Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51941079_51941081delinsACCCA2091559265ATP7Bc.*1206_*1206+2delinsGGT
c.*2300_*2300+2delinsGGT
c.2935_2935+2delinsGGT
c.3556_3556+2delinsGGT
c.3223_3223+2delinsGGT
c.3304_3304+2delinsGGT
c.3322_3322+2delinsGGT
n.3695_3695+2delinsGGT
n.3919_3921delinsGGT
c.2491_2491+2delinsGGT
c.2266_2266+2delinsGGT
c.3361_3361+2delinsGGT
c.1334_1334+2delinsGGT
c.*657_*657+2delinsGGT
n.4300_4300+2delinsGGT
n.2901_2901+2delinsGGT
c.3412_3412+2delinsGGT
c.3460_3460+2delinsGGT
c.3520_3520+2delinsGGT
c.3070_3070+2delinsGGT
c.1372_1372+2delinsGGT
c.1189_1189+2delinsGGT
c.3421_3421+2delinsGGT
c.3373_3373+2delinsGGT
c.3142_3142+2delinsGGT
c.3043_3043+2delinsGGT
c.2224_2224+2delinsGGT
n.3775_3775+2delinsGGT
13g.51941080_51941081delCA6988663ATP7Bc.*1206_*1206+1del
c.*2300_*2300+1del
c.2935_2935+1del
c.3556_3556+1del
c.3223_3223+1del
c.3304_3304+1del
c.3322_3322+1del
n.3695_3695+1del
n.3919_3920del
c.2491_2491+1del
c.2266_2266+1del
c.3361_3361+1del
c.1334_1334+1del
c.*657_*657+1del
n.4300_4300+1del
n.2901_2901+1del
c.3412_3412+1del
c.3460_3460+1del
c.3520_3520+1del
c.3070_3070+1del
c.1372_1372+1del
c.1189_1189+1del
c.3421_3421+1del
c.3373_3373+1del
c.3142_3142+1del
c.3043_3043+1del
c.2224_2224+1del
n.3775_3775+1del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941081C>ACA388025849ATP7Bc.*1206G>T (n.*1206G>T)
c.*2300G>T (n.*2300G>T)
c.2935G>T (p.Gly979Cys)
c.3556G>T (p.Gly1186Cys)
c.3223G>T (p.Gly1075Cys)
c.3304G>T (p.Gly1102Cys)
c.3322G>T (p.Gly1108Cys)
n.3695G>T
n.3919G>T
c.2491G>T (p.Gly831Cys)
c.2266G>T (p.Gly756Cys)
c.3361G>T (p.Gly1121Cys)
c.1334G>T
c.*657G>T (n.*657G>T)
n.4300G>T
n.2901G>T
c.3412G>T (p.Gly1138Cys)
c.3460G>T (p.Gly1154Cys)
c.3520G>T (p.Gly1174Cys)
c.3070G>T (p.Gly1024Cys)
c.1372G>T (p.Gly458Cys)
c.1189G>T (p.Gly397Cys)
c.3421G>T (p.Gly1141Cys)
c.3373G>T (p.Gly1125Cys)
c.3142G>T (p.Gly1048Cys)
c.3043G>T (p.Gly1015Cys)
c.2224G>T (p.Gly742Cys)
n.3775G>T
 gnomAD v4
13g.51941081C=CA2091559283ATP7Bc.*1206G= (n.*1206G=)
c.*2300G= (n.*2300G=)
c.2935G= (p.Gly979=)
c.3556G= (p.Gly1186=)
c.3223G= (p.Gly1075=)
c.3304G= (p.Gly1102=)
c.3322G= (p.Gly1108=)
n.3695G=
n.3919G=
c.2491G= (p.Gly831=)
c.2266G= (p.Gly756=)
c.3361G= (p.Gly1121=)
c.1334G=
c.*657G= (n.*657G=)
n.4300G=
n.2901G=
c.3412G= (p.Gly1138=)
c.3460G= (p.Gly1154=)
c.3520G= (p.Gly1174=)
c.3070G= (p.Gly1024=)
c.1372G= (p.Gly458=)
c.1189G= (p.Gly397=)
c.3421G= (p.Gly1141=)
c.3373G= (p.Gly1125=)
c.3142G= (p.Gly1048=)
c.3043G= (p.Gly1015=)
c.2224G= (p.Gly742=)
n.3775G=
13g.51941081C>GCA388025845ATP7Bc.*1206G>C (n.*1206G>C)
c.*2300G>C (n.*2300G>C)
c.2935G>C (p.Gly979Arg)
c.3556G>C (p.Gly1186Arg)
c.3223G>C (p.Gly1075Arg)
c.3304G>C (p.Gly1102Arg)
c.3322G>C (p.Gly1108Arg)
n.3695G>C
n.3919G>C
c.2491G>C (p.Gly831Arg)
c.2266G>C (p.Gly756Arg)
c.3361G>C (p.Gly1121Arg)
c.1334G>C
c.*657G>C (n.*657G>C)
n.4300G>C
n.2901G>C
c.3412G>C (p.Gly1138Arg)
c.3460G>C (p.Gly1154Arg)
c.3520G>C (p.Gly1174Arg)
c.3070G>C (p.Gly1024Arg)
c.1372G>C (p.Gly458Arg)
c.1189G>C (p.Gly397Arg)
c.3421G>C (p.Gly1141Arg)
c.3373G>C (p.Gly1125Arg)
c.3142G>C (p.Gly1048Arg)
c.3043G>C (p.Gly1015Arg)
c.2224G>C (p.Gly742Arg)
n.3775G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941081C>TCA274098ATP7Bc.*1206G>A (n.*1206G>A)
c.*2300G>A (n.*2300G>A)
c.2935G>A (p.Gly979Ser)
c.3556G>A (p.Gly1186Ser)
c.3223G>A (p.Gly1075Ser)
c.3304G>A (p.Gly1102Ser)
c.3322G>A (p.Gly1108Ser)
n.3695G>A
n.3919G>A
c.2491G>A (p.Gly831Ser)
c.2266G>A (p.Gly756Ser)
c.3361G>A (p.Gly1121Ser)
c.1334G>A
c.*657G>A (n.*657G>A)
n.4300G>A
n.2901G>A
c.3412G>A (p.Gly1138Ser)
c.3460G>A (p.Gly1154Ser)
c.3520G>A (p.Gly1174Ser)
c.3070G>A (p.Gly1024Ser)
c.1372G>A (p.Gly458Ser)
c.1189G>A (p.Gly397Ser)
c.3421G>A (p.Gly1141Ser)
c.3373G>A (p.Gly1125Ser)
c.3142G>A (p.Gly1048Ser)
c.3043G>A (p.Gly1015Ser)
c.2224G>A (p.Gly742Ser)
n.3775G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941082G>ACA6988664ATP7Bc.*1205C>T (n.*1205C>T)
c.*2299C>T (n.*2299C>T)
c.2934C>T (p.Asp978=)
c.3555C>T (p.Asp1185=)
c.3222C>T (p.Asp1074=)
c.3303C>T (p.Asp1101=)
c.3321C>T (p.Asp1107=)
n.3694C>T
n.3918C>T
c.2490C>T (p.Asp830=)
c.2265C>T (p.Asp755=)
c.3360C>T (p.Asp1120=)
c.1333C>T
c.*656C>T (n.*656C>T)
n.4299C>T
n.2900C>T
c.3411C>T (p.Asp1137=)
c.3459C>T (p.Asp1153=)
c.3519C>T (p.Asp1173=)
c.3069C>T (p.Asp1023=)
c.1371C>T (p.Asp457=)
c.1188C>T (p.Asp396=)
c.3420C>T (p.Asp1140=)
c.3372C>T (p.Asp1124=)
c.3141C>T (p.Asp1047=)
c.3042C>T (p.Asp1014=)
c.2223C>T (p.Asp741=)
n.3774C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941082G>CCA388025855ATP7Bc.*1205C>G (n.*1205C>G)
c.*2299C>G (n.*2299C>G)
c.2934C>G (p.Asp978Glu)
c.3555C>G (p.Asp1185Glu)
c.3222C>G (p.Asp1074Glu)
c.3303C>G (p.Asp1101Glu)
c.3321C>G (p.Asp1107Glu)
n.3694C>G
n.3918C>G
c.2490C>G (p.Asp830Glu)
c.2265C>G (p.Asp755Glu)
c.3360C>G (p.Asp1120Glu)
c.1333C>G
c.*656C>G (n.*656C>G)
n.4299C>G
n.2900C>G
c.3411C>G (p.Asp1137Glu)
c.3459C>G (p.Asp1153Glu)
c.3519C>G (p.Asp1173Glu)
c.3069C>G (p.Asp1023Glu)
c.1371C>G (p.Asp457Glu)
c.1188C>G (p.Asp396Glu)
c.3420C>G (p.Asp1140Glu)
c.3372C>G (p.Asp1124Glu)
c.3141C>G (p.Asp1047Glu)
c.3042C>G (p.Asp1014Glu)
c.2223C>G (p.Asp741Glu)
n.3774C>G
13g.51941082G=CA2091559290ATP7Bc.*1205C= (n.*1205C=)
c.*2299C= (n.*2299C=)
c.2934C= (p.Asp978=)
c.3555C= (p.Asp1185=)
c.3222C= (p.Asp1074=)
c.3303C= (p.Asp1101=)
c.3321C= (p.Asp1107=)
n.3694C=
n.3918C=
c.2490C= (p.Asp830=)
c.2265C= (p.Asp755=)
c.3360C= (p.Asp1120=)
c.1333C=
c.*656C= (n.*656C=)
n.4299C=
n.2900C=
c.3411C= (p.Asp1137=)
c.3459C= (p.Asp1153=)
c.3519C= (p.Asp1173=)
c.3069C= (p.Asp1023=)
c.1371C= (p.Asp457=)
c.1188C= (p.Asp396=)
c.3420C= (p.Asp1140=)
c.3372C= (p.Asp1124=)
c.3141C= (p.Asp1047=)
c.3042C= (p.Asp1014=)
c.2223C= (p.Asp741=)
n.3774C=
13g.51941082G>TCA388025857ATP7Bc.*1205C>A (n.*1205C>A)
c.*2299C>A (n.*2299C>A)
c.2934C>A (p.Asp978Glu)
c.3555C>A (p.Asp1185Glu)
c.3222C>A (p.Asp1074Glu)
c.3303C>A (p.Asp1101Glu)
c.3321C>A (p.Asp1107Glu)
n.3694C>A
n.3918C>A
c.2490C>A (p.Asp830Glu)
c.2265C>A (p.Asp755Glu)
c.3360C>A (p.Asp1120Glu)
c.1333C>A
c.*656C>A (n.*656C>A)
n.4299C>A
n.2900C>A
c.3411C>A (p.Asp1137Glu)
c.3459C>A (p.Asp1153Glu)
c.3519C>A (p.Asp1173Glu)
c.3069C>A (p.Asp1023Glu)
c.1371C>A (p.Asp457Glu)
c.1188C>A (p.Asp396Glu)
c.3420C>A (p.Asp1140Glu)
c.3372C>A (p.Asp1124Glu)
c.3141C>A (p.Asp1047Glu)
c.3042C>A (p.Asp1014Glu)
c.2223C>A (p.Asp741Glu)
n.3774C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.51941083T>ACA388025863ATP7Bc.*1204A>T (n.*1204A>T)
c.*2298A>T (n.*2298A>T)
c.2933A>T (p.Asp978Val)
c.3554A>T (p.Asp1185Val)
c.3221A>T (p.Asp1074Val)
c.3302A>T (p.Asp1101Val)
c.3320A>T (p.Asp1107Val)
n.3693A>T
n.3917A>T
c.2489A>T (p.Asp830Val)
c.2264A>T (p.Asp755Val)
c.3359A>T (p.Asp1120Val)
c.1332A>T
c.*655A>T (n.*655A>T)
n.4298A>T
n.2899A>T
c.3410A>T (p.Asp1137Val)
c.3458A>T (p.Asp1153Val)
c.3518A>T (p.Asp1173Val)
c.3068A>T (p.Asp1023Val)
c.1370A>T (p.Asp457Val)
c.1187A>T (p.Asp396Val)
c.3419A>T (p.Asp1140Val)
c.3371A>T (p.Asp1124Val)
c.3140A>T (p.Asp1047Val)
c.3041A>T (p.Asp1014Val)
c.2222A>T (p.Asp741Val)
n.3773A>T
13g.51941083T>CCA388025866ATP7Bc.*1204A>G (n.*1204A>G)
c.*2298A>G (n.*2298A>G)
c.2933A>G (p.Asp978Gly)
c.3554A>G (p.Asp1185Gly)
c.3221A>G (p.Asp1074Gly)
c.3302A>G (p.Asp1101Gly)
c.3320A>G (p.Asp1107Gly)
n.3693A>G
n.3917A>G
c.2489A>G (p.Asp830Gly)
c.2264A>G (p.Asp755Gly)
c.3359A>G (p.Asp1120Gly)
c.1332A>G
c.*655A>G (n.*655A>G)
n.4298A>G
n.2899A>G
c.3410A>G (p.Asp1137Gly)
c.3458A>G (p.Asp1153Gly)
c.3518A>G (p.Asp1173Gly)
c.3068A>G (p.Asp1023Gly)
c.1370A>G (p.Asp457Gly)
c.1187A>G (p.Asp396Gly)
c.3419A>G (p.Asp1140Gly)
c.3371A>G (p.Asp1124Gly)
c.3140A>G (p.Asp1047Gly)
c.3041A>G (p.Asp1014Gly)
c.2222A>G (p.Asp741Gly)
n.3773A>G
13g.51941083T>GCA388025870ATP7Bc.*1204A>C (n.*1204A>C)
c.*2298A>C (n.*2298A>C)
c.2933A>C (p.Asp978Ala)
c.3554A>C (p.Asp1185Ala)
c.3221A>C (p.Asp1074Ala)
c.3302A>C (p.Asp1101Ala)
c.3320A>C (p.Asp1107Ala)
n.3693A>C
n.3917A>C
c.2489A>C (p.Asp830Ala)
c.2264A>C (p.Asp755Ala)
c.3359A>C (p.Asp1120Ala)
c.1332A>C
c.*655A>C (n.*655A>C)
n.4298A>C
n.2899A>C
c.3410A>C (p.Asp1137Ala)
c.3458A>C (p.Asp1153Ala)
c.3518A>C (p.Asp1173Ala)
c.3068A>C (p.Asp1023Ala)
c.1370A>C (p.Asp457Ala)
c.1187A>C (p.Asp396Ala)
c.3419A>C (p.Asp1140Ala)
c.3371A>C (p.Asp1124Ala)
c.3140A>C (p.Asp1047Ala)
c.3041A>C (p.Asp1014Ala)
c.2222A>C (p.Asp741Ala)
n.3773A>C
13g.51941084C>ACA388025872ATP7Bc.*1203G>T (n.*1203G>T)
c.*2297G>T (n.*2297G>T)
c.2932G>T (p.Asp978Tyr)
c.3553G>T (p.Asp1185Tyr)
c.3220G>T (p.Asp1074Tyr)
c.3301G>T (p.Asp1101Tyr)
c.3319G>T (p.Asp1107Tyr)
n.3692G>T
n.3916G>T
c.2488G>T (p.Asp830Tyr)
c.2263G>T (p.Asp755Tyr)
c.3358G>T (p.Asp1120Tyr)
c.1331G>T
c.*654G>T (n.*654G>T)
n.4297G>T
n.2898G>T
c.3409G>T (p.Asp1137Tyr)
c.3457G>T (p.Asp1153Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3067G>T (p.Asp1023Tyr)
c.1369G>T (p.Asp457Tyr)
c.1186G>T (p.Asp396Tyr)
c.3418G>T (p.Asp1140Tyr)
c.3370G>T (p.Asp1124Tyr)
c.3139G>T (p.Asp1047Tyr)
c.3040G>T (p.Asp1014Tyr)
c.2221G>T (p.Asp741Tyr)
n.3772G>T
13g.51941084C=CA2091559296ATP7Bc.*1203G= (n.*1203G=)
c.*2297G= (n.*2297G=)
c.2932G= (p.Asp978=)
c.3553G= (p.Asp1185=)
c.3220G= (p.Asp1074=)
c.3301G= (p.Asp1101=)
c.3319G= (p.Asp1107=)
n.3692G=
n.3916G=
c.2488G= (p.Asp830=)
c.2263G= (p.Asp755=)
c.3358G= (p.Asp1120=)
c.1331G=
c.*654G= (n.*654G=)
n.4297G=
n.2898G=
c.3409G= (p.Asp1137=)
c.3457G= (p.Asp1153=)
c.3517G= (p.Asp1173=)
c.3067G= (p.Asp1023=)
c.1369G= (p.Asp457=)
c.1186G= (p.Asp396=)
c.3418G= (p.Asp1140=)
c.3370G= (p.Asp1124=)
c.3139G= (p.Asp1047=)
c.3040G= (p.Asp1014=)
c.2221G= (p.Asp741=)
n.3772G=
13g.51941084C>GCA388025875ATP7Bc.*1203G>C (n.*1203G>C)
c.*2297G>C (n.*2297G>C)
c.2932G>C (p.Asp978His)
c.3553G>C (p.Asp1185His)
c.3220G>C (p.Asp1074His)
c.3301G>C (p.Asp1101His)
c.3319G>C (p.Asp1107His)
n.3692G>C
n.3916G>C
c.2488G>C (p.Asp830His)
c.2263G>C (p.Asp755His)
c.3358G>C (p.Asp1120His)
c.1331G>C
c.*654G>C (n.*654G>C)
n.4297G>C
n.2898G>C
c.3409G>C (p.Asp1137His)
c.3457G>C (p.Asp1153His)
c.3517G>C (p.Asp1173His)
c.3067G>C (p.Asp1023His)
c.1369G>C (p.Asp457His)
c.1186G>C (p.Asp396His)
c.3418G>C (p.Asp1140His)
c.3370G>C (p.Asp1124His)
c.3139G>C (p.Asp1047His)
c.3040G>C (p.Asp1014His)
c.2221G>C (p.Asp741His)
n.3772G>C
13g.51941084C>TCA388025878ATP7Bc.*1203G>A (n.*1203G>A)
c.*2297G>A (n.*2297G>A)
c.2932G>A (p.Asp978Asn)
c.3553G>A (p.Asp1185Asn)
c.3220G>A (p.Asp1074Asn)
c.3301G>A (p.Asp1101Asn)
c.3319G>A (p.Asp1107Asn)
n.3692G>A
n.3916G>A
c.2488G>A (p.Asp830Asn)
c.2263G>A (p.Asp755Asn)
c.3358G>A (p.Asp1120Asn)
c.1331G>A
c.*654G>A (n.*654G>A)
n.4297G>A
n.2898G>A
c.3409G>A (p.Asp1137Asn)
c.3457G>A (p.Asp1153Asn)
c.3517G>A (p.Asp1173Asn)
c.3067G>A (p.Asp1023Asn)
c.1369G>A (p.Asp457Asn)
c.1186G>A (p.Asp396Asn)
c.3418G>A (p.Asp1140Asn)
c.3370G>A (p.Asp1124Asn)
c.3139G>A (p.Asp1047Asn)
c.3040G>A (p.Asp1014Asn)
c.2221G>A (p.Asp741Asn)
n.3772G>A
13g.51941085A>CCA388025899ATP7Bc.*1202T>G (n.*1202T>G)
c.*2296T>G (n.*2296T>G)
c.2931T>G (p.Ile977Met)
c.3552T>G (p.Ile1184Met)
c.3219T>G (p.Ile1073Met)
c.3300T>G (p.Ile1100Met)
c.3318T>G (p.Ile1106Met)
n.3691T>G
n.3915T>G
c.2487T>G (p.Ile829Met)
c.2262T>G (p.Ile754Met)
c.3357T>G (p.Ile1119Met)
c.1330T>G
c.*653T>G (n.*653T>G)
n.4296T>G
n.2897T>G
c.3408T>G (p.Ile1136Met)
c.3456T>G (p.Ile1152Met)
c.3516T>G (p.Ile1172Met)
c.3066T>G (p.Ile1022Met)
c.1368T>G (p.Ile456Met)
c.1185T>G (p.Ile395Met)
c.3417T>G (p.Ile1139Met)
c.3369T>G (p.Ile1123Met)
c.3138T>G (p.Ile1046Met)
c.3039T>G (p.Ile1013Met)
c.2220T>G (p.Ile740Met)
n.3771T>G
13g.51941085A>GCA483893922ATP7Bc.*1202T>C (n.*1202T>C)
c.*2296T>C (n.*2296T>C)
c.2931T>C (p.Ile977=)
c.3552T>C (p.Ile1184=)
c.3219T>C (p.Ile1073=)
c.3300T>C (p.Ile1100=)
c.3318T>C (p.Ile1106=)
n.3691T>C
n.3915T>C
c.2487T>C (p.Ile829=)
c.2262T>C (p.Ile754=)
c.3357T>C (p.Ile1119=)
c.1330T>C
c.*653T>C (n.*653T>C)
n.4296T>C
n.2897T>C
c.3408T>C (p.Ile1136=)
c.3456T>C (p.Ile1152=)
c.3516T>C (p.Ile1172=)
c.3066T>C (p.Ile1022=)
c.1368T>C (p.Ile456=)
c.1185T>C (p.Ile395=)
c.3417T>C (p.Ile1139=)
c.3369T>C (p.Ile1123=)
c.3138T>C (p.Ile1046=)
c.3039T>C (p.Ile1013=)
c.2220T>C (p.Ile740=)
n.3771T>C
13g.51941085A>TCA483893921ATP7Bc.*1202T>A (n.*1202T>A)
c.*2296T>A (n.*2296T>A)
c.2931T>A (p.Ile977=)
c.3552T>A (p.Ile1184=)
c.3219T>A (p.Ile1073=)
c.3300T>A (p.Ile1100=)
c.3318T>A (p.Ile1106=)
n.3691T>A
n.3915T>A
c.2487T>A (p.Ile829=)
c.2262T>A (p.Ile754=)
c.3357T>A (p.Ile1119=)
c.1330T>A
c.*653T>A (n.*653T>A)
n.4296T>A
n.2897T>A
c.3408T>A (p.Ile1136=)
c.3456T>A (p.Ile1152=)
c.3516T>A (p.Ile1172=)
c.3066T>A (p.Ile1022=)
c.1368T>A (p.Ile456=)
c.1185T>A (p.Ile395=)
c.3417T>A (p.Ile1139=)
c.3369T>A (p.Ile1123=)
c.3138T>A (p.Ile1046=)
c.3039T>A (p.Ile1013=)
c.2220T>A (p.Ile740=)
n.3771T>A
 gnomAD v4
13g.51941086dupCA274387ATP7Bc.*1202dup (n.*1202dup)
c.*2296dup (n.*2296dup)
c.2931dup (p.Asp978Ter)
c.3552dup (p.Asp1185Ter)
c.3219dup (p.Asp1074Ter)
c.3300dup (p.Asp1101Ter)
c.3318dup (p.Asp1107Ter)
n.3691dup
n.3915dup
c.2487dup (p.Asp830Ter)
c.2262dup (p.Asp755Ter)
c.3357dup (p.Asp1120Ter)
c.1330dup
c.*653dup (n.*653dup)
n.4296dup
n.2897dup
c.3408dup (p.Asp1137Ter)
c.3456dup (p.Asp1153Ter)
c.3516dup (p.Asp1173Ter)
c.3066dup (p.Asp1023Ter)
c.1368dup (p.Asp457Ter)
c.1185dup (p.Asp396Ter)
c.3417dup (p.Asp1140Ter)
c.3369dup (p.Asp1124Ter)
c.3138dup (p.Asp1047Ter)
c.3039dup (p.Asp1014Ter)
c.2220dup (p.Asp741Ter)
n.3771dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941086A=CA2091559308ATP7Bc.*1201T= (n.*1201T=)
c.*2295T= (n.*2295T=)
c.2930T= (p.Ile977=)
c.3551T= (p.Ile1184=)
c.3218T= (p.Ile1073=)
c.3299T= (p.Ile1100=)
c.3317T= (p.Ile1106=)
n.3690T=
n.3914T=
c.2486T= (p.Ile829=)
c.2261T= (p.Ile754=)
c.3356T= (p.Ile1119=)
c.1329T=
c.*652T= (n.*652T=)
n.4295T=
n.2896T=
c.3407T= (p.Ile1136=)
c.3455T= (p.Ile1152=)
c.3515T= (p.Ile1172=)
c.3065T= (p.Ile1022=)
c.1367T= (p.Ile456=)
c.1184T= (p.Ile395=)
c.3416T= (p.Ile1139=)
c.3368T= (p.Ile1123=)
c.3137T= (p.Ile1046=)
c.3038T= (p.Ile1013=)
c.2219T= (p.Ile740=)
n.3770T=
13g.51941086A>CCA388025907ATP7Bc.*1201T>G (n.*1201T>G)
c.*2295T>G (n.*2295T>G)
c.2930T>G (p.Ile977Ser)
c.3551T>G (p.Ile1184Ser)
c.3218T>G (p.Ile1073Ser)
c.3299T>G (p.Ile1100Ser)
c.3317T>G (p.Ile1106Ser)
n.3690T>G
n.3914T>G
c.2486T>G (p.Ile829Ser)
c.2261T>G (p.Ile754Ser)
c.3356T>G (p.Ile1119Ser)
c.1329T>G
c.*652T>G (n.*652T>G)
n.4295T>G
n.2896T>G
c.3407T>G (p.Ile1136Ser)
c.3455T>G (p.Ile1152Ser)
c.3515T>G (p.Ile1172Ser)
c.3065T>G (p.Ile1022Ser)
c.1367T>G (p.Ile456Ser)
c.1184T>G (p.Ile395Ser)
c.3416T>G (p.Ile1139Ser)
c.3368T>G (p.Ile1123Ser)
c.3137T>G (p.Ile1046Ser)
c.3038T>G (p.Ile1013Ser)
c.2219T>G (p.Ile740Ser)
n.3770T>G
13g.51941086A>GCA250077094ATP7Bc.*1201T>C (n.*1201T>C)
c.*2295T>C (n.*2295T>C)
c.2930T>C (p.Ile977Thr)
c.3551T>C (p.Ile1184Thr)
c.3218T>C (p.Ile1073Thr)
c.3299T>C (p.Ile1100Thr)
c.3317T>C (p.Ile1106Thr)
n.3690T>C
n.3914T>C
c.2486T>C (p.Ile829Thr)
c.2261T>C (p.Ile754Thr)
c.3356T>C (p.Ile1119Thr)
c.1329T>C
c.*652T>C (n.*652T>C)
n.4295T>C
n.2896T>C
c.3407T>C (p.Ile1136Thr)
c.3455T>C (p.Ile1152Thr)
c.3515T>C (p.Ile1172Thr)
c.3065T>C (p.Ile1022Thr)
c.1367T>C (p.Ile456Thr)
c.1184T>C (p.Ile395Thr)
c.3416T>C (p.Ile1139Thr)
c.3368T>C (p.Ile1123Thr)
c.3137T>C (p.Ile1046Thr)
c.3038T>C (p.Ile1013Thr)
c.2219T>C (p.Ile740Thr)
n.3770T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51941086A>TCA388025917ATP7Bc.*1201T>A (n.*1201T>A)
c.*2295T>A (n.*2295T>A)
c.2930T>A (p.Ile977Asn)
c.3551T>A (p.Ile1184Asn)
c.3218T>A (p.Ile1073Asn)
c.3299T>A (p.Ile1100Asn)
c.3317T>A (p.Ile1106Asn)
n.3690T>A
n.3914T>A
c.2486T>A (p.Ile829Asn)
c.2261T>A (p.Ile754Asn)
c.3356T>A (p.Ile1119Asn)
c.1329T>A
c.*652T>A (n.*652T>A)
n.4295T>A
n.2896T>A
c.3407T>A (p.Ile1136Asn)
c.3455T>A (p.Ile1152Asn)
c.3515T>A (p.Ile1172Asn)
c.3065T>A (p.Ile1022Asn)
c.1367T>A (p.Ile456Asn)
c.1184T>A (p.Ile395Asn)
c.3416T>A (p.Ile1139Asn)
c.3368T>A (p.Ile1123Asn)
c.3137T>A (p.Ile1046Asn)
c.3038T>A (p.Ile1013Asn)
c.2219T>A (p.Ile740Asn)
n.3770T>A
13g.51941086_51941094delinsGCAGACA2695199760ATP7Bc.*1193_*1201delinsTCTGC (n.*1193_*1201delinsTCTGC)
c.*2287_*2295delinsTCTGC (n.*2287_*2295delinsTCTGC)
c.2922_2930delinsTCTGC (p.Val975LeufsTer9)
c.3543_3551delinsTCTGC (p.Val1182LeufsTer9)
c.3210_3218delinsTCTGC (p.Val1071LeufsTer9)
c.3291_3299delinsTCTGC (p.Val1098LeufsTer9)
c.3309_3317delinsTCTGC (p.Val1104LeufsTer9)
n.3682_3690delinsTCTGC
n.3906_3914delinsTCTGC
c.2478_2486delinsTCTGC (p.Val827LeufsTer9)
c.2253_2261delinsTCTGC (p.Val752LeufsTer9)
c.3348_3356delinsTCTGC (p.Val1117LeufsTer9)
c.1321_1329delinsTCTGC
c.*644_*652delinsTCTGC (n.*644_*652delinsTCTGC)
n.4287_4295delinsTCTGC
n.2888_2896delinsTCTGC
c.3399_3407delinsTCTGC (p.Val1134LeufsTer9)
c.3447_3455delinsTCTGC (p.Val1150LeufsTer9)
c.3507_3515delinsTCTGC (p.Val1170LeufsTer9)
c.3057_3065delinsTCTGC (p.Val1020LeufsTer9)
c.1359_1367delinsTCTGC (p.Val454LeufsTer9)
c.1176_1184delinsTCTGC (p.Val393LeufsTer9)
c.3408_3416delinsTCTGC (p.Val1137LeufsTer9)
c.3360_3368delinsTCTGC (p.Val1121LeufsTer9)
c.3129_3137delinsTCTGC (p.Val1044LeufsTer9)
c.3030_3038delinsTCTGC (p.Val1011LeufsTer9)
c.2211_2219delinsTCTGC (p.Val738LeufsTer9)
n.3762_3770delinsTCTGC
 ClinVar
13g.51941087T>ACA388025934ATP7Bc.*1200A>T (n.*1200A>T)
c.*2294A>T (n.*2294A>T)
c.2929A>T (p.Ile977Phe)
c.3550A>T (p.Ile1184Phe)
c.3217A>T (p.Ile1073Phe)
c.3298A>T (p.Ile1100Phe)
c.3316A>T (p.Ile1106Phe)
n.3689A>T
n.3913A>T
c.2485A>T (p.Ile829Phe)
c.2260A>T (p.Ile754Phe)
c.3355A>T (p.Ile1119Phe)
c.1328A>T
c.*651A>T (n.*651A>T)
n.4294A>T
n.2895A>T
c.3406A>T (p.Ile1136Phe)
c.3454A>T (p.Ile1152Phe)
c.3514A>T (p.Ile1172Phe)
c.3064A>T (p.Ile1022Phe)
c.1366A>T (p.Ile456Phe)
c.1183A>T (p.Ile395Phe)
c.3415A>T (p.Ile1139Phe)
c.3367A>T (p.Ile1123Phe)
c.3136A>T (p.Ile1046Phe)
c.3037A>T (p.Ile1013Phe)
c.2218A>T (p.Ile740Phe)
n.3769A>T
13g.51941087T>CCA16043757ATP7Bc.*1200A>G (n.*1200A>G)
c.*2294A>G (n.*2294A>G)
c.2929A>G (p.Ile977Val)
c.3550A>G (p.Ile1184Val)
c.3217A>G (p.Ile1073Val)
c.3298A>G (p.Ile1100Val)
c.3316A>G (p.Ile1106Val)
n.3689A>G
n.3913A>G
c.2485A>G (p.Ile829Val)
c.2260A>G (p.Ile754Val)
c.3355A>G (p.Ile1119Val)
c.1328A>G
c.*651A>G (n.*651A>G)
n.4294A>G
n.2895A>G
c.3406A>G (p.Ile1136Val)
c.3454A>G (p.Ile1152Val)
c.3514A>G (p.Ile1172Val)
c.3064A>G (p.Ile1022Val)
c.1366A>G (p.Ile456Val)
c.1183A>G (p.Ile395Val)
c.3415A>G (p.Ile1139Val)
c.3367A>G (p.Ile1123Val)
c.3136A>G (p.Ile1046Val)
c.3037A>G (p.Ile1013Val)
c.2218A>G (p.Ile740Val)
n.3769A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51941087T>GCA388025926ATP7Bc.*1200A>C (n.*1200A>C)
c.*2294A>C (n.*2294A>C)
c.2929A>C (p.Ile977Leu)
c.3550A>C (p.Ile1184Leu)
c.3217A>C (p.Ile1073Leu)
c.3298A>C (p.Ile1100Leu)
c.3316A>C (p.Ile1106Leu)
n.3689A>C
n.3913A>C
c.2485A>C (p.Ile829Leu)
c.2260A>C (p.Ile754Leu)
c.3355A>C (p.Ile1119Leu)
c.1328A>C
c.*651A>C (n.*651A>C)
n.4294A>C
n.2895A>C
c.3406A>C (p.Ile1136Leu)
c.3454A>C (p.Ile1152Leu)
c.3514A>C (p.Ile1172Leu)
c.3064A>C (p.Ile1022Leu)
c.1366A>C (p.Ile456Leu)
c.1183A>C (p.Ile395Leu)
c.3415A>C (p.Ile1139Leu)
c.3367A>C (p.Ile1123Leu)
c.3136A>C (p.Ile1046Leu)
c.3037A>C (p.Ile1013Leu)
c.2218A>C (p.Ile740Leu)
n.3769A>C
13g.51941087T=CA2091559317ATP7Bc.*1200A= (n.*1200A=)
c.*2294A= (n.*2294A=)
c.2929A= (p.Ile977=)
c.3550A= (p.Ile1184=)
c.3217A= (p.Ile1073=)
c.3298A= (p.Ile1100=)
c.3316A= (p.Ile1106=)
n.3689A=
n.3913A=
c.2485A= (p.Ile829=)
c.2260A= (p.Ile754=)
c.3355A= (p.Ile1119=)
c.1328A=
c.*651A= (n.*651A=)
n.4294A=
n.2895A=
c.3406A= (p.Ile1136=)
c.3454A= (p.Ile1152=)
c.3514A= (p.Ile1172=)
c.3064A= (p.Ile1022=)
c.1366A= (p.Ile456=)
c.1183A= (p.Ile395=)
c.3415A= (p.Ile1139=)
c.3367A= (p.Ile1123=)
c.3136A= (p.Ile1046=)
c.3037A= (p.Ile1013=)
c.2218A= (p.Ile740=)
n.3769A=
13g.51941087dupCA2580614740ATP7Bc.*1200dup (n.*1200dup)
c.*2294dup (n.*2294dup)
c.2929dup (p.Ile977AsnfsTer2)
c.3550dup (p.Ile1184AsnfsTer2)
c.3217dup (p.Ile1073AsnfsTer2)
c.3298dup (p.Ile1100AsnfsTer2)
c.3316dup (p.Ile1106AsnfsTer2)
n.3689dup
n.3913dup
c.2485dup (p.Ile829AsnfsTer2)
c.2260dup (p.Ile754AsnfsTer2)
c.3355dup (p.Ile1119AsnfsTer2)
c.1328dup
c.*651dup (n.*651dup)
n.4294dup
n.2895dup
c.3406dup (p.Ile1136AsnfsTer2)
c.3454dup (p.Ile1152AsnfsTer2)
c.3514dup (p.Ile1172AsnfsTer2)
c.3064dup (p.Ile1022AsnfsTer2)
c.1366dup (p.Ile456AsnfsTer2)
c.1183dup (p.Ile395AsnfsTer2)
c.3415dup (p.Ile1139AsnfsTer2)
c.3367dup (p.Ile1123AsnfsTer2)
c.3136dup (p.Ile1046AsnfsTer2)
c.3037dup (p.Ile1013AsnfsTer2)
c.2218dup (p.Ile740AsnfsTer2)
n.3769dup
 ClinVar
13g.51941088A>CCA483893923ATP7Bc.*1199T>G (n.*1199T>G)
c.*2293T>G (n.*2293T>G)
c.2928T>G (p.Ala976=)
c.3549T>G (p.Ala1183=)
c.3216T>G (p.Ala1072=)
c.3297T>G (p.Ala1099=)
c.3315T>G (p.Ala1105=)
n.3688T>G
n.3912T>G
c.2484T>G (p.Ala828=)
c.2259T>G (p.Ala753=)
c.3354T>G (p.Ala1118=)
c.1327T>G
c.*650T>G (n.*650T>G)
n.4293T>G
n.2894T>G
c.3405T>G (p.Ala1135=)
c.3453T>G (p.Ala1151=)
c.3513T>G (p.Ala1171=)
c.3063T>G (p.Ala1021=)
c.1365T>G (p.Ala455=)
c.1182T>G (p.Ala394=)
c.3414T>G (p.Ala1138=)
c.3366T>G (p.Ala1122=)
c.3135T>G (p.Ala1045=)
c.3036T>G (p.Ala1012=)
c.2217T>G (p.Ala739=)
n.3768T>G
13g.51941088A>GCA483893924ATP7Bc.*1199T>C (n.*1199T>C)
c.*2293T>C (n.*2293T>C)
c.2928T>C (p.Ala976=)
c.3549T>C (p.Ala1183=)
c.3216T>C (p.Ala1072=)
c.3297T>C (p.Ala1099=)
c.3315T>C (p.Ala1105=)
n.3688T>C
n.3912T>C
c.2484T>C (p.Ala828=)
c.2259T>C (p.Ala753=)
c.3354T>C (p.Ala1118=)
c.1327T>C
c.*650T>C (n.*650T>C)
n.4293T>C
n.2894T>C
c.3405T>C (p.Ala1135=)
c.3453T>C (p.Ala1151=)
c.3513T>C (p.Ala1171=)
c.3063T>C (p.Ala1021=)
c.1365T>C (p.Ala455=)
c.1182T>C (p.Ala394=)
c.3414T>C (p.Ala1138=)
c.3366T>C (p.Ala1122=)
c.3135T>C (p.Ala1045=)
c.3036T>C (p.Ala1012=)
c.2217T>C (p.Ala739=)
n.3768T>C
13g.51941088A>TCA483893925ATP7Bc.*1199T>A (n.*1199T>A)
c.*2293T>A (n.*2293T>A)
c.2928T>A (p.Ala976=)
c.3549T>A (p.Ala1183=)
c.3216T>A (p.Ala1072=)
c.3297T>A (p.Ala1099=)
c.3315T>A (p.Ala1105=)
n.3688T>A
n.3912T>A
c.2484T>A (p.Ala828=)
c.2259T>A (p.Ala753=)
c.3354T>A (p.Ala1118=)
c.1327T>A
c.*650T>A (n.*650T>A)
n.4293T>A
n.2894T>A
c.3405T>A (p.Ala1135=)
c.3453T>A (p.Ala1151=)
c.3513T>A (p.Ala1171=)
c.3063T>A (p.Ala1021=)
c.1365T>A (p.Ala455=)
c.1182T>A (p.Ala394=)
c.3414T>A (p.Ala1138=)
c.3366T>A (p.Ala1122=)
c.3135T>A (p.Ala1045=)
c.3036T>A (p.Ala1012=)
c.2217T>A (p.Ala739=)
n.3768T>A
 gnomAD v4
13g.51941088_51941090delinsAGCCA2091559322ATP7Bc.*1197_*1199delinsGCT (n.*1197_*1199delinsGCT)
c.*2291_*2293delinsGCT (n.*2291_*2293delinsGCT)
c.2926_2928delinsGCT (p.Ala976=)
c.3547_3549delinsGCT (p.Ala1183=)
c.3214_3216delinsGCT (p.Ala1072=)
c.3295_3297delinsGCT (p.Ala1099=)
c.3313_3315delinsGCT (p.Ala1105=)
n.3686_3688delinsGCT
n.3910_3912delinsGCT
c.2482_2484delinsGCT (p.Ala828=)
c.2257_2259delinsGCT (p.Ala753=)
c.3352_3354delinsGCT (p.Ala1118=)
c.1325_1327delinsGCT
c.*648_*650delinsGCT (n.*648_*650delinsGCT)
n.4291_4293delinsGCT
n.2892_2894delinsGCT
c.3403_3405delinsGCT (p.Ala1135=)
c.3451_3453delinsGCT (p.Ala1151=)
c.3511_3513delinsGCT (p.Ala1171=)
c.3061_3063delinsGCT (p.Ala1021=)
c.1363_1365delinsGCT (p.Ala455=)
c.1180_1182delinsGCT (p.Ala394=)
c.3412_3414delinsGCT (p.Ala1138=)
c.3364_3366delinsGCT (p.Ala1122=)
c.3133_3135delinsGCT (p.Ala1045=)
c.3034_3036delinsGCT (p.Ala1012=)
c.2215_2217delinsGCT (p.Ala739=)
n.3766_3768delinsGCT
13g.51941089G>ACA388025938ATP7Bc.*1198C>T (n.*1198C>T)
c.*2292C>T (n.*2292C>T)
c.2927C>T (p.Ala976Val)
c.3548C>T (p.Ala1183Val)
c.3215C>T (p.Ala1072Val)
c.3296C>T (p.Ala1099Val)
c.3314C>T (p.Ala1105Val)
n.3687C>T
n.3911C>T
c.2483C>T (p.Ala828Val)
c.2258C>T (p.Ala753Val)
c.3353C>T (p.Ala1118Val)
c.1326C>T
c.*649C>T (n.*649C>T)
n.4292C>T
n.2893C>T
c.3404C>T (p.Ala1135Val)
c.3452C>T (p.Ala1151Val)
c.3512C>T (p.Ala1171Val)
c.3062C>T (p.Ala1021Val)
c.1364C>T (p.Ala455Val)
c.1181C>T (p.Ala394Val)
c.3413C>T (p.Ala1138Val)
c.3365C>T (p.Ala1122Val)
c.3134C>T (p.Ala1045Val)
c.3035C>T (p.Ala1012Val)
c.2216C>T (p.Ala739Val)
n.3767C>T
 dbSNP
13g.51941089G>CCA171321ATP7Bc.*1198C>G (n.*1198C>G)
c.*2292C>G (n.*2292C>G)
c.2927C>G (p.Ala976Gly)
c.3548C>G (p.Ala1183Gly)
c.3215C>G (p.Ala1072Gly)
c.3296C>G (p.Ala1099Gly)
c.3314C>G (p.Ala1105Gly)
n.3687C>G
n.3911C>G
c.2483C>G (p.Ala828Gly)
c.2258C>G (p.Ala753Gly)
c.3353C>G (p.Ala1118Gly)
c.1326C>G
c.*649C>G (n.*649C>G)
n.4292C>G
n.2893C>G
c.3404C>G (p.Ala1135Gly)
c.3452C>G (p.Ala1151Gly)
c.3512C>G (p.Ala1171Gly)
c.3062C>G (p.Ala1021Gly)
c.1364C>G (p.Ala455Gly)
c.1181C>G (p.Ala394Gly)
c.3413C>G (p.Ala1138Gly)
c.3365C>G (p.Ala1122Gly)
c.3134C>G (p.Ala1045Gly)
c.3035C>G (p.Ala1012Gly)
c.2216C>G (p.Ala739Gly)
n.3767C>G
 ClinVar dbSNP
13g.51941089G=CA2091559331ATP7Bc.*1198C= (n.*1198C=)
c.*2292C= (n.*2292C=)
c.2927C= (p.Ala976=)
c.3548C= (p.Ala1183=)
c.3215C= (p.Ala1072=)
c.3296C= (p.Ala1099=)
c.3314C= (p.Ala1105=)
n.3687C=
n.3911C=
c.2483C= (p.Ala828=)
c.2258C= (p.Ala753=)
c.3353C= (p.Ala1118=)
c.1326C=
c.*649C= (n.*649C=)
n.4292C=
n.2893C=
c.3404C= (p.Ala1135=)
c.3452C= (p.Ala1151=)
c.3512C= (p.Ala1171=)
c.3062C= (p.Ala1021=)
c.1364C= (p.Ala455=)
c.1181C= (p.Ala394=)
c.3413C= (p.Ala1138=)
c.3365C= (p.Ala1122=)
c.3134C= (p.Ala1045=)
c.3035C= (p.Ala1012=)
c.2216C= (p.Ala739=)
n.3767C=
13g.51941089G>TCA388025941ATP7Bc.*1198C>A (n.*1198C>A)
c.*2292C>A (n.*2292C>A)
c.2927C>A (p.Ala976Asp)
c.3548C>A (p.Ala1183Asp)
c.3215C>A (p.Ala1072Asp)
c.3296C>A (p.Ala1099Asp)
c.3314C>A (p.Ala1105Asp)
n.3687C>A
n.3911C>A
c.2483C>A (p.Ala828Asp)
c.2258C>A (p.Ala753Asp)
c.3353C>A (p.Ala1118Asp)
c.1326C>A
c.*649C>A (n.*649C>A)
n.4292C>A
n.2893C>A
c.3404C>A (p.Ala1135Asp)
c.3452C>A (p.Ala1151Asp)
c.3512C>A (p.Ala1171Asp)
c.3062C>A (p.Ala1021Asp)
c.1364C>A (p.Ala455Asp)
c.1181C>A (p.Ala394Asp)
c.3413C>A (p.Ala1138Asp)
c.3365C>A (p.Ala1122Asp)
c.3134C>A (p.Ala1045Asp)
c.3035C>A (p.Ala1012Asp)
c.2216C>A (p.Ala739Asp)
n.3767C>A
13g.51941089_51941090delCA250077096ATP7Bc.*1197_*1198del (n.*1197_*1198del)
c.*2291_*2292del (n.*2291_*2292del)
c.2926_2927del (p.Ala976TyrfsTer2)
c.3547_3548del (p.Ala1183TyrfsTer2)
c.3214_3215del (p.Ala1072TyrfsTer2)
c.3295_3296del (p.Ala1099TyrfsTer2)
c.3313_3314del (p.Ala1105TyrfsTer2)
n.3686_3687del
n.3910_3911del
c.2482_2483del (p.Ala828TyrfsTer2)
c.2257_2258del (p.Ala753TyrfsTer2)
c.3352_3353del (p.Ala1118TyrfsTer2)
c.1325_1326del
c.*648_*649del (n.*648_*649del)
n.4291_4292del
n.2892_2893del
c.3403_3404del (p.Ala1135TyrfsTer2)
c.3451_3452del (p.Ala1151TyrfsTer2)
c.3511_3512del (p.Ala1171TyrfsTer2)
c.3061_3062del (p.Ala1021TyrfsTer2)
c.1363_1364del (p.Ala455TyrfsTer2)
c.1180_1181del (p.Ala394TyrfsTer2)
c.3412_3413del (p.Ala1138TyrfsTer2)
c.3364_3365del (p.Ala1122TyrfsTer2)
c.3133_3134del (p.Ala1045TyrfsTer2)
c.3034_3035del (p.Ala1012TyrfsTer2)
c.2215_2216del (p.Ala739TyrfsTer2)
n.3766_3767del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941090C>ACA388025944ATP7Bc.*1197G>T (n.*1197G>T)
c.*2291G>T (n.*2291G>T)
c.2926G>T (p.Ala976Ser)
c.3547G>T (p.Ala1183Ser)
c.3214G>T (p.Ala1072Ser)
c.3295G>T (p.Ala1099Ser)
c.3313G>T (p.Ala1105Ser)
n.3686G>T
n.3910G>T
c.2482G>T (p.Ala828Ser)
c.2257G>T (p.Ala753Ser)
c.3352G>T (p.Ala1118Ser)
c.1325G>T
c.*648G>T (n.*648G>T)
n.4291G>T
n.2892G>T
c.3403G>T (p.Ala1135Ser)
c.3451G>T (p.Ala1151Ser)
c.3511G>T (p.Ala1171Ser)
c.3061G>T (p.Ala1021Ser)
c.1363G>T (p.Ala455Ser)
c.1180G>T (p.Ala394Ser)
c.3412G>T (p.Ala1138Ser)
c.3364G>T (p.Ala1122Ser)
c.3133G>T (p.Ala1045Ser)
c.3034G>T (p.Ala1012Ser)
c.2215G>T (p.Ala739Ser)
n.3766G>T
13g.51941090C>GCA388025946ATP7Bc.*1197G>C (n.*1197G>C)
c.*2291G>C (n.*2291G>C)
c.2926G>C (p.Ala976Pro)
c.3547G>C (p.Ala1183Pro)
c.3214G>C (p.Ala1072Pro)
c.3295G>C (p.Ala1099Pro)
c.3313G>C (p.Ala1105Pro)
n.3686G>C
n.3910G>C
c.2482G>C (p.Ala828Pro)
c.2257G>C (p.Ala753Pro)
c.3352G>C (p.Ala1118Pro)
c.1325G>C
c.*648G>C (n.*648G>C)
n.4291G>C
n.2892G>C
c.3403G>C (p.Ala1135Pro)
c.3451G>C (p.Ala1151Pro)
c.3511G>C (p.Ala1171Pro)
c.3061G>C (p.Ala1021Pro)
c.1363G>C (p.Ala455Pro)
c.1180G>C (p.Ala394Pro)
c.3412G>C (p.Ala1138Pro)
c.3364G>C (p.Ala1122Pro)
c.3133G>C (p.Ala1045Pro)
c.3034G>C (p.Ala1012Pro)
c.2215G>C (p.Ala739Pro)
n.3766G>C
13g.51941090C>TCA388025947ATP7Bc.*1197G>A (n.*1197G>A)
c.*2291G>A (n.*2291G>A)
c.2926G>A (p.Ala976Thr)
c.3547G>A (p.Ala1183Thr)
c.3214G>A (p.Ala1072Thr)
c.3295G>A (p.Ala1099Thr)
c.3313G>A (p.Ala1105Thr)
n.3686G>A
n.3910G>A
c.2482G>A (p.Ala828Thr)
c.2257G>A (p.Ala753Thr)
c.3352G>A (p.Ala1118Thr)
c.1325G>A
c.*648G>A (n.*648G>A)
n.4291G>A
n.2892G>A
c.3403G>A (p.Ala1135Thr)
c.3451G>A (p.Ala1151Thr)
c.3511G>A (p.Ala1171Thr)
c.3061G>A (p.Ala1021Thr)
c.1363G>A (p.Ala455Thr)
c.1180G>A (p.Ala394Thr)
c.3412G>A (p.Ala1138Thr)
c.3364G>A (p.Ala1122Thr)
c.3133G>A (p.Ala1045Thr)
c.3034G>A (p.Ala1012Thr)
c.2215G>A (p.Ala739Thr)
n.3766G>A
 ClinVar dbSNP gnomAD v4
13g.51941091C>ACA483893926ATP7Bc.*1196G>T (n.*1196G>T)
c.*2290G>T (n.*2290G>T)
c.2925G>T (p.Val975=)
c.3546G>T (p.Val1182=)
c.3213G>T (p.Val1071=)
c.3294G>T (p.Val1098=)
c.3312G>T (p.Val1104=)
n.3685G>T
n.3909G>T
c.2481G>T (p.Val827=)
c.2256G>T (p.Val752=)
c.3351G>T (p.Val1117=)
c.1324G>T
c.*647G>T (n.*647G>T)
n.4290G>T
n.2891G>T
c.3402G>T (p.Val1134=)
c.3450G>T (p.Val1150=)
c.3510G>T (p.Val1170=)
c.3060G>T (p.Val1020=)
c.1362G>T (p.Val454=)
c.1179G>T (p.Val393=)
c.3411G>T (p.Val1137=)
c.3363G>T (p.Val1121=)
c.3132G>T (p.Val1044=)
c.3033G>T (p.Val1011=)
c.2214G>T (p.Val738=)
n.3765G>T
13g.51941091C>GCA483893928ATP7Bc.*1196G>C (n.*1196G>C)
c.*2290G>C (n.*2290G>C)
c.2925G>C (p.Val975=)
c.3546G>C (p.Val1182=)
c.3213G>C (p.Val1071=)
c.3294G>C (p.Val1098=)
c.3312G>C (p.Val1104=)
n.3685G>C
n.3909G>C
c.2481G>C (p.Val827=)
c.2256G>C (p.Val752=)
c.3351G>C (p.Val1117=)
c.1324G>C
c.*647G>C (n.*647G>C)
n.4290G>C
n.2891G>C
c.3402G>C (p.Val1134=)
c.3450G>C (p.Val1150=)
c.3510G>C (p.Val1170=)
c.3060G>C (p.Val1020=)
c.1362G>C (p.Val454=)
c.1179G>C (p.Val393=)
c.3411G>C (p.Val1137=)
c.3363G>C (p.Val1121=)
c.3132G>C (p.Val1044=)
c.3033G>C (p.Val1011=)
c.2214G>C (p.Val738=)
n.3765G>C
13g.51941091C>TCA483893927ATP7Bc.*1196G>A (n.*1196G>A)
c.*2290G>A (n.*2290G>A)
c.2925G>A (p.Val975=)
c.3546G>A (p.Val1182=)
c.3213G>A (p.Val1071=)
c.3294G>A (p.Val1098=)
c.3312G>A (p.Val1104=)
n.3685G>A
n.3909G>A
c.2481G>A (p.Val827=)
c.2256G>A (p.Val752=)
c.3351G>A (p.Val1117=)
c.1324G>A
c.*647G>A (n.*647G>A)
n.4290G>A
n.2891G>A
c.3402G>A (p.Val1134=)
c.3450G>A (p.Val1150=)
c.3510G>A (p.Val1170=)
c.3060G>A (p.Val1020=)
c.1362G>A (p.Val454=)
c.1179G>A (p.Val393=)
c.3411G>A (p.Val1137=)
c.3363G>A (p.Val1121=)
c.3132G>A (p.Val1044=)
c.3033G>A (p.Val1011=)
c.2214G>A (p.Val738=)
n.3765G>A
 gnomAD v4
13g.51941092A>CCA388025949ATP7Bc.*1195T>G (n.*1195T>G)
c.*2289T>G (n.*2289T>G)
c.2924T>G (p.Val975Gly)
c.3545T>G (p.Val1182Gly)
c.3212T>G (p.Val1071Gly)
c.3293T>G (p.Val1098Gly)
c.3311T>G (p.Val1104Gly)
n.3684T>G
n.3908T>G
c.2480T>G (p.Val827Gly)
c.2255T>G (p.Val752Gly)
c.3350T>G (p.Val1117Gly)
c.1323T>G
c.*646T>G (n.*646T>G)
n.4289T>G
n.2890T>G
c.3401T>G (p.Val1134Gly)
c.3449T>G (p.Val1150Gly)
c.3509T>G (p.Val1170Gly)
c.3059T>G (p.Val1020Gly)
c.1361T>G (p.Val454Gly)
c.1178T>G (p.Val393Gly)
c.3410T>G (p.Val1137Gly)
c.3362T>G (p.Val1121Gly)
c.3131T>G (p.Val1044Gly)
c.3032T>G (p.Val1011Gly)
c.2213T>G (p.Val738Gly)
n.3764T>G
13g.51941092A>GCA388025951ATP7Bc.*1195T>C (n.*1195T>C)
c.*2289T>C (n.*2289T>C)
c.2924T>C (p.Val975Ala)
c.3545T>C (p.Val1182Ala)
c.3212T>C (p.Val1071Ala)
c.3293T>C (p.Val1098Ala)
c.3311T>C (p.Val1104Ala)
n.3684T>C
n.3908T>C
c.2480T>C (p.Val827Ala)
c.2255T>C (p.Val752Ala)
c.3350T>C (p.Val1117Ala)
c.1323T>C
c.*646T>C (n.*646T>C)
n.4289T>C
n.2890T>C
c.3401T>C (p.Val1134Ala)
c.3449T>C (p.Val1150Ala)
c.3509T>C (p.Val1170Ala)
c.3059T>C (p.Val1020Ala)
c.1361T>C (p.Val454Ala)
c.1178T>C (p.Val393Ala)
c.3410T>C (p.Val1137Ala)
c.3362T>C (p.Val1121Ala)
c.3131T>C (p.Val1044Ala)
c.3032T>C (p.Val1011Ala)
c.2213T>C (p.Val738Ala)
n.3764T>C
13g.51941092A>TCA388025953ATP7Bc.*1195T>A (n.*1195T>A)
c.*2289T>A (n.*2289T>A)
c.2924T>A (p.Val975Glu)
c.3545T>A (p.Val1182Glu)
c.3212T>A (p.Val1071Glu)
c.3293T>A (p.Val1098Glu)
c.3311T>A (p.Val1104Glu)
n.3684T>A
n.3908T>A
c.2480T>A (p.Val827Glu)
c.2255T>A (p.Val752Glu)
c.3350T>A (p.Val1117Glu)
c.1323T>A
c.*646T>A (n.*646T>A)
n.4289T>A
n.2890T>A
c.3401T>A (p.Val1134Glu)
c.3449T>A (p.Val1150Glu)
c.3509T>A (p.Val1170Glu)
c.3059T>A (p.Val1020Glu)
c.1361T>A (p.Val454Glu)
c.1178T>A (p.Val393Glu)
c.3410T>A (p.Val1137Glu)
c.3362T>A (p.Val1121Glu)
c.3131T>A (p.Val1044Glu)
c.3032T>A (p.Val1011Glu)
c.2213T>A (p.Val738Glu)
n.3764T>A
13g.51941092dupCA2695199761ATP7Bc.*1195dup (n.*1195dup)
c.*2289dup (n.*2289dup)
c.2924dup (p.Ala976GlyfsTer3)
c.3545dup (p.Ala1183GlyfsTer3)
c.3212dup (p.Ala1072GlyfsTer3)
c.3293dup (p.Ala1099GlyfsTer3)
c.3311dup (p.Ala1105GlyfsTer3)
n.3684dup
n.3908dup
c.2480dup (p.Ala828GlyfsTer3)
c.2255dup (p.Ala753GlyfsTer3)
c.3350dup (p.Ala1118GlyfsTer3)
c.1323dup
c.*646dup (n.*646dup)
n.4289dup
n.2890dup
c.3401dup (p.Ala1135GlyfsTer3)
c.3449dup (p.Ala1151GlyfsTer3)
c.3509dup (p.Ala1171GlyfsTer3)
c.3059dup (p.Ala1021GlyfsTer3)
c.1361dup (p.Ala455GlyfsTer3)
c.1178dup (p.Ala394GlyfsTer3)
c.3410dup (p.Ala1138GlyfsTer3)
c.3362dup (p.Ala1122GlyfsTer3)
c.3131dup (p.Ala1045GlyfsTer3)
c.3032dup (p.Ala1012GlyfsTer3)
c.2213dup (p.Ala739GlyfsTer3)
n.3764dup
 ClinVar
13g.51941093C>ACA388025959ATP7Bc.*1194G>T (n.*1194G>T)
c.*2288G>T (n.*2288G>T)
c.2923G>T (p.Val975Leu)
c.3544G>T (p.Val1182Leu)
c.3211G>T (p.Val1071Leu)
c.3292G>T (p.Val1098Leu)
c.3310G>T (p.Val1104Leu)
n.3683G>T
n.3907G>T
c.2479G>T (p.Val827Leu)
c.2254G>T (p.Val752Leu)
c.3349G>T (p.Val1117Leu)
c.1322G>T
c.*645G>T (n.*645G>T)
n.4288G>T
n.2889G>T
c.3400G>T (p.Val1134Leu)
c.3448G>T (p.Val1150Leu)
c.3508G>T (p.Val1170Leu)
c.3058G>T (p.Val1020Leu)
c.1360G>T (p.Val454Leu)
c.1177G>T (p.Val393Leu)
c.3409G>T (p.Val1137Leu)
c.3361G>T (p.Val1121Leu)
c.3130G>T (p.Val1044Leu)
c.3031G>T (p.Val1011Leu)
c.2212G>T (p.Val738Leu)
n.3763G>T
 dbSNP
13g.51941093C=CA2091559342ATP7Bc.*1194G= (n.*1194G=)
c.*2288G= (n.*2288G=)
c.2923G= (p.Val975=)
c.3544G= (p.Val1182=)
c.3211G= (p.Val1071=)
c.3292G= (p.Val1098=)
c.3310G= (p.Val1104=)
n.3683G=
n.3907G=
c.2479G= (p.Val827=)
c.2254G= (p.Val752=)
c.3349G= (p.Val1117=)
c.1322G=
c.*645G= (n.*645G=)
n.4288G=
n.2889G=
c.3400G= (p.Val1134=)
c.3448G= (p.Val1150=)
c.3508G= (p.Val1170=)
c.3058G= (p.Val1020=)
c.1360G= (p.Val454=)
c.1177G= (p.Val393=)
c.3409G= (p.Val1137=)
c.3361G= (p.Val1121=)
c.3130G= (p.Val1044=)
c.3031G= (p.Val1011=)
c.2212G= (p.Val738=)
n.3763G=
13g.51941093C>GCA388025964ATP7Bc.*1194G>C (n.*1194G>C)
c.*2288G>C (n.*2288G>C)
c.2923G>C (p.Val975Leu)
c.3544G>C (p.Val1182Leu)
c.3211G>C (p.Val1071Leu)
c.3292G>C (p.Val1098Leu)
c.3310G>C (p.Val1104Leu)
n.3683G>C
n.3907G>C
c.2479G>C (p.Val827Leu)
c.2254G>C (p.Val752Leu)
c.3349G>C (p.Val1117Leu)
c.1322G>C
c.*645G>C (n.*645G>C)
n.4288G>C
n.2889G>C
c.3400G>C (p.Val1134Leu)
c.3448G>C (p.Val1150Leu)
c.3508G>C (p.Val1170Leu)
c.3058G>C (p.Val1020Leu)
c.1360G>C (p.Val454Leu)
c.1177G>C (p.Val393Leu)
c.3409G>C (p.Val1137Leu)
c.3361G>C (p.Val1121Leu)
c.3130G>C (p.Val1044Leu)
c.3031G>C (p.Val1011Leu)
c.2212G>C (p.Val738Leu)
n.3763G>C
 ClinVar
13g.51941093C>TCA388025967ATP7Bc.*1194G>A (n.*1194G>A)
c.*2288G>A (n.*2288G>A)
c.2923G>A (p.Val975Met)
c.3544G>A (p.Val1182Met)
c.3211G>A (p.Val1071Met)
c.3292G>A (p.Val1098Met)
c.3310G>A (p.Val1104Met)
n.3683G>A
n.3907G>A
c.2479G>A (p.Val827Met)
c.2254G>A (p.Val752Met)
c.3349G>A (p.Val1117Met)
c.1322G>A
c.*645G>A (n.*645G>A)
n.4288G>A
n.2889G>A
c.3400G>A (p.Val1134Met)
c.3448G>A (p.Val1150Met)
c.3508G>A (p.Val1170Met)
c.3058G>A (p.Val1020Met)
c.1360G>A (p.Val454Met)
c.1177G>A (p.Val393Met)
c.3409G>A (p.Val1137Met)
c.3361G>A (p.Val1121Met)
c.3130G>A (p.Val1044Met)
c.3031G>A (p.Val1011Met)
c.2212G>A (p.Val738Met)
n.3763G>A
13g.51941094C>ACA483893929ATP7Bc.*1193G>T (n.*1193G>T)
c.*2287G>T (n.*2287G>T)
c.2922G>T (p.Leu974=)
c.3543G>T (p.Leu1181=)
c.3210G>T (p.Leu1070=)
c.3291G>T (p.Leu1097=)
c.3309G>T (p.Leu1103=)
n.3682G>T
n.3906G>T
c.2478G>T (p.Leu826=)
c.2253G>T (p.Leu751=)
c.3348G>T (p.Leu1116=)
c.1321G>T
c.*644G>T (n.*644G>T)
n.4287G>T
n.2888G>T
c.3399G>T (p.Leu1133=)
c.3447G>T (p.Leu1149=)
c.3507G>T (p.Leu1169=)
c.3057G>T (p.Leu1019=)
c.1359G>T (p.Leu453=)
c.1176G>T (p.Leu392=)
c.3408G>T (p.Leu1136=)
c.3360G>T (p.Leu1120=)
c.3129G>T (p.Leu1043=)
c.3030G>T (p.Leu1010=)
c.2211G>T (p.Leu737=)
n.3762G>T
13g.51941094C=CA2091559346ATP7Bc.*1193G= (n.*1193G=)
c.*2287G= (n.*2287G=)
c.2922G= (p.Leu974=)
c.3543G= (p.Leu1181=)
c.3210G= (p.Leu1070=)
c.3291G= (p.Leu1097=)
c.3309G= (p.Leu1103=)
n.3682G=
n.3906G=
c.2478G= (p.Leu826=)
c.2253G= (p.Leu751=)
c.3348G= (p.Leu1116=)
c.1321G=
c.*644G= (n.*644G=)
n.4287G=
n.2888G=
c.3399G= (p.Leu1133=)
c.3447G= (p.Leu1149=)
c.3507G= (p.Leu1169=)
c.3057G= (p.Leu1019=)
c.1359G= (p.Leu453=)
c.1176G= (p.Leu392=)
c.3408G= (p.Leu1136=)
c.3360G= (p.Leu1120=)
c.3129G= (p.Leu1043=)
c.3030G= (p.Leu1010=)
c.2211G= (p.Leu737=)
n.3762G=
13g.51941094C>GCA250077102ATP7Bc.*1193G>C (n.*1193G>C)
c.*2287G>C (n.*2287G>C)
c.2922G>C (p.Leu974=)
c.3543G>C (p.Leu1181=)
c.3210G>C (p.Leu1070=)
c.3291G>C (p.Leu1097=)
c.3309G>C (p.Leu1103=)
n.3682G>C
n.3906G>C
c.2478G>C (p.Leu826=)
c.2253G>C (p.Leu751=)
c.3348G>C (p.Leu1116=)
c.1321G>C
c.*644G>C (n.*644G>C)
n.4287G>C
n.2888G>C
c.3399G>C (p.Leu1133=)
c.3447G>C (p.Leu1149=)
c.3507G>C (p.Leu1169=)
c.3057G>C (p.Leu1019=)
c.1359G>C (p.Leu453=)
c.1176G>C (p.Leu392=)
c.3408G>C (p.Leu1136=)
c.3360G>C (p.Leu1120=)
c.3129G>C (p.Leu1043=)
c.3030G>C (p.Leu1010=)
c.2211G>C (p.Leu737=)
n.3762G>C
 dbSNP gnomAD v4
13g.51941094C>TCA483893930ATP7Bc.*1193G>A (n.*1193G>A)
c.*2287G>A (n.*2287G>A)
c.2922G>A (p.Leu974=)
c.3543G>A (p.Leu1181=)
c.3210G>A (p.Leu1070=)
c.3291G>A (p.Leu1097=)
c.3309G>A (p.Leu1103=)
n.3682G>A
n.3906G>A
c.2478G>A (p.Leu826=)
c.2253G>A (p.Leu751=)
c.3348G>A (p.Leu1116=)
c.1321G>A
c.*644G>A (n.*644G>A)
n.4287G>A
n.2888G>A
c.3399G>A (p.Leu1133=)
c.3447G>A (p.Leu1149=)
c.3507G>A (p.Leu1169=)
c.3057G>A (p.Leu1019=)
c.1359G>A (p.Leu453=)
c.1176G>A (p.Leu392=)
c.3408G>A (p.Leu1136=)
c.3360G>A (p.Leu1120=)
c.3129G>A (p.Leu1043=)
c.3030G>A (p.Leu1010=)
c.2211G>A (p.Leu737=)
n.3762G>A
13g.51941095A>CCA388025979ATP7Bc.*1192T>G (n.*1192T>G)
c.*2286T>G (n.*2286T>G)
c.2921T>G (p.Leu974Arg)
c.3542T>G (p.Leu1181Arg)
c.3209T>G (p.Leu1070Arg)
c.3290T>G (p.Leu1097Arg)
c.3308T>G (p.Leu1103Arg)
n.3681T>G
n.3905T>G
c.2477T>G (p.Leu826Arg)
c.2252T>G (p.Leu751Arg)
c.3347T>G (p.Leu1116Arg)
c.1320T>G
c.*643T>G (n.*643T>G)
n.4286T>G
n.2887T>G
c.3398T>G (p.Leu1133Arg)
c.3446T>G (p.Leu1149Arg)
c.3506T>G (p.Leu1169Arg)
c.3056T>G (p.Leu1019Arg)
c.1358T>G (p.Leu453Arg)
c.1175T>G (p.Leu392Arg)
c.3407T>G (p.Leu1136Arg)
c.3359T>G (p.Leu1120Arg)
c.3128T>G (p.Leu1043Arg)
c.3029T>G (p.Leu1010Arg)
c.2210T>G (p.Leu737Arg)
n.3761T>G
13g.51941095A>GCA388025974ATP7Bc.*1192T>C (n.*1192T>C)
c.*2286T>C (n.*2286T>C)
c.2921T>C (p.Leu974Pro)
c.3542T>C (p.Leu1181Pro)
c.3209T>C (p.Leu1070Pro)
c.3290T>C (p.Leu1097Pro)
c.3308T>C (p.Leu1103Pro)
n.3681T>C
n.3905T>C
c.2477T>C (p.Leu826Pro)
c.2252T>C (p.Leu751Pro)
c.3347T>C (p.Leu1116Pro)
c.1320T>C
c.*643T>C (n.*643T>C)
n.4286T>C
n.2887T>C
c.3398T>C (p.Leu1133Pro)
c.3446T>C (p.Leu1149Pro)
c.3506T>C (p.Leu1169Pro)
c.3056T>C (p.Leu1019Pro)
c.1358T>C (p.Leu453Pro)
c.1175T>C (p.Leu392Pro)
c.3407T>C (p.Leu1136Pro)
c.3359T>C (p.Leu1120Pro)
c.3128T>C (p.Leu1043Pro)
c.3029T>C (p.Leu1010Pro)
c.2210T>C (p.Leu737Pro)
n.3761T>C
 gnomAD v4
13g.51941095A>TCA388025972ATP7Bc.*1192T>A (n.*1192T>A)
c.*2286T>A (n.*2286T>A)
c.2921T>A (p.Leu974Gln)
c.3542T>A (p.Leu1181Gln)
c.3209T>A (p.Leu1070Gln)
c.3290T>A (p.Leu1097Gln)
c.3308T>A (p.Leu1103Gln)
n.3681T>A
n.3905T>A
c.2477T>A (p.Leu826Gln)
c.2252T>A (p.Leu751Gln)
c.3347T>A (p.Leu1116Gln)
c.1320T>A
c.*643T>A (n.*643T>A)
n.4286T>A
n.2887T>A
c.3398T>A (p.Leu1133Gln)
c.3446T>A (p.Leu1149Gln)
c.3506T>A (p.Leu1169Gln)
c.3056T>A (p.Leu1019Gln)
c.1358T>A (p.Leu453Gln)
c.1175T>A (p.Leu392Gln)
c.3407T>A (p.Leu1136Gln)
c.3359T>A (p.Leu1120Gln)
c.3128T>A (p.Leu1043Gln)
c.3029T>A (p.Leu1010Gln)
c.2210T>A (p.Leu737Gln)
n.3761T>A
13g.51941096G>ACA483893931ATP7Bc.*1191C>T (n.*1191C>T)
c.*2285C>T (n.*2285C>T)
c.2920C>T (p.Leu974=)
c.3541C>T (p.Leu1181=)
c.3208C>T (p.Leu1070=)
c.3289C>T (p.Leu1097=)
c.3307C>T (p.Leu1103=)
n.3680C>T
n.3904C>T
c.2476C>T (p.Leu826=)
c.2251C>T (p.Leu751=)
c.3346C>T (p.Leu1116=)
c.1319C>T
c.*642C>T (n.*642C>T)
n.4285C>T
n.2886C>T
c.3397C>T (p.Leu1133=)
c.3445C>T (p.Leu1149=)
c.3505C>T (p.Leu1169=)
c.3055C>T (p.Leu1019=)
c.1357C>T (p.Leu453=)
c.1174C>T (p.Leu392=)
c.3406C>T (p.Leu1136=)
c.3358C>T (p.Leu1120=)
c.3127C>T (p.Leu1043=)
c.3028C>T (p.Leu1010=)
c.2209C>T (p.Leu737=)
n.3760C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51941096G>CCA6988665ATP7Bc.*1191C>G (n.*1191C>G)
c.*2285C>G (n.*2285C>G)
c.2920C>G (p.Leu974Val)
c.3541C>G (p.Leu1181Val)
c.3208C>G (p.Leu1070Val)
c.3289C>G (p.Leu1097Val)
c.3307C>G (p.Leu1103Val)
n.3680C>G
n.3904C>G
c.2476C>G (p.Leu826Val)
c.2251C>G (p.Leu751Val)
c.3346C>G (p.Leu1116Val)
c.1319C>G
c.*642C>G (n.*642C>G)
n.4285C>G
n.2886C>G
c.3397C>G (p.Leu1133Val)
c.3445C>G (p.Leu1149Val)
c.3505C>G (p.Leu1169Val)
c.3055C>G (p.Leu1019Val)
c.1357C>G (p.Leu453Val)
c.1174C>G (p.Leu392Val)
c.3406C>G (p.Leu1136Val)
c.3358C>G (p.Leu1120Val)
c.3127C>G (p.Leu1043Val)
c.3028C>G (p.Leu1010Val)
c.2209C>G (p.Leu737Val)
n.3760C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941096G=CA2091559350ATP7Bc.*1191C= (n.*1191C=)
c.*2285C= (n.*2285C=)
c.2920C= (p.Leu974=)
c.3541C= (p.Leu1181=)
c.3208C= (p.Leu1070=)
c.3289C= (p.Leu1097=)
c.3307C= (p.Leu1103=)
n.3680C=
n.3904C=
c.2476C= (p.Leu826=)
c.2251C= (p.Leu751=)
c.3346C= (p.Leu1116=)
c.1319C=
c.*642C= (n.*642C=)
n.4285C=
n.2886C=
c.3397C= (p.Leu1133=)
c.3445C= (p.Leu1149=)
c.3505C= (p.Leu1169=)
c.3055C= (p.Leu1019=)
c.1357C= (p.Leu453=)
c.1174C= (p.Leu392=)
c.3406C= (p.Leu1136=)
c.3358C= (p.Leu1120=)
c.3127C= (p.Leu1043=)
c.3028C= (p.Leu1010=)
c.2209C= (p.Leu737=)
n.3760C=
13g.51941096G>TCA388025982ATP7Bc.*1191C>A (n.*1191C>A)
c.*2285C>A (n.*2285C>A)
c.2920C>A (p.Leu974Met)
c.3541C>A (p.Leu1181Met)
c.3208C>A (p.Leu1070Met)
c.3289C>A (p.Leu1097Met)
c.3307C>A (p.Leu1103Met)
n.3680C>A
n.3904C>A
c.2476C>A (p.Leu826Met)
c.2251C>A (p.Leu751Met)
c.3346C>A (p.Leu1116Met)
c.1319C>A
c.*642C>A (n.*642C>A)
n.4285C>A
n.2886C>A
c.3397C>A (p.Leu1133Met)
c.3445C>A (p.Leu1149Met)
c.3505C>A (p.Leu1169Met)
c.3055C>A (p.Leu1019Met)
c.1357C>A (p.Leu453Met)
c.1174C>A (p.Leu392Met)
c.3406C>A (p.Leu1136Met)
c.3358C>A (p.Leu1120Met)
c.3127C>A (p.Leu1043Met)
c.3028C>A (p.Leu1010Met)
c.2209C>A (p.Leu737Met)
n.3760C>A
13g.51941097G>ACA483893932ATP7Bc.*1190C>T (n.*1190C>T)
c.*2284C>T (n.*2284C>T)
c.2919C>T (p.Ile973=)
c.3540C>T (p.Ile1180=)
c.3207C>T (p.Ile1069=)
c.3288C>T (p.Ile1096=)
c.3306C>T (p.Ile1102=)
n.3679C>T
n.3903C>T
c.2475C>T (p.Ile825=)
c.2250C>T (p.Ile750=)
c.3345C>T (p.Ile1115=)
c.1318C>T
c.*641C>T (n.*641C>T)
n.4284C>T
n.2885C>T
c.3396C>T (p.Ile1132=)
c.3444C>T (p.Ile1148=)
c.3504C>T (p.Ile1168=)
c.3054C>T (p.Ile1018=)
c.1356C>T (p.Ile452=)
c.1173C>T (p.Ile391=)
c.3405C>T (p.Ile1135=)
c.3357C>T (p.Ile1119=)
c.3126C>T (p.Ile1042=)
c.3027C>T (p.Ile1009=)
c.2208C>T (p.Ile736=)
n.3759C>T
13g.51941097G>CCA388025987ATP7Bc.*1190C>G (n.*1190C>G)
c.*2284C>G (n.*2284C>G)
c.2919C>G (p.Ile973Met)
c.3540C>G (p.Ile1180Met)
c.3207C>G (p.Ile1069Met)
c.3288C>G (p.Ile1096Met)
c.3306C>G (p.Ile1102Met)
n.3679C>G
n.3903C>G
c.2475C>G (p.Ile825Met)
c.2250C>G (p.Ile750Met)
c.3345C>G (p.Ile1115Met)
c.1318C>G
c.*641C>G (n.*641C>G)
n.4284C>G
n.2885C>G
c.3396C>G (p.Ile1132Met)
c.3444C>G (p.Ile1148Met)
c.3504C>G (p.Ile1168Met)
c.3054C>G (p.Ile1018Met)
c.1356C>G (p.Ile452Met)
c.1173C>G (p.Ile391Met)
c.3405C>G (p.Ile1135Met)
c.3357C>G (p.Ile1119Met)
c.3126C>G (p.Ile1042Met)
c.3027C>G (p.Ile1009Met)
c.2208C>G (p.Ile736Met)
n.3759C>G
13g.51941097G>TCA483893933ATP7Bc.*1190C>A (n.*1190C>A)
c.*2284C>A (n.*2284C>A)
c.2919C>A (p.Ile973=)
c.3540C>A (p.Ile1180=)
c.3207C>A (p.Ile1069=)
c.3288C>A (p.Ile1096=)
c.3306C>A (p.Ile1102=)
n.3679C>A
n.3903C>A
c.2475C>A (p.Ile825=)
c.2250C>A (p.Ile750=)
c.3345C>A (p.Ile1115=)
c.1318C>A
c.*641C>A (n.*641C>A)
n.4284C>A
n.2885C>A
c.3396C>A (p.Ile1132=)
c.3444C>A (p.Ile1148=)
c.3504C>A (p.Ile1168=)
c.3054C>A (p.Ile1018=)
c.1356C>A (p.Ile452=)
c.1173C>A (p.Ile391=)
c.3405C>A (p.Ile1135=)
c.3357C>A (p.Ile1119=)
c.3126C>A (p.Ile1042=)
c.3027C>A (p.Ile1009=)
c.2208C>A (p.Ile736=)
n.3759C>A
13g.51941098A>CCA388025989ATP7Bc.*1189T>G (n.*1189T>G)
c.*2283T>G (n.*2283T>G)
c.2918T>G (p.Ile973Ser)
c.3539T>G (p.Ile1180Ser)
c.3206T>G (p.Ile1069Ser)
c.3287T>G (p.Ile1096Ser)
c.3305T>G (p.Ile1102Ser)
n.3678T>G
n.3902T>G
c.2474T>G (p.Ile825Ser)
c.2249T>G (p.Ile750Ser)
c.3344T>G (p.Ile1115Ser)
c.1317T>G
c.*640T>G (n.*640T>G)
n.4283T>G
n.2884T>G
c.3395T>G (p.Ile1132Ser)
c.3443T>G (p.Ile1148Ser)
c.3503T>G (p.Ile1168Ser)
c.3053T>G (p.Ile1018Ser)
c.1355T>G (p.Ile452Ser)
c.1172T>G (p.Ile391Ser)
c.3404T>G (p.Ile1135Ser)
c.3356T>G (p.Ile1119Ser)
c.3125T>G (p.Ile1042Ser)
c.3026T>G (p.Ile1009Ser)
c.2207T>G (p.Ile736Ser)
n.3758T>G
13g.51941098A>GCA388025990ATP7Bc.*1189T>C (n.*1189T>C)
c.*2283T>C (n.*2283T>C)
c.2918T>C (p.Ile973Thr)
c.3539T>C (p.Ile1180Thr)
c.3206T>C (p.Ile1069Thr)
c.3287T>C (p.Ile1096Thr)
c.3305T>C (p.Ile1102Thr)
n.3678T>C
n.3902T>C
c.2474T>C (p.Ile825Thr)
c.2249T>C (p.Ile750Thr)
c.3344T>C (p.Ile1115Thr)
c.1317T>C
c.*640T>C (n.*640T>C)
n.4283T>C
n.2884T>C
c.3395T>C (p.Ile1132Thr)
c.3443T>C (p.Ile1148Thr)
c.3503T>C (p.Ile1168Thr)
c.3053T>C (p.Ile1018Thr)
c.1355T>C (p.Ile452Thr)
c.1172T>C (p.Ile391Thr)
c.3404T>C (p.Ile1135Thr)
c.3356T>C (p.Ile1119Thr)
c.3125T>C (p.Ile1042Thr)
c.3026T>C (p.Ile1009Thr)
c.2207T>C (p.Ile736Thr)
n.3758T>C
13g.51941098A>TCA388025992ATP7Bc.*1189T>A (n.*1189T>A)
c.*2283T>A (n.*2283T>A)
c.2918T>A (p.Ile973Asn)
c.3539T>A (p.Ile1180Asn)
c.3206T>A (p.Ile1069Asn)
c.3287T>A (p.Ile1096Asn)
c.3305T>A (p.Ile1102Asn)
n.3678T>A
n.3902T>A
c.2474T>A (p.Ile825Asn)
c.2249T>A (p.Ile750Asn)
c.3344T>A (p.Ile1115Asn)
c.1317T>A
c.*640T>A (n.*640T>A)
n.4283T>A
n.2884T>A
c.3395T>A (p.Ile1132Asn)
c.3443T>A (p.Ile1148Asn)
c.3503T>A (p.Ile1168Asn)
c.3053T>A (p.Ile1018Asn)
c.1355T>A (p.Ile452Asn)
c.1172T>A (p.Ile391Asn)
c.3404T>A (p.Ile1135Asn)
c.3356T>A (p.Ile1119Asn)
c.3125T>A (p.Ile1042Asn)
c.3026T>A (p.Ile1009Asn)
c.2207T>A (p.Ile736Asn)
n.3758T>A
13g.51941099delCA2695218782ATP7Bc.*1188del (n.*1188del)
c.*2282del (n.*2282del)
c.2917del (p.Ile973SerfsTer12)
c.3538del (p.Ile1180SerfsTer12)
c.3205del (p.Ile1069SerfsTer12)
c.3286del (p.Ile1096SerfsTer12)
c.3304del (p.Ile1102SerfsTer12)
n.3677del
n.3901del
c.2473del (p.Ile825SerfsTer12)
c.2248del (p.Ile750SerfsTer12)
c.3343del (p.Ile1115SerfsTer12)
c.1316del
c.*639del (n.*639del)
n.4282del
n.2883del
c.3394del (p.Ile1132SerfsTer12)
c.3442del (p.Ile1148SerfsTer12)
c.3502del (p.Ile1168SerfsTer12)
c.3052del (p.Ile1018SerfsTer12)
c.1354del (p.Ile452SerfsTer12)
c.1171del (p.Ile391SerfsTer12)
c.3403del (p.Ile1135SerfsTer12)
c.3355del (p.Ile1119SerfsTer12)
c.3124del (p.Ile1042SerfsTer12)
c.3025del (p.Ile1009SerfsTer12)
c.2206del (p.Ile736SerfsTer12)
n.3757del
13g.51941099T>ACA388026003ATP7Bc.*1188A>T (n.*1188A>T)
c.*2282A>T (n.*2282A>T)
c.2917A>T (p.Ile973Phe)
c.3538A>T (p.Ile1180Phe)
c.3205A>T (p.Ile1069Phe)
c.3286A>T (p.Ile1096Phe)
c.3304A>T (p.Ile1102Phe)
n.3677A>T
n.3901A>T
c.2473A>T (p.Ile825Phe)
c.2248A>T (p.Ile750Phe)
c.3343A>T (p.Ile1115Phe)
c.1316A>T
c.*639A>T (n.*639A>T)
n.4282A>T
n.2883A>T
c.3394A>T (p.Ile1132Phe)
c.3442A>T (p.Ile1148Phe)
c.3502A>T (p.Ile1168Phe)
c.3052A>T (p.Ile1018Phe)
c.1354A>T (p.Ile452Phe)
c.1171A>T (p.Ile391Phe)
c.3403A>T (p.Ile1135Phe)
c.3355A>T (p.Ile1119Phe)
c.3124A>T (p.Ile1042Phe)
c.3025A>T (p.Ile1009Phe)
c.2206A>T (p.Ile736Phe)
n.3757A>T
 dbSNP gnomAD v2
13g.51941099T>CCA388025999ATP7Bc.*1188A>G (n.*1188A>G)
c.*2282A>G (n.*2282A>G)
c.2917A>G (p.Ile973Val)
c.3538A>G (p.Ile1180Val)
c.3205A>G (p.Ile1069Val)
c.3286A>G (p.Ile1096Val)
c.3304A>G (p.Ile1102Val)
n.3677A>G
n.3901A>G
c.2473A>G (p.Ile825Val)
c.2248A>G (p.Ile750Val)
c.3343A>G (p.Ile1115Val)
c.1316A>G
c.*639A>G (n.*639A>G)
n.4282A>G
n.2883A>G
c.3394A>G (p.Ile1132Val)
c.3442A>G (p.Ile1148Val)
c.3502A>G (p.Ile1168Val)
c.3052A>G (p.Ile1018Val)
c.1354A>G (p.Ile452Val)
c.1171A>G (p.Ile391Val)
c.3403A>G (p.Ile1135Val)
c.3355A>G (p.Ile1119Val)
c.3124A>G (p.Ile1042Val)
c.3025A>G (p.Ile1009Val)
c.2206A>G (p.Ile736Val)
n.3757A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51941099T>GCA388025995ATP7Bc.*1188A>C (n.*1188A>C)
c.*2282A>C (n.*2282A>C)
c.2917A>C (p.Ile973Leu)
c.3538A>C (p.Ile1180Leu)
c.3205A>C (p.Ile1069Leu)
c.3286A>C (p.Ile1096Leu)
c.3304A>C (p.Ile1102Leu)
n.3677A>C
n.3901A>C
c.2473A>C (p.Ile825Leu)
c.2248A>C (p.Ile750Leu)
c.3343A>C (p.Ile1115Leu)
c.1316A>C
c.*639A>C (n.*639A>C)
n.4282A>C
n.2883A>C
c.3394A>C (p.Ile1132Leu)
c.3442A>C (p.Ile1148Leu)
c.3502A>C (p.Ile1168Leu)
c.3052A>C (p.Ile1018Leu)
c.1354A>C (p.Ile452Leu)
c.1171A>C (p.Ile391Leu)
c.3403A>C (p.Ile1135Leu)
c.3355A>C (p.Ile1119Leu)
c.3124A>C (p.Ile1042Leu)
c.3025A>C (p.Ile1009Leu)
c.2206A>C (p.Ile736Leu)
n.3757A>C
13g.51941099T=CA2091559354ATP7Bc.*1188A= (n.*1188A=)
c.*2282A= (n.*2282A=)
c.2917A= (p.Ile973=)
c.3538A= (p.Ile1180=)
c.3205A= (p.Ile1069=)
c.3286A= (p.Ile1096=)
c.3304A= (p.Ile1102=)
n.3677A=
n.3901A=
c.2473A= (p.Ile825=)
c.2248A= (p.Ile750=)
c.3343A= (p.Ile1115=)
c.1316A=
c.*639A= (n.*639A=)
n.4282A=
n.2883A=
c.3394A= (p.Ile1132=)
c.3442A= (p.Ile1148=)
c.3502A= (p.Ile1168=)
c.3052A= (p.Ile1018=)
c.1354A= (p.Ile452=)
c.1171A= (p.Ile391=)
c.3403A= (p.Ile1135=)
c.3355A= (p.Ile1119=)
c.3124A= (p.Ile1042=)
c.3025A= (p.Ile1009=)
c.2206A= (p.Ile736=)
n.3757A=
13g.51941100G>ACA483893936ATP7Bc.*1187C>T (n.*1187C>T)
c.*2281C>T (n.*2281C>T)
c.2916C>T (p.Ala972=)
c.3537C>T (p.Ala1179=)
c.3204C>T (p.Ala1068=)
c.3285C>T (p.Ala1095=)
c.3303C>T (p.Ala1101=)
n.3676C>T
n.3900C>T
c.2472C>T (p.Ala824=)
c.2247C>T (p.Ala749=)
c.3342C>T (p.Ala1114=)
c.1315C>T
c.*638C>T (n.*638C>T)
n.4281C>T
n.2882C>T
c.3393C>T (p.Ala1131=)
c.3441C>T (p.Ala1147=)
c.3501C>T (p.Ala1167=)
c.3051C>T (p.Ala1017=)
c.1353C>T (p.Ala451=)
c.1170C>T (p.Ala390=)
c.3402C>T (p.Ala1134=)
c.3354C>T (p.Ala1118=)
c.3123C>T (p.Ala1041=)
c.3024C>T (p.Ala1008=)
c.2205C>T (p.Ala735=)
n.3756C>T
13g.51941100G>CCA483893935ATP7Bc.*1187C>G (n.*1187C>G)
c.*2281C>G (n.*2281C>G)
c.2916C>G (p.Ala972=)
c.3537C>G (p.Ala1179=)
c.3204C>G (p.Ala1068=)
c.3285C>G (p.Ala1095=)
c.3303C>G (p.Ala1101=)
n.3676C>G
n.3900C>G
c.2472C>G (p.Ala824=)
c.2247C>G (p.Ala749=)
c.3342C>G (p.Ala1114=)
c.1315C>G
c.*638C>G (n.*638C>G)
n.4281C>G
n.2882C>G
c.3393C>G (p.Ala1131=)
c.3441C>G (p.Ala1147=)
c.3501C>G (p.Ala1167=)
c.3051C>G (p.Ala1017=)
c.1353C>G (p.Ala451=)
c.1170C>G (p.Ala390=)
c.3402C>G (p.Ala1134=)
c.3354C>G (p.Ala1118=)
c.3123C>G (p.Ala1041=)
c.3024C>G (p.Ala1008=)
c.2205C>G (p.Ala735=)
n.3756C>G
13g.51941100G>TCA483893934ATP7Bc.*1187C>A (n.*1187C>A)
c.*2281C>A (n.*2281C>A)
c.2916C>A (p.Ala972=)
c.3537C>A (p.Ala1179=)
c.3204C>A (p.Ala1068=)
c.3285C>A (p.Ala1095=)
c.3303C>A (p.Ala1101=)
n.3676C>A
n.3900C>A
c.2472C>A (p.Ala824=)
c.2247C>A (p.Ala749=)
c.3342C>A (p.Ala1114=)
c.1315C>A
c.*638C>A (n.*638C>A)
n.4281C>A
n.2882C>A
c.3393C>A (p.Ala1131=)
c.3441C>A (p.Ala1147=)
c.3501C>A (p.Ala1167=)
c.3051C>A (p.Ala1017=)
c.1353C>A (p.Ala451=)
c.1170C>A (p.Ala390=)
c.3402C>A (p.Ala1134=)
c.3354C>A (p.Ala1118=)
c.3123C>A (p.Ala1041=)
c.3024C>A (p.Ala1008=)
c.2205C>A (p.Ala735=)
n.3756C>A
13g.51941101G>ACA388026008ATP7Bc.*1186C>T (n.*1186C>T)
c.*2280C>T (n.*2280C>T)
c.2915C>T (p.Ala972Val)
c.3536C>T (p.Ala1179Val)
c.3203C>T (p.Ala1068Val)
c.3284C>T (p.Ala1095Val)
c.3302C>T (p.Ala1101Val)
n.3675C>T
n.3899C>T
c.2471C>T (p.Ala824Val)
c.2246C>T (p.Ala749Val)
c.3341C>T (p.Ala1114Val)
c.1314C>T
c.*637C>T (n.*637C>T)
n.4280C>T
n.2881C>T
c.3392C>T (p.Ala1131Val)
c.3440C>T (p.Ala1147Val)
c.3500C>T (p.Ala1167Val)
c.3050C>T (p.Ala1017Val)
c.1352C>T (p.Ala451Val)
c.1169C>T (p.Ala390Val)
c.3401C>T (p.Ala1134Val)
c.3353C>T (p.Ala1118Val)
c.3122C>T (p.Ala1041Val)
c.3023C>T (p.Ala1008Val)
c.2204C>T (p.Ala735Val)
n.3755C>T
13g.51941101G>CCA388026009ATP7Bc.*1186C>G (n.*1186C>G)
c.*2280C>G (n.*2280C>G)
c.2915C>G (p.Ala972Gly)
c.3536C>G (p.Ala1179Gly)
c.3203C>G (p.Ala1068Gly)
c.3284C>G (p.Ala1095Gly)
c.3302C>G (p.Ala1101Gly)
n.3675C>G
n.3899C>G
c.2471C>G (p.Ala824Gly)
c.2246C>G (p.Ala749Gly)
c.3341C>G (p.Ala1114Gly)
c.1314C>G
c.*637C>G (n.*637C>G)
n.4280C>G
n.2881C>G
c.3392C>G (p.Ala1131Gly)
c.3440C>G (p.Ala1147Gly)
c.3500C>G (p.Ala1167Gly)
c.3050C>G (p.Ala1017Gly)
c.1352C>G (p.Ala451Gly)
c.1169C>G (p.Ala390Gly)
c.3401C>G (p.Ala1134Gly)
c.3353C>G (p.Ala1118Gly)
c.3122C>G (p.Ala1041Gly)
c.3023C>G (p.Ala1008Gly)
c.2204C>G (p.Ala735Gly)
n.3755C>G
13g.51941101G>TCA388026010ATP7Bc.*1186C>A (n.*1186C>A)
c.*2280C>A (n.*2280C>A)
c.2915C>A (p.Ala972Asp)
c.3536C>A (p.Ala1179Asp)
c.3203C>A (p.Ala1068Asp)
c.3284C>A (p.Ala1095Asp)
c.3302C>A (p.Ala1101Asp)
n.3675C>A
n.3899C>A
c.2471C>A (p.Ala824Asp)
c.2246C>A (p.Ala749Asp)
c.3341C>A (p.Ala1114Asp)
c.1314C>A
c.*637C>A (n.*637C>A)
n.4280C>A
n.2881C>A
c.3392C>A (p.Ala1131Asp)
c.3440C>A (p.Ala1147Asp)
c.3500C>A (p.Ala1167Asp)
c.3050C>A (p.Ala1017Asp)
c.1352C>A (p.Ala451Asp)
c.1169C>A (p.Ala390Asp)
c.3401C>A (p.Ala1134Asp)
c.3353C>A (p.Ala1118Asp)
c.3122C>A (p.Ala1041Asp)
c.3023C>A (p.Ala1008Asp)
c.2204C>A (p.Ala735Asp)
n.3755C>A
13g.51941102C>ACA388026011ATP7Bc.*1185G>T (n.*1185G>T)
c.*2279G>T (n.*2279G>T)
c.2914G>T (p.Ala972Ser)
c.3535G>T (p.Ala1179Ser)
c.3202G>T (p.Ala1068Ser)
c.3283G>T (p.Ala1095Ser)
c.3301G>T (p.Ala1101Ser)
n.3674G>T
n.3898G>T
c.2470G>T (p.Ala824Ser)
c.2245G>T (p.Ala749Ser)
c.3340G>T (p.Ala1114Ser)
c.1313G>T
c.*636G>T (n.*636G>T)
n.4279G>T
n.2880G>T
c.3391G>T (p.Ala1131Ser)
c.3439G>T (p.Ala1147Ser)
c.3499G>T (p.Ala1167Ser)
c.3049G>T (p.Ala1017Ser)
c.1351G>T (p.Ala451Ser)
c.1168G>T (p.Ala390Ser)
c.3400G>T (p.Ala1134Ser)
c.3352G>T (p.Ala1118Ser)
c.3121G>T (p.Ala1041Ser)
c.3022G>T (p.Ala1008Ser)
c.2203G>T (p.Ala735Ser)
n.3754G>T
 gnomAD v4
13g.51941102C>GCA388026012ATP7Bc.*1185G>C (n.*1185G>C)
c.*2279G>C (n.*2279G>C)
c.2914G>C (p.Ala972Pro)
c.3535G>C (p.Ala1179Pro)
c.3202G>C (p.Ala1068Pro)
c.3283G>C (p.Ala1095Pro)
c.3301G>C (p.Ala1101Pro)
n.3674G>C
n.3898G>C
c.2470G>C (p.Ala824Pro)
c.2245G>C (p.Ala749Pro)
c.3340G>C (p.Ala1114Pro)
c.1313G>C
c.*636G>C (n.*636G>C)
n.4279G>C
n.2880G>C
c.3391G>C (p.Ala1131Pro)
c.3439G>C (p.Ala1147Pro)
c.3499G>C (p.Ala1167Pro)
c.3049G>C (p.Ala1017Pro)
c.1351G>C (p.Ala451Pro)
c.1168G>C (p.Ala390Pro)
c.3400G>C (p.Ala1134Pro)
c.3352G>C (p.Ala1118Pro)
c.3121G>C (p.Ala1041Pro)
c.3022G>C (p.Ala1008Pro)
c.2203G>C (p.Ala735Pro)
n.3754G>C
13g.51941102C>TCA388026014ATP7Bc.*1185G>A (n.*1185G>A)
c.*2279G>A (n.*2279G>A)
c.2914G>A (p.Ala972Thr)
c.3535G>A (p.Ala1179Thr)
c.3202G>A (p.Ala1068Thr)
c.3283G>A (p.Ala1095Thr)
c.3301G>A (p.Ala1101Thr)
n.3674G>A
n.3898G>A
c.2470G>A (p.Ala824Thr)
c.2245G>A (p.Ala749Thr)
c.3340G>A (p.Ala1114Thr)
c.1313G>A
c.*636G>A (n.*636G>A)
n.4279G>A
n.2880G>A
c.3391G>A (p.Ala1131Thr)
c.3439G>A (p.Ala1147Thr)
c.3499G>A (p.Ala1167Thr)
c.3049G>A (p.Ala1017Thr)
c.1351G>A (p.Ala451Thr)
c.1168G>A (p.Ala390Thr)
c.3400G>A (p.Ala1134Thr)
c.3352G>A (p.Ala1118Thr)
c.3121G>A (p.Ala1041Thr)
c.3022G>A (p.Ala1008Thr)
c.2203G>A (p.Ala735Thr)
n.3754G>A
 gnomAD v4
13g.51941107_51941110delCA2623119748ATP7Bc.*1182_*1185del (n.*1182_*1185del)
c.*2276_*2279del (n.*2276_*2279del)
c.2911_2914del (p.Thr971ProfsTer13)
c.3532_3535del (p.Thr1178ProfsTer13)
c.3199_3202del (p.Thr1067ProfsTer13)
c.3280_3283del (p.Thr1094ProfsTer13)
c.3298_3301del (p.Thr1100ProfsTer13)
n.3671_3674del
n.3895_3898del
c.2467_2470del (p.Thr823ProfsTer13)
c.2242_2245del (p.Thr748ProfsTer13)
c.3337_3340del (p.Thr1113ProfsTer13)
c.1310_1313del
c.*633_*636del (n.*633_*636del)
n.4276_4279del
n.2877_2880del
c.3388_3391del (p.Thr1130ProfsTer13)
c.3436_3439del (p.Thr1146ProfsTer13)
c.3496_3499del (p.Thr1166ProfsTer13)
c.3046_3049del (p.Thr1016ProfsTer13)
c.1348_1351del (p.Thr450ProfsTer13)
c.1165_1168del (p.Thr389ProfsTer13)
c.3397_3400del (p.Thr1133ProfsTer13)
c.3349_3352del (p.Thr1117ProfsTer13)
c.3118_3121del (p.Thr1040ProfsTer13)
c.3019_3022del (p.Thr1007ProfsTer13)
c.2200_2203del (p.Thr734ProfsTer13)
n.3751_3754del
 gnomAD v4
13g.51941103T>ACA483893937ATP7Bc.*1184A>T (n.*1184A>T)
c.*2278A>T (n.*2278A>T)
c.2913A>T (p.Thr971=)
c.3534A>T (p.Thr1178=)
c.3201A>T (p.Thr1067=)
c.3282A>T (p.Thr1094=)
c.3300A>T (p.Thr1100=)
n.3673A>T
n.3897A>T
c.2469A>T (p.Thr823=)
c.2244A>T (p.Thr748=)
c.3339A>T (p.Thr1113=)
c.1312A>T
c.*635A>T (n.*635A>T)
n.4278A>T
n.2879A>T
c.3390A>T (p.Thr1130=)
c.3438A>T (p.Thr1146=)
c.3498A>T (p.Thr1166=)
c.3048A>T (p.Thr1016=)
c.1350A>T (p.Thr450=)
c.1167A>T (p.Thr389=)
c.3399A>T (p.Thr1133=)
c.3351A>T (p.Thr1117=)
c.3120A>T (p.Thr1040=)
c.3021A>T (p.Thr1007=)
c.2202A>T (p.Thr734=)
n.3753A>T
13g.51941103T>CCA483893938ATP7Bc.*1184A>G (n.*1184A>G)
c.*2278A>G (n.*2278A>G)
c.2913A>G (p.Thr971=)
c.3534A>G (p.Thr1178=)
c.3201A>G (p.Thr1067=)
c.3282A>G (p.Thr1094=)
c.3300A>G (p.Thr1100=)
n.3673A>G
n.3897A>G
c.2469A>G (p.Thr823=)
c.2244A>G (p.Thr748=)
c.3339A>G (p.Thr1113=)
c.1312A>G
c.*635A>G (n.*635A>G)
n.4278A>G
n.2879A>G
c.3390A>G (p.Thr1130=)
c.3438A>G (p.Thr1146=)
c.3498A>G (p.Thr1166=)
c.3048A>G (p.Thr1016=)
c.1350A>G (p.Thr450=)
c.1167A>G (p.Thr389=)
c.3399A>G (p.Thr1133=)
c.3351A>G (p.Thr1117=)
c.3120A>G (p.Thr1040=)
c.3021A>G (p.Thr1007=)
c.2202A>G (p.Thr734=)
n.3753A>G
 ClinVar gnomAD v4
13g.51941103T>GCA483893939ATP7Bc.*1184A>C (n.*1184A>C)
c.*2278A>C (n.*2278A>C)
c.2913A>C (p.Thr971=)
c.3534A>C (p.Thr1178=)
c.3201A>C (p.Thr1067=)
c.3282A>C (p.Thr1094=)
c.3300A>C (p.Thr1100=)
n.3673A>C
n.3897A>C
c.2469A>C (p.Thr823=)
c.2244A>C (p.Thr748=)
c.3339A>C (p.Thr1113=)
c.1312A>C
c.*635A>C (n.*635A>C)
n.4278A>C
n.2879A>C
c.3390A>C (p.Thr1130=)
c.3438A>C (p.Thr1146=)
c.3498A>C (p.Thr1166=)
c.3048A>C (p.Thr1016=)
c.1350A>C (p.Thr450=)
c.1167A>C (p.Thr389=)
c.3399A>C (p.Thr1133=)
c.3351A>C (p.Thr1117=)
c.3120A>C (p.Thr1040=)
c.3021A>C (p.Thr1007=)
c.2202A>C (p.Thr734=)
n.3753A>C
13g.51941104G>ACA388026018ATP7Bc.*1183C>T (n.*1183C>T)
c.*2277C>T (n.*2277C>T)
c.2912C>T (p.Thr971Ile)
c.3533C>T (p.Thr1178Ile)
c.3200C>T (p.Thr1067Ile)
c.3281C>T (p.Thr1094Ile)
c.3299C>T (p.Thr1100Ile)
n.3672C>T
n.3896C>T
c.2468C>T (p.Thr823Ile)
c.2243C>T (p.Thr748Ile)
c.3338C>T (p.Thr1113Ile)
c.1311C>T
c.*634C>T (n.*634C>T)
n.4277C>T
n.2878C>T
c.3389C>T (p.Thr1130Ile)
c.3437C>T (p.Thr1146Ile)
c.3497C>T (p.Thr1166Ile)
c.3047C>T (p.Thr1016Ile)
c.1349C>T (p.Thr450Ile)
c.1166C>T (p.Thr389Ile)
c.3398C>T (p.Thr1133Ile)
c.3350C>T (p.Thr1117Ile)
c.3119C>T (p.Thr1040Ile)
c.3020C>T (p.Thr1007Ile)
c.2201C>T (p.Thr734Ile)
n.3752C>T
 ClinVar dbSNP
13g.51941104G>CCA388026025ATP7Bc.*1183C>G (n.*1183C>G)
c.*2277C>G (n.*2277C>G)
c.2912C>G (p.Thr971Arg)
c.3533C>G (p.Thr1178Arg)
c.3200C>G (p.Thr1067Arg)
c.3281C>G (p.Thr1094Arg)
c.3299C>G (p.Thr1100Arg)
n.3672C>G
n.3896C>G
c.2468C>G (p.Thr823Arg)
c.2243C>G (p.Thr748Arg)
c.3338C>G (p.Thr1113Arg)
c.1311C>G
c.*634C>G (n.*634C>G)
n.4277C>G
n.2878C>G
c.3389C>G (p.Thr1130Arg)
c.3437C>G (p.Thr1146Arg)
c.3497C>G (p.Thr1166Arg)
c.3047C>G (p.Thr1016Arg)
c.1349C>G (p.Thr450Arg)
c.1166C>G (p.Thr389Arg)
c.3398C>G (p.Thr1133Arg)
c.3350C>G (p.Thr1117Arg)
c.3119C>G (p.Thr1040Arg)
c.3020C>G (p.Thr1007Arg)
c.2201C>G (p.Thr734Arg)
n.3752C>G
13g.51941104G=CA2091559357ATP7Bc.*1183C= (n.*1183C=)
c.*2277C= (n.*2277C=)
c.2912C= (p.Thr971=)
c.3533C= (p.Thr1178=)
c.3200C= (p.Thr1067=)
c.3281C= (p.Thr1094=)
c.3299C= (p.Thr1100=)
n.3672C=
n.3896C=
c.2468C= (p.Thr823=)
c.2243C= (p.Thr748=)
c.3338C= (p.Thr1113=)
c.1311C=
c.*634C= (n.*634C=)
n.4277C=
n.2878C=
c.3389C= (p.Thr1130=)
c.3437C= (p.Thr1146=)
c.3497C= (p.Thr1166=)
c.3047C= (p.Thr1016=)
c.1349C= (p.Thr450=)
c.1166C= (p.Thr389=)
c.3398C= (p.Thr1133=)
c.3350C= (p.Thr1117=)
c.3119C= (p.Thr1040=)
c.3020C= (p.Thr1007=)
c.2201C= (p.Thr734=)
n.3752C=
13g.51941104G>TCA388026021ATP7Bc.*1183C>A (n.*1183C>A)
c.*2277C>A (n.*2277C>A)
c.2912C>A (p.Thr971Lys)
c.3533C>A (p.Thr1178Lys)
c.3200C>A (p.Thr1067Lys)
c.3281C>A (p.Thr1094Lys)
c.3299C>A (p.Thr1100Lys)
n.3672C>A
n.3896C>A
c.2468C>A (p.Thr823Lys)
c.2243C>A (p.Thr748Lys)
c.3338C>A (p.Thr1113Lys)
c.1311C>A
c.*634C>A (n.*634C>A)
n.4277C>A
n.2878C>A
c.3389C>A (p.Thr1130Lys)
c.3437C>A (p.Thr1146Lys)
c.3497C>A (p.Thr1166Lys)
c.3047C>A (p.Thr1016Lys)
c.1349C>A (p.Thr450Lys)
c.1166C>A (p.Thr389Lys)
c.3398C>A (p.Thr1133Lys)
c.3350C>A (p.Thr1117Lys)
c.3119C>A (p.Thr1040Lys)
c.3020C>A (p.Thr1007Lys)
c.2201C>A (p.Thr734Lys)
n.3752C>A
13g.51941105T>ACA388026026ATP7Bc.*1182A>T (n.*1182A>T)
c.*2276A>T (n.*2276A>T)
c.2911A>T (p.Thr971Ser)
c.3532A>T (p.Thr1178Ser)
c.3199A>T (p.Thr1067Ser)
c.3280A>T (p.Thr1094Ser)
c.3298A>T (p.Thr1100Ser)
n.3671A>T
n.3895A>T
c.2467A>T (p.Thr823Ser)
c.2242A>T (p.Thr748Ser)
c.3337A>T (p.Thr1113Ser)
c.1310A>T
c.*633A>T (n.*633A>T)
n.4276A>T
n.2877A>T
c.3388A>T (p.Thr1130Ser)
c.3436A>T (p.Thr1146Ser)
c.3496A>T (p.Thr1166Ser)
c.3046A>T (p.Thr1016Ser)
c.1348A>T (p.Thr450Ser)
c.1165A>T (p.Thr389Ser)
c.3397A>T (p.Thr1133Ser)
c.3349A>T (p.Thr1117Ser)
c.3118A>T (p.Thr1040Ser)
c.3019A>T (p.Thr1007Ser)
c.2200A>T (p.Thr734Ser)
n.3751A>T
13g.51941105T>CCA388026028ATP7Bc.*1182A>G (n.*1182A>G)
c.*2276A>G (n.*2276A>G)
c.2911A>G (p.Thr971Ala)
c.3532A>G (p.Thr1178Ala)
c.3199A>G (p.Thr1067Ala)
c.3280A>G (p.Thr1094Ala)
c.3298A>G (p.Thr1100Ala)
n.3671A>G
n.3895A>G
c.2467A>G (p.Thr823Ala)
c.2242A>G (p.Thr748Ala)
c.3337A>G (p.Thr1113Ala)
c.1310A>G
c.*633A>G (n.*633A>G)
n.4276A>G
n.2877A>G
c.3388A>G (p.Thr1130Ala)
c.3436A>G (p.Thr1146Ala)
c.3496A>G (p.Thr1166Ala)
c.3046A>G (p.Thr1016Ala)
c.1348A>G (p.Thr450Ala)
c.1165A>G (p.Thr389Ala)
c.3397A>G (p.Thr1133Ala)
c.3349A>G (p.Thr1117Ala)
c.3118A>G (p.Thr1040Ala)
c.3019A>G (p.Thr1007Ala)
c.2200A>G (p.Thr734Ala)
n.3751A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941105T>GCA388026029ATP7Bc.*1182A>C (n.*1182A>C)
c.*2276A>C (n.*2276A>C)
c.2911A>C (p.Thr971Pro)
c.3532A>C (p.Thr1178Pro)
c.3199A>C (p.Thr1067Pro)
c.3280A>C (p.Thr1094Pro)
c.3298A>C (p.Thr1100Pro)
n.3671A>C
n.3895A>C
c.2467A>C (p.Thr823Pro)
c.2242A>C (p.Thr748Pro)
c.3337A>C (p.Thr1113Pro)
c.1310A>C
c.*633A>C (n.*633A>C)
n.4276A>C
n.2877A>C
c.3388A>C (p.Thr1130Pro)
c.3436A>C (p.Thr1146Pro)
c.3496A>C (p.Thr1166Pro)
c.3046A>C (p.Thr1016Pro)
c.1348A>C (p.Thr450Pro)
c.1165A>C (p.Thr389Pro)
c.3397A>C (p.Thr1133Pro)
c.3349A>C (p.Thr1117Pro)
c.3118A>C (p.Thr1040Pro)
c.3019A>C (p.Thr1007Pro)
c.2200A>C (p.Thr734Pro)
n.3751A>C
 ClinVar gnomAD v4
13g.51941105T=CA2091559361ATP7Bc.*1182A= (n.*1182A=)
c.*2276A= (n.*2276A=)
c.2911A= (p.Thr971=)
c.3532A= (p.Thr1178=)
c.3199A= (p.Thr1067=)
c.3280A= (p.Thr1094=)
c.3298A= (p.Thr1100=)
n.3671A=
n.3895A=
c.2467A= (p.Thr823=)
c.2242A= (p.Thr748=)
c.3337A= (p.Thr1113=)
c.1310A=
c.*633A= (n.*633A=)
n.4276A=
n.2877A=
c.3388A= (p.Thr1130=)
c.3436A= (p.Thr1146=)
c.3496A= (p.Thr1166=)
c.3046A= (p.Thr1016=)
c.1348A= (p.Thr450=)
c.1165A= (p.Thr389=)
c.3397A= (p.Thr1133=)
c.3349A= (p.Thr1117=)
c.3118A= (p.Thr1040=)
c.3019A= (p.Thr1007=)
c.2200A= (p.Thr734=)
n.3751A=
13g.51941106C>ACA388026030ATP7Bc.*1181G>T (n.*1181G>T)
c.*2275G>T (n.*2275G>T)
c.2910G>T (p.Gln970His)
c.3531G>T (p.Gln1177His)
c.3198G>T (p.Gln1066His)
c.3279G>T (p.Gln1093His)
c.3297G>T (p.Gln1099His)
n.3670G>T
n.3894G>T
c.2466G>T (p.Gln822His)
c.2241G>T (p.Gln747His)
c.3336G>T (p.Gln1112His)
c.1309G>T
c.*632G>T (n.*632G>T)
n.4275G>T
n.2876G>T
c.3387G>T (p.Gln1129His)
c.3435G>T (p.Gln1145His)
c.3495G>T (p.Gln1165His)
c.3045G>T (p.Gln1015His)
c.1347G>T (p.Gln449His)
c.1164G>T (p.Gln388His)
c.3396G>T (p.Gln1132His)
c.3348G>T (p.Gln1116His)
c.3117G>T (p.Gln1039His)
c.3018G>T (p.Gln1006His)
c.2199G>T (p.Gln733His)
n.3750G>T
13g.51941106C>GCA388026033ATP7Bc.*1181G>C (n.*1181G>C)
c.*2275G>C (n.*2275G>C)
c.2910G>C (p.Gln970His)
c.3531G>C (p.Gln1177His)
c.3198G>C (p.Gln1066His)
c.3279G>C (p.Gln1093His)
c.3297G>C (p.Gln1099His)
n.3670G>C
n.3894G>C
c.2466G>C (p.Gln822His)
c.2241G>C (p.Gln747His)
c.3336G>C (p.Gln1112His)
c.1309G>C
c.*632G>C (n.*632G>C)
n.4275G>C
n.2876G>C
c.3387G>C (p.Gln1129His)
c.3435G>C (p.Gln1145His)
c.3495G>C (p.Gln1165His)
c.3045G>C (p.Gln1015His)
c.1347G>C (p.Gln449His)
c.1164G>C (p.Gln388His)
c.3396G>C (p.Gln1132His)
c.3348G>C (p.Gln1116His)
c.3117G>C (p.Gln1039His)
c.3018G>C (p.Gln1006His)
c.2199G>C (p.Gln733His)
n.3750G>C
 gnomAD v4
13g.51941106C>TCA483893940ATP7Bc.*1181G>A (n.*1181G>A)
c.*2275G>A (n.*2275G>A)
c.2910G>A (p.Gln970=)
c.3531G>A (p.Gln1177=)
c.3198G>A (p.Gln1066=)
c.3279G>A (p.Gln1093=)
c.3297G>A (p.Gln1099=)
n.3670G>A
n.3894G>A
c.2466G>A (p.Gln822=)
c.2241G>A (p.Gln747=)
c.3336G>A (p.Gln1112=)
c.1309G>A
c.*632G>A (n.*632G>A)
n.4275G>A
n.2876G>A
c.3387G>A (p.Gln1129=)
c.3435G>A (p.Gln1145=)
c.3495G>A (p.Gln1165=)
c.3045G>A (p.Gln1015=)
c.1347G>A (p.Gln449=)
c.1164G>A (p.Gln388=)
c.3396G>A (p.Gln1132=)
c.3348G>A (p.Gln1116=)
c.3117G>A (p.Gln1039=)
c.3018G>A (p.Gln1006=)
c.2199G>A (p.Gln733=)
n.3750G>A
13g.51941107T>ACA388026047ATP7Bc.*1180A>T (n.*1180A>T)
c.*2274A>T (n.*2274A>T)
c.2909A>T (p.Gln970Leu)
c.3530A>T (p.Gln1177Leu)
c.3197A>T (p.Gln1066Leu)
c.3278A>T (p.Gln1093Leu)
c.3296A>T (p.Gln1099Leu)
n.3669A>T
n.3893A>T
c.2465A>T (p.Gln822Leu)
c.2240A>T (p.Gln747Leu)
c.3335A>T (p.Gln1112Leu)
c.1308A>T
c.*631A>T (n.*631A>T)
n.4274A>T
n.2875A>T
c.3386A>T (p.Gln1129Leu)
c.3434A>T (p.Gln1145Leu)
c.3494A>T (p.Gln1165Leu)
c.3044A>T (p.Gln1015Leu)
c.1346A>T (p.Gln449Leu)
c.1163A>T (p.Gln388Leu)
c.3395A>T (p.Gln1132Leu)
c.3347A>T (p.Gln1116Leu)
c.3116A>T (p.Gln1039Leu)
c.3017A>T (p.Gln1006Leu)
c.2198A>T (p.Gln733Leu)
n.3749A>T
13g.51941107T>CCA388026050ATP7Bc.*1180A>G (n.*1180A>G)
c.*2274A>G (n.*2274A>G)
c.2909A>G (p.Gln970Arg)
c.3530A>G (p.Gln1177Arg)
c.3197A>G (p.Gln1066Arg)
c.3278A>G (p.Gln1093Arg)
c.3296A>G (p.Gln1099Arg)
n.3669A>G
n.3893A>G
c.2465A>G (p.Gln822Arg)
c.2240A>G (p.Gln747Arg)
c.3335A>G (p.Gln1112Arg)
c.1308A>G
c.*631A>G (n.*631A>G)
n.4274A>G
n.2875A>G
c.3386A>G (p.Gln1129Arg)
c.3434A>G (p.Gln1145Arg)
c.3494A>G (p.Gln1165Arg)
c.3044A>G (p.Gln1015Arg)
c.1346A>G (p.Gln449Arg)
c.1163A>G (p.Gln388Arg)
c.3395A>G (p.Gln1132Arg)
c.3347A>G (p.Gln1116Arg)
c.3116A>G (p.Gln1039Arg)
c.3017A>G (p.Gln1006Arg)
c.2198A>G (p.Gln733Arg)
n.3749A>G
13g.51941107T>GCA388026052ATP7Bc.*1180A>C (n.*1180A>C)
c.*2274A>C (n.*2274A>C)
c.2909A>C (p.Gln970Pro)
c.3530A>C (p.Gln1177Pro)
c.3197A>C (p.Gln1066Pro)
c.3278A>C (p.Gln1093Pro)
c.3296A>C (p.Gln1099Pro)
n.3669A>C
n.3893A>C
c.2465A>C (p.Gln822Pro)
c.2240A>C (p.Gln747Pro)
c.3335A>C (p.Gln1112Pro)
c.1308A>C
c.*631A>C (n.*631A>C)
n.4274A>C
n.2875A>C
c.3386A>C (p.Gln1129Pro)
c.3434A>C (p.Gln1145Pro)
c.3494A>C (p.Gln1165Pro)
c.3044A>C (p.Gln1015Pro)
c.1346A>C (p.Gln449Pro)
c.1163A>C (p.Gln388Pro)
c.3395A>C (p.Gln1132Pro)
c.3347A>C (p.Gln1116Pro)
c.3116A>C (p.Gln1039Pro)
c.3017A>C (p.Gln1006Pro)
c.2198A>C (p.Gln733Pro)
n.3749A>C
13g.51941108G>ACA16041665ATP7Bc.*1179C>T (n.*1179C>T)
c.*2273C>T (n.*2273C>T)
c.2908C>T (p.Gln970Ter)
c.3529C>T (p.Gln1177Ter)
c.3196C>T (p.Gln1066Ter)
c.3277C>T (p.Gln1093Ter)
c.3295C>T (p.Gln1099Ter)
n.3668C>T
n.3892C>T
c.2464C>T (p.Gln822Ter)
c.2239C>T (p.Gln747Ter)
c.3334C>T (p.Gln1112Ter)
c.1307C>T
c.*630C>T (n.*630C>T)
n.4273C>T
n.2874C>T
c.3385C>T (p.Gln1129Ter)
c.3433C>T (p.Gln1145Ter)
c.3493C>T (p.Gln1165Ter)
c.3043C>T (p.Gln1015Ter)
c.1345C>T (p.Gln449Ter)
c.1162C>T (p.Gln388Ter)
c.3394C>T (p.Gln1132Ter)
c.3346C>T (p.Gln1116Ter)
c.3115C>T (p.Gln1039Ter)
c.3016C>T (p.Gln1006Ter)
c.2197C>T (p.Gln733Ter)
n.3748C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51941108G>CCA388026054ATP7Bc.*1179C>G (n.*1179C>G)
c.*2273C>G (n.*2273C>G)
c.2908C>G (p.Gln970Glu)
c.3529C>G (p.Gln1177Glu)
c.3196C>G (p.Gln1066Glu)
c.3277C>G (p.Gln1093Glu)
c.3295C>G (p.Gln1099Glu)
n.3668C>G
n.3892C>G
c.2464C>G (p.Gln822Glu)
c.2239C>G (p.Gln747Glu)
c.3334C>G (p.Gln1112Glu)
c.1307C>G
c.*630C>G (n.*630C>G)
n.4273C>G
n.2874C>G
c.3385C>G (p.Gln1129Glu)
c.3433C>G (p.Gln1145Glu)
c.3493C>G (p.Gln1165Glu)
c.3043C>G (p.Gln1015Glu)
c.1345C>G (p.Gln449Glu)
c.1162C>G (p.Gln388Glu)
c.3394C>G (p.Gln1132Glu)
c.3346C>G (p.Gln1116Glu)
c.3115C>G (p.Gln1039Glu)
c.3016C>G (p.Gln1006Glu)
c.2197C>G (p.Gln733Glu)
n.3748C>G
13g.51941108G=CA2091559369ATP7Bc.*1179C= (n.*1179C=)
c.*2273C= (n.*2273C=)
c.2908C= (p.Gln970=)
c.3529C= (p.Gln1177=)
c.3196C= (p.Gln1066=)
c.3277C= (p.Gln1093=)
c.3295C= (p.Gln1099=)
n.3668C=
n.3892C=
c.2464C= (p.Gln822=)
c.2239C= (p.Gln747=)
c.3334C= (p.Gln1112=)
c.1307C=
c.*630C= (n.*630C=)
n.4273C=
n.2874C=
c.3385C= (p.Gln1129=)
c.3433C= (p.Gln1145=)
c.3493C= (p.Gln1165=)
c.3043C= (p.Gln1015=)
c.1345C= (p.Gln449=)
c.1162C= (p.Gln388=)
c.3394C= (p.Gln1132=)
c.3346C= (p.Gln1116=)
c.3115C= (p.Gln1039=)
c.3016C= (p.Gln1006=)
c.2197C= (p.Gln733=)
n.3748C=
13g.51941108G>TCA388026057ATP7Bc.*1179C>A (n.*1179C>A)
c.*2273C>A (n.*2273C>A)
c.2908C>A (p.Gln970Lys)
c.3529C>A (p.Gln1177Lys)
c.3196C>A (p.Gln1066Lys)
c.3277C>A (p.Gln1093Lys)
c.3295C>A (p.Gln1099Lys)
n.3668C>A
n.3892C>A
c.2464C>A (p.Gln822Lys)
c.2239C>A (p.Gln747Lys)
c.3334C>A (p.Gln1112Lys)
c.1307C>A
c.*630C>A (n.*630C>A)
n.4273C>A
n.2874C>A
c.3385C>A (p.Gln1129Lys)
c.3433C>A (p.Gln1145Lys)
c.3493C>A (p.Gln1165Lys)
c.3043C>A (p.Gln1015Lys)
c.1345C>A (p.Gln449Lys)
c.1162C>A (p.Gln388Lys)
c.3394C>A (p.Gln1132Lys)
c.3346C>A (p.Gln1116Lys)
c.3115C>A (p.Gln1039Lys)
c.3016C>A (p.Gln1006Lys)
c.2197C>A (p.Gln733Lys)
n.3748C>A
13g.51941109T>ACA483893941ATP7Bc.*1178A>T (n.*1178A>T)
c.*2272A>T (n.*2272A>T)
c.2907A>T (p.Gly969=)
c.3528A>T (p.Gly1176=)
c.3195A>T (p.Gly1065=)
c.3276A>T (p.Gly1092=)
c.3294A>T (p.Gly1098=)
n.3667A>T
n.3891A>T
c.2463A>T (p.Gly821=)
c.2238A>T (p.Gly746=)
c.3333A>T (p.Gly1111=)
c.1306A>T
c.*629A>T (n.*629A>T)
n.4272A>T
n.2873A>T
c.3384A>T (p.Gly1128=)
c.3432A>T (p.Gly1144=)
c.3492A>T (p.Gly1164=)
c.3042A>T (p.Gly1014=)
c.1344A>T (p.Gly448=)
c.1161A>T (p.Gly387=)
c.3393A>T (p.Gly1131=)
c.3345A>T (p.Gly1115=)
c.3114A>T (p.Gly1038=)
c.3015A>T (p.Gly1005=)
c.2196A>T (p.Gly732=)
n.3747A>T
13g.51941109T>CCA483893942ATP7Bc.*1178A>G (n.*1178A>G)
c.*2272A>G (n.*2272A>G)
c.2907A>G (p.Gly969=)
c.3528A>G (p.Gly1176=)
c.3195A>G (p.Gly1065=)
c.3276A>G (p.Gly1092=)
c.3294A>G (p.Gly1098=)
n.3667A>G
n.3891A>G
c.2463A>G (p.Gly821=)
c.2238A>G (p.Gly746=)
c.3333A>G (p.Gly1111=)
c.1306A>G
c.*629A>G (n.*629A>G)
n.4272A>G
n.2873A>G
c.3384A>G (p.Gly1128=)
c.3432A>G (p.Gly1144=)
c.3492A>G (p.Gly1164=)
c.3042A>G (p.Gly1014=)
c.1344A>G (p.Gly448=)
c.1161A>G (p.Gly387=)
c.3393A>G (p.Gly1131=)
c.3345A>G (p.Gly1115=)
c.3114A>G (p.Gly1038=)
c.3015A>G (p.Gly1005=)
c.2196A>G (p.Gly732=)
n.3747A>G
13g.51941109T>GCA483893943ATP7Bc.*1178A>C (n.*1178A>C)
c.*2272A>C (n.*2272A>C)
c.2907A>C (p.Gly969=)
c.3528A>C (p.Gly1176=)
c.3195A>C (p.Gly1065=)
c.3276A>C (p.Gly1092=)
c.3294A>C (p.Gly1098=)
n.3667A>C
n.3891A>C
c.2463A>C (p.Gly821=)
c.2238A>C (p.Gly746=)
c.3333A>C (p.Gly1111=)
c.1306A>C
c.*629A>C (n.*629A>C)
n.4272A>C
n.2873A>C
c.3384A>C (p.Gly1128=)
c.3432A>C (p.Gly1144=)
c.3492A>C (p.Gly1164=)
c.3042A>C (p.Gly1014=)
c.1344A>C (p.Gly448=)
c.1161A>C (p.Gly387=)
c.3393A>C (p.Gly1131=)
c.3345A>C (p.Gly1115=)
c.3114A>C (p.Gly1038=)
c.3015A>C (p.Gly1005=)
c.2196A>C (p.Gly732=)
n.3747A>C
13g.51941111_51941115delCA2695199762ATP7Bc.*1174_*1178del (n.*1174_*1178del)
c.*2268_*2272del (n.*2268_*2272del)
c.2903_2907del (p.Lys968ThrfsTer9)
c.3524_3528del (p.Lys1175ThrfsTer9)
c.3191_3195del (p.Lys1064ThrfsTer9)
c.3272_3276del (p.Lys1091ThrfsTer9)
c.3290_3294del (p.Lys1097ThrfsTer9)
n.3663_3667del
n.3887_3891del
c.2459_2463del (p.Lys820ThrfsTer9)
c.2234_2238del (p.Lys745ThrfsTer9)
c.3329_3333del (p.Lys1110ThrfsTer9)
c.1302_1306del
c.*625_*629del (n.*625_*629del)
n.4268_4272del
n.2869_2873del
c.3380_3384del (p.Lys1127ThrfsTer9)
c.3428_3432del (p.Lys1143ThrfsTer9)
c.3488_3492del (p.Lys1163ThrfsTer9)
c.3038_3042del (p.Lys1013ThrfsTer9)
c.1340_1344del (p.Lys447ThrfsTer9)
c.1157_1161del (p.Lys386ThrfsTer9)
c.3389_3393del (p.Lys1130ThrfsTer9)
c.3341_3345del (p.Lys1114ThrfsTer9)
c.3110_3114del (p.Lys1037ThrfsTer9)
c.3011_3015del (p.Lys1004ThrfsTer9)
c.2192_2196del (p.Lys731ThrfsTer9)
n.3743_3747del
 ClinVar
13g.51941110C>ACA388026069ATP7Bc.*1177G>T (n.*1177G>T)
c.*2271G>T (n.*2271G>T)
c.2906G>T (p.Gly969Val)
c.3527G>T (p.Gly1176Val)
c.3194G>T (p.Gly1065Val)
c.3275G>T (p.Gly1092Val)
c.3293G>T (p.Gly1098Val)
n.3666G>T
n.3890G>T
c.2462G>T (p.Gly821Val)
c.2237G>T (p.Gly746Val)
c.3332G>T (p.Gly1111Val)
c.1305G>T
c.*628G>T (n.*628G>T)
n.4271G>T
n.2872G>T
c.3383G>T (p.Gly1128Val)
c.3431G>T (p.Gly1144Val)
c.3491G>T (p.Gly1164Val)
c.3041G>T (p.Gly1014Val)
c.1343G>T (p.Gly448Val)
c.1160G>T (p.Gly387Val)
c.3392G>T (p.Gly1131Val)
c.3344G>T (p.Gly1115Val)
c.3113G>T (p.Gly1038Val)
c.3014G>T (p.Gly1005Val)
c.2195G>T (p.Gly732Val)
n.3746G>T
13g.51941110C=CA2091559371ATP7Bc.*1177G= (n.*1177G=)
c.*2271G= (n.*2271G=)
c.2906G= (p.Gly969=)
c.3527G= (p.Gly1176=)
c.3194G= (p.Gly1065=)
c.3275G= (p.Gly1092=)
c.3293G= (p.Gly1098=)
n.3666G=
n.3890G=
c.2462G= (p.Gly821=)
c.2237G= (p.Gly746=)
c.3332G= (p.Gly1111=)
c.1305G=
c.*628G= (n.*628G=)
n.4271G=
n.2872G=
c.3383G= (p.Gly1128=)
c.3431G= (p.Gly1144=)
c.3491G= (p.Gly1164=)
c.3041G= (p.Gly1014=)
c.1343G= (p.Gly448=)
c.1160G= (p.Gly387=)
c.3392G= (p.Gly1131=)
c.3344G= (p.Gly1115=)
c.3113G= (p.Gly1038=)
c.3014G= (p.Gly1005=)
c.2195G= (p.Gly732=)
n.3746G=
13g.51941110C>GCA388026063ATP7Bc.*1177G>C (n.*1177G>C)
c.*2271G>C (n.*2271G>C)
c.2906G>C (p.Gly969Ala)
c.3527G>C (p.Gly1176Ala)
c.3194G>C (p.Gly1065Ala)
c.3275G>C (p.Gly1092Ala)
c.3293G>C (p.Gly1098Ala)
n.3666G>C
n.3890G>C
c.2462G>C (p.Gly821Ala)
c.2237G>C (p.Gly746Ala)
c.3332G>C (p.Gly1111Ala)
c.1305G>C
c.*628G>C (n.*628G>C)
n.4271G>C
n.2872G>C
c.3383G>C (p.Gly1128Ala)
c.3431G>C (p.Gly1144Ala)
c.3491G>C (p.Gly1164Ala)
c.3041G>C (p.Gly1014Ala)
c.1343G>C (p.Gly448Ala)
c.1160G>C (p.Gly387Ala)
c.3392G>C (p.Gly1131Ala)
c.3344G>C (p.Gly1115Ala)
c.3113G>C (p.Gly1038Ala)
c.3014G>C (p.Gly1005Ala)
c.2195G>C (p.Gly732Ala)
n.3746G>C
13g.51941110C>TCA388026065ATP7Bc.*1177G>A (n.*1177G>A)
c.*2271G>A (n.*2271G>A)
c.2906G>A (p.Gly969Glu)
c.3527G>A (p.Gly1176Glu)
c.3194G>A (p.Gly1065Glu)
c.3275G>A (p.Gly1092Glu)
c.3293G>A (p.Gly1098Glu)
n.3666G>A
n.3890G>A
c.2462G>A (p.Gly821Glu)
c.2237G>A (p.Gly746Glu)
c.3332G>A (p.Gly1111Glu)
c.1305G>A
c.*628G>A (n.*628G>A)
n.4271G>A
n.2872G>A
c.3383G>A (p.Gly1128Glu)
c.3431G>A (p.Gly1144Glu)
c.3491G>A (p.Gly1164Glu)
c.3041G>A (p.Gly1014Glu)
c.1343G>A (p.Gly448Glu)
c.1160G>A (p.Gly387Glu)
c.3392G>A (p.Gly1131Glu)
c.3344G>A (p.Gly1115Glu)
c.3113G>A (p.Gly1038Glu)
c.3014G>A (p.Gly1005Glu)
c.2195G>A (p.Gly732Glu)
n.3746G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51941111C>ACA270738ATP7Bc.*1176G>T (n.*1176G>T)
c.*2270G>T (n.*2270G>T)
c.2905G>T (p.Gly969Ter)
c.3526G>T (p.Gly1176Ter)
c.3193G>T (p.Gly1065Ter)
c.3274G>T (p.Gly1092Ter)
c.3292G>T (p.Gly1098Ter)
n.3665G>T
n.3889G>T
c.2461G>T (p.Gly821Ter)
c.2236G>T (p.Gly746Ter)
c.3331G>T (p.Gly1111Ter)
c.1304G>T
c.*627G>T (n.*627G>T)
n.4270G>T
n.2871G>T
c.3382G>T (p.Gly1128Ter)
c.3430G>T (p.Gly1144Ter)
c.3490G>T (p.Gly1164Ter)
c.3040G>T (p.Gly1014Ter)
c.1342G>T (p.Gly448Ter)
c.1159G>T (p.Gly387Ter)
c.3391G>T (p.Gly1131Ter)
c.3343G>T (p.Gly1115Ter)
c.3112G>T (p.Gly1038Ter)
c.3013G>T (p.Gly1005Ter)
c.2194G>T (p.Gly732Ter)
n.3745G>T
 dbSNP
13g.51941111C=CA2091559378ATP7Bc.*1176G= (n.*1176G=)
c.*2270G= (n.*2270G=)
c.2905G= (p.Gly969=)
c.3526G= (p.Gly1176=)
c.3193G= (p.Gly1065=)
c.3274G= (p.Gly1092=)
c.3292G= (p.Gly1098=)
n.3665G=
n.3889G=
c.2461G= (p.Gly821=)
c.2236G= (p.Gly746=)
c.3331G= (p.Gly1111=)
c.1304G=
c.*627G= (n.*627G=)
n.4270G=
n.2871G=
c.3382G= (p.Gly1128=)
c.3430G= (p.Gly1144=)
c.3490G= (p.Gly1164=)
c.3040G= (p.Gly1014=)
c.1342G= (p.Gly448=)
c.1159G= (p.Gly387=)
c.3391G= (p.Gly1131=)
c.3343G= (p.Gly1115=)
c.3112G= (p.Gly1038=)
c.3013G= (p.Gly1005=)
c.2194G= (p.Gly732=)
n.3745G=
13g.51941111C>GCA388026079ATP7Bc.*1176G>C (n.*1176G>C)
c.*2270G>C (n.*2270G>C)
c.2905G>C (p.Gly969Arg)
c.3526G>C (p.Gly1176Arg)
c.3193G>C (p.Gly1065Arg)
c.3274G>C (p.Gly1092Arg)
c.3292G>C (p.Gly1098Arg)
n.3665G>C
n.3889G>C
c.2461G>C (p.Gly821Arg)
c.2236G>C (p.Gly746Arg)
c.3331G>C (p.Gly1111Arg)
c.1304G>C
c.*627G>C (n.*627G>C)
n.4270G>C
n.2871G>C
c.3382G>C (p.Gly1128Arg)
c.3430G>C (p.Gly1144Arg)
c.3490G>C (p.Gly1164Arg)
c.3040G>C (p.Gly1014Arg)
c.1342G>C (p.Gly448Arg)
c.1159G>C (p.Gly387Arg)
c.3391G>C (p.Gly1131Arg)
c.3343G>C (p.Gly1115Arg)
c.3112G>C (p.Gly1038Arg)
c.3013G>C (p.Gly1005Arg)
c.2194G>C (p.Gly732Arg)
n.3745G>C
13g.51941111C>TCA351338ATP7Bc.*1176G>A (n.*1176G>A)
c.*2270G>A (n.*2270G>A)
c.2905G>A (p.Gly969Arg)
c.3526G>A (p.Gly1176Arg)
c.3193G>A (p.Gly1065Arg)
c.3274G>A (p.Gly1092Arg)
c.3292G>A (p.Gly1098Arg)
n.3665G>A
n.3889G>A
c.2461G>A (p.Gly821Arg)
c.2236G>A (p.Gly746Arg)
c.3331G>A (p.Gly1111Arg)
c.1304G>A
c.*627G>A (n.*627G>A)
n.4270G>A
n.2871G>A
c.3382G>A (p.Gly1128Arg)
c.3430G>A (p.Gly1144Arg)
c.3490G>A (p.Gly1164Arg)
c.3040G>A (p.Gly1014Arg)
c.1342G>A (p.Gly448Arg)
c.1159G>A (p.Gly387Arg)
c.3391G>A (p.Gly1131Arg)
c.3343G>A (p.Gly1115Arg)
c.3112G>A (p.Gly1038Arg)
c.3013G>A (p.Gly1005Arg)
c.2194G>A (p.Gly732Arg)
n.3745G>A
 ClinVar dbSNP
13g.[51941111C>T;51941194A>G]CA351339ATP7Bc.[*1093T>C;*1176G>A] (n.[*1093T>C;*1176G>A])
c.[*2187T>C;*2270G>A] (n.[*2187T>C;*2270G>A])
c.[2822T>C;2905G>A] (p.[Ile941Thr;Gly969Arg])
c.[3443T>C;3526G>A] (p.[Ile1148Thr;Gly1176Arg])
c.[3110T>C;3193G>A] (p.[Ile1037Thr;Gly1065Arg])
c.[3191T>C;3274G>A] (p.[Ile1064Thr;Gly1092Arg])
c.[3209T>C;3292G>A] (p.[Ile1070Thr;Gly1098Arg])
n.[3582T>C;3665G>A]
n.[3806T>C;3889G>A]
c.[2378T>C;2461G>A] (p.[Ile793Thr;Gly821Arg])
c.[2153T>C;2236G>A] (p.[Ile718Thr;Gly746Arg])
c.[3248T>C;3331G>A] (p.[Ile1083Thr;Gly1111Arg])
c.[1221T>C;1304G>A]
c.[*544T>C;*627G>A] (n.[*544T>C;*627G>A])
n.[4187T>C;4270G>A]
n.[2788T>C;2871G>A]
c.[3299T>C;3382G>A] (p.[Ile1100Thr;Gly1128Arg])
c.[3347T>C;3430G>A] (p.[Ile1116Thr;Gly1144Arg])
c.[3407T>C;3490G>A] (p.[Ile1136Thr;Gly1164Arg])
c.[2957T>C;3040G>A] (p.[Ile986Thr;Gly1014Arg])
c.[1259T>C;1342G>A] (p.[Ile420Thr;Gly448Arg])
c.[1076T>C;1159G>A] (p.[Ile359Thr;Gly387Arg])
c.[3308T>C;3391G>A] (p.[Ile1103Thr;Gly1131Arg])
c.[3260T>C;3343G>A] (p.[Ile1087Thr;Gly1115Arg])
c.[3029T>C;3112G>A] (p.[Ile1010Thr;Gly1038Arg])
c.[2930T>C;3013G>A] (p.[Ile977Thr;Gly1005Arg])
c.[2111T>C;2194G>A] (p.[Ile704Thr;Gly732Arg])
n.[3662T>C;3745G>A]
13g.51941112T>ACA388026086ATP7Bc.*1175A>T (n.*1175A>T)
c.*2269A>T (n.*2269A>T)
c.2904A>T (p.Lys968Asn)
c.3525A>T (p.Lys1175Asn)
c.3192A>T (p.Lys1064Asn)
c.3273A>T (p.Lys1091Asn)
c.3291A>T (p.Lys1097Asn)
n.3664A>T
n.3888A>T
c.2460A>T (p.Lys820Asn)
c.2235A>T (p.Lys745Asn)
c.3330A>T (p.Lys1110Asn)
c.1303A>T
c.*626A>T (n.*626A>T)
n.4269A>T
n.2870A>T
c.3381A>T (p.Lys1127Asn)
c.3429A>T (p.Lys1143Asn)
c.3489A>T (p.Lys1163Asn)
c.3039A>T (p.Lys1013Asn)
c.1341A>T (p.Lys447Asn)
c.1158A>T (p.Lys386Asn)
c.3390A>T (p.Lys1130Asn)
c.3342A>T (p.Lys1114Asn)
c.3111A>T (p.Lys1037Asn)
c.3012A>T (p.Lys1004Asn)
c.2193A>T (p.Lys731Asn)
n.3744A>T
13g.51941112T>CCA483893944ATP7Bc.*1175A>G (n.*1175A>G)
c.*2269A>G (n.*2269A>G)
c.2904A>G (p.Lys968=)
c.3525A>G (p.Lys1175=)
c.3192A>G (p.Lys1064=)
c.3273A>G (p.Lys1091=)
c.3291A>G (p.Lys1097=)
n.3664A>G
n.3888A>G
c.2460A>G (p.Lys820=)
c.2235A>G (p.Lys745=)
c.3330A>G (p.Lys1110=)
c.1303A>G
c.*626A>G (n.*626A>G)
n.4269A>G
n.2870A>G
c.3381A>G (p.Lys1127=)
c.3429A>G (p.Lys1143=)
c.3489A>G (p.Lys1163=)
c.3039A>G (p.Lys1013=)
c.1341A>G (p.Lys447=)
c.1158A>G (p.Lys386=)
c.3390A>G (p.Lys1130=)
c.3342A>G (p.Lys1114=)
c.3111A>G (p.Lys1037=)
c.3012A>G (p.Lys1004=)
c.2193A>G (p.Lys731=)
n.3744A>G
 dbSNP
13g.51941112T>GCA388026089ATP7Bc.*1175A>C (n.*1175A>C)
c.*2269A>C (n.*2269A>C)
c.2904A>C (p.Lys968Asn)
c.3525A>C (p.Lys1175Asn)
c.3192A>C (p.Lys1064Asn)
c.3273A>C (p.Lys1091Asn)
c.3291A>C (p.Lys1097Asn)
n.3664A>C
n.3888A>C
c.2460A>C (p.Lys820Asn)
c.2235A>C (p.Lys745Asn)
c.3330A>C (p.Lys1110Asn)
c.1303A>C
c.*626A>C (n.*626A>C)
n.4269A>C
n.2870A>C
c.3381A>C (p.Lys1127Asn)
c.3429A>C (p.Lys1143Asn)
c.3489A>C (p.Lys1163Asn)
c.3039A>C (p.Lys1013Asn)
c.1341A>C (p.Lys447Asn)
c.1158A>C (p.Lys386Asn)
c.3390A>C (p.Lys1130Asn)
c.3342A>C (p.Lys1114Asn)
c.3111A>C (p.Lys1037Asn)
c.3012A>C (p.Lys1004Asn)
c.2193A>C (p.Lys731Asn)
n.3744A>C
13g.51941112T=CA2091559382ATP7Bc.*1175A= (n.*1175A=)
c.*2269A= (n.*2269A=)
c.2904A= (p.Lys968=)
c.3525A= (p.Lys1175=)
c.3192A= (p.Lys1064=)
c.3273A= (p.Lys1091=)
c.3291A= (p.Lys1097=)
n.3664A=
n.3888A=
c.2460A= (p.Lys820=)
c.2235A= (p.Lys745=)
c.3330A= (p.Lys1110=)
c.1303A=
c.*626A= (n.*626A=)
n.4269A=
n.2870A=
c.3381A= (p.Lys1127=)
c.3429A= (p.Lys1143=)
c.3489A= (p.Lys1163=)
c.3039A= (p.Lys1013=)
c.1341A= (p.Lys447=)
c.1158A= (p.Lys386=)
c.3390A= (p.Lys1130=)
c.3342A= (p.Lys1114=)
c.3111A= (p.Lys1037=)
c.3012A= (p.Lys1004=)
c.2193A= (p.Lys731=)
n.3744A=
13g.51941113T>ACA388026099ATP7Bc.*1174A>T (n.*1174A>T)
c.*2268A>T (n.*2268A>T)
c.2903A>T (p.Lys968Ile)
c.3524A>T (p.Lys1175Ile)
c.3191A>T (p.Lys1064Ile)
c.3272A>T (p.Lys1091Ile)
c.3290A>T (p.Lys1097Ile)
n.3663A>T
n.3887A>T
c.2459A>T (p.Lys820Ile)
c.2234A>T (p.Lys745Ile)
c.3329A>T (p.Lys1110Ile)
c.1302A>T
c.*625A>T (n.*625A>T)
n.4268A>T
n.2869A>T
c.3380A>T (p.Lys1127Ile)
c.3428A>T (p.Lys1143Ile)
c.3488A>T (p.Lys1163Ile)
c.3038A>T (p.Lys1013Ile)
c.1340A>T (p.Lys447Ile)
c.1157A>T (p.Lys386Ile)
c.3389A>T (p.Lys1130Ile)
c.3341A>T (p.Lys1114Ile)
c.3110A>T (p.Lys1037Ile)
c.3011A>T (p.Lys1004Ile)
c.2192A>T (p.Lys731Ile)
n.3743A>T
13g.51941113T>CCA388026093ATP7Bc.*1174A>G (n.*1174A>G)
c.*2268A>G (n.*2268A>G)
c.2903A>G (p.Lys968Arg)
c.3524A>G (p.Lys1175Arg)
c.3191A>G (p.Lys1064Arg)
c.3272A>G (p.Lys1091Arg)
c.3290A>G (p.Lys1097Arg)
n.3663A>G
n.3887A>G
c.2459A>G (p.Lys820Arg)
c.2234A>G (p.Lys745Arg)
c.3329A>G (p.Lys1110Arg)
c.1302A>G
c.*625A>G (n.*625A>G)
n.4268A>G
n.2869A>G
c.3380A>G (p.Lys1127Arg)
c.3428A>G (p.Lys1143Arg)
c.3488A>G (p.Lys1163Arg)
c.3038A>G (p.Lys1013Arg)
c.1340A>G (p.Lys447Arg)
c.1157A>G (p.Lys386Arg)
c.3389A>G (p.Lys1130Arg)
c.3341A>G (p.Lys1114Arg)
c.3110A>G (p.Lys1037Arg)
c.3011A>G (p.Lys1004Arg)
c.2192A>G (p.Lys731Arg)
n.3743A>G
 gnomAD v4
13g.51941113T>GCA250077133ATP7Bc.*1174A>C (n.*1174A>C)
c.*2268A>C (n.*2268A>C)
c.2903A>C (p.Lys968Thr)
c.3524A>C (p.Lys1175Thr)
c.3191A>C (p.Lys1064Thr)
c.3272A>C (p.Lys1091Thr)
c.3290A>C (p.Lys1097Thr)
n.3663A>C
n.3887A>C
c.2459A>C (p.Lys820Thr)
c.2234A>C (p.Lys745Thr)
c.3329A>C (p.Lys1110Thr)
c.1302A>C
c.*625A>C (n.*625A>C)
n.4268A>C
n.2869A>C
c.3380A>C (p.Lys1127Thr)
c.3428A>C (p.Lys1143Thr)
c.3488A>C (p.Lys1163Thr)
c.3038A>C (p.Lys1013Thr)
c.1340A>C (p.Lys447Thr)
c.1157A>C (p.Lys386Thr)
c.3389A>C (p.Lys1130Thr)
c.3341A>C (p.Lys1114Thr)
c.3110A>C (p.Lys1037Thr)
c.3011A>C (p.Lys1004Thr)
c.2192A>C (p.Lys731Thr)
n.3743A>C
 dbSNP gnomAD v3 gnomAD v4
13g.51941113T=CA2091559383ATP7Bc.*1174A= (n.*1174A=)
c.*2268A= (n.*2268A=)
c.2903A= (p.Lys968=)
c.3524A= (p.Lys1175=)
c.3191A= (p.Lys1064=)
c.3272A= (p.Lys1091=)
c.3290A= (p.Lys1097=)
n.3663A=
n.3887A=
c.2459A= (p.Lys820=)
c.2234A= (p.Lys745=)
c.3329A= (p.Lys1110=)
c.1302A=
c.*625A= (n.*625A=)
n.4268A=
n.2869A=
c.3380A= (p.Lys1127=)
c.3428A= (p.Lys1143=)
c.3488A= (p.Lys1163=)
c.3038A= (p.Lys1013=)
c.1340A= (p.Lys447=)
c.1157A= (p.Lys386=)
c.3389A= (p.Lys1130=)
c.3341A= (p.Lys1114=)
c.3110A= (p.Lys1037=)
c.3011A= (p.Lys1004=)
c.2192A= (p.Lys731=)
n.3743A=
13g.51941114T>ACA388026103ATP7Bc.*1173A>T (n.*1173A>T)
c.*2267A>T (n.*2267A>T)
c.2902A>T (p.Lys968Ter)
c.3523A>T (p.Lys1175Ter)
c.3190A>T (p.Lys1064Ter)
c.3271A>T (p.Lys1091Ter)
c.3289A>T (p.Lys1097Ter)
n.3662A>T
n.3886A>T
c.2458A>T (p.Lys820Ter)
c.2233A>T (p.Lys745Ter)
c.3328A>T (p.Lys1110Ter)
c.1301A>T
c.*624A>T (n.*624A>T)
n.4267A>T
n.2868A>T
c.3379A>T (p.Lys1127Ter)
c.3427A>T (p.Lys1143Ter)
c.3487A>T (p.Lys1163Ter)
c.3037A>T (p.Lys1013Ter)
c.1339A>T (p.Lys447Ter)
c.1156A>T (p.Lys386Ter)
c.3388A>T (p.Lys1130Ter)
c.3340A>T (p.Lys1114Ter)
c.3109A>T (p.Lys1037Ter)
c.3010A>T (p.Lys1004Ter)
c.2191A>T (p.Lys731Ter)
n.3742A>T
 ClinVar dbSNP
13g.51941114T>CCA388026112ATP7Bc.*1173A>G (n.*1173A>G)
c.*2267A>G (n.*2267A>G)
c.2902A>G (p.Lys968Glu)
c.3523A>G (p.Lys1175Glu)
c.3190A>G (p.Lys1064Glu)
c.3271A>G (p.Lys1091Glu)
c.3289A>G (p.Lys1097Glu)
n.3662A>G
n.3886A>G
c.2458A>G (p.Lys820Glu)
c.2233A>G (p.Lys745Glu)
c.3328A>G (p.Lys1110Glu)
c.1301A>G
c.*624A>G (n.*624A>G)
n.4267A>G
n.2868A>G
c.3379A>G (p.Lys1127Glu)
c.3427A>G (p.Lys1143Glu)
c.3487A>G (p.Lys1163Glu)
c.3037A>G (p.Lys1013Glu)
c.1339A>G (p.Lys447Glu)
c.1156A>G (p.Lys386Glu)
c.3388A>G (p.Lys1130Glu)
c.3340A>G (p.Lys1114Glu)
c.3109A>G (p.Lys1037Glu)
c.3010A>G (p.Lys1004Glu)
c.2191A>G (p.Lys731Glu)
n.3742A>G
13g.51941114T>GCA250077167ATP7Bc.*1173A>C (n.*1173A>C)
c.*2267A>C (n.*2267A>C)
c.2902A>C (p.Lys968Gln)
c.3523A>C (p.Lys1175Gln)
c.3190A>C (p.Lys1064Gln)
c.3271A>C (p.Lys1091Gln)
c.3289A>C (p.Lys1097Gln)
n.3662A>C
n.3886A>C
c.2458A>C (p.Lys820Gln)
c.2233A>C (p.Lys745Gln)
c.3328A>C (p.Lys1110Gln)
c.1301A>C
c.*624A>C (n.*624A>C)
n.4267A>C
n.2868A>C
c.3379A>C (p.Lys1127Gln)
c.3427A>C (p.Lys1143Gln)
c.3487A>C (p.Lys1163Gln)
c.3037A>C (p.Lys1013Gln)
c.1339A>C (p.Lys447Gln)
c.1156A>C (p.Lys386Gln)
c.3388A>C (p.Lys1130Gln)
c.3340A>C (p.Lys1114Gln)
c.3109A>C (p.Lys1037Gln)
c.3010A>C (p.Lys1004Gln)
c.2191A>C (p.Lys731Gln)
n.3742A>C
 ClinVar dbSNP
13g.51941114T=CA2091559389ATP7Bc.*1173A= (n.*1173A=)
c.*2267A= (n.*2267A=)
c.2902A= (p.Lys968=)
c.3523A= (p.Lys1175=)
c.3190A= (p.Lys1064=)
c.3271A= (p.Lys1091=)
c.3289A= (p.Lys1097=)
n.3662A=
n.3886A=
c.2458A= (p.Lys820=)
c.2233A= (p.Lys745=)
c.3328A= (p.Lys1110=)
c.1301A=
c.*624A= (n.*624A=)
n.4267A=
n.2868A=
c.3379A= (p.Lys1127=)
c.3427A= (p.Lys1143=)
c.3487A= (p.Lys1163=)
c.3037A= (p.Lys1013=)
c.1339A= (p.Lys447=)
c.1156A= (p.Lys386=)
c.3388A= (p.Lys1130=)
c.3340A= (p.Lys1114=)
c.3109A= (p.Lys1037=)
c.3010A= (p.Lys1004=)
c.2191A= (p.Lys731=)
n.3742A=
13g.51941115C>ACA388026116ATP7Bc.*1172G>T (n.*1172G>T)
c.*2266G>T (n.*2266G>T)
c.2901G>T (p.Met967Ile)
c.3522G>T (p.Met1174Ile)
c.3189G>T (p.Met1063Ile)
c.3270G>T (p.Met1090Ile)
c.3288G>T (p.Met1096Ile)
n.3661G>T
n.3885G>T
c.2457G>T (p.Met819Ile)
c.2232G>T (p.Met744Ile)
c.3327G>T (p.Met1109Ile)
c.1300G>T
c.*623G>T (n.*623G>T)
n.4266G>T
n.2867G>T
c.3378G>T (p.Met1126Ile)
c.3426G>T (p.Met1142Ile)
c.3486G>T (p.Met1162Ile)
c.3036G>T (p.Met1012Ile)
c.1338G>T (p.Met446Ile)
c.1155G>T (p.Met385Ile)
c.3387G>T (p.Met1129Ile)
c.3339G>T (p.Met1113Ile)
c.3108G>T (p.Met1036Ile)
c.3009G>T (p.Met1003Ile)
c.2190G>T (p.Met730Ile)
n.3741G>T
13g.51941115C>GCA388026123ATP7Bc.*1172G>C (n.*1172G>C)
c.*2266G>C (n.*2266G>C)
c.2901G>C (p.Met967Ile)
c.3522G>C (p.Met1174Ile)
c.3189G>C (p.Met1063Ile)
c.3270G>C (p.Met1090Ile)
c.3288G>C (p.Met1096Ile)
n.3661G>C
n.3885G>C
c.2457G>C (p.Met819Ile)
c.2232G>C (p.Met744Ile)
c.3327G>C (p.Met1109Ile)
c.1300G>C
c.*623G>C (n.*623G>C)
n.4266G>C
n.2867G>C
c.3378G>C (p.Met1126Ile)
c.3426G>C (p.Met1142Ile)
c.3486G>C (p.Met1162Ile)
c.3036G>C (p.Met1012Ile)
c.1338G>C (p.Met446Ile)
c.1155G>C (p.Met385Ile)
c.3387G>C (p.Met1129Ile)
c.3339G>C (p.Met1113Ile)
c.3108G>C (p.Met1036Ile)
c.3009G>C (p.Met1003Ile)
c.2190G>C (p.Met730Ile)
n.3741G>C
13g.51941115C>TCA388026127ATP7Bc.*1172G>A (n.*1172G>A)
c.*2266G>A (n.*2266G>A)
c.2901G>A (p.Met967Ile)
c.3522G>A (p.Met1174Ile)
c.3189G>A (p.Met1063Ile)
c.3270G>A (p.Met1090Ile)
c.3288G>A (p.Met1096Ile)
n.3661G>A
n.3885G>A
c.2457G>A (p.Met819Ile)
c.2232G>A (p.Met744Ile)
c.3327G>A (p.Met1109Ile)
c.1300G>A
c.*623G>A (n.*623G>A)
n.4266G>A
n.2867G>A
c.3378G>A (p.Met1126Ile)
c.3426G>A (p.Met1142Ile)
c.3486G>A (p.Met1162Ile)
c.3036G>A (p.Met1012Ile)
c.1338G>A (p.Met446Ile)
c.1155G>A (p.Met385Ile)
c.3387G>A (p.Met1129Ile)
c.3339G>A (p.Met1113Ile)
c.3108G>A (p.Met1036Ile)
c.3009G>A (p.Met1003Ile)
c.2190G>A (p.Met730Ile)
n.3741G>A
13g.51941116A>CCA388026128ATP7Bc.*1171T>G (n.*1171T>G)
c.*2265T>G (n.*2265T>G)
c.2900T>G (p.Met967Arg)
c.3521T>G (p.Met1174Arg)
c.3188T>G (p.Met1063Arg)
c.3269T>G (p.Met1090Arg)
c.3287T>G (p.Met1096Arg)
n.3660T>G
n.3884T>G
c.2456T>G (p.Met819Arg)
c.2231T>G (p.Met744Arg)
c.3326T>G (p.Met1109Arg)
c.1299T>G
c.*622T>G (n.*622T>G)
n.4265T>G
n.2866T>G
c.3377T>G (p.Met1126Arg)
c.3425T>G (p.Met1142Arg)
c.3485T>G (p.Met1162Arg)
c.3035T>G (p.Met1012Arg)
c.1337T>G (p.Met446Arg)
c.1154T>G (p.Met385Arg)
c.3386T>G (p.Met1129Arg)
c.3338T>G (p.Met1113Arg)
c.3107T>G (p.Met1036Arg)
c.3008T>G (p.Met1003Arg)
c.2189T>G (p.Met730Arg)
n.3740T>G
13g.51941116A>GCA388026131ATP7Bc.*1171T>C (n.*1171T>C)
c.*2265T>C (n.*2265T>C)
c.2900T>C (p.Met967Thr)
c.3521T>C (p.Met1174Thr)
c.3188T>C (p.Met1063Thr)
c.3269T>C (p.Met1090Thr)
c.3287T>C (p.Met1096Thr)
n.3660T>C
n.3884T>C
c.2456T>C (p.Met819Thr)
c.2231T>C (p.Met744Thr)
c.3326T>C (p.Met1109Thr)
c.1299T>C
c.*622T>C (n.*622T>C)
n.4265T>C
n.2866T>C
c.3377T>C (p.Met1126Thr)
c.3425T>C (p.Met1142Thr)
c.3485T>C (p.Met1162Thr)
c.3035T>C (p.Met1012Thr)
c.1337T>C (p.Met446Thr)
c.1154T>C (p.Met385Thr)
c.3386T>C (p.Met1129Thr)
c.3338T>C (p.Met1113Thr)
c.3107T>C (p.Met1036Thr)
c.3008T>C (p.Met1003Thr)
c.2189T>C (p.Met730Thr)
n.3740T>C
13g.51941116A>TCA388026129ATP7Bc.*1171T>A (n.*1171T>A)
c.*2265T>A (n.*2265T>A)
c.2900T>A (p.Met967Lys)
c.3521T>A (p.Met1174Lys)
c.3188T>A (p.Met1063Lys)
c.3269T>A (p.Met1090Lys)
c.3287T>A (p.Met1096Lys)
n.3660T>A
n.3884T>A
c.2456T>A (p.Met819Lys)
c.2231T>A (p.Met744Lys)
c.3326T>A (p.Met1109Lys)
c.1299T>A
c.*622T>A (n.*622T>A)
n.4265T>A
n.2866T>A
c.3377T>A (p.Met1126Lys)
c.3425T>A (p.Met1142Lys)
c.3485T>A (p.Met1162Lys)
c.3035T>A (p.Met1012Lys)
c.1337T>A (p.Met446Lys)
c.1154T>A (p.Met385Lys)
c.3386T>A (p.Met1129Lys)
c.3338T>A (p.Met1113Lys)
c.3107T>A (p.Met1036Lys)
c.3008T>A (p.Met1003Lys)
c.2189T>A (p.Met730Lys)
n.3740T>A
 ClinVar
13g.51941117T>ACA388026133ATP7Bc.*1170A>T (n.*1170A>T)
c.*2264A>T (n.*2264A>T)
c.2899A>T (p.Met967Leu)
c.3520A>T (p.Met1174Leu)
c.3187A>T (p.Met1063Leu)
c.3268A>T (p.Met1090Leu)
c.3286A>T (p.Met1096Leu)
n.3659A>T
n.3883A>T
c.2455A>T (p.Met819Leu)
c.2230A>T (p.Met744Leu)
c.3325A>T (p.Met1109Leu)
c.1298A>T
c.*621A>T (n.*621A>T)
n.4264A>T
n.2865A>T
c.3376A>T (p.Met1126Leu)
c.3424A>T (p.Met1142Leu)
c.3484A>T (p.Met1162Leu)
c.3034A>T (p.Met1012Leu)
c.1336A>T (p.Met446Leu)
c.1153A>T (p.Met385Leu)
c.3385A>T (p.Met1129Leu)
c.3337A>T (p.Met1113Leu)
c.3106A>T (p.Met1036Leu)
c.3007A>T (p.Met1003Leu)
c.2188A>T (p.Met730Leu)
n.3739A>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.51941117T>CCA6988666ATP7Bc.*1170A>G (n.*1170A>G)
c.*2264A>G (n.*2264A>G)
c.2899A>G (p.Met967Val)
c.3520A>G (p.Met1174Val)
c.3187A>G (p.Met1063Val)
c.3268A>G (p.Met1090Val)
c.3286A>G (p.Met1096Val)
n.3659A>G
n.3883A>G
c.2455A>G (p.Met819Val)
c.2230A>G (p.Met744Val)
c.3325A>G (p.Met1109Val)
c.1298A>G
c.*621A>G (n.*621A>G)
n.4264A>G
n.2865A>G
c.3376A>G (p.Met1126Val)
c.3424A>G (p.Met1142Val)
c.3484A>G (p.Met1162Val)
c.3034A>G (p.Met1012Val)
c.1336A>G (p.Met446Val)
c.1153A>G (p.Met385Val)
c.3385A>G (p.Met1129Val)
c.3337A>G (p.Met1113Val)
c.3106A>G (p.Met1036Val)
c.3007A>G (p.Met1003Val)
c.2188A>G (p.Met730Val)
n.3739A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941117T>GCA388026139ATP7Bc.*1170A>C (n.*1170A>C)
c.*2264A>C (n.*2264A>C)
c.2899A>C (p.Met967Leu)
c.3520A>C (p.Met1174Leu)
c.3187A>C (p.Met1063Leu)
c.3268A>C (p.Met1090Leu)
c.3286A>C (p.Met1096Leu)
n.3659A>C
n.3883A>C
c.2455A>C (p.Met819Leu)
c.2230A>C (p.Met744Leu)
c.3325A>C (p.Met1109Leu)
c.1298A>C
c.*621A>C (n.*621A>C)
n.4264A>C
n.2865A>C
c.3376A>C (p.Met1126Leu)
c.3424A>C (p.Met1142Leu)
c.3484A>C (p.Met1162Leu)
c.3034A>C (p.Met1012Leu)
c.1336A>C (p.Met446Leu)
c.1153A>C (p.Met385Leu)
c.3385A>C (p.Met1129Leu)
c.3337A>C (p.Met1113Leu)
c.3106A>C (p.Met1036Leu)
c.3007A>C (p.Met1003Leu)
c.2188A>C (p.Met730Leu)
n.3739A>C
13g.51941117T=CA2091559393ATP7Bc.*1170A= (n.*1170A=)
c.*2264A= (n.*2264A=)
c.2899A= (p.Met967=)
c.3520A= (p.Met1174=)
c.3187A= (p.Met1063=)
c.3268A= (p.Met1090=)
c.3286A= (p.Met1096=)
n.3659A=
n.3883A=
c.2455A= (p.Met819=)
c.2230A= (p.Met744=)
c.3325A= (p.Met1109=)
c.1298A=
c.*621A= (n.*621A=)
n.4264A=
n.2865A=
c.3376A= (p.Met1126=)
c.3424A= (p.Met1142=)
c.3484A= (p.Met1162=)
c.3034A= (p.Met1012=)
c.1336A= (p.Met446=)
c.1153A= (p.Met385=)
c.3385A= (p.Met1129=)
c.3337A= (p.Met1113=)
c.3106A= (p.Met1036=)
c.3007A= (p.Met1003=)
c.2188A= (p.Met730=)
n.3739A=
13g.51941118C>ACA388026143ATP7Bc.*1169G>T (n.*1169G>T)
c.*2263G>T (n.*2263G>T)
c.2898G>T (p.Glu966Asp)
c.3519G>T (p.Glu1173Asp)
c.3186G>T (p.Glu1062Asp)
c.3267G>T (p.Glu1089Asp)
c.3285G>T (p.Glu1095Asp)
n.3658G>T
n.3882G>T
c.2454G>T (p.Glu818Asp)
c.2229G>T (p.Glu743Asp)
c.3324G>T (p.Glu1108Asp)
c.1297G>T
c.*620G>T (n.*620G>T)
n.4263G>T
n.2864G>T
c.3375G>T (p.Glu1125Asp)
c.3423G>T (p.Glu1141Asp)
c.3483G>T (p.Glu1161Asp)
c.3033G>T (p.Glu1011Asp)
c.1335G>T (p.Glu445Asp)
c.1152G>T (p.Glu384Asp)
c.3384G>T (p.Glu1128Asp)
c.3336G>T (p.Glu1112Asp)
c.3105G>T (p.Glu1035Asp)
c.3006G>T (p.Glu1002Asp)
c.2187G>T (p.Glu729Asp)
n.3738G>T
13g.51941118C>GCA388026144ATP7Bc.*1169G>C (n.*1169G>C)
c.*2263G>C (n.*2263G>C)
c.2898G>C (p.Glu966Asp)
c.3519G>C (p.Glu1173Asp)
c.3186G>C (p.Glu1062Asp)
c.3267G>C (p.Glu1089Asp)
c.3285G>C (p.Glu1095Asp)
n.3658G>C
n.3882G>C
c.2454G>C (p.Glu818Asp)
c.2229G>C (p.Glu743Asp)
c.3324G>C (p.Glu1108Asp)
c.1297G>C
c.*620G>C (n.*620G>C)
n.4263G>C
n.2864G>C
c.3375G>C (p.Glu1125Asp)
c.3423G>C (p.Glu1141Asp)
c.3483G>C (p.Glu1161Asp)
c.3033G>C (p.Glu1011Asp)
c.1335G>C (p.Glu445Asp)
c.1152G>C (p.Glu384Asp)
c.3384G>C (p.Glu1128Asp)
c.3336G>C (p.Glu1112Asp)
c.3105G>C (p.Glu1035Asp)
c.3006G>C (p.Glu1002Asp)
c.2187G>C (p.Glu729Asp)
n.3738G>C
13g.51941118C>TCA483893945ATP7Bc.*1169G>A (n.*1169G>A)
c.*2263G>A (n.*2263G>A)
c.2898G>A (p.Glu966=)
c.3519G>A (p.Glu1173=)
c.3186G>A (p.Glu1062=)
c.3267G>A (p.Glu1089=)
c.3285G>A (p.Glu1095=)
n.3658G>A
n.3882G>A
c.2454G>A (p.Glu818=)
c.2229G>A (p.Glu743=)
c.3324G>A (p.Glu1108=)
c.1297G>A
c.*620G>A (n.*620G>A)
n.4263G>A
n.2864G>A
c.3375G>A (p.Glu1125=)
c.3423G>A (p.Glu1141=)
c.3483G>A (p.Glu1161=)
c.3033G>A (p.Glu1011=)
c.1335G>A (p.Glu445=)
c.1152G>A (p.Glu384=)
c.3384G>A (p.Glu1128=)
c.3336G>A (p.Glu1112=)
c.3105G>A (p.Glu1035=)
c.3006G>A (p.Glu1002=)
c.2187G>A (p.Glu729=)
n.3738G>A
 gnomAD v4
13g.51941119T>ACA388026145ATP7Bc.*1168A>T (n.*1168A>T)
c.*2262A>T (n.*2262A>T)
c.2897A>T (p.Glu966Val)
c.3518A>T (p.Glu1173Val)
c.3185A>T (p.Glu1062Val)
c.3266A>T (p.Glu1089Val)
c.3284A>T (p.Glu1095Val)
n.3657A>T
n.3881A>T
c.2453A>T (p.Glu818Val)
c.2228A>T (p.Glu743Val)
c.3323A>T (p.Glu1108Val)
c.1296A>T
c.*619A>T (n.*619A>T)
n.4262A>T
n.2863A>T
c.3374A>T (p.Glu1125Val)
c.3422A>T (p.Glu1141Val)
c.3482A>T (p.Glu1161Val)
c.3032A>T (p.Glu1011Val)
c.1334A>T (p.Glu445Val)
c.1151A>T (p.Glu384Val)
c.3383A>T (p.Glu1128Val)
c.3335A>T (p.Glu1112Val)
c.3104A>T (p.Glu1035Val)
c.3005A>T (p.Glu1002Val)
c.2186A>T (p.Glu729Val)
n.3737A>T
 gnomAD v4
13g.51941119T>CCA388026146ATP7Bc.*1168A>G (n.*1168A>G)
c.*2262A>G (n.*2262A>G)
c.2897A>G (p.Glu966Gly)
c.3518A>G (p.Glu1173Gly)
c.3185A>G (p.Glu1062Gly)
c.3266A>G (p.Glu1089Gly)
c.3284A>G (p.Glu1095Gly)
n.3657A>G
n.3881A>G
c.2453A>G (p.Glu818Gly)
c.2228A>G (p.Glu743Gly)
c.3323A>G (p.Glu1108Gly)
c.1296A>G
c.*619A>G (n.*619A>G)
n.4262A>G
n.2863A>G
c.3374A>G (p.Glu1125Gly)
c.3422A>G (p.Glu1141Gly)
c.3482A>G (p.Glu1161Gly)
c.3032A>G (p.Glu1011Gly)
c.1334A>G (p.Glu445Gly)
c.1151A>G (p.Glu384Gly)
c.3383A>G (p.Glu1128Gly)
c.3335A>G (p.Glu1112Gly)
c.3104A>G (p.Glu1035Gly)
c.3005A>G (p.Glu1002Gly)
c.2186A>G (p.Glu729Gly)
n.3737A>G
 gnomAD v4
13g.51941119T>GCA388026147ATP7Bc.*1168A>C (n.*1168A>C)
c.*2262A>C (n.*2262A>C)
c.2897A>C (p.Glu966Ala)
c.3518A>C (p.Glu1173Ala)
c.3185A>C (p.Glu1062Ala)
c.3266A>C (p.Glu1089Ala)
c.3284A>C (p.Glu1095Ala)
n.3657A>C
n.3881A>C
c.2453A>C (p.Glu818Ala)
c.2228A>C (p.Glu743Ala)
c.3323A>C (p.Glu1108Ala)
c.1296A>C
c.*619A>C (n.*619A>C)
n.4262A>C
n.2863A>C
c.3374A>C (p.Glu1125Ala)
c.3422A>C (p.Glu1141Ala)
c.3482A>C (p.Glu1161Ala)
c.3032A>C (p.Glu1011Ala)
c.1334A>C (p.Glu445Ala)
c.1151A>C (p.Glu384Ala)
c.3383A>C (p.Glu1128Ala)
c.3335A>C (p.Glu1112Ala)
c.3104A>C (p.Glu1035Ala)
c.3005A>C (p.Glu1002Ala)
c.2186A>C (p.Glu729Ala)
n.3737A>C
13g.51941120C>ACA388026150ATP7Bc.*1167G>T (n.*1167G>T)
c.*2261G>T (n.*2261G>T)
c.2896G>T (p.Glu966Ter)
c.3517G>T (p.Glu1173Ter)
c.3184G>T (p.Glu1062Ter)
c.3265G>T (p.Glu1089Ter)
c.3283G>T (p.Glu1095Ter)
n.3656G>T
n.3880G>T
c.2452G>T (p.Glu818Ter)
c.2227G>T (p.Glu743Ter)
c.3322G>T (p.Glu1108Ter)
c.1295G>T
c.*618G>T (n.*618G>T)
n.4261G>T
n.2862G>T
c.3373G>T (p.Glu1125Ter)
c.3421G>T (p.Glu1141Ter)
c.3481G>T (p.Glu1161Ter)
c.3031G>T (p.Glu1011Ter)
c.1333G>T (p.Glu445Ter)
c.1150G>T (p.Glu384Ter)
c.3382G>T (p.Glu1128Ter)
c.3334G>T (p.Glu1112Ter)
c.3103G>T (p.Glu1035Ter)
c.3004G>T (p.Glu1002Ter)
c.2185G>T (p.Glu729Ter)
n.3736G>T
13g.51941120C=CA2091559398ATP7Bc.*1167G= (n.*1167G=)
c.*2261G= (n.*2261G=)
c.2896G= (p.Glu966=)
c.3517G= (p.Glu1173=)
c.3184G= (p.Glu1062=)
c.3265G= (p.Glu1089=)
c.3283G= (p.Glu1095=)
n.3656G=
n.3880G=
c.2452G= (p.Glu818=)
c.2227G= (p.Glu743=)
c.3322G= (p.Glu1108=)
c.1295G=
c.*618G= (n.*618G=)
n.4261G=
n.2862G=
c.3373G= (p.Glu1125=)
c.3421G= (p.Glu1141=)
c.3481G= (p.Glu1161=)
c.3031G= (p.Glu1011=)
c.1333G= (p.Glu445=)
c.1150G= (p.Glu384=)
c.3382G= (p.Glu1128=)
c.3334G= (p.Glu1112=)
c.3103G= (p.Glu1035=)
c.3004G= (p.Glu1002=)
c.2185G= (p.Glu729=)
n.3736G=
13g.51941120C>GCA388026153ATP7Bc.*1167G>C (n.*1167G>C)
c.*2261G>C (n.*2261G>C)
c.2896G>C (p.Glu966Gln)
c.3517G>C (p.Glu1173Gln)
c.3184G>C (p.Glu1062Gln)
c.3265G>C (p.Glu1089Gln)
c.3283G>C (p.Glu1095Gln)
n.3656G>C
n.3880G>C
c.2452G>C (p.Glu818Gln)
c.2227G>C (p.Glu743Gln)
c.3322G>C (p.Glu1108Gln)
c.1295G>C
c.*618G>C (n.*618G>C)
n.4261G>C
n.2862G>C
c.3373G>C (p.Glu1125Gln)
c.3421G>C (p.Glu1141Gln)
c.3481G>C (p.Glu1161Gln)
c.3031G>C (p.Glu1011Gln)
c.1333G>C (p.Glu445Gln)
c.1150G>C (p.Glu384Gln)
c.3382G>C (p.Glu1128Gln)
c.3334G>C (p.Glu1112Gln)
c.3103G>C (p.Glu1035Gln)
c.3004G>C (p.Glu1002Gln)
c.2185G>C (p.Glu729Gln)
n.3736G>C
13g.51941120C>TCA274321ATP7Bc.*1167G>A (n.*1167G>A)
c.*2261G>A (n.*2261G>A)
c.2896G>A (p.Glu966Lys)
c.3517G>A (p.Glu1173Lys)
c.3184G>A (p.Glu1062Lys)
c.3265G>A (p.Glu1089Lys)
c.3283G>A (p.Glu1095Lys)
n.3656G>A
n.3880G>A
c.2452G>A (p.Glu818Lys)
c.2227G>A (p.Glu743Lys)
c.3322G>A (p.Glu1108Lys)
c.1295G>A
c.*618G>A (n.*618G>A)
n.4261G>A
n.2862G>A
c.3373G>A (p.Glu1125Lys)
c.3421G>A (p.Glu1141Lys)
c.3481G>A (p.Glu1161Lys)
c.3031G>A (p.Glu1011Lys)
c.1333G>A (p.Glu445Lys)
c.1150G>A (p.Glu384Lys)
c.3382G>A (p.Glu1128Lys)
c.3334G>A (p.Glu1112Lys)
c.3103G>A (p.Glu1035Lys)
c.3004G>A (p.Glu1002Lys)
c.2185G>A (p.Glu729Lys)
n.3736G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941121G>ACA6988667ATP7Bc.*1166C>T (n.*1166C>T)
c.*2260C>T (n.*2260C>T)
c.2895C>T (p.His965=)
c.3516C>T (p.His1172=)
c.3183C>T (p.His1061=)
c.3264C>T (p.His1088=)
c.3282C>T (p.His1094=)
n.3655C>T
n.3879C>T
c.2451C>T (p.His817=)
c.2226C>T (p.His742=)
c.3321C>T (p.His1107=)
c.1294C>T
c.*617C>T (n.*617C>T)
n.4260C>T
n.2861C>T
c.3372C>T (p.His1124=)
c.3420C>T (p.His1140=)
c.3480C>T (p.His1160=)
c.3030C>T (p.His1010=)
c.1332C>T (p.His444=)
c.1149C>T (p.His383=)
c.3381C>T (p.His1127=)
c.3333C>T (p.His1111=)
c.3102C>T (p.His1034=)
c.3003C>T (p.His1001=)
c.2184C>T (p.His728=)
n.3735C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941121G>CCA388026177ATP7Bc.*1166C>G (n.*1166C>G)
c.*2260C>G (n.*2260C>G)
c.2895C>G (p.His965Gln)
c.3516C>G (p.His1172Gln)
c.3183C>G (p.His1061Gln)
c.3264C>G (p.His1088Gln)
c.3282C>G (p.His1094Gln)
n.3655C>G
n.3879C>G
c.2451C>G (p.His817Gln)
c.2226C>G (p.His742Gln)
c.3321C>G (p.His1107Gln)
c.1294C>G
c.*617C>G (n.*617C>G)
n.4260C>G
n.2861C>G
c.3372C>G (p.His1124Gln)
c.3420C>G (p.His1140Gln)
c.3480C>G (p.His1160Gln)
c.3030C>G (p.His1010Gln)
c.1332C>G (p.His444Gln)
c.1149C>G (p.His383Gln)
c.3381C>G (p.His1127Gln)
c.3333C>G (p.His1111Gln)
c.3102C>G (p.His1034Gln)
c.3003C>G (p.His1001Gln)
c.2184C>G (p.His728Gln)
n.3735C>G
13g.51941121G=CA2091559403ATP7Bc.*1166C= (n.*1166C=)
c.*2260C= (n.*2260C=)
c.2895C= (p.His965=)
c.3516C= (p.His1172=)
c.3183C= (p.His1061=)
c.3264C= (p.His1088=)
c.3282C= (p.His1094=)
n.3655C=
n.3879C=
c.2451C= (p.His817=)
c.2226C= (p.His742=)
c.3321C= (p.His1107=)
c.1294C=
c.*617C= (n.*617C=)
n.4260C=
n.2861C=
c.3372C= (p.His1124=)
c.3420C= (p.His1140=)
c.3480C= (p.His1160=)
c.3030C= (p.His1010=)
c.1332C= (p.His444=)
c.1149C= (p.His383=)
c.3381C= (p.His1127=)
c.3333C= (p.His1111=)
c.3102C= (p.His1034=)
c.3003C= (p.His1001=)
c.2184C= (p.His728=)
n.3735C=
13g.51941121G>TCA388026173ATP7Bc.*1166C>A (n.*1166C>A)
c.*2260C>A (n.*2260C>A)
c.2895C>A (p.His965Gln)
c.3516C>A (p.His1172Gln)
c.3183C>A (p.His1061Gln)
c.3264C>A (p.His1088Gln)
c.3282C>A (p.His1094Gln)
n.3655C>A
n.3879C>A
c.2451C>A (p.His817Gln)
c.2226C>A (p.His742Gln)
c.3321C>A (p.His1107Gln)
c.1294C>A
c.*617C>A (n.*617C>A)
n.4260C>A
n.2861C>A
c.3372C>A (p.His1124Gln)
c.3420C>A (p.His1140Gln)
c.3480C>A (p.His1160Gln)
c.3030C>A (p.His1010Gln)
c.1332C>A (p.His444Gln)
c.1149C>A (p.His383Gln)
c.3381C>A (p.His1127Gln)
c.3333C>A (p.His1111Gln)
c.3102C>A (p.His1034Gln)
c.3003C>A (p.His1001Gln)
c.2184C>A (p.His728Gln)
n.3735C>A
13g.51941122T>ACA388026180ATP7Bc.*1165A>T (n.*1165A>T)
c.*2259A>T (n.*2259A>T)
c.2894A>T (p.His965Leu)
c.3515A>T (p.His1172Leu)
c.3182A>T (p.His1061Leu)
c.3263A>T (p.His1088Leu)
c.3281A>T (p.His1094Leu)
n.3654A>T
n.3878A>T
c.2450A>T (p.His817Leu)
c.2225A>T (p.His742Leu)
c.3320A>T (p.His1107Leu)
c.1293A>T
c.*616A>T (n.*616A>T)
n.4259A>T
n.2860A>T
c.3371A>T (p.His1124Leu)
c.3419A>T (p.His1140Leu)
c.3479A>T (p.His1160Leu)
c.3029A>T (p.His1010Leu)
c.1331A>T (p.His444Leu)
c.1148A>T (p.His383Leu)
c.3380A>T (p.His1127Leu)
c.3332A>T (p.His1111Leu)
c.3101A>T (p.His1034Leu)
c.3002A>T (p.His1001Leu)
c.2183A>T (p.His728Leu)
n.3734A>T
13g.51941122T>CCA388026185ATP7Bc.*1165A>G (n.*1165A>G)
c.*2259A>G (n.*2259A>G)
c.2894A>G (p.His965Arg)
c.3515A>G (p.His1172Arg)
c.3182A>G (p.His1061Arg)
c.3263A>G (p.His1088Arg)
c.3281A>G (p.His1094Arg)
n.3654A>G
n.3878A>G
c.2450A>G (p.His817Arg)
c.2225A>G (p.His742Arg)
c.3320A>G (p.His1107Arg)
c.1293A>G
c.*616A>G (n.*616A>G)
n.4259A>G
n.2860A>G
c.3371A>G (p.His1124Arg)
c.3419A>G (p.His1140Arg)
c.3479A>G (p.His1160Arg)
c.3029A>G (p.His1010Arg)
c.1331A>G (p.His444Arg)
c.1148A>G (p.His383Arg)
c.3380A>G (p.His1127Arg)
c.3332A>G (p.His1111Arg)
c.3101A>G (p.His1034Arg)
c.3002A>G (p.His1001Arg)
c.2183A>G (p.His728Arg)
n.3734A>G
13g.51941122T>GCA388026183ATP7Bc.*1165A>C (n.*1165A>C)
c.*2259A>C (n.*2259A>C)
c.2894A>C (p.His965Pro)
c.3515A>C (p.His1172Pro)
c.3182A>C (p.His1061Pro)
c.3263A>C (p.His1088Pro)
c.3281A>C (p.His1094Pro)
n.3654A>C
n.3878A>C
c.2450A>C (p.His817Pro)
c.2225A>C (p.His742Pro)
c.3320A>C (p.His1107Pro)
c.1293A>C
c.*616A>C (n.*616A>C)
n.4259A>C
n.2860A>C
c.3371A>C (p.His1124Pro)
c.3419A>C (p.His1140Pro)
c.3479A>C (p.His1160Pro)
c.3029A>C (p.His1010Pro)
c.1331A>C (p.His444Pro)
c.1148A>C (p.His383Pro)
c.3380A>C (p.His1127Pro)
c.3332A>C (p.His1111Pro)
c.3101A>C (p.His1034Pro)
c.3002A>C (p.His1001Pro)
c.2183A>C (p.His728Pro)
n.3734A>C
13g.51941123G>ACA388026190ATP7Bc.*1164C>T (n.*1164C>T)
c.*2258C>T (n.*2258C>T)
c.2893C>T (p.His965Tyr)
c.3514C>T (p.His1172Tyr)
c.3181C>T (p.His1061Tyr)
c.3262C>T (p.His1088Tyr)
c.3280C>T (p.His1094Tyr)
n.3653C>T
n.3877C>T
c.2449C>T (p.His817Tyr)
c.2224C>T (p.His742Tyr)
c.3319C>T (p.His1107Tyr)
c.1292C>T
c.*615C>T (n.*615C>T)
n.4258C>T
n.2859C>T
c.3370C>T (p.His1124Tyr)
c.3418C>T (p.His1140Tyr)
c.3478C>T (p.His1160Tyr)
c.3028C>T (p.His1010Tyr)
c.1330C>T (p.His444Tyr)
c.1147C>T (p.His383Tyr)
c.3379C>T (p.His1127Tyr)
c.3331C>T (p.His1111Tyr)
c.3100C>T (p.His1034Tyr)
c.3001C>T (p.His1001Tyr)
c.2182C>T (p.His728Tyr)
n.3733C>T
13g.51941123G>CCA388026197ATP7Bc.*1164C>G (n.*1164C>G)
c.*2258C>G (n.*2258C>G)
c.2893C>G (p.His965Asp)
c.3514C>G (p.His1172Asp)
c.3181C>G (p.His1061Asp)
c.3262C>G (p.His1088Asp)
c.3280C>G (p.His1094Asp)
n.3653C>G
n.3877C>G
c.2449C>G (p.His817Asp)
c.2224C>G (p.His742Asp)
c.3319C>G (p.His1107Asp)
c.1292C>G
c.*615C>G (n.*615C>G)
n.4258C>G
n.2859C>G
c.3370C>G (p.His1124Asp)
c.3418C>G (p.His1140Asp)
c.3478C>G (p.His1160Asp)
c.3028C>G (p.His1010Asp)
c.1330C>G (p.His444Asp)
c.1147C>G (p.His383Asp)
c.3379C>G (p.His1127Asp)
c.3331C>G (p.His1111Asp)
c.3100C>G (p.His1034Asp)
c.3001C>G (p.His1001Asp)
c.2182C>G (p.His728Asp)
n.3733C>G
13g.51941123G>TCA388026194ATP7Bc.*1164C>A (n.*1164C>A)
c.*2258C>A (n.*2258C>A)
c.2893C>A (p.His965Asn)
c.3514C>A (p.His1172Asn)
c.3181C>A (p.His1061Asn)
c.3262C>A (p.His1088Asn)
c.3280C>A (p.His1094Asn)
n.3653C>A
n.3877C>A
c.2449C>A (p.His817Asn)
c.2224C>A (p.His742Asn)
c.3319C>A (p.His1107Asn)
c.1292C>A
c.*615C>A (n.*615C>A)
n.4258C>A
n.2859C>A
c.3370C>A (p.His1124Asn)
c.3418C>A (p.His1140Asn)
c.3478C>A (p.His1160Asn)
c.3028C>A (p.His1010Asn)
c.1330C>A (p.His444Asn)
c.1147C>A (p.His383Asn)
c.3379C>A (p.His1127Asn)
c.3331C>A (p.His1111Asn)
c.3100C>A (p.His1034Asn)
c.3001C>A (p.His1001Asn)
c.2182C>A (p.His728Asn)
n.3733C>A
13g.51941124G>ACA483893946ATP7Bc.*1163C>T (n.*1163C>T)
c.*2257C>T (n.*2257C>T)
c.2892C>T (p.Asp964=)
c.3513C>T (p.Asp1171=)
c.3180C>T (p.Asp1060=)
c.3261C>T (p.Asp1087=)
c.3279C>T (p.Asp1093=)
n.3652C>T
n.3876C>T
c.2448C>T (p.Asp816=)
c.2223C>T (p.Asp741=)
c.3318C>T (p.Asp1106=)
c.1291C>T
c.*614C>T (n.*614C>T)
n.4257C>T
n.2858C>T
c.3369C>T (p.Asp1123=)
c.3417C>T (p.Asp1139=)
c.3477C>T (p.Asp1159=)
c.3027C>T (p.Asp1009=)
c.1329C>T (p.Asp443=)
c.1146C>T (p.Asp382=)
c.3378C>T (p.Asp1126=)
c.3330C>T (p.Asp1110=)
c.3099C>T (p.Asp1033=)
c.3000C>T (p.Asp1000=)
c.2181C>T (p.Asp727=)
n.3732C>T
13g.51941124G>CCA388026201ATP7Bc.*1163C>G (n.*1163C>G)
c.*2257C>G (n.*2257C>G)
c.2892C>G (p.Asp964Glu)
c.3513C>G (p.Asp1171Glu)
c.3180C>G (p.Asp1060Glu)
c.3261C>G (p.Asp1087Glu)
c.3279C>G (p.Asp1093Glu)
n.3652C>G
n.3876C>G
c.2448C>G (p.Asp816Glu)
c.2223C>G (p.Asp741Glu)
c.3318C>G (p.Asp1106Glu)
c.1291C>G
c.*614C>G (n.*614C>G)
n.4257C>G
n.2858C>G
c.3369C>G (p.Asp1123Glu)
c.3417C>G (p.Asp1139Glu)
c.3477C>G (p.Asp1159Glu)
c.3027C>G (p.Asp1009Glu)
c.1329C>G (p.Asp443Glu)
c.1146C>G (p.Asp382Glu)
c.3378C>G (p.Asp1126Glu)
c.3330C>G (p.Asp1110Glu)
c.3099C>G (p.Asp1033Glu)
c.3000C>G (p.Asp1000Glu)
c.2181C>G (p.Asp727Glu)
n.3732C>G
13g.51941124G>TCA388026205ATP7Bc.*1163C>A (n.*1163C>A)
c.*2257C>A (n.*2257C>A)
c.2892C>A (p.Asp964Glu)
c.3513C>A (p.Asp1171Glu)
c.3180C>A (p.Asp1060Glu)
c.3261C>A (p.Asp1087Glu)
c.3279C>A (p.Asp1093Glu)
n.3652C>A
n.3876C>A
c.2448C>A (p.Asp816Glu)
c.2223C>A (p.Asp741Glu)
c.3318C>A (p.Asp1106Glu)
c.1291C>A
c.*614C>A (n.*614C>A)
n.4257C>A
n.2858C>A
c.3369C>A (p.Asp1123Glu)
c.3417C>A (p.Asp1139Glu)
c.3477C>A (p.Asp1159Glu)
c.3027C>A (p.Asp1009Glu)
c.1329C>A (p.Asp443Glu)
c.1146C>A (p.Asp382Glu)
c.3378C>A (p.Asp1126Glu)
c.3330C>A (p.Asp1110Glu)
c.3099C>A (p.Asp1033Glu)
c.3000C>A (p.Asp1000Glu)
c.2181C>A (p.Asp727Glu)
n.3732C>A
13g.51941125T>ACA388026213ATP7Bc.*1162A>T (n.*1162A>T)
c.*2256A>T (n.*2256A>T)
c.2891A>T (p.Asp964Val)
c.3512A>T (p.Asp1171Val)
c.3179A>T (p.Asp1060Val)
c.3260A>T (p.Asp1087Val)
c.3278A>T (p.Asp1093Val)
n.3651A>T
n.3875A>T
c.2447A>T (p.Asp816Val)
c.2222A>T (p.Asp741Val)
c.3317A>T (p.Asp1106Val)
c.1290A>T
c.*613A>T (n.*613A>T)
n.4256A>T
n.2857A>T
c.3368A>T (p.Asp1123Val)
c.3416A>T (p.Asp1139Val)
c.3476A>T (p.Asp1159Val)
c.3026A>T (p.Asp1009Val)
c.1328A>T (p.Asp443Val)
c.1145A>T (p.Asp382Val)
c.3377A>T (p.Asp1126Val)
c.3329A>T (p.Asp1110Val)
c.3098A>T (p.Asp1033Val)
c.2999A>T (p.Asp1000Val)
c.2180A>T (p.Asp727Val)
n.3731A>T
13g.51941125T>CCA388026215ATP7Bc.*1162A>G (n.*1162A>G)
c.*2256A>G (n.*2256A>G)
c.2891A>G (p.Asp964Gly)
c.3512A>G (p.Asp1171Gly)
c.3179A>G (p.Asp1060Gly)
c.3260A>G (p.Asp1087Gly)
c.3278A>G (p.Asp1093Gly)
n.3651A>G
n.3875A>G
c.2447A>G (p.Asp816Gly)
c.2222A>G (p.Asp741Gly)
c.3317A>G (p.Asp1106Gly)
c.1290A>G
c.*613A>G (n.*613A>G)
n.4256A>G
n.2857A>G
c.3368A>G (p.Asp1123Gly)
c.3416A>G (p.Asp1139Gly)
c.3476A>G (p.Asp1159Gly)
c.3026A>G (p.Asp1009Gly)
c.1328A>G (p.Asp443Gly)
c.1145A>G (p.Asp382Gly)
c.3377A>G (p.Asp1126Gly)
c.3329A>G (p.Asp1110Gly)
c.3098A>G (p.Asp1033Gly)
c.2999A>G (p.Asp1000Gly)
c.2180A>G (p.Asp727Gly)
n.3731A>G
13g.51941125T>GCA388026218ATP7Bc.*1162A>C (n.*1162A>C)
c.*2256A>C (n.*2256A>C)
c.2891A>C (p.Asp964Ala)
c.3512A>C (p.Asp1171Ala)
c.3179A>C (p.Asp1060Ala)
c.3260A>C (p.Asp1087Ala)
c.3278A>C (p.Asp1093Ala)
n.3651A>C
n.3875A>C
c.2447A>C (p.Asp816Ala)
c.2222A>C (p.Asp741Ala)
c.3317A>C (p.Asp1106Ala)
c.1290A>C
c.*613A>C (n.*613A>C)
n.4256A>C
n.2857A>C
c.3368A>C (p.Asp1123Ala)
c.3416A>C (p.Asp1139Ala)
c.3476A>C (p.Asp1159Ala)
c.3026A>C (p.Asp1009Ala)
c.1328A>C (p.Asp443Ala)
c.1145A>C (p.Asp382Ala)
c.3377A>C (p.Asp1126Ala)
c.3329A>C (p.Asp1110Ala)
c.3098A>C (p.Asp1033Ala)
c.2999A>C (p.Asp1000Ala)
c.2180A>C (p.Asp727Ala)
n.3731A>C
13g.51941126C>ACA388026221ATP7Bc.*1161G>T (n.*1161G>T)
c.*2255G>T (n.*2255G>T)
c.2890G>T (p.Asp964Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3178G>T (p.Asp1060Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3277G>T (p.Asp1093Tyr)
n.3650G>T
n.3874G>T
c.2446G>T (p.Asp816Tyr)
c.2221G>T (p.Asp741Tyr)
c.3316G>T (p.Asp1106Tyr)
c.1289G>T
c.*612G>T (n.*612G>T)
n.4255G>T
n.2856G>T
c.3367G>T (p.Asp1123Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3475G>T (p.Asp1159Tyr)
c.3025G>T (p.Asp1009Tyr)
c.1327G>T (p.Asp443Tyr)
c.1144G>T (p.Asp382Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3328G>T (p.Asp1110Tyr)
c.3097G>T (p.Asp1033Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2179G>T (p.Asp727Tyr)
n.3730G>T
13g.51941126C>GCA388026234ATP7Bc.*1161G>C (n.*1161G>C)
c.*2255G>C (n.*2255G>C)
c.2890G>C (p.Asp964His)
c.3511G>C (p.Asp1171His)
c.3178G>C (p.Asp1060His)
c.3259G>C (p.Asp1087His)
c.3277G>C (p.Asp1093His)
n.3650G>C
n.3874G>C
c.2446G>C (p.Asp816His)
c.2221G>C (p.Asp741His)
c.3316G>C (p.Asp1106His)
c.1289G>C
c.*612G>C (n.*612G>C)
n.4255G>C
n.2856G>C
c.3367G>C (p.Asp1123His)
c.3415G>C (p.Asp1139His)
c.3475G>C (p.Asp1159His)
c.3025G>C (p.Asp1009His)
c.1327G>C (p.Asp443His)
c.1144G>C (p.Asp382His)
c.3376G>C (p.Asp1126His)
c.3328G>C (p.Asp1110His)
c.3097G>C (p.Asp1033His)
c.2998G>C (p.Asp1000His)
c.2179G>C (p.Asp727His)
n.3730G>C
 gnomAD v4
13g.51941126C>TCA388026238ATP7Bc.*1161G>A (n.*1161G>A)
c.*2255G>A (n.*2255G>A)
c.2890G>A (p.Asp964Asn)
c.3511G>A (p.Asp1171Asn)
c.3178G>A (p.Asp1060Asn)
c.3259G>A (p.Asp1087Asn)
c.3277G>A (p.Asp1093Asn)
n.3650G>A
n.3874G>A
c.2446G>A (p.Asp816Asn)
c.2221G>A (p.Asp741Asn)
c.3316G>A (p.Asp1106Asn)
c.1289G>A
c.*612G>A (n.*612G>A)
n.4255G>A
n.2856G>A
c.3367G>A (p.Asp1123Asn)
c.3415G>A (p.Asp1139Asn)
c.3475G>A (p.Asp1159Asn)
c.3025G>A (p.Asp1009Asn)
c.1327G>A (p.Asp443Asn)
c.1144G>A (p.Asp382Asn)
c.3376G>A (p.Asp1126Asn)
c.3328G>A (p.Asp1110Asn)
c.3097G>A (p.Asp1033Asn)
c.2998G>A (p.Asp1000Asn)
c.2179G>A (p.Asp727Asn)
n.3730G>A
 gnomAD v4
13g.51941127T>ACA483893947ATP7Bc.*1160A>T (n.*1160A>T)
c.*2254A>T (n.*2254A>T)
c.2889A>T (p.Thr963=)
c.3510A>T (p.Thr1170=)
c.3177A>T (p.Thr1059=)
c.3258A>T (p.Thr1086=)
c.3276A>T (p.Thr1092=)
n.3649A>T
n.3873A>T
c.2445A>T (p.Thr815=)
c.2220A>T (p.Thr740=)
c.3315A>T (p.Thr1105=)
c.1288A>T
c.*611A>T (n.*611A>T)
n.4254A>T
n.2855A>T
c.3366A>T (p.Thr1122=)
c.3414A>T (p.Thr1138=)
c.3474A>T (p.Thr1158=)
c.3024A>T (p.Thr1008=)
c.1326A>T (p.Thr442=)
c.1143A>T (p.Thr381=)
c.3375A>T (p.Thr1125=)
c.3327A>T (p.Thr1109=)
c.3096A>T (p.Thr1032=)
c.2997A>T (p.Thr999=)
c.2178A>T (p.Thr726=)
n.3729A>T
13g.51941127T>CCA6988668ATP7Bc.*1160A>G (n.*1160A>G)
c.*2254A>G (n.*2254A>G)
c.2889A>G (p.Thr963=)
c.3510A>G (p.Thr1170=)
c.3177A>G (p.Thr1059=)
c.3258A>G (p.Thr1086=)
c.3276A>G (p.Thr1092=)
n.3649A>G
n.3873A>G
c.2445A>G (p.Thr815=)
c.2220A>G (p.Thr740=)
c.3315A>G (p.Thr1105=)
c.1288A>G
c.*611A>G (n.*611A>G)
n.4254A>G
n.2855A>G
c.3366A>G (p.Thr1122=)
c.3414A>G (p.Thr1138=)
c.3474A>G (p.Thr1158=)
c.3024A>G (p.Thr1008=)
c.1326A>G (p.Thr442=)
c.1143A>G (p.Thr381=)
c.3375A>G (p.Thr1125=)
c.3327A>G (p.Thr1109=)
c.3096A>G (p.Thr1032=)
c.2997A>G (p.Thr999=)
c.2178A>G (p.Thr726=)
n.3729A>G
 dbSNP ExAC gnomAD v2
13g.51941127T>GCA483893948ATP7Bc.*1160A>C (n.*1160A>C)
c.*2254A>C (n.*2254A>C)
c.2889A>C (p.Thr963=)
c.3510A>C (p.Thr1170=)
c.3177A>C (p.Thr1059=)
c.3258A>C (p.Thr1086=)
c.3276A>C (p.Thr1092=)
n.3649A>C
n.3873A>C
c.2445A>C (p.Thr815=)
c.2220A>C (p.Thr740=)
c.3315A>C (p.Thr1105=)
c.1288A>C
c.*611A>C (n.*611A>C)
n.4254A>C
n.2855A>C
c.3366A>C (p.Thr1122=)
c.3414A>C (p.Thr1138=)
c.3474A>C (p.Thr1158=)
c.3024A>C (p.Thr1008=)
c.1326A>C (p.Thr442=)
c.1143A>C (p.Thr381=)
c.3375A>C (p.Thr1125=)
c.3327A>C (p.Thr1109=)
c.3096A>C (p.Thr1032=)
c.2997A>C (p.Thr999=)
c.2178A>C (p.Thr726=)
n.3729A>C
13g.51941127T=CA2091559407ATP7Bc.*1160A= (n.*1160A=)
c.*2254A= (n.*2254A=)
c.2889A= (p.Thr963=)
c.3510A= (p.Thr1170=)
c.3177A= (p.Thr1059=)
c.3258A= (p.Thr1086=)
c.3276A= (p.Thr1092=)
n.3649A=
n.3873A=
c.2445A= (p.Thr815=)
c.2220A= (p.Thr740=)
c.3315A= (p.Thr1105=)
c.1288A=
c.*611A= (n.*611A=)
n.4254A=
n.2855A=
c.3366A= (p.Thr1122=)
c.3414A= (p.Thr1138=)
c.3474A= (p.Thr1158=)
c.3024A= (p.Thr1008=)
c.1326A= (p.Thr442=)
c.1143A= (p.Thr381=)
c.3375A= (p.Thr1125=)
c.3327A= (p.Thr1109=)
c.3096A= (p.Thr1032=)
c.2997A= (p.Thr999=)
c.2178A= (p.Thr726=)
n.3729A=
13g.51941127_51941128delinsTGCA2091559408ATP7Bc.*1159_*1160delinsCA (n.*1159_*1160delinsCA)
c.*2253_*2254delinsCA (n.*2253_*2254delinsCA)
c.2888_2889delinsCA (p.Thr963=)
c.3509_3510delinsCA (p.Thr1170=)
c.3176_3177delinsCA (p.Thr1059=)
c.3257_3258delinsCA (p.Thr1086=)
c.3275_3276delinsCA (p.Thr1092=)
n.3648_3649delinsCA
n.3872_3873delinsCA
c.2444_2445delinsCA (p.Thr815=)
c.2219_2220delinsCA (p.Thr740=)
c.3314_3315delinsCA (p.Thr1105=)
c.1287_1288delinsCA
c.*610_*611delinsCA (n.*610_*611delinsCA)
n.4253_4254delinsCA
n.2854_2855delinsCA
c.3365_3366delinsCA (p.Thr1122=)
c.3413_3414delinsCA (p.Thr1138=)
c.3473_3474delinsCA (p.Thr1158=)
c.3023_3024delinsCA (p.Thr1008=)
c.1325_1326delinsCA (p.Thr442=)
c.1142_1143delinsCA (p.Thr381=)
c.3374_3375delinsCA (p.Thr1125=)
c.3326_3327delinsCA (p.Thr1109=)
c.3095_3096delinsCA (p.Thr1032=)
c.2996_2997delinsCA (p.Thr999=)
c.2177_2178delinsCA (p.Thr726=)
n.3728_3729delinsCA
13g.51941128delCA6988669ATP7Bc.*1159del (n.*1159del)
c.*2253del (n.*2253del)
c.2888del (p.Thr963LysfsTer5)
c.3509del (p.Thr1170LysfsTer5)
c.3176del (p.Thr1059LysfsTer5)
c.3257del (p.Thr1086LysfsTer5)
c.3275del (p.Thr1092LysfsTer5)
n.3648del
n.3872del
c.2444del (p.Thr815LysfsTer5)
c.2219del (p.Thr740LysfsTer5)
c.3314del (p.Thr1105LysfsTer5)
c.1287del
c.*610del (n.*610del)
n.4253del
n.2854del
c.3365del (p.Thr1122LysfsTer5)
c.3413del (p.Thr1138LysfsTer5)
c.3473del (p.Thr1158LysfsTer5)
c.3023del (p.Thr1008LysfsTer5)
c.1325del (p.Thr442LysfsTer5)
c.1142del (p.Thr381LysfsTer5)
c.3374del (p.Thr1125LysfsTer5)
c.3326del (p.Thr1109LysfsTer5)
c.3095del (p.Thr1032LysfsTer5)
c.2996del (p.Thr999LysfsTer5)
c.2177del (p.Thr726LysfsTer5)
n.3728del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941128G>ACA388026242ATP7Bc.*1159C>T (n.*1159C>T)
c.*2253C>T (n.*2253C>T)
c.2888C>T (p.Thr963Ile)
c.3509C>T (p.Thr1170Ile)
c.3176C>T (p.Thr1059Ile)
c.3257C>T (p.Thr1086Ile)
c.3275C>T (p.Thr1092Ile)
n.3648C>T
n.3872C>T
c.2444C>T (p.Thr815Ile)
c.2219C>T (p.Thr740Ile)
c.3314C>T (p.Thr1105Ile)
c.1287C>T
c.*610C>T (n.*610C>T)
n.4253C>T
n.2854C>T
c.3365C>T (p.Thr1122Ile)
c.3413C>T (p.Thr1138Ile)
c.3473C>T (p.Thr1158Ile)
c.3023C>T (p.Thr1008Ile)
c.1325C>T (p.Thr442Ile)
c.1142C>T (p.Thr381Ile)
c.3374C>T (p.Thr1125Ile)
c.3326C>T (p.Thr1109Ile)
c.3095C>T (p.Thr1032Ile)
c.2996C>T (p.Thr999Ile)
c.2177C>T (p.Thr726Ile)
n.3728C>T
13g.51941128G>CCA388026244ATP7Bc.*1159C>G (n.*1159C>G)
c.*2253C>G (n.*2253C>G)
c.2888C>G (p.Thr963Arg)
c.3509C>G (p.Thr1170Arg)
c.3176C>G (p.Thr1059Arg)
c.3257C>G (p.Thr1086Arg)
c.3275C>G (p.Thr1092Arg)
n.3648C>G
n.3872C>G
c.2444C>G (p.Thr815Arg)
c.2219C>G (p.Thr740Arg)
c.3314C>G (p.Thr1105Arg)
c.1287C>G
c.*610C>G (n.*610C>G)
n.4253C>G
n.2854C>G
c.3365C>G (p.Thr1122Arg)
c.3413C>G (p.Thr1138Arg)
c.3473C>G (p.Thr1158Arg)
c.3023C>G (p.Thr1008Arg)
c.1325C>G (p.Thr442Arg)
c.1142C>G (p.Thr381Arg)
c.3374C>G (p.Thr1125Arg)
c.3326C>G (p.Thr1109Arg)
c.3095C>G (p.Thr1032Arg)
c.2996C>G (p.Thr999Arg)
c.2177C>G (p.Thr726Arg)
n.3728C>G
13g.51941128G>TCA388026247ATP7Bc.*1159C>A (n.*1159C>A)
c.*2253C>A (n.*2253C>A)
c.2888C>A (p.Thr963Lys)
c.3509C>A (p.Thr1170Lys)
c.3176C>A (p.Thr1059Lys)
c.3257C>A (p.Thr1086Lys)
c.3275C>A (p.Thr1092Lys)
n.3648C>A
n.3872C>A
c.2444C>A (p.Thr815Lys)
c.2219C>A (p.Thr740Lys)
c.3314C>A (p.Thr1105Lys)
c.1287C>A
c.*610C>A (n.*610C>A)
n.4253C>A
n.2854C>A
c.3365C>A (p.Thr1122Lys)
c.3413C>A (p.Thr1138Lys)
c.3473C>A (p.Thr1158Lys)
c.3023C>A (p.Thr1008Lys)
c.1325C>A (p.Thr442Lys)
c.1142C>A (p.Thr381Lys)
c.3374C>A (p.Thr1125Lys)
c.3326C>A (p.Thr1109Lys)
c.3095C>A (p.Thr1032Lys)
c.2996C>A (p.Thr999Lys)
c.2177C>A (p.Thr726Lys)
n.3728C>A
13g.51941129T>ACA388026269ATP7Bc.*1158A>T (n.*1158A>T)
c.*2252A>T (n.*2252A>T)
c.2887A>T (p.Thr963Ser)
c.3508A>T (p.Thr1170Ser)
c.3175A>T (p.Thr1059Ser)
c.3256A>T (p.Thr1086Ser)
c.3274A>T (p.Thr1092Ser)
n.3647A>T
n.3871A>T
c.2443A>T (p.Thr815Ser)
c.2218A>T (p.Thr740Ser)
c.3313A>T (p.Thr1105Ser)
c.1286A>T
c.*609A>T (n.*609A>T)
n.4252A>T
n.2853A>T
c.3364A>T (p.Thr1122Ser)
c.3412A>T (p.Thr1138Ser)
c.3472A>T (p.Thr1158Ser)
c.3022A>T (p.Thr1008Ser)
c.1324A>T (p.Thr442Ser)
c.1141A>T (p.Thr381Ser)
c.3373A>T (p.Thr1125Ser)
c.3325A>T (p.Thr1109Ser)
c.3094A>T (p.Thr1032Ser)
c.2995A>T (p.Thr999Ser)
c.2176A>T (p.Thr726Ser)
n.3727A>T
13g.51941129T>CCA388026265ATP7Bc.*1158A>G (n.*1158A>G)
c.*2252A>G (n.*2252A>G)
c.2887A>G (p.Thr963Ala)
c.3508A>G (p.Thr1170Ala)
c.3175A>G (p.Thr1059Ala)
c.3256A>G (p.Thr1086Ala)
c.3274A>G (p.Thr1092Ala)
n.3647A>G
n.3871A>G
c.2443A>G (p.Thr815Ala)
c.2218A>G (p.Thr740Ala)
c.3313A>G (p.Thr1105Ala)
c.1286A>G
c.*609A>G (n.*609A>G)
n.4252A>G
n.2853A>G
c.3364A>G (p.Thr1122Ala)
c.3412A>G (p.Thr1138Ala)
c.3472A>G (p.Thr1158Ala)
c.3022A>G (p.Thr1008Ala)
c.1324A>G (p.Thr442Ala)
c.1141A>G (p.Thr381Ala)
c.3373A>G (p.Thr1125Ala)
c.3325A>G (p.Thr1109Ala)
c.3094A>G (p.Thr1032Ala)
c.2995A>G (p.Thr999Ala)
c.2176A>G (p.Thr726Ala)
n.3727A>G
13g.51941129T>GCA388026268ATP7Bc.*1158A>C (n.*1158A>C)
c.*2252A>C (n.*2252A>C)
c.2887A>C (p.Thr963Pro)
c.3508A>C (p.Thr1170Pro)
c.3175A>C (p.Thr1059Pro)
c.3256A>C (p.Thr1086Pro)
c.3274A>C (p.Thr1092Pro)
n.3647A>C
n.3871A>C
c.2443A>C (p.Thr815Pro)
c.2218A>C (p.Thr740Pro)
c.3313A>C (p.Thr1105Pro)
c.1286A>C
c.*609A>C (n.*609A>C)
n.4252A>C
n.2853A>C
c.3364A>C (p.Thr1122Pro)
c.3412A>C (p.Thr1138Pro)
c.3472A>C (p.Thr1158Pro)
c.3022A>C (p.Thr1008Pro)
c.1324A>C (p.Thr442Pro)
c.1141A>C (p.Thr381Pro)
c.3373A>C (p.Thr1125Pro)
c.3325A>C (p.Thr1109Pro)
c.3094A>C (p.Thr1032Pro)
c.2995A>C (p.Thr999Pro)
c.2176A>C (p.Thr726Pro)
n.3727A>C
13g.51941130C>ACA388026273ATP7Bc.*1157G>T (n.*1157G>T)
c.*2251G>T (n.*2251G>T)
c.2886G>T (p.Met962Ile)
c.3507G>T (p.Met1169Ile)
c.3174G>T (p.Met1058Ile)
c.3255G>T (p.Met1085Ile)
c.3273G>T (p.Met1091Ile)
n.3646G>T
n.3870G>T
c.2442G>T (p.Met814Ile)
c.2217G>T (p.Met739Ile)
c.3312G>T (p.Met1104Ile)
c.1285G>T
c.*608G>T (n.*608G>T)
n.4251G>T
n.2852G>T
c.3363G>T (p.Met1121Ile)
c.3411G>T (p.Met1137Ile)
c.3471G>T (p.Met1157Ile)
c.3021G>T (p.Met1007Ile)
c.1323G>T (p.Met441Ile)
c.1140G>T (p.Met380Ile)
c.3372G>T (p.Met1124Ile)
c.3324G>T (p.Met1108Ile)
c.3093G>T (p.Met1031Ile)
c.2994G>T (p.Met998Ile)
c.2175G>T (p.Met725Ile)
n.3726G>T
13g.51941130C>GCA388026276ATP7Bc.*1157G>C (n.*1157G>C)
c.*2251G>C (n.*2251G>C)
c.2886G>C (p.Met962Ile)
c.3507G>C (p.Met1169Ile)
c.3174G>C (p.Met1058Ile)
c.3255G>C (p.Met1085Ile)
c.3273G>C (p.Met1091Ile)
n.3646G>C
n.3870G>C
c.2442G>C (p.Met814Ile)
c.2217G>C (p.Met739Ile)
c.3312G>C (p.Met1104Ile)
c.1285G>C
c.*608G>C (n.*608G>C)
n.4251G>C
n.2852G>C
c.3363G>C (p.Met1121Ile)
c.3411G>C (p.Met1137Ile)
c.3471G>C (p.Met1157Ile)
c.3021G>C (p.Met1007Ile)
c.1323G>C (p.Met441Ile)
c.1140G>C (p.Met380Ile)
c.3372G>C (p.Met1124Ile)
c.3324G>C (p.Met1108Ile)
c.3093G>C (p.Met1031Ile)
c.2994G>C (p.Met998Ile)
c.2175G>C (p.Met725Ile)
n.3726G>C
13g.51941130C>TCA388026279ATP7Bc.*1157G>A (n.*1157G>A)
c.*2251G>A (n.*2251G>A)
c.2886G>A (p.Met962Ile)
c.3507G>A (p.Met1169Ile)
c.3174G>A (p.Met1058Ile)
c.3255G>A (p.Met1085Ile)
c.3273G>A (p.Met1091Ile)
n.3646G>A
n.3870G>A
c.2442G>A (p.Met814Ile)
c.2217G>A (p.Met739Ile)
c.3312G>A (p.Met1104Ile)
c.1285G>A
c.*608G>A (n.*608G>A)
n.4251G>A
n.2852G>A
c.3363G>A (p.Met1121Ile)
c.3411G>A (p.Met1137Ile)
c.3471G>A (p.Met1157Ile)
c.3021G>A (p.Met1007Ile)
c.1323G>A (p.Met441Ile)
c.1140G>A (p.Met380Ile)
c.3372G>A (p.Met1124Ile)
c.3324G>A (p.Met1108Ile)
c.3093G>A (p.Met1031Ile)
c.2994G>A (p.Met998Ile)
c.2175G>A (p.Met725Ile)
n.3726G>A
 ClinVar dbSNP gnomAD v4
13g.51941130_51941132delinsCATCA2091559414ATP7Bc.*1155_*1157delinsATG (n.*1155_*1157delinsATG)
c.*2249_*2251delinsATG (n.*2249_*2251delinsATG)
c.2884_2886delinsATG (p.Met962=)
c.3505_3507delinsATG (p.Met1169=)
c.3172_3174delinsATG (p.Met1058=)
c.3253_3255delinsATG (p.Met1085=)
c.3271_3273delinsATG (p.Met1091=)
n.3644_3646delinsATG
n.3868_3870delinsATG
c.2440_2442delinsATG (p.Met814=)
c.2215_2217delinsATG (p.Met739=)
c.3310_3312delinsATG (p.Met1104=)
c.1283_1285delinsATG
c.*606_*608delinsATG (n.*606_*608delinsATG)
n.4249_4251delinsATG
n.2850_2852delinsATG
c.3361_3363delinsATG (p.Met1121=)
c.3409_3411delinsATG (p.Met1137=)
c.3469_3471delinsATG (p.Met1157=)
c.3019_3021delinsATG (p.Met1007=)
c.1321_1323delinsATG (p.Met441=)
c.1138_1140delinsATG (p.Met380=)
c.3370_3372delinsATG (p.Met1124=)
c.3322_3324delinsATG (p.Met1108=)
c.3091_3093delinsATG (p.Met1031=)
c.2992_2994delinsATG (p.Met998=)
c.2173_2175delinsATG (p.Met725=)
n.3724_3726delinsATG
13g.51941131A=CA2091559419ATP7Bc.*1156T= (n.*1156T=)
c.*2250T= (n.*2250T=)
c.2885T= (p.Met962=)
c.3506T= (p.Met1169=)
c.3173T= (p.Met1058=)
c.3254T= (p.Met1085=)
c.3272T= (p.Met1091=)
n.3645T=
n.3869T=
c.2441T= (p.Met814=)
c.2216T= (p.Met739=)
c.3311T= (p.Met1104=)
c.1284T=
c.*607T= (n.*607T=)
n.4250T=
n.2851T=
c.3362T= (p.Met1121=)
c.3410T= (p.Met1137=)
c.3470T= (p.Met1157=)
c.3020T= (p.Met1007=)
c.1322T= (p.Met441=)
c.1139T= (p.Met380=)
c.3371T= (p.Met1124=)
c.3323T= (p.Met1108=)
c.3092T= (p.Met1031=)
c.2993T= (p.Met998=)
c.2174T= (p.Met725=)
n.3725T=
13g.51941131A>CCA388026283ATP7Bc.*1156T>G (n.*1156T>G)
c.*2250T>G (n.*2250T>G)
c.2885T>G (p.Met962Arg)
c.3506T>G (p.Met1169Arg)
c.3173T>G (p.Met1058Arg)
c.3254T>G (p.Met1085Arg)
c.3272T>G (p.Met1091Arg)
n.3645T>G
n.3869T>G
c.2441T>G (p.Met814Arg)
c.2216T>G (p.Met739Arg)
c.3311T>G (p.Met1104Arg)
c.1284T>G
c.*607T>G (n.*607T>G)
n.4250T>G
n.2851T>G
c.3362T>G (p.Met1121Arg)
c.3410T>G (p.Met1137Arg)
c.3470T>G (p.Met1157Arg)
c.3020T>G (p.Met1007Arg)
c.1322T>G (p.Met441Arg)
c.1139T>G (p.Met380Arg)
c.3371T>G (p.Met1124Arg)
c.3323T>G (p.Met1108Arg)
c.3092T>G (p.Met1031Arg)
c.2993T>G (p.Met998Arg)
c.2174T>G (p.Met725Arg)
n.3725T>G
13g.51941131A>GCA388026285ATP7Bc.*1156T>C (n.*1156T>C)
c.*2250T>C (n.*2250T>C)
c.2885T>C (p.Met962Thr)
c.3506T>C (p.Met1169Thr)
c.3173T>C (p.Met1058Thr)
c.3254T>C (p.Met1085Thr)
c.3272T>C (p.Met1091Thr)
n.3645T>C
n.3869T>C
c.2441T>C (p.Met814Thr)
c.2216T>C (p.Met739Thr)
c.3311T>C (p.Met1104Thr)
c.1284T>C
c.*607T>C (n.*607T>C)
n.4250T>C
n.2851T>C
c.3362T>C (p.Met1121Thr)
c.3410T>C (p.Met1137Thr)
c.3470T>C (p.Met1157Thr)
c.3020T>C (p.Met1007Thr)
c.1322T>C (p.Met441Thr)
c.1139T>C (p.Met380Thr)
c.3371T>C (p.Met1124Thr)
c.3323T>C (p.Met1108Thr)
c.3092T>C (p.Met1031Thr)
c.2993T>C (p.Met998Thr)
c.2174T>C (p.Met725Thr)
n.3725T>C
 ClinVar dbSNP
13g.51941131A>TCA388026288ATP7Bc.*1156T>A (n.*1156T>A)
c.*2250T>A (n.*2250T>A)
c.2885T>A (p.Met962Lys)
c.3506T>A (p.Met1169Lys)
c.3173T>A (p.Met1058Lys)
c.3254T>A (p.Met1085Lys)
c.3272T>A (p.Met1091Lys)
n.3645T>A
n.3869T>A
c.2441T>A (p.Met814Lys)
c.2216T>A (p.Met739Lys)
c.3311T>A (p.Met1104Lys)
c.1284T>A
c.*607T>A (n.*607T>A)
n.4250T>A
n.2851T>A
c.3362T>A (p.Met1121Lys)
c.3410T>A (p.Met1137Lys)
c.3470T>A (p.Met1157Lys)
c.3020T>A (p.Met1007Lys)
c.1322T>A (p.Met441Lys)
c.1139T>A (p.Met380Lys)
c.3371T>A (p.Met1124Lys)
c.3323T>A (p.Met1108Lys)
c.3092T>A (p.Met1031Lys)
c.2993T>A (p.Met998Lys)
c.2174T>A (p.Met725Lys)
n.3725T>A
13g.51941132_51941133delCA609963665ATP7Bc.*1155_*1156del (n.*1155_*1156del)
c.*2249_*2250del (n.*2249_*2250del)
c.2884_2885del (p.Met962AspfsTer16)
c.3505_3506del (p.Met1169AspfsTer16)
c.3172_3173del (p.Met1058AspfsTer16)
c.3253_3254del (p.Met1085AspfsTer16)
c.3271_3272del (p.Met1091AspfsTer16)
n.3644_3645del
n.3868_3869del
c.2440_2441del (p.Met814AspfsTer16)
c.2215_2216del (p.Met739AspfsTer16)
c.3310_3311del (p.Met1104AspfsTer16)
c.1283_1284del
c.*606_*607del (n.*606_*607del)
n.4249_4250del
n.2850_2851del
c.3361_3362del (p.Met1121AspfsTer16)
c.3409_3410del (p.Met1137AspfsTer16)
c.3469_3470del (p.Met1157AspfsTer16)
c.3019_3020del (p.Met1007AspfsTer16)
c.1321_1322del (p.Met441AspfsTer16)
c.1138_1139del (p.Met380AspfsTer16)
c.3370_3371del (p.Met1124AspfsTer16)
c.3322_3323del (p.Met1108AspfsTer16)
c.3091_3092del (p.Met1031AspfsTer16)
c.2992_2993del (p.Met998AspfsTer16)
c.2173_2174del (p.Met725AspfsTer16)
n.3724_3725del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941132T>ACA388026291ATP7Bc.*1155A>T (n.*1155A>T)
c.*2249A>T (n.*2249A>T)
c.2884A>T (p.Met962Leu)
c.3505A>T (p.Met1169Leu)
c.3172A>T (p.Met1058Leu)
c.3253A>T (p.Met1085Leu)
c.3271A>T (p.Met1091Leu)
n.3644A>T
n.3868A>T
c.2440A>T (p.Met814Leu)
c.2215A>T (p.Met739Leu)
c.3310A>T (p.Met1104Leu)
c.1283A>T
c.*606A>T (n.*606A>T)
n.4249A>T
n.2850A>T
c.3361A>T (p.Met1121Leu)
c.3409A>T (p.Met1137Leu)
c.3469A>T (p.Met1157Leu)
c.3019A>T (p.Met1007Leu)
c.1321A>T (p.Met441Leu)
c.1138A>T (p.Met380Leu)
c.3370A>T (p.Met1124Leu)
c.3322A>T (p.Met1108Leu)
c.3091A>T (p.Met1031Leu)
c.2992A>T (p.Met998Leu)
c.2173A>T (p.Met725Leu)
n.3724A>T
13g.51941132T>CCA277193ATP7Bc.*1155A>G (n.*1155A>G)
c.*2249A>G (n.*2249A>G)
c.2884A>G (p.Met962Val)
c.3505A>G (p.Met1169Val)
c.3172A>G (p.Met1058Val)
c.3253A>G (p.Met1085Val)
c.3271A>G (p.Met1091Val)
n.3644A>G
n.3868A>G
c.2440A>G (p.Met814Val)
c.2215A>G (p.Met739Val)
c.3310A>G (p.Met1104Val)
c.1283A>G
c.*606A>G (n.*606A>G)
n.4249A>G
n.2850A>G
c.3361A>G (p.Met1121Val)
c.3409A>G (p.Met1137Val)
c.3469A>G (p.Met1157Val)
c.3019A>G (p.Met1007Val)
c.1321A>G (p.Met441Val)
c.1138A>G (p.Met380Val)
c.3370A>G (p.Met1124Val)
c.3322A>G (p.Met1108Val)
c.3091A>G (p.Met1031Val)
c.2992A>G (p.Met998Val)
c.2173A>G (p.Met725Val)
n.3724A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941132T>GCA388026299ATP7Bc.*1155A>C (n.*1155A>C)
c.*2249A>C (n.*2249A>C)
c.2884A>C (p.Met962Leu)
c.3505A>C (p.Met1169Leu)
c.3172A>C (p.Met1058Leu)
c.3253A>C (p.Met1085Leu)
c.3271A>C (p.Met1091Leu)
n.3644A>C
n.3868A>C
c.2440A>C (p.Met814Leu)
c.2215A>C (p.Met739Leu)
c.3310A>C (p.Met1104Leu)
c.1283A>C
c.*606A>C (n.*606A>C)
n.4249A>C
n.2850A>C
c.3361A>C (p.Met1121Leu)
c.3409A>C (p.Met1137Leu)
c.3469A>C (p.Met1157Leu)
c.3019A>C (p.Met1007Leu)
c.1321A>C (p.Met441Leu)
c.1138A>C (p.Met380Leu)
c.3370A>C (p.Met1124Leu)
c.3322A>C (p.Met1108Leu)
c.3091A>C (p.Met1031Leu)
c.2992A>C (p.Met998Leu)
c.2173A>C (p.Met725Leu)
n.3724A>C
 gnomAD v4
13g.51941132T=CA2091559428ATP7Bc.*1155A= (n.*1155A=)
c.*2249A= (n.*2249A=)
c.2884A= (p.Met962=)
c.3505A= (p.Met1169=)
c.3172A= (p.Met1058=)
c.3253A= (p.Met1085=)
c.3271A= (p.Met1091=)
n.3644A=
n.3868A=
c.2440A= (p.Met814=)
c.2215A= (p.Met739=)
c.3310A= (p.Met1104=)
c.1283A=
c.*606A= (n.*606A=)
n.4249A=
n.2850A=
c.3361A= (p.Met1121=)
c.3409A= (p.Met1137=)
c.3469A= (p.Met1157=)
c.3019A= (p.Met1007=)
c.1321A= (p.Met441=)
c.1138A= (p.Met380=)
c.3370A= (p.Met1124=)
c.3322A= (p.Met1108=)
c.3091A= (p.Met1031=)
c.2992A= (p.Met998=)
c.2173A= (p.Met725=)
n.3724A=
13g.51941133A=CA2091559435ATP7Bc.*1154T= (n.*1154T=)
c.*2248T= (n.*2248T=)
c.2883T= (p.Ala961=)
c.3504T= (p.Ala1168=)
c.3171T= (p.Ala1057=)
c.3252T= (p.Ala1084=)
c.3270T= (p.Ala1090=)
n.3643T=
n.3867T=
c.2439T= (p.Ala813=)
c.2214T= (p.Ala738=)
c.3309T= (p.Ala1103=)
c.1282T=
c.*605T= (n.*605T=)
n.4248T=
n.2849T=
c.3360T= (p.Ala1120=)
c.3408T= (p.Ala1136=)
c.3468T= (p.Ala1156=)
c.3018T= (p.Ala1006=)
c.1320T= (p.Ala440=)
c.1137T= (p.Ala379=)
c.3369T= (p.Ala1123=)
c.3321T= (p.Ala1107=)
c.3090T= (p.Ala1030=)
c.2991T= (p.Ala997=)
c.2172T= (p.Ala724=)
n.3723T=
13g.51941133A>CCA483893950ATP7Bc.*1154T>G (n.*1154T>G)
c.*2248T>G (n.*2248T>G)
c.2883T>G (p.Ala961=)
c.3504T>G (p.Ala1168=)
c.3171T>G (p.Ala1057=)
c.3252T>G (p.Ala1084=)
c.3270T>G (p.Ala1090=)
n.3643T>G
n.3867T>G
c.2439T>G (p.Ala813=)
c.2214T>G (p.Ala738=)
c.3309T>G (p.Ala1103=)
c.1282T>G
c.*605T>G (n.*605T>G)
n.4248T>G
n.2849T>G
c.3360T>G (p.Ala1120=)
c.3408T>G (p.Ala1136=)
c.3468T>G (p.Ala1156=)
c.3018T>G (p.Ala1006=)
c.1320T>G (p.Ala440=)
c.1137T>G (p.Ala379=)
c.3369T>G (p.Ala1123=)
c.3321T>G (p.Ala1107=)
c.3090T>G (p.Ala1030=)
c.2991T>G (p.Ala997=)
c.2172T>G (p.Ala724=)
n.3723T>G
13g.51941133A>GCA483893951ATP7Bc.*1154T>C (n.*1154T>C)
c.*2248T>C (n.*2248T>C)
c.2883T>C (p.Ala961=)
c.3504T>C (p.Ala1168=)
c.3171T>C (p.Ala1057=)
c.3252T>C (p.Ala1084=)
c.3270T>C (p.Ala1090=)
n.3643T>C
n.3867T>C
c.2439T>C (p.Ala813=)
c.2214T>C (p.Ala738=)
c.3309T>C (p.Ala1103=)
c.1282T>C
c.*605T>C (n.*605T>C)
n.4248T>C
n.2849T>C
c.3360T>C (p.Ala1120=)
c.3408T>C (p.Ala1136=)
c.3468T>C (p.Ala1156=)
c.3018T>C (p.Ala1006=)
c.1320T>C (p.Ala440=)
c.1137T>C (p.Ala379=)
c.3369T>C (p.Ala1123=)
c.3321T>C (p.Ala1107=)
c.3090T>C (p.Ala1030=)
c.2991T>C (p.Ala997=)
c.2172T>C (p.Ala724=)
n.3723T>C
 ClinVar gnomAD v4
13g.51941133A>TCA6988670ATP7Bc.*1154T>A (n.*1154T>A)
c.*2248T>A (n.*2248T>A)
c.2883T>A (p.Ala961=)
c.3504T>A (p.Ala1168=)
c.3171T>A (p.Ala1057=)
c.3252T>A (p.Ala1084=)
c.3270T>A (p.Ala1090=)
n.3643T>A
n.3867T>A
c.2439T>A (p.Ala813=)
c.2214T>A (p.Ala738=)
c.3309T>A (p.Ala1103=)
c.1282T>A
c.*605T>A (n.*605T>A)
n.4248T>A
n.2849T>A
c.3360T>A (p.Ala1120=)
c.3408T>A (p.Ala1136=)
c.3468T>A (p.Ala1156=)
c.3018T>A (p.Ala1006=)
c.1320T>A (p.Ala440=)
c.1137T>A (p.Ala379=)
c.3369T>A (p.Ala1123=)
c.3321T>A (p.Ala1107=)
c.3090T>A (p.Ala1030=)
c.2991T>A (p.Ala997=)
c.2172T>A (p.Ala724=)
n.3723T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941134G>ACA388026307ATP7Bc.*1153C>T (n.*1153C>T)
c.*2247C>T (n.*2247C>T)
c.2882C>T (p.Ala961Val)
c.3503C>T (p.Ala1168Val)
c.3170C>T (p.Ala1057Val)
c.3251C>T (p.Ala1084Val)
c.3269C>T (p.Ala1090Val)
n.3642C>T
n.3866C>T
c.2438C>T (p.Ala813Val)
c.2213C>T (p.Ala738Val)
c.3308C>T (p.Ala1103Val)
c.1281C>T
c.*604C>T (n.*604C>T)
n.4247C>T
n.2848C>T
c.3359C>T (p.Ala1120Val)
c.3407C>T (p.Ala1136Val)
c.3467C>T (p.Ala1156Val)
c.3017C>T (p.Ala1006Val)
c.1319C>T (p.Ala440Val)
c.1136C>T (p.Ala379Val)
c.3368C>T (p.Ala1123Val)
c.3320C>T (p.Ala1107Val)
c.3089C>T (p.Ala1030Val)
c.2990C>T (p.Ala997Val)
c.2171C>T (p.Ala724Val)
n.3722C>T
13g.51941134G>CCA388026305ATP7Bc.*1153C>G (n.*1153C>G)
c.*2247C>G (n.*2247C>G)
c.2882C>G (p.Ala961Gly)
c.3503C>G (p.Ala1168Gly)
c.3170C>G (p.Ala1057Gly)
c.3251C>G (p.Ala1084Gly)
c.3269C>G (p.Ala1090Gly)
n.3642C>G
n.3866C>G
c.2438C>G (p.Ala813Gly)
c.2213C>G (p.Ala738Gly)
c.3308C>G (p.Ala1103Gly)
c.1281C>G
c.*604C>G (n.*604C>G)
n.4247C>G
n.2848C>G
c.3359C>G (p.Ala1120Gly)
c.3407C>G (p.Ala1136Gly)
c.3467C>G (p.Ala1156Gly)
c.3017C>G (p.Ala1006Gly)
c.1319C>G (p.Ala440Gly)
c.1136C>G (p.Ala379Gly)
c.3368C>G (p.Ala1123Gly)
c.3320C>G (p.Ala1107Gly)
c.3089C>G (p.Ala1030Gly)
c.2990C>G (p.Ala997Gly)
c.2171C>G (p.Ala724Gly)
n.3722C>G
13g.51941134G>TCA388026303ATP7Bc.*1153C>A (n.*1153C>A)
c.*2247C>A (n.*2247C>A)
c.2882C>A (p.Ala961Asp)
c.3503C>A (p.Ala1168Asp)
c.3170C>A (p.Ala1057Asp)
c.3251C>A (p.Ala1084Asp)
c.3269C>A (p.Ala1090Asp)
n.3642C>A
n.3866C>A
c.2438C>A (p.Ala813Asp)
c.2213C>A (p.Ala738Asp)
c.3308C>A (p.Ala1103Asp)
c.1281C>A
c.*604C>A (n.*604C>A)
n.4247C>A
n.2848C>A
c.3359C>A (p.Ala1120Asp)
c.3407C>A (p.Ala1136Asp)
c.3467C>A (p.Ala1156Asp)
c.3017C>A (p.Ala1006Asp)
c.1319C>A (p.Ala440Asp)
c.1136C>A (p.Ala379Asp)
c.3368C>A (p.Ala1123Asp)
c.3320C>A (p.Ala1107Asp)
c.3089C>A (p.Ala1030Asp)
c.2990C>A (p.Ala997Asp)
c.2171C>A (p.Ala724Asp)
n.3722C>A
 gnomAD v4
13g.51941135C>ACA6988672ATP7Bc.*1152G>T (n.*1152G>T)
c.*2246G>T (n.*2246G>T)
c.2881G>T (p.Ala961Ser)
c.3502G>T (p.Ala1168Ser)
c.3169G>T (p.Ala1057Ser)
c.3250G>T (p.Ala1084Ser)
c.3268G>T (p.Ala1090Ser)
n.3641G>T
n.3865G>T
c.2437G>T (p.Ala813Ser)
c.2212G>T (p.Ala738Ser)
c.3307G>T (p.Ala1103Ser)
c.1280G>T
c.*603G>T (n.*603G>T)
n.4246G>T
n.2847G>T
c.3358G>T (p.Ala1120Ser)
c.3406G>T (p.Ala1136Ser)
c.3466G>T (p.Ala1156Ser)
c.3016G>T (p.Ala1006Ser)
c.1318G>T (p.Ala440Ser)
c.1135G>T (p.Ala379Ser)
c.3367G>T (p.Ala1123Ser)
c.3319G>T (p.Ala1107Ser)
c.3088G>T (p.Ala1030Ser)
c.2989G>T (p.Ala997Ser)
c.2170G>T (p.Ala724Ser)
n.3721G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941135C=CA2091559442ATP7Bc.*1152G= (n.*1152G=)
c.*2246G= (n.*2246G=)
c.2881G= (p.Ala961=)
c.3502G= (p.Ala1168=)
c.3169G= (p.Ala1057=)
c.3250G= (p.Ala1084=)
c.3268G= (p.Ala1090=)
n.3641G=
n.3865G=
c.2437G= (p.Ala813=)
c.2212G= (p.Ala738=)
c.3307G= (p.Ala1103=)
c.1280G=
c.*603G= (n.*603G=)
n.4246G=
n.2847G=
c.3358G= (p.Ala1120=)
c.3406G= (p.Ala1136=)
c.3466G= (p.Ala1156=)
c.3016G= (p.Ala1006=)
c.1318G= (p.Ala440=)
c.1135G= (p.Ala379=)
c.3367G= (p.Ala1123=)
c.3319G= (p.Ala1107=)
c.3088G= (p.Ala1030=)
c.2989G= (p.Ala997=)
c.2170G= (p.Ala724=)
n.3721G=
13g.51941135C>GCA388026312ATP7Bc.*1152G>C (n.*1152G>C)
c.*2246G>C (n.*2246G>C)
c.2881G>C (p.Ala961Pro)
c.3502G>C (p.Ala1168Pro)
c.3169G>C (p.Ala1057Pro)
c.3250G>C (p.Ala1084Pro)
c.3268G>C (p.Ala1090Pro)
n.3641G>C
n.3865G>C
c.2437G>C (p.Ala813Pro)
c.2212G>C (p.Ala738Pro)
c.3307G>C (p.Ala1103Pro)
c.1280G>C
c.*603G>C (n.*603G>C)
n.4246G>C
n.2847G>C
c.3358G>C (p.Ala1120Pro)
c.3406G>C (p.Ala1136Pro)
c.3466G>C (p.Ala1156Pro)
c.3016G>C (p.Ala1006Pro)
c.1318G>C (p.Ala440Pro)
c.1135G>C (p.Ala379Pro)
c.3367G>C (p.Ala1123Pro)
c.3319G>C (p.Ala1107Pro)
c.3088G>C (p.Ala1030Pro)
c.2989G>C (p.Ala997Pro)
c.2170G>C (p.Ala724Pro)
n.3721G>C
13g.51941135C>TCA6988671ATP7Bc.*1152G>A (n.*1152G>A)
c.*2246G>A (n.*2246G>A)
c.2881G>A (p.Ala961Thr)
c.3502G>A (p.Ala1168Thr)
c.3169G>A (p.Ala1057Thr)
c.3250G>A (p.Ala1084Thr)
c.3268G>A (p.Ala1090Thr)
n.3641G>A
n.3865G>A
c.2437G>A (p.Ala813Thr)
c.2212G>A (p.Ala738Thr)
c.3307G>A (p.Ala1103Thr)
c.1280G>A
c.*603G>A (n.*603G>A)
n.4246G>A
n.2847G>A
c.3358G>A (p.Ala1120Thr)
c.3406G>A (p.Ala1136Thr)
c.3466G>A (p.Ala1156Thr)
c.3016G>A (p.Ala1006Thr)
c.1318G>A (p.Ala440Thr)
c.1135G>A (p.Ala379Thr)
c.3367G>A (p.Ala1123Thr)
c.3319G>A (p.Ala1107Thr)
c.3088G>A (p.Ala1030Thr)
c.2989G>A (p.Ala997Thr)
c.2170G>A (p.Ala724Thr)
n.3721G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941136G>ACA6988673ATP7Bc.*1151C>T (n.*1151C>T)
c.*2245C>T (n.*2245C>T)
c.2880C>T (p.Asp960=)
c.3501C>T (p.Asp1167=)
c.3168C>T (p.Asp1056=)
c.3249C>T (p.Asp1083=)
c.3267C>T (p.Asp1089=)
n.3640C>T
n.3864C>T
c.2436C>T (p.Asp812=)
c.2211C>T (p.Asp737=)
c.3306C>T (p.Asp1102=)
c.1279C>T
c.*602C>T (n.*602C>T)
n.4245C>T
n.2846C>T
c.3357C>T (p.Asp1119=)
c.3405C>T (p.Asp1135=)
c.3465C>T (p.Asp1155=)
c.3015C>T (p.Asp1005=)
c.1317C>T (p.Asp439=)
c.1134C>T (p.Asp378=)
c.3366C>T (p.Asp1122=)
c.3318C>T (p.Asp1106=)
c.3087C>T (p.Asp1029=)
c.2988C>T (p.Asp996=)
c.2169C>T (p.Asp723=)
n.3720C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941136G>CCA388026317ATP7Bc.*1151C>G (n.*1151C>G)
c.*2245C>G (n.*2245C>G)
c.2880C>G (p.Asp960Glu)
c.3501C>G (p.Asp1167Glu)
c.3168C>G (p.Asp1056Glu)
c.3249C>G (p.Asp1083Glu)
c.3267C>G (p.Asp1089Glu)
n.3640C>G
n.3864C>G
c.2436C>G (p.Asp812Glu)
c.2211C>G (p.Asp737Glu)
c.3306C>G (p.Asp1102Glu)
c.1279C>G
c.*602C>G (n.*602C>G)
n.4245C>G
n.2846C>G
c.3357C>G (p.Asp1119Glu)
c.3405C>G (p.Asp1135Glu)
c.3465C>G (p.Asp1155Glu)
c.3015C>G (p.Asp1005Glu)
c.1317C>G (p.Asp439Glu)
c.1134C>G (p.Asp378Glu)
c.3366C>G (p.Asp1122Glu)
c.3318C>G (p.Asp1106Glu)
c.3087C>G (p.Asp1029Glu)
c.2988C>G (p.Asp996Glu)
c.2169C>G (p.Asp723Glu)
n.3720C>G
13g.51941136G=CA2091559445ATP7Bc.*1151C= (n.*1151C=)
c.*2245C= (n.*2245C=)
c.2880C= (p.Asp960=)
c.3501C= (p.Asp1167=)
c.3168C= (p.Asp1056=)
c.3249C= (p.Asp1083=)
c.3267C= (p.Asp1089=)
n.3640C=
n.3864C=
c.2436C= (p.Asp812=)
c.2211C= (p.Asp737=)
c.3306C= (p.Asp1102=)
c.1279C=
c.*602C= (n.*602C=)
n.4245C=
n.2846C=
c.3357C= (p.Asp1119=)
c.3405C= (p.Asp1135=)
c.3465C= (p.Asp1155=)
c.3015C= (p.Asp1005=)
c.1317C= (p.Asp439=)
c.1134C= (p.Asp378=)
c.3366C= (p.Asp1122=)
c.3318C= (p.Asp1106=)
c.3087C= (p.Asp1029=)
c.2988C= (p.Asp996=)
c.2169C= (p.Asp723=)
n.3720C=
13g.51941136G>TCA388026319ATP7Bc.*1151C>A (n.*1151C>A)
c.*2245C>A (n.*2245C>A)
c.2880C>A (p.Asp960Glu)
c.3501C>A (p.Asp1167Glu)
c.3168C>A (p.Asp1056Glu)
c.3249C>A (p.Asp1083Glu)
c.3267C>A (p.Asp1089Glu)
n.3640C>A
n.3864C>A
c.2436C>A (p.Asp812Glu)
c.2211C>A (p.Asp737Glu)
c.3306C>A (p.Asp1102Glu)
c.1279C>A
c.*602C>A (n.*602C>A)
n.4245C>A
n.2846C>A
c.3357C>A (p.Asp1119Glu)
c.3405C>A (p.Asp1135Glu)
c.3465C>A (p.Asp1155Glu)
c.3015C>A (p.Asp1005Glu)
c.1317C>A (p.Asp439Glu)
c.1134C>A (p.Asp378Glu)
c.3366C>A (p.Asp1122Glu)
c.3318C>A (p.Asp1106Glu)
c.3087C>A (p.Asp1029Glu)
c.2988C>A (p.Asp996Glu)
c.2169C>A (p.Asp723Glu)
n.3720C>A
13g.51941137T>ACA388026323ATP7Bc.*1150A>T (n.*1150A>T)
c.*2244A>T (n.*2244A>T)
c.2879A>T (p.Asp960Val)
c.3500A>T (p.Asp1167Val)
c.3167A>T (p.Asp1056Val)
c.3248A>T (p.Asp1083Val)
c.3266A>T (p.Asp1089Val)
n.3639A>T
n.3863A>T
c.2435A>T (p.Asp812Val)
c.2210A>T (p.Asp737Val)
c.3305A>T (p.Asp1102Val)
c.1278A>T
c.*601A>T (n.*601A>T)
n.4244A>T
n.2845A>T
c.3356A>T (p.Asp1119Val)
c.3404A>T (p.Asp1135Val)
c.3464A>T (p.Asp1155Val)
c.3014A>T (p.Asp1005Val)
c.1316A>T (p.Asp439Val)
c.1133A>T (p.Asp378Val)
c.3365A>T (p.Asp1122Val)
c.3317A>T (p.Asp1106Val)
c.3086A>T (p.Asp1029Val)
c.2987A>T (p.Asp996Val)
c.2168A>T (p.Asp723Val)
n.3719A>T
13g.51941137T>CCA388026326ATP7Bc.*1150A>G (n.*1150A>G)
c.*2244A>G (n.*2244A>G)
c.2879A>G (p.Asp960Gly)
c.3500A>G (p.Asp1167Gly)
c.3167A>G (p.Asp1056Gly)
c.3248A>G (p.Asp1083Gly)
c.3266A>G (p.Asp1089Gly)
n.3639A>G
n.3863A>G
c.2435A>G (p.Asp812Gly)
c.2210A>G (p.Asp737Gly)
c.3305A>G (p.Asp1102Gly)
c.1278A>G
c.*601A>G (n.*601A>G)
n.4244A>G
n.2845A>G
c.3356A>G (p.Asp1119Gly)
c.3404A>G (p.Asp1135Gly)
c.3464A>G (p.Asp1155Gly)
c.3014A>G (p.Asp1005Gly)
c.1316A>G (p.Asp439Gly)
c.1133A>G (p.Asp378Gly)
c.3365A>G (p.Asp1122Gly)
c.3317A>G (p.Asp1106Gly)
c.3086A>G (p.Asp1029Gly)
c.2987A>G (p.Asp996Gly)
c.2168A>G (p.Asp723Gly)
n.3719A>G
13g.51941137T>GCA388026332ATP7Bc.*1150A>C (n.*1150A>C)
c.*2244A>C (n.*2244A>C)
c.2879A>C (p.Asp960Ala)
c.3500A>C (p.Asp1167Ala)
c.3167A>C (p.Asp1056Ala)
c.3248A>C (p.Asp1083Ala)
c.3266A>C (p.Asp1089Ala)
n.3639A>C
n.3863A>C
c.2435A>C (p.Asp812Ala)
c.2210A>C (p.Asp737Ala)
c.3305A>C (p.Asp1102Ala)
c.1278A>C
c.*601A>C (n.*601A>C)
n.4244A>C
n.2845A>C
c.3356A>C (p.Asp1119Ala)
c.3404A>C (p.Asp1135Ala)
c.3464A>C (p.Asp1155Ala)
c.3014A>C (p.Asp1005Ala)
c.1316A>C (p.Asp439Ala)
c.1133A>C (p.Asp378Ala)
c.3365A>C (p.Asp1122Ala)
c.3317A>C (p.Asp1106Ala)
c.3086A>C (p.Asp1029Ala)
c.2987A>C (p.Asp996Ala)
c.2168A>C (p.Asp723Ala)
n.3719A>C
13g.51941138C>ACA388026334ATP7Bc.*1149G>T (n.*1149G>T)
c.*2243G>T (n.*2243G>T)
c.2878G>T (p.Asp960Tyr)
c.3499G>T (p.Asp1167Tyr)
c.3166G>T (p.Asp1056Tyr)
c.3247G>T (p.Asp1083Tyr)
c.3265G>T (p.Asp1089Tyr)
n.3638G>T
n.3862G>T
c.2434G>T (p.Asp812Tyr)
c.2209G>T (p.Asp737Tyr)
c.3304G>T (p.Asp1102Tyr)
c.1277G>T
c.*600G>T (n.*600G>T)
n.4243G>T
n.2844G>T
c.3355G>T (p.Asp1119Tyr)
c.3403G>T (p.Asp1135Tyr)
c.3463G>T (p.Asp1155Tyr)
c.3013G>T (p.Asp1005Tyr)
c.1315G>T (p.Asp439Tyr)
c.1132G>T (p.Asp378Tyr)
c.3364G>T (p.Asp1122Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3085G>T (p.Asp1029Tyr)
c.2986G>T (p.Asp996Tyr)
c.2167G>T (p.Asp723Tyr)
n.3718G>T
13g.51941138C>GCA388026336ATP7Bc.*1149G>C (n.*1149G>C)
c.*2243G>C (n.*2243G>C)
c.2878G>C (p.Asp960His)
c.3499G>C (p.Asp1167His)
c.3166G>C (p.Asp1056His)
c.3247G>C (p.Asp1083His)
c.3265G>C (p.Asp1089His)
n.3638G>C
n.3862G>C
c.2434G>C (p.Asp812His)
c.2209G>C (p.Asp737His)
c.3304G>C (p.Asp1102His)
c.1277G>C
c.*600G>C (n.*600G>C)
n.4243G>C
n.2844G>C
c.3355G>C (p.Asp1119His)
c.3403G>C (p.Asp1135His)
c.3463G>C (p.Asp1155His)
c.3013G>C (p.Asp1005His)
c.1315G>C (p.Asp439His)
c.1132G>C (p.Asp378His)
c.3364G>C (p.Asp1122His)
c.3316G>C (p.Asp1106His)
c.3085G>C (p.Asp1029His)
c.2986G>C (p.Asp996His)
c.2167G>C (p.Asp723His)
n.3718G>C
13g.51941138C>TCA388026338ATP7Bc.*1149G>A (n.*1149G>A)
c.*2243G>A (n.*2243G>A)
c.2878G>A (p.Asp960Asn)
c.3499G>A (p.Asp1167Asn)
c.3166G>A (p.Asp1056Asn)
c.3247G>A (p.Asp1083Asn)
c.3265G>A (p.Asp1089Asn)
n.3638G>A
n.3862G>A
c.2434G>A (p.Asp812Asn)
c.2209G>A (p.Asp737Asn)
c.3304G>A (p.Asp1102Asn)
c.1277G>A
c.*600G>A (n.*600G>A)
n.4243G>A
n.2844G>A
c.3355G>A (p.Asp1119Asn)
c.3403G>A (p.Asp1135Asn)
c.3463G>A (p.Asp1155Asn)
c.3013G>A (p.Asp1005Asn)
c.1315G>A (p.Asp439Asn)
c.1132G>A (p.Asp378Asn)
c.3364G>A (p.Asp1122Asn)
c.3316G>A (p.Asp1106Asn)
c.3085G>A (p.Asp1029Asn)
c.2986G>A (p.Asp996Asn)
c.2167G>A (p.Asp723Asn)
n.3718G>A
13g.51941139A=CA2091559450ATP7Bc.*1148T= (n.*1148T=)
c.*2242T= (n.*2242T=)
c.2877T= (p.Ser959=)
c.3498T= (p.Ser1166=)
c.3165T= (p.Ser1055=)
c.3246T= (p.Ser1082=)
c.3264T= (p.Ser1088=)
n.3637T=
n.3861T=
c.2433T= (p.Ser811=)
c.2208T= (p.Ser736=)
c.3303T= (p.Ser1101=)
c.1276T=
c.*599T= (n.*599T=)
n.4242T=
n.2843T=
c.3354T= (p.Ser1118=)
c.3402T= (p.Ser1134=)
c.3462T= (p.Ser1154=)
c.3012T= (p.Ser1004=)
c.1314T= (p.Ser438=)
c.1131T= (p.Ser377=)
c.3363T= (p.Ser1121=)
c.3315T= (p.Ser1105=)
c.3084T= (p.Ser1028=)
c.2985T= (p.Ser995=)
c.2166T= (p.Ser722=)
n.3717T=
13g.51941139A>CCA388026352ATP7Bc.*1148T>G (n.*1148T>G)
c.*2242T>G (n.*2242T>G)
c.2877T>G (p.Ser959Arg)
c.3498T>G (p.Ser1166Arg)
c.3165T>G (p.Ser1055Arg)
c.3246T>G (p.Ser1082Arg)
c.3264T>G (p.Ser1088Arg)
n.3637T>G
n.3861T>G
c.2433T>G (p.Ser811Arg)
c.2208T>G (p.Ser736Arg)
c.3303T>G (p.Ser1101Arg)
c.1276T>G
c.*599T>G (n.*599T>G)
n.4242T>G
n.2843T>G
c.3354T>G (p.Ser1118Arg)
c.3402T>G (p.Ser1134Arg)
c.3462T>G (p.Ser1154Arg)
c.3012T>G (p.Ser1004Arg)
c.1314T>G (p.Ser438Arg)
c.1131T>G (p.Ser377Arg)
c.3363T>G (p.Ser1121Arg)
c.3315T>G (p.Ser1105Arg)
c.3084T>G (p.Ser1028Arg)
c.2985T>G (p.Ser995Arg)
c.2166T>G (p.Ser722Arg)
n.3717T>G
13g.51941139A>GCA171319ATP7Bc.*1148T>C (n.*1148T>C)
c.*2242T>C (n.*2242T>C)
c.2877T>C (p.Ser959=)
c.3498T>C (p.Ser1166=)
c.3165T>C (p.Ser1055=)
c.3246T>C (p.Ser1082=)
c.3264T>C (p.Ser1088=)
n.3637T>C
n.3861T>C
c.2433T>C (p.Ser811=)
c.2208T>C (p.Ser736=)
c.3303T>C (p.Ser1101=)
c.1276T>C
c.*599T>C (n.*599T>C)
n.4242T>C
n.2843T>C
c.3354T>C (p.Ser1118=)
c.3402T>C (p.Ser1134=)
c.3462T>C (p.Ser1154=)
c.3012T>C (p.Ser1004=)
c.1314T>C (p.Ser438=)
c.1131T>C (p.Ser377=)
c.3363T>C (p.Ser1121=)
c.3315T>C (p.Ser1105=)
c.3084T>C (p.Ser1028=)
c.2985T>C (p.Ser995=)
c.2166T>C (p.Ser722=)
n.3717T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941139A>TCA388026349ATP7Bc.*1148T>A (n.*1148T>A)
c.*2242T>A (n.*2242T>A)
c.2877T>A (p.Ser959Arg)
c.3498T>A (p.Ser1166Arg)
c.3165T>A (p.Ser1055Arg)
c.3246T>A (p.Ser1082Arg)
c.3264T>A (p.Ser1088Arg)
n.3637T>A
n.3861T>A
c.2433T>A (p.Ser811Arg)
c.2208T>A (p.Ser736Arg)
c.3303T>A (p.Ser1101Arg)
c.1276T>A
c.*599T>A (n.*599T>A)
n.4242T>A
n.2843T>A
c.3354T>A (p.Ser1118Arg)
c.3402T>A (p.Ser1134Arg)
c.3462T>A (p.Ser1154Arg)
c.3012T>A (p.Ser1004Arg)
c.1314T>A (p.Ser438Arg)
c.1131T>A (p.Ser377Arg)
c.3363T>A (p.Ser1121Arg)
c.3315T>A (p.Ser1105Arg)
c.3084T>A (p.Ser1028Arg)
c.2985T>A (p.Ser995Arg)
c.2166T>A (p.Ser722Arg)
n.3717T>A
13g.51941140C>ACA388026356ATP7Bc.*1147G>T (n.*1147G>T)
c.*2241G>T (n.*2241G>T)
c.2876G>T (p.Ser959Ile)
c.3497G>T (p.Ser1166Ile)
c.3164G>T (p.Ser1055Ile)
c.3245G>T (p.Ser1082Ile)
c.3263G>T (p.Ser1088Ile)
n.3636G>T
n.3860G>T
c.2432G>T (p.Ser811Ile)
c.2207G>T (p.Ser736Ile)
c.3302G>T (p.Ser1101Ile)
c.1275G>T
c.*598G>T (n.*598G>T)
n.4241G>T
n.2842G>T
c.3353G>T (p.Ser1118Ile)
c.3401G>T (p.Ser1134Ile)
c.3461G>T (p.Ser1154Ile)
c.3011G>T (p.Ser1004Ile)
c.1313G>T (p.Ser438Ile)
c.1130G>T (p.Ser377Ile)
c.3362G>T (p.Ser1121Ile)
c.3314G>T (p.Ser1105Ile)
c.3083G>T (p.Ser1028Ile)
c.2984G>T (p.Ser995Ile)
c.2165G>T (p.Ser722Ile)
n.3716G>T
 dbSNP gnomAD v2
13g.51941140C=CA2091559453ATP7Bc.*1147G= (n.*1147G=)
c.*2241G= (n.*2241G=)
c.2876G= (p.Ser959=)
c.3497G= (p.Ser1166=)
c.3164G= (p.Ser1055=)
c.3245G= (p.Ser1082=)
c.3263G= (p.Ser1088=)
n.3636G=
n.3860G=
c.2432G= (p.Ser811=)
c.2207G= (p.Ser736=)
c.3302G= (p.Ser1101=)
c.1275G=
c.*598G= (n.*598G=)
n.4241G=
n.2842G=
c.3353G= (p.Ser1118=)
c.3401G= (p.Ser1134=)
c.3461G= (p.Ser1154=)
c.3011G= (p.Ser1004=)
c.1313G= (p.Ser438=)
c.1130G= (p.Ser377=)
c.3362G= (p.Ser1121=)
c.3314G= (p.Ser1105=)
c.3083G= (p.Ser1028=)
c.2984G= (p.Ser995=)
c.2165G= (p.Ser722=)
n.3716G=
13g.51941140C>GCA388026357ATP7Bc.*1147G>C (n.*1147G>C)
c.*2241G>C (n.*2241G>C)
c.2876G>C (p.Ser959Thr)
c.3497G>C (p.Ser1166Thr)
c.3164G>C (p.Ser1055Thr)
c.3245G>C (p.Ser1082Thr)
c.3263G>C (p.Ser1088Thr)
n.3636G>C
n.3860G>C
c.2432G>C (p.Ser811Thr)
c.2207G>C (p.Ser736Thr)
c.3302G>C (p.Ser1101Thr)
c.1275G>C
c.*598G>C (n.*598G>C)
n.4241G>C
n.2842G>C
c.3353G>C (p.Ser1118Thr)
c.3401G>C (p.Ser1134Thr)
c.3461G>C (p.Ser1154Thr)
c.3011G>C (p.Ser1004Thr)
c.1313G>C (p.Ser438Thr)
c.1130G>C (p.Ser377Thr)
c.3362G>C (p.Ser1121Thr)
c.3314G>C (p.Ser1105Thr)
c.3083G>C (p.Ser1028Thr)
c.2984G>C (p.Ser995Thr)
c.2165G>C (p.Ser722Thr)
n.3716G>C
13g.51941140C>TCA388026360ATP7Bc.*1147G>A (n.*1147G>A)
c.*2241G>A (n.*2241G>A)
c.2876G>A (p.Ser959Asn)
c.3497G>A (p.Ser1166Asn)
c.3164G>A (p.Ser1055Asn)
c.3245G>A (p.Ser1082Asn)
c.3263G>A (p.Ser1088Asn)
n.3636G>A
n.3860G>A
c.2432G>A (p.Ser811Asn)
c.2207G>A (p.Ser736Asn)
c.3302G>A (p.Ser1101Asn)
c.1275G>A
c.*598G>A (n.*598G>A)
n.4241G>A
n.2842G>A
c.3353G>A (p.Ser1118Asn)
c.3401G>A (p.Ser1134Asn)
c.3461G>A (p.Ser1154Asn)
c.3011G>A (p.Ser1004Asn)
c.1313G>A (p.Ser438Asn)
c.1130G>A (p.Ser377Asn)
c.3362G>A (p.Ser1121Asn)
c.3314G>A (p.Ser1105Asn)
c.3083G>A (p.Ser1028Asn)
c.2984G>A (p.Ser995Asn)
c.2165G>A (p.Ser722Asn)
n.3716G>A
13g.51941141T>ACA388026363ATP7Bc.*1146A>T (n.*1146A>T)
c.*2240A>T (n.*2240A>T)
c.2875A>T (p.Ser959Cys)
c.3496A>T (p.Ser1166Cys)
c.3163A>T (p.Ser1055Cys)
c.3244A>T (p.Ser1082Cys)
c.3262A>T (p.Ser1088Cys)
n.3635A>T
n.3859A>T
c.2431A>T (p.Ser811Cys)
c.2206A>T (p.Ser736Cys)
c.3301A>T (p.Ser1101Cys)
c.1274A>T
c.*597A>T (n.*597A>T)
n.4240A>T
n.2841A>T
c.3352A>T (p.Ser1118Cys)
c.3400A>T (p.Ser1134Cys)
c.3460A>T (p.Ser1154Cys)
c.3010A>T (p.Ser1004Cys)
c.1312A>T (p.Ser438Cys)
c.1129A>T (p.Ser377Cys)
c.3361A>T (p.Ser1121Cys)
c.3313A>T (p.Ser1105Cys)
c.3082A>T (p.Ser1028Cys)
c.2983A>T (p.Ser995Cys)
c.2164A>T (p.Ser722Cys)
n.3715A>T
13g.51941141T>CCA388026368ATP7Bc.*1146A>G (n.*1146A>G)
c.*2240A>G (n.*2240A>G)
c.2875A>G (p.Ser959Gly)
c.3496A>G (p.Ser1166Gly)
c.3163A>G (p.Ser1055Gly)
c.3244A>G (p.Ser1082Gly)
c.3262A>G (p.Ser1088Gly)
n.3635A>G
n.3859A>G
c.2431A>G (p.Ser811Gly)
c.2206A>G (p.Ser736Gly)
c.3301A>G (p.Ser1101Gly)
c.1274A>G
c.*597A>G (n.*597A>G)
n.4240A>G
n.2841A>G
c.3352A>G (p.Ser1118Gly)
c.3400A>G (p.Ser1134Gly)
c.3460A>G (p.Ser1154Gly)
c.3010A>G (p.Ser1004Gly)
c.1312A>G (p.Ser438Gly)
c.1129A>G (p.Ser377Gly)
c.3361A>G (p.Ser1121Gly)
c.3313A>G (p.Ser1105Gly)
c.3082A>G (p.Ser1028Gly)
c.2983A>G (p.Ser995Gly)
c.2164A>G (p.Ser722Gly)
n.3715A>G
13g.51941141T>GCA388026370ATP7Bc.*1146A>C (n.*1146A>C)
c.*2240A>C (n.*2240A>C)
c.2875A>C (p.Ser959Arg)
c.3496A>C (p.Ser1166Arg)
c.3163A>C (p.Ser1055Arg)
c.3244A>C (p.Ser1082Arg)
c.3262A>C (p.Ser1088Arg)
n.3635A>C
n.3859A>C
c.2431A>C (p.Ser811Arg)
c.2206A>C (p.Ser736Arg)
c.3301A>C (p.Ser1101Arg)
c.1274A>C
c.*597A>C (n.*597A>C)
n.4240A>C
n.2841A>C
c.3352A>C (p.Ser1118Arg)
c.3400A>C (p.Ser1134Arg)
c.3460A>C (p.Ser1154Arg)
c.3010A>C (p.Ser1004Arg)
c.1312A>C (p.Ser438Arg)
c.1129A>C (p.Ser377Arg)
c.3361A>C (p.Ser1121Arg)
c.3313A>C (p.Ser1105Arg)
c.3082A>C (p.Ser1028Arg)
c.2983A>C (p.Ser995Arg)
c.2164A>C (p.Ser722Arg)
n.3715A>C
13g.51941142G>ACA483893952ATP7Bc.*1145C>T (n.*1145C>T)
c.*2239C>T (n.*2239C>T)
c.2874C>T (p.Val958=)
c.3495C>T (p.Val1165=)
c.3162C>T (p.Val1054=)
c.3243C>T (p.Val1081=)
c.3261C>T (p.Val1087=)
n.3634C>T
n.3858C>T
c.2430C>T (p.Val810=)
c.2205C>T (p.Val735=)
c.3300C>T (p.Val1100=)
c.1273C>T
c.*596C>T (n.*596C>T)
n.4239C>T
n.2840C>T
c.3351C>T (p.Val1117=)
c.3399C>T (p.Val1133=)
c.3459C>T (p.Val1153=)
c.3009C>T (p.Val1003=)
c.1311C>T (p.Val437=)
c.1128C>T (p.Val376=)
c.3360C>T (p.Val1120=)
c.3312C>T (p.Val1104=)
c.3081C>T (p.Val1027=)
c.2982C>T (p.Val994=)
c.2163C>T (p.Val721=)
n.3714C>T
 dbSNP
13g.51941142G>CCA483893954ATP7Bc.*1145C>G (n.*1145C>G)
c.*2239C>G (n.*2239C>G)
c.2874C>G (p.Val958=)
c.3495C>G (p.Val1165=)
c.3162C>G (p.Val1054=)
c.3243C>G (p.Val1081=)
c.3261C>G (p.Val1087=)
n.3634C>G
n.3858C>G
c.2430C>G (p.Val810=)
c.2205C>G (p.Val735=)
c.3300C>G (p.Val1100=)
c.1273C>G
c.*596C>G (n.*596C>G)
n.4239C>G
n.2840C>G
c.3351C>G (p.Val1117=)
c.3399C>G (p.Val1133=)
c.3459C>G (p.Val1153=)
c.3009C>G (p.Val1003=)
c.1311C>G (p.Val437=)
c.1128C>G (p.Val376=)
c.3360C>G (p.Val1120=)
c.3312C>G (p.Val1104=)
c.3081C>G (p.Val1027=)
c.2982C>G (p.Val994=)
c.2163C>G (p.Val721=)
n.3714C>G
13g.51941142G=CA2091559456ATP7Bc.*1145C= (n.*1145C=)
c.*2239C= (n.*2239C=)
c.2874C= (p.Val958=)
c.3495C= (p.Val1165=)
c.3162C= (p.Val1054=)
c.3243C= (p.Val1081=)
c.3261C= (p.Val1087=)
n.3634C=
n.3858C=
c.2430C= (p.Val810=)
c.2205C= (p.Val735=)
c.3300C= (p.Val1100=)
c.1273C=
c.*596C= (n.*596C=)
n.4239C=
n.2840C=
c.3351C= (p.Val1117=)
c.3399C= (p.Val1133=)
c.3459C= (p.Val1153=)
c.3009C= (p.Val1003=)
c.1311C= (p.Val437=)
c.1128C= (p.Val376=)
c.3360C= (p.Val1120=)
c.3312C= (p.Val1104=)
c.3081C= (p.Val1027=)
c.2982C= (p.Val994=)
c.2163C= (p.Val721=)
n.3714C=
13g.51941142G>TCA483893953ATP7Bc.*1145C>A (n.*1145C>A)
c.*2239C>A (n.*2239C>A)
c.2874C>A (p.Val958=)
c.3495C>A (p.Val1165=)
c.3162C>A (p.Val1054=)
c.3243C>A (p.Val1081=)
c.3261C>A (p.Val1087=)
n.3634C>A
n.3858C>A
c.2430C>A (p.Val810=)
c.2205C>A (p.Val735=)
c.3300C>A (p.Val1100=)
c.1273C>A
c.*596C>A (n.*596C>A)
n.4239C>A
n.2840C>A
c.3351C>A (p.Val1117=)
c.3399C>A (p.Val1133=)
c.3459C>A (p.Val1153=)
c.3009C>A (p.Val1003=)
c.1311C>A (p.Val437=)
c.1128C>A (p.Val376=)
c.3360C>A (p.Val1120=)
c.3312C>A (p.Val1104=)
c.3081C>A (p.Val1027=)
c.2982C>A (p.Val994=)
c.2163C>A (p.Val721=)
n.3714C>A
13g.51941143A>CCA388026375ATP7Bc.*1144T>G (n.*1144T>G)
c.*2238T>G (n.*2238T>G)
c.2873T>G (p.Val958Gly)
c.3494T>G (p.Val1165Gly)
c.3161T>G (p.Val1054Gly)
c.3242T>G (p.Val1081Gly)
c.3260T>G (p.Val1087Gly)
n.3633T>G
n.3857T>G
c.2429T>G (p.Val810Gly)
c.2204T>G (p.Val735Gly)
c.3299T>G (p.Val1100Gly)
c.1272T>G
c.*595T>G (n.*595T>G)
n.4238T>G
n.2839T>G
c.3350T>G (p.Val1117Gly)
c.3398T>G (p.Val1133Gly)
c.3458T>G (p.Val1153Gly)
c.3008T>G (p.Val1003Gly)
c.1310T>G (p.Val437Gly)
c.1127T>G (p.Val376Gly)
c.3359T>G (p.Val1120Gly)
c.3311T>G (p.Val1104Gly)
c.3080T>G (p.Val1027Gly)
c.2981T>G (p.Val994Gly)
c.2162T>G (p.Val721Gly)
n.3713T>G
13g.51941143A>GCA388026376ATP7Bc.*1144T>C (n.*1144T>C)
c.*2238T>C (n.*2238T>C)
c.2873T>C (p.Val958Ala)
c.3494T>C (p.Val1165Ala)
c.3161T>C (p.Val1054Ala)
c.3242T>C (p.Val1081Ala)
c.3260T>C (p.Val1087Ala)
n.3633T>C
n.3857T>C
c.2429T>C (p.Val810Ala)
c.2204T>C (p.Val735Ala)
c.3299T>C (p.Val1100Ala)
c.1272T>C
c.*595T>C (n.*595T>C)
n.4238T>C
n.2839T>C
c.3350T>C (p.Val1117Ala)
c.3398T>C (p.Val1133Ala)
c.3458T>C (p.Val1153Ala)
c.3008T>C (p.Val1003Ala)
c.1310T>C (p.Val437Ala)
c.1127T>C (p.Val376Ala)
c.3359T>C (p.Val1120Ala)
c.3311T>C (p.Val1104Ala)
c.3080T>C (p.Val1027Ala)
c.2981T>C (p.Val994Ala)
c.2162T>C (p.Val721Ala)
n.3713T>C
13g.51941143A>TCA388026379ATP7Bc.*1144T>A (n.*1144T>A)
c.*2238T>A (n.*2238T>A)
c.2873T>A (p.Val958Asp)
c.3494T>A (p.Val1165Asp)
c.3161T>A (p.Val1054Asp)
c.3242T>A (p.Val1081Asp)
c.3260T>A (p.Val1087Asp)
n.3633T>A
n.3857T>A
c.2429T>A (p.Val810Asp)
c.2204T>A (p.Val735Asp)
c.3299T>A (p.Val1100Asp)
c.1272T>A
c.*595T>A (n.*595T>A)
n.4238T>A
n.2839T>A
c.3350T>A (p.Val1117Asp)
c.3398T>A (p.Val1133Asp)
c.3458T>A (p.Val1153Asp)
c.3008T>A (p.Val1003Asp)
c.1310T>A (p.Val437Asp)
c.1127T>A (p.Val376Asp)
c.3359T>A (p.Val1120Asp)
c.3311T>A (p.Val1104Asp)
c.3080T>A (p.Val1027Asp)
c.2981T>A (p.Val994Asp)
c.2162T>A (p.Val721Asp)
n.3713T>A
13g.51941144C>ACA388026380ATP7Bc.*1143G>T (n.*1143G>T)
c.*2237G>T (n.*2237G>T)
c.2872G>T (p.Val958Phe)
c.3493G>T (p.Val1165Phe)
c.3160G>T (p.Val1054Phe)
c.3241G>T (p.Val1081Phe)
c.3259G>T (p.Val1087Phe)
n.3632G>T
n.3856G>T
c.2428G>T (p.Val810Phe)
c.2203G>T (p.Val735Phe)
c.3298G>T (p.Val1100Phe)
c.1271G>T
c.*594G>T (n.*594G>T)
n.4237G>T
n.2838G>T
c.3349G>T (p.Val1117Phe)
c.3397G>T (p.Val1133Phe)
c.3457G>T (p.Val1153Phe)
c.3007G>T (p.Val1003Phe)
c.1309G>T (p.Val437Phe)
c.1126G>T (p.Val376Phe)
c.3358G>T (p.Val1120Phe)
c.3310G>T (p.Val1104Phe)
c.3079G>T (p.Val1027Phe)
c.2980G>T (p.Val994Phe)
c.2161G>T (p.Val721Phe)
n.3712G>T
13g.51941144C=CA2091559459ATP7Bc.*1143G= (n.*1143G=)
c.*2237G= (n.*2237G=)
c.2872G= (p.Val958=)
c.3493G= (p.Val1165=)
c.3160G= (p.Val1054=)
c.3241G= (p.Val1081=)
c.3259G= (p.Val1087=)
n.3632G=
n.3856G=
c.2428G= (p.Val810=)
c.2203G= (p.Val735=)
c.3298G= (p.Val1100=)
c.1271G=
c.*594G= (n.*594G=)
n.4237G=
n.2838G=
c.3349G= (p.Val1117=)
c.3397G= (p.Val1133=)
c.3457G= (p.Val1153=)
c.3007G= (p.Val1003=)
c.1309G= (p.Val437=)
c.1126G= (p.Val376=)
c.3358G= (p.Val1120=)
c.3310G= (p.Val1104=)
c.3079G= (p.Val1027=)
c.2980G= (p.Val994=)
c.2161G= (p.Val721=)
n.3712G=
13g.51941144C>GCA388026381ATP7Bc.*1143G>C (n.*1143G>C)
c.*2237G>C (n.*2237G>C)
c.2872G>C (p.Val958Leu)
c.3493G>C (p.Val1165Leu)
c.3160G>C (p.Val1054Leu)
c.3241G>C (p.Val1081Leu)
c.3259G>C (p.Val1087Leu)
n.3632G>C
n.3856G>C
c.2428G>C (p.Val810Leu)
c.2203G>C (p.Val735Leu)
c.3298G>C (p.Val1100Leu)
c.1271G>C
c.*594G>C (n.*594G>C)
n.4237G>C
n.2838G>C
c.3349G>C (p.Val1117Leu)
c.3397G>C (p.Val1133Leu)
c.3457G>C (p.Val1153Leu)
c.3007G>C (p.Val1003Leu)
c.1309G>C (p.Val437Leu)
c.1126G>C (p.Val376Leu)
c.3358G>C (p.Val1120Leu)
c.3310G>C (p.Val1104Leu)
c.3079G>C (p.Val1027Leu)
c.2980G>C (p.Val994Leu)
c.2161G>C (p.Val721Leu)
n.3712G>C
13g.51941144C>TCA250077221ATP7Bc.*1143G>A (n.*1143G>A)
c.*2237G>A (n.*2237G>A)
c.2872G>A (p.Val958Ile)
c.3493G>A (p.Val1165Ile)
c.3160G>A (p.Val1054Ile)
c.3241G>A (p.Val1081Ile)
c.3259G>A (p.Val1087Ile)
n.3632G>A
n.3856G>A
c.2428G>A (p.Val810Ile)
c.2203G>A (p.Val735Ile)
c.3298G>A (p.Val1100Ile)
c.1271G>A
c.*594G>A (n.*594G>A)
n.4237G>A
n.2838G>A
c.3349G>A (p.Val1117Ile)
c.3397G>A (p.Val1133Ile)
c.3457G>A (p.Val1153Ile)
c.3007G>A (p.Val1003Ile)
c.1309G>A (p.Val437Ile)
c.1126G>A (p.Val376Ile)
c.3358G>A (p.Val1120Ile)
c.3310G>A (p.Val1104Ile)
c.3079G>A (p.Val1027Ile)
c.2980G>A (p.Val994Ile)
c.2161G>A (p.Val721Ile)
n.3712G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941145A>CCA388026383ATP7Bc.*1142T>G (n.*1142T>G)
c.*2236T>G (n.*2236T>G)
c.2871T>G (p.Asp957Glu)
c.3492T>G (p.Asp1164Glu)
c.3159T>G (p.Asp1053Glu)
c.3240T>G (p.Asp1080Glu)
c.3258T>G (p.Asp1086Glu)
n.3631T>G
n.3855T>G
c.2427T>G (p.Asp809Glu)
c.2202T>G (p.Asp734Glu)
c.3297T>G (p.Asp1099Glu)
c.1270T>G
c.*593T>G (n.*593T>G)
n.4236T>G
n.2837T>G
c.3348T>G (p.Asp1116Glu)
c.3396T>G (p.Asp1132Glu)
c.3456T>G (p.Asp1152Glu)
c.3006T>G (p.Asp1002Glu)
c.1308T>G (p.Asp436Glu)
c.1125T>G (p.Asp375Glu)
c.3357T>G (p.Asp1119Glu)
c.3309T>G (p.Asp1103Glu)
c.3078T>G (p.Asp1026Glu)
c.2979T>G (p.Asp993Glu)
c.2160T>G (p.Asp720Glu)
n.3711T>G
13g.51941145A>GCA483893956ATP7Bc.*1142T>C (n.*1142T>C)
c.*2236T>C (n.*2236T>C)
c.2871T>C (p.Asp957=)
c.3492T>C (p.Asp1164=)
c.3159T>C (p.Asp1053=)
c.3240T>C (p.Asp1080=)
c.3258T>C (p.Asp1086=)
n.3631T>C
n.3855T>C
c.2427T>C (p.Asp809=)
c.2202T>C (p.Asp734=)
c.3297T>C (p.Asp1099=)
c.1270T>C
c.*593T>C (n.*593T>C)
n.4236T>C
n.2837T>C
c.3348T>C (p.Asp1116=)
c.3396T>C (p.Asp1132=)
c.3456T>C (p.Asp1152=)
c.3006T>C (p.Asp1002=)
c.1308T>C (p.Asp436=)
c.1125T>C (p.Asp375=)
c.3357T>C (p.Asp1119=)
c.3309T>C (p.Asp1103=)
c.3078T>C (p.Asp1026=)
c.2979T>C (p.Asp993=)
c.2160T>C (p.Asp720=)
n.3711T>C
 ClinVar dbSNP gnomAD v4
13g.51941145A>TCA388026386ATP7Bc.*1142T>A (n.*1142T>A)
c.*2236T>A (n.*2236T>A)
c.2871T>A (p.Asp957Glu)
c.3492T>A (p.Asp1164Glu)
c.3159T>A (p.Asp1053Glu)
c.3240T>A (p.Asp1080Glu)
c.3258T>A (p.Asp1086Glu)
n.3631T>A
n.3855T>A
c.2427T>A (p.Asp809Glu)
c.2202T>A (p.Asp734Glu)
c.3297T>A (p.Asp1099Glu)
c.1270T>A
c.*593T>A (n.*593T>A)
n.4236T>A
n.2837T>A
c.3348T>A (p.Asp1116Glu)
c.3396T>A (p.Asp1132Glu)
c.3456T>A (p.Asp1152Glu)
c.3006T>A (p.Asp1002Glu)
c.1308T>A (p.Asp436Glu)
c.1125T>A (p.Asp375Glu)
c.3357T>A (p.Asp1119Glu)
c.3309T>A (p.Asp1103Glu)
c.3078T>A (p.Asp1026Glu)
c.2979T>A (p.Asp993Glu)
c.2160T>A (p.Asp720Glu)
n.3711T>A
13g.51941146T>ACA388026388ATP7Bc.*1141A>T (n.*1141A>T)
c.*2235A>T (n.*2235A>T)
c.2870A>T (p.Asp957Val)
c.3491A>T (p.Asp1164Val)
c.3158A>T (p.Asp1053Val)
c.3239A>T (p.Asp1080Val)
c.3257A>T (p.Asp1086Val)
n.3630A>T
n.3854A>T
c.2426A>T (p.Asp809Val)
c.2201A>T (p.Asp734Val)
c.3296A>T (p.Asp1099Val)
c.1269A>T
c.*592A>T (n.*592A>T)
n.4235A>T
n.2836A>T
c.3347A>T (p.Asp1116Val)
c.3395A>T (p.Asp1132Val)
c.3455A>T (p.Asp1152Val)
c.3005A>T (p.Asp1002Val)
c.1307A>T (p.Asp436Val)
c.1124A>T (p.Asp375Val)
c.3356A>T (p.Asp1119Val)
c.3308A>T (p.Asp1103Val)
c.3077A>T (p.Asp1026Val)
c.2978A>T (p.Asp993Val)
c.2159A>T (p.Asp720Val)
n.3710A>T
 dbSNP gnomAD v4
13g.51941146T>CCA388026392ATP7Bc.*1141A>G (n.*1141A>G)
c.*2235A>G (n.*2235A>G)
c.2870A>G (p.Asp957Gly)
c.3491A>G (p.Asp1164Gly)
c.3158A>G (p.Asp1053Gly)
c.3239A>G (p.Asp1080Gly)
c.3257A>G (p.Asp1086Gly)
n.3630A>G
n.3854A>G
c.2426A>G (p.Asp809Gly)
c.2201A>G (p.Asp734Gly)
c.3296A>G (p.Asp1099Gly)
c.1269A>G
c.*592A>G (n.*592A>G)
n.4235A>G
n.2836A>G
c.3347A>G (p.Asp1116Gly)
c.3395A>G (p.Asp1132Gly)
c.3455A>G (p.Asp1152Gly)
c.3005A>G (p.Asp1002Gly)
c.1307A>G (p.Asp436Gly)
c.1124A>G (p.Asp375Gly)
c.3356A>G (p.Asp1119Gly)
c.3308A>G (p.Asp1103Gly)
c.3077A>G (p.Asp1026Gly)
c.2978A>G (p.Asp993Gly)
c.2159A>G (p.Asp720Gly)
n.3710A>G
 dbSNP
13g.51941146T>GCA388026390ATP7Bc.*1141A>C (n.*1141A>C)
c.*2235A>C (n.*2235A>C)
c.2870A>C (p.Asp957Ala)
c.3491A>C (p.Asp1164Ala)
c.3158A>C (p.Asp1053Ala)
c.3239A>C (p.Asp1080Ala)
c.3257A>C (p.Asp1086Ala)
n.3630A>C
n.3854A>C
c.2426A>C (p.Asp809Ala)
c.2201A>C (p.Asp734Ala)
c.3296A>C (p.Asp1099Ala)
c.1269A>C
c.*592A>C (n.*592A>C)
n.4235A>C
n.2836A>C
c.3347A>C (p.Asp1116Ala)
c.3395A>C (p.Asp1132Ala)
c.3455A>C (p.Asp1152Ala)
c.3005A>C (p.Asp1002Ala)
c.1307A>C (p.Asp436Ala)
c.1124A>C (p.Asp375Ala)
c.3356A>C (p.Asp1119Ala)
c.3308A>C (p.Asp1103Ala)
c.3077A>C (p.Asp1026Ala)
c.2978A>C (p.Asp993Ala)
c.2159A>C (p.Asp720Ala)
n.3710A>C
13g.51941146T=CA2091559461ATP7Bc.*1141A= (n.*1141A=)
c.*2235A= (n.*2235A=)
c.2870A= (p.Asp957=)
c.3491A= (p.Asp1164=)
c.3158A= (p.Asp1053=)
c.3239A= (p.Asp1080=)
c.3257A= (p.Asp1086=)
n.3630A=
n.3854A=
c.2426A= (p.Asp809=)
c.2201A= (p.Asp734=)
c.3296A= (p.Asp1099=)
c.1269A=
c.*592A= (n.*592A=)
n.4235A=
n.2836A=
c.3347A= (p.Asp1116=)
c.3395A= (p.Asp1132=)
c.3455A= (p.Asp1152=)
c.3005A= (p.Asp1002=)
c.1307A= (p.Asp436=)
c.1124A= (p.Asp375=)
c.3356A= (p.Asp1119=)
c.3308A= (p.Asp1103=)
c.3077A= (p.Asp1026=)
c.2978A= (p.Asp993=)
c.2159A= (p.Asp720=)
n.3710A=
13g.51941147C>ACA388026393ATP7Bc.*1140G>T (n.*1140G>T)
c.*2234G>T (n.*2234G>T)
c.2869G>T (p.Asp957Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3157G>T (p.Asp1053Tyr)
c.3238G>T (p.Asp1080Tyr)
c.3256G>T (p.Asp1086Tyr)
n.3629G>T
n.3853G>T
c.2425G>T (p.Asp809Tyr)
c.2200G>T (p.Asp734Tyr)
c.3295G>T (p.Asp1099Tyr)
c.1268G>T
c.*591G>T (n.*591G>T)
n.4234G>T
n.2835G>T
c.3346G>T (p.Asp1116Tyr)
c.3394G>T (p.Asp1132Tyr)
c.3454G>T (p.Asp1152Tyr)
c.3004G>T (p.Asp1002Tyr)
c.1306G>T (p.Asp436Tyr)
c.1123G>T (p.Asp375Tyr)
c.3355G>T (p.Asp1119Tyr)
c.3307G>T (p.Asp1103Tyr)
c.3076G>T (p.Asp1026Tyr)
c.2977G>T (p.Asp993Tyr)
c.2158G>T (p.Asp720Tyr)
n.3709G>T
13g.51941147C=CA2091559465ATP7Bc.*1140G= (n.*1140G=)
c.*2234G= (n.*2234G=)
c.2869G= (p.Asp957=)
c.3490G= (p.Asp1164=)
c.3157G= (p.Asp1053=)
c.3238G= (p.Asp1080=)
c.3256G= (p.Asp1086=)
n.3629G=
n.3853G=
c.2425G= (p.Asp809=)
c.2200G= (p.Asp734=)
c.3295G= (p.Asp1099=)
c.1268G=
c.*591G= (n.*591G=)
n.4234G=
n.2835G=
c.3346G= (p.Asp1116=)
c.3394G= (p.Asp1132=)
c.3454G= (p.Asp1152=)
c.3004G= (p.Asp1002=)
c.1306G= (p.Asp436=)
c.1123G= (p.Asp375=)
c.3355G= (p.Asp1119=)
c.3307G= (p.Asp1103=)
c.3076G= (p.Asp1026=)
c.2977G= (p.Asp993=)
c.2158G= (p.Asp720=)
n.3709G=
13g.51941147C>GCA388026395ATP7Bc.*1140G>C (n.*1140G>C)
c.*2234G>C (n.*2234G>C)
c.2869G>C (p.Asp957His)
c.3490G>C (p.Asp1164His)
c.3157G>C (p.Asp1053His)
c.3238G>C (p.Asp1080His)
c.3256G>C (p.Asp1086His)
n.3629G>C
n.3853G>C
c.2425G>C (p.Asp809His)
c.2200G>C (p.Asp734His)
c.3295G>C (p.Asp1099His)
c.1268G>C
c.*591G>C (n.*591G>C)
n.4234G>C
n.2835G>C
c.3346G>C (p.Asp1116His)
c.3394G>C (p.Asp1132His)
c.3454G>C (p.Asp1152His)
c.3004G>C (p.Asp1002His)
c.1306G>C (p.Asp436His)
c.1123G>C (p.Asp375His)
c.3355G>C (p.Asp1119His)
c.3307G>C (p.Asp1103His)
c.3076G>C (p.Asp1026His)
c.2977G>C (p.Asp993His)
c.2158G>C (p.Asp720His)
n.3709G>C
 gnomAD v4
13g.51941147C>TCA250077239ATP7Bc.*1140G>A (n.*1140G>A)
c.*2234G>A (n.*2234G>A)
c.2869G>A (p.Asp957Asn)
c.3490G>A (p.Asp1164Asn)
c.3157G>A (p.Asp1053Asn)
c.3238G>A (p.Asp1080Asn)
c.3256G>A (p.Asp1086Asn)
n.3629G>A
n.3853G>A
c.2425G>A (p.Asp809Asn)
c.2200G>A (p.Asp734Asn)
c.3295G>A (p.Asp1099Asn)
c.1268G>A
c.*591G>A (n.*591G>A)
n.4234G>A
n.2835G>A
c.3346G>A (p.Asp1116Asn)
c.3394G>A (p.Asp1132Asn)
c.3454G>A (p.Asp1152Asn)
c.3004G>A (p.Asp1002Asn)
c.1306G>A (p.Asp436Asn)
c.1123G>A (p.Asp375Asn)
c.3355G>A (p.Asp1119Asn)
c.3307G>A (p.Asp1103Asn)
c.3076G>A (p.Asp1026Asn)
c.2977G>A (p.Asp993Asn)
c.2158G>A (p.Asp720Asn)
n.3709G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941148G>ACA260140ATP7Bc.*1139C>T (n.*1139C>T)
c.*2233C>T (n.*2233C>T)
c.2868C>T (p.Ser956=)
c.3489C>T (p.Ser1163=)
c.3156C>T (p.Ser1052=)
c.3237C>T (p.Ser1079=)
c.3255C>T (p.Ser1085=)
n.3628C>T
n.3852C>T
c.2424C>T (p.Ser808=)
c.2199C>T (p.Ser733=)
c.3294C>T (p.Ser1098=)
c.1267C>T
c.*590C>T (n.*590C>T)
n.4233C>T
n.2834C>T
c.3345C>T (p.Ser1115=)
c.3393C>T (p.Ser1131=)
c.3453C>T (p.Ser1151=)
c.3003C>T (p.Ser1001=)
c.1305C>T (p.Ser435=)
c.1122C>T (p.Ser374=)
c.3354C>T (p.Ser1118=)
c.3306C>T (p.Ser1102=)
c.3075C>T (p.Ser1025=)
c.2976C>T (p.Ser992=)
c.2157C>T (p.Ser719=)
n.3708C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941148G>CCA388026398ATP7Bc.*1139C>G (n.*1139C>G)
c.*2233C>G (n.*2233C>G)
c.2868C>G (p.Ser956Arg)
c.3489C>G (p.Ser1163Arg)
c.3156C>G (p.Ser1052Arg)
c.3237C>G (p.Ser1079Arg)
c.3255C>G (p.Ser1085Arg)
n.3628C>G
n.3852C>G
c.2424C>G (p.Ser808Arg)
c.2199C>G (p.Ser733Arg)
c.3294C>G (p.Ser1098Arg)
c.1267C>G
c.*590C>G (n.*590C>G)
n.4233C>G
n.2834C>G
c.3345C>G (p.Ser1115Arg)
c.3393C>G (p.Ser1131Arg)
c.3453C>G (p.Ser1151Arg)
c.3003C>G (p.Ser1001Arg)
c.1305C>G (p.Ser435Arg)
c.1122C>G (p.Ser374Arg)
c.3354C>G (p.Ser1118Arg)
c.3306C>G (p.Ser1102Arg)
c.3075C>G (p.Ser1025Arg)
c.2976C>G (p.Ser992Arg)
c.2157C>G (p.Ser719Arg)
n.3708C>G
13g.51941148G=CA2091559468ATP7Bc.*1139C= (n.*1139C=)
c.*2233C= (n.*2233C=)
c.2868C= (p.Ser956=)
c.3489C= (p.Ser1163=)
c.3156C= (p.Ser1052=)
c.3237C= (p.Ser1079=)
c.3255C= (p.Ser1085=)
n.3628C=
n.3852C=
c.2424C= (p.Ser808=)
c.2199C= (p.Ser733=)
c.3294C= (p.Ser1098=)
c.1267C=
c.*590C= (n.*590C=)
n.4233C=
n.2834C=
c.3345C= (p.Ser1115=)
c.3393C= (p.Ser1131=)
c.3453C= (p.Ser1151=)
c.3003C= (p.Ser1001=)
c.1305C= (p.Ser435=)
c.1122C= (p.Ser374=)
c.3354C= (p.Ser1118=)
c.3306C= (p.Ser1102=)
c.3075C= (p.Ser1025=)
c.2976C= (p.Ser992=)
c.2157C= (p.Ser719=)
n.3708C=
13g.51941148G>TCA388026399ATP7Bc.*1139C>A (n.*1139C>A)
c.*2233C>A (n.*2233C>A)
c.2868C>A (p.Ser956Arg)
c.3489C>A (p.Ser1163Arg)
c.3156C>A (p.Ser1052Arg)
c.3237C>A (p.Ser1079Arg)
c.3255C>A (p.Ser1085Arg)
n.3628C>A
n.3852C>A
c.2424C>A (p.Ser808Arg)
c.2199C>A (p.Ser733Arg)
c.3294C>A (p.Ser1098Arg)
c.1267C>A
c.*590C>A (n.*590C>A)
n.4233C>A
n.2834C>A
c.3345C>A (p.Ser1115Arg)
c.3393C>A (p.Ser1131Arg)
c.3453C>A (p.Ser1151Arg)
c.3003C>A (p.Ser1001Arg)
c.1305C>A (p.Ser435Arg)
c.1122C>A (p.Ser374Arg)
c.3354C>A (p.Ser1118Arg)
c.3306C>A (p.Ser1102Arg)
c.3075C>A (p.Ser1025Arg)
c.2976C>A (p.Ser992Arg)
c.2157C>A (p.Ser719Arg)
n.3708C>A
13g.51941149C>ACA388026401ATP7Bc.*1138G>T (n.*1138G>T)
c.*2232G>T (n.*2232G>T)
c.2867G>T (p.Ser956Ile)
c.3488G>T (p.Ser1163Ile)
c.3155G>T (p.Ser1052Ile)
c.3236G>T (p.Ser1079Ile)
c.3254G>T (p.Ser1085Ile)
n.3627G>T
n.3851G>T
c.2423G>T (p.Ser808Ile)
c.2198G>T (p.Ser733Ile)
c.3293G>T (p.Ser1098Ile)
c.1266G>T
c.*589G>T (n.*589G>T)
n.4232G>T
n.2833G>T
c.3344G>T (p.Ser1115Ile)
c.3392G>T (p.Ser1131Ile)
c.3452G>T (p.Ser1151Ile)
c.3002G>T (p.Ser1001Ile)
c.1304G>T (p.Ser435Ile)
c.1121G>T (p.Ser374Ile)
c.3353G>T (p.Ser1118Ile)
c.3305G>T (p.Ser1102Ile)
c.3074G>T (p.Ser1025Ile)
c.2975G>T (p.Ser992Ile)
c.2156G>T (p.Ser719Ile)
n.3707G>T
13g.51941149C>GCA388026403ATP7Bc.*1138G>C (n.*1138G>C)
c.*2232G>C (n.*2232G>C)
c.2867G>C (p.Ser956Thr)
c.3488G>C (p.Ser1163Thr)
c.3155G>C (p.Ser1052Thr)
c.3236G>C (p.Ser1079Thr)
c.3254G>C (p.Ser1085Thr)
n.3627G>C
n.3851G>C
c.2423G>C (p.Ser808Thr)
c.2198G>C (p.Ser733Thr)
c.3293G>C (p.Ser1098Thr)
c.1266G>C
c.*589G>C (n.*589G>C)
n.4232G>C
n.2833G>C
c.3344G>C (p.Ser1115Thr)
c.3392G>C (p.Ser1131Thr)
c.3452G>C (p.Ser1151Thr)
c.3002G>C (p.Ser1001Thr)
c.1304G>C (p.Ser435Thr)
c.1121G>C (p.Ser374Thr)
c.3353G>C (p.Ser1118Thr)
c.3305G>C (p.Ser1102Thr)
c.3074G>C (p.Ser1025Thr)
c.2975G>C (p.Ser992Thr)
c.2156G>C (p.Ser719Thr)
n.3707G>C
13g.51941149C>TCA388026406ATP7Bc.*1138G>A (n.*1138G>A)
c.*2232G>A (n.*2232G>A)
c.2867G>A (p.Ser956Asn)
c.3488G>A (p.Ser1163Asn)
c.3155G>A (p.Ser1052Asn)
c.3236G>A (p.Ser1079Asn)
c.3254G>A (p.Ser1085Asn)
n.3627G>A
n.3851G>A
c.2423G>A (p.Ser808Asn)
c.2198G>A (p.Ser733Asn)
c.3293G>A (p.Ser1098Asn)
c.1266G>A
c.*589G>A (n.*589G>A)
n.4232G>A
n.2833G>A
c.3344G>A (p.Ser1115Asn)
c.3392G>A (p.Ser1131Asn)
c.3452G>A (p.Ser1151Asn)
c.3002G>A (p.Ser1001Asn)
c.1304G>A (p.Ser435Asn)
c.1121G>A (p.Ser374Asn)
c.3353G>A (p.Ser1118Asn)
c.3305G>A (p.Ser1102Asn)
c.3074G>A (p.Ser1025Asn)
c.2975G>A (p.Ser992Asn)
c.2156G>A (p.Ser719Asn)
n.3707G>A
13g.51941150T>ACA388026408ATP7Bc.*1137A>T (n.*1137A>T)
c.*2231A>T (n.*2231A>T)
c.2866A>T (p.Ser956Cys)
c.3487A>T (p.Ser1163Cys)
c.3154A>T (p.Ser1052Cys)
c.3235A>T (p.Ser1079Cys)
c.3253A>T (p.Ser1085Cys)
n.3626A>T
n.3850A>T
c.2422A>T (p.Ser808Cys)
c.2197A>T (p.Ser733Cys)
c.3292A>T (p.Ser1098Cys)
c.1265A>T
c.*588A>T (n.*588A>T)
n.4231A>T
n.2832A>T
c.3343A>T (p.Ser1115Cys)
c.3391A>T (p.Ser1131Cys)
c.3451A>T (p.Ser1151Cys)
c.3001A>T (p.Ser1001Cys)
c.1303A>T (p.Ser435Cys)
c.1120A>T (p.Ser374Cys)
c.3352A>T (p.Ser1118Cys)
c.3304A>T (p.Ser1102Cys)
c.3073A>T (p.Ser1025Cys)
c.2974A>T (p.Ser992Cys)
c.2155A>T (p.Ser719Cys)
n.3706A>T
13g.51941150T>CCA388026409ATP7Bc.*1137A>G (n.*1137A>G)
c.*2231A>G (n.*2231A>G)
c.2866A>G (p.Ser956Gly)
c.3487A>G (p.Ser1163Gly)
c.3154A>G (p.Ser1052Gly)
c.3235A>G (p.Ser1079Gly)
c.3253A>G (p.Ser1085Gly)
n.3626A>G
n.3850A>G
c.2422A>G (p.Ser808Gly)
c.2197A>G (p.Ser733Gly)
c.3292A>G (p.Ser1098Gly)
c.1265A>G
c.*588A>G (n.*588A>G)
n.4231A>G
n.2832A>G
c.3343A>G (p.Ser1115Gly)
c.3391A>G (p.Ser1131Gly)
c.3451A>G (p.Ser1151Gly)
c.3001A>G (p.Ser1001Gly)
c.1303A>G (p.Ser435Gly)
c.1120A>G (p.Ser374Gly)
c.3352A>G (p.Ser1118Gly)
c.3304A>G (p.Ser1102Gly)
c.3073A>G (p.Ser1025Gly)
c.2974A>G (p.Ser992Gly)
c.2155A>G (p.Ser719Gly)
n.3706A>G
13g.51941150T>GCA388026412ATP7Bc.*1137A>C (n.*1137A>C)
c.*2231A>C (n.*2231A>C)
c.2866A>C (p.Ser956Arg)
c.3487A>C (p.Ser1163Arg)
c.3154A>C (p.Ser1052Arg)
c.3235A>C (p.Ser1079Arg)
c.3253A>C (p.Ser1085Arg)
n.3626A>C
n.3850A>C
c.2422A>C (p.Ser808Arg)
c.2197A>C (p.Ser733Arg)
c.3292A>C (p.Ser1098Arg)
c.1265A>C
c.*588A>C (n.*588A>C)
n.4231A>C
n.2832A>C
c.3343A>C (p.Ser1115Arg)
c.3391A>C (p.Ser1131Arg)
c.3451A>C (p.Ser1151Arg)
c.3001A>C (p.Ser1001Arg)
c.1303A>C (p.Ser435Arg)
c.1120A>C (p.Ser374Arg)
c.3352A>C (p.Ser1118Arg)
c.3304A>C (p.Ser1102Arg)
c.3073A>C (p.Ser1025Arg)
c.2974A>C (p.Ser992Arg)
c.2155A>C (p.Ser719Arg)
n.3706A>C
13g.51941151A=CA2091559470ATP7Bc.*1136T= (n.*1136T=)
c.*2230T= (n.*2230T=)
c.2865T= (p.Ser955=)
c.3486T= (p.Ser1162=)
c.3153T= (p.Ser1051=)
c.3234T= (p.Ser1078=)
c.3252T= (p.Ser1084=)
n.3625T=
n.3849T=
c.2421T= (p.Ser807=)
c.2196T= (p.Ser732=)
c.3291T= (p.Ser1097=)
c.1264T=
c.*587T= (n.*587T=)
n.4230T=
n.2831T=
c.3342T= (p.Ser1114=)
c.3390T= (p.Ser1130=)
c.3450T= (p.Ser1150=)
c.3000T= (p.Ser1000=)
c.1302T= (p.Ser434=)
c.1119T= (p.Ser373=)
c.3351T= (p.Ser1117=)
c.3303T= (p.Ser1101=)
c.3072T= (p.Ser1024=)
c.2973T= (p.Ser991=)
c.2154T= (p.Ser718=)
n.3705T=
13g.51941151A>CCA483893977ATP7Bc.*1136T>G (n.*1136T>G)
c.*2230T>G (n.*2230T>G)
c.2865T>G (p.Ser955=)
c.3486T>G (p.Ser1162=)
c.3153T>G (p.Ser1051=)
c.3234T>G (p.Ser1078=)
c.3252T>G (p.Ser1084=)
n.3625T>G
n.3849T>G
c.2421T>G (p.Ser807=)
c.2196T>G (p.Ser732=)
c.3291T>G (p.Ser1097=)
c.1264T>G
c.*587T>G (n.*587T>G)
n.4230T>G
n.2831T>G
c.3342T>G (p.Ser1114=)
c.3390T>G (p.Ser1130=)
c.3450T>G (p.Ser1150=)
c.3000T>G (p.Ser1000=)
c.1302T>G (p.Ser434=)
c.1119T>G (p.Ser373=)
c.3351T>G (p.Ser1117=)
c.3303T>G (p.Ser1101=)
c.3072T>G (p.Ser1024=)
c.2973T>G (p.Ser991=)
c.2154T>G (p.Ser718=)
n.3705T>G
 dbSNP
13g.51941151A>GCA483893978ATP7Bc.*1136T>C (n.*1136T>C)
c.*2230T>C (n.*2230T>C)
c.2865T>C (p.Ser955=)
c.3486T>C (p.Ser1162=)
c.3153T>C (p.Ser1051=)
c.3234T>C (p.Ser1078=)
c.3252T>C (p.Ser1084=)
n.3625T>C
n.3849T>C
c.2421T>C (p.Ser807=)
c.2196T>C (p.Ser732=)
c.3291T>C (p.Ser1097=)
c.1264T>C
c.*587T>C (n.*587T>C)
n.4230T>C
n.2831T>C
c.3342T>C (p.Ser1114=)
c.3390T>C (p.Ser1130=)
c.3450T>C (p.Ser1150=)
c.3000T>C (p.Ser1000=)
c.1302T>C (p.Ser434=)
c.1119T>C (p.Ser373=)
c.3351T>C (p.Ser1117=)
c.3303T>C (p.Ser1101=)
c.3072T>C (p.Ser1024=)
c.2973T>C (p.Ser991=)
c.2154T>C (p.Ser718=)
n.3705T>C
13g.51941151A>TCA483893980ATP7Bc.*1136T>A (n.*1136T>A)
c.*2230T>A (n.*2230T>A)
c.2865T>A (p.Ser955=)
c.3486T>A (p.Ser1162=)
c.3153T>A (p.Ser1051=)
c.3234T>A (p.Ser1078=)
c.3252T>A (p.Ser1084=)
n.3625T>A
n.3849T>A
c.2421T>A (p.Ser807=)
c.2196T>A (p.Ser732=)
c.3291T>A (p.Ser1097=)
c.1264T>A
c.*587T>A (n.*587T>A)
n.4230T>A
n.2831T>A
c.3342T>A (p.Ser1114=)
c.3390T>A (p.Ser1130=)
c.3450T>A (p.Ser1150=)
c.3000T>A (p.Ser1000=)
c.1302T>A (p.Ser434=)
c.1119T>A (p.Ser373=)
c.3351T>A (p.Ser1117=)
c.3303T>A (p.Ser1101=)
c.3072T>A (p.Ser1024=)
c.2973T>A (p.Ser991=)
c.2154T>A (p.Ser718=)
n.3705T>A
13g.51941152G>ACA388026415ATP7Bc.*1135C>T (n.*1135C>T)
c.*2229C>T (n.*2229C>T)
c.2864C>T (p.Ser955Phe)
c.3485C>T (p.Ser1162Phe)
c.3152C>T (p.Ser1051Phe)
c.3233C>T (p.Ser1078Phe)
c.3251C>T (p.Ser1084Phe)
n.3624C>T
n.3848C>T
c.2420C>T (p.Ser807Phe)
c.2195C>T (p.Ser732Phe)
c.3290C>T (p.Ser1097Phe)
c.1263C>T
c.*586C>T (n.*586C>T)
n.4229C>T
n.2830C>T
c.3341C>T (p.Ser1114Phe)
c.3389C>T (p.Ser1130Phe)
c.3449C>T (p.Ser1150Phe)
c.2999C>T (p.Ser1000Phe)
c.1301C>T (p.Ser434Phe)
c.1118C>T (p.Ser373Phe)
c.3350C>T (p.Ser1117Phe)
c.3302C>T (p.Ser1101Phe)
c.3071C>T (p.Ser1024Phe)
c.2972C>T (p.Ser991Phe)
c.2153C>T (p.Ser718Phe)
n.3704C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941152G>CCA388026413ATP7Bc.*1135C>G (n.*1135C>G)
c.*2229C>G (n.*2229C>G)
c.2864C>G (p.Ser955Cys)
c.3485C>G (p.Ser1162Cys)
c.3152C>G (p.Ser1051Cys)
c.3233C>G (p.Ser1078Cys)
c.3251C>G (p.Ser1084Cys)
n.3624C>G
n.3848C>G
c.2420C>G (p.Ser807Cys)
c.2195C>G (p.Ser732Cys)
c.3290C>G (p.Ser1097Cys)
c.1263C>G
c.*586C>G (n.*586C>G)
n.4229C>G
n.2830C>G
c.3341C>G (p.Ser1114Cys)
c.3389C>G (p.Ser1130Cys)
c.3449C>G (p.Ser1150Cys)
c.2999C>G (p.Ser1000Cys)
c.1301C>G (p.Ser434Cys)
c.1118C>G (p.Ser373Cys)
c.3350C>G (p.Ser1117Cys)
c.3302C>G (p.Ser1101Cys)
c.3071C>G (p.Ser1024Cys)
c.2972C>G (p.Ser991Cys)
c.2153C>G (p.Ser718Cys)
n.3704C>G
13g.51941152G=CA2091559473ATP7Bc.*1135C= (n.*1135C=)
c.*2229C= (n.*2229C=)
c.2864C= (p.Ser955=)
c.3485C= (p.Ser1162=)
c.3152C= (p.Ser1051=)
c.3233C= (p.Ser1078=)
c.3251C= (p.Ser1084=)
n.3624C=
n.3848C=
c.2420C= (p.Ser807=)
c.2195C= (p.Ser732=)
c.3290C= (p.Ser1097=)
c.1263C=
c.*586C= (n.*586C=)
n.4229C=
n.2830C=
c.3341C= (p.Ser1114=)
c.3389C= (p.Ser1130=)
c.3449C= (p.Ser1150=)
c.2999C= (p.Ser1000=)
c.1301C= (p.Ser434=)
c.1118C= (p.Ser373=)
c.3350C= (p.Ser1117=)
c.3302C= (p.Ser1101=)
c.3071C= (p.Ser1024=)
c.2972C= (p.Ser991=)
c.2153C= (p.Ser718=)
n.3704C=
13g.51941152G>TCA388026414ATP7Bc.*1135C>A (n.*1135C>A)
c.*2229C>A (n.*2229C>A)
c.2864C>A (p.Ser955Tyr)
c.3485C>A (p.Ser1162Tyr)
c.3152C>A (p.Ser1051Tyr)
c.3233C>A (p.Ser1078Tyr)
c.3251C>A (p.Ser1084Tyr)
n.3624C>A
n.3848C>A
c.2420C>A (p.Ser807Tyr)
c.2195C>A (p.Ser732Tyr)
c.3290C>A (p.Ser1097Tyr)
c.1263C>A
c.*586C>A (n.*586C>A)
n.4229C>A
n.2830C>A
c.3341C>A (p.Ser1114Tyr)
c.3389C>A (p.Ser1130Tyr)
c.3449C>A (p.Ser1150Tyr)
c.2999C>A (p.Ser1000Tyr)
c.1301C>A (p.Ser434Tyr)
c.1118C>A (p.Ser373Tyr)
c.3350C>A (p.Ser1117Tyr)
c.3302C>A (p.Ser1101Tyr)
c.3071C>A (p.Ser1024Tyr)
c.2972C>A (p.Ser991Tyr)
c.2153C>A (p.Ser718Tyr)
n.3704C>A
13g.51941153A>CCA388026419ATP7Bc.*1134T>G (n.*1134T>G)
c.*2228T>G (n.*2228T>G)
c.2863T>G (p.Ser955Ala)
c.3484T>G (p.Ser1162Ala)
c.3151T>G (p.Ser1051Ala)
c.3232T>G (p.Ser1078Ala)
c.3250T>G (p.Ser1084Ala)
n.3623T>G
n.3847T>G
c.2419T>G (p.Ser807Ala)
c.2194T>G (p.Ser732Ala)
c.3289T>G (p.Ser1097Ala)
c.1262T>G
c.*585T>G (n.*585T>G)
n.4228T>G
n.2829T>G
c.3340T>G (p.Ser1114Ala)
c.3388T>G (p.Ser1130Ala)
c.3448T>G (p.Ser1150Ala)
c.2998T>G (p.Ser1000Ala)
c.1300T>G (p.Ser434Ala)
c.1117T>G (p.Ser373Ala)
c.3349T>G (p.Ser1117Ala)
c.3301T>G (p.Ser1101Ala)
c.3070T>G (p.Ser1024Ala)
c.2971T>G (p.Ser991Ala)
c.2152T>G (p.Ser718Ala)
n.3703T>G
13g.51941153A>GCA388026421ATP7Bc.*1134T>C (n.*1134T>C)
c.*2228T>C (n.*2228T>C)
c.2863T>C (p.Ser955Pro)
c.3484T>C (p.Ser1162Pro)
c.3151T>C (p.Ser1051Pro)
c.3232T>C (p.Ser1078Pro)
c.3250T>C (p.Ser1084Pro)
n.3623T>C
n.3847T>C
c.2419T>C (p.Ser807Pro)
c.2194T>C (p.Ser732Pro)
c.3289T>C (p.Ser1097Pro)
c.1262T>C
c.*585T>C (n.*585T>C)
n.4228T>C
n.2829T>C
c.3340T>C (p.Ser1114Pro)
c.3388T>C (p.Ser1130Pro)
c.3448T>C (p.Ser1150Pro)
c.2998T>C (p.Ser1000Pro)
c.1300T>C (p.Ser434Pro)
c.1117T>C (p.Ser373Pro)
c.3349T>C (p.Ser1117Pro)
c.3301T>C (p.Ser1101Pro)
c.3070T>C (p.Ser1024Pro)
c.2971T>C (p.Ser991Pro)
c.2152T>C (p.Ser718Pro)
n.3703T>C
 ClinVar dbSNP gnomAD v4
13g.51941153A>TCA388026423ATP7Bc.*1134T>A (n.*1134T>A)
c.*2228T>A (n.*2228T>A)
c.2863T>A (p.Ser955Thr)
c.3484T>A (p.Ser1162Thr)
c.3151T>A (p.Ser1051Thr)
c.3232T>A (p.Ser1078Thr)
c.3250T>A (p.Ser1084Thr)
n.3623T>A
n.3847T>A
c.2419T>A (p.Ser807Thr)
c.2194T>A (p.Ser732Thr)
c.3289T>A (p.Ser1097Thr)
c.1262T>A
c.*585T>A (n.*585T>A)
n.4228T>A
n.2829T>A
c.3340T>A (p.Ser1114Thr)
c.3388T>A (p.Ser1130Thr)
c.3448T>A (p.Ser1150Thr)
c.2998T>A (p.Ser1000Thr)
c.1300T>A (p.Ser434Thr)
c.1117T>A (p.Ser373Thr)
c.3349T>A (p.Ser1117Thr)
c.3301T>A (p.Ser1101Thr)
c.3070T>A (p.Ser1024Thr)
c.2971T>A (p.Ser991Thr)
c.2152T>A (p.Ser718Thr)
n.3703T>A
13g.51941154A>CCA388026425ATP7Bc.*1133T>G (n.*1133T>G)
c.*2227T>G (n.*2227T>G)
c.2862T>G (p.Ile954Met)
c.3483T>G (p.Ile1161Met)
c.3150T>G (p.Ile1050Met)
c.3231T>G (p.Ile1077Met)
c.3249T>G (p.Ile1083Met)
n.3622T>G
n.3846T>G
c.2418T>G (p.Ile806Met)
c.2193T>G (p.Ile731Met)
c.3288T>G (p.Ile1096Met)
c.1261T>G
c.*584T>G (n.*584T>G)
n.4227T>G
n.2828T>G
c.3339T>G (p.Ile1113Met)
c.3387T>G (p.Ile1129Met)
c.3447T>G (p.Ile1149Met)
c.2997T>G (p.Ile999Met)
c.1299T>G (p.Ile433Met)
c.1116T>G (p.Ile372Met)
c.3348T>G (p.Ile1116Met)
c.3300T>G (p.Ile1100Met)
c.3069T>G (p.Ile1023Met)
c.2970T>G (p.Ile990Met)
c.2151T>G (p.Ile717Met)
n.3702T>G
13g.51941154A>GCA483893988ATP7Bc.*1133T>C (n.*1133T>C)
c.*2227T>C (n.*2227T>C)
c.2862T>C (p.Ile954=)
c.3483T>C (p.Ile1161=)
c.3150T>C (p.Ile1050=)
c.3231T>C (p.Ile1077=)
c.3249T>C (p.Ile1083=)
n.3622T>C
n.3846T>C
c.2418T>C (p.Ile806=)
c.2193T>C (p.Ile731=)
c.3288T>C (p.Ile1096=)
c.1261T>C
c.*584T>C (n.*584T>C)
n.4227T>C
n.2828T>C
c.3339T>C (p.Ile1113=)
c.3387T>C (p.Ile1129=)
c.3447T>C (p.Ile1149=)
c.2997T>C (p.Ile999=)
c.1299T>C (p.Ile433=)
c.1116T>C (p.Ile372=)
c.3348T>C (p.Ile1116=)
c.3300T>C (p.Ile1100=)
c.3069T>C (p.Ile1023=)
c.2970T>C (p.Ile990=)
c.2151T>C (p.Ile717=)
n.3702T>C
13g.51941154A>TCA483893990ATP7Bc.*1133T>A (n.*1133T>A)
c.*2227T>A (n.*2227T>A)
c.2862T>A (p.Ile954=)
c.3483T>A (p.Ile1161=)
c.3150T>A (p.Ile1050=)
c.3231T>A (p.Ile1077=)
c.3249T>A (p.Ile1083=)
n.3622T>A
n.3846T>A
c.2418T>A (p.Ile806=)
c.2193T>A (p.Ile731=)
c.3288T>A (p.Ile1096=)
c.1261T>A
c.*584T>A (n.*584T>A)
n.4227T>A
n.2828T>A
c.3339T>A (p.Ile1113=)
c.3387T>A (p.Ile1129=)
c.3447T>A (p.Ile1149=)
c.2997T>A (p.Ile999=)
c.1299T>A (p.Ile433=)
c.1116T>A (p.Ile372=)
c.3348T>A (p.Ile1116=)
c.3300T>A (p.Ile1100=)
c.3069T>A (p.Ile1023=)
c.2970T>A (p.Ile990=)
c.2151T>A (p.Ile717=)
n.3702T>A
13g.51941154_51941165delinsAATGGTTAAACCCA2091559475ATP7Bc.*1122_*1133delinsGGTTTAACCATT (n.*1122_*1133delinsGGTTTAACCATT)
c.*2216_*2227delinsGGTTTAACCATT (n.*2216_*2227delinsGGTTTAACCATT)
c.2851_2862delinsGGTTTAACCATT (p.Gly951=)
c.3472_3483delinsGGTTTAACCATT (p.Gly1158=)
c.3139_3150delinsGGTTTAACCATT (p.Gly1047=)
c.3220_3231delinsGGTTTAACCATT (p.Gly1074=)
c.3238_3249delinsGGTTTAACCATT (p.Gly1080=)
n.3611_3622delinsGGTTTAACCATT
n.3835_3846delinsGGTTTAACCATT
c.2407_2418delinsGGTTTAACCATT (p.Gly803=)
c.2182_2193delinsGGTTTAACCATT (p.Gly728=)
c.3277_3288delinsGGTTTAACCATT (p.Gly1093=)
c.1250_1261delinsGGTTTAACCATT
c.*573_*584delinsGGTTTAACCATT (n.*573_*584delinsGGTTTAACCATT)
n.4216_4227delinsGGTTTAACCATT
n.2817_2828delinsGGTTTAACCATT
c.3328_3339delinsGGTTTAACCATT (p.Gly1110=)
c.3376_3387delinsGGTTTAACCATT (p.Gly1126=)
c.3436_3447delinsGGTTTAACCATT (p.Gly1146=)
c.2986_2997delinsGGTTTAACCATT (p.Gly996=)
c.1288_1299delinsGGTTTAACCATT (p.Gly430=)
c.1105_1116delinsGGTTTAACCATT (p.Gly369=)
c.3337_3348delinsGGTTTAACCATT (p.Gly1113=)
c.3289_3300delinsGGTTTAACCATT (p.Gly1097=)
c.3058_3069delinsGGTTTAACCATT (p.Gly1020=)
c.2959_2970delinsGGTTTAACCATT (p.Gly987=)
c.2140_2151delinsGGTTTAACCATT (p.Gly714=)
n.3691_3702delinsGGTTTAACCATT
13g.51941155A>CCA388026429ATP7Bc.*1132T>G (n.*1132T>G)
c.*2226T>G (n.*2226T>G)
c.2861T>G (p.Ile954Ser)
c.3482T>G (p.Ile1161Ser)
c.3149T>G (p.Ile1050Ser)
c.3230T>G (p.Ile1077Ser)
c.3248T>G (p.Ile1083Ser)
n.3621T>G
n.3845T>G
c.2417T>G (p.Ile806Ser)
c.2192T>G (p.Ile731Ser)
c.3287T>G (p.Ile1096Ser)
c.1260T>G
c.*583T>G (n.*583T>G)
n.4226T>G
n.2827T>G
c.3338T>G (p.Ile1113Ser)
c.3386T>G (p.Ile1129Ser)
c.3446T>G (p.Ile1149Ser)
c.2996T>G (p.Ile999Ser)
c.1298T>G (p.Ile433Ser)
c.1115T>G (p.Ile372Ser)
c.3347T>G (p.Ile1116Ser)
c.3299T>G (p.Ile1100Ser)
c.3068T>G (p.Ile1023Ser)
c.2969T>G (p.Ile990Ser)
c.2150T>G (p.Ile717Ser)
n.3701T>G
13g.51941155A>GCA388026431ATP7Bc.*1132T>C (n.*1132T>C)
c.*2226T>C (n.*2226T>C)
c.2861T>C (p.Ile954Thr)
c.3482T>C (p.Ile1161Thr)
c.3149T>C (p.Ile1050Thr)
c.3230T>C (p.Ile1077Thr)
c.3248T>C (p.Ile1083Thr)
n.3621T>C
n.3845T>C
c.2417T>C (p.Ile806Thr)
c.2192T>C (p.Ile731Thr)
c.3287T>C (p.Ile1096Thr)
c.1260T>C
c.*583T>C (n.*583T>C)
n.4226T>C
n.2827T>C
c.3338T>C (p.Ile1113Thr)
c.3386T>C (p.Ile1129Thr)
c.3446T>C (p.Ile1149Thr)
c.2996T>C (p.Ile999Thr)
c.1298T>C (p.Ile433Thr)
c.1115T>C (p.Ile372Thr)
c.3347T>C (p.Ile1116Thr)
c.3299T>C (p.Ile1100Thr)
c.3068T>C (p.Ile1023Thr)
c.2969T>C (p.Ile990Thr)
c.2150T>C (p.Ile717Thr)
n.3701T>C
13g.51941155A>TCA388026434ATP7Bc.*1132T>A (n.*1132T>A)
c.*2226T>A (n.*2226T>A)
c.2861T>A (p.Ile954Asn)
c.3482T>A (p.Ile1161Asn)
c.3149T>A (p.Ile1050Asn)
c.3230T>A (p.Ile1077Asn)
c.3248T>A (p.Ile1083Asn)
n.3621T>A
n.3845T>A
c.2417T>A (p.Ile806Asn)
c.2192T>A (p.Ile731Asn)
c.3287T>A (p.Ile1096Asn)
c.1260T>A
c.*583T>A (n.*583T>A)
n.4226T>A
n.2827T>A
c.3338T>A (p.Ile1113Asn)
c.3386T>A (p.Ile1129Asn)
c.3446T>A (p.Ile1149Asn)
c.2996T>A (p.Ile999Asn)
c.1298T>A (p.Ile433Asn)
c.1115T>A (p.Ile372Asn)
c.3347T>A (p.Ile1116Asn)
c.3299T>A (p.Ile1100Asn)
c.3068T>A (p.Ile1023Asn)
c.2969T>A (p.Ile990Asn)
c.2150T>A (p.Ile717Asn)
n.3701T>A
13g.51941155_51941165delCA919272619ATP7Bc.*1122_*1132del (n.*1122_*1132del)
c.*2216_*2226del (n.*2216_*2226del)
c.2851_2861del (p.Gly951PhefsTer2)
c.3472_3482del (p.Gly1158PhefsTer2)
c.3139_3149del (p.Gly1047PhefsTer2)
c.3220_3230del (p.Gly1074PhefsTer2)
c.3238_3248del (p.Gly1080PhefsTer2)
n.3611_3621del
n.3835_3845del
c.2407_2417del (p.Gly803PhefsTer2)
c.2182_2192del (p.Gly728PhefsTer2)
c.3277_3287del (p.Gly1093PhefsTer2)
c.1250_1260del
c.*573_*583del (n.*573_*583del)
n.4216_4226del
n.2817_2827del
c.3328_3338del (p.Gly1110PhefsTer2)
c.3376_3386del (p.Gly1126PhefsTer2)
c.3436_3446del (p.Gly1146PhefsTer2)
c.2986_2996del (p.Gly996PhefsTer2)
c.1288_1298del (p.Gly430PhefsTer2)
c.1105_1115del (p.Gly369PhefsTer2)
c.3337_3347del (p.Gly1113PhefsTer2)
c.3289_3299del (p.Gly1097PhefsTer2)
c.3058_3068del (p.Gly1020PhefsTer2)
c.2959_2969del (p.Gly987PhefsTer2)
c.2140_2150del (p.Gly714PhefsTer2)
n.3691_3701del
 ClinVar dbSNP gnomAD v4
13g.51941156T>ACA388026438ATP7Bc.*1131A>T (n.*1131A>T)
c.*2225A>T (n.*2225A>T)
c.2860A>T (p.Ile954Phe)
c.3481A>T (p.Ile1161Phe)
c.3148A>T (p.Ile1050Phe)
c.3229A>T (p.Ile1077Phe)
c.3247A>T (p.Ile1083Phe)
n.3620A>T
n.3844A>T
c.2416A>T (p.Ile806Phe)
c.2191A>T (p.Ile731Phe)
c.3286A>T (p.Ile1096Phe)
c.1259A>T
c.*582A>T (n.*582A>T)
n.4225A>T
n.2826A>T
c.3337A>T (p.Ile1113Phe)
c.3385A>T (p.Ile1129Phe)
c.3445A>T (p.Ile1149Phe)
c.2995A>T (p.Ile999Phe)
c.1297A>T (p.Ile433Phe)
c.1114A>T (p.Ile372Phe)
c.3346A>T (p.Ile1116Phe)
c.3298A>T (p.Ile1100Phe)
c.3067A>T (p.Ile1023Phe)
c.2968A>T (p.Ile990Phe)
c.2149A>T (p.Ile717Phe)
n.3700A>T
 dbSNP gnomAD v2 gnomAD v4
13g.51941156T>CCA388026440ATP7Bc.*1131A>G (n.*1131A>G)
c.*2225A>G (n.*2225A>G)
c.2860A>G (p.Ile954Val)
c.3481A>G (p.Ile1161Val)
c.3148A>G (p.Ile1050Val)
c.3229A>G (p.Ile1077Val)
c.3247A>G (p.Ile1083Val)
n.3620A>G
n.3844A>G
c.2416A>G (p.Ile806Val)
c.2191A>G (p.Ile731Val)
c.3286A>G (p.Ile1096Val)
c.1259A>G
c.*582A>G (n.*582A>G)
n.4225A>G
n.2826A>G
c.3337A>G (p.Ile1113Val)
c.3385A>G (p.Ile1129Val)
c.3445A>G (p.Ile1149Val)
c.2995A>G (p.Ile999Val)
c.1297A>G (p.Ile433Val)
c.1114A>G (p.Ile372Val)
c.3346A>G (p.Ile1116Val)
c.3298A>G (p.Ile1100Val)
c.3067A>G (p.Ile1023Val)
c.2968A>G (p.Ile990Val)
c.2149A>G (p.Ile717Val)
n.3700A>G
 ClinVar gnomAD v4 COSMIC
13g.51941156T>GCA388026443ATP7Bc.*1131A>C (n.*1131A>C)
c.*2225A>C (n.*2225A>C)
c.2860A>C (p.Ile954Leu)
c.3481A>C (p.Ile1161Leu)
c.3148A>C (p.Ile1050Leu)
c.3229A>C (p.Ile1077Leu)
c.3247A>C (p.Ile1083Leu)
n.3620A>C
n.3844A>C
c.2416A>C (p.Ile806Leu)
c.2191A>C (p.Ile731Leu)
c.3286A>C (p.Ile1096Leu)
c.1259A>C
c.*582A>C (n.*582A>C)
n.4225A>C
n.2826A>C
c.3337A>C (p.Ile1113Leu)
c.3385A>C (p.Ile1129Leu)
c.3445A>C (p.Ile1149Leu)
c.2995A>C (p.Ile999Leu)
c.1297A>C (p.Ile433Leu)
c.1114A>C (p.Ile372Leu)
c.3346A>C (p.Ile1116Leu)
c.3298A>C (p.Ile1100Leu)
c.3067A>C (p.Ile1023Leu)
c.2968A>C (p.Ile990Leu)
c.2149A>C (p.Ile717Leu)
n.3700A>C
13g.51941156T=CA2091559480ATP7Bc.*1131A= (n.*1131A=)
c.*2225A= (n.*2225A=)
c.2860A= (p.Ile954=)
c.3481A= (p.Ile1161=)
c.3148A= (p.Ile1050=)
c.3229A= (p.Ile1077=)
c.3247A= (p.Ile1083=)
n.3620A=
n.3844A=
c.2416A= (p.Ile806=)
c.2191A= (p.Ile731=)
c.3286A= (p.Ile1096=)
c.1259A=
c.*582A= (n.*582A=)
n.4225A=
n.2826A=
c.3337A= (p.Ile1113=)
c.3385A= (p.Ile1129=)
c.3445A= (p.Ile1149=)
c.2995A= (p.Ile999=)
c.1297A= (p.Ile433=)
c.1114A= (p.Ile372=)
c.3346A= (p.Ile1116=)
c.3298A= (p.Ile1100=)
c.3067A= (p.Ile1023=)
c.2968A= (p.Ile990=)
c.2149A= (p.Ile717=)
n.3700A=
13g.51941157G>ACA483893999ATP7Bc.*1130C>T (n.*1130C>T)
c.*2224C>T (n.*2224C>T)
c.2859C>T (p.Thr953=)
c.3480C>T (p.Thr1160=)
c.3147C>T (p.Thr1049=)
c.3228C>T (p.Thr1076=)
c.3246C>T (p.Thr1082=)
n.3619C>T
n.3843C>T
c.2415C>T (p.Thr805=)
c.2190C>T (p.Thr730=)
c.3285C>T (p.Thr1095=)
c.1258C>T
c.*581C>T (n.*581C>T)
n.4224C>T
n.2825C>T
c.3336C>T (p.Thr1112=)
c.3384C>T (p.Thr1128=)
c.3444C>T (p.Thr1148=)
c.2994C>T (p.Thr998=)
c.1296C>T (p.Thr432=)
c.1113C>T (p.Thr371=)
c.3345C>T (p.Thr1115=)
c.3297C>T (p.Thr1099=)
c.3066C>T (p.Thr1022=)
c.2967C>T (p.Thr989=)
c.2148C>T (p.Thr716=)
n.3699C>T
 gnomAD v4
13g.51941157G>CCA483894001ATP7Bc.*1130C>G (n.*1130C>G)
c.*2224C>G (n.*2224C>G)
c.2859C>G (p.Thr953=)
c.3480C>G (p.Thr1160=)
c.3147C>G (p.Thr1049=)
c.3228C>G (p.Thr1076=)
c.3246C>G (p.Thr1082=)
n.3619C>G
n.3843C>G
c.2415C>G (p.Thr805=)
c.2190C>G (p.Thr730=)
c.3285C>G (p.Thr1095=)
c.1258C>G
c.*581C>G (n.*581C>G)
n.4224C>G
n.2825C>G
c.3336C>G (p.Thr1112=)
c.3384C>G (p.Thr1128=)
c.3444C>G (p.Thr1148=)
c.2994C>G (p.Thr998=)
c.1296C>G (p.Thr432=)
c.1113C>G (p.Thr371=)
c.3345C>G (p.Thr1115=)
c.3297C>G (p.Thr1099=)
c.3066C>G (p.Thr1022=)
c.2967C>G (p.Thr989=)
c.2148C>G (p.Thr716=)
n.3699C>G
13g.51941157G>TCA483894003ATP7Bc.*1130C>A (n.*1130C>A)
c.*2224C>A (n.*2224C>A)
c.2859C>A (p.Thr953=)
c.3480C>A (p.Thr1160=)
c.3147C>A (p.Thr1049=)
c.3228C>A (p.Thr1076=)
c.3246C>A (p.Thr1082=)
n.3619C>A
n.3843C>A
c.2415C>A (p.Thr805=)
c.2190C>A (p.Thr730=)
c.3285C>A (p.Thr1095=)
c.1258C>A
c.*581C>A (n.*581C>A)
n.4224C>A
n.2825C>A
c.3336C>A (p.Thr1112=)
c.3384C>A (p.Thr1128=)
c.3444C>A (p.Thr1148=)
c.2994C>A (p.Thr998=)
c.1296C>A (p.Thr432=)
c.1113C>A (p.Thr371=)
c.3345C>A (p.Thr1115=)
c.3297C>A (p.Thr1099=)
c.3066C>A (p.Thr1022=)
c.2967C>A (p.Thr989=)
c.2148C>A (p.Thr716=)
n.3699C>A
13g.51941158G>ACA6988674ATP7Bc.*1129C>T (n.*1129C>T)
c.*2223C>T (n.*2223C>T)
c.2858C>T (p.Thr953Ile)
c.3479C>T (p.Thr1160Ile)
c.3146C>T (p.Thr1049Ile)
c.3227C>T (p.Thr1076Ile)
c.3245C>T (p.Thr1082Ile)
n.3618C>T
n.3842C>T
c.2414C>T (p.Thr805Ile)
c.2189C>T (p.Thr730Ile)
c.3284C>T (p.Thr1095Ile)
c.1257C>T
c.*580C>T (n.*580C>T)
n.4223C>T
n.2824C>T
c.3335C>T (p.Thr1112Ile)
c.3383C>T (p.Thr1128Ile)
c.3443C>T (p.Thr1148Ile)
c.2993C>T (p.Thr998Ile)
c.1295C>T (p.Thr432Ile)
c.1112C>T (p.Thr371Ile)
c.3344C>T (p.Thr1115Ile)
c.3296C>T (p.Thr1099Ile)
c.3065C>T (p.Thr1022Ile)
c.2966C>T (p.Thr989Ile)
c.2147C>T (p.Thr716Ile)
n.3698C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941158G>CCA388026449ATP7Bc.*1129C>G (n.*1129C>G)
c.*2223C>G (n.*2223C>G)
c.2858C>G (p.Thr953Ser)
c.3479C>G (p.Thr1160Ser)
c.3146C>G (p.Thr1049Ser)
c.3227C>G (p.Thr1076Ser)
c.3245C>G (p.Thr1082Ser)
n.3618C>G
n.3842C>G
c.2414C>G (p.Thr805Ser)
c.2189C>G (p.Thr730Ser)
c.3284C>G (p.Thr1095Ser)
c.1257C>G
c.*580C>G (n.*580C>G)
n.4223C>G
n.2824C>G
c.3335C>G (p.Thr1112Ser)
c.3383C>G (p.Thr1128Ser)
c.3443C>G (p.Thr1148Ser)
c.2993C>G (p.Thr998Ser)
c.1295C>G (p.Thr432Ser)
c.1112C>G (p.Thr371Ser)
c.3344C>G (p.Thr1115Ser)
c.3296C>G (p.Thr1099Ser)
c.3065C>G (p.Thr1022Ser)
c.2966C>G (p.Thr989Ser)
c.2147C>G (p.Thr716Ser)
n.3698C>G
 ClinVar gnomAD v4
13g.51941158G=CA2091559483ATP7Bc.*1129C= (n.*1129C=)
c.*2223C= (n.*2223C=)
c.2858C= (p.Thr953=)
c.3479C= (p.Thr1160=)
c.3146C= (p.Thr1049=)
c.3227C= (p.Thr1076=)
c.3245C= (p.Thr1082=)
n.3618C=
n.3842C=
c.2414C= (p.Thr805=)
c.2189C= (p.Thr730=)
c.3284C= (p.Thr1095=)
c.1257C=
c.*580C= (n.*580C=)
n.4223C=
n.2824C=
c.3335C= (p.Thr1112=)
c.3383C= (p.Thr1128=)
c.3443C= (p.Thr1148=)
c.2993C= (p.Thr998=)
c.1295C= (p.Thr432=)
c.1112C= (p.Thr371=)
c.3344C= (p.Thr1115=)
c.3296C= (p.Thr1099=)
c.3065C= (p.Thr1022=)
c.2966C= (p.Thr989=)
c.2147C= (p.Thr716=)
n.3698C=
13g.51941158G>TCA388026445ATP7Bc.*1129C>A (n.*1129C>A)
c.*2223C>A (n.*2223C>A)
c.2858C>A (p.Thr953Asn)
c.3479C>A (p.Thr1160Asn)
c.3146C>A (p.Thr1049Asn)
c.3227C>A (p.Thr1076Asn)
c.3245C>A (p.Thr1082Asn)
n.3618C>A
n.3842C>A
c.2414C>A (p.Thr805Asn)
c.2189C>A (p.Thr730Asn)
c.3284C>A (p.Thr1095Asn)
c.1257C>A
c.*580C>A (n.*580C>A)
n.4223C>A
n.2824C>A
c.3335C>A (p.Thr1112Asn)
c.3383C>A (p.Thr1128Asn)
c.3443C>A (p.Thr1148Asn)
c.2993C>A (p.Thr998Asn)
c.1295C>A (p.Thr432Asn)
c.1112C>A (p.Thr371Asn)
c.3344C>A (p.Thr1115Asn)
c.3296C>A (p.Thr1099Asn)
c.3065C>A (p.Thr1022Asn)
c.2966C>A (p.Thr989Asn)
c.2147C>A (p.Thr716Asn)
n.3698C>A
13g.51941159T>ACA388026453ATP7Bc.*1128A>T (n.*1128A>T)
c.*2222A>T (n.*2222A>T)
c.2857A>T (p.Thr953Ser)
c.3478A>T (p.Thr1160Ser)
c.3145A>T (p.Thr1049Ser)
c.3226A>T (p.Thr1076Ser)
c.3244A>T (p.Thr1082Ser)
n.3617A>T
n.3841A>T
c.2413A>T (p.Thr805Ser)
c.2188A>T (p.Thr730Ser)
c.3283A>T (p.Thr1095Ser)
c.1256A>T
c.*579A>T (n.*579A>T)
n.4222A>T
n.2823A>T
c.3334A>T (p.Thr1112Ser)
c.3382A>T (p.Thr1128Ser)
c.3442A>T (p.Thr1148Ser)
c.2992A>T (p.Thr998Ser)
c.1294A>T (p.Thr432Ser)
c.1111A>T (p.Thr371Ser)
c.3343A>T (p.Thr1115Ser)
c.3295A>T (p.Thr1099Ser)
c.3064A>T (p.Thr1022Ser)
c.2965A>T (p.Thr989Ser)
c.2146A>T (p.Thr716Ser)
n.3697A>T
13g.51941159T>CCA388026457ATP7Bc.*1128A>G (n.*1128A>G)
c.*2222A>G (n.*2222A>G)
c.2857A>G (p.Thr953Ala)
c.3478A>G (p.Thr1160Ala)
c.3145A>G (p.Thr1049Ala)
c.3226A>G (p.Thr1076Ala)
c.3244A>G (p.Thr1082Ala)
n.3617A>G
n.3841A>G
c.2413A>G (p.Thr805Ala)
c.2188A>G (p.Thr730Ala)
c.3283A>G (p.Thr1095Ala)
c.1256A>G
c.*579A>G (n.*579A>G)
n.4222A>G
n.2823A>G
c.3334A>G (p.Thr1112Ala)
c.3382A>G (p.Thr1128Ala)
c.3442A>G (p.Thr1148Ala)
c.2992A>G (p.Thr998Ala)
c.1294A>G (p.Thr432Ala)
c.1111A>G (p.Thr371Ala)
c.3343A>G (p.Thr1115Ala)
c.3295A>G (p.Thr1099Ala)
c.3064A>G (p.Thr1022Ala)
c.2965A>G (p.Thr989Ala)
c.2146A>G (p.Thr716Ala)
n.3697A>G
13g.51941159T>GCA388026460ATP7Bc.*1128A>C (n.*1128A>C)
c.*2222A>C (n.*2222A>C)
c.2857A>C (p.Thr953Pro)
c.3478A>C (p.Thr1160Pro)
c.3145A>C (p.Thr1049Pro)
c.3226A>C (p.Thr1076Pro)
c.3244A>C (p.Thr1082Pro)
n.3617A>C
n.3841A>C
c.2413A>C (p.Thr805Pro)
c.2188A>C (p.Thr730Pro)
c.3283A>C (p.Thr1095Pro)
c.1256A>C
c.*579A>C (n.*579A>C)
n.4222A>C
n.2823A>C
c.3334A>C (p.Thr1112Pro)
c.3382A>C (p.Thr1128Pro)
c.3442A>C (p.Thr1148Pro)
c.2992A>C (p.Thr998Pro)
c.1294A>C (p.Thr432Pro)
c.1111A>C (p.Thr371Pro)
c.3343A>C (p.Thr1115Pro)
c.3295A>C (p.Thr1099Pro)
c.3064A>C (p.Thr1022Pro)
c.2965A>C (p.Thr989Pro)
c.2146A>C (p.Thr716Pro)
n.3697A>C
13g.51941160T>ACA388026461ATP7Bc.*1127A>T (n.*1127A>T)
c.*2221A>T (n.*2221A>T)
c.2856A>T (p.Leu952Phe)
c.3477A>T (p.Leu1159Phe)
c.3144A>T (p.Leu1048Phe)
c.3225A>T (p.Leu1075Phe)
c.3243A>T (p.Leu1081Phe)
n.3616A>T
n.3840A>T
c.2412A>T (p.Leu804Phe)
c.2187A>T (p.Leu729Phe)
c.3282A>T (p.Leu1094Phe)
c.1255A>T
c.*578A>T (n.*578A>T)
n.4221A>T
n.2822A>T
c.3333A>T (p.Leu1111Phe)
c.3381A>T (p.Leu1127Phe)
c.3441A>T (p.Leu1147Phe)
c.2991A>T (p.Leu997Phe)
c.1293A>T (p.Leu431Phe)
c.1110A>T (p.Leu370Phe)
c.3342A>T (p.Leu1114Phe)
c.3294A>T (p.Leu1098Phe)
c.3063A>T (p.Leu1021Phe)
c.2964A>T (p.Leu988Phe)
c.2145A>T (p.Leu715Phe)
n.3696A>T
 ClinVar
13g.51941160T>CCA483894012ATP7Bc.*1127A>G (n.*1127A>G)
c.*2221A>G (n.*2221A>G)
c.2856A>G (p.Leu952=)
c.3477A>G (p.Leu1159=)
c.3144A>G (p.Leu1048=)
c.3225A>G (p.Leu1075=)
c.3243A>G (p.Leu1081=)
n.3616A>G
n.3840A>G
c.2412A>G (p.Leu804=)
c.2187A>G (p.Leu729=)
c.3282A>G (p.Leu1094=)
c.1255A>G
c.*578A>G (n.*578A>G)
n.4221A>G
n.2822A>G
c.3333A>G (p.Leu1111=)
c.3381A>G (p.Leu1127=)
c.3441A>G (p.Leu1147=)
c.2991A>G (p.Leu997=)
c.1293A>G (p.Leu431=)
c.1110A>G (p.Leu370=)
c.3342A>G (p.Leu1114=)
c.3294A>G (p.Leu1098=)
c.3063A>G (p.Leu1021=)
c.2964A>G (p.Leu988=)
c.2145A>G (p.Leu715=)
n.3696A>G
13g.51941160T>GCA388026464ATP7Bc.*1127A>C (n.*1127A>C)
c.*2221A>C (n.*2221A>C)
c.2856A>C (p.Leu952Phe)
c.3477A>C (p.Leu1159Phe)
c.3144A>C (p.Leu1048Phe)
c.3225A>C (p.Leu1075Phe)
c.3243A>C (p.Leu1081Phe)
n.3616A>C
n.3840A>C
c.2412A>C (p.Leu804Phe)
c.2187A>C (p.Leu729Phe)
c.3282A>C (p.Leu1094Phe)
c.1255A>C
c.*578A>C (n.*578A>C)
n.4221A>C
n.2822A>C
c.3333A>C (p.Leu1111Phe)
c.3381A>C (p.Leu1127Phe)
c.3441A>C (p.Leu1147Phe)
c.2991A>C (p.Leu997Phe)
c.1293A>C (p.Leu431Phe)
c.1110A>C (p.Leu370Phe)
c.3342A>C (p.Leu1114Phe)
c.3294A>C (p.Leu1098Phe)
c.3063A>C (p.Leu1021Phe)
c.2964A>C (p.Leu988Phe)
c.2145A>C (p.Leu715Phe)
n.3696A>C
13g.51941161A>CCA388026468ATP7Bc.*1126T>G (n.*1126T>G)
c.*2220T>G (n.*2220T>G)
c.2855T>G (p.Leu952Ter)
c.3476T>G (p.Leu1159Ter)
c.3143T>G (p.Leu1048Ter)
c.3224T>G (p.Leu1075Ter)
c.3242T>G (p.Leu1081Ter)
n.3615T>G
n.3839T>G
c.2411T>G (p.Leu804Ter)
c.2186T>G (p.Leu729Ter)
c.3281T>G (p.Leu1094Ter)
c.1254T>G
c.*577T>G (n.*577T>G)
n.4220T>G
n.2821T>G
c.3332T>G (p.Leu1111Ter)
c.3380T>G (p.Leu1127Ter)
c.3440T>G (p.Leu1147Ter)
c.2990T>G (p.Leu997Ter)
c.1292T>G (p.Leu431Ter)
c.1109T>G (p.Leu370Ter)
c.3341T>G (p.Leu1114Ter)
c.3293T>G (p.Leu1098Ter)
c.3062T>G (p.Leu1021Ter)
c.2963T>G (p.Leu988Ter)
c.2144T>G (p.Leu715Ter)
n.3695T>G
13g.51941161A>GCA388026469ATP7Bc.*1126T>C (n.*1126T>C)
c.*2220T>C (n.*2220T>C)
c.2855T>C (p.Leu952Ser)
c.3476T>C (p.Leu1159Ser)
c.3143T>C (p.Leu1048Ser)
c.3224T>C (p.Leu1075Ser)
c.3242T>C (p.Leu1081Ser)
n.3615T>C
n.3839T>C
c.2411T>C (p.Leu804Ser)
c.2186T>C (p.Leu729Ser)
c.3281T>C (p.Leu1094Ser)
c.1254T>C
c.*577T>C (n.*577T>C)
n.4220T>C
n.2821T>C
c.3332T>C (p.Leu1111Ser)
c.3380T>C (p.Leu1127Ser)
c.3440T>C (p.Leu1147Ser)
c.2990T>C (p.Leu997Ser)
c.1292T>C (p.Leu431Ser)
c.1109T>C (p.Leu370Ser)
c.3341T>C (p.Leu1114Ser)
c.3293T>C (p.Leu1098Ser)
c.3062T>C (p.Leu1021Ser)
c.2963T>C (p.Leu988Ser)
c.2144T>C (p.Leu715Ser)
n.3695T>C
13g.51941161A>TCA388026472ATP7Bc.*1126T>A (n.*1126T>A)
c.*2220T>A (n.*2220T>A)
c.2855T>A (p.Leu952Ter)
c.3476T>A (p.Leu1159Ter)
c.3143T>A (p.Leu1048Ter)
c.3224T>A (p.Leu1075Ter)
c.3242T>A (p.Leu1081Ter)
n.3615T>A
n.3839T>A
c.2411T>A (p.Leu804Ter)
c.2186T>A (p.Leu729Ter)
c.3281T>A (p.Leu1094Ter)
c.1254T>A
c.*577T>A (n.*577T>A)
n.4220T>A
n.2821T>A
c.3332T>A (p.Leu1111Ter)
c.3380T>A (p.Leu1127Ter)
c.3440T>A (p.Leu1147Ter)
c.2990T>A (p.Leu997Ter)
c.1292T>A (p.Leu431Ter)
c.1109T>A (p.Leu370Ter)
c.3341T>A (p.Leu1114Ter)
c.3293T>A (p.Leu1098Ter)
c.3062T>A (p.Leu1021Ter)
c.2963T>A (p.Leu988Ter)
c.2144T>A (p.Leu715Ter)
n.3695T>A
13g.51941162A>CCA388026475ATP7Bc.*1125T>G (n.*1125T>G)
c.*2219T>G (n.*2219T>G)
c.2854T>G (p.Leu952Val)
c.3475T>G (p.Leu1159Val)
c.3142T>G (p.Leu1048Val)
c.3223T>G (p.Leu1075Val)
c.3241T>G (p.Leu1081Val)
n.3614T>G
n.3838T>G
c.2410T>G (p.Leu804Val)
c.2185T>G (p.Leu729Val)
c.3280T>G (p.Leu1094Val)
c.1253T>G
c.*576T>G (n.*576T>G)
n.4219T>G
n.2820T>G
c.3331T>G (p.Leu1111Val)
c.3379T>G (p.Leu1127Val)
c.3439T>G (p.Leu1147Val)
c.2989T>G (p.Leu997Val)
c.1291T>G (p.Leu431Val)
c.1108T>G (p.Leu370Val)
c.3340T>G (p.Leu1114Val)
c.3292T>G (p.Leu1098Val)
c.3061T>G (p.Leu1021Val)
c.2962T>G (p.Leu988Val)
c.2143T>G (p.Leu715Val)
n.3694T>G
13g.51941162A>GCA483894019ATP7Bc.*1125T>C (n.*1125T>C)
c.*2219T>C (n.*2219T>C)
c.2854T>C (p.Leu952=)
c.3475T>C (p.Leu1159=)
c.3142T>C (p.Leu1048=)
c.3223T>C (p.Leu1075=)
c.3241T>C (p.Leu1081=)
n.3614T>C
n.3838T>C
c.2410T>C (p.Leu804=)
c.2185T>C (p.Leu729=)
c.3280T>C (p.Leu1094=)
c.1253T>C
c.*576T>C (n.*576T>C)
n.4219T>C
n.2820T>C
c.3331T>C (p.Leu1111=)
c.3379T>C (p.Leu1127=)
c.3439T>C (p.Leu1147=)
c.2989T>C (p.Leu997=)
c.1291T>C (p.Leu431=)
c.1108T>C (p.Leu370=)
c.3340T>C (p.Leu1114=)
c.3292T>C (p.Leu1098=)
c.3061T>C (p.Leu1021=)
c.2962T>C (p.Leu988=)
c.2143T>C (p.Leu715=)
n.3694T>C
 gnomAD v4
13g.51941162A>TCA388026476ATP7Bc.*1125T>A (n.*1125T>A)
c.*2219T>A (n.*2219T>A)
c.2854T>A (p.Leu952Ile)
c.3475T>A (p.Leu1159Ile)
c.3142T>A (p.Leu1048Ile)
c.3223T>A (p.Leu1075Ile)
c.3241T>A (p.Leu1081Ile)
n.3614T>A
n.3838T>A
c.2410T>A (p.Leu804Ile)
c.2185T>A (p.Leu729Ile)
c.3280T>A (p.Leu1094Ile)
c.1253T>A
c.*576T>A (n.*576T>A)
n.4219T>A
n.2820T>A
c.3331T>A (p.Leu1111Ile)
c.3379T>A (p.Leu1127Ile)
c.3439T>A (p.Leu1147Ile)
c.2989T>A (p.Leu997Ile)
c.1291T>A (p.Leu431Ile)
c.1108T>A (p.Leu370Ile)
c.3340T>A (p.Leu1114Ile)
c.3292T>A (p.Leu1098Ile)
c.3061T>A (p.Leu1021Ile)
c.2962T>A (p.Leu988Ile)
c.2143T>A (p.Leu715Ile)
n.3694T>A
13g.51941163A=CA2091559487ATP7Bc.*1124T= (n.*1124T=)
c.*2218T= (n.*2218T=)
c.2853T= (p.Gly951=)
c.3474T= (p.Gly1158=)
c.3141T= (p.Gly1047=)
c.3222T= (p.Gly1074=)
c.3240T= (p.Gly1080=)
n.3613T=
n.3837T=
c.2409T= (p.Gly803=)
c.2184T= (p.Gly728=)
c.3279T= (p.Gly1093=)
c.1252T=
c.*575T= (n.*575T=)
n.4218T=
n.2819T=
c.3330T= (p.Gly1110=)
c.3378T= (p.Gly1126=)
c.3438T= (p.Gly1146=)
c.2988T= (p.Gly996=)
c.1290T= (p.Gly430=)
c.1107T= (p.Gly369=)
c.3339T= (p.Gly1113=)
c.3291T= (p.Gly1097=)
c.3060T= (p.Gly1020=)
c.2961T= (p.Gly987=)
c.2142T= (p.Gly714=)
n.3693T=
13g.51941163A>CCA483894026ATP7Bc.*1124T>G (n.*1124T>G)
c.*2218T>G (n.*2218T>G)
c.2853T>G (p.Gly951=)
c.3474T>G (p.Gly1158=)
c.3141T>G (p.Gly1047=)
c.3222T>G (p.Gly1074=)
c.3240T>G (p.Gly1080=)
n.3613T>G
n.3837T>G
c.2409T>G (p.Gly803=)
c.2184T>G (p.Gly728=)
c.3279T>G (p.Gly1093=)
c.1252T>G
c.*575T>G (n.*575T>G)
n.4218T>G
n.2819T>G
c.3330T>G (p.Gly1110=)
c.3378T>G (p.Gly1126=)
c.3438T>G (p.Gly1146=)
c.2988T>G (p.Gly996=)
c.1290T>G (p.Gly430=)
c.1107T>G (p.Gly369=)
c.3339T>G (p.Gly1113=)
c.3291T>G (p.Gly1097=)
c.3060T>G (p.Gly1020=)
c.2961T>G (p.Gly987=)
c.2142T>G (p.Gly714=)
n.3693T>G
 dbSNP
13g.51941163A>GCA483894022ATP7Bc.*1124T>C (n.*1124T>C)
c.*2218T>C (n.*2218T>C)
c.2853T>C (p.Gly951=)
c.3474T>C (p.Gly1158=)
c.3141T>C (p.Gly1047=)
c.3222T>C (p.Gly1074=)
c.3240T>C (p.Gly1080=)
n.3613T>C
n.3837T>C
c.2409T>C (p.Gly803=)
c.2184T>C (p.Gly728=)
c.3279T>C (p.Gly1093=)
c.1252T>C
c.*575T>C (n.*575T>C)
n.4218T>C
n.2819T>C
c.3330T>C (p.Gly1110=)
c.3378T>C (p.Gly1126=)
c.3438T>C (p.Gly1146=)
c.2988T>C (p.Gly996=)
c.1290T>C (p.Gly430=)
c.1107T>C (p.Gly369=)
c.3339T>C (p.Gly1113=)
c.3291T>C (p.Gly1097=)
c.3060T>C (p.Gly1020=)
c.2961T>C (p.Gly987=)
c.2142T>C (p.Gly714=)
n.3693T>C
13g.51941163A>TCA483894024ATP7Bc.*1124T>A (n.*1124T>A)
c.*2218T>A (n.*2218T>A)
c.2853T>A (p.Gly951=)
c.3474T>A (p.Gly1158=)
c.3141T>A (p.Gly1047=)
c.3222T>A (p.Gly1074=)
c.3240T>A (p.Gly1080=)
n.3613T>A
n.3837T>A
c.2409T>A (p.Gly803=)
c.2184T>A (p.Gly728=)
c.3279T>A (p.Gly1093=)
c.1252T>A
c.*575T>A (n.*575T>A)
n.4218T>A
n.2819T>A
c.3330T>A (p.Gly1110=)
c.3378T>A (p.Gly1126=)
c.3438T>A (p.Gly1146=)
c.2988T>A (p.Gly996=)
c.1290T>A (p.Gly430=)
c.1107T>A (p.Gly369=)
c.3339T>A (p.Gly1113=)
c.3291T>A (p.Gly1097=)
c.3060T>A (p.Gly1020=)
c.2961T>A (p.Gly987=)
c.2142T>A (p.Gly714=)
n.3693T>A
13g.51941164C>ACA6988675ATP7Bc.*1123G>T (n.*1123G>T)
c.*2217G>T (n.*2217G>T)
c.2852G>T (p.Gly951Val)
c.3473G>T (p.Gly1158Val)
c.3140G>T (p.Gly1047Val)
c.3221G>T (p.Gly1074Val)
c.3239G>T (p.Gly1080Val)
n.3612G>T
n.3836G>T
c.2408G>T (p.Gly803Val)
c.2183G>T (p.Gly728Val)
c.3278G>T (p.Gly1093Val)
c.1251G>T
c.*574G>T (n.*574G>T)
n.4217G>T
n.2818G>T
c.3329G>T (p.Gly1110Val)
c.3377G>T (p.Gly1126Val)
c.3437G>T (p.Gly1146Val)
c.2987G>T (p.Gly996Val)
c.1289G>T (p.Gly430Val)
c.1106G>T (p.Gly369Val)
c.3338G>T (p.Gly1113Val)
c.3290G>T (p.Gly1097Val)
c.3059G>T (p.Gly1020Val)
c.2960G>T (p.Gly987Val)
c.2141G>T (p.Gly714Val)
n.3692G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941164C=CA2091559490ATP7Bc.*1123G= (n.*1123G=)
c.*2217G= (n.*2217G=)
c.2852G= (p.Gly951=)
c.3473G= (p.Gly1158=)
c.3140G= (p.Gly1047=)
c.3221G= (p.Gly1074=)
c.3239G= (p.Gly1080=)
n.3612G=
n.3836G=
c.2408G= (p.Gly803=)
c.2183G= (p.Gly728=)
c.3278G= (p.Gly1093=)
c.1251G=
c.*574G= (n.*574G=)
n.4217G=
n.2818G=
c.3329G= (p.Gly1110=)
c.3377G= (p.Gly1126=)
c.3437G= (p.Gly1146=)
c.2987G= (p.Gly996=)
c.1289G= (p.Gly430=)
c.1106G= (p.Gly369=)
c.3338G= (p.Gly1113=)
c.3290G= (p.Gly1097=)
c.3059G= (p.Gly1020=)
c.2960G= (p.Gly987=)
c.2141G= (p.Gly714=)
n.3692G=
13g.51941164C>GCA388026477ATP7Bc.*1123G>C (n.*1123G>C)
c.*2217G>C (n.*2217G>C)
c.2852G>C (p.Gly951Ala)
c.3473G>C (p.Gly1158Ala)
c.3140G>C (p.Gly1047Ala)
c.3221G>C (p.Gly1074Ala)
c.3239G>C (p.Gly1080Ala)
n.3612G>C
n.3836G>C
c.2408G>C (p.Gly803Ala)
c.2183G>C (p.Gly728Ala)
c.3278G>C (p.Gly1093Ala)
c.1251G>C
c.*574G>C (n.*574G>C)
n.4217G>C
n.2818G>C
c.3329G>C (p.Gly1110Ala)
c.3377G>C (p.Gly1126Ala)
c.3437G>C (p.Gly1146Ala)
c.2987G>C (p.Gly996Ala)
c.1289G>C (p.Gly430Ala)
c.1106G>C (p.Gly369Ala)
c.3338G>C (p.Gly1113Ala)
c.3290G>C (p.Gly1097Ala)
c.3059G>C (p.Gly1020Ala)
c.2960G>C (p.Gly987Ala)
c.2141G>C (p.Gly714Ala)
n.3692G>C
13g.51941164C>TCA388026478ATP7Bc.*1123G>A (n.*1123G>A)
c.*2217G>A (n.*2217G>A)
c.2852G>A (p.Gly951Asp)
c.3473G>A (p.Gly1158Asp)
c.3140G>A (p.Gly1047Asp)
c.3221G>A (p.Gly1074Asp)
c.3239G>A (p.Gly1080Asp)
n.3612G>A
n.3836G>A
c.2408G>A (p.Gly803Asp)
c.2183G>A (p.Gly728Asp)
c.3278G>A (p.Gly1093Asp)
c.1251G>A
c.*574G>A (n.*574G>A)
n.4217G>A
n.2818G>A
c.3329G>A (p.Gly1110Asp)
c.3377G>A (p.Gly1126Asp)
c.3437G>A (p.Gly1146Asp)
c.2987G>A (p.Gly996Asp)
c.1289G>A (p.Gly430Asp)
c.1106G>A (p.Gly369Asp)
c.3338G>A (p.Gly1113Asp)
c.3290G>A (p.Gly1097Asp)
c.3059G>A (p.Gly1020Asp)
c.2960G>A (p.Gly987Asp)
c.2141G>A (p.Gly714Asp)
n.3692G>A
 dbSNP gnomAD v4
13g.51941165C>ACA388026480ATP7Bc.*1122G>T (n.*1122G>T)
c.*2216G>T (n.*2216G>T)
c.2851G>T (p.Gly951Cys)
c.3472G>T (p.Gly1158Cys)
c.3139G>T (p.Gly1047Cys)
c.3220G>T (p.Gly1074Cys)
c.3238G>T (p.Gly1080Cys)
n.3611G>T
n.3835G>T
c.2407G>T (p.Gly803Cys)
c.2182G>T (p.Gly728Cys)
c.3277G>T (p.Gly1093Cys)
c.1250G>T
c.*573G>T (n.*573G>T)
n.4216G>T
n.2817G>T
c.3328G>T (p.Gly1110Cys)
c.3376G>T (p.Gly1126Cys)
c.3436G>T (p.Gly1146Cys)
c.2986G>T (p.Gly996Cys)
c.1288G>T (p.Gly430Cys)
c.1105G>T (p.Gly369Cys)
c.3337G>T (p.Gly1113Cys)
c.3289G>T (p.Gly1097Cys)
c.3058G>T (p.Gly1020Cys)
c.2959G>T (p.Gly987Cys)
c.2140G>T (p.Gly714Cys)
n.3691G>T
13g.51941165C=CA2091559495ATP7Bc.*1122G= (n.*1122G=)
c.*2216G= (n.*2216G=)
c.2851G= (p.Gly951=)
c.3472G= (p.Gly1158=)
c.3139G= (p.Gly1047=)
c.3220G= (p.Gly1074=)
c.3238G= (p.Gly1080=)
n.3611G=
n.3835G=
c.2407G= (p.Gly803=)
c.2182G= (p.Gly728=)
c.3277G= (p.Gly1093=)
c.1250G=
c.*573G= (n.*573G=)
n.4216G=
n.2817G=
c.3328G= (p.Gly1110=)
c.3376G= (p.Gly1126=)
c.3436G= (p.Gly1146=)
c.2986G= (p.Gly996=)
c.1288G= (p.Gly430=)
c.1105G= (p.Gly369=)
c.3337G= (p.Gly1113=)
c.3289G= (p.Gly1097=)
c.3058G= (p.Gly1020=)
c.2959G= (p.Gly987=)
c.2140G= (p.Gly714=)
n.3691G=
13g.51941165C>GCA6988676ATP7Bc.*1122G>C (n.*1122G>C)
c.*2216G>C (n.*2216G>C)
c.2851G>C (p.Gly951Arg)
c.3472G>C (p.Gly1158Arg)
c.3139G>C (p.Gly1047Arg)
c.3220G>C (p.Gly1074Arg)
c.3238G>C (p.Gly1080Arg)
n.3611G>C
n.3835G>C
c.2407G>C (p.Gly803Arg)
c.2182G>C (p.Gly728Arg)
c.3277G>C (p.Gly1093Arg)
c.1250G>C
c.*573G>C (n.*573G>C)
n.4216G>C
n.2817G>C
c.3328G>C (p.Gly1110Arg)
c.3376G>C (p.Gly1126Arg)
c.3436G>C (p.Gly1146Arg)
c.2986G>C (p.Gly996Arg)
c.1288G>C (p.Gly430Arg)
c.1105G>C (p.Gly369Arg)
c.3337G>C (p.Gly1113Arg)
c.3289G>C (p.Gly1097Arg)
c.3058G>C (p.Gly1020Arg)
c.2959G>C (p.Gly987Arg)
c.2140G>C (p.Gly714Arg)
n.3691G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941165C>TCA6988677ATP7Bc.*1122G>A (n.*1122G>A)
c.*2216G>A (n.*2216G>A)
c.2851G>A (p.Gly951Ser)
c.3472G>A (p.Gly1158Ser)
c.3139G>A (p.Gly1047Ser)
c.3220G>A (p.Gly1074Ser)
c.3238G>A (p.Gly1080Ser)
n.3611G>A
n.3835G>A
c.2407G>A (p.Gly803Ser)
c.2182G>A (p.Gly728Ser)
c.3277G>A (p.Gly1093Ser)
c.1250G>A
c.*573G>A (n.*573G>A)
n.4216G>A
n.2817G>A
c.3328G>A (p.Gly1110Ser)
c.3376G>A (p.Gly1126Ser)
c.3436G>A (p.Gly1146Ser)
c.2986G>A (p.Gly996Ser)
c.1288G>A (p.Gly430Ser)
c.1105G>A (p.Gly369Ser)
c.3337G>A (p.Gly1113Ser)
c.3289G>A (p.Gly1097Ser)
c.3058G>A (p.Gly1020Ser)
c.2959G>A (p.Gly987Ser)
c.2140G>A (p.Gly714Ser)
n.3691G>A
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
13g.51941166G>ACA6988678ATP7Bc.*1121C>T (n.*1121C>T)
c.*2215C>T (n.*2215C>T)
c.2850C>T (p.Asn950=)
c.3471C>T (p.Asn1157=)
c.3138C>T (p.Asn1046=)
c.3219C>T (p.Asn1073=)
c.3237C>T (p.Asn1079=)
n.3610C>T
n.3834C>T
c.2406C>T (p.Asn802=)
c.2181C>T (p.Asn727=)
c.3276C>T (p.Asn1092=)
c.1249C>T
c.*572C>T (n.*572C>T)
n.4215C>T
n.2816C>T
c.3327C>T (p.Asn1109=)
c.3375C>T (p.Asn1125=)
c.3435C>T (p.Asn1145=)
c.2985C>T (p.Asn995=)
c.1287C>T (p.Asn429=)
c.1104C>T (p.Asn368=)
c.3336C>T (p.Asn1112=)
c.3288C>T (p.Asn1096=)
c.3057C>T (p.Asn1019=)
c.2958C>T (p.Asn986=)
c.2139C>T (p.Asn713=)
n.3690C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941166G>CCA388026484ATP7Bc.*1121C>G (n.*1121C>G)
c.*2215C>G (n.*2215C>G)
c.2850C>G (p.Asn950Lys)
c.3471C>G (p.Asn1157Lys)
c.3138C>G (p.Asn1046Lys)
c.3219C>G (p.Asn1073Lys)
c.3237C>G (p.Asn1079Lys)
n.3610C>G
n.3834C>G
c.2406C>G (p.Asn802Lys)
c.2181C>G (p.Asn727Lys)
c.3276C>G (p.Asn1092Lys)
c.1249C>G
c.*572C>G (n.*572C>G)
n.4215C>G
n.2816C>G
c.3327C>G (p.Asn1109Lys)
c.3375C>G (p.Asn1125Lys)
c.3435C>G (p.Asn1145Lys)
c.2985C>G (p.Asn995Lys)
c.1287C>G (p.Asn429Lys)
c.1104C>G (p.Asn368Lys)
c.3336C>G (p.Asn1112Lys)
c.3288C>G (p.Asn1096Lys)
c.3057C>G (p.Asn1019Lys)
c.2958C>G (p.Asn986Lys)
c.2139C>G (p.Asn713Lys)
n.3690C>G
13g.51941166G=CA2091559499ATP7Bc.*1121C= (n.*1121C=)
c.*2215C= (n.*2215C=)
c.2850C= (p.Asn950=)
c.3471C= (p.Asn1157=)
c.3138C= (p.Asn1046=)
c.3219C= (p.Asn1073=)
c.3237C= (p.Asn1079=)
n.3610C=
n.3834C=
c.2406C= (p.Asn802=)
c.2181C= (p.Asn727=)
c.3276C= (p.Asn1092=)
c.1249C=
c.*572C= (n.*572C=)
n.4215C=
n.2816C=
c.3327C= (p.Asn1109=)
c.3375C= (p.Asn1125=)
c.3435C= (p.Asn1145=)
c.2985C= (p.Asn995=)
c.1287C= (p.Asn429=)
c.1104C= (p.Asn368=)
c.3336C= (p.Asn1112=)
c.3288C= (p.Asn1096=)
c.3057C= (p.Asn1019=)
c.2958C= (p.Asn986=)
c.2139C= (p.Asn713=)
n.3690C=
13g.51941166G>TCA388026487ATP7Bc.*1121C>A (n.*1121C>A)
c.*2215C>A (n.*2215C>A)
c.2850C>A (p.Asn950Lys)
c.3471C>A (p.Asn1157Lys)
c.3138C>A (p.Asn1046Lys)
c.3219C>A (p.Asn1073Lys)
c.3237C>A (p.Asn1079Lys)
n.3610C>A
n.3834C>A
c.2406C>A (p.Asn802Lys)
c.2181C>A (p.Asn727Lys)
c.3276C>A (p.Asn1092Lys)
c.1249C>A
c.*572C>A (n.*572C>A)
n.4215C>A
n.2816C>A
c.3327C>A (p.Asn1109Lys)
c.3375C>A (p.Asn1125Lys)
c.3435C>A (p.Asn1145Lys)
c.2985C>A (p.Asn995Lys)
c.1287C>A (p.Asn429Lys)
c.1104C>A (p.Asn368Lys)
c.3336C>A (p.Asn1112Lys)
c.3288C>A (p.Asn1096Lys)
c.3057C>A (p.Asn1019Lys)
c.2958C>A (p.Asn986Lys)
c.2139C>A (p.Asn713Lys)
n.3690C>A
13g.51941167T>ACA388026490ATP7Bc.*1120A>T (n.*1120A>T)
c.*2214A>T (n.*2214A>T)
c.2849A>T (p.Asn950Ile)
c.3470A>T (p.Asn1157Ile)
c.3137A>T (p.Asn1046Ile)
c.3218A>T (p.Asn1073Ile)
c.3236A>T (p.Asn1079Ile)
n.3609A>T
n.3833A>T
c.2405A>T (p.Asn802Ile)
c.2180A>T (p.Asn727Ile)
c.3275A>T (p.Asn1092Ile)
c.1248A>T
c.*571A>T (n.*571A>T)
n.4214A>T
n.2815A>T
c.3326A>T (p.Asn1109Ile)
c.3374A>T (p.Asn1125Ile)
c.3434A>T (p.Asn1145Ile)
c.2984A>T (p.Asn995Ile)
c.1286A>T (p.Asn429Ile)
c.1103A>T (p.Asn368Ile)
c.3335A>T (p.Asn1112Ile)
c.3287A>T (p.Asn1096Ile)
c.3056A>T (p.Asn1019Ile)
c.2957A>T (p.Asn986Ile)
c.2138A>T (p.Asn713Ile)
n.3689A>T
13g.51941167T>CCA388026500ATP7Bc.*1120A>G (n.*1120A>G)
c.*2214A>G (n.*2214A>G)
c.2849A>G (p.Asn950Ser)
c.3470A>G (p.Asn1157Ser)
c.3137A>G (p.Asn1046Ser)
c.3218A>G (p.Asn1073Ser)
c.3236A>G (p.Asn1079Ser)
n.3609A>G
n.3833A>G
c.2405A>G (p.Asn802Ser)
c.2180A>G (p.Asn727Ser)
c.3275A>G (p.Asn1092Ser)
c.1248A>G
c.*571A>G (n.*571A>G)
n.4214A>G
n.2815A>G
c.3326A>G (p.Asn1109Ser)
c.3374A>G (p.Asn1125Ser)
c.3434A>G (p.Asn1145Ser)
c.2984A>G (p.Asn995Ser)
c.1286A>G (p.Asn429Ser)
c.1103A>G (p.Asn368Ser)
c.3335A>G (p.Asn1112Ser)
c.3287A>G (p.Asn1096Ser)
c.3056A>G (p.Asn1019Ser)
c.2957A>G (p.Asn986Ser)
c.2138A>G (p.Asn713Ser)
n.3689A>G
13g.51941167T>GCA388026503ATP7Bc.*1120A>C (n.*1120A>C)
c.*2214A>C (n.*2214A>C)
c.2849A>C (p.Asn950Thr)
c.3470A>C (p.Asn1157Thr)
c.3137A>C (p.Asn1046Thr)
c.3218A>C (p.Asn1073Thr)
c.3236A>C (p.Asn1079Thr)
n.3609A>C
n.3833A>C
c.2405A>C (p.Asn802Thr)
c.2180A>C (p.Asn727Thr)
c.3275A>C (p.Asn1092Thr)
c.1248A>C
c.*571A>C (n.*571A>C)
n.4214A>C
n.2815A>C
c.3326A>C (p.Asn1109Thr)
c.3374A>C (p.Asn1125Thr)
c.3434A>C (p.Asn1145Thr)
c.2984A>C (p.Asn995Thr)
c.1286A>C (p.Asn429Thr)
c.1103A>C (p.Asn368Thr)
c.3335A>C (p.Asn1112Thr)
c.3287A>C (p.Asn1096Thr)
c.3056A>C (p.Asn1019Thr)
c.2957A>C (p.Asn986Thr)
c.2138A>C (p.Asn713Thr)
n.3689A>C
13g.51941168T>ACA388026507ATP7Bc.*1119A>T (n.*1119A>T)
c.*2213A>T (n.*2213A>T)
c.2848A>T (p.Asn950Tyr)
c.3469A>T (p.Asn1157Tyr)
c.3136A>T (p.Asn1046Tyr)
c.3217A>T (p.Asn1073Tyr)
c.3235A>T (p.Asn1079Tyr)
n.3608A>T
n.3832A>T
c.2404A>T (p.Asn802Tyr)
c.2179A>T (p.Asn727Tyr)
c.3274A>T (p.Asn1092Tyr)
c.1247A>T
c.*570A>T (n.*570A>T)
n.4213A>T
n.2814A>T
c.3325A>T (p.Asn1109Tyr)
c.3373A>T (p.Asn1125Tyr)
c.3433A>T (p.Asn1145Tyr)
c.2983A>T (p.Asn995Tyr)
c.1285A>T (p.Asn429Tyr)
c.1102A>T (p.Asn368Tyr)
c.3334A>T (p.Asn1112Tyr)
c.3286A>T (p.Asn1096Tyr)
c.3055A>T (p.Asn1019Tyr)
c.2956A>T (p.Asn986Tyr)
c.2137A>T (p.Asn713Tyr)
n.3688A>T
13g.51941168T>CCA388026509ATP7Bc.*1119A>G (n.*1119A>G)
c.*2213A>G (n.*2213A>G)
c.2848A>G (p.Asn950Asp)
c.3469A>G (p.Asn1157Asp)
c.3136A>G (p.Asn1046Asp)
c.3217A>G (p.Asn1073Asp)
c.3235A>G (p.Asn1079Asp)
n.3608A>G
n.3832A>G
c.2404A>G (p.Asn802Asp)
c.2179A>G (p.Asn727Asp)
c.3274A>G (p.Asn1092Asp)
c.1247A>G
c.*570A>G (n.*570A>G)
n.4213A>G
n.2814A>G
c.3325A>G (p.Asn1109Asp)
c.3373A>G (p.Asn1125Asp)
c.3433A>G (p.Asn1145Asp)
c.2983A>G (p.Asn995Asp)
c.1285A>G (p.Asn429Asp)
c.1102A>G (p.Asn368Asp)
c.3334A>G (p.Asn1112Asp)
c.3286A>G (p.Asn1096Asp)
c.3055A>G (p.Asn1019Asp)
c.2956A>G (p.Asn986Asp)
c.2137A>G (p.Asn713Asp)
n.3688A>G
13g.51941168T>GCA388026511ATP7Bc.*1119A>C (n.*1119A>C)
c.*2213A>C (n.*2213A>C)
c.2848A>C (p.Asn950His)
c.3469A>C (p.Asn1157His)
c.3136A>C (p.Asn1046His)
c.3217A>C (p.Asn1073His)
c.3235A>C (p.Asn1079His)
n.3608A>C
n.3832A>C
c.2404A>C (p.Asn802His)
c.2179A>C (p.Asn727His)
c.3274A>C (p.Asn1092His)
c.1247A>C
c.*570A>C (n.*570A>C)
n.4213A>C
n.2814A>C
c.3325A>C (p.Asn1109His)
c.3373A>C (p.Asn1125His)
c.3433A>C (p.Asn1145His)
c.2983A>C (p.Asn995His)
c.1285A>C (p.Asn429His)
c.1102A>C (p.Asn368His)
c.3334A>C (p.Asn1112His)
c.3286A>C (p.Asn1096His)
c.3055A>C (p.Asn1019His)
c.2956A>C (p.Asn986His)
c.2137A>C (p.Asn713His)
n.3688A>C
13g.51941169G>ACA483894051ATP7Bc.*1118C>T (n.*1118C>T)
c.*2212C>T (n.*2212C>T)
c.2847C>T (p.Arg949=)
c.3468C>T (p.Arg1156=)
c.3135C>T (p.Arg1045=)
c.3216C>T (p.Arg1072=)
c.3234C>T (p.Arg1078=)
n.3607C>T
n.3831C>T
c.2403C>T (p.Arg801=)
c.2178C>T (p.Arg726=)
c.3273C>T (p.Arg1091=)
c.1246C>T
c.*569C>T (n.*569C>T)
n.4212C>T
n.2813C>T
c.3324C>T (p.Arg1108=)
c.3372C>T (p.Arg1124=)
c.3432C>T (p.Arg1144=)
c.2982C>T (p.Arg994=)
c.1284C>T (p.Arg428=)
c.1101C>T (p.Arg367=)
c.3333C>T (p.Arg1111=)
c.3285C>T (p.Arg1095=)
c.3054C>T (p.Arg1018=)
c.2955C>T (p.Arg985=)
c.2136C>T (p.Arg712=)
n.3687C>T
 gnomAD v4
13g.51941169G>CCA483894049ATP7Bc.*1118C>G (n.*1118C>G)
c.*2212C>G (n.*2212C>G)
c.2847C>G (p.Arg949=)
c.3468C>G (p.Arg1156=)
c.3135C>G (p.Arg1045=)
c.3216C>G (p.Arg1072=)
c.3234C>G (p.Arg1078=)
n.3607C>G
n.3831C>G
c.2403C>G (p.Arg801=)
c.2178C>G (p.Arg726=)
c.3273C>G (p.Arg1091=)
c.1246C>G
c.*569C>G (n.*569C>G)
n.4212C>G
n.2813C>G
c.3324C>G (p.Arg1108=)
c.3372C>G (p.Arg1124=)
c.3432C>G (p.Arg1144=)
c.2982C>G (p.Arg994=)
c.1284C>G (p.Arg428=)
c.1101C>G (p.Arg367=)
c.3333C>G (p.Arg1111=)
c.3285C>G (p.Arg1095=)
c.3054C>G (p.Arg1018=)
c.2955C>G (p.Arg985=)
c.2136C>G (p.Arg712=)
n.3687C>G
13g.51941169G>TCA483894053ATP7Bc.*1118C>A (n.*1118C>A)
c.*2212C>A (n.*2212C>A)
c.2847C>A (p.Arg949=)
c.3468C>A (p.Arg1156=)
c.3135C>A (p.Arg1045=)
c.3216C>A (p.Arg1072=)
c.3234C>A (p.Arg1078=)
n.3607C>A
n.3831C>A
c.2403C>A (p.Arg801=)
c.2178C>A (p.Arg726=)
c.3273C>A (p.Arg1091=)
c.1246C>A
c.*569C>A (n.*569C>A)
n.4212C>A
n.2813C>A
c.3324C>A (p.Arg1108=)
c.3372C>A (p.Arg1124=)
c.3432C>A (p.Arg1144=)
c.2982C>A (p.Arg994=)
c.1284C>A (p.Arg428=)
c.1101C>A (p.Arg367=)
c.3333C>A (p.Arg1111=)
c.3285C>A (p.Arg1095=)
c.3054C>A (p.Arg1018=)
c.2955C>A (p.Arg985=)
c.2136C>A (p.Arg712=)
n.3687C>A
13g.51941169dupCA2575420561ATP7Bc.*1118dup (n.*1118dup)
c.*2212dup (n.*2212dup)
c.2847dup (p.Asn950GlnfsTer7)
c.3468dup (p.Asn1157GlnfsTer7)
c.3135dup (p.Asn1046GlnfsTer7)
c.3216dup (p.Asn1073GlnfsTer7)
c.3234dup (p.Asn1079GlnfsTer7)
n.3607dup
n.3831dup
c.2403dup (p.Asn802GlnfsTer7)
c.2178dup (p.Asn727GlnfsTer7)
c.3273dup (p.Asn1092GlnfsTer7)
c.1246dup
c.*569dup (n.*569dup)
n.4212dup
n.2813dup
c.3324dup (p.Asn1109GlnfsTer7)
c.3372dup (p.Asn1125GlnfsTer7)
c.3432dup (p.Asn1145GlnfsTer7)
c.2982dup (p.Asn995GlnfsTer7)
c.1284dup (p.Asn429GlnfsTer7)
c.1101dup (p.Asn368GlnfsTer7)
c.3333dup (p.Asn1112GlnfsTer7)
c.3285dup (p.Asn1096GlnfsTer7)
c.3054dup (p.Asn1019GlnfsTer7)
c.2955dup (p.Asn986GlnfsTer7)
c.2136dup (p.Asn713GlnfsTer7)
n.3687dup
13g.51941170C>ACA388026515ATP7Bc.*1117G>T (n.*1117G>T)
c.*2211G>T (n.*2211G>T)
c.2846G>T (p.Arg949Leu)
c.3467G>T (p.Arg1156Leu)
c.3134G>T (p.Arg1045Leu)
c.3215G>T (p.Arg1072Leu)
c.3233G>T (p.Arg1078Leu)
n.3606G>T
n.3830G>T
c.2402G>T (p.Arg801Leu)
c.2177G>T (p.Arg726Leu)
c.3272G>T (p.Arg1091Leu)
c.1245G>T
c.*568G>T (n.*568G>T)
n.4211G>T
n.2812G>T
c.3323G>T (p.Arg1108Leu)
c.3371G>T (p.Arg1124Leu)
c.3431G>T (p.Arg1144Leu)
c.2981G>T (p.Arg994Leu)
c.1283G>T (p.Arg428Leu)
c.1100G>T (p.Arg367Leu)
c.3332G>T (p.Arg1111Leu)
c.3284G>T (p.Arg1095Leu)
c.3053G>T (p.Arg1018Leu)
c.2954G>T (p.Arg985Leu)
c.2135G>T (p.Arg712Leu)
n.3686G>T
13g.51941170C=CA2091559503ATP7Bc.*1117G= (n.*1117G=)
c.*2211G= (n.*2211G=)
c.2846G= (p.Arg949=)
c.3467G= (p.Arg1156=)
c.3134G= (p.Arg1045=)
c.3215G= (p.Arg1072=)
c.3233G= (p.Arg1078=)
n.3606G=
n.3830G=
c.2402G= (p.Arg801=)
c.2177G= (p.Arg726=)
c.3272G= (p.Arg1091=)
c.1245G=
c.*568G= (n.*568G=)
n.4211G=
n.2812G=
c.3323G= (p.Arg1108=)
c.3371G= (p.Arg1124=)
c.3431G= (p.Arg1144=)
c.2981G= (p.Arg994=)
c.1283G= (p.Arg428=)
c.1100G= (p.Arg367=)
c.3332G= (p.Arg1111=)
c.3284G= (p.Arg1095=)
c.3053G= (p.Arg1018=)
c.2954G= (p.Arg985=)
c.2135G= (p.Arg712=)
n.3686G=
13g.51941170C>GCA388026517ATP7Bc.*1117G>C (n.*1117G>C)
c.*2211G>C (n.*2211G>C)
c.2846G>C (p.Arg949Pro)
c.3467G>C (p.Arg1156Pro)
c.3134G>C (p.Arg1045Pro)
c.3215G>C (p.Arg1072Pro)
c.3233G>C (p.Arg1078Pro)
n.3606G>C
n.3830G>C
c.2402G>C (p.Arg801Pro)
c.2177G>C (p.Arg726Pro)
c.3272G>C (p.Arg1091Pro)
c.1245G>C
c.*568G>C (n.*568G>C)
n.4211G>C
n.2812G>C
c.3323G>C (p.Arg1108Pro)
c.3371G>C (p.Arg1124Pro)
c.3431G>C (p.Arg1144Pro)
c.2981G>C (p.Arg994Pro)
c.1283G>C (p.Arg428Pro)
c.1100G>C (p.Arg367Pro)
c.3332G>C (p.Arg1111Pro)
c.3284G>C (p.Arg1095Pro)
c.3053G>C (p.Arg1018Pro)
c.2954G>C (p.Arg985Pro)
c.2135G>C (p.Arg712Pro)
n.3686G>C
13g.51941170C>TCA6988679ATP7Bc.*1117G>A (n.*1117G>A)
c.*2211G>A (n.*2211G>A)
c.2846G>A (p.Arg949His)
c.3467G>A (p.Arg1156His)
c.3134G>A (p.Arg1045His)
c.3215G>A (p.Arg1072His)
c.3233G>A (p.Arg1078His)
n.3606G>A
n.3830G>A
c.2402G>A (p.Arg801His)
c.2177G>A (p.Arg726His)
c.3272G>A (p.Arg1091His)
c.1245G>A
c.*568G>A (n.*568G>A)
n.4211G>A
n.2812G>A
c.3323G>A (p.Arg1108His)
c.3371G>A (p.Arg1124His)
c.3431G>A (p.Arg1144His)
c.2981G>A (p.Arg994His)
c.1283G>A (p.Arg428His)
c.1100G>A (p.Arg367His)
c.3332G>A (p.Arg1111His)
c.3284G>A (p.Arg1095His)
c.3053G>A (p.Arg1018His)
c.2954G>A (p.Arg985His)
c.2135G>A (p.Arg712His)
n.3686G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941171G>ACA388026522ATP7Bc.*1116C>T (n.*1116C>T)
c.*2210C>T (n.*2210C>T)
c.2845C>T (p.Arg949Cys)
c.3466C>T (p.Arg1156Cys)
c.3133C>T (p.Arg1045Cys)
c.3214C>T (p.Arg1072Cys)
c.3232C>T (p.Arg1078Cys)
n.3605C>T
n.3829C>T
c.2401C>T (p.Arg801Cys)
c.2176C>T (p.Arg726Cys)
c.3271C>T (p.Arg1091Cys)
c.1244C>T
c.*567C>T (n.*567C>T)
n.4210C>T
n.2811C>T
c.3322C>T (p.Arg1108Cys)
c.3370C>T (p.Arg1124Cys)
c.3430C>T (p.Arg1144Cys)
c.2980C>T (p.Arg994Cys)
c.1282C>T (p.Arg428Cys)
c.1099C>T (p.Arg367Cys)
c.3331C>T (p.Arg1111Cys)
c.3283C>T (p.Arg1095Cys)
c.3052C>T (p.Arg1018Cys)
c.2953C>T (p.Arg985Cys)
c.2134C>T (p.Arg712Cys)
n.3685C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.51941171G>CCA388026526ATP7Bc.*1116C>G (n.*1116C>G)
c.*2210C>G (n.*2210C>G)
c.2845C>G (p.Arg949Gly)
c.3466C>G (p.Arg1156Gly)
c.3133C>G (p.Arg1045Gly)
c.3214C>G (p.Arg1072Gly)
c.3232C>G (p.Arg1078Gly)
n.3605C>G
n.3829C>G
c.2401C>G (p.Arg801Gly)
c.2176C>G (p.Arg726Gly)
c.3271C>G (p.Arg1091Gly)
c.1244C>G
c.*567C>G (n.*567C>G)
n.4210C>G
n.2811C>G
c.3322C>G (p.Arg1108Gly)
c.3370C>G (p.Arg1124Gly)
c.3430C>G (p.Arg1144Gly)
c.2980C>G (p.Arg994Gly)
c.1282C>G (p.Arg428Gly)
c.1099C>G (p.Arg367Gly)
c.3331C>G (p.Arg1111Gly)
c.3283C>G (p.Arg1095Gly)
c.3052C>G (p.Arg1018Gly)
c.2953C>G (p.Arg985Gly)
c.2134C>G (p.Arg712Gly)
n.3685C>G
13g.51941171G=CA2091559506ATP7Bc.*1116C= (n.*1116C=)
c.*2210C= (n.*2210C=)
c.2845C= (p.Arg949=)
c.3466C= (p.Arg1156=)
c.3133C= (p.Arg1045=)
c.3214C= (p.Arg1072=)
c.3232C= (p.Arg1078=)
n.3605C=
n.3829C=
c.2401C= (p.Arg801=)
c.2176C= (p.Arg726=)
c.3271C= (p.Arg1091=)
c.1244C=
c.*567C= (n.*567C=)
n.4210C=
n.2811C=
c.3322C= (p.Arg1108=)
c.3370C= (p.Arg1124=)
c.3430C= (p.Arg1144=)
c.2980C= (p.Arg994=)
c.1282C= (p.Arg428=)
c.1099C= (p.Arg367=)
c.3331C= (p.Arg1111=)
c.3283C= (p.Arg1095=)
c.3052C= (p.Arg1018=)
c.2953C= (p.Arg985=)
c.2134C= (p.Arg712=)
n.3685C=
13g.51941171G>TCA388026521ATP7Bc.*1116C>A (n.*1116C>A)
c.*2210C>A (n.*2210C>A)
c.2845C>A (p.Arg949Ser)
c.3466C>A (p.Arg1156Ser)
c.3133C>A (p.Arg1045Ser)
c.3214C>A (p.Arg1072Ser)
c.3232C>A (p.Arg1078Ser)
n.3605C>A
n.3829C>A
c.2401C>A (p.Arg801Ser)
c.2176C>A (p.Arg726Ser)
c.3271C>A (p.Arg1091Ser)
c.1244C>A
c.*567C>A (n.*567C>A)
n.4210C>A
n.2811C>A
c.3322C>A (p.Arg1108Ser)
c.3370C>A (p.Arg1124Ser)
c.3430C>A (p.Arg1144Ser)
c.2980C>A (p.Arg994Ser)
c.1282C>A (p.Arg428Ser)
c.1099C>A (p.Arg367Ser)
c.3331C>A (p.Arg1111Ser)
c.3283C>A (p.Arg1095Ser)
c.3052C>A (p.Arg1018Ser)
c.2953C>A (p.Arg985Ser)
c.2134C>A (p.Arg712Ser)
n.3685C>A
 dbSNP gnomAD v2
13g.51941172C>ACA6988680ATP7Bc.*1115G>T (n.*1115G>T)
c.*2209G>T (n.*2209G>T)
c.2844G>T (p.Arg948Ser)
c.3465G>T (p.Arg1155Ser)
c.3132G>T (p.Arg1044Ser)
c.3213G>T (p.Arg1071Ser)
c.3231G>T (p.Arg1077Ser)
n.3604G>T
n.3828G>T
c.2400G>T (p.Arg800Ser)
c.2175G>T (p.Arg725Ser)
c.3270G>T (p.Arg1090Ser)
c.1243G>T
c.*566G>T (n.*566G>T)
n.4209G>T
n.2810G>T
c.3321G>T (p.Arg1107Ser)
c.3369G>T (p.Arg1123Ser)
c.3429G>T (p.Arg1143Ser)
c.2979G>T (p.Arg993Ser)
c.1281G>T (p.Arg427Ser)
c.1098G>T (p.Arg366Ser)
c.3330G>T (p.Arg1110Ser)
c.3282G>T (p.Arg1094Ser)
c.3051G>T (p.Arg1017Ser)
c.2952G>T (p.Arg984Ser)
c.2133G>T (p.Arg711Ser)
n.3684G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941172C=CA2091559511ATP7Bc.*1115G= (n.*1115G=)
c.*2209G= (n.*2209G=)
c.2844G= (p.Arg948=)
c.3465G= (p.Arg1155=)
c.3132G= (p.Arg1044=)
c.3213G= (p.Arg1071=)
c.3231G= (p.Arg1077=)
n.3604G=
n.3828G=
c.2400G= (p.Arg800=)
c.2175G= (p.Arg725=)
c.3270G= (p.Arg1090=)
c.1243G=
c.*566G= (n.*566G=)
n.4209G=
n.2810G=
c.3321G= (p.Arg1107=)
c.3369G= (p.Arg1123=)
c.3429G= (p.Arg1143=)
c.2979G= (p.Arg993=)
c.1281G= (p.Arg427=)
c.1098G= (p.Arg366=)
c.3330G= (p.Arg1110=)
c.3282G= (p.Arg1094=)
c.3051G= (p.Arg1017=)
c.2952G= (p.Arg984=)
c.2133G= (p.Arg711=)
n.3684G=
13g.51941172C>GCA388026532ATP7Bc.*1115G>C (n.*1115G>C)
c.*2209G>C (n.*2209G>C)
c.2844G>C (p.Arg948Ser)
c.3465G>C (p.Arg1155Ser)
c.3132G>C (p.Arg1044Ser)
c.3213G>C (p.Arg1071Ser)
c.3231G>C (p.Arg1077Ser)
n.3604G>C
n.3828G>C
c.2400G>C (p.Arg800Ser)
c.2175G>C (p.Arg725Ser)
c.3270G>C (p.Arg1090Ser)
c.1243G>C
c.*566G>C (n.*566G>C)
n.4209G>C
n.2810G>C
c.3321G>C (p.Arg1107Ser)
c.3369G>C (p.Arg1123Ser)
c.3429G>C (p.Arg1143Ser)
c.2979G>C (p.Arg993Ser)
c.1281G>C (p.Arg427Ser)
c.1098G>C (p.Arg366Ser)
c.3330G>C (p.Arg1110Ser)
c.3282G>C (p.Arg1094Ser)
c.3051G>C (p.Arg1017Ser)
c.2952G>C (p.Arg984Ser)
c.2133G>C (p.Arg711Ser)
n.3684G>C
13g.51941172C>TCA483894063ATP7Bc.*1115G>A (n.*1115G>A)
c.*2209G>A (n.*2209G>A)
c.2844G>A (p.Arg948=)
c.3465G>A (p.Arg1155=)
c.3132G>A (p.Arg1044=)
c.3213G>A (p.Arg1071=)
c.3231G>A (p.Arg1077=)
n.3604G>A
n.3828G>A
c.2400G>A (p.Arg800=)
c.2175G>A (p.Arg725=)
c.3270G>A (p.Arg1090=)
c.1243G>A
c.*566G>A (n.*566G>A)
n.4209G>A
n.2810G>A
c.3321G>A (p.Arg1107=)
c.3369G>A (p.Arg1123=)
c.3429G>A (p.Arg1143=)
c.2979G>A (p.Arg993=)
c.1281G>A (p.Arg427=)
c.1098G>A (p.Arg366=)
c.3330G>A (p.Arg1110=)
c.3282G>A (p.Arg1094=)
c.3051G>A (p.Arg1017=)
c.2952G>A (p.Arg984=)
c.2133G>A (p.Arg711=)
n.3684G>A
13g.51941173C>ACA388026539ATP7Bc.*1114G>T (n.*1114G>T)
c.*2208G>T (n.*2208G>T)
c.2843G>T (p.Arg948Met)
c.3464G>T (p.Arg1155Met)
c.3131G>T (p.Arg1044Met)
c.3212G>T (p.Arg1071Met)
c.3230G>T (p.Arg1077Met)
n.3603G>T
n.3827G>T
c.2399G>T (p.Arg800Met)
c.2174G>T (p.Arg725Met)
c.3269G>T (p.Arg1090Met)
c.1242G>T
c.*565G>T (n.*565G>T)
n.4208G>T
n.2809G>T
c.3320G>T (p.Arg1107Met)
c.3368G>T (p.Arg1123Met)
c.3428G>T (p.Arg1143Met)
c.2978G>T (p.Arg993Met)
c.1280G>T (p.Arg427Met)
c.1097G>T (p.Arg366Met)
c.3329G>T (p.Arg1110Met)
c.3281G>T (p.Arg1094Met)
c.3050G>T (p.Arg1017Met)
c.2951G>T (p.Arg984Met)
c.2132G>T (p.Arg711Met)
n.3683G>T
13g.51941173C=CA2091559516ATP7Bc.*1114G= (n.*1114G=)
c.*2208G= (n.*2208G=)
c.2843G= (p.Arg948=)
c.3464G= (p.Arg1155=)
c.3131G= (p.Arg1044=)
c.3212G= (p.Arg1071=)
c.3230G= (p.Arg1077=)
n.3603G=
n.3827G=
c.2399G= (p.Arg800=)
c.2174G= (p.Arg725=)
c.3269G= (p.Arg1090=)
c.1242G=
c.*565G= (n.*565G=)
n.4208G=
n.2809G=
c.3320G= (p.Arg1107=)
c.3368G= (p.Arg1123=)
c.3428G= (p.Arg1143=)
c.2978G= (p.Arg993=)
c.1280G= (p.Arg427=)
c.1097G= (p.Arg366=)
c.3329G= (p.Arg1110=)
c.3281G= (p.Arg1094=)
c.3050G= (p.Arg1017=)
c.2951G= (p.Arg984=)
c.2132G= (p.Arg711=)
n.3683G=
13g.51941173C>GCA388026536ATP7Bc.*1114G>C (n.*1114G>C)
c.*2208G>C (n.*2208G>C)
c.2843G>C (p.Arg948Thr)
c.3464G>C (p.Arg1155Thr)
c.3131G>C (p.Arg1044Thr)
c.3212G>C (p.Arg1071Thr)
c.3230G>C (p.Arg1077Thr)
n.3603G>C
n.3827G>C
c.2399G>C (p.Arg800Thr)
c.2174G>C (p.Arg725Thr)
c.3269G>C (p.Arg1090Thr)
c.1242G>C
c.*565G>C (n.*565G>C)
n.4208G>C
n.2809G>C
c.3320G>C (p.Arg1107Thr)
c.3368G>C (p.Arg1123Thr)
c.3428G>C (p.Arg1143Thr)
c.2978G>C (p.Arg993Thr)
c.1280G>C (p.Arg427Thr)
c.1097G>C (p.Arg366Thr)
c.3329G>C (p.Arg1110Thr)
c.3281G>C (p.Arg1094Thr)
c.3050G>C (p.Arg1017Thr)
c.2951G>C (p.Arg984Thr)
c.2132G>C (p.Arg711Thr)
n.3683G>C
13g.51941173C>TCA388026538ATP7Bc.*1114G>A (n.*1114G>A)
c.*2208G>A (n.*2208G>A)
c.2843G>A (p.Arg948Lys)
c.3464G>A (p.Arg1155Lys)
c.3131G>A (p.Arg1044Lys)
c.3212G>A (p.Arg1071Lys)
c.3230G>A (p.Arg1077Lys)
n.3603G>A
n.3827G>A
c.2399G>A (p.Arg800Lys)
c.2174G>A (p.Arg725Lys)
c.3269G>A (p.Arg1090Lys)
c.1242G>A
c.*565G>A (n.*565G>A)
n.4208G>A
n.2809G>A
c.3320G>A (p.Arg1107Lys)
c.3368G>A (p.Arg1123Lys)
c.3428G>A (p.Arg1143Lys)
c.2978G>A (p.Arg993Lys)
c.1280G>A (p.Arg427Lys)
c.1097G>A (p.Arg366Lys)
c.3329G>A (p.Arg1110Lys)
c.3281G>A (p.Arg1094Lys)
c.3050G>A (p.Arg1017Lys)
c.2951G>A (p.Arg984Lys)
c.2132G>A (p.Arg711Lys)
n.3683G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941174_51941175delCA2580087736ATP7Bc.*1113_*1114del (n.*1113_*1114del)
c.*2207_*2208del (n.*2207_*2208del)
c.2842_2843del (p.Arg948AlafsTer8)
c.3463_3464del (p.Arg1155AlafsTer8)
c.3130_3131del (p.Arg1044AlafsTer8)
c.3211_3212del (p.Arg1071AlafsTer8)
c.3229_3230del (p.Arg1077AlafsTer8)
n.3602_3603del
n.3826_3827del
c.2398_2399del (p.Arg800AlafsTer8)
c.2173_2174del (p.Arg725AlafsTer8)
c.3268_3269del (p.Arg1090AlafsTer8)
c.1241_1242del
c.*564_*565del (n.*564_*565del)
n.4207_4208del
n.2808_2809del
c.3319_3320del (p.Arg1107AlafsTer8)
c.3367_3368del (p.Arg1123AlafsTer8)
c.3427_3428del (p.Arg1143AlafsTer8)
c.2977_2978del (p.Arg993AlafsTer8)
c.1279_1280del (p.Arg427AlafsTer8)
c.1096_1097del (p.Arg366AlafsTer8)
c.3328_3329del (p.Arg1110AlafsTer8)
c.3280_3281del (p.Arg1094AlafsTer8)
c.3049_3050del (p.Arg1017AlafsTer8)
c.2950_2951del (p.Arg984AlafsTer8)
c.2131_2132del (p.Arg711AlafsTer8)
n.3682_3683del
 ClinVar
13g.51941174T>ACA388026541ATP7Bc.*1113A>T (n.*1113A>T)
c.*2207A>T (n.*2207A>T)
c.2842A>T (p.Arg948Trp)
c.3463A>T (p.Arg1155Trp)
c.3130A>T (p.Arg1044Trp)
c.3211A>T (p.Arg1071Trp)
c.3229A>T (p.Arg1077Trp)
n.3602A>T
n.3826A>T
c.2398A>T (p.Arg800Trp)
c.2173A>T (p.Arg725Trp)
c.3268A>T (p.Arg1090Trp)
c.1241A>T
c.*564A>T (n.*564A>T)
n.4207A>T
n.2808A>T
c.3319A>T (p.Arg1107Trp)
c.3367A>T (p.Arg1123Trp)
c.3427A>T (p.Arg1143Trp)
c.2977A>T (p.Arg993Trp)
c.1279A>T (p.Arg427Trp)
c.1096A>T (p.Arg366Trp)
c.3328A>T (p.Arg1110Trp)
c.3280A>T (p.Arg1094Trp)
c.3049A>T (p.Arg1017Trp)
c.2950A>T (p.Arg984Trp)
c.2131A>T (p.Arg711Trp)
n.3682A>T
13g.51941174T>CCA250077285ATP7Bc.*1113A>G (n.*1113A>G)
c.*2207A>G (n.*2207A>G)
c.2842A>G (p.Arg948Gly)
c.3463A>G (p.Arg1155Gly)
c.3130A>G (p.Arg1044Gly)
c.3211A>G (p.Arg1071Gly)
c.3229A>G (p.Arg1077Gly)
n.3602A>G
n.3826A>G
c.2398A>G (p.Arg800Gly)
c.2173A>G (p.Arg725Gly)
c.3268A>G (p.Arg1090Gly)
c.1241A>G
c.*564A>G (n.*564A>G)
n.4207A>G
n.2808A>G
c.3319A>G (p.Arg1107Gly)
c.3367A>G (p.Arg1123Gly)
c.3427A>G (p.Arg1143Gly)
c.2977A>G (p.Arg993Gly)
c.1279A>G (p.Arg427Gly)
c.1096A>G (p.Arg366Gly)
c.3328A>G (p.Arg1110Gly)
c.3280A>G (p.Arg1094Gly)
c.3049A>G (p.Arg1017Gly)
c.2950A>G (p.Arg984Gly)
c.2131A>G (p.Arg711Gly)
n.3682A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51941174T>GCA483894070ATP7Bc.*1113A>C (n.*1113A>C)
c.*2207A>C (n.*2207A>C)
c.2842A>C (p.Arg948=)
c.3463A>C (p.Arg1155=)
c.3130A>C (p.Arg1044=)
c.3211A>C (p.Arg1071=)
c.3229A>C (p.Arg1077=)
n.3602A>C
n.3826A>C
c.2398A>C (p.Arg800=)
c.2173A>C (p.Arg725=)
c.3268A>C (p.Arg1090=)
c.1241A>C
c.*564A>C (n.*564A>C)
n.4207A>C
n.2808A>C
c.3319A>C (p.Arg1107=)
c.3367A>C (p.Arg1123=)
c.3427A>C (p.Arg1143=)
c.2977A>C (p.Arg993=)
c.1279A>C (p.Arg427=)
c.1096A>C (p.Arg366=)
c.3328A>C (p.Arg1110=)
c.3280A>C (p.Arg1094=)
c.3049A>C (p.Arg1017=)
c.2950A>C (p.Arg984=)
c.2131A>C (p.Arg711=)
n.3682A>C
13g.51941174T=CA2091559518ATP7Bc.*1113A= (n.*1113A=)
c.*2207A= (n.*2207A=)
c.2842A= (p.Arg948=)
c.3463A= (p.Arg1155=)
c.3130A= (p.Arg1044=)
c.3211A= (p.Arg1071=)
c.3229A= (p.Arg1077=)
n.3602A=
n.3826A=
c.2398A= (p.Arg800=)
c.2173A= (p.Arg725=)
c.3268A= (p.Arg1090=)
c.1241A=
c.*564A= (n.*564A=)
n.4207A=
n.2808A=
c.3319A= (p.Arg1107=)
c.3367A= (p.Arg1123=)
c.3427A= (p.Arg1143=)
c.2977A= (p.Arg993=)
c.1279A= (p.Arg427=)
c.1096A= (p.Arg366=)
c.3328A= (p.Arg1110=)
c.3280A= (p.Arg1094=)
c.3049A= (p.Arg1017=)
c.2950A= (p.Arg984=)
c.2131A= (p.Arg711=)
n.3682A=
13g.51941175C>ACA483894072ATP7Bc.*1112G>T (n.*1112G>T)
c.*2206G>T (n.*2206G>T)
c.2841G>T (p.Leu947=)
c.3462G>T (p.Leu1154=)
c.3129G>T (p.Leu1043=)
c.3210G>T (p.Leu1070=)
c.3228G>T (p.Leu1076=)
n.3601G>T
n.3825G>T
c.2397G>T (p.Leu799=)
c.2172G>T (p.Leu724=)
c.3267G>T (p.Leu1089=)
c.1240G>T
c.*563G>T (n.*563G>T)
n.4206G>T
n.2807G>T
c.3318G>T (p.Leu1106=)
c.3366G>T (p.Leu1122=)
c.3426G>T (p.Leu1142=)
c.2976G>T (p.Leu992=)
c.1278G>T (p.Leu426=)
c.1095G>T (p.Leu365=)
c.3327G>T (p.Leu1109=)
c.3279G>T (p.Leu1093=)
c.3048G>T (p.Leu1016=)
c.2949G>T (p.Leu983=)
c.2130G>T (p.Leu710=)
n.3681G>T
13g.51941175C=CA2091559520ATP7Bc.*1112G= (n.*1112G=)
c.*2206G= (n.*2206G=)
c.2841G= (p.Leu947=)
c.3462G= (p.Leu1154=)
c.3129G= (p.Leu1043=)
c.3210G= (p.Leu1070=)
c.3228G= (p.Leu1076=)
n.3601G=
n.3825G=
c.2397G= (p.Leu799=)
c.2172G= (p.Leu724=)
c.3267G= (p.Leu1089=)
c.1240G=
c.*563G= (n.*563G=)
n.4206G=
n.2807G=
c.3318G= (p.Leu1106=)
c.3366G= (p.Leu1122=)
c.3426G= (p.Leu1142=)
c.2976G= (p.Leu992=)
c.1278G= (p.Leu426=)
c.1095G= (p.Leu365=)
c.3327G= (p.Leu1109=)
c.3279G= (p.Leu1093=)
c.3048G= (p.Leu1016=)
c.2949G= (p.Leu983=)
c.2130G= (p.Leu710=)
n.3681G=
13g.51941175C>GCA483894074ATP7Bc.*1112G>C (n.*1112G>C)
c.*2206G>C (n.*2206G>C)
c.2841G>C (p.Leu947=)
c.3462G>C (p.Leu1154=)
c.3129G>C (p.Leu1043=)
c.3210G>C (p.Leu1070=)
c.3228G>C (p.Leu1076=)
n.3601G>C
n.3825G>C
c.2397G>C (p.Leu799=)
c.2172G>C (p.Leu724=)
c.3267G>C (p.Leu1089=)
c.1240G>C
c.*563G>C (n.*563G>C)
n.4206G>C
n.2807G>C
c.3318G>C (p.Leu1106=)
c.3366G>C (p.Leu1122=)
c.3426G>C (p.Leu1142=)
c.2976G>C (p.Leu992=)
c.1278G>C (p.Leu426=)
c.1095G>C (p.Leu365=)
c.3327G>C (p.Leu1109=)
c.3279G>C (p.Leu1093=)
c.3048G>C (p.Leu1016=)
c.2949G>C (p.Leu983=)
c.2130G>C (p.Leu710=)
n.3681G>C
13g.51941175C>TCA6988681ATP7Bc.*1112G>A (n.*1112G>A)
c.*2206G>A (n.*2206G>A)
c.2841G>A (p.Leu947=)
c.3462G>A (p.Leu1154=)
c.3129G>A (p.Leu1043=)
c.3210G>A (p.Leu1070=)
c.3228G>A (p.Leu1076=)
n.3601G>A
n.3825G>A
c.2397G>A (p.Leu799=)
c.2172G>A (p.Leu724=)
c.3267G>A (p.Leu1089=)
c.1240G>A
c.*563G>A (n.*563G>A)
n.4206G>A
n.2807G>A
c.3318G>A (p.Leu1106=)
c.3366G>A (p.Leu1122=)
c.3426G>A (p.Leu1142=)
c.2976G>A (p.Leu992=)
c.1278G>A (p.Leu426=)
c.1095G>A (p.Leu365=)
c.3327G>A (p.Leu1109=)
c.3279G>A (p.Leu1093=)
c.3048G>A (p.Leu1016=)
c.2949G>A (p.Leu983=)
c.2130G>A (p.Leu710=)
n.3681G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941176A>CCA388026552ATP7Bc.*1111T>G (n.*1111T>G)
c.*2205T>G (n.*2205T>G)
c.2840T>G (p.Leu947Arg)
c.3461T>G (p.Leu1154Arg)
c.3128T>G (p.Leu1043Arg)
c.3209T>G (p.Leu1070Arg)
c.3227T>G (p.Leu1076Arg)
n.3600T>G
n.3824T>G
c.2396T>G (p.Leu799Arg)
c.2171T>G (p.Leu724Arg)
c.3266T>G (p.Leu1089Arg)
c.1239T>G
c.*562T>G (n.*562T>G)
n.4205T>G
n.2806T>G
c.3317T>G (p.Leu1106Arg)
c.3365T>G (p.Leu1122Arg)
c.3425T>G (p.Leu1142Arg)
c.2975T>G (p.Leu992Arg)
c.1277T>G (p.Leu426Arg)
c.1094T>G (p.Leu365Arg)
c.3326T>G (p.Leu1109Arg)
c.3278T>G (p.Leu1093Arg)
c.3047T>G (p.Leu1016Arg)
c.2948T>G (p.Leu983Arg)
c.2129T>G (p.Leu710Arg)
n.3680T>G
13g.51941176A>GCA388026554ATP7Bc.*1111T>C (n.*1111T>C)
c.*2205T>C (n.*2205T>C)
c.2840T>C (p.Leu947Pro)
c.3461T>C (p.Leu1154Pro)
c.3128T>C (p.Leu1043Pro)
c.3209T>C (p.Leu1070Pro)
c.3227T>C (p.Leu1076Pro)
n.3600T>C
n.3824T>C
c.2396T>C (p.Leu799Pro)
c.2171T>C (p.Leu724Pro)
c.3266T>C (p.Leu1089Pro)
c.1239T>C
c.*562T>C (n.*562T>C)
n.4205T>C
n.2806T>C
c.3317T>C (p.Leu1106Pro)
c.3365T>C (p.Leu1122Pro)
c.3425T>C (p.Leu1142Pro)
c.2975T>C (p.Leu992Pro)
c.1277T>C (p.Leu426Pro)
c.1094T>C (p.Leu365Pro)
c.3326T>C (p.Leu1109Pro)
c.3278T>C (p.Leu1093Pro)
c.3047T>C (p.Leu1016Pro)
c.2948T>C (p.Leu983Pro)
c.2129T>C (p.Leu710Pro)
n.3680T>C
13g.51941176A>TCA388026556ATP7Bc.*1111T>A (n.*1111T>A)
c.*2205T>A (n.*2205T>A)
c.2840T>A (p.Leu947Gln)
c.3461T>A (p.Leu1154Gln)
c.3128T>A (p.Leu1043Gln)
c.3209T>A (p.Leu1070Gln)
c.3227T>A (p.Leu1076Gln)
n.3600T>A
n.3824T>A
c.2396T>A (p.Leu799Gln)
c.2171T>A (p.Leu724Gln)
c.3266T>A (p.Leu1089Gln)
c.1239T>A
c.*562T>A (n.*562T>A)
n.4205T>A
n.2806T>A
c.3317T>A (p.Leu1106Gln)
c.3365T>A (p.Leu1122Gln)
c.3425T>A (p.Leu1142Gln)
c.2975T>A (p.Leu992Gln)
c.1277T>A (p.Leu426Gln)
c.1094T>A (p.Leu365Gln)
c.3326T>A (p.Leu1109Gln)
c.3278T>A (p.Leu1093Gln)
c.3047T>A (p.Leu1016Gln)
c.2948T>A (p.Leu983Gln)
c.2129T>A (p.Leu710Gln)
n.3680T>A
13g.51941177G>ACA483894079ATP7Bc.*1110C>T (n.*1110C>T)
c.*2204C>T (n.*2204C>T)
c.2839C>T (p.Leu947=)
c.3460C>T (p.Leu1154=)
c.3127C>T (p.Leu1043=)
c.3208C>T (p.Leu1070=)
c.3226C>T (p.Leu1076=)
n.3599C>T
n.3823C>T
c.2395C>T (p.Leu799=)
c.2170C>T (p.Leu724=)
c.3265C>T (p.Leu1089=)
c.1238C>T
c.*561C>T (n.*561C>T)
n.4204C>T
n.2805C>T
c.3316C>T (p.Leu1106=)
c.3364C>T (p.Leu1122=)
c.3424C>T (p.Leu1142=)
c.2974C>T (p.Leu992=)
c.1276C>T (p.Leu426=)
c.1093C>T (p.Leu365=)
c.3325C>T (p.Leu1109=)
c.3277C>T (p.Leu1093=)
c.3046C>T (p.Leu1016=)
c.2947C>T (p.Leu983=)
c.2128C>T (p.Leu710=)
n.3679C>T
 dbSNP gnomAD v4
13g.51941177G>CCA388026557ATP7Bc.*1110C>G (n.*1110C>G)
c.*2204C>G (n.*2204C>G)
c.2839C>G (p.Leu947Val)
c.3460C>G (p.Leu1154Val)
c.3127C>G (p.Leu1043Val)
c.3208C>G (p.Leu1070Val)
c.3226C>G (p.Leu1076Val)
n.3599C>G
n.3823C>G
c.2395C>G (p.Leu799Val)
c.2170C>G (p.Leu724Val)
c.3265C>G (p.Leu1089Val)
c.1238C>G
c.*561C>G (n.*561C>G)
n.4204C>G
n.2805C>G
c.3316C>G (p.Leu1106Val)
c.3364C>G (p.Leu1122Val)
c.3424C>G (p.Leu1142Val)
c.2974C>G (p.Leu992Val)
c.1276C>G (p.Leu426Val)
c.1093C>G (p.Leu365Val)
c.3325C>G (p.Leu1109Val)
c.3277C>G (p.Leu1093Val)
c.3046C>G (p.Leu1016Val)
c.2947C>G (p.Leu983Val)
c.2128C>G (p.Leu710Val)
n.3679C>G
13g.51941177G=CA2091559524ATP7Bc.*1110C= (n.*1110C=)
c.*2204C= (n.*2204C=)
c.2839C= (p.Leu947=)
c.3460C= (p.Leu1154=)
c.3127C= (p.Leu1043=)
c.3208C= (p.Leu1070=)
c.3226C= (p.Leu1076=)
n.3599C=
n.3823C=
c.2395C= (p.Leu799=)
c.2170C= (p.Leu724=)
c.3265C= (p.Leu1089=)
c.1238C=
c.*561C= (n.*561C=)
n.4204C=
n.2805C=
c.3316C= (p.Leu1106=)
c.3364C= (p.Leu1122=)
c.3424C= (p.Leu1142=)
c.2974C= (p.Leu992=)
c.1276C= (p.Leu426=)
c.1093C= (p.Leu365=)
c.3325C= (p.Leu1109=)
c.3277C= (p.Leu1093=)
c.3046C= (p.Leu1016=)
c.2947C= (p.Leu983=)
c.2128C= (p.Leu710=)
n.3679C=
13g.51941177G>TCA388026558ATP7Bc.*1110C>A (n.*1110C>A)
c.*2204C>A (n.*2204C>A)
c.2839C>A (p.Leu947Met)
c.3460C>A (p.Leu1154Met)
c.3127C>A (p.Leu1043Met)
c.3208C>A (p.Leu1070Met)
c.3226C>A (p.Leu1076Met)
n.3599C>A
n.3823C>A
c.2395C>A (p.Leu799Met)
c.2170C>A (p.Leu724Met)
c.3265C>A (p.Leu1089Met)
c.1238C>A
c.*561C>A (n.*561C>A)
n.4204C>A
n.2805C>A
c.3316C>A (p.Leu1106Met)
c.3364C>A (p.Leu1122Met)
c.3424C>A (p.Leu1142Met)
c.2974C>A (p.Leu992Met)
c.1276C>A (p.Leu426Met)
c.1093C>A (p.Leu365Met)
c.3325C>A (p.Leu1109Met)
c.3277C>A (p.Leu1093Met)
c.3046C>A (p.Leu1016Met)
c.2947C>A (p.Leu983Met)
c.2128C>A (p.Leu710Met)
n.3679C>A
13g.51941178C>ACA388026562ATP7Bc.*1109G>T (n.*1109G>T)
c.*2203G>T (n.*2203G>T)
c.2838G>T (p.Trp946Cys)
c.3459G>T (p.Trp1153Cys)
c.3126G>T (p.Trp1042Cys)
c.3207G>T (p.Trp1069Cys)
c.3225G>T (p.Trp1075Cys)
n.3598G>T
n.3822G>T
c.2394G>T (p.Trp798Cys)
c.2169G>T (p.Trp723Cys)
c.3264G>T (p.Trp1088Cys)
c.1237G>T
c.*560G>T (n.*560G>T)
n.4203G>T
n.2804G>T
c.3315G>T (p.Trp1105Cys)
c.3363G>T (p.Trp1121Cys)
c.3423G>T (p.Trp1141Cys)
c.2973G>T (p.Trp991Cys)
c.1275G>T (p.Trp425Cys)
c.1092G>T (p.Trp364Cys)
c.3324G>T (p.Trp1108Cys)
c.3276G>T (p.Trp1092Cys)
c.3045G>T (p.Trp1015Cys)
c.2946G>T (p.Trp982Cys)
c.2127G>T (p.Trp709Cys)
n.3678G>T
 dbSNP gnomAD v4
13g.51941178C=CA2091559527ATP7Bc.*1109G= (n.*1109G=)
c.*2203G= (n.*2203G=)
c.2838G= (p.Trp946=)
c.3459G= (p.Trp1153=)
c.3126G= (p.Trp1042=)
c.3207G= (p.Trp1069=)
c.3225G= (p.Trp1075=)
n.3598G=
n.3822G=
c.2394G= (p.Trp798=)
c.2169G= (p.Trp723=)
c.3264G= (p.Trp1088=)
c.1237G=
c.*560G= (n.*560G=)
n.4203G=
n.2804G=
c.3315G= (p.Trp1105=)
c.3363G= (p.Trp1121=)
c.3423G= (p.Trp1141=)
c.2973G= (p.Trp991=)
c.1275G= (p.Trp425=)
c.1092G= (p.Trp364=)
c.3324G= (p.Trp1108=)
c.3276G= (p.Trp1092=)
c.3045G= (p.Trp1015=)
c.2946G= (p.Trp982=)
c.2127G= (p.Trp709=)
n.3678G=
13g.51941178C>GCA388026567ATP7Bc.*1109G>C (n.*1109G>C)
c.*2203G>C (n.*2203G>C)
c.2838G>C (p.Trp946Cys)
c.3459G>C (p.Trp1153Cys)
c.3126G>C (p.Trp1042Cys)
c.3207G>C (p.Trp1069Cys)
c.3225G>C (p.Trp1075Cys)
n.3598G>C
n.3822G>C
c.2394G>C (p.Trp798Cys)
c.2169G>C (p.Trp723Cys)
c.3264G>C (p.Trp1088Cys)
c.1237G>C
c.*560G>C (n.*560G>C)
n.4203G>C
n.2804G>C
c.3315G>C (p.Trp1105Cys)
c.3363G>C (p.Trp1121Cys)
c.3423G>C (p.Trp1141Cys)
c.2973G>C (p.Trp991Cys)
c.1275G>C (p.Trp425Cys)
c.1092G>C (p.Trp364Cys)
c.3324G>C (p.Trp1108Cys)
c.3276G>C (p.Trp1092Cys)
c.3045G>C (p.Trp1015Cys)
c.2946G>C (p.Trp982Cys)
c.2127G>C (p.Trp709Cys)
n.3678G>C
13g.51941178C>TCA388026570ATP7Bc.*1109G>A (n.*1109G>A)
c.*2203G>A (n.*2203G>A)
c.2838G>A (p.Trp946Ter)
c.3459G>A (p.Trp1153Ter)
c.3126G>A (p.Trp1042Ter)
c.3207G>A (p.Trp1069Ter)
c.3225G>A (p.Trp1075Ter)
n.3598G>A
n.3822G>A
c.2394G>A (p.Trp798Ter)
c.2169G>A (p.Trp723Ter)
c.3264G>A (p.Trp1088Ter)
c.1237G>A
c.*560G>A (n.*560G>A)
n.4203G>A
n.2804G>A
c.3315G>A (p.Trp1105Ter)
c.3363G>A (p.Trp1121Ter)
c.3423G>A (p.Trp1141Ter)
c.2973G>A (p.Trp991Ter)
c.1275G>A (p.Trp425Ter)
c.1092G>A (p.Trp364Ter)
c.3324G>A (p.Trp1108Ter)
c.3276G>A (p.Trp1092Ter)
c.3045G>A (p.Trp1015Ter)
c.2946G>A (p.Trp982Ter)
c.2127G>A (p.Trp709Ter)
n.3678G>A
13g.51941179C>ACA388026584ATP7Bc.*1108G>T (n.*1108G>T)
c.*2202G>T (n.*2202G>T)
c.2837G>T (p.Trp946Leu)
c.3458G>T (p.Trp1153Leu)
c.3125G>T (p.Trp1042Leu)
c.3206G>T (p.Trp1069Leu)
c.3224G>T (p.Trp1075Leu)
n.3597G>T
n.3821G>T
c.2393G>T (p.Trp798Leu)
c.2168G>T (p.Trp723Leu)
c.3263G>T (p.Trp1088Leu)
c.1236G>T
c.*559G>T (n.*559G>T)
n.4202G>T
n.2803G>T
c.3314G>T (p.Trp1105Leu)
c.3362G>T (p.Trp1121Leu)
c.3422G>T (p.Trp1141Leu)
c.2972G>T (p.Trp991Leu)
c.1274G>T (p.Trp425Leu)
c.1091G>T (p.Trp364Leu)
c.3323G>T (p.Trp1108Leu)
c.3275G>T (p.Trp1092Leu)
c.3044G>T (p.Trp1015Leu)
c.2945G>T (p.Trp982Leu)
c.2126G>T (p.Trp709Leu)
n.3677G>T
 gnomAD v4
13g.51941179C=CA2091559530ATP7Bc.*1108G= (n.*1108G=)
c.*2202G= (n.*2202G=)
c.2837G= (p.Trp946=)
c.3458G= (p.Trp1153=)
c.3125G= (p.Trp1042=)
c.3206G= (p.Trp1069=)
c.3224G= (p.Trp1075=)
n.3597G=
n.3821G=
c.2393G= (p.Trp798=)
c.2168G= (p.Trp723=)
c.3263G= (p.Trp1088=)
c.1236G=
c.*559G= (n.*559G=)
n.4202G=
n.2803G=
c.3314G= (p.Trp1105=)
c.3362G= (p.Trp1121=)
c.3422G= (p.Trp1141=)
c.2972G= (p.Trp991=)
c.1274G= (p.Trp425=)
c.1091G= (p.Trp364=)
c.3323G= (p.Trp1108=)
c.3275G= (p.Trp1092=)
c.3044G= (p.Trp1015=)
c.2945G= (p.Trp982=)
c.2126G= (p.Trp709=)
n.3677G=
13g.51941179C>GCA388026582ATP7Bc.*1108G>C (n.*1108G>C)
c.*2202G>C (n.*2202G>C)
c.2837G>C (p.Trp946Ser)
c.3458G>C (p.Trp1153Ser)
c.3125G>C (p.Trp1042Ser)
c.3206G>C (p.Trp1069Ser)
c.3224G>C (p.Trp1075Ser)
n.3597G>C
n.3821G>C
c.2393G>C (p.Trp798Ser)
c.2168G>C (p.Trp723Ser)
c.3263G>C (p.Trp1088Ser)
c.1236G>C
c.*559G>C (n.*559G>C)
n.4202G>C
n.2803G>C
c.3314G>C (p.Trp1105Ser)
c.3362G>C (p.Trp1121Ser)
c.3422G>C (p.Trp1141Ser)
c.2972G>C (p.Trp991Ser)
c.1274G>C (p.Trp425Ser)
c.1091G>C (p.Trp364Ser)
c.3323G>C (p.Trp1108Ser)
c.3275G>C (p.Trp1092Ser)
c.3044G>C (p.Trp1015Ser)
c.2945G>C (p.Trp982Ser)
c.2126G>C (p.Trp709Ser)
n.3677G>C
 dbSNP gnomAD v2 gnomAD v4
13g.51941179C>TCA388026573ATP7Bc.*1108G>A (n.*1108G>A)
c.*2202G>A (n.*2202G>A)
c.2837G>A (p.Trp946Ter)
c.3458G>A (p.Trp1153Ter)
c.3125G>A (p.Trp1042Ter)
c.3206G>A (p.Trp1069Ter)
c.3224G>A (p.Trp1075Ter)
n.3597G>A
n.3821G>A
c.2393G>A (p.Trp798Ter)
c.2168G>A (p.Trp723Ter)
c.3263G>A (p.Trp1088Ter)
c.1236G>A
c.*559G>A (n.*559G>A)
n.4202G>A
n.2803G>A
c.3314G>A (p.Trp1105Ter)
c.3362G>A (p.Trp1121Ter)
c.3422G>A (p.Trp1141Ter)
c.2972G>A (p.Trp991Ter)
c.1274G>A (p.Trp425Ter)
c.1091G>A (p.Trp364Ter)
c.3323G>A (p.Trp1108Ter)
c.3275G>A (p.Trp1092Ter)
c.3044G>A (p.Trp1015Ter)
c.2945G>A (p.Trp982Ter)
c.2126G>A (p.Trp709Ter)
n.3677G>A
 ClinVar
13g.51941180A>CCA388026586ATP7Bc.*1107T>G (n.*1107T>G)
c.*2201T>G (n.*2201T>G)
c.2836T>G (p.Trp946Gly)
c.3457T>G (p.Trp1153Gly)
c.3124T>G (p.Trp1042Gly)
c.3205T>G (p.Trp1069Gly)
c.3223T>G (p.Trp1075Gly)
n.3596T>G
n.3820T>G
c.2392T>G (p.Trp798Gly)
c.2167T>G (p.Trp723Gly)
c.3262T>G (p.Trp1088Gly)
c.1235T>G
c.*558T>G (n.*558T>G)
n.4201T>G
n.2802T>G
c.3313T>G (p.Trp1105Gly)
c.3361T>G (p.Trp1121Gly)
c.3421T>G (p.Trp1141Gly)
c.2971T>G (p.Trp991Gly)
c.1273T>G (p.Trp425Gly)
c.1090T>G (p.Trp364Gly)
c.3322T>G (p.Trp1108Gly)
c.3274T>G (p.Trp1092Gly)
c.3043T>G (p.Trp1015Gly)
c.2944T>G (p.Trp982Gly)
c.2125T>G (p.Trp709Gly)
n.3676T>G
 ClinVar gnomAD v4
13g.51941180A>GCA388026590ATP7Bc.*1107T>C (n.*1107T>C)
c.*2201T>C (n.*2201T>C)
c.2836T>C (p.Trp946Arg)
c.3457T>C (p.Trp1153Arg)
c.3124T>C (p.Trp1042Arg)
c.3205T>C (p.Trp1069Arg)
c.3223T>C (p.Trp1075Arg)
n.3596T>C
n.3820T>C
c.2392T>C (p.Trp798Arg)
c.2167T>C (p.Trp723Arg)
c.3262T>C (p.Trp1088Arg)
c.1235T>C
c.*558T>C (n.*558T>C)
n.4201T>C
n.2802T>C
c.3313T>C (p.Trp1105Arg)
c.3361T>C (p.Trp1121Arg)
c.3421T>C (p.Trp1141Arg)
c.2971T>C (p.Trp991Arg)
c.1273T>C (p.Trp425Arg)
c.1090T>C (p.Trp364Arg)
c.3322T>C (p.Trp1108Arg)
c.3274T>C (p.Trp1092Arg)
c.3043T>C (p.Trp1015Arg)
c.2944T>C (p.Trp982Arg)
c.2125T>C (p.Trp709Arg)
n.3676T>C
13g.51941180A>TCA388026592ATP7Bc.*1107T>A (n.*1107T>A)
c.*2201T>A (n.*2201T>A)
c.2836T>A (p.Trp946Arg)
c.3457T>A (p.Trp1153Arg)
c.3124T>A (p.Trp1042Arg)
c.3205T>A (p.Trp1069Arg)
c.3223T>A (p.Trp1075Arg)
n.3596T>A
n.3820T>A
c.2392T>A (p.Trp798Arg)
c.2167T>A (p.Trp723Arg)
c.3262T>A (p.Trp1088Arg)
c.1235T>A
c.*558T>A (n.*558T>A)
n.4201T>A
n.2802T>A
c.3313T>A (p.Trp1105Arg)
c.3361T>A (p.Trp1121Arg)
c.3421T>A (p.Trp1141Arg)
c.2971T>A (p.Trp991Arg)
c.1273T>A (p.Trp425Arg)
c.1090T>A (p.Trp364Arg)
c.3322T>A (p.Trp1108Arg)
c.3274T>A (p.Trp1092Arg)
c.3043T>A (p.Trp1015Arg)
c.2944T>A (p.Trp982Arg)
c.2125T>A (p.Trp709Arg)
n.3676T>A
13g.51941181C>ACA388026595ATP7Bc.*1106G>T (n.*1106G>T)
c.*2200G>T (n.*2200G>T)
c.2835G>T (p.Glu945Asp)
c.3456G>T (p.Glu1152Asp)
c.3123G>T (p.Glu1041Asp)
c.3204G>T (p.Glu1068Asp)
c.3222G>T (p.Glu1074Asp)
n.3595G>T
n.3819G>T
c.2391G>T (p.Glu797Asp)
c.2166G>T (p.Glu722Asp)
c.3261G>T (p.Glu1087Asp)
c.1234G>T
c.*557G>T (n.*557G>T)
n.4200G>T
n.2801G>T
c.3312G>T (p.Glu1104Asp)
c.3360G>T (p.Glu1120Asp)
c.3420G>T (p.Glu1140Asp)
c.2970G>T (p.Glu990Asp)
c.1272G>T (p.Glu424Asp)
c.1089G>T (p.Glu363Asp)
c.3321G>T (p.Glu1107Asp)
c.3273G>T (p.Glu1091Asp)
c.3042G>T (p.Glu1014Asp)
c.2943G>T (p.Glu981Asp)
c.2124G>T (p.Glu708Asp)
n.3675G>T
13g.51941181C>GCA388026600ATP7Bc.*1106G>C (n.*1106G>C)
c.*2200G>C (n.*2200G>C)
c.2835G>C (p.Glu945Asp)
c.3456G>C (p.Glu1152Asp)
c.3123G>C (p.Glu1041Asp)
c.3204G>C (p.Glu1068Asp)
c.3222G>C (p.Glu1074Asp)
n.3595G>C
n.3819G>C
c.2391G>C (p.Glu797Asp)
c.2166G>C (p.Glu722Asp)
c.3261G>C (p.Glu1087Asp)
c.1234G>C
c.*557G>C (n.*557G>C)
n.4200G>C
n.2801G>C
c.3312G>C (p.Glu1104Asp)
c.3360G>C (p.Glu1120Asp)
c.3420G>C (p.Glu1140Asp)
c.2970G>C (p.Glu990Asp)
c.1272G>C (p.Glu424Asp)
c.1089G>C (p.Glu363Asp)
c.3321G>C (p.Glu1107Asp)
c.3273G>C (p.Glu1091Asp)
c.3042G>C (p.Glu1014Asp)
c.2943G>C (p.Glu981Asp)
c.2124G>C (p.Glu708Asp)
n.3675G>C
13g.51941181C>TCA483894091ATP7Bc.*1106G>A (n.*1106G>A)
c.*2200G>A (n.*2200G>A)
c.2835G>A (p.Glu945=)
c.3456G>A (p.Glu1152=)
c.3123G>A (p.Glu1041=)
c.3204G>A (p.Glu1068=)
c.3222G>A (p.Glu1074=)
n.3595G>A
n.3819G>A
c.2391G>A (p.Glu797=)
c.2166G>A (p.Glu722=)
c.3261G>A (p.Glu1087=)
c.1234G>A
c.*557G>A (n.*557G>A)
n.4200G>A
n.2801G>A
c.3312G>A (p.Glu1104=)
c.3360G>A (p.Glu1120=)
c.3420G>A (p.Glu1140=)
c.2970G>A (p.Glu990=)
c.1272G>A (p.Glu424=)
c.1089G>A (p.Glu363=)
c.3321G>A (p.Glu1107=)
c.3273G>A (p.Glu1091=)
c.3042G>A (p.Glu1014=)
c.2943G>A (p.Glu981=)
c.2124G>A (p.Glu708=)
n.3675G>A
 ClinVar dbSNP

Number of alleles fetched