Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937350_51937355delinsTCTCA2499222484ATP7Bc.*1592_*1597delinsAGA (n.*1592_*1597delinsAGA)
c.*2686_*2691delinsAGA (n.*2686_*2691delinsAGA)
c.3321_3326delinsAGA (p.Lys1108_Arg1109delinsGlu)
c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu)
c.3609_3614delinsAGA (p.Lys1204_Arg1205delinsGlu)
c.3690_3695delinsAGA (p.Lys1231_Arg1232delinsGlu)
n.1265_1270delinsAGA
c.3708_3713delinsAGA (p.Lys1237_Arg1238delinsGlu)
n.4081_4086delinsAGA
n.808_813delinsAGA
c.2877_2882delinsAGA (p.Lys960_Arg961delinsGlu)
c.2652_2657delinsAGA (p.Lys885_Arg886delinsGlu)
c.3747_3752delinsAGA (p.Lys1250_Arg1251delinsGlu)
c.1720_1725delinsAGA
c.*1043_*1048delinsAGA (n.*1043_*1048delinsAGA)
n.4686_4691delinsAGA
n.3287_3292delinsAGA
c.3798_3803delinsAGA (p.Lys1267_Arg1268delinsGlu)
c.3846_3851delinsAGA (p.Lys1283_Arg1284delinsGlu)
c.3906_3911delinsAGA (p.Lys1303_Arg1304delinsGlu)
c.3456_3461delinsAGA (p.Lys1153_Arg1154delinsGlu)
c.1758_1763delinsAGA (p.Lys587_Arg588delinsGlu)
c.1575_1580delinsAGA (p.Lys526_Arg527delinsGlu)
c.3807_3812delinsAGA (p.Lys1270_Arg1271delinsGlu)
c.3759_3764delinsAGA (p.Lys1254_Arg1255delinsGlu)
c.3528_3533delinsAGA (p.Lys1177_Arg1178delinsGlu)
c.3429_3434delinsAGA (p.Lys1144_Arg1145delinsGlu)
c.2610_2615delinsAGA (p.Lys871_Arg872delinsGlu)
n.4161_4166delinsAGA
ClinVar dbSNP
13g.51937354_51937369delCA2623119065ATP7Bc.*1580_*1595del (n.*1580_*1595del)
c.*2674_*2689del (n.*2674_*2689del)
c.3309_3324del (p.Ser1103ArgfsTer15)
c.3930_3945del (p.Ser1310ArgfsTer15)
c.3597_3612del (p.Ser1199ArgfsTer15)
c.3678_3693del (p.Ser1226ArgfsTer15)
n.1253_1268del
c.3696_3711del (p.Ser1232ArgfsTer15)
n.4069_4084del
n.796_811del
c.2865_2880del (p.Ser955ArgfsTer15)
c.2640_2655del (p.Ser880ArgfsTer15)
c.3735_3750del (p.Ser1245ArgfsTer15)
c.1708_1723del
c.*1031_*1046del (n.*1031_*1046del)
n.4674_4689del
n.3275_3290del
c.3786_3801del (p.Ser1262ArgfsTer15)
c.3834_3849del (p.Ser1278ArgfsTer15)
c.3894_3909del (p.Ser1298ArgfsTer15)
c.3444_3459del (p.Ser1148ArgfsTer15)
c.1746_1761del (p.Ser582ArgfsTer15)
c.1563_1578del (p.Ser521ArgfsTer15)
c.3795_3810del (p.Ser1265ArgfsTer15)
c.3747_3762del (p.Ser1249ArgfsTer15)
c.3516_3531del (p.Ser1172ArgfsTer15)
c.3417_3432del (p.Ser1139ArgfsTer15)
c.2598_2613del (p.Ser866ArgfsTer15)
n.4149_4164del
gnomAD v4
13g.51937353_51937355delinsTTGCA2091553487ATP7Bc.*1592_*1594delinsCAA (n.*1592_*1594delinsCAA)
c.*2686_*2688delinsCAA (n.*2686_*2688delinsCAA)
c.3321_3323delinsCAA (p.Ser1107=)
c.3942_3944delinsCAA (p.Ser1314=)
c.3609_3611delinsCAA (p.Ser1203=)
c.3690_3692delinsCAA (p.Ser1230=)
n.1265_1267delinsCAA
c.3708_3710delinsCAA (p.Ser1236=)
n.4081_4083delinsCAA
n.808_810delinsCAA
c.2877_2879delinsCAA (p.Ser959=)
c.2652_2654delinsCAA (p.Ser884=)
c.3747_3749delinsCAA (p.Ser1249=)
c.1720_1722delinsCAA
c.*1043_*1045delinsCAA (n.*1043_*1045delinsCAA)
n.4686_4688delinsCAA
n.3287_3289delinsCAA
c.3798_3800delinsCAA (p.Ser1266=)
c.3846_3848delinsCAA (p.Ser1282=)
c.3906_3908delinsCAA (p.Ser1302=)
c.3456_3458delinsCAA (p.Ser1152=)
c.1758_1760delinsCAA (p.Ser586=)
c.1575_1577delinsCAA (p.Ser525=)
c.3807_3809delinsCAA (p.Ser1269=)
c.3759_3761delinsCAA (p.Ser1253=)
c.3528_3530delinsCAA (p.Ser1176=)
c.3429_3431delinsCAA (p.Ser1143=)
c.2610_2612delinsCAA (p.Ser870=)
n.4161_4163delinsCAA
13g.51937354T>ACA388021137ATP7Bc.*1593A>T (n.*1593A>T)
c.*2687A>T (n.*2687A>T)
c.3322A>T (p.Lys1108Ter)
c.3943A>T (p.Lys1315Ter)
c.3610A>T (p.Lys1204Ter)
c.3691A>T (p.Lys1231Ter)
n.1266A>T
c.3709A>T (p.Lys1237Ter)
n.4082A>T
n.809A>T
c.2878A>T (p.Lys960Ter)
c.2653A>T (p.Lys885Ter)
c.3748A>T (p.Lys1250Ter)
c.1721A>T
c.*1044A>T (n.*1044A>T)
n.4687A>T
n.3288A>T
c.3799A>T (p.Lys1267Ter)
c.3847A>T (p.Lys1283Ter)
c.3907A>T (p.Lys1303Ter)
c.3457A>T (p.Lys1153Ter)
c.1759A>T (p.Lys587Ter)
c.1576A>T (p.Lys526Ter)
c.3808A>T (p.Lys1270Ter)
c.3760A>T (p.Lys1254Ter)
c.3529A>T (p.Lys1177Ter)
c.3430A>T (p.Lys1144Ter)
c.2611A>T (p.Lys871Ter)
n.4162A>T
13g.51937354T>CCA388021139ATP7Bc.*1593A>G (n.*1593A>G)
c.*2687A>G (n.*2687A>G)
c.3322A>G (p.Lys1108Glu)
c.3943A>G (p.Lys1315Glu)
c.3610A>G (p.Lys1204Glu)
c.3691A>G (p.Lys1231Glu)
n.1266A>G
c.3709A>G (p.Lys1237Glu)
n.4082A>G
n.809A>G
c.2878A>G (p.Lys960Glu)
c.2653A>G (p.Lys885Glu)
c.3748A>G (p.Lys1250Glu)
c.1721A>G
c.*1044A>G (n.*1044A>G)
n.4687A>G
n.3288A>G
c.3799A>G (p.Lys1267Glu)
c.3847A>G (p.Lys1283Glu)
c.3907A>G (p.Lys1303Glu)
c.3457A>G (p.Lys1153Glu)
c.1759A>G (p.Lys587Glu)
c.1576A>G (p.Lys526Glu)
c.3808A>G (p.Lys1270Glu)
c.3760A>G (p.Lys1254Glu)
c.3529A>G (p.Lys1177Glu)
c.3430A>G (p.Lys1144Glu)
c.2611A>G (p.Lys871Glu)
n.4162A>G
13g.51937354T>GCA388021135ATP7Bc.*1593A>C (n.*1593A>C)
c.*2687A>C (n.*2687A>C)
c.3322A>C (p.Lys1108Gln)
c.3943A>C (p.Lys1315Gln)
c.3610A>C (p.Lys1204Gln)
c.3691A>C (p.Lys1231Gln)
n.1266A>C
c.3709A>C (p.Lys1237Gln)
n.4082A>C
n.809A>C
c.2878A>C (p.Lys960Gln)
c.2653A>C (p.Lys885Gln)
c.3748A>C (p.Lys1250Gln)
c.1721A>C
c.*1044A>C (n.*1044A>C)
n.4687A>C
n.3288A>C
c.3799A>C (p.Lys1267Gln)
c.3847A>C (p.Lys1283Gln)
c.3907A>C (p.Lys1303Gln)
c.3457A>C (p.Lys1153Gln)
c.1759A>C (p.Lys587Gln)
c.1576A>C (p.Lys526Gln)
c.3808A>C (p.Lys1270Gln)
c.3760A>C (p.Lys1254Gln)
c.3529A>C (p.Lys1177Gln)
c.3430A>C (p.Lys1144Gln)
c.2611A>C (p.Lys871Gln)
n.4162A>C
13g.51937354_51937355delCA16041662ATP7Bc.*1592_*1593del (n.*1592_*1593del)
c.*2686_*2687del (n.*2686_*2687del)
c.3321_3322del (p.Lys1108GlufsTer17)
c.3942_3943del (p.Lys1315GlufsTer17)
c.3609_3610del (p.Lys1204GlufsTer17)
c.3690_3691del (p.Lys1231GlufsTer17)
n.1265_1266del
c.3708_3709del (p.Lys1237GlufsTer17)
n.4081_4082del
n.808_809del
c.2877_2878del (p.Lys960GlufsTer17)
c.2652_2653del (p.Lys885GlufsTer17)
c.3747_3748del (p.Lys1250GlufsTer17)
c.1720_1721del
c.*1043_*1044del (n.*1043_*1044del)
n.4686_4687del
n.3287_3288del
c.3798_3799del (p.Lys1267GlufsTer17)
c.3846_3847del (p.Lys1283GlufsTer17)
c.3906_3907del (p.Lys1303GlufsTer17)
c.3456_3457del (p.Lys1153GlufsTer17)
c.1758_1759del (p.Lys587GlufsTer17)
c.1575_1576del (p.Lys526GlufsTer17)
c.3807_3808del (p.Lys1270GlufsTer17)
c.3759_3760del (p.Lys1254GlufsTer17)
c.3528_3529del (p.Lys1177GlufsTer17)
c.3429_3430del (p.Lys1144GlufsTer17)
c.2610_2611del (p.Lys871GlufsTer17)
n.4161_4162del
ClinVar dbSNP gnomAD v4
13g.51937355G>ACA484024240ATP7Bc.*1592C>T (n.*1592C>T)
c.*2686C>T (n.*2686C>T)
c.3321C>T (p.Ser1107=)
c.3942C>T (p.Ser1314=)
c.3609C>T (p.Ser1203=)
c.3690C>T (p.Ser1230=)
n.1265C>T
c.3708C>T (p.Ser1236=)
n.4081C>T
n.808C>T
c.2877C>T (p.Ser959=)
c.2652C>T (p.Ser884=)
c.3747C>T (p.Ser1249=)
c.1720C>T
c.*1043C>T (n.*1043C>T)
n.4686C>T
n.3287C>T
c.3798C>T (p.Ser1266=)
c.3846C>T (p.Ser1282=)
c.3906C>T (p.Ser1302=)
c.3456C>T (p.Ser1152=)
c.1758C>T (p.Ser586=)
c.1575C>T (p.Ser525=)
c.3807C>T (p.Ser1269=)
c.3759C>T (p.Ser1253=)
c.3528C>T (p.Ser1176=)
c.3429C>T (p.Ser1143=)
c.2610C>T (p.Ser870=)
n.4161C>T
13g.51937355G>CCA484024241ATP7Bc.*1592C>G (n.*1592C>G)
c.*2686C>G (n.*2686C>G)
c.3321C>G (p.Ser1107=)
c.3942C>G (p.Ser1314=)
c.3609C>G (p.Ser1203=)
c.3690C>G (p.Ser1230=)
n.1265C>G
c.3708C>G (p.Ser1236=)
n.4081C>G
n.808C>G
c.2877C>G (p.Ser959=)
c.2652C>G (p.Ser884=)
c.3747C>G (p.Ser1249=)
c.1720C>G
c.*1043C>G (n.*1043C>G)
n.4686C>G
n.3287C>G
c.3798C>G (p.Ser1266=)
c.3846C>G (p.Ser1282=)
c.3906C>G (p.Ser1302=)
c.3456C>G (p.Ser1152=)
c.1758C>G (p.Ser586=)
c.1575C>G (p.Ser525=)
c.3807C>G (p.Ser1269=)
c.3759C>G (p.Ser1253=)
c.3528C>G (p.Ser1176=)
c.3429C>G (p.Ser1143=)
c.2610C>G (p.Ser870=)
n.4161C>G
13g.51937355G>TCA484024242ATP7Bc.*1592C>A (n.*1592C>A)
c.*2686C>A (n.*2686C>A)
c.3321C>A (p.Ser1107=)
c.3942C>A (p.Ser1314=)
c.3609C>A (p.Ser1203=)
c.3690C>A (p.Ser1230=)
n.1265C>A
c.3708C>A (p.Ser1236=)
n.4081C>A
n.808C>A
c.2877C>A (p.Ser959=)
c.2652C>A (p.Ser884=)
c.3747C>A (p.Ser1249=)
c.1720C>A
c.*1043C>A (n.*1043C>A)
n.4686C>A
n.3287C>A
c.3798C>A (p.Ser1266=)
c.3846C>A (p.Ser1282=)
c.3906C>A (p.Ser1302=)
c.3456C>A (p.Ser1152=)
c.1758C>A (p.Ser586=)
c.1575C>A (p.Ser525=)
c.3807C>A (p.Ser1269=)
c.3759C>A (p.Ser1253=)
c.3528C>A (p.Ser1176=)
c.3429C>A (p.Ser1143=)
c.2610C>A (p.Ser870=)
n.4161C>A
13g.51937356G>ACA388021142ATP7Bc.*1591C>T (n.*1591C>T)
c.*2685C>T (n.*2685C>T)
c.3320C>T (p.Ser1107Phe)
c.3941C>T (p.Ser1314Phe)
c.3608C>T (p.Ser1203Phe)
c.3689C>T (p.Ser1230Phe)
n.1264C>T
c.3707C>T (p.Ser1236Phe)
n.4080C>T
n.807C>T
c.2876C>T (p.Ser959Phe)
c.2651C>T (p.Ser884Phe)
c.3746C>T (p.Ser1249Phe)
c.1719C>T
c.*1042C>T (n.*1042C>T)
n.4685C>T
n.3286C>T
c.3797C>T (p.Ser1266Phe)
c.3845C>T (p.Ser1282Phe)
c.3905C>T (p.Ser1302Phe)
c.3455C>T (p.Ser1152Phe)
c.1757C>T (p.Ser586Phe)
c.1574C>T (p.Ser525Phe)
c.3806C>T (p.Ser1269Phe)
c.3758C>T (p.Ser1253Phe)
c.3527C>T (p.Ser1176Phe)
c.3428C>T (p.Ser1143Phe)
c.2609C>T (p.Ser870Phe)
n.4160C>T
dbSNP
13g.51937356G>CCA388021140ATP7Bc.*1591C>G (n.*1591C>G)
c.*2685C>G (n.*2685C>G)
c.3320C>G (p.Ser1107Cys)
c.3941C>G (p.Ser1314Cys)
c.3608C>G (p.Ser1203Cys)
c.3689C>G (p.Ser1230Cys)
n.1264C>G
c.3707C>G (p.Ser1236Cys)
n.4080C>G
n.807C>G
c.2876C>G (p.Ser959Cys)
c.2651C>G (p.Ser884Cys)
c.3746C>G (p.Ser1249Cys)
c.1719C>G
c.*1042C>G (n.*1042C>G)
n.4685C>G
n.3286C>G
c.3797C>G (p.Ser1266Cys)
c.3845C>G (p.Ser1282Cys)
c.3905C>G (p.Ser1302Cys)
c.3455C>G (p.Ser1152Cys)
c.1757C>G (p.Ser586Cys)
c.1574C>G (p.Ser525Cys)
c.3806C>G (p.Ser1269Cys)
c.3758C>G (p.Ser1253Cys)
c.3527C>G (p.Ser1176Cys)
c.3428C>G (p.Ser1143Cys)
c.2609C>G (p.Ser870Cys)
n.4160C>G
13g.51937356G=CA2091553495ATP7Bc.*1591C= (n.*1591C=)
c.*2685C= (n.*2685C=)
c.3320C= (p.Ser1107=)
c.3941C= (p.Ser1314=)
c.3608C= (p.Ser1203=)
c.3689C= (p.Ser1230=)
n.1264C=
c.3707C= (p.Ser1236=)
n.4080C=
n.807C=
c.2876C= (p.Ser959=)
c.2651C= (p.Ser884=)
c.3746C= (p.Ser1249=)
c.1719C=
c.*1042C= (n.*1042C=)
n.4685C=
n.3286C=
c.3797C= (p.Ser1266=)
c.3845C= (p.Ser1282=)
c.3905C= (p.Ser1302=)
c.3455C= (p.Ser1152=)
c.1757C= (p.Ser586=)
c.1574C= (p.Ser525=)
c.3806C= (p.Ser1269=)
c.3758C= (p.Ser1253=)
c.3527C= (p.Ser1176=)
c.3428C= (p.Ser1143=)
c.2609C= (p.Ser870=)
n.4160C=
13g.51937356G>TCA388021143ATP7Bc.*1591C>A (n.*1591C>A)
c.*2685C>A (n.*2685C>A)
c.3320C>A (p.Ser1107Tyr)
c.3941C>A (p.Ser1314Tyr)
c.3608C>A (p.Ser1203Tyr)
c.3689C>A (p.Ser1230Tyr)
n.1264C>A
c.3707C>A (p.Ser1236Tyr)
n.4080C>A
n.807C>A
c.2876C>A (p.Ser959Tyr)
c.2651C>A (p.Ser884Tyr)
c.3746C>A (p.Ser1249Tyr)
c.1719C>A
c.*1042C>A (n.*1042C>A)
n.4685C>A
n.3286C>A
c.3797C>A (p.Ser1266Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3905C>A (p.Ser1302Tyr)
c.3455C>A (p.Ser1152Tyr)
c.1757C>A (p.Ser586Tyr)
c.1574C>A (p.Ser525Tyr)
c.3806C>A (p.Ser1269Tyr)
c.3758C>A (p.Ser1253Tyr)
c.3527C>A (p.Ser1176Tyr)
c.3428C>A (p.Ser1143Tyr)
c.2609C>A (p.Ser870Tyr)
n.4160C>A
13g.51937357A>CCA388021145ATP7Bc.*1590T>G (n.*1590T>G)
c.*2684T>G (n.*2684T>G)
c.3319T>G (p.Ser1107Ala)
c.3940T>G (p.Ser1314Ala)
c.3607T>G (p.Ser1203Ala)
c.3688T>G (p.Ser1230Ala)
n.1263T>G
c.3706T>G (p.Ser1236Ala)
n.4079T>G
n.806T>G
c.2875T>G (p.Ser959Ala)
c.2650T>G (p.Ser884Ala)
c.3745T>G (p.Ser1249Ala)
c.1718T>G
c.*1041T>G (n.*1041T>G)
n.4684T>G
n.3285T>G
c.3796T>G (p.Ser1266Ala)
c.3844T>G (p.Ser1282Ala)
c.3904T>G (p.Ser1302Ala)
c.3454T>G (p.Ser1152Ala)
c.1756T>G (p.Ser586Ala)
c.1573T>G (p.Ser525Ala)
c.3805T>G (p.Ser1269Ala)
c.3757T>G (p.Ser1253Ala)
c.3526T>G (p.Ser1176Ala)
c.3427T>G (p.Ser1143Ala)
c.2608T>G (p.Ser870Ala)
n.4159T>G
13g.51937357A>GCA388021147ATP7Bc.*1590T>C (n.*1590T>C)
c.*2684T>C (n.*2684T>C)
c.3319T>C (p.Ser1107Pro)
c.3940T>C (p.Ser1314Pro)
c.3607T>C (p.Ser1203Pro)
c.3688T>C (p.Ser1230Pro)
n.1263T>C
c.3706T>C (p.Ser1236Pro)
n.4079T>C
n.806T>C
c.2875T>C (p.Ser959Pro)
c.2650T>C (p.Ser884Pro)
c.3745T>C (p.Ser1249Pro)
c.1718T>C
c.*1041T>C (n.*1041T>C)
n.4684T>C
n.3285T>C
c.3796T>C (p.Ser1266Pro)
c.3844T>C (p.Ser1282Pro)
c.3904T>C (p.Ser1302Pro)
c.3454T>C (p.Ser1152Pro)
c.1756T>C (p.Ser586Pro)
c.1573T>C (p.Ser525Pro)
c.3805T>C (p.Ser1269Pro)
c.3757T>C (p.Ser1253Pro)
c.3526T>C (p.Ser1176Pro)
c.3427T>C (p.Ser1143Pro)
c.2608T>C (p.Ser870Pro)
n.4159T>C
13g.51937357A>TCA388021149ATP7Bc.*1590T>A (n.*1590T>A)
c.*2684T>A (n.*2684T>A)
c.3319T>A (p.Ser1107Thr)
c.3940T>A (p.Ser1314Thr)
c.3607T>A (p.Ser1203Thr)
c.3688T>A (p.Ser1230Thr)
n.1263T>A
c.3706T>A (p.Ser1236Thr)
n.4079T>A
n.806T>A
c.2875T>A (p.Ser959Thr)
c.2650T>A (p.Ser884Thr)
c.3745T>A (p.Ser1249Thr)
c.1718T>A
c.*1041T>A (n.*1041T>A)
n.4684T>A
n.3285T>A
c.3796T>A (p.Ser1266Thr)
c.3844T>A (p.Ser1282Thr)
c.3904T>A (p.Ser1302Thr)
c.3454T>A (p.Ser1152Thr)
c.1756T>A (p.Ser586Thr)
c.1573T>A (p.Ser525Thr)
c.3805T>A (p.Ser1269Thr)
c.3757T>A (p.Ser1253Thr)
c.3526T>A (p.Ser1176Thr)
c.3427T>A (p.Ser1143Thr)
c.2608T>A (p.Ser870Thr)
n.4159T>A
13g.51937358A=CA2091553499ATP7Bc.*1589T= (n.*1589T=)
c.*2683T= (n.*2683T=)
c.3318T= (p.Leu1106=)
c.3939T= (p.Leu1313=)
c.3606T= (p.Leu1202=)
c.3687T= (p.Leu1229=)
n.1262T=
c.3705T= (p.Leu1235=)
n.4078T=
n.805T=
c.2874T= (p.Leu958=)
c.2649T= (p.Leu883=)
c.3744T= (p.Leu1248=)
c.1717T=
c.*1040T= (n.*1040T=)
n.4683T=
n.3284T=
c.3795T= (p.Leu1265=)
c.3843T= (p.Leu1281=)
c.3903T= (p.Leu1301=)
c.3453T= (p.Leu1151=)
c.1755T= (p.Leu585=)
c.1572T= (p.Leu524=)
c.3804T= (p.Leu1268=)
c.3756T= (p.Leu1252=)
c.3525T= (p.Leu1175=)
c.3426T= (p.Leu1142=)
c.2607T= (p.Leu869=)
n.4158T=
13g.51937358A>CCA484024243ATP7Bc.*1589T>G (n.*1589T>G)
c.*2683T>G (n.*2683T>G)
c.3318T>G (p.Leu1106=)
c.3939T>G (p.Leu1313=)
c.3606T>G (p.Leu1202=)
c.3687T>G (p.Leu1229=)
n.1262T>G
c.3705T>G (p.Leu1235=)
n.4078T>G
n.805T>G
c.2874T>G (p.Leu958=)
c.2649T>G (p.Leu883=)
c.3744T>G (p.Leu1248=)
c.1717T>G
c.*1040T>G (n.*1040T>G)
n.4683T>G
n.3284T>G
c.3795T>G (p.Leu1265=)
c.3843T>G (p.Leu1281=)
c.3903T>G (p.Leu1301=)
c.3453T>G (p.Leu1151=)
c.1755T>G (p.Leu585=)
c.1572T>G (p.Leu524=)
c.3804T>G (p.Leu1268=)
c.3756T>G (p.Leu1252=)
c.3525T>G (p.Leu1175=)
c.3426T>G (p.Leu1142=)
c.2607T>G (p.Leu869=)
n.4158T>G
gnomAD v4
13g.51937358A>GCA250073397ATP7Bc.*1589T>C (n.*1589T>C)
c.*2683T>C (n.*2683T>C)
c.3318T>C (p.Leu1106=)
c.3939T>C (p.Leu1313=)
c.3606T>C (p.Leu1202=)
c.3687T>C (p.Leu1229=)
n.1262T>C
c.3705T>C (p.Leu1235=)
n.4078T>C
n.805T>C
c.2874T>C (p.Leu958=)
c.2649T>C (p.Leu883=)
c.3744T>C (p.Leu1248=)
c.1717T>C
c.*1040T>C (n.*1040T>C)
n.4683T>C
n.3284T>C
c.3795T>C (p.Leu1265=)
c.3843T>C (p.Leu1281=)
c.3903T>C (p.Leu1301=)
c.3453T>C (p.Leu1151=)
c.1755T>C (p.Leu585=)
c.1572T>C (p.Leu524=)
c.3804T>C (p.Leu1268=)
c.3756T>C (p.Leu1252=)
c.3525T>C (p.Leu1175=)
c.3426T>C (p.Leu1142=)
c.2607T>C (p.Leu869=)
n.4158T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937358A>TCA484024244ATP7Bc.*1589T>A (n.*1589T>A)
c.*2683T>A (n.*2683T>A)
c.3318T>A (p.Leu1106=)
c.3939T>A (p.Leu1313=)
c.3606T>A (p.Leu1202=)
c.3687T>A (p.Leu1229=)
n.1262T>A
c.3705T>A (p.Leu1235=)
n.4078T>A
n.805T>A
c.2874T>A (p.Leu958=)
c.2649T>A (p.Leu883=)
c.3744T>A (p.Leu1248=)
c.1717T>A
c.*1040T>A (n.*1040T>A)
n.4683T>A
n.3284T>A
c.3795T>A (p.Leu1265=)
c.3843T>A (p.Leu1281=)
c.3903T>A (p.Leu1301=)
c.3453T>A (p.Leu1151=)
c.1755T>A (p.Leu585=)
c.1572T>A (p.Leu524=)
c.3804T>A (p.Leu1268=)
c.3756T>A (p.Leu1252=)
c.3525T>A (p.Leu1175=)
c.3426T>A (p.Leu1142=)
c.2607T>A (p.Leu869=)
n.4158T>A
13g.51937359A>CCA388021150ATP7Bc.*1588T>G (n.*1588T>G)
c.*2682T>G (n.*2682T>G)
c.3317T>G (p.Leu1106Arg)
c.3938T>G (p.Leu1313Arg)
c.3605T>G (p.Leu1202Arg)
c.3686T>G (p.Leu1229Arg)
n.1261T>G
c.3704T>G (p.Leu1235Arg)
n.4077T>G
n.804T>G
c.2873T>G (p.Leu958Arg)
c.2648T>G (p.Leu883Arg)
c.3743T>G (p.Leu1248Arg)
c.1716T>G
c.*1039T>G (n.*1039T>G)
n.4682T>G
n.3283T>G
c.3794T>G (p.Leu1265Arg)
c.3842T>G (p.Leu1281Arg)
c.3902T>G (p.Leu1301Arg)
c.3452T>G (p.Leu1151Arg)
c.1754T>G (p.Leu585Arg)
c.1571T>G (p.Leu524Arg)
c.3803T>G (p.Leu1268Arg)
c.3755T>G (p.Leu1252Arg)
c.3524T>G (p.Leu1175Arg)
c.3425T>G (p.Leu1142Arg)
c.2606T>G (p.Leu869Arg)
n.4157T>G
gnomAD v4
13g.51937359A>GCA388021152ATP7Bc.*1588T>C (n.*1588T>C)
c.*2682T>C (n.*2682T>C)
c.3317T>C (p.Leu1106Pro)
c.3938T>C (p.Leu1313Pro)
c.3605T>C (p.Leu1202Pro)
c.3686T>C (p.Leu1229Pro)
n.1261T>C
c.3704T>C (p.Leu1235Pro)
n.4077T>C
n.804T>C
c.2873T>C (p.Leu958Pro)
c.2648T>C (p.Leu883Pro)
c.3743T>C (p.Leu1248Pro)
c.1716T>C
c.*1039T>C (n.*1039T>C)
n.4682T>C
n.3283T>C
c.3794T>C (p.Leu1265Pro)
c.3842T>C (p.Leu1281Pro)
c.3902T>C (p.Leu1301Pro)
c.3452T>C (p.Leu1151Pro)
c.1754T>C (p.Leu585Pro)
c.1571T>C (p.Leu524Pro)
c.3803T>C (p.Leu1268Pro)
c.3755T>C (p.Leu1252Pro)
c.3524T>C (p.Leu1175Pro)
c.3425T>C (p.Leu1142Pro)
c.2606T>C (p.Leu869Pro)
n.4157T>C
gnomAD v4
13g.51937359A>TCA388021154ATP7Bc.*1588T>A (n.*1588T>A)
c.*2682T>A (n.*2682T>A)
c.3317T>A (p.Leu1106His)
c.3938T>A (p.Leu1313His)
c.3605T>A (p.Leu1202His)
c.3686T>A (p.Leu1229His)
n.1261T>A
c.3704T>A (p.Leu1235His)
n.4077T>A
n.804T>A
c.2873T>A (p.Leu958His)
c.2648T>A (p.Leu883His)
c.3743T>A (p.Leu1248His)
c.1716T>A
c.*1039T>A (n.*1039T>A)
n.4682T>A
n.3283T>A
c.3794T>A (p.Leu1265His)
c.3842T>A (p.Leu1281His)
c.3902T>A (p.Leu1301His)
c.3452T>A (p.Leu1151His)
c.1754T>A (p.Leu585His)
c.1571T>A (p.Leu524His)
c.3803T>A (p.Leu1268His)
c.3755T>A (p.Leu1252His)
c.3524T>A (p.Leu1175His)
c.3425T>A (p.Leu1142His)
c.2606T>A (p.Leu869His)
n.4157T>A
13g.51937360G>ACA388021156ATP7Bc.*1587C>T (n.*1587C>T)
c.*2681C>T (n.*2681C>T)
c.3316C>T (p.Leu1106Phe)
c.3937C>T (p.Leu1313Phe)
c.3604C>T (p.Leu1202Phe)
c.3685C>T (p.Leu1229Phe)
n.1260C>T
c.3703C>T (p.Leu1235Phe)
n.4076C>T
n.803C>T
c.2872C>T (p.Leu958Phe)
c.2647C>T (p.Leu883Phe)
c.3742C>T (p.Leu1248Phe)
c.1715C>T
c.*1038C>T (n.*1038C>T)
n.4681C>T
n.3282C>T
c.3793C>T (p.Leu1265Phe)
c.3841C>T (p.Leu1281Phe)
c.3901C>T (p.Leu1301Phe)
c.3451C>T (p.Leu1151Phe)
c.1753C>T (p.Leu585Phe)
c.1570C>T (p.Leu524Phe)
c.3802C>T (p.Leu1268Phe)
c.3754C>T (p.Leu1252Phe)
c.3523C>T (p.Leu1175Phe)
c.3424C>T (p.Leu1142Phe)
c.2605C>T (p.Leu869Phe)
n.4156C>T
13g.51937360G>CCA388021157ATP7Bc.*1587C>G (n.*1587C>G)
c.*2681C>G (n.*2681C>G)
c.3316C>G (p.Leu1106Val)
c.3937C>G (p.Leu1313Val)
c.3604C>G (p.Leu1202Val)
c.3685C>G (p.Leu1229Val)
n.1260C>G
c.3703C>G (p.Leu1235Val)
n.4076C>G
n.803C>G
c.2872C>G (p.Leu958Val)
c.2647C>G (p.Leu883Val)
c.3742C>G (p.Leu1248Val)
c.1715C>G
c.*1038C>G (n.*1038C>G)
n.4681C>G
n.3282C>G
c.3793C>G (p.Leu1265Val)
c.3841C>G (p.Leu1281Val)
c.3901C>G (p.Leu1301Val)
c.3451C>G (p.Leu1151Val)
c.1753C>G (p.Leu585Val)
c.1570C>G (p.Leu524Val)
c.3802C>G (p.Leu1268Val)
c.3754C>G (p.Leu1252Val)
c.3523C>G (p.Leu1175Val)
c.3424C>G (p.Leu1142Val)
c.2605C>G (p.Leu869Val)
n.4156C>G
13g.51937360G>TCA388021158ATP7Bc.*1587C>A (n.*1587C>A)
c.*2681C>A (n.*2681C>A)
c.3316C>A (p.Leu1106Ile)
c.3937C>A (p.Leu1313Ile)
c.3604C>A (p.Leu1202Ile)
c.3685C>A (p.Leu1229Ile)
n.1260C>A
c.3703C>A (p.Leu1235Ile)
n.4076C>A
n.803C>A
c.2872C>A (p.Leu958Ile)
c.2647C>A (p.Leu883Ile)
c.3742C>A (p.Leu1248Ile)
c.1715C>A
c.*1038C>A (n.*1038C>A)
n.4681C>A
n.3282C>A
c.3793C>A (p.Leu1265Ile)
c.3841C>A (p.Leu1281Ile)
c.3901C>A (p.Leu1301Ile)
c.3451C>A (p.Leu1151Ile)
c.1753C>A (p.Leu585Ile)
c.1570C>A (p.Leu524Ile)
c.3802C>A (p.Leu1268Ile)
c.3754C>A (p.Leu1252Ile)
c.3523C>A (p.Leu1175Ile)
c.3424C>A (p.Leu1142Ile)
c.2605C>A (p.Leu869Ile)
n.4156C>A
13g.51937361G>ACA484024245ATP7Bc.*1586C>T (n.*1586C>T)
c.*2680C>T (n.*2680C>T)
c.3315C>T (p.His1105=)
c.3936C>T (p.His1312=)
c.3603C>T (p.His1201=)
c.3684C>T (p.His1228=)
n.1259C>T
c.3702C>T (p.His1234=)
n.4075C>T
n.802C>T
c.2871C>T (p.His957=)
c.2646C>T (p.His882=)
c.3741C>T (p.His1247=)
c.1714C>T
c.*1037C>T (n.*1037C>T)
n.4680C>T
n.3281C>T
c.3792C>T (p.His1264=)
c.3840C>T (p.His1280=)
c.3900C>T (p.His1300=)
c.3450C>T (p.His1150=)
c.1752C>T (p.His584=)
c.1569C>T (p.His523=)
c.3801C>T (p.His1267=)
c.3753C>T (p.His1251=)
c.3522C>T (p.His1174=)
c.3423C>T (p.His1141=)
c.2604C>T (p.His868=)
n.4155C>T
ClinVar dbSNP gnomAD v4
13g.51937361G>CCA388021160ATP7Bc.*1586C>G (n.*1586C>G)
c.*2680C>G (n.*2680C>G)
c.3315C>G (p.His1105Gln)
c.3936C>G (p.His1312Gln)
c.3603C>G (p.His1201Gln)
c.3684C>G (p.His1228Gln)
n.1259C>G
c.3702C>G (p.His1234Gln)
n.4075C>G
n.802C>G
c.2871C>G (p.His957Gln)
c.2646C>G (p.His882Gln)
c.3741C>G (p.His1247Gln)
c.1714C>G
c.*1037C>G (n.*1037C>G)
n.4680C>G
n.3281C>G
c.3792C>G (p.His1264Gln)
c.3840C>G (p.His1280Gln)
c.3900C>G (p.His1300Gln)
c.3450C>G (p.His1150Gln)
c.1752C>G (p.His584Gln)
c.1569C>G (p.His523Gln)
c.3801C>G (p.His1267Gln)
c.3753C>G (p.His1251Gln)
c.3522C>G (p.His1174Gln)
c.3423C>G (p.His1141Gln)
c.2604C>G (p.His868Gln)
n.4155C>G
gnomAD v4
13g.51937361G=CA2091553504ATP7Bc.*1586C= (n.*1586C=)
c.*2680C= (n.*2680C=)
c.3315C= (p.His1105=)
c.3936C= (p.His1312=)
c.3603C= (p.His1201=)
c.3684C= (p.His1228=)
n.1259C=
c.3702C= (p.His1234=)
n.4075C=
n.802C=
c.2871C= (p.His957=)
c.2646C= (p.His882=)
c.3741C= (p.His1247=)
c.1714C=
c.*1037C= (n.*1037C=)
n.4680C=
n.3281C=
c.3792C= (p.His1264=)
c.3840C= (p.His1280=)
c.3900C= (p.His1300=)
c.3450C= (p.His1150=)
c.1752C= (p.His584=)
c.1569C= (p.His523=)
c.3801C= (p.His1267=)
c.3753C= (p.His1251=)
c.3522C= (p.His1174=)
c.3423C= (p.His1141=)
c.2604C= (p.His868=)
n.4155C=
13g.51937361G>TCA388021161ATP7Bc.*1586C>A (n.*1586C>A)
c.*2680C>A (n.*2680C>A)
c.3315C>A (p.His1105Gln)
c.3936C>A (p.His1312Gln)
c.3603C>A (p.His1201Gln)
c.3684C>A (p.His1228Gln)
n.1259C>A
c.3702C>A (p.His1234Gln)
n.4075C>A
n.802C>A
c.2871C>A (p.His957Gln)
c.2646C>A (p.His882Gln)
c.3741C>A (p.His1247Gln)
c.1714C>A
c.*1037C>A (n.*1037C>A)
n.4680C>A
n.3281C>A
c.3792C>A (p.His1264Gln)
c.3840C>A (p.His1280Gln)
c.3900C>A (p.His1300Gln)
c.3450C>A (p.His1150Gln)
c.1752C>A (p.His584Gln)
c.1569C>A (p.His523Gln)
c.3801C>A (p.His1267Gln)
c.3753C>A (p.His1251Gln)
c.3522C>A (p.His1174Gln)
c.3423C>A (p.His1141Gln)
c.2604C>A (p.His868Gln)
n.4155C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937362_51937363delCA2580087700ATP7Bc.*1585_*1586del (n.*1585_*1586del)
c.*2679_*2680del (n.*2679_*2680del)
c.3314_3315del (p.His1105ProfsTer20)
c.3935_3936del (p.His1312ProfsTer20)
c.3602_3603del (p.His1201ProfsTer20)
c.3683_3684del (p.His1228ProfsTer20)
n.1258_1259del
c.3701_3702del (p.His1234ProfsTer20)
n.4074_4075del
n.801_802del
c.2870_2871del (p.His957ProfsTer20)
c.2645_2646del (p.His882ProfsTer20)
c.3740_3741del (p.His1247ProfsTer20)
c.1713_1714del
c.*1036_*1037del (n.*1036_*1037del)
n.4679_4680del
n.3280_3281del
c.3791_3792del (p.His1264ProfsTer20)
c.3839_3840del (p.His1280ProfsTer20)
c.3899_3900del (p.His1300ProfsTer20)
c.3449_3450del (p.His1150ProfsTer20)
c.1751_1752del (p.His584ProfsTer20)
c.1568_1569del (p.His523ProfsTer20)
c.3800_3801del (p.His1267ProfsTer20)
c.3752_3753del (p.His1251ProfsTer20)
c.3521_3522del (p.His1174ProfsTer20)
c.3422_3423del (p.His1141ProfsTer20)
c.2603_2604del (p.His868ProfsTer20)
n.4154_4155del
ClinVar
13g.51937362T>ACA388021167ATP7Bc.*1585A>T (n.*1585A>T)
c.*2679A>T (n.*2679A>T)
c.3314A>T (p.His1105Leu)
c.3935A>T (p.His1312Leu)
c.3602A>T (p.His1201Leu)
c.3683A>T (p.His1228Leu)
n.1258A>T
c.3701A>T (p.His1234Leu)
n.4074A>T
n.801A>T
c.2870A>T (p.His957Leu)
c.2645A>T (p.His882Leu)
c.3740A>T (p.His1247Leu)
c.1713A>T
c.*1036A>T (n.*1036A>T)
n.4679A>T
n.3280A>T
c.3791A>T (p.His1264Leu)
c.3839A>T (p.His1280Leu)
c.3899A>T (p.His1300Leu)
c.3449A>T (p.His1150Leu)
c.1751A>T (p.His584Leu)
c.1568A>T (p.His523Leu)
c.3800A>T (p.His1267Leu)
c.3752A>T (p.His1251Leu)
c.3521A>T (p.His1174Leu)
c.3422A>T (p.His1141Leu)
c.2603A>T (p.His868Leu)
n.4154A>T
13g.51937362T>CCA388021165ATP7Bc.*1585A>G (n.*1585A>G)
c.*2679A>G (n.*2679A>G)
c.3314A>G (p.His1105Arg)
c.3935A>G (p.His1312Arg)
c.3602A>G (p.His1201Arg)
c.3683A>G (p.His1228Arg)
n.1258A>G
c.3701A>G (p.His1234Arg)
n.4074A>G
n.801A>G
c.2870A>G (p.His957Arg)
c.2645A>G (p.His882Arg)
c.3740A>G (p.His1247Arg)
c.1713A>G
c.*1036A>G (n.*1036A>G)
n.4679A>G
n.3280A>G
c.3791A>G (p.His1264Arg)
c.3839A>G (p.His1280Arg)
c.3899A>G (p.His1300Arg)
c.3449A>G (p.His1150Arg)
c.1751A>G (p.His584Arg)
c.1568A>G (p.His523Arg)
c.3800A>G (p.His1267Arg)
c.3752A>G (p.His1251Arg)
c.3521A>G (p.His1174Arg)
c.3422A>G (p.His1141Arg)
c.2603A>G (p.His868Arg)
n.4154A>G
13g.51937362T>GCA388021163ATP7Bc.*1585A>C (n.*1585A>C)
c.*2679A>C (n.*2679A>C)
c.3314A>C (p.His1105Pro)
c.3935A>C (p.His1312Pro)
c.3602A>C (p.His1201Pro)
c.3683A>C (p.His1228Pro)
n.1258A>C
c.3701A>C (p.His1234Pro)
n.4074A>C
n.801A>C
c.2870A>C (p.His957Pro)
c.2645A>C (p.His882Pro)
c.3740A>C (p.His1247Pro)
c.1713A>C
c.*1036A>C (n.*1036A>C)
n.4679A>C
n.3280A>C
c.3791A>C (p.His1264Pro)
c.3839A>C (p.His1280Pro)
c.3899A>C (p.His1300Pro)
c.3449A>C (p.His1150Pro)
c.1751A>C (p.His584Pro)
c.1568A>C (p.His523Pro)
c.3800A>C (p.His1267Pro)
c.3752A>C (p.His1251Pro)
c.3521A>C (p.His1174Pro)
c.3422A>C (p.His1141Pro)
c.2603A>C (p.His868Pro)
n.4154A>C
13g.51937363G>ACA388021168ATP7Bc.*1584C>T (n.*1584C>T)
c.*2678C>T (n.*2678C>T)
c.3313C>T (p.His1105Tyr)
c.3934C>T (p.His1312Tyr)
c.3601C>T (p.His1201Tyr)
c.3682C>T (p.His1228Tyr)
n.1257C>T
c.3700C>T (p.His1234Tyr)
n.4073C>T
n.800C>T
c.2869C>T (p.His957Tyr)
c.2644C>T (p.His882Tyr)
c.3739C>T (p.His1247Tyr)
c.1712C>T
c.*1035C>T (n.*1035C>T)
n.4678C>T
n.3279C>T
c.3790C>T (p.His1264Tyr)
c.3838C>T (p.His1280Tyr)
c.3898C>T (p.His1300Tyr)
c.3448C>T (p.His1150Tyr)
c.1750C>T (p.His584Tyr)
c.1567C>T (p.His523Tyr)
c.3799C>T (p.His1267Tyr)
c.3751C>T (p.His1251Tyr)
c.3520C>T (p.His1174Tyr)
c.3421C>T (p.His1141Tyr)
c.2602C>T (p.His868Tyr)
n.4153C>T
13g.51937363G>CCA388021170ATP7Bc.*1584C>G (n.*1584C>G)
c.*2678C>G (n.*2678C>G)
c.3313C>G (p.His1105Asp)
c.3934C>G (p.His1312Asp)
c.3601C>G (p.His1201Asp)
c.3682C>G (p.His1228Asp)
n.1257C>G
c.3700C>G (p.His1234Asp)
n.4073C>G
n.800C>G
c.2869C>G (p.His957Asp)
c.2644C>G (p.His882Asp)
c.3739C>G (p.His1247Asp)
c.1712C>G
c.*1035C>G (n.*1035C>G)
n.4678C>G
n.3279C>G
c.3790C>G (p.His1264Asp)
c.3838C>G (p.His1280Asp)
c.3898C>G (p.His1300Asp)
c.3448C>G (p.His1150Asp)
c.1750C>G (p.His584Asp)
c.1567C>G (p.His523Asp)
c.3799C>G (p.His1267Asp)
c.3751C>G (p.His1251Asp)
c.3520C>G (p.His1174Asp)
c.3421C>G (p.His1141Asp)
c.2602C>G (p.His868Asp)
n.4153C>G
13g.51937363G>TCA388021171ATP7Bc.*1584C>A (n.*1584C>A)
c.*2678C>A (n.*2678C>A)
c.3313C>A (p.His1105Asn)
c.3934C>A (p.His1312Asn)
c.3601C>A (p.His1201Asn)
c.3682C>A (p.His1228Asn)
n.1257C>A
c.3700C>A (p.His1234Asn)
n.4073C>A
n.800C>A
c.2869C>A (p.His957Asn)
c.2644C>A (p.His882Asn)
c.3739C>A (p.His1247Asn)
c.1712C>A
c.*1035C>A (n.*1035C>A)
n.4678C>A
n.3279C>A
c.3790C>A (p.His1264Asn)
c.3838C>A (p.His1280Asn)
c.3898C>A (p.His1300Asn)
c.3448C>A (p.His1150Asn)
c.1750C>A (p.His584Asn)
c.1567C>A (p.His523Asn)
c.3799C>A (p.His1267Asn)
c.3751C>A (p.His1251Asn)
c.3520C>A (p.His1174Asn)
c.3421C>A (p.His1141Asn)
c.2602C>A (p.His868Asn)
n.4153C>A
gnomAD v4
13g.51937364A>CCA388021172ATP7Bc.*1583T>G (n.*1583T>G)
c.*2677T>G (n.*2677T>G)
c.3312T>G (p.Ile1104Met)
c.3933T>G (p.Ile1311Met)
c.3600T>G (p.Ile1200Met)
c.3681T>G (p.Ile1227Met)
n.1256T>G
c.3699T>G (p.Ile1233Met)
n.4072T>G
n.799T>G
c.2868T>G (p.Ile956Met)
c.2643T>G (p.Ile881Met)
c.3738T>G (p.Ile1246Met)
c.1711T>G
c.*1034T>G (n.*1034T>G)
n.4677T>G
n.3278T>G
c.3789T>G (p.Ile1263Met)
c.3837T>G (p.Ile1279Met)
c.3897T>G (p.Ile1299Met)
c.3447T>G (p.Ile1149Met)
c.1749T>G (p.Ile583Met)
c.1566T>G (p.Ile522Met)
c.3798T>G (p.Ile1266Met)
c.3750T>G (p.Ile1250Met)
c.3519T>G (p.Ile1173Met)
c.3420T>G (p.Ile1140Met)
c.2601T>G (p.Ile867Met)
n.4152T>G
13g.51937364A>GCA484024246ATP7Bc.*1583T>C (n.*1583T>C)
c.*2677T>C (n.*2677T>C)
c.3312T>C (p.Ile1104=)
c.3933T>C (p.Ile1311=)
c.3600T>C (p.Ile1200=)
c.3681T>C (p.Ile1227=)
n.1256T>C
c.3699T>C (p.Ile1233=)
n.4072T>C
n.799T>C
c.2868T>C (p.Ile956=)
c.2643T>C (p.Ile881=)
c.3738T>C (p.Ile1246=)
c.1711T>C
c.*1034T>C (n.*1034T>C)
n.4677T>C
n.3278T>C
c.3789T>C (p.Ile1263=)
c.3837T>C (p.Ile1279=)
c.3897T>C (p.Ile1299=)
c.3447T>C (p.Ile1149=)
c.1749T>C (p.Ile583=)
c.1566T>C (p.Ile522=)
c.3798T>C (p.Ile1266=)
c.3750T>C (p.Ile1250=)
c.3519T>C (p.Ile1173=)
c.3420T>C (p.Ile1140=)
c.2601T>C (p.Ile867=)
n.4152T>C
gnomAD v4
13g.51937364A>TCA484024247ATP7Bc.*1583T>A (n.*1583T>A)
c.*2677T>A (n.*2677T>A)
c.3312T>A (p.Ile1104=)
c.3933T>A (p.Ile1311=)
c.3600T>A (p.Ile1200=)
c.3681T>A (p.Ile1227=)
n.1256T>A
c.3699T>A (p.Ile1233=)
n.4072T>A
n.799T>A
c.2868T>A (p.Ile956=)
c.2643T>A (p.Ile881=)
c.3738T>A (p.Ile1246=)
c.1711T>A
c.*1034T>A (n.*1034T>A)
n.4677T>A
n.3278T>A
c.3789T>A (p.Ile1263=)
c.3837T>A (p.Ile1279=)
c.3897T>A (p.Ile1299=)
c.3447T>A (p.Ile1149=)
c.1749T>A (p.Ile583=)
c.1566T>A (p.Ile522=)
c.3798T>A (p.Ile1266=)
c.3750T>A (p.Ile1250=)
c.3519T>A (p.Ile1173=)
c.3420T>A (p.Ile1140=)
c.2601T>A (p.Ile867=)
n.4152T>A
13g.51937365A>CCA388021174ATP7Bc.*1582T>G (n.*1582T>G)
c.*2676T>G (n.*2676T>G)
c.3311T>G (p.Ile1104Ser)
c.3932T>G (p.Ile1311Ser)
c.3599T>G (p.Ile1200Ser)
c.3680T>G (p.Ile1227Ser)
n.1255T>G
c.3698T>G (p.Ile1233Ser)
n.4071T>G
n.798T>G
c.2867T>G (p.Ile956Ser)
c.2642T>G (p.Ile881Ser)
c.3737T>G (p.Ile1246Ser)
c.1710T>G
c.*1033T>G (n.*1033T>G)
n.4676T>G
n.3277T>G
c.3788T>G (p.Ile1263Ser)
c.3836T>G (p.Ile1279Ser)
c.3896T>G (p.Ile1299Ser)
c.3446T>G (p.Ile1149Ser)
c.1748T>G (p.Ile583Ser)
c.1565T>G (p.Ile522Ser)
c.3797T>G (p.Ile1266Ser)
c.3749T>G (p.Ile1250Ser)
c.3518T>G (p.Ile1173Ser)
c.3419T>G (p.Ile1140Ser)
c.2600T>G (p.Ile867Ser)
n.4151T>G
ClinVar dbSNP
13g.51937365A>GCA388021175ATP7Bc.*1582T>C (n.*1582T>C)
c.*2676T>C (n.*2676T>C)
c.3311T>C (p.Ile1104Thr)
c.3932T>C (p.Ile1311Thr)
c.3599T>C (p.Ile1200Thr)
c.3680T>C (p.Ile1227Thr)
n.1255T>C
c.3698T>C (p.Ile1233Thr)
n.4071T>C
n.798T>C
c.2867T>C (p.Ile956Thr)
c.2642T>C (p.Ile881Thr)
c.3737T>C (p.Ile1246Thr)
c.1710T>C
c.*1033T>C (n.*1033T>C)
n.4676T>C
n.3277T>C
c.3788T>C (p.Ile1263Thr)
c.3836T>C (p.Ile1279Thr)
c.3896T>C (p.Ile1299Thr)
c.3446T>C (p.Ile1149Thr)
c.1748T>C (p.Ile583Thr)
c.1565T>C (p.Ile522Thr)
c.3797T>C (p.Ile1266Thr)
c.3749T>C (p.Ile1250Thr)
c.3518T>C (p.Ile1173Thr)
c.3419T>C (p.Ile1140Thr)
c.2600T>C (p.Ile867Thr)
n.4151T>C
13g.51937365A>TCA388021176ATP7Bc.*1582T>A (n.*1582T>A)
c.*2676T>A (n.*2676T>A)
c.3311T>A (p.Ile1104Asn)
c.3932T>A (p.Ile1311Asn)
c.3599T>A (p.Ile1200Asn)
c.3680T>A (p.Ile1227Asn)
n.1255T>A
c.3698T>A (p.Ile1233Asn)
n.4071T>A
n.798T>A
c.2867T>A (p.Ile956Asn)
c.2642T>A (p.Ile881Asn)
c.3737T>A (p.Ile1246Asn)
c.1710T>A
c.*1033T>A (n.*1033T>A)
n.4676T>A
n.3277T>A
c.3788T>A (p.Ile1263Asn)
c.3836T>A (p.Ile1279Asn)
c.3896T>A (p.Ile1299Asn)
c.3446T>A (p.Ile1149Asn)
c.1748T>A (p.Ile583Asn)
c.1565T>A (p.Ile522Asn)
c.3797T>A (p.Ile1266Asn)
c.3749T>A (p.Ile1250Asn)
c.3518T>A (p.Ile1173Asn)
c.3419T>A (p.Ile1140Asn)
c.2600T>A (p.Ile867Asn)
n.4151T>A
13g.51937366T>ACA388021178ATP7Bc.*1581A>T (n.*1581A>T)
c.*2675A>T (n.*2675A>T)
c.3310A>T (p.Ile1104Phe)
c.3931A>T (p.Ile1311Phe)
c.3598A>T (p.Ile1200Phe)
c.3679A>T (p.Ile1227Phe)
n.1254A>T
c.3697A>T (p.Ile1233Phe)
n.4070A>T
n.797A>T
c.2866A>T (p.Ile956Phe)
c.2641A>T (p.Ile881Phe)
c.3736A>T (p.Ile1246Phe)
c.1709A>T
c.*1032A>T (n.*1032A>T)
n.4675A>T
n.3276A>T
c.3787A>T (p.Ile1263Phe)
c.3835A>T (p.Ile1279Phe)
c.3895A>T (p.Ile1299Phe)
c.3445A>T (p.Ile1149Phe)
c.1747A>T (p.Ile583Phe)
c.1564A>T (p.Ile522Phe)
c.3796A>T (p.Ile1266Phe)
c.3748A>T (p.Ile1250Phe)
c.3517A>T (p.Ile1173Phe)
c.3418A>T (p.Ile1140Phe)
c.2599A>T (p.Ile867Phe)
n.4150A>T
13g.51937366T>CCA388021179ATP7Bc.*1581A>G (n.*1581A>G)
c.*2675A>G (n.*2675A>G)
c.3310A>G (p.Ile1104Val)
c.3931A>G (p.Ile1311Val)
c.3598A>G (p.Ile1200Val)
c.3679A>G (p.Ile1227Val)
n.1254A>G
c.3697A>G (p.Ile1233Val)
n.4070A>G
n.797A>G
c.2866A>G (p.Ile956Val)
c.2641A>G (p.Ile881Val)
c.3736A>G (p.Ile1246Val)
c.1709A>G
c.*1032A>G (n.*1032A>G)
n.4675A>G
n.3276A>G
c.3787A>G (p.Ile1263Val)
c.3835A>G (p.Ile1279Val)
c.3895A>G (p.Ile1299Val)
c.3445A>G (p.Ile1149Val)
c.1747A>G (p.Ile583Val)
c.1564A>G (p.Ile522Val)
c.3796A>G (p.Ile1266Val)
c.3748A>G (p.Ile1250Val)
c.3517A>G (p.Ile1173Val)
c.3418A>G (p.Ile1140Val)
c.2599A>G (p.Ile867Val)
n.4150A>G
13g.51937366T>GCA388021181ATP7Bc.*1581A>C (n.*1581A>C)
c.*2675A>C (n.*2675A>C)
c.3310A>C (p.Ile1104Leu)
c.3931A>C (p.Ile1311Leu)
c.3598A>C (p.Ile1200Leu)
c.3679A>C (p.Ile1227Leu)
n.1254A>C
c.3697A>C (p.Ile1233Leu)
n.4070A>C
n.797A>C
c.2866A>C (p.Ile956Leu)
c.2641A>C (p.Ile881Leu)
c.3736A>C (p.Ile1246Leu)
c.1709A>C
c.*1032A>C (n.*1032A>C)
n.4675A>C
n.3276A>C
c.3787A>C (p.Ile1263Leu)
c.3835A>C (p.Ile1279Leu)
c.3895A>C (p.Ile1299Leu)
c.3445A>C (p.Ile1149Leu)
c.1747A>C (p.Ile583Leu)
c.1564A>C (p.Ile522Leu)
c.3796A>C (p.Ile1266Leu)
c.3748A>C (p.Ile1250Leu)
c.3517A>C (p.Ile1173Leu)
c.3418A>C (p.Ile1140Leu)
c.2599A>C (p.Ile867Leu)
n.4150A>C
13g.51937366_51937369delCA2623119089ATP7Bc.*1578_*1581del (n.*1578_*1581del)
c.*2672_*2675del (n.*2672_*2675del)
c.3307_3310del (p.Ser1103PhefsTer19)
c.3928_3931del (p.Ser1310PhefsTer19)
c.3595_3598del (p.Ser1199PhefsTer19)
c.3676_3679del (p.Ser1226PhefsTer19)
n.1251_1254del
c.3694_3697del (p.Ser1232PhefsTer19)
n.4067_4070del
n.794_797del
c.2863_2866del (p.Ser955PhefsTer19)
c.2638_2641del (p.Ser880PhefsTer19)
c.3733_3736del (p.Ser1245PhefsTer19)
c.1706_1709del
c.*1029_*1032del (n.*1029_*1032del)
n.4672_4675del
n.3273_3276del
c.3784_3787del (p.Ser1262PhefsTer19)
c.3832_3835del (p.Ser1278PhefsTer19)
c.3892_3895del (p.Ser1298PhefsTer19)
c.3442_3445del (p.Ser1148PhefsTer19)
c.1744_1747del (p.Ser582PhefsTer19)
c.1561_1564del (p.Ser521PhefsTer19)
c.3793_3796del (p.Ser1265PhefsTer19)
c.3745_3748del (p.Ser1249PhefsTer19)
c.3514_3517del (p.Ser1172PhefsTer19)
c.3415_3418del (p.Ser1139PhefsTer19)
c.2596_2599del (p.Ser866PhefsTer19)
n.4147_4150del
gnomAD v4
13g.51937367G>ACA484024248ATP7Bc.*1580C>T (n.*1580C>T)
c.*2674C>T (n.*2674C>T)
c.3309C>T (p.Ser1103=)
c.3930C>T (p.Ser1310=)
c.3597C>T (p.Ser1199=)
c.3678C>T (p.Ser1226=)
n.1253C>T
c.3696C>T (p.Ser1232=)
n.4069C>T
n.796C>T
c.2865C>T (p.Ser955=)
c.2640C>T (p.Ser880=)
c.3735C>T (p.Ser1245=)
c.1708C>T
c.*1031C>T (n.*1031C>T)
n.4674C>T
n.3275C>T
c.3786C>T (p.Ser1262=)
c.3834C>T (p.Ser1278=)
c.3894C>T (p.Ser1298=)
c.3444C>T (p.Ser1148=)
c.1746C>T (p.Ser582=)
c.1563C>T (p.Ser521=)
c.3795C>T (p.Ser1265=)
c.3747C>T (p.Ser1249=)
c.3516C>T (p.Ser1172=)
c.3417C>T (p.Ser1139=)
c.2598C>T (p.Ser866=)
n.4149C>T
13g.51937367G>CCA6988532ATP7Bc.*1580C>G (n.*1580C>G)
c.*2674C>G (n.*2674C>G)
c.3309C>G (p.Ser1103Arg)
c.3930C>G (p.Ser1310Arg)
c.3597C>G (p.Ser1199Arg)
c.3678C>G (p.Ser1226Arg)
n.1253C>G
c.3696C>G (p.Ser1232Arg)
n.4069C>G
n.796C>G
c.2865C>G (p.Ser955Arg)
c.2640C>G (p.Ser880Arg)
c.3735C>G (p.Ser1245Arg)
c.1708C>G
c.*1031C>G (n.*1031C>G)
n.4674C>G
n.3275C>G
c.3786C>G (p.Ser1262Arg)
c.3834C>G (p.Ser1278Arg)
c.3894C>G (p.Ser1298Arg)
c.3444C>G (p.Ser1148Arg)
c.1746C>G (p.Ser582Arg)
c.1563C>G (p.Ser521Arg)
c.3795C>G (p.Ser1265Arg)
c.3747C>G (p.Ser1249Arg)
c.3516C>G (p.Ser1172Arg)
c.3417C>G (p.Ser1139Arg)
c.2598C>G (p.Ser866Arg)
n.4149C>G
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched