Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
 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
 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
 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
 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
13g.51941182T>ACA388026603ATP7Bc.*1105A>T (n.*1105A>T)
c.*2199A>T (n.*2199A>T)
c.2834A>T (p.Glu945Val)
c.3455A>T (p.Glu1152Val)
c.3122A>T (p.Glu1041Val)
c.3203A>T (p.Glu1068Val)
c.3221A>T (p.Glu1074Val)
n.3594A>T
n.3818A>T
c.2390A>T (p.Glu797Val)
c.2165A>T (p.Glu722Val)
c.3260A>T (p.Glu1087Val)
c.1233A>T
c.*556A>T (n.*556A>T)
n.4199A>T
n.2800A>T
c.3311A>T (p.Glu1104Val)
c.3359A>T (p.Glu1120Val)
c.3419A>T (p.Glu1140Val)
c.2969A>T (p.Glu990Val)
c.1271A>T (p.Glu424Val)
c.1088A>T (p.Glu363Val)
c.3320A>T (p.Glu1107Val)
c.3272A>T (p.Glu1091Val)
c.3041A>T (p.Glu1014Val)
c.2942A>T (p.Glu981Val)
c.2123A>T (p.Glu708Val)
n.3674A>T
13g.51941182T>CCA388026604ATP7Bc.*1105A>G (n.*1105A>G)
c.*2199A>G (n.*2199A>G)
c.2834A>G (p.Glu945Gly)
c.3455A>G (p.Glu1152Gly)
c.3122A>G (p.Glu1041Gly)
c.3203A>G (p.Glu1068Gly)
c.3221A>G (p.Glu1074Gly)
n.3594A>G
n.3818A>G
c.2390A>G (p.Glu797Gly)
c.2165A>G (p.Glu722Gly)
c.3260A>G (p.Glu1087Gly)
c.1233A>G
c.*556A>G (n.*556A>G)
n.4199A>G
n.2800A>G
c.3311A>G (p.Glu1104Gly)
c.3359A>G (p.Glu1120Gly)
c.3419A>G (p.Glu1140Gly)
c.2969A>G (p.Glu990Gly)
c.1271A>G (p.Glu424Gly)
c.1088A>G (p.Glu363Gly)
c.3320A>G (p.Glu1107Gly)
c.3272A>G (p.Glu1091Gly)
c.3041A>G (p.Glu1014Gly)
c.2942A>G (p.Glu981Gly)
c.2123A>G (p.Glu708Gly)
n.3674A>G
13g.51941182T>GCA388026605ATP7Bc.*1105A>C (n.*1105A>C)
c.*2199A>C (n.*2199A>C)
c.2834A>C (p.Glu945Ala)
c.3455A>C (p.Glu1152Ala)
c.3122A>C (p.Glu1041Ala)
c.3203A>C (p.Glu1068Ala)
c.3221A>C (p.Glu1074Ala)
n.3594A>C
n.3818A>C
c.2390A>C (p.Glu797Ala)
c.2165A>C (p.Glu722Ala)
c.3260A>C (p.Glu1087Ala)
c.1233A>C
c.*556A>C (n.*556A>C)
n.4199A>C
n.2800A>C
c.3311A>C (p.Glu1104Ala)
c.3359A>C (p.Glu1120Ala)
c.3419A>C (p.Glu1140Ala)
c.2969A>C (p.Glu990Ala)
c.1271A>C (p.Glu424Ala)
c.1088A>C (p.Glu363Ala)
c.3320A>C (p.Glu1107Ala)
c.3272A>C (p.Glu1091Ala)
c.3041A>C (p.Glu1014Ala)
c.2942A>C (p.Glu981Ala)
c.2123A>C (p.Glu708Ala)
n.3674A>C
 dbSNP
13g.51941182T=CA2091559531ATP7Bc.*1105A= (n.*1105A=)
c.*2199A= (n.*2199A=)
c.2834A= (p.Glu945=)
c.3455A= (p.Glu1152=)
c.3122A= (p.Glu1041=)
c.3203A= (p.Glu1068=)
c.3221A= (p.Glu1074=)
n.3594A=
n.3818A=
c.2390A= (p.Glu797=)
c.2165A= (p.Glu722=)
c.3260A= (p.Glu1087=)
c.1233A=
c.*556A= (n.*556A=)
n.4199A=
n.2800A=
c.3311A= (p.Glu1104=)
c.3359A= (p.Glu1120=)
c.3419A= (p.Glu1140=)
c.2969A= (p.Glu990=)
c.1271A= (p.Glu424=)
c.1088A= (p.Glu363=)
c.3320A= (p.Glu1107=)
c.3272A= (p.Glu1091=)
c.3041A= (p.Glu1014=)
c.2942A= (p.Glu981=)
c.2123A= (p.Glu708=)
n.3674A=
13g.51941183C>ACA388026606ATP7Bc.*1104G>T (n.*1104G>T)
c.*2198G>T (n.*2198G>T)
c.2833G>T (p.Glu945Ter)
c.3454G>T (p.Glu1152Ter)
c.3121G>T (p.Glu1041Ter)
c.3202G>T (p.Glu1068Ter)
c.3220G>T (p.Glu1074Ter)
n.3593G>T
n.3817G>T
c.2389G>T (p.Glu797Ter)
c.2164G>T (p.Glu722Ter)
c.3259G>T (p.Glu1087Ter)
c.1232G>T
c.*555G>T (n.*555G>T)
n.4198G>T
n.2799G>T
c.3310G>T (p.Glu1104Ter)
c.3358G>T (p.Glu1120Ter)
c.3418G>T (p.Glu1140Ter)
c.2968G>T (p.Glu990Ter)
c.1270G>T (p.Glu424Ter)
c.1087G>T (p.Glu363Ter)
c.3319G>T (p.Glu1107Ter)
c.3271G>T (p.Glu1091Ter)
c.3040G>T (p.Glu1014Ter)
c.2941G>T (p.Glu981Ter)
c.2122G>T (p.Glu708Ter)
n.3673G>T
13g.51941183C>GCA388026607ATP7Bc.*1104G>C (n.*1104G>C)
c.*2198G>C (n.*2198G>C)
c.2833G>C (p.Glu945Gln)
c.3454G>C (p.Glu1152Gln)
c.3121G>C (p.Glu1041Gln)
c.3202G>C (p.Glu1068Gln)
c.3220G>C (p.Glu1074Gln)
n.3593G>C
n.3817G>C
c.2389G>C (p.Glu797Gln)
c.2164G>C (p.Glu722Gln)
c.3259G>C (p.Glu1087Gln)
c.1232G>C
c.*555G>C (n.*555G>C)
n.4198G>C
n.2799G>C
c.3310G>C (p.Glu1104Gln)
c.3358G>C (p.Glu1120Gln)
c.3418G>C (p.Glu1140Gln)
c.2968G>C (p.Glu990Gln)
c.1270G>C (p.Glu424Gln)
c.1087G>C (p.Glu363Gln)
c.3319G>C (p.Glu1107Gln)
c.3271G>C (p.Glu1091Gln)
c.3040G>C (p.Glu1014Gln)
c.2941G>C (p.Glu981Gln)
c.2122G>C (p.Glu708Gln)
n.3673G>C
13g.51941183C>TCA388026608ATP7Bc.*1104G>A (n.*1104G>A)
c.*2198G>A (n.*2198G>A)
c.2833G>A (p.Glu945Lys)
c.3454G>A (p.Glu1152Lys)
c.3121G>A (p.Glu1041Lys)
c.3202G>A (p.Glu1068Lys)
c.3220G>A (p.Glu1074Lys)
n.3593G>A
n.3817G>A
c.2389G>A (p.Glu797Lys)
c.2164G>A (p.Glu722Lys)
c.3259G>A (p.Glu1087Lys)
c.1232G>A
c.*555G>A (n.*555G>A)
n.4198G>A
n.2799G>A
c.3310G>A (p.Glu1104Lys)
c.3358G>A (p.Glu1120Lys)
c.3418G>A (p.Glu1140Lys)
c.2968G>A (p.Glu990Lys)
c.1270G>A (p.Glu424Lys)
c.1087G>A (p.Glu363Lys)
c.3319G>A (p.Glu1107Lys)
c.3271G>A (p.Glu1091Lys)
c.3040G>A (p.Glu1014Lys)
c.2941G>A (p.Glu981Lys)
c.2122G>A (p.Glu708Lys)
n.3673G>A
 ClinVar
13g.51941184A>CCA483894100ATP7Bc.*1103T>G (n.*1103T>G)
c.*2197T>G (n.*2197T>G)
c.2832T>G (p.Arg944=)
c.3453T>G (p.Arg1151=)
c.3120T>G (p.Arg1040=)
c.3201T>G (p.Arg1067=)
c.3219T>G (p.Arg1073=)
n.3592T>G
n.3816T>G
c.2388T>G (p.Arg796=)
c.2163T>G (p.Arg721=)
c.3258T>G (p.Arg1086=)
c.1231T>G
c.*554T>G (n.*554T>G)
n.4197T>G
n.2798T>G
c.3309T>G (p.Arg1103=)
c.3357T>G (p.Arg1119=)
c.3417T>G (p.Arg1139=)
c.2967T>G (p.Arg989=)
c.1269T>G (p.Arg423=)
c.1086T>G (p.Arg362=)
c.3318T>G (p.Arg1106=)
c.3270T>G (p.Arg1090=)
c.3039T>G (p.Arg1013=)
c.2940T>G (p.Arg980=)
c.2121T>G (p.Arg707=)
n.3672T>G
 ClinVar gnomAD v4
13g.51941184A>GCA483894102ATP7Bc.*1103T>C (n.*1103T>C)
c.*2197T>C (n.*2197T>C)
c.2832T>C (p.Arg944=)
c.3453T>C (p.Arg1151=)
c.3120T>C (p.Arg1040=)
c.3201T>C (p.Arg1067=)
c.3219T>C (p.Arg1073=)
n.3592T>C
n.3816T>C
c.2388T>C (p.Arg796=)
c.2163T>C (p.Arg721=)
c.3258T>C (p.Arg1086=)
c.1231T>C
c.*554T>C (n.*554T>C)
n.4197T>C
n.2798T>C
c.3309T>C (p.Arg1103=)
c.3357T>C (p.Arg1119=)
c.3417T>C (p.Arg1139=)
c.2967T>C (p.Arg989=)
c.1269T>C (p.Arg423=)
c.1086T>C (p.Arg362=)
c.3318T>C (p.Arg1106=)
c.3270T>C (p.Arg1090=)
c.3039T>C (p.Arg1013=)
c.2940T>C (p.Arg980=)
c.2121T>C (p.Arg707=)
n.3672T>C
13g.51941184A>TCA483894103ATP7Bc.*1103T>A (n.*1103T>A)
c.*2197T>A (n.*2197T>A)
c.2832T>A (p.Arg944=)
c.3453T>A (p.Arg1151=)
c.3120T>A (p.Arg1040=)
c.3201T>A (p.Arg1067=)
c.3219T>A (p.Arg1073=)
n.3592T>A
n.3816T>A
c.2388T>A (p.Arg796=)
c.2163T>A (p.Arg721=)
c.3258T>A (p.Arg1086=)
c.1231T>A
c.*554T>A (n.*554T>A)
n.4197T>A
n.2798T>A
c.3309T>A (p.Arg1103=)
c.3357T>A (p.Arg1119=)
c.3417T>A (p.Arg1139=)
c.2967T>A (p.Arg989=)
c.1269T>A (p.Arg423=)
c.1086T>A (p.Arg362=)
c.3318T>A (p.Arg1106=)
c.3270T>A (p.Arg1090=)
c.3039T>A (p.Arg1013=)
c.2940T>A (p.Arg980=)
c.2121T>A (p.Arg707=)
n.3672T>A
13g.51941185C>ACA388026610ATP7Bc.*1102G>T (n.*1102G>T)
c.*2196G>T (n.*2196G>T)
c.2831G>T (p.Arg944Leu)
c.3452G>T (p.Arg1151Leu)
c.3119G>T (p.Arg1040Leu)
c.3200G>T (p.Arg1067Leu)
c.3218G>T (p.Arg1073Leu)
n.3591G>T
n.3815G>T
c.2387G>T (p.Arg796Leu)
c.2162G>T (p.Arg721Leu)
c.3257G>T (p.Arg1086Leu)
c.1230G>T
c.*553G>T (n.*553G>T)
n.4196G>T
n.2797G>T
c.3308G>T (p.Arg1103Leu)
c.3356G>T (p.Arg1119Leu)
c.3416G>T (p.Arg1139Leu)
c.2966G>T (p.Arg989Leu)
c.1268G>T (p.Arg423Leu)
c.1085G>T (p.Arg362Leu)
c.3317G>T (p.Arg1106Leu)
c.3269G>T (p.Arg1090Leu)
c.3038G>T (p.Arg1013Leu)
c.2939G>T (p.Arg980Leu)
c.2120G>T (p.Arg707Leu)
n.3671G>T
13g.51941185C=CA2091559534ATP7Bc.*1102G= (n.*1102G=)
c.*2196G= (n.*2196G=)
c.2831G= (p.Arg944=)
c.3452G= (p.Arg1151=)
c.3119G= (p.Arg1040=)
c.3200G= (p.Arg1067=)
c.3218G= (p.Arg1073=)
n.3591G=
n.3815G=
c.2387G= (p.Arg796=)
c.2162G= (p.Arg721=)
c.3257G= (p.Arg1086=)
c.1230G=
c.*553G= (n.*553G=)
n.4196G=
n.2797G=
c.3308G= (p.Arg1103=)
c.3356G= (p.Arg1119=)
c.3416G= (p.Arg1139=)
c.2966G= (p.Arg989=)
c.1268G= (p.Arg423=)
c.1085G= (p.Arg362=)
c.3317G= (p.Arg1106=)
c.3269G= (p.Arg1090=)
c.3038G= (p.Arg1013=)
c.2939G= (p.Arg980=)
c.2120G= (p.Arg707=)
n.3671G=
13g.51941185C>GCA388026612ATP7Bc.*1102G>C (n.*1102G>C)
c.*2196G>C (n.*2196G>C)
c.2831G>C (p.Arg944Pro)
c.3452G>C (p.Arg1151Pro)
c.3119G>C (p.Arg1040Pro)
c.3200G>C (p.Arg1067Pro)
c.3218G>C (p.Arg1073Pro)
n.3591G>C
n.3815G>C
c.2387G>C (p.Arg796Pro)
c.2162G>C (p.Arg721Pro)
c.3257G>C (p.Arg1086Pro)
c.1230G>C
c.*553G>C (n.*553G>C)
n.4196G>C
n.2797G>C
c.3308G>C (p.Arg1103Pro)
c.3356G>C (p.Arg1119Pro)
c.3416G>C (p.Arg1139Pro)
c.2966G>C (p.Arg989Pro)
c.1268G>C (p.Arg423Pro)
c.1085G>C (p.Arg362Pro)
c.3317G>C (p.Arg1106Pro)
c.3269G>C (p.Arg1090Pro)
c.3038G>C (p.Arg1013Pro)
c.2939G>C (p.Arg980Pro)
c.2120G>C (p.Arg707Pro)
n.3671G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51941185C>TCA6988682ATP7Bc.*1102G>A (n.*1102G>A)
c.*2196G>A (n.*2196G>A)
c.2831G>A (p.Arg944His)
c.3452G>A (p.Arg1151His)
c.3119G>A (p.Arg1040His)
c.3200G>A (p.Arg1067His)
c.3218G>A (p.Arg1073His)
n.3591G>A
n.3815G>A
c.2387G>A (p.Arg796His)
c.2162G>A (p.Arg721His)
c.3257G>A (p.Arg1086His)
c.1230G>A
c.*553G>A (n.*553G>A)
n.4196G>A
n.2797G>A
c.3308G>A (p.Arg1103His)
c.3356G>A (p.Arg1119His)
c.3416G>A (p.Arg1139His)
c.2966G>A (p.Arg989His)
c.1268G>A (p.Arg423His)
c.1085G>A (p.Arg362His)
c.3317G>A (p.Arg1106His)
c.3269G>A (p.Arg1090His)
c.3038G>A (p.Arg1013His)
c.2939G>A (p.Arg980His)
c.2120G>A (p.Arg707His)
n.3671G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.51941186G>ACA274020ATP7Bc.*1101C>T (n.*1101C>T)
c.*2195C>T (n.*2195C>T)
c.2830C>T (p.Arg944Cys)
c.3451C>T (p.Arg1151Cys)
c.3118C>T (p.Arg1040Cys)
c.3199C>T (p.Arg1067Cys)
c.3217C>T (p.Arg1073Cys)
n.3590C>T
n.3814C>T
c.2386C>T (p.Arg796Cys)
c.2161C>T (p.Arg721Cys)
c.3256C>T (p.Arg1086Cys)
c.1229C>T
c.*552C>T (n.*552C>T)
n.4195C>T
n.2796C>T
c.3307C>T (p.Arg1103Cys)
c.3355C>T (p.Arg1119Cys)
c.3415C>T (p.Arg1139Cys)
c.2965C>T (p.Arg989Cys)
c.1267C>T (p.Arg423Cys)
c.1084C>T (p.Arg362Cys)
c.3316C>T (p.Arg1106Cys)
c.3268C>T (p.Arg1090Cys)
c.3037C>T (p.Arg1013Cys)
c.2938C>T (p.Arg980Cys)
c.2119C>T (p.Arg707Cys)
n.3670C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51941186G>CCA388026626ATP7Bc.*1101C>G (n.*1101C>G)
c.*2195C>G (n.*2195C>G)
c.2830C>G (p.Arg944Gly)
c.3451C>G (p.Arg1151Gly)
c.3118C>G (p.Arg1040Gly)
c.3199C>G (p.Arg1067Gly)
c.3217C>G (p.Arg1073Gly)
n.3590C>G
n.3814C>G
c.2386C>G (p.Arg796Gly)
c.2161C>G (p.Arg721Gly)
c.3256C>G (p.Arg1086Gly)
c.1229C>G
c.*552C>G (n.*552C>G)
n.4195C>G
n.2796C>G
c.3307C>G (p.Arg1103Gly)
c.3355C>G (p.Arg1119Gly)
c.3415C>G (p.Arg1139Gly)
c.2965C>G (p.Arg989Gly)
c.1267C>G (p.Arg423Gly)
c.1084C>G (p.Arg362Gly)
c.3316C>G (p.Arg1106Gly)
c.3268C>G (p.Arg1090Gly)
c.3037C>G (p.Arg1013Gly)
c.2938C>G (p.Arg980Gly)
c.2119C>G (p.Arg707Gly)
n.3670C>G
 ClinVar dbSNP
13g.51941186G=CA2091559539ATP7Bc.*1101C= (n.*1101C=)
c.*2195C= (n.*2195C=)
c.2830C= (p.Arg944=)
c.3451C= (p.Arg1151=)
c.3118C= (p.Arg1040=)
c.3199C= (p.Arg1067=)
c.3217C= (p.Arg1073=)
n.3590C=
n.3814C=
c.2386C= (p.Arg796=)
c.2161C= (p.Arg721=)
c.3256C= (p.Arg1086=)
c.1229C=
c.*552C= (n.*552C=)
n.4195C=
n.2796C=
c.3307C= (p.Arg1103=)
c.3355C= (p.Arg1119=)
c.3415C= (p.Arg1139=)
c.2965C= (p.Arg989=)
c.1267C= (p.Arg423=)
c.1084C= (p.Arg362=)
c.3316C= (p.Arg1106=)
c.3268C= (p.Arg1090=)
c.3037C= (p.Arg1013=)
c.2938C= (p.Arg980=)
c.2119C= (p.Arg707=)
n.3670C=
13g.51941186G>TCA388026620ATP7Bc.*1101C>A (n.*1101C>A)
c.*2195C>A (n.*2195C>A)
c.2830C>A (p.Arg944Ser)
c.3451C>A (p.Arg1151Ser)
c.3118C>A (p.Arg1040Ser)
c.3199C>A (p.Arg1067Ser)
c.3217C>A (p.Arg1073Ser)
n.3590C>A
n.3814C>A
c.2386C>A (p.Arg796Ser)
c.2161C>A (p.Arg721Ser)
c.3256C>A (p.Arg1086Ser)
c.1229C>A
c.*552C>A (n.*552C>A)
n.4195C>A
n.2796C>A
c.3307C>A (p.Arg1103Ser)
c.3355C>A (p.Arg1119Ser)
c.3415C>A (p.Arg1139Ser)
c.2965C>A (p.Arg989Ser)
c.1267C>A (p.Arg423Ser)
c.1084C>A (p.Arg362Ser)
c.3316C>A (p.Arg1106Ser)
c.3268C>A (p.Arg1090Ser)
c.3037C>A (p.Arg1013Ser)
c.2938C>A (p.Arg980Ser)
c.2119C>A (p.Arg707Ser)
n.3670C>A
13g.51941187G>ACA483894111ATP7Bc.*1100C>T (n.*1100C>T)
c.*2194C>T (n.*2194C>T)
c.2829C>T (p.Asn943=)
c.3450C>T (p.Asn1150=)
c.3117C>T (p.Asn1039=)
c.3198C>T (p.Asn1066=)
c.3216C>T (p.Asn1072=)
n.3589C>T
n.3813C>T
c.2385C>T (p.Asn795=)
c.2160C>T (p.Asn720=)
c.3255C>T (p.Asn1085=)
c.1228C>T
c.*551C>T (n.*551C>T)
n.4194C>T
n.2795C>T
c.3306C>T (p.Asn1102=)
c.3354C>T (p.Asn1118=)
c.3414C>T (p.Asn1138=)
c.2964C>T (p.Asn988=)
c.1266C>T (p.Asn422=)
c.1083C>T (p.Asn361=)
c.3315C>T (p.Asn1105=)
c.3267C>T (p.Asn1089=)
c.3036C>T (p.Asn1012=)
c.2937C>T (p.Asn979=)
c.2118C>T (p.Asn706=)
n.3669C>T
 COSMIC
13g.51941187G>CCA388026629ATP7Bc.*1100C>G (n.*1100C>G)
c.*2194C>G (n.*2194C>G)
c.2829C>G (p.Asn943Lys)
c.3450C>G (p.Asn1150Lys)
c.3117C>G (p.Asn1039Lys)
c.3198C>G (p.Asn1066Lys)
c.3216C>G (p.Asn1072Lys)
n.3589C>G
n.3813C>G
c.2385C>G (p.Asn795Lys)
c.2160C>G (p.Asn720Lys)
c.3255C>G (p.Asn1085Lys)
c.1228C>G
c.*551C>G (n.*551C>G)
n.4194C>G
n.2795C>G
c.3306C>G (p.Asn1102Lys)
c.3354C>G (p.Asn1118Lys)
c.3414C>G (p.Asn1138Lys)
c.2964C>G (p.Asn988Lys)
c.1266C>G (p.Asn422Lys)
c.1083C>G (p.Asn361Lys)
c.3315C>G (p.Asn1105Lys)
c.3267C>G (p.Asn1089Lys)
c.3036C>G (p.Asn1012Lys)
c.2937C>G (p.Asn979Lys)
c.2118C>G (p.Asn706Lys)
n.3669C>G
13g.51941187G>TCA388026632ATP7Bc.*1100C>A (n.*1100C>A)
c.*2194C>A (n.*2194C>A)
c.2829C>A (p.Asn943Lys)
c.3450C>A (p.Asn1150Lys)
c.3117C>A (p.Asn1039Lys)
c.3198C>A (p.Asn1066Lys)
c.3216C>A (p.Asn1072Lys)
n.3589C>A
n.3813C>A
c.2385C>A (p.Asn795Lys)
c.2160C>A (p.Asn720Lys)
c.3255C>A (p.Asn1085Lys)
c.1228C>A
c.*551C>A (n.*551C>A)
n.4194C>A
n.2795C>A
c.3306C>A (p.Asn1102Lys)
c.3354C>A (p.Asn1118Lys)
c.3414C>A (p.Asn1138Lys)
c.2964C>A (p.Asn988Lys)
c.1266C>A (p.Asn422Lys)
c.1083C>A (p.Asn361Lys)
c.3315C>A (p.Asn1105Lys)
c.3267C>A (p.Asn1089Lys)
c.3036C>A (p.Asn1012Lys)
c.2937C>A (p.Asn979Lys)
c.2118C>A (p.Asn706Lys)
n.3669C>A
13g.51941187_51941188delinsGTCA2091559545ATP7Bc.*1099_*1100delinsAC (n.*1099_*1100delinsAC)
c.*2193_*2194delinsAC (n.*2193_*2194delinsAC)
c.2828_2829delinsAC (p.Asn943=)
c.3449_3450delinsAC (p.Asn1150=)
c.3116_3117delinsAC (p.Asn1039=)
c.3197_3198delinsAC (p.Asn1066=)
c.3215_3216delinsAC (p.Asn1072=)
n.3588_3589delinsAC
n.3812_3813delinsAC
c.2384_2385delinsAC (p.Asn795=)
c.2159_2160delinsAC (p.Asn720=)
c.3254_3255delinsAC (p.Asn1085=)
c.1227_1228delinsAC
c.*550_*551delinsAC (n.*550_*551delinsAC)
n.4193_4194delinsAC
n.2794_2795delinsAC
c.3305_3306delinsAC (p.Asn1102=)
c.3353_3354delinsAC (p.Asn1118=)
c.3413_3414delinsAC (p.Asn1138=)
c.2963_2964delinsAC (p.Asn988=)
c.1265_1266delinsAC (p.Asn422=)
c.1082_1083delinsAC (p.Asn361=)
c.3314_3315delinsAC (p.Asn1105=)
c.3266_3267delinsAC (p.Asn1089=)
c.3035_3036delinsAC (p.Asn1012=)
c.2936_2937delinsAC (p.Asn979=)
c.2117_2118delinsAC (p.Asn706=)
n.3668_3669delinsAC
13g.51941188T>ACA388026644ATP7Bc.*1099A>T (n.*1099A>T)
c.*2193A>T (n.*2193A>T)
c.2828A>T (p.Asn943Ile)
c.3449A>T (p.Asn1150Ile)
c.3116A>T (p.Asn1039Ile)
c.3197A>T (p.Asn1066Ile)
c.3215A>T (p.Asn1072Ile)
n.3588A>T
n.3812A>T
c.2384A>T (p.Asn795Ile)
c.2159A>T (p.Asn720Ile)
c.3254A>T (p.Asn1085Ile)
c.1227A>T
c.*550A>T (n.*550A>T)
n.4193A>T
n.2794A>T
c.3305A>T (p.Asn1102Ile)
c.3353A>T (p.Asn1118Ile)
c.3413A>T (p.Asn1138Ile)
c.2963A>T (p.Asn988Ile)
c.1265A>T (p.Asn422Ile)
c.1082A>T (p.Asn361Ile)
c.3314A>T (p.Asn1105Ile)
c.3266A>T (p.Asn1089Ile)
c.3035A>T (p.Asn1012Ile)
c.2936A>T (p.Asn979Ile)
c.2117A>T (p.Asn706Ile)
n.3668A>T
 gnomAD v4
13g.51941188T>CCA388026647ATP7Bc.*1099A>G (n.*1099A>G)
c.*2193A>G (n.*2193A>G)
c.2828A>G (p.Asn943Ser)
c.3449A>G (p.Asn1150Ser)
c.3116A>G (p.Asn1039Ser)
c.3197A>G (p.Asn1066Ser)
c.3215A>G (p.Asn1072Ser)
n.3588A>G
n.3812A>G
c.2384A>G (p.Asn795Ser)
c.2159A>G (p.Asn720Ser)
c.3254A>G (p.Asn1085Ser)
c.1227A>G
c.*550A>G (n.*550A>G)
n.4193A>G
n.2794A>G
c.3305A>G (p.Asn1102Ser)
c.3353A>G (p.Asn1118Ser)
c.3413A>G (p.Asn1138Ser)
c.2963A>G (p.Asn988Ser)
c.1265A>G (p.Asn422Ser)
c.1082A>G (p.Asn361Ser)
c.3314A>G (p.Asn1105Ser)
c.3266A>G (p.Asn1089Ser)
c.3035A>G (p.Asn1012Ser)
c.2936A>G (p.Asn979Ser)
c.2117A>G (p.Asn706Ser)
n.3668A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51941188T>GCA388026651ATP7Bc.*1099A>C (n.*1099A>C)
c.*2193A>C (n.*2193A>C)
c.2828A>C (p.Asn943Thr)
c.3449A>C (p.Asn1150Thr)
c.3116A>C (p.Asn1039Thr)
c.3197A>C (p.Asn1066Thr)
c.3215A>C (p.Asn1072Thr)
n.3588A>C
n.3812A>C
c.2384A>C (p.Asn795Thr)
c.2159A>C (p.Asn720Thr)
c.3254A>C (p.Asn1085Thr)
c.1227A>C
c.*550A>C (n.*550A>C)
n.4193A>C
n.2794A>C
c.3305A>C (p.Asn1102Thr)
c.3353A>C (p.Asn1118Thr)
c.3413A>C (p.Asn1138Thr)
c.2963A>C (p.Asn988Thr)
c.1265A>C (p.Asn422Thr)
c.1082A>C (p.Asn361Thr)
c.3314A>C (p.Asn1105Thr)
c.3266A>C (p.Asn1089Thr)
c.3035A>C (p.Asn1012Thr)
c.2936A>C (p.Asn979Thr)
c.2117A>C (p.Asn706Thr)
n.3668A>C
13g.51941188T=CA2091559557ATP7Bc.*1099A= (n.*1099A=)
c.*2193A= (n.*2193A=)
c.2828A= (p.Asn943=)
c.3449A= (p.Asn1150=)
c.3116A= (p.Asn1039=)
c.3197A= (p.Asn1066=)
c.3215A= (p.Asn1072=)
n.3588A=
n.3812A=
c.2384A= (p.Asn795=)
c.2159A= (p.Asn720=)
c.3254A= (p.Asn1085=)
c.1227A=
c.*550A= (n.*550A=)
n.4193A=
n.2794A=
c.3305A= (p.Asn1102=)
c.3353A= (p.Asn1118=)
c.3413A= (p.Asn1138=)
c.2963A= (p.Asn988=)
c.1265A= (p.Asn422=)
c.1082A= (p.Asn361=)
c.3314A= (p.Asn1105=)
c.3266A= (p.Asn1089=)
c.3035A= (p.Asn1012=)
c.2936A= (p.Asn979=)
c.2117A= (p.Asn706=)
n.3668A=
13g.51941190delCA658798148ATP7Bc.*1099del (n.*1099del)
c.*2193del (n.*2193del)
c.2828del (p.Asn943ThrfsTer5)
c.3449del (p.Asn1150ThrfsTer5)
c.3116del (p.Asn1039ThrfsTer5)
c.3197del (p.Asn1066ThrfsTer5)
c.3215del (p.Asn1072ThrfsTer5)
n.3588del
n.3812del
c.2384del (p.Asn795ThrfsTer5)
c.2159del (p.Asn720ThrfsTer5)
c.3254del (p.Asn1085ThrfsTer5)
c.1227del
c.*550del (n.*550del)
n.4193del
n.2794del
c.3305del (p.Asn1102ThrfsTer5)
c.3353del (p.Asn1118ThrfsTer5)
c.3413del (p.Asn1138ThrfsTer5)
c.2963del (p.Asn988ThrfsTer5)
c.1265del (p.Asn422ThrfsTer5)
c.1082del (p.Asn361ThrfsTer5)
c.3314del (p.Asn1105ThrfsTer5)
c.3266del (p.Asn1089ThrfsTer5)
c.3035del (p.Asn1012ThrfsTer5)
c.2936del (p.Asn979ThrfsTer5)
c.2117del (p.Asn706ThrfsTer5)
n.3668del
 ClinVar dbSNP gnomAD v4
13g.51941189T>ACA388026654ATP7Bc.*1098A>T (n.*1098A>T)
c.*2192A>T (n.*2192A>T)
c.2827A>T (p.Asn943Tyr)
c.3448A>T (p.Asn1150Tyr)
c.3115A>T (p.Asn1039Tyr)
c.3196A>T (p.Asn1066Tyr)
c.3214A>T (p.Asn1072Tyr)
n.3587A>T
n.3811A>T
c.2383A>T (p.Asn795Tyr)
c.2158A>T (p.Asn720Tyr)
c.3253A>T (p.Asn1085Tyr)
c.1226A>T
c.*549A>T (n.*549A>T)
n.4192A>T
n.2793A>T
c.3304A>T (p.Asn1102Tyr)
c.3352A>T (p.Asn1118Tyr)
c.3412A>T (p.Asn1138Tyr)
c.2962A>T (p.Asn988Tyr)
c.1264A>T (p.Asn422Tyr)
c.1081A>T (p.Asn361Tyr)
c.3313A>T (p.Asn1105Tyr)
c.3265A>T (p.Asn1089Tyr)
c.3034A>T (p.Asn1012Tyr)
c.2935A>T (p.Asn979Tyr)
c.2116A>T (p.Asn706Tyr)
n.3667A>T
13g.51941189T>CCA388026658ATP7Bc.*1098A>G (n.*1098A>G)
c.*2192A>G (n.*2192A>G)
c.2827A>G (p.Asn943Asp)
c.3448A>G (p.Asn1150Asp)
c.3115A>G (p.Asn1039Asp)
c.3196A>G (p.Asn1066Asp)
c.3214A>G (p.Asn1072Asp)
n.3587A>G
n.3811A>G
c.2383A>G (p.Asn795Asp)
c.2158A>G (p.Asn720Asp)
c.3253A>G (p.Asn1085Asp)
c.1226A>G
c.*549A>G (n.*549A>G)
n.4192A>G
n.2793A>G
c.3304A>G (p.Asn1102Asp)
c.3352A>G (p.Asn1118Asp)
c.3412A>G (p.Asn1138Asp)
c.2962A>G (p.Asn988Asp)
c.1264A>G (p.Asn422Asp)
c.1081A>G (p.Asn361Asp)
c.3313A>G (p.Asn1105Asp)
c.3265A>G (p.Asn1089Asp)
c.3034A>G (p.Asn1012Asp)
c.2935A>G (p.Asn979Asp)
c.2116A>G (p.Asn706Asp)
n.3667A>G
13g.51941189T>GCA388026659ATP7Bc.*1098A>C (n.*1098A>C)
c.*2192A>C (n.*2192A>C)
c.2827A>C (p.Asn943His)
c.3448A>C (p.Asn1150His)
c.3115A>C (p.Asn1039His)
c.3196A>C (p.Asn1066His)
c.3214A>C (p.Asn1072His)
n.3587A>C
n.3811A>C
c.2383A>C (p.Asn795His)
c.2158A>C (p.Asn720His)
c.3253A>C (p.Asn1085His)
c.1226A>C
c.*549A>C (n.*549A>C)
n.4192A>C
n.2793A>C
c.3304A>C (p.Asn1102His)
c.3352A>C (p.Asn1118His)
c.3412A>C (p.Asn1138His)
c.2962A>C (p.Asn988His)
c.1264A>C (p.Asn422His)
c.1081A>C (p.Asn361His)
c.3313A>C (p.Asn1105His)
c.3265A>C (p.Asn1089His)
c.3034A>C (p.Asn1012His)
c.2935A>C (p.Asn979His)
c.2116A>C (p.Asn706His)
n.3667A>C
13g.51941190T>ACA483894120ATP7Bc.*1097A>T (n.*1097A>T)
c.*2191A>T (n.*2191A>T)
c.2826A>T (p.Gly942=)
c.3447A>T (p.Gly1149=)
c.3114A>T (p.Gly1038=)
c.3195A>T (p.Gly1065=)
c.3213A>T (p.Gly1071=)
n.3586A>T
n.3810A>T
c.2382A>T (p.Gly794=)
c.2157A>T (p.Gly719=)
c.3252A>T (p.Gly1084=)
c.1225A>T
c.*548A>T (n.*548A>T)
n.4191A>T
n.2792A>T
c.3303A>T (p.Gly1101=)
c.3351A>T (p.Gly1117=)
c.3411A>T (p.Gly1137=)
c.2961A>T (p.Gly987=)
c.1263A>T (p.Gly421=)
c.1080A>T (p.Gly360=)
c.3312A>T (p.Gly1104=)
c.3264A>T (p.Gly1088=)
c.3033A>T (p.Gly1011=)
c.2934A>T (p.Gly978=)
c.2115A>T (p.Gly705=)
n.3666A>T
13g.51941190T>CCA483894122ATP7Bc.*1097A>G (n.*1097A>G)
c.*2191A>G (n.*2191A>G)
c.2826A>G (p.Gly942=)
c.3447A>G (p.Gly1149=)
c.3114A>G (p.Gly1038=)
c.3195A>G (p.Gly1065=)
c.3213A>G (p.Gly1071=)
n.3586A>G
n.3810A>G
c.2382A>G (p.Gly794=)
c.2157A>G (p.Gly719=)
c.3252A>G (p.Gly1084=)
c.1225A>G
c.*548A>G (n.*548A>G)
n.4191A>G
n.2792A>G
c.3303A>G (p.Gly1101=)
c.3351A>G (p.Gly1117=)
c.3411A>G (p.Gly1137=)
c.2961A>G (p.Gly987=)
c.1263A>G (p.Gly421=)
c.1080A>G (p.Gly360=)
c.3312A>G (p.Gly1104=)
c.3264A>G (p.Gly1088=)
c.3033A>G (p.Gly1011=)
c.2934A>G (p.Gly978=)
c.2115A>G (p.Gly705=)
n.3666A>G
 gnomAD v4
13g.51941190T>GCA483894124ATP7Bc.*1097A>C (n.*1097A>C)
c.*2191A>C (n.*2191A>C)
c.2826A>C (p.Gly942=)
c.3447A>C (p.Gly1149=)
c.3114A>C (p.Gly1038=)
c.3195A>C (p.Gly1065=)
c.3213A>C (p.Gly1071=)
n.3586A>C
n.3810A>C
c.2382A>C (p.Gly794=)
c.2157A>C (p.Gly719=)
c.3252A>C (p.Gly1084=)
c.1225A>C
c.*548A>C (n.*548A>C)
n.4191A>C
n.2792A>C
c.3303A>C (p.Gly1101=)
c.3351A>C (p.Gly1117=)
c.3411A>C (p.Gly1137=)
c.2961A>C (p.Gly987=)
c.1263A>C (p.Gly421=)
c.1080A>C (p.Gly360=)
c.3312A>C (p.Gly1104=)
c.3264A>C (p.Gly1088=)
c.3033A>C (p.Gly1011=)
c.2934A>C (p.Gly978=)
c.2115A>C (p.Gly705=)
n.3666A>C
13g.51941191C>ACA388026662ATP7Bc.*1096G>T (n.*1096G>T)
c.*2190G>T (n.*2190G>T)
c.2825G>T (p.Gly942Val)
c.3446G>T (p.Gly1149Val)
c.3113G>T (p.Gly1038Val)
c.3194G>T (p.Gly1065Val)
c.3212G>T (p.Gly1071Val)
n.3585G>T
n.3809G>T
c.2381G>T (p.Gly794Val)
c.2156G>T (p.Gly719Val)
c.3251G>T (p.Gly1084Val)
c.1224G>T
c.*547G>T (n.*547G>T)
n.4190G>T
n.2791G>T
c.3302G>T (p.Gly1101Val)
c.3350G>T (p.Gly1117Val)
c.3410G>T (p.Gly1137Val)
c.2960G>T (p.Gly987Val)
c.1262G>T (p.Gly421Val)
c.1079G>T (p.Gly360Val)
c.3311G>T (p.Gly1104Val)
c.3263G>T (p.Gly1088Val)
c.3032G>T (p.Gly1011Val)
c.2933G>T (p.Gly978Val)
c.2114G>T (p.Gly705Val)
n.3665G>T
13g.51941191C=CA2091559562ATP7Bc.*1096G= (n.*1096G=)
c.*2190G= (n.*2190G=)
c.2825G= (p.Gly942=)
c.3446G= (p.Gly1149=)
c.3113G= (p.Gly1038=)
c.3194G= (p.Gly1065=)
c.3212G= (p.Gly1071=)
n.3585G=
n.3809G=
c.2381G= (p.Gly794=)
c.2156G= (p.Gly719=)
c.3251G= (p.Gly1084=)
c.1224G=
c.*547G= (n.*547G=)
n.4190G=
n.2791G=
c.3302G= (p.Gly1101=)
c.3350G= (p.Gly1117=)
c.3410G= (p.Gly1137=)
c.2960G= (p.Gly987=)
c.1262G= (p.Gly421=)
c.1079G= (p.Gly360=)
c.3311G= (p.Gly1104=)
c.3263G= (p.Gly1088=)
c.3032G= (p.Gly1011=)
c.2933G= (p.Gly978=)
c.2114G= (p.Gly705=)
n.3665G=
13g.51941191C>GCA388026664ATP7Bc.*1096G>C (n.*1096G>C)
c.*2190G>C (n.*2190G>C)
c.2825G>C (p.Gly942Ala)
c.3446G>C (p.Gly1149Ala)
c.3113G>C (p.Gly1038Ala)
c.3194G>C (p.Gly1065Ala)
c.3212G>C (p.Gly1071Ala)
n.3585G>C
n.3809G>C
c.2381G>C (p.Gly794Ala)
c.2156G>C (p.Gly719Ala)
c.3251G>C (p.Gly1084Ala)
c.1224G>C
c.*547G>C (n.*547G>C)
n.4190G>C
n.2791G>C
c.3302G>C (p.Gly1101Ala)
c.3350G>C (p.Gly1117Ala)
c.3410G>C (p.Gly1137Ala)
c.2960G>C (p.Gly987Ala)
c.1262G>C (p.Gly421Ala)
c.1079G>C (p.Gly360Ala)
c.3311G>C (p.Gly1104Ala)
c.3263G>C (p.Gly1088Ala)
c.3032G>C (p.Gly1011Ala)
c.2933G>C (p.Gly978Ala)
c.2114G>C (p.Gly705Ala)
n.3665G>C
 ClinVar dbSNP
13g.51941191C>TCA388026666ATP7Bc.*1096G>A (n.*1096G>A)
c.*2190G>A (n.*2190G>A)
c.2825G>A (p.Gly942Glu)
c.3446G>A (p.Gly1149Glu)
c.3113G>A (p.Gly1038Glu)
c.3194G>A (p.Gly1065Glu)
c.3212G>A (p.Gly1071Glu)
n.3585G>A
n.3809G>A
c.2381G>A (p.Gly794Glu)
c.2156G>A (p.Gly719Glu)
c.3251G>A (p.Gly1084Glu)
c.1224G>A
c.*547G>A (n.*547G>A)
n.4190G>A
n.2791G>A
c.3302G>A (p.Gly1101Glu)
c.3350G>A (p.Gly1117Glu)
c.3410G>A (p.Gly1137Glu)
c.2960G>A (p.Gly987Glu)
c.1262G>A (p.Gly421Glu)
c.1079G>A (p.Gly360Glu)
c.3311G>A (p.Gly1104Glu)
c.3263G>A (p.Gly1088Glu)
c.3032G>A (p.Gly1011Glu)
c.2933G>A (p.Gly978Glu)
c.2114G>A (p.Gly705Glu)
n.3665G>A
13g.51941192C>ACA388026671ATP7Bc.*1095G>T (n.*1095G>T)
c.*2189G>T (n.*2189G>T)
c.2824G>T (p.Gly942Ter)
c.3445G>T (p.Gly1149Ter)
c.3112G>T (p.Gly1038Ter)
c.3193G>T (p.Gly1065Ter)
c.3211G>T (p.Gly1071Ter)
n.3584G>T
n.3808G>T
c.2380G>T (p.Gly794Ter)
c.2155G>T (p.Gly719Ter)
c.3250G>T (p.Gly1084Ter)
c.1223G>T
c.*546G>T (n.*546G>T)
n.4189G>T
n.2790G>T
c.3301G>T (p.Gly1101Ter)
c.3349G>T (p.Gly1117Ter)
c.3409G>T (p.Gly1137Ter)
c.2959G>T (p.Gly987Ter)
c.1261G>T (p.Gly421Ter)
c.1078G>T (p.Gly360Ter)
c.3310G>T (p.Gly1104Ter)
c.3262G>T (p.Gly1088Ter)
c.3031G>T (p.Gly1011Ter)
c.2932G>T (p.Gly978Ter)
c.2113G>T (p.Gly705Ter)
n.3664G>T
13g.51941192C=CA2091559565ATP7Bc.*1095G= (n.*1095G=)
c.*2189G= (n.*2189G=)
c.2824G= (p.Gly942=)
c.3445G= (p.Gly1149=)
c.3112G= (p.Gly1038=)
c.3193G= (p.Gly1065=)
c.3211G= (p.Gly1071=)
n.3584G=
n.3808G=
c.2380G= (p.Gly794=)
c.2155G= (p.Gly719=)
c.3250G= (p.Gly1084=)
c.1223G=
c.*546G= (n.*546G=)
n.4189G=
n.2790G=
c.3301G= (p.Gly1101=)
c.3349G= (p.Gly1117=)
c.3409G= (p.Gly1137=)
c.2959G= (p.Gly987=)
c.1261G= (p.Gly421=)
c.1078G= (p.Gly360=)
c.3310G= (p.Gly1104=)
c.3262G= (p.Gly1088=)
c.3031G= (p.Gly1011=)
c.2932G= (p.Gly978=)
c.2113G= (p.Gly705=)
n.3664G=
13g.51941192C>GCA388026670ATP7Bc.*1095G>C (n.*1095G>C)
c.*2189G>C (n.*2189G>C)
c.2824G>C (p.Gly942Arg)
c.3445G>C (p.Gly1149Arg)
c.3112G>C (p.Gly1038Arg)
c.3193G>C (p.Gly1065Arg)
c.3211G>C (p.Gly1071Arg)
n.3584G>C
n.3808G>C
c.2380G>C (p.Gly794Arg)
c.2155G>C (p.Gly719Arg)
c.3250G>C (p.Gly1084Arg)
c.1223G>C
c.*546G>C (n.*546G>C)
n.4189G>C
n.2790G>C
c.3301G>C (p.Gly1101Arg)
c.3349G>C (p.Gly1117Arg)
c.3409G>C (p.Gly1137Arg)
c.2959G>C (p.Gly987Arg)
c.1261G>C (p.Gly421Arg)
c.1078G>C (p.Gly360Arg)
c.3310G>C (p.Gly1104Arg)
c.3262G>C (p.Gly1088Arg)
c.3031G>C (p.Gly1011Arg)
c.2932G>C (p.Gly978Arg)
c.2113G>C (p.Gly705Arg)
n.3664G>C
 dbSNP gnomAD v4
13g.51941192C>TCA388026669ATP7Bc.*1095G>A (n.*1095G>A)
c.*2189G>A (n.*2189G>A)
c.2824G>A (p.Gly942Arg)
c.3445G>A (p.Gly1149Arg)
c.3112G>A (p.Gly1038Arg)
c.3193G>A (p.Gly1065Arg)
c.3211G>A (p.Gly1071Arg)
n.3584G>A
n.3808G>A
c.2380G>A (p.Gly794Arg)
c.2155G>A (p.Gly719Arg)
c.3250G>A (p.Gly1084Arg)
c.1223G>A
c.*546G>A (n.*546G>A)
n.4189G>A
n.2790G>A
c.3301G>A (p.Gly1101Arg)
c.3349G>A (p.Gly1117Arg)
c.3409G>A (p.Gly1137Arg)
c.2959G>A (p.Gly987Arg)
c.1261G>A (p.Gly421Arg)
c.1078G>A (p.Gly360Arg)
c.3310G>A (p.Gly1104Arg)
c.3262G>A (p.Gly1088Arg)
c.3031G>A (p.Gly1011Arg)
c.2932G>A (p.Gly978Arg)
c.2113G>A (p.Gly705Arg)
n.3664G>A
 gnomAD v4
13g.51941193A>CCA388026674ATP7Bc.*1094T>G (n.*1094T>G)
c.*2188T>G (n.*2188T>G)
c.2823T>G (p.Ile941Met)
c.3444T>G (p.Ile1148Met)
c.3111T>G (p.Ile1037Met)
c.3192T>G (p.Ile1064Met)
c.3210T>G (p.Ile1070Met)
n.3583T>G
n.3807T>G
c.2379T>G (p.Ile793Met)
c.2154T>G (p.Ile718Met)
c.3249T>G (p.Ile1083Met)
c.1222T>G
c.*545T>G (n.*545T>G)
n.4188T>G
n.2789T>G
c.3300T>G (p.Ile1100Met)
c.3348T>G (p.Ile1116Met)
c.3408T>G (p.Ile1136Met)
c.2958T>G (p.Ile986Met)
c.1260T>G (p.Ile420Met)
c.1077T>G (p.Ile359Met)
c.3309T>G (p.Ile1103Met)
c.3261T>G (p.Ile1087Met)
c.3030T>G (p.Ile1010Met)
c.2931T>G (p.Ile977Met)
c.2112T>G (p.Ile704Met)
n.3663T>G
 gnomAD v4
13g.51941193A>GCA483894133ATP7Bc.*1094T>C (n.*1094T>C)
c.*2188T>C (n.*2188T>C)
c.2823T>C (p.Ile941=)
c.3444T>C (p.Ile1148=)
c.3111T>C (p.Ile1037=)
c.3192T>C (p.Ile1064=)
c.3210T>C (p.Ile1070=)
n.3583T>C
n.3807T>C
c.2379T>C (p.Ile793=)
c.2154T>C (p.Ile718=)
c.3249T>C (p.Ile1083=)
c.1222T>C
c.*545T>C (n.*545T>C)
n.4188T>C
n.2789T>C
c.3300T>C (p.Ile1100=)
c.3348T>C (p.Ile1116=)
c.3408T>C (p.Ile1136=)
c.2958T>C (p.Ile986=)
c.1260T>C (p.Ile420=)
c.1077T>C (p.Ile359=)
c.3309T>C (p.Ile1103=)
c.3261T>C (p.Ile1087=)
c.3030T>C (p.Ile1010=)
c.2931T>C (p.Ile977=)
c.2112T>C (p.Ile704=)
n.3663T>C
13g.51941193A>TCA483894135ATP7Bc.*1094T>A (n.*1094T>A)
c.*2188T>A (n.*2188T>A)
c.2823T>A (p.Ile941=)
c.3444T>A (p.Ile1148=)
c.3111T>A (p.Ile1037=)
c.3192T>A (p.Ile1064=)
c.3210T>A (p.Ile1070=)
n.3583T>A
n.3807T>A
c.2379T>A (p.Ile793=)
c.2154T>A (p.Ile718=)
c.3249T>A (p.Ile1083=)
c.1222T>A
c.*545T>A (n.*545T>A)
n.4188T>A
n.2789T>A
c.3300T>A (p.Ile1100=)
c.3348T>A (p.Ile1116=)
c.3408T>A (p.Ile1136=)
c.2958T>A (p.Ile986=)
c.1260T>A (p.Ile420=)
c.1077T>A (p.Ile359=)
c.3309T>A (p.Ile1103=)
c.3261T>A (p.Ile1087=)
c.3030T>A (p.Ile1010=)
c.2931T>A (p.Ile977=)
c.2112T>A (p.Ile704=)
n.3663T>A
13g.51941194A=CA2091559568ATP7Bc.*1093T= (n.*1093T=)
c.*2187T= (n.*2187T=)
c.2822T= (p.Ile941=)
c.3443T= (p.Ile1148=)
c.3110T= (p.Ile1037=)
c.3191T= (p.Ile1064=)
c.3209T= (p.Ile1070=)
n.3582T=
n.3806T=
c.2378T= (p.Ile793=)
c.2153T= (p.Ile718=)
c.3248T= (p.Ile1083=)
c.1221T=
c.*544T= (n.*544T=)
n.4187T=
n.2788T=
c.3299T= (p.Ile1100=)
c.3347T= (p.Ile1116=)
c.3407T= (p.Ile1136=)
c.2957T= (p.Ile986=)
c.1259T= (p.Ile420=)
c.1076T= (p.Ile359=)
c.3308T= (p.Ile1103=)
c.3260T= (p.Ile1087=)
c.3029T= (p.Ile1010=)
c.2930T= (p.Ile977=)
c.2111T= (p.Ile704=)
n.3662T=
13g.51941194A>CCA388026675ATP7Bc.*1093T>G (n.*1093T>G)
c.*2187T>G (n.*2187T>G)
c.2822T>G (p.Ile941Ser)
c.3443T>G (p.Ile1148Ser)
c.3110T>G (p.Ile1037Ser)
c.3191T>G (p.Ile1064Ser)
c.3209T>G (p.Ile1070Ser)
n.3582T>G
n.3806T>G
c.2378T>G (p.Ile793Ser)
c.2153T>G (p.Ile718Ser)
c.3248T>G (p.Ile1083Ser)
c.1221T>G
c.*544T>G (n.*544T>G)
n.4187T>G
n.2788T>G
c.3299T>G (p.Ile1100Ser)
c.3347T>G (p.Ile1116Ser)
c.3407T>G (p.Ile1136Ser)
c.2957T>G (p.Ile986Ser)
c.1259T>G (p.Ile420Ser)
c.1076T>G (p.Ile359Ser)
c.3308T>G (p.Ile1103Ser)
c.3260T>G (p.Ile1087Ser)
c.3029T>G (p.Ile1010Ser)
c.2930T>G (p.Ile977Ser)
c.2111T>G (p.Ile704Ser)
n.3662T>G
13g.51941194A>GCA259856ATP7Bc.*1093T>C (n.*1093T>C)
c.*2187T>C (n.*2187T>C)
c.2822T>C (p.Ile941Thr)
c.3443T>C (p.Ile1148Thr)
c.3110T>C (p.Ile1037Thr)
c.3191T>C (p.Ile1064Thr)
c.3209T>C (p.Ile1070Thr)
n.3582T>C
n.3806T>C
c.2378T>C (p.Ile793Thr)
c.2153T>C (p.Ile718Thr)
c.3248T>C (p.Ile1083Thr)
c.1221T>C
c.*544T>C (n.*544T>C)
n.4187T>C
n.2788T>C
c.3299T>C (p.Ile1100Thr)
c.3347T>C (p.Ile1116Thr)
c.3407T>C (p.Ile1136Thr)
c.2957T>C (p.Ile986Thr)
c.1259T>C (p.Ile420Thr)
c.1076T>C (p.Ile359Thr)
c.3308T>C (p.Ile1103Thr)
c.3260T>C (p.Ile1087Thr)
c.3029T>C (p.Ile1010Thr)
c.2930T>C (p.Ile977Thr)
c.2111T>C (p.Ile704Thr)
n.3662T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941194A>TCA388026681ATP7Bc.*1093T>A (n.*1093T>A)
c.*2187T>A (n.*2187T>A)
c.2822T>A (p.Ile941Asn)
c.3443T>A (p.Ile1148Asn)
c.3110T>A (p.Ile1037Asn)
c.3191T>A (p.Ile1064Asn)
c.3209T>A (p.Ile1070Asn)
n.3582T>A
n.3806T>A
c.2378T>A (p.Ile793Asn)
c.2153T>A (p.Ile718Asn)
c.3248T>A (p.Ile1083Asn)
c.1221T>A
c.*544T>A (n.*544T>A)
n.4187T>A
n.2788T>A
c.3299T>A (p.Ile1100Asn)
c.3347T>A (p.Ile1116Asn)
c.3407T>A (p.Ile1136Asn)
c.2957T>A (p.Ile986Asn)
c.1259T>A (p.Ile420Asn)
c.1076T>A (p.Ile359Asn)
c.3308T>A (p.Ile1103Asn)
c.3260T>A (p.Ile1087Asn)
c.3029T>A (p.Ile1010Asn)
c.2930T>A (p.Ile977Asn)
c.2111T>A (p.Ile704Asn)
n.3662T>A
13g.51941195T>ACA388026684ATP7Bc.*1092A>T (n.*1092A>T)
c.*2186A>T (n.*2186A>T)
c.2821A>T (p.Ile941Phe)
c.3442A>T (p.Ile1148Phe)
c.3109A>T (p.Ile1037Phe)
c.3190A>T (p.Ile1064Phe)
c.3208A>T (p.Ile1070Phe)
n.3581A>T
n.3805A>T
c.2377A>T (p.Ile793Phe)
c.2152A>T (p.Ile718Phe)
c.3247A>T (p.Ile1083Phe)
c.1220A>T
c.*543A>T (n.*543A>T)
n.4186A>T
n.2787A>T
c.3298A>T (p.Ile1100Phe)
c.3346A>T (p.Ile1116Phe)
c.3406A>T (p.Ile1136Phe)
c.2956A>T (p.Ile986Phe)
c.1258A>T (p.Ile420Phe)
c.1075A>T (p.Ile359Phe)
c.3307A>T (p.Ile1103Phe)
c.3259A>T (p.Ile1087Phe)
c.3028A>T (p.Ile1010Phe)
c.2929A>T (p.Ile977Phe)
c.2110A>T (p.Ile704Phe)
n.3661A>T
13g.51941195T>CCA388026687ATP7Bc.*1092A>G (n.*1092A>G)
c.*2186A>G (n.*2186A>G)
c.2821A>G (p.Ile941Val)
c.3442A>G (p.Ile1148Val)
c.3109A>G (p.Ile1037Val)
c.3190A>G (p.Ile1064Val)
c.3208A>G (p.Ile1070Val)
n.3581A>G
n.3805A>G
c.2377A>G (p.Ile793Val)
c.2152A>G (p.Ile718Val)
c.3247A>G (p.Ile1083Val)
c.1220A>G
c.*543A>G (n.*543A>G)
n.4186A>G
n.2787A>G
c.3298A>G (p.Ile1100Val)
c.3346A>G (p.Ile1116Val)
c.3406A>G (p.Ile1136Val)
c.2956A>G (p.Ile986Val)
c.1258A>G (p.Ile420Val)
c.1075A>G (p.Ile359Val)
c.3307A>G (p.Ile1103Val)
c.3259A>G (p.Ile1087Val)
c.3028A>G (p.Ile1010Val)
c.2929A>G (p.Ile977Val)
c.2110A>G (p.Ile704Val)
n.3661A>G
13g.51941195T>GCA388026689ATP7Bc.*1092A>C (n.*1092A>C)
c.*2186A>C (n.*2186A>C)
c.2821A>C (p.Ile941Leu)
c.3442A>C (p.Ile1148Leu)
c.3109A>C (p.Ile1037Leu)
c.3190A>C (p.Ile1064Leu)
c.3208A>C (p.Ile1070Leu)
n.3581A>C
n.3805A>C
c.2377A>C (p.Ile793Leu)
c.2152A>C (p.Ile718Leu)
c.3247A>C (p.Ile1083Leu)
c.1220A>C
c.*543A>C (n.*543A>C)
n.4186A>C
n.2787A>C
c.3298A>C (p.Ile1100Leu)
c.3346A>C (p.Ile1116Leu)
c.3406A>C (p.Ile1136Leu)
c.2956A>C (p.Ile986Leu)
c.1258A>C (p.Ile420Leu)
c.1075A>C (p.Ile359Leu)
c.3307A>C (p.Ile1103Leu)
c.3259A>C (p.Ile1087Leu)
c.3028A>C (p.Ile1010Leu)
c.2929A>C (p.Ile977Leu)
c.2110A>C (p.Ile704Leu)
n.3661A>C
13g.51941196C>ACA483894142ATP7Bc.*1091G>T (n.*1091G>T)
c.*2185G>T (n.*2185G>T)
c.2820G>T (p.Leu940=)
c.3441G>T (p.Leu1147=)
c.3108G>T (p.Leu1036=)
c.3189G>T (p.Leu1063=)
c.3207G>T (p.Leu1069=)
n.3580G>T
n.3804G>T
c.2376G>T (p.Leu792=)
c.2151G>T (p.Leu717=)
c.3246G>T (p.Leu1082=)
c.1219G>T
c.*542G>T (n.*542G>T)
n.4185G>T
n.2786G>T
c.3297G>T (p.Leu1099=)
c.3345G>T (p.Leu1115=)
c.3405G>T (p.Leu1135=)
c.2955G>T (p.Leu985=)
c.1257G>T (p.Leu419=)
c.1074G>T (p.Leu358=)
c.3306G>T (p.Leu1102=)
c.3258G>T (p.Leu1086=)
c.3027G>T (p.Leu1009=)
c.2928G>T (p.Leu976=)
c.2109G>T (p.Leu703=)
n.3660G>T
13g.51941196C>GCA483894144ATP7Bc.*1091G>C (n.*1091G>C)
c.*2185G>C (n.*2185G>C)
c.2820G>C (p.Leu940=)
c.3441G>C (p.Leu1147=)
c.3108G>C (p.Leu1036=)
c.3189G>C (p.Leu1063=)
c.3207G>C (p.Leu1069=)
n.3580G>C
n.3804G>C
c.2376G>C (p.Leu792=)
c.2151G>C (p.Leu717=)
c.3246G>C (p.Leu1082=)
c.1219G>C
c.*542G>C (n.*542G>C)
n.4185G>C
n.2786G>C
c.3297G>C (p.Leu1099=)
c.3345G>C (p.Leu1115=)
c.3405G>C (p.Leu1135=)
c.2955G>C (p.Leu985=)
c.1257G>C (p.Leu419=)
c.1074G>C (p.Leu358=)
c.3306G>C (p.Leu1102=)
c.3258G>C (p.Leu1086=)
c.3027G>C (p.Leu1009=)
c.2928G>C (p.Leu976=)
c.2109G>C (p.Leu703=)
n.3660G>C
 gnomAD v4
13g.51941196C>TCA483894146ATP7Bc.*1091G>A (n.*1091G>A)
c.*2185G>A (n.*2185G>A)
c.2820G>A (p.Leu940=)
c.3441G>A (p.Leu1147=)
c.3108G>A (p.Leu1036=)
c.3189G>A (p.Leu1063=)
c.3207G>A (p.Leu1069=)
n.3580G>A
n.3804G>A
c.2376G>A (p.Leu792=)
c.2151G>A (p.Leu717=)
c.3246G>A (p.Leu1082=)
c.1219G>A
c.*542G>A (n.*542G>A)
n.4185G>A
n.2786G>A
c.3297G>A (p.Leu1099=)
c.3345G>A (p.Leu1115=)
c.3405G>A (p.Leu1135=)
c.2955G>A (p.Leu985=)
c.1257G>A (p.Leu419=)
c.1074G>A (p.Leu358=)
c.3306G>A (p.Leu1102=)
c.3258G>A (p.Leu1086=)
c.3027G>A (p.Leu1009=)
c.2928G>A (p.Leu976=)
c.2109G>A (p.Leu703=)
n.3660G>A
13g.51941197A=CA2091559571ATP7Bc.*1090T= (n.*1090T=)
c.*2184T= (n.*2184T=)
c.2819T= (p.Leu940=)
c.3440T= (p.Leu1147=)
c.3107T= (p.Leu1036=)
c.3188T= (p.Leu1063=)
c.3206T= (p.Leu1069=)
n.3579T=
n.3803T=
c.2375T= (p.Leu792=)
c.2150T= (p.Leu717=)
c.3245T= (p.Leu1082=)
c.1218T=
c.*541T= (n.*541T=)
n.4184T=
n.2785T=
c.3296T= (p.Leu1099=)
c.3344T= (p.Leu1115=)
c.3404T= (p.Leu1135=)
c.2954T= (p.Leu985=)
c.1256T= (p.Leu419=)
c.1073T= (p.Leu358=)
c.3305T= (p.Leu1102=)
c.3257T= (p.Leu1086=)
c.3026T= (p.Leu1009=)
c.2927T= (p.Leu976=)
c.2108T= (p.Leu703=)
n.3659T=
13g.51941197A>CCA6988683ATP7Bc.*1090T>G (n.*1090T>G)
c.*2184T>G (n.*2184T>G)
c.2819T>G (p.Leu940Arg)
c.3440T>G (p.Leu1147Arg)
c.3107T>G (p.Leu1036Arg)
c.3188T>G (p.Leu1063Arg)
c.3206T>G (p.Leu1069Arg)
n.3579T>G
n.3803T>G
c.2375T>G (p.Leu792Arg)
c.2150T>G (p.Leu717Arg)
c.3245T>G (p.Leu1082Arg)
c.1218T>G
c.*541T>G (n.*541T>G)
n.4184T>G
n.2785T>G
c.3296T>G (p.Leu1099Arg)
c.3344T>G (p.Leu1115Arg)
c.3404T>G (p.Leu1135Arg)
c.2954T>G (p.Leu985Arg)
c.1256T>G (p.Leu419Arg)
c.1073T>G (p.Leu358Arg)
c.3305T>G (p.Leu1102Arg)
c.3257T>G (p.Leu1086Arg)
c.3026T>G (p.Leu1009Arg)
c.2927T>G (p.Leu976Arg)
c.2108T>G (p.Leu703Arg)
n.3659T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941197A>GCA388026695ATP7Bc.*1090T>C (n.*1090T>C)
c.*2184T>C (n.*2184T>C)
c.2819T>C (p.Leu940Pro)
c.3440T>C (p.Leu1147Pro)
c.3107T>C (p.Leu1036Pro)
c.3188T>C (p.Leu1063Pro)
c.3206T>C (p.Leu1069Pro)
n.3579T>C
n.3803T>C
c.2375T>C (p.Leu792Pro)
c.2150T>C (p.Leu717Pro)
c.3245T>C (p.Leu1082Pro)
c.1218T>C
c.*541T>C (n.*541T>C)
n.4184T>C
n.2785T>C
c.3296T>C (p.Leu1099Pro)
c.3344T>C (p.Leu1115Pro)
c.3404T>C (p.Leu1135Pro)
c.2954T>C (p.Leu985Pro)
c.1256T>C (p.Leu419Pro)
c.1073T>C (p.Leu358Pro)
c.3305T>C (p.Leu1102Pro)
c.3257T>C (p.Leu1086Pro)
c.3026T>C (p.Leu1009Pro)
c.2927T>C (p.Leu976Pro)
c.2108T>C (p.Leu703Pro)
n.3659T>C
 gnomAD v4
13g.51941197A>TCA388026699ATP7Bc.*1090T>A (n.*1090T>A)
c.*2184T>A (n.*2184T>A)
c.2819T>A (p.Leu940Gln)
c.3440T>A (p.Leu1147Gln)
c.3107T>A (p.Leu1036Gln)
c.3188T>A (p.Leu1063Gln)
c.3206T>A (p.Leu1069Gln)
n.3579T>A
n.3803T>A
c.2375T>A (p.Leu792Gln)
c.2150T>A (p.Leu717Gln)
c.3245T>A (p.Leu1082Gln)
c.1218T>A
c.*541T>A (n.*541T>A)
n.4184T>A
n.2785T>A
c.3296T>A (p.Leu1099Gln)
c.3344T>A (p.Leu1115Gln)
c.3404T>A (p.Leu1135Gln)
c.2954T>A (p.Leu985Gln)
c.1256T>A (p.Leu419Gln)
c.1073T>A (p.Leu358Gln)
c.3305T>A (p.Leu1102Gln)
c.3257T>A (p.Leu1086Gln)
c.3026T>A (p.Leu1009Gln)
c.2927T>A (p.Leu976Gln)
c.2108T>A (p.Leu703Gln)
n.3659T>A
13g.51941198G>ACA483894152ATP7Bc.*1089C>T (n.*1089C>T)
c.*2183C>T (n.*2183C>T)
c.2818C>T (p.Leu940=)
c.3439C>T (p.Leu1147=)
c.3106C>T (p.Leu1036=)
c.3187C>T (p.Leu1063=)
c.3205C>T (p.Leu1069=)
n.3578C>T
n.3802C>T
c.2374C>T (p.Leu792=)
c.2149C>T (p.Leu717=)
c.3244C>T (p.Leu1082=)
c.1217C>T
c.*540C>T (n.*540C>T)
n.4183C>T
n.2784C>T
c.3295C>T (p.Leu1099=)
c.3343C>T (p.Leu1115=)
c.3403C>T (p.Leu1135=)
c.2953C>T (p.Leu985=)
c.1255C>T (p.Leu419=)
c.1072C>T (p.Leu358=)
c.3304C>T (p.Leu1102=)
c.3256C>T (p.Leu1086=)
c.3025C>T (p.Leu1009=)
c.2926C>T (p.Leu976=)
c.2107C>T (p.Leu703=)
n.3658C>T
 gnomAD v4
13g.51941198G>CCA388026707ATP7Bc.*1089C>G (n.*1089C>G)
c.*2183C>G (n.*2183C>G)
c.2818C>G (p.Leu940Val)
c.3439C>G (p.Leu1147Val)
c.3106C>G (p.Leu1036Val)
c.3187C>G (p.Leu1063Val)
c.3205C>G (p.Leu1069Val)
n.3578C>G
n.3802C>G
c.2374C>G (p.Leu792Val)
c.2149C>G (p.Leu717Val)
c.3244C>G (p.Leu1082Val)
c.1217C>G
c.*540C>G (n.*540C>G)
n.4183C>G
n.2784C>G
c.3295C>G (p.Leu1099Val)
c.3343C>G (p.Leu1115Val)
c.3403C>G (p.Leu1135Val)
c.2953C>G (p.Leu985Val)
c.1255C>G (p.Leu419Val)
c.1072C>G (p.Leu358Val)
c.3304C>G (p.Leu1102Val)
c.3256C>G (p.Leu1086Val)
c.3025C>G (p.Leu1009Val)
c.2926C>G (p.Leu976Val)
c.2107C>G (p.Leu703Val)
n.3658C>G
13g.51941198G>TCA388026708ATP7Bc.*1089C>A (n.*1089C>A)
c.*2183C>A (n.*2183C>A)
c.2818C>A (p.Leu940Met)
c.3439C>A (p.Leu1147Met)
c.3106C>A (p.Leu1036Met)
c.3187C>A (p.Leu1063Met)
c.3205C>A (p.Leu1069Met)
n.3578C>A
n.3802C>A
c.2374C>A (p.Leu792Met)
c.2149C>A (p.Leu717Met)
c.3244C>A (p.Leu1082Met)
c.1217C>A
c.*540C>A (n.*540C>A)
n.4183C>A
n.2784C>A
c.3295C>A (p.Leu1099Met)
c.3343C>A (p.Leu1115Met)
c.3403C>A (p.Leu1135Met)
c.2953C>A (p.Leu985Met)
c.1255C>A (p.Leu419Met)
c.1072C>A (p.Leu358Met)
c.3304C>A (p.Leu1102Met)
c.3256C>A (p.Leu1086Met)
c.3025C>A (p.Leu1009Met)
c.2926C>A (p.Leu976Met)
c.2107C>A (p.Leu703Met)
n.3658C>A
13g.51941198_51941200delinsGCACA2091559573ATP7Bc.*1087_*1089delinsTGC (n.*1087_*1089delinsTGC)
c.*2181_*2183delinsTGC (n.*2181_*2183delinsTGC)
c.2816_2818delinsTGC (p.Val939=)
c.3437_3439delinsTGC (p.Val1146=)
c.3104_3106delinsTGC (p.Val1035=)
c.3185_3187delinsTGC (p.Val1062=)
c.3203_3205delinsTGC (p.Val1068=)
n.3576_3578delinsTGC
n.3800_3802delinsTGC
c.2372_2374delinsTGC (p.Val791=)
c.2147_2149delinsTGC (p.Val716=)
c.3242_3244delinsTGC (p.Val1081=)
c.1215_1217delinsTGC
c.*538_*540delinsTGC (n.*538_*540delinsTGC)
n.4181_4183delinsTGC
n.2782_2784delinsTGC
c.3293_3295delinsTGC (p.Val1098=)
c.3341_3343delinsTGC (p.Val1114=)
c.3401_3403delinsTGC (p.Val1134=)
c.2951_2953delinsTGC (p.Val984=)
c.1253_1255delinsTGC (p.Val418=)
c.1070_1072delinsTGC (p.Val357=)
c.3302_3304delinsTGC (p.Val1101=)
c.3254_3256delinsTGC (p.Val1085=)
c.3023_3025delinsTGC (p.Val1008=)
c.2924_2926delinsTGC (p.Val975=)
c.2105_2107delinsTGC (p.Val702=)
n.3656_3658delinsTGC
13g.51941199C>ACA483894155ATP7Bc.*1088G>T (n.*1088G>T)
c.*2182G>T (n.*2182G>T)
c.2817G>T (p.Val939=)
c.3438G>T (p.Val1146=)
c.3105G>T (p.Val1035=)
c.3186G>T (p.Val1062=)
c.3204G>T (p.Val1068=)
n.3577G>T
n.3801G>T
c.2373G>T (p.Val791=)
c.2148G>T (p.Val716=)
c.3243G>T (p.Val1081=)
c.1216G>T
c.*539G>T (n.*539G>T)
n.4182G>T
n.2783G>T
c.3294G>T (p.Val1098=)
c.3342G>T (p.Val1114=)
c.3402G>T (p.Val1134=)
c.2952G>T (p.Val984=)
c.1254G>T (p.Val418=)
c.1071G>T (p.Val357=)
c.3303G>T (p.Val1101=)
c.3255G>T (p.Val1085=)
c.3024G>T (p.Val1008=)
c.2925G>T (p.Val975=)
c.2106G>T (p.Val702=)
n.3657G>T
13g.51941199C>GCA483894157ATP7Bc.*1088G>C (n.*1088G>C)
c.*2182G>C (n.*2182G>C)
c.2817G>C (p.Val939=)
c.3438G>C (p.Val1146=)
c.3105G>C (p.Val1035=)
c.3186G>C (p.Val1062=)
c.3204G>C (p.Val1068=)
n.3577G>C
n.3801G>C
c.2373G>C (p.Val791=)
c.2148G>C (p.Val716=)
c.3243G>C (p.Val1081=)
c.1216G>C
c.*539G>C (n.*539G>C)
n.4182G>C
n.2783G>C
c.3294G>C (p.Val1098=)
c.3342G>C (p.Val1114=)
c.3402G>C (p.Val1134=)
c.2952G>C (p.Val984=)
c.1254G>C (p.Val418=)
c.1071G>C (p.Val357=)
c.3303G>C (p.Val1101=)
c.3255G>C (p.Val1085=)
c.3024G>C (p.Val1008=)
c.2925G>C (p.Val975=)
c.2106G>C (p.Val702=)
n.3657G>C
13g.51941199C>TCA483894159ATP7Bc.*1088G>A (n.*1088G>A)
c.*2182G>A (n.*2182G>A)
c.2817G>A (p.Val939=)
c.3438G>A (p.Val1146=)
c.3105G>A (p.Val1035=)
c.3186G>A (p.Val1062=)
c.3204G>A (p.Val1068=)
n.3577G>A
n.3801G>A
c.2373G>A (p.Val791=)
c.2148G>A (p.Val716=)
c.3243G>A (p.Val1081=)
c.1216G>A
c.*539G>A (n.*539G>A)
n.4182G>A
n.2783G>A
c.3294G>A (p.Val1098=)
c.3342G>A (p.Val1114=)
c.3402G>A (p.Val1134=)
c.2952G>A (p.Val984=)
c.1254G>A (p.Val418=)
c.1071G>A (p.Val357=)
c.3303G>A (p.Val1101=)
c.3255G>A (p.Val1085=)
c.3024G>A (p.Val1008=)
c.2925G>A (p.Val975=)
c.2106G>A (p.Val702=)
n.3657G>A
13g.51941201_51941202delCA2091559576ATP7Bc.*1087_*1088del (n.*1087_*1088del)
c.*2181_*2182del (n.*2181_*2182del)
c.2816_2817del (p.Val939AlafsTer6)
c.3437_3438del (p.Val1146AlafsTer6)
c.3104_3105del (p.Val1035AlafsTer6)
c.3185_3186del (p.Val1062AlafsTer6)
c.3203_3204del (p.Val1068AlafsTer6)
n.3576_3577del
n.3800_3801del
c.2372_2373del (p.Val791AlafsTer6)
c.2147_2148del (p.Val716AlafsTer6)
c.3242_3243del (p.Val1081AlafsTer6)
c.1215_1216del
c.*538_*539del (n.*538_*539del)
n.4181_4182del
n.2782_2783del
c.3293_3294del (p.Val1098AlafsTer6)
c.3341_3342del (p.Val1114AlafsTer6)
c.3401_3402del (p.Val1134AlafsTer6)
c.2951_2952del (p.Val984AlafsTer6)
c.1253_1254del (p.Val418AlafsTer6)
c.1070_1071del (p.Val357AlafsTer6)
c.3302_3303del (p.Val1101AlafsTer6)
c.3254_3255del (p.Val1085AlafsTer6)
c.3023_3024del (p.Val1008AlafsTer6)
c.2924_2925del (p.Val975AlafsTer6)
c.2105_2106del (p.Val702AlafsTer6)
n.3656_3657del
 ClinVar dbSNP
13g.51941200A>CCA388026714ATP7Bc.*1087T>G (n.*1087T>G)
c.*2181T>G (n.*2181T>G)
c.2816T>G (p.Val939Gly)
c.3437T>G (p.Val1146Gly)
c.3104T>G (p.Val1035Gly)
c.3185T>G (p.Val1062Gly)
c.3203T>G (p.Val1068Gly)
n.3576T>G
n.3800T>G
c.2372T>G (p.Val791Gly)
c.2147T>G (p.Val716Gly)
c.3242T>G (p.Val1081Gly)
c.1215T>G
c.*538T>G (n.*538T>G)
n.4181T>G
n.2782T>G
c.3293T>G (p.Val1098Gly)
c.3341T>G (p.Val1114Gly)
c.3401T>G (p.Val1134Gly)
c.2951T>G (p.Val984Gly)
c.1253T>G (p.Val418Gly)
c.1070T>G (p.Val357Gly)
c.3302T>G (p.Val1101Gly)
c.3254T>G (p.Val1085Gly)
c.3023T>G (p.Val1008Gly)
c.2924T>G (p.Val975Gly)
c.2105T>G (p.Val702Gly)
n.3656T>G
13g.51941200A>GCA388026713ATP7Bc.*1087T>C (n.*1087T>C)
c.*2181T>C (n.*2181T>C)
c.2816T>C (p.Val939Ala)
c.3437T>C (p.Val1146Ala)
c.3104T>C (p.Val1035Ala)
c.3185T>C (p.Val1062Ala)
c.3203T>C (p.Val1068Ala)
n.3576T>C
n.3800T>C
c.2372T>C (p.Val791Ala)
c.2147T>C (p.Val716Ala)
c.3242T>C (p.Val1081Ala)
c.1215T>C
c.*538T>C (n.*538T>C)
n.4181T>C
n.2782T>C
c.3293T>C (p.Val1098Ala)
c.3341T>C (p.Val1114Ala)
c.3401T>C (p.Val1134Ala)
c.2951T>C (p.Val984Ala)
c.1253T>C (p.Val418Ala)
c.1070T>C (p.Val357Ala)
c.3302T>C (p.Val1101Ala)
c.3254T>C (p.Val1085Ala)
c.3023T>C (p.Val1008Ala)
c.2924T>C (p.Val975Ala)
c.2105T>C (p.Val702Ala)
n.3656T>C
 ClinVar dbSNP gnomAD v4
13g.51941200A>TCA388026712ATP7Bc.*1087T>A (n.*1087T>A)
c.*2181T>A (n.*2181T>A)
c.2816T>A (p.Val939Glu)
c.3437T>A (p.Val1146Glu)
c.3104T>A (p.Val1035Glu)
c.3185T>A (p.Val1062Glu)
c.3203T>A (p.Val1068Glu)
n.3576T>A
n.3800T>A
c.2372T>A (p.Val791Glu)
c.2147T>A (p.Val716Glu)
c.3242T>A (p.Val1081Glu)
c.1215T>A
c.*538T>A (n.*538T>A)
n.4181T>A
n.2782T>A
c.3293T>A (p.Val1098Glu)
c.3341T>A (p.Val1114Glu)
c.3401T>A (p.Val1134Glu)
c.2951T>A (p.Val984Glu)
c.1253T>A (p.Val418Glu)
c.1070T>A (p.Val357Glu)
c.3302T>A (p.Val1101Glu)
c.3254T>A (p.Val1085Glu)
c.3023T>A (p.Val1008Glu)
c.2924T>A (p.Val975Glu)
c.2105T>A (p.Val702Glu)
n.3656T>A
13g.51941201C>ACA388026715ATP7Bc.*1086G>T (n.*1086G>T)
c.*2180G>T (n.*2180G>T)
c.2815G>T (p.Val939Leu)
c.3436G>T (p.Val1146Leu)
c.3103G>T (p.Val1035Leu)
c.3184G>T (p.Val1062Leu)
c.3202G>T (p.Val1068Leu)
n.3575G>T
n.3799G>T
c.2371G>T (p.Val791Leu)
c.2146G>T (p.Val716Leu)
c.3241G>T (p.Val1081Leu)
c.1214G>T
c.*537G>T (n.*537G>T)
n.4180G>T
n.2781G>T
c.3292G>T (p.Val1098Leu)
c.3340G>T (p.Val1114Leu)
c.3400G>T (p.Val1134Leu)
c.2950G>T (p.Val984Leu)
c.1252G>T (p.Val418Leu)
c.1069G>T (p.Val357Leu)
c.3301G>T (p.Val1101Leu)
c.3253G>T (p.Val1085Leu)
c.3022G>T (p.Val1008Leu)
c.2923G>T (p.Val975Leu)
c.2104G>T (p.Val702Leu)
n.3655G>T
13g.51941201C=CA2091559580ATP7Bc.*1086G= (n.*1086G=)
c.*2180G= (n.*2180G=)
c.2815G= (p.Val939=)
c.3436G= (p.Val1146=)
c.3103G= (p.Val1035=)
c.3184G= (p.Val1062=)
c.3202G= (p.Val1068=)
n.3575G=
n.3799G=
c.2371G= (p.Val791=)
c.2146G= (p.Val716=)
c.3241G= (p.Val1081=)
c.1214G=
c.*537G= (n.*537G=)
n.4180G=
n.2781G=
c.3292G= (p.Val1098=)
c.3340G= (p.Val1114=)
c.3400G= (p.Val1134=)
c.2950G= (p.Val984=)
c.1252G= (p.Val418=)
c.1069G= (p.Val357=)
c.3301G= (p.Val1101=)
c.3253G= (p.Val1085=)
c.3022G= (p.Val1008=)
c.2923G= (p.Val975=)
c.2104G= (p.Val702=)
n.3655G=
13g.51941201C>GCA388026722ATP7Bc.*1086G>C (n.*1086G>C)
c.*2180G>C (n.*2180G>C)
c.2815G>C (p.Val939Leu)
c.3436G>C (p.Val1146Leu)
c.3103G>C (p.Val1035Leu)
c.3184G>C (p.Val1062Leu)
c.3202G>C (p.Val1068Leu)
n.3575G>C
n.3799G>C
c.2371G>C (p.Val791Leu)
c.2146G>C (p.Val716Leu)
c.3241G>C (p.Val1081Leu)
c.1214G>C
c.*537G>C (n.*537G>C)
n.4180G>C
n.2781G>C
c.3292G>C (p.Val1098Leu)
c.3340G>C (p.Val1114Leu)
c.3400G>C (p.Val1134Leu)
c.2950G>C (p.Val984Leu)
c.1252G>C (p.Val418Leu)
c.1069G>C (p.Val357Leu)
c.3301G>C (p.Val1101Leu)
c.3253G>C (p.Val1085Leu)
c.3022G>C (p.Val1008Leu)
c.2923G>C (p.Val975Leu)
c.2104G>C (p.Val702Leu)
n.3655G>C
13g.51941201C>TCA388026717ATP7Bc.*1086G>A (n.*1086G>A)
c.*2180G>A (n.*2180G>A)
c.2815G>A (p.Val939Met)
c.3436G>A (p.Val1146Met)
c.3103G>A (p.Val1035Met)
c.3184G>A (p.Val1062Met)
c.3202G>A (p.Val1068Met)
n.3575G>A
n.3799G>A
c.2371G>A (p.Val791Met)
c.2146G>A (p.Val716Met)
c.3241G>A (p.Val1081Met)
c.1214G>A
c.*537G>A (n.*537G>A)
n.4180G>A
n.2781G>A
c.3292G>A (p.Val1098Met)
c.3340G>A (p.Val1114Met)
c.3400G>A (p.Val1134Met)
c.2950G>A (p.Val984Met)
c.1252G>A (p.Val418Met)
c.1069G>A (p.Val357Met)
c.3301G>A (p.Val1101Met)
c.3253G>A (p.Val1085Met)
c.3022G>A (p.Val1008Met)
c.2923G>A (p.Val975Met)
c.2104G>A (p.Val702Met)
n.3655G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51941202A>CCA483894167ATP7Bc.*1085T>G (n.*1085T>G)
c.*2179T>G (n.*2179T>G)
c.2814T>G (p.Ser938=)
c.3435T>G (p.Ser1145=)
c.3102T>G (p.Ser1034=)
c.3183T>G (p.Ser1061=)
c.3201T>G (p.Ser1067=)
n.3574T>G
n.3798T>G
c.2370T>G (p.Ser790=)
c.2145T>G (p.Ser715=)
c.3240T>G (p.Ser1080=)
c.1213T>G
c.*536T>G (n.*536T>G)
n.4179T>G
n.2780T>G
c.3291T>G (p.Ser1097=)
c.3339T>G (p.Ser1113=)
c.3399T>G (p.Ser1133=)
c.2949T>G (p.Ser983=)
c.1251T>G (p.Ser417=)
c.1068T>G (p.Ser356=)
c.3300T>G (p.Ser1100=)
c.3252T>G (p.Ser1084=)
c.3021T>G (p.Ser1007=)
c.2922T>G (p.Ser974=)
c.2103T>G (p.Ser701=)
n.3654T>G
13g.51941202A>GCA483894169ATP7Bc.*1085T>C (n.*1085T>C)
c.*2179T>C (n.*2179T>C)
c.2814T>C (p.Ser938=)
c.3435T>C (p.Ser1145=)
c.3102T>C (p.Ser1034=)
c.3183T>C (p.Ser1061=)
c.3201T>C (p.Ser1067=)
n.3574T>C
n.3798T>C
c.2370T>C (p.Ser790=)
c.2145T>C (p.Ser715=)
c.3240T>C (p.Ser1080=)
c.1213T>C
c.*536T>C (n.*536T>C)
n.4179T>C
n.2780T>C
c.3291T>C (p.Ser1097=)
c.3339T>C (p.Ser1113=)
c.3399T>C (p.Ser1133=)
c.2949T>C (p.Ser983=)
c.1251T>C (p.Ser417=)
c.1068T>C (p.Ser356=)
c.3300T>C (p.Ser1100=)
c.3252T>C (p.Ser1084=)
c.3021T>C (p.Ser1007=)
c.2922T>C (p.Ser974=)
c.2103T>C (p.Ser701=)
n.3654T>C
13g.51941202A>TCA483894171ATP7Bc.*1085T>A (n.*1085T>A)
c.*2179T>A (n.*2179T>A)
c.2814T>A (p.Ser938=)
c.3435T>A (p.Ser1145=)
c.3102T>A (p.Ser1034=)
c.3183T>A (p.Ser1061=)
c.3201T>A (p.Ser1067=)
n.3574T>A
n.3798T>A
c.2370T>A (p.Ser790=)
c.2145T>A (p.Ser715=)
c.3240T>A (p.Ser1080=)
c.1213T>A
c.*536T>A (n.*536T>A)
n.4179T>A
n.2780T>A
c.3291T>A (p.Ser1097=)
c.3339T>A (p.Ser1113=)
c.3399T>A (p.Ser1133=)
c.2949T>A (p.Ser983=)
c.1251T>A (p.Ser417=)
c.1068T>A (p.Ser356=)
c.3300T>A (p.Ser1100=)
c.3252T>A (p.Ser1084=)
c.3021T>A (p.Ser1007=)
c.2922T>A (p.Ser974=)
c.2103T>A (p.Ser701=)
n.3654T>A
13g.51941203_51941206delCA912974795ATP7Bc.*1082_*1085del (n.*1082_*1085del)
c.*2176_*2179del (n.*2176_*2179del)
c.2811_2814del (p.Phe937LeufsTer3)
c.3432_3435del (p.Phe1144LeufsTer3)
c.3099_3102del (p.Phe1033LeufsTer3)
c.3180_3183del (p.Phe1060LeufsTer3)
c.3198_3201del (p.Phe1066LeufsTer3)
n.3571_3574del
n.3795_3798del
c.2367_2370del (p.Phe789LeufsTer3)
c.2142_2145del (p.Phe714LeufsTer3)
c.3237_3240del (p.Phe1079LeufsTer3)
c.1210_1213del
c.*533_*536del (n.*533_*536del)
n.4176_4179del
n.2777_2780del
c.3288_3291del (p.Phe1096LeufsTer3)
c.3336_3339del (p.Phe1112LeufsTer3)
c.3396_3399del (p.Phe1132LeufsTer3)
c.2946_2949del (p.Phe982LeufsTer3)
c.1248_1251del (p.Phe416LeufsTer3)
c.1065_1068del (p.Phe355LeufsTer3)
c.3297_3300del (p.Phe1099LeufsTer3)
c.3249_3252del (p.Phe1083LeufsTer3)
c.3018_3021del (p.Phe1006LeufsTer3)
c.2919_2922del (p.Phe973LeufsTer3)
c.2100_2103del (p.Phe700LeufsTer3)
n.3651_3654del
13g.51941203G>ACA388026725ATP7Bc.*1084C>T (n.*1084C>T)
c.*2178C>T (n.*2178C>T)
c.2813C>T (p.Ser938Phe)
c.3434C>T (p.Ser1145Phe)
c.3101C>T (p.Ser1034Phe)
c.3182C>T (p.Ser1061Phe)
c.3200C>T (p.Ser1067Phe)
n.3573C>T
n.3797C>T
c.2369C>T (p.Ser790Phe)
c.2144C>T (p.Ser715Phe)
c.3239C>T (p.Ser1080Phe)
c.1212C>T
c.*535C>T (n.*535C>T)
n.4178C>T
n.2779C>T
c.3290C>T (p.Ser1097Phe)
c.3338C>T (p.Ser1113Phe)
c.3398C>T (p.Ser1133Phe)
c.2948C>T (p.Ser983Phe)
c.1250C>T (p.Ser417Phe)
c.1067C>T (p.Ser356Phe)
c.3299C>T (p.Ser1100Phe)
c.3251C>T (p.Ser1084Phe)
c.3020C>T (p.Ser1007Phe)
c.2921C>T (p.Ser974Phe)
c.2102C>T (p.Ser701Phe)
n.3653C>T
13g.51941203G>CCA6988684ATP7Bc.*1084C>G (n.*1084C>G)
c.*2178C>G (n.*2178C>G)
c.2813C>G (p.Ser938Cys)
c.3434C>G (p.Ser1145Cys)
c.3101C>G (p.Ser1034Cys)
c.3182C>G (p.Ser1061Cys)
c.3200C>G (p.Ser1067Cys)
n.3573C>G
n.3797C>G
c.2369C>G (p.Ser790Cys)
c.2144C>G (p.Ser715Cys)
c.3239C>G (p.Ser1080Cys)
c.1212C>G
c.*535C>G (n.*535C>G)
n.4178C>G
n.2779C>G
c.3290C>G (p.Ser1097Cys)
c.3338C>G (p.Ser1113Cys)
c.3398C>G (p.Ser1133Cys)
c.2948C>G (p.Ser983Cys)
c.1250C>G (p.Ser417Cys)
c.1067C>G (p.Ser356Cys)
c.3299C>G (p.Ser1100Cys)
c.3251C>G (p.Ser1084Cys)
c.3020C>G (p.Ser1007Cys)
c.2921C>G (p.Ser974Cys)
c.2102C>G (p.Ser701Cys)
n.3653C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941203G=CA2091559586ATP7Bc.*1084C= (n.*1084C=)
c.*2178C= (n.*2178C=)
c.2813C= (p.Ser938=)
c.3434C= (p.Ser1145=)
c.3101C= (p.Ser1034=)
c.3182C= (p.Ser1061=)
c.3200C= (p.Ser1067=)
n.3573C=
n.3797C=
c.2369C= (p.Ser790=)
c.2144C= (p.Ser715=)
c.3239C= (p.Ser1080=)
c.1212C=
c.*535C= (n.*535C=)
n.4178C=
n.2779C=
c.3290C= (p.Ser1097=)
c.3338C= (p.Ser1113=)
c.3398C= (p.Ser1133=)
c.2948C= (p.Ser983=)
c.1250C= (p.Ser417=)
c.1067C= (p.Ser356=)
c.3299C= (p.Ser1100=)
c.3251C= (p.Ser1084=)
c.3020C= (p.Ser1007=)
c.2921C= (p.Ser974=)
c.2102C= (p.Ser701=)
n.3653C=
13g.51941203G>TCA388026729ATP7Bc.*1084C>A (n.*1084C>A)
c.*2178C>A (n.*2178C>A)
c.2813C>A (p.Ser938Tyr)
c.3434C>A (p.Ser1145Tyr)
c.3101C>A (p.Ser1034Tyr)
c.3182C>A (p.Ser1061Tyr)
c.3200C>A (p.Ser1067Tyr)
n.3573C>A
n.3797C>A
c.2369C>A (p.Ser790Tyr)
c.2144C>A (p.Ser715Tyr)
c.3239C>A (p.Ser1080Tyr)
c.1212C>A
c.*535C>A (n.*535C>A)
n.4178C>A
n.2779C>A
c.3290C>A (p.Ser1097Tyr)
c.3338C>A (p.Ser1113Tyr)
c.3398C>A (p.Ser1133Tyr)
c.2948C>A (p.Ser983Tyr)
c.1250C>A (p.Ser417Tyr)
c.1067C>A (p.Ser356Tyr)
c.3299C>A (p.Ser1100Tyr)
c.3251C>A (p.Ser1084Tyr)
c.3020C>A (p.Ser1007Tyr)
c.2921C>A (p.Ser974Tyr)
c.2102C>A (p.Ser701Tyr)
n.3653C>A
13g.51941203_51941206delinsGAGACA2091559588ATP7Bc.*1081_*1084delinsTCTC (n.*1081_*1084delinsTCTC)
c.*2175_*2178delinsTCTC (n.*2175_*2178delinsTCTC)
c.2810_2813delinsTCTC (p.Phe937=)
c.3431_3434delinsTCTC (p.Phe1144=)
c.3098_3101delinsTCTC (p.Phe1033=)
c.3179_3182delinsTCTC (p.Phe1060=)
c.3197_3200delinsTCTC (p.Phe1066=)
n.3570_3573delinsTCTC
n.3794_3797delinsTCTC
c.2366_2369delinsTCTC (p.Phe789=)
c.2141_2144delinsTCTC (p.Phe714=)
c.3236_3239delinsTCTC (p.Phe1079=)
c.1209_1212delinsTCTC
c.*532_*535delinsTCTC (n.*532_*535delinsTCTC)
n.4175_4178delinsTCTC
n.2776_2779delinsTCTC
c.3287_3290delinsTCTC (p.Phe1096=)
c.3335_3338delinsTCTC (p.Phe1112=)
c.3395_3398delinsTCTC (p.Phe1132=)
c.2945_2948delinsTCTC (p.Phe982=)
c.1247_1250delinsTCTC (p.Phe416=)
c.1064_1067delinsTCTC (p.Phe355=)
c.3296_3299delinsTCTC (p.Phe1099=)
c.3248_3251delinsTCTC (p.Phe1083=)
c.3017_3020delinsTCTC (p.Phe1006=)
c.2918_2921delinsTCTC (p.Phe973=)
c.2099_2102delinsTCTC (p.Phe700=)
n.3650_3653delinsTCTC
13g.51941204A>CCA388026732ATP7Bc.*1083T>G (n.*1083T>G)
c.*2177T>G (n.*2177T>G)
c.2812T>G (p.Ser938Ala)
c.3433T>G (p.Ser1145Ala)
c.3100T>G (p.Ser1034Ala)
c.3181T>G (p.Ser1061Ala)
c.3199T>G (p.Ser1067Ala)
n.3572T>G
n.3796T>G
c.2368T>G (p.Ser790Ala)
c.2143T>G (p.Ser715Ala)
c.3238T>G (p.Ser1080Ala)
c.1211T>G
c.*534T>G (n.*534T>G)
n.4177T>G
n.2778T>G
c.3289T>G (p.Ser1097Ala)
c.3337T>G (p.Ser1113Ala)
c.3397T>G (p.Ser1133Ala)
c.2947T>G (p.Ser983Ala)
c.1249T>G (p.Ser417Ala)
c.1066T>G (p.Ser356Ala)
c.3298T>G (p.Ser1100Ala)
c.3250T>G (p.Ser1084Ala)
c.3019T>G (p.Ser1007Ala)
c.2920T>G (p.Ser974Ala)
c.2101T>G (p.Ser701Ala)
n.3652T>G
13g.51941204A>GCA388026734ATP7Bc.*1083T>C (n.*1083T>C)
c.*2177T>C (n.*2177T>C)
c.2812T>C (p.Ser938Pro)
c.3433T>C (p.Ser1145Pro)
c.3100T>C (p.Ser1034Pro)
c.3181T>C (p.Ser1061Pro)
c.3199T>C (p.Ser1067Pro)
n.3572T>C
n.3796T>C
c.2368T>C (p.Ser790Pro)
c.2143T>C (p.Ser715Pro)
c.3238T>C (p.Ser1080Pro)
c.1211T>C
c.*534T>C (n.*534T>C)
n.4177T>C
n.2778T>C
c.3289T>C (p.Ser1097Pro)
c.3337T>C (p.Ser1113Pro)
c.3397T>C (p.Ser1133Pro)
c.2947T>C (p.Ser983Pro)
c.1249T>C (p.Ser417Pro)
c.1066T>C (p.Ser356Pro)
c.3298T>C (p.Ser1100Pro)
c.3250T>C (p.Ser1084Pro)
c.3019T>C (p.Ser1007Pro)
c.2920T>C (p.Ser974Pro)
c.2101T>C (p.Ser701Pro)
n.3652T>C
13g.51941204A>TCA388026736ATP7Bc.*1083T>A (n.*1083T>A)
c.*2177T>A (n.*2177T>A)
c.2812T>A (p.Ser938Thr)
c.3433T>A (p.Ser1145Thr)
c.3100T>A (p.Ser1034Thr)
c.3181T>A (p.Ser1061Thr)
c.3199T>A (p.Ser1067Thr)
n.3572T>A
n.3796T>A
c.2368T>A (p.Ser790Thr)
c.2143T>A (p.Ser715Thr)
c.3238T>A (p.Ser1080Thr)
c.1211T>A
c.*534T>A (n.*534T>A)
n.4177T>A
n.2778T>A
c.3289T>A (p.Ser1097Thr)
c.3337T>A (p.Ser1113Thr)
c.3397T>A (p.Ser1133Thr)
c.2947T>A (p.Ser983Thr)
c.1249T>A (p.Ser417Thr)
c.1066T>A (p.Ser356Thr)
c.3298T>A (p.Ser1100Thr)
c.3250T>A (p.Ser1084Thr)
c.3019T>A (p.Ser1007Thr)
c.2920T>A (p.Ser974Thr)
c.2101T>A (p.Ser701Thr)
n.3652T>A
13g.51941206_51941208delCA658823701ATP7Bc.*1081_*1083del (n.*1081_*1083del)
c.*2175_*2177del (n.*2175_*2177del)
c.2810_2812del (p.Phe937del)
c.3431_3433del (p.Phe1144del)
c.3098_3100del (p.Phe1033del)
c.3179_3181del (p.Phe1060del)
c.3197_3199del (p.Phe1066del)
n.3570_3572del
n.3794_3796del
c.2366_2368del (p.Phe789del)
c.2141_2143del (p.Phe714del)
c.3236_3238del (p.Phe1079del)
c.1209_1211del
c.*532_*534del (n.*532_*534del)
n.4175_4177del
n.2776_2778del
c.3287_3289del (p.Phe1096del)
c.3335_3337del (p.Phe1112del)
c.3395_3397del (p.Phe1132del)
c.2945_2947del (p.Phe982del)
c.1247_1249del (p.Phe416del)
c.1064_1066del (p.Phe355del)
c.3296_3298del (p.Phe1099del)
c.3248_3250del (p.Phe1083del)
c.3017_3019del (p.Phe1006del)
c.2918_2920del (p.Phe973del)
c.2099_2101del (p.Phe700del)
n.3650_3652del
 ClinVar dbSNP gnomAD v4
13g.51941205G>ACA483894179ATP7Bc.*1082C>T (n.*1082C>T)
c.*2176C>T (n.*2176C>T)
c.2811C>T (p.Phe937=)
c.3432C>T (p.Phe1144=)
c.3099C>T (p.Phe1033=)
c.3180C>T (p.Phe1060=)
c.3198C>T (p.Phe1066=)
n.3571C>T
n.3795C>T
c.2367C>T (p.Phe789=)
c.2142C>T (p.Phe714=)
c.3237C>T (p.Phe1079=)
c.1210C>T
c.*533C>T (n.*533C>T)
n.4176C>T
n.2777C>T
c.3288C>T (p.Phe1096=)
c.3336C>T (p.Phe1112=)
c.3396C>T (p.Phe1132=)
c.2946C>T (p.Phe982=)
c.1248C>T (p.Phe416=)
c.1065C>T (p.Phe355=)
c.3297C>T (p.Phe1099=)
c.3249C>T (p.Phe1083=)
c.3018C>T (p.Phe1006=)
c.2919C>T (p.Phe973=)
c.2100C>T (p.Phe700=)
n.3651C>T
13g.51941205G>CCA388026739ATP7Bc.*1082C>G (n.*1082C>G)
c.*2176C>G (n.*2176C>G)
c.2811C>G (p.Phe937Leu)
c.3432C>G (p.Phe1144Leu)
c.3099C>G (p.Phe1033Leu)
c.3180C>G (p.Phe1060Leu)
c.3198C>G (p.Phe1066Leu)
n.3571C>G
n.3795C>G
c.2367C>G (p.Phe789Leu)
c.2142C>G (p.Phe714Leu)
c.3237C>G (p.Phe1079Leu)
c.1210C>G
c.*533C>G (n.*533C>G)
n.4176C>G
n.2777C>G
c.3288C>G (p.Phe1096Leu)
c.3336C>G (p.Phe1112Leu)
c.3396C>G (p.Phe1132Leu)
c.2946C>G (p.Phe982Leu)
c.1248C>G (p.Phe416Leu)
c.1065C>G (p.Phe355Leu)
c.3297C>G (p.Phe1099Leu)
c.3249C>G (p.Phe1083Leu)
c.3018C>G (p.Phe1006Leu)
c.2919C>G (p.Phe973Leu)
c.2100C>G (p.Phe700Leu)
n.3651C>G
13g.51941205G>TCA388026741ATP7Bc.*1082C>A (n.*1082C>A)
c.*2176C>A (n.*2176C>A)
c.2811C>A (p.Phe937Leu)
c.3432C>A (p.Phe1144Leu)
c.3099C>A (p.Phe1033Leu)
c.3180C>A (p.Phe1060Leu)
c.3198C>A (p.Phe1066Leu)
n.3571C>A
n.3795C>A
c.2367C>A (p.Phe789Leu)
c.2142C>A (p.Phe714Leu)
c.3237C>A (p.Phe1079Leu)
c.1210C>A
c.*533C>A (n.*533C>A)
n.4176C>A
n.2777C>A
c.3288C>A (p.Phe1096Leu)
c.3336C>A (p.Phe1112Leu)
c.3396C>A (p.Phe1132Leu)
c.2946C>A (p.Phe982Leu)
c.1248C>A (p.Phe416Leu)
c.1065C>A (p.Phe355Leu)
c.3297C>A (p.Phe1099Leu)
c.3249C>A (p.Phe1083Leu)
c.3018C>A (p.Phe1006Leu)
c.2919C>A (p.Phe973Leu)
c.2100C>A (p.Phe700Leu)
n.3651C>A
13g.51941206A>CCA388026743ATP7Bc.*1081T>G (n.*1081T>G)
c.*2175T>G (n.*2175T>G)
c.2810T>G (p.Phe937Cys)
c.3431T>G (p.Phe1144Cys)
c.3098T>G (p.Phe1033Cys)
c.3179T>G (p.Phe1060Cys)
c.3197T>G (p.Phe1066Cys)
n.3570T>G
n.3794T>G
c.2366T>G (p.Phe789Cys)
c.2141T>G (p.Phe714Cys)
c.3236T>G (p.Phe1079Cys)
c.1209T>G
c.*532T>G (n.*532T>G)
n.4175T>G
n.2776T>G
c.3287T>G (p.Phe1096Cys)
c.3335T>G (p.Phe1112Cys)
c.3395T>G (p.Phe1132Cys)
c.2945T>G (p.Phe982Cys)
c.1247T>G (p.Phe416Cys)
c.1064T>G (p.Phe355Cys)
c.3296T>G (p.Phe1099Cys)
c.3248T>G (p.Phe1083Cys)
c.3017T>G (p.Phe1006Cys)
c.2918T>G (p.Phe973Cys)
c.2099T>G (p.Phe700Cys)
n.3650T>G
13g.51941206A>GCA388026746ATP7Bc.*1081T>C (n.*1081T>C)
c.*2175T>C (n.*2175T>C)
c.2810T>C (p.Phe937Ser)
c.3431T>C (p.Phe1144Ser)
c.3098T>C (p.Phe1033Ser)
c.3179T>C (p.Phe1060Ser)
c.3197T>C (p.Phe1066Ser)
n.3570T>C
n.3794T>C
c.2366T>C (p.Phe789Ser)
c.2141T>C (p.Phe714Ser)
c.3236T>C (p.Phe1079Ser)
c.1209T>C
c.*532T>C (n.*532T>C)
n.4175T>C
n.2776T>C
c.3287T>C (p.Phe1096Ser)
c.3335T>C (p.Phe1112Ser)
c.3395T>C (p.Phe1132Ser)
c.2945T>C (p.Phe982Ser)
c.1247T>C (p.Phe416Ser)
c.1064T>C (p.Phe355Ser)
c.3296T>C (p.Phe1099Ser)
c.3248T>C (p.Phe1083Ser)
c.3017T>C (p.Phe1006Ser)
c.2918T>C (p.Phe973Ser)
c.2099T>C (p.Phe700Ser)
n.3650T>C
13g.51941206A>TCA388026747ATP7Bc.*1081T>A (n.*1081T>A)
c.*2175T>A (n.*2175T>A)
c.2810T>A (p.Phe937Tyr)
c.3431T>A (p.Phe1144Tyr)
c.3098T>A (p.Phe1033Tyr)
c.3179T>A (p.Phe1060Tyr)
c.3197T>A (p.Phe1066Tyr)
n.3570T>A
n.3794T>A
c.2366T>A (p.Phe789Tyr)
c.2141T>A (p.Phe714Tyr)
c.3236T>A (p.Phe1079Tyr)
c.1209T>A
c.*532T>A (n.*532T>A)
n.4175T>A
n.2776T>A
c.3287T>A (p.Phe1096Tyr)
c.3335T>A (p.Phe1112Tyr)
c.3395T>A (p.Phe1132Tyr)
c.2945T>A (p.Phe982Tyr)
c.1247T>A (p.Phe416Tyr)
c.1064T>A (p.Phe355Tyr)
c.3296T>A (p.Phe1099Tyr)
c.3248T>A (p.Phe1083Tyr)
c.3017T>A (p.Phe1006Tyr)
c.2918T>A (p.Phe973Tyr)
c.2099T>A (p.Phe700Tyr)
n.3650T>A
13g.51941207A>CCA388026751ATP7Bc.*1080T>G (n.*1080T>G)
c.*2174T>G (n.*2174T>G)
c.2809T>G (p.Phe937Val)
c.3430T>G (p.Phe1144Val)
c.3097T>G (p.Phe1033Val)
c.3178T>G (p.Phe1060Val)
c.3196T>G (p.Phe1066Val)
n.3569T>G
n.3793T>G
c.2365T>G (p.Phe789Val)
c.2140T>G (p.Phe714Val)
c.3235T>G (p.Phe1079Val)
c.1208T>G
c.*531T>G (n.*531T>G)
n.4174T>G
n.2775T>G
c.3286T>G (p.Phe1096Val)
c.3334T>G (p.Phe1112Val)
c.3394T>G (p.Phe1132Val)
c.2944T>G (p.Phe982Val)
c.1246T>G (p.Phe416Val)
c.1063T>G (p.Phe355Val)
c.3295T>G (p.Phe1099Val)
c.3247T>G (p.Phe1083Val)
c.3016T>G (p.Phe1006Val)
c.2917T>G (p.Phe973Val)
c.2098T>G (p.Phe700Val)
n.3649T>G
13g.51941207A>GCA388026749ATP7Bc.*1080T>C (n.*1080T>C)
c.*2174T>C (n.*2174T>C)
c.2809T>C (p.Phe937Leu)
c.3430T>C (p.Phe1144Leu)
c.3097T>C (p.Phe1033Leu)
c.3178T>C (p.Phe1060Leu)
c.3196T>C (p.Phe1066Leu)
n.3569T>C
n.3793T>C
c.2365T>C (p.Phe789Leu)
c.2140T>C (p.Phe714Leu)
c.3235T>C (p.Phe1079Leu)
c.1208T>C
c.*531T>C (n.*531T>C)
n.4174T>C
n.2775T>C
c.3286T>C (p.Phe1096Leu)
c.3334T>C (p.Phe1112Leu)
c.3394T>C (p.Phe1132Leu)
c.2944T>C (p.Phe982Leu)
c.1246T>C (p.Phe416Leu)
c.1063T>C (p.Phe355Leu)
c.3295T>C (p.Phe1099Leu)
c.3247T>C (p.Phe1083Leu)
c.3016T>C (p.Phe1006Leu)
c.2917T>C (p.Phe973Leu)
c.2098T>C (p.Phe700Leu)
n.3649T>C
13g.51941207A>TCA388026748ATP7Bc.*1080T>A (n.*1080T>A)
c.*2174T>A (n.*2174T>A)
c.2809T>A (p.Phe937Ile)
c.3430T>A (p.Phe1144Ile)
c.3097T>A (p.Phe1033Ile)
c.3178T>A (p.Phe1060Ile)
c.3196T>A (p.Phe1066Ile)
n.3569T>A
n.3793T>A
c.2365T>A (p.Phe789Ile)
c.2140T>A (p.Phe714Ile)
c.3235T>A (p.Phe1079Ile)
c.1208T>A
c.*531T>A (n.*531T>A)
n.4174T>A
n.2775T>A
c.3286T>A (p.Phe1096Ile)
c.3334T>A (p.Phe1112Ile)
c.3394T>A (p.Phe1132Ile)
c.2944T>A (p.Phe982Ile)
c.1246T>A (p.Phe416Ile)
c.1063T>A (p.Phe355Ile)
c.3295T>A (p.Phe1099Ile)
c.3247T>A (p.Phe1083Ile)
c.3016T>A (p.Phe1006Ile)
c.2917T>A (p.Phe973Ile)
c.2098T>A (p.Phe700Ile)
n.3649T>A
13g.51941208G>ACA483894187ATP7Bc.*1079C>T (n.*1079C>T)
c.*2173C>T (n.*2173C>T)
c.2808C>T (p.Thr936=)
c.3429C>T (p.Thr1143=)
c.3096C>T (p.Thr1032=)
c.3177C>T (p.Thr1059=)
c.3195C>T (p.Thr1065=)
n.3568C>T
n.3792C>T
c.2364C>T (p.Thr788=)
c.2139C>T (p.Thr713=)
c.3234C>T (p.Thr1078=)
c.1207C>T
c.*530C>T (n.*530C>T)
n.4173C>T
n.2774C>T
c.3285C>T (p.Thr1095=)
c.3333C>T (p.Thr1111=)
c.3393C>T (p.Thr1131=)
c.2943C>T (p.Thr981=)
c.1245C>T (p.Thr415=)
c.1062C>T (p.Thr354=)
c.3294C>T (p.Thr1098=)
c.3246C>T (p.Thr1082=)
c.3015C>T (p.Thr1005=)
c.2916C>T (p.Thr972=)
c.2097C>T (p.Thr699=)
n.3648C>T
 ClinVar dbSNP
13g.51941208G>CCA483894189ATP7Bc.*1079C>G (n.*1079C>G)
c.*2173C>G (n.*2173C>G)
c.2808C>G (p.Thr936=)
c.3429C>G (p.Thr1143=)
c.3096C>G (p.Thr1032=)
c.3177C>G (p.Thr1059=)
c.3195C>G (p.Thr1065=)
n.3568C>G
n.3792C>G
c.2364C>G (p.Thr788=)
c.2139C>G (p.Thr713=)
c.3234C>G (p.Thr1078=)
c.1207C>G
c.*530C>G (n.*530C>G)
n.4173C>G
n.2774C>G
c.3285C>G (p.Thr1095=)
c.3333C>G (p.Thr1111=)
c.3393C>G (p.Thr1131=)
c.2943C>G (p.Thr981=)
c.1245C>G (p.Thr415=)
c.1062C>G (p.Thr354=)
c.3294C>G (p.Thr1098=)
c.3246C>G (p.Thr1082=)
c.3015C>G (p.Thr1005=)
c.2916C>G (p.Thr972=)
c.2097C>G (p.Thr699=)
n.3648C>G
13g.51941208G>TCA483894191ATP7Bc.*1079C>A (n.*1079C>A)
c.*2173C>A (n.*2173C>A)
c.2808C>A (p.Thr936=)
c.3429C>A (p.Thr1143=)
c.3096C>A (p.Thr1032=)
c.3177C>A (p.Thr1059=)
c.3195C>A (p.Thr1065=)
n.3568C>A
n.3792C>A
c.2364C>A (p.Thr788=)
c.2139C>A (p.Thr713=)
c.3234C>A (p.Thr1078=)
c.1207C>A
c.*530C>A (n.*530C>A)
n.4173C>A
n.2774C>A
c.3285C>A (p.Thr1095=)
c.3333C>A (p.Thr1111=)
c.3393C>A (p.Thr1131=)
c.2943C>A (p.Thr981=)
c.1245C>A (p.Thr415=)
c.1062C>A (p.Thr354=)
c.3294C>A (p.Thr1098=)
c.3246C>A (p.Thr1082=)
c.3015C>A (p.Thr1005=)
c.2916C>A (p.Thr972=)
c.2097C>A (p.Thr699=)
n.3648C>A
13g.51941209G>ACA388026753ATP7Bc.*1078C>T (n.*1078C>T)
c.*2172C>T (n.*2172C>T)
c.2807C>T (p.Thr936Ile)
c.3428C>T (p.Thr1143Ile)
c.3095C>T (p.Thr1032Ile)
c.3176C>T (p.Thr1059Ile)
c.3194C>T (p.Thr1065Ile)
n.3567C>T
n.3791C>T
c.2363C>T (p.Thr788Ile)
c.2138C>T (p.Thr713Ile)
c.3233C>T (p.Thr1078Ile)
c.1206C>T
c.*529C>T (n.*529C>T)
n.4172C>T
n.2773C>T
c.3284C>T (p.Thr1095Ile)
c.3332C>T (p.Thr1111Ile)
c.3392C>T (p.Thr1131Ile)
c.2942C>T (p.Thr981Ile)
c.1244C>T (p.Thr415Ile)
c.1061C>T (p.Thr354Ile)
c.3293C>T (p.Thr1098Ile)
c.3245C>T (p.Thr1082Ile)
c.3014C>T (p.Thr1005Ile)
c.2915C>T (p.Thr972Ile)
c.2096C>T (p.Thr699Ile)
n.3647C>T
13g.51941209G>CCA388026754ATP7Bc.*1078C>G (n.*1078C>G)
c.*2172C>G (n.*2172C>G)
c.2807C>G (p.Thr936Ser)
c.3428C>G (p.Thr1143Ser)
c.3095C>G (p.Thr1032Ser)
c.3176C>G (p.Thr1059Ser)
c.3194C>G (p.Thr1065Ser)
n.3567C>G
n.3791C>G
c.2363C>G (p.Thr788Ser)
c.2138C>G (p.Thr713Ser)
c.3233C>G (p.Thr1078Ser)
c.1206C>G
c.*529C>G (n.*529C>G)
n.4172C>G
n.2773C>G
c.3284C>G (p.Thr1095Ser)
c.3332C>G (p.Thr1111Ser)
c.3392C>G (p.Thr1131Ser)
c.2942C>G (p.Thr981Ser)
c.1244C>G (p.Thr415Ser)
c.1061C>G (p.Thr354Ser)
c.3293C>G (p.Thr1098Ser)
c.3245C>G (p.Thr1082Ser)
c.3014C>G (p.Thr1005Ser)
c.2915C>G (p.Thr972Ser)
c.2096C>G (p.Thr699Ser)
n.3647C>G
13g.51941209G=CA2091559594ATP7Bc.*1078C= (n.*1078C=)
c.*2172C= (n.*2172C=)
c.2807C= (p.Thr936=)
c.3428C= (p.Thr1143=)
c.3095C= (p.Thr1032=)
c.3176C= (p.Thr1059=)
c.3194C= (p.Thr1065=)
n.3567C=
n.3791C=
c.2363C= (p.Thr788=)
c.2138C= (p.Thr713=)
c.3233C= (p.Thr1078=)
c.1206C=
c.*529C= (n.*529C=)
n.4172C=
n.2773C=
c.3284C= (p.Thr1095=)
c.3332C= (p.Thr1111=)
c.3392C= (p.Thr1131=)
c.2942C= (p.Thr981=)
c.1244C= (p.Thr415=)
c.1061C= (p.Thr354=)
c.3293C= (p.Thr1098=)
c.3245C= (p.Thr1082=)
c.3014C= (p.Thr1005=)
c.2915C= (p.Thr972=)
c.2096C= (p.Thr699=)
n.3647C=
13g.51941209G>TCA171317ATP7Bc.*1078C>A (n.*1078C>A)
c.*2172C>A (n.*2172C>A)
c.2807C>A (p.Thr936Asn)
c.3428C>A (p.Thr1143Asn)
c.3095C>A (p.Thr1032Asn)
c.3176C>A (p.Thr1059Asn)
c.3194C>A (p.Thr1065Asn)
n.3567C>A
n.3791C>A
c.2363C>A (p.Thr788Asn)
c.2138C>A (p.Thr713Asn)
c.3233C>A (p.Thr1078Asn)
c.1206C>A
c.*529C>A (n.*529C>A)
n.4172C>A
n.2773C>A
c.3284C>A (p.Thr1095Asn)
c.3332C>A (p.Thr1111Asn)
c.3392C>A (p.Thr1131Asn)
c.2942C>A (p.Thr981Asn)
c.1244C>A (p.Thr415Asn)
c.1061C>A (p.Thr354Asn)
c.3293C>A (p.Thr1098Asn)
c.3245C>A (p.Thr1082Asn)
c.3014C>A (p.Thr1005Asn)
c.2915C>A (p.Thr972Asn)
c.2096C>A (p.Thr699Asn)
n.3647C>A
 ClinVar dbSNP
13g.51941210T>ACA388026755ATP7Bc.*1077A>T (n.*1077A>T)
c.*2171A>T (n.*2171A>T)
c.2806A>T (p.Thr936Ser)
c.3427A>T (p.Thr1143Ser)
c.3094A>T (p.Thr1032Ser)
c.3175A>T (p.Thr1059Ser)
c.3193A>T (p.Thr1065Ser)
n.3566A>T
n.3790A>T
c.2362A>T (p.Thr788Ser)
c.2137A>T (p.Thr713Ser)
c.3232A>T (p.Thr1078Ser)
c.1205A>T
c.*528A>T (n.*528A>T)
n.4171A>T
n.2772A>T
c.3283A>T (p.Thr1095Ser)
c.3331A>T (p.Thr1111Ser)
c.3391A>T (p.Thr1131Ser)
c.2941A>T (p.Thr981Ser)
c.1243A>T (p.Thr415Ser)
c.1060A>T (p.Thr354Ser)
c.3292A>T (p.Thr1098Ser)
c.3244A>T (p.Thr1082Ser)
c.3013A>T (p.Thr1005Ser)
c.2914A>T (p.Thr972Ser)
c.2095A>T (p.Thr699Ser)
n.3646A>T
 dbSNP gnomAD v2 gnomAD v4
13g.51941210T>CCA388026757ATP7Bc.*1077A>G (n.*1077A>G)
c.*2171A>G (n.*2171A>G)
c.2806A>G (p.Thr936Ala)
c.3427A>G (p.Thr1143Ala)
c.3094A>G (p.Thr1032Ala)
c.3175A>G (p.Thr1059Ala)
c.3193A>G (p.Thr1065Ala)
n.3566A>G
n.3790A>G
c.2362A>G (p.Thr788Ala)
c.2137A>G (p.Thr713Ala)
c.3232A>G (p.Thr1078Ala)
c.1205A>G
c.*528A>G (n.*528A>G)
n.4171A>G
n.2772A>G
c.3283A>G (p.Thr1095Ala)
c.3331A>G (p.Thr1111Ala)
c.3391A>G (p.Thr1131Ala)
c.2941A>G (p.Thr981Ala)
c.1243A>G (p.Thr415Ala)
c.1060A>G (p.Thr354Ala)
c.3292A>G (p.Thr1098Ala)
c.3244A>G (p.Thr1082Ala)
c.3013A>G (p.Thr1005Ala)
c.2914A>G (p.Thr972Ala)
c.2095A>G (p.Thr699Ala)
n.3646A>G
13g.51941210T>GCA388026762ATP7Bc.*1077A>C (n.*1077A>C)
c.*2171A>C (n.*2171A>C)
c.2806A>C (p.Thr936Pro)
c.3427A>C (p.Thr1143Pro)
c.3094A>C (p.Thr1032Pro)
c.3175A>C (p.Thr1059Pro)
c.3193A>C (p.Thr1065Pro)
n.3566A>C
n.3790A>C
c.2362A>C (p.Thr788Pro)
c.2137A>C (p.Thr713Pro)
c.3232A>C (p.Thr1078Pro)
c.1205A>C
c.*528A>C (n.*528A>C)
n.4171A>C
n.2772A>C
c.3283A>C (p.Thr1095Pro)
c.3331A>C (p.Thr1111Pro)
c.3391A>C (p.Thr1131Pro)
c.2941A>C (p.Thr981Pro)
c.1243A>C (p.Thr415Pro)
c.1060A>C (p.Thr354Pro)
c.3292A>C (p.Thr1098Pro)
c.3244A>C (p.Thr1082Pro)
c.3013A>C (p.Thr1005Pro)
c.2914A>C (p.Thr972Pro)
c.2095A>C (p.Thr699Pro)
n.3646A>C
13g.51941210T=CA2091559598ATP7Bc.*1077A= (n.*1077A=)
c.*2171A= (n.*2171A=)
c.2806A= (p.Thr936=)
c.3427A= (p.Thr1143=)
c.3094A= (p.Thr1032=)
c.3175A= (p.Thr1059=)
c.3193A= (p.Thr1065=)
n.3566A=
n.3790A=
c.2362A= (p.Thr788=)
c.2137A= (p.Thr713=)
c.3232A= (p.Thr1078=)
c.1205A=
c.*528A= (n.*528A=)
n.4171A=
n.2772A=
c.3283A= (p.Thr1095=)
c.3331A= (p.Thr1111=)
c.3391A= (p.Thr1131=)
c.2941A= (p.Thr981=)
c.1243A= (p.Thr415=)
c.1060A= (p.Thr354=)
c.3292A= (p.Thr1098=)
c.3244A= (p.Thr1082=)
c.3013A= (p.Thr1005=)
c.2914A= (p.Thr972=)
c.2095A= (p.Thr699=)
n.3646A=
13g.51941211C>ACA250077293ATP7Bc.*1076G>T (n.*1076G>T)
c.*2170G>T (n.*2170G>T)
c.2805G>T (p.Gln935His)
c.3426G>T (p.Gln1142His)
c.3093G>T (p.Gln1031His)
c.3174G>T (p.Gln1058His)
c.3192G>T (p.Gln1064His)
n.3565G>T
n.3789G>T
c.2361G>T (p.Gln787His)
c.2136G>T (p.Gln712His)
c.3231G>T (p.Gln1077His)
c.1204G>T
c.*527G>T (n.*527G>T)
n.4170G>T
n.2771G>T
c.3282G>T (p.Gln1094His)
c.3330G>T (p.Gln1110His)
c.3390G>T (p.Gln1130His)
c.2940G>T (p.Gln980His)
c.1242G>T (p.Gln414His)
c.1059G>T (p.Gln353His)
c.3291G>T (p.Gln1097His)
c.3243G>T (p.Gln1081His)
c.3012G>T (p.Gln1004His)
c.2913G>T (p.Gln971His)
c.2094G>T (p.Gln698His)
n.3645G>T
 dbSNP gnomAD v3 gnomAD v4
13g.51941211C=CA2091559603ATP7Bc.*1076G= (n.*1076G=)
c.*2170G= (n.*2170G=)
c.2805G= (p.Gln935=)
c.3426G= (p.Gln1142=)
c.3093G= (p.Gln1031=)
c.3174G= (p.Gln1058=)
c.3192G= (p.Gln1064=)
n.3565G=
n.3789G=
c.2361G= (p.Gln787=)
c.2136G= (p.Gln712=)
c.3231G= (p.Gln1077=)
c.1204G=
c.*527G= (n.*527G=)
n.4170G=
n.2771G=
c.3282G= (p.Gln1094=)
c.3330G= (p.Gln1110=)
c.3390G= (p.Gln1130=)
c.2940G= (p.Gln980=)
c.1242G= (p.Gln414=)
c.1059G= (p.Gln353=)
c.3291G= (p.Gln1097=)
c.3243G= (p.Gln1081=)
c.3012G= (p.Gln1004=)
c.2913G= (p.Gln971=)
c.2094G= (p.Gln698=)
n.3645G=
13g.51941211C>GCA6988685ATP7Bc.*1076G>C (n.*1076G>C)
c.*2170G>C (n.*2170G>C)
c.2805G>C (p.Gln935His)
c.3426G>C (p.Gln1142His)
c.3093G>C (p.Gln1031His)
c.3174G>C (p.Gln1058His)
c.3192G>C (p.Gln1064His)
n.3565G>C
n.3789G>C
c.2361G>C (p.Gln787His)
c.2136G>C (p.Gln712His)
c.3231G>C (p.Gln1077His)
c.1204G>C
c.*527G>C (n.*527G>C)
n.4170G>C
n.2771G>C
c.3282G>C (p.Gln1094His)
c.3330G>C (p.Gln1110His)
c.3390G>C (p.Gln1130His)
c.2940G>C (p.Gln980His)
c.1242G>C (p.Gln414His)
c.1059G>C (p.Gln353His)
c.3291G>C (p.Gln1097His)
c.3243G>C (p.Gln1081His)
c.3012G>C (p.Gln1004His)
c.2913G>C (p.Gln971His)
c.2094G>C (p.Gln698His)
n.3645G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941211C>TCA483894199ATP7Bc.*1076G>A (n.*1076G>A)
c.*2170G>A (n.*2170G>A)
c.2805G>A (p.Gln935=)
c.3426G>A (p.Gln1142=)
c.3093G>A (p.Gln1031=)
c.3174G>A (p.Gln1058=)
c.3192G>A (p.Gln1064=)
n.3565G>A
n.3789G>A
c.2361G>A (p.Gln787=)
c.2136G>A (p.Gln712=)
c.3231G>A (p.Gln1077=)
c.1204G>A
c.*527G>A (n.*527G>A)
n.4170G>A
n.2771G>A
c.3282G>A (p.Gln1094=)
c.3330G>A (p.Gln1110=)
c.3390G>A (p.Gln1130=)
c.2940G>A (p.Gln980=)
c.1242G>A (p.Gln414=)
c.1059G>A (p.Gln353=)
c.3291G>A (p.Gln1097=)
c.3243G>A (p.Gln1081=)
c.3012G>A (p.Gln1004=)
c.2913G>A (p.Gln971=)
c.2094G>A (p.Gln698=)
n.3645G>A
13g.51941212T>ACA388026776ATP7Bc.*1075A>T (n.*1075A>T)
c.*2169A>T (n.*2169A>T)
c.2804A>T (p.Gln935Leu)
c.3425A>T (p.Gln1142Leu)
c.3092A>T (p.Gln1031Leu)
c.3173A>T (p.Gln1058Leu)
c.3191A>T (p.Gln1064Leu)
n.3564A>T
n.3788A>T
c.2360A>T (p.Gln787Leu)
c.2135A>T (p.Gln712Leu)
c.3230A>T (p.Gln1077Leu)
c.1203A>T
c.*526A>T (n.*526A>T)
n.4169A>T
n.2770A>T
c.3281A>T (p.Gln1094Leu)
c.3329A>T (p.Gln1110Leu)
c.3389A>T (p.Gln1130Leu)
c.2939A>T (p.Gln980Leu)
c.1241A>T (p.Gln414Leu)
c.1058A>T (p.Gln353Leu)
c.3290A>T (p.Gln1097Leu)
c.3242A>T (p.Gln1081Leu)
c.3011A>T (p.Gln1004Leu)
c.2912A>T (p.Gln971Leu)
c.2093A>T (p.Gln698Leu)
n.3644A>T
13g.51941212T>CCA388026777ATP7Bc.*1075A>G (n.*1075A>G)
c.*2169A>G (n.*2169A>G)
c.2804A>G (p.Gln935Arg)
c.3425A>G (p.Gln1142Arg)
c.3092A>G (p.Gln1031Arg)
c.3173A>G (p.Gln1058Arg)
c.3191A>G (p.Gln1064Arg)
n.3564A>G
n.3788A>G
c.2360A>G (p.Gln787Arg)
c.2135A>G (p.Gln712Arg)
c.3230A>G (p.Gln1077Arg)
c.1203A>G
c.*526A>G (n.*526A>G)
n.4169A>G
n.2770A>G
c.3281A>G (p.Gln1094Arg)
c.3329A>G (p.Gln1110Arg)
c.3389A>G (p.Gln1130Arg)
c.2939A>G (p.Gln980Arg)
c.1241A>G (p.Gln414Arg)
c.1058A>G (p.Gln353Arg)
c.3290A>G (p.Gln1097Arg)
c.3242A>G (p.Gln1081Arg)
c.3011A>G (p.Gln1004Arg)
c.2912A>G (p.Gln971Arg)
c.2093A>G (p.Gln698Arg)
n.3644A>G
13g.51941212T>GCA388026778ATP7Bc.*1075A>C (n.*1075A>C)
c.*2169A>C (n.*2169A>C)
c.2804A>C (p.Gln935Pro)
c.3425A>C (p.Gln1142Pro)
c.3092A>C (p.Gln1031Pro)
c.3173A>C (p.Gln1058Pro)
c.3191A>C (p.Gln1064Pro)
n.3564A>C
n.3788A>C
c.2360A>C (p.Gln787Pro)
c.2135A>C (p.Gln712Pro)
c.3230A>C (p.Gln1077Pro)
c.1203A>C
c.*526A>C (n.*526A>C)
n.4169A>C
n.2770A>C
c.3281A>C (p.Gln1094Pro)
c.3329A>C (p.Gln1110Pro)
c.3389A>C (p.Gln1130Pro)
c.2939A>C (p.Gln980Pro)
c.1241A>C (p.Gln414Pro)
c.1058A>C (p.Gln353Pro)
c.3290A>C (p.Gln1097Pro)
c.3242A>C (p.Gln1081Pro)
c.3011A>C (p.Gln1004Pro)
c.2912A>C (p.Gln971Pro)
c.2093A>C (p.Gln698Pro)
n.3644A>C
13g.51941212T=CA2091559606ATP7Bc.*1075A= (n.*1075A=)
c.*2169A= (n.*2169A=)
c.2804A= (p.Gln935=)
c.3425A= (p.Gln1142=)
c.3092A= (p.Gln1031=)
c.3173A= (p.Gln1058=)
c.3191A= (p.Gln1064=)
n.3564A=
n.3788A=
c.2360A= (p.Gln787=)
c.2135A= (p.Gln712=)
c.3230A= (p.Gln1077=)
c.1203A=
c.*526A= (n.*526A=)
n.4169A=
n.2770A=
c.3281A= (p.Gln1094=)
c.3329A= (p.Gln1110=)
c.3389A= (p.Gln1130=)
c.2939A= (p.Gln980=)
c.1241A= (p.Gln414=)
c.1058A= (p.Gln353=)
c.3290A= (p.Gln1097=)
c.3242A= (p.Gln1081=)
c.3011A= (p.Gln1004=)
c.2912A= (p.Gln971=)
c.2093A= (p.Gln698=)
n.3644A=
13g.51941213G>ACA6988686ATP7Bc.*1074C>T (n.*1074C>T)
c.*2168C>T (n.*2168C>T)
c.2803C>T (p.Gln935Ter)
c.3424C>T (p.Gln1142Ter)
c.3091C>T (p.Gln1031Ter)
c.3172C>T (p.Gln1058Ter)
c.3190C>T (p.Gln1064Ter)
n.3563C>T
n.3787C>T
c.2359C>T (p.Gln787Ter)
c.2134C>T (p.Gln712Ter)
c.3229C>T (p.Gln1077Ter)
c.1202C>T
c.*525C>T (n.*525C>T)
n.4168C>T
n.2769C>T
c.3280C>T (p.Gln1094Ter)
c.3328C>T (p.Gln1110Ter)
c.3388C>T (p.Gln1130Ter)
c.2938C>T (p.Gln980Ter)
c.1240C>T (p.Gln414Ter)
c.1057C>T (p.Gln353Ter)
c.3289C>T (p.Gln1097Ter)
c.3241C>T (p.Gln1081Ter)
c.3010C>T (p.Gln1004Ter)
c.2911C>T (p.Gln971Ter)
c.2092C>T (p.Gln698Ter)
n.3643C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941213G>CCA388026781ATP7Bc.*1074C>G (n.*1074C>G)
c.*2168C>G (n.*2168C>G)
c.2803C>G (p.Gln935Glu)
c.3424C>G (p.Gln1142Glu)
c.3091C>G (p.Gln1031Glu)
c.3172C>G (p.Gln1058Glu)
c.3190C>G (p.Gln1064Glu)
n.3563C>G
n.3787C>G
c.2359C>G (p.Gln787Glu)
c.2134C>G (p.Gln712Glu)
c.3229C>G (p.Gln1077Glu)
c.1202C>G
c.*525C>G (n.*525C>G)
n.4168C>G
n.2769C>G
c.3280C>G (p.Gln1094Glu)
c.3328C>G (p.Gln1110Glu)
c.3388C>G (p.Gln1130Glu)
c.2938C>G (p.Gln980Glu)
c.1240C>G (p.Gln414Glu)
c.1057C>G (p.Gln353Glu)
c.3289C>G (p.Gln1097Glu)
c.3241C>G (p.Gln1081Glu)
c.3010C>G (p.Gln1004Glu)
c.2911C>G (p.Gln971Glu)
c.2092C>G (p.Gln698Glu)
n.3643C>G
13g.51941213G=CA2091559609ATP7Bc.*1074C= (n.*1074C=)
c.*2168C= (n.*2168C=)
c.2803C= (p.Gln935=)
c.3424C= (p.Gln1142=)
c.3091C= (p.Gln1031=)
c.3172C= (p.Gln1058=)
c.3190C= (p.Gln1064=)
n.3563C=
n.3787C=
c.2359C= (p.Gln787=)
c.2134C= (p.Gln712=)
c.3229C= (p.Gln1077=)
c.1202C=
c.*525C= (n.*525C=)
n.4168C=
n.2769C=
c.3280C= (p.Gln1094=)
c.3328C= (p.Gln1110=)
c.3388C= (p.Gln1130=)
c.2938C= (p.Gln980=)
c.1240C= (p.Gln414=)
c.1057C= (p.Gln353=)
c.3289C= (p.Gln1097=)
c.3241C= (p.Gln1081=)
c.3010C= (p.Gln1004=)
c.2911C= (p.Gln971=)
c.2092C= (p.Gln698=)
n.3643C=
13g.51941213G>TCA388026779ATP7Bc.*1074C>A (n.*1074C>A)
c.*2168C>A (n.*2168C>A)
c.2803C>A (p.Gln935Lys)
c.3424C>A (p.Gln1142Lys)
c.3091C>A (p.Gln1031Lys)
c.3172C>A (p.Gln1058Lys)
c.3190C>A (p.Gln1064Lys)
n.3563C>A
n.3787C>A
c.2359C>A (p.Gln787Lys)
c.2134C>A (p.Gln712Lys)
c.3229C>A (p.Gln1077Lys)
c.1202C>A
c.*525C>A (n.*525C>A)
n.4168C>A
n.2769C>A
c.3280C>A (p.Gln1094Lys)
c.3328C>A (p.Gln1110Lys)
c.3388C>A (p.Gln1130Lys)
c.2938C>A (p.Gln980Lys)
c.1240C>A (p.Gln414Lys)
c.1057C>A (p.Gln353Lys)
c.3289C>A (p.Gln1097Lys)
c.3241C>A (p.Gln1081Lys)
c.3010C>A (p.Gln1004Lys)
c.2911C>A (p.Gln971Lys)
c.2092C>A (p.Gln698Lys)
n.3643C>A
13g.51941217dupCA250077296ATP7Bc.*1074dup (n.*1074dup)
c.*2168dup (n.*2168dup)
c.2803dup (p.Gln935ProfsTer11)
c.3424dup (p.Gln1142ProfsTer11)
c.3091dup (p.Gln1031ProfsTer11)
c.3172dup (p.Gln1058ProfsTer11)
c.3190dup (p.Gln1064ProfsTer11)
n.3563dup
n.3787dup
c.2359dup (p.Gln787ProfsTer11)
c.2134dup (p.Gln712ProfsTer11)
c.3229dup (p.Gln1077ProfsTer11)
c.1202dup
c.*525dup (n.*525dup)
n.4168dup
n.2769dup
c.3280dup (p.Gln1094ProfsTer11)
c.3328dup (p.Gln1110ProfsTer11)
c.3388dup (p.Gln1130ProfsTer11)
c.2938dup (p.Gln980ProfsTer11)
c.1240dup (p.Gln414ProfsTer11)
c.1057dup (p.Gln353ProfsTer11)
c.3289dup (p.Gln1097ProfsTer11)
c.3241dup (p.Gln1081ProfsTer11)
c.3010dup (p.Gln1004ProfsTer11)
c.2911dup (p.Gln971ProfsTer11)
c.2092dup (p.Gln698ProfsTer11)
n.3643dup
 dbSNP gnomAD v2 gnomAD v4
13g.51941214G>ACA483894216ATP7Bc.*1073C>T (n.*1073C>T)
c.*2167C>T (n.*2167C>T)
c.2802C>T (p.Pro934=)
c.3423C>T (p.Pro1141=)
c.3090C>T (p.Pro1030=)
c.3171C>T (p.Pro1057=)
c.3189C>T (p.Pro1063=)
n.3562C>T
n.3786C>T
c.2358C>T (p.Pro786=)
c.2133C>T (p.Pro711=)
c.3228C>T (p.Pro1076=)
c.1201C>T
c.*524C>T (n.*524C>T)
n.4167C>T
n.2768C>T
c.3279C>T (p.Pro1093=)
c.3327C>T (p.Pro1109=)
c.3387C>T (p.Pro1129=)
c.2937C>T (p.Pro979=)
c.1239C>T (p.Pro413=)
c.1056C>T (p.Pro352=)
c.3288C>T (p.Pro1096=)
c.3240C>T (p.Pro1080=)
c.3009C>T (p.Pro1003=)
c.2910C>T (p.Pro970=)
c.2091C>T (p.Pro697=)
n.3642C>T
13g.51941214G>CCA483894214ATP7Bc.*1073C>G (n.*1073C>G)
c.*2167C>G (n.*2167C>G)
c.2802C>G (p.Pro934=)
c.3423C>G (p.Pro1141=)
c.3090C>G (p.Pro1030=)
c.3171C>G (p.Pro1057=)
c.3189C>G (p.Pro1063=)
n.3562C>G
n.3786C>G
c.2358C>G (p.Pro786=)
c.2133C>G (p.Pro711=)
c.3228C>G (p.Pro1076=)
c.1201C>G
c.*524C>G (n.*524C>G)
n.4167C>G
n.2768C>G
c.3279C>G (p.Pro1093=)
c.3327C>G (p.Pro1109=)
c.3387C>G (p.Pro1129=)
c.2937C>G (p.Pro979=)
c.1239C>G (p.Pro413=)
c.1056C>G (p.Pro352=)
c.3288C>G (p.Pro1096=)
c.3240C>G (p.Pro1080=)
c.3009C>G (p.Pro1003=)
c.2910C>G (p.Pro970=)
c.2091C>G (p.Pro697=)
n.3642C>G
 ClinVar
13g.51941214G>TCA483894213ATP7Bc.*1073C>A (n.*1073C>A)
c.*2167C>A (n.*2167C>A)
c.2802C>A (p.Pro934=)
c.3423C>A (p.Pro1141=)
c.3090C>A (p.Pro1030=)
c.3171C>A (p.Pro1057=)
c.3189C>A (p.Pro1063=)
n.3562C>A
n.3786C>A
c.2358C>A (p.Pro786=)
c.2133C>A (p.Pro711=)
c.3228C>A (p.Pro1076=)
c.1201C>A
c.*524C>A (n.*524C>A)
n.4167C>A
n.2768C>A
c.3279C>A (p.Pro1093=)
c.3327C>A (p.Pro1109=)
c.3387C>A (p.Pro1129=)
c.2937C>A (p.Pro979=)
c.1239C>A (p.Pro413=)
c.1056C>A (p.Pro352=)
c.3288C>A (p.Pro1096=)
c.3240C>A (p.Pro1080=)
c.3009C>A (p.Pro1003=)
c.2910C>A (p.Pro970=)
c.2091C>A (p.Pro697=)
n.3642C>A
 gnomAD v4
13g.51941215G>ACA388026789ATP7Bc.*1072C>T (n.*1072C>T)
c.*2166C>T (n.*2166C>T)
c.2801C>T (p.Pro934Leu)
c.3422C>T (p.Pro1141Leu)
c.3089C>T (p.Pro1030Leu)
c.3170C>T (p.Pro1057Leu)
c.3188C>T (p.Pro1063Leu)
n.3561C>T
n.3785C>T
c.2357C>T (p.Pro786Leu)
c.2132C>T (p.Pro711Leu)
c.3227C>T (p.Pro1076Leu)
c.1200C>T
c.*523C>T (n.*523C>T)
n.4166C>T
n.2767C>T
c.3278C>T (p.Pro1093Leu)
c.3326C>T (p.Pro1109Leu)
c.3386C>T (p.Pro1129Leu)
c.2936C>T (p.Pro979Leu)
c.1238C>T (p.Pro413Leu)
c.1055C>T (p.Pro352Leu)
c.3287C>T (p.Pro1096Leu)
c.3239C>T (p.Pro1080Leu)
c.3008C>T (p.Pro1003Leu)
c.2909C>T (p.Pro970Leu)
c.2090C>T (p.Pro697Leu)
n.3641C>T
 COSMIC
13g.51941215G>CCA6988687ATP7Bc.*1072C>G (n.*1072C>G)
c.*2166C>G (n.*2166C>G)
c.2801C>G (p.Pro934Arg)
c.3422C>G (p.Pro1141Arg)
c.3089C>G (p.Pro1030Arg)
c.3170C>G (p.Pro1057Arg)
c.3188C>G (p.Pro1063Arg)
n.3561C>G
n.3785C>G
c.2357C>G (p.Pro786Arg)
c.2132C>G (p.Pro711Arg)
c.3227C>G (p.Pro1076Arg)
c.1200C>G
c.*523C>G (n.*523C>G)
n.4166C>G
n.2767C>G
c.3278C>G (p.Pro1093Arg)
c.3326C>G (p.Pro1109Arg)
c.3386C>G (p.Pro1129Arg)
c.2936C>G (p.Pro979Arg)
c.1238C>G (p.Pro413Arg)
c.1055C>G (p.Pro352Arg)
c.3287C>G (p.Pro1096Arg)
c.3239C>G (p.Pro1080Arg)
c.3008C>G (p.Pro1003Arg)
c.2909C>G (p.Pro970Arg)
c.2090C>G (p.Pro697Arg)
n.3641C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51941215G=CA2091559612ATP7Bc.*1072C= (n.*1072C=)
c.*2166C= (n.*2166C=)
c.2801C= (p.Pro934=)
c.3422C= (p.Pro1141=)
c.3089C= (p.Pro1030=)
c.3170C= (p.Pro1057=)
c.3188C= (p.Pro1063=)
n.3561C=
n.3785C=
c.2357C= (p.Pro786=)
c.2132C= (p.Pro711=)
c.3227C= (p.Pro1076=)
c.1200C=
c.*523C= (n.*523C=)
n.4166C=
n.2767C=
c.3278C= (p.Pro1093=)
c.3326C= (p.Pro1109=)
c.3386C= (p.Pro1129=)
c.2936C= (p.Pro979=)
c.1238C= (p.Pro413=)
c.1055C= (p.Pro352=)
c.3287C= (p.Pro1096=)
c.3239C= (p.Pro1080=)
c.3008C= (p.Pro1003=)
c.2909C= (p.Pro970=)
c.2090C= (p.Pro697=)
n.3641C=
13g.51941215G>TCA388026791ATP7Bc.*1072C>A (n.*1072C>A)
c.*2166C>A (n.*2166C>A)
c.2801C>A (p.Pro934His)
c.3422C>A (p.Pro1141His)
c.3089C>A (p.Pro1030His)
c.3170C>A (p.Pro1057His)
c.3188C>A (p.Pro1063His)
n.3561C>A
n.3785C>A
c.2357C>A (p.Pro786His)
c.2132C>A (p.Pro711His)
c.3227C>A (p.Pro1076His)
c.1200C>A
c.*523C>A (n.*523C>A)
n.4166C>A
n.2767C>A
c.3278C>A (p.Pro1093His)
c.3326C>A (p.Pro1109His)
c.3386C>A (p.Pro1129His)
c.2936C>A (p.Pro979His)
c.1238C>A (p.Pro413His)
c.1055C>A (p.Pro352His)
c.3287C>A (p.Pro1096His)
c.3239C>A (p.Pro1080His)
c.3008C>A (p.Pro1003His)
c.2909C>A (p.Pro970His)
c.2090C>A (p.Pro697His)
n.3641C>A
13g.51941216G>ACA388026792ATP7Bc.*1071C>T (n.*1071C>T)
c.*2165C>T (n.*2165C>T)
c.2800C>T (p.Pro934Ser)
c.3421C>T (p.Pro1141Ser)
c.3088C>T (p.Pro1030Ser)
c.3169C>T (p.Pro1057Ser)
c.3187C>T (p.Pro1063Ser)
n.3560C>T
n.3784C>T
c.2356C>T (p.Pro786Ser)
c.2131C>T (p.Pro711Ser)
c.3226C>T (p.Pro1076Ser)
c.1199C>T
c.*522C>T (n.*522C>T)
n.4165C>T
n.2766C>T
c.3277C>T (p.Pro1093Ser)
c.3325C>T (p.Pro1109Ser)
c.3385C>T (p.Pro1129Ser)
c.2935C>T (p.Pro979Ser)
c.1237C>T (p.Pro413Ser)
c.1054C>T (p.Pro352Ser)
c.3286C>T (p.Pro1096Ser)
c.3238C>T (p.Pro1080Ser)
c.3007C>T (p.Pro1003Ser)
c.2908C>T (p.Pro970Ser)
c.2089C>T (p.Pro697Ser)
n.3640C>T
13g.51941216G>CCA388026794ATP7Bc.*1071C>G (n.*1071C>G)
c.*2165C>G (n.*2165C>G)
c.2800C>G (p.Pro934Ala)
c.3421C>G (p.Pro1141Ala)
c.3088C>G (p.Pro1030Ala)
c.3169C>G (p.Pro1057Ala)
c.3187C>G (p.Pro1063Ala)
n.3560C>G
n.3784C>G
c.2356C>G (p.Pro786Ala)
c.2131C>G (p.Pro711Ala)
c.3226C>G (p.Pro1076Ala)
c.1199C>G
c.*522C>G (n.*522C>G)
n.4165C>G
n.2766C>G
c.3277C>G (p.Pro1093Ala)
c.3325C>G (p.Pro1109Ala)
c.3385C>G (p.Pro1129Ala)
c.2935C>G (p.Pro979Ala)
c.1237C>G (p.Pro413Ala)
c.1054C>G (p.Pro352Ala)
c.3286C>G (p.Pro1096Ala)
c.3238C>G (p.Pro1080Ala)
c.3007C>G (p.Pro1003Ala)
c.2908C>G (p.Pro970Ala)
c.2089C>G (p.Pro697Ala)
n.3640C>G
 dbSNP gnomAD v3 gnomAD v4
13g.51941216G=CA2091559615ATP7Bc.*1071C= (n.*1071C=)
c.*2165C= (n.*2165C=)
c.2800C= (p.Pro934=)
c.3421C= (p.Pro1141=)
c.3088C= (p.Pro1030=)
c.3169C= (p.Pro1057=)
c.3187C= (p.Pro1063=)
n.3560C=
n.3784C=
c.2356C= (p.Pro786=)
c.2131C= (p.Pro711=)
c.3226C= (p.Pro1076=)
c.1199C=
c.*522C= (n.*522C=)
n.4165C=
n.2766C=
c.3277C= (p.Pro1093=)
c.3325C= (p.Pro1109=)
c.3385C= (p.Pro1129=)
c.2935C= (p.Pro979=)
c.1237C= (p.Pro413=)
c.1054C= (p.Pro352=)
c.3286C= (p.Pro1096=)
c.3238C= (p.Pro1080=)
c.3007C= (p.Pro1003=)
c.2908C= (p.Pro970=)
c.2089C= (p.Pro697=)
n.3640C=
13g.51941216G>TCA388026796ATP7Bc.*1071C>A (n.*1071C>A)
c.*2165C>A (n.*2165C>A)
c.2800C>A (p.Pro934Thr)
c.3421C>A (p.Pro1141Thr)
c.3088C>A (p.Pro1030Thr)
c.3169C>A (p.Pro1057Thr)
c.3187C>A (p.Pro1063Thr)
n.3560C>A
n.3784C>A
c.2356C>A (p.Pro786Thr)
c.2131C>A (p.Pro711Thr)
c.3226C>A (p.Pro1076Thr)
c.1199C>A
c.*522C>A (n.*522C>A)
n.4165C>A
n.2766C>A
c.3277C>A (p.Pro1093Thr)
c.3325C>A (p.Pro1109Thr)
c.3385C>A (p.Pro1129Thr)
c.2935C>A (p.Pro979Thr)
c.1237C>A (p.Pro413Thr)
c.1054C>A (p.Pro352Thr)
c.3286C>A (p.Pro1096Thr)
c.3238C>A (p.Pro1080Thr)
c.3007C>A (p.Pro1003Thr)
c.2908C>A (p.Pro970Thr)
c.2089C>A (p.Pro697Thr)
n.3640C>A
13g.51941217G>ACA6988688ATP7Bc.*1070C>T (n.*1070C>T)
c.*2164C>T (n.*2164C>T)
c.2799C>T (p.Val933=)
c.3420C>T (p.Val1140=)
c.3087C>T (p.Val1029=)
c.3168C>T (p.Val1056=)
c.3186C>T (p.Val1062=)
n.3559C>T
n.3783C>T
c.2355C>T (p.Val785=)
c.2130C>T (p.Val710=)
c.3225C>T (p.Val1075=)
c.1198C>T
c.*521C>T (n.*521C>T)
n.4164C>T
n.2765C>T
c.3276C>T (p.Val1092=)
c.3324C>T (p.Val1108=)
c.3384C>T (p.Val1128=)
c.2934C>T (p.Val978=)
c.1236C>T (p.Val412=)
c.1053C>T (p.Val351=)
c.3285C>T (p.Val1095=)
c.3237C>T (p.Val1079=)
c.3006C>T (p.Val1002=)
c.2907C>T (p.Val969=)
c.2088C>T (p.Val696=)
n.3639C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51941217G>CCA483894228ATP7Bc.*1070C>G (n.*1070C>G)
c.*2164C>G (n.*2164C>G)
c.2799C>G (p.Val933=)
c.3420C>G (p.Val1140=)
c.3087C>G (p.Val1029=)
c.3168C>G (p.Val1056=)
c.3186C>G (p.Val1062=)
n.3559C>G
n.3783C>G
c.2355C>G (p.Val785=)
c.2130C>G (p.Val710=)
c.3225C>G (p.Val1075=)
c.1198C>G
c.*521C>G (n.*521C>G)
n.4164C>G
n.2765C>G
c.3276C>G (p.Val1092=)
c.3324C>G (p.Val1108=)
c.3384C>G (p.Val1128=)
c.2934C>G (p.Val978=)
c.1236C>G (p.Val412=)
c.1053C>G (p.Val351=)
c.3285C>G (p.Val1095=)
c.3237C>G (p.Val1079=)
c.3006C>G (p.Val1002=)
c.2907C>G (p.Val969=)
c.2088C>G (p.Val696=)
n.3639C>G
13g.51941217G=CA2091559618ATP7Bc.*1070C= (n.*1070C=)
c.*2164C= (n.*2164C=)
c.2799C= (p.Val933=)
c.3420C= (p.Val1140=)
c.3087C= (p.Val1029=)
c.3168C= (p.Val1056=)
c.3186C= (p.Val1062=)
n.3559C=
n.3783C=
c.2355C= (p.Val785=)
c.2130C= (p.Val710=)
c.3225C= (p.Val1075=)
c.1198C=
c.*521C= (n.*521C=)
n.4164C=
n.2765C=
c.3276C= (p.Val1092=)
c.3324C= (p.Val1108=)
c.3384C= (p.Val1128=)
c.2934C= (p.Val978=)
c.1236C= (p.Val412=)
c.1053C= (p.Val351=)
c.3285C= (p.Val1095=)
c.3237C= (p.Val1079=)
c.3006C= (p.Val1002=)
c.2907C= (p.Val969=)
c.2088C= (p.Val696=)
n.3639C=
13g.51941217G>TCA483894226ATP7Bc.*1070C>A (n.*1070C>A)
c.*2164C>A (n.*2164C>A)
c.2799C>A (p.Val933=)
c.3420C>A (p.Val1140=)
c.3087C>A (p.Val1029=)
c.3168C>A (p.Val1056=)
c.3186C>A (p.Val1062=)
n.3559C>A
n.3783C>A
c.2355C>A (p.Val785=)
c.2130C>A (p.Val710=)
c.3225C>A (p.Val1075=)
c.1198C>A
c.*521C>A (n.*521C>A)
n.4164C>A
n.2765C>A
c.3276C>A (p.Val1092=)
c.3324C>A (p.Val1108=)
c.3384C>A (p.Val1128=)
c.2934C>A (p.Val978=)
c.1236C>A (p.Val412=)
c.1053C>A (p.Val351=)
c.3285C>A (p.Val1095=)
c.3237C>A (p.Val1079=)
c.3006C>A (p.Val1002=)
c.2907C>A (p.Val969=)
c.2088C>A (p.Val696=)
n.3639C>A

Number of alleles fetched