (p.Ser1386Pro)
c.4108T>C (p.Ser1370Pro)
c.3877T>C (p.Ser1293Pro)
c.3778T>C (p.Ser1260Pro)
c.2959T>C (p.Ser987Pro)
n.4510T>C
13g.51934863A>TCA388019179ATP7Bc.*1941T>A (n.*1941T>A)
c.*3035T>A (n.*3035T>A)
c.3670T>A (p.Ser1224Thr)
c.4291T>A (p.Ser1431Thr)
c.3958T>A (p.Ser1320Thr)
c.4039T>A (p.Ser1347Thr)
n.1614T>A
c.4057T>A (p.Ser1353Thr)
n.4430T>A
n.1157T>A
c.3226T>A (p.Ser1076Thr)
c.3001T>A (p.Ser1001Thr)
c.4096T>A (p.Ser1366Thr)
c.2069T>A
c.*1392T>A (n.*1392T>A)
n.5035T>A
n.3636T>A
c.4147T>A (p.Ser1383Thr)
c.4195T>A (p.Ser1399Thr)
c.4255T>A (p.Ser1419Thr)
c.3805T>A (p.Ser1269Thr)
c.2107T>A (p.Ser703Thr)
c.1924T>A (p.Ser642Thr)
c.4156T>A (p.Ser1386Thr)
c.4108T>A (p.Ser1370Thr)
c.3877T>A (p.Ser1293Thr)
c.3778T>A (p.Ser1260Thr)
c.2959T>A (p.Ser987Thr)
n.4510T>A
13g.51934863_51934864delinsACCA2091550297ATP7Bc.*1940_*1941delinsGT (n.*1940_*1941delinsGT)
c.*3034_*3035delinsGT (n.*3034_*3035delinsGT)
c.3669_3670delinsGT (p.Leu1223=)
c.4290_4291delinsGT (p.Leu1430=)
c.3957_3958delinsGT (p.Leu1319=)
c.4038_4039delinsGT (p.Leu1346=)
n.1613_1614delinsGT
c.4056_4057delinsGT (p.Leu1352=)
n.4429_4430delinsGT
n.1156_1157delinsGT
c.3225_3226delinsGT (p.Leu1075=)
c.3000_3001delinsGT (p.Leu1000=)
c.4095_4096delinsGT (p.Leu1365=)
c.2068_2069delinsGT
c.*1391_*1392delinsGT (n.*1391_*1392delinsGT)
n.5034_5035delinsGT
n.3635_3636delinsGT
c.4146_4147delinsGT (p.Leu1382=)
c.4194_4195delinsGT (p.Leu1398=)
c.4254_4255delinsGT (p.Leu1418=)
c.3804_3805delinsGT (p.Leu1268=)
c.2106_2107delinsGT (p.Leu702=)
c.1923_1924delinsGT (p.Leu641=)
c.4155_4156delinsGT (p.Leu1385=)
c.4107_4108delinsGT (p.Leu1369=)
c.3876_3877delinsGT (p.Leu1292=)
c.3777_3778delinsGT (p.Leu1259=)
c.2958_2959delinsGT (p.Leu986=)
n.4509_4510delinsGT
13g.51934864delCA645509352ATP7Bc.*1940del (n.*1940del)
c.*3034del (n.*3034del)
c.3669del (p.Ser1224ProfsTer3)
c.4290del (p.Ser1431ProfsTer3)
c.3957del (p.Ser1320ProfsTer3)
c.4038del (p.Ser1347ProfsTer3)
n.1613del
c.4056del (p.Ser1353ProfsTer3)
n.4429del
n.1156del
c.3225del (p.Ser1076ProfsTer3)
c.3000del (p.Ser1001ProfsTer3)
c.4095del (p.Ser1366ProfsTer3)
c.2068del
c.*1391del (n.*1391del)
n.5034del
n.3635del
c.4146del (p.Ser1383ProfsTer3)
c.4194del (p.Ser1399ProfsTer3)
c.4254del (p.Ser1419ProfsTer3)
c.3804del (p.Ser1269ProfsTer3)
c.2106del (p.Ser703ProfsTer3)
c.1923del (p.Ser642ProfsTer3)
c.4155del (p.Ser1386ProfsTer3)
c.4107del (p.Ser1370ProfsTer3)
c.3876del (p.Ser1293ProfsTer3)
c.3777del (p.Ser1260ProfsTer3)
c.2958del (p.Ser987ProfsTer3)
n.4509del
 ClinVar dbSNP
13g.51934864C>ACA484024144ATP7Bc.*1940G>T (n.*1940G>T)
c.*3034G>T (n.*3034G>T)
c.3669G>T (p.Leu1223=)
c.4290G>T (p.Leu1430=)
c.3957G>T (p.Leu1319=)
c.4038G>T (p.Leu1346=)
n.1613G>T
c.4056G>T (p.Leu1352=)
n.4429G>T
n.1156G>T
c.3225G>T (p.Leu1075=)
c.3000G>T (p.Leu1000=)
c.4095G>T (p.Leu1365=)
c.2068G>T
c.*1391G>T (n.*1391G>T)
n.5034G>T
n.3635G>T
c.4146G>T (p.Leu1382=)
c.4194G>T (p.Leu1398=)
c.4254G>T (p.Leu1418=)
c.3804G>T (p.Leu1268=)
c.2106G>T (p.Leu702=)
c.1923G>T (p.Leu641=)
c.4155G>T (p.Leu1385=)
c.4107G>T (p.Leu1369=)
c.3876G>T (p.Leu1292=)
c.3777G>T (p.Leu1259=)
c.2958G>T (p.Leu986=)
n.4509G>T
13g.51934864C=CA2091550301ATP7Bc.*1940G= (n.*1940G=)
c.*3034G= (n.*3034G=)
c.3669G= (p.Leu1223=)
c.4290G= (p.Leu1430=)
c.3957G= (p.Leu1319=)
c.4038G= (p.Leu1346=)
n.1613G=
c.4056G= (p.Leu1352=)
n.4429G=
n.1156G=
c.3225G= (p.Leu1075=)
c.3000G= (p.Leu1000=)
c.4095G= (p.Leu1365=)
c.2068G=
c.*1391G= (n.*1391G=)
n.5034G=
n.3635G=
c.4146G= (p.Leu1382=)
c.4194G= (p.Leu1398=)
c.4254G= (p.Leu1418=)
c.3804G= (p.Leu1268=)
c.2106G= (p.Leu702=)
c.1923G= (p.Leu641=)
c.4155G= (p.Leu1385=)
c.4107G= (p.Leu1369=)
c.3876G= (p.Leu1292=)
c.3777G= (p.Leu1259=)
c.2958G= (p.Leu986=)
n.4509G=
13g.51934864C>GCA484024145ATP7Bc.*1940G>C (n.*1940G>C)
c.*3034G>C (n.*3034G>C)
c.3669G>C (p.Leu1223=)
c.4290G>C (p.Leu1430=)
c.3957G>C (p.Leu1319=)
c.4038G>C (p.Leu1346=)
n.1613G>C
c.4056G>C (p.Leu1352=)
n.4429G>C
n.1156G>C
c.3225G>C (p.Leu1075=)
c.3000G>C (p.Leu1000=)
c.4095G>C (p.Leu1365=)
c.2068G>C
c.*1391G>C (n.*1391G>C)
n.5034G>C
n.3635G>C
c.4146G>C (p.Leu1382=)
c.4194G>C (p.Leu1398=)
c.4254G>C (p.Leu1418=)
c.3804G>C (p.Leu1268=)
c.2106G>C (p.Leu702=)
c.1923G>C (p.Leu641=)
c.4155G>C (p.Leu1385=)
c.4107G>C (p.Leu1369=)
c.3876G>C (p.Leu1292=)
c.3777G>C (p.Leu1259=)
c.2958G>C (p.Leu986=)
n.4509G>C
 ClinVar
13g.51934864C>TCA484024146ATP7Bc.*1940G>A (n.*1940G>A)
c.*3034G>A (n.*3034G>A)
c.3669G>A (p.Leu1223=)
c.4290G>A (p.Leu1430=)
c.3957G>A (p.Leu1319=)
c.4038G>A (p.Leu1346=)
n.1613G>A
c.4056G>A (p.Leu1352=)
n.4429G>A
n.1156G>A
c.3225G>A (p.Leu1075=)
c.3000G>A (p.Leu1000=)
c.4095G>A (p.Leu1365=)
c.2068G>A
c.*1391G>A (n.*1391G>A)
n.5034G>A
n.3635G>A
c.4146G>A (p.Leu1382=)
c.4194G>A (p.Leu1398=)
c.4254G>A (p.Leu1418=)
c.3804G>A (p.Leu1268=)
c.2106G>A (p.Leu702=)
c.1923G>A (p.Leu641=)
c.4155G>A (p.Leu1385=)
c.4107G>A (p.Leu1369=)
c.3876G>A (p.Leu1292=)
c.3777G>A (p.Leu1259=)
c.2958G>A (p.Leu986=)
n.4509G>A
 ClinVar dbSNP gnomAD v4
13g.51934865A>CCA388019185ATP7Bc.*1939T>G (n.*1939T>G)
c.*3033T>G (n.*3033T>G)
c.3668T>G (p.Leu1223Arg)
c.4289T>G (p.Leu1430Arg)
c.3956T>G (p.Leu1319Arg)
c.4037T>G (p.Leu1346Arg)
n.1612T>G
c.4055T>G (p.Leu1352Arg)
n.4428T>G
n.1155T>G
c.3224T>G (p.Leu1075Arg)
c.2999T>G (p.Leu1000Arg)
c.4094T>G (p.Leu1365Arg)
c.2067T>G
c.*1390T>G (n.*1390T>G)
n.5033T>G
n.3634T>G
c.4145T>G (p.Leu1382Arg)
c.4193T>G (p.Leu1398Arg)
c.4253T>G (p.Leu1418Arg)
c.3803T>G (p.Leu1268Arg)
c.2105T>G (p.Leu702Arg)
c.1922T>G (p.Leu641Arg)
c.4154T>G (p.Leu1385Arg)
c.4106T>G (p.Leu1369Arg)
c.3875T>G (p.Leu1292Arg)
c.3776T>G (p.Leu1259Arg)
c.2957T>G (p.Leu986Arg)
n.4508T>G
13g.51934865A>GCA388019183ATP7Bc.*1939T>C (n.*1939T>C)
c.*3033T>C (n.*3033T>C)
c.3668T>C (p.Leu1223Pro)
c.4289T>C (p.Leu1430Pro)
c.3956T>C (p.Leu1319Pro)
c.4037T>C (p.Leu1346Pro)
n.1612T>C
c.4055T>C (p.Leu1352Pro)
n.4428T>C
n.1155T>C
c.3224T>C (p.Leu1075Pro)
c.2999T>C (p.Leu1000Pro)
c.4094T>C (p.Leu1365Pro)
c.2067T>C
c.*1390T>C (n.*1390T>C)
n.5033T>C
n.3634T>C
c.4145T>C (p.Leu1382Pro)
c.4193T>C (p.Leu1398Pro)
c.4253T>C (p.Leu1418Pro)
c.3803T>C (p.Leu1268Pro)
c.2105T>C (p.Leu702Pro)
c.1922T>C (p.Leu641Pro)
c.4154T>C (p.Leu1385Pro)
c.4106T>C (p.Leu1369Pro)
c.3875T>C (p.Leu1292Pro)
c.3776T>C (p.Leu1259Pro)
c.2957T>C (p.Leu986Pro)
n.4508T>C
 gnomAD v4
13g.51934865A>TCA388019182ATP7Bc.*1939T>A (n.*1939T>A)
c.*3033T>A (n.*3033T>A)
c.3668T>A (p.Leu1223Gln)
c.4289T>A (p.Leu1430Gln)
c.3956T>A (p.Leu1319Gln)
c.4037T>A (p.Leu1346Gln)
n.1612T>A
c.4055T>A (p.Leu1352Gln)
n.4428T>A
n.1155T>A
c.3224T>A (p.Leu1075Gln)
c.2999T>A (p.Leu1000Gln)
c.4094T>A (p.Leu1365Gln)
c.2067T>A
c.*1390T>A (n.*1390T>A)
n.5033T>A
n.3634T>A
c.4145T>A (p.Leu1382Gln)
c.4193T>A (p.Leu1398Gln)
c.4253T>A (p.Leu1418Gln)
c.3803T>A (p.Leu1268Gln)
c.2105T>A (p.Leu702Gln)
c.1922T>A (p.Leu641Gln)
c.4154T>A (p.Leu1385Gln)
c.4106T>A (p.Leu1369Gln)
c.3875T>A (p.Leu1292Gln)
c.3776T>A (p.Leu1259Gln)
c.2957T>A (p.Leu986Gln)
n.4508T>A
13g.51934866G>ACA484024148ATP7Bc.*1938C>T (n.*1938C>T)
c.*3032C>T (n.*3032C>T)
c.3667C>T (p.Leu1223=)
c.4288C>T (p.Leu1430=)
c.3955C>T (p.Leu1319=)
c.4036C>T (p.Leu1346=)
n.1611C>T
c.4054C>T (p.Leu1352=)
n.4427C>T
n.1154C>T
c.3223C>T (p.Leu1075=)
c.2998C>T (p.Leu1000=)
c.4093C>T (p.Leu1365=)
c.2066C>T
c.*1389C>T (n.*1389C>T)
n.5032C>T
n.3633C>T
c.4144C>T (p.Leu1382=)
c.4192C>T (p.Leu1398=)
c.4252C>T (p.Leu1418=)
c.3802C>T (p.Leu1268=)
c.2104C>T (p.Leu702=)
c.1921C>T (p.Leu641=)
c.4153C>T (p.Leu1385=)
c.4105C>T (p.Leu1369=)
c.3874C>T (p.Leu1292=)
c.3775C>T (p.Leu1259=)
c.2956C>T (p.Leu986=)
n.4507C>T
13g.51934866G>CCA388019188ATP7Bc.*1938C>G (n.*1938C>G)
c.*3032C>G (n.*3032C>G)
c.3667C>G (p.Leu1223Val)
c.4288C>G (p.Leu1430Val)
c.3955C>G (p.Leu1319Val)
c.4036C>G (p.Leu1346Val)
n.1611C>G
c.4054C>G (p.Leu1352Val)
n.4427C>G
n.1154C>G
c.3223C>G (p.Leu1075Val)
c.2998C>G (p.Leu1000Val)
c.4093C>G (p.Leu1365Val)
c.2066C>G
c.*1389C>G (n.*1389C>G)
n.5032C>G
n.3633C>G
c.4144C>G (p.Leu1382Val)
c.4192C>G (p.Leu1398Val)
c.4252C>G (p.Leu1418Val)
c.3802C>G (p.Leu1268Val)
c.2104C>G (p.Leu702Val)
c.1921C>G (p.Leu641Val)
c.4153C>G (p.Leu1385Val)
c.4105C>G (p.Leu1369Val)
c.3874C>G (p.Leu1292Val)
c.3775C>G (p.Leu1259Val)
c.2956C>G (p.Leu986Val)
n.4507C>G
13g.51934866G=CA2091550306ATP7Bc.*1938C= (n.*1938C=)
c.*3032C= (n.*3032C=)
c.3667C= (p.Leu1223=)
c.4288C= (p.Leu1430=)
c.3955C= (p.Leu1319=)
c.4036C= (p.Leu1346=)
n.1611C=
c.4054C= (p.Leu1352=)
n.4427C=
n.1154C=
c.3223C= (p.Leu1075=)
c.2998C= (p.Leu1000=)
c.4093C= (p.Leu1365=)
c.2066C=
c.*1389C= (n.*1389C=)
n.5032C=
n.3633C=
c.4144C= (p.Leu1382=)
c.4192C= (p.Leu1398=)
c.4252C= (p.Leu1418=)
c.3802C= (p.Leu1268=)
c.2104C= (p.Leu702=)
c.1921C= (p.Leu641=)
c.4153C= (p.Leu1385=)
c.4105C= (p.Leu1369=)
c.3874C= (p.Leu1292=)
c.3775C= (p.Leu1259=)
c.2956C= (p.Leu986=)
n.4507C=
13g.51934866G>TCA250071533ATP7Bc.*1938C>A (n.*1938C>A)
c.*3032C>A (n.*3032C>A)
c.3667C>A (p.Leu1223Met)
c.4288C>A (p.Leu1430Met)
c.3955C>A (p.Leu1319Met)
c.4036C>A (p.Leu1346Met)
n.1611C>A
c.4054C>A (p.Leu1352Met)
n.4427C>A
n.1154C>A
c.3223C>A (p.Leu1075Met)
c.2998C>A (p.Leu1000Met)
c.4093C>A (p.Leu1365Met)
c.2066C>A
c.*1389C>A (n.*1389C>A)
n.5032C>A
n.3633C>A
c.4144C>A (p.Leu1382Met)
c.4192C>A (p.Leu1398Met)
c.4252C>A (p.Leu1418Met)
c.3802C>A (p.Leu1268Met)
c.2104C>A (p.Leu702Met)
c.1921C>A (p.Leu641Met)
c.4153C>A (p.Leu1385Met)
c.4105C>A (p.Leu1369Met)
c.3874C>A (p.Leu1292Met)
c.3775C>A (p.Leu1259Met)
c.2956C>A (p.Leu986Met)
n.4507C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934867C>ACA484024149ATP7Bc.*1937G>T (n.*1937G>T)
c.*3031G>T (n.*3031G>T)
c.3666G>T (p.Ser1222=)
c.4287G>T (p.Ser1429=)
c.3954G>T (p.Ser1318=)
c.4035G>T (p.Ser1345=)
n.1610G>T
c.4053G>T (p.Ser1351=)
n.4426G>T
n.1153G>T
c.3222G>T (p.Ser1074=)
c.2997G>T (p.Ser999=)
c.4092G>T (p.Ser1364=)
c.2065G>T
c.*1388G>T (n.*1388G>T)
n.5031G>T
n.3632G>T
c.4143G>T (p.Ser1381=)
c.4191G>T (p.Ser1397=)
c.4251G>T (p.Ser1417=)
c.3801G>T (p.Ser1267=)
c.2103G>T (p.Ser701=)
c.1920G>T (p.Ser640=)
c.4152G>T (p.Ser1384=)
c.4104G>T (p.Ser1368=)
c.3873G>T (p.Ser1291=)
c.3774G>T (p.Ser1258=)
c.2955G>T (p.Ser985=)
n.4506G>T
13g.51934867C=CA2091550310ATP7Bc.*1937G= (n.*1937G=)
c.*3031G= (n.*3031G=)
c.3666G= (p.Ser1222=)
c.4287G= (p.Ser1429=)
c.3954G= (p.Ser1318=)
c.4035G= (p.Ser1345=)
n.1610G=
c.4053G= (p.Ser1351=)
n.4426G=
n.1153G=
c.3222G= (p.Ser1074=)
c.2997G= (p.Ser999=)
c.4092G= (p.Ser1364=)
c.2065G=
c.*1388G= (n.*1388G=)
n.5031G=
n.3632G=
c.4143G= (p.Ser1381=)
c.4191G= (p.Ser1397=)
c.4251G= (p.Ser1417=)
c.3801G= (p.Ser1267=)
c.2103G= (p.Ser701=)
c.1920G= (p.Ser640=)
c.4152G= (p.Ser1384=)
c.4104G= (p.Ser1368=)
c.3873G= (p.Ser1291=)
c.3774G= (p.Ser1258=)
c.2955G= (p.Ser985=)
n.4506G=
13g.51934867C>GCA484024150ATP7Bc.*1937G>C (n.*1937G>C)
c.*3031G>C (n.*3031G>C)
c.3666G>C (p.Ser1222=)
c.4287G>C (p.Ser1429=)
c.3954G>C (p.Ser1318=)
c.4035G>C (p.Ser1345=)
n.1610G>C
c.4053G>C (p.Ser1351=)
n.4426G>C
n.1153G>C
c.3222G>C (p.Ser1074=)
c.2997G>C (p.Ser999=)
c.4092G>C (p.Ser1364=)
c.2065G>C
c.*1388G>C (n.*1388G>C)
n.5031G>C
n.3632G>C
c.4143G>C (p.Ser1381=)
c.4191G>C (p.Ser1397=)
c.4251G>C (p.Ser1417=)
c.3801G>C (p.Ser1267=)
c.2103G>C (p.Ser701=)
c.1920G>C (p.Ser640=)
c.4152G>C (p.Ser1384=)
c.4104G>C (p.Ser1368=)
c.3873G>C (p.Ser1291=)
c.3774G>C (p.Ser1258=)
c.2955G>C (p.Ser985=)
n.4506G>C
 ClinVar dbSNP
13g.51934867C>TCA250071538ATP7Bc.*1937G>A (n.*1937G>A)
c.*3031G>A (n.*3031G>A)
c.3666G>A (p.Ser1222=)
c.4287G>A (p.Ser1429=)
c.3954G>A (p.Ser1318=)
c.4035G>A (p.Ser1345=)
n.1610G>A
c.4053G>A (p.Ser1351=)
n.4426G>A
n.1153G>A
c.3222G>A (p.Ser1074=)
c.2997G>A (p.Ser999=)
c.4092G>A (p.Ser1364=)
c.2065G>A
c.*1388G>A (n.*1388G>A)
n.5031G>A
n.3632G>A
c.4143G>A (p.Ser1381=)
c.4191G>A (p.Ser1397=)
c.4251G>A (p.Ser1417=)
c.3801G>A (p.Ser1267=)
c.2103G>A (p.Ser701=)
c.1920G>A (p.Ser640=)
c.4152G>A (p.Ser1384=)
c.4104G>A (p.Ser1368=)
c.3873G>A (p.Ser1291=)
c.3774G>A (p.Ser1258=)
c.2955G>A (p.Ser985=)
n.4506G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934868G>ACA388019190ATP7Bc.*1936C>T (n.*1936C>T)
c.*3030C>T (n.*3030C>T)
c.3665C>T (p.Ser1222Leu)
c.4286C>T (p.Ser1429Leu)
c.3953C>T (p.Ser1318Leu)
c.4034C>T (p.Ser1345Leu)
n.1609C>T
c.4052C>T (p.Ser1351Leu)
n.4425C>T
n.1152C>T
c.3221C>T (p.Ser1074Leu)
c.2996C>T (p.Ser999Leu)
c.4091C>T (p.Ser1364Leu)
c.2064C>T
c.*1387C>T (n.*1387C>T)
n.5030C>T
n.3631C>T
c.4142C>T (p.Ser1381Leu)
c.4190C>T (p.Ser1397Leu)
c.4250C>T (p.Ser1417Leu)
c.3800C>T (p.Ser1267Leu)
c.2102C>T (p.Ser701Leu)
c.1919C>T (p.Ser640Leu)
c.4151C>T (p.Ser1384Leu)
c.4103C>T (p.Ser1368Leu)
c.3872C>T (p.Ser1291Leu)
c.3773C>T (p.Ser1258Leu)
c.2954C>T (p.Ser985Leu)
n.4505C>T
 ClinVar dbSNP gnomAD v4
13g.51934868G>CCA388019191ATP7Bc.*1936C>G (n.*1936C>G)
c.*3030C>G (n.*3030C>G)
c.3665C>G (p.Ser1222Trp)
c.4286C>G (p.Ser1429Trp)
c.3953C>G (p.Ser1318Trp)
c.4034C>G (p.Ser1345Trp)
n.1609C>G
c.4052C>G (p.Ser1351Trp)
n.4425C>G
n.1152C>G
c.3221C>G (p.Ser1074Trp)
c.2996C>G (p.Ser999Trp)
c.4091C>G (p.Ser1364Trp)
c.2064C>G
c.*1387C>G (n.*1387C>G)
n.5030C>G
n.3631C>G
c.4142C>G (p.Ser1381Trp)
c.4190C>G (p.Ser1397Trp)
c.4250C>G (p.Ser1417Trp)
c.3800C>G (p.Ser1267Trp)
c.2102C>G (p.Ser701Trp)
c.1919C>G (p.Ser640Trp)
c.4151C>G (p.Ser1384Trp)
c.4103C>G (p.Ser1368Trp)
c.3872C>G (p.Ser1291Trp)
c.3773C>G (p.Ser1258Trp)
c.2954C>G (p.Ser985Trp)
n.4505C>G
13g.51934868G=CA2091550316ATP7Bc.*1936C= (n.*1936C=)
c.*3030C= (n.*3030C=)
c.3665C= (p.Ser1222=)
c.4286C= (p.Ser1429=)
c.3953C= (p.Ser1318=)
c.4034C= (p.Ser1345=)
n.1609C=
c.4052C= (p.Ser1351=)
n.4425C=
n.1152C=
c.3221C= (p.Ser1074=)
c.2996C= (p.Ser999=)
c.4091C= (p.Ser1364=)
c.2064C=
c.*1387C= (n.*1387C=)
n.5030C=
n.3631C=
c.4142C= (p.Ser1381=)
c.4190C= (p.Ser1397=)
c.4250C= (p.Ser1417=)
c.3800C= (p.Ser1267=)
c.2102C= (p.Ser701=)
c.1919C= (p.Ser640=)
c.4151C= (p.Ser1384=)
c.4103C= (p.Ser1368=)
c.3872C= (p.Ser1291=)
c.3773C= (p.Ser1258=)
c.2954C= (p.Ser985=)
n.4505C=
13g.51934868G>TCA388019192ATP7Bc.*1936C>A (n.*1936C>A)
c.*3030C>A (n.*3030C>A)
c.3665C>A (p.Ser1222Ter)
c.4286C>A (p.Ser1429Ter)
c.3953C>A (p.Ser1318Ter)
c.4034C>A (p.Ser1345Ter)
n.1609C>A
c.4052C>A (p.Ser1351Ter)
n.4425C>A
n.1152C>A
c.3221C>A (p.Ser1074Ter)
c.2996C>A (p.Ser999Ter)
c.4091C>A (p.Ser1364Ter)
c.2064C>A
c.*1387C>A (n.*1387C>A)
n.5030C>A
n.3631C>A
c.4142C>A (p.Ser1381Ter)
c.4190C>A (p.Ser1397Ter)
c.4250C>A (p.Ser1417Ter)
c.3800C>A (p.Ser1267Ter)
c.2102C>A (p.Ser701Ter)
c.1919C>A (p.Ser640Ter)
c.4151C>A (p.Ser1384Ter)
c.4103C>A (p.Ser1368Ter)
c.3872C>A (p.Ser1291Ter)
c.3773C>A (p.Ser1258Ter)
c.2954C>A (p.Ser985Ter)
n.4505C>A
13g.51934869A=CA2091550318ATP7Bc.*1935T= (n.*1935T=)
c.*3029T= (n.*3029T=)
c.3664T= (p.Ser1222=)
c.4285T= (p.Ser1429=)
c.3952T= (p.Ser1318=)
c.4033T= (p.Ser1345=)
n.1608T=
c.4051T= (p.Ser1351=)
n.4424T=
n.1151T=
c.3220T= (p.Ser1074=)
c.2995T= (p.Ser999=)
c.4090T= (p.Ser1364=)
c.2063T=
c.*1386T= (n.*1386T=)
n.5029T=
n.3630T=
c.4141T= (p.Ser1381=)
c.4189T= (p.Ser1397=)
c.4249T= (p.Ser1417=)
c.3799T= (p.Ser1267=)
c.2101T= (p.Ser701=)
c.1918T= (p.Ser640=)
c.4150T= (p.Ser1384=)
c.4102T= (p.Ser1368=)
c.3871T= (p.Ser1291=)
c.3772T= (p.Ser1258=)
c.2953T= (p.Ser985=)
n.4504T=
13g.51934869A>CCA388019193ATP7Bc.*1935T>G (n.*1935T>G)
c.*3029T>G (n.*3029T>G)
c.3664T>G (p.Ser1222Ala)
c.4285T>G (p.Ser1429Ala)
c.3952T>G (p.Ser1318Ala)
c.4033T>G (p.Ser1345Ala)
n.1608T>G
c.4051T>G (p.Ser1351Ala)
n.4424T>G
n.1151T>G
c.3220T>G (p.Ser1074Ala)
c.2995T>G (p.Ser999Ala)
c.4090T>G (p.Ser1364Ala)
c.2063T>G
c.*1386T>G (n.*1386T>G)
n.5029T>G
n.3630T>G
c.4141T>G (p.Ser1381Ala)
c.4189T>G (p.Ser1397Ala)
c.4249T>G (p.Ser1417Ala)
c.3799T>G (p.Ser1267Ala)
c.2101T>G (p.Ser701Ala)
c.1918T>G (p.Ser640Ala)
c.4150T>G (p.Ser1384Ala)
c.4102T>G (p.Ser1368Ala)
c.3871T>G (p.Ser1291Ala)
c.3772T>G (p.Ser1258Ala)
c.2953T>G (p.Ser985Ala)
n.4504T>G
13g.51934869A>GCA388019195ATP7Bc.*1935T>C (n.*1935T>C)
c.*3029T>C (n.*3029T>C)
c.3664T>C (p.Ser1222Pro)
c.4285T>C (p.Ser1429Pro)
c.3952T>C (p.Ser1318Pro)
c.4033T>C (p.Ser1345Pro)
n.1608T>C
c.4051T>C (p.Ser1351Pro)
n.4424T>C
n.1151T>C
c.3220T>C (p.Ser1074Pro)
c.2995T>C (p.Ser999Pro)
c.4090T>C (p.Ser1364Pro)
c.2063T>C
c.*1386T>C (n.*1386T>C)
n.5029T>C
n.3630T>C
c.4141T>C (p.Ser1381Pro)
c.4189T>C (p.Ser1397Pro)
c.4249T>C (p.Ser1417Pro)
c.3799T>C (p.Ser1267Pro)
c.2101T>C (p.Ser701Pro)
c.1918T>C (p.Ser640Pro)
c.4150T>C (p.Ser1384Pro)
c.4102T>C (p.Ser1368Pro)
c.3871T>C (p.Ser1291Pro)
c.3772T>C (p.Ser1258Pro)
c.2953T>C (p.Ser985Pro)
n.4504T>C
13g.51934869A>TCA6988434ATP7Bc.*1935T>A (n.*1935T>A)
c.*3029T>A (n.*3029T>A)
c.3664T>A (p.Ser1222Thr)
c.4285T>A (p.Ser1429Thr)
c.3952T>A (p.Ser1318Thr)
c.4033T>A (p.Ser1345Thr)
n.1608T>A
c.4051T>A (p.Ser1351Thr)
n.4424T>A
n.1151T>A
c.3220T>A (p.Ser1074Thr)
c.2995T>A (p.Ser999Thr)
c.4090T>A (p.Ser1364Thr)
c.2063T>A
c.*1386T>A (n.*1386T>A)
n.5029T>A
n.3630T>A
c.4141T>A (p.Ser1381Thr)
c.4189T>A (p.Ser1397Thr)
c.4249T>A (p.Ser1417Thr)
c.3799T>A (p.Ser1267Thr)
c.2101T>A (p.Ser701Thr)
c.1918T>A (p.Ser640Thr)
c.4150T>A (p.Ser1384Thr)
c.4102T>A (p.Ser1368Thr)
c.3871T>A (p.Ser1291Thr)
c.3772T>A (p.Ser1258Thr)
c.2953T>A (p.Ser985Thr)
n.4504T>A
 dbSNP ExAC
13g.51934869_51934872delinsTTATCA2499222494ATP7Bc.*1932_*1935delinsATAA (n.*1932_*1935delinsATAA)
c.*3026_*3029delinsATAA (n.*3026_*3029delinsATAA)
c.3661_3664delinsATAA (p.Val1221_Ser1222delinsIleThr)
c.4282_4285delinsATAA (p.Val1428_Ser1429delinsIleThr)
c.3949_3952delinsATAA (p.Val1317_Ser1318delinsIleThr)
c.4030_4033delinsATAA (p.Val1344_Ser1345delinsIleThr)
n.1605_1608delinsATAA
c.4048_4051delinsATAA (p.Val1350_Ser1351delinsIleThr)
n.4421_4424delinsATAA
n.1148_1151delinsATAA
c.3217_3220delinsATAA (p.Val1073_Ser1074delinsIleThr)
c.2992_2995delinsATAA (p.Val998_Ser999delinsIleThr)
c.4087_4090delinsATAA (p.Val1363_Ser1364delinsIleThr)
c.2060_2063delinsATAA
c.*1383_*1386delinsATAA (n.*1383_*1386delinsATAA)
n.5026_5029delinsATAA
n.3627_3630delinsATAA
c.4138_4141delinsATAA (p.Val1380_Ser1381delinsIleThr)
c.4186_4189delinsATAA (p.Val1396_Ser1397delinsIleThr)
c.4246_4249delinsATAA (p.Val1416_Ser1417delinsIleThr)
c.3796_3799delinsATAA (p.Val1266_Ser1267delinsIleThr)
c.2098_2101delinsATAA (p.Val700_Ser701delinsIleThr)
c.1915_1918delinsATAA (p.Val639_Ser640delinsIleThr)
c.4147_4150delinsATAA (p.Val1383_Ser1384delinsIleThr)
c.4099_4102delinsATAA (p.Val1367_Ser1368delinsIleThr)
c.3868_3871delinsATAA (p.Val1290_Ser1291delinsIleThr)
c.3769_3772delinsATAA (p.Val1257_Ser1258delinsIleThr)
c.2950_2953delinsATAA (p.Val984_Ser985delinsIleThr)
n.4501_4504delinsATAA
 ClinVar dbSNP
13g.51934870C>ACA484024151ATP7Bc.*1934G>T (n.*1934G>T)
c.*3028G>T (n.*3028G>T)
c.3663G>T (p.Val1221=)
c.4284G>T (p.Val1428=)
c.3951G>T (p.Val1317=)
c.4032G>T (p.Val1344=)
n.1607G>T
c.4050G>T (p.Val1350=)
n.4423G>T
n.1150G>T
c.3219G>T (p.Val1073=)
c.2994G>T (p.Val998=)
c.4089G>T (p.Val1363=)
c.2062G>T
c.*1385G>T (n.*1385G>T)
n.5028G>T
n.3629G>T
c.4140G>T (p.Val1380=)
c.4188G>T (p.Val1396=)
c.4248G>T (p.Val1416=)
c.3798G>T (p.Val1266=)
c.2100G>T (p.Val700=)
c.1917G>T (p.Val639=)
c.4149G>T (p.Val1383=)
c.4101G>T (p.Val1367=)
c.3870G>T (p.Val1290=)
c.3771G>T (p.Val1257=)
c.2952G>T (p.Val984=)
n.4503G>T
13g.51934870C=CA2091550322ATP7Bc.*1934G= (n.*1934G=)
c.*3028G= (n.*3028G=)
c.3663G= (p.Val1221=)
c.4284G= (p.Val1428=)
c.3951G= (p.Val1317=)
c.4032G= (p.Val1344=)
n.1607G=
c.4050G= (p.Val1350=)
n.4423G=
n.1150G=
c.3219G= (p.Val1073=)
c.2994G= (p.Val998=)
c.4089G= (p.Val1363=)
c.2062G=
c.*1385G= (n.*1385G=)
n.5028G=
n.3629G=
c.4140G= (p.Val1380=)
c.4188G= (p.Val1396=)
c.4248G= (p.Val1416=)
c.3798G= (p.Val1266=)
c.2100G= (p.Val700=)
c.1917G= (p.Val639=)
c.4149G= (p.Val1383=)
c.4101G= (p.Val1367=)
c.3870G= (p.Val1290=)
c.3771G= (p.Val1257=)
c.2952G= (p.Val984=)
n.4503G=
13g.51934870C>GCA484024152ATP7Bc.*1934G>C (n.*1934G>C)
c.*3028G>C (n.*3028G>C)
c.3663G>C (p.Val1221=)
c.4284G>C (p.Val1428=)
c.3951G>C (p.Val1317=)
c.4032G>C (p.Val1344=)
n.1607G>C
c.4050G>C (p.Val1350=)
n.4423G>C
n.1150G>C
c.3219G>C (p.Val1073=)
c.2994G>C (p.Val998=)
c.4089G>C (p.Val1363=)
c.2062G>C
c.*1385G>C (n.*1385G>C)
n.5028G>C
n.3629G>C
c.4140G>C (p.Val1380=)
c.4188G>C (p.Val1396=)
c.4248G>C (p.Val1416=)
c.3798G>C (p.Val1266=)
c.2100G>C (p.Val700=)
c.1917G>C (p.Val639=)
c.4149G>C (p.Val1383=)
c.4101G>C (p.Val1367=)
c.3870G>C (p.Val1290=)
c.3771G>C (p.Val1257=)
c.2952G>C (p.Val984=)
n.4503G>C
13g.51934870C>TCA6988435ATP7Bc.*1934G>A (n.*1934G>A)
c.*3028G>A (n.*3028G>A)
c.3663G>A (p.Val1221=)
c.4284G>A (p.Val1428=)
c.3951G>A (p.Val1317=)
c.4032G>A (p.Val1344=)
n.1607G>A
c.4050G>A (p.Val1350=)
n.4423G>A
n.1150G>A
c.3219G>A (p.Val1073=)
c.2994G>A (p.Val998=)
c.4089G>A (p.Val1363=)
c.2062G>A
c.*1385G>A (n.*1385G>A)
n.5028G>A
n.3629G>A
c.4140G>A (p.Val1380=)
c.4188G>A (p.Val1396=)
c.4248G>A (p.Val1416=)
c.3798G>A (p.Val1266=)
c.2100G>A (p.Val700=)
c.1917G>A (p.Val639=)
c.4149G>A (p.Val1383=)
c.4101G>A (p.Val1367=)
c.3870G>A (p.Val1290=)
c.3771G>A (p.Val1257=)
c.2952G>A (p.Val984=)
n.4503G>A
 ClinVar dbSNP ExAC gnomAD v4
13g.51934870dupCA912974788ATP7Bc.*1934dup (n.*1934dup)
c.*3028dup (n.*3028dup)
c.3663dup (p.Ser1222ValfsTer20)
c.4284dup (p.Ser1429ValfsTer20)
c.3951dup (p.Ser1318ValfsTer20)
c.4032dup (p.Ser1345ValfsTer20)
n.1607dup
c.4050dup (p.Ser1351ValfsTer20)
n.4423dup
n.1150dup
c.3219dup (p.Ser1074ValfsTer20)
c.2994dup (p.Ser999ValfsTer20)
c.4089dup (p.Ser1364ValfsTer20)
c.2062dup
c.*1385dup (n.*1385dup)
n.5028dup
n.3629dup
c.4140dup (p.Ser1381ValfsTer20)
c.4188dup (p.Ser1397ValfsTer20)
c.4248dup (p.Ser1417ValfsTer20)
c.3798dup (p.Ser1267ValfsTer20)
c.2100dup (p.Ser701ValfsTer20)
c.1917dup (p.Ser640ValfsTer20)
c.4149dup (p.Ser1384ValfsTer20)
c.4101dup (p.Ser1368ValfsTer20)
c.3870dup (p.Ser1291ValfsTer20)
c.3771dup (p.Ser1258ValfsTer20)
c.2952dup (p.Ser985ValfsTer20)
n.4503dup
13g.51934871A=CA2091550329ATP7Bc.*1933T= (n.*1933T=)
c.*3027T= (n.*3027T=)
c.3662T= (p.Val1221=)
c.4283T= (p.Val1428=)
c.3950T= (p.Val1317=)
c.4031T= (p.Val1344=)
n.1606T=
c.4049T= (p.Val1350=)
n.4422T=
n.1149T=
c.3218T= (p.Val1073=)
c.2993T= (p.Val998=)
c.4088T= (p.Val1363=)
c.2061T=
c.*1384T= (n.*1384T=)
n.5027T=
n.3628T=
c.4139T= (p.Val1380=)
c.4187T= (p.Val1396=)
c.4247T= (p.Val1416=)
c.3797T= (p.Val1266=)
c.2099T= (p.Val700=)
c.1916T= (p.Val639=)
c.4148T= (p.Val1383=)
c.4100T= (p.Val1367=)
c.3869T= (p.Val1290=)
c.3770T= (p.Val1257=)
c.2951T= (p.Val984=)
n.4502T=
13g.51934871A>CCA388019200ATP7Bc.*1933T>G (n.*1933T>G)
c.*3027T>G (n.*3027T>G)
c.3662T>G (p.Val1221Gly)
c.4283T>G (p.Val1428Gly)
c.3950T>G (p.Val1317Gly)
c.4031T>G (p.Val1344Gly)
n.1606T>G
c.4049T>G (p.Val1350Gly)
n.4422T>G
n.1149T>G
c.3218T>G (p.Val1073Gly)
c.2993T>G (p.Val998Gly)
c.4088T>G (p.Val1363Gly)
c.2061T>G
c.*1384T>G (n.*1384T>G)
n.5027T>G
n.3628T>G
c.4139T>G (p.Val1380Gly)
c.4187T>G (p.Val1396Gly)
c.4247T>G (p.Val1416Gly)
c.3797T>G (p.Val1266Gly)
c.2099T>G (p.Val700Gly)
c.1916T>G (p.Val639Gly)
c.4148T>G (p.Val1383Gly)
c.4100T>G (p.Val1367Gly)
c.3869T>G (p.Val1290Gly)
c.3770T>G (p.Val1257Gly)
c.2951T>G (p.Val984Gly)
n.4502T>G
13g.51934871A>GCA388019203ATP7Bc.*1933T>C (n.*1933T>C)
c.*3027T>C (n.*3027T>C)
c.3662T>C (p.Val1221Ala)
c.4283T>C (p.Val1428Ala)
c.3950T>C (p.Val1317Ala)
c.4031T>C (p.Val1344Ala)
n.1606T>C
c.4049T>C (p.Val1350Ala)
n.4422T>C
n.1149T>C
c.3218T>C (p.Val1073Ala)
c.2993T>C (p.Val998Ala)
c.4088T>C (p.Val1363Ala)
c.2061T>C
c.*1384T>C (n.*1384T>C)
n.5027T>C
n.3628T>C
c.4139T>C (p.Val1380Ala)
c.4187T>C (p.Val1396Ala)
c.4247T>C (p.Val1416Ala)
c.3797T>C (p.Val1266Ala)
c.2099T>C (p.Val700Ala)
c.1916T>C (p.Val639Ala)
c.4148T>C (p.Val1383Ala)
c.4100T>C (p.Val1367Ala)
c.3869T>C (p.Val1290Ala)
c.3770T>C (p.Val1257Ala)
c.2951T>C (p.Val984Ala)
n.4502T>C
 ClinVar dbSNP gnomAD v4
13g.51934871A>TCA388019206ATP7Bc.*1933T>A (n.*1933T>A)
c.*3027T>A (n.*3027T>A)
c.3662T>A (p.Val1221Glu)
c.4283T>A (p.Val1428Glu)
c.3950T>A (p.Val1317Glu)
c.4031T>A (p.Val1344Glu)
n.1606T>A
c.4049T>A (p.Val1350Glu)
n.4422T>A
n.1149T>A
c.3218T>A (p.Val1073Glu)
c.2993T>A (p.Val998Glu)
c.4088T>A (p.Val1363Glu)
c.2061T>A
c.*1384T>A (n.*1384T>A)
n.5027T>A
n.3628T>A
c.4139T>A (p.Val1380Glu)
c.4187T>A (p.Val1396Glu)
c.4247T>A (p.Val1416Glu)
c.3797T>A (p.Val1266Glu)
c.2099T>A (p.Val700Glu)
c.1916T>A (p.Val639Glu)
c.4148T>A (p.Val1383Glu)
c.4100T>A (p.Val1367Glu)
c.3869T>A (p.Val1290Glu)
c.3770T>A (p.Val1257Glu)
c.2951T>A (p.Val984Glu)
n.4502T>A
13g.51934871dupCA658823690ATP7Bc.*1933dup (n.*1933dup)
c.*3027dup (n.*3027dup)
c.3662dup (p.Ser1222ValfsTer20)
c.4283dup (p.Ser1429ValfsTer20)
c.3950dup (p.Ser1318ValfsTer20)
c.4031dup (p.Ser1345ValfsTer20)
n.1606dup
c.4049dup (p.Ser1351ValfsTer20)
n.4422dup
n.1149dup
c.3218dup (p.Ser1074ValfsTer20)
c.2993dup (p.Ser999ValfsTer20)
c.4088dup (p.Ser1364ValfsTer20)
c.2061dup
c.*1384dup (n.*1384dup)
n.5027dup
n.3628dup
c.4139dup (p.Ser1381ValfsTer20)
c.4187dup (p.Ser1397ValfsTer20)
c.4247dup (p.Ser1417ValfsTer20)
c.3797dup (p.Ser1267ValfsTer20)
c.2099dup (p.Ser701ValfsTer20)
c.1916dup (p.Ser640ValfsTer20)
c.4148dup (p.Ser1384ValfsTer20)
c.4100dup (p.Ser1368ValfsTer20)
c.3869dup (p.Ser1291ValfsTer20)
c.3770dup (p.Ser1258ValfsTer20)
c.2951dup (p.Ser985ValfsTer20)
n.4502dup
 ClinVar dbSNP gnomAD v4
13g.51934872C>ACA388019208ATP7Bc.*1932G>T (n.*1932G>T)
c.*3026G>T (n.*3026G>T)
c.3661G>T (p.Val1221Leu)
c.4282G>T (p.Val1428Leu)
c.3949G>T (p.Val1317Leu)
c.4030G>T (p.Val1344Leu)
n.1605G>T
c.4048G>T (p.Val1350Leu)
n.4421G>T
n.1148G>T
c.3217G>T (p.Val1073Leu)
c.2992G>T (p.Val998Leu)
c.4087G>T (p.Val1363Leu)
c.2060G>T
c.*1383G>T (n.*1383G>T)
n.5026G>T
n.3627G>T
c.4138G>T (p.Val1380Leu)
c.4186G>T (p.Val1396Leu)
c.4246G>T (p.Val1416Leu)
c.3796G>T (p.Val1266Leu)
c.2098G>T (p.Val700Leu)
c.1915G>T (p.Val639Leu)
c.4147G>T (p.Val1383Leu)
c.4099G>T (p.Val1367Leu)
c.3868G>T (p.Val1290Leu)
c.3769G>T (p.Val1257Leu)
c.2950G>T (p.Val984Leu)
n.4501G>T
13g.51934872C=CA2091550336ATP7Bc.*1932G= (n.*1932G=)
c.*3026G= (n.*3026G=)
c.3661G= (p.Val1221=)
c.4282G= (p.Val1428=)
c.3949G= (p.Val1317=)
c.4030G= (p.Val1344=)
n.1605G=
c.4048G= (p.Val1350=)
n.4421G=
n.1148G=
c.3217G= (p.Val1073=)
c.2992G= (p.Val998=)
c.4087G= (p.Val1363=)
c.2060G=
c.*1383G= (n.*1383G=)
n.5026G=
n.3627G=
c.4138G= (p.Val1380=)
c.4186G= (p.Val1396=)
c.4246G= (p.Val1416=)
c.3796G= (p.Val1266=)
c.2098G= (p.Val700=)
c.1915G= (p.Val639=)
c.4147G= (p.Val1383=)
c.4099G= (p.Val1367=)
c.3868G= (p.Val1290=)
c.3769G= (p.Val1257=)
c.2950G= (p.Val984=)
n.4501G=
13g.51934872C>GCA388019211ATP7Bc.*1932G>C (n.*1932G>C)
c.*3026G>C (n.*3026G>C)
c.3661G>C (p.Val1221Leu)
c.4282G>C (p.Val1428Leu)
c.3949G>C (p.Val1317Leu)
c.4030G>C (p.Val1344Leu)
n.1605G>C
c.4048G>C (p.Val1350Leu)
n.4421G>C
n.1148G>C
c.3217G>C (p.Val1073Leu)
c.2992G>C (p.Val998Leu)
c.4087G>C (p.Val1363Leu)
c.2060G>C
c.*1383G>C (n.*1383G>C)
n.5026G>C
n.3627G>C
c.4138G>C (p.Val1380Leu)
c.4186G>C (p.Val1396Leu)
c.4246G>C (p.Val1416Leu)
c.3796G>C (p.Val1266Leu)
c.2098G>C (p.Val700Leu)
c.1915G>C (p.Val639Leu)
c.4147G>C (p.Val1383Leu)
c.4099G>C (p.Val1367Leu)
c.3868G>C (p.Val1290Leu)
c.3769G>C (p.Val1257Leu)
c.2950G>C (p.Val984Leu)
n.4501G>C
13g.51934872C>TCA6988436ATP7Bc.*1932G>A (n.*1932G>A)
c.*3026G>A (n.*3026G>A)
c.3661G>A (p.Val1221Met)
c.4282G>A (p.Val1428Met)
c.3949G>A (p.Val1317Met)
c.4030G>A (p.Val1344Met)
n.1605G>A
c.4048G>A (p.Val1350Met)
n.4421G>A
n.1148G>A
c.3217G>A (p.Val1073Met)
c.2992G>A (p.Val998Met)
c.4087G>A (p.Val1363Met)
c.2060G>A
c.*1383G>A (n.*1383G>A)
n.5026G>A
n.3627G>A
c.4138G>A (p.Val1380Met)
c.4186G>A (p.Val1396Met)
c.4246G>A (p.Val1416Met)
c.3796G>A (p.Val1266Met)
c.2098G>A (p.Val700Met)
c.1915G>A (p.Val639Met)
c.4147G>A (p.Val1383Met)
c.4099G>A (p.Val1367Met)
c.3868G>A (p.Val1290Met)
c.3769G>A (p.Val1257Met)
c.2950G>A (p.Val984Met)
n.4501G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934873C>ACA388019215ATP7Bc.*1931G>T (n.*1931G>T)
c.*3025G>T (n.*3025G>T)
c.3660G>T (p.Gln1220His)
c.4281G>T (p.Gln1427His)
c.3948G>T (p.Gln1316His)
c.4029G>T (p.Gln1343His)
n.1604G>T
c.4047G>T (p.Gln1349His)
n.4420G>T
n.1147G>T
c.3216G>T (p.Gln1072His)
c.2991G>T (p.Gln997His)
c.4086G>T (p.Gln1362His)
c.2059G>T
c.*1382G>T (n.*1382G>T)
n.5025G>T
n.3626G>T
c.4137G>T (p.Gln1379His)
c.4185G>T (p.Gln1395His)
c.4245G>T (p.Gln1415His)
c.3795G>T (p.Gln1265His)
c.2097G>T (p.Gln699His)
c.1914G>T (p.Gln638His)
c.4146G>T (p.Gln1382His)
c.4098G>T (p.Gln1366His)
c.3867G>T (p.Gln1289His)
c.3768G>T (p.Gln1256His)
c.2949G>T (p.Gln983His)
n.4500G>T
13g.51934873C>GCA388019216ATP7Bc.*1931G>C (n.*1931G>C)
c.*3025G>C (n.*3025G>C)
c.3660G>C (p.Gln1220His)
c.4281G>C (p.Gln1427His)
c.3948G>C (p.Gln1316His)
c.4029G>C (p.Gln1343His)
n.1604G>C
c.4047G>C (p.Gln1349His)
n.4420G>C
n.1147G>C
c.3216G>C (p.Gln1072His)
c.2991G>C (p.Gln997His)
c.4086G>C (p.Gln1362His)
c.2059G>C
c.*1382G>C (n.*1382G>C)
n.5025G>C
n.3626G>C
c.4137G>C (p.Gln1379His)
c.4185G>C (p.Gln1395His)
c.4245G>C (p.Gln1415His)
c.3795G>C (p.Gln1265His)
c.2097G>C (p.Gln699His)
c.1914G>C (p.Gln638His)
c.4146G>C (p.Gln1382His)
c.4098G>C (p.Gln1366His)
c.3867G>C (p.Gln1289His)
c.3768G>C (p.Gln1256His)
c.2949G>C (p.Gln983His)
n.4500G>C
13g.51934873C>TCA484024153ATP7Bc.*1931G>A (n.*1931G>A)
c.*3025G>A (n.*3025G>A)
c.3660G>A (p.Gln1220=)
c.4281G>A (p.Gln1427=)
c.3948G>A (p.Gln1316=)
c.4029G>A (p.Gln1343=)
n.1604G>A
c.4047G>A (p.Gln1349=)
n.4420G>A
n.1147G>A
c.3216G>A (p.Gln1072=)
c.2991G>A (p.Gln997=)
c.4086G>A (p.Gln1362=)
c.2059G>A
c.*1382G>A (n.*1382G>A)
n.5025G>A
n.3626G>A
c.4137G>A (p.Gln1379=)
c.4185G>A (p.Gln1395=)
c.4245G>A (p.Gln1415=)
c.3795G>A (p.Gln1265=)
c.2097G>A (p.Gln699=)
c.1914G>A (p.Gln638=)
c.4146G>A (p.Gln1382=)
c.4098G>A (p.Gln1366=)
c.3867G>A (p.Gln1289=)
c.3768G>A (p.Gln1256=)
c.2949G>A (p.Gln983=)
n.4500G>A
13g.51934874T>ACA388019219ATP7Bc.*1930A>T (n.*1930A>T)
c.*3024A>T (n.*3024A>T)
c.3659A>T (p.Gln1220Leu)
c.4280A>T (p.Gln1427Leu)
c.3947A>T (p.Gln1316Leu)
c.4028A>T (p.Gln1343Leu)
n.1603A>T
c.4046A>T (p.Gln1349Leu)
n.4419A>T
n.1146A>T
c.3215A>T (p.Gln1072Leu)
c.2990A>T (p.Gln997Leu)
c.4085A>T (p.Gln1362Leu)
c.2058A>T
c.*1381A>T (n.*1381A>T)
n.5024A>T
n.3625A>T
c.4136A>T (p.Gln1379Leu)
c.4184A>T (p.Gln1395Leu)
c.4244A>T (p.Gln1415Leu)
c.3794A>T (p.Gln1265Leu)
c.2096A>T (p.Gln699Leu)
c.1913A>T (p.Gln638Leu)
c.4145A>T (p.Gln1382Leu)
c.4097A>T (p.Gln1366Leu)
c.3866A>T (p.Gln1289Leu)
c.3767A>T (p.Gln1256Leu)
c.2948A>T (p.Gln983Leu)
n.4499A>T
13g.51934874T>CCA388019221ATP7Bc.*1930A>G (n.*1930A>G)
c.*3024A>G (n.*3024A>G)
c.3659A>G (p.Gln1220Arg)
c.4280A>G (p.Gln1427Arg)
c.3947A>G (p.Gln1316Arg)
c.4028A>G (p.Gln1343Arg)
n.1603A>G
c.4046A>G (p.Gln1349Arg)
n.4419A>G
n.1146A>G
c.3215A>G (p.Gln1072Arg)
c.2990A>G (p.Gln997Arg)
c.4085A>G (p.Gln1362Arg)
c.2058A>G
c.*1381A>G (n.*1381A>G)
n.5024A>G
n.3625A>G
c.4136A>G (p.Gln1379Arg)
c.4184A>G (p.Gln1395Arg)
c.4244A>G (p.Gln1415Arg)
c.3794A>G (p.Gln1265Arg)
c.2096A>G (p.Gln699Arg)
c.1913A>G (p.Gln638Arg)
c.4145A>G (p.Gln1382Arg)
c.4097A>G (p.Gln1366Arg)
c.3866A>G (p.Gln1289Arg)
c.3767A>G (p.Gln1256Arg)
c.2948A>G (p.Gln983Arg)
n.4499A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51934874T>GCA388019224ATP7Bc.*1930A>C (n.*1930A>C)
c.*3024A>C (n.*3024A>C)
c.3659A>C (p.Gln1220Pro)
c.4280A>C (p.Gln1427Pro)
c.3947A>C (p.Gln1316Pro)
c.4028A>C (p.Gln1343Pro)
n.1603A>C
c.4046A>C (p.Gln1349Pro)
n.4419A>C
n.1146A>C
c.3215A>C (p.Gln1072Pro)
c.2990A>C (p.Gln997Pro)
c.4085A>C (p.Gln1362Pro)
c.2058A>C
c.*1381A>C (n.*1381A>C)
n.5024A>C
n.3625A>C
c.4136A>C (p.Gln1379Pro)
c.4184A>C (p.Gln1395Pro)
c.4244A>C (p.Gln1415Pro)
c.3794A>C (p.Gln1265Pro)
c.2096A>C (p.Gln699Pro)
c.1913A>C (p.Gln638Pro)
c.4145A>C (p.Gln1382Pro)
c.4097A>C (p.Gln1366Pro)
c.3866A>C (p.Gln1289Pro)
c.3767A>C (p.Gln1256Pro)
c.2948A>C (p.Gln983Pro)
n.4499A>C
13g.51934874T=CA2091550340ATP7Bc.*1930A= (n.*1930A=)
c.*3024A= (n.*3024A=)
c.3659A= (p.Gln1220=)
c.4280A= (p.Gln1427=)
c.3947A= (p.Gln1316=)
c.4028A= (p.Gln1343=)
n.1603A=
c.4046A= (p.Gln1349=)
n.4419A=
n.1146A=
c.3215A= (p.Gln1072=)
c.2990A= (p.Gln997=)
c.4085A= (p.Gln1362=)
c.2058A=
c.*1381A= (n.*1381A=)
n.5024A=
n.3625A=
c.4136A= (p.Gln1379=)
c.4184A= (p.Gln1395=)
c.4244A= (p.Gln1415=)
c.3794A= (p.Gln1265=)
c.2096A= (p.Gln699=)
c.1913A= (p.Gln638=)
c.4145A= (p.Gln1382=)
c.4097A= (p.Gln1366=)
c.3866A= (p.Gln1289=)
c.3767A= (p.Gln1256=)
c.2948A= (p.Gln983=)
n.4499A=
13g.51934875G>ACA388019228ATP7Bc.*1929C>T (n.*1929C>T)
c.*3023C>T (n.*3023C>T)
c.3658C>T (p.Gln1220Ter)
c.4279C>T (p.Gln1427Ter)
c.3946C>T (p.Gln1316Ter)
c.4027C>T (p.Gln1343Ter)
n.1602C>T
c.4045C>T (p.Gln1349Ter)
n.4418C>T
n.1145C>T
c.3214C>T (p.Gln1072Ter)
c.2989C>T (p.Gln997Ter)
c.4084C>T (p.Gln1362Ter)
c.2057C>T
c.*1380C>T (n.*1380C>T)
n.5023C>T
n.3624C>T
c.4135C>T (p.Gln1379Ter)
c.4183C>T (p.Gln1395Ter)
c.4243C>T (p.Gln1415Ter)
c.3793C>T (p.Gln1265Ter)
c.2095C>T (p.Gln699Ter)
c.1912C>T (p.Gln638Ter)
c.4144C>T (p.Gln1382Ter)
c.4096C>T (p.Gln1366Ter)
c.3865C>T (p.Gln1289Ter)
c.3766C>T (p.Gln1256Ter)
c.2947C>T (p.Gln983Ter)
n.4498C>T
 gnomAD v4
13g.51934875G>CCA6988437ATP7Bc.*1929C>G (n.*1929C>G)
c.*3023C>G (n.*3023C>G)
c.3658C>G (p.Gln1220Glu)
c.4279C>G (p.Gln1427Glu)
c.3946C>G (p.Gln1316Glu)
c.4027C>G (p.Gln1343Glu)
n.1602C>G
c.4045C>G (p.Gln1349Glu)
n.4418C>G
n.1145C>G
c.3214C>G (p.Gln1072Glu)
c.2989C>G (p.Gln997Glu)
c.4084C>G (p.Gln1362Glu)
c.2057C>G
c.*1380C>G (n.*1380C>G)
n.5023C>G
n.3624C>G
c.4135C>G (p.Gln1379Glu)
c.4183C>G (p.Gln1395Glu)
c.4243C>G (p.Gln1415Glu)
c.3793C>G (p.Gln1265Glu)
c.2095C>G (p.Gln699Glu)
c.1912C>G (p.Gln638Glu)
c.4144C>G (p.Gln1382Glu)
c.4096C>G (p.Gln1366Glu)
c.3865C>G (p.Gln1289Glu)
c.3766C>G (p.Gln1256Glu)
c.2947C>G (p.Gln983Glu)
n.4498C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934875G=CA2091550343ATP7Bc.*1929C= (n.*1929C=)
c.*3023C= (n.*3023C=)
c.3658C= (p.Gln1220=)
c.4279C= (p.Gln1427=)
c.3946C= (p.Gln1316=)
c.4027C= (p.Gln1343=)
n.1602C=
c.4045C= (p.Gln1349=)
n.4418C=
n.1145C=
c.3214C= (p.Gln1072=)
c.2989C= (p.Gln997=)
c.4084C= (p.Gln1362=)
c.2057C=
c.*1380C= (n.*1380C=)
n.5023C=
n.3624C=
c.4135C= (p.Gln1379=)
c.4183C= (p.Gln1395=)
c.4243C= (p.Gln1415=)
c.3793C= (p.Gln1265=)
c.2095C= (p.Gln699=)
c.1912C= (p.Gln638=)
c.4144C= (p.Gln1382=)
c.4096C= (p.Gln1366=)
c.3865C= (p.Gln1289=)
c.3766C= (p.Gln1256=)
c.2947C= (p.Gln983=)
n.4498C=
13g.51934875G>TCA388019231ATP7Bc.*1929C>A (n.*1929C>A)
c.*3023C>A (n.*3023C>A)
c.3658C>A (p.Gln1220Lys)
c.4279C>A (p.Gln1427Lys)
c.3946C>A (p.Gln1316Lys)
c.4027C>A (p.Gln1343Lys)
n.1602C>A
c.4045C>A (p.Gln1349Lys)
n.4418C>A
n.1145C>A
c.3214C>A (p.Gln1072Lys)
c.2989C>A (p.Gln997Lys)
c.4084C>A (p.Gln1362Lys)
c.2057C>A
c.*1380C>A (n.*1380C>A)
n.5023C>A
n.3624C>A
c.4135C>A (p.Gln1379Lys)
c.4183C>A (p.Gln1395Lys)
c.4243C>A (p.Gln1415Lys)
c.3793C>A (p.Gln1265Lys)
c.2095C>A (p.Gln699Lys)
c.1912C>A (p.Gln638Lys)
c.4144C>A (p.Gln1382Lys)
c.4096C>A (p.Gln1366Lys)
c.3865C>A (p.Gln1289Lys)
c.3766C>A (p.Gln1256Lys)
c.2947C>A (p.Gln983Lys)
n.4498C>A
13g.51934876G>ACA484024154ATP7Bc.*1928C>T (n.*1928C>T)
c.*3022C>T (n.*3022C>T)
c.3657C>T (p.Ser1219=)
c.4278C>T (p.Ser1426=)
c.3945C>T (p.Ser1315=)
c.4026C>T (p.Ser1342=)
n.1601C>T
c.4044C>T (p.Ser1348=)
n.4417C>T
n.1144C>T
c.3213C>T (p.Ser1071=)
c.2988C>T (p.Ser996=)
c.4083C>T (p.Ser1361=)
c.2056C>T
c.*1379C>T (n.*1379C>T)
n.5022C>T
n.3623C>T
c.4134C>T (p.Ser1378=)
c.4182C>T (p.Ser1394=)
c.4242C>T (p.Ser1414=)
c.3792C>T (p.Ser1264=)
c.2094C>T (p.Ser698=)
c.1911C>T (p.Ser637=)
c.4143C>T (p.Ser1381=)
c.4095C>T (p.Ser1365=)
c.3864C>T (p.Ser1288=)
c.3765C>T (p.Ser1255=)
c.2946C>T (p.Ser982=)
n.4497C>T
 ClinVar dbSNP gnomAD v4
13g.51934876G>CCA388019232ATP7Bc.*1928C>G (n.*1928C>G)
c.*3022C>G (n.*3022C>G)
c.3657C>G (p.Ser1219Arg)
c.4278C>G (p.Ser1426Arg)
c.3945C>G (p.Ser1315Arg)
c.4026C>G (p.Ser1342Arg)
n.1601C>G
c.4044C>G (p.Ser1348Arg)
n.4417C>G
n.1144C>G
c.3213C>G (p.Ser1071Arg)
c.2988C>G (p.Ser996Arg)
c.4083C>G (p.Ser1361Arg)
c.2056C>G
c.*1379C>G (n.*1379C>G)
n.5022C>G
n.3623C>G
c.4134C>G (p.Ser1378Arg)
c.4182C>G (p.Ser1394Arg)
c.4242C>G (p.Ser1414Arg)
c.3792C>G (p.Ser1264Arg)
c.2094C>G (p.Ser698Arg)
c.1911C>G (p.Ser637Arg)
c.4143C>G (p.Ser1381Arg)
c.4095C>G (p.Ser1365Arg)
c.3864C>G (p.Ser1288Arg)
c.3765C>G (p.Ser1255Arg)
c.2946C>G (p.Ser982Arg)
n.4497C>G
13g.51934876G=CA2091550346ATP7Bc.*1928C= (n.*1928C=)
c.*3022C= (n.*3022C=)
c.3657C= (p.Ser1219=)
c.4278C= (p.Ser1426=)
c.3945C= (p.Ser1315=)
c.4026C= (p.Ser1342=)
n.1601C=
c.4044C= (p.Ser1348=)
n.4417C=
n.1144C=
c.3213C= (p.Ser1071=)
c.2988C= (p.Ser996=)
c.4083C= (p.Ser1361=)
c.2056C=
c.*1379C= (n.*1379C=)
n.5022C=
n.3623C=
c.4134C= (p.Ser1378=)
c.4182C= (p.Ser1394=)
c.4242C= (p.Ser1414=)
c.3792C= (p.Ser1264=)
c.2094C= (p.Ser698=)
c.1911C= (p.Ser637=)
c.4143C= (p.Ser1381=)
c.4095C= (p.Ser1365=)
c.3864C= (p.Ser1288=)
c.3765C= (p.Ser1255=)
c.2946C= (p.Ser982=)
n.4497C=
13g.51934876G>TCA388019238ATP7Bc.*1928C>A (n.*1928C>A)
c.*3022C>A (n.*3022C>A)
c.3657C>A (p.Ser1219Arg)
c.4278C>A (p.Ser1426Arg)
c.3945C>A (p.Ser1315Arg)
c.4026C>A (p.Ser1342Arg)
n.1601C>A
c.4044C>A (p.Ser1348Arg)
n.4417C>A
n.1144C>A
c.3213C>A (p.Ser1071Arg)
c.2988C>A (p.Ser996Arg)
c.4083C>A (p.Ser1361Arg)
c.2056C>A
c.*1379C>A (n.*1379C>A)
n.5022C>A
n.3623C>A
c.4134C>A (p.Ser1378Arg)
c.4182C>A (p.Ser1394Arg)
c.4242C>A (p.Ser1414Arg)
c.3792C>A (p.Ser1264Arg)
c.2094C>A (p.Ser698Arg)
c.1911C>A (p.Ser637Arg)
c.4143C>A (p.Ser1381Arg)
c.4095C>A (p.Ser1365Arg)
c.3864C>A (p.Ser1288Arg)
c.3765C>A (p.Ser1255Arg)
c.2946C>A (p.Ser982Arg)
n.4497C>A
 dbSNP gnomAD v2 gnomAD v4
13g.51934877C>ACA6988438ATP7Bc.*1927G>T (n.*1927G>T)
c.*3021G>T (n.*3021G>T)
c.3656G>T (p.Ser1219Ile)
c.4277G>T (p.Ser1426Ile)
c.3944G>T (p.Ser1315Ile)
c.4025G>T (p.Ser1342Ile)
n.1600G>T
c.4043G>T (p.Ser1348Ile)
n.4416G>T
n.1143G>T
c.3212G>T (p.Ser1071Ile)
c.2987G>T (p.Ser996Ile)
c.4082G>T (p.Ser1361Ile)
c.2055G>T
c.*1378G>T (n.*1378G>T)
n.5021G>T
n.3622G>T
c.4133G>T (p.Ser1378Ile)
c.4181G>T (p.Ser1394Ile)
c.4241G>T (p.Ser1414Ile)
c.3791G>T (p.Ser1264Ile)
c.2093G>T (p.Ser698Ile)
c.1910G>T (p.Ser637Ile)
c.4142G>T (p.Ser1381Ile)
c.4094G>T (p.Ser1365Ile)
c.3863G>T (p.Ser1288Ile)
c.3764G>T (p.Ser1255Ile)
c.2945G>T (p.Ser982Ile)
n.4496G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934877C=CA2091550349ATP7Bc.*1927G= (n.*1927G=)
c.*3021G= (n.*3021G=)
c.3656G= (p.Ser1219=)
c.4277G= (p.Ser1426=)
c.3944G= (p.Ser1315=)
c.4025G= (p.Ser1342=)
n.1600G=
c.4043G= (p.Ser1348=)
n.4416G=
n.1143G=
c.3212G= (p.Ser1071=)
c.2987G= (p.Ser996=)
c.4082G= (p.Ser1361=)
c.2055G=
c.*1378G= (n.*1378G=)
n.5021G=
n.3622G=
c.4133G= (p.Ser1378=)
c.4181G= (p.Ser1394=)
c.4241G= (p.Ser1414=)
c.3791G= (p.Ser1264=)
c.2093G= (p.Ser698=)
c.1910G= (p.Ser637=)
c.4142G= (p.Ser1381=)
c.4094G= (p.Ser1365=)
c.3863G= (p.Ser1288=)
c.3764G= (p.Ser1255=)
c.2945G= (p.Ser982=)
n.4496G=
13g.51934877C>GCA388019244ATP7Bc.*1927G>C (n.*1927G>C)
c.*3021G>C (n.*3021G>C)
c.3656G>C (p.Ser1219Thr)
c.4277G>C (p.Ser1426Thr)
c.3944G>C (p.Ser1315Thr)
c.4025G>C (p.Ser1342Thr)
n.1600G>C
c.4043G>C (p.Ser1348Thr)
n.4416G>C
n.1143G>C
c.3212G>C (p.Ser1071Thr)
c.2987G>C (p.Ser996Thr)
c.4082G>C (p.Ser1361Thr)
c.2055G>C
c.*1378G>C (n.*1378G>C)
n.5021G>C
n.3622G>C
c.4133G>C (p.Ser1378Thr)
c.4181G>C (p.Ser1394Thr)
c.4241G>C (p.Ser1414Thr)
c.3791G>C (p.Ser1264Thr)
c.2093G>C (p.Ser698Thr)
c.1910G>C (p.Ser637Thr)
c.4142G>C (p.Ser1381Thr)
c.4094G>C (p.Ser1365Thr)
c.3863G>C (p.Ser1288Thr)
c.3764G>C (p.Ser1255Thr)
c.2945G>C (p.Ser982Thr)
n.4496G>C
13g.51934877C>TCA388019247ATP7Bc.*1927G>A (n.*1927G>A)
c.*3021G>A (n.*3021G>A)
c.3656G>A (p.Ser1219Asn)
c.4277G>A (p.Ser1426Asn)
c.3944G>A (p.Ser1315Asn)
c.4025G>A (p.Ser1342Asn)
n.1600G>A
c.4043G>A (p.Ser1348Asn)
n.4416G>A
n.1143G>A
c.3212G>A (p.Ser1071Asn)
c.2987G>A (p.Ser996Asn)
c.4082G>A (p.Ser1361Asn)
c.2055G>A
c.*1378G>A (n.*1378G>A)
n.5021G>A
n.3622G>A
c.4133G>A (p.Ser1378Asn)
c.4181G>A (p.Ser1394Asn)
c.4241G>A (p.Ser1414Asn)
c.3791G>A (p.Ser1264Asn)
c.2093G>A (p.Ser698Asn)
c.1910G>A (p.Ser637Asn)
c.4142G>A (p.Ser1381Asn)
c.4094G>A (p.Ser1365Asn)
c.3863G>A (p.Ser1288Asn)
c.3764G>A (p.Ser1255Asn)
c.2945G>A (p.Ser982Asn)
n.4496G>A
 gnomAD v4
13g.51934878T>ACA388019252ATP7Bc.*1926A>T (n.*1926A>T)
c.*3020A>T (n.*3020A>T)
c.3655A>T (p.Ser1219Cys)
c.4276A>T (p.Ser1426Cys)
c.3943A>T (p.Ser1315Cys)
c.4024A>T (p.Ser1342Cys)
n.1599A>T
c.4042A>T (p.Ser1348Cys)
n.4415A>T
n.1142A>T
c.3211A>T (p.Ser1071Cys)
c.2986A>T (p.Ser996Cys)
c.4081A>T (p.Ser1361Cys)
c.2054A>T
c.*1377A>T (n.*1377A>T)
n.5020A>T
n.3621A>T
c.4132A>T (p.Ser1378Cys)
c.4180A>T (p.Ser1394Cys)
c.4240A>T (p.Ser1414Cys)
c.3790A>T (p.Ser1264Cys)
c.2092A>T (p.Ser698Cys)
c.1909A>T (p.Ser637Cys)
c.4141A>T (p.Ser1381Cys)
c.4093A>T (p.Ser1365Cys)
c.3862A>T (p.Ser1288Cys)
c.3763A>T (p.Ser1255Cys)
c.2944A>T (p.Ser982Cys)
n.4495A>T
13g.51934878T>CCA388019255ATP7Bc.*1926A>G (n.*1926A>G)
c.*3020A>G (n.*3020A>G)
c.3655A>G (p.Ser1219Gly)
c.4276A>G (p.Ser1426Gly)
c.3943A>G (p.Ser1315Gly)
c.4024A>G (p.Ser1342Gly)
n.1599A>G
c.4042A>G (p.Ser1348Gly)
n.4415A>G
n.1142A>G
c.3211A>G (p.Ser1071Gly)
c.2986A>G (p.Ser996Gly)
c.4081A>G (p.Ser1361Gly)
c.2054A>G
c.*1377A>G (n.*1377A>G)
n.5020A>G
n.3621A>G
c.4132A>G (p.Ser1378Gly)
c.4180A>G (p.Ser1394Gly)
c.4240A>G (p.Ser1414Gly)
c.3790A>G (p.Ser1264Gly)
c.2092A>G (p.Ser698Gly)
c.1909A>G (p.Ser637Gly)
c.4141A>G (p.Ser1381Gly)
c.4093A>G (p.Ser1365Gly)
c.3862A>G (p.Ser1288Gly)
c.3763A>G (p.Ser1255Gly)
c.2944A>G (p.Ser982Gly)
n.4495A>G
13g.51934878T>GCA388019249ATP7Bc.*1926A>C (n.*1926A>C)
c.*3020A>C (n.*3020A>C)
c.3655A>C (p.Ser1219Arg)
c.4276A>C (p.Ser1426Arg)
c.3943A>C (p.Ser1315Arg)
c.4024A>C (p.Ser1342Arg)
n.1599A>C
c.4042A>C (p.Ser1348Arg)
n.4415A>C
n.1142A>C
c.3211A>C (p.Ser1071Arg)
c.2986A>C (p.Ser996Arg)
c.4081A>C (p.Ser1361Arg)
c.2054A>C
c.*1377A>C (n.*1377A>C)
n.5020A>C
n.3621A>C
c.4132A>C (p.Ser1378Arg)
c.4180A>C (p.Ser1394Arg)
c.4240A>C (p.Ser1414Arg)
c.3790A>C (p.Ser1264Arg)
c.2092A>C (p.Ser698Arg)
c.1909A>C (p.Ser637Arg)
c.4141A>C (p.Ser1381Arg)
c.4093A>C (p.Ser1365Arg)
c.3862A>C (p.Ser1288Arg)
c.3763A>C (p.Ser1255Arg)
c.2944A>C (p.Ser982Arg)
n.4495A>C
13g.51934879G>ACA484024157ATP7Bc.*1925C>T (n.*1925C>T)
c.*3019C>T (n.*3019C>T)
c.3654C>T (p.Val1218=)
c.4275C>T (p.Val1425=)
c.3942C>T (p.Val1314=)
c.4023C>T (p.Val1341=)
n.1598C>T
c.4041C>T (p.Val1347=)
n.4414C>T
n.1141C>T
c.3210C>T (p.Val1070=)
c.2985C>T (p.Val995=)
c.4080C>T (p.Val1360=)
c.2053C>T
c.*1376C>T (n.*1376C>T)
n.5019C>T
n.3620C>T
c.4131C>T (p.Val1377=)
c.4179C>T (p.Val1393=)
c.4239C>T (p.Val1413=)
c.3789C>T (p.Val1263=)
c.2091C>T (p.Val697=)
c.1908C>T (p.Val636=)
c.4140C>T (p.Val1380=)
c.4092C>T (p.Val1364=)
c.3861C>T (p.Val1287=)
c.3762C>T (p.Val1254=)
c.2943C>T (p.Val981=)
n.4494C>T
 ClinVar dbSNP gnomAD v4
13g.51934879G>CCA484024156ATP7Bc.*1925C>G (n.*1925C>G)
c.*3019C>G (n.*3019C>G)
c.3654C>G (p.Val1218=)
c.4275C>G (p.Val1425=)
c.3942C>G (p.Val1314=)
c.4023C>G (p.Val1341=)
n.1598C>G
c.4041C>G (p.Val1347=)
n.4414C>G
n.1141C>G
c.3210C>G (p.Val1070=)
c.2985C>G (p.Val995=)
c.4080C>G (p.Val1360=)
c.2053C>G
c.*1376C>G (n.*1376C>G)
n.5019C>G
n.3620C>G
c.4131C>G (p.Val1377=)
c.4179C>G (p.Val1393=)
c.4239C>G (p.Val1413=)
c.3789C>G (p.Val1263=)
c.2091C>G (p.Val697=)
c.1908C>G (p.Val636=)
c.4140C>G (p.Val1380=)
c.4092C>G (p.Val1364=)
c.3861C>G (p.Val1287=)
c.3762C>G (p.Val1254=)
c.2943C>G (p.Val981=)
n.4494C>G
13g.51934879G>TCA484024155ATP7Bc.*1925C>A (n.*1925C>A)
c.*3019C>A (n.*3019C>A)
c.3654C>A (p.Val1218=)
c.4275C>A (p.Val1425=)
c.3942C>A (p.Val1314=)
c.4023C>A (p.Val1341=)
n.1598C>A
c.4041C>A (p.Val1347=)
n.4414C>A
n.1141C>A
c.3210C>A (p.Val1070=)
c.2985C>A (p.Val995=)
c.4080C>A (p.Val1360=)
c.2053C>A
c.*1376C>A (n.*1376C>A)
n.5019C>A
n.3620C>A
c.4131C>A (p.Val1377=)
c.4179C>A (p.Val1393=)
c.4239C>A (p.Val1413=)
c.3789C>A (p.Val1263=)
c.2091C>A (p.Val697=)
c.1908C>A (p.Val636=)
c.4140C>A (p.Val1380=)
c.4092C>A (p.Val1364=)
c.3861C>A (p.Val1287=)
c.3762C>A (p.Val1254=)
c.2943C>A (p.Val981=)
n.4494C>A
13g.51934880A>CCA388019259ATP7Bc.*1924T>G (n.*1924T>G)
c.*3018T>G (n.*3018T>G)
c.3653T>G (p.Val1218Gly)
c.4274T>G (p.Val1425Gly)
c.3941T>G (p.Val1314Gly)
c.4022T>G (p.Val1341Gly)
n.1597T>G
c.4040T>G (p.Val1347Gly)
n.4413T>G
n.1140T>G
c.3209T>G (p.Val1070Gly)
c.2984T>G (p.Val995Gly)
c.4079T>G (p.Val1360Gly)
c.2052T>G
c.*1375T>G (n.*1375T>G)
n.5018T>G
n.3619T>G
c.4130T>G (p.Val1377Gly)
c.4178T>G (p.Val1393Gly)
c.4238T>G (p.Val1413Gly)
c.3788T>G (p.Val1263Gly)
c.2090T>G (p.Val697Gly)
c.1907T>G (p.Val636Gly)
c.4139T>G (p.Val1380Gly)
c.4091T>G (p.Val1364Gly)
c.3860T>G (p.Val1287Gly)
c.3761T>G (p.Val1254Gly)
c.2942T>G (p.Val981Gly)
n.4493T>G
 gnomAD v4
13g.51934880A>GCA388019261ATP7Bc.*1924T>C (n.*1924T>C)
c.*3018T>C (n.*3018T>C)
c.3653T>C (p.Val1218Ala)
c.4274T>C (p.Val1425Ala)
c.3941T>C (p.Val1314Ala)
c.4022T>C (p.Val1341Ala)
n.1597T>C
c.4040T>C (p.Val1347Ala)
n.4413T>C
n.1140T>C
c.3209T>C (p.Val1070Ala)
c.2984T>C (p.Val995Ala)
c.4079T>C (p.Val1360Ala)
c.2052T>C
c.*1375T>C (n.*1375T>C)
n.5018T>C
n.3619T>C
c.4130T>C (p.Val1377Ala)
c.4178T>C (p.Val1393Ala)
c.4238T>C (p.Val1413Ala)
c.3788T>C (p.Val1263Ala)
c.2090T>C (p.Val697Ala)
c.1907T>C (p.Val636Ala)
c.4139T>C (p.Val1380Ala)
c.4091T>C (p.Val1364Ala)
c.3860T>C (p.Val1287Ala)
c.3761T>C (p.Val1254Ala)
c.2942T>C (p.Val981Ala)
n.4493T>C
 gnomAD v4 COSMIC
13g.51934880A>TCA388019263ATP7Bc.*1924T>A (n.*1924T>A)
c.*3018T>A (n.*3018T>A)
c.3653T>A (p.Val1218Asp)
c.4274T>A (p.Val1425Asp)
c.3941T>A (p.Val1314Asp)
c.4022T>A (p.Val1341Asp)
n.1597T>A
c.4040T>A (p.Val1347Asp)
n.4413T>A
n.1140T>A
c.3209T>A (p.Val1070Asp)
c.2984T>A (p.Val995Asp)
c.4079T>A (p.Val1360Asp)
c.2052T>A
c.*1375T>A (n.*1375T>A)
n.5018T>A
n.3619T>A
c.4130T>A (p.Val1377Asp)
c.4178T>A (p.Val1393Asp)
c.4238T>A (p.Val1413Asp)
c.3788T>A (p.Val1263Asp)
c.2090T>A (p.Val697Asp)
c.1907T>A (p.Val636Asp)
c.4139T>A (p.Val1380Asp)
c.4091T>A (p.Val1364Asp)
c.3860T>A (p.Val1287Asp)
c.3761T>A (p.Val1254Asp)
c.2942T>A (p.Val981Asp)
n.4493T>A
13g.51934881C>ACA388019266ATP7Bc.*1923G>T (n.*1923G>T)
c.*3017G>T (n.*3017G>T)
c.3652G>T (p.Val1218Phe)
c.4273G>T (p.Val1425Phe)
c.3940G>T (p.Val1314Phe)
c.4021G>T (p.Val1341Phe)
n.1596G>T
c.4039G>T (p.Val1347Phe)
n.4412G>T
n.1139G>T
c.3208G>T (p.Val1070Phe)
c.2983G>T (p.Val995Phe)
c.4078G>T (p.Val1360Phe)
c.2051G>T
c.*1374G>T (n.*1374G>T)
n.5017G>T
n.3618G>T
c.4129G>T (p.Val1377Phe)
c.4177G>T (p.Val1393Phe)
c.4237G>T (p.Val1413Phe)
c.3787G>T (p.Val1263Phe)
c.2089G>T (p.Val697Phe)
c.1906G>T (p.Val636Phe)
c.4138G>T (p.Val1380Phe)
c.4090G>T (p.Val1364Phe)
c.3859G>T (p.Val1287Phe)
c.3760G>T (p.Val1254Phe)
c.2941G>T (p.Val981Phe)
n.4492G>T
13g.51934881C=CA2091550355ATP7Bc.*1923G= (n.*1923G=)
c.*3017G= (n.*3017G=)
c.3652G= (p.Val1218=)
c.4273G= (p.Val1425=)
c.3940G= (p.Val1314=)
c.4021G= (p.Val1341=)
n.1596G=
c.4039G= (p.Val1347=)
n.4412G=
n.1139G=
c.3208G= (p.Val1070=)
c.2983G= (p.Val995=)
c.4078G= (p.Val1360=)
c.2051G=
c.*1374G= (n.*1374G=)
n.5017G=
n.3618G=
c.4129G= (p.Val1377=)
c.4177G= (p.Val1393=)
c.4237G= (p.Val1413=)
c.3787G= (p.Val1263=)
c.2089G= (p.Val697=)
c.1906G= (p.Val636=)
c.4138G= (p.Val1380=)
c.4090G= (p.Val1364=)
c.3859G= (p.Val1287=)
c.3760G= (p.Val1254=)
c.2941G= (p.Val981=)
n.4492G=
13g.51934881C>GCA388019267ATP7Bc.*1923G>C (n.*1923G>C)
c.*3017G>C (n.*3017G>C)
c.3652G>C (p.Val1218Leu)
c.4273G>C (p.Val1425Leu)
c.3940G>C (p.Val1314Leu)
c.4021G>C (p.Val1341Leu)
n.1596G>C
c.4039G>C (p.Val1347Leu)
n.4412G>C
n.1139G>C
c.3208G>C (p.Val1070Leu)
c.2983G>C (p.Val995Leu)
c.4078G>C (p.Val1360Leu)
c.2051G>C
c.*1374G>C (n.*1374G>C)
n.5017G>C
n.3618G>C
c.4129G>C (p.Val1377Leu)
c.4177G>C (p.Val1393Leu)
c.4237G>C (p.Val1413Leu)
c.3787G>C (p.Val1263Leu)
c.2089G>C (p.Val697Leu)
c.1906G>C (p.Val636Leu)
c.4138G>C (p.Val1380Leu)
c.4090G>C (p.Val1364Leu)
c.3859G>C (p.Val1287Leu)
c.3760G>C (p.Val1254Leu)
c.2941G>C (p.Val981Leu)
n.4492G>C
13g.51934881C>TCA6988439ATP7Bc.*1923G>A (n.*1923G>A)
c.*3017G>A (n.*3017G>A)
c.3652G>A (p.Val1218Ile)
c.4273G>A (p.Val1425Ile)
c.3940G>A (p.Val1314Ile)
c.4021G>A (p.Val1341Ile)
n.1596G>A
c.4039G>A (p.Val1347Ile)
n.4412G>A
n.1139G>A
c.3208G>A (p.Val1070Ile)
c.2983G>A (p.Val995Ile)
c.4078G>A (p.Val1360Ile)
c.2051G>A
c.*1374G>A (n.*1374G>A)
n.5017G>A
n.3618G>A
c.4129G>A (p.Val1377Ile)
c.4177G>A (p.Val1393Ile)
c.4237G>A (p.Val1413Ile)
c.3787G>A (p.Val1263Ile)
c.2089G>A (p.Val697Ile)
c.1906G>A (p.Val636Ile)
c.4138G>A (p.Val1380Ile)
c.4090G>A (p.Val1364Ile)
c.3859G>A (p.Val1287Ile)
c.3760G>A (p.Val1254Ile)
c.2941G>A (p.Val981Ile)
n.4492G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934882A=CA2091550357ATP7Bc.*1922T= (n.*1922T=)
c.*3016T= (n.*3016T=)
c.3651T= (p.Tyr1217=)
c.4272T= (p.Tyr1424=)
c.3939T= (p.Tyr1313=)
c.4020T= (p.Tyr1340=)
n.1595T=
c.4038T= (p.Tyr1346=)
n.4411T=
n.1138T=
c.3207T= (p.Tyr1069=)
c.2982T= (p.Tyr994=)
c.4077T= (p.Tyr1359=)
c.2050T=
c.*1373T= (n.*1373T=)
n.5016T=
n.3617T=
c.4128T= (p.Tyr1376=)
c.4176T= (p.Tyr1392=)
c.4236T= (p.Tyr1412=)
c.3786T= (p.Tyr1262=)
c.2088T= (p.Tyr696=)
c.1905T= (p.Tyr635=)
c.4137T= (p.Tyr1379=)
c.4089T= (p.Tyr1363=)
c.3858T= (p.Tyr1286=)
c.3759T= (p.Tyr1253=)
c.2940T= (p.Tyr980=)
n.4491T=
13g.51934882A>CCA388019276ATP7Bc.*1922T>G (n.*1922T>G)
c.*3016T>G (n.*3016T>G)
c.3651T>G (p.Tyr1217Ter)
c.4272T>G (p.Tyr1424Ter)
c.3939T>G (p.Tyr1313Ter)
c.4020T>G (p.Tyr1340Ter)
n.1595T>G
c.4038T>G (p.Tyr1346Ter)
n.4411T>G
n.1138T>G
c.3207T>G (p.Tyr1069Ter)
c.2982T>G (p.Tyr994Ter)
c.4077T>G (p.Tyr1359Ter)
c.2050T>G
c.*1373T>G (n.*1373T>G)
n.5016T>G
n.3617T>G
c.4128T>G (p.Tyr1376Ter)
c.4176T>G (p.Tyr1392Ter)
c.4236T>G (p.Tyr1412Ter)
c.3786T>G (p.Tyr1262Ter)
c.2088T>G (p.Tyr696Ter)
c.1905T>G (p.Tyr635Ter)
c.4137T>G (p.Tyr1379Ter)
c.4089T>G (p.Tyr1363Ter)
c.3858T>G (p.Tyr1286Ter)
c.3759T>G (p.Tyr1253Ter)
c.2940T>G (p.Tyr980Ter)
n.4491T>G
13g.51934882A>GCA6988440ATP7Bc.*1922T>C (n.*1922T>C)
c.*3016T>C (n.*3016T>C)
c.3651T>C (p.Tyr1217=)
c.4272T>C (p.Tyr1424=)
c.3939T>C (p.Tyr1313=)
c.4020T>C (p.Tyr1340=)
n.1595T>C
c.4038T>C (p.Tyr1346=)
n.4411T>C
n.1138T>C
c.3207T>C (p.Tyr1069=)
c.2982T>C (p.Tyr994=)
c.4077T>C (p.Tyr1359=)
c.2050T>C
c.*1373T>C (n.*1373T>C)
n.5016T>C
n.3617T>C
c.4128T>C (p.Tyr1376=)
c.4176T>C (p.Tyr1392=)
c.4236T>C (p.Tyr1412=)
c.3786T>C (p.Tyr1262=)
c.2088T>C (p.Tyr696=)
c.1905T>C (p.Tyr635=)
c.4137T>C (p.Tyr1379=)
c.4089T>C (p.Tyr1363=)
c.3858T>C (p.Tyr1286=)
c.3759T>C (p.Tyr1253=)
c.2940T>C (p.Tyr980=)
n.4491T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934882A>TCA388019280ATP7Bc.*1922T>A (n.*1922T>A)
c.*3016T>A (n.*3016T>A)
c.3651T>A (p.Tyr1217Ter)
c.4272T>A (p.Tyr1424Ter)
c.3939T>A (p.Tyr1313Ter)
c.4020T>A (p.Tyr1340Ter)
n.1595T>A
c.4038T>A (p.Tyr1346Ter)
n.4411T>A
n.1138T>A
c.3207T>A (p.Tyr1069Ter)
c.2982T>A (p.Tyr994Ter)
c.4077T>A (p.Tyr1359Ter)
c.2050T>A
c.*1373T>A (n.*1373T>A)
n.5016T>A
n.3617T>A
c.4128T>A (p.Tyr1376Ter)
c.4176T>A (p.Tyr1392Ter)
c.4236T>A (p.Tyr1412Ter)
c.3786T>A (p.Tyr1262Ter)
c.2088T>A (p.Tyr696Ter)
c.1905T>A (p.Tyr635Ter)
c.4137T>A (p.Tyr1379Ter)
c.4089T>A (p.Tyr1363Ter)
c.3858T>A (p.Tyr1286Ter)
c.3759T>A (p.Tyr1253Ter)
c.2940T>A (p.Tyr980Ter)
n.4491T>A
13g.51934883T>ACA388019283ATP7Bc.*1921A>T (n.*1921A>T)
c.*3015A>T (n.*3015A>T)
c.3650A>T (p.Tyr1217Phe)
c.4271A>T (p.Tyr1424Phe)
c.3938A>T (p.Tyr1313Phe)
c.4019A>T (p.Tyr1340Phe)
n.1594A>T
c.4037A>T (p.Tyr1346Phe)
n.4410A>T
n.1137A>T
c.3206A>T (p.Tyr1069Phe)
c.2981A>T (p.Tyr994Phe)
c.4076A>T (p.Tyr1359Phe)
c.2049A>T
c.*1372A>T (n.*1372A>T)
n.5015A>T
n.3616A>T
c.4127A>T (p.Tyr1376Phe)
c.4175A>T (p.Tyr1392Phe)
c.4235A>T (p.Tyr1412Phe)
c.3785A>T (p.Tyr1262Phe)
c.2087A>T (p.Tyr696Phe)
c.1904A>T (p.Tyr635Phe)
c.4136A>T (p.Tyr1379Phe)
c.4088A>T (p.Tyr1363Phe)
c.3857A>T (p.Tyr1286Phe)
c.3758A>T (p.Tyr1253Phe)
c.2939A>T (p.Tyr980Phe)
n.4490A>T
 gnomAD v4
13g.51934883T>CCA6988441ATP7Bc.*1921A>G (n.*1921A>G)
c.*3015A>G (n.*3015A>G)
c.3650A>G (p.Tyr1217Cys)
c.4271A>G (p.Tyr1424Cys)
c.3938A>G (p.Tyr1313Cys)
c.4019A>G (p.Tyr1340Cys)
n.1594A>G
c.4037A>G (p.Tyr1346Cys)
n.4410A>G
n.1137A>G
c.3206A>G (p.Tyr1069Cys)
c.2981A>G (p.Tyr994Cys)
c.4076A>G (p.Tyr1359Cys)
c.2049A>G
c.*1372A>G (n.*1372A>G)
n.5015A>G
n.3616A>G
c.4127A>G (p.Tyr1376Cys)
c.4175A>G (p.Tyr1392Cys)
c.4235A>G (p.Tyr1412Cys)
c.3785A>G (p.Tyr1262Cys)
c.2087A>G (p.Tyr696Cys)
c.1904A>G (p.Tyr635Cys)
c.4136A>G (p.Tyr1379Cys)
c.4088A>G (p.Tyr1363Cys)
c.3857A>G (p.Tyr1286Cys)
c.3758A>G (p.Tyr1253Cys)
c.2939A>G (p.Tyr980Cys)
n.4490A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934883T>GCA388019285ATP7Bc.*1921A>C (n.*1921A>C)
c.*3015A>C (n.*3015A>C)
c.3650A>C (p.Tyr1217Ser)
c.4271A>C (p.Tyr1424Ser)
c.3938A>C (p.Tyr1313Ser)
c.4019A>C (p.Tyr1340Ser)
n.1594A>C
c.4037A>C (p.Tyr1346Ser)
n.4410A>C
n.1137A>C
c.3206A>C (p.Tyr1069Ser)
c.2981A>C (p.Tyr994Ser)
c.4076A>C (p.Tyr1359Ser)
c.2049A>C
c.*1372A>C (n.*1372A>C)
n.5015A>C
n.3616A>C
c.4127A>C (p.Tyr1376Ser)
c.4175A>C (p.Tyr1392Ser)
c.4235A>C (p.Tyr1412Ser)
c.3785A>C (p.Tyr1262Ser)
c.2087A>C (p.Tyr696Ser)
c.1904A>C (p.Tyr635Ser)
c.4136A>C (p.Tyr1379Ser)
c.4088A>C (p.Tyr1363Ser)
c.3857A>C (p.Tyr1286Ser)
c.3758A>C (p.Tyr1253Ser)
c.2939A>C (p.Tyr980Ser)
n.4490A>C
 dbSNP
13g.51934883T=CA2091550362ATP7Bc.*1921A= (n.*1921A=)
c.*3015A= (n.*3015A=)
c.3650A= (p.Tyr1217=)
c.4271A= (p.Tyr1424=)
c.3938A= (p.Tyr1313=)
c.4019A= (p.Tyr1340=)
n.1594A=
c.4037A= (p.Tyr1346=)
n.4410A=
n.1137A=
c.3206A= (p.Tyr1069=)
c.2981A= (p.Tyr994=)
c.4076A= (p.Tyr1359=)
c.2049A=
c.*1372A= (n.*1372A=)
n.5015A=
n.3616A=
c.4127A= (p.Tyr1376=)
c.4175A= (p.Tyr1392=)
c.4235A= (p.Tyr1412=)
c.3785A= (p.Tyr1262=)
c.2087A= (p.Tyr696=)
c.1904A= (p.Tyr635=)
c.4136A= (p.Tyr1379=)
c.4088A= (p.Tyr1363=)
c.3857A= (p.Tyr1286=)
c.3758A= (p.Tyr1253=)
c.2939A= (p.Tyr980=)
n.4490A=
13g.51934884A>CCA388019289ATP7Bc.*1920T>G (n.*1920T>G)
c.*3014T>G (n.*3014T>G)
c.3649T>G (p.Tyr1217Asp)
c.4270T>G (p.Tyr1424Asp)
c.3937T>G (p.Tyr1313Asp)
c.4018T>G (p.Tyr1340Asp)
n.1593T>G
c.4036T>G (p.Tyr1346Asp)
n.4409T>G
n.1136T>G
c.3205T>G (p.Tyr1069Asp)
c.2980T>G (p.Tyr994Asp)
c.4075T>G (p.Tyr1359Asp)
c.2048T>G
c.*1371T>G (n.*1371T>G)
n.5014T>G
n.3615T>G
c.4126T>G (p.Tyr1376Asp)
c.4174T>G (p.Tyr1392Asp)
c.4234T>G (p.Tyr1412Asp)
c.3784T>G (p.Tyr1262Asp)
c.2086T>G (p.Tyr696Asp)
c.1903T>G (p.Tyr635Asp)
c.4135T>G (p.Tyr1379Asp)
c.4087T>G (p.Tyr1363Asp)
c.3856T>G (p.Tyr1286Asp)
c.3757T>G (p.Tyr1253Asp)
c.2938T>G (p.Tyr980Asp)
n.4489T>G
13g.51934884A>GCA388019291ATP7Bc.*1920T>C (n.*1920T>C)
c.*3014T>C (n.*3014T>C)
c.3649T>C (p.Tyr1217His)
c.4270T>C (p.Tyr1424His)
c.3937T>C (p.Tyr1313His)
c.4018T>C (p.Tyr1340His)
n.1593T>C
c.4036T>C (p.Tyr1346His)
n.4409T>C
n.1136T>C
c.3205T>C (p.Tyr1069His)
c.2980T>C (p.Tyr994His)
c.4075T>C (p.Tyr1359His)
c.2048T>C
c.*1371T>C (n.*1371T>C)
n.5014T>C
n.3615T>C
c.4126T>C (p.Tyr1376His)
c.4174T>C (p.Tyr1392His)
c.4234T>C (p.Tyr1412His)
c.3784T>C (p.Tyr1262His)
c.2086T>C (p.Tyr696His)
c.1903T>C (p.Tyr635His)
c.4135T>C (p.Tyr1379His)
c.4087T>C (p.Tyr1363His)
c.3856T>C (p.Tyr1286His)
c.3757T>C (p.Tyr1253His)
c.2938T>C (p.Tyr980His)
n.4489T>C
13g.51934884A>TCA388019288ATP7Bc.*1920T>A (n.*1920T>A)
c.*3014T>A (n.*3014T>A)
c.3649T>A (p.Tyr1217Asn)
c.4270T>A (p.Tyr1424Asn)
c.3937T>A (p.Tyr1313Asn)
c.4018T>A (p.Tyr1340Asn)
n.1593T>A
c.4036T>A (p.Tyr1346Asn)
n.4409T>A
n.1136T>A
c.3205T>A (p.Tyr1069Asn)
c.2980T>A (p.Tyr994Asn)
c.4075T>A (p.Tyr1359Asn)
c.2048T>A
c.*1371T>A (n.*1371T>A)
n.5014T>A
n.3615T>A
c.4126T>A (p.Tyr1376Asn)
c.4174T>A (p.Tyr1392Asn)
c.4234T>A (p.Tyr1412Asn)
c.3784T>A (p.Tyr1262Asn)
c.2086T>A (p.Tyr696Asn)
c.1903T>A (p.Tyr635Asn)
c.4135T>A (p.Tyr1379Asn)
c.4087T>A (p.Tyr1363Asn)
c.3856T>A (p.Tyr1286Asn)
c.3757T>A (p.Tyr1253Asn)
c.2938T>A (p.Tyr980Asn)
n.4489T>A
13g.51934885G>ACA484024158ATP7Bc.*1919C>T (n.*1919C>T)
c.*3013C>T (n.*3013C>T)
c.3648C>T (p.Ser1216=)
c.4269C>T (p.Ser1423=)
c.3936C>T (p.Ser1312=)
c.4017C>T (p.Ser1339=)
n.1592C>T
c.4035C>T (p.Ser1345=)
n.4408C>T
n.1135C>T
c.3204C>T (p.Ser1068=)
c.2979C>T (p.Ser993=)
c.4074C>T (p.Ser1358=)
c.2047C>T
c.*1370C>T (n.*1370C>T)
n.5013C>T
n.3614C>T
c.4125C>T (p.Ser1375=)
c.4173C>T (p.Ser1391=)
c.4233C>T (p.Ser1411=)
c.3783C>T (p.Ser1261=)
c.2085C>T (p.Ser695=)
c.1902C>T (p.Ser634=)
c.4134C>T (p.Ser1378=)
c.4086C>T (p.Ser1362=)
c.3855C>T (p.Ser1285=)
c.3756C>T (p.Ser1252=)
c.2937C>T (p.Ser979=)
n.4488C>T
13g.51934885G>CCA388019293ATP7Bc.*1919C>G (n.*1919C>G)
c.*3013C>G (n.*3013C>G)
c.3648C>G (p.Ser1216Arg)
c.4269C>G (p.Ser1423Arg)
c.3936C>G (p.Ser1312Arg)
c.4017C>G (p.Ser1339Arg)
n.1592C>G
c.4035C>G (p.Ser1345Arg)
n.4408C>G
n.1135C>G
c.3204C>G (p.Ser1068Arg)
c.2979C>G (p.Ser993Arg)
c.4074C>G (p.Ser1358Arg)
c.2047C>G
c.*1370C>G (n.*1370C>G)
n.5013C>G
n.3614C>G
c.4125C>G (p.Ser1375Arg)
c.4173C>G (p.Ser1391Arg)
c.4233C>G (p.Ser1411Arg)
c.3783C>G (p.Ser1261Arg)
c.2085C>G (p.Ser695Arg)
c.1902C>G (p.Ser634Arg)
c.4134C>G (p.Ser1378Arg)
c.4086C>G (p.Ser1362Arg)
c.3855C>G (p.Ser1285Arg)
c.3756C>G (p.Ser1252Arg)
c.2937C>G (p.Ser979Arg)
n.4488C>G
13g.51934885G>TCA388019295ATP7Bc.*1919C>A (n.*1919C>A)
c.*3013C>A (n.*3013C>A)
c.3648C>A (p.Ser1216Arg)
c.4269C>A (p.Ser1423Arg)
c.3936C>A (p.Ser1312Arg)
c.4017C>A (p.Ser1339Arg)
n.1592C>A
c.4035C>A (p.Ser1345Arg)
n.4408C>A
n.1135C>A
c.3204C>A (p.Ser1068Arg)
c.2979C>A (p.Ser993Arg)
c.4074C>A (p.Ser1358Arg)
c.2047C>A
c.*1370C>A (n.*1370C>A)
n.5013C>A
n.3614C>A
c.4125C>A (p.Ser1375Arg)
c.4173C>A (p.Ser1391Arg)
c.4233C>A (p.Ser1411Arg)
c.3783C>A (p.Ser1261Arg)
c.2085C>A (p.Ser695Arg)
c.1902C>A (p.Ser634Arg)
c.4134C>A (p.Ser1378Arg)
c.4086C>A (p.Ser1362Arg)
c.3855C>A (p.Ser1285Arg)
c.3756C>A (p.Ser1252Arg)
c.2937C>A (p.Ser979Arg)
n.4488C>A
13g.51934886_51934888delCA2575420347ATP7Bc.*1917_*1919del (n.*1917_*1919del)
c.*3011_*3013del (n.*3011_*3013del)
c.3646_3648del (p.Ser1216del)
c.4267_4269del (p.Ser1423del)
c.3934_3936del (p.Ser1312del)
c.4015_4017del (p.Ser1339del)
n.1590_1592del
c.4033_4035del (p.Ser1345del)
n.4406_4408del
n.1133_1135del
c.3202_3204del (p.Ser1068del)
c.2977_2979del (p.Ser993del)
c.4072_4074del (p.Ser1358del)
c.2045_2047del
c.*1368_*1370del (n.*1368_*1370del)
n.5011_5013del
n.3612_3614del
c.4123_4125del (p.Ser1375del)
c.4171_4173del (p.Ser1391del)
c.4231_4233del (p.Ser1411del)
c.3781_3783del (p.Ser1261del)
c.2083_2085del (p.Ser695del)
c.1900_1902del (p.Ser634del)
c.4132_4134del (p.Ser1378del)
c.4084_4086del (p.Ser1362del)
c.3853_3855del (p.Ser1285del)
c.3754_3756del (p.Ser1252del)
c.2935_2937del (p.Ser979del)
n.4486_4488del
13g.51934886C>ACA6988442ATP7Bc.*1918G>T (n.*1918G>T)
c.*3012G>T (n.*3012G>T)
c.3647G>T (p.Ser1216Ile)
c.4268G>T (p.Ser1423Ile)
c.3935G>T (p.Ser1312Ile)
c.4016G>T (p.Ser1339Ile)
n.1591G>T
c.4034G>T (p.Ser1345Ile)
n.4407G>T
n.1134G>T
c.3203G>T (p.Ser1068Ile)
c.2978G>T (p.Ser993Ile)
c.4073G>T (p.Ser1358Ile)
c.2046G>T
c.*1369G>T (n.*1369G>T)
n.5012G>T
n.3613G>T
c.4124G>T (p.Ser1375Ile)
c.4172G>T (p.Ser1391Ile)
c.4232G>T (p.Ser1411Ile)
c.3782G>T (p.Ser1261Ile)
c.2084G>T (p.Ser695Ile)
c.1901G>T (p.Ser634Ile)
c.4133G>T (p.Ser1378Ile)
c.4085G>T (p.Ser1362Ile)
c.3854G>T (p.Ser1285Ile)
c.3755G>T (p.Ser1252Ile)
c.2936G>T (p.Ser979Ile)
n.4487G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934886C=CA2091550367ATP7Bc.*1918G= (n.*1918G=)
c.*3012G= (n.*3012G=)
c.3647G= (p.Ser1216=)
c.4268G= (p.Ser1423=)
c.3935G= (p.Ser1312=)
c.4016G= (p.Ser1339=)
n.1591G=
c.4034G= (p.Ser1345=)
n.4407G=
n.1134G=
c.3203G= (p.Ser1068=)
c.2978G= (p.Ser993=)
c.4073G= (p.Ser1358=)
c.2046G=
c.*1369G= (n.*1369G=)
n.5012G=
n.3613G=
c.4124G= (p.Ser1375=)
c.4172G= (p.Ser1391=)
c.4232G= (p.Ser1411=)
c.3782G= (p.Ser1261=)
c.2084G= (p.Ser695=)
c.1901G= (p.Ser634=)
c.4133G= (p.Ser1378=)
c.4085G= (p.Ser1362=)
c.3854G= (p.Ser1285=)
c.3755G= (p.Ser1252=)
c.2936G= (p.Ser979=)
n.4487G=
13g.51934886C>GCA388019298ATP7Bc.*1918G>C (n.*1918G>C)
c.*3012G>C (n.*3012G>C)
c.3647G>C (p.Ser1216Thr)
c.4268G>C (p.Ser1423Thr)
c.3935G>C (p.Ser1312Thr)
c.4016G>C (p.Ser1339Thr)
n.1591G>C
c.4034G>C (p.Ser1345Thr)
n.4407G>C
n.1134G>C
c.3203G>C (p.Ser1068Thr)
c.2978G>C (p.Ser993Thr)
c.4073G>C (p.Ser1358Thr)
c.2046G>C
c.*1369G>C (n.*1369G>C)
n.5012G>C
n.3613G>C
c.4124G>C (p.Ser1375Thr)
c.4172G>C (p.Ser1391Thr)
c.4232G>C (p.Ser1411Thr)
c.3782G>C (p.Ser1261Thr)
c.2084G>C (p.Ser695Thr)
c.1901G>C (p.Ser634Thr)
c.4133G>C (p.Ser1378Thr)
c.4085G>C (p.Ser1362Thr)
c.3854G>C (p.Ser1285Thr)
c.3755G>C (p.Ser1252Thr)
c.2936G>C (p.Ser979Thr)
n.4487G>C
13g.51934886C>TCA388019300ATP7Bc.*1918G>A (n.*1918G>A)
c.*3012G>A (n.*3012G>A)
c.3647G>A (p.Ser1216Asn)
c.4268G>A (p.Ser1423Asn)
c.3935G>A (p.Ser1312Asn)
c.4016G>A (p.Ser1339Asn)
n.1591G>A
c.4034G>A (p.Ser1345Asn)
n.4407G>A
n.1134G>A
c.3203G>A (p.Ser1068Asn)
c.2978G>A (p.Ser993Asn)
c.4073G>A (p.Ser1358Asn)
c.2046G>A
c.*1369G>A (n.*1369G>A)
n.5012G>A
n.3613G>A
c.4124G>A (p.Ser1375Asn)
c.4172G>A (p.Ser1391Asn)
c.4232G>A (p.Ser1411Asn)
c.3782G>A (p.Ser1261Asn)
c.2084G>A (p.Ser695Asn)
c.1901G>A (p.Ser634Asn)
c.4133G>A (p.Ser1378Asn)
c.4085G>A (p.Ser1362Asn)
c.3854G>A (p.Ser1285Asn)
c.3755G>A (p.Ser1252Asn)
c.2936G>A (p.Ser979Asn)
n.4487G>A
 ClinVar dbSNP
13g.51934887T>ACA388019307ATP7Bc.*1917A>T (n.*1917A>T)
c.*3011A>T (n.*3011A>T)
c.3646A>T (p.Ser1216Cys)
c.4267A>T (p.Ser1423Cys)
c.3934A>T (p.Ser1312Cys)
c.4015A>T (p.Ser1339Cys)
n.1590A>T
c.4033A>T (p.Ser1345Cys)
n.4406A>T
n.1133A>T
c.3202A>T (p.Ser1068Cys)
c.2977A>T (p.Ser993Cys)
c.4072A>T (p.Ser1358Cys)
c.2045A>T
c.*1368A>T (n.*1368A>T)
n.5011A>T
n.3612A>T
c.4123A>T (p.Ser1375Cys)
c.4171A>T (p.Ser1391Cys)
c.4231A>T (p.Ser1411Cys)
c.3781A>T (p.Ser1261Cys)
c.2083A>T (p.Ser695Cys)
c.1900A>T (p.Ser634Cys)
c.4132A>T (p.Ser1378Cys)
c.4084A>T (p.Ser1362Cys)
c.3853A>T (p.Ser1285Cys)
c.3754A>T (p.Ser1252Cys)
c.2935A>T (p.Ser979Cys)
n.4486A>T
13g.51934887T>CCA388019302ATP7Bc.*1917A>G (n.*1917A>G)
c.*3011A>G (n.*3011A>G)
c.3646A>G (p.Ser1216Gly)
c.4267A>G (p.Ser1423Gly)
c.3934A>G (p.Ser1312Gly)
c.4015A>G (p.Ser1339Gly)
n.1590A>G
c.4033A>G (p.Ser1345Gly)
n.4406A>G
n.1133A>G
c.3202A>G (p.Ser1068Gly)
c.2977A>G (p.Ser993Gly)
c.4072A>G (p.Ser1358Gly)
c.2045A>G
c.*1368A>G (n.*1368A>G)
n.5011A>G
n.3612A>G
c.4123A>G (p.Ser1375Gly)
c.4171A>G (p.Ser1391Gly)
c.4231A>G (p.Ser1411Gly)
c.3781A>G (p.Ser1261Gly)
c.2083A>G (p.Ser695Gly)
c.1900A>G (p.Ser634Gly)
c.4132A>G (p.Ser1378Gly)
c.4084A>G (p.Ser1362Gly)
c.3853A>G (p.Ser1285Gly)
c.3754A>G (p.Ser1252Gly)
c.2935A>G (p.Ser979Gly)
n.4486A>G
13g.51934887T>GCA388019305ATP7Bc.*1917A>C (n.*1917A>C)
c.*3011A>C (n.*3011A>C)
c.3646A>C (p.Ser1216Arg)
c.4267A>C (p.Ser1423Arg)
c.3934A>C (p.Ser1312Arg)
c.4015A>C (p.Ser1339Arg)
n.1590A>C
c.4033A>C (p.Ser1345Arg)
n.4406A>C
n.1133A>C
c.3202A>C (p.Ser1068Arg)
c.2977A>C (p.Ser993Arg)
c.4072A>C (p.Ser1358Arg)
c.2045A>C
c.*1368A>C (n.*1368A>C)
n.5011A>C
n.3612A>C
c.4123A>C (p.Ser1375Arg)
c.4171A>C (p.Ser1391Arg)
c.4231A>C (p.Ser1411Arg)
c.3781A>C (p.Ser1261Arg)
c.2083A>C (p.Ser695Arg)
c.1900A>C (p.Ser634Arg)
c.4132A>C (p.Ser1378Arg)
c.4084A>C (p.Ser1362Arg)
c.3853A>C (p.Ser1285Arg)
c.3754A>C (p.Ser1252Arg)
c.2935A>C (p.Ser979Arg)
n.4486A>C
13g.51934888G>ACA484024159ATP7Bc.*1916C>T (n.*1916C>T)
c.*3010C>T (n.*3010C>T)
c.3645C>T (p.Val1215=)
c.4266C>T (p.Val1422=)
c.3933C>T (p.Val1311=)
c.4014C>T (p.Val1338=)
n.1589C>T
c.4032C>T (p.Val1344=)
n.4405C>T
n.1132C>T
c.3201C>T (p.Val1067=)
c.2976C>T (p.Val992=)
c.4071C>T (p.Val1357=)
c.2044C>T
c.*1367C>T (n.*1367C>T)
n.5010C>T
n.3611C>T
c.4122C>T (p.Val1374=)
c.4170C>T (p.Val1390=)
c.4230C>T (p.Val1410=)
c.3780C>T (p.Val1260=)
c.2082C>T (p.Val694=)
c.1899C>T (p.Val633=)
c.4131C>T (p.Val1377=)
c.4083C>T (p.Val1361=)
c.3852C>T (p.Val1284=)
c.3753C>T (p.Val1251=)
c.2934C>T (p.Val978=)
n.4485C>T
13g.51934888G>CCA484024160ATP7Bc.*1916C>G (n.*1916C>G)
c.*3010C>G (n.*3010C>G)
c.3645C>G (p.Val1215=)
c.4266C>G (p.Val1422=)
c.3933C>G (p.Val1311=)
c.4014C>G (p.Val1338=)
n.1589C>G
c.4032C>G (p.Val1344=)
n.4405C>G
n.1132C>G
c.3201C>G (p.Val1067=)
c.2976C>G (p.Val992=)
c.4071C>G (p.Val1357=)
c.2044C>G
c.*1367C>G (n.*1367C>G)
n.5010C>G
n.3611C>G
c.4122C>G (p.Val1374=)
c.4170C>G (p.Val1390=)
c.4230C>G (p.Val1410=)
c.3780C>G (p.Val1260=)
c.2082C>G (p.Val694=)
c.1899C>G (p.Val633=)
c.4131C>G (p.Val1377=)
c.4083C>G (p.Val1361=)
c.3852C>G (p.Val1284=)
c.3753C>G (p.Val1251=)
c.2934C>G (p.Val978=)
n.4485C>G
13g.51934888G>TCA484024161ATP7Bc.*1916C>A (n.*1916C>A)
c.*3010C>A (n.*3010C>A)
c.3645C>A (p.Val1215=)
c.4266C>A (p.Val1422=)
c.3933C>A (p.Val1311=)
c.4014C>A (p.Val1338=)
n.1589C>A
c.4032C>A (p.Val1344=)
n.4405C>A
n.1132C>A
c.3201C>A (p.Val1067=)
c.2976C>A (p.Val992=)
c.4071C>A (p.Val1357=)
c.2044C>A
c.*1367C>A (n.*1367C>A)
n.5010C>A
n.3611C>A
c.4122C>A (p.Val1374=)
c.4170C>A (p.Val1390=)
c.4230C>A (p.Val1410=)
c.3780C>A (p.Val1260=)
c.2082C>A (p.Val694=)
c.1899C>A (p.Val633=)
c.4131C>A (p.Val1377=)
c.4083C>A (p.Val1361=)
c.3852C>A (p.Val1284=)
c.3753C>A (p.Val1251=)
c.2934C>A (p.Val978=)
n.4485C>A
13g.51934889A>CCA388019308ATP7Bc.*1915T>G (n.*1915T>G)
c.*3009T>G (n.*3009T>G)
c.3644T>G (p.Val1215Gly)
c.4265T>G (p.Val1422Gly)
c.3932T>G (p.Val1311Gly)
c.4013T>G (p.Val1338Gly)
n.1588T>G
c.4031T>G (p.Val1344Gly)
n.4404T>G
n.1131T>G
c.3200T>G (p.Val1067Gly)
c.2975T>G (p.Val992Gly)
c.4070T>G (p.Val1357Gly)
c.2043T>G
c.*1366T>G (n.*1366T>G)
n.5009T>G
n.3610T>G
c.4121T>G (p.Val1374Gly)
c.4169T>G (p.Val1390Gly)
c.4229T>G (p.Val1410Gly)
c.3779T>G (p.Val1260Gly)
c.2081T>G (p.Val694Gly)
c.1898T>G (p.Val633Gly)
c.4130T>G (p.Val1377Gly)
c.4082T>G (p.Val1361Gly)
c.3851T>G (p.Val1284Gly)
c.3752T>G (p.Val1251Gly)
c.2933T>G (p.Val978Gly)
n.4484T>G
13g.51934889A>GCA388019310ATP7Bc.*1915T>C (n.*1915T>C)
c.*3009T>C (n.*3009T>C)
c.3644T>C (p.Val1215Ala)
c.4265T>C (p.Val1422Ala)
c.3932T>C (p.Val1311Ala)
c.4013T>C (p.Val1338Ala)
n.1588T>C
c.4031T>C (p.Val1344Ala)
n.4404T>C
n.1131T>C
c.3200T>C (p.Val1067Ala)
c.2975T>C (p.Val992Ala)
c.4070T>C (p.Val1357Ala)
c.2043T>C
c.*1366T>C (n.*1366T>C)
n.5009T>C
n.3610T>C
c.4121T>C (p.Val1374Ala)
c.4169T>C (p.Val1390Ala)
c.4229T>C (p.Val1410Ala)
c.3779T>C (p.Val1260Ala)
c.2081T>C (p.Val694Ala)
c.1898T>C (p.Val633Ala)
c.4130T>C (p.Val1377Ala)
c.4082T>C (p.Val1361Ala)
c.3851T>C (p.Val1284Ala)
c.3752T>C (p.Val1251Ala)
c.2933T>C (p.Val978Ala)
n.4484T>C
13g.51934889A>TCA388019312ATP7Bc.*1915T>A (n.*1915T>A)
c.*3009T>A (n.*3009T>A)
c.3644T>A (p.Val1215Asp)
c.4265T>A (p.Val1422Asp)
c.3932T>A (p.Val1311Asp)
c.4013T>A (p.Val1338Asp)
n.1588T>A
c.4031T>A (p.Val1344Asp)
n.4404T>A
n.1131T>A
c.3200T>A (p.Val1067Asp)
c.2975T>A (p.Val992Asp)
c.4070T>A (p.Val1357Asp)
c.2043T>A
c.*1366T>A (n.*1366T>A)
n.5009T>A
n.3610T>A
c.4121T>A (p.Val1374Asp)
c.4169T>A (p.Val1390Asp)
c.4229T>A (p.Val1410Asp)
c.3779T>A (p.Val1260Asp)
c.2081T>A (p.Val694Asp)
c.1898T>A (p.Val633Asp)
c.4130T>A (p.Val1377Asp)
c.4082T>A (p.Val1361Asp)
c.3851T>A (p.Val1284Asp)
c.3752T>A (p.Val1251Asp)
c.2933T>A (p.Val978Asp)
n.4484T>A
13g.51934890C>ACA388019314ATP7Bc.*1914G>T (n.*1914G>T)
c.*3008G>T (n.*3008G>T)
c.3643G>T (p.Val1215Phe)
c.4264G>T (p.Val1422Phe)
c.3931G>T (p.Val1311Phe)
c.4012G>T (p.Val1338Phe)
n.1587G>T
c.4030G>T (p.Val1344Phe)
n.4403G>T
n.1130G>T
c.3199G>T (p.Val1067Phe)
c.2974G>T (p.Val992Phe)
c.4069G>T (p.Val1357Phe)
c.2042G>T
c.*1365G>T (n.*1365G>T)
n.5008G>T
n.3609G>T
c.4120G>T (p.Val1374Phe)
c.4168G>T (p.Val1390Phe)
c.4228G>T (p.Val1410Phe)
c.3778G>T (p.Val1260Phe)
c.2080G>T (p.Val694Phe)
c.1897G>T (p.Val633Phe)
c.4129G>T (p.Val1377Phe)
c.4081G>T (p.Val1361Phe)
c.3850G>T (p.Val1284Phe)
c.3751G>T (p.Val1251Phe)
c.2932G>T (p.Val978Phe)
n.4483G>T
 gnomAD v4 COSMIC
13g.51934890C>GCA388019316ATP7Bc.*1914G>C (n.*1914G>C)
c.*3008G>C (n.*3008G>C)
c.3643G>C (p.Val1215Leu)
c.4264G>C (p.Val1422Leu)
c.3931G>C (p.Val1311Leu)
c.4012G>C (p.Val1338Leu)
n.1587G>C
c.4030G>C (p.Val1344Leu)
n.4403G>C
n.1130G>C
c.3199G>C (p.Val1067Leu)
c.2974G>C (p.Val992Leu)
c.4069G>C (p.Val1357Leu)
c.2042G>C
c.*1365G>C (n.*1365G>C)
n.5008G>C
n.3609G>C
c.4120G>C (p.Val1374Leu)
c.4168G>C (p.Val1390Leu)
c.4228G>C (p.Val1410Leu)
c.3778G>C (p.Val1260Leu)
c.2080G>C (p.Val694Leu)
c.1897G>C (p.Val633Leu)
c.4129G>C (p.Val1377Leu)
c.4081G>C (p.Val1361Leu)
c.3850G>C (p.Val1284Leu)
c.3751G>C (p.Val1251Leu)
c.2932G>C (p.Val978Leu)
n.4483G>C
13g.51934890C>TCA388019318ATP7Bc.*1914G>A (n.*1914G>A)
c.*3008G>A (n.*3008G>A)
c.3643G>A (p.Val1215Ile)
c.4264G>A (p.Val1422Ile)
c.3931G>A (p.Val1311Ile)
c.4012G>A (p.Val1338Ile)
n.1587G>A
c.4030G>A (p.Val1344Ile)
n.4403G>A
n.1130G>A
c.3199G>A (p.Val1067Ile)
c.2974G>A (p.Val992Ile)
c.4069G>A (p.Val1357Ile)
c.2042G>A
c.*1365G>A (n.*1365G>A)
n.5008G>A
n.3609G>A
c.4120G>A (p.Val1374Ile)
c.4168G>A (p.Val1390Ile)
c.4228G>A (p.Val1410Ile)
c.3778G>A (p.Val1260Ile)
c.2080G>A (p.Val694Ile)
c.1897G>A (p.Val633Ile)
c.4129G>A (p.Val1377Ile)
c.4081G>A (p.Val1361Ile)
c.3850G>A (p.Val1284Ile)
c.3751G>A (p.Val1251Ile)
c.2932G>A (p.Val978Ile)
n.4483G>A
13g.51934891C>ACA388019321ATP7Bc.*1913G>T (n.*1913G>T)
c.*3007G>T (n.*3007G>T)
c.3642G>T (p.Gln1214His)
c.4263G>T (p.Gln1421His)
c.3930G>T (p.Gln1310His)
c.4011G>T (p.Gln1337His)
n.1586G>T
c.4029G>T (p.Gln1343His)
n.4402G>T
n.1129G>T
c.3198G>T (p.Gln1066His)
c.2973G>T (p.Gln991His)
c.4068G>T (p.Gln1356His)
c.2041G>T
c.*1364G>T (n.*1364G>T)
n.5007G>T
n.3608G>T
c.4119G>T (p.Gln1373His)
c.4167G>T (p.Gln1389His)
c.4227G>T (p.Gln1409His)
c.3777G>T (p.Gln1259His)
c.2079G>T (p.Gln693His)
c.1896G>T (p.Gln632His)
c.4128G>T (p.Gln1376His)
c.4080G>T (p.Gln1360His)
c.3849G>T (p.Gln1283His)
c.3750G>T (p.Gln1250His)
c.2931G>T (p.Gln977His)
n.4482G>T
13g.51934891C=CA2091550369ATP7Bc.*1913G= (n.*1913G=)
c.*3007G= (n.*3007G=)
c.3642G= (p.Gln1214=)
c.4263G= (p.Gln1421=)
c.3930G= (p.Gln1310=)
c.4011G= (p.Gln1337=)
n.1586G=
c.4029G= (p.Gln1343=)
n.4402G=
n.1129G=
c.3198G= (p.Gln1066=)
c.2973G= (p.Gln991=)
c.4068G= (p.Gln1356=)
c.2041G=
c.*1364G= (n.*1364G=)
n.5007G=
n.3608G=
c.4119G= (p.Gln1373=)
c.4167G= (p.Gln1389=)
c.4227G= (p.Gln1409=)
c.3777G= (p.Gln1259=)
c.2079G= (p.Gln693=)
c.1896G= (p.Gln632=)
c.4128G= (p.Gln1376=)
c.4080G= (p.Gln1360=)
c.3849G= (p.Gln1283=)
c.3750G= (p.Gln1250=)
c.2931G= (p.Gln977=)
n.4482G=
13g.51934891C>GCA388019323ATP7Bc.*1913G>C (n.*1913G>C)
c.*3007G>C (n.*3007G>C)
c.3642G>C (p.Gln1214His)
c.4263G>C (p.Gln1421His)
c.3930G>C (p.Gln1310His)
c.4011G>C (p.Gln1337His)
n.1586G>C
c.4029G>C (p.Gln1343His)
n.4402G>C
n.1129G>C
c.3198G>C (p.Gln1066His)
c.2973G>C (p.Gln991His)
c.4068G>C (p.Gln1356His)
c.2041G>C
c.*1364G>C (n.*1364G>C)
n.5007G>C
n.3608G>C
c.4119G>C (p.Gln1373His)
c.4167G>C (p.Gln1389His)
c.4227G>C (p.Gln1409His)
c.3777G>C (p.Gln1259His)
c.2079G>C (p.Gln693His)
c.1896G>C (p.Gln632His)
c.4128G>C (p.Gln1376His)
c.4080G>C (p.Gln1360His)
c.3849G>C (p.Gln1283His)
c.3750G>C (p.Gln1250His)
c.2931G>C (p.Gln977His)
n.4482G>C
13g.51934891C>TCA6988443ATP7Bc.*1913G>A (n.*1913G>A)
c.*3007G>A (n.*3007G>A)
c.3642G>A (p.Gln1214=)
c.4263G>A (p.Gln1421=)
c.3930G>A (p.Gln1310=)
c.4011G>A (p.Gln1337=)
n.1586G>A
c.4029G>A (p.Gln1343=)
n.4402G>A
n.1129G>A
c.3198G>A (p.Gln1066=)
c.2973G>A (p.Gln991=)
c.4068G>A (p.Gln1356=)
c.2041G>A
c.*1364G>A (n.*1364G>A)
n.5007G>A
n.3608G>A
c.4119G>A (p.Gln1373=)
c.4167G>A (p.Gln1389=)
c.4227G>A (p.Gln1409=)
c.3777G>A (p.Gln1259=)
c.2079G>A (p.Gln693=)
c.1896G>A (p.Gln632=)
c.4128G>A (p.Gln1376=)
c.4080G>A (p.Gln1360=)
c.3849G>A (p.Gln1283=)
c.3750G>A (p.Gln1250=)
c.2931G>A (p.Gln977=)
n.4482G>A
 ClinVar dbSNP ExAC gnomAD v2
13g.51934892T>ACA388019325ATP7Bc.*1912A>T (n.*1912A>T)
c.*3006A>T (n.*3006A>T)
c.3641A>T (p.Gln1214Leu)
c.4262A>T (p.Gln1421Leu)
c.3929A>T (p.Gln1310Leu)
c.4010A>T (p.Gln1337Leu)
n.1585A>T
c.4028A>T (p.Gln1343Leu)
n.4401A>T
n.1128A>T
c.3197A>T (p.Gln1066Leu)
c.2972A>T (p.Gln991Leu)
c.4067A>T (p.Gln1356Leu)
c.2040A>T
c.*1363A>T (n.*1363A>T)
n.5006A>T
n.3607A>T
c.4118A>T (p.Gln1373Leu)
c.4166A>T (p.Gln1389Leu)
c.4226A>T (p.Gln1409Leu)
c.3776A>T (p.Gln1259Leu)
c.2078A>T (p.Gln693Leu)
c.1895A>T (p.Gln632Leu)
c.4127A>T (p.Gln1376Leu)
c.4079A>T (p.Gln1360Leu)
c.3848A>T (p.Gln1283Leu)
c.3749A>T (p.Gln1250Leu)
c.2930A>T (p.Gln977Leu)
n.4481A>T
13g.51934892T>CCA388019328ATP7Bc.*1912A>G (n.*1912A>G)
c.*3006A>G (n.*3006A>G)
c.3641A>G (p.Gln1214Arg)
c.4262A>G (p.Gln1421Arg)
c.3929A>G (p.Gln1310Arg)
c.4010A>G (p.Gln1337Arg)
n.1585A>G
c.4028A>G (p.Gln1343Arg)
n.4401A>G
n.1128A>G
c.3197A>G (p.Gln1066Arg)
c.2972A>G (p.Gln991Arg)
c.4067A>G (p.Gln1356Arg)
c.2040A>G
c.*1363A>G (n.*1363A>G)
n.5006A>G
n.3607A>G
c.4118A>G (p.Gln1373Arg)
c.4166A>G (p.Gln1389Arg)
c.4226A>G (p.Gln1409Arg)
c.3776A>G (p.Gln1259Arg)
c.2078A>G (p.Gln693Arg)
c.1895A>G (p.Gln632Arg)
c.4127A>G (p.Gln1376Arg)
c.4079A>G (p.Gln1360Arg)
c.3848A>G (p.Gln1283Arg)
c.3749A>G (p.Gln1250Arg)
c.2930A>G (p.Gln977Arg)
n.4481A>G
 gnomAD v4
13g.51934892T>GCA388019326ATP7Bc.*1912A>C (n.*1912A>C)
c.*3006A>C (n.*3006A>C)
c.3641A>C (p.Gln1214Pro)
c.4262A>C (p.Gln1421Pro)
c.3929A>C (p.Gln1310Pro)
c.4010A>C (p.Gln1337Pro)
n.1585A>C
c.4028A>C (p.Gln1343Pro)
n.4401A>C
n.1128A>C
c.3197A>C (p.Gln1066Pro)
c.2972A>C (p.Gln991Pro)
c.4067A>C (p.Gln1356Pro)
c.2040A>C
c.*1363A>C (n.*1363A>C)
n.5006A>C
n.3607A>C
c.4118A>C (p.Gln1373Pro)
c.4166A>C (p.Gln1389Pro)
c.4226A>C (p.Gln1409Pro)
c.3776A>C (p.Gln1259Pro)
c.2078A>C (p.Gln693Pro)
c.1895A>C (p.Gln632Pro)
c.4127A>C (p.Gln1376Pro)
c.4079A>C (p.Gln1360Pro)
c.3848A>C (p.Gln1283Pro)
c.3749A>C (p.Gln1250Pro)
c.2930A>C (p.Gln977Pro)
n.4481A>C
13g.51934893G>ACA388019330ATP7Bc.*1911C>T (n.*1911C>T)
c.*3005C>T (n.*3005C>T)
c.3640C>T (p.Gln1214Ter)
c.4261C>T (p.Gln1421Ter)
c.3928C>T (p.Gln1310Ter)
c.4009C>T (p.Gln1337Ter)
n.1584C>T
c.4027C>T (p.Gln1343Ter)
n.4400C>T
n.1127C>T
c.3196C>T (p.Gln1066Ter)
c.2971C>T (p.Gln991Ter)
c.4066C>T (p.Gln1356Ter)
c.2039C>T
c.*1362C>T (n.*1362C>T)
n.5005C>T
n.3606C>T
c.4117C>T (p.Gln1373Ter)
c.4165C>T (p.Gln1389Ter)
c.4225C>T (p.Gln1409Ter)
c.3775C>T (p.Gln1259Ter)
c.2077C>T (p.Gln693Ter)
c.1894C>T (p.Gln632Ter)
c.4126C>T (p.Gln1376Ter)
c.4078C>T (p.Gln1360Ter)
c.3847C>T (p.Gln1283Ter)
c.3748C>T (p.Gln1250Ter)
c.2929C>T (p.Gln977Ter)
n.4480C>T
 gnomAD v4
13g.51934893G>CCA6988444ATP7Bc.*1911C>G (n.*1911C>G)
c.*3005C>G (n.*3005C>G)
c.3640C>G (p.Gln1214Glu)
c.4261C>G (p.Gln1421Glu)
c.3928C>G (p.Gln1310Glu)
c.4009C>G (p.Gln1337Glu)
n.1584C>G
c.4027C>G (p.Gln1343Glu)
n.4400C>G
n.1127C>G
c.3196C>G (p.Gln1066Glu)
c.2971C>G (p.Gln991Glu)
c.4066C>G (p.Gln1356Glu)
c.2039C>G
c.*1362C>G (n.*1362C>G)
n.5005C>G
n.3606C>G
c.4117C>G (p.Gln1373Glu)
c.4165C>G (p.Gln1389Glu)
c.4225C>G (p.Gln1409Glu)
c.3775C>G (p.Gln1259Glu)
c.2077C>G (p.Gln693Glu)
c.1894C>G (p.Gln632Glu)
c.4126C>G (p.Gln1376Glu)
c.4078C>G (p.Gln1360Glu)
c.3847C>G (p.Gln1283Glu)
c.3748C>G (p.Gln1250Glu)
c.2929C>G (p.Gln977Glu)
n.4480C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934893G=CA2091550371ATP7Bc.*1911C= (n.*1911C=)
c.*3005C= (n.*3005C=)
c.3640C= (p.Gln1214=)
c.4261C= (p.Gln1421=)
c.3928C= (p.Gln1310=)
c.4009C= (p.Gln1337=)
n.1584C=
c.4027C= (p.Gln1343=)
n.4400C=
n.1127C=
c.3196C= (p.Gln1066=)
c.2971C= (p.Gln991=)
c.4066C= (p.Gln1356=)
c.2039C=
c.*1362C= (n.*1362C=)
n.5005C=
n.3606C=
c.4117C= (p.Gln1373=)
c.4165C= (p.Gln1389=)
c.4225C= (p.Gln1409=)
c.3775C= (p.Gln1259=)
c.2077C= (p.Gln693=)
c.1894C= (p.Gln632=)
c.4126C= (p.Gln1376=)
c.4078C= (p.Gln1360=)
c.3847C= (p.Gln1283=)
c.3748C= (p.Gln1250=)
c.2929C= (p.Gln977=)
n.4480C=
13g.51934893G>TCA388019333ATP7Bc.*1911C>A (n.*1911C>A)
c.*3005C>A (n.*3005C>A)
c.3640C>A (p.Gln1214Lys)
c.4261C>A (p.Gln1421Lys)
c.3928C>A (p.Gln1310Lys)
c.4009C>A (p.Gln1337Lys)
n.1584C>A
c.4027C>A (p.Gln1343Lys)
n.4400C>A
n.1127C>A
c.3196C>A (p.Gln1066Lys)
c.2971C>A (p.Gln991Lys)
c.4066C>A (p.Gln1356Lys)
c.2039C>A
c.*1362C>A (n.*1362C>A)
n.5005C>A
n.3606C>A
c.4117C>A (p.Gln1373Lys)
c.4165C>A (p.Gln1389Lys)
c.4225C>A (p.Gln1409Lys)
c.3775C>A (p.Gln1259Lys)
c.2077C>A (p.Gln693Lys)
c.1894C>A (p.Gln632Lys)
c.4126C>A (p.Gln1376Lys)
c.4078C>A (p.Gln1360Lys)
c.3847C>A (p.Gln1283Lys)
c.3748C>A (p.Gln1250Lys)
c.2929C>A (p.Gln977Lys)
n.4480C>A
13g.51934894G>ACA484024162ATP7Bc.*1910C>T (n.*1910C>T)
c.*3004C>T (n.*3004C>T)
c.3639C>T (p.Asp1213=)
c.4260C>T (p.Asp1420=)
c.3927C>T (p.Asp1309=)
c.4008C>T (p.Asp1336=)
n.1583C>T
c.4026C>T (p.Asp1342=)
n.4399C>T
n.1126C>T
c.3195C>T (p.Asp1065=)
c.2970C>T (p.Asp990=)
c.4065C>T (p.Asp1355=)
c.2038C>T
c.*1361C>T (n.*1361C>T)
n.5004C>T
n.3605C>T
c.4116C>T (p.Asp1372=)
c.4164C>T (p.Asp1388=)
c.4224C>T (p.Asp1408=)
c.3774C>T (p.Asp1258=)
c.2076C>T (p.Asp692=)
c.1893C>T (p.Asp631=)
c.4125C>T (p.Asp1375=)
c.4077C>T (p.Asp1359=)
c.3846C>T (p.Asp1282=)
c.3747C>T (p.Asp1249=)
c.2928C>T (p.Asp976=)
n.4479C>T
13g.51934894G>CCA388019335ATP7Bc.*1910C>G (n.*1910C>G)
c.*3004C>G (n.*3004C>G)
c.3639C>G (p.Asp1213Glu)
c.4260C>G (p.Asp1420Glu)
c.3927C>G (p.Asp1309Glu)
c.4008C>G (p.Asp1336Glu)
n.1583C>G
c.4026C>G (p.Asp1342Glu)
n.4399C>G
n.1126C>G
c.3195C>G (p.Asp1065Glu)
c.2970C>G (p.Asp990Glu)
c.4065C>G (p.Asp1355Glu)
c.2038C>G
c.*1361C>G (n.*1361C>G)
n.5004C>G
n.3605C>G
c.4116C>G (p.Asp1372Glu)
c.4164C>G (p.Asp1388Glu)
c.4224C>G (p.Asp1408Glu)
c.3774C>G (p.Asp1258Glu)
c.2076C>G (p.Asp692Glu)
c.1893C>G (p.Asp631Glu)
c.4125C>G (p.Asp1375Glu)
c.4077C>G (p.Asp1359Glu)
c.3846C>G (p.Asp1282Glu)
c.3747C>G (p.Asp1249Glu)
c.2928C>G (p.Asp976Glu)
n.4479C>G
 gnomAD v4
13g.51934894G>TCA388019337ATP7Bc.*1910C>A (n.*1910C>A)
c.*3004C>A (n.*3004C>A)
c.3639C>A (p.Asp1213Glu)
c.4260C>A (p.Asp1420Glu)
c.3927C>A (p.Asp1309Glu)
c.4008C>A (p.Asp1336Glu)
n.1583C>A
c.4026C>A (p.Asp1342Glu)
n.4399C>A
n.1126C>A
c.3195C>A (p.Asp1065Glu)
c.2970C>A (p.Asp990Glu)
c.4065C>A (p.Asp1355Glu)
c.2038C>A
c.*1361C>A (n.*1361C>A)
n.5004C>A
n.3605C>A
c.4116C>A (p.Asp1372Glu)
c.4164C>A (p.Asp1388Glu)
c.4224C>A (p.Asp1408Glu)
c.3774C>A (p.Asp1258Glu)
c.2076C>A (p.Asp692Glu)
c.1893C>A (p.Asp631Glu)
c.4125C>A (p.Asp1375Glu)
c.4077C>A (p.Asp1359Glu)
c.3846C>A (p.Asp1282Glu)
c.3747C>A (p.Asp1249Glu)
c.2928C>A (p.Asp976Glu)
n.4479C>A
13g.51934895T>ACA388019343ATP7Bc.*1909A>T (n.*1909A>T)
c.*3003A>T (n.*3003A>T)
c.3638A>T (p.Asp1213Val)
c.4259A>T (p.Asp1420Val)
c.3926A>T (p.Asp1309Val)
c.4007A>T (p.Asp1336Val)
n.1582A>T
c.4025A>T (p.Asp1342Val)
n.4398A>T
n.1125A>T
c.3194A>T (p.Asp1065Val)
c.2969A>T (p.Asp990Val)
c.4064A>T (p.Asp1355Val)
c.2037A>T
c.*1360A>T (n.*1360A>T)
n.5003A>T
n.3604A>T
c.4115A>T (p.Asp1372Val)
c.4163A>T (p.Asp1388Val)
c.4223A>T (p.Asp1408Val)
c.3773A>T (p.Asp1258Val)
c.2075A>T (p.Asp692Val)
c.1892A>T (p.Asp631Val)
c.4124A>T (p.Asp1375Val)
c.4076A>T (p.Asp1359Val)
c.3845A>T (p.Asp1282Val)
c.3746A>T (p.Asp1249Val)
c.2927A>T (p.Asp976Val)
n.4478A>T
13g.51934895T>CCA388019340ATP7Bc.*1909A>G (n.*1909A>G)
c.*3003A>G (n.*3003A>G)
c.3638A>G (p.Asp1213Gly)
c.4259A>G (p.Asp1420Gly)
c.3926A>G (p.Asp1309Gly)
c.4007A>G (p.Asp1336Gly)
n.1582A>G
c.4025A>G (p.Asp1342Gly)
n.4398A>G
n.1125A>G
c.3194A>G (p.Asp1065Gly)
c.2969A>G (p.Asp990Gly)
c.4064A>G (p.Asp1355Gly)
c.2037A>G
c.*1360A>G (n.*1360A>G)
n.5003A>G
n.3604A>G
c.4115A>G (p.Asp1372Gly)
c.4163A>G (p.Asp1388Gly)
c.4223A>G (p.Asp1408Gly)
c.3773A>G (p.Asp1258Gly)
c.2075A>G (p.Asp692Gly)
c.1892A>G (p.Asp631Gly)
c.4124A>G (p.Asp1375Gly)
c.4076A>G (p.Asp1359Gly)
c.3845A>G (p.Asp1282Gly)
c.3746A>G (p.Asp1249Gly)
c.2927A>G (p.Asp976Gly)
n.4478A>G
13g.51934895T>GCA388019339ATP7Bc.*1909A>C (n.*1909A>C)
c.*3003A>C (n.*3003A>C)
c.3638A>C (p.Asp1213Ala)
c.4259A>C (p.Asp1420Ala)
c.3926A>C (p.Asp1309Ala)
c.4007A>C (p.Asp1336Ala)
n.1582A>C
c.4025A>C (p.Asp1342Ala)
n.4398A>C
n.1125A>C
c.3194A>C (p.Asp1065Ala)
c.2969A>C (p.Asp990Ala)
c.4064A>C (p.Asp1355Ala)
c.2037A>C
c.*1360A>C (n.*1360A>C)
n.5003A>C
n.3604A>C
c.4115A>C (p.Asp1372Ala)
c.4163A>C (p.Asp1388Ala)
c.4223A>C (p.Asp1408Ala)
c.3773A>C (p.Asp1258Ala)
c.2075A>C (p.Asp692Ala)
c.1892A>C (p.Asp631Ala)
c.4124A>C (p.Asp1375Ala)
c.4076A>C (p.Asp1359Ala)
c.3845A>C (p.Asp1282Ala)
c.3746A>C (p.Asp1249Ala)
c.2927A>C (p.Asp976Ala)
n.4478A>C
13g.51934895T=CA2091550374ATP7Bc.*1909A= (n.*1909A=)
c.*3003A= (n.*3003A=)
c.3638A= (p.Asp1213=)
c.4259A= (p.Asp1420=)
c.3926A= (p.Asp1309=)
c.4007A= (p.Asp1336=)
n.1582A=
c.4025A= (p.Asp1342=)
n.4398A=
n.1125A=
c.3194A= (p.Asp1065=)
c.2969A= (p.Asp990=)
c.4064A= (p.Asp1355=)
c.2037A=
c.*1360A= (n.*1360A=)
n.5003A=
n.3604A=
c.4115A= (p.Asp1372=)
c.4163A= (p.Asp1388=)
c.4223A= (p.Asp1408=)
c.3773A= (p.Asp1258=)
c.2075A= (p.Asp692=)
c.1892A= (p.Asp631=)
c.4124A= (p.Asp1375=)
c.4076A= (p.Asp1359=)
c.3845A= (p.Asp1282=)
c.3746A= (p.Asp1249=)
c.2927A= (p.Asp976=)
n.4478A=
13g.51934896C>ACA388019344ATP7Bc.*1908G>T (n.*1908G>T)
c.*3002G>T (n.*3002G>T)
c.3637G>T (p.Asp1213Tyr)
c.4258G>T (p.Asp1420Tyr)
c.3925G>T (p.Asp1309Tyr)
c.4006G>T (p.Asp1336Tyr)
n.1581G>T
c.4024G>T (p.Asp1342Tyr)
n.4397G>T
n.1124G>T
c.3193G>T (p.Asp1065Tyr)
c.2968G>T (p.Asp990Tyr)
c.4063G>T (p.Asp1355Tyr)
c.2036G>T
c.*1359G>T (n.*1359G>T)
n.5002G>T
n.3603G>T
c.4114G>T (p.Asp1372Tyr)
c.4162G>T (p.Asp1388Tyr)
c.4222G>T (p.Asp1408Tyr)
c.3772G>T (p.Asp1258Tyr)
c.2074G>T (p.Asp692Tyr)
c.1891G>T (p.Asp631Tyr)
c.4123G>T (p.Asp1375Tyr)
c.4075G>T (p.Asp1359Tyr)
c.3844G>T (p.Asp1282Tyr)
c.3745G>T (p.Asp1249Tyr)
c.2926G>T (p.Asp976Tyr)
n.4477G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51934896C=CA2091550377ATP7Bc.*1908G= (n.*1908G=)
c.*3002G= (n.*3002G=)
c.3637G= (p.Asp1213=)
c.4258G= (p.Asp1420=)
c.3925G= (p.Asp1309=)
c.4006G= (p.Asp1336=)
n.1581G=
c.4024G= (p.Asp1342=)
n.4397G=
n.1124G=
c.3193G= (p.Asp1065=)
c.2968G= (p.Asp990=)
c.4063G= (p.Asp1355=)
c.2036G=
c.*1359G= (n.*1359G=)
n.5002G=
n.3603G=
c.4114G= (p.Asp1372=)
c.4162G= (p.Asp1388=)
c.4222G= (p.Asp1408=)
c.3772G= (p.Asp1258=)
c.2074G= (p.Asp692=)
c.1891G= (p.Asp631=)
c.4123G= (p.Asp1375=)
c.4075G= (p.Asp1359=)
c.3844G= (p.Asp1282=)
c.3745G= (p.Asp1249=)
c.2926G= (p.Asp976=)
n.4477G=
13g.51934896C>GCA388019346ATP7Bc.*1908G>C (n.*1908G>C)
c.*3002G>C (n.*3002G>C)
c.3637G>C (p.Asp1213His)
c.4258G>C (p.Asp1420His)
c.3925G>C (p.Asp1309His)
c.4006G>C (p.Asp1336His)
n.1581G>C
c.4024G>C (p.Asp1342His)
n.4397G>C
n.1124G>C
c.3193G>C (p.Asp1065His)
c.2968G>C (p.Asp990His)
c.4063G>C (p.Asp1355His)
c.2036G>C
c.*1359G>C (n.*1359G>C)
n.5002G>C
n.3603G>C
c.4114G>C (p.Asp1372His)
c.4162G>C (p.Asp1388His)
c.4222G>C (p.Asp1408His)
c.3772G>C (p.Asp1258His)
c.2074G>C (p.Asp692His)
c.1891G>C (p.Asp631His)
c.4123G>C (p.Asp1375His)
c.4075G>C (p.Asp1359His)
c.3844G>C (p.Asp1282His)
c.3745G>C (p.Asp1249His)
c.2926G>C (p.Asp976His)
n.4477G>C
13g.51934896C>TCA388019348ATP7Bc.*1908G>A (n.*1908G>A)
c.*3002G>A (n.*3002G>A)
c.3637G>A (p.Asp1213Asn)
c.4258G>A (p.Asp1420Asn)
c.3925G>A (p.Asp1309Asn)
c.4006G>A (p.Asp1336Asn)
n.1581G>A
c.4024G>A (p.Asp1342Asn)
n.4397G>A
n.1124G>A
c.3193G>A (p.Asp1065Asn)
c.2968G>A (p.Asp990Asn)
c.4063G>A (p.Asp1355Asn)
c.2036G>A
c.*1359G>A (n.*1359G>A)
n.5002G>A
n.3603G>A
c.4114G>A (p.Asp1372Asn)
c.4162G>A (p.Asp1388Asn)
c.4222G>A (p.Asp1408Asn)
c.3772G>A (p.Asp1258Asn)
c.2074G>A (p.Asp692Asn)
c.1891G>A (p.Asp631Asn)
c.4123G>A (p.Asp1375Asn)
c.4075G>A (p.Asp1359Asn)
c.3844G>A (p.Asp1282Asn)
c.3745G>A (p.Asp1249Asn)
c.2926G>A (p.Asp976Asn)
n.4477G>A
13g.51934898dupCA2091550376ATP7Bc.*1908dup (n.*1908dup)
c.*3002dup (n.*3002dup)
c.3637dup (p.Asp1213GlyfsTer29)
c.4258dup (p.Asp1420GlyfsTer29)
c.3925dup (p.Asp1309GlyfsTer29)
c.4006dup (p.Asp1336GlyfsTer29)
n.1581dup
c.4024dup (p.Asp1342GlyfsTer29)
n.4397dup
n.1124dup
c.3193dup (p.Asp1065GlyfsTer29)
c.2968dup (p.Asp990GlyfsTer29)
c.4063dup (p.Asp1355GlyfsTer29)
c.2036dup
c.*1359dup (n.*1359dup)
n.5002dup
n.3603dup
c.4114dup (p.Asp1372GlyfsTer29)
c.4162dup (p.Asp1388GlyfsTer29)
c.4222dup (p.Asp1408GlyfsTer29)
c.3772dup (p.Asp1258GlyfsTer29)
c.2074dup (p.Asp692GlyfsTer29)
c.1891dup (p.Asp631GlyfsTer29)
c.4123dup (p.Asp1375GlyfsTer29)
c.4075dup (p.Asp1359GlyfsTer29)
c.3844dup (p.Asp1282GlyfsTer29)
c.3745dup (p.Asp1249GlyfsTer29)
c.2926dup (p.Asp976GlyfsTer29)
n.4477dup
 ClinVar dbSNP gnomAD v4
13g.51934897C>ACA388019351ATP7Bc.*1907G>T (n.*1907G>T)
c.*3001G>T (n.*3001G>T)
c.3636G>T (p.Trp1212Cys)
c.4257G>T (p.Trp1419Cys)
c.3924G>T (p.Trp1308Cys)
c.4005G>T (p.Trp1335Cys)
n.1580G>T
c.4023G>T (p.Trp1341Cys)
n.4396G>T
n.1123G>T
c.3192G>T (p.Trp1064Cys)
c.2967G>T (p.Trp989Cys)
c.4062G>T (p.Trp1354Cys)
c.2035G>T
c.*1358G>T (n.*1358G>T)
n.5001G>T
n.3602G>T
c.4113G>T (p.Trp1371Cys)
c.4161G>T (p.Trp1387Cys)
c.4221G>T (p.Trp1407Cys)
c.3771G>T (p.Trp1257Cys)
c.2073G>T (p.Trp691Cys)
c.1890G>T (p.Trp630Cys)
c.4122G>T (p.Trp1374Cys)
c.4074G>T (p.Trp1358Cys)
c.3843G>T (p.Trp1281Cys)
c.3744G>T (p.Trp1248Cys)
c.2925G>T (p.Trp975Cys)
n.4476G>T
13g.51934897C>GCA388019353ATP7Bc.*1907G>C (n.*1907G>C)
c.*3001G>C (n.*3001G>C)
c.3636G>C (p.Trp1212Cys)
c.4257G>C (p.Trp1419Cys)
c.3924G>C (p.Trp1308Cys)
c.4005G>C (p.Trp1335Cys)
n.1580G>C
c.4023G>C (p.Trp1341Cys)
n.4396G>C
n.1123G>C
c.3192G>C (p.Trp1064Cys)
c.2967G>C (p.Trp989Cys)
c.4062G>C (p.Trp1354Cys)
c.2035G>C
c.*1358G>C (n.*1358G>C)
n.5001G>C
n.3602G>C
c.4113G>C (p.Trp1371Cys)
c.4161G>C (p.Trp1387Cys)
c.4221G>C (p.Trp1407Cys)
c.3771G>C (p.Trp1257Cys)
c.2073G>C (p.Trp691Cys)
c.1890G>C (p.Trp630Cys)
c.4122G>C (p.Trp1374Cys)
c.4074G>C (p.Trp1358Cys)
c.3843G>C (p.Trp1281Cys)
c.3744G>C (p.Trp1248Cys)
c.2925G>C (p.Trp975Cys)
n.4476G>C
13g.51934897C>TCA388019355ATP7Bc.*1907G>A (n.*1907G>A)
c.*3001G>A (n.*3001G>A)
c.3636G>A (p.Trp1212Ter)
c.4257G>A (p.Trp1419Ter)
c.3924G>A (p.Trp1308Ter)
c.4005G>A (p.Trp1335Ter)
n.1580G>A
c.4023G>A (p.Trp1341Ter)
n.4396G>A
n.1123G>A
c.3192G>A (p.Trp1064Ter)
c.2967G>A (p.Trp989Ter)
c.4062G>A (p.Trp1354Ter)
c.2035G>A
c.*1358G>A (n.*1358G>A)
n.5001G>A
n.3602G>A
c.4113G>A (p.Trp1371Ter)
c.4161G>A (p.Trp1387Ter)
c.4221G>A (p.Trp1407Ter)
c.3771G>A (p.Trp1257Ter)
c.2073G>A (p.Trp691Ter)
c.1890G>A (p.Trp630Ter)
c.4122G>A (p.Trp1374Ter)
c.4074G>A (p.Trp1358Ter)
c.3843G>A (p.Trp1281Ter)
c.3744G>A (p.Trp1248Ter)
c.2925G>A (p.Trp975Ter)
n.4476G>A
13g.51934898C>ACA388019361ATP7Bc.*1906G>T (n.*1906G>T)
c.*3000G>T (n.*3000G>T)
c.3635G>T (p.Trp1212Leu)
c.4256G>T (p.Trp1419Leu)
c.3923G>T (p.Trp1308Leu)
c.4004G>T (p.Trp1335Leu)
n.1579G>T
c.4022G>T (p.Trp1341Leu)
n.4395G>T
n.1122G>T
c.3191G>T (p.Trp1064Leu)
c.2966G>T (p.Trp989Leu)
c.4061G>T (p.Trp1354Leu)
c.2034G>T
c.*1357G>T (n.*1357G>T)
n.5000G>T
n.3601G>T
c.4112G>T (p.Trp1371Leu)
c.4160G>T (p.Trp1387Leu)
c.4220G>T (p.Trp1407Leu)
c.3770G>T (p.Trp1257Leu)
c.2072G>T (p.Trp691Leu)
c.1889G>T (p.Trp630Leu)
c.4121G>T (p.Trp1374Leu)
c.4073G>T (p.Trp1358Leu)
c.3842G>T (p.Trp1281Leu)
c.3743G>T (p.Trp1248Leu)
c.2924G>T (p.Trp975Leu)
n.4475G>T
13g.51934898C>GCA388019358ATP7Bc.*1906G>C (n.*1906G>C)
c.*3000G>C (n.*3000G>C)
c.3635G>C (p.Trp1212Ser)
c.4256G>C (p.Trp1419Ser)
c.3923G>C (p.Trp1308Ser)
c.4004G>C (p.Trp1335Ser)
n.1579G>C
c.4022G>C (p.Trp1341Ser)
n.4395G>C
n.1122G>C
c.3191G>C (p.Trp1064Ser)
c.2966G>C (p.Trp989Ser)
c.4061G>C (p.Trp1354Ser)
c.2034G>C
c.*1357G>C (n.*1357G>C)
n.5000G>C
n.3601G>C
c.4112G>C (p.Trp1371Ser)
c.4160G>C (p.Trp1387Ser)
c.4220G>C (p.Trp1407Ser)
c.3770G>C (p.Trp1257Ser)
c.2072G>C (p.Trp691Ser)
c.1889G>C (p.Trp630Ser)
c.4121G>C (p.Trp1374Ser)
c.4073G>C (p.Trp1358Ser)
c.3842G>C (p.Trp1281Ser)
c.3743G>C (p.Trp1248Ser)
c.2924G>C (p.Trp975Ser)
n.4475G>C
13g.51934898C>TCA388019359ATP7Bc.*1906G>A (n.*1906G>A)
c.*3000G>A (n.*3000G>A)
c.3635G>A (p.Trp1212Ter)
c.4256G>A (p.Trp1419Ter)
c.3923G>A (p.Trp1308Ter)
c.4004G>A (p.Trp1335Ter)
n.1579G>A
c.4022G>A (p.Trp1341Ter)
n.4395G>A
n.1122G>A
c.3191G>A (p.Trp1064Ter)
c.2966G>A (p.Trp989Ter)
c.4061G>A (p.Trp1354Ter)
c.2034G>A
c.*1357G>A (n.*1357G>A)
n.5000G>A
n.3601G>A
c.4112G>A (p.Trp1371Ter)
c.4160G>A (p.Trp1387Ter)
c.4220G>A (p.Trp1407Ter)
c.3770G>A (p.Trp1257Ter)
c.2072G>A (p.Trp691Ter)
c.1889G>A (p.Trp630Ter)
c.4121G>A (p.Trp1374Ter)
c.4073G>A (p.Trp1358Ter)
c.3842G>A (p.Trp1281Ter)
c.3743G>A (p.Trp1248Ter)
c.2924G>A (p.Trp975Ter)
n.4475G>A
13g.51934899A>CCA388019364ATP7Bc.*1905T>G (n.*1905T>G)
c.*2999T>G (n.*2999T>G)
c.3634T>G (p.Trp1212Gly)
c.4255T>G (p.Trp1419Gly)
c.3922T>G (p.Trp1308Gly)
c.4003T>G (p.Trp1335Gly)
n.1578T>G
c.4021T>G (p.Trp1341Gly)
n.4394T>G
n.1121T>G
c.3190T>G (p.Trp1064Gly)
c.2965T>G (p.Trp989Gly)
c.4060T>G (p.Trp1354Gly)
c.2033T>G
c.*1356T>G (n.*1356T>G)
n.4999T>G
n.3600T>G
c.4111T>G (p.Trp1371Gly)
c.4159T>G (p.Trp1387Gly)
c.4219T>G (p.Trp1407Gly)
c.3769T>G (p.Trp1257Gly)
c.2071T>G (p.Trp691Gly)
c.1888T>G (p.Trp630Gly)
c.4120T>G (p.Trp1374Gly)
c.4072T>G (p.Trp1358Gly)
c.3841T>G (p.Trp1281Gly)
c.3742T>G (p.Trp1248Gly)
c.2923T>G (p.Trp975Gly)
n.4474T>G
13g.51934899A>GCA388019366ATP7Bc.*1905T>C (n.*1905T>C)
c.*2999T>C (n.*2999T>C)
c.3634T>C (p.Trp1212Arg)
c.4255T>C (p.Trp1419Arg)
c.3922T>C (p.Trp1308Arg)
c.4003T>C (p.Trp1335Arg)
n.1578T>C
c.4021T>C (p.Trp1341Arg)
n.4394T>C
n.1121T>C
c.3190T>C (p.Trp1064Arg)
c.2965T>C (p.Trp989Arg)
c.4060T>C (p.Trp1354Arg)
c.2033T>C
c.*1356T>C (n.*1356T>C)
n.4999T>C
n.3600T>C
c.4111T>C (p.Trp1371Arg)
c.4159T>C (p.Trp1387Arg)
c.4219T>C (p.Trp1407Arg)
c.3769T>C (p.Trp1257Arg)
c.2071T>C (p.Trp691Arg)
c.1888T>C (p.Trp630Arg)
c.4120T>C (p.Trp1374Arg)
c.4072T>C (p.Trp1358Arg)
c.3841T>C (p.Trp1281Arg)
c.3742T>C (p.Trp1248Arg)
c.2923T>C (p.Trp975Arg)
n.4474T>C
 gnomAD v4
13g.51934899A>TCA388019368ATP7Bc.*1905T>A (n.*1905T>A)
c.*2999T>A (n.*2999T>A)
c.3634T>A (p.Trp1212Arg)
c.4255T>A (p.Trp1419Arg)
c.3922T>A (p.Trp1308Arg)
c.4003T>A (p.Trp1335Arg)
n.1578T>A
c.4021T>A (p.Trp1341Arg)
n.4394T>A
n.1121T>A
c.3190T>A (p.Trp1064Arg)
c.2965T>A (p.Trp989Arg)
c.4060T>A (p.Trp1354Arg)
c.2033T>A
c.*1356T>A (n.*1356T>A)
n.4999T>A
n.3600T>A
c.4111T>A (p.Trp1371Arg)
c.4159T>A (p.Trp1387Arg)
c.4219T>A (p.Trp1407Arg)
c.3769T>A (p.Trp1257Arg)
c.2071T>A (p.Trp691Arg)
c.1888T>A (p.Trp630Arg)
c.4120T>A (p.Trp1374Arg)
c.4072T>A (p.Trp1358Arg)
c.3841T>A (p.Trp1281Arg)
c.3742T>A (p.Trp1248Arg)
c.2923T>A (p.Trp975Arg)
n.4474T>A
13g.51934900T>ACA484024163ATP7Bc.*1904A>T (n.*1904A>T)
c.*2998A>T (n.*2998A>T)
c.3633A>T (p.Pro1211=)
c.4254A>T (p.Pro1418=)
c.3921A>T (p.Pro1307=)
c.4002A>T (p.Pro1334=)
n.1577A>T
c.4020A>T (p.Pro1340=)
n.4393A>T
n.1120A>T
c.3189A>T (p.Pro1063=)
c.2964A>T (p.Pro988=)
c.4059A>T (p.Pro1353=)
c.2032A>T
c.*1355A>T (n.*1355A>T)
n.4998A>T
n.3599A>T
c.4110A>T (p.Pro1370=)
c.4158A>T (p.Pro1386=)
c.4218A>T (p.Pro1406=)
c.3768A>T (p.Pro1256=)
c.2070A>T (p.Pro690=)
c.1887A>T (p.Pro629=)
c.4119A>T (p.Pro1373=)
c.4071A>T (p.Pro1357=)
c.3840A>T (p.Pro1280=)
c.3741A>T (p.Pro1247=)
c.2922A>T (p.Pro974=)
n.4473A>T
 gnomAD v4
13g.51934900T>CCA484024164ATP7Bc.*1904A>G (n.*1904A>G)
c.*2998A>G (n.*2998A>G)
c.3633A>G (p.Pro1211=)
c.4254A>G (p.Pro1418=)
c.3921A>G (p.Pro1307=)
c.4002A>G (p.Pro1334=)
n.1577A>G
c.4020A>G (p.Pro1340=)
n.4393A>G
n.1120A>G
c.3189A>G (p.Pro1063=)
c.2964A>G (p.Pro988=)
c.4059A>G (p.Pro1353=)
c.2032A>G
c.*1355A>G (n.*1355A>G)
n.4998A>G
n.3599A>G
c.4110A>G (p.Pro1370=)
c.4158A>G (p.Pro1386=)
c.4218A>G (p.Pro1406=)
c.3768A>G (p.Pro1256=)
c.2070A>G (p.Pro690=)
c.1887A>G (p.Pro629=)
c.4119A>G (p.Pro1373=)
c.4071A>G (p.Pro1357=)
c.3840A>G (p.Pro1280=)
c.3741A>G (p.Pro1247=)
c.2922A>G (p.Pro974=)
n.4473A>G
 ClinVar gnomAD v4
13g.51934900T>GCA484024165ATP7Bc.*1904A>C (n.*1904A>C)
c.*2998A>C (n.*2998A>C)
c.3633A>C (p.Pro1211=)
c.4254A>C (p.Pro1418=)
c.3921A>C (p.Pro1307=)
c.4002A>C (p.Pro1334=)
n.1577A>C
c.4020A>C (p.Pro1340=)
n.4393A>C
n.1120A>C
c.3189A>C (p.Pro1063=)
c.2964A>C (p.Pro988=)
c.4059A>C (p.Pro1353=)
c.2032A>C
c.*1355A>C (n.*1355A>C)
n.4998A>C
n.3599A>C
c.4110A>C (p.Pro1370=)
c.4158A>C (p.Pro1386=)
c.4218A>C (p.Pro1406=)
c.3768A>C (p.Pro1256=)
c.2070A>C (p.Pro690=)
c.1887A>C (p.Pro629=)
c.4119A>C (p.Pro1373=)
c.4071A>C (p.Pro1357=)
c.3840A>C (p.Pro1280=)
c.3741A>C (p.Pro1247=)
c.2922A>C (p.Pro974=)
n.4473A>C
13g.51934901G>ACA388019371ATP7Bc.*1903C>T (n.*1903C>T)
c.*2997C>T (n.*2997C>T)
c.3632C>T (p.Pro1211Leu)
c.4253C>T (p.Pro1418Leu)
c.3920C>T (p.Pro1307Leu)
c.4001C>T (p.Pro1334Leu)
n.1576C>T
c.4019C>T (p.Pro1340Leu)
n.4392C>T
n.1119C>T
c.3188C>T (p.Pro1063Leu)
c.2963C>T (p.Pro988Leu)
c.4058C>T (p.Pro1353Leu)
c.2031C>T
c.*1354C>T (n.*1354C>T)
n.4997C>T
n.3598C>T
c.4109C>T (p.Pro1370Leu)
c.4157C>T (p.Pro1386Leu)
c.4217C>T (p.Pro1406Leu)
c.3767C>T (p.Pro1256Leu)
c.2069C>T (p.Pro690Leu)
c.1886C>T (p.Pro629Leu)
c.4118C>T (p.Pro1373Leu)
c.4070C>T (p.Pro1357Leu)
c.3839C>T (p.Pro1280Leu)
c.3740C>T (p.Pro1247Leu)
c.2921C>T (p.Pro974Leu)
n.4472C>T
13g.51934901G>CCA388019374ATP7Bc.*1903C>G (n.*1903C>G)
c.*2997C>G (n.*2997C>G)
c.3632C>G (p.Pro1211Arg)
c.4253C>G (p.Pro1418Arg)
c.3920C>G (p.Pro1307Arg)
c.4001C>G (p.Pro1334Arg)
n.1576C>G
c.4019C>G (p.Pro1340Arg)
n.4392C>G
n.1119C>G
c.3188C>G (p.Pro1063Arg)
c.2963C>G (p.Pro988Arg)
c.4058C>G (p.Pro1353Arg)
c.2031C>G
c.*1354C>G (n.*1354C>G)
n.4997C>G
n.3598C>G
c.4109C>G (p.Pro1370Arg)
c.4157C>G (p.Pro1386Arg)
c.4217C>G (p.Pro1406Arg)
c.3767C>G (p.Pro1256Arg)
c.2069C>G (p.Pro690Arg)
c.1886C>G (p.Pro629Arg)
c.4118C>G (p.Pro1373Arg)
c.4070C>G (p.Pro1357Arg)
c.3839C>G (p.Pro1280Arg)
c.3740C>G (p.Pro1247Arg)
c.2921C>G (p.Pro974Arg)
n.4472C>G
13g.51934901G>TCA388019377ATP7Bc.*1903C>A (n.*1903C>A)
c.*2997C>A (n.*2997C>A)
c.3632C>A (p.Pro1211Gln)
c.4253C>A (p.Pro1418Gln)
c.3920C>A (p.Pro1307Gln)
c.4001C>A (p.Pro1334Gln)
n.1576C>A
c.4019C>A (p.Pro1340Gln)
n.4392C>A
n.1119C>A
c.3188C>A (p.Pro1063Gln)
c.2963C>A (p.Pro988Gln)
c.4058C>A (p.Pro1353Gln)
c.2031C>A
c.*1354C>A (n.*1354C>A)
n.4997C>A
n.3598C>A
c.4109C>A (p.Pro1370Gln)
c.4157C>A (p.Pro1386Gln)
c.4217C>A (p.Pro1406Gln)
c.3767C>A (p.Pro1256Gln)
c.2069C>A (p.Pro690Gln)
c.1886C>A (p.Pro629Gln)
c.4118C>A (p.Pro1373Gln)
c.4070C>A (p.Pro1357Gln)
c.3839C>A (p.Pro1280Gln)
c.3740C>A (p.Pro1247Gln)
c.2921C>A (p.Pro974Gln)
n.4472C>A
13g.51934902G>ACA388019379ATP7Bc.*1902C>T (n.*1902C>T)
c.*2996C>T (n.*2996C>T)
c.3631C>T (p.Pro1211Ser)
c.4252C>T (p.Pro1418Ser)
c.3919C>T (p.Pro1307Ser)
c.4000C>T (p.Pro1334Ser)
n.1575C>T
c.4018C>T (p.Pro1340Ser)
n.4391C>T
n.1118C>T
c.3187C>T (p.Pro1063Ser)
c.2962C>T (p.Pro988Ser)
c.4057C>T (p.Pro1353Ser)
c.2030C>T
c.*1353C>T (n.*1353C>T)
n.4996C>T
n.3597C>T
c.4108C>T (p.Pro1370Ser)
c.4156C>T (p.Pro1386Ser)
c.4216C>T (p.Pro1406Ser)
c.3766C>T (p.Pro1256Ser)
c.2068C>T (p.Pro690Ser)
c.1885C>T (p.Pro629Ser)
c.4117C>T (p.Pro1373Ser)
c.4069C>T (p.Pro1357Ser)
c.3838C>T (p.Pro1280Ser)
c.3739C>T (p.Pro1247Ser)
c.2920C>T (p.Pro974Ser)
n.4471C>T
13g.51934902G>CCA388019381ATP7Bc.*1902C>G (n.*1902C>G)
c.*2996C>G (n.*2996C>G)
c.3631C>G (p.Pro1211Ala)
c.4252C>G (p.Pro1418Ala)
c.3919C>G (p.Pro1307Ala)
c.4000C>G (p.Pro1334Ala)
n.1575C>G
c.4018C>G (p.Pro1340Ala)
n.4391C>G
n.1118C>G
c.3187C>G (p.Pro1063Ala)
c.2962C>G (p.Pro988Ala)
c.4057C>G (p.Pro1353Ala)
c.2030C>G
c.*1353C>G (n.*1353C>G)
n.4996C>G
n.3597C>G
c.4108C>G (p.Pro1370Ala)
c.4156C>G (p.Pro1386Ala)
c.4216C>G (p.Pro1406Ala)
c.3766C>G (p.Pro1256Ala)
c.2068C>G (p.Pro690Ala)
c.1885C>G (p.Pro629Ala)
c.4117C>G (p.Pro1373Ala)
c.4069C>G (p.Pro1357Ala)
c.3838C>G (p.Pro1280Ala)
c.3739C>G (p.Pro1247Ala)
c.2920C>G (p.Pro974Ala)
n.4471C>G
13g.51934902G>TCA388019384ATP7Bc.*1902C>A (n.*1902C>A)
c.*2996C>A (n.*2996C>A)
c.3631C>A (p.Pro1211Thr)
c.4252C>A (p.Pro1418Thr)
c.3919C>A (p.Pro1307Thr)
c.4000C>A (p.Pro1334Thr)
n.1575C>A
c.4018C>A (p.Pro1340Thr)
n.4391C>A
n.1118C>A
c.3187C>A (p.Pro1063Thr)
c.2962C>A (p.Pro988Thr)
c.4057C>A (p.Pro1353Thr)
c.2030C>A
c.*1353C>A (n.*1353C>A)
n.4996C>A
n.3597C>A
c.4108C>A (p.Pro1370Thr)
c.4156C>A (p.Pro1386Thr)
c.4216C>A (p.Pro1406Thr)
c.3766C>A (p.Pro1256Thr)
c.2068C>A (p.Pro690Thr)
c.1885C>A (p.Pro629Thr)
c.4117C>A (p.Pro1373Thr)
c.4069C>A (p.Pro1357Thr)
c.3838C>A (p.Pro1280Thr)
c.3739C>A (p.Pro1247Thr)
c.2920C>A (p.Pro974Thr)
n.4471C>A
13g.51934903T>ACA484024167ATP7Bc.*1901A>T (n.*1901A>T)
c.*2995A>T (n.*2995A>T)
c.3630A>T (p.Thr1210=)
c.4251A>T (p.Thr1417=)
c.3918A>T (p.Thr1306=)
c.3999A>T (p.Thr1333=)
n.1574A>T
c.4017A>T (p.Thr1339=)
n.4390A>T
n.1117A>T
c.3186A>T (p.Thr1062=)
c.2961A>T (p.Thr987=)
c.4056A>T (p.Thr1352=)
c.2029A>T
c.*1352A>T (n.*1352A>T)
n.4995A>T
n.3596A>T
c.4107A>T (p.Thr1369=)
c.4155A>T (p.Thr1385=)
c.4215A>T (p.Thr1405=)
c.3765A>T (p.Thr1255=)
c.2067A>T (p.Thr689=)
c.1884A>T (p.Thr628=)
c.4116A>T (p.Thr1372=)
c.4068A>T (p.Thr1356=)
c.3837A>T (p.Thr1279=)
c.3738A>T (p.Thr1246=)
c.2919A>T (p.Thr973=)
n.4470A>T
13g.51934903T>CCA6988445ATP7Bc.*1901A>G (n.*1901A>G)
c.*2995A>G (n.*2995A>G)
c.3630A>G (p.Thr1210=)
c.4251A>G (p.Thr1417=)
c.3918A>G (p.Thr1306=)
c.3999A>G (p.Thr1333=)
n.1574A>G
c.4017A>G (p.Thr1339=)
n.4390A>G
n.1117A>G
c.3186A>G (p.Thr1062=)
c.2961A>G (p.Thr987=)
c.4056A>G (p.Thr1352=)
c.2029A>G
c.*1352A>G (n.*1352A>G)
n.4995A>G
n.3596A>G
c.4107A>G (p.Thr1369=)
c.4155A>G (p.Thr1385=)
c.4215A>G (p.Thr1405=)
c.3765A>G (p.Thr1255=)
c.2067A>G (p.Thr689=)
c.1884A>G (p.Thr628=)
c.4116A>G (p.Thr1372=)
c.4068A>G (p.Thr1356=)
c.3837A>G (p.Thr1279=)
c.3738A>G (p.Thr1246=)
c.2919A>G (p.Thr973=)
n.4470A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51934903T>GCA484024166ATP7Bc.*1901A>C (n.*1901A>C)
c.*2995A>C (n.*2995A>C)
c.3630A>C (p.Thr1210=)
c.4251A>C (p.Thr1417=)
c.3918A>C (p.Thr1306=)
c.3999A>C (p.Thr1333=)
n.1574A>C
c.4017A>C (p.Thr1339=)
n.4390A>C
n.1117A>C
c.3186A>C (p.Thr1062=)
c.2961A>C (p.Thr987=)
c.4056A>C (p.Thr1352=)
c.2029A>C
c.*1352A>C (n.*1352A>C)
n.4995A>C
n.3596A>C
c.4107A>C (p.Thr1369=)
c.4155A>C (p.Thr1385=)
c.4215A>C (p.Thr1405=)
c.3765A>C (p.Thr1255=)
c.2067A>C (p.Thr689=)
c.1884A>C (p.Thr628=)
c.4116A>C (p.Thr1372=)
c.4068A>C (p.Thr1356=)
c.3837A>C (p.Thr1279=)
c.3738A>C (p.Thr1246=)
c.2919A>C (p.Thr973=)
n.4470A>C
13g.51934903T=CA2091550381ATP7Bc.*1901A= (n.*1901A=)
c.*2995A= (n.*2995A=)
c.3630A= (p.Thr1210=)
c.4251A= (p.Thr1417=)
c.3918A= (p.Thr1306=)
c.3999A= (p.Thr1333=)
n.1574A=
c.4017A= (p.Thr1339=)
n.4390A=
n.1117A=
c.3186A= (p.Thr1062=)
c.2961A= (p.Thr987=)
c.4056A= (p.Thr1352=)
c.2029A=
c.*1352A= (n.*1352A=)
n.4995A=
n.3596A=
c.4107A= (p.Thr1369=)
c.4155A= (p.Thr1385=)
c.4215A= (p.Thr1405=)
c.3765A= (p.Thr1255=)
c.2067A= (p.Thr689=)
c.1884A= (p.Thr628=)
c.4116A= (p.Thr1372=)
c.4068A= (p.Thr1356=)
c.3837A= (p.Thr1279=)
c.3738A= (p.Thr1246=)
c.2919A= (p.Thr973=)
n.4470A=
13g.51934904G>ACA388019390ATP7Bc.*1900C>T (n.*1900C>T)
c.*2994C>T (n.*2994C>T)
c.3629C>T (p.Thr1210Ile)
c.4250C>T (p.Thr1417Ile)
c.3917C>T (p.Thr1306Ile)
c.3998C>T (p.Thr1333Ile)
n.1573C>T
c.4016C>T (p.Thr1339Ile)
n.4389C>T
n.1116C>T
c.3185C>T (p.Thr1062Ile)
c.2960C>T (p.Thr987Ile)
c.4055C>T (p.Thr1352Ile)
c.2028C>T
c.*1351C>T (n.*1351C>T)
n.4994C>T
n.3595C>T
c.4106C>T (p.Thr1369Ile)
c.4154C>T (p.Thr1385Ile)
c.4214C>T (p.Thr1405Ile)
c.3764C>T (p.Thr1255Ile)
c.2066C>T (p.Thr689Ile)
c.1883C>T (p.Thr628Ile)
c.4115C>T (p.Thr1372Ile)
c.4067C>T (p.Thr1356Ile)
c.3836C>T (p.Thr1279Ile)
c.3737C>T (p.Thr1246Ile)
c.2918C>T (p.Thr973Ile)
n.4469C>T
13g.51934904G>CCA388019392ATP7Bc.*1900C>G (n.*1900C>G)
c.*2994C>G (n.*2994C>G)
c.3629C>G (p.Thr1210Arg)
c.4250C>G (p.Thr1417Arg)
c.3917C>G (p.Thr1306Arg)
c.3998C>G (p.Thr1333Arg)
n.1573C>G
c.4016C>G (p.Thr1339Arg)
n.4389C>G
n.1116C>G
c.3185C>G (p.Thr1062Arg)
c.2960C>G (p.Thr987Arg)
c.4055C>G (p.Thr1352Arg)
c.2028C>G
c.*1351C>G (n.*1351C>G)
n.4994C>G
n.3595C>G
c.4106C>G (p.Thr1369Arg)
c.4154C>G (p.Thr1385Arg)
c.4214C>G (p.Thr1405Arg)
c.3764C>G (p.Thr1255Arg)
c.2066C>G (p.Thr689Arg)
c.1883C>G (p.Thr628Arg)
c.4115C>G (p.Thr1372Arg)
c.4067C>G (p.Thr1356Arg)
c.3836C>G (p.Thr1279Arg)
c.3737C>G (p.Thr1246Arg)
c.2918C>G (p.Thr973Arg)
n.4469C>G
13g.51934904G>TCA388019395ATP7Bc.*1900C>A (n.*1900C>A)
c.*2994C>A (n.*2994C>A)
c.3629C>A (p.Thr1210Lys)
c.4250C>A (p.Thr1417Lys)
c.3917C>A (p.Thr1306Lys)
c.3998C>A (p.Thr1333Lys)
n.1573C>A
c.4016C>A (p.Thr1339Lys)
n.4389C>A
n.1116C>A
c.3185C>A (p.Thr1062Lys)
c.2960C>A (p.Thr987Lys)
c.4055C>A (p.Thr1352Lys)
c.2028C>A
c.*1351C>A (n.*1351C>A)
n.4994C>A
n.3595C>A
c.4106C>A (p.Thr1369Lys)
c.4154C>A (p.Thr1385Lys)
c.4214C>A (p.Thr1405Lys)
c.3764C>A (p.Thr1255Lys)
c.2066C>A (p.Thr689Lys)
c.1883C>A (p.Thr628Lys)
c.4115C>A (p.Thr1372Lys)
c.4067C>A (p.Thr1356Lys)
c.3836C>A (p.Thr1279Lys)
c.3737C>A (p.Thr1246Lys)
c.2918C>A (p.Thr973Lys)
n.4469C>A
13g.51934905T>ACA388019398ATP7Bc.*1899A>T (n.*1899A>T)
c.*2993A>T (n.*2993A>T)
c.3628A>T (p.Thr1210Ser)
c.4249A>T (p.Thr1417Ser)
c.3916A>T (p.Thr1306Ser)
c.3997A>T (p.Thr1333Ser)
n.1572A>T
c.4015A>T (p.Thr1339Ser)
n.4388A>T
n.1115A>T
c.3184A>T (p.Thr1062Ser)
c.2959A>T (p.Thr987Ser)
c.4054A>T (p.Thr1352Ser)
c.2027A>T
c.*1350A>T (n.*1350A>T)
n.4993A>T
n.3594A>T
c.4105A>T (p.Thr1369Ser)
c.4153A>T (p.Thr1385Ser)
c.4213A>T (p.Thr1405Ser)
c.3763A>T (p.Thr1255Ser)
c.2065A>T (p.Thr689Ser)
c.1882A>T (p.Thr628Ser)
c.4114A>T (p.Thr1372Ser)
c.4066A>T (p.Thr1356Ser)
c.3835A>T (p.Thr1279Ser)
c.3736A>T (p.Thr1246Ser)
c.2917A>T (p.Thr973Ser)
n.4468A>T
13g.51934905T>CCA388019402ATP7Bc.*1899A>G (n.*1899A>G)
c.*2993A>G (n.*2993A>G)
c.3628A>G (p.Thr1210Ala)
c.4249A>G (p.Thr1417Ala)
c.3916A>G (p.Thr1306Ala)
c.3997A>G (p.Thr1333Ala)
n.1572A>G
c.4015A>G (p.Thr1339Ala)
n.4388A>G
n.1115A>G
c.3184A>G (p.Thr1062Ala)
c.2959A>G (p.Thr987Ala)
c.4054A>G (p.Thr1352Ala)
c.2027A>G
c.*1350A>G (n.*1350A>G)
n.4993A>G
n.3594A>G
c.4105A>G (p.Thr1369Ala)
c.4153A>G (p.Thr1385Ala)
c.4213A>G (p.Thr1405Ala)
c.3763A>G (p.Thr1255Ala)
c.2065A>G (p.Thr689Ala)
c.1882A>G (p.Thr628Ala)
c.4114A>G (p.Thr1372Ala)
c.4066A>G (p.Thr1356Ala)
c.3835A>G (p.Thr1279Ala)
c.3736A>G (p.Thr1246Ala)
c.2917A>G (p.Thr973Ala)
n.4468A>G
13g.51934905T>GCA388019401ATP7Bc.*1899A>C (n.*1899A>C)
c.*2993A>C (n.*2993A>C)
c.3628A>C (p.Thr1210Pro)
c.4249A>C (p.Thr1417Pro)
c.3916A>C (p.Thr1306Pro)
c.3997A>C (p.Thr1333Pro)
n.1572A>C
c.4015A>C (p.Thr1339Pro)
n.4388A>C
n.1115A>C
c.3184A>C (p.Thr1062Pro)
c.2959A>C (p.Thr987Pro)
c.4054A>C (p.Thr1352Pro)
c.2027A>C
c.*1350A>C (n.*1350A>C)
n.4993A>C
n.3594A>C
c.4105A>C (p.Thr1369Pro)
c.4153A>C (p.Thr1385Pro)
c.4213A>C (p.Thr1405Pro)
c.3763A>C (p.Thr1255Pro)
c.2065A>C (p.Thr689Pro)
c.1882A>C (p.Thr628Pro)
c.4114A>C (p.Thr1372Pro)
c.4066A>C (p.Thr1356Pro)
c.3835A>C (p.Thr1279Pro)
c.3736A>C (p.Thr1246Pro)
c.2917A>C (p.Thr973Pro)
n.4468A>C
13g.51934906G>ACA484024168ATP7Bc.*1898C>T (n.*1898C>T)
c.*2992C>T (n.*2992C>T)
c.3627C>T (p.Ala1209=)
c.4248C>T (p.Ala1416=)
c.3915C>T (p.Ala1305=)
c.3996C>T (p.Ala1332=)
n.1571C>T
c.4014C>T (p.Ala1338=)
n.4387C>T
n.1114C>T
c.3183C>T (p.Ala1061=)
c.2958C>T (p.Ala986=)
c.4053C>T (p.Ala1351=)
c.2026C>T
c.*1349C>T (n.*1349C>T)
n.4992C>T
n.3593C>T
c.4104C>T (p.Ala1368=)
c.4152C>T (p.Ala1384=)
c.4212C>T (p.Ala1404=)
c.3762C>T (p.Ala1254=)
c.2064C>T (p.Ala688=)
c.1881C>T (p.Ala627=)
c.4113C>T (p.Ala1371=)
c.4065C>T (p.Ala1355=)
c.3834C>T (p.Ala1278=)
c.3735C>T (p.Ala1245=)
c.2916C>T (p.Ala972=)
n.4467C>T
13g.51934906G>CCA484024169ATP7Bc.*1898C>G (n.*1898C>G)
c.*2992C>G (n.*2992C>G)
c.3627C>G (p.Ala1209=)
c.4248C>G (p.Ala1416=)
c.3915C>G (p.Ala1305=)
c.3996C>G (p.Ala1332=)
n.1571C>G
c.4014C>G (p.Ala1338=)
n.4387C>G
n.1114C>G
c.3183C>G (p.Ala1061=)
c.2958C>G (p.Ala986=)
c.4053C>G (p.Ala1351=)
c.2026C>G
c.*1349C>G (n.*1349C>G)
n.4992C>G
n.3593C>G
c.4104C>G (p.Ala1368=)
c.4152C>G (p.Ala1384=)
c.4212C>G (p.Ala1404=)
c.3762C>G (p.Ala1254=)
c.2064C>G (p.Ala688=)
c.1881C>G (p.Ala627=)
c.4113C>G (p.Ala1371=)
c.4065C>G (p.Ala1355=)
c.3834C>G (p.Ala1278=)
c.3735C>G (p.Ala1245=)
c.2916C>G (p.Ala972=)
n.4467C>G
13g.51934906G>TCA484024170ATP7Bc.*1898C>A (n.*1898C>A)
c.*2992C>A (n.*2992C>A)
c.3627C>A (p.Ala1209=)
c.4248C>A (p.Ala1416=)
c.3915C>A (p.Ala1305=)
c.3996C>A (p.Ala1332=)
n.1571C>A
c.4014C>A (p.Ala1338=)
n.4387C>A
n.1114C>A
c.3183C>A (p.Ala1061=)
c.2958C>A (p.Ala986=)
c.4053C>A (p.Ala1351=)
c.2026C>A
c.*1349C>A (n.*1349C>A)
n.4992C>A
n.3593C>A
c.4104C>A (p.Ala1368=)
c.4152C>A (p.Ala1384=)
c.4212C>A (p.Ala1404=)
c.3762C>A (p.Ala1254=)
c.2064C>A (p.Ala688=)
c.1881C>A (p.Ala627=)
c.4113C>A (p.Ala1371=)
c.4065C>A (p.Ala1355=)
c.3834C>A (p.Ala1278=)
c.3735C>A (p.Ala1245=)
c.2916C>A (p.Ala972=)
n.4467C>A
 ClinVar
13g.51934907G>ACA388019404ATP7Bc.*1897C>T (n.*1897C>T)
c.*2991C>T (n.*2991C>T)
c.3626C>T (p.Ala1209Val)
c.4247C>T (p.Ala1416Val)
c.3914C>T (p.Ala1305Val)
c.3995C>T (p.Ala1332Val)
n.1570C>T
c.4013C>T (p.Ala1338Val)
n.4386C>T
n.1113C>T
c.3182C>T (p.Ala1061Val)
c.2957C>T (p.Ala986Val)
c.4052C>T (p.Ala1351Val)
c.2025C>T
c.*1348C>T (n.*1348C>T)
n.4991C>T
n.3592C>T
c.4103C>T (p.Ala1368Val)
c.4151C>T (p.Ala1384Val)
c.4211C>T (p.Ala1404Val)
c.3761C>T (p.Ala1254Val)
c.2063C>T (p.Ala688Val)
c.1880C>T (p.Ala627Val)
c.4112C>T (p.Ala1371Val)
c.4064C>T (p.Ala1355Val)
c.3833C>T (p.Ala1278Val)
c.3734C>T (p.Ala1245Val)
c.2915C>T (p.Ala972Val)
n.4466C>T
13g.51934907G>CCA388019406ATP7Bc.*1897C>G (n.*1897C>G)
c.*2991C>G (n.*2991C>G)
c.3626C>G (p.Ala1209Gly)
c.4247C>G (p.Ala1416Gly)
c.3914C>G (p.Ala1305Gly)
c.3995C>G (p.Ala1332Gly)
n.1570C>G
c.4013C>G (p.Ala1338Gly)
n.4386C>G
n.1113C>G
c.3182C>G (p.Ala1061Gly)
c.2957C>G (p.Ala986Gly)
c.4052C>G (p.Ala1351Gly)
c.2025C>G
c.*1348C>G (n.*1348C>G)
n.4991C>G
n.3592C>G
c.4103C>G (p.Ala1368Gly)
c.4151C>G (p.Ala1384Gly)
c.4211C>G (p.Ala1404Gly)
c.3761C>G (p.Ala1254Gly)
c.2063C>G (p.Ala688Gly)
c.1880C>G (p.Ala627Gly)
c.4112C>G (p.Ala1371Gly)
c.4064C>G (p.Ala1355Gly)
c.3833C>G (p.Ala1278Gly)
c.3734C>G (p.Ala1245Gly)
c.2915C>G (p.Ala972Gly)
n.4466C>G
 gnomAD v4
13g.51934907G>TCA388019408ATP7Bc.*1897C>A (n.*1897C>A)
c.*2991C>A (n.*2991C>A)
c.3626C>A (p.Ala1209Asp)
c.4247C>A (p.Ala1416Asp)
c.3914C>A (p.Ala1305Asp)
c.3995C>A (p.Ala1332Asp)
n.1570C>A
c.4013C>A (p.Ala1338Asp)
n.4386C>A
n.1113C>A
c.3182C>A (p.Ala1061Asp)
c.2957C>A (p.Ala986Asp)
c.4052C>A (p.Ala1351Asp)
c.2025C>A
c.*1348C>A (n.*1348C>A)
n.4991C>A
n.3592C>A
c.4103C>A (p.Ala1368Asp)
c.4151C>A (p.Ala1384Asp)
c.4211C>A (p.Ala1404Asp)
c.3761C>A (p.Ala1254Asp)
c.2063C>A (p.Ala688Asp)
c.1880C>A (p.Ala627Asp)
c.4112C>A (p.Ala1371Asp)
c.4064C>A (p.Ala1355Asp)
c.3833C>A (p.Ala1278Asp)
c.3734C>A (p.Ala1245Asp)
c.2915C>A (p.Ala972Asp)
n.4466C>A
13g.51934908C>ACA388019410ATP7Bc.*1896G>T (n.*1896G>T)
c.*2990G>T (n.*2990G>T)
c.3625G>T (p.Ala1209Ser)
c.4246G>T (p.Ala1416Ser)
c.3913G>T (p.Ala1305Ser)
c.3994G>T (p.Ala1332Ser)
n.1569G>T
c.4012G>T (p.Ala1338Ser)
n.4385G>T
n.1112G>T
c.3181G>T (p.Ala1061Ser)
c.2956G>T (p.Ala986Ser)
c.4051G>T (p.Ala1351Ser)
c.2024G>T
c.*1347G>T (n.*1347G>T)
n.4990G>T
n.3591G>T
c.4102G>T (p.Ala1368Ser)
c.4150G>T (p.Ala1384Ser)
c.4210G>T (p.Ala1404Ser)
c.3760G>T (p.Ala1254Ser)
c.2062G>T (p.Ala688Ser)
c.1879G>T (p.Ala627Ser)
c.4111G>T (p.Ala1371Ser)
c.4063G>T (p.Ala1355Ser)
c.3832G>T (p.Ala1278Ser)
c.3733G>T (p.Ala1245Ser)
c.2914G>T (p.Ala972Ser)
n.4465G>T
13g.51934908C=CA2091550389ATP7Bc.*1896G= (n.*1896G=)
c.*2990G= (n.*2990G=)
c.3625G= (p.Ala1209=)
c.4246G= (p.Ala1416=)
c.3913G= (p.Ala1305=)
c.3994G= (p.Ala1332=)
n.1569G=
c.4012G= (p.Ala1338=)
n.4385G=
n.1112G=
c.3181G= (p.Ala1061=)
c.2956G= (p.Ala986=)
c.4051G= (p.Ala1351=)
c.2024G=
c.*1347G= (n.*1347G=)
n.4990G=
n.3591G=
c.4102G= (p.Ala1368=)
c.4150G= (p.Ala1384=)
c.4210G= (p.Ala1404=)
c.3760G= (p.Ala1254=)
c.2062G= (p.Ala688=)
c.1879G= (p.Ala627=)
c.4111G= (p.Ala1371=)
c.4063G= (p.Ala1355=)
c.3832G= (p.Ala1278=)
c.3733G= (p.Ala1245=)
c.2914G= (p.Ala972=)
n.4465G=
13g.51934908C>GCA388019412ATP7Bc.*1896G>C (n.*1896G>C)
c.*2990G>C (n.*2990G>C)
c.3625G>C (p.Ala1209Pro)
c.4246G>C (p.Ala1416Pro)
c.3913G>C (p.Ala1305Pro)
c.3994G>C (p.Ala1332Pro)
n.1569G>C
c.4012G>C (p.Ala1338Pro)
n.4385G>C
n.1112G>C
c.3181G>C (p.Ala1061Pro)
c.2956G>C (p.Ala986Pro)
c.4051G>C (p.Ala1351Pro)
c.2024G>C
c.*1347G>C (n.*1347G>C)
n.4990G>C
n.3591G>C
c.4102G>C (p.Ala1368Pro)
c.4150G>C (p.Ala1384Pro)
c.4210G>C (p.Ala1404Pro)
c.3760G>C (p.Ala1254Pro)
c.2062G>C (p.Ala688Pro)
c.1879G>C (p.Ala627Pro)
c.4111G>C (p.Ala1371Pro)
c.4063G>C (p.Ala1355Pro)
c.3832G>C (p.Ala1278Pro)
c.3733G>C (p.Ala1245Pro)
c.2914G>C (p.Ala972Pro)
n.4465G>C
13g.51934908C>TCA6988446ATP7Bc.*1896G>A (n.*1896G>A)
c.*2990G>A (n.*2990G>A)
c.3625G>A (p.Ala1209Thr)
c.4246G>A (p.Ala1416Thr)
c.3913G>A (p.Ala1305Thr)
c.3994G>A (p.Ala1332Thr)
n.1569G>A
c.4012G>A (p.Ala1338Thr)
n.4385G>A
n.1112G>A
c.3181G>A (p.Ala1061Thr)
c.2956G>A (p.Ala986Thr)
c.4051G>A (p.Ala1351Thr)
c.2024G>A
c.*1347G>A (n.*1347G>A)
n.4990G>A
n.3591G>A
c.4102G>A (p.Ala1368Thr)
c.4150G>A (p.Ala1384Thr)
c.4210G>A (p.Ala1404Thr)
c.3760G>A (p.Ala1254Thr)
c.2062G>A (p.Ala688Thr)
c.1879G>A (p.Ala627Thr)
c.4111G>A (p.Ala1371Thr)
c.4063G>A (p.Ala1355Thr)
c.3832G>A (p.Ala1278Thr)
c.3733G>A (p.Ala1245Thr)
c.2914G>A (p.Ala972Thr)
n.4465G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934909C>ACA388019415ATP7Bc.*1895G>T (n.*1895G>T)
c.*2989G>T (n.*2989G>T)
c.3624G>T (p.Arg1208Ser)
c.4245G>T (p.Arg1415Ser)
c.3912G>T (p.Arg1304Ser)
c.3993G>T (p.Arg1331Ser)
n.1568G>T
c.4011G>T (p.Arg1337Ser)
n.4384G>T
n.1111G>T
c.3180G>T (p.Arg1060Ser)
c.2955G>T (p.Arg985Ser)
c.4050G>T (p.Arg1350Ser)
c.2023G>T
c.*1346G>T (n.*1346G>T)
n.4989G>T
n.3590G>T
c.4101G>T (p.Arg1367Ser)
c.4149G>T (p.Arg1383Ser)
c.4209G>T (p.Arg1403Ser)
c.3759G>T (p.Arg1253Ser)
c.2061G>T (p.Arg687Ser)
c.1878G>T (p.Arg626Ser)
c.4110G>T (p.Arg1370Ser)
c.4062G>T (p.Arg1354Ser)
c.3831G>T (p.Arg1277Ser)
c.3732G>T (p.Arg1244Ser)
c.2913G>T (p.Arg971Ser)
n.4464G>T
13g.51934909C>GCA388019417ATP7Bc.*1895G>C (n.*1895G>C)
c.*2989G>C (n.*2989G>C)
c.3624G>C (p.Arg1208Ser)
c.4245G>C (p.Arg1415Ser)
c.3912G>C (p.Arg1304Ser)
c.3993G>C (p.Arg1331Ser)
n.1568G>C
c.4011G>C (p.Arg1337Ser)
n.4384G>C
n.1111G>C
c.3180G>C (p.Arg1060Ser)
c.2955G>C (p.Arg985Ser)
c.4050G>C (p.Arg1350Ser)
c.2023G>C
c.*1346G>C (n.*1346G>C)
n.4989G>C
n.3590G>C
c.4101G>C (p.Arg1367Ser)
c.4149G>C (p.Arg1383Ser)
c.4209G>C (p.Arg1403Ser)
c.3759G>C (p.Arg1253Ser)
c.2061G>C (p.Arg687Ser)
c.1878G>C (p.Arg626Ser)
c.4110G>C (p.Arg1370Ser)
c.4062G>C (p.Arg1354Ser)
c.3831G>C (p.Arg1277Ser)
c.3732G>C (p.Arg1244Ser)
c.2913G>C (p.Arg971Ser)
n.4464G>C
13g.51934909C>TCA484024171ATP7Bc.*1895G>A (n.*1895G>A)
c.*2989G>A (n.*2989G>A)
c.3624G>A (p.Arg1208=)
c.4245G>A (p.Arg1415=)
c.3912G>A (p.Arg1304=)
c.3993G>A (p.Arg1331=)
n.1568G>A
c.4011G>A (p.Arg1337=)
n.4384G>A
n.1111G>A
c.3180G>A (p.Arg1060=)
c.2955G>A (p.Arg985=)
c.4050G>A (p.Arg1350=)
c.2023G>A
c.*1346G>A (n.*1346G>A)
n.4989G>A
n.3590G>A
c.4101G>A (p.Arg1367=)
c.4149G>A (p.Arg1383=)
c.4209G>A (p.Arg1403=)
c.3759G>A (p.Arg1253=)
c.2061G>A (p.Arg687=)
c.1878G>A (p.Arg626=)
c.4110G>A (p.Arg1370=)
c.4062G>A (p.Arg1354=)
c.3831G>A (p.Arg1277=)
c.3732G>A (p.Arg1244=)
c.2913G>A (p.Arg971=)
n.4464G>A
13g.51934909_51934916delCA2697551864ATP7Bc.*1888_*1895del (n.*1888_*1895del)
c.*2982_*2989del (n.*2982_*2989del)
c.3617_3624del (p.Ser1206CysfsTer?)
c.4238_4245del (p.Ser1413CysfsTer?)
c.3905_3912del (p.Ser1302CysfsTer?)
c.3986_3993del (p.Ser1329CysfsTer?)
n.1561_1568del
c.4004_4011del (p.Ser1335CysfsTer?)
n.4377_4384del
n.1104_1111del
c.3173_3180del (p.Ser1058CysfsTer?)
c.2948_2955del (p.Ser983CysfsTer?)
c.4043_4050del (p.Ser1348CysfsTer?)
c.2016_2023del
c.*1339_*1346del (n.*1339_*1346del)
n.4982_4989del
n.3583_3590del
c.4094_4101del (p.Ser1365CysfsTer?)
c.4142_4149del (p.Ser1381CysfsTer?)
c.4202_4209del (p.Ser1401CysfsTer?)
c.3752_3759del (p.Ser1251CysfsTer?)
c.2054_2061del (p.Ser685CysfsTer?)
c.1871_1878del (p.Ser624CysfsTer?)
c.4103_4110del (p.Ser1368CysfsTer?)
c.4055_4062del (p.Ser1352CysfsTer?)
c.3824_3831del (p.Ser1275CysfsTer?)
c.3725_3732del (p.Ser1242CysfsTer?)
c.2906_2913del (p.Ser969CysfsTer?)
n.4457_4464del
 ClinVar
13g.51934910C>ACA388019418ATP7Bc.*1894G>T (n.*1894G>T)
c.*2988G>T (n.*2988G>T)
c.3623G>T (p.Arg1208Met)
c.4244G>T (p.Arg1415Met)
c.3911G>T (p.Arg1304Met)
c.3992G>T (p.Arg1331Met)
n.1567G>T
c.4010G>T (p.Arg1337Met)
n.4383G>T
n.1110G>T
c.3179G>T (p.Arg1060Met)
c.2954G>T (p.Arg985Met)
c.4049G>T (p.Arg1350Met)
c.2022G>T
c.*1345G>T (n.*1345G>T)
n.4988G>T
n.3589G>T
c.4100G>T (p.Arg1367Met)
c.4148G>T (p.Arg1383Met)
c.4208G>T (p.Arg1403Met)
c.3758G>T (p.Arg1253Met)
c.2060G>T (p.Arg687Met)
c.1877G>T (p.Arg626Met)
c.4109G>T (p.Arg1370Met)
c.4061G>T (p.Arg1354Met)
c.3830G>T (p.Arg1277Met)
c.3731G>T (p.Arg1244Met)
c.2912G>T (p.Arg971Met)
n.4463G>T
13g.51934910C=CA2091550394ATP7Bc.*1894G= (n.*1894G=)
c.*2988G= (n.*2988G=)
c.3623G= (p.Arg1208=)
c.4244G= (p.Arg1415=)
c.3911G= (p.Arg1304=)
c.3992G= (p.Arg1331=)
n.1567G=
c.4010G= (p.Arg1337=)
n.4383G=
n.1110G=
c.3179G= (p.Arg1060=)
c.2954G= (p.Arg985=)
c.4049G= (p.Arg1350=)
c.2022G=
c.*1345G= (n.*1345G=)
n.4988G=
n.3589G=
c.4100G= (p.Arg1367=)
c.4148G= (p.Arg1383=)
c.4208G= (p.Arg1403=)
c.3758G= (p.Arg1253=)
c.2060G= (p.Arg687=)
c.1877G= (p.Arg626=)
c.4109G= (p.Arg1370=)
c.4061G= (p.Arg1354=)
c.3830G= (p.Arg1277=)
c.3731G= (p.Arg1244=)
c.2912G= (p.Arg971=)
n.4463G=
13g.51934910C>GCA388019420ATP7Bc.*1894G>C (n.*1894G>C)
c.*2988G>C (n.*2988G>C)
c.3623G>C (p.Arg1208Thr)
c.4244G>C (p.Arg1415Thr)
c.3911G>C (p.Arg1304Thr)
c.3992G>C (p.Arg1331Thr)
n.1567G>C
c.4010G>C (p.Arg1337Thr)
n.4383G>C
n.1110G>C
c.3179G>C (p.Arg1060Thr)
c.2954G>C (p.Arg985Thr)
c.4049G>C (p.Arg1350Thr)
c.2022G>C
c.*1345G>C (n.*1345G>C)
n.4988G>C
n.3589G>C
c.4100G>C (p.Arg1367Thr)
c.4148G>C (p.Arg1383Thr)
c.4208G>C (p.Arg1403Thr)
c.3758G>C (p.Arg1253Thr)
c.2060G>C (p.Arg687Thr)
c.1877G>C (p.Arg626Thr)
c.4109G>C (p.Arg1370Thr)
c.4061G>C (p.Arg1354Thr)
c.3830G>C (p.Arg1277Thr)
c.3731G>C (p.Arg1244Thr)
c.2912G>C (p.Arg971Thr)
n.4463G>C
13g.51934910C>TCA388019421ATP7Bc.*1894G>A (n.*1894G>A)
c.*2988G>A (n.*2988G>A)
c.3623G>A (p.Arg1208Lys)
c.4244G>A (p.Arg1415Lys)
c.3911G>A (p.Arg1304Lys)
c.3992G>A (p.Arg1331Lys)
n.1567G>A
c.4010G>A (p.Arg1337Lys)
n.4383G>A
n.1110G>A
c.3179G>A (p.Arg1060Lys)
c.2954G>A (p.Arg985Lys)
c.4049G>A (p.Arg1350Lys)
c.2022G>A
c.*1345G>A (n.*1345G>A)
n.4988G>A
n.3589G>A
c.4100G>A (p.Arg1367Lys)
c.4148G>A (p.Arg1383Lys)
c.4208G>A (p.Arg1403Lys)
c.3758G>A (p.Arg1253Lys)
c.2060G>A (p.Arg687Lys)
c.1877G>A (p.Arg626Lys)
c.4109G>A (p.Arg1370Lys)
c.4061G>A (p.Arg1354Lys)
c.3830G>A (p.Arg1277Lys)
c.3731G>A (p.Arg1244Lys)
c.2912G>A (p.Arg971Lys)
n.4463G>A
 dbSNP gnomAD v3 gnomAD v4
13g.51934911T>ACA6988447ATP7Bc.*1893A>T (n.*1893A>T)
c.*2987A>T (n.*2987A>T)
c.3622A>T (p.Arg1208Trp)
c.4243A>T (p.Arg1415Trp)
c.3910A>T (p.Arg1304Trp)
c.3991A>T (p.Arg1331Trp)
n.1566A>T
c.4009A>T (p.Arg1337Trp)
n.4382A>T
n.1109A>T
c.3178A>T (p.Arg1060Trp)
c.2953A>T (p.Arg985Trp)
c.4048A>T (p.Arg1350Trp)
c.2021A>T
c.*1344A>T (n.*1344A>T)
n.4987A>T
n.3588A>T
c.4099A>T (p.Arg1367Trp)
c.4147A>T (p.Arg1383Trp)
c.4207A>T (p.Arg1403Trp)
c.3757A>T (p.Arg1253Trp)
c.2059A>T (p.Arg687Trp)
c.1876A>T (p.Arg626Trp)
c.4108A>T (p.Arg1370Trp)
c.4060A>T (p.Arg1354Trp)
c.3829A>T (p.Arg1277Trp)
c.3730A>T (p.Arg1244Trp)
c.2911A>T (p.Arg971Trp)
n.4462A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934911T>CCA388019423ATP7Bc.*1893A>G (n.*1893A>G)
c.*2987A>G (n.*2987A>G)
c.3622A>G (p.Arg1208Gly)
c.4243A>G (p.Arg1415Gly)
c.3910A>G (p.Arg1304Gly)
c.3991A>G (p.Arg1331Gly)
n.1566A>G
c.4009A>G (p.Arg1337Gly)
n.4382A>G
n.1109A>G
c.3178A>G (p.Arg1060Gly)
c.2953A>G (p.Arg985Gly)
c.4048A>G (p.Arg1350Gly)
c.2021A>G
c.*1344A>G (n.*1344A>G)
n.4987A>G
n.3588A>G
c.4099A>G (p.Arg1367Gly)
c.4147A>G (p.Arg1383Gly)
c.4207A>G (p.Arg1403Gly)
c.3757A>G (p.Arg1253Gly)
c.2059A>G (p.Arg687Gly)
c.1876A>G (p.Arg626Gly)
c.4108A>G (p.Arg1370Gly)
c.4060A>G (p.Arg1354Gly)
c.3829A>G (p.Arg1277Gly)
c.3730A>G (p.Arg1244Gly)
c.2911A>G (p.Arg971Gly)
n.4462A>G
13g.51934911T>GCA484024172ATP7Bc.*1893A>C (n.*1893A>C)
c.*2987A>C (n.*2987A>C)
c.3622A>C (p.Arg1208=)
c.4243A>C (p.Arg1415=)
c.3910A>C (p.Arg1304=)
c.3991A>C (p.Arg1331=)
n.1566A>C
c.4009A>C (p.Arg1337=)
n.4382A>C
n.1109A>C
c.3178A>C (p.Arg1060=)
c.2953A>C (p.Arg985=)
c.4048A>C (p.Arg1350=)
c.2021A>C
c.*1344A>C (n.*1344A>C)
n.4987A>C
n.3588A>C
c.4099A>C (p.Arg1367=)
c.4147A>C (p.Arg1383=)
c.4207A>C (p.Arg1403=)
c.3757A>C (p.Arg1253=)
c.2059A>C (p.Arg687=)
c.1876A>C (p.Arg626=)
c.4108A>C (p.Arg1370=)
c.4060A>C (p.Arg1354=)
c.3829A>C (p.Arg1277=)
c.3730A>C (p.Arg1244=)
c.2911A>C (p.Arg971=)
n.4462A>C
13g.51934911T=CA2091550397ATP7Bc.*1893A= (n.*1893A=)
c.*2987A= (n.*2987A=)
c.3622A= (p.Arg1208=)
c.4243A= (p.Arg1415=)
c.3910A= (p.Arg1304=)
c.3991A= (p.Arg1331=)
n.1566A=
c.4009A= (p.Arg1337=)
n.4382A=
n.1109A=
c.3178A= (p.Arg1060=)
c.2953A= (p.Arg985=)
c.4048A= (p.Arg1350=)
c.2021A=
c.*1344A= (n.*1344A=)
n.4987A=
n.3588A=
c.4099A= (p.Arg1367=)
c.4147A= (p.Arg1383=)
c.4207A= (p.Arg1403=)
c.3757A= (p.Arg1253=)
c.2059A= (p.Arg687=)
c.1876A= (p.Arg626=)
c.4108A= (p.Arg1370=)
c.4060A= (p.Arg1354=)
c.3829A= (p.Arg1277=)
c.3730A= (p.Arg1244=)
c.2911A= (p.Arg971=)
n.4462A=
13g.51934911_51934912delinsTGCA2091550399ATP7Bc.*1892_*1893delinsCA (n.*1892_*1893delinsCA)
c.*2986_*2987delinsCA (n.*2986_*2987delinsCA)
c.3621_3622delinsCA (p.Pro1207=)
c.4242_4243delinsCA (p.Pro1414=)
c.3909_3910delinsCA (p.Pro1303=)
c.3990_3991delinsCA (p.Pro1330=)
n.1565_1566delinsCA
c.4008_4009delinsCA (p.Pro1336=)
n.4381_4382delinsCA
n.1108_1109delinsCA
c.3177_3178delinsCA (p.Pro1059=)
c.2952_2953delinsCA (p.Pro984=)
c.4047_4048delinsCA (p.Pro1349=)
c.2020_2021delinsCA
c.*1343_*1344delinsCA (n.*1343_*1344delinsCA)
n.4986_4987delinsCA
n.3587_3588delinsCA
c.4098_4099delinsCA (p.Pro1366=)
c.4146_4147delinsCA (p.Pro1382=)
c.4206_4207delinsCA (p.Pro1402=)
c.3756_3757delinsCA (p.Pro1252=)
c.2058_2059delinsCA (p.Pro686=)
c.1875_1876delinsCA (p.Pro625=)
c.4107_4108delinsCA (p.Pro1369=)
c.4059_4060delinsCA (p.Pro1353=)
c.3828_3829delinsCA (p.Pro1276=)
c.3729_3730delinsCA (p.Pro1243=)
c.2910_2911delinsCA (p.Pro970=)
n.4461_4462delinsCA
13g.51934912G>ACA6988448ATP7Bc.*1892C>T (n.*1892C>T)
c.*2986C>T (n.*2986C>T)
c.3621C>T (p.Pro1207=)
c.4242C>T (p.Pro1414=)
c.3909C>T (p.Pro1303=)
c.3990C>T (p.Pro1330=)
n.1565C>T
c.4008C>T (p.Pro1336=)
n.4381C>T
n.1108C>T
c.3177C>T (p.Pro1059=)
c.2952C>T (p.Pro984=)
c.4047C>T (p.Pro1349=)
c.2020C>T
c.*1343C>T (n.*1343C>T)
n.4986C>T
n.3587C>T
c.4098C>T (p.Pro1366=)
c.4146C>T (p.Pro1382=)
c.4206C>T (p.Pro1402=)
c.3756C>T (p.Pro1252=)
c.2058C>T (p.Pro686=)
c.1875C>T (p.Pro625=)
c.4107C>T (p.Pro1369=)
c.4059C>T (p.Pro1353=)
c.3828C>T (p.Pro1276=)
c.3729C>T (p.Pro1243=)
c.2910C>T (p.Pro970=)
n.4461C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934912G>CCA484024173ATP7Bc.*1892C>G (n.*1892C>G)
c.*2986C>G (n.*2986C>G)
c.3621C>G (p.Pro1207=)
c.4242C>G (p.Pro1414=)
c.3909C>G (p.Pro1303=)
c.3990C>G (p.Pro1330=)
n.1565C>G
c.4008C>G (p.Pro1336=)
n.4381C>G
n.1108C>G
c.3177C>G (p.Pro1059=)
c.2952C>G (p.Pro984=)
c.4047C>G (p.Pro1349=)
c.2020C>G
c.*1343C>G (n.*1343C>G)
n.4986C>G
n.3587C>G
c.4098C>G (p.Pro1366=)
c.4146C>G (p.Pro1382=)
c.4206C>G (p.Pro1402=)
c.3756C>G (p.Pro1252=)
c.2058C>G (p.Pro686=)
c.1875C>G (p.Pro625=)
c.4107C>G (p.Pro1369=)
c.4059C>G (p.Pro1353=)
c.3828C>G (p.Pro1276=)
c.3729C>G (p.Pro1243=)
c.2910C>G (p.Pro970=)
n.4461C>G
13g.51934912G=CA2091550405ATP7Bc.*1892C= (n.*1892C=)
c.*2986C= (n.*2986C=)
c.3621C= (p.Pro1207=)
c.4242C= (p.Pro1414=)
c.3909C= (p.Pro1303=)
c.3990C= (p.Pro1330=)
n.1565C=
c.4008C= (p.Pro1336=)
n.4381C=
n.1108C=
c.3177C= (p.Pro1059=)
c.2952C= (p.Pro984=)
c.4047C= (p.Pro1349=)
c.2020C=
c.*1343C= (n.*1343C=)
n.4986C=
n.3587C=
c.4098C= (p.Pro1366=)
c.4146C= (p.Pro1382=)
c.4206C= (p.Pro1402=)
c.3756C= (p.Pro1252=)
c.2058C= (p.Pro686=)
c.1875C= (p.Pro625=)
c.4107C= (p.Pro1369=)
c.4059C= (p.Pro1353=)
c.3828C= (p.Pro1276=)
c.3729C= (p.Pro1243=)
c.2910C= (p.Pro970=)
n.4461C=
13g.51934912G>TCA484024174ATP7Bc.*1892C>A (n.*1892C>A)
c.*2986C>A (n.*2986C>A)
c.3621C>A (p.Pro1207=)
c.4242C>A (p.Pro1414=)
c.3909C>A (p.Pro1303=)
c.3990C>A (p.Pro1330=)
n.1565C>A
c.4008C>A (p.Pro1336=)
n.4381C>A
n.1108C>A
c.3177C>A (p.Pro1059=)
c.2952C>A (p.Pro984=)
c.4047C>A (p.Pro1349=)
c.2020C>A
c.*1343C>A (n.*1343C>A)
n.4986C>A
n.3587C>A
c.4098C>A (p.Pro1366=)
c.4146C>A (p.Pro1382=)
c.4206C>A (p.Pro1402=)
c.3756C>A (p.Pro1252=)
c.2058C>A (p.Pro686=)
c.1875C>A (p.Pro625=)
c.4107C>A (p.Pro1369=)
c.4059C>A (p.Pro1353=)
c.3828C>A (p.Pro1276=)
c.3729C>A (p.Pro1243=)
c.2910C>A (p.Pro970=)
n.4461C>A
13g.51934916delCA16041659ATP7Bc.*1892del (n.*1892del)
c.*2986del (n.*2986del)
c.3621del (p.Arg1208GlyfsTer19)
c.4242del (p.Arg1415GlyfsTer19)
c.3909del (p.Arg1304GlyfsTer19)
c.3990del (p.Arg1331GlyfsTer19)
n.1565del
c.4008del (p.Arg1337GlyfsTer19)
n.4381del
n.1108del
c.3177del (p.Arg1060GlyfsTer19)
c.2952del (p.Arg985GlyfsTer19)
c.4047del (p.Arg1350GlyfsTer19)
c.2020del
c.*1343del (n.*1343del)
n.4986del
n.3587del
c.4098del (p.Arg1367GlyfsTer19)
c.4146del (p.Arg1383GlyfsTer19)
c.4206del (p.Arg1403GlyfsTer19)
c.3756del (p.Arg1253GlyfsTer19)
c.2058del (p.Arg687GlyfsTer19)
c.1875del (p.Arg626GlyfsTer19)
c.4107del (p.Arg1370GlyfsTer19)
c.4059del (p.Arg1354GlyfsTer19)
c.3828del (p.Arg1277GlyfsTer19)
c.3729del (p.Arg1244GlyfsTer19)
c.2910del (p.Arg971GlyfsTer19)
n.4461del
 ClinVar dbSNP
13g.51934913G>ACA6988449ATP7Bc.*1891C>T (n.*1891C>T)
c.*2985C>T (n.*2985C>T)
c.3620C>T (p.Pro1207Leu)
c.4241C>T (p.Pro1414Leu)
c.3908C>T (p.Pro1303Leu)
c.3989C>T (p.Pro1330Leu)
n.1564C>T
c.4007C>T (p.Pro1336Leu)
n.4380C>T
n.1107C>T
c.3176C>T (p.Pro1059Leu)
c.2951C>T (p.Pro984Leu)
c.4046C>T (p.Pro1349Leu)
c.2019C>T
c.*1342C>T (n.*1342C>T)
n.4985C>T
n.3586C>T
c.4097C>T (p.Pro1366Leu)
c.4145C>T (p.Pro1382Leu)
c.4205C>T (p.Pro1402Leu)
c.3755C>T (p.Pro1252Leu)
c.2057C>T (p.Pro686Leu)
c.1874C>T (p.Pro625Leu)
c.4106C>T (p.Pro1369Leu)
c.4058C>T (p.Pro1353Leu)
c.3827C>T (p.Pro1276Leu)
c.3728C>T (p.Pro1243Leu)
c.2909C>T (p.Pro970Leu)
n.4460C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934913G>CCA388019431ATP7Bc.*1891C>G (n.*1891C>G)
c.*2985C>G (n.*2985C>G)
c.3620C>G (p.Pro1207Arg)
c.4241C>G (p.Pro1414Arg)
c.3908C>G (p.Pro1303Arg)
c.3989C>G (p.Pro1330Arg)
n.1564C>G
c.4007C>G (p.Pro1336Arg)
n.4380C>G
n.1107C>G
c.3176C>G (p.Pro1059Arg)
c.2951C>G (p.Pro984Arg)
c.4046C>G (p.Pro1349Arg)
c.2019C>G
c.*1342C>G (n.*1342C>G)
n.4985C>G
n.3586C>G
c.4097C>G (p.Pro1366Arg)
c.4145C>G (p.Pro1382Arg)
c.4205C>G (p.Pro1402Arg)
c.3755C>G (p.Pro1252Arg)
c.2057C>G (p.Pro686Arg)
c.1874C>G (p.Pro625Arg)
c.4106C>G (p.Pro1369Arg)
c.4058C>G (p.Pro1353Arg)
c.3827C>G (p.Pro1276Arg)
c.3728C>G (p.Pro1243Arg)
c.2909C>G (p.Pro970Arg)
n.4460C>G
 gnomAD v4
13g.51934913G=CA2091550408ATP7Bc.*1891C= (n.*1891C=)
c.*2985C= (n.*2985C=)
c.3620C= (p.Pro1207=)
c.4241C= (p.Pro1414=)
c.3908C= (p.Pro1303=)
c.3989C= (p.Pro1330=)
n.1564C=
c.4007C= (p.Pro1336=)
n.4380C=
n.1107C=
c.3176C= (p.Pro1059=)
c.2951C= (p.Pro984=)
c.4046C= (p.Pro1349=)
c.2019C=
c.*1342C= (n.*1342C=)
n.4985C=
n.3586C=
c.4097C= (p.Pro1366=)
c.4145C= (p.Pro1382=)
c.4205C= (p.Pro1402=)
c.3755C= (p.Pro1252=)
c.2057C= (p.Pro686=)
c.1874C= (p.Pro625=)
c.4106C= (p.Pro1369=)
c.4058C= (p.Pro1353=)
c.3827C= (p.Pro1276=)
c.3728C= (p.Pro1243=)
c.2909C= (p.Pro970=)
n.4460C=
13g.51934913G>TCA250071623ATP7Bc.*1891C>A (n.*1891C>A)
c.*2985C>A (n.*2985C>A)
c.3620C>A (p.Pro1207His)
c.4241C>A (p.Pro1414His)
c.3908C>A (p.Pro1303His)
c.3989C>A (p.Pro1330His)
n.1564C>A
c.4007C>A (p.Pro1336His)
n.4380C>A
n.1107C>A
c.3176C>A (p.Pro1059His)
c.2951C>A (p.Pro984His)
c.4046C>A (p.Pro1349His)
c.2019C>A
c.*1342C>A (n.*1342C>A)
n.4985C>A
n.3586C>A
c.4097C>A (p.Pro1366His)
c.4145C>A (p.Pro1382His)
c.4205C>A (p.Pro1402His)
c.3755C>A (p.Pro1252His)
c.2057C>A (p.Pro686His)
c.1874C>A (p.Pro625His)
c.4106C>A (p.Pro1369His)
c.4058C>A (p.Pro1353His)
c.3827C>A (p.Pro1276His)
c.3728C>A (p.Pro1243His)
c.2909C>A (p.Pro970His)
n.4460C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51934914G>ACA388019434ATP7Bc.*1890C>T (n.*1890C>T)
c.*2984C>T (n.*2984C>T)
c.3619C>T (p.Pro1207Ser)
c.4240C>T (p.Pro1414Ser)
c.3907C>T (p.Pro1303Ser)
c.3988C>T (p.Pro1330Ser)
n.1563C>T
c.4006C>T (p.Pro1336Ser)
n.4379C>T
n.1106C>T
c.3175C>T (p.Pro1059Ser)
c.2950C>T (p.Pro984Ser)
c.4045C>T (p.Pro1349Ser)
c.2018C>T
c.*1341C>T (n.*1341C>T)
n.4984C>T
n.3585C>T
c.4096C>T (p.Pro1366Ser)
c.4144C>T (p.Pro1382Ser)
c.4204C>T (p.Pro1402Ser)
c.3754C>T (p.Pro1252Ser)
c.2056C>T (p.Pro686Ser)
c.1873C>T (p.Pro625Ser)
c.4105C>T (p.Pro1369Ser)
c.4057C>T (p.Pro1353Ser)
c.3826C>T (p.Pro1276Ser)
c.3727C>T (p.Pro1243Ser)
c.2908C>T (p.Pro970Ser)
n.4459C>T
 gnomAD v4 COSMIC
13g.51934914G>CCA388019436ATP7Bc.*1890C>G (n.*1890C>G)
c.*2984C>G (n.*2984C>G)
c.3619C>G (p.Pro1207Ala)
c.4240C>G (p.Pro1414Ala)
c.3907C>G (p.Pro1303Ala)
c.3988C>G (p.Pro1330Ala)
n.1563C>G
c.4006C>G (p.Pro1336Ala)
n.4379C>G
n.1106C>G
c.3175C>G (p.Pro1059Ala)
c.2950C>G (p.Pro984Ala)
c.4045C>G (p.Pro1349Ala)
c.2018C>G
c.*1341C>G (n.*1341C>G)
n.4984C>G
n.3585C>G
c.4096C>G (p.Pro1366Ala)
c.4144C>G (p.Pro1382Ala)
c.4204C>G (p.Pro1402Ala)
c.3754C>G (p.Pro1252Ala)
c.2056C>G (p.Pro686Ala)
c.1873C>G (p.Pro625Ala)
c.4105C>G (p.Pro1369Ala)
c.4057C>G (p.Pro1353Ala)
c.3826C>G (p.Pro1276Ala)
c.3727C>G (p.Pro1243Ala)
c.2908C>G (p.Pro970Ala)
n.4459C>G
13g.51934914G>TCA388019438ATP7Bc.*1890C>A (n.*1890C>A)
c.*2984C>A (n.*2984C>A)
c.3619C>A (p.Pro1207Thr)
c.4240C>A (p.Pro1414Thr)
c.3907C>A (p.Pro1303Thr)
c.3988C>A (p.Pro1330Thr)
n.1563C>A
c.4006C>A (p.Pro1336Thr)
n.4379C>A
n.1106C>A
c.3175C>A (p.Pro1059Thr)
c.2950C>A (p.Pro984Thr)
c.4045C>A (p.Pro1349Thr)
c.2018C>A
c.*1341C>A (n.*1341C>A)
n.4984C>A
n.3585C>A
c.4096C>A (p.Pro1366Thr)
c.4144C>A (p.Pro1382Thr)
c.4204C>A (p.Pro1402Thr)
c.3754C>A (p.Pro1252Thr)
c.2056C>A (p.Pro686Thr)
c.1873C>A (p.Pro625Thr)
c.4105C>A (p.Pro1369Thr)
c.4057C>A (p.Pro1353Thr)
c.3826C>A (p.Pro1276Thr)
c.3727C>A (p.Pro1243Thr)
c.2908C>A (p.Pro970Thr)
n.4459C>A
13g.51934915G>ACA484024175ATP7Bc.*1889C>T (n.*1889C>T)
c.*2983C>T (n.*2983C>T)
c.3618C>T (p.Ser1206=)
c.4239C>T (p.Ser1413=)
c.3906C>T (p.Ser1302=)
c.3987C>T (p.Ser1329=)
n.1562C>T
c.4005C>T (p.Ser1335=)
n.4378C>T
n.1105C>T
c.3174C>T (p.Ser1058=)
c.2949C>T (p.Ser983=)
c.4044C>T (p.Ser1348=)
c.2017C>T
c.*1340C>T (n.*1340C>T)
n.4983C>T
n.3584C>T
c.4095C>T (p.Ser1365=)
c.4143C>T (p.Ser1381=)
c.4203C>T (p.Ser1401=)
c.3753C>T (p.Ser1251=)
c.2055C>T (p.Ser685=)
c.1872C>T (p.Ser624=)
c.4104C>T (p.Ser1368=)
c.4056C>T (p.Ser1352=)
c.3825C>T (p.Ser1275=)
c.3726C>T (p.Ser1242=)
c.2907C>T (p.Ser969=)
n.4458C>T
 ClinVar
13g.51934915G>CCA484024176ATP7Bc.*1889C>G (n.*1889C>G)
c.*2983C>G (n.*2983C>G)
c.3618C>G (p.Ser1206=)
c.4239C>G (p.Ser1413=)
c.3906C>G (p.Ser1302=)
c.3987C>G (p.Ser1329=)
n.1562C>G
c.4005C>G (p.Ser1335=)
n.4378C>G
n.1105C>G
c.3174C>G (p.Ser1058=)
c.2949C>G (p.Ser983=)
c.4044C>G (p.Ser1348=)
c.2017C>G
c.*1340C>G (n.*1340C>G)
n.4983C>G
n.3584C>G
c.4095C>G (p.Ser1365=)
c.4143C>G (p.Ser1381=)
c.4203C>G (p.Ser1401=)
c.3753C>G (p.Ser1251=)
c.2055C>G (p.Ser685=)
c.1872C>G (p.Ser624=)
c.4104C>G (p.Ser1368=)
c.4056C>G (p.Ser1352=)
c.3825C>G (p.Ser1275=)
c.3726C>G (p.Ser1242=)
c.2907C>G (p.Ser969=)
n.4458C>G
13g.51934915G>TCA484024177ATP7Bc.*1889C>A (n.*1889C>A)
c.*2983C>A (n.*2983C>A)
c.3618C>A (p.Ser1206=)
c.4239C>A (p.Ser1413=)
c.3906C>A (p.Ser1302=)
c.3987C>A (p.Ser1329=)
n.1562C>A
c.4005C>A (p.Ser1335=)
n.4378C>A
n.1105C>A
c.3174C>A (p.Ser1058=)
c.2949C>A (p.Ser983=)
c.4044C>A (p.Ser1348=)
c.2017C>A
c.*1340C>A (n.*1340C>A)
n.4983C>A
n.3584C>A
c.4095C>A (p.Ser1365=)
c.4143C>A (p.Ser1381=)
c.4203C>A (p.Ser1401=)
c.3753C>A (p.Ser1251=)
c.2055C>A (p.Ser685=)
c.1872C>A (p.Ser624=)
c.4104C>A (p.Ser1368=)
c.4056C>A (p.Ser1352=)
c.3825C>A (p.Ser1275=)
c.3726C>A (p.Ser1242=)
c.2907C>A (p.Ser969=)
n.4458C>A
13g.51934916G>ACA388019441ATP7Bc.*1888C>T (n.*1888C>T)
c.*2982C>T (n.*2982C>T)
c.3617C>T (p.Ser1206Phe)
c.4238C>T (p.Ser1413Phe)
c.3905C>T (p.Ser1302Phe)
c.3986C>T (p.Ser1329Phe)
n.1561C>T
c.4004C>T (p.Ser1335Phe)
n.4377C>T
n.1104C>T
c.3173C>T (p.Ser1058Phe)
c.2948C>T (p.Ser983Phe)
c.4043C>T (p.Ser1348Phe)
c.2016C>T
c.*1339C>T (n.*1339C>T)
n.4982C>T
n.3583C>T
c.4094C>T (p.Ser1365Phe)
c.4142C>T (p.Ser1381Phe)
c.4202C>T (p.Ser1401Phe)
c.3752C>T (p.Ser1251Phe)
c.2054C>T (p.Ser685Phe)
c.1871C>T (p.Ser624Phe)
c.4103C>T (p.Ser1368Phe)
c.4055C>T (p.Ser1352Phe)
c.3824C>T (p.Ser1275Phe)
c.3725C>T (p.Ser1242Phe)
c.2906C>T (p.Ser969Phe)
n.4457C>T
13g.51934916G>CCA388019443ATP7Bc.*1888C>G (n.*1888C>G)
c.*2982C>G (n.*2982C>G)
c.3617C>G (p.Ser1206Cys)
c.4238C>G (p.Ser1413Cys)
c.3905C>G (p.Ser1302Cys)
c.3986C>G (p.Ser1329Cys)
n.1561C>G
c.4004C>G (p.Ser1335Cys)
n.4377C>G
n.1104C>G
c.3173C>G (p.Ser1058Cys)
c.2948C>G (p.Ser983Cys)
c.4043C>G (p.Ser1348Cys)
c.2016C>G
c.*1339C>G (n.*1339C>G)
n.4982C>G
n.3583C>G
c.4094C>G (p.Ser1365Cys)
c.4142C>G (p.Ser1381Cys)
c.4202C>G (p.Ser1401Cys)
c.3752C>G (p.Ser1251Cys)
c.2054C>G (p.Ser685Cys)
c.1871C>G (p.Ser624Cys)
c.4103C>G (p.Ser1368Cys)
c.4055C>G (p.Ser1352Cys)
c.3824C>G (p.Ser1275Cys)
c.3725C>G (p.Ser1242Cys)
c.2906C>G (p.Ser969Cys)
n.4457C>G
13g.51934916G>TCA388019445ATP7Bc.*1888C>A (n.*1888C>A)
c.*2982C>A (n.*2982C>A)
c.3617C>A (p.Ser1206Tyr)
c.4238C>A (p.Ser1413Tyr)
c.3905C>A (p.Ser1302Tyr)
c.3986C>A (p.Ser1329Tyr)
n.1561C>A
c.4004C>A (p.Ser1335Tyr)
n.4377C>A
n.1104C>A
c.3173C>A (p.Ser1058Tyr)
c.2948C>A (p.Ser983Tyr)
c.4043C>A (p.Ser1348Tyr)
c.2016C>A
c.*1339C>A (n.*1339C>A)
n.4982C>A
n.3583C>A
c.4094C>A (p.Ser1365Tyr)
c.4142C>A (p.Ser1381Tyr)
c.4202C>A (p.Ser1401Tyr)
c.3752C>A (p.Ser1251Tyr)
c.2054C>A (p.Ser685Tyr)
c.1871C>A (p.Ser624Tyr)
c.4103C>A (p.Ser1368Tyr)
c.4055C>A (p.Ser1352Tyr)
c.3824C>A (p.Ser1275Tyr)
c.3725C>A (p.Ser1242Tyr)
c.2906C>A (p.Ser969Tyr)
n.4457C>A
 gnomAD v4
13g.51934917A=CA2091550414ATP7Bc.*1887T= (n.*1887T=)
c.*2981T= (n.*2981T=)
c.3616T= (p.Ser1206=)
c.4237T= (p.Ser1413=)
c.3904T= (p.Ser1302=)
c.3985T= (p.Ser1329=)
n.1560T=
c.4003T= (p.Ser1335=)
n.4376T=
n.1103T=
c.3172T= (p.Ser1058=)
c.2947T= (p.Ser983=)
c.4042T= (p.Ser1348=)
c.2015T=
c.*1338T= (n.*1338T=)
n.4981T=
n.3582T=
c.4093T= (p.Ser1365=)
c.4141T= (p.Ser1381=)
c.4201T= (p.Ser1401=)
c.3751T= (p.Ser1251=)
c.2053T= (p.Ser685=)
c.1870T= (p.Ser624=)
c.4102T= (p.Ser1368=)
c.4054T= (p.Ser1352=)
c.3823T= (p.Ser1275=)
c.3724T= (p.Ser1242=)
c.2905T= (p.Ser969=)
n.4456T=
13g.51934917A>CCA388019448ATP7Bc.*1887T>G (n.*1887T>G)
c.*2981T>G (n.*2981T>G)
c.3616T>G (p.Ser1206Ala)
c.4237T>G (p.Ser1413Ala)
c.3904T>G (p.Ser1302Ala)
c.3985T>G (p.Ser1329Ala)
n.1560T>G
c.4003T>G (p.Ser1335Ala)
n.4376T>G
n.1103T>G
c.3172T>G (p.Ser1058Ala)
c.2947T>G (p.Ser983Ala)
c.4042T>G (p.Ser1348Ala)
c.2015T>G
c.*1338T>G (n.*1338T>G)
n.4981T>G
n.3582T>G
c.4093T>G (p.Ser1365Ala)
c.4141T>G (p.Ser1381Ala)
c.4201T>G (p.Ser1401Ala)
c.3751T>G (p.Ser1251Ala)
c.2053T>G (p.Ser685Ala)
c.1870T>G (p.Ser624Ala)
c.4102T>G (p.Ser1368Ala)
c.4054T>G (p.Ser1352Ala)
c.3823T>G (p.Ser1275Ala)
c.3724T>G (p.Ser1242Ala)
c.2905T>G (p.Ser969Ala)
n.4456T>G
 dbSNP gnomAD v4
13g.51934917A>GCA6988450ATP7Bc.*1887T>C (n.*1887T>C)
c.*2981T>C (n.*2981T>C)
c.3616T>C (p.Ser1206Pro)
c.4237T>C (p.Ser1413Pro)
c.3904T>C (p.Ser1302Pro)
c.3985T>C (p.Ser1329Pro)
n.1560T>C
c.4003T>C (p.Ser1335Pro)
n.4376T>C
n.1103T>C
c.3172T>C (p.Ser1058Pro)
c.2947T>C (p.Ser983Pro)
c.4042T>C (p.Ser1348Pro)
c.2015T>C
c.*1338T>C (n.*1338T>C)
n.4981T>C
n.3582T>C
c.4093T>C (p.Ser1365Pro)
c.4141T>C (p.Ser1381Pro)
c.4201T>C (p.Ser1401Pro)
c.3751T>C (p.Ser1251Pro)
c.2053T>C (p.Ser685Pro)
c.1870T>C (p.Ser624Pro)
c.4102T>C (p.Ser1368Pro)
c.4054T>C (p.Ser1352Pro)
c.3823T>C (p.Ser1275Pro)
c.3724T>C (p.Ser1242Pro)
c.2905T>C (p.Ser969Pro)
n.4456T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51934917A>TCA388019451ATP7Bc.*1887T>A (n.*1887T>A)
c.*2981T>A (n.*2981T>A)
c.3616T>A (p.Ser1206Thr)
c.4237T>A (p.Ser1413Thr)
c.3904T>A (p.Ser1302Thr)
c.3985T>A (p.Ser1329Thr)
n.1560T>A
c.4003T>A (p.Ser1335Thr)
n.4376T>A
n.1103T>A
c.3172T>A (p.Ser1058Thr)
c.2947T>A (p.Ser983Thr)
c.4042T>A (p.Ser1348Thr)
c.2015T>A
c.*1338T>A (n.*1338T>A)
n.4981T>A
n.3582T>A
c.4093T>A (p.Ser1365Thr)
c.4141T>A (p.Ser1381Thr)
c.4201T>A (p.Ser1401Thr)
c.3751T>A (p.Ser1251Thr)
c.2053T>A (p.Ser685Thr)
c.1870T>A (p.Ser624Thr)
c.4102T>A (p.Ser1368Thr)
c.4054T>A (p.Ser1352Thr)
c.3823T>A (p.Ser1275Thr)
c.3724T>A (p.Ser1242Thr)
c.2905T>A (p.Ser969Thr)
n.4456T>A

Number of alleles fetched