Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51939085_51939088delCA912974793ATP7Bc.*1312_*1315del (n.*1312_*1315del)
c.*2406_*2409del (n.*2406_*2409del)
c.3041_3044del (p.Gly1014AlafsTer?)
c.3662_3665del (p.Gly1221AlafsTer?)
c.3329_3332del (p.Gly1110AlafsTer?)
c.3410_3413del (p.Gly1137AlafsTer?)
n.903_906del
c.3428_3431del (p.Gly1143AlafsTer?)
n.3801_3804del
n.528_531del
c.2597_2600del (p.Gly866AlafsTer?)
c.2372_2375del (p.Gly791AlafsTer?)
c.3467_3470del (p.Gly1156AlafsTer?)
c.1440_1443del
c.*763_*766del (n.*763_*766del)
n.4406_4409del
n.3007_3010del
c.3518_3521del (p.Gly1173AlafsTer?)
c.3566_3569del (p.Gly1189AlafsTer?)
c.3626_3629del (p.Gly1209AlafsTer?)
c.3176_3179del (p.Gly1059AlafsTer?)
c.1478_1481del (p.Gly493AlafsTer?)
c.1295_1298del (p.Gly432AlafsTer?)
c.3527_3530del (p.Gly1176AlafsTer?)
c.3479_3482del (p.Gly1160AlafsTer?)
c.3248_3251del (p.Gly1083AlafsTer?)
c.3149_3152del (p.Gly1050AlafsTer?)
c.2330_2333del (p.Gly777AlafsTer?)
n.3881_3884del
13g.51939085_51939088delinsTCCCCA2091556711ATP7Bc.*1312_*1315delinsGGGA (n.*1312_*1315delinsGGGA)
c.*2406_*2409delinsGGGA (n.*2406_*2409delinsGGGA)
c.3041_3044delinsGGGA (p.Gly1014=)
c.3662_3665delinsGGGA (p.Gly1221=)
c.3329_3332delinsGGGA (p.Gly1110=)
c.3410_3413delinsGGGA (p.Gly1137=)
n.903_906delinsGGGA
c.3428_3431delinsGGGA (p.Gly1143=)
n.3801_3804delinsGGGA
n.528_531delinsGGGA
c.2597_2600delinsGGGA (p.Gly866=)
c.2372_2375delinsGGGA (p.Gly791=)
c.3467_3470delinsGGGA (p.Gly1156=)
c.1440_1443delinsGGGA
c.*763_*766delinsGGGA (n.*763_*766delinsGGGA)
n.4406_4409delinsGGGA
n.3007_3010delinsGGGA
c.3518_3521delinsGGGA (p.Gly1173=)
c.3566_3569delinsGGGA (p.Gly1189=)
c.3626_3629delinsGGGA (p.Gly1209=)
c.3176_3179delinsGGGA (p.Gly1059=)
c.1478_1481delinsGGGA (p.Gly493=)
c.1295_1298delinsGGGA (p.Gly432=)
c.3527_3530delinsGGGA (p.Gly1176=)
c.3479_3482delinsGGGA (p.Gly1160=)
c.3248_3251delinsGGGA (p.Gly1083=)
c.3149_3152delinsGGGA (p.Gly1050=)
c.2330_2333delinsGGGA (p.Gly777=)
n.3881_3884delinsGGGA
13g.51939090dupCA2573149700ATP7Bc.*1314dup (n.*1314dup)
c.*2408dup (n.*2408dup)
c.3043dup (p.Asp1015GlyfsTer?)
c.3664dup (p.Asp1222GlyfsTer?)
c.3331dup (p.Asp1111GlyfsTer?)
c.3412dup (p.Asp1138GlyfsTer?)
n.905dup
c.3430dup (p.Asp1144GlyfsTer?)
n.3803dup
n.530dup
c.2599dup (p.Asp867GlyfsTer?)
c.2374dup (p.Asp792GlyfsTer?)
c.3469dup (p.Asp1157GlyfsTer?)
c.1442dup
c.*765dup (n.*765dup)
n.4408dup
n.3009dup
c.3520dup (p.Asp1174GlyfsTer?)
c.3568dup (p.Asp1190GlyfsTer?)
c.3628dup (p.Asp1210GlyfsTer?)
c.3178dup (p.Asp1060GlyfsTer?)
c.1480dup (p.Asp494GlyfsTer?)
c.1297dup (p.Asp433GlyfsTer?)
c.3529dup (p.Asp1177GlyfsTer?)
c.3481dup (p.Asp1161GlyfsTer?)
c.3250dup (p.Asp1084GlyfsTer?)
c.3151dup (p.Asp1051GlyfsTer?)
c.2332dup (p.Asp778GlyfsTer?)
n.3883dup
 ClinVar dbSNP
13g.51939090delCA10604343ATP7Bc.*1314del (n.*1314del)
c.*2408del (n.*2408del)
c.3043del (p.Asp1015ThrfsTer?)
c.3664del (p.Asp1222ThrfsTer?)
c.3331del (p.Asp1111ThrfsTer?)
c.3412del (p.Asp1138ThrfsTer?)
n.905del
c.3430del (p.Asp1144ThrfsTer?)
n.3803del
n.530del
c.2599del (p.Asp867ThrfsTer?)
c.2374del (p.Asp792ThrfsTer?)
c.3469del (p.Asp1157ThrfsTer?)
c.1442del
c.*765del (n.*765del)
n.4408del
n.3009del
c.3520del (p.Asp1174ThrfsTer?)
c.3568del (p.Asp1190ThrfsTer?)
c.3628del (p.Asp1210ThrfsTer?)
c.3178del (p.Asp1060ThrfsTer?)
c.1480del (p.Asp494ThrfsTer?)
c.1297del (p.Asp433ThrfsTer?)
c.3529del (p.Asp1177ThrfsTer?)
c.3481del (p.Asp1161ThrfsTer?)
c.3250del (p.Asp1084ThrfsTer?)
c.3151del (p.Asp1051ThrfsTer?)
c.2332del (p.Asp778ThrfsTer?)
n.3883del
 ClinVar dbSNP
13g.51939089_51939090delCA2695218768ATP7Bc.*1313_*1314del (n.*1313_*1314del)
c.*2407_*2408del (n.*2407_*2408del)
c.3042_3043del (p.Asp1015GlnfsTer?)
c.3663_3664del (p.Asp1222GlnfsTer?)
c.3330_3331del (p.Asp1111GlnfsTer?)
c.3411_3412del (p.Asp1138GlnfsTer?)
n.904_905del
c.3429_3430del (p.Asp1144GlnfsTer?)
n.3802_3803del
n.529_530del
c.2598_2599del (p.Asp867GlnfsTer?)
c.2373_2374del (p.Asp792GlnfsTer?)
c.3468_3469del (p.Asp1157GlnfsTer?)
c.1441_1442del
c.*764_*765del (n.*764_*765del)
n.4407_4408del
n.3008_3009del
c.3519_3520del (p.Asp1174GlnfsTer?)
c.3567_3568del (p.Asp1190GlnfsTer?)
c.3627_3628del (p.Asp1210GlnfsTer?)
c.3177_3178del (p.Asp1060GlnfsTer?)
c.1479_1480del (p.Asp494GlnfsTer?)
c.1296_1297del (p.Asp433GlnfsTer?)
c.3528_3529del (p.Asp1177GlnfsTer?)
c.3480_3481del (p.Asp1161GlnfsTer?)
c.3249_3250del (p.Asp1084GlnfsTer?)
c.3150_3151del (p.Asp1051GlnfsTer?)
c.2331_2332del (p.Asp778GlnfsTer?)
n.3882_3883del
13g.51939088_51939090delCA658823699ATP7Bc.*1312_*1314del (n.*1312_*1314del)
c.*2406_*2408del (n.*2406_*2408del)
c.3041_3043del (p.Gly1014del)
c.3662_3664del (p.Gly1221del)
c.3329_3331del (p.Gly1110del)
c.3410_3412del (p.Gly1137del)
n.903_905del
c.3428_3430del (p.Gly1143del)
n.3801_3803del
n.528_530del
c.2597_2599del (p.Gly866del)
c.2372_2374del (p.Gly791del)
c.3467_3469del (p.Gly1156del)
c.1440_1442del
c.*763_*765del (n.*763_*765del)
n.4406_4408del
n.3007_3009del
c.3518_3520del (p.Gly1173del)
c.3566_3568del (p.Gly1189del)
c.3626_3628del (p.Gly1209del)
c.3176_3178del (p.Gly1059del)
c.1478_1480del (p.Gly493del)
c.1295_1297del (p.Gly432del)
c.3527_3529del (p.Gly1176del)
c.3479_3481del (p.Gly1160del)
c.3248_3250del (p.Gly1083del)
c.3149_3151del (p.Gly1050del)
c.2330_2332del (p.Gly777del)
n.3881_3883del
 ClinVar dbSNP
13g.51939087C>ACA483893697ATP7Bc.*1313G>T (n.*1313G>T)
c.*2407G>T (n.*2407G>T)
c.3042G>T (p.Gly1014=)
c.3663G>T (p.Gly1221=)
c.3330G>T (p.Gly1110=)
c.3411G>T (p.Gly1137=)
n.904G>T
c.3429G>T (p.Gly1143=)
n.3802G>T
n.529G>T
c.2598G>T (p.Gly866=)
c.2373G>T (p.Gly791=)
c.3468G>T (p.Gly1156=)
c.1441G>T
c.*764G>T (n.*764G>T)
n.4407G>T
n.3008G>T
c.3519G>T (p.Gly1173=)
c.3567G>T (p.Gly1189=)
c.3627G>T (p.Gly1209=)
c.3177G>T (p.Gly1059=)
c.1479G>T (p.Gly493=)
c.1296G>T (p.Gly432=)
c.3528G>T (p.Gly1176=)
c.3480G>T (p.Gly1160=)
c.3249G>T (p.Gly1083=)
c.3150G>T (p.Gly1050=)
c.2331G>T (p.Gly777=)
n.3882G>T
 COSMIC
13g.51939087C>GCA483893698ATP7Bc.*1313G>C (n.*1313G>C)
c.*2407G>C (n.*2407G>C)
c.3042G>C (p.Gly1014=)
c.3663G>C (p.Gly1221=)
c.3330G>C (p.Gly1110=)
c.3411G>C (p.Gly1137=)
n.904G>C
c.3429G>C (p.Gly1143=)
n.3802G>C
n.529G>C
c.2598G>C (p.Gly866=)
c.2373G>C (p.Gly791=)
c.3468G>C (p.Gly1156=)
c.1441G>C
c.*764G>C (n.*764G>C)
n.4407G>C
n.3008G>C
c.3519G>C (p.Gly1173=)
c.3567G>C (p.Gly1189=)
c.3627G>C (p.Gly1209=)
c.3177G>C (p.Gly1059=)
c.1479G>C (p.Gly493=)
c.1296G>C (p.Gly432=)
c.3528G>C (p.Gly1176=)
c.3480G>C (p.Gly1160=)
c.3249G>C (p.Gly1083=)
c.3150G>C (p.Gly1050=)
c.2331G>C (p.Gly777=)
n.3882G>C
13g.51939087C>TCA483893699ATP7Bc.*1313G>A (n.*1313G>A)
c.*2407G>A (n.*2407G>A)
c.3042G>A (p.Gly1014=)
c.3663G>A (p.Gly1221=)
c.3330G>A (p.Gly1110=)
c.3411G>A (p.Gly1137=)
n.904G>A
c.3429G>A (p.Gly1143=)
n.3802G>A
n.529G>A
c.2598G>A (p.Gly866=)
c.2373G>A (p.Gly791=)
c.3468G>A (p.Gly1156=)
c.1441G>A
c.*764G>A (n.*764G>A)
n.4407G>A
n.3008G>A
c.3519G>A (p.Gly1173=)
c.3567G>A (p.Gly1189=)
c.3627G>A (p.Gly1209=)
c.3177G>A (p.Gly1059=)
c.1479G>A (p.Gly493=)
c.1296G>A (p.Gly432=)
c.3528G>A (p.Gly1176=)
c.3480G>A (p.Gly1160=)
c.3249G>A (p.Gly1083=)
c.3150G>A (p.Gly1050=)
c.2331G>A (p.Gly777=)
n.3882G>A
13g.51939088C>ACA388023826ATP7Bc.*1312G>T (n.*1312G>T)
c.*2406G>T (n.*2406G>T)
c.3041G>T (p.Gly1014Val)
c.3662G>T (p.Gly1221Val)
c.3329G>T (p.Gly1110Val)
c.3410G>T (p.Gly1137Val)
n.903G>T
c.3428G>T (p.Gly1143Val)
n.3801G>T
n.528G>T
c.2597G>T (p.Gly866Val)
c.2372G>T (p.Gly791Val)
c.3467G>T (p.Gly1156Val)
c.1440G>T
c.*763G>T (n.*763G>T)
n.4406G>T
n.3007G>T
c.3518G>T (p.Gly1173Val)
c.3566G>T (p.Gly1189Val)
c.3626G>T (p.Gly1209Val)
c.3176G>T (p.Gly1059Val)
c.1478G>T (p.Gly493Val)
c.1295G>T (p.Gly432Val)
c.3527G>T (p.Gly1176Val)
c.3479G>T (p.Gly1160Val)
c.3248G>T (p.Gly1083Val)
c.3149G>T (p.Gly1050Val)
c.2330G>T (p.Gly777Val)
n.3881G>T
13g.51939088C=CA2091556725ATP7Bc.*1312G= (n.*1312G=)
c.*2406G= (n.*2406G=)
c.3041G= (p.Gly1014=)
c.3662G= (p.Gly1221=)
c.3329G= (p.Gly1110=)
c.3410G= (p.Gly1137=)
n.903G=
c.3428G= (p.Gly1143=)
n.3801G=
n.528G=
c.2597G= (p.Gly866=)
c.2372G= (p.Gly791=)
c.3467G= (p.Gly1156=)
c.1440G=
c.*763G= (n.*763G=)
n.4406G=
n.3007G=
c.3518G= (p.Gly1173=)
c.3566G= (p.Gly1189=)
c.3626G= (p.Gly1209=)
c.3176G= (p.Gly1059=)
c.1478G= (p.Gly493=)
c.1295G= (p.Gly432=)
c.3527G= (p.Gly1176=)
c.3479G= (p.Gly1160=)
c.3248G= (p.Gly1083=)
c.3149G= (p.Gly1050=)
c.2330G= (p.Gly777=)
n.3881G=
13g.51939088C>GCA388023828ATP7Bc.*1312G>C (n.*1312G>C)
c.*2406G>C (n.*2406G>C)
c.3041G>C (p.Gly1014Ala)
c.3662G>C (p.Gly1221Ala)
c.3329G>C (p.Gly1110Ala)
c.3410G>C (p.Gly1137Ala)
n.903G>C
c.3428G>C (p.Gly1143Ala)
n.3801G>C
n.528G>C
c.2597G>C (p.Gly866Ala)
c.2372G>C (p.Gly791Ala)
c.3467G>C (p.Gly1156Ala)
c.1440G>C
c.*763G>C (n.*763G>C)
n.4406G>C
n.3007G>C
c.3518G>C (p.Gly1173Ala)
c.3566G>C (p.Gly1189Ala)
c.3626G>C (p.Gly1209Ala)
c.3176G>C (p.Gly1059Ala)
c.1478G>C (p.Gly493Ala)
c.1295G>C (p.Gly432Ala)
c.3527G>C (p.Gly1176Ala)
c.3479G>C (p.Gly1160Ala)
c.3248G>C (p.Gly1083Ala)
c.3149G>C (p.Gly1050Ala)
c.2330G>C (p.Gly777Ala)
n.3881G>C
 dbSNP gnomAD v2 gnomAD v4
13g.51939088C>TCA388023832ATP7Bc.*1312G>A (n.*1312G>A)
c.*2406G>A (n.*2406G>A)
c.3041G>A (p.Gly1014Glu)
c.3662G>A (p.Gly1221Glu)
c.3329G>A (p.Gly1110Glu)
c.3410G>A (p.Gly1137Glu)
n.903G>A
c.3428G>A (p.Gly1143Glu)
n.3801G>A
n.528G>A
c.2597G>A (p.Gly866Glu)
c.2372G>A (p.Gly791Glu)
c.3467G>A (p.Gly1156Glu)
c.1440G>A
c.*763G>A (n.*763G>A)
n.4406G>A
n.3007G>A
c.3518G>A (p.Gly1173Glu)
c.3566G>A (p.Gly1189Glu)
c.3626G>A (p.Gly1209Glu)
c.3176G>A (p.Gly1059Glu)
c.1478G>A (p.Gly493Glu)
c.1295G>A (p.Gly432Glu)
c.3527G>A (p.Gly1176Glu)
c.3479G>A (p.Gly1160Glu)
c.3248G>A (p.Gly1083Glu)
c.3149G>A (p.Gly1050Glu)
c.2330G>A (p.Gly777Glu)
n.3881G>A
 ClinVar dbSNP gnomAD v4
13g.51939089C>ACA388023833ATP7Bc.*1311G>T (n.*1311G>T)
c.*2405G>T (n.*2405G>T)
c.3040G>T (p.Gly1014Trp)
c.3661G>T (p.Gly1221Trp)
c.3328G>T (p.Gly1110Trp)
c.3409G>T (p.Gly1137Trp)
n.902G>T
c.3427G>T (p.Gly1143Trp)
n.3800G>T
n.527G>T
c.2596G>T (p.Gly866Trp)
c.2371G>T (p.Gly791Trp)
c.3466G>T (p.Gly1156Trp)
c.1439G>T
c.*762G>T (n.*762G>T)
n.4405G>T
n.3006G>T
c.3517G>T (p.Gly1173Trp)
c.3565G>T (p.Gly1189Trp)
c.3625G>T (p.Gly1209Trp)
c.3175G>T (p.Gly1059Trp)
c.1477G>T (p.Gly493Trp)
c.1294G>T (p.Gly432Trp)
c.3526G>T (p.Gly1176Trp)
c.3478G>T (p.Gly1160Trp)
c.3247G>T (p.Gly1083Trp)
c.3148G>T (p.Gly1050Trp)
c.2329G>T (p.Gly777Trp)
n.3880G>T
13g.51939089C>GCA388023836ATP7Bc.*1311G>C (n.*1311G>C)
c.*2405G>C (n.*2405G>C)
c.3040G>C (p.Gly1014Arg)
c.3661G>C (p.Gly1221Arg)
c.3328G>C (p.Gly1110Arg)
c.3409G>C (p.Gly1137Arg)
n.902G>C
c.3427G>C (p.Gly1143Arg)
n.3800G>C
n.527G>C
c.2596G>C (p.Gly866Arg)
c.2371G>C (p.Gly791Arg)
c.3466G>C (p.Gly1156Arg)
c.1439G>C
c.*762G>C (n.*762G>C)
n.4405G>C
n.3006G>C
c.3517G>C (p.Gly1173Arg)
c.3565G>C (p.Gly1189Arg)
c.3625G>C (p.Gly1209Arg)
c.3175G>C (p.Gly1059Arg)
c.1477G>C (p.Gly493Arg)
c.1294G>C (p.Gly432Arg)
c.3526G>C (p.Gly1176Arg)
c.3478G>C (p.Gly1160Arg)
c.3247G>C (p.Gly1083Arg)
c.3148G>C (p.Gly1050Arg)
c.2329G>C (p.Gly777Arg)
n.3880G>C
 ClinVar
13g.51939089C>TCA388023838ATP7Bc.*1311G>A (n.*1311G>A)
c.*2405G>A (n.*2405G>A)
c.3040G>A (p.Gly1014Arg)
c.3661G>A (p.Gly1221Arg)
c.3328G>A (p.Gly1110Arg)
c.3409G>A (p.Gly1137Arg)
n.902G>A
c.3427G>A (p.Gly1143Arg)
n.3800G>A
n.527G>A
c.2596G>A (p.Gly866Arg)
c.2371G>A (p.Gly791Arg)
c.3466G>A (p.Gly1156Arg)
c.1439G>A
c.*762G>A (n.*762G>A)
n.4405G>A
n.3006G>A
c.3517G>A (p.Gly1173Arg)
c.3565G>A (p.Gly1189Arg)
c.3625G>A (p.Gly1209Arg)
c.3175G>A (p.Gly1059Arg)
c.1477G>A (p.Gly493Arg)
c.1294G>A (p.Gly432Arg)
c.3526G>A (p.Gly1176Arg)
c.3478G>A (p.Gly1160Arg)
c.3247G>A (p.Gly1083Arg)
c.3148G>A (p.Gly1050Arg)
c.2329G>A (p.Gly777Arg)
n.3880G>A
13g.51939090C>ACA483893706ATP7Bc.*1310G>T (n.*1310G>T)
c.*2404G>T (n.*2404G>T)
c.3039G>T (p.Thr1013=)
c.3660G>T (p.Thr1220=)
c.3327G>T (p.Thr1109=)
c.3408G>T (p.Thr1136=)
n.901G>T
c.3426G>T (p.Thr1142=)
n.3799G>T
n.526G>T
c.2595G>T (p.Thr865=)
c.2370G>T (p.Thr790=)
c.3465G>T (p.Thr1155=)
c.1438G>T
c.*761G>T (n.*761G>T)
n.4404G>T
n.3005G>T
c.3516G>T (p.Thr1172=)
c.3564G>T (p.Thr1188=)
c.3624G>T (p.Thr1208=)
c.3174G>T (p.Thr1058=)
c.1476G>T (p.Thr492=)
c.1293G>T (p.Thr431=)
c.3525G>T (p.Thr1175=)
c.3477G>T (p.Thr1159=)
c.3246G>T (p.Thr1082=)
c.3147G>T (p.Thr1049=)
c.2328G>T (p.Thr776=)
n.3879G>T
13g.51939090C=CA2091556727ATP7Bc.*1310G= (n.*1310G=)
c.*2404G= (n.*2404G=)
c.3039G= (p.Thr1013=)
c.3660G= (p.Thr1220=)
c.3327G= (p.Thr1109=)
c.3408G= (p.Thr1136=)
n.901G=
c.3426G= (p.Thr1142=)
n.3799G=
n.526G=
c.2595G= (p.Thr865=)
c.2370G= (p.Thr790=)
c.3465G= (p.Thr1155=)
c.1438G=
c.*761G= (n.*761G=)
n.4404G=
n.3005G=
c.3516G= (p.Thr1172=)
c.3564G= (p.Thr1188=)
c.3624G= (p.Thr1208=)
c.3174G= (p.Thr1058=)
c.1476G= (p.Thr492=)
c.1293G= (p.Thr431=)
c.3525G= (p.Thr1175=)
c.3477G= (p.Thr1159=)
c.3246G= (p.Thr1082=)
c.3147G= (p.Thr1049=)
c.2328G= (p.Thr776=)
n.3879G=
13g.51939090C>GCA483893702ATP7Bc.*1310G>C (n.*1310G>C)
c.*2404G>C (n.*2404G>C)
c.3039G>C (p.Thr1013=)
c.3660G>C (p.Thr1220=)
c.3327G>C (p.Thr1109=)
c.3408G>C (p.Thr1136=)
n.901G>C
c.3426G>C (p.Thr1142=)
n.3799G>C
n.526G>C
c.2595G>C (p.Thr865=)
c.2370G>C (p.Thr790=)
c.3465G>C (p.Thr1155=)
c.1438G>C
c.*761G>C (n.*761G>C)
n.4404G>C
n.3005G>C
c.3516G>C (p.Thr1172=)
c.3564G>C (p.Thr1188=)
c.3624G>C (p.Thr1208=)
c.3174G>C (p.Thr1058=)
c.1476G>C (p.Thr492=)
c.1293G>C (p.Thr431=)
c.3525G>C (p.Thr1175=)
c.3477G>C (p.Thr1159=)
c.3246G>C (p.Thr1082=)
c.3147G>C (p.Thr1049=)
c.2328G>C (p.Thr776=)
n.3879G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51939090C>TCA483893704ATP7Bc.*1310G>A (n.*1310G>A)
c.*2404G>A (n.*2404G>A)
c.3039G>A (p.Thr1013=)
c.3660G>A (p.Thr1220=)
c.3327G>A (p.Thr1109=)
c.3408G>A (p.Thr1136=)
n.901G>A
c.3426G>A (p.Thr1142=)
n.3799G>A
n.526G>A
c.2595G>A (p.Thr865=)
c.2370G>A (p.Thr790=)
c.3465G>A (p.Thr1155=)
c.1438G>A
c.*761G>A (n.*761G>A)
n.4404G>A
n.3005G>A
c.3516G>A (p.Thr1172=)
c.3564G>A (p.Thr1188=)
c.3624G>A (p.Thr1208=)
c.3174G>A (p.Thr1058=)
c.1476G>A (p.Thr492=)
c.1293G>A (p.Thr431=)
c.3525G>A (p.Thr1175=)
c.3477G>A (p.Thr1159=)
c.3246G>A (p.Thr1082=)
c.3147G>A (p.Thr1049=)
c.2328G>A (p.Thr776=)
n.3879G>A
 ClinVar dbSNP gnomAD v4
13g.51939091G>ACA260145ATP7Bc.*1309C>T (n.*1309C>T)
c.*2403C>T (n.*2403C>T)
c.3038C>T (p.Thr1013Met)
c.3659C>T (p.Thr1220Met)
c.3326C>T (p.Thr1109Met)
c.3407C>T (p.Thr1136Met)
n.900C>T
c.3425C>T (p.Thr1142Met)
n.3798C>T
n.525C>T
c.2594C>T (p.Thr865Met)
c.2369C>T (p.Thr790Met)
c.3464C>T (p.Thr1155Met)
c.1437C>T
c.*760C>T (n.*760C>T)
n.4403C>T
n.3004C>T
c.3515C>T (p.Thr1172Met)
c.3563C>T (p.Thr1188Met)
c.3623C>T (p.Thr1208Met)
c.3173C>T (p.Thr1058Met)
c.1475C>T (p.Thr492Met)
c.1292C>T (p.Thr431Met)
c.3524C>T (p.Thr1175Met)
c.3476C>T (p.Thr1159Met)
c.3245C>T (p.Thr1082Met)
c.3146C>T (p.Thr1049Met)
c.2327C>T (p.Thr776Met)
n.3878C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939091G>CCA388023844ATP7Bc.*1309C>G (n.*1309C>G)
c.*2403C>G (n.*2403C>G)
c.3038C>G (p.Thr1013Arg)
c.3659C>G (p.Thr1220Arg)
c.3326C>G (p.Thr1109Arg)
c.3407C>G (p.Thr1136Arg)
n.900C>G
c.3425C>G (p.Thr1142Arg)
n.3798C>G
n.525C>G
c.2594C>G (p.Thr865Arg)
c.2369C>G (p.Thr790Arg)
c.3464C>G (p.Thr1155Arg)
c.1437C>G
c.*760C>G (n.*760C>G)
n.4403C>G
n.3004C>G
c.3515C>G (p.Thr1172Arg)
c.3563C>G (p.Thr1188Arg)
c.3623C>G (p.Thr1208Arg)
c.3173C>G (p.Thr1058Arg)
c.1475C>G (p.Thr492Arg)
c.1292C>G (p.Thr431Arg)
c.3524C>G (p.Thr1175Arg)
c.3476C>G (p.Thr1159Arg)
c.3245C>G (p.Thr1082Arg)
c.3146C>G (p.Thr1049Arg)
c.2327C>G (p.Thr776Arg)
n.3878C>G
13g.51939091G=CA2091556734ATP7Bc.*1309C= (n.*1309C=)
c.*2403C= (n.*2403C=)
c.3038C= (p.Thr1013=)
c.3659C= (p.Thr1220=)
c.3326C= (p.Thr1109=)
c.3407C= (p.Thr1136=)
n.900C=
c.3425C= (p.Thr1142=)
n.3798C=
n.525C=
c.2594C= (p.Thr865=)
c.2369C= (p.Thr790=)
c.3464C= (p.Thr1155=)
c.1437C=
c.*760C= (n.*760C=)
n.4403C=
n.3004C=
c.3515C= (p.Thr1172=)
c.3563C= (p.Thr1188=)
c.3623C= (p.Thr1208=)
c.3173C= (p.Thr1058=)
c.1475C= (p.Thr492=)
c.1292C= (p.Thr431=)
c.3524C= (p.Thr1175=)
c.3476C= (p.Thr1159=)
c.3245C= (p.Thr1082=)
c.3146C= (p.Thr1049=)
c.2327C= (p.Thr776=)
n.3878C=
13g.51939091G>TCA388023848ATP7Bc.*1309C>A (n.*1309C>A)
c.*2403C>A (n.*2403C>A)
c.3038C>A (p.Thr1013Lys)
c.3659C>A (p.Thr1220Lys)
c.3326C>A (p.Thr1109Lys)
c.3407C>A (p.Thr1136Lys)
n.900C>A
c.3425C>A (p.Thr1142Lys)
n.3798C>A
n.525C>A
c.2594C>A (p.Thr865Lys)
c.2369C>A (p.Thr790Lys)
c.3464C>A (p.Thr1155Lys)
c.1437C>A
c.*760C>A (n.*760C>A)
n.4403C>A
n.3004C>A
c.3515C>A (p.Thr1172Lys)
c.3563C>A (p.Thr1188Lys)
c.3623C>A (p.Thr1208Lys)
c.3173C>A (p.Thr1058Lys)
c.1475C>A (p.Thr492Lys)
c.1292C>A (p.Thr431Lys)
c.3524C>A (p.Thr1175Lys)
c.3476C>A (p.Thr1159Lys)
c.3245C>A (p.Thr1082Lys)
c.3146C>A (p.Thr1049Lys)
c.2327C>A (p.Thr776Lys)
n.3878C>A
13g.51939092T>ACA388023851ATP7Bc.*1308A>T (n.*1308A>T)
c.*2402A>T (n.*2402A>T)
c.3037A>T (p.Thr1013Ser)
c.3658A>T (p.Thr1220Ser)
c.3325A>T (p.Thr1109Ser)
c.3406A>T (p.Thr1136Ser)
n.899A>T
c.3424A>T (p.Thr1142Ser)
n.3797A>T
n.524A>T
c.2593A>T (p.Thr865Ser)
c.2368A>T (p.Thr790Ser)
c.3463A>T (p.Thr1155Ser)
c.1436A>T
c.*759A>T (n.*759A>T)
n.4402A>T
n.3003A>T
c.3514A>T (p.Thr1172Ser)
c.3562A>T (p.Thr1188Ser)
c.3622A>T (p.Thr1208Ser)
c.3172A>T (p.Thr1058Ser)
c.1474A>T (p.Thr492Ser)
c.1291A>T (p.Thr431Ser)
c.3523A>T (p.Thr1175Ser)
c.3475A>T (p.Thr1159Ser)
c.3244A>T (p.Thr1082Ser)
c.3145A>T (p.Thr1049Ser)
c.2326A>T (p.Thr776Ser)
n.3877A>T
13g.51939092T>CCA388023854ATP7Bc.*1308A>G (n.*1308A>G)
c.*2402A>G (n.*2402A>G)
c.3037A>G (p.Thr1013Ala)
c.3658A>G (p.Thr1220Ala)
c.3325A>G (p.Thr1109Ala)
c.3406A>G (p.Thr1136Ala)
n.899A>G
c.3424A>G (p.Thr1142Ala)
n.3797A>G
n.524A>G
c.2593A>G (p.Thr865Ala)
c.2368A>G (p.Thr790Ala)
c.3463A>G (p.Thr1155Ala)
c.1436A>G
c.*759A>G (n.*759A>G)
n.4402A>G
n.3003A>G
c.3514A>G (p.Thr1172Ala)
c.3562A>G (p.Thr1188Ala)
c.3622A>G (p.Thr1208Ala)
c.3172A>G (p.Thr1058Ala)
c.1474A>G (p.Thr492Ala)
c.1291A>G (p.Thr431Ala)
c.3523A>G (p.Thr1175Ala)
c.3475A>G (p.Thr1159Ala)
c.3244A>G (p.Thr1082Ala)
c.3145A>G (p.Thr1049Ala)
c.2326A>G (p.Thr776Ala)
n.3877A>G
13g.51939092T>GCA388023861ATP7Bc.*1308A>C (n.*1308A>C)
c.*2402A>C (n.*2402A>C)
c.3037A>C (p.Thr1013Pro)
c.3658A>C (p.Thr1220Pro)
c.3325A>C (p.Thr1109Pro)
c.3406A>C (p.Thr1136Pro)
n.899A>C
c.3424A>C (p.Thr1142Pro)
n.3797A>C
n.524A>C
c.2593A>C (p.Thr865Pro)
c.2368A>C (p.Thr790Pro)
c.3463A>C (p.Thr1155Pro)
c.1436A>C
c.*759A>C (n.*759A>C)
n.4402A>C
n.3003A>C
c.3514A>C (p.Thr1172Pro)
c.3562A>C (p.Thr1188Pro)
c.3622A>C (p.Thr1208Pro)
c.3172A>C (p.Thr1058Pro)
c.1474A>C (p.Thr492Pro)
c.1291A>C (p.Thr431Pro)
c.3523A>C (p.Thr1175Pro)
c.3475A>C (p.Thr1159Pro)
c.3244A>C (p.Thr1082Pro)
c.3145A>C (p.Thr1049Pro)
c.2326A>C (p.Thr776Pro)
n.3877A>C
13g.51939093G>ACA483893714ATP7Bc.*1307C>T (n.*1307C>T)
c.*2401C>T (n.*2401C>T)
c.3036C>T (p.Ile1012=)
c.3657C>T (p.Ile1219=)
c.3324C>T (p.Ile1108=)
c.3405C>T (p.Ile1135=)
n.898C>T
c.3423C>T (p.Ile1141=)
n.3796C>T
n.523C>T
c.2592C>T (p.Ile864=)
c.2367C>T (p.Ile789=)
c.3462C>T (p.Ile1154=)
c.1435C>T
c.*758C>T (n.*758C>T)
n.4401C>T
n.3002C>T
c.3513C>T (p.Ile1171=)
c.3561C>T (p.Ile1187=)
c.3621C>T (p.Ile1207=)
c.3171C>T (p.Ile1057=)
c.1473C>T (p.Ile491=)
c.1290C>T (p.Ile430=)
c.3522C>T (p.Ile1174=)
c.3474C>T (p.Ile1158=)
c.3243C>T (p.Ile1081=)
c.3144C>T (p.Ile1048=)
c.2325C>T (p.Ile775=)
n.3876C>T
 gnomAD v4
13g.51939093G>CCA388023863ATP7Bc.*1307C>G (n.*1307C>G)
c.*2401C>G (n.*2401C>G)
c.3036C>G (p.Ile1012Met)
c.3657C>G (p.Ile1219Met)
c.3324C>G (p.Ile1108Met)
c.3405C>G (p.Ile1135Met)
n.898C>G
c.3423C>G (p.Ile1141Met)
n.3796C>G
n.523C>G
c.2592C>G (p.Ile864Met)
c.2367C>G (p.Ile789Met)
c.3462C>G (p.Ile1154Met)
c.1435C>G
c.*758C>G (n.*758C>G)
n.4401C>G
n.3002C>G
c.3513C>G (p.Ile1171Met)
c.3561C>G (p.Ile1187Met)
c.3621C>G (p.Ile1207Met)
c.3171C>G (p.Ile1057Met)
c.1473C>G (p.Ile491Met)
c.1290C>G (p.Ile430Met)
c.3522C>G (p.Ile1174Met)
c.3474C>G (p.Ile1158Met)
c.3243C>G (p.Ile1081Met)
c.3144C>G (p.Ile1048Met)
c.2325C>G (p.Ile775Met)
n.3876C>G
13g.51939093G>TCA483893718ATP7Bc.*1307C>A (n.*1307C>A)
c.*2401C>A (n.*2401C>A)
c.3036C>A (p.Ile1012=)
c.3657C>A (p.Ile1219=)
c.3324C>A (p.Ile1108=)
c.3405C>A (p.Ile1135=)
n.898C>A
c.3423C>A (p.Ile1141=)
n.3796C>A
n.523C>A
c.2592C>A (p.Ile864=)
c.2367C>A (p.Ile789=)
c.3462C>A (p.Ile1154=)
c.1435C>A
c.*758C>A (n.*758C>A)
n.4401C>A
n.3002C>A
c.3513C>A (p.Ile1171=)
c.3561C>A (p.Ile1187=)
c.3621C>A (p.Ile1207=)
c.3171C>A (p.Ile1057=)
c.1473C>A (p.Ile491=)
c.1290C>A (p.Ile430=)
c.3522C>A (p.Ile1174=)
c.3474C>A (p.Ile1158=)
c.3243C>A (p.Ile1081=)
c.3144C>A (p.Ile1048=)
c.2325C>A (p.Ile775=)
n.3876C>A
13g.51939094A=CA2091556740ATP7Bc.*1306T= (n.*1306T=)
c.*2400T= (n.*2400T=)
c.3035T= (p.Ile1012=)
c.3656T= (p.Ile1219=)
c.3323T= (p.Ile1108=)
c.3404T= (p.Ile1135=)
n.897T=
c.3422T= (p.Ile1141=)
n.3795T=
n.522T=
c.2591T= (p.Ile864=)
c.2366T= (p.Ile789=)
c.3461T= (p.Ile1154=)
c.1434T=
c.*757T= (n.*757T=)
n.4400T=
n.3001T=
c.3512T= (p.Ile1171=)
c.3560T= (p.Ile1187=)
c.3620T= (p.Ile1207=)
c.3170T= (p.Ile1057=)
c.1472T= (p.Ile491=)
c.1289T= (p.Ile430=)
c.3521T= (p.Ile1174=)
c.3473T= (p.Ile1158=)
c.3242T= (p.Ile1081=)
c.3143T= (p.Ile1048=)
c.2324T= (p.Ile775=)
n.3875T=
13g.51939094A>CCA388023873ATP7Bc.*1306T>G (n.*1306T>G)
c.*2400T>G (n.*2400T>G)
c.3035T>G (p.Ile1012Ser)
c.3656T>G (p.Ile1219Ser)
c.3323T>G (p.Ile1108Ser)
c.3404T>G (p.Ile1135Ser)
n.897T>G
c.3422T>G (p.Ile1141Ser)
n.3795T>G
n.522T>G
c.2591T>G (p.Ile864Ser)
c.2366T>G (p.Ile789Ser)
c.3461T>G (p.Ile1154Ser)
c.1434T>G
c.*757T>G (n.*757T>G)
n.4400T>G
n.3001T>G
c.3512T>G (p.Ile1171Ser)
c.3560T>G (p.Ile1187Ser)
c.3620T>G (p.Ile1207Ser)
c.3170T>G (p.Ile1057Ser)
c.1472T>G (p.Ile491Ser)
c.1289T>G (p.Ile430Ser)
c.3521T>G (p.Ile1174Ser)
c.3473T>G (p.Ile1158Ser)
c.3242T>G (p.Ile1081Ser)
c.3143T>G (p.Ile1048Ser)
c.2324T>G (p.Ile775Ser)
n.3875T>G
13g.51939094A>GCA388023867ATP7Bc.*1306T>C (n.*1306T>C)
c.*2400T>C (n.*2400T>C)
c.3035T>C (p.Ile1012Thr)
c.3656T>C (p.Ile1219Thr)
c.3323T>C (p.Ile1108Thr)
c.3404T>C (p.Ile1135Thr)
n.897T>C
c.3422T>C (p.Ile1141Thr)
n.3795T>C
n.522T>C
c.2591T>C (p.Ile864Thr)
c.2366T>C (p.Ile789Thr)
c.3461T>C (p.Ile1154Thr)
c.1434T>C
c.*757T>C (n.*757T>C)
n.4400T>C
n.3001T>C
c.3512T>C (p.Ile1171Thr)
c.3560T>C (p.Ile1187Thr)
c.3620T>C (p.Ile1207Thr)
c.3170T>C (p.Ile1057Thr)
c.1472T>C (p.Ile491Thr)
c.1289T>C (p.Ile430Thr)
c.3521T>C (p.Ile1174Thr)
c.3473T>C (p.Ile1158Thr)
c.3242T>C (p.Ile1081Thr)
c.3143T>C (p.Ile1048Thr)
c.2324T>C (p.Ile775Thr)
n.3875T>C
13g.51939094A>TCA388023869ATP7Bc.*1306T>A (n.*1306T>A)
c.*2400T>A (n.*2400T>A)
c.3035T>A (p.Ile1012Asn)
c.3656T>A (p.Ile1219Asn)
c.3323T>A (p.Ile1108Asn)
c.3404T>A (p.Ile1135Asn)
n.897T>A
c.3422T>A (p.Ile1141Asn)
n.3795T>A
n.522T>A
c.2591T>A (p.Ile864Asn)
c.2366T>A (p.Ile789Asn)
c.3461T>A (p.Ile1154Asn)
c.1434T>A
c.*757T>A (n.*757T>A)
n.4400T>A
n.3001T>A
c.3512T>A (p.Ile1171Asn)
c.3560T>A (p.Ile1187Asn)
c.3620T>A (p.Ile1207Asn)
c.3170T>A (p.Ile1057Asn)
c.1472T>A (p.Ile491Asn)
c.1289T>A (p.Ile430Asn)
c.3521T>A (p.Ile1174Asn)
c.3473T>A (p.Ile1158Asn)
c.3242T>A (p.Ile1081Asn)
c.3143T>A (p.Ile1048Asn)
c.2324T>A (p.Ile775Asn)
n.3875T>A
 dbSNP
13g.51939095T>ACA388023878ATP7Bc.*1305A>T (n.*1305A>T)
c.*2399A>T (n.*2399A>T)
c.3034A>T (p.Ile1012Phe)
c.3655A>T (p.Ile1219Phe)
c.3322A>T (p.Ile1108Phe)
c.3403A>T (p.Ile1135Phe)
n.896A>T
c.3421A>T (p.Ile1141Phe)
n.3794A>T
n.521A>T
c.2590A>T (p.Ile864Phe)
c.2365A>T (p.Ile789Phe)
c.3460A>T (p.Ile1154Phe)
c.1433A>T
c.*756A>T (n.*756A>T)
n.4399A>T
n.3000A>T
c.3511A>T (p.Ile1171Phe)
c.3559A>T (p.Ile1187Phe)
c.3619A>T (p.Ile1207Phe)
c.3169A>T (p.Ile1057Phe)
c.1471A>T (p.Ile491Phe)
c.1288A>T (p.Ile430Phe)
c.3520A>T (p.Ile1174Phe)
c.3472A>T (p.Ile1158Phe)
c.3241A>T (p.Ile1081Phe)
c.3142A>T (p.Ile1048Phe)
c.2323A>T (p.Ile775Phe)
n.3874A>T
13g.51939095T>CCA388023879ATP7Bc.*1305A>G (n.*1305A>G)
c.*2399A>G (n.*2399A>G)
c.3034A>G (p.Ile1012Val)
c.3655A>G (p.Ile1219Val)
c.3322A>G (p.Ile1108Val)
c.3403A>G (p.Ile1135Val)
n.896A>G
c.3421A>G (p.Ile1141Val)
n.3794A>G
n.521A>G
c.2590A>G (p.Ile864Val)
c.2365A>G (p.Ile789Val)
c.3460A>G (p.Ile1154Val)
c.1433A>G
c.*756A>G (n.*756A>G)
n.4399A>G
n.3000A>G
c.3511A>G (p.Ile1171Val)
c.3559A>G (p.Ile1187Val)
c.3619A>G (p.Ile1207Val)
c.3169A>G (p.Ile1057Val)
c.1471A>G (p.Ile491Val)
c.1288A>G (p.Ile430Val)
c.3520A>G (p.Ile1174Val)
c.3472A>G (p.Ile1158Val)
c.3241A>G (p.Ile1081Val)
c.3142A>G (p.Ile1048Val)
c.2323A>G (p.Ile775Val)
n.3874A>G
13g.51939095T>GCA388023886ATP7Bc.*1305A>C (n.*1305A>C)
c.*2399A>C (n.*2399A>C)
c.3034A>C (p.Ile1012Leu)
c.3655A>C (p.Ile1219Leu)
c.3322A>C (p.Ile1108Leu)
c.3403A>C (p.Ile1135Leu)
n.896A>C
c.3421A>C (p.Ile1141Leu)
n.3794A>C
n.521A>C
c.2590A>C (p.Ile864Leu)
c.2365A>C (p.Ile789Leu)
c.3460A>C (p.Ile1154Leu)
c.1433A>C
c.*756A>C (n.*756A>C)
n.4399A>C
n.3000A>C
c.3511A>C (p.Ile1171Leu)
c.3559A>C (p.Ile1187Leu)
c.3619A>C (p.Ile1207Leu)
c.3169A>C (p.Ile1057Leu)
c.1471A>C (p.Ile491Leu)
c.1288A>C (p.Ile430Leu)
c.3520A>C (p.Ile1174Leu)
c.3472A>C (p.Ile1158Leu)
c.3241A>C (p.Ile1081Leu)
c.3142A>C (p.Ile1048Leu)
c.2323A>C (p.Ile775Leu)
n.3874A>C
13g.51939095_51939101delinsTCAGAACCA2091556745ATP7Bc.*1299_*1305delinsGTTCTGA (n.*1299_*1305delinsGTTCTGA)
c.*2393_*2399delinsGTTCTGA (n.*2393_*2399delinsGTTCTGA)
c.3028_3034delinsGTTCTGA (p.Val1010=)
c.3649_3655delinsGTTCTGA (p.Val1217=)
c.3316_3322delinsGTTCTGA (p.Val1106=)
c.3397_3403delinsGTTCTGA (p.Val1133=)
n.890_896delinsGTTCTGA
c.3415_3421delinsGTTCTGA (p.Val1139=)
n.3788_3794delinsGTTCTGA
n.515_521delinsGTTCTGA
c.2584_2590delinsGTTCTGA (p.Val862=)
c.2359_2365delinsGTTCTGA (p.Val787=)
c.3454_3460delinsGTTCTGA (p.Val1152=)
c.1427_1433delinsGTTCTGA
c.*750_*756delinsGTTCTGA (n.*750_*756delinsGTTCTGA)
n.4393_4399delinsGTTCTGA
n.2994_3000delinsGTTCTGA
c.3505_3511delinsGTTCTGA (p.Val1169=)
c.3553_3559delinsGTTCTGA (p.Val1185=)
c.3613_3619delinsGTTCTGA (p.Val1205=)
c.3163_3169delinsGTTCTGA (p.Val1055=)
c.1465_1471delinsGTTCTGA (p.Val489=)
c.1282_1288delinsGTTCTGA (p.Val428=)
c.3514_3520delinsGTTCTGA (p.Val1172=)
c.3466_3472delinsGTTCTGA (p.Val1156=)
c.3235_3241delinsGTTCTGA (p.Val1079=)
c.3136_3142delinsGTTCTGA (p.Val1046=)
c.2317_2323delinsGTTCTGA (p.Val773=)
n.3868_3874delinsGTTCTGA
13g.51939096C>ACA483893724ATP7Bc.*1304G>T (n.*1304G>T)
c.*2398G>T (n.*2398G>T)
c.3033G>T (p.Leu1011=)
c.3654G>T (p.Leu1218=)
c.3321G>T (p.Leu1107=)
c.3402G>T (p.Leu1134=)
n.895G>T
c.3420G>T (p.Leu1140=)
n.3793G>T
n.520G>T
c.2589G>T (p.Leu863=)
c.2364G>T (p.Leu788=)
c.3459G>T (p.Leu1153=)
c.1432G>T
c.*755G>T (n.*755G>T)
n.4398G>T
n.2999G>T
c.3510G>T (p.Leu1170=)
c.3558G>T (p.Leu1186=)
c.3618G>T (p.Leu1206=)
c.3168G>T (p.Leu1056=)
c.1470G>T (p.Leu490=)
c.1287G>T (p.Leu429=)
c.3519G>T (p.Leu1173=)
c.3471G>T (p.Leu1157=)
c.3240G>T (p.Leu1080=)
c.3141G>T (p.Leu1047=)
c.2322G>T (p.Leu774=)
n.3873G>T
13g.51939096C>GCA483893726ATP7Bc.*1304G>C (n.*1304G>C)
c.*2398G>C (n.*2398G>C)
c.3033G>C (p.Leu1011=)
c.3654G>C (p.Leu1218=)
c.3321G>C (p.Leu1107=)
c.3402G>C (p.Leu1134=)
n.895G>C
c.3420G>C (p.Leu1140=)
n.3793G>C
n.520G>C
c.2589G>C (p.Leu863=)
c.2364G>C (p.Leu788=)
c.3459G>C (p.Leu1153=)
c.1432G>C
c.*755G>C (n.*755G>C)
n.4398G>C
n.2999G>C
c.3510G>C (p.Leu1170=)
c.3558G>C (p.Leu1186=)
c.3618G>C (p.Leu1206=)
c.3168G>C (p.Leu1056=)
c.1470G>C (p.Leu490=)
c.1287G>C (p.Leu429=)
c.3519G>C (p.Leu1173=)
c.3471G>C (p.Leu1157=)
c.3240G>C (p.Leu1080=)
c.3141G>C (p.Leu1047=)
c.2322G>C (p.Leu774=)
n.3873G>C
13g.51939096C>TCA483893728ATP7Bc.*1304G>A (n.*1304G>A)
c.*2398G>A (n.*2398G>A)
c.3033G>A (p.Leu1011=)
c.3654G>A (p.Leu1218=)
c.3321G>A (p.Leu1107=)
c.3402G>A (p.Leu1134=)
n.895G>A
c.3420G>A (p.Leu1140=)
n.3793G>A
n.520G>A
c.2589G>A (p.Leu863=)
c.2364G>A (p.Leu788=)
c.3459G>A (p.Leu1153=)
c.1432G>A
c.*755G>A (n.*755G>A)
n.4398G>A
n.2999G>A
c.3510G>A (p.Leu1170=)
c.3558G>A (p.Leu1186=)
c.3618G>A (p.Leu1206=)
c.3168G>A (p.Leu1056=)
c.1470G>A (p.Leu490=)
c.1287G>A (p.Leu429=)
c.3519G>A (p.Leu1173=)
c.3471G>A (p.Leu1157=)
c.3240G>A (p.Leu1080=)
c.3141G>A (p.Leu1047=)
c.2322G>A (p.Leu774=)
n.3873G>A
 ClinVar dbSNP
13g.51939098_51939103delCA274259ATP7Bc.*1299_*1304del (n.*1299_*1304del)
c.*2393_*2398del (n.*2393_*2398del)
c.3028_3033del (p.Val1010_Leu1011del)
c.3649_3654del (p.Val1217_Leu1218del)
c.3316_3321del (p.Val1106_Leu1107del)
c.3397_3402del (p.Val1133_Leu1134del)
n.890_895del
c.3415_3420del (p.Val1139_Leu1140del)
n.3788_3793del
n.515_520del
c.2584_2589del (p.Val862_Leu863del)
c.2359_2364del (p.Val787_Leu788del)
c.3454_3459del (p.Val1152_Leu1153del)
c.1427_1432del
c.*750_*755del (n.*750_*755del)
n.4393_4398del
n.2994_2999del
c.3505_3510del (p.Val1169_Leu1170del)
c.3553_3558del (p.Val1185_Leu1186del)
c.3613_3618del (p.Val1205_Leu1206del)
c.3163_3168del (p.Val1055_Leu1056del)
c.1465_1470del (p.Val489_Leu490del)
c.1282_1287del (p.Val428_Leu429del)
c.3514_3519del (p.Val1172_Leu1173del)
c.3466_3471del (p.Val1156_Leu1157del)
c.3235_3240del (p.Val1079_Leu1080del)
c.3136_3141del (p.Val1046_Leu1047del)
c.2317_2322del (p.Val773_Leu774del)
n.3868_3873del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939097A>CCA388023893ATP7Bc.*1303T>G (n.*1303T>G)
c.*2397T>G (n.*2397T>G)
c.3032T>G (p.Leu1011Arg)
c.3653T>G (p.Leu1218Arg)
c.3320T>G (p.Leu1107Arg)
c.3401T>G (p.Leu1134Arg)
n.894T>G
c.3419T>G (p.Leu1140Arg)
n.3792T>G
n.519T>G
c.2588T>G (p.Leu863Arg)
c.2363T>G (p.Leu788Arg)
c.3458T>G (p.Leu1153Arg)
c.1431T>G
c.*754T>G (n.*754T>G)
n.4397T>G
n.2998T>G
c.3509T>G (p.Leu1170Arg)
c.3557T>G (p.Leu1186Arg)
c.3617T>G (p.Leu1206Arg)
c.3167T>G (p.Leu1056Arg)
c.1469T>G (p.Leu490Arg)
c.1286T>G (p.Leu429Arg)
c.3518T>G (p.Leu1173Arg)
c.3470T>G (p.Leu1157Arg)
c.3239T>G (p.Leu1080Arg)
c.3140T>G (p.Leu1047Arg)
c.2321T>G (p.Leu774Arg)
n.3872T>G
13g.51939097A>GCA388023898ATP7Bc.*1303T>C (n.*1303T>C)
c.*2397T>C (n.*2397T>C)
c.3032T>C (p.Leu1011Pro)
c.3653T>C (p.Leu1218Pro)
c.3320T>C (p.Leu1107Pro)
c.3401T>C (p.Leu1134Pro)
n.894T>C
c.3419T>C (p.Leu1140Pro)
n.3792T>C
n.519T>C
c.2588T>C (p.Leu863Pro)
c.2363T>C (p.Leu788Pro)
c.3458T>C (p.Leu1153Pro)
c.1431T>C
c.*754T>C (n.*754T>C)
n.4397T>C
n.2998T>C
c.3509T>C (p.Leu1170Pro)
c.3557T>C (p.Leu1186Pro)
c.3617T>C (p.Leu1206Pro)
c.3167T>C (p.Leu1056Pro)
c.1469T>C (p.Leu490Pro)
c.1286T>C (p.Leu429Pro)
c.3518T>C (p.Leu1173Pro)
c.3470T>C (p.Leu1157Pro)
c.3239T>C (p.Leu1080Pro)
c.3140T>C (p.Leu1047Pro)
c.2321T>C (p.Leu774Pro)
n.3872T>C
13g.51939097A>TCA388023906ATP7Bc.*1303T>A (n.*1303T>A)
c.*2397T>A (n.*2397T>A)
c.3032T>A (p.Leu1011Gln)
c.3653T>A (p.Leu1218Gln)
c.3320T>A (p.Leu1107Gln)
c.3401T>A (p.Leu1134Gln)
n.894T>A
c.3419T>A (p.Leu1140Gln)
n.3792T>A
n.519T>A
c.2588T>A (p.Leu863Gln)
c.2363T>A (p.Leu788Gln)
c.3458T>A (p.Leu1153Gln)
c.1431T>A
c.*754T>A (n.*754T>A)
n.4397T>A
n.2998T>A
c.3509T>A (p.Leu1170Gln)
c.3557T>A (p.Leu1186Gln)
c.3617T>A (p.Leu1206Gln)
c.3167T>A (p.Leu1056Gln)
c.1469T>A (p.Leu490Gln)
c.1286T>A (p.Leu429Gln)
c.3518T>A (p.Leu1173Gln)
c.3470T>A (p.Leu1157Gln)
c.3239T>A (p.Leu1080Gln)
c.3140T>A (p.Leu1047Gln)
c.2321T>A (p.Leu774Gln)
n.3872T>A
13g.51939098G>ACA250075079ATP7Bc.*1302C>T (n.*1302C>T)
c.*2396C>T (n.*2396C>T)
c.3031C>T (p.Leu1011=)
c.3652C>T (p.Leu1218=)
c.3319C>T (p.Leu1107=)
c.3400C>T (p.Leu1134=)
n.893C>T
c.3418C>T (p.Leu1140=)
n.3791C>T
n.518C>T
c.2587C>T (p.Leu863=)
c.2362C>T (p.Leu788=)
c.3457C>T (p.Leu1153=)
c.1430C>T
c.*753C>T (n.*753C>T)
n.4396C>T
n.2997C>T
c.3508C>T (p.Leu1170=)
c.3556C>T (p.Leu1186=)
c.3616C>T (p.Leu1206=)
c.3166C>T (p.Leu1056=)
c.1468C>T (p.Leu490=)
c.1285C>T (p.Leu429=)
c.3517C>T (p.Leu1173=)
c.3469C>T (p.Leu1157=)
c.3238C>T (p.Leu1080=)
c.3139C>T (p.Leu1047=)
c.2320C>T (p.Leu774=)
n.3871C>T
 dbSNP gnomAD v4
13g.51939098G>CCA388023907ATP7Bc.*1302C>G (n.*1302C>G)
c.*2396C>G (n.*2396C>G)
c.3031C>G (p.Leu1011Val)
c.3652C>G (p.Leu1218Val)
c.3319C>G (p.Leu1107Val)
c.3400C>G (p.Leu1134Val)
n.893C>G
c.3418C>G (p.Leu1140Val)
n.3791C>G
n.518C>G
c.2587C>G (p.Leu863Val)
c.2362C>G (p.Leu788Val)
c.3457C>G (p.Leu1153Val)
c.1430C>G
c.*753C>G (n.*753C>G)
n.4396C>G
n.2997C>G
c.3508C>G (p.Leu1170Val)
c.3556C>G (p.Leu1186Val)
c.3616C>G (p.Leu1206Val)
c.3166C>G (p.Leu1056Val)
c.1468C>G (p.Leu490Val)
c.1285C>G (p.Leu429Val)
c.3517C>G (p.Leu1173Val)
c.3469C>G (p.Leu1157Val)
c.3238C>G (p.Leu1080Val)
c.3139C>G (p.Leu1047Val)
c.2320C>G (p.Leu774Val)
n.3871C>G
 COSMIC
13g.51939098G=CA2091556758ATP7Bc.*1302C= (n.*1302C=)
c.*2396C= (n.*2396C=)
c.3031C= (p.Leu1011=)
c.3652C= (p.Leu1218=)
c.3319C= (p.Leu1107=)
c.3400C= (p.Leu1134=)
n.893C=
c.3418C= (p.Leu1140=)
n.3791C=
n.518C=
c.2587C= (p.Leu863=)
c.2362C= (p.Leu788=)
c.3457C= (p.Leu1153=)
c.1430C=
c.*753C= (n.*753C=)
n.4396C=
n.2997C=
c.3508C= (p.Leu1170=)
c.3556C= (p.Leu1186=)
c.3616C= (p.Leu1206=)
c.3166C= (p.Leu1056=)
c.1468C= (p.Leu490=)
c.1285C= (p.Leu429=)
c.3517C= (p.Leu1173=)
c.3469C= (p.Leu1157=)
c.3238C= (p.Leu1080=)
c.3139C= (p.Leu1047=)
c.2320C= (p.Leu774=)
n.3871C=
13g.51939098G>TCA388023908ATP7Bc.*1302C>A (n.*1302C>A)
c.*2396C>A (n.*2396C>A)
c.3031C>A (p.Leu1011Met)
c.3652C>A (p.Leu1218Met)
c.3319C>A (p.Leu1107Met)
c.3400C>A (p.Leu1134Met)
n.893C>A
c.3418C>A (p.Leu1140Met)
n.3791C>A
n.518C>A
c.2587C>A (p.Leu863Met)
c.2362C>A (p.Leu788Met)
c.3457C>A (p.Leu1153Met)
c.1430C>A
c.*753C>A (n.*753C>A)
n.4396C>A
n.2997C>A
c.3508C>A (p.Leu1170Met)
c.3556C>A (p.Leu1186Met)
c.3616C>A (p.Leu1206Met)
c.3166C>A (p.Leu1056Met)
c.1468C>A (p.Leu490Met)
c.1285C>A (p.Leu429Met)
c.3517C>A (p.Leu1173Met)
c.3469C>A (p.Leu1157Met)
c.3238C>A (p.Leu1080Met)
c.3139C>A (p.Leu1047Met)
c.2320C>A (p.Leu774Met)
n.3871C>A
13g.51939099A>CCA483893741ATP7Bc.*1301T>G (n.*1301T>G)
c.*2395T>G (n.*2395T>G)
c.3030T>G (p.Val1010=)
c.3651T>G (p.Val1217=)
c.3318T>G (p.Val1106=)
c.3399T>G (p.Val1133=)
n.892T>G
c.3417T>G (p.Val1139=)
n.3790T>G
n.517T>G
c.2586T>G (p.Val862=)
c.2361T>G (p.Val787=)
c.3456T>G (p.Val1152=)
c.1429T>G
c.*752T>G (n.*752T>G)
n.4395T>G
n.2996T>G
c.3507T>G (p.Val1169=)
c.3555T>G (p.Val1185=)
c.3615T>G (p.Val1205=)
c.3165T>G (p.Val1055=)
c.1467T>G (p.Val489=)
c.1284T>G (p.Val428=)
c.3516T>G (p.Val1172=)
c.3468T>G (p.Val1156=)
c.3237T>G (p.Val1079=)
c.3138T>G (p.Val1046=)
c.2319T>G (p.Val773=)
n.3870T>G
13g.51939099A>GCA483893743ATP7Bc.*1301T>C (n.*1301T>C)
c.*2395T>C (n.*2395T>C)
c.3030T>C (p.Val1010=)
c.3651T>C (p.Val1217=)
c.3318T>C (p.Val1106=)
c.3399T>C (p.Val1133=)
n.892T>C
c.3417T>C (p.Val1139=)
n.3790T>C
n.517T>C
c.2586T>C (p.Val862=)
c.2361T>C (p.Val787=)
c.3456T>C (p.Val1152=)
c.1429T>C
c.*752T>C (n.*752T>C)
n.4395T>C
n.2996T>C
c.3507T>C (p.Val1169=)
c.3555T>C (p.Val1185=)
c.3615T>C (p.Val1205=)
c.3165T>C (p.Val1055=)
c.1467T>C (p.Val489=)
c.1284T>C (p.Val428=)
c.3516T>C (p.Val1172=)
c.3468T>C (p.Val1156=)
c.3237T>C (p.Val1079=)
c.3138T>C (p.Val1046=)
c.2319T>C (p.Val773=)
n.3870T>C
13g.51939099A>TCA483893740ATP7Bc.*1301T>A (n.*1301T>A)
c.*2395T>A (n.*2395T>A)
c.3030T>A (p.Val1010=)
c.3651T>A (p.Val1217=)
c.3318T>A (p.Val1106=)
c.3399T>A (p.Val1133=)
n.892T>A
c.3417T>A (p.Val1139=)
n.3790T>A
n.517T>A
c.2586T>A (p.Val862=)
c.2361T>A (p.Val787=)
c.3456T>A (p.Val1152=)
c.1429T>A
c.*752T>A (n.*752T>A)
n.4395T>A
n.2996T>A
c.3507T>A (p.Val1169=)
c.3555T>A (p.Val1185=)
c.3615T>A (p.Val1205=)
c.3165T>A (p.Val1055=)
c.1467T>A (p.Val489=)
c.1284T>A (p.Val428=)
c.3516T>A (p.Val1172=)
c.3468T>A (p.Val1156=)
c.3237T>A (p.Val1079=)
c.3138T>A (p.Val1046=)
c.2319T>A (p.Val773=)
n.3870T>A
 gnomAD v4
13g.51939100A=CA2091556766ATP7Bc.*1300T= (n.*1300T=)
c.*2394T= (n.*2394T=)
c.3029T= (p.Val1010=)
c.3650T= (p.Val1217=)
c.3317T= (p.Val1106=)
c.3398T= (p.Val1133=)
n.891T=
c.3416T= (p.Val1139=)
n.3789T=
n.516T=
c.2585T= (p.Val862=)
c.2360T= (p.Val787=)
c.3455T= (p.Val1152=)
c.1428T=
c.*751T= (n.*751T=)
n.4394T=
n.2995T=
c.3506T= (p.Val1169=)
c.3554T= (p.Val1185=)
c.3614T= (p.Val1205=)
c.3164T= (p.Val1055=)
c.1466T= (p.Val489=)
c.1283T= (p.Val428=)
c.3515T= (p.Val1172=)
c.3467T= (p.Val1156=)
c.3236T= (p.Val1079=)
c.3137T= (p.Val1046=)
c.2318T= (p.Val773=)
n.3869T=
13g.51939100A>CCA388023918ATP7Bc.*1300T>G (n.*1300T>G)
c.*2394T>G (n.*2394T>G)
c.3029T>G (p.Val1010Gly)
c.3650T>G (p.Val1217Gly)
c.3317T>G (p.Val1106Gly)
c.3398T>G (p.Val1133Gly)
n.891T>G
c.3416T>G (p.Val1139Gly)
n.3789T>G
n.516T>G
c.2585T>G (p.Val862Gly)
c.2360T>G (p.Val787Gly)
c.3455T>G (p.Val1152Gly)
c.1428T>G
c.*751T>G (n.*751T>G)
n.4394T>G
n.2995T>G
c.3506T>G (p.Val1169Gly)
c.3554T>G (p.Val1185Gly)
c.3614T>G (p.Val1205Gly)
c.3164T>G (p.Val1055Gly)
c.1466T>G (p.Val489Gly)
c.1283T>G (p.Val428Gly)
c.3515T>G (p.Val1172Gly)
c.3467T>G (p.Val1156Gly)
c.3236T>G (p.Val1079Gly)
c.3137T>G (p.Val1046Gly)
c.2318T>G (p.Val773Gly)
n.3869T>G
13g.51939100A>GCA388023913ATP7Bc.*1300T>C (n.*1300T>C)
c.*2394T>C (n.*2394T>C)
c.3029T>C (p.Val1010Ala)
c.3650T>C (p.Val1217Ala)
c.3317T>C (p.Val1106Ala)
c.3398T>C (p.Val1133Ala)
n.891T>C
c.3416T>C (p.Val1139Ala)
n.3789T>C
n.516T>C
c.2585T>C (p.Val862Ala)
c.2360T>C (p.Val787Ala)
c.3455T>C (p.Val1152Ala)
c.1428T>C
c.*751T>C (n.*751T>C)
n.4394T>C
n.2995T>C
c.3506T>C (p.Val1169Ala)
c.3554T>C (p.Val1185Ala)
c.3614T>C (p.Val1205Ala)
c.3164T>C (p.Val1055Ala)
c.1466T>C (p.Val489Ala)
c.1283T>C (p.Val428Ala)
c.3515T>C (p.Val1172Ala)
c.3467T>C (p.Val1156Ala)
c.3236T>C (p.Val1079Ala)
c.3137T>C (p.Val1046Ala)
c.2318T>C (p.Val773Ala)
n.3869T>C
13g.51939100A>TCA388023911ATP7Bc.*1300T>A (n.*1300T>A)
c.*2394T>A (n.*2394T>A)
c.3029T>A (p.Val1010Asp)
c.3650T>A (p.Val1217Asp)
c.3317T>A (p.Val1106Asp)
c.3398T>A (p.Val1133Asp)
n.891T>A
c.3416T>A (p.Val1139Asp)
n.3789T>A
n.516T>A
c.2585T>A (p.Val862Asp)
c.2360T>A (p.Val787Asp)
c.3455T>A (p.Val1152Asp)
c.1428T>A
c.*751T>A (n.*751T>A)
n.4394T>A
n.2995T>A
c.3506T>A (p.Val1169Asp)
c.3554T>A (p.Val1185Asp)
c.3614T>A (p.Val1205Asp)
c.3164T>A (p.Val1055Asp)
c.1466T>A (p.Val489Asp)
c.1283T>A (p.Val428Asp)
c.3515T>A (p.Val1172Asp)
c.3467T>A (p.Val1156Asp)
c.3236T>A (p.Val1079Asp)
c.3137T>A (p.Val1046Asp)
c.2318T>A (p.Val773Asp)
n.3869T>A
 dbSNP gnomAD v3 gnomAD v4
13g.51939101C>ACA388023927ATP7Bc.*1299G>T (n.*1299G>T)
c.*2393G>T (n.*2393G>T)
c.3028G>T (p.Val1010Phe)
c.3649G>T (p.Val1217Phe)
c.3316G>T (p.Val1106Phe)
c.3397G>T (p.Val1133Phe)
n.890G>T
c.3415G>T (p.Val1139Phe)
n.3788G>T
n.515G>T
c.2584G>T (p.Val862Phe)
c.2359G>T (p.Val787Phe)
c.3454G>T (p.Val1152Phe)
c.1427G>T
c.*750G>T (n.*750G>T)
n.4393G>T
n.2994G>T
c.3505G>T (p.Val1169Phe)
c.3553G>T (p.Val1185Phe)
c.3613G>T (p.Val1205Phe)
c.3163G>T (p.Val1055Phe)
c.1465G>T (p.Val489Phe)
c.1282G>T (p.Val428Phe)
c.3514G>T (p.Val1172Phe)
c.3466G>T (p.Val1156Phe)
c.3235G>T (p.Val1079Phe)
c.3136G>T (p.Val1046Phe)
c.2317G>T (p.Val773Phe)
n.3868G>T
13g.51939101C>GCA388023935ATP7Bc.*1299G>C (n.*1299G>C)
c.*2393G>C (n.*2393G>C)
c.3028G>C (p.Val1010Leu)
c.3649G>C (p.Val1217Leu)
c.3316G>C (p.Val1106Leu)
c.3397G>C (p.Val1133Leu)
n.890G>C
c.3415G>C (p.Val1139Leu)
n.3788G>C
n.515G>C
c.2584G>C (p.Val862Leu)
c.2359G>C (p.Val787Leu)
c.3454G>C (p.Val1152Leu)
c.1427G>C
c.*750G>C (n.*750G>C)
n.4393G>C
n.2994G>C
c.3505G>C (p.Val1169Leu)
c.3553G>C (p.Val1185Leu)
c.3613G>C (p.Val1205Leu)
c.3163G>C (p.Val1055Leu)
c.1465G>C (p.Val489Leu)
c.1282G>C (p.Val428Leu)
c.3514G>C (p.Val1172Leu)
c.3466G>C (p.Val1156Leu)
c.3235G>C (p.Val1079Leu)
c.3136G>C (p.Val1046Leu)
c.2317G>C (p.Val773Leu)
n.3868G>C
13g.51939101C>TCA388023936ATP7Bc.*1299G>A (n.*1299G>A)
c.*2393G>A (n.*2393G>A)
c.3028G>A (p.Val1010Ile)
c.3649G>A (p.Val1217Ile)
c.3316G>A (p.Val1106Ile)
c.3397G>A (p.Val1133Ile)
n.890G>A
c.3415G>A (p.Val1139Ile)
n.3788G>A
n.515G>A
c.2584G>A (p.Val862Ile)
c.2359G>A (p.Val787Ile)
c.3454G>A (p.Val1152Ile)
c.1427G>A
c.*750G>A (n.*750G>A)
n.4393G>A
n.2994G>A
c.3505G>A (p.Val1169Ile)
c.3553G>A (p.Val1185Ile)
c.3613G>A (p.Val1205Ile)
c.3163G>A (p.Val1055Ile)
c.1465G>A (p.Val489Ile)
c.1282G>A (p.Val428Ile)
c.3514G>A (p.Val1172Ile)
c.3466G>A (p.Val1156Ile)
c.3235G>A (p.Val1079Ile)
c.3136G>A (p.Val1046Ile)
c.2317G>A (p.Val773Ile)
n.3868G>A
13g.51939102delCA2623119629ATP7Bc.*1299del (n.*1299del)
c.*2393del (n.*2393del)
c.3028del (p.Val1010PhefsTer2)
c.3649del (p.Val1217PhefsTer2)
c.3316del (p.Val1106PhefsTer2)
c.3397del (p.Val1133PhefsTer2)
n.890del
c.3415del (p.Val1139PhefsTer2)
n.3788del
n.515del
c.2584del (p.Val862PhefsTer2)
c.2359del (p.Val787PhefsTer2)
c.3454del (p.Val1152PhefsTer2)
c.1427del
c.*750del (n.*750del)
n.4393del
n.2994del
c.3505del (p.Val1169PhefsTer2)
c.3553del (p.Val1185PhefsTer2)
c.3613del (p.Val1205PhefsTer2)
c.3163del (p.Val1055PhefsTer2)
c.1465del (p.Val489PhefsTer2)
c.1282del (p.Val428PhefsTer2)
c.3514del (p.Val1172PhefsTer2)
c.3466del (p.Val1156PhefsTer2)
c.3235del (p.Val1079PhefsTer2)
c.3136del (p.Val1046PhefsTer2)
c.2317del (p.Val773PhefsTer2)
n.3868del
 ClinVar gnomAD v4
13g.51939102C>ACA483893749ATP7Bc.*1298G>T (n.*1298G>T)
c.*2392G>T (n.*2392G>T)
c.3027G>T (p.Val1009=)
c.3648G>T (p.Val1216=)
c.3315G>T (p.Val1105=)
c.3396G>T (p.Val1132=)
n.889G>T
c.3414G>T (p.Val1138=)
n.3787G>T
n.514G>T
c.2583G>T (p.Val861=)
c.2358G>T (p.Val786=)
c.3453G>T (p.Val1151=)
c.1426G>T
c.*749G>T (n.*749G>T)
n.4392G>T
n.2993G>T
c.3504G>T (p.Val1168=)
c.3552G>T (p.Val1184=)
c.3612G>T (p.Val1204=)
c.3162G>T (p.Val1054=)
c.1464G>T (p.Val488=)
c.1281G>T (p.Val427=)
c.3513G>T (p.Val1171=)
c.3465G>T (p.Val1155=)
c.3234G>T (p.Val1078=)
c.3135G>T (p.Val1045=)
c.2316G>T (p.Val772=)
n.3867G>T
13g.51939102C>GCA483893750ATP7Bc.*1298G>C (n.*1298G>C)
c.*2392G>C (n.*2392G>C)
c.3027G>C (p.Val1009=)
c.3648G>C (p.Val1216=)
c.3315G>C (p.Val1105=)
c.3396G>C (p.Val1132=)
n.889G>C
c.3414G>C (p.Val1138=)
n.3787G>C
n.514G>C
c.2583G>C (p.Val861=)
c.2358G>C (p.Val786=)
c.3453G>C (p.Val1151=)
c.1426G>C
c.*749G>C (n.*749G>C)
n.4392G>C
n.2993G>C
c.3504G>C (p.Val1168=)
c.3552G>C (p.Val1184=)
c.3612G>C (p.Val1204=)
c.3162G>C (p.Val1054=)
c.1464G>C (p.Val488=)
c.1281G>C (p.Val427=)
c.3513G>C (p.Val1171=)
c.3465G>C (p.Val1155=)
c.3234G>C (p.Val1078=)
c.3135G>C (p.Val1045=)
c.2316G>C (p.Val772=)
n.3867G>C
13g.51939102C>TCA483893751ATP7Bc.*1298G>A (n.*1298G>A)
c.*2392G>A (n.*2392G>A)
c.3027G>A (p.Val1009=)
c.3648G>A (p.Val1216=)
c.3315G>A (p.Val1105=)
c.3396G>A (p.Val1132=)
n.889G>A
c.3414G>A (p.Val1138=)
n.3787G>A
n.514G>A
c.2583G>A (p.Val861=)
c.2358G>A (p.Val786=)
c.3453G>A (p.Val1151=)
c.1426G>A
c.*749G>A (n.*749G>A)
n.4392G>A
n.2993G>A
c.3504G>A (p.Val1168=)
c.3552G>A (p.Val1184=)
c.3612G>A (p.Val1204=)
c.3162G>A (p.Val1054=)
c.1464G>A (p.Val488=)
c.1281G>A (p.Val427=)
c.3513G>A (p.Val1171=)
c.3465G>A (p.Val1155=)
c.3234G>A (p.Val1078=)
c.3135G>A (p.Val1045=)
c.2316G>A (p.Val772=)
n.3867G>A
 ClinVar gnomAD v4
13g.51939104_51939124delCA2739277679ATP7Bc.*1278_*1298del (n.*1278_*1298del)
c.*2372_*2392del (n.*2372_*2392del)
c.3007_3027del (p.Gln1003_Val1009del)
c.3628_3648del (p.Gln1210_Val1216del)
c.3295_3315del (p.Gln1099_Val1105del)
c.3376_3396del (p.Gln1126_Val1132del)
n.869_889del
c.3394_3414del (p.Gln1132_Val1138del)
n.3767_3787del
n.494_514del
c.2563_2583del (p.Gln855_Val861del)
c.2338_2358del (p.Gln780_Val786del)
c.3433_3453del (p.Gln1145_Val1151del)
c.1406_1426del
c.*729_*749del (n.*729_*749del)
n.4372_4392del
n.2973_2993del
c.3484_3504del (p.Gln1162_Val1168del)
c.3532_3552del (p.Gln1178_Val1184del)
c.3592_3612del (p.Gln1198_Val1204del)
c.3142_3162del (p.Gln1048_Val1054del)
c.1444_1464del (p.Gln482_Val488del)
c.1261_1281del (p.Gln421_Val427del)
c.3493_3513del (p.Gln1165_Val1171del)
c.3445_3465del (p.Gln1149_Val1155del)
c.3214_3234del (p.Gln1072_Val1078del)
c.3115_3135del (p.Gln1039_Val1045del)
c.2296_2316del (p.Gln766_Val772del)
n.3847_3867del
 ClinVar
13g.51939103A>CCA388023941ATP7Bc.*1297T>G (n.*1297T>G)
c.*2391T>G (n.*2391T>G)
c.3026T>G (p.Val1009Gly)
c.3647T>G (p.Val1216Gly)
c.3314T>G (p.Val1105Gly)
c.3395T>G (p.Val1132Gly)
n.888T>G
c.3413T>G (p.Val1138Gly)
n.3786T>G
n.513T>G
c.2582T>G (p.Val861Gly)
c.2357T>G (p.Val786Gly)
c.3452T>G (p.Val1151Gly)
c.1425T>G
c.*748T>G (n.*748T>G)
n.4391T>G
n.2992T>G
c.3503T>G (p.Val1168Gly)
c.3551T>G (p.Val1184Gly)
c.3611T>G (p.Val1204Gly)
c.3161T>G (p.Val1054Gly)
c.1463T>G (p.Val488Gly)
c.1280T>G (p.Val427Gly)
c.3512T>G (p.Val1171Gly)
c.3464T>G (p.Val1155Gly)
c.3233T>G (p.Val1078Gly)
c.3134T>G (p.Val1045Gly)
c.2315T>G (p.Val772Gly)
n.3866T>G
13g.51939103A>GCA388023943ATP7Bc.*1297T>C (n.*1297T>C)
c.*2391T>C (n.*2391T>C)
c.3026T>C (p.Val1009Ala)
c.3647T>C (p.Val1216Ala)
c.3314T>C (p.Val1105Ala)
c.3395T>C (p.Val1132Ala)
n.888T>C
c.3413T>C (p.Val1138Ala)
n.3786T>C
n.513T>C
c.2582T>C (p.Val861Ala)
c.2357T>C (p.Val786Ala)
c.3452T>C (p.Val1151Ala)
c.1425T>C
c.*748T>C (n.*748T>C)
n.4391T>C
n.2992T>C
c.3503T>C (p.Val1168Ala)
c.3551T>C (p.Val1184Ala)
c.3611T>C (p.Val1204Ala)
c.3161T>C (p.Val1054Ala)
c.1463T>C (p.Val488Ala)
c.1280T>C (p.Val427Ala)
c.3512T>C (p.Val1171Ala)
c.3464T>C (p.Val1155Ala)
c.3233T>C (p.Val1078Ala)
c.3134T>C (p.Val1045Ala)
c.2315T>C (p.Val772Ala)
n.3866T>C
13g.51939103A>TCA388023949ATP7Bc.*1297T>A (n.*1297T>A)
c.*2391T>A (n.*2391T>A)
c.3026T>A (p.Val1009Glu)
c.3647T>A (p.Val1216Glu)
c.3314T>A (p.Val1105Glu)
c.3395T>A (p.Val1132Glu)
n.888T>A
c.3413T>A (p.Val1138Glu)
n.3786T>A
n.513T>A
c.2582T>A (p.Val861Glu)
c.2357T>A (p.Val786Glu)
c.3452T>A (p.Val1151Glu)
c.1425T>A
c.*748T>A (n.*748T>A)
n.4391T>A
n.2992T>A
c.3503T>A (p.Val1168Glu)
c.3551T>A (p.Val1184Glu)
c.3611T>A (p.Val1204Glu)
c.3161T>A (p.Val1054Glu)
c.1463T>A (p.Val488Glu)
c.1280T>A (p.Val427Glu)
c.3512T>A (p.Val1171Glu)
c.3464T>A (p.Val1155Glu)
c.3233T>A (p.Val1078Glu)
c.3134T>A (p.Val1045Glu)
c.2315T>A (p.Val772Glu)
n.3866T>A
13g.51939104C>ACA388023954ATP7Bc.*1296G>T (n.*1296G>T)
c.*2390G>T (n.*2390G>T)
c.3025G>T (p.Val1009Leu)
c.3646G>T (p.Val1216Leu)
c.3313G>T (p.Val1105Leu)
c.3394G>T (p.Val1132Leu)
n.887G>T
c.3412G>T (p.Val1138Leu)
n.3785G>T
n.512G>T
c.2581G>T (p.Val861Leu)
c.2356G>T (p.Val786Leu)
c.3451G>T (p.Val1151Leu)
c.1424G>T
c.*747G>T (n.*747G>T)
n.4390G>T
n.2991G>T
c.3502G>T (p.Val1168Leu)
c.3550G>T (p.Val1184Leu)
c.3610G>T (p.Val1204Leu)
c.3160G>T (p.Val1054Leu)
c.1462G>T (p.Val488Leu)
c.1279G>T (p.Val427Leu)
c.3511G>T (p.Val1171Leu)
c.3463G>T (p.Val1155Leu)
c.3232G>T (p.Val1078Leu)
c.3133G>T (p.Val1045Leu)
c.2314G>T (p.Val772Leu)
n.3865G>T
13g.51939104C=CA2091556770ATP7Bc.*1296G= (n.*1296G=)
c.*2390G= (n.*2390G=)
c.3025G= (p.Val1009=)
c.3646G= (p.Val1216=)
c.3313G= (p.Val1105=)
c.3394G= (p.Val1132=)
n.887G=
c.3412G= (p.Val1138=)
n.3785G=
n.512G=
c.2581G= (p.Val861=)
c.2356G= (p.Val786=)
c.3451G= (p.Val1151=)
c.1424G=
c.*747G= (n.*747G=)
n.4390G=
n.2991G=
c.3502G= (p.Val1168=)
c.3550G= (p.Val1184=)
c.3610G= (p.Val1204=)
c.3160G= (p.Val1054=)
c.1462G= (p.Val488=)
c.1279G= (p.Val427=)
c.3511G= (p.Val1171=)
c.3463G= (p.Val1155=)
c.3232G= (p.Val1078=)
c.3133G= (p.Val1045=)
c.2314G= (p.Val772=)
n.3865G=
13g.51939104C>GCA388023956ATP7Bc.*1296G>C (n.*1296G>C)
c.*2390G>C (n.*2390G>C)
c.3025G>C (p.Val1009Leu)
c.3646G>C (p.Val1216Leu)
c.3313G>C (p.Val1105Leu)
c.3394G>C (p.Val1132Leu)
n.887G>C
c.3412G>C (p.Val1138Leu)
n.3785G>C
n.512G>C
c.2581G>C (p.Val861Leu)
c.2356G>C (p.Val786Leu)
c.3451G>C (p.Val1151Leu)
c.1424G>C
c.*747G>C (n.*747G>C)
n.4390G>C
n.2991G>C
c.3502G>C (p.Val1168Leu)
c.3550G>C (p.Val1184Leu)
c.3610G>C (p.Val1204Leu)
c.3160G>C (p.Val1054Leu)
c.1462G>C (p.Val488Leu)
c.1279G>C (p.Val427Leu)
c.3511G>C (p.Val1171Leu)
c.3463G>C (p.Val1155Leu)
c.3232G>C (p.Val1078Leu)
c.3133G>C (p.Val1045Leu)
c.2314G>C (p.Val772Leu)
n.3865G>C
 gnomAD v4
13g.51939104C>TCA274052ATP7Bc.*1296G>A (n.*1296G>A)
c.*2390G>A (n.*2390G>A)
c.3025G>A (p.Val1009Met)
c.3646G>A (p.Val1216Met)
c.3313G>A (p.Val1105Met)
c.3394G>A (p.Val1132Met)
n.887G>A
c.3412G>A (p.Val1138Met)
n.3785G>A
n.512G>A
c.2581G>A (p.Val861Met)
c.2356G>A (p.Val786Met)
c.3451G>A (p.Val1151Met)
c.1424G>A
c.*747G>A (n.*747G>A)
n.4390G>A
n.2991G>A
c.3502G>A (p.Val1168Met)
c.3550G>A (p.Val1184Met)
c.3610G>A (p.Val1204Met)
c.3160G>A (p.Val1054Met)
c.1462G>A (p.Val488Met)
c.1279G>A (p.Val427Met)
c.3511G>A (p.Val1171Met)
c.3463G>A (p.Val1155Met)
c.3232G>A (p.Val1078Met)
c.3133G>A (p.Val1045Met)
c.2314G>A (p.Val772Met)
n.3865G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939105G>ACA6988616ATP7Bc.*1295C>T (n.*1295C>T)
c.*2389C>T (n.*2389C>T)
c.3024C>T (p.Asp1008=)
c.3645C>T (p.Asp1215=)
c.3312C>T (p.Asp1104=)
c.3393C>T (p.Asp1131=)
n.886C>T
c.3411C>T (p.Asp1137=)
n.3784C>T
n.511C>T
c.2580C>T (p.Asp860=)
c.2355C>T (p.Asp785=)
c.3450C>T (p.Asp1150=)
c.1423C>T
c.*746C>T (n.*746C>T)
n.4389C>T
n.2990C>T
c.3501C>T (p.Asp1167=)
c.3549C>T (p.Asp1183=)
c.3609C>T (p.Asp1203=)
c.3159C>T (p.Asp1053=)
c.1461C>T (p.Asp487=)
c.1278C>T (p.Asp426=)
c.3510C>T (p.Asp1170=)
c.3462C>T (p.Asp1154=)
c.3231C>T (p.Asp1077=)
c.3132C>T (p.Asp1044=)
c.2313C>T (p.Asp771=)
n.3864C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939105G>CCA388023961ATP7Bc.*1295C>G (n.*1295C>G)
c.*2389C>G (n.*2389C>G)
c.3024C>G (p.Asp1008Glu)
c.3645C>G (p.Asp1215Glu)
c.3312C>G (p.Asp1104Glu)
c.3393C>G (p.Asp1131Glu)
n.886C>G
c.3411C>G (p.Asp1137Glu)
n.3784C>G
n.511C>G
c.2580C>G (p.Asp860Glu)
c.2355C>G (p.Asp785Glu)
c.3450C>G (p.Asp1150Glu)
c.1423C>G
c.*746C>G (n.*746C>G)
n.4389C>G
n.2990C>G
c.3501C>G (p.Asp1167Glu)
c.3549C>G (p.Asp1183Glu)
c.3609C>G (p.Asp1203Glu)
c.3159C>G (p.Asp1053Glu)
c.1461C>G (p.Asp487Glu)
c.1278C>G (p.Asp426Glu)
c.3510C>G (p.Asp1170Glu)
c.3462C>G (p.Asp1154Glu)
c.3231C>G (p.Asp1077Glu)
c.3132C>G (p.Asp1044Glu)
c.2313C>G (p.Asp771Glu)
n.3864C>G
13g.51939105G=CA2091556776ATP7Bc.*1295C= (n.*1295C=)
c.*2389C= (n.*2389C=)
c.3024C= (p.Asp1008=)
c.3645C= (p.Asp1215=)
c.3312C= (p.Asp1104=)
c.3393C= (p.Asp1131=)
n.886C=
c.3411C= (p.Asp1137=)
n.3784C=
n.511C=
c.2580C= (p.Asp860=)
c.2355C= (p.Asp785=)
c.3450C= (p.Asp1150=)
c.1423C=
c.*746C= (n.*746C=)
n.4389C=
n.2990C=
c.3501C= (p.Asp1167=)
c.3549C= (p.Asp1183=)
c.3609C= (p.Asp1203=)
c.3159C= (p.Asp1053=)
c.1461C= (p.Asp487=)
c.1278C= (p.Asp426=)
c.3510C= (p.Asp1170=)
c.3462C= (p.Asp1154=)
c.3231C= (p.Asp1077=)
c.3132C= (p.Asp1044=)
c.2313C= (p.Asp771=)
n.3864C=
13g.51939105G>TCA388023962ATP7Bc.*1295C>A (n.*1295C>A)
c.*2389C>A (n.*2389C>A)
c.3024C>A (p.Asp1008Glu)
c.3645C>A (p.Asp1215Glu)
c.3312C>A (p.Asp1104Glu)
c.3393C>A (p.Asp1131Glu)
n.886C>A
c.3411C>A (p.Asp1137Glu)
n.3784C>A
n.511C>A
c.2580C>A (p.Asp860Glu)
c.2355C>A (p.Asp785Glu)
c.3450C>A (p.Asp1150Glu)
c.1423C>A
c.*746C>A (n.*746C>A)
n.4389C>A
n.2990C>A
c.3501C>A (p.Asp1167Glu)
c.3549C>A (p.Asp1183Glu)
c.3609C>A (p.Asp1203Glu)
c.3159C>A (p.Asp1053Glu)
c.1461C>A (p.Asp487Glu)
c.1278C>A (p.Asp426Glu)
c.3510C>A (p.Asp1170Glu)
c.3462C>A (p.Asp1154Glu)
c.3231C>A (p.Asp1077Glu)
c.3132C>A (p.Asp1044Glu)
c.2313C>A (p.Asp771Glu)
n.3864C>A
13g.51939106T>ACA388023973ATP7Bc.*1294A>T (n.*1294A>T)
c.*2388A>T (n.*2388A>T)
c.3023A>T (p.Asp1008Val)
c.3644A>T (p.Asp1215Val)
c.3311A>T (p.Asp1104Val)
c.3392A>T (p.Asp1131Val)
n.885A>T
c.3410A>T (p.Asp1137Val)
n.3783A>T
n.510A>T
c.2579A>T (p.Asp860Val)
c.2354A>T (p.Asp785Val)
c.3449A>T (p.Asp1150Val)
c.1422A>T
c.*745A>T (n.*745A>T)
n.4388A>T
n.2989A>T
c.3500A>T (p.Asp1167Val)
c.3548A>T (p.Asp1183Val)
c.3608A>T (p.Asp1203Val)
c.3158A>T (p.Asp1053Val)
c.1460A>T (p.Asp487Val)
c.1277A>T (p.Asp426Val)
c.3509A>T (p.Asp1170Val)
c.3461A>T (p.Asp1154Val)
c.3230A>T (p.Asp1077Val)
c.3131A>T (p.Asp1044Val)
c.2312A>T (p.Asp771Val)
n.3863A>T
13g.51939106T>CCA388023964ATP7Bc.*1294A>G (n.*1294A>G)
c.*2388A>G (n.*2388A>G)
c.3023A>G (p.Asp1008Gly)
c.3644A>G (p.Asp1215Gly)
c.3311A>G (p.Asp1104Gly)
c.3392A>G (p.Asp1131Gly)
n.885A>G
c.3410A>G (p.Asp1137Gly)
n.3783A>G
n.510A>G
c.2579A>G (p.Asp860Gly)
c.2354A>G (p.Asp785Gly)
c.3449A>G (p.Asp1150Gly)
c.1422A>G
c.*745A>G (n.*745A>G)
n.4388A>G
n.2989A>G
c.3500A>G (p.Asp1167Gly)
c.3548A>G (p.Asp1183Gly)
c.3608A>G (p.Asp1203Gly)
c.3158A>G (p.Asp1053Gly)
c.1460A>G (p.Asp487Gly)
c.1277A>G (p.Asp426Gly)
c.3509A>G (p.Asp1170Gly)
c.3461A>G (p.Asp1154Gly)
c.3230A>G (p.Asp1077Gly)
c.3131A>G (p.Asp1044Gly)
c.2312A>G (p.Asp771Gly)
n.3863A>G
 ClinVar dbSNP
13g.51939106T>GCA388023963ATP7Bc.*1294A>C (n.*1294A>C)
c.*2388A>C (n.*2388A>C)
c.3023A>C (p.Asp1008Ala)
c.3644A>C (p.Asp1215Ala)
c.3311A>C (p.Asp1104Ala)
c.3392A>C (p.Asp1131Ala)
n.885A>C
c.3410A>C (p.Asp1137Ala)
n.3783A>C
n.510A>C
c.2579A>C (p.Asp860Ala)
c.2354A>C (p.Asp785Ala)
c.3449A>C (p.Asp1150Ala)
c.1422A>C
c.*745A>C (n.*745A>C)
n.4388A>C
n.2989A>C
c.3500A>C (p.Asp1167Ala)
c.3548A>C (p.Asp1183Ala)
c.3608A>C (p.Asp1203Ala)
c.3158A>C (p.Asp1053Ala)
c.1460A>C (p.Asp487Ala)
c.1277A>C (p.Asp426Ala)
c.3509A>C (p.Asp1170Ala)
c.3461A>C (p.Asp1154Ala)
c.3230A>C (p.Asp1077Ala)
c.3131A>C (p.Asp1044Ala)
c.2312A>C (p.Asp771Ala)
n.3863A>C
13g.51939106T=CA2091556779ATP7Bc.*1294A= (n.*1294A=)
c.*2388A= (n.*2388A=)
c.3023A= (p.Asp1008=)
c.3644A= (p.Asp1215=)
c.3311A= (p.Asp1104=)
c.3392A= (p.Asp1131=)
n.885A=
c.3410A= (p.Asp1137=)
n.3783A=
n.510A=
c.2579A= (p.Asp860=)
c.2354A= (p.Asp785=)
c.3449A= (p.Asp1150=)
c.1422A=
c.*745A= (n.*745A=)
n.4388A=
n.2989A=
c.3500A= (p.Asp1167=)
c.3548A= (p.Asp1183=)
c.3608A= (p.Asp1203=)
c.3158A= (p.Asp1053=)
c.1460A= (p.Asp487=)
c.1277A= (p.Asp426=)
c.3509A= (p.Asp1170=)
c.3461A= (p.Asp1154=)
c.3230A= (p.Asp1077=)
c.3131A= (p.Asp1044=)
c.2312A= (p.Asp771=)
n.3863A=
13g.51939107C>ACA388023976ATP7Bc.*1293G>T (n.*1293G>T)
c.*2387G>T (n.*2387G>T)
c.3022G>T (p.Asp1008Tyr)
c.3643G>T (p.Asp1215Tyr)
c.3310G>T (p.Asp1104Tyr)
c.3391G>T (p.Asp1131Tyr)
n.884G>T
c.3409G>T (p.Asp1137Tyr)
n.3782G>T
n.509G>T
c.2578G>T (p.Asp860Tyr)
c.2353G>T (p.Asp785Tyr)
c.3448G>T (p.Asp1150Tyr)
c.1421G>T
c.*744G>T (n.*744G>T)
n.4387G>T
n.2988G>T
c.3499G>T (p.Asp1167Tyr)
c.3547G>T (p.Asp1183Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3157G>T (p.Asp1053Tyr)
c.1459G>T (p.Asp487Tyr)
c.1276G>T (p.Asp426Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3460G>T (p.Asp1154Tyr)
c.3229G>T (p.Asp1077Tyr)
c.3130G>T (p.Asp1044Tyr)
c.2311G>T (p.Asp771Tyr)
n.3862G>T
13g.51939107C>GCA388023980ATP7Bc.*1293G>C (n.*1293G>C)
c.*2387G>C (n.*2387G>C)
c.3022G>C (p.Asp1008His)
c.3643G>C (p.Asp1215His)
c.3310G>C (p.Asp1104His)
c.3391G>C (p.Asp1131His)
n.884G>C
c.3409G>C (p.Asp1137His)
n.3782G>C
n.509G>C
c.2578G>C (p.Asp860His)
c.2353G>C (p.Asp785His)
c.3448G>C (p.Asp1150His)
c.1421G>C
c.*744G>C (n.*744G>C)
n.4387G>C
n.2988G>C
c.3499G>C (p.Asp1167His)
c.3547G>C (p.Asp1183His)
c.3607G>C (p.Asp1203His)
c.3157G>C (p.Asp1053His)
c.1459G>C (p.Asp487His)
c.1276G>C (p.Asp426His)
c.3508G>C (p.Asp1170His)
c.3460G>C (p.Asp1154His)
c.3229G>C (p.Asp1077His)
c.3130G>C (p.Asp1044His)
c.2311G>C (p.Asp771His)
n.3862G>C
13g.51939107C>TCA388023978ATP7Bc.*1293G>A (n.*1293G>A)
c.*2387G>A (n.*2387G>A)
c.3022G>A (p.Asp1008Asn)
c.3643G>A (p.Asp1215Asn)
c.3310G>A (p.Asp1104Asn)
c.3391G>A (p.Asp1131Asn)
n.884G>A
c.3409G>A (p.Asp1137Asn)
n.3782G>A
n.509G>A
c.2578G>A (p.Asp860Asn)
c.2353G>A (p.Asp785Asn)
c.3448G>A (p.Asp1150Asn)
c.1421G>A
c.*744G>A (n.*744G>A)
n.4387G>A
n.2988G>A
c.3499G>A (p.Asp1167Asn)
c.3547G>A (p.Asp1183Asn)
c.3607G>A (p.Asp1203Asn)
c.3157G>A (p.Asp1053Asn)
c.1459G>A (p.Asp487Asn)
c.1276G>A (p.Asp426Asn)
c.3508G>A (p.Asp1170Asn)
c.3460G>A (p.Asp1154Asn)
c.3229G>A (p.Asp1077Asn)
c.3130G>A (p.Asp1044Asn)
c.2311G>A (p.Asp771Asn)
n.3862G>A
 COSMIC
13g.51939108C>ACA483893752ATP7Bc.*1292G>T (n.*1292G>T)
c.*2386G>T (n.*2386G>T)
c.3021G>T (p.Val1007=)
c.3642G>T (p.Val1214=)
c.3309G>T (p.Val1103=)
c.3390G>T (p.Val1130=)
n.883G>T
c.3408G>T (p.Val1136=)
n.3781G>T
n.508G>T
c.2577G>T (p.Val859=)
c.2352G>T (p.Val784=)
c.3447G>T (p.Val1149=)
c.1420G>T
c.*743G>T (n.*743G>T)
n.4386G>T
n.2987G>T
c.3498G>T (p.Val1166=)
c.3546G>T (p.Val1182=)
c.3606G>T (p.Val1202=)
c.3156G>T (p.Val1052=)
c.1458G>T (p.Val486=)
c.1275G>T (p.Val425=)
c.3507G>T (p.Val1169=)
c.3459G>T (p.Val1153=)
c.3228G>T (p.Val1076=)
c.3129G>T (p.Val1043=)
c.2310G>T (p.Val770=)
n.3861G>T
13g.51939108C=CA2091556783ATP7Bc.*1292G= (n.*1292G=)
c.*2386G= (n.*2386G=)
c.3021G= (p.Val1007=)
c.3642G= (p.Val1214=)
c.3309G= (p.Val1103=)
c.3390G= (p.Val1130=)
n.883G=
c.3408G= (p.Val1136=)
n.3781G=
n.508G=
c.2577G= (p.Val859=)
c.2352G= (p.Val784=)
c.3447G= (p.Val1149=)
c.1420G=
c.*743G= (n.*743G=)
n.4386G=
n.2987G=
c.3498G= (p.Val1166=)
c.3546G= (p.Val1182=)
c.3606G= (p.Val1202=)
c.3156G= (p.Val1052=)
c.1458G= (p.Val486=)
c.1275G= (p.Val425=)
c.3507G= (p.Val1169=)
c.3459G= (p.Val1153=)
c.3228G= (p.Val1076=)
c.3129G= (p.Val1043=)
c.2310G= (p.Val770=)
n.3861G=
13g.51939108C>GCA483893753ATP7Bc.*1292G>C (n.*1292G>C)
c.*2386G>C (n.*2386G>C)
c.3021G>C (p.Val1007=)
c.3642G>C (p.Val1214=)
c.3309G>C (p.Val1103=)
c.3390G>C (p.Val1130=)
n.883G>C
c.3408G>C (p.Val1136=)
n.3781G>C
n.508G>C
c.2577G>C (p.Val859=)
c.2352G>C (p.Val784=)
c.3447G>C (p.Val1149=)
c.1420G>C
c.*743G>C (n.*743G>C)
n.4386G>C
n.2987G>C
c.3498G>C (p.Val1166=)
c.3546G>C (p.Val1182=)
c.3606G>C (p.Val1202=)
c.3156G>C (p.Val1052=)
c.1458G>C (p.Val486=)
c.1275G>C (p.Val425=)
c.3507G>C (p.Val1169=)
c.3459G>C (p.Val1153=)
c.3228G>C (p.Val1076=)
c.3129G>C (p.Val1043=)
c.2310G>C (p.Val770=)
n.3861G>C
 gnomAD v4
13g.51939108C>TCA483893754ATP7Bc.*1292G>A (n.*1292G>A)
c.*2386G>A (n.*2386G>A)
c.3021G>A (p.Val1007=)
c.3642G>A (p.Val1214=)
c.3309G>A (p.Val1103=)
c.3390G>A (p.Val1130=)
n.883G>A
c.3408G>A (p.Val1136=)
n.3781G>A
n.508G>A
c.2577G>A (p.Val859=)
c.2352G>A (p.Val784=)
c.3447G>A (p.Val1149=)
c.1420G>A
c.*743G>A (n.*743G>A)
n.4386G>A
n.2987G>A
c.3498G>A (p.Val1166=)
c.3546G>A (p.Val1182=)
c.3606G>A (p.Val1202=)
c.3156G>A (p.Val1052=)
c.1458G>A (p.Val486=)
c.1275G>A (p.Val425=)
c.3507G>A (p.Val1169=)
c.3459G>A (p.Val1153=)
c.3228G>A (p.Val1076=)
c.3129G>A (p.Val1043=)
c.2310G>A (p.Val770=)
n.3861G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51939111_51939112delCA2695218773ATP7Bc.*1291_*1292del (n.*1291_*1292del)
c.*2385_*2386del (n.*2385_*2386del)
c.3020_3021del (p.Val1007GlyfsTer?)
c.3641_3642del (p.Val1214GlyfsTer?)
c.3308_3309del (p.Val1103GlyfsTer?)
c.3389_3390del (p.Val1130GlyfsTer?)
n.882_883del
c.3407_3408del (p.Val1136GlyfsTer?)
n.3780_3781del
n.507_508del
c.2576_2577del (p.Val859GlyfsTer?)
c.2351_2352del (p.Val784GlyfsTer?)
c.3446_3447del (p.Val1149GlyfsTer?)
c.1419_1420del
c.*742_*743del (n.*742_*743del)
n.4385_4386del
n.2986_2987del
c.3497_3498del (p.Val1166GlyfsTer?)
c.3545_3546del (p.Val1182GlyfsTer?)
c.3605_3606del (p.Val1202GlyfsTer?)
c.3155_3156del (p.Val1052GlyfsTer?)
c.1457_1458del (p.Val486GlyfsTer?)
c.1274_1275del (p.Val425GlyfsTer?)
c.3506_3507del (p.Val1169GlyfsTer?)
c.3458_3459del (p.Val1153GlyfsTer?)
c.3227_3228del (p.Val1076GlyfsTer?)
c.3128_3129del (p.Val1043GlyfsTer?)
c.2309_2310del (p.Val770GlyfsTer?)
n.3860_3861del
13g.51939109A>CCA388023982ATP7Bc.*1291T>G (n.*1291T>G)
c.*2385T>G (n.*2385T>G)
c.3020T>G (p.Val1007Gly)
c.3641T>G (p.Val1214Gly)
c.3308T>G (p.Val1103Gly)
c.3389T>G (p.Val1130Gly)
n.882T>G
c.3407T>G (p.Val1136Gly)
n.3780T>G
n.507T>G
c.2576T>G (p.Val859Gly)
c.2351T>G (p.Val784Gly)
c.3446T>G (p.Val1149Gly)
c.1419T>G
c.*742T>G (n.*742T>G)
n.4385T>G
n.2986T>G
c.3497T>G (p.Val1166Gly)
c.3545T>G (p.Val1182Gly)
c.3605T>G (p.Val1202Gly)
c.3155T>G (p.Val1052Gly)
c.1457T>G (p.Val486Gly)
c.1274T>G (p.Val425Gly)
c.3506T>G (p.Val1169Gly)
c.3458T>G (p.Val1153Gly)
c.3227T>G (p.Val1076Gly)
c.3128T>G (p.Val1043Gly)
c.2309T>G (p.Val770Gly)
n.3860T>G
13g.51939109A>GCA388023984ATP7Bc.*1291T>C (n.*1291T>C)
c.*2385T>C (n.*2385T>C)
c.3020T>C (p.Val1007Ala)
c.3641T>C (p.Val1214Ala)
c.3308T>C (p.Val1103Ala)
c.3389T>C (p.Val1130Ala)
n.882T>C
c.3407T>C (p.Val1136Ala)
n.3780T>C
n.507T>C
c.2576T>C (p.Val859Ala)
c.2351T>C (p.Val784Ala)
c.3446T>C (p.Val1149Ala)
c.1419T>C
c.*742T>C (n.*742T>C)
n.4385T>C
n.2986T>C
c.3497T>C (p.Val1166Ala)
c.3545T>C (p.Val1182Ala)
c.3605T>C (p.Val1202Ala)
c.3155T>C (p.Val1052Ala)
c.1457T>C (p.Val486Ala)
c.1274T>C (p.Val425Ala)
c.3506T>C (p.Val1169Ala)
c.3458T>C (p.Val1153Ala)
c.3227T>C (p.Val1076Ala)
c.3128T>C (p.Val1043Ala)
c.2309T>C (p.Val770Ala)
n.3860T>C
13g.51939109A>TCA388023986ATP7Bc.*1291T>A (n.*1291T>A)
c.*2385T>A (n.*2385T>A)
c.3020T>A (p.Val1007Glu)
c.3641T>A (p.Val1214Glu)
c.3308T>A (p.Val1103Glu)
c.3389T>A (p.Val1130Glu)
n.882T>A
c.3407T>A (p.Val1136Glu)
n.3780T>A
n.507T>A
c.2576T>A (p.Val859Glu)
c.2351T>A (p.Val784Glu)
c.3446T>A (p.Val1149Glu)
c.1419T>A
c.*742T>A (n.*742T>A)
n.4385T>A
n.2986T>A
c.3497T>A (p.Val1166Glu)
c.3545T>A (p.Val1182Glu)
c.3605T>A (p.Val1202Glu)
c.3155T>A (p.Val1052Glu)
c.1457T>A (p.Val486Glu)
c.1274T>A (p.Val425Glu)
c.3506T>A (p.Val1169Glu)
c.3458T>A (p.Val1153Glu)
c.3227T>A (p.Val1076Glu)
c.3128T>A (p.Val1043Glu)
c.2309T>A (p.Val770Glu)
n.3860T>A
13g.51939110C>ACA388023987ATP7Bc.*1290G>T (n.*1290G>T)
c.*2384G>T (n.*2384G>T)
c.3019G>T (p.Val1007Leu)
c.3640G>T (p.Val1214Leu)
c.3307G>T (p.Val1103Leu)
c.3388G>T (p.Val1130Leu)
n.881G>T
c.3406G>T (p.Val1136Leu)
n.3779G>T
n.506G>T
c.2575G>T (p.Val859Leu)
c.2350G>T (p.Val784Leu)
c.3445G>T (p.Val1149Leu)
c.1418G>T
c.*741G>T (n.*741G>T)
n.4384G>T
n.2985G>T
c.3496G>T (p.Val1166Leu)
c.3544G>T (p.Val1182Leu)
c.3604G>T (p.Val1202Leu)
c.3154G>T (p.Val1052Leu)
c.1456G>T (p.Val486Leu)
c.1273G>T (p.Val425Leu)
c.3505G>T (p.Val1169Leu)
c.3457G>T (p.Val1153Leu)
c.3226G>T (p.Val1076Leu)
c.3127G>T (p.Val1043Leu)
c.2308G>T (p.Val770Leu)
n.3859G>T
13g.51939110C>GCA388023990ATP7Bc.*1290G>C (n.*1290G>C)
c.*2384G>C (n.*2384G>C)
c.3019G>C (p.Val1007Leu)
c.3640G>C (p.Val1214Leu)
c.3307G>C (p.Val1103Leu)
c.3388G>C (p.Val1130Leu)
n.881G>C
c.3406G>C (p.Val1136Leu)
n.3779G>C
n.506G>C
c.2575G>C (p.Val859Leu)
c.2350G>C (p.Val784Leu)
c.3445G>C (p.Val1149Leu)
c.1418G>C
c.*741G>C (n.*741G>C)
n.4384G>C
n.2985G>C
c.3496G>C (p.Val1166Leu)
c.3544G>C (p.Val1182Leu)
c.3604G>C (p.Val1202Leu)
c.3154G>C (p.Val1052Leu)
c.1456G>C (p.Val486Leu)
c.1273G>C (p.Val425Leu)
c.3505G>C (p.Val1169Leu)
c.3457G>C (p.Val1153Leu)
c.3226G>C (p.Val1076Leu)
c.3127G>C (p.Val1043Leu)
c.2308G>C (p.Val770Leu)
n.3859G>C
13g.51939110C>TCA388023994ATP7Bc.*1290G>A (n.*1290G>A)
c.*2384G>A (n.*2384G>A)
c.3019G>A (p.Val1007Met)
c.3640G>A (p.Val1214Met)
c.3307G>A (p.Val1103Met)
c.3388G>A (p.Val1130Met)
n.881G>A
c.3406G>A (p.Val1136Met)
n.3779G>A
n.506G>A
c.2575G>A (p.Val859Met)
c.2350G>A (p.Val784Met)
c.3445G>A (p.Val1149Met)
c.1418G>A
c.*741G>A (n.*741G>A)
n.4384G>A
n.2985G>A
c.3496G>A (p.Val1166Met)
c.3544G>A (p.Val1182Met)
c.3604G>A (p.Val1202Met)
c.3154G>A (p.Val1052Met)
c.1456G>A (p.Val486Met)
c.1273G>A (p.Val425Met)
c.3505G>A (p.Val1169Met)
c.3457G>A (p.Val1153Met)
c.3226G>A (p.Val1076Met)
c.3127G>A (p.Val1043Met)
c.2308G>A (p.Val770Met)
n.3859G>A
13g.51939111A=CA2091556786ATP7Bc.*1289T= (n.*1289T=)
c.*2383T= (n.*2383T=)
c.3018T= (p.Gly1006=)
c.3639T= (p.Gly1213=)
c.3306T= (p.Gly1102=)
c.3387T= (p.Gly1129=)
n.880T=
c.3405T= (p.Gly1135=)
n.3778T=
n.505T=
c.2574T= (p.Gly858=)
c.2349T= (p.Gly783=)
c.3444T= (p.Gly1148=)
c.1417T=
c.*740T= (n.*740T=)
n.4383T=
n.2984T=
c.3495T= (p.Gly1165=)
c.3543T= (p.Gly1181=)
c.3603T= (p.Gly1201=)
c.3153T= (p.Gly1051=)
c.1455T= (p.Gly485=)
c.1272T= (p.Gly424=)
c.3504T= (p.Gly1168=)
c.3456T= (p.Gly1152=)
c.3225T= (p.Gly1075=)
c.3126T= (p.Gly1042=)
c.2307T= (p.Gly769=)
n.3858T=
13g.51939111A>CCA483893757ATP7Bc.*1289T>G (n.*1289T>G)
c.*2383T>G (n.*2383T>G)
c.3018T>G (p.Gly1006=)
c.3639T>G (p.Gly1213=)
c.3306T>G (p.Gly1102=)
c.3387T>G (p.Gly1129=)
n.880T>G
c.3405T>G (p.Gly1135=)
n.3778T>G
n.505T>G
c.2574T>G (p.Gly858=)
c.2349T>G (p.Gly783=)
c.3444T>G (p.Gly1148=)
c.1417T>G
c.*740T>G (n.*740T>G)
n.4383T>G
n.2984T>G
c.3495T>G (p.Gly1165=)
c.3543T>G (p.Gly1181=)
c.3603T>G (p.Gly1201=)
c.3153T>G (p.Gly1051=)
c.1455T>G (p.Gly485=)
c.1272T>G (p.Gly424=)
c.3504T>G (p.Gly1168=)
c.3456T>G (p.Gly1152=)
c.3225T>G (p.Gly1075=)
c.3126T>G (p.Gly1042=)
c.2307T>G (p.Gly769=)
n.3858T>G
 ClinVar dbSNP gnomAD v4
13g.51939111A>GCA483893758ATP7Bc.*1289T>C (n.*1289T>C)
c.*2383T>C (n.*2383T>C)
c.3018T>C (p.Gly1006=)
c.3639T>C (p.Gly1213=)
c.3306T>C (p.Gly1102=)
c.3387T>C (p.Gly1129=)
n.880T>C
c.3405T>C (p.Gly1135=)
n.3778T>C
n.505T>C
c.2574T>C (p.Gly858=)
c.2349T>C (p.Gly783=)
c.3444T>C (p.Gly1148=)
c.1417T>C
c.*740T>C (n.*740T>C)
n.4383T>C
n.2984T>C
c.3495T>C (p.Gly1165=)
c.3543T>C (p.Gly1181=)
c.3603T>C (p.Gly1201=)
c.3153T>C (p.Gly1051=)
c.1455T>C (p.Gly485=)
c.1272T>C (p.Gly424=)
c.3504T>C (p.Gly1168=)
c.3456T>C (p.Gly1152=)
c.3225T>C (p.Gly1075=)
c.3126T>C (p.Gly1042=)
c.2307T>C (p.Gly769=)
n.3858T>C
13g.51939111A>TCA483893759ATP7Bc.*1289T>A (n.*1289T>A)
c.*2383T>A (n.*2383T>A)
c.3018T>A (p.Gly1006=)
c.3639T>A (p.Gly1213=)
c.3306T>A (p.Gly1102=)
c.3387T>A (p.Gly1129=)
n.880T>A
c.3405T>A (p.Gly1135=)
n.3778T>A
n.505T>A
c.2574T>A (p.Gly858=)
c.2349T>A (p.Gly783=)
c.3444T>A (p.Gly1148=)
c.1417T>A
c.*740T>A (n.*740T>A)
n.4383T>A
n.2984T>A
c.3495T>A (p.Gly1165=)
c.3543T>A (p.Gly1181=)
c.3603T>A (p.Gly1201=)
c.3153T>A (p.Gly1051=)
c.1455T>A (p.Gly485=)
c.1272T>A (p.Gly424=)
c.3504T>A (p.Gly1168=)
c.3456T>A (p.Gly1152=)
c.3225T>A (p.Gly1075=)
c.3126T>A (p.Gly1042=)
c.2307T>A (p.Gly769=)
n.3858T>A
13g.51939112C>ACA388023996ATP7Bc.*1288G>T (n.*1288G>T)
c.*2382G>T (n.*2382G>T)
c.3017G>T (p.Gly1006Val)
c.3638G>T (p.Gly1213Val)
c.3305G>T (p.Gly1102Val)
c.3386G>T (p.Gly1129Val)
n.879G>T
c.3404G>T (p.Gly1135Val)
n.3777G>T
n.504G>T
c.2573G>T (p.Gly858Val)
c.2348G>T (p.Gly783Val)
c.3443G>T (p.Gly1148Val)
c.1416G>T
c.*739G>T (n.*739G>T)
n.4382G>T
n.2983G>T
c.3494G>T (p.Gly1165Val)
c.3542G>T (p.Gly1181Val)
c.3602G>T (p.Gly1201Val)
c.3152G>T (p.Gly1051Val)
c.1454G>T (p.Gly485Val)
c.1271G>T (p.Gly424Val)
c.3503G>T (p.Gly1168Val)
c.3455G>T (p.Gly1152Val)
c.3224G>T (p.Gly1075Val)
c.3125G>T (p.Gly1042Val)
c.2306G>T (p.Gly769Val)
n.3857G>T
 ClinVar dbSNP
13g.51939112C=CA2091556789ATP7Bc.*1288G= (n.*1288G=)
c.*2382G= (n.*2382G=)
c.3017G= (p.Gly1006=)
c.3638G= (p.Gly1213=)
c.3305G= (p.Gly1102=)
c.3386G= (p.Gly1129=)
n.879G=
c.3404G= (p.Gly1135=)
n.3777G=
n.504G=
c.2573G= (p.Gly858=)
c.2348G= (p.Gly783=)
c.3443G= (p.Gly1148=)
c.1416G=
c.*739G= (n.*739G=)
n.4382G=
n.2983G=
c.3494G= (p.Gly1165=)
c.3542G= (p.Gly1181=)
c.3602G= (p.Gly1201=)
c.3152G= (p.Gly1051=)
c.1454G= (p.Gly485=)
c.1271G= (p.Gly424=)
c.3503G= (p.Gly1168=)
c.3455G= (p.Gly1152=)
c.3224G= (p.Gly1075=)
c.3125G= (p.Gly1042=)
c.2306G= (p.Gly769=)
n.3857G=
13g.51939112C>GCA388024003ATP7Bc.*1288G>C (n.*1288G>C)
c.*2382G>C (n.*2382G>C)
c.3017G>C (p.Gly1006Ala)
c.3638G>C (p.Gly1213Ala)
c.3305G>C (p.Gly1102Ala)
c.3386G>C (p.Gly1129Ala)
n.879G>C
c.3404G>C (p.Gly1135Ala)
n.3777G>C
n.504G>C
c.2573G>C (p.Gly858Ala)
c.2348G>C (p.Gly783Ala)
c.3443G>C (p.Gly1148Ala)
c.1416G>C
c.*739G>C (n.*739G>C)
n.4382G>C
n.2983G>C
c.3494G>C (p.Gly1165Ala)
c.3542G>C (p.Gly1181Ala)
c.3602G>C (p.Gly1201Ala)
c.3152G>C (p.Gly1051Ala)
c.1454G>C (p.Gly485Ala)
c.1271G>C (p.Gly424Ala)
c.3503G>C (p.Gly1168Ala)
c.3455G>C (p.Gly1152Ala)
c.3224G>C (p.Gly1075Ala)
c.3125G>C (p.Gly1042Ala)
c.2306G>C (p.Gly769Ala)
n.3857G>C
13g.51939112C>TCA388024006ATP7Bc.*1288G>A (n.*1288G>A)
c.*2382G>A (n.*2382G>A)
c.3017G>A (p.Gly1006Asp)
c.3638G>A (p.Gly1213Asp)
c.3305G>A (p.Gly1102Asp)
c.3386G>A (p.Gly1129Asp)
n.879G>A
c.3404G>A (p.Gly1135Asp)
n.3777G>A
n.504G>A
c.2573G>A (p.Gly858Asp)
c.2348G>A (p.Gly783Asp)
c.3443G>A (p.Gly1148Asp)
c.1416G>A
c.*739G>A (n.*739G>A)
n.4382G>A
n.2983G>A
c.3494G>A (p.Gly1165Asp)
c.3542G>A (p.Gly1181Asp)
c.3602G>A (p.Gly1201Asp)
c.3152G>A (p.Gly1051Asp)
c.1454G>A (p.Gly485Asp)
c.1271G>A (p.Gly424Asp)
c.3503G>A (p.Gly1168Asp)
c.3455G>A (p.Gly1152Asp)
c.3224G>A (p.Gly1075Asp)
c.3125G>A (p.Gly1042Asp)
c.2306G>A (p.Gly769Asp)
n.3857G>A
 gnomAD v4
13g.51939113C>ACA388024009ATP7Bc.*1287G>T (n.*1287G>T)
c.*2381G>T (n.*2381G>T)
c.3016G>T (p.Gly1006Cys)
c.3637G>T (p.Gly1213Cys)
c.3304G>T (p.Gly1102Cys)
c.3385G>T (p.Gly1129Cys)
n.878G>T
c.3403G>T (p.Gly1135Cys)
n.3776G>T
n.503G>T
c.2572G>T (p.Gly858Cys)
c.2347G>T (p.Gly783Cys)
c.3442G>T (p.Gly1148Cys)
c.1415G>T
c.*738G>T (n.*738G>T)
n.4381G>T
n.2982G>T
c.3493G>T (p.Gly1165Cys)
c.3541G>T (p.Gly1181Cys)
c.3601G>T (p.Gly1201Cys)
c.3151G>T (p.Gly1051Cys)
c.1453G>T (p.Gly485Cys)
c.1270G>T (p.Gly424Cys)
c.3502G>T (p.Gly1168Cys)
c.3454G>T (p.Gly1152Cys)
c.3223G>T (p.Gly1075Cys)
c.3124G>T (p.Gly1042Cys)
c.2305G>T (p.Gly769Cys)
n.3856G>T
13g.51939113C=CA2091556795ATP7Bc.*1287G= (n.*1287G=)
c.*2381G= (n.*2381G=)
c.3016G= (p.Gly1006=)
c.3637G= (p.Gly1213=)
c.3304G= (p.Gly1102=)
c.3385G= (p.Gly1129=)
n.878G=
c.3403G= (p.Gly1135=)
n.3776G=
n.503G=
c.2572G= (p.Gly858=)
c.2347G= (p.Gly783=)
c.3442G= (p.Gly1148=)
c.1415G=
c.*738G= (n.*738G=)
n.4381G=
n.2982G=
c.3493G= (p.Gly1165=)
c.3541G= (p.Gly1181=)
c.3601G= (p.Gly1201=)
c.3151G= (p.Gly1051=)
c.1453G= (p.Gly485=)
c.1270G= (p.Gly424=)
c.3502G= (p.Gly1168=)
c.3454G= (p.Gly1152=)
c.3223G= (p.Gly1075=)
c.3124G= (p.Gly1042=)
c.2305G= (p.Gly769=)
n.3856G=
13g.51939113C>GCA388024011ATP7Bc.*1287G>C (n.*1287G>C)
c.*2381G>C (n.*2381G>C)
c.3016G>C (p.Gly1006Arg)
c.3637G>C (p.Gly1213Arg)
c.3304G>C (p.Gly1102Arg)
c.3385G>C (p.Gly1129Arg)
n.878G>C
c.3403G>C (p.Gly1135Arg)
n.3776G>C
n.503G>C
c.2572G>C (p.Gly858Arg)
c.2347G>C (p.Gly783Arg)
c.3442G>C (p.Gly1148Arg)
c.1415G>C
c.*738G>C (n.*738G>C)
n.4381G>C
n.2982G>C
c.3493G>C (p.Gly1165Arg)
c.3541G>C (p.Gly1181Arg)
c.3601G>C (p.Gly1201Arg)
c.3151G>C (p.Gly1051Arg)
c.1453G>C (p.Gly485Arg)
c.1270G>C (p.Gly424Arg)
c.3502G>C (p.Gly1168Arg)
c.3454G>C (p.Gly1152Arg)
c.3223G>C (p.Gly1075Arg)
c.3124G>C (p.Gly1042Arg)
c.2305G>C (p.Gly769Arg)
n.3856G>C
13g.51939113C>TCA6988617ATP7Bc.*1287G>A (n.*1287G>A)
c.*2381G>A (n.*2381G>A)
c.3016G>A (p.Gly1006Ser)
c.3637G>A (p.Gly1213Ser)
c.3304G>A (p.Gly1102Ser)
c.3385G>A (p.Gly1129Ser)
n.878G>A
c.3403G>A (p.Gly1135Ser)
n.3776G>A
n.503G>A
c.2572G>A (p.Gly858Ser)
c.2347G>A (p.Gly783Ser)
c.3442G>A (p.Gly1148Ser)
c.1415G>A
c.*738G>A (n.*738G>A)
n.4381G>A
n.2982G>A
c.3493G>A (p.Gly1165Ser)
c.3541G>A (p.Gly1181Ser)
c.3601G>A (p.Gly1201Ser)
c.3151G>A (p.Gly1051Ser)
c.1453G>A (p.Gly485Ser)
c.1270G>A (p.Gly424Ser)
c.3502G>A (p.Gly1168Ser)
c.3454G>A (p.Gly1152Ser)
c.3223G>A (p.Gly1075Ser)
c.3124G>A (p.Gly1042Ser)
c.2305G>A (p.Gly769Ser)
n.3856G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51939114C>ACA388024024ATP7Bc.*1286G>T (n.*1286G>T)
c.*2380G>T (n.*2380G>T)
c.3015G>T (p.Met1005Ile)
c.3636G>T (p.Met1212Ile)
c.3303G>T (p.Met1101Ile)
c.3384G>T (p.Met1128Ile)
n.877G>T
c.3402G>T (p.Met1134Ile)
n.3775G>T
n.502G>T
c.2571G>T (p.Met857Ile)
c.2346G>T (p.Met782Ile)
c.3441G>T (p.Met1147Ile)
c.1414G>T
c.*737G>T (n.*737G>T)
n.4380G>T
n.2981G>T
c.3492G>T (p.Met1164Ile)
c.3540G>T (p.Met1180Ile)
c.3600G>T (p.Met1200Ile)
c.3150G>T (p.Met1050Ile)
c.1452G>T (p.Met484Ile)
c.1269G>T (p.Met423Ile)
c.3501G>T (p.Met1167Ile)
c.3453G>T (p.Met1151Ile)
c.3222G>T (p.Met1074Ile)
c.3123G>T (p.Met1041Ile)
c.2304G>T (p.Met768Ile)
n.3855G>T
13g.51939114C>GCA388024021ATP7Bc.*1286G>C (n.*1286G>C)
c.*2380G>C (n.*2380G>C)
c.3015G>C (p.Met1005Ile)
c.3636G>C (p.Met1212Ile)
c.3303G>C (p.Met1101Ile)
c.3384G>C (p.Met1128Ile)
n.877G>C
c.3402G>C (p.Met1134Ile)
n.3775G>C
n.502G>C
c.2571G>C (p.Met857Ile)
c.2346G>C (p.Met782Ile)
c.3441G>C (p.Met1147Ile)
c.1414G>C
c.*737G>C (n.*737G>C)
n.4380G>C
n.2981G>C
c.3492G>C (p.Met1164Ile)
c.3540G>C (p.Met1180Ile)
c.3600G>C (p.Met1200Ile)
c.3150G>C (p.Met1050Ile)
c.1452G>C (p.Met484Ile)
c.1269G>C (p.Met423Ile)
c.3501G>C (p.Met1167Ile)
c.3453G>C (p.Met1151Ile)
c.3222G>C (p.Met1074Ile)
c.3123G>C (p.Met1041Ile)
c.2304G>C (p.Met768Ile)
n.3855G>C
13g.51939114C>TCA388024022ATP7Bc.*1286G>A (n.*1286G>A)
c.*2380G>A (n.*2380G>A)
c.3015G>A (p.Met1005Ile)
c.3636G>A (p.Met1212Ile)
c.3303G>A (p.Met1101Ile)
c.3384G>A (p.Met1128Ile)
n.877G>A
c.3402G>A (p.Met1134Ile)
n.3775G>A
n.502G>A
c.2571G>A (p.Met857Ile)
c.2346G>A (p.Met782Ile)
c.3441G>A (p.Met1147Ile)
c.1414G>A
c.*737G>A (n.*737G>A)
n.4380G>A
n.2981G>A
c.3492G>A (p.Met1164Ile)
c.3540G>A (p.Met1180Ile)
c.3600G>A (p.Met1200Ile)
c.3150G>A (p.Met1050Ile)
c.1452G>A (p.Met484Ile)
c.1269G>A (p.Met423Ile)
c.3501G>A (p.Met1167Ile)
c.3453G>A (p.Met1151Ile)
c.3222G>A (p.Met1074Ile)
c.3123G>A (p.Met1041Ile)
c.2304G>A (p.Met768Ile)
n.3855G>A
13g.51939115A>CCA388024038ATP7Bc.*1285T>G (n.*1285T>G)
c.*2379T>G (n.*2379T>G)
c.3014T>G (p.Met1005Arg)
c.3635T>G (p.Met1212Arg)
c.3302T>G (p.Met1101Arg)
c.3383T>G (p.Met1128Arg)
n.876T>G
c.3401T>G (p.Met1134Arg)
n.3774T>G
n.501T>G
c.2570T>G (p.Met857Arg)
c.2345T>G (p.Met782Arg)
c.3440T>G (p.Met1147Arg)
c.1413T>G
c.*736T>G (n.*736T>G)
n.4379T>G
n.2980T>G
c.3491T>G (p.Met1164Arg)
c.3539T>G (p.Met1180Arg)
c.3599T>G (p.Met1200Arg)
c.3149T>G (p.Met1050Arg)
c.1451T>G (p.Met484Arg)
c.1268T>G (p.Met423Arg)
c.3500T>G (p.Met1167Arg)
c.3452T>G (p.Met1151Arg)
c.3221T>G (p.Met1074Arg)
c.3122T>G (p.Met1041Arg)
c.2303T>G (p.Met768Arg)
n.3854T>G
13g.51939115A>GCA388024040ATP7Bc.*1285T>C (n.*1285T>C)
c.*2379T>C (n.*2379T>C)
c.3014T>C (p.Met1005Thr)
c.3635T>C (p.Met1212Thr)
c.3302T>C (p.Met1101Thr)
c.3383T>C (p.Met1128Thr)
n.876T>C
c.3401T>C (p.Met1134Thr)
n.3774T>C
n.501T>C
c.2570T>C (p.Met857Thr)
c.2345T>C (p.Met782Thr)
c.3440T>C (p.Met1147Thr)
c.1413T>C
c.*736T>C (n.*736T>C)
n.4379T>C
n.2980T>C
c.3491T>C (p.Met1164Thr)
c.3539T>C (p.Met1180Thr)
c.3599T>C (p.Met1200Thr)
c.3149T>C (p.Met1050Thr)
c.1451T>C (p.Met484Thr)
c.1268T>C (p.Met423Thr)
c.3500T>C (p.Met1167Thr)
c.3452T>C (p.Met1151Thr)
c.3221T>C (p.Met1074Thr)
c.3122T>C (p.Met1041Thr)
c.2303T>C (p.Met768Thr)
n.3854T>C
13g.51939115A>TCA388024045ATP7Bc.*1285T>A (n.*1285T>A)
c.*2379T>A (n.*2379T>A)
c.3014T>A (p.Met1005Lys)
c.3635T>A (p.Met1212Lys)
c.3302T>A (p.Met1101Lys)
c.3383T>A (p.Met1128Lys)
n.876T>A
c.3401T>A (p.Met1134Lys)
n.3774T>A
n.501T>A
c.2570T>A (p.Met857Lys)
c.2345T>A (p.Met782Lys)
c.3440T>A (p.Met1147Lys)
c.1413T>A
c.*736T>A (n.*736T>A)
n.4379T>A
n.2980T>A
c.3491T>A (p.Met1164Lys)
c.3539T>A (p.Met1180Lys)
c.3599T>A (p.Met1200Lys)
c.3149T>A (p.Met1050Lys)
c.1451T>A (p.Met484Lys)
c.1268T>A (p.Met423Lys)
c.3500T>A (p.Met1167Lys)
c.3452T>A (p.Met1151Lys)
c.3221T>A (p.Met1074Lys)
c.3122T>A (p.Met1041Lys)
c.2303T>A (p.Met768Lys)
n.3854T>A
13g.51939116T>ACA388024047ATP7Bc.*1284A>T (n.*1284A>T)
c.*2378A>T (n.*2378A>T)
c.3013A>T (p.Met1005Leu)
c.3634A>T (p.Met1212Leu)
c.3301A>T (p.Met1101Leu)
c.3382A>T (p.Met1128Leu)
n.875A>T
c.3400A>T (p.Met1134Leu)
n.3773A>T
n.500A>T
c.2569A>T (p.Met857Leu)
c.2344A>T (p.Met782Leu)
c.3439A>T (p.Met1147Leu)
c.1412A>T
c.*735A>T (n.*735A>T)
n.4378A>T
n.2979A>T
c.3490A>T (p.Met1164Leu)
c.3538A>T (p.Met1180Leu)
c.3598A>T (p.Met1200Leu)
c.3148A>T (p.Met1050Leu)
c.1450A>T (p.Met484Leu)
c.1267A>T (p.Met423Leu)
c.3499A>T (p.Met1167Leu)
c.3451A>T (p.Met1151Leu)
c.3220A>T (p.Met1074Leu)
c.3121A>T (p.Met1041Leu)
c.2302A>T (p.Met768Leu)
n.3853A>T
13g.51939116T>CCA388024050ATP7Bc.*1284A>G (n.*1284A>G)
c.*2378A>G (n.*2378A>G)
c.3013A>G (p.Met1005Val)
c.3634A>G (p.Met1212Val)
c.3301A>G (p.Met1101Val)
c.3382A>G (p.Met1128Val)
n.875A>G
c.3400A>G (p.Met1134Val)
n.3773A>G
n.500A>G
c.2569A>G (p.Met857Val)
c.2344A>G (p.Met782Val)
c.3439A>G (p.Met1147Val)
c.1412A>G
c.*735A>G (n.*735A>G)
n.4378A>G
n.2979A>G
c.3490A>G (p.Met1164Val)
c.3538A>G (p.Met1180Val)
c.3598A>G (p.Met1200Val)
c.3148A>G (p.Met1050Val)
c.1450A>G (p.Met484Val)
c.1267A>G (p.Met423Val)
c.3499A>G (p.Met1167Val)
c.3451A>G (p.Met1151Val)
c.3220A>G (p.Met1074Val)
c.3121A>G (p.Met1041Val)
c.2302A>G (p.Met768Val)
n.3853A>G
 gnomAD v4
13g.51939116T>GCA388024060ATP7Bc.*1284A>C (n.*1284A>C)
c.*2378A>C (n.*2378A>C)
c.3013A>C (p.Met1005Leu)
c.3634A>C (p.Met1212Leu)
c.3301A>C (p.Met1101Leu)
c.3382A>C (p.Met1128Leu)
n.875A>C
c.3400A>C (p.Met1134Leu)
n.3773A>C
n.500A>C
c.2569A>C (p.Met857Leu)
c.2344A>C (p.Met782Leu)
c.3439A>C (p.Met1147Leu)
c.1412A>C
c.*735A>C (n.*735A>C)
n.4378A>C
n.2979A>C
c.3490A>C (p.Met1164Leu)
c.3538A>C (p.Met1180Leu)
c.3598A>C (p.Met1200Leu)
c.3148A>C (p.Met1050Leu)
c.1450A>C (p.Met484Leu)
c.1267A>C (p.Met423Leu)
c.3499A>C (p.Met1167Leu)
c.3451A>C (p.Met1151Leu)
c.3220A>C (p.Met1074Leu)
c.3121A>C (p.Met1041Leu)
c.2302A>C (p.Met768Leu)
n.3853A>C
13g.51939117G>ACA483893763ATP7Bc.*1283C>T (n.*1283C>T)
c.*2377C>T (n.*2377C>T)
c.3012C>T (p.Ser1004=)
c.3633C>T (p.Ser1211=)
c.3300C>T (p.Ser1100=)
c.3381C>T (p.Ser1127=)
n.874C>T
c.3399C>T (p.Ser1133=)
n.3772C>T
n.499C>T
c.2568C>T (p.Ser856=)
c.2343C>T (p.Ser781=)
c.3438C>T (p.Ser1146=)
c.1411C>T
c.*734C>T (n.*734C>T)
n.4377C>T
n.2978C>T
c.3489C>T (p.Ser1163=)
c.3537C>T (p.Ser1179=)
c.3597C>T (p.Ser1199=)
c.3147C>T (p.Ser1049=)
c.1449C>T (p.Ser483=)
c.1266C>T (p.Ser422=)
c.3498C>T (p.Ser1166=)
c.3450C>T (p.Ser1150=)
c.3219C>T (p.Ser1073=)
c.3120C>T (p.Ser1040=)
c.2301C>T (p.Ser767=)
n.3852C>T
13g.51939117G>CCA388024063ATP7Bc.*1283C>G (n.*1283C>G)
c.*2377C>G (n.*2377C>G)
c.3012C>G (p.Ser1004Arg)
c.3633C>G (p.Ser1211Arg)
c.3300C>G (p.Ser1100Arg)
c.3381C>G (p.Ser1127Arg)
n.874C>G
c.3399C>G (p.Ser1133Arg)
n.3772C>G
n.499C>G
c.2568C>G (p.Ser856Arg)
c.2343C>G (p.Ser781Arg)
c.3438C>G (p.Ser1146Arg)
c.1411C>G
c.*734C>G (n.*734C>G)
n.4377C>G
n.2978C>G
c.3489C>G (p.Ser1163Arg)
c.3537C>G (p.Ser1179Arg)
c.3597C>G (p.Ser1199Arg)
c.3147C>G (p.Ser1049Arg)
c.1449C>G (p.Ser483Arg)
c.1266C>G (p.Ser422Arg)
c.3498C>G (p.Ser1166Arg)
c.3450C>G (p.Ser1150Arg)
c.3219C>G (p.Ser1073Arg)
c.3120C>G (p.Ser1040Arg)
c.2301C>G (p.Ser767Arg)
n.3852C>G
 gnomAD v4
13g.51939117G>TCA388024065ATP7Bc.*1283C>A (n.*1283C>A)
c.*2377C>A (n.*2377C>A)
c.3012C>A (p.Ser1004Arg)
c.3633C>A (p.Ser1211Arg)
c.3300C>A (p.Ser1100Arg)
c.3381C>A (p.Ser1127Arg)
n.874C>A
c.3399C>A (p.Ser1133Arg)
n.3772C>A
n.499C>A
c.2568C>A (p.Ser856Arg)
c.2343C>A (p.Ser781Arg)
c.3438C>A (p.Ser1146Arg)
c.1411C>A
c.*734C>A (n.*734C>A)
n.4377C>A
n.2978C>A
c.3489C>A (p.Ser1163Arg)
c.3537C>A (p.Ser1179Arg)
c.3597C>A (p.Ser1199Arg)
c.3147C>A (p.Ser1049Arg)
c.1449C>A (p.Ser483Arg)
c.1266C>A (p.Ser422Arg)
c.3498C>A (p.Ser1166Arg)
c.3450C>A (p.Ser1150Arg)
c.3219C>A (p.Ser1073Arg)
c.3120C>A (p.Ser1040Arg)
c.2301C>A (p.Ser767Arg)
n.3852C>A
13g.51939118C>ACA388024068ATP7Bc.*1282G>T (n.*1282G>T)
c.*2376G>T (n.*2376G>T)
c.3011G>T (p.Ser1004Ile)
c.3632G>T (p.Ser1211Ile)
c.3299G>T (p.Ser1100Ile)
c.3380G>T (p.Ser1127Ile)
n.873G>T
c.3398G>T (p.Ser1133Ile)
n.3771G>T
n.498G>T
c.2567G>T (p.Ser856Ile)
c.2342G>T (p.Ser781Ile)
c.3437G>T (p.Ser1146Ile)
c.1410G>T
c.*733G>T (n.*733G>T)
n.4376G>T
n.2977G>T
c.3488G>T (p.Ser1163Ile)
c.3536G>T (p.Ser1179Ile)
c.3596G>T (p.Ser1199Ile)
c.3146G>T (p.Ser1049Ile)
c.1448G>T (p.Ser483Ile)
c.1265G>T (p.Ser422Ile)
c.3497G>T (p.Ser1166Ile)
c.3449G>T (p.Ser1150Ile)
c.3218G>T (p.Ser1073Ile)
c.3119G>T (p.Ser1040Ile)
c.2300G>T (p.Ser767Ile)
n.3851G>T
13g.51939118C=CA2091556802ATP7Bc.*1282G= (n.*1282G=)
c.*2376G= (n.*2376G=)
c.3011G= (p.Ser1004=)
c.3632G= (p.Ser1211=)
c.3299G= (p.Ser1100=)
c.3380G= (p.Ser1127=)
n.873G=
c.3398G= (p.Ser1133=)
n.3771G=
n.498G=
c.2567G= (p.Ser856=)
c.2342G= (p.Ser781=)
c.3437G= (p.Ser1146=)
c.1410G=
c.*733G= (n.*733G=)
n.4376G=
n.2977G=
c.3488G= (p.Ser1163=)
c.3536G= (p.Ser1179=)
c.3596G= (p.Ser1199=)
c.3146G= (p.Ser1049=)
c.1448G= (p.Ser483=)
c.1265G= (p.Ser422=)
c.3497G= (p.Ser1166=)
c.3449G= (p.Ser1150=)
c.3218G= (p.Ser1073=)
c.3119G= (p.Ser1040=)
c.2300G= (p.Ser767=)
n.3851G=
13g.51939118C>GCA388024073ATP7Bc.*1282G>C (n.*1282G>C)
c.*2376G>C (n.*2376G>C)
c.3011G>C (p.Ser1004Thr)
c.3632G>C (p.Ser1211Thr)
c.3299G>C (p.Ser1100Thr)
c.3380G>C (p.Ser1127Thr)
n.873G>C
c.3398G>C (p.Ser1133Thr)
n.3771G>C
n.498G>C
c.2567G>C (p.Ser856Thr)
c.2342G>C (p.Ser781Thr)
c.3437G>C (p.Ser1146Thr)
c.1410G>C
c.*733G>C (n.*733G>C)
n.4376G>C
n.2977G>C
c.3488G>C (p.Ser1163Thr)
c.3536G>C (p.Ser1179Thr)
c.3596G>C (p.Ser1199Thr)
c.3146G>C (p.Ser1049Thr)
c.1448G>C (p.Ser483Thr)
c.1265G>C (p.Ser422Thr)
c.3497G>C (p.Ser1166Thr)
c.3449G>C (p.Ser1150Thr)
c.3218G>C (p.Ser1073Thr)
c.3119G>C (p.Ser1040Thr)
c.2300G>C (p.Ser767Thr)
n.3851G>C
 dbSNP gnomAD v3 gnomAD v4
13g.51939118C>TCA388024085ATP7Bc.*1282G>A (n.*1282G>A)
c.*2376G>A (n.*2376G>A)
c.3011G>A (p.Ser1004Asn)
c.3632G>A (p.Ser1211Asn)
c.3299G>A (p.Ser1100Asn)
c.3380G>A (p.Ser1127Asn)
n.873G>A
c.3398G>A (p.Ser1133Asn)
n.3771G>A
n.498G>A
c.2567G>A (p.Ser856Asn)
c.2342G>A (p.Ser781Asn)
c.3437G>A (p.Ser1146Asn)
c.1410G>A
c.*733G>A (n.*733G>A)
n.4376G>A
n.2977G>A
c.3488G>A (p.Ser1163Asn)
c.3536G>A (p.Ser1179Asn)
c.3596G>A (p.Ser1199Asn)
c.3146G>A (p.Ser1049Asn)
c.1448G>A (p.Ser483Asn)
c.1265G>A (p.Ser422Asn)
c.3497G>A (p.Ser1166Asn)
c.3449G>A (p.Ser1150Asn)
c.3218G>A (p.Ser1073Asn)
c.3119G>A (p.Ser1040Asn)
c.2300G>A (p.Ser767Asn)
n.3851G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51939118_51939123delCA2499222488ATP7Bc.*1277_*1282del (n.*1277_*1282del)
c.*2371_*2376del (n.*2371_*2376del)
c.3006_3011del (p.Gln1003_Ser1004del)
c.3627_3632del (p.Gln1210_Ser1211del)
c.3294_3299del (p.Gln1099_Ser1100del)
c.3375_3380del (p.Gln1126_Ser1127del)
n.868_873del
c.3393_3398del (p.Gln1132_Ser1133del)
n.3766_3771del
n.493_498del
c.2562_2567del (p.Gln855_Ser856del)
c.2337_2342del (p.Gln780_Ser781del)
c.3432_3437del (p.Gln1145_Ser1146del)
c.1405_1410del
c.*728_*733del (n.*728_*733del)
n.4371_4376del
n.2972_2977del
c.3483_3488del (p.Gln1162_Ser1163del)
c.3531_3536del (p.Gln1178_Ser1179del)
c.3591_3596del (p.Gln1198_Ser1199del)
c.3141_3146del (p.Gln1048_Ser1049del)
c.1443_1448del (p.Gln482_Ser483del)
c.1260_1265del (p.Gln421_Ser422del)
c.3492_3497del (p.Gln1165_Ser1166del)
c.3444_3449del (p.Gln1149_Ser1150del)
c.3213_3218del (p.Gln1072_Ser1073del)
c.3114_3119del (p.Gln1039_Ser1040del)
c.2295_2300del (p.Gln766_Ser767del)
n.3846_3851del
 ClinVar dbSNP
13g.51939119T>ACA388024108ATP7Bc.*1281A>T (n.*1281A>T)
c.*2375A>T (n.*2375A>T)
c.3010A>T (p.Ser1004Cys)
c.3631A>T (p.Ser1211Cys)
c.3298A>T (p.Ser1100Cys)
c.3379A>T (p.Ser1127Cys)
n.872A>T
c.3397A>T (p.Ser1133Cys)
n.3770A>T
n.497A>T
c.2566A>T (p.Ser856Cys)
c.2341A>T (p.Ser781Cys)
c.3436A>T (p.Ser1146Cys)
c.1409A>T
c.*732A>T (n.*732A>T)
n.4375A>T
n.2976A>T
c.3487A>T (p.Ser1163Cys)
c.3535A>T (p.Ser1179Cys)
c.3595A>T (p.Ser1199Cys)
c.3145A>T (p.Ser1049Cys)
c.1447A>T (p.Ser483Cys)
c.1264A>T (p.Ser422Cys)
c.3496A>T (p.Ser1166Cys)
c.3448A>T (p.Ser1150Cys)
c.3217A>T (p.Ser1073Cys)
c.3118A>T (p.Ser1040Cys)
c.2299A>T (p.Ser767Cys)
n.3850A>T
13g.51939119T>CCA388024094ATP7Bc.*1281A>G (n.*1281A>G)
c.*2375A>G (n.*2375A>G)
c.3010A>G (p.Ser1004Gly)
c.3631A>G (p.Ser1211Gly)
c.3298A>G (p.Ser1100Gly)
c.3379A>G (p.Ser1127Gly)
n.872A>G
c.3397A>G (p.Ser1133Gly)
n.3770A>G
n.497A>G
c.2566A>G (p.Ser856Gly)
c.2341A>G (p.Ser781Gly)
c.3436A>G (p.Ser1146Gly)
c.1409A>G
c.*732A>G (n.*732A>G)
n.4375A>G
n.2976A>G
c.3487A>G (p.Ser1163Gly)
c.3535A>G (p.Ser1179Gly)
c.3595A>G (p.Ser1199Gly)
c.3145A>G (p.Ser1049Gly)
c.1447A>G (p.Ser483Gly)
c.1264A>G (p.Ser422Gly)
c.3496A>G (p.Ser1166Gly)
c.3448A>G (p.Ser1150Gly)
c.3217A>G (p.Ser1073Gly)
c.3118A>G (p.Ser1040Gly)
c.2299A>G (p.Ser767Gly)
n.3850A>G
13g.51939119T>GCA388024091ATP7Bc.*1281A>C (n.*1281A>C)
c.*2375A>C (n.*2375A>C)
c.3010A>C (p.Ser1004Arg)
c.3631A>C (p.Ser1211Arg)
c.3298A>C (p.Ser1100Arg)
c.3379A>C (p.Ser1127Arg)
n.872A>C
c.3397A>C (p.Ser1133Arg)
n.3770A>C
n.497A>C
c.2566A>C (p.Ser856Arg)
c.2341A>C (p.Ser781Arg)
c.3436A>C (p.Ser1146Arg)
c.1409A>C
c.*732A>C (n.*732A>C)
n.4375A>C
n.2976A>C
c.3487A>C (p.Ser1163Arg)
c.3535A>C (p.Ser1179Arg)
c.3595A>C (p.Ser1199Arg)
c.3145A>C (p.Ser1049Arg)
c.1447A>C (p.Ser483Arg)
c.1264A>C (p.Ser422Arg)
c.3496A>C (p.Ser1166Arg)
c.3448A>C (p.Ser1150Arg)
c.3217A>C (p.Ser1073Arg)
c.3118A>C (p.Ser1040Arg)
c.2299A>C (p.Ser767Arg)
n.3850A>C
13g.51939120C>ACA388024116ATP7Bc.*1280G>T (n.*1280G>T)
c.*2374G>T (n.*2374G>T)
c.3009G>T (p.Gln1003His)
c.3630G>T (p.Gln1210His)
c.3297G>T (p.Gln1099His)
c.3378G>T (p.Gln1126His)
n.871G>T
c.3396G>T (p.Gln1132His)
n.3769G>T
n.496G>T
c.2565G>T (p.Gln855His)
c.2340G>T (p.Gln780His)
c.3435G>T (p.Gln1145His)
c.1408G>T
c.*731G>T (n.*731G>T)
n.4374G>T
n.2975G>T
c.3486G>T (p.Gln1162His)
c.3534G>T (p.Gln1178His)
c.3594G>T (p.Gln1198His)
c.3144G>T (p.Gln1048His)
c.1446G>T (p.Gln482His)
c.1263G>T (p.Gln421His)
c.3495G>T (p.Gln1165His)
c.3447G>T (p.Gln1149His)
c.3216G>T (p.Gln1072His)
c.3117G>T (p.Gln1039His)
c.2298G>T (p.Gln766His)
n.3849G>T
13g.51939120C>GCA388024120ATP7Bc.*1280G>C (n.*1280G>C)
c.*2374G>C (n.*2374G>C)
c.3009G>C (p.Gln1003His)
c.3630G>C (p.Gln1210His)
c.3297G>C (p.Gln1099His)
c.3378G>C (p.Gln1126His)
n.871G>C
c.3396G>C (p.Gln1132His)
n.3769G>C
n.496G>C
c.2565G>C (p.Gln855His)
c.2340G>C (p.Gln780His)
c.3435G>C (p.Gln1145His)
c.1408G>C
c.*731G>C (n.*731G>C)
n.4374G>C
n.2975G>C
c.3486G>C (p.Gln1162His)
c.3534G>C (p.Gln1178His)
c.3594G>C (p.Gln1198His)
c.3144G>C (p.Gln1048His)
c.1446G>C (p.Gln482His)
c.1263G>C (p.Gln421His)
c.3495G>C (p.Gln1165His)
c.3447G>C (p.Gln1149His)
c.3216G>C (p.Gln1072His)
c.3117G>C (p.Gln1039His)
c.2298G>C (p.Gln766His)
n.3849G>C
 gnomAD v4
13g.51939120C>TCA483893765ATP7Bc.*1280G>A (n.*1280G>A)
c.*2374G>A (n.*2374G>A)
c.3009G>A (p.Gln1003=)
c.3630G>A (p.Gln1210=)
c.3297G>A (p.Gln1099=)
c.3378G>A (p.Gln1126=)
n.871G>A
c.3396G>A (p.Gln1132=)
n.3769G>A
n.496G>A
c.2565G>A (p.Gln855=)
c.2340G>A (p.Gln780=)
c.3435G>A (p.Gln1145=)
c.1408G>A
c.*731G>A (n.*731G>A)
n.4374G>A
n.2975G>A
c.3486G>A (p.Gln1162=)
c.3534G>A (p.Gln1178=)
c.3594G>A (p.Gln1198=)
c.3144G>A (p.Gln1048=)
c.1446G>A (p.Gln482=)
c.1263G>A (p.Gln421=)
c.3495G>A (p.Gln1165=)
c.3447G>A (p.Gln1149=)
c.3216G>A (p.Gln1072=)
c.3117G>A (p.Gln1039=)
c.2298G>A (p.Gln766=)
n.3849G>A
 dbSNP
13g.51939120_51939123delCA2695218776ATP7Bc.*1277_*1280del (n.*1277_*1280del)
c.*2371_*2374del (n.*2371_*2374del)
c.3006_3009del (p.Gln1003AlafsTer8)
c.3627_3630del (p.Gln1210AlafsTer8)
c.3294_3297del (p.Gln1099AlafsTer8)
c.3375_3378del (p.Gln1126AlafsTer8)
n.868_871del
c.3393_3396del (p.Gln1132AlafsTer8)
n.3766_3769del
n.493_496del
c.2562_2565del (p.Gln855AlafsTer8)
c.2337_2340del (p.Gln780AlafsTer8)
c.3432_3435del (p.Gln1145AlafsTer8)
c.1405_1408del
c.*728_*731del (n.*728_*731del)
n.4371_4374del
n.2972_2975del
c.3483_3486del (p.Gln1162AlafsTer8)
c.3531_3534del (p.Gln1178AlafsTer8)
c.3591_3594del (p.Gln1198AlafsTer8)
c.3141_3144del (p.Gln1048AlafsTer8)
c.1443_1446del (p.Gln482AlafsTer8)
c.1260_1263del (p.Gln421AlafsTer8)
c.3492_3495del (p.Gln1165AlafsTer8)
c.3444_3447del (p.Gln1149AlafsTer8)
c.3213_3216del (p.Gln1072AlafsTer8)
c.3114_3117del (p.Gln1039AlafsTer8)
c.2295_2298del (p.Gln766AlafsTer8)
n.3846_3849del
13g.51939121T>ACA388024125ATP7Bc.*1279A>T (n.*1279A>T)
c.*2373A>T (n.*2373A>T)
c.3008A>T (p.Gln1003Leu)
c.3629A>T (p.Gln1210Leu)
c.3296A>T (p.Gln1099Leu)
c.3377A>T (p.Gln1126Leu)
n.870A>T
c.3395A>T (p.Gln1132Leu)
n.3768A>T
n.495A>T
c.2564A>T (p.Gln855Leu)
c.2339A>T (p.Gln780Leu)
c.3434A>T (p.Gln1145Leu)
c.1407A>T
c.*730A>T (n.*730A>T)
n.4373A>T
n.2974A>T
c.3485A>T (p.Gln1162Leu)
c.3533A>T (p.Gln1178Leu)
c.3593A>T (p.Gln1198Leu)
c.3143A>T (p.Gln1048Leu)
c.1445A>T (p.Gln482Leu)
c.1262A>T (p.Gln421Leu)
c.3494A>T (p.Gln1165Leu)
c.3446A>T (p.Gln1149Leu)
c.3215A>T (p.Gln1072Leu)
c.3116A>T (p.Gln1039Leu)
c.2297A>T (p.Gln766Leu)
n.3848A>T
13g.51939121T>CCA388024128ATP7Bc.*1279A>G (n.*1279A>G)
c.*2373A>G (n.*2373A>G)
c.3008A>G (p.Gln1003Arg)
c.3629A>G (p.Gln1210Arg)
c.3296A>G (p.Gln1099Arg)
c.3377A>G (p.Gln1126Arg)
n.870A>G
c.3395A>G (p.Gln1132Arg)
n.3768A>G
n.495A>G
c.2564A>G (p.Gln855Arg)
c.2339A>G (p.Gln780Arg)
c.3434A>G (p.Gln1145Arg)
c.1407A>G
c.*730A>G (n.*730A>G)
n.4373A>G
n.2974A>G
c.3485A>G (p.Gln1162Arg)
c.3533A>G (p.Gln1178Arg)
c.3593A>G (p.Gln1198Arg)
c.3143A>G (p.Gln1048Arg)
c.1445A>G (p.Gln482Arg)
c.1262A>G (p.Gln421Arg)
c.3494A>G (p.Gln1165Arg)
c.3446A>G (p.Gln1149Arg)
c.3215A>G (p.Gln1072Arg)
c.3116A>G (p.Gln1039Arg)
c.2297A>G (p.Gln766Arg)
n.3848A>G
13g.51939121T>GCA388024130ATP7Bc.*1279A>C (n.*1279A>C)
c.*2373A>C (n.*2373A>C)
c.3008A>C (p.Gln1003Pro)
c.3629A>C (p.Gln1210Pro)
c.3296A>C (p.Gln1099Pro)
c.3377A>C (p.Gln1126Pro)
n.870A>C
c.3395A>C (p.Gln1132Pro)
n.3768A>C
n.495A>C
c.2564A>C (p.Gln855Pro)
c.2339A>C (p.Gln780Pro)
c.3434A>C (p.Gln1145Pro)
c.1407A>C
c.*730A>C (n.*730A>C)
n.4373A>C
n.2974A>C
c.3485A>C (p.Gln1162Pro)
c.3533A>C (p.Gln1178Pro)
c.3593A>C (p.Gln1198Pro)
c.3143A>C (p.Gln1048Pro)
c.1445A>C (p.Gln482Pro)
c.1262A>C (p.Gln421Pro)
c.3494A>C (p.Gln1165Pro)
c.3446A>C (p.Gln1149Pro)
c.3215A>C (p.Gln1072Pro)
c.3116A>C (p.Gln1039Pro)
c.2297A>C (p.Gln766Pro)
n.3848A>C
 dbSNP
13g.51939121T=CA2091556803ATP7Bc.*1279A= (n.*1279A=)
c.*2373A= (n.*2373A=)
c.3008A= (p.Gln1003=)
c.3629A= (p.Gln1210=)
c.3296A= (p.Gln1099=)
c.3377A= (p.Gln1126=)
n.870A=
c.3395A= (p.Gln1132=)
n.3768A=
n.495A=
c.2564A= (p.Gln855=)
c.2339A= (p.Gln780=)
c.3434A= (p.Gln1145=)
c.1407A=
c.*730A= (n.*730A=)
n.4373A=
n.2974A=
c.3485A= (p.Gln1162=)
c.3533A= (p.Gln1178=)
c.3593A= (p.Gln1198=)
c.3143A= (p.Gln1048=)
c.1445A= (p.Gln482=)
c.1262A= (p.Gln421=)
c.3494A= (p.Gln1165=)
c.3446A= (p.Gln1149=)
c.3215A= (p.Gln1072=)
c.3116A= (p.Gln1039=)
c.2297A= (p.Gln766=)
n.3848A=
13g.51939122G>ACA388024134ATP7Bc.*1278C>T (n.*1278C>T)
c.*2372C>T (n.*2372C>T)
c.3007C>T (p.Gln1003Ter)
c.3628C>T (p.Gln1210Ter)
c.3295C>T (p.Gln1099Ter)
c.3376C>T (p.Gln1126Ter)
n.869C>T
c.3394C>T (p.Gln1132Ter)
n.3767C>T
n.494C>T
c.2563C>T (p.Gln855Ter)
c.2338C>T (p.Gln780Ter)
c.3433C>T (p.Gln1145Ter)
c.1406C>T
c.*729C>T (n.*729C>T)
n.4372C>T
n.2973C>T
c.3484C>T (p.Gln1162Ter)
c.3532C>T (p.Gln1178Ter)
c.3592C>T (p.Gln1198Ter)
c.3142C>T (p.Gln1048Ter)
c.1444C>T (p.Gln482Ter)
c.1261C>T (p.Gln421Ter)
c.3493C>T (p.Gln1165Ter)
c.3445C>T (p.Gln1149Ter)
c.3214C>T (p.Gln1072Ter)
c.3115C>T (p.Gln1039Ter)
c.2296C>T (p.Gln766Ter)
n.3847C>T
13g.51939122G>CCA388024153ATP7Bc.*1278C>G (n.*1278C>G)
c.*2372C>G (n.*2372C>G)
c.3007C>G (p.Gln1003Glu)
c.3628C>G (p.Gln1210Glu)
c.3295C>G (p.Gln1099Glu)
c.3376C>G (p.Gln1126Glu)
n.869C>G
c.3394C>G (p.Gln1132Glu)
n.3767C>G
n.494C>G
c.2563C>G (p.Gln855Glu)
c.2338C>G (p.Gln780Glu)
c.3433C>G (p.Gln1145Glu)
c.1406C>G
c.*729C>G (n.*729C>G)
n.4372C>G
n.2973C>G
c.3484C>G (p.Gln1162Glu)
c.3532C>G (p.Gln1178Glu)
c.3592C>G (p.Gln1198Glu)
c.3142C>G (p.Gln1048Glu)
c.1444C>G (p.Gln482Glu)
c.1261C>G (p.Gln421Glu)
c.3493C>G (p.Gln1165Glu)
c.3445C>G (p.Gln1149Glu)
c.3214C>G (p.Gln1072Glu)
c.3115C>G (p.Gln1039Glu)
c.2296C>G (p.Gln766Glu)
n.3847C>G
13g.51939122G>TCA388024158ATP7Bc.*1278C>A (n.*1278C>A)
c.*2372C>A (n.*2372C>A)
c.3007C>A (p.Gln1003Lys)
c.3628C>A (p.Gln1210Lys)
c.3295C>A (p.Gln1099Lys)
c.3376C>A (p.Gln1126Lys)
n.869C>A
c.3394C>A (p.Gln1132Lys)
n.3767C>A
n.494C>A
c.2563C>A (p.Gln855Lys)
c.2338C>A (p.Gln780Lys)
c.3433C>A (p.Gln1145Lys)
c.1406C>A
c.*729C>A (n.*729C>A)
n.4372C>A
n.2973C>A
c.3484C>A (p.Gln1162Lys)
c.3532C>A (p.Gln1178Lys)
c.3592C>A (p.Gln1198Lys)
c.3142C>A (p.Gln1048Lys)
c.1444C>A (p.Gln482Lys)
c.1261C>A (p.Gln421Lys)
c.3493C>A (p.Gln1165Lys)
c.3445C>A (p.Gln1149Lys)
c.3214C>A (p.Gln1072Lys)
c.3115C>A (p.Gln1039Lys)
c.2296C>A (p.Gln766Lys)
n.3847C>A
13g.51939123C>ACA483893767ATP7Bc.*1277G>T (n.*1277G>T)
c.*2371G>T (n.*2371G>T)
c.3006G>T (p.Leu1002=)
c.3627G>T (p.Leu1209=)
c.3294G>T (p.Leu1098=)
c.3375G>T (p.Leu1125=)
n.868G>T
c.3393G>T (p.Leu1131=)
n.3766G>T
n.493G>T
c.2562G>T (p.Leu854=)
c.2337G>T (p.Leu779=)
c.3432G>T (p.Leu1144=)
c.1405G>T
c.*728G>T (n.*728G>T)
n.4371G>T
n.2972G>T
c.3483G>T (p.Leu1161=)
c.3531G>T (p.Leu1177=)
c.3591G>T (p.Leu1197=)
c.3141G>T (p.Leu1047=)
c.1443G>T (p.Leu481=)
c.1260G>T (p.Leu420=)
c.3492G>T (p.Leu1164=)
c.3444G>T (p.Leu1148=)
c.3213G>T (p.Leu1071=)
c.3114G>T (p.Leu1038=)
c.2295G>T (p.Leu765=)
n.3846G>T
13g.51939123C>GCA483893769ATP7Bc.*1277G>C (n.*1277G>C)
c.*2371G>C (n.*2371G>C)
c.3006G>C (p.Leu1002=)
c.3627G>C (p.Leu1209=)
c.3294G>C (p.Leu1098=)
c.3375G>C (p.Leu1125=)
n.868G>C
c.3393G>C (p.Leu1131=)
n.3766G>C
n.493G>C
c.2562G>C (p.Leu854=)
c.2337G>C (p.Leu779=)
c.3432G>C (p.Leu1144=)
c.1405G>C
c.*728G>C (n.*728G>C)
n.4371G>C
n.2972G>C
c.3483G>C (p.Leu1161=)
c.3531G>C (p.Leu1177=)
c.3591G>C (p.Leu1197=)
c.3141G>C (p.Leu1047=)
c.1443G>C (p.Leu481=)
c.1260G>C (p.Leu420=)
c.3492G>C (p.Leu1164=)
c.3444G>C (p.Leu1148=)
c.3213G>C (p.Leu1071=)
c.3114G>C (p.Leu1038=)
c.2295G>C (p.Leu765=)
n.3846G>C
13g.51939123C>TCA483893770ATP7Bc.*1277G>A (n.*1277G>A)
c.*2371G>A (n.*2371G>A)
c.3006G>A (p.Leu1002=)
c.3627G>A (p.Leu1209=)
c.3294G>A (p.Leu1098=)
c.3375G>A (p.Leu1125=)
n.868G>A
c.3393G>A (p.Leu1131=)
n.3766G>A
n.493G>A
c.2562G>A (p.Leu854=)
c.2337G>A (p.Leu779=)
c.3432G>A (p.Leu1144=)
c.1405G>A
c.*728G>A (n.*728G>A)
n.4371G>A
n.2972G>A
c.3483G>A (p.Leu1161=)
c.3531G>A (p.Leu1177=)
c.3591G>A (p.Leu1197=)
c.3141G>A (p.Leu1047=)
c.1443G>A (p.Leu481=)
c.1260G>A (p.Leu420=)
c.3492G>A (p.Leu1164=)
c.3444G>A (p.Leu1148=)
c.3213G>A (p.Leu1071=)
c.3114G>A (p.Leu1038=)
c.2295G>A (p.Leu765=)
n.3846G>A
 gnomAD v4
13g.51939124A>CCA388024169ATP7Bc.*1276T>G (n.*1276T>G)
c.*2370T>G (n.*2370T>G)
c.3005T>G (p.Leu1002Arg)
c.3626T>G (p.Leu1209Arg)
c.3293T>G (p.Leu1098Arg)
c.3374T>G (p.Leu1125Arg)
n.867T>G
c.3392T>G (p.Leu1131Arg)
n.3765T>G
n.492T>G
c.2561T>G (p.Leu854Arg)
c.2336T>G (p.Leu779Arg)
c.3431T>G (p.Leu1144Arg)
c.1404T>G
c.*727T>G (n.*727T>G)
n.4370T>G
n.2971T>G
c.3482T>G (p.Leu1161Arg)
c.3530T>G (p.Leu1177Arg)
c.3590T>G (p.Leu1197Arg)
c.3140T>G (p.Leu1047Arg)
c.1442T>G (p.Leu481Arg)
c.1259T>G (p.Leu420Arg)
c.3491T>G (p.Leu1164Arg)
c.3443T>G (p.Leu1148Arg)
c.3212T>G (p.Leu1071Arg)
c.3113T>G (p.Leu1038Arg)
c.2294T>G (p.Leu765Arg)
n.3845T>G
13g.51939124A>GCA388024174ATP7Bc.*1276T>C (n.*1276T>C)
c.*2370T>C (n.*2370T>C)
c.3005T>C (p.Leu1002Pro)
c.3626T>C (p.Leu1209Pro)
c.3293T>C (p.Leu1098Pro)
c.3374T>C (p.Leu1125Pro)
n.867T>C
c.3392T>C (p.Leu1131Pro)
n.3765T>C
n.492T>C
c.2561T>C (p.Leu854Pro)
c.2336T>C (p.Leu779Pro)
c.3431T>C (p.Leu1144Pro)
c.1404T>C
c.*727T>C (n.*727T>C)
n.4370T>C
n.2971T>C
c.3482T>C (p.Leu1161Pro)
c.3530T>C (p.Leu1177Pro)
c.3590T>C (p.Leu1197Pro)
c.3140T>C (p.Leu1047Pro)
c.1442T>C (p.Leu481Pro)
c.1259T>C (p.Leu420Pro)
c.3491T>C (p.Leu1164Pro)
c.3443T>C (p.Leu1148Pro)
c.3212T>C (p.Leu1071Pro)
c.3113T>C (p.Leu1038Pro)
c.2294T>C (p.Leu765Pro)
n.3845T>C
13g.51939124A>TCA388024176ATP7Bc.*1276T>A (n.*1276T>A)
c.*2370T>A (n.*2370T>A)
c.3005T>A (p.Leu1002Gln)
c.3626T>A (p.Leu1209Gln)
c.3293T>A (p.Leu1098Gln)
c.3374T>A (p.Leu1125Gln)
n.867T>A
c.3392T>A (p.Leu1131Gln)
n.3765T>A
n.492T>A
c.2561T>A (p.Leu854Gln)
c.2336T>A (p.Leu779Gln)
c.3431T>A (p.Leu1144Gln)
c.1404T>A
c.*727T>A (n.*727T>A)
n.4370T>A
n.2971T>A
c.3482T>A (p.Leu1161Gln)
c.3530T>A (p.Leu1177Gln)
c.3590T>A (p.Leu1197Gln)
c.3140T>A (p.Leu1047Gln)
c.1442T>A (p.Leu481Gln)
c.1259T>A (p.Leu420Gln)
c.3491T>A (p.Leu1164Gln)
c.3443T>A (p.Leu1148Gln)
c.3212T>A (p.Leu1071Gln)
c.3113T>A (p.Leu1038Gln)
c.2294T>A (p.Leu765Gln)
n.3845T>A
13g.51939125G>ACA6988618ATP7Bc.*1275C>T (n.*1275C>T)
c.*2369C>T (n.*2369C>T)
c.3004C>T (p.Leu1002=)
c.3625C>T (p.Leu1209=)
c.3292C>T (p.Leu1098=)
c.3373C>T (p.Leu1125=)
n.866C>T
c.3391C>T (p.Leu1131=)
n.3764C>T
n.491C>T
c.2560C>T (p.Leu854=)
c.2335C>T (p.Leu779=)
c.3430C>T (p.Leu1144=)
c.1403C>T
c.*726C>T (n.*726C>T)
n.4369C>T
n.2970C>T
c.3481C>T (p.Leu1161=)
c.3529C>T (p.Leu1177=)
c.3589C>T (p.Leu1197=)
c.3139C>T (p.Leu1047=)
c.1441C>T (p.Leu481=)
c.1258C>T (p.Leu420=)
c.3490C>T (p.Leu1164=)
c.3442C>T (p.Leu1148=)
c.3211C>T (p.Leu1071=)
c.3112C>T (p.Leu1038=)
c.2293C>T (p.Leu765=)
n.3844C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939125G>CCA388024188ATP7Bc.*1275C>G (n.*1275C>G)
c.*2369C>G (n.*2369C>G)
c.3004C>G (p.Leu1002Val)
c.3625C>G (p.Leu1209Val)
c.3292C>G (p.Leu1098Val)
c.3373C>G (p.Leu1125Val)
n.866C>G
c.3391C>G (p.Leu1131Val)
n.3764C>G
n.491C>G
c.2560C>G (p.Leu854Val)
c.2335C>G (p.Leu779Val)
c.3430C>G (p.Leu1144Val)
c.1403C>G
c.*726C>G (n.*726C>G)
n.4369C>G
n.2970C>G
c.3481C>G (p.Leu1161Val)
c.3529C>G (p.Leu1177Val)
c.3589C>G (p.Leu1197Val)
c.3139C>G (p.Leu1047Val)
c.1441C>G (p.Leu481Val)
c.1258C>G (p.Leu420Val)
c.3490C>G (p.Leu1164Val)
c.3442C>G (p.Leu1148Val)
c.3211C>G (p.Leu1071Val)
c.3112C>G (p.Leu1038Val)
c.2293C>G (p.Leu765Val)
n.3844C>G
13g.51939125G=CA2091556807ATP7Bc.*1275C= (n.*1275C=)
c.*2369C= (n.*2369C=)
c.3004C= (p.Leu1002=)
c.3625C= (p.Leu1209=)
c.3292C= (p.Leu1098=)
c.3373C= (p.Leu1125=)
n.866C=
c.3391C= (p.Leu1131=)
n.3764C=
n.491C=
c.2560C= (p.Leu854=)
c.2335C= (p.Leu779=)
c.3430C= (p.Leu1144=)
c.1403C=
c.*726C= (n.*726C=)
n.4369C=
n.2970C=
c.3481C= (p.Leu1161=)
c.3529C= (p.Leu1177=)
c.3589C= (p.Leu1197=)
c.3139C= (p.Leu1047=)
c.1441C= (p.Leu481=)
c.1258C= (p.Leu420=)
c.3490C= (p.Leu1164=)
c.3442C= (p.Leu1148=)
c.3211C= (p.Leu1071=)
c.3112C= (p.Leu1038=)
c.2293C= (p.Leu765=)
n.3844C=
13g.51939125G>TCA250075132ATP7Bc.*1275C>A (n.*1275C>A)
c.*2369C>A (n.*2369C>A)
c.3004C>A (p.Leu1002Met)
c.3625C>A (p.Leu1209Met)
c.3292C>A (p.Leu1098Met)
c.3373C>A (p.Leu1125Met)
n.866C>A
c.3391C>A (p.Leu1131Met)
n.3764C>A
n.491C>A
c.2560C>A (p.Leu854Met)
c.2335C>A (p.Leu779Met)
c.3430C>A (p.Leu1144Met)
c.1403C>A
c.*726C>A (n.*726C>A)
n.4369C>A
n.2970C>A
c.3481C>A (p.Leu1161Met)
c.3529C>A (p.Leu1177Met)
c.3589C>A (p.Leu1197Met)
c.3139C>A (p.Leu1047Met)
c.1441C>A (p.Leu481Met)
c.1258C>A (p.Leu420Met)
c.3490C>A (p.Leu1164Met)
c.3442C>A (p.Leu1148Met)
c.3211C>A (p.Leu1071Met)
c.3112C>A (p.Leu1038Met)
c.2293C>A (p.Leu765Met)
n.3844C>A
 dbSNP
13g.51939126C>ACA6988620ATP7Bc.*1274G>T (n.*1274G>T)
c.*2368G>T (n.*2368G>T)
c.3003G>T (p.Thr1001=)
c.3624G>T (p.Thr1208=)
c.3291G>T (p.Thr1097=)
c.3372G>T (p.Thr1124=)
n.865G>T
c.3390G>T (p.Thr1130=)
n.3763G>T
n.490G>T
c.2559G>T (p.Thr853=)
c.2334G>T (p.Thr778=)
c.3429G>T (p.Thr1143=)
c.1402G>T
c.*725G>T (n.*725G>T)
n.4368G>T
n.2969G>T
c.3480G>T (p.Thr1160=)
c.3528G>T (p.Thr1176=)
c.3588G>T (p.Thr1196=)
c.3138G>T (p.Thr1046=)
c.1440G>T (p.Thr480=)
c.1257G>T (p.Thr419=)
c.3489G>T (p.Thr1163=)
c.3441G>T (p.Thr1147=)
c.3210G>T (p.Thr1070=)
c.3111G>T (p.Thr1037=)
c.2292G>T (p.Thr764=)
n.3843G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939126C=CA2091556819ATP7Bc.*1274G= (n.*1274G=)
c.*2368G= (n.*2368G=)
c.3003G= (p.Thr1001=)
c.3624G= (p.Thr1208=)
c.3291G= (p.Thr1097=)
c.3372G= (p.Thr1124=)
n.865G=
c.3390G= (p.Thr1130=)
n.3763G=
n.490G=
c.2559G= (p.Thr853=)
c.2334G= (p.Thr778=)
c.3429G= (p.Thr1143=)
c.1402G=
c.*725G= (n.*725G=)
n.4368G=
n.2969G=
c.3480G= (p.Thr1160=)
c.3528G= (p.Thr1176=)
c.3588G= (p.Thr1196=)
c.3138G= (p.Thr1046=)
c.1440G= (p.Thr480=)
c.1257G= (p.Thr419=)
c.3489G= (p.Thr1163=)
c.3441G= (p.Thr1147=)
c.3210G= (p.Thr1070=)
c.3111G= (p.Thr1037=)
c.2292G= (p.Thr764=)
n.3843G=
13g.51939126C>GCA483893771ATP7Bc.*1274G>C (n.*1274G>C)
c.*2368G>C (n.*2368G>C)
c.3003G>C (p.Thr1001=)
c.3624G>C (p.Thr1208=)
c.3291G>C (p.Thr1097=)
c.3372G>C (p.Thr1124=)
n.865G>C
c.3390G>C (p.Thr1130=)
n.3763G>C
n.490G>C
c.2559G>C (p.Thr853=)
c.2334G>C (p.Thr778=)
c.3429G>C (p.Thr1143=)
c.1402G>C
c.*725G>C (n.*725G>C)
n.4368G>C
n.2969G>C
c.3480G>C (p.Thr1160=)
c.3528G>C (p.Thr1176=)
c.3588G>C (p.Thr1196=)
c.3138G>C (p.Thr1046=)
c.1440G>C (p.Thr480=)
c.1257G>C (p.Thr419=)
c.3489G>C (p.Thr1163=)
c.3441G>C (p.Thr1147=)
c.3210G>C (p.Thr1070=)
c.3111G>C (p.Thr1037=)
c.2292G>C (p.Thr764=)
n.3843G>C
13g.51939126C>TCA6988619ATP7Bc.*1274G>A (n.*1274G>A)
c.*2368G>A (n.*2368G>A)
c.3003G>A (p.Thr1001=)
c.3624G>A (p.Thr1208=)
c.3291G>A (p.Thr1097=)
c.3372G>A (p.Thr1124=)
n.865G>A
c.3390G>A (p.Thr1130=)
n.3763G>A
n.490G>A
c.2559G>A (p.Thr853=)
c.2334G>A (p.Thr778=)
c.3429G>A (p.Thr1143=)
c.1402G>A
c.*725G>A (n.*725G>A)
n.4368G>A
n.2969G>A
c.3480G>A (p.Thr1160=)
c.3528G>A (p.Thr1176=)
c.3588G>A (p.Thr1196=)
c.3138G>A (p.Thr1046=)
c.1440G>A (p.Thr480=)
c.1257G>A (p.Thr419=)
c.3489G>A (p.Thr1163=)
c.3441G>A (p.Thr1147=)
c.3210G>A (p.Thr1070=)
c.3111G>A (p.Thr1037=)
c.2292G>A (p.Thr764=)
n.3843G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939127G>ACA6988621ATP7Bc.*1273C>T (n.*1273C>T)
c.*2367C>T (n.*2367C>T)
c.3002C>T (p.Thr1001Met)
c.3623C>T (p.Thr1208Met)
c.3290C>T (p.Thr1097Met)
c.3371C>T (p.Thr1124Met)
n.864C>T
c.3389C>T (p.Thr1130Met)
n.3762C>T
n.489C>T
c.2558C>T (p.Thr853Met)
c.2333C>T (p.Thr778Met)
c.3428C>T (p.Thr1143Met)
c.1401C>T
c.*724C>T (n.*724C>T)
n.4367C>T
n.2968C>T
c.3479C>T (p.Thr1160Met)
c.3527C>T (p.Thr1176Met)
c.3587C>T (p.Thr1196Met)
c.3137C>T (p.Thr1046Met)
c.1439C>T (p.Thr480Met)
c.1256C>T (p.Thr419Met)
c.3488C>T (p.Thr1163Met)
c.3440C>T (p.Thr1147Met)
c.3209C>T (p.Thr1070Met)
c.3110C>T (p.Thr1037Met)
c.2291C>T (p.Thr764Met)
n.3842C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939127G>CCA388024198ATP7Bc.*1273C>G (n.*1273C>G)
c.*2367C>G (n.*2367C>G)
c.3002C>G (p.Thr1001Arg)
c.3623C>G (p.Thr1208Arg)
c.3290C>G (p.Thr1097Arg)
c.3371C>G (p.Thr1124Arg)
n.864C>G
c.3389C>G (p.Thr1130Arg)
n.3762C>G
n.489C>G
c.2558C>G (p.Thr853Arg)
c.2333C>G (p.Thr778Arg)
c.3428C>G (p.Thr1143Arg)
c.1401C>G
c.*724C>G (n.*724C>G)
n.4367C>G
n.2968C>G
c.3479C>G (p.Thr1160Arg)
c.3527C>G (p.Thr1176Arg)
c.3587C>G (p.Thr1196Arg)
c.3137C>G (p.Thr1046Arg)
c.1439C>G (p.Thr480Arg)
c.1256C>G (p.Thr419Arg)
c.3488C>G (p.Thr1163Arg)
c.3440C>G (p.Thr1147Arg)
c.3209C>G (p.Thr1070Arg)
c.3110C>G (p.Thr1037Arg)
c.2291C>G (p.Thr764Arg)
n.3842C>G
 ClinVar dbSNP
13g.51939127G=CA2091556828ATP7Bc.*1273C= (n.*1273C=)
c.*2367C= (n.*2367C=)
c.3002C= (p.Thr1001=)
c.3623C= (p.Thr1208=)
c.3290C= (p.Thr1097=)
c.3371C= (p.Thr1124=)
n.864C=
c.3389C= (p.Thr1130=)
n.3762C=
n.489C=
c.2558C= (p.Thr853=)
c.2333C= (p.Thr778=)
c.3428C= (p.Thr1143=)
c.1401C=
c.*724C= (n.*724C=)
n.4367C=
n.2968C=
c.3479C= (p.Thr1160=)
c.3527C= (p.Thr1176=)
c.3587C= (p.Thr1196=)
c.3137C= (p.Thr1046=)
c.1439C= (p.Thr480=)
c.1256C= (p.Thr419=)
c.3488C= (p.Thr1163=)
c.3440C= (p.Thr1147=)
c.3209C= (p.Thr1070=)
c.3110C= (p.Thr1037=)
c.2291C= (p.Thr764=)
n.3842C=
13g.51939127G>TCA250075143ATP7Bc.*1273C>A (n.*1273C>A)
c.*2367C>A (n.*2367C>A)
c.3002C>A (p.Thr1001Lys)
c.3623C>A (p.Thr1208Lys)
c.3290C>A (p.Thr1097Lys)
c.3371C>A (p.Thr1124Lys)
n.864C>A
c.3389C>A (p.Thr1130Lys)
n.3762C>A
n.489C>A
c.2558C>A (p.Thr853Lys)
c.2333C>A (p.Thr778Lys)
c.3428C>A (p.Thr1143Lys)
c.1401C>A
c.*724C>A (n.*724C>A)
n.4367C>A
n.2968C>A
c.3479C>A (p.Thr1160Lys)
c.3527C>A (p.Thr1176Lys)
c.3587C>A (p.Thr1196Lys)
c.3137C>A (p.Thr1046Lys)
c.1439C>A (p.Thr480Lys)
c.1256C>A (p.Thr419Lys)
c.3488C>A (p.Thr1163Lys)
c.3440C>A (p.Thr1147Lys)
c.3209C>A (p.Thr1070Lys)
c.3110C>A (p.Thr1037Lys)
c.2291C>A (p.Thr764Lys)
n.3842C>A
 dbSNP gnomAD v4
13g.51939128T>ACA388024200ATP7Bc.*1272A>T (n.*1272A>T)
c.*2366A>T (n.*2366A>T)
c.3001A>T (p.Thr1001Ser)
c.3622A>T (p.Thr1208Ser)
c.3289A>T (p.Thr1097Ser)
c.3370A>T (p.Thr1124Ser)
n.863A>T
c.3388A>T (p.Thr1130Ser)
n.3761A>T
n.488A>T
c.2557A>T (p.Thr853Ser)
c.2332A>T (p.Thr778Ser)
c.3427A>T (p.Thr1143Ser)
c.1400A>T
c.*723A>T (n.*723A>T)
n.4366A>T
n.2967A>T
c.3478A>T (p.Thr1160Ser)
c.3526A>T (p.Thr1176Ser)
c.3586A>T (p.Thr1196Ser)
c.3136A>T (p.Thr1046Ser)
c.1438A>T (p.Thr480Ser)
c.1255A>T (p.Thr419Ser)
c.3487A>T (p.Thr1163Ser)
c.3439A>T (p.Thr1147Ser)
c.3208A>T (p.Thr1070Ser)
c.3109A>T (p.Thr1037Ser)
c.2290A>T (p.Thr764Ser)
n.3841A>T
13g.51939128T>CCA388024213ATP7Bc.*1272A>G (n.*1272A>G)
c.*2366A>G (n.*2366A>G)
c.3001A>G (p.Thr1001Ala)
c.3622A>G (p.Thr1208Ala)
c.3289A>G (p.Thr1097Ala)
c.3370A>G (p.Thr1124Ala)
n.863A>G
c.3388A>G (p.Thr1130Ala)
n.3761A>G
n.488A>G
c.2557A>G (p.Thr853Ala)
c.2332A>G (p.Thr778Ala)
c.3427A>G (p.Thr1143Ala)
c.1400A>G
c.*723A>G (n.*723A>G)
n.4366A>G
n.2967A>G
c.3478A>G (p.Thr1160Ala)
c.3526A>G (p.Thr1176Ala)
c.3586A>G (p.Thr1196Ala)
c.3136A>G (p.Thr1046Ala)
c.1438A>G (p.Thr480Ala)
c.1255A>G (p.Thr419Ala)
c.3487A>G (p.Thr1163Ala)
c.3439A>G (p.Thr1147Ala)
c.3208A>G (p.Thr1070Ala)
c.3109A>G (p.Thr1037Ala)
c.2290A>G (p.Thr764Ala)
n.3841A>G
 gnomAD v4
13g.51939128T>GCA388024216ATP7Bc.*1272A>C (n.*1272A>C)
c.*2366A>C (n.*2366A>C)
c.3001A>C (p.Thr1001Pro)
c.3622A>C (p.Thr1208Pro)
c.3289A>C (p.Thr1097Pro)
c.3370A>C (p.Thr1124Pro)
n.863A>C
c.3388A>C (p.Thr1130Pro)
n.3761A>C
n.488A>C
c.2557A>C (p.Thr853Pro)
c.2332A>C (p.Thr778Pro)
c.3427A>C (p.Thr1143Pro)
c.1400A>C
c.*723A>C (n.*723A>C)
n.4366A>C
n.2967A>C
c.3478A>C (p.Thr1160Pro)
c.3526A>C (p.Thr1176Pro)
c.3586A>C (p.Thr1196Pro)
c.3136A>C (p.Thr1046Pro)
c.1438A>C (p.Thr480Pro)
c.1255A>C (p.Thr419Pro)
c.3487A>C (p.Thr1163Pro)
c.3439A>C (p.Thr1147Pro)
c.3208A>C (p.Thr1070Pro)
c.3109A>C (p.Thr1037Pro)
c.2290A>C (p.Thr764Pro)
n.3841A>C
13g.51939129G>ACA483893773ATP7Bc.*1271C>T (n.*1271C>T)
c.*2365C>T (n.*2365C>T)
c.3000C>T (p.His1000=)
c.3621C>T (p.His1207=)
c.3288C>T (p.His1096=)
c.3369C>T (p.His1123=)
n.862C>T
c.3387C>T (p.His1129=)
n.3760C>T
n.487C>T
c.2556C>T (p.His852=)
c.2331C>T (p.His777=)
c.3426C>T (p.His1142=)
c.1399C>T
c.*722C>T (n.*722C>T)
n.4365C>T
n.2966C>T
c.3477C>T (p.His1159=)
c.3525C>T (p.His1175=)
c.3585C>T (p.His1195=)
c.3135C>T (p.His1045=)
c.1437C>T (p.His479=)
c.1254C>T (p.His418=)
c.3486C>T (p.His1162=)
c.3438C>T (p.His1146=)
c.3207C>T (p.His1069=)
c.3108C>T (p.His1036=)
c.2289C>T (p.His763=)
n.3840C>T
 ClinVar gnomAD v4
13g.51939129G>CCA388024223ATP7Bc.*1271C>G (n.*1271C>G)
c.*2365C>G (n.*2365C>G)
c.3000C>G (p.His1000Gln)
c.3621C>G (p.His1207Gln)
c.3288C>G (p.His1096Gln)
c.3369C>G (p.His1123Gln)
n.862C>G
c.3387C>G (p.His1129Gln)
n.3760C>G
n.487C>G
c.2556C>G (p.His852Gln)
c.2331C>G (p.His777Gln)
c.3426C>G (p.His1142Gln)
c.1399C>G
c.*722C>G (n.*722C>G)
n.4365C>G
n.2966C>G
c.3477C>G (p.His1159Gln)
c.3525C>G (p.His1175Gln)
c.3585C>G (p.His1195Gln)
c.3135C>G (p.His1045Gln)
c.1437C>G (p.His479Gln)
c.1254C>G (p.His418Gln)
c.3486C>G (p.His1162Gln)
c.3438C>G (p.His1146Gln)
c.3207C>G (p.His1069Gln)
c.3108C>G (p.His1036Gln)
c.2289C>G (p.His763Gln)
n.3840C>G
13g.51939129G>TCA388024225ATP7Bc.*1271C>A (n.*1271C>A)
c.*2365C>A (n.*2365C>A)
c.3000C>A (p.His1000Gln)
c.3621C>A (p.His1207Gln)
c.3288C>A (p.His1096Gln)
c.3369C>A (p.His1123Gln)
n.862C>A
c.3387C>A (p.His1129Gln)
n.3760C>A
n.487C>A
c.2556C>A (p.His852Gln)
c.2331C>A (p.His777Gln)
c.3426C>A (p.His1142Gln)
c.1399C>A
c.*722C>A (n.*722C>A)
n.4365C>A
n.2966C>A
c.3477C>A (p.His1159Gln)
c.3525C>A (p.His1175Gln)
c.3585C>A (p.His1195Gln)
c.3135C>A (p.His1045Gln)
c.1437C>A (p.His479Gln)
c.1254C>A (p.His418Gln)
c.3486C>A (p.His1162Gln)
c.3438C>A (p.His1146Gln)
c.3207C>A (p.His1069Gln)
c.3108C>A (p.His1036Gln)
c.2289C>A (p.His763Gln)
n.3840C>A
13g.51939130T>ACA388024231ATP7Bc.*1270A>T (n.*1270A>T)
c.*2364A>T (n.*2364A>T)
c.2999A>T (p.His1000Leu)
c.3620A>T (p.His1207Leu)
c.3287A>T (p.His1096Leu)
c.3368A>T (p.His1123Leu)
n.861A>T
c.3386A>T (p.His1129Leu)
n.3759A>T
n.486A>T
c.2555A>T (p.His852Leu)
c.2330A>T (p.His777Leu)
c.3425A>T (p.His1142Leu)
c.1398A>T
c.*721A>T (n.*721A>T)
n.4364A>T
n.2965A>T
c.3476A>T (p.His1159Leu)
c.3524A>T (p.His1175Leu)
c.3584A>T (p.His1195Leu)
c.3134A>T (p.His1045Leu)
c.1436A>T (p.His479Leu)
c.1253A>T (p.His418Leu)
c.3485A>T (p.His1162Leu)
c.3437A>T (p.His1146Leu)
c.3206A>T (p.His1069Leu)
c.3107A>T (p.His1036Leu)
c.2288A>T (p.His763Leu)
n.3839A>T
13g.51939130T>CCA145687ATP7Bc.*1270A>G (n.*1270A>G)
c.*2364A>G (n.*2364A>G)
c.2999A>G (p.His1000Arg)
c.3620A>G (p.His1207Arg)
c.3287A>G (p.His1096Arg)
c.3368A>G (p.His1123Arg)
n.861A>G
c.3386A>G (p.His1129Arg)
n.3759A>G
n.486A>G
c.2555A>G (p.His852Arg)
c.2330A>G (p.His777Arg)
c.3425A>G (p.His1142Arg)
c.1398A>G
c.*721A>G (n.*721A>G)
n.4364A>G
n.2965A>G
c.3476A>G (p.His1159Arg)
c.3524A>G (p.His1175Arg)
c.3584A>G (p.His1195Arg)
c.3134A>G (p.His1045Arg)
c.1436A>G (p.His479Arg)
c.1253A>G (p.His418Arg)
c.3485A>G (p.His1162Arg)
c.3437A>G (p.His1146Arg)
c.3206A>G (p.His1069Arg)
c.3107A>G (p.His1036Arg)
c.2288A>G (p.His763Arg)
n.3839A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939130T>GCA388024238ATP7Bc.*1270A>C (n.*1270A>C)
c.*2364A>C (n.*2364A>C)
c.2999A>C (p.His1000Pro)
c.3620A>C (p.His1207Pro)
c.3287A>C (p.His1096Pro)
c.3368A>C (p.His1123Pro)
n.861A>C
c.3386A>C (p.His1129Pro)
n.3759A>C
n.486A>C
c.2555A>C (p.His852Pro)
c.2330A>C (p.His777Pro)
c.3425A>C (p.His1142Pro)
c.1398A>C
c.*721A>C (n.*721A>C)
n.4364A>C
n.2965A>C
c.3476A>C (p.His1159Pro)
c.3524A>C (p.His1175Pro)
c.3584A>C (p.His1195Pro)
c.3134A>C (p.His1045Pro)
c.1436A>C (p.His479Pro)
c.1253A>C (p.His418Pro)
c.3485A>C (p.His1162Pro)
c.3437A>C (p.His1146Pro)
c.3206A>C (p.His1069Pro)
c.3107A>C (p.His1036Pro)
c.2288A>C (p.His763Pro)
n.3839A>C
13g.51939130T=CA2091556834ATP7Bc.*1270A= (n.*1270A=)
c.*2364A= (n.*2364A=)
c.2999A= (p.His1000=)
c.3620A= (p.His1207=)
c.3287A= (p.His1096=)
c.3368A= (p.His1123=)
n.861A=
c.3386A= (p.His1129=)
n.3759A=
n.486A=
c.2555A= (p.His852=)
c.2330A= (p.His777=)
c.3425A= (p.His1142=)
c.1398A=
c.*721A= (n.*721A=)
n.4364A=
n.2965A=
c.3476A= (p.His1159=)
c.3524A= (p.His1175=)
c.3584A= (p.His1195=)
c.3134A= (p.His1045=)
c.1436A= (p.His479=)
c.1253A= (p.His418=)
c.3485A= (p.His1162=)
c.3437A= (p.His1146=)
c.3206A= (p.His1069=)
c.3107A= (p.His1036=)
c.2288A= (p.His763=)
n.3839A=
13g.51939131G>ACA6988622ATP7Bc.*1269C>T (n.*1269C>T)
c.*2363C>T (n.*2363C>T)
c.2998C>T (p.His1000Tyr)
c.3619C>T (p.His1207Tyr)
c.3286C>T (p.His1096Tyr)
c.3367C>T (p.His1123Tyr)
n.860C>T
c.3385C>T (p.His1129Tyr)
n.3758C>T
n.485C>T
c.2554C>T (p.His852Tyr)
c.2329C>T (p.His777Tyr)
c.3424C>T (p.His1142Tyr)
c.1397C>T
c.*720C>T (n.*720C>T)
n.4363C>T
n.2964C>T
c.3475C>T (p.His1159Tyr)
c.3523C>T (p.His1175Tyr)
c.3583C>T (p.His1195Tyr)
c.3133C>T (p.His1045Tyr)
c.1435C>T (p.His479Tyr)
c.1252C>T (p.His418Tyr)
c.3484C>T (p.His1162Tyr)
c.3436C>T (p.His1146Tyr)
c.3205C>T (p.His1069Tyr)
c.3106C>T (p.His1036Tyr)
c.2287C>T (p.His763Tyr)
n.3838C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939131G>CCA388024241ATP7Bc.*1269C>G (n.*1269C>G)
c.*2363C>G (n.*2363C>G)
c.2998C>G (p.His1000Asp)
c.3619C>G (p.His1207Asp)
c.3286C>G (p.His1096Asp)
c.3367C>G (p.His1123Asp)
n.860C>G
c.3385C>G (p.His1129Asp)
n.3758C>G
n.485C>G
c.2554C>G (p.His852Asp)
c.2329C>G (p.His777Asp)
c.3424C>G (p.His1142Asp)
c.1397C>G
c.*720C>G (n.*720C>G)
n.4363C>G
n.2964C>G
c.3475C>G (p.His1159Asp)
c.3523C>G (p.His1175Asp)
c.3583C>G (p.His1195Asp)
c.3133C>G (p.His1045Asp)
c.1435C>G (p.His479Asp)
c.1252C>G (p.His418Asp)
c.3484C>G (p.His1162Asp)
c.3436C>G (p.His1146Asp)
c.3205C>G (p.His1069Asp)
c.3106C>G (p.His1036Asp)
c.2287C>G (p.His763Asp)
n.3838C>G
 COSMIC
13g.51939131G=CA2091556838ATP7Bc.*1269C= (n.*1269C=)
c.*2363C= (n.*2363C=)
c.2998C= (p.His1000=)
c.3619C= (p.His1207=)
c.3286C= (p.His1096=)
c.3367C= (p.His1123=)
n.860C=
c.3385C= (p.His1129=)
n.3758C=
n.485C=
c.2554C= (p.His852=)
c.2329C= (p.His777=)
c.3424C= (p.His1142=)
c.1397C=
c.*720C= (n.*720C=)
n.4363C=
n.2964C=
c.3475C= (p.His1159=)
c.3523C= (p.His1175=)
c.3583C= (p.His1195=)
c.3133C= (p.His1045=)
c.1435C= (p.His479=)
c.1252C= (p.His418=)
c.3484C= (p.His1162=)
c.3436C= (p.His1146=)
c.3205C= (p.His1069=)
c.3106C= (p.His1036=)
c.2287C= (p.His763=)
n.3838C=
13g.51939131G>TCA388024239ATP7Bc.*1269C>A (n.*1269C>A)
c.*2363C>A (n.*2363C>A)
c.2998C>A (p.His1000Asn)
c.3619C>A (p.His1207Asn)
c.3286C>A (p.His1096Asn)
c.3367C>A (p.His1123Asn)
n.860C>A
c.3385C>A (p.His1129Asn)
n.3758C>A
n.485C>A
c.2554C>A (p.His852Asn)
c.2329C>A (p.His777Asn)
c.3424C>A (p.His1142Asn)
c.1397C>A
c.*720C>A (n.*720C>A)
n.4363C>A
n.2964C>A
c.3475C>A (p.His1159Asn)
c.3523C>A (p.His1175Asn)
c.3583C>A (p.His1195Asn)
c.3133C>A (p.His1045Asn)
c.1435C>A (p.His479Asn)
c.1252C>A (p.His418Asn)
c.3484C>A (p.His1162Asn)
c.3436C>A (p.His1146Asn)
c.3205C>A (p.His1069Asn)
c.3106C>A (p.His1036Asn)
c.2287C>A (p.His763Asn)
n.3838C>A
13g.51939132C>ACA483893775ATP7Bc.*1268G>T (n.*1268G>T)
c.*2362G>T (n.*2362G>T)
c.2997G>T (p.Val999=)
c.3618G>T (p.Val1206=)
c.3285G>T (p.Val1095=)
c.3366G>T (p.Val1122=)
n.859G>T
c.3384G>T (p.Val1128=)
n.3757G>T
n.484G>T
c.2553G>T (p.Val851=)
c.2328G>T (p.Val776=)
c.3423G>T (p.Val1141=)
c.1396G>T
c.*719G>T (n.*719G>T)
n.4362G>T
n.2963G>T
c.3474G>T (p.Val1158=)
c.3522G>T (p.Val1174=)
c.3582G>T (p.Val1194=)
c.3132G>T (p.Val1044=)
c.1434G>T (p.Val478=)
c.1251G>T (p.Val417=)
c.3483G>T (p.Val1161=)
c.3435G>T (p.Val1145=)
c.3204G>T (p.Val1068=)
c.3105G>T (p.Val1035=)
c.2286G>T (p.Val762=)
n.3837G>T
13g.51939132C=CA2091556843ATP7Bc.*1268G= (n.*1268G=)
c.*2362G= (n.*2362G=)
c.2997G= (p.Val999=)
c.3618G= (p.Val1206=)
c.3285G= (p.Val1095=)
c.3366G= (p.Val1122=)
n.859G=
c.3384G= (p.Val1128=)
n.3757G=
n.484G=
c.2553G= (p.Val851=)
c.2328G= (p.Val776=)
c.3423G= (p.Val1141=)
c.1396G=
c.*719G= (n.*719G=)
n.4362G=
n.2963G=
c.3474G= (p.Val1158=)
c.3522G= (p.Val1174=)
c.3582G= (p.Val1194=)
c.3132G= (p.Val1044=)
c.1434G= (p.Val478=)
c.1251G= (p.Val417=)
c.3483G= (p.Val1161=)
c.3435G= (p.Val1145=)
c.3204G= (p.Val1068=)
c.3105G= (p.Val1035=)
c.2286G= (p.Val762=)
n.3837G=
13g.51939132C>GCA483893776ATP7Bc.*1268G>C (n.*1268G>C)
c.*2362G>C (n.*2362G>C)
c.2997G>C (p.Val999=)
c.3618G>C (p.Val1206=)
c.3285G>C (p.Val1095=)
c.3366G>C (p.Val1122=)
n.859G>C
c.3384G>C (p.Val1128=)
n.3757G>C
n.484G>C
c.2553G>C (p.Val851=)
c.2328G>C (p.Val776=)
c.3423G>C (p.Val1141=)
c.1396G>C
c.*719G>C (n.*719G>C)
n.4362G>C
n.2963G>C
c.3474G>C (p.Val1158=)
c.3522G>C (p.Val1174=)
c.3582G>C (p.Val1194=)
c.3132G>C (p.Val1044=)
c.1434G>C (p.Val478=)
c.1251G>C (p.Val417=)
c.3483G>C (p.Val1161=)
c.3435G>C (p.Val1145=)
c.3204G>C (p.Val1068=)
c.3105G>C (p.Val1035=)
c.2286G>C (p.Val762=)
n.3837G>C
13g.51939132C>TCA6988623ATP7Bc.*1268G>A (n.*1268G>A)
c.*2362G>A (n.*2362G>A)
c.2997G>A (p.Val999=)
c.3618G>A (p.Val1206=)
c.3285G>A (p.Val1095=)
c.3366G>A (p.Val1122=)
n.859G>A
c.3384G>A (p.Val1128=)
n.3757G>A
n.484G>A
c.2553G>A (p.Val851=)
c.2328G>A (p.Val776=)
c.3423G>A (p.Val1141=)
c.1396G>A
c.*719G>A (n.*719G>A)
n.4362G>A
n.2963G>A
c.3474G>A (p.Val1158=)
c.3522G>A (p.Val1174=)
c.3582G>A (p.Val1194=)
c.3132G>A (p.Val1044=)
c.1434G>A (p.Val478=)
c.1251G>A (p.Val417=)
c.3483G>A (p.Val1161=)
c.3435G>A (p.Val1145=)
c.3204G>A (p.Val1068=)
c.3105G>A (p.Val1035=)
c.2286G>A (p.Val762=)
n.3837G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939133A>CCA388024253ATP7Bc.*1267T>G (n.*1267T>G)
c.*2361T>G (n.*2361T>G)
c.2996T>G (p.Val999Gly)
c.3617T>G (p.Val1206Gly)
c.3284T>G (p.Val1095Gly)
c.3365T>G (p.Val1122Gly)
n.858T>G
c.3383T>G (p.Val1128Gly)
n.3756T>G
n.483T>G
c.2552T>G (p.Val851Gly)
c.2327T>G (p.Val776Gly)
c.3422T>G (p.Val1141Gly)
c.1395T>G
c.*718T>G (n.*718T>G)
n.4361T>G
n.2962T>G
c.3473T>G (p.Val1158Gly)
c.3521T>G (p.Val1174Gly)
c.3581T>G (p.Val1194Gly)
c.3131T>G (p.Val1044Gly)
c.1433T>G (p.Val478Gly)
c.1250T>G (p.Val417Gly)
c.3482T>G (p.Val1161Gly)
c.3434T>G (p.Val1145Gly)
c.3203T>G (p.Val1068Gly)
c.3104T>G (p.Val1035Gly)
c.2285T>G (p.Val762Gly)
n.3836T>G
13g.51939133A>GCA388024246ATP7Bc.*1267T>C (n.*1267T>C)
c.*2361T>C (n.*2361T>C)
c.2996T>C (p.Val999Ala)
c.3617T>C (p.Val1206Ala)
c.3284T>C (p.Val1095Ala)
c.3365T>C (p.Val1122Ala)
n.858T>C
c.3383T>C (p.Val1128Ala)
n.3756T>C
n.483T>C
c.2552T>C (p.Val851Ala)
c.2327T>C (p.Val776Ala)
c.3422T>C (p.Val1141Ala)
c.1395T>C
c.*718T>C (n.*718T>C)
n.4361T>C
n.2962T>C
c.3473T>C (p.Val1158Ala)
c.3521T>C (p.Val1174Ala)
c.3581T>C (p.Val1194Ala)
c.3131T>C (p.Val1044Ala)
c.1433T>C (p.Val478Ala)
c.1250T>C (p.Val417Ala)
c.3482T>C (p.Val1161Ala)
c.3434T>C (p.Val1145Ala)
c.3203T>C (p.Val1068Ala)
c.3104T>C (p.Val1035Ala)
c.2285T>C (p.Val762Ala)
n.3836T>C
13g.51939133A>TCA388024256ATP7Bc.*1267T>A (n.*1267T>A)
c.*2361T>A (n.*2361T>A)
c.2996T>A (p.Val999Glu)
c.3617T>A (p.Val1206Glu)
c.3284T>A (p.Val1095Glu)
c.3365T>A (p.Val1122Glu)
n.858T>A
c.3383T>A (p.Val1128Glu)
n.3756T>A
n.483T>A
c.2552T>A (p.Val851Glu)
c.2327T>A (p.Val776Glu)
c.3422T>A (p.Val1141Glu)
c.1395T>A
c.*718T>A (n.*718T>A)
n.4361T>A
n.2962T>A
c.3473T>A (p.Val1158Glu)
c.3521T>A (p.Val1174Glu)
c.3581T>A (p.Val1194Glu)
c.3131T>A (p.Val1044Glu)
c.1433T>A (p.Val478Glu)
c.1250T>A (p.Val417Glu)
c.3482T>A (p.Val1161Glu)
c.3434T>A (p.Val1145Glu)
c.3203T>A (p.Val1068Glu)
c.3104T>A (p.Val1035Glu)
c.2285T>A (p.Val762Glu)
n.3836T>A
13g.51939134C>ACA388024262ATP7Bc.*1266G>T (n.*1266G>T)
c.*2360G>T (n.*2360G>T)
c.2995G>T (p.Val999Leu)
c.3616G>T (p.Val1206Leu)
c.3283G>T (p.Val1095Leu)
c.3364G>T (p.Val1122Leu)
n.857G>T
c.3382G>T (p.Val1128Leu)
n.3755G>T
n.482G>T
c.2551G>T (p.Val851Leu)
c.2326G>T (p.Val776Leu)
c.3421G>T (p.Val1141Leu)
c.1394G>T
c.*717G>T (n.*717G>T)
n.4360G>T
n.2961G>T
c.3472G>T (p.Val1158Leu)
c.3520G>T (p.Val1174Leu)
c.3580G>T (p.Val1194Leu)
c.3130G>T (p.Val1044Leu)
c.1432G>T (p.Val478Leu)
c.1249G>T (p.Val417Leu)
c.3481G>T (p.Val1161Leu)
c.3433G>T (p.Val1145Leu)
c.3202G>T (p.Val1068Leu)
c.3103G>T (p.Val1035Leu)
c.2284G>T (p.Val762Leu)
n.3835G>T
13g.51939134C>GCA388024263ATP7Bc.*1266G>C (n.*1266G>C)
c.*2360G>C (n.*2360G>C)
c.2995G>C (p.Val999Leu)
c.3616G>C (p.Val1206Leu)
c.3283G>C (p.Val1095Leu)
c.3364G>C (p.Val1122Leu)
n.857G>C
c.3382G>C (p.Val1128Leu)
n.3755G>C
n.482G>C
c.2551G>C (p.Val851Leu)
c.2326G>C (p.Val776Leu)
c.3421G>C (p.Val1141Leu)
c.1394G>C
c.*717G>C (n.*717G>C)
n.4360G>C
n.2961G>C
c.3472G>C (p.Val1158Leu)
c.3520G>C (p.Val1174Leu)
c.3580G>C (p.Val1194Leu)
c.3130G>C (p.Val1044Leu)
c.1432G>C (p.Val478Leu)
c.1249G>C (p.Val417Leu)
c.3481G>C (p.Val1161Leu)
c.3433G>C (p.Val1145Leu)
c.3202G>C (p.Val1068Leu)
c.3103G>C (p.Val1035Leu)
c.2284G>C (p.Val762Leu)
n.3835G>C
 ClinVar
13g.51939134C>TCA388024264ATP7Bc.*1266G>A (n.*1266G>A)
c.*2360G>A (n.*2360G>A)
c.2995G>A (p.Val999Met)
c.3616G>A (p.Val1206Met)
c.3283G>A (p.Val1095Met)
c.3364G>A (p.Val1122Met)
n.857G>A
c.3382G>A (p.Val1128Met)
n.3755G>A
n.482G>A
c.2551G>A (p.Val851Met)
c.2326G>A (p.Val776Met)
c.3421G>A (p.Val1141Met)
c.1394G>A
c.*717G>A (n.*717G>A)
n.4360G>A
n.2961G>A
c.3472G>A (p.Val1158Met)
c.3520G>A (p.Val1174Met)
c.3580G>A (p.Val1194Met)
c.3130G>A (p.Val1044Met)
c.1432G>A (p.Val478Met)
c.1249G>A (p.Val417Met)
c.3481G>A (p.Val1161Met)
c.3433G>A (p.Val1145Met)
c.3202G>A (p.Val1068Met)
c.3103G>A (p.Val1035Met)
c.2284G>A (p.Val762Met)
n.3835G>A
 COSMIC
13g.51939135A=CA2091556850ATP7Bc.*1265T= (n.*1265T=)
c.*2359T= (n.*2359T=)
c.2994T= (p.Ala998=)
c.3615T= (p.Ala1205=)
c.3282T= (p.Ala1094=)
c.3363T= (p.Ala1121=)
n.856T=
c.3381T= (p.Ala1127=)
n.3754T=
n.481T=
c.2550T= (p.Ala850=)
c.2325T= (p.Ala775=)
c.3420T= (p.Ala1140=)
c.1393T=
c.*716T= (n.*716T=)
n.4359T=
n.2960T=
c.3471T= (p.Ala1157=)
c.3519T= (p.Ala1173=)
c.3579T= (p.Ala1193=)
c.3129T= (p.Ala1043=)
c.1431T= (p.Ala477=)
c.1248T= (p.Ala416=)
c.3480T= (p.Ala1160=)
c.3432T= (p.Ala1144=)
c.3201T= (p.Ala1067=)
c.3102T= (p.Ala1034=)
c.2283T= (p.Ala761=)
n.3834T=
13g.51939135A>CCA483893782ATP7Bc.*1265T>G (n.*1265T>G)
c.*2359T>G (n.*2359T>G)
c.2994T>G (p.Ala998=)
c.3615T>G (p.Ala1205=)
c.3282T>G (p.Ala1094=)
c.3363T>G (p.Ala1121=)
n.856T>G
c.3381T>G (p.Ala1127=)
n.3754T>G
n.481T>G
c.2550T>G (p.Ala850=)
c.2325T>G (p.Ala775=)
c.3420T>G (p.Ala1140=)
c.1393T>G
c.*716T>G (n.*716T>G)
n.4359T>G
n.2960T>G
c.3471T>G (p.Ala1157=)
c.3519T>G (p.Ala1173=)
c.3579T>G (p.Ala1193=)
c.3129T>G (p.Ala1043=)
c.1431T>G (p.Ala477=)
c.1248T>G (p.Ala416=)
c.3480T>G (p.Ala1160=)
c.3432T>G (p.Ala1144=)
c.3201T>G (p.Ala1067=)
c.3102T>G (p.Ala1034=)
c.2283T>G (p.Ala761=)
n.3834T>G
13g.51939135A>GCA6988624ATP7Bc.*1265T>C (n.*1265T>C)
c.*2359T>C (n.*2359T>C)
c.2994T>C (p.Ala998=)
c.3615T>C (p.Ala1205=)
c.3282T>C (p.Ala1094=)
c.3363T>C (p.Ala1121=)
n.856T>C
c.3381T>C (p.Ala1127=)
n.3754T>C
n.481T>C
c.2550T>C (p.Ala850=)
c.2325T>C (p.Ala775=)
c.3420T>C (p.Ala1140=)
c.1393T>C
c.*716T>C (n.*716T>C)
n.4359T>C
n.2960T>C
c.3471T>C (p.Ala1157=)
c.3519T>C (p.Ala1173=)
c.3579T>C (p.Ala1193=)
c.3129T>C (p.Ala1043=)
c.1431T>C (p.Ala477=)
c.1248T>C (p.Ala416=)
c.3480T>C (p.Ala1160=)
c.3432T>C (p.Ala1144=)
c.3201T>C (p.Ala1067=)
c.3102T>C (p.Ala1034=)
c.2283T>C (p.Ala761=)
n.3834T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939135A>TCA483893779ATP7Bc.*1265T>A (n.*1265T>A)
c.*2359T>A (n.*2359T>A)
c.2994T>A (p.Ala998=)
c.3615T>A (p.Ala1205=)
c.3282T>A (p.Ala1094=)
c.3363T>A (p.Ala1121=)
n.856T>A
c.3381T>A (p.Ala1127=)
n.3754T>A
n.481T>A
c.2550T>A (p.Ala850=)
c.2325T>A (p.Ala775=)
c.3420T>A (p.Ala1140=)
c.1393T>A
c.*716T>A (n.*716T>A)
n.4359T>A
n.2960T>A
c.3471T>A (p.Ala1157=)
c.3519T>A (p.Ala1173=)
c.3579T>A (p.Ala1193=)
c.3129T>A (p.Ala1043=)
c.1431T>A (p.Ala477=)
c.1248T>A (p.Ala416=)
c.3480T>A (p.Ala1160=)
c.3432T>A (p.Ala1144=)
c.3201T>A (p.Ala1067=)
c.3102T>A (p.Ala1034=)
c.2283T>A (p.Ala761=)
n.3834T>A
13g.51939136G>ACA388024265ATP7Bc.*1264C>T (n.*1264C>T)
c.*2358C>T (n.*2358C>T)
c.2993C>T (p.Ala998Val)
c.3614C>T (p.Ala1205Val)
c.3281C>T (p.Ala1094Val)
c.3362C>T (p.Ala1121Val)
n.855C>T
c.3380C>T (p.Ala1127Val)
n.3753C>T
n.480C>T
c.2549C>T (p.Ala850Val)
c.2324C>T (p.Ala775Val)
c.3419C>T (p.Ala1140Val)
c.1392C>T
c.*715C>T (n.*715C>T)
n.4358C>T
n.2959C>T
c.3470C>T (p.Ala1157Val)
c.3518C>T (p.Ala1173Val)
c.3578C>T (p.Ala1193Val)
c.3128C>T (p.Ala1043Val)
c.1430C>T (p.Ala477Val)
c.1247C>T (p.Ala416Val)
c.3479C>T (p.Ala1160Val)
c.3431C>T (p.Ala1144Val)
c.3200C>T (p.Ala1067Val)
c.3101C>T (p.Ala1034Val)
c.2282C>T (p.Ala761Val)
n.3833C>T
 dbSNP
13g.51939136G>CCA388024266ATP7Bc.*1264C>G (n.*1264C>G)
c.*2358C>G (n.*2358C>G)
c.2993C>G (p.Ala998Gly)
c.3614C>G (p.Ala1205Gly)
c.3281C>G (p.Ala1094Gly)
c.3362C>G (p.Ala1121Gly)
n.855C>G
c.3380C>G (p.Ala1127Gly)
n.3753C>G
n.480C>G
c.2549C>G (p.Ala850Gly)
c.2324C>G (p.Ala775Gly)
c.3419C>G (p.Ala1140Gly)
c.1392C>G
c.*715C>G (n.*715C>G)
n.4358C>G
n.2959C>G
c.3470C>G (p.Ala1157Gly)
c.3518C>G (p.Ala1173Gly)
c.3578C>G (p.Ala1193Gly)
c.3128C>G (p.Ala1043Gly)
c.1430C>G (p.Ala477Gly)
c.1247C>G (p.Ala416Gly)
c.3479C>G (p.Ala1160Gly)
c.3431C>G (p.Ala1144Gly)
c.3200C>G (p.Ala1067Gly)
c.3101C>G (p.Ala1034Gly)
c.2282C>G (p.Ala761Gly)
n.3833C>G
13g.51939136G=CA2091556857ATP7Bc.*1264C= (n.*1264C=)
c.*2358C= (n.*2358C=)
c.2993C= (p.Ala998=)
c.3614C= (p.Ala1205=)
c.3281C= (p.Ala1094=)
c.3362C= (p.Ala1121=)
n.855C=
c.3380C= (p.Ala1127=)
n.3753C=
n.480C=
c.2549C= (p.Ala850=)
c.2324C= (p.Ala775=)
c.3419C= (p.Ala1140=)
c.1392C=
c.*715C= (n.*715C=)
n.4358C=
n.2959C=
c.3470C= (p.Ala1157=)
c.3518C= (p.Ala1173=)
c.3578C= (p.Ala1193=)
c.3128C= (p.Ala1043=)
c.1430C= (p.Ala477=)
c.1247C= (p.Ala416=)
c.3479C= (p.Ala1160=)
c.3431C= (p.Ala1144=)
c.3200C= (p.Ala1067=)
c.3101C= (p.Ala1034=)
c.2282C= (p.Ala761=)
n.3833C=
13g.51939136G>TCA388024270ATP7Bc.*1264C>A (n.*1264C>A)
c.*2358C>A (n.*2358C>A)
c.2993C>A (p.Ala998Asp)
c.3614C>A (p.Ala1205Asp)
c.3281C>A (p.Ala1094Asp)
c.3362C>A (p.Ala1121Asp)
n.855C>A
c.3380C>A (p.Ala1127Asp)
n.3753C>A
n.480C>A
c.2549C>A (p.Ala850Asp)
c.2324C>A (p.Ala775Asp)
c.3419C>A (p.Ala1140Asp)
c.1392C>A
c.*715C>A (n.*715C>A)
n.4358C>A
n.2959C>A
c.3470C>A (p.Ala1157Asp)
c.3518C>A (p.Ala1173Asp)
c.3578C>A (p.Ala1193Asp)
c.3128C>A (p.Ala1043Asp)
c.1430C>A (p.Ala477Asp)
c.1247C>A (p.Ala416Asp)
c.3479C>A (p.Ala1160Asp)
c.3431C>A (p.Ala1144Asp)
c.3200C>A (p.Ala1067Asp)
c.3101C>A (p.Ala1034Asp)
c.2282C>A (p.Ala761Asp)
n.3833C>A
13g.51939137C>ACA388024273ATP7Bc.*1263G>T (n.*1263G>T)
c.*2357G>T (n.*2357G>T)
c.2992G>T (p.Ala998Ser)
c.3613G>T (p.Ala1205Ser)
c.3280G>T (p.Ala1094Ser)
c.3361G>T (p.Ala1121Ser)
n.854G>T
c.3379G>T (p.Ala1127Ser)
n.3752G>T
n.479G>T
c.2548G>T (p.Ala850Ser)
c.2323G>T (p.Ala775Ser)
c.3418G>T (p.Ala1140Ser)
c.1391G>T
c.*714G>T (n.*714G>T)
n.4357G>T
n.2958G>T
c.3469G>T (p.Ala1157Ser)
c.3517G>T (p.Ala1173Ser)
c.3577G>T (p.Ala1193Ser)
c.3127G>T (p.Ala1043Ser)
c.1429G>T (p.Ala477Ser)
c.1246G>T (p.Ala416Ser)
c.3478G>T (p.Ala1160Ser)
c.3430G>T (p.Ala1144Ser)
c.3199G>T (p.Ala1067Ser)
c.3100G>T (p.Ala1034Ser)
c.2281G>T (p.Ala761Ser)
n.3832G>T
 gnomAD v4
13g.51939137C>GCA388024277ATP7Bc.*1263G>C (n.*1263G>C)
c.*2357G>C (n.*2357G>C)
c.2992G>C (p.Ala998Pro)
c.3613G>C (p.Ala1205Pro)
c.3280G>C (p.Ala1094Pro)
c.3361G>C (p.Ala1121Pro)
n.854G>C
c.3379G>C (p.Ala1127Pro)
n.3752G>C
n.479G>C
c.2548G>C (p.Ala850Pro)
c.2323G>C (p.Ala775Pro)
c.3418G>C (p.Ala1140Pro)
c.1391G>C
c.*714G>C (n.*714G>C)
n.4357G>C
n.2958G>C
c.3469G>C (p.Ala1157Pro)
c.3517G>C (p.Ala1173Pro)
c.3577G>C (p.Ala1193Pro)
c.3127G>C (p.Ala1043Pro)
c.1429G>C (p.Ala477Pro)
c.1246G>C (p.Ala416Pro)
c.3478G>C (p.Ala1160Pro)
c.3430G>C (p.Ala1144Pro)
c.3199G>C (p.Ala1067Pro)
c.3100G>C (p.Ala1034Pro)
c.2281G>C (p.Ala761Pro)
n.3832G>C
13g.51939137C>TCA388024279ATP7Bc.*1263G>A (n.*1263G>A)
c.*2357G>A (n.*2357G>A)
c.2992G>A (p.Ala998Thr)
c.3613G>A (p.Ala1205Thr)
c.3280G>A (p.Ala1094Thr)
c.3361G>A (p.Ala1121Thr)
n.854G>A
c.3379G>A (p.Ala1127Thr)
n.3752G>A
n.479G>A
c.2548G>A (p.Ala850Thr)
c.2323G>A (p.Ala775Thr)
c.3418G>A (p.Ala1140Thr)
c.1391G>A
c.*714G>A (n.*714G>A)
n.4357G>A
n.2958G>A
c.3469G>A (p.Ala1157Thr)
c.3517G>A (p.Ala1173Thr)
c.3577G>A (p.Ala1193Thr)
c.3127G>A (p.Ala1043Thr)
c.1429G>A (p.Ala477Thr)
c.1246G>A (p.Ala416Thr)
c.3478G>A (p.Ala1160Thr)
c.3430G>A (p.Ala1144Thr)
c.3199G>A (p.Ala1067Thr)
c.3100G>A (p.Ala1034Thr)
c.2281G>A (p.Ala761Thr)
n.3832G>A
 ClinVar COSMIC
13g.51939138C>ACA483893784ATP7Bc.*1262G>T (n.*1262G>T)
c.*2356G>T (n.*2356G>T)
c.2991G>T (p.Leu997=)
c.3612G>T (p.Leu1204=)
c.3279G>T (p.Leu1093=)
c.3360G>T (p.Leu1120=)
n.853G>T
c.3378G>T (p.Leu1126=)
n.3751G>T
n.478G>T
c.2547G>T (p.Leu849=)
c.2322G>T (p.Leu774=)
c.3417G>T (p.Leu1139=)
c.1390G>T
c.*713G>T (n.*713G>T)
n.4356G>T
n.2957G>T
c.3468G>T (p.Leu1156=)
c.3516G>T (p.Leu1172=)
c.3576G>T (p.Leu1192=)
c.3126G>T (p.Leu1042=)
c.1428G>T (p.Leu476=)
c.1245G>T (p.Leu415=)
c.3477G>T (p.Leu1159=)
c.3429G>T (p.Leu1143=)
c.3198G>T (p.Leu1066=)
c.3099G>T (p.Leu1033=)
c.2280G>T (p.Leu760=)
n.3831G>T
13g.51939138C=CA2091556861ATP7Bc.*1262G= (n.*1262G=)
c.*2356G= (n.*2356G=)
c.2991G= (p.Leu997=)
c.3612G= (p.Leu1204=)
c.3279G= (p.Leu1093=)
c.3360G= (p.Leu1120=)
n.853G=
c.3378G= (p.Leu1126=)
n.3751G=
n.478G=
c.2547G= (p.Leu849=)
c.2322G= (p.Leu774=)
c.3417G= (p.Leu1139=)
c.1390G=
c.*713G= (n.*713G=)
n.4356G=
n.2957G=
c.3468G= (p.Leu1156=)
c.3516G= (p.Leu1172=)
c.3576G= (p.Leu1192=)
c.3126G= (p.Leu1042=)
c.1428G= (p.Leu476=)
c.1245G= (p.Leu415=)
c.3477G= (p.Leu1159=)
c.3429G= (p.Leu1143=)
c.3198G= (p.Leu1066=)
c.3099G= (p.Leu1033=)
c.2280G= (p.Leu760=)
n.3831G=
13g.51939138C>GCA483893785ATP7Bc.*1262G>C (n.*1262G>C)
c.*2356G>C (n.*2356G>C)
c.2991G>C (p.Leu997=)
c.3612G>C (p.Leu1204=)
c.3279G>C (p.Leu1093=)
c.3360G>C (p.Leu1120=)
n.853G>C
c.3378G>C (p.Leu1126=)
n.3751G>C
n.478G>C
c.2547G>C (p.Leu849=)
c.2322G>C (p.Leu774=)
c.3417G>C (p.Leu1139=)
c.1390G>C
c.*713G>C (n.*713G>C)
n.4356G>C
n.2957G>C
c.3468G>C (p.Leu1156=)
c.3516G>C (p.Leu1172=)
c.3576G>C (p.Leu1192=)
c.3126G>C (p.Leu1042=)
c.1428G>C (p.Leu476=)
c.1245G>C (p.Leu415=)
c.3477G>C (p.Leu1159=)
c.3429G>C (p.Leu1143=)
c.3198G>C (p.Leu1066=)
c.3099G>C (p.Leu1033=)
c.2280G>C (p.Leu760=)
n.3831G>C
13g.51939138C>TCA250075167ATP7Bc.*1262G>A (n.*1262G>A)
c.*2356G>A (n.*2356G>A)
c.2991G>A (p.Leu997=)
c.3612G>A (p.Leu1204=)
c.3279G>A (p.Leu1093=)
c.3360G>A (p.Leu1120=)
n.853G>A
c.3378G>A (p.Leu1126=)
n.3751G>A
n.478G>A
c.2547G>A (p.Leu849=)
c.2322G>A (p.Leu774=)
c.3417G>A (p.Leu1139=)
c.1390G>A
c.*713G>A (n.*713G>A)
n.4356G>A
n.2957G>A
c.3468G>A (p.Leu1156=)
c.3516G>A (p.Leu1172=)
c.3576G>A (p.Leu1192=)
c.3126G>A (p.Leu1042=)
c.1428G>A (p.Leu476=)
c.1245G>A (p.Leu415=)
c.3477G>A (p.Leu1159=)
c.3429G>A (p.Leu1143=)
c.3198G>A (p.Leu1066=)
c.3099G>A (p.Leu1033=)
c.2280G>A (p.Leu760=)
n.3831G>A
 ClinVar dbSNP gnomAD v4
13g.51939139A>CCA388024280ATP7Bc.*1261T>G (n.*1261T>G)
c.*2355T>G (n.*2355T>G)
c.2990T>G (p.Leu997Arg)
c.3611T>G (p.Leu1204Arg)
c.3278T>G (p.Leu1093Arg)
c.3359T>G (p.Leu1120Arg)
n.852T>G
c.3377T>G (p.Leu1126Arg)
n.3750T>G
n.477T>G
c.2546T>G (p.Leu849Arg)
c.2321T>G (p.Leu774Arg)
c.3416T>G (p.Leu1139Arg)
c.1389T>G
c.*712T>G (n.*712T>G)
n.4355T>G
n.2956T>G
c.3467T>G (p.Leu1156Arg)
c.3515T>G (p.Leu1172Arg)
c.3575T>G (p.Leu1192Arg)
c.3125T>G (p.Leu1042Arg)
c.1427T>G (p.Leu476Arg)
c.1244T>G (p.Leu415Arg)
c.3476T>G (p.Leu1159Arg)
c.3428T>G (p.Leu1143Arg)
c.3197T>G (p.Leu1066Arg)
c.3098T>G (p.Leu1033Arg)
c.2279T>G (p.Leu760Arg)
n.3830T>G
 gnomAD v4
13g.51939139A>GCA388024284ATP7Bc.*1261T>C (n.*1261T>C)
c.*2355T>C (n.*2355T>C)
c.2990T>C (p.Leu997Pro)
c.3611T>C (p.Leu1204Pro)
c.3278T>C (p.Leu1093Pro)
c.3359T>C (p.Leu1120Pro)
n.852T>C
c.3377T>C (p.Leu1126Pro)
n.3750T>C
n.477T>C
c.2546T>C (p.Leu849Pro)
c.2321T>C (p.Leu774Pro)
c.3416T>C (p.Leu1139Pro)
c.1389T>C
c.*712T>C (n.*712T>C)
n.4355T>C
n.2956T>C
c.3467T>C (p.Leu1156Pro)
c.3515T>C (p.Leu1172Pro)
c.3575T>C (p.Leu1192Pro)
c.3125T>C (p.Leu1042Pro)
c.1427T>C (p.Leu476Pro)
c.1244T>C (p.Leu415Pro)
c.3476T>C (p.Leu1159Pro)
c.3428T>C (p.Leu1143Pro)
c.3197T>C (p.Leu1066Pro)
c.3098T>C (p.Leu1033Pro)
c.2279T>C (p.Leu760Pro)
n.3830T>C
13g.51939139A>TCA388024286ATP7Bc.*1261T>A (n.*1261T>A)
c.*2355T>A (n.*2355T>A)
c.2990T>A (p.Leu997Gln)
c.3611T>A (p.Leu1204Gln)
c.3278T>A (p.Leu1093Gln)
c.3359T>A (p.Leu1120Gln)
n.852T>A
c.3377T>A (p.Leu1126Gln)
n.3750T>A
n.477T>A
c.2546T>A (p.Leu849Gln)
c.2321T>A (p.Leu774Gln)
c.3416T>A (p.Leu1139Gln)
c.1389T>A
c.*712T>A (n.*712T>A)
n.4355T>A
n.2956T>A
c.3467T>A (p.Leu1156Gln)
c.3515T>A (p.Leu1172Gln)
c.3575T>A (p.Leu1192Gln)
c.3125T>A (p.Leu1042Gln)
c.1427T>A (p.Leu476Gln)
c.1244T>A (p.Leu415Gln)
c.3476T>A (p.Leu1159Gln)
c.3428T>A (p.Leu1143Gln)
c.3197T>A (p.Leu1066Gln)
c.3098T>A (p.Leu1033Gln)
c.2279T>A (p.Leu760Gln)
n.3830T>A
13g.51939140G>ACA483893787ATP7Bc.*1260C>T (n.*1260C>T)
c.*2354C>T (n.*2354C>T)
c.2989C>T (p.Leu997=)
c.3610C>T (p.Leu1204=)
c.3277C>T (p.Leu1093=)
c.3358C>T (p.Leu1120=)
n.851C>T
c.3376C>T (p.Leu1126=)
n.3749C>T
n.476C>T
c.2545C>T (p.Leu849=)
c.2320C>T (p.Leu774=)
c.3415C>T (p.Leu1139=)
c.1388C>T
c.*711C>T (n.*711C>T)
n.4354C>T
n.2955C>T
c.3466C>T (p.Leu1156=)
c.3514C>T (p.Leu1172=)
c.3574C>T (p.Leu1192=)
c.3124C>T (p.Leu1042=)
c.1426C>T (p.Leu476=)
c.1243C>T (p.Leu415=)
c.3475C>T (p.Leu1159=)
c.3427C>T (p.Leu1143=)
c.3196C>T (p.Leu1066=)
c.3097C>T (p.Leu1033=)
c.2278C>T (p.Leu760=)
n.3829C>T
 ClinVar
13g.51939140G>CCA388024289ATP7Bc.*1260C>G (n.*1260C>G)
c.*2354C>G (n.*2354C>G)
c.2989C>G (p.Leu997Val)
c.3610C>G (p.Leu1204Val)
c.3277C>G (p.Leu1093Val)
c.3358C>G (p.Leu1120Val)
n.851C>G
c.3376C>G (p.Leu1126Val)
n.3749C>G
n.476C>G
c.2545C>G (p.Leu849Val)
c.2320C>G (p.Leu774Val)
c.3415C>G (p.Leu1139Val)
c.1388C>G
c.*711C>G (n.*711C>G)
n.4354C>G
n.2955C>G
c.3466C>G (p.Leu1156Val)
c.3514C>G (p.Leu1172Val)
c.3574C>G (p.Leu1192Val)
c.3124C>G (p.Leu1042Val)
c.1426C>G (p.Leu476Val)
c.1243C>G (p.Leu415Val)
c.3475C>G (p.Leu1159Val)
c.3427C>G (p.Leu1143Val)
c.3196C>G (p.Leu1066Val)
c.3097C>G (p.Leu1033Val)
c.2278C>G (p.Leu760Val)
n.3829C>G
13g.51939140G>TCA388024288ATP7Bc.*1260C>A (n.*1260C>A)
c.*2354C>A (n.*2354C>A)
c.2989C>A (p.Leu997Met)
c.3610C>A (p.Leu1204Met)
c.3277C>A (p.Leu1093Met)
c.3358C>A (p.Leu1120Met)
n.851C>A
c.3376C>A (p.Leu1126Met)
n.3749C>A
n.476C>A
c.2545C>A (p.Leu849Met)
c.2320C>A (p.Leu774Met)
c.3415C>A (p.Leu1139Met)
c.1388C>A
c.*711C>A (n.*711C>A)
n.4354C>A
n.2955C>A
c.3466C>A (p.Leu1156Met)
c.3514C>A (p.Leu1172Met)
c.3574C>A (p.Leu1192Met)
c.3124C>A (p.Leu1042Met)
c.1426C>A (p.Leu476Met)
c.1243C>A (p.Leu415Met)
c.3475C>A (p.Leu1159Met)
c.3427C>A (p.Leu1143Met)
c.3196C>A (p.Leu1066Met)
c.3097C>A (p.Leu1033Met)
c.2278C>A (p.Leu760Met)
n.3829C>A
13g.51939141G>ACA250075168ATP7Bc.*1259C>T (n.*1259C>T)
c.*2353C>T (n.*2353C>T)
c.2988C>T (p.Ala996=)
c.3609C>T (p.Ala1203=)
c.3276C>T (p.Ala1092=)
c.3357C>T (p.Ala1119=)
n.850C>T
c.3375C>T (p.Ala1125=)
n.3748C>T
n.475C>T
c.2544C>T (p.Ala848=)
c.2319C>T (p.Ala773=)
c.3414C>T (p.Ala1138=)
c.1387C>T
c.*710C>T (n.*710C>T)
n.4353C>T
n.2954C>T
c.3465C>T (p.Ala1155=)
c.3513C>T (p.Ala1171=)
c.3573C>T (p.Ala1191=)
c.3123C>T (p.Ala1041=)
c.1425C>T (p.Ala475=)
c.1242C>T (p.Ala414=)
c.3474C>T (p.Ala1158=)
c.3426C>T (p.Ala1142=)
c.3195C>T (p.Ala1065=)
c.3096C>T (p.Ala1032=)
c.2277C>T (p.Ala759=)
n.3828C>T
 ClinVar dbSNP gnomAD v4
13g.51939141G>CCA483893788ATP7Bc.*1259C>G (n.*1259C>G)
c.*2353C>G (n.*2353C>G)
c.2988C>G (p.Ala996=)
c.3609C>G (p.Ala1203=)
c.3276C>G (p.Ala1092=)
c.3357C>G (p.Ala1119=)
n.850C>G
c.3375C>G (p.Ala1125=)
n.3748C>G
n.475C>G
c.2544C>G (p.Ala848=)
c.2319C>G (p.Ala773=)
c.3414C>G (p.Ala1138=)
c.1387C>G
c.*710C>G (n.*710C>G)
n.4353C>G
n.2954C>G
c.3465C>G (p.Ala1155=)
c.3513C>G (p.Ala1171=)
c.3573C>G (p.Ala1191=)
c.3123C>G (p.Ala1041=)
c.1425C>G (p.Ala475=)
c.1242C>G (p.Ala414=)
c.3474C>G (p.Ala1158=)
c.3426C>G (p.Ala1142=)
c.3195C>G (p.Ala1065=)
c.3096C>G (p.Ala1032=)
c.2277C>G (p.Ala759=)
n.3828C>G
13g.51939141G=CA2091556866ATP7Bc.*1259C= (n.*1259C=)
c.*2353C= (n.*2353C=)
c.2988C= (p.Ala996=)
c.3609C= (p.Ala1203=)
c.3276C= (p.Ala1092=)
c.3357C= (p.Ala1119=)
n.850C=
c.3375C= (p.Ala1125=)
n.3748C=
n.475C=
c.2544C= (p.Ala848=)
c.2319C= (p.Ala773=)
c.3414C= (p.Ala1138=)
c.1387C=
c.*710C= (n.*710C=)
n.4353C=
n.2954C=
c.3465C= (p.Ala1155=)
c.3513C= (p.Ala1171=)
c.3573C= (p.Ala1191=)
c.3123C= (p.Ala1041=)
c.1425C= (p.Ala475=)
c.1242C= (p.Ala414=)
c.3474C= (p.Ala1158=)
c.3426C= (p.Ala1142=)
c.3195C= (p.Ala1065=)
c.3096C= (p.Ala1032=)
c.2277C= (p.Ala759=)
n.3828C=
13g.51939141G>TCA483893789ATP7Bc.*1259C>A (n.*1259C>A)
c.*2353C>A (n.*2353C>A)
c.2988C>A (p.Ala996=)
c.3609C>A (p.Ala1203=)
c.3276C>A (p.Ala1092=)
c.3357C>A (p.Ala1119=)
n.850C>A
c.3375C>A (p.Ala1125=)
n.3748C>A
n.475C>A
c.2544C>A (p.Ala848=)
c.2319C>A (p.Ala773=)
c.3414C>A (p.Ala1138=)
c.1387C>A
c.*710C>A (n.*710C>A)
n.4353C>A
n.2954C>A
c.3465C>A (p.Ala1155=)
c.3513C>A (p.Ala1171=)
c.3573C>A (p.Ala1191=)
c.3123C>A (p.Ala1041=)
c.1425C>A (p.Ala475=)
c.1242C>A (p.Ala414=)
c.3474C>A (p.Ala1158=)
c.3426C>A (p.Ala1142=)
c.3195C>A (p.Ala1065=)
c.3096C>A (p.Ala1032=)
c.2277C>A (p.Ala759=)
n.3828C>A
13g.51939142G>ACA388024290ATP7Bc.*1258C>T (n.*1258C>T)
c.*2352C>T (n.*2352C>T)
c.2987C>T (p.Ala996Val)
c.3608C>T (p.Ala1203Val)
c.3275C>T (p.Ala1092Val)
c.3356C>T (p.Ala1119Val)
n.849C>T
c.3374C>T (p.Ala1125Val)
n.3747C>T
n.474C>T
c.2543C>T (p.Ala848Val)
c.2318C>T (p.Ala773Val)
c.3413C>T (p.Ala1138Val)
c.1386C>T
c.*709C>T (n.*709C>T)
n.4352C>T
n.2953C>T
c.3464C>T (p.Ala1155Val)
c.3512C>T (p.Ala1171Val)
c.3572C>T (p.Ala1191Val)
c.3122C>T (p.Ala1041Val)
c.1424C>T (p.Ala475Val)
c.1241C>T (p.Ala414Val)
c.3473C>T (p.Ala1158Val)
c.3425C>T (p.Ala1142Val)
c.3194C>T (p.Ala1065Val)
c.3095C>T (p.Ala1032Val)
c.2276C>T (p.Ala759Val)
n.3827C>T
 ClinVar gnomAD v4
13g.51939142G>CCA388024292ATP7Bc.*1258C>G (n.*1258C>G)
c.*2352C>G (n.*2352C>G)
c.2987C>G (p.Ala996Gly)
c.3608C>G (p.Ala1203Gly)
c.3275C>G (p.Ala1092Gly)
c.3356C>G (p.Ala1119Gly)
n.849C>G
c.3374C>G (p.Ala1125Gly)
n.3747C>G
n.474C>G
c.2543C>G (p.Ala848Gly)
c.2318C>G (p.Ala773Gly)
c.3413C>G (p.Ala1138Gly)
c.1386C>G
c.*709C>G (n.*709C>G)
n.4352C>G
n.2953C>G
c.3464C>G (p.Ala1155Gly)
c.3512C>G (p.Ala1171Gly)
c.3572C>G (p.Ala1191Gly)
c.3122C>G (p.Ala1041Gly)
c.1424C>G (p.Ala475Gly)
c.1241C>G (p.Ala414Gly)
c.3473C>G (p.Ala1158Gly)
c.3425C>G (p.Ala1142Gly)
c.3194C>G (p.Ala1065Gly)
c.3095C>G (p.Ala1032Gly)
c.2276C>G (p.Ala759Gly)
n.3827C>G
13g.51939142G=CA2091556869ATP7Bc.*1258C= (n.*1258C=)
c.*2352C= (n.*2352C=)
c.2987C= (p.Ala996=)
c.3608C= (p.Ala1203=)
c.3275C= (p.Ala1092=)
c.3356C= (p.Ala1119=)
n.849C=
c.3374C= (p.Ala1125=)
n.3747C=
n.474C=
c.2543C= (p.Ala848=)
c.2318C= (p.Ala773=)
c.3413C= (p.Ala1138=)
c.1386C=
c.*709C= (n.*709C=)
n.4352C=
n.2953C=
c.3464C= (p.Ala1155=)
c.3512C= (p.Ala1171=)
c.3572C= (p.Ala1191=)
c.3122C= (p.Ala1041=)
c.1424C= (p.Ala475=)
c.1241C= (p.Ala414=)
c.3473C= (p.Ala1158=)
c.3425C= (p.Ala1142=)
c.3194C= (p.Ala1065=)
c.3095C= (p.Ala1032=)
c.2276C= (p.Ala759=)
n.3827C=
13g.51939142G>TCA388024295ATP7Bc.*1258C>A (n.*1258C>A)
c.*2352C>A (n.*2352C>A)
c.2987C>A (p.Ala996Asp)
c.3608C>A (p.Ala1203Asp)
c.3275C>A (p.Ala1092Asp)
c.3356C>A (p.Ala1119Asp)
n.849C>A
c.3374C>A (p.Ala1125Asp)
n.3747C>A
n.474C>A
c.2543C>A (p.Ala848Asp)
c.2318C>A (p.Ala773Asp)
c.3413C>A (p.Ala1138Asp)
c.1386C>A
c.*709C>A (n.*709C>A)
n.4352C>A
n.2953C>A
c.3464C>A (p.Ala1155Asp)
c.3512C>A (p.Ala1171Asp)
c.3572C>A (p.Ala1191Asp)
c.3122C>A (p.Ala1041Asp)
c.1424C>A (p.Ala475Asp)
c.1241C>A (p.Ala414Asp)
c.3473C>A (p.Ala1158Asp)
c.3425C>A (p.Ala1142Asp)
c.3194C>A (p.Ala1065Asp)
c.3095C>A (p.Ala1032Asp)
c.2276C>A (p.Ala759Asp)
n.3827C>A
13g.51939143C>ACA388024299ATP7Bc.*1257G>T (n.*1257G>T)
c.*2351G>T (n.*2351G>T)
c.2986G>T (p.Ala996Ser)
c.3607G>T (p.Ala1203Ser)
c.3274G>T (p.Ala1092Ser)
c.3355G>T (p.Ala1119Ser)
n.848G>T
c.3373G>T (p.Ala1125Ser)
n.3746G>T
n.473G>T
c.2542G>T (p.Ala848Ser)
c.2317G>T (p.Ala773Ser)
c.3412G>T (p.Ala1138Ser)
c.1385G>T
c.*708G>T (n.*708G>T)
n.4351G>T
n.2952G>T
c.3463G>T (p.Ala1155Ser)
c.3511G>T (p.Ala1171Ser)
c.3571G>T (p.Ala1191Ser)
c.3121G>T (p.Ala1041Ser)
c.1423G>T (p.Ala475Ser)
c.1240G>T (p.Ala414Ser)
c.3472G>T (p.Ala1158Ser)
c.3424G>T (p.Ala1142Ser)
c.3193G>T (p.Ala1065Ser)
c.3094G>T (p.Ala1032Ser)
c.2275G>T (p.Ala759Ser)
n.3826G>T
13g.51939143C=CA2091556872ATP7Bc.*1257G= (n.*1257G=)
c.*2351G= (n.*2351G=)
c.2986G= (p.Ala996=)
c.3607G= (p.Ala1203=)
c.3274G= (p.Ala1092=)
c.3355G= (p.Ala1119=)
n.848G=
c.3373G= (p.Ala1125=)
n.3746G=
n.473G=
c.2542G= (p.Ala848=)
c.2317G= (p.Ala773=)
c.3412G= (p.Ala1138=)
c.1385G=
c.*708G= (n.*708G=)
n.4351G=
n.2952G=
c.3463G= (p.Ala1155=)
c.3511G= (p.Ala1171=)
c.3571G= (p.Ala1191=)
c.3121G= (p.Ala1041=)
c.1423G= (p.Ala475=)
c.1240G= (p.Ala414=)
c.3472G= (p.Ala1158=)
c.3424G= (p.Ala1142=)
c.3193G= (p.Ala1065=)
c.3094G= (p.Ala1032=)
c.2275G= (p.Ala759=)
n.3826G=
13g.51939143C>GCA388024301ATP7Bc.*1257G>C (n.*1257G>C)
c.*2351G>C (n.*2351G>C)
c.2986G>C (p.Ala996Pro)
c.3607G>C (p.Ala1203Pro)
c.3274G>C (p.Ala1092Pro)
c.3355G>C (p.Ala1119Pro)
n.848G>C
c.3373G>C (p.Ala1125Pro)
n.3746G>C
n.473G>C
c.2542G>C (p.Ala848Pro)
c.2317G>C (p.Ala773Pro)
c.3412G>C (p.Ala1138Pro)
c.1385G>C
c.*708G>C (n.*708G>C)
n.4351G>C
n.2952G>C
c.3463G>C (p.Ala1155Pro)
c.3511G>C (p.Ala1171Pro)
c.3571G>C (p.Ala1191Pro)
c.3121G>C (p.Ala1041Pro)
c.1423G>C (p.Ala475Pro)
c.1240G>C (p.Ala414Pro)
c.3472G>C (p.Ala1158Pro)
c.3424G>C (p.Ala1142Pro)
c.3193G>C (p.Ala1065Pro)
c.3094G>C (p.Ala1032Pro)
c.2275G>C (p.Ala759Pro)
n.3826G>C
 gnomAD v4
13g.51939143C>TCA388024302ATP7Bc.*1257G>A (n.*1257G>A)
c.*2351G>A (n.*2351G>A)
c.2986G>A (p.Ala996Thr)
c.3607G>A (p.Ala1203Thr)
c.3274G>A (p.Ala1092Thr)
c.3355G>A (p.Ala1119Thr)
n.848G>A
c.3373G>A (p.Ala1125Thr)
n.3746G>A
n.473G>A
c.2542G>A (p.Ala848Thr)
c.2317G>A (p.Ala773Thr)
c.3412G>A (p.Ala1138Thr)
c.1385G>A
c.*708G>A (n.*708G>A)
n.4351G>A
n.2952G>A
c.3463G>A (p.Ala1155Thr)
c.3511G>A (p.Ala1171Thr)
c.3571G>A (p.Ala1191Thr)
c.3121G>A (p.Ala1041Thr)
c.1423G>A (p.Ala475Thr)
c.1240G>A (p.Ala414Thr)
c.3472G>A (p.Ala1158Thr)
c.3424G>A (p.Ala1142Thr)
c.3193G>A (p.Ala1065Thr)
c.3094G>A (p.Ala1032Thr)
c.2275G>A (p.Ala759Thr)
n.3826G>A
 dbSNP gnomAD v4
13g.51939144A>CCA483893791ATP7Bc.*1256T>G (n.*1256T>G)
c.*2350T>G (n.*2350T>G)
c.2985T>G (p.Ala995=)
c.3606T>G (p.Ala1202=)
c.3273T>G (p.Ala1091=)
c.3354T>G (p.Ala1118=)
n.847T>G
c.3372T>G (p.Ala1124=)
n.3745T>G
n.472T>G
c.2541T>G (p.Ala847=)
c.2316T>G (p.Ala772=)
c.3411T>G (p.Ala1137=)
c.1384T>G
c.*707T>G (n.*707T>G)
n.4350T>G
n.2951T>G
c.3462T>G (p.Ala1154=)
c.3510T>G (p.Ala1170=)
c.3570T>G (p.Ala1190=)
c.3120T>G (p.Ala1040=)
c.1422T>G (p.Ala474=)
c.1239T>G (p.Ala413=)
c.3471T>G (p.Ala1157=)
c.3423T>G (p.Ala1141=)
c.3192T>G (p.Ala1064=)
c.3093T>G (p.Ala1031=)
c.2274T>G (p.Ala758=)
n.3825T>G
13g.51939144A>GCA483893792ATP7Bc.*1256T>C (n.*1256T>C)
c.*2350T>C (n.*2350T>C)
c.2985T>C (p.Ala995=)
c.3606T>C (p.Ala1202=)
c.3273T>C (p.Ala1091=)
c.3354T>C (p.Ala1118=)
n.847T>C
c.3372T>C (p.Ala1124=)
n.3745T>C
n.472T>C
c.2541T>C (p.Ala847=)
c.2316T>C (p.Ala772=)
c.3411T>C (p.Ala1137=)
c.1384T>C
c.*707T>C (n.*707T>C)
n.4350T>C
n.2951T>C
c.3462T>C (p.Ala1154=)
c.3510T>C (p.Ala1170=)
c.3570T>C (p.Ala1190=)
c.3120T>C (p.Ala1040=)
c.1422T>C (p.Ala474=)
c.1239T>C (p.Ala413=)
c.3471T>C (p.Ala1157=)
c.3423T>C (p.Ala1141=)
c.3192T>C (p.Ala1064=)
c.3093T>C (p.Ala1031=)
c.2274T>C (p.Ala758=)
n.3825T>C
13g.51939144A>TCA483893793ATP7Bc.*1256T>A (n.*1256T>A)
c.*2350T>A (n.*2350T>A)
c.2985T>A (p.Ala995=)
c.3606T>A (p.Ala1202=)
c.3273T>A (p.Ala1091=)
c.3354T>A (p.Ala1118=)
n.847T>A
c.3372T>A (p.Ala1124=)
n.3745T>A
n.472T>A
c.2541T>A (p.Ala847=)
c.2316T>A (p.Ala772=)
c.3411T>A (p.Ala1137=)
c.1384T>A
c.*707T>A (n.*707T>A)
n.4350T>A
n.2951T>A
c.3462T>A (p.Ala1154=)
c.3510T>A (p.Ala1170=)
c.3570T>A (p.Ala1190=)
c.3120T>A (p.Ala1040=)
c.1422T>A (p.Ala474=)
c.1239T>A (p.Ala413=)
c.3471T>A (p.Ala1157=)
c.3423T>A (p.Ala1141=)
c.3192T>A (p.Ala1064=)
c.3093T>A (p.Ala1031=)
c.2274T>A (p.Ala758=)
n.3825T>A
13g.51939145G>ACA6988625ATP7Bc.*1255C>T (n.*1255C>T)
c.*2349C>T (n.*2349C>T)
c.2984C>T (p.Ala995Val)
c.3605C>T (p.Ala1202Val)
c.3272C>T (p.Ala1091Val)
c.3353C>T (p.Ala1118Val)
n.846C>T
c.3371C>T (p.Ala1124Val)
n.3744C>T
n.471C>T
c.2540C>T (p.Ala847Val)
c.2315C>T (p.Ala772Val)
c.3410C>T (p.Ala1137Val)
c.1383C>T
c.*706C>T (n.*706C>T)
n.4349C>T
n.2950C>T
c.3461C>T (p.Ala1154Val)
c.3509C>T (p.Ala1170Val)
c.3569C>T (p.Ala1190Val)
c.3119C>T (p.Ala1040Val)
c.1421C>T (p.Ala474Val)
c.1238C>T (p.Ala413Val)
c.3470C>T (p.Ala1157Val)
c.3422C>T (p.Ala1141Val)
c.3191C>T (p.Ala1064Val)
c.3092C>T (p.Ala1031Val)
c.2273C>T (p.Ala758Val)
n.3824C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939145G>CCA388024303ATP7Bc.*1255C>G (n.*1255C>G)
c.*2349C>G (n.*2349C>G)
c.2984C>G (p.Ala995Gly)
c.3605C>G (p.Ala1202Gly)
c.3272C>G (p.Ala1091Gly)
c.3353C>G (p.Ala1118Gly)
n.846C>G
c.3371C>G (p.Ala1124Gly)
n.3744C>G
n.471C>G
c.2540C>G (p.Ala847Gly)
c.2315C>G (p.Ala772Gly)
c.3410C>G (p.Ala1137Gly)
c.1383C>G
c.*706C>G (n.*706C>G)
n.4349C>G
n.2950C>G
c.3461C>G (p.Ala1154Gly)
c.3509C>G (p.Ala1170Gly)
c.3569C>G (p.Ala1190Gly)
c.3119C>G (p.Ala1040Gly)
c.1421C>G (p.Ala474Gly)
c.1238C>G (p.Ala413Gly)
c.3470C>G (p.Ala1157Gly)
c.3422C>G (p.Ala1141Gly)
c.3191C>G (p.Ala1064Gly)
c.3092C>G (p.Ala1031Gly)
c.2273C>G (p.Ala758Gly)
n.3824C>G
13g.51939145G=CA2091556875ATP7Bc.*1255C= (n.*1255C=)
c.*2349C= (n.*2349C=)
c.2984C= (p.Ala995=)
c.3605C= (p.Ala1202=)
c.3272C= (p.Ala1091=)
c.3353C= (p.Ala1118=)
n.846C=
c.3371C= (p.Ala1124=)
n.3744C=
n.471C=
c.2540C= (p.Ala847=)
c.2315C= (p.Ala772=)
c.3410C= (p.Ala1137=)
c.1383C=
c.*706C= (n.*706C=)
n.4349C=
n.2950C=
c.3461C= (p.Ala1154=)
c.3509C= (p.Ala1170=)
c.3569C= (p.Ala1190=)
c.3119C= (p.Ala1040=)
c.1421C= (p.Ala474=)
c.1238C= (p.Ala413=)
c.3470C= (p.Ala1157=)
c.3422C= (p.Ala1141=)
c.3191C= (p.Ala1064=)
c.3092C= (p.Ala1031=)
c.2273C= (p.Ala758=)
n.3824C=
13g.51939145G>TCA388024313ATP7Bc.*1255C>A (n.*1255C>A)
c.*2349C>A (n.*2349C>A)
c.2984C>A (p.Ala995Asp)
c.3605C>A (p.Ala1202Asp)
c.3272C>A (p.Ala1091Asp)
c.3353C>A (p.Ala1118Asp)
n.846C>A
c.3371C>A (p.Ala1124Asp)
n.3744C>A
n.471C>A
c.2540C>A (p.Ala847Asp)
c.2315C>A (p.Ala772Asp)
c.3410C>A (p.Ala1137Asp)
c.1383C>A
c.*706C>A (n.*706C>A)
n.4349C>A
n.2950C>A
c.3461C>A (p.Ala1154Asp)
c.3509C>A (p.Ala1170Asp)
c.3569C>A (p.Ala1190Asp)
c.3119C>A (p.Ala1040Asp)
c.1421C>A (p.Ala474Asp)
c.1238C>A (p.Ala413Asp)
c.3470C>A (p.Ala1157Asp)
c.3422C>A (p.Ala1141Asp)
c.3191C>A (p.Ala1064Asp)
c.3092C>A (p.Ala1031Asp)
c.2273C>A (p.Ala758Asp)
n.3824C>A
 COSMIC
13g.51939146C>ACA388024320ATP7Bc.*1254G>T (n.*1254G>T)
c.*2348G>T (n.*2348G>T)
c.2983G>T (p.Ala995Ser)
c.3604G>T (p.Ala1202Ser)
c.3271G>T (p.Ala1091Ser)
c.3352G>T (p.Ala1118Ser)
n.845G>T
c.3370G>T (p.Ala1124Ser)
n.3743G>T
n.470G>T
c.2539G>T (p.Ala847Ser)
c.2314G>T (p.Ala772Ser)
c.3409G>T (p.Ala1137Ser)
c.1382G>T
c.*705G>T (n.*705G>T)
n.4348G>T
n.2949G>T
c.3460G>T (p.Ala1154Ser)
c.3508G>T (p.Ala1170Ser)
c.3568G>T (p.Ala1190Ser)
c.3118G>T (p.Ala1040Ser)
c.1420G>T (p.Ala474Ser)
c.1237G>T (p.Ala413Ser)
c.3469G>T (p.Ala1157Ser)
c.3421G>T (p.Ala1141Ser)
c.3190G>T (p.Ala1064Ser)
c.3091G>T (p.Ala1031Ser)
c.2272G>T (p.Ala758Ser)
n.3823G>T
13g.51939146C>GCA388024322ATP7Bc.*1254G>C (n.*1254G>C)
c.*2348G>C (n.*2348G>C)
c.2983G>C (p.Ala995Pro)
c.3604G>C (p.Ala1202Pro)
c.3271G>C (p.Ala1091Pro)
c.3352G>C (p.Ala1118Pro)
n.845G>C
c.3370G>C (p.Ala1124Pro)
n.3743G>C
n.470G>C
c.2539G>C (p.Ala847Pro)
c.2314G>C (p.Ala772Pro)
c.3409G>C (p.Ala1137Pro)
c.1382G>C
c.*705G>C (n.*705G>C)
n.4348G>C
n.2949G>C
c.3460G>C (p.Ala1154Pro)
c.3508G>C (p.Ala1170Pro)
c.3568G>C (p.Ala1190Pro)
c.3118G>C (p.Ala1040Pro)
c.1420G>C (p.Ala474Pro)
c.1237G>C (p.Ala413Pro)
c.3469G>C (p.Ala1157Pro)
c.3421G>C (p.Ala1141Pro)
c.3190G>C (p.Ala1064Pro)
c.3091G>C (p.Ala1031Pro)
c.2272G>C (p.Ala758Pro)
n.3823G>C
13g.51939146C>TCA388024323ATP7Bc.*1254G>A (n.*1254G>A)
c.*2348G>A (n.*2348G>A)
c.2983G>A (p.Ala995Thr)
c.3604G>A (p.Ala1202Thr)
c.3271G>A (p.Ala1091Thr)
c.3352G>A (p.Ala1118Thr)
n.845G>A
c.3370G>A (p.Ala1124Thr)
n.3743G>A
n.470G>A
c.2539G>A (p.Ala847Thr)
c.2314G>A (p.Ala772Thr)
c.3409G>A (p.Ala1137Thr)
c.1382G>A
c.*705G>A (n.*705G>A)
n.4348G>A
n.2949G>A
c.3460G>A (p.Ala1154Thr)
c.3508G>A (p.Ala1170Thr)
c.3568G>A (p.Ala1190Thr)
c.3118G>A (p.Ala1040Thr)
c.1420G>A (p.Ala474Thr)
c.1237G>A (p.Ala413Thr)
c.3469G>A (p.Ala1157Thr)
c.3421G>A (p.Ala1141Thr)
c.3190G>A (p.Ala1064Thr)
c.3091G>A (p.Ala1031Thr)
c.2272G>A (p.Ala758Thr)
n.3823G>A
13g.51939147C>ACA388024324ATP7Bc.*1253G>T (n.*1253G>T)
c.*2347G>T (n.*2347G>T)
c.2982G>T (p.Glu994Asp)
c.3603G>T (p.Glu1201Asp)
c.3270G>T (p.Glu1090Asp)
c.3351G>T (p.Glu1117Asp)
n.844G>T
c.3369G>T (p.Glu1123Asp)
n.3742G>T
n.469G>T
c.2538G>T (p.Glu846Asp)
c.2313G>T (p.Glu771Asp)
c.3408G>T (p.Glu1136Asp)
c.1381G>T
c.*704G>T (n.*704G>T)
n.4347G>T
n.2948G>T
c.3459G>T (p.Glu1153Asp)
c.3507G>T (p.Glu1169Asp)
c.3567G>T (p.Glu1189Asp)
c.3117G>T (p.Glu1039Asp)
c.1419G>T (p.Glu473Asp)
c.1236G>T (p.Glu412Asp)
c.3468G>T (p.Glu1156Asp)
c.3420G>T (p.Glu1140Asp)
c.3189G>T (p.Glu1063Asp)
c.3090G>T (p.Glu1030Asp)
c.2271G>T (p.Glu757Asp)
n.3822G>T
13g.51939147C>GCA388024325ATP7Bc.*1253G>C (n.*1253G>C)
c.*2347G>C (n.*2347G>C)
c.2982G>C (p.Glu994Asp)
c.3603G>C (p.Glu1201Asp)
c.3270G>C (p.Glu1090Asp)
c.3351G>C (p.Glu1117Asp)
n.844G>C
c.3369G>C (p.Glu1123Asp)
n.3742G>C
n.469G>C
c.2538G>C (p.Glu846Asp)
c.2313G>C (p.Glu771Asp)
c.3408G>C (p.Glu1136Asp)
c.1381G>C
c.*704G>C (n.*704G>C)
n.4347G>C
n.2948G>C
c.3459G>C (p.Glu1153Asp)
c.3507G>C (p.Glu1169Asp)
c.3567G>C (p.Glu1189Asp)
c.3117G>C (p.Glu1039Asp)
c.1419G>C (p.Glu473Asp)
c.1236G>C (p.Glu412Asp)
c.3468G>C (p.Glu1156Asp)
c.3420G>C (p.Glu1140Asp)
c.3189G>C (p.Glu1063Asp)
c.3090G>C (p.Glu1030Asp)
c.2271G>C (p.Glu757Asp)
n.3822G>C
13g.51939147C>TCA483893796ATP7Bc.*1253G>A (n.*1253G>A)
c.*2347G>A (n.*2347G>A)
c.2982G>A (p.Glu994=)
c.3603G>A (p.Glu1201=)
c.3270G>A (p.Glu1090=)
c.3351G>A (p.Glu1117=)
n.844G>A
c.3369G>A (p.Glu1123=)
n.3742G>A
n.469G>A
c.2538G>A (p.Glu846=)
c.2313G>A (p.Glu771=)
c.3408G>A (p.Glu1136=)
c.1381G>A
c.*704G>A (n.*704G>A)
n.4347G>A
n.2948G>A
c.3459G>A (p.Glu1153=)
c.3507G>A (p.Glu1169=)
c.3567G>A (p.Glu1189=)
c.3117G>A (p.Glu1039=)
c.1419G>A (p.Glu473=)
c.1236G>A (p.Glu412=)
c.3468G>A (p.Glu1156=)
c.3420G>A (p.Glu1140=)
c.3189G>A (p.Glu1063=)
c.3090G>A (p.Glu1030=)
c.2271G>A (p.Glu757=)
n.3822G>A
 ClinVar dbSNP
13g.51939148T>ACA388024328ATP7Bc.*1252A>T (n.*1252A>T)
c.*2346A>T (n.*2346A>T)
c.2981A>T (p.Glu994Val)
c.3602A>T (p.Glu1201Val)
c.3269A>T (p.Glu1090Val)
c.3350A>T (p.Glu1117Val)
n.843A>T
c.3368A>T (p.Glu1123Val)
n.3741A>T
n.468A>T
c.2537A>T (p.Glu846Val)
c.2312A>T (p.Glu771Val)
c.3407A>T (p.Glu1136Val)
c.1380A>T
c.*703A>T (n.*703A>T)
n.4346A>T
n.2947A>T
c.3458A>T (p.Glu1153Val)
c.3506A>T (p.Glu1169Val)
c.3566A>T (p.Glu1189Val)
c.3116A>T (p.Glu1039Val)
c.1418A>T (p.Glu473Val)
c.1235A>T (p.Glu412Val)
c.3467A>T (p.Glu1156Val)
c.3419A>T (p.Glu1140Val)
c.3188A>T (p.Glu1063Val)
c.3089A>T (p.Glu1030Val)
c.2270A>T (p.Glu757Val)
n.3821A>T
13g.51939148T>CCA388024332ATP7Bc.*1252A>G (n.*1252A>G)
c.*2346A>G (n.*2346A>G)
c.2981A>G (p.Glu994Gly)
c.3602A>G (p.Glu1201Gly)
c.3269A>G (p.Glu1090Gly)
c.3350A>G (p.Glu1117Gly)
n.843A>G
c.3368A>G (p.Glu1123Gly)
n.3741A>G
n.468A>G
c.2537A>G (p.Glu846Gly)
c.2312A>G (p.Glu771Gly)
c.3407A>G (p.Glu1136Gly)
c.1380A>G
c.*703A>G (n.*703A>G)
n.4346A>G
n.2947A>G
c.3458A>G (p.Glu1153Gly)
c.3506A>G (p.Glu1169Gly)
c.3566A>G (p.Glu1189Gly)
c.3116A>G (p.Glu1039Gly)
c.1418A>G (p.Glu473Gly)
c.1235A>G (p.Glu412Gly)
c.3467A>G (p.Glu1156Gly)
c.3419A>G (p.Glu1140Gly)
c.3188A>G (p.Glu1063Gly)
c.3089A>G (p.Glu1030Gly)
c.2270A>G (p.Glu757Gly)
n.3821A>G
13g.51939148T>GCA388024331ATP7Bc.*1252A>C (n.*1252A>C)
c.*2346A>C (n.*2346A>C)
c.2981A>C (p.Glu994Ala)
c.3602A>C (p.Glu1201Ala)
c.3269A>C (p.Glu1090Ala)
c.3350A>C (p.Glu1117Ala)
n.843A>C
c.3368A>C (p.Glu1123Ala)
n.3741A>C
n.468A>C
c.2537A>C (p.Glu846Ala)
c.2312A>C (p.Glu771Ala)
c.3407A>C (p.Glu1136Ala)
c.1380A>C
c.*703A>C (n.*703A>C)
n.4346A>C
n.2947A>C
c.3458A>C (p.Glu1153Ala)
c.3506A>C (p.Glu1169Ala)
c.3566A>C (p.Glu1189Ala)
c.3116A>C (p.Glu1039Ala)
c.1418A>C (p.Glu473Ala)
c.1235A>C (p.Glu412Ala)
c.3467A>C (p.Glu1156Ala)
c.3419A>C (p.Glu1140Ala)
c.3188A>C (p.Glu1063Ala)
c.3089A>C (p.Glu1030Ala)
c.2270A>C (p.Glu757Ala)
n.3821A>C
13g.51939149C>ACA388024335ATP7Bc.*1251G>T (n.*1251G>T)
c.*2345G>T (n.*2345G>T)
c.2980G>T (p.Glu994Ter)
c.3601G>T (p.Glu1201Ter)
c.3268G>T (p.Glu1090Ter)
c.3349G>T (p.Glu1117Ter)
n.842G>T
c.3367G>T (p.Glu1123Ter)
n.3740G>T
n.467G>T
c.2536G>T (p.Glu846Ter)
c.2311G>T (p.Glu771Ter)
c.3406G>T (p.Glu1136Ter)
c.1379G>T
c.*702G>T (n.*702G>T)
n.4345G>T
n.2946G>T
c.3457G>T (p.Glu1153Ter)
c.3505G>T (p.Glu1169Ter)
c.3565G>T (p.Glu1189Ter)
c.3115G>T (p.Glu1039Ter)
c.1417G>T (p.Glu473Ter)
c.1234G>T (p.Glu412Ter)
c.3466G>T (p.Glu1156Ter)
c.3418G>T (p.Glu1140Ter)
c.3187G>T (p.Glu1063Ter)
c.3088G>T (p.Glu1030Ter)
c.2269G>T (p.Glu757Ter)
n.3820G>T
 gnomAD v4
13g.51939149C>GCA388024345ATP7Bc.*1251G>C (n.*1251G>C)
c.*2345G>C (n.*2345G>C)
c.2980G>C (p.Glu994Gln)
c.3601G>C (p.Glu1201Gln)
c.3268G>C (p.Glu1090Gln)
c.3349G>C (p.Glu1117Gln)
n.842G>C
c.3367G>C (p.Glu1123Gln)
n.3740G>C
n.467G>C
c.2536G>C (p.Glu846Gln)
c.2311G>C (p.Glu771Gln)
c.3406G>C (p.Glu1136Gln)
c.1379G>C
c.*702G>C (n.*702G>C)
n.4345G>C
n.2946G>C
c.3457G>C (p.Glu1153Gln)
c.3505G>C (p.Glu1169Gln)
c.3565G>C (p.Glu1189Gln)
c.3115G>C (p.Glu1039Gln)
c.1417G>C (p.Glu473Gln)
c.1234G>C (p.Glu412Gln)
c.3466G>C (p.Glu1156Gln)
c.3418G>C (p.Glu1140Gln)
c.3187G>C (p.Glu1063Gln)
c.3088G>C (p.Glu1030Gln)
c.2269G>C (p.Glu757Gln)
n.3820G>C
13g.51939149C>TCA388024346ATP7Bc.*1251G>A (n.*1251G>A)
c.*2345G>A (n.*2345G>A)
c.2980G>A (p.Glu994Lys)
c.3601G>A (p.Glu1201Lys)
c.3268G>A (p.Glu1090Lys)
c.3349G>A (p.Glu1117Lys)
n.842G>A
c.3367G>A (p.Glu1123Lys)
n.3740G>A
n.467G>A
c.2536G>A (p.Glu846Lys)
c.2311G>A (p.Glu771Lys)
c.3406G>A (p.Glu1136Lys)
c.1379G>A
c.*702G>A (n.*702G>A)
n.4345G>A
n.2946G>A
c.3457G>A (p.Glu1153Lys)
c.3505G>A (p.Glu1169Lys)
c.3565G>A (p.Glu1189Lys)
c.3115G>A (p.Glu1039Lys)
c.1417G>A (p.Glu473Lys)
c.1234G>A (p.Glu412Lys)
c.3466G>A (p.Glu1156Lys)
c.3418G>A (p.Glu1140Lys)
c.3187G>A (p.Glu1063Lys)
c.3088G>A (p.Glu1030Lys)
c.2269G>A (p.Glu757Lys)
n.3820G>A
 gnomAD v4
13g.51939150C>ACA388024347ATP7Bc.*1250G>T (n.*1250G>T)
c.*2344G>T (n.*2344G>T)
c.2979G>T (p.Gln993His)
c.3600G>T (p.Gln1200His)
c.3267G>T (p.Gln1089His)
c.3348G>T (p.Gln1116His)
n.841G>T
c.3366G>T (p.Gln1122His)
n.3739G>T
n.466G>T
c.2535G>T (p.Gln845His)
c.2310G>T (p.Gln770His)
c.3405G>T (p.Gln1135His)
c.1378G>T
c.*701G>T (n.*701G>T)
n.4344G>T
n.2945G>T
c.3456G>T (p.Gln1152His)
c.3504G>T (p.Gln1168His)
c.3564G>T (p.Gln1188His)
c.3114G>T (p.Gln1038His)
c.1416G>T (p.Gln472His)
c.1233G>T (p.Gln411His)
c.3465G>T (p.Gln1155His)
c.3417G>T (p.Gln1139His)
c.3186G>T (p.Gln1062His)
c.3087G>T (p.Gln1029His)
c.2268G>T (p.Gln756His)
n.3819G>T
13g.51939150C=CA2091556877ATP7Bc.*1250G= (n.*1250G=)
c.*2344G= (n.*2344G=)
c.2979G= (p.Gln993=)
c.3600G= (p.Gln1200=)
c.3267G= (p.Gln1089=)
c.3348G= (p.Gln1116=)
n.841G=
c.3366G= (p.Gln1122=)
n.3739G=
n.466G=
c.2535G= (p.Gln845=)
c.2310G= (p.Gln770=)
c.3405G= (p.Gln1135=)
c.1378G=
c.*701G= (n.*701G=)
n.4344G=
n.2945G=
c.3456G= (p.Gln1152=)
c.3504G= (p.Gln1168=)
c.3564G= (p.Gln1188=)
c.3114G= (p.Gln1038=)
c.1416G= (p.Gln472=)
c.1233G= (p.Gln411=)
c.3465G= (p.Gln1155=)
c.3417G= (p.Gln1139=)
c.3186G= (p.Gln1062=)
c.3087G= (p.Gln1029=)
c.2268G= (p.Gln756=)
n.3819G=
13g.51939150C>GCA388024348ATP7Bc.*1250G>C (n.*1250G>C)
c.*2344G>C (n.*2344G>C)
c.2979G>C (p.Gln993His)
c.3600G>C (p.Gln1200His)
c.3267G>C (p.Gln1089His)
c.3348G>C (p.Gln1116His)
n.841G>C
c.3366G>C (p.Gln1122His)
n.3739G>C
n.466G>C
c.2535G>C (p.Gln845His)
c.2310G>C (p.Gln770His)
c.3405G>C (p.Gln1135His)
c.1378G>C
c.*701G>C (n.*701G>C)
n.4344G>C
n.2945G>C
c.3456G>C (p.Gln1152His)
c.3504G>C (p.Gln1168His)
c.3564G>C (p.Gln1188His)
c.3114G>C (p.Gln1038His)
c.1416G>C (p.Gln472His)
c.1233G>C (p.Gln411His)
c.3465G>C (p.Gln1155His)
c.3417G>C (p.Gln1139His)
c.3186G>C (p.Gln1062His)
c.3087G>C (p.Gln1029His)
c.2268G>C (p.Gln756His)
n.3819G>C
13g.51939150C>TCA483893798ATP7Bc.*1250G>A (n.*1250G>A)
c.*2344G>A (n.*2344G>A)
c.2979G>A (p.Gln993=)
c.3600G>A (p.Gln1200=)
c.3267G>A (p.Gln1089=)
c.3348G>A (p.Gln1116=)
n.841G>A
c.3366G>A (p.Gln1122=)
n.3739G>A
n.466G>A
c.2535G>A (p.Gln845=)
c.2310G>A (p.Gln770=)
c.3405G>A (p.Gln1135=)
c.1378G>A
c.*701G>A (n.*701G>A)
n.4344G>A
n.2945G>A
c.3456G>A (p.Gln1152=)
c.3504G>A (p.Gln1168=)
c.3564G>A (p.Gln1188=)
c.3114G>A (p.Gln1038=)
c.1416G>A (p.Gln472=)
c.1233G>A (p.Gln411=)
c.3465G>A (p.Gln1155=)
c.3417G>A (p.Gln1139=)
c.3186G>A (p.Gln1062=)
c.3087G>A (p.Gln1029=)
c.2268G>A (p.Gln756=)
n.3819G>A
 dbSNP
13g.51939151T>ACA388024354ATP7Bc.*1249A>T (n.*1249A>T)
c.*2343A>T (n.*2343A>T)
c.2978A>T (p.Gln993Leu)
c.3599A>T (p.Gln1200Leu)
c.3266A>T (p.Gln1089Leu)
c.3347A>T (p.Gln1116Leu)
n.840A>T
c.3365A>T (p.Gln1122Leu)
n.3738A>T
n.465A>T
c.2534A>T (p.Gln845Leu)
c.2309A>T (p.Gln770Leu)
c.3404A>T (p.Gln1135Leu)
c.1377A>T
c.*700A>T (n.*700A>T)
n.4343A>T
n.2944A>T
c.3455A>T (p.Gln1152Leu)
c.3503A>T (p.Gln1168Leu)
c.3563A>T (p.Gln1188Leu)
c.3113A>T (p.Gln1038Leu)
c.1415A>T (p.Gln472Leu)
c.1232A>T (p.Gln411Leu)
c.3464A>T (p.Gln1155Leu)
c.3416A>T (p.Gln1139Leu)
c.3185A>T (p.Gln1062Leu)
c.3086A>T (p.Gln1029Leu)
c.2267A>T (p.Gln756Leu)
n.3818A>T
13g.51939151T>CCA388024357ATP7Bc.*1249A>G (n.*1249A>G)
c.*2343A>G (n.*2343A>G)
c.2978A>G (p.Gln993Arg)
c.3599A>G (p.Gln1200Arg)
c.3266A>G (p.Gln1089Arg)
c.3347A>G (p.Gln1116Arg)
n.840A>G
c.3365A>G (p.Gln1122Arg)
n.3738A>G
n.465A>G
c.2534A>G (p.Gln845Arg)
c.2309A>G (p.Gln770Arg)
c.3404A>G (p.Gln1135Arg)
c.1377A>G
c.*700A>G (n.*700A>G)
n.4343A>G
n.2944A>G
c.3455A>G (p.Gln1152Arg)
c.3503A>G (p.Gln1168Arg)
c.3563A>G (p.Gln1188Arg)
c.3113A>G (p.Gln1038Arg)
c.1415A>G (p.Gln472Arg)
c.1232A>G (p.Gln411Arg)
c.3464A>G (p.Gln1155Arg)
c.3416A>G (p.Gln1139Arg)
c.3185A>G (p.Gln1062Arg)
c.3086A>G (p.Gln1029Arg)
c.2267A>G (p.Gln756Arg)
n.3818A>G
13g.51939151T>GCA6988626ATP7Bc.*1249A>C (n.*1249A>C)
c.*2343A>C (n.*2343A>C)
c.2978A>C (p.Gln993Pro)
c.3599A>C (p.Gln1200Pro)
c.3266A>C (p.Gln1089Pro)
c.3347A>C (p.Gln1116Pro)
n.840A>C
c.3365A>C (p.Gln1122Pro)
n.3738A>C
n.465A>C
c.2534A>C (p.Gln845Pro)
c.2309A>C (p.Gln770Pro)
c.3404A>C (p.Gln1135Pro)
c.1377A>C
c.*700A>C (n.*700A>C)
n.4343A>C
n.2944A>C
c.3455A>C (p.Gln1152Pro)
c.3503A>C (p.Gln1168Pro)
c.3563A>C (p.Gln1188Pro)
c.3113A>C (p.Gln1038Pro)
c.1415A>C (p.Gln472Pro)
c.1232A>C (p.Gln411Pro)
c.3464A>C (p.Gln1155Pro)
c.3416A>C (p.Gln1139Pro)
c.3185A>C (p.Gln1062Pro)
c.3086A>C (p.Gln1029Pro)
c.2267A>C (p.Gln756Pro)
n.3818A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939151T=CA2091556880ATP7Bc.*1249A= (n.*1249A=)
c.*2343A= (n.*2343A=)
c.2978A= (p.Gln993=)
c.3599A= (p.Gln1200=)
c.3266A= (p.Gln1089=)
c.3347A= (p.Gln1116=)
n.840A=
c.3365A= (p.Gln1122=)
n.3738A=
n.465A=
c.2534A= (p.Gln845=)
c.2309A= (p.Gln770=)
c.3404A= (p.Gln1135=)
c.1377A=
c.*700A= (n.*700A=)
n.4343A=
n.2944A=
c.3455A= (p.Gln1152=)
c.3503A= (p.Gln1168=)
c.3563A= (p.Gln1188=)
c.3113A= (p.Gln1038=)
c.1415A= (p.Gln472=)
c.1232A= (p.Gln411=)
c.3464A= (p.Gln1155=)
c.3416A= (p.Gln1139=)
c.3185A= (p.Gln1062=)
c.3086A= (p.Gln1029=)
c.2267A= (p.Gln756=)
n.3818A=
13g.51939152G>ACA274326ATP7Bc.*1248C>T (n.*1248C>T)
c.*2342C>T (n.*2342C>T)
c.2977C>T (p.Gln993Ter)
c.3598C>T (p.Gln1200Ter)
c.3265C>T (p.Gln1089Ter)
c.3346C>T (p.Gln1116Ter)
n.839C>T
c.3364C>T (p.Gln1122Ter)
n.3737C>T
n.464C>T
c.2533C>T (p.Gln845Ter)
c.2308C>T (p.Gln770Ter)
c.3403C>T (p.Gln1135Ter)
c.1376C>T
c.*699C>T (n.*699C>T)
n.4342C>T
n.2943C>T
c.3454C>T (p.Gln1152Ter)
c.3502C>T (p.Gln1168Ter)
c.3562C>T (p.Gln1188Ter)
c.3112C>T (p.Gln1038Ter)
c.1414C>T (p.Gln472Ter)
c.1231C>T (p.Gln411Ter)
c.3463C>T (p.Gln1155Ter)
c.3415C>T (p.Gln1139Ter)
c.3184C>T (p.Gln1062Ter)
c.3085C>T (p.Gln1029Ter)
c.2266C>T (p.Gln756Ter)
n.3817C>T
 ClinVar dbSNP
13g.51939152G>CCA388024365ATP7Bc.*1248C>G (n.*1248C>G)
c.*2342C>G (n.*2342C>G)
c.2977C>G (p.Gln993Glu)
c.3598C>G (p.Gln1200Glu)
c.3265C>G (p.Gln1089Glu)
c.3346C>G (p.Gln1116Glu)
n.839C>G
c.3364C>G (p.Gln1122Glu)
n.3737C>G
n.464C>G
c.2533C>G (p.Gln845Glu)
c.2308C>G (p.Gln770Glu)
c.3403C>G (p.Gln1135Glu)
c.1376C>G
c.*699C>G (n.*699C>G)
n.4342C>G
n.2943C>G
c.3454C>G (p.Gln1152Glu)
c.3502C>G (p.Gln1168Glu)
c.3562C>G (p.Gln1188Glu)
c.3112C>G (p.Gln1038Glu)
c.1414C>G (p.Gln472Glu)
c.1231C>G (p.Gln411Glu)
c.3463C>G (p.Gln1155Glu)
c.3415C>G (p.Gln1139Glu)
c.3184C>G (p.Gln1062Glu)
c.3085C>G (p.Gln1029Glu)
c.2266C>G (p.Gln756Glu)
n.3817C>G
13g.51939152G=CA2091556883ATP7Bc.*1248C= (n.*1248C=)
c.*2342C= (n.*2342C=)
c.2977C= (p.Gln993=)
c.3598C= (p.Gln1200=)
c.3265C= (p.Gln1089=)
c.3346C= (p.Gln1116=)
n.839C=
c.3364C= (p.Gln1122=)
n.3737C=
n.464C=
c.2533C= (p.Gln845=)
c.2308C= (p.Gln770=)
c.3403C= (p.Gln1135=)
c.1376C=
c.*699C= (n.*699C=)
n.4342C=
n.2943C=
c.3454C= (p.Gln1152=)
c.3502C= (p.Gln1168=)
c.3562C= (p.Gln1188=)
c.3112C= (p.Gln1038=)
c.1414C= (p.Gln472=)
c.1231C= (p.Gln411=)
c.3463C= (p.Gln1155=)
c.3415C= (p.Gln1139=)
c.3184C= (p.Gln1062=)
c.3085C= (p.Gln1029=)
c.2266C= (p.Gln756=)
n.3817C=
13g.51939152G>TCA388024366ATP7Bc.*1248C>A (n.*1248C>A)
c.*2342C>A (n.*2342C>A)
c.2977C>A (p.Gln993Lys)
c.3598C>A (p.Gln1200Lys)
c.3265C>A (p.Gln1089Lys)
c.3346C>A (p.Gln1116Lys)
n.839C>A
c.3364C>A (p.Gln1122Lys)
n.3737C>A
n.464C>A
c.2533C>A (p.Gln845Lys)
c.2308C>A (p.Gln770Lys)
c.3403C>A (p.Gln1135Lys)
c.1376C>A
c.*699C>A (n.*699C>A)
n.4342C>A
n.2943C>A
c.3454C>A (p.Gln1152Lys)
c.3502C>A (p.Gln1168Lys)
c.3562C>A (p.Gln1188Lys)
c.3112C>A (p.Gln1038Lys)
c.1414C>A (p.Gln472Lys)
c.1231C>A (p.Gln411Lys)
c.3463C>A (p.Gln1155Lys)
c.3415C>A (p.Gln1139Lys)
c.3184C>A (p.Gln1062Lys)
c.3085C>A (p.Gln1029Lys)
c.2266C>A (p.Gln756Lys)
n.3817C>A
13g.51939153C>ACA388024367ATP7Bc.*1247G>T (n.*1247G>T)
c.*2341G>T (n.*2341G>T)
c.2976G>T (p.Lys992Asn)
c.3597G>T (p.Lys1199Asn)
c.3264G>T (p.Lys1088Asn)
c.3345G>T (p.Lys1115Asn)
n.838G>T
c.3363G>T (p.Lys1121Asn)
n.3736G>T
n.463G>T
c.2532G>T (p.Lys844Asn)
c.2307G>T (p.Lys769Asn)
c.3402G>T (p.Lys1134Asn)
c.1375G>T
c.*698G>T (n.*698G>T)
n.4341G>T
n.2942G>T
c.3453G>T (p.Lys1151Asn)
c.3501G>T (p.Lys1167Asn)
c.3561G>T (p.Lys1187Asn)
c.3111G>T (p.Lys1037Asn)
c.1413G>T (p.Lys471Asn)
c.1230G>T (p.Lys410Asn)
c.3462G>T (p.Lys1154Asn)
c.3414G>T (p.Lys1138Asn)
c.3183G>T (p.Lys1061Asn)
c.3084G>T (p.Lys1028Asn)
c.2265G>T (p.Lys755Asn)
n.3816G>T
13g.51939153C>GCA388024368ATP7Bc.*1247G>C (n.*1247G>C)
c.*2341G>C (n.*2341G>C)
c.2976G>C (p.Lys992Asn)
c.3597G>C (p.Lys1199Asn)
c.3264G>C (p.Lys1088Asn)
c.3345G>C (p.Lys1115Asn)
n.838G>C
c.3363G>C (p.Lys1121Asn)
n.3736G>C
n.463G>C
c.2532G>C (p.Lys844Asn)
c.2307G>C (p.Lys769Asn)
c.3402G>C (p.Lys1134Asn)
c.1375G>C
c.*698G>C (n.*698G>C)
n.4341G>C
n.2942G>C
c.3453G>C (p.Lys1151Asn)
c.3501G>C (p.Lys1167Asn)
c.3561G>C (p.Lys1187Asn)
c.3111G>C (p.Lys1037Asn)
c.1413G>C (p.Lys471Asn)
c.1230G>C (p.Lys410Asn)
c.3462G>C (p.Lys1154Asn)
c.3414G>C (p.Lys1138Asn)
c.3183G>C (p.Lys1061Asn)
c.3084G>C (p.Lys1028Asn)
c.2265G>C (p.Lys755Asn)
n.3816G>C
13g.51939153C>TCA483893802ATP7Bc.*1247G>A (n.*1247G>A)
c.*2341G>A (n.*2341G>A)
c.2976G>A (p.Lys992=)
c.3597G>A (p.Lys1199=)
c.3264G>A (p.Lys1088=)
c.3345G>A (p.Lys1115=)
n.838G>A
c.3363G>A (p.Lys1121=)
n.3736G>A
n.463G>A
c.2532G>A (p.Lys844=)
c.2307G>A (p.Lys769=)
c.3402G>A (p.Lys1134=)
c.1375G>A
c.*698G>A (n.*698G>A)
n.4341G>A
n.2942G>A
c.3453G>A (p.Lys1151=)
c.3501G>A (p.Lys1167=)
c.3561G>A (p.Lys1187=)
c.3111G>A (p.Lys1037=)
c.1413G>A (p.Lys471=)
c.1230G>A (p.Lys410=)
c.3462G>A (p.Lys1154=)
c.3414G>A (p.Lys1138=)
c.3183G>A (p.Lys1061=)
c.3084G>A (p.Lys1028=)
c.2265G>A (p.Lys755=)
n.3816G>A
13g.51939154T>ACA388024378ATP7Bc.*1246A>T (n.*1246A>T)
c.*2340A>T (n.*2340A>T)
c.2975A>T (p.Lys992Met)
c.3596A>T (p.Lys1199Met)
c.3263A>T (p.Lys1088Met)
c.3344A>T (p.Lys1115Met)
n.837A>T
c.3362A>T (p.Lys1121Met)
n.3735A>T
n.462A>T
c.2531A>T (p.Lys844Met)
c.2306A>T (p.Lys769Met)
c.3401A>T (p.Lys1134Met)
c.1374A>T
c.*697A>T (n.*697A>T)
n.4340A>T
n.2941A>T
c.3452A>T (p.Lys1151Met)
c.3500A>T (p.Lys1167Met)
c.3560A>T (p.Lys1187Met)
c.3110A>T (p.Lys1037Met)
c.1412A>T (p.Lys471Met)
c.1229A>T (p.Lys410Met)
c.3461A>T (p.Lys1154Met)
c.3413A>T (p.Lys1138Met)
c.3182A>T (p.Lys1061Met)
c.3083A>T (p.Lys1028Met)
c.2264A>T (p.Lys755Met)
n.3815A>T
13g.51939154T>CCA388024371ATP7Bc.*1246A>G (n.*1246A>G)
c.*2340A>G (n.*2340A>G)
c.2975A>G (p.Lys992Arg)
c.3596A>G (p.Lys1199Arg)
c.3263A>G (p.Lys1088Arg)
c.3344A>G (p.Lys1115Arg)
n.837A>G
c.3362A>G (p.Lys1121Arg)
n.3735A>G
n.462A>G
c.2531A>G (p.Lys844Arg)
c.2306A>G (p.Lys769Arg)
c.3401A>G (p.Lys1134Arg)
c.1374A>G
c.*697A>G (n.*697A>G)
n.4340A>G
n.2941A>G
c.3452A>G (p.Lys1151Arg)
c.3500A>G (p.Lys1167Arg)
c.3560A>G (p.Lys1187Arg)
c.3110A>G (p.Lys1037Arg)
c.1412A>G (p.Lys471Arg)
c.1229A>G (p.Lys410Arg)
c.3461A>G (p.Lys1154Arg)
c.3413A>G (p.Lys1138Arg)
c.3182A>G (p.Lys1061Arg)
c.3083A>G (p.Lys1028Arg)
c.2264A>G (p.Lys755Arg)
n.3815A>G
 gnomAD v4
13g.51939154T>GCA388024373ATP7Bc.*1246A>C (n.*1246A>C)
c.*2340A>C (n.*2340A>C)
c.2975A>C (p.Lys992Thr)
c.3596A>C (p.Lys1199Thr)
c.3263A>C (p.Lys1088Thr)
c.3344A>C (p.Lys1115Thr)
n.837A>C
c.3362A>C (p.Lys1121Thr)
n.3735A>C
n.462A>C
c.2531A>C (p.Lys844Thr)
c.2306A>C (p.Lys769Thr)
c.3401A>C (p.Lys1134Thr)
c.1374A>C
c.*697A>C (n.*697A>C)
n.4340A>C
n.2941A>C
c.3452A>C (p.Lys1151Thr)
c.3500A>C (p.Lys1167Thr)
c.3560A>C (p.Lys1187Thr)
c.3110A>C (p.Lys1037Thr)
c.1412A>C (p.Lys471Thr)
c.1229A>C (p.Lys410Thr)
c.3461A>C (p.Lys1154Thr)
c.3413A>C (p.Lys1138Thr)
c.3182A>C (p.Lys1061Thr)
c.3083A>C (p.Lys1028Thr)
c.2264A>C (p.Lys755Thr)
n.3815A>C
13g.51939155T>ACA388024383ATP7Bc.*1245A>T (n.*1245A>T)
c.*2339A>T (n.*2339A>T)
c.2974A>T (p.Lys992Ter)
c.3595A>T (p.Lys1199Ter)
c.3262A>T (p.Lys1088Ter)
c.3343A>T (p.Lys1115Ter)
n.836A>T
c.3361A>T (p.Lys1121Ter)
n.3734A>T
n.461A>T
c.2530A>T (p.Lys844Ter)
c.2305A>T (p.Lys769Ter)
c.3400A>T (p.Lys1134Ter)
c.1373A>T
c.*696A>T (n.*696A>T)
n.4339A>T
n.2940A>T
c.3451A>T (p.Lys1151Ter)
c.3499A>T (p.Lys1167Ter)
c.3559A>T (p.Lys1187Ter)
c.3109A>T (p.Lys1037Ter)
c.1411A>T (p.Lys471Ter)
c.1228A>T (p.Lys410Ter)
c.3460A>T (p.Lys1154Ter)
c.3412A>T (p.Lys1138Ter)
c.3181A>T (p.Lys1061Ter)
c.3082A>T (p.Lys1028Ter)
c.2263A>T (p.Lys755Ter)
n.3814A>T
13g.51939155T>CCA388024387ATP7Bc.*1245A>G (n.*1245A>G)
c.*2339A>G (n.*2339A>G)
c.2974A>G (p.Lys992Glu)
c.3595A>G (p.Lys1199Glu)
c.3262A>G (p.Lys1088Glu)
c.3343A>G (p.Lys1115Glu)
n.836A>G
c.3361A>G (p.Lys1121Glu)
n.3734A>G
n.461A>G
c.2530A>G (p.Lys844Glu)
c.2305A>G (p.Lys769Glu)
c.3400A>G (p.Lys1134Glu)
c.1373A>G
c.*696A>G (n.*696A>G)
n.4339A>G
n.2940A>G
c.3451A>G (p.Lys1151Glu)
c.3499A>G (p.Lys1167Glu)
c.3559A>G (p.Lys1187Glu)
c.3109A>G (p.Lys1037Glu)
c.1411A>G (p.Lys471Glu)
c.1228A>G (p.Lys410Glu)
c.3460A>G (p.Lys1154Glu)
c.3412A>G (p.Lys1138Glu)
c.3181A>G (p.Lys1061Glu)
c.3082A>G (p.Lys1028Glu)
c.2263A>G (p.Lys755Glu)
n.3814A>G
13g.51939155T>GCA388024393ATP7Bc.*1245A>C (n.*1245A>C)
c.*2339A>C (n.*2339A>C)
c.2974A>C (p.Lys992Gln)
c.3595A>C (p.Lys1199Gln)
c.3262A>C (p.Lys1088Gln)
c.3343A>C (p.Lys1115Gln)
n.836A>C
c.3361A>C (p.Lys1121Gln)
n.3734A>C
n.461A>C
c.2530A>C (p.Lys844Gln)
c.2305A>C (p.Lys769Gln)
c.3400A>C (p.Lys1134Gln)
c.1373A>C
c.*696A>C (n.*696A>C)
n.4339A>C
n.2940A>C
c.3451A>C (p.Lys1151Gln)
c.3499A>C (p.Lys1167Gln)
c.3559A>C (p.Lys1187Gln)
c.3109A>C (p.Lys1037Gln)
c.1411A>C (p.Lys471Gln)
c.1228A>C (p.Lys410Gln)
c.3460A>C (p.Lys1154Gln)
c.3412A>C (p.Lys1138Gln)
c.3181A>C (p.Lys1061Gln)
c.3082A>C (p.Lys1028Gln)
c.2263A>C (p.Lys755Gln)
n.3814A>C
13g.51939156G>ACA483893806ATP7Bc.*1244C>T (n.*1244C>T)
c.*2338C>T (n.*2338C>T)
c.2973C>T (p.Val991=)
c.3594C>T (p.Val1198=)
c.3261C>T (p.Val1087=)
c.3342C>T (p.Val1114=)
n.835C>T
c.3360C>T (p.Val1120=)
n.3733C>T
n.460C>T
c.2529C>T (p.Val843=)
c.2304C>T (p.Val768=)
c.3399C>T (p.Val1133=)
c.1372C>T
c.*695C>T (n.*695C>T)
n.4338C>T
n.2939C>T
c.3450C>T (p.Val1150=)
c.3498C>T (p.Val1166=)
c.3558C>T (p.Val1186=)
c.3108C>T (p.Val1036=)
c.1410C>T (p.Val470=)
c.1227C>T (p.Val409=)
c.3459C>T (p.Val1153=)
c.3411C>T (p.Val1137=)
c.3180C>T (p.Val1060=)
c.3081C>T (p.Val1027=)
c.2262C>T (p.Val754=)
n.3813C>T
13g.51939156G>CCA483893804ATP7Bc.*1244C>G (n.*1244C>G)
c.*2338C>G (n.*2338C>G)
c.2973C>G (p.Val991=)
c.3594C>G (p.Val1198=)
c.3261C>G (p.Val1087=)
c.3342C>G (p.Val1114=)
n.835C>G
c.3360C>G (p.Val1120=)
n.3733C>G
n.460C>G
c.2529C>G (p.Val843=)
c.2304C>G (p.Val768=)
c.3399C>G (p.Val1133=)
c.1372C>G
c.*695C>G (n.*695C>G)
n.4338C>G
n.2939C>G
c.3450C>G (p.Val1150=)
c.3498C>G (p.Val1166=)
c.3558C>G (p.Val1186=)
c.3108C>G (p.Val1036=)
c.1410C>G (p.Val470=)
c.1227C>G (p.Val409=)
c.3459C>G (p.Val1153=)
c.3411C>G (p.Val1137=)
c.3180C>G (p.Val1060=)
c.3081C>G (p.Val1027=)
c.2262C>G (p.Val754=)
n.3813C>G
 ClinVar
13g.51939156G>TCA483893805ATP7Bc.*1244C>A (n.*1244C>A)
c.*2338C>A (n.*2338C>A)
c.2973C>A (p.Val991=)
c.3594C>A (p.Val1198=)
c.3261C>A (p.Val1087=)
c.3342C>A (p.Val1114=)
n.835C>A
c.3360C>A (p.Val1120=)
n.3733C>A
n.460C>A
c.2529C>A (p.Val843=)
c.2304C>A (p.Val768=)
c.3399C>A (p.Val1133=)
c.1372C>A
c.*695C>A (n.*695C>A)
n.4338C>A
n.2939C>A
c.3450C>A (p.Val1150=)
c.3498C>A (p.Val1166=)
c.3558C>A (p.Val1186=)
c.3108C>A (p.Val1036=)
c.1410C>A (p.Val470=)
c.1227C>A (p.Val409=)
c.3459C>A (p.Val1153=)
c.3411C>A (p.Val1137=)
c.3180C>A (p.Val1060=)
c.3081C>A (p.Val1027=)
c.2262C>A (p.Val754=)
n.3813C>A
13g.51939157A=CA2091556888ATP7Bc.*1243T= (n.*1243T=)
c.*2337T= (n.*2337T=)
c.2972T= (p.Val991=)
c.3593T= (p.Val1198=)
c.3260T= (p.Val1087=)
c.3341T= (p.Val1114=)
n.834T=
c.3359T= (p.Val1120=)
n.3732T=
n.459T=
c.2528T= (p.Val843=)
c.2303T= (p.Val768=)
c.3398T= (p.Val1133=)
c.1371T=
c.*694T= (n.*694T=)
n.4337T=
n.2938T=
c.3449T= (p.Val1150=)
c.3497T= (p.Val1166=)
c.3557T= (p.Val1186=)
c.3107T= (p.Val1036=)
c.1409T= (p.Val470=)
c.1226T= (p.Val409=)
c.3458T= (p.Val1153=)
c.3410T= (p.Val1137=)
c.3179T= (p.Val1060=)
c.3080T= (p.Val1027=)
c.2261T= (p.Val754=)
n.3812T=
13g.51939157A>CCA388024399ATP7Bc.*1243T>G (n.*1243T>G)
c.*2337T>G (n.*2337T>G)
c.2972T>G (p.Val991Gly)
c.3593T>G (p.Val1198Gly)
c.3260T>G (p.Val1087Gly)
c.3341T>G (p.Val1114Gly)
n.834T>G
c.3359T>G (p.Val1120Gly)
n.3732T>G
n.459T>G
c.2528T>G (p.Val843Gly)
c.2303T>G (p.Val768Gly)
c.3398T>G (p.Val1133Gly)
c.1371T>G
c.*694T>G (n.*694T>G)
n.4337T>G
n.2938T>G
c.3449T>G (p.Val1150Gly)
c.3497T>G (p.Val1166Gly)
c.3557T>G (p.Val1186Gly)
c.3107T>G (p.Val1036Gly)
c.1409T>G (p.Val470Gly)
c.1226T>G (p.Val409Gly)
c.3458T>G (p.Val1153Gly)
c.3410T>G (p.Val1137Gly)
c.3179T>G (p.Val1060Gly)
c.3080T>G (p.Val1027Gly)
c.2261T>G (p.Val754Gly)
n.3812T>G
 dbSNP
13g.51939157A>GCA388024402ATP7Bc.*1243T>C (n.*1243T>C)
c.*2337T>C (n.*2337T>C)
c.2972T>C (p.Val991Ala)
c.3593T>C (p.Val1198Ala)
c.3260T>C (p.Val1087Ala)
c.3341T>C (p.Val1114Ala)
n.834T>C
c.3359T>C (p.Val1120Ala)
n.3732T>C
n.459T>C
c.2528T>C (p.Val843Ala)
c.2303T>C (p.Val768Ala)
c.3398T>C (p.Val1133Ala)
c.1371T>C
c.*694T>C (n.*694T>C)
n.4337T>C
n.2938T>C
c.3449T>C (p.Val1150Ala)
c.3497T>C (p.Val1166Ala)
c.3557T>C (p.Val1186Ala)
c.3107T>C (p.Val1036Ala)
c.1409T>C (p.Val470Ala)
c.1226T>C (p.Val409Ala)
c.3458T>C (p.Val1153Ala)
c.3410T>C (p.Val1137Ala)
c.3179T>C (p.Val1060Ala)
c.3080T>C (p.Val1027Ala)
c.2261T>C (p.Val754Ala)
n.3812T>C
13g.51939157A>TCA388024408ATP7Bc.*1243T>A (n.*1243T>A)
c.*2337T>A (n.*2337T>A)
c.2972T>A (p.Val991Asp)
c.3593T>A (p.Val1198Asp)
c.3260T>A (p.Val1087Asp)
c.3341T>A (p.Val1114Asp)
n.834T>A
c.3359T>A (p.Val1120Asp)
n.3732T>A
n.459T>A
c.2528T>A (p.Val843Asp)
c.2303T>A (p.Val768Asp)
c.3398T>A (p.Val1133Asp)
c.1371T>A
c.*694T>A (n.*694T>A)
n.4337T>A
n.2938T>A
c.3449T>A (p.Val1150Asp)
c.3497T>A (p.Val1166Asp)
c.3557T>A (p.Val1186Asp)
c.3107T>A (p.Val1036Asp)
c.1409T>A (p.Val470Asp)
c.1226T>A (p.Val409Asp)
c.3458T>A (p.Val1153Asp)
c.3410T>A (p.Val1137Asp)
c.3179T>A (p.Val1060Asp)
c.3080T>A (p.Val1027Asp)
c.2261T>A (p.Val754Asp)
n.3812T>A
13g.51939158C>ACA388024417ATP7Bc.*1242G>T (n.*1242G>T)
c.*2336G>T (n.*2336G>T)
c.2971G>T (p.Val991Phe)
c.3592G>T (p.Val1198Phe)
c.3259G>T (p.Val1087Phe)
c.3340G>T (p.Val1114Phe)
n.833G>T
c.3358G>T (p.Val1120Phe)
n.3731G>T
n.458G>T
c.2527G>T (p.Val843Phe)
c.2302G>T (p.Val768Phe)
c.3397G>T (p.Val1133Phe)
c.1370G>T
c.*693G>T (n.*693G>T)
n.4336G>T
n.2937G>T
c.3448G>T (p.Val1150Phe)
c.3496G>T (p.Val1166Phe)
c.3556G>T (p.Val1186Phe)
c.3106G>T (p.Val1036Phe)
c.1408G>T (p.Val470Phe)
c.1225G>T (p.Val409Phe)
c.3457G>T (p.Val1153Phe)
c.3409G>T (p.Val1137Phe)
c.3178G>T (p.Val1060Phe)
c.3079G>T (p.Val1027Phe)
c.2260G>T (p.Val754Phe)
n.3811G>T
13g.51939158C>GCA388024420ATP7Bc.*1242G>C (n.*1242G>C)
c.*2336G>C (n.*2336G>C)
c.2971G>C (p.Val991Leu)
c.3592G>C (p.Val1198Leu)
c.3259G>C (p.Val1087Leu)
c.3340G>C (p.Val1114Leu)
n.833G>C
c.3358G>C (p.Val1120Leu)
n.3731G>C
n.458G>C
c.2527G>C (p.Val843Leu)
c.2302G>C (p.Val768Leu)
c.3397G>C (p.Val1133Leu)
c.1370G>C
c.*693G>C (n.*693G>C)
n.4336G>C
n.2937G>C
c.3448G>C (p.Val1150Leu)
c.3496G>C (p.Val1166Leu)
c.3556G>C (p.Val1186Leu)
c.3106G>C (p.Val1036Leu)
c.1408G>C (p.Val470Leu)
c.1225G>C (p.Val409Leu)
c.3457G>C (p.Val1153Leu)
c.3409G>C (p.Val1137Leu)
c.3178G>C (p.Val1060Leu)
c.3079G>C (p.Val1027Leu)
c.2260G>C (p.Val754Leu)
n.3811G>C
13g.51939158C>TCA388024427ATP7Bc.*1242G>A (n.*1242G>A)
c.*2336G>A (n.*2336G>A)
c.2971G>A (p.Val991Ile)
c.3592G>A (p.Val1198Ile)
c.3259G>A (p.Val1087Ile)
c.3340G>A (p.Val1114Ile)
n.833G>A
c.3358G>A (p.Val1120Ile)
n.3731G>A
n.458G>A
c.2527G>A (p.Val843Ile)
c.2302G>A (p.Val768Ile)
c.3397G>A (p.Val1133Ile)
c.1370G>A
c.*693G>A (n.*693G>A)
n.4336G>A
n.2937G>A
c.3448G>A (p.Val1150Ile)
c.3496G>A (p.Val1166Ile)
c.3556G>A (p.Val1186Ile)
c.3106G>A (p.Val1036Ile)
c.1408G>A (p.Val470Ile)
c.1225G>A (p.Val409Ile)
c.3457G>A (p.Val1153Ile)
c.3409G>A (p.Val1137Ile)
c.3178G>A (p.Val1060Ile)
c.3079G>A (p.Val1027Ile)
c.2260G>A (p.Val754Ile)
n.3811G>A
13g.51939159A=CA2091556892ATP7Bc.*1241T= (n.*1241T=)
c.*2335T= (n.*2335T=)
c.2970T= (p.Ala990=)
c.3591T= (p.Ala1197=)
c.3258T= (p.Ala1086=)
c.3339T= (p.Ala1113=)
n.832T=
c.3357T= (p.Ala1119=)
n.3730T=
n.457T=
c.2526T= (p.Ala842=)
c.2301T= (p.Ala767=)
c.3396T= (p.Ala1132=)
c.1369T=
c.*692T= (n.*692T=)
n.4335T=
n.2936T=
c.3447T= (p.Ala1149=)
c.3495T= (p.Ala1165=)
c.3555T= (p.Ala1185=)
c.3105T= (p.Ala1035=)
c.1407T= (p.Ala469=)
c.1224T= (p.Ala408=)
c.3456T= (p.Ala1152=)
c.3408T= (p.Ala1136=)
c.3177T= (p.Ala1059=)
c.3078T= (p.Ala1026=)
c.2259T= (p.Ala753=)
n.3810T=
13g.51939159A>CCA483893809ATP7Bc.*1241T>G (n.*1241T>G)
c.*2335T>G (n.*2335T>G)
c.2970T>G (p.Ala990=)
c.3591T>G (p.Ala1197=)
c.3258T>G (p.Ala1086=)
c.3339T>G (p.Ala1113=)
n.832T>G
c.3357T>G (p.Ala1119=)
n.3730T>G
n.457T>G
c.2526T>G (p.Ala842=)
c.2301T>G (p.Ala767=)
c.3396T>G (p.Ala1132=)
c.1369T>G
c.*692T>G (n.*692T>G)
n.4335T>G
n.2936T>G
c.3447T>G (p.Ala1149=)
c.3495T>G (p.Ala1165=)
c.3555T>G (p.Ala1185=)
c.3105T>G (p.Ala1035=)
c.1407T>G (p.Ala469=)
c.1224T>G (p.Ala408=)
c.3456T>G (p.Ala1152=)
c.3408T>G (p.Ala1136=)
c.3177T>G (p.Ala1059=)
c.3078T>G (p.Ala1026=)
c.2259T>G (p.Ala753=)
n.3810T>G
13g.51939159A>GCA483893810ATP7Bc.*1241T>C (n.*1241T>C)
c.*2335T>C (n.*2335T>C)
c.2970T>C (p.Ala990=)
c.3591T>C (p.Ala1197=)
c.3258T>C (p.Ala1086=)
c.3339T>C (p.Ala1113=)
n.832T>C
c.3357T>C (p.Ala1119=)
n.3730T>C
n.457T>C
c.2526T>C (p.Ala842=)
c.2301T>C (p.Ala767=)
c.3396T>C (p.Ala1132=)
c.1369T>C
c.*692T>C (n.*692T>C)
n.4335T>C
n.2936T>C
c.3447T>C (p.Ala1149=)
c.3495T>C (p.Ala1165=)
c.3555T>C (p.Ala1185=)
c.3105T>C (p.Ala1035=)
c.1407T>C (p.Ala469=)
c.1224T>C (p.Ala408=)
c.3456T>C (p.Ala1152=)
c.3408T>C (p.Ala1136=)
c.3177T>C (p.Ala1059=)
c.3078T>C (p.Ala1026=)
c.2259T>C (p.Ala753=)
n.3810T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51939159A>TCA483893811ATP7Bc.*1241T>A (n.*1241T>A)
c.*2335T>A (n.*2335T>A)
c.2970T>A (p.Ala990=)
c.3591T>A (p.Ala1197=)
c.3258T>A (p.Ala1086=)
c.3339T>A (p.Ala1113=)
n.832T>A
c.3357T>A (p.Ala1119=)
n.3730T>A
n.457T>A
c.2526T>A (p.Ala842=)
c.2301T>A (p.Ala767=)
c.3396T>A (p.Ala1132=)
c.1369T>A
c.*692T>A (n.*692T>A)
n.4335T>A
n.2936T>A
c.3447T>A (p.Ala1149=)
c.3495T>A (p.Ala1165=)
c.3555T>A (p.Ala1185=)
c.3105T>A (p.Ala1035=)
c.1407T>A (p.Ala469=)
c.1224T>A (p.Ala408=)
c.3456T>A (p.Ala1152=)
c.3408T>A (p.Ala1136=)
c.3177T>A (p.Ala1059=)
c.3078T>A (p.Ala1026=)
c.2259T>A (p.Ala753=)
n.3810T>A
13g.51939160G>ACA388024432ATP7Bc.*1240C>T (n.*1240C>T)
c.*2334C>T (n.*2334C>T)
c.2969C>T (p.Ala990Val)
c.3590C>T (p.Ala1197Val)
c.3257C>T (p.Ala1086Val)
c.3338C>T (p.Ala1113Val)
n.831C>T
c.3356C>T (p.Ala1119Val)
n.3729C>T
n.456C>T
c.2525C>T (p.Ala842Val)
c.2300C>T (p.Ala767Val)
c.3395C>T (p.Ala1132Val)
c.1368C>T
c.*691C>T (n.*691C>T)
n.4334C>T
n.2935C>T
c.3446C>T (p.Ala1149Val)
c.3494C>T (p.Ala1165Val)
c.3554C>T (p.Ala1185Val)
c.3104C>T (p.Ala1035Val)
c.1406C>T (p.Ala469Val)
c.1223C>T (p.Ala408Val)
c.3455C>T (p.Ala1152Val)
c.3407C>T (p.Ala1136Val)
c.3176C>T (p.Ala1059Val)
c.3077C>T (p.Ala1026Val)
c.2258C>T (p.Ala753Val)
n.3809C>T
13g.51939160G>CCA388024437ATP7Bc.*1240C>G (n.*1240C>G)
c.*2334C>G (n.*2334C>G)
c.2969C>G (p.Ala990Gly)
c.3590C>G (p.Ala1197Gly)
c.3257C>G (p.Ala1086Gly)
c.3338C>G (p.Ala1113Gly)
n.831C>G
c.3356C>G (p.Ala1119Gly)
n.3729C>G
n.456C>G
c.2525C>G (p.Ala842Gly)
c.2300C>G (p.Ala767Gly)
c.3395C>G (p.Ala1132Gly)
c.1368C>G
c.*691C>G (n.*691C>G)
n.4334C>G
n.2935C>G
c.3446C>G (p.Ala1149Gly)
c.3494C>G (p.Ala1165Gly)
c.3554C>G (p.Ala1185Gly)
c.3104C>G (p.Ala1035Gly)
c.1406C>G (p.Ala469Gly)
c.1223C>G (p.Ala408Gly)
c.3455C>G (p.Ala1152Gly)
c.3407C>G (p.Ala1136Gly)
c.3176C>G (p.Ala1059Gly)
c.3077C>G (p.Ala1026Gly)
c.2258C>G (p.Ala753Gly)
n.3809C>G
13g.51939160G>TCA388024443ATP7Bc.*1240C>A (n.*1240C>A)
c.*2334C>A (n.*2334C>A)
c.2969C>A (p.Ala990Asp)
c.3590C>A (p.Ala1197Asp)
c.3257C>A (p.Ala1086Asp)
c.3338C>A (p.Ala1113Asp)
n.831C>A
c.3356C>A (p.Ala1119Asp)
n.3729C>A
n.456C>A
c.2525C>A (p.Ala842Asp)
c.2300C>A (p.Ala767Asp)
c.3395C>A (p.Ala1132Asp)
c.1368C>A
c.*691C>A (n.*691C>A)
n.4334C>A
n.2935C>A
c.3446C>A (p.Ala1149Asp)
c.3494C>A (p.Ala1165Asp)
c.3554C>A (p.Ala1185Asp)
c.3104C>A (p.Ala1035Asp)
c.1406C>A (p.Ala469Asp)
c.1223C>A (p.Ala408Asp)
c.3455C>A (p.Ala1152Asp)
c.3407C>A (p.Ala1136Asp)
c.3176C>A (p.Ala1059Asp)
c.3077C>A (p.Ala1026Asp)
c.2258C>A (p.Ala753Asp)
n.3809C>A
13g.51939161C>ACA6988628ATP7Bc.*1239G>T (n.*1239G>T)
c.*2333G>T (n.*2333G>T)
c.2968G>T (p.Ala990Ser)
c.3589G>T (p.Ala1197Ser)
c.3256G>T (p.Ala1086Ser)
c.3337G>T (p.Ala1113Ser)
n.830G>T
c.3355G>T (p.Ala1119Ser)
n.3728G>T
n.455G>T
c.2524G>T (p.Ala842Ser)
c.2299G>T (p.Ala767Ser)
c.3394G>T (p.Ala1132Ser)
c.1367G>T
c.*690G>T (n.*690G>T)
n.4333G>T
n.2934G>T
c.3445G>T (p.Ala1149Ser)
c.3493G>T (p.Ala1165Ser)
c.3553G>T (p.Ala1185Ser)
c.3103G>T (p.Ala1035Ser)
c.1405G>T (p.Ala469Ser)
c.1222G>T (p.Ala408Ser)
c.3454G>T (p.Ala1152Ser)
c.3406G>T (p.Ala1136Ser)
c.3175G>T (p.Ala1059Ser)
c.3076G>T (p.Ala1026Ser)
c.2257G>T (p.Ala753Ser)
n.3808G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939161C=CA2091556898ATP7Bc.*1239G= (n.*1239G=)
c.*2333G= (n.*2333G=)
c.2968G= (p.Ala990=)
c.3589G= (p.Ala1197=)
c.3256G= (p.Ala1086=)
c.3337G= (p.Ala1113=)
n.830G=
c.3355G= (p.Ala1119=)
n.3728G=
n.455G=
c.2524G= (p.Ala842=)
c.2299G= (p.Ala767=)
c.3394G= (p.Ala1132=)
c.1367G=
c.*690G= (n.*690G=)
n.4333G=
n.2934G=
c.3445G= (p.Ala1149=)
c.3493G= (p.Ala1165=)
c.3553G= (p.Ala1185=)
c.3103G= (p.Ala1035=)
c.1405G= (p.Ala469=)
c.1222G= (p.Ala408=)
c.3454G= (p.Ala1152=)
c.3406G= (p.Ala1136=)
c.3175G= (p.Ala1059=)
c.3076G= (p.Ala1026=)
c.2257G= (p.Ala753=)
n.3808G=
13g.51939161C>GCA388024477ATP7Bc.*1239G>C (n.*1239G>C)
c.*2333G>C (n.*2333G>C)
c.2968G>C (p.Ala990Pro)
c.3589G>C (p.Ala1197Pro)
c.3256G>C (p.Ala1086Pro)
c.3337G>C (p.Ala1113Pro)
n.830G>C
c.3355G>C (p.Ala1119Pro)
n.3728G>C
n.455G>C
c.2524G>C (p.Ala842Pro)
c.2299G>C (p.Ala767Pro)
c.3394G>C (p.Ala1132Pro)
c.1367G>C
c.*690G>C (n.*690G>C)
n.4333G>C
n.2934G>C
c.3445G>C (p.Ala1149Pro)
c.3493G>C (p.Ala1165Pro)
c.3553G>C (p.Ala1185Pro)
c.3103G>C (p.Ala1035Pro)
c.1405G>C (p.Ala469Pro)
c.1222G>C (p.Ala408Pro)
c.3454G>C (p.Ala1152Pro)
c.3406G>C (p.Ala1136Pro)
c.3175G>C (p.Ala1059Pro)
c.3076G>C (p.Ala1026Pro)
c.2257G>C (p.Ala753Pro)
n.3808G>C
13g.51939161C>TCA6988627ATP7Bc.*1239G>A (n.*1239G>A)
c.*2333G>A (n.*2333G>A)
c.2968G>A (p.Ala990Thr)
c.3589G>A (p.Ala1197Thr)
c.3256G>A (p.Ala1086Thr)
c.3337G>A (p.Ala1113Thr)
n.830G>A
c.3355G>A (p.Ala1119Thr)
n.3728G>A
n.455G>A
c.2524G>A (p.Ala842Thr)
c.2299G>A (p.Ala767Thr)
c.3394G>A (p.Ala1132Thr)
c.1367G>A
c.*690G>A (n.*690G>A)
n.4333G>A
n.2934G>A
c.3445G>A (p.Ala1149Thr)
c.3493G>A (p.Ala1165Thr)
c.3553G>A (p.Ala1185Thr)
c.3103G>A (p.Ala1035Thr)
c.1405G>A (p.Ala469Thr)
c.1222G>A (p.Ala408Thr)
c.3454G>A (p.Ala1152Thr)
c.3406G>A (p.Ala1136Thr)
c.3175G>A (p.Ala1059Thr)
c.3076G>A (p.Ala1026Thr)
c.2257G>A (p.Ala753Thr)
n.3808G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51939162G>ACA260143ATP7Bc.*1238C>T (n.*1238C>T)
c.*2332C>T (n.*2332C>T)
c.2967C>T (p.Asp989=)
c.3588C>T (p.Asp1196=)
c.3255C>T (p.Asp1085=)
c.3336C>T (p.Asp1112=)
n.829C>T
c.3354C>T (p.Asp1118=)
n.3727C>T
n.454C>T
c.2523C>T (p.Asp841=)
c.2298C>T (p.Asp766=)
c.3393C>T (p.Asp1131=)
c.1366C>T
c.*689C>T (n.*689C>T)
n.4332C>T
n.2933C>T
c.3444C>T (p.Asp1148=)
c.3492C>T (p.Asp1164=)
c.3552C>T (p.Asp1184=)
c.3102C>T (p.Asp1034=)
c.1404C>T (p.Asp468=)
c.1221C>T (p.Asp407=)
c.3453C>T (p.Asp1151=)
c.3405C>T (p.Asp1135=)
c.3174C>T (p.Asp1058=)
c.3075C>T (p.Asp1025=)
c.2256C>T (p.Asp752=)
n.3807C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939162G>CCA388024492ATP7Bc.*1238C>G (n.*1238C>G)
c.*2332C>G (n.*2332C>G)
c.2967C>G (p.Asp989Glu)
c.3588C>G (p.Asp1196Glu)
c.3255C>G (p.Asp1085Glu)
c.3336C>G (p.Asp1112Glu)
n.829C>G
c.3354C>G (p.Asp1118Glu)
n.3727C>G
n.454C>G
c.2523C>G (p.Asp841Glu)
c.2298C>G (p.Asp766Glu)
c.3393C>G (p.Asp1131Glu)
c.1366C>G
c.*689C>G (n.*689C>G)
n.4332C>G
n.2933C>G
c.3444C>G (p.Asp1148Glu)
c.3492C>G (p.Asp1164Glu)
c.3552C>G (p.Asp1184Glu)
c.3102C>G (p.Asp1034Glu)
c.1404C>G (p.Asp468Glu)
c.1221C>G (p.Asp407Glu)
c.3453C>G (p.Asp1151Glu)
c.3405C>G (p.Asp1135Glu)
c.3174C>G (p.Asp1058Glu)
c.3075C>G (p.Asp1025Glu)
c.2256C>G (p.Asp752Glu)
n.3807C>G
13g.51939162G=CA2091556908ATP7Bc.*1238C= (n.*1238C=)
c.*2332C= (n.*2332C=)
c.2967C= (p.Asp989=)
c.3588C= (p.Asp1196=)
c.3255C= (p.Asp1085=)
c.3336C= (p.Asp1112=)
n.829C=
c.3354C= (p.Asp1118=)
n.3727C=
n.454C=
c.2523C= (p.Asp841=)
c.2298C= (p.Asp766=)
c.3393C= (p.Asp1131=)
c.1366C=
c.*689C= (n.*689C=)
n.4332C=
n.2933C=
c.3444C= (p.Asp1148=)
c.3492C= (p.Asp1164=)
c.3552C= (p.Asp1184=)
c.3102C= (p.Asp1034=)
c.1404C= (p.Asp468=)
c.1221C= (p.Asp407=)
c.3453C= (p.Asp1151=)
c.3405C= (p.Asp1135=)
c.3174C= (p.Asp1058=)
c.3075C= (p.Asp1025=)
c.2256C= (p.Asp752=)
n.3807C=
13g.51939162G>TCA388024487ATP7Bc.*1238C>A (n.*1238C>A)
c.*2332C>A (n.*2332C>A)
c.2967C>A (p.Asp989Glu)
c.3588C>A (p.Asp1196Glu)
c.3255C>A (p.Asp1085Glu)
c.3336C>A (p.Asp1112Glu)
n.829C>A
c.3354C>A (p.Asp1118Glu)
n.3727C>A
n.454C>A
c.2523C>A (p.Asp841Glu)
c.2298C>A (p.Asp766Glu)
c.3393C>A (p.Asp1131Glu)
c.1366C>A
c.*689C>A (n.*689C>A)
n.4332C>A
n.2933C>A
c.3444C>A (p.Asp1148Glu)
c.3492C>A (p.Asp1164Glu)
c.3552C>A (p.Asp1184Glu)
c.3102C>A (p.Asp1034Glu)
c.1404C>A (p.Asp468Glu)
c.1221C>A (p.Asp407Glu)
c.3453C>A (p.Asp1151Glu)
c.3405C>A (p.Asp1135Glu)
c.3174C>A (p.Asp1058Glu)
c.3075C>A (p.Asp1025Glu)
c.2256C>A (p.Asp752Glu)
n.3807C>A
13g.51939162dupCA916083353ATP7Bc.*1238dup (n.*1238dup)
c.*2332dup (n.*2332dup)
c.2967dup (p.Ala990ArgfsTer?)
c.3588dup (p.Ala1197ArgfsTer?)
c.3255dup (p.Ala1086ArgfsTer?)
c.3336dup (p.Ala1113ArgfsTer?)
n.829dup
c.3354dup (p.Ala1119ArgfsTer?)
n.3727dup
n.454dup
c.2523dup (p.Ala842ArgfsTer?)
c.2298dup (p.Ala767ArgfsTer?)
c.3393dup (p.Ala1132ArgfsTer?)
c.1366dup
c.*689dup (n.*689dup)
n.4332dup
n.2933dup
c.3444dup (p.Ala1149ArgfsTer?)
c.3492dup (p.Ala1165ArgfsTer?)
c.3552dup (p.Ala1185ArgfsTer?)
c.3102dup (p.Ala1035ArgfsTer?)
c.1404dup (p.Ala469ArgfsTer?)
c.1221dup (p.Ala408ArgfsTer?)
c.3453dup (p.Ala1152ArgfsTer?)
c.3405dup (p.Ala1136ArgfsTer?)
c.3174dup (p.Ala1059ArgfsTer?)
c.3075dup (p.Ala1026ArgfsTer?)
c.2256dup (p.Ala753ArgfsTer?)
n.3807dup
 ClinVar dbSNP
13g.51939163T>ACA388024502ATP7Bc.*1237A>T (n.*1237A>T)
c.*2331A>T (n.*2331A>T)
c.2966A>T (p.Asp989Val)
c.3587A>T (p.Asp1196Val)
c.3254A>T (p.Asp1085Val)
c.3335A>T (p.Asp1112Val)
n.828A>T
c.3353A>T (p.Asp1118Val)
n.3726A>T
n.453A>T
c.2522A>T (p.Asp841Val)
c.2297A>T (p.Asp766Val)
c.3392A>T (p.Asp1131Val)
c.1365A>T
c.*688A>T (n.*688A>T)
n.4331A>T
n.2932A>T
c.3443A>T (p.Asp1148Val)
c.3491A>T (p.Asp1164Val)
c.3551A>T (p.Asp1184Val)
c.3101A>T (p.Asp1034Val)
c.1403A>T (p.Asp468Val)
c.1220A>T (p.Asp407Val)
c.3452A>T (p.Asp1151Val)
c.3404A>T (p.Asp1135Val)
c.3173A>T (p.Asp1058Val)
c.3074A>T (p.Asp1025Val)
c.2255A>T (p.Asp752Val)
n.3806A>T
13g.51939163T>CCA388024506ATP7Bc.*1237A>G (n.*1237A>G)
c.*2331A>G (n.*2331A>G)
c.2966A>G (p.Asp989Gly)
c.3587A>G (p.Asp1196Gly)
c.3254A>G (p.Asp1085Gly)
c.3335A>G (p.Asp1112Gly)
n.828A>G
c.3353A>G (p.Asp1118Gly)
n.3726A>G
n.453A>G
c.2522A>G (p.Asp841Gly)
c.2297A>G (p.Asp766Gly)
c.3392A>G (p.Asp1131Gly)
c.1365A>G
c.*688A>G (n.*688A>G)
n.4331A>G
n.2932A>G
c.3443A>G (p.Asp1148Gly)
c.3491A>G (p.Asp1164Gly)
c.3551A>G (p.Asp1184Gly)
c.3101A>G (p.Asp1034Gly)
c.1403A>G (p.Asp468Gly)
c.1220A>G (p.Asp407Gly)
c.3452A>G (p.Asp1151Gly)
c.3404A>G (p.Asp1135Gly)
c.3173A>G (p.Asp1058Gly)
c.3074A>G (p.Asp1025Gly)
c.2255A>G (p.Asp752Gly)
n.3806A>G
13g.51939163T>GCA388024511ATP7Bc.*1237A>C (n.*1237A>C)
c.*2331A>C (n.*2331A>C)
c.2966A>C (p.Asp989Ala)
c.3587A>C (p.Asp1196Ala)
c.3254A>C (p.Asp1085Ala)
c.3335A>C (p.Asp1112Ala)
n.828A>C
c.3353A>C (p.Asp1118Ala)
n.3726A>C
n.453A>C
c.2522A>C (p.Asp841Ala)
c.2297A>C (p.Asp766Ala)
c.3392A>C (p.Asp1131Ala)
c.1365A>C
c.*688A>C (n.*688A>C)
n.4331A>C
n.2932A>C
c.3443A>C (p.Asp1148Ala)
c.3491A>C (p.Asp1164Ala)
c.3551A>C (p.Asp1184Ala)
c.3101A>C (p.Asp1034Ala)
c.1403A>C (p.Asp468Ala)
c.1220A>C (p.Asp407Ala)
c.3452A>C (p.Asp1151Ala)
c.3404A>C (p.Asp1135Ala)
c.3173A>C (p.Asp1058Ala)
c.3074A>C (p.Asp1025Ala)
c.2255A>C (p.Asp752Ala)
n.3806A>C
13g.51939164C>ACA388024521ATP7Bc.*1236G>T (n.*1236G>T)
c.*2330G>T (n.*2330G>T)
c.2965G>T (p.Asp989Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3253G>T (p.Asp1085Tyr)
c.3334G>T (p.Asp1112Tyr)
n.827G>T
c.3352G>T (p.Asp1118Tyr)
n.3725G>T
n.452G>T
c.2521G>T (p.Asp841Tyr)
c.2296G>T (p.Asp766Tyr)
c.3391G>T (p.Asp1131Tyr)
c.1364G>T
c.*687G>T (n.*687G>T)
n.4330G>T
n.2931G>T
c.3442G>T (p.Asp1148Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3550G>T (p.Asp1184Tyr)
c.3100G>T (p.Asp1034Tyr)
c.1402G>T (p.Asp468Tyr)
c.1219G>T (p.Asp407Tyr)
c.3451G>T (p.Asp1151Tyr)
c.3403G>T (p.Asp1135Tyr)
c.3172G>T (p.Asp1058Tyr)
c.3073G>T (p.Asp1025Tyr)
c.2254G>T (p.Asp752Tyr)
n.3805G>T
13g.51939164C>GCA388024524ATP7Bc.*1236G>C (n.*1236G>C)
c.*2330G>C (n.*2330G>C)
c.2965G>C (p.Asp989His)
c.3586G>C (p.Asp1196His)
c.3253G>C (p.Asp1085His)
c.3334G>C (p.Asp1112His)
n.827G>C
c.3352G>C (p.Asp1118His)
n.3725G>C
n.452G>C
c.2521G>C (p.Asp841His)
c.2296G>C (p.Asp766His)
c.3391G>C (p.Asp1131His)
c.1364G>C
c.*687G>C (n.*687G>C)
n.4330G>C
n.2931G>C
c.3442G>C (p.Asp1148His)
c.3490G>C (p.Asp1164His)
c.3550G>C (p.Asp1184His)
c.3100G>C (p.Asp1034His)
c.1402G>C (p.Asp468His)
c.1219G>C (p.Asp407His)
c.3451G>C (p.Asp1151His)
c.3403G>C (p.Asp1135His)
c.3172G>C (p.Asp1058His)
c.3073G>C (p.Asp1025His)
c.2254G>C (p.Asp752His)
n.3805G>C
 dbSNP
13g.51939164C>TCA388024535ATP7Bc.*1236G>A (n.*1236G>A)
c.*2330G>A (n.*2330G>A)
c.2965G>A (p.Asp989Asn)
c.3586G>A (p.Asp1196Asn)
c.3253G>A (p.Asp1085Asn)
c.3334G>A (p.Asp1112Asn)
n.827G>A
c.3352G>A (p.Asp1118Asn)
n.3725G>A
n.452G>A
c.2521G>A (p.Asp841Asn)
c.2296G>A (p.Asp766Asn)
c.3391G>A (p.Asp1131Asn)
c.1364G>A
c.*687G>A (n.*687G>A)
n.4330G>A
n.2931G>A
c.3442G>A (p.Asp1148Asn)
c.3490G>A (p.Asp1164Asn)
c.3550G>A (p.Asp1184Asn)
c.3100G>A (p.Asp1034Asn)
c.1402G>A (p.Asp468Asn)
c.1219G>A (p.Asp407Asn)
c.3451G>A (p.Asp1151Asn)
c.3403G>A (p.Asp1135Asn)
c.3172G>A (p.Asp1058Asn)
c.3073G>A (p.Asp1025Asn)
c.2254G>A (p.Asp752Asn)
n.3805G>A
13g.51939165T>ACA483893818ATP7Bc.*1235A>T (n.*1235A>T)
c.*2329A>T (n.*2329A>T)
c.2964A>T (p.Ala988=)
c.3585A>T (p.Ala1195=)
c.3252A>T (p.Ala1084=)
c.3333A>T (p.Ala1111=)
n.826A>T
c.3351A>T (p.Ala1117=)
n.3724A>T
n.451A>T
c.2520A>T (p.Ala840=)
c.2295A>T (p.Ala765=)
c.3390A>T (p.Ala1130=)
c.1363A>T
c.*686A>T (n.*686A>T)
n.4329A>T
n.2930A>T
c.3441A>T (p.Ala1147=)
c.3489A>T (p.Ala1163=)
c.3549A>T (p.Ala1183=)
c.3099A>T (p.Ala1033=)
c.1401A>T (p.Ala467=)
c.1218A>T (p.Ala406=)
c.3450A>T (p.Ala1150=)
c.3402A>T (p.Ala1134=)
c.3171A>T (p.Ala1057=)
c.3072A>T (p.Ala1024=)
c.2253A>T (p.Ala751=)
n.3804A>T
13g.51939165T>CCA483893817ATP7Bc.*1235A>G (n.*1235A>G)
c.*2329A>G (n.*2329A>G)
c.2964A>G (p.Ala988=)
c.3585A>G (p.Ala1195=)
c.3252A>G (p.Ala1084=)
c.3333A>G (p.Ala1111=)
n.826A>G
c.3351A>G (p.Ala1117=)
n.3724A>G
n.451A>G
c.2520A>G (p.Ala840=)
c.2295A>G (p.Ala765=)
c.3390A>G (p.Ala1130=)
c.1363A>G
c.*686A>G (n.*686A>G)
n.4329A>G
n.2930A>G
c.3441A>G (p.Ala1147=)
c.3489A>G (p.Ala1163=)
c.3549A>G (p.Ala1183=)
c.3099A>G (p.Ala1033=)
c.1401A>G (p.Ala467=)
c.1218A>G (p.Ala406=)
c.3450A>G (p.Ala1150=)
c.3402A>G (p.Ala1134=)
c.3171A>G (p.Ala1057=)
c.3072A>G (p.Ala1024=)
c.2253A>G (p.Ala751=)
n.3804A>G
13g.51939165T>GCA483893816ATP7Bc.*1235A>C (n.*1235A>C)
c.*2329A>C (n.*2329A>C)
c.2964A>C (p.Ala988=)
c.3585A>C (p.Ala1195=)
c.3252A>C (p.Ala1084=)
c.3333A>C (p.Ala1111=)
n.826A>C
c.3351A>C (p.Ala1117=)
n.3724A>C
n.451A>C
c.2520A>C (p.Ala840=)
c.2295A>C (p.Ala765=)
c.3390A>C (p.Ala1130=)
c.1363A>C
c.*686A>C (n.*686A>C)
n.4329A>C
n.2930A>C
c.3441A>C (p.Ala1147=)
c.3489A>C (p.Ala1163=)
c.3549A>C (p.Ala1183=)
c.3099A>C (p.Ala1033=)
c.1401A>C (p.Ala467=)
c.1218A>C (p.Ala406=)
c.3450A>C (p.Ala1150=)
c.3402A>C (p.Ala1134=)
c.3171A>C (p.Ala1057=)
c.3072A>C (p.Ala1024=)
c.2253A>C (p.Ala751=)
n.3804A>C
13g.51939166G>ACA388024554ATP7Bc.*1234C>T (n.*1234C>T)
c.*2328C>T (n.*2328C>T)
c.2963C>T (p.Ala988Val)
c.3584C>T (p.Ala1195Val)
c.3251C>T (p.Ala1084Val)
c.3332C>T (p.Ala1111Val)
n.825C>T
c.3350C>T (p.Ala1117Val)
n.3723C>T
n.450C>T
c.2519C>T (p.Ala840Val)
c.2294C>T (p.Ala765Val)
c.3389C>T (p.Ala1130Val)
c.1362C>T
c.*685C>T (n.*685C>T)
n.4328C>T
n.2929C>T
c.3440C>T (p.Ala1147Val)
c.3488C>T (p.Ala1163Val)
c.3548C>T (p.Ala1183Val)
c.3098C>T (p.Ala1033Val)
c.1400C>T (p.Ala467Val)
c.1217C>T (p.Ala406Val)
c.3449C>T (p.Ala1150Val)
c.3401C>T (p.Ala1134Val)
c.3170C>T (p.Ala1057Val)
c.3071C>T (p.Ala1024Val)
c.2252C>T (p.Ala751Val)
n.3803C>T
 ClinVar dbSNP gnomAD v4
13g.51939166G>CCA388024562ATP7Bc.*1234C>G (n.*1234C>G)
c.*2328C>G (n.*2328C>G)
c.2963C>G (p.Ala988Gly)
c.3584C>G (p.Ala1195Gly)
c.3251C>G (p.Ala1084Gly)
c.3332C>G (p.Ala1111Gly)
n.825C>G
c.3350C>G (p.Ala1117Gly)
n.3723C>G
n.450C>G
c.2519C>G (p.Ala840Gly)
c.2294C>G (p.Ala765Gly)
c.3389C>G (p.Ala1130Gly)
c.1362C>G
c.*685C>G (n.*685C>G)
n.4328C>G
n.2929C>G
c.3440C>G (p.Ala1147Gly)
c.3488C>G (p.Ala1163Gly)
c.3548C>G (p.Ala1183Gly)
c.3098C>G (p.Ala1033Gly)
c.1400C>G (p.Ala467Gly)
c.1217C>G (p.Ala406Gly)
c.3449C>G (p.Ala1150Gly)
c.3401C>G (p.Ala1134Gly)
c.3170C>G (p.Ala1057Gly)
c.3071C>G (p.Ala1024Gly)
c.2252C>G (p.Ala751Gly)
n.3803C>G
13g.51939166G>TCA388024563ATP7Bc.*1234C>A (n.*1234C>A)
c.*2328C>A (n.*2328C>A)
c.2963C>A (p.Ala988Glu)
c.3584C>A (p.Ala1195Glu)
c.3251C>A (p.Ala1084Glu)
c.3332C>A (p.Ala1111Glu)
n.825C>A
c.3350C>A (p.Ala1117Glu)
n.3723C>A
n.450C>A
c.2519C>A (p.Ala840Glu)
c.2294C>A (p.Ala765Glu)
c.3389C>A (p.Ala1130Glu)
c.1362C>A
c.*685C>A (n.*685C>A)
n.4328C>A
n.2929C>A
c.3440C>A (p.Ala1147Glu)
c.3488C>A (p.Ala1163Glu)
c.3548C>A (p.Ala1183Glu)
c.3098C>A (p.Ala1033Glu)
c.1400C>A (p.Ala467Glu)
c.1217C>A (p.Ala406Glu)
c.3449C>A (p.Ala1150Glu)
c.3401C>A (p.Ala1134Glu)
c.3170C>A (p.Ala1057Glu)
c.3071C>A (p.Ala1024Glu)
c.2252C>A (p.Ala751Glu)
n.3803C>A
13g.51939167_51939168delCA2580087725ATP7Bc.*1233_*1234del (n.*1233_*1234del)
c.*2327_*2328del (n.*2327_*2328del)
c.2962_2963del (p.Ala988ArgfsTer?)
c.3583_3584del (p.Ala1195ArgfsTer?)
c.3250_3251del (p.Ala1084ArgfsTer?)
c.3331_3332del (p.Ala1111ArgfsTer?)
n.824_825del
c.3349_3350del (p.Ala1117ArgfsTer?)
n.3722_3723del
n.449_450del
c.2518_2519del (p.Ala840ArgfsTer?)
c.2293_2294del (p.Ala765ArgfsTer?)
c.3388_3389del (p.Ala1130ArgfsTer?)
c.1361_1362del
c.*684_*685del (n.*684_*685del)
n.4327_4328del
n.2928_2929del
c.3439_3440del (p.Ala1147ArgfsTer?)
c.3487_3488del (p.Ala1163ArgfsTer?)
c.3547_3548del (p.Ala1183ArgfsTer?)
c.3097_3098del (p.Ala1033ArgfsTer?)
c.1399_1400del (p.Ala467ArgfsTer?)
c.1216_1217del (p.Ala406ArgfsTer?)
c.3448_3449del (p.Ala1150ArgfsTer?)
c.3400_3401del (p.Ala1134ArgfsTer?)
c.3169_3170del (p.Ala1057ArgfsTer?)
c.3070_3071del (p.Ala1024ArgfsTer?)
c.2251_2252del (p.Ala751ArgfsTer?)
n.3802_3803del
 ClinVar
13g.51939167C>ACA388024564ATP7Bc.*1233G>T (n.*1233G>T)
c.*2327G>T (n.*2327G>T)
c.2962G>T (p.Ala988Ser)
c.3583G>T (p.Ala1195Ser)
c.3250G>T (p.Ala1084Ser)
c.3331G>T (p.Ala1111Ser)
n.824G>T
c.3349G>T (p.Ala1117Ser)
n.3722G>T
n.449G>T
c.2518G>T (p.Ala840Ser)
c.2293G>T (p.Ala765Ser)
c.3388G>T (p.Ala1130Ser)
c.1361G>T
c.*684G>T (n.*684G>T)
n.4327G>T
n.2928G>T
c.3439G>T (p.Ala1147Ser)
c.3487G>T (p.Ala1163Ser)
c.3547G>T (p.Ala1183Ser)
c.3097G>T (p.Ala1033Ser)
c.1399G>T (p.Ala467Ser)
c.1216G>T (p.Ala406Ser)
c.3448G>T (p.Ala1150Ser)
c.3400G>T (p.Ala1134Ser)
c.3169G>T (p.Ala1057Ser)
c.3070G>T (p.Ala1024Ser)
c.2251G>T (p.Ala751Ser)
n.3802G>T
13g.51939167C=CA2091556914ATP7Bc.*1233G= (n.*1233G=)
c.*2327G= (n.*2327G=)
c.2962G= (p.Ala988=)
c.3583G= (p.Ala1195=)
c.3250G= (p.Ala1084=)
c.3331G= (p.Ala1111=)
n.824G=
c.3349G= (p.Ala1117=)
n.3722G=
n.449G=
c.2518G= (p.Ala840=)
c.2293G= (p.Ala765=)
c.3388G= (p.Ala1130=)
c.1361G=
c.*684G= (n.*684G=)
n.4327G=
n.2928G=
c.3439G= (p.Ala1147=)
c.3487G= (p.Ala1163=)
c.3547G= (p.Ala1183=)
c.3097G= (p.Ala1033=)
c.1399G= (p.Ala467=)
c.1216G= (p.Ala406=)
c.3448G= (p.Ala1150=)
c.3400G= (p.Ala1134=)
c.3169G= (p.Ala1057=)
c.3070G= (p.Ala1024=)
c.2251G= (p.Ala751=)
n.3802G=
13g.51939167C>GCA388024567ATP7Bc.*1233G>C (n.*1233G>C)
c.*2327G>C (n.*2327G>C)
c.2962G>C (p.Ala988Pro)
c.3583G>C (p.Ala1195Pro)
c.3250G>C (p.Ala1084Pro)
c.3331G>C (p.Ala1111Pro)
n.824G>C
c.3349G>C (p.Ala1117Pro)
n.3722G>C
n.449G>C
c.2518G>C (p.Ala840Pro)
c.2293G>C (p.Ala765Pro)
c.3388G>C (p.Ala1130Pro)
c.1361G>C
c.*684G>C (n.*684G>C)
n.4327G>C
n.2928G>C
c.3439G>C (p.Ala1147Pro)
c.3487G>C (p.Ala1163Pro)
c.3547G>C (p.Ala1183Pro)
c.3097G>C (p.Ala1033Pro)
c.1399G>C (p.Ala467Pro)
c.1216G>C (p.Ala406Pro)
c.3448G>C (p.Ala1150Pro)
c.3400G>C (p.Ala1134Pro)
c.3169G>C (p.Ala1057Pro)
c.3070G>C (p.Ala1024Pro)
c.2251G>C (p.Ala751Pro)
n.3802G>C
13g.51939167C>TCA6988629ATP7Bc.*1233G>A (n.*1233G>A)
c.*2327G>A (n.*2327G>A)
c.2962G>A (p.Ala988Thr)
c.3583G>A (p.Ala1195Thr)
c.3250G>A (p.Ala1084Thr)
c.3331G>A (p.Ala1111Thr)
n.824G>A
c.3349G>A (p.Ala1117Thr)
n.3722G>A
n.449G>A
c.2518G>A (p.Ala840Thr)
c.2293G>A (p.Ala765Thr)
c.3388G>A (p.Ala1130Thr)
c.1361G>A
c.*684G>A (n.*684G>A)
n.4327G>A
n.2928G>A
c.3439G>A (p.Ala1147Thr)
c.3487G>A (p.Ala1163Thr)
c.3547G>A (p.Ala1183Thr)
c.3097G>A (p.Ala1033Thr)
c.1399G>A (p.Ala467Thr)
c.1216G>A (p.Ala406Thr)
c.3448G>A (p.Ala1150Thr)
c.3400G>A (p.Ala1134Thr)
c.3169G>A (p.Ala1057Thr)
c.3070G>A (p.Ala1024Thr)
c.2251G>A (p.Ala751Thr)
n.3802G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939168G>ACA6988630ATP7Bc.*1232C>T (n.*1232C>T)
c.*2326C>T (n.*2326C>T)
c.2961C>T (p.Ile987=)
c.3582C>T (p.Ile1194=)
c.3249C>T (p.Ile1083=)
c.3330C>T (p.Ile1110=)
n.823C>T
c.3348C>T (p.Ile1116=)
n.3721C>T
n.448C>T
c.2517C>T (p.Ile839=)
c.2292C>T (p.Ile764=)
c.3387C>T (p.Ile1129=)
c.1360C>T
c.*683C>T (n.*683C>T)
n.4326C>T
n.2927C>T
c.3438C>T (p.Ile1146=)
c.3486C>T (p.Ile1162=)
c.3546C>T (p.Ile1182=)
c.3096C>T (p.Ile1032=)
c.1398C>T (p.Ile466=)
c.1215C>T (p.Ile405=)
c.3447C>T (p.Ile1149=)
c.3399C>T (p.Ile1133=)
c.3168C>T (p.Ile1056=)
c.3069C>T (p.Ile1023=)
c.2250C>T (p.Ile750=)
n.3801C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939168G>CCA388024576ATP7Bc.*1232C>G (n.*1232C>G)
c.*2326C>G (n.*2326C>G)
c.2961C>G (p.Ile987Met)
c.3582C>G (p.Ile1194Met)
c.3249C>G (p.Ile1083Met)
c.3330C>G (p.Ile1110Met)
n.823C>G
c.3348C>G (p.Ile1116Met)
n.3721C>G
n.448C>G
c.2517C>G (p.Ile839Met)
c.2292C>G (p.Ile764Met)
c.3387C>G (p.Ile1129Met)
c.1360C>G
c.*683C>G (n.*683C>G)
n.4326C>G
n.2927C>G
c.3438C>G (p.Ile1146Met)
c.3486C>G (p.Ile1162Met)
c.3546C>G (p.Ile1182Met)
c.3096C>G (p.Ile1032Met)
c.1398C>G (p.Ile466Met)
c.1215C>G (p.Ile405Met)
c.3447C>G (p.Ile1149Met)
c.3399C>G (p.Ile1133Met)
c.3168C>G (p.Ile1056Met)
c.3069C>G (p.Ile1023Met)
c.2250C>G (p.Ile750Met)
n.3801C>G
13g.51939168G=CA2091556923ATP7Bc.*1232C= (n.*1232C=)
c.*2326C= (n.*2326C=)
c.2961C= (p.Ile987=)
c.3582C= (p.Ile1194=)
c.3249C= (p.Ile1083=)
c.3330C= (p.Ile1110=)
n.823C=
c.3348C= (p.Ile1116=)
n.3721C=
n.448C=
c.2517C= (p.Ile839=)
c.2292C= (p.Ile764=)
c.3387C= (p.Ile1129=)
c.1360C=
c.*683C= (n.*683C=)
n.4326C=
n.2927C=
c.3438C= (p.Ile1146=)
c.3486C= (p.Ile1162=)
c.3546C= (p.Ile1182=)
c.3096C= (p.Ile1032=)
c.1398C= (p.Ile466=)
c.1215C= (p.Ile405=)
c.3447C= (p.Ile1149=)
c.3399C= (p.Ile1133=)
c.3168C= (p.Ile1056=)
c.3069C= (p.Ile1023=)
c.2250C= (p.Ile750=)
n.3801C=
13g.51939168G>TCA483893819ATP7Bc.*1232C>A (n.*1232C>A)
c.*2326C>A (n.*2326C>A)
c.2961C>A (p.Ile987=)
c.3582C>A (p.Ile1194=)
c.3249C>A (p.Ile1083=)
c.3330C>A (p.Ile1110=)
n.823C>A
c.3348C>A (p.Ile1116=)
n.3721C>A
n.448C>A
c.2517C>A (p.Ile839=)
c.2292C>A (p.Ile764=)
c.3387C>A (p.Ile1129=)
c.1360C>A
c.*683C>A (n.*683C>A)
n.4326C>A
n.2927C>A
c.3438C>A (p.Ile1146=)
c.3486C>A (p.Ile1162=)
c.3546C>A (p.Ile1182=)
c.3096C>A (p.Ile1032=)
c.1398C>A (p.Ile466=)
c.1215C>A (p.Ile405=)
c.3447C>A (p.Ile1149=)
c.3399C>A (p.Ile1133=)
c.3168C>A (p.Ile1056=)
c.3069C>A (p.Ile1023=)
c.2250C>A (p.Ile750=)
n.3801C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51939168_51939169insGCAGAGCCAGCGGCAGGCGCTTCATTCTTGCCGCAGGCGGCCAGCATGGCGGCAGCGGCCAGGGCCGCCAGAACGAGAGATTTATCGAAGGACTTGTTCATTTTGTGAACCTCCATGAGTCACGAATCA483893820ATP7Bc.*1231_*1232insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (n.*1231_*1232insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC)
c.*2325_*2326insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (n.*2325_*2326insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC)
c.2960_2961insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala988PhefsTer15)
c.3581_3582insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1195PhefsTer15)
c.3248_3249insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1084PhefsTer15)
c.3329_3330insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1111PhefsTer15)
n.822_823insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC
c.3347_3348insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1117PhefsTer15)
n.3720_3721insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC
n.447_448insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC
c.2516_2517insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala840PhefsTer15)
c.2291_2292insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala765PhefsTer15)
c.3386_3387insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1130PhefsTer15)
c.1359_1360insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC
c.*682_*683insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (n.*682_*683insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC)
n.4325_4326insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC
n.2926_2927insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC
c.3437_3438insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1147PhefsTer15)
c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1163PhefsTer15)
c.3545_3546insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1183PhefsTer15)
c.3095_3096insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1033PhefsTer15)
c.1397_1398insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala467PhefsTer15)
c.1214_1215insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala406PhefsTer15)
c.3446_3447insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1150PhefsTer15)
c.3398_3399insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1134PhefsTer15)
c.3167_3168insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1057PhefsTer15)
c.3068_3069insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala1024PhefsTer15)
c.2249_2250insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC (p.Ala751PhefsTer15)
n.3800_3801insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC
13g.51939169A>CCA388024585ATP7Bc.*1231T>G (n.*1231T>G)
c.*2325T>G (n.*2325T>G)
c.2960T>G (p.Ile987Ser)
c.3581T>G (p.Ile1194Ser)
c.3248T>G (p.Ile1083Ser)
c.3329T>G (p.Ile1110Ser)
n.822T>G
c.3347T>G (p.Ile1116Ser)
n.3720T>G
n.447T>G
c.2516T>G (p.Ile839Ser)
c.2291T>G (p.Ile764Ser)
c.3386T>G (p.Ile1129Ser)
c.1359T>G
c.*682T>G (n.*682T>G)
n.4325T>G
n.2926T>G
c.3437T>G (p.Ile1146Ser)
c.3485T>G (p.Ile1162Ser)
c.3545T>G (p.Ile1182Ser)
c.3095T>G (p.Ile1032Ser)
c.1397T>G (p.Ile466Ser)
c.1214T>G (p.Ile405Ser)
c.3446T>G (p.Ile1149Ser)
c.3398T>G (p.Ile1133Ser)
c.3167T>G (p.Ile1056Ser)
c.3068T>G (p.Ile1023Ser)
c.2249T>G (p.Ile750Ser)
n.3800T>G
13g.51939169A>GCA388024590ATP7Bc.*1231T>C (n.*1231T>C)
c.*2325T>C (n.*2325T>C)
c.2960T>C (p.Ile987Thr)
c.3581T>C (p.Ile1194Thr)
c.3248T>C (p.Ile1083Thr)
c.3329T>C (p.Ile1110Thr)
n.822T>C
c.3347T>C (p.Ile1116Thr)
n.3720T>C
n.447T>C
c.2516T>C (p.Ile839Thr)
c.2291T>C (p.Ile764Thr)
c.3386T>C (p.Ile1129Thr)
c.1359T>C
c.*682T>C (n.*682T>C)
n.4325T>C
n.2926T>C
c.3437T>C (p.Ile1146Thr)
c.3485T>C (p.Ile1162Thr)
c.3545T>C (p.Ile1182Thr)
c.3095T>C (p.Ile1032Thr)
c.1397T>C (p.Ile466Thr)
c.1214T>C (p.Ile405Thr)
c.3446T>C (p.Ile1149Thr)
c.3398T>C (p.Ile1133Thr)
c.3167T>C (p.Ile1056Thr)
c.3068T>C (p.Ile1023Thr)
c.2249T>C (p.Ile750Thr)
n.3800T>C
13g.51939169A>TCA388024593ATP7Bc.*1231T>A (n.*1231T>A)
c.*2325T>A (n.*2325T>A)
c.2960T>A (p.Ile987Asn)
c.3581T>A (p.Ile1194Asn)
c.3248T>A (p.Ile1083Asn)
c.3329T>A (p.Ile1110Asn)
n.822T>A
c.3347T>A (p.Ile1116Asn)
n.3720T>A
n.447T>A
c.2516T>A (p.Ile839Asn)
c.2291T>A (p.Ile764Asn)
c.3386T>A (p.Ile1129Asn)
c.1359T>A
c.*682T>A (n.*682T>A)
n.4325T>A
n.2926T>A
c.3437T>A (p.Ile1146Asn)
c.3485T>A (p.Ile1162Asn)
c.3545T>A (p.Ile1182Asn)
c.3095T>A (p.Ile1032Asn)
c.1397T>A (p.Ile466Asn)
c.1214T>A (p.Ile405Asn)
c.3446T>A (p.Ile1149Asn)
c.3398T>A (p.Ile1133Asn)
c.3167T>A (p.Ile1056Asn)
c.3068T>A (p.Ile1023Asn)
c.2249T>A (p.Ile750Asn)
n.3800T>A
13g.51939170T>ACA388024598ATP7Bc.*1230A>T (n.*1230A>T)
c.*2324A>T (n.*2324A>T)
c.2959A>T (p.Ile987Phe)
c.3580A>T (p.Ile1194Phe)
c.3247A>T (p.Ile1083Phe)
c.3328A>T (p.Ile1110Phe)
n.821A>T
c.3346A>T (p.Ile1116Phe)
n.3719A>T
n.446A>T
c.2515A>T (p.Ile839Phe)
c.2290A>T (p.Ile764Phe)
c.3385A>T (p.Ile1129Phe)
c.1358A>T
c.*681A>T (n.*681A>T)
n.4324A>T
n.2925A>T
c.3436A>T (p.Ile1146Phe)
c.3484A>T (p.Ile1162Phe)
c.3544A>T (p.Ile1182Phe)
c.3094A>T (p.Ile1032Phe)
c.1396A>T (p.Ile466Phe)
c.1213A>T (p.Ile405Phe)
c.3445A>T (p.Ile1149Phe)
c.3397A>T (p.Ile1133Phe)
c.3166A>T (p.Ile1056Phe)
c.3067A>T (p.Ile1023Phe)
c.2248A>T (p.Ile750Phe)
n.3799A>T
13g.51939170T>CCA6988631ATP7Bc.*1230A>G (n.*1230A>G)
c.*2324A>G (n.*2324A>G)
c.2959A>G (p.Ile987Val)
c.3580A>G (p.Ile1194Val)
c.3247A>G (p.Ile1083Val)
c.3328A>G (p.Ile1110Val)
n.821A>G
c.3346A>G (p.Ile1116Val)
n.3719A>G
n.446A>G
c.2515A>G (p.Ile839Val)
c.2290A>G (p.Ile764Val)
c.3385A>G (p.Ile1129Val)
c.1358A>G
c.*681A>G (n.*681A>G)
n.4324A>G
n.2925A>G
c.3436A>G (p.Ile1146Val)
c.3484A>G (p.Ile1162Val)
c.3544A>G (p.Ile1182Val)
c.3094A>G (p.Ile1032Val)
c.1396A>G (p.Ile466Val)
c.1213A>G (p.Ile405Val)
c.3445A>G (p.Ile1149Val)
c.3397A>G (p.Ile1133Val)
c.3166A>G (p.Ile1056Val)
c.3067A>G (p.Ile1023Val)
c.2248A>G (p.Ile750Val)
n.3799A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51939170T>GCA388024610ATP7Bc.*1230A>C (n.*1230A>C)
c.*2324A>C (n.*2324A>C)
c.2959A>C (p.Ile987Leu)
c.3580A>C (p.Ile1194Leu)
c.3247A>C (p.Ile1083Leu)
c.3328A>C (p.Ile1110Leu)
n.821A>C
c.3346A>C (p.Ile1116Leu)
n.3719A>C
n.446A>C
c.2515A>C (p.Ile839Leu)
c.2290A>C (p.Ile764Leu)
c.3385A>C (p.Ile1129Leu)
c.1358A>C
c.*681A>C (n.*681A>C)
n.4324A>C
n.2925A>C
c.3436A>C (p.Ile1146Leu)
c.3484A>C (p.Ile1162Leu)
c.3544A>C (p.Ile1182Leu)
c.3094A>C (p.Ile1032Leu)
c.1396A>C (p.Ile466Leu)
c.1213A>C (p.Ile405Leu)
c.3445A>C (p.Ile1149Leu)
c.3397A>C (p.Ile1133Leu)
c.3166A>C (p.Ile1056Leu)
c.3067A>C (p.Ile1023Leu)
c.2248A>C (p.Ile750Leu)
n.3799A>C
13g.51939170T=CA2091556930ATP7Bc.*1230A= (n.*1230A=)
c.*2324A= (n.*2324A=)
c.2959A= (p.Ile987=)
c.3580A= (p.Ile1194=)
c.3247A= (p.Ile1083=)
c.3328A= (p.Ile1110=)
n.821A=
c.3346A= (p.Ile1116=)
n.3719A=
n.446A=
c.2515A= (p.Ile839=)
c.2290A= (p.Ile764=)
c.3385A= (p.Ile1129=)
c.1358A=
c.*681A= (n.*681A=)
n.4324A=
n.2925A=
c.3436A= (p.Ile1146=)
c.3484A= (p.Ile1162=)
c.3544A= (p.Ile1182=)
c.3094A= (p.Ile1032=)
c.1396A= (p.Ile466=)
c.1213A= (p.Ile405=)
c.3445A= (p.Ile1149=)
c.3397A= (p.Ile1133=)
c.3166A= (p.Ile1056=)
c.3067A= (p.Ile1023=)
c.2248A= (p.Ile750=)
n.3799A=
13g.51939171T>ACA483893823ATP7Bc.*1229A>T (n.*1229A>T)
c.*2323A>T (n.*2323A>T)
c.2958A>T (p.Ala986=)
c.3579A>T (p.Ala1193=)
c.3246A>T (p.Ala1082=)
c.3327A>T (p.Ala1109=)
n.820A>T
c.3345A>T (p.Ala1115=)
n.3718A>T
n.445A>T
c.2514A>T (p.Ala838=)
c.2289A>T (p.Ala763=)
c.3384A>T (p.Ala1128=)
c.1357A>T
c.*680A>T (n.*680A>T)
n.4323A>T
n.2924A>T
c.3435A>T (p.Ala1145=)
c.3483A>T (p.Ala1161=)
c.3543A>T (p.Ala1181=)
c.3093A>T (p.Ala1031=)
c.1395A>T (p.Ala465=)
c.1212A>T (p.Ala404=)
c.3444A>T (p.Ala1148=)
c.3396A>T (p.Ala1132=)
c.3165A>T (p.Ala1055=)
c.3066A>T (p.Ala1022=)
c.2247A>T (p.Ala749=)
n.3798A>T
 dbSNP
13g.51939171T>CCA483893824ATP7Bc.*1229A>G (n.*1229A>G)
c.*2323A>G (n.*2323A>G)
c.2958A>G (p.Ala986=)
c.3579A>G (p.Ala1193=)
c.3246A>G (p.Ala1082=)
c.3327A>G (p.Ala1109=)
n.820A>G
c.3345A>G (p.Ala1115=)
n.3718A>G
n.445A>G
c.2514A>G (p.Ala838=)
c.2289A>G (p.Ala763=)
c.3384A>G (p.Ala1128=)
c.1357A>G
c.*680A>G (n.*680A>G)
n.4323A>G
n.2924A>G
c.3435A>G (p.Ala1145=)
c.3483A>G (p.Ala1161=)
c.3543A>G (p.Ala1181=)
c.3093A>G (p.Ala1031=)
c.1395A>G (p.Ala465=)
c.1212A>G (p.Ala404=)
c.3444A>G (p.Ala1148=)
c.3396A>G (p.Ala1132=)
c.3165A>G (p.Ala1055=)
c.3066A>G (p.Ala1022=)
c.2247A>G (p.Ala749=)
n.3798A>G
13g.51939171T>GCA483893825ATP7Bc.*1229A>C (n.*1229A>C)
c.*2323A>C (n.*2323A>C)
c.2958A>C (p.Ala986=)
c.3579A>C (p.Ala1193=)
c.3246A>C (p.Ala1082=)
c.3327A>C (p.Ala1109=)
n.820A>C
c.3345A>C (p.Ala1115=)
n.3718A>C
n.445A>C
c.2514A>C (p.Ala838=)
c.2289A>C (p.Ala763=)
c.3384A>C (p.Ala1128=)
c.1357A>C
c.*680A>C (n.*680A>C)
n.4323A>C
n.2924A>C
c.3435A>C (p.Ala1145=)
c.3483A>C (p.Ala1161=)
c.3543A>C (p.Ala1181=)
c.3093A>C (p.Ala1031=)
c.1395A>C (p.Ala465=)
c.1212A>C (p.Ala404=)
c.3444A>C (p.Ala1148=)
c.3396A>C (p.Ala1132=)
c.3165A>C (p.Ala1055=)
c.3066A>C (p.Ala1022=)
c.2247A>C (p.Ala749=)
n.3798A>C
13g.51939172delCA2695218778ATP7Bc.*1228del (n.*1228del)
c.*2322del (n.*2322del)
c.2957del (p.Ala986GlufsTer26)
c.3578del (p.Ala1193GlufsTer26)
c.3245del (p.Ala1082GlufsTer26)
c.3326del (p.Ala1109GlufsTer26)
n.819del
c.3344del (p.Ala1115GlufsTer26)
n.3717del
n.444del
c.2513del (p.Ala838GlufsTer26)
c.2288del (p.Ala763GlufsTer26)
c.3383del (p.Ala1128GlufsTer26)
c.1356del
c.*679del (n.*679del)
n.4322del
n.2923del
c.3434del (p.Ala1145GlufsTer26)
c.3482del (p.Ala1161GlufsTer26)
c.3542del (p.Ala1181GlufsTer26)
c.3092del (p.Ala1031GlufsTer26)
c.1394del (p.Ala465GlufsTer26)
c.1211del (p.Ala404GlufsTer26)
c.3443del (p.Ala1148GlufsTer26)
c.3395del (p.Ala1132GlufsTer26)
c.3164del (p.Ala1055GlufsTer26)
c.3065del (p.Ala1022GlufsTer26)
c.2246del (p.Ala749GlufsTer26)
n.3797del
13g.51939172G>ACA388024614ATP7Bc.*1228C>T (n.*1228C>T)
c.*2322C>T (n.*2322C>T)
c.2957C>T (p.Ala986Val)
c.3578C>T (p.Ala1193Val)
c.3245C>T (p.Ala1082Val)
c.3326C>T (p.Ala1109Val)
n.819C>T
c.3344C>T (p.Ala1115Val)
n.3717C>T
n.444C>T
c.2513C>T (p.Ala838Val)
c.2288C>T (p.Ala763Val)
c.3383C>T (p.Ala1128Val)
c.1356C>T
c.*679C>T (n.*679C>T)
n.4322C>T
n.2923C>T
c.3434C>T (p.Ala1145Val)
c.3482C>T (p.Ala1161Val)
c.3542C>T (p.Ala1181Val)
c.3092C>T (p.Ala1031Val)
c.1394C>T (p.Ala465Val)
c.1211C>T (p.Ala404Val)
c.3443C>T (p.Ala1148Val)
c.3395C>T (p.Ala1132Val)
c.3164C>T (p.Ala1055Val)
c.3065C>T (p.Ala1022Val)
c.2246C>T (p.Ala749Val)
n.3797C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51939172G>CCA388024622ATP7Bc.*1228C>G (n.*1228C>G)
c.*2322C>G (n.*2322C>G)
c.2957C>G (p.Ala986Gly)
c.3578C>G (p.Ala1193Gly)
c.3245C>G (p.Ala1082Gly)
c.3326C>G (p.Ala1109Gly)
n.819C>G
c.3344C>G (p.Ala1115Gly)
n.3717C>G
n.444C>G
c.2513C>G (p.Ala838Gly)
c.2288C>G (p.Ala763Gly)
c.3383C>G (p.Ala1128Gly)
c.1356C>G
c.*679C>G (n.*679C>G)
n.4322C>G
n.2923C>G
c.3434C>G (p.Ala1145Gly)
c.3482C>G (p.Ala1161Gly)
c.3542C>G (p.Ala1181Gly)
c.3092C>G (p.Ala1031Gly)
c.1394C>G (p.Ala465Gly)
c.1211C>G (p.Ala404Gly)
c.3443C>G (p.Ala1148Gly)
c.3395C>G (p.Ala1132Gly)
c.3164C>G (p.Ala1055Gly)
c.3065C>G (p.Ala1022Gly)
c.2246C>G (p.Ala749Gly)
n.3797C>G
13g.51939172G=CA2091556935ATP7Bc.*1228C= (n.*1228C=)
c.*2322C= (n.*2322C=)
c.2957C= (p.Ala986=)
c.3578C= (p.Ala1193=)
c.3245C= (p.Ala1082=)
c.3326C= (p.Ala1109=)
n.819C=
c.3344C= (p.Ala1115=)
n.3717C=
n.444C=
c.2513C= (p.Ala838=)
c.2288C= (p.Ala763=)
c.3383C= (p.Ala1128=)
c.1356C=
c.*679C= (n.*679C=)
n.4322C=
n.2923C=
c.3434C= (p.Ala1145=)
c.3482C= (p.Ala1161=)
c.3542C= (p.Ala1181=)
c.3092C= (p.Ala1031=)
c.1394C= (p.Ala465=)
c.1211C= (p.Ala404=)
c.3443C= (p.Ala1148=)
c.3395C= (p.Ala1132=)
c.3164C= (p.Ala1055=)
c.3065C= (p.Ala1022=)
c.2246C= (p.Ala749=)
n.3797C=
13g.51939172G>TCA388024624ATP7Bc.*1228C>A (n.*1228C>A)
c.*2322C>A (n.*2322C>A)
c.2957C>A (p.Ala986Glu)
c.3578C>A (p.Ala1193Glu)
c.3245C>A (p.Ala1082Glu)
c.3326C>A (p.Ala1109Glu)
n.819C>A
c.3344C>A (p.Ala1115Glu)
n.3717C>A
n.444C>A
c.2513C>A (p.Ala838Glu)
c.2288C>A (p.Ala763Glu)
c.3383C>A (p.Ala1128Glu)
c.1356C>A
c.*679C>A (n.*679C>A)
n.4322C>A
n.2923C>A
c.3434C>A (p.Ala1145Glu)
c.3482C>A (p.Ala1161Glu)
c.3542C>A (p.Ala1181Glu)
c.3092C>A (p.Ala1031Glu)
c.1394C>A (p.Ala465Glu)
c.1211C>A (p.Ala404Glu)
c.3443C>A (p.Ala1148Glu)
c.3395C>A (p.Ala1132Glu)
c.3164C>A (p.Ala1055Glu)
c.3065C>A (p.Ala1022Glu)
c.2246C>A (p.Ala749Glu)
n.3797C>A
13g.51939173C>ACA388024629ATP7Bc.*1227G>T (n.*1227G>T)
c.*2321G>T (n.*2321G>T)
c.2956G>T (p.Ala986Ser)
c.3577G>T (p.Ala1193Ser)
c.3244G>T (p.Ala1082Ser)
c.3325G>T (p.Ala1109Ser)
n.818G>T
c.3343G>T (p.Ala1115Ser)
n.3716G>T
n.443G>T
c.2512G>T (p.Ala838Ser)
c.2287G>T (p.Ala763Ser)
c.3382G>T (p.Ala1128Ser)
c.1355G>T
c.*678G>T (n.*678G>T)
n.4321G>T
n.2922G>T
c.3433G>T (p.Ala1145Ser)
c.3481G>T (p.Ala1161Ser)
c.3541G>T (p.Ala1181Ser)
c.3091G>T (p.Ala1031Ser)
c.1393G>T (p.Ala465Ser)
c.1210G>T (p.Ala404Ser)
c.3442G>T (p.Ala1148Ser)
c.3394G>T (p.Ala1132Ser)
c.3163G>T (p.Ala1055Ser)
c.3064G>T (p.Ala1022Ser)
c.2245G>T (p.Ala749Ser)
n.3796G>T
 gnomAD v4
13g.51939173C=CA2091556937ATP7Bc.*1227G= (n.*1227G=)
c.*2321G= (n.*2321G=)
c.2956G= (p.Ala986=)
c.3577G= (p.Ala1193=)
c.3244G= (p.Ala1082=)
c.3325G= (p.Ala1109=)
n.818G=
c.3343G= (p.Ala1115=)
n.3716G=
n.443G=
c.2512G= (p.Ala838=)
c.2287G= (p.Ala763=)
c.3382G= (p.Ala1128=)
c.1355G=
c.*678G= (n.*678G=)
n.4321G=
n.2922G=
c.3433G= (p.Ala1145=)
c.3481G= (p.Ala1161=)
c.3541G= (p.Ala1181=)
c.3091G= (p.Ala1031=)
c.1393G= (p.Ala465=)
c.1210G= (p.Ala404=)
c.3442G= (p.Ala1148=)
c.3394G= (p.Ala1132=)
c.3163G= (p.Ala1055=)
c.3064G= (p.Ala1022=)
c.2245G= (p.Ala749=)
n.3796G=
13g.51939173C>GCA6988632ATP7Bc.*1227G>C (n.*1227G>C)
c.*2321G>C (n.*2321G>C)
c.2956G>C (p.Ala986Pro)
c.3577G>C (p.Ala1193Pro)
c.3244G>C (p.Ala1082Pro)
c.3325G>C (p.Ala1109Pro)
n.818G>C
c.3343G>C (p.Ala1115Pro)
n.3716G>C
n.443G>C
c.2512G>C (p.Ala838Pro)
c.2287G>C (p.Ala763Pro)
c.3382G>C (p.Ala1128Pro)
c.1355G>C
c.*678G>C (n.*678G>C)
n.4321G>C
n.2922G>C
c.3433G>C (p.Ala1145Pro)
c.3481G>C (p.Ala1161Pro)
c.3541G>C (p.Ala1181Pro)
c.3091G>C (p.Ala1031Pro)
c.1393G>C (p.Ala465Pro)
c.1210G>C (p.Ala404Pro)
c.3442G>C (p.Ala1148Pro)
c.3394G>C (p.Ala1132Pro)
c.3163G>C (p.Ala1055Pro)
c.3064G>C (p.Ala1022Pro)
c.2245G>C (p.Ala749Pro)
n.3796G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939173C>TCA250075195ATP7Bc.*1227G>A (n.*1227G>A)
c.*2321G>A (n.*2321G>A)
c.2956G>A (p.Ala986Thr)
c.3577G>A (p.Ala1193Thr)
c.3244G>A (p.Ala1082Thr)
c.3325G>A (p.Ala1109Thr)
n.818G>A
c.3343G>A (p.Ala1115Thr)
n.3716G>A
n.443G>A
c.2512G>A (p.Ala838Thr)
c.2287G>A (p.Ala763Thr)
c.3382G>A (p.Ala1128Thr)
c.1355G>A
c.*678G>A (n.*678G>A)
n.4321G>A
n.2922G>A
c.3433G>A (p.Ala1145Thr)
c.3481G>A (p.Ala1161Thr)
c.3541G>A (p.Ala1181Thr)
c.3091G>A (p.Ala1031Thr)
c.1393G>A (p.Ala465Thr)
c.1210G>A (p.Ala404Thr)
c.3442G>A (p.Ala1148Thr)
c.3394G>A (p.Ala1132Thr)
c.3163G>A (p.Ala1055Thr)
c.3064G>A (p.Ala1022Thr)
c.2245G>A (p.Ala749Thr)
n.3796G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51939174G>ACA6988633ATP7Bc.*1226C>T (n.*1226C>T)
c.*2320C>T (n.*2320C>T)
c.2955C>T (p.Ile985=)
c.3576C>T (p.Ile1192=)
c.3243C>T (p.Ile1081=)
c.3324C>T (p.Ile1108=)
n.817C>T
c.3342C>T (p.Ile1114=)
n.3715C>T
n.442C>T
c.2511C>T (p.Ile837=)
c.2286C>T (p.Ile762=)
c.3381C>T (p.Ile1127=)
c.1354C>T
c.*677C>T (n.*677C>T)
n.4320C>T
n.2921C>T
c.3432C>T (p.Ile1144=)
c.3480C>T (p.Ile1160=)
c.3540C>T (p.Ile1180=)
c.3090C>T (p.Ile1030=)
c.1392C>T (p.Ile464=)
c.1209C>T (p.Ile403=)
c.3441C>T (p.Ile1147=)
c.3393C>T (p.Ile1131=)
c.3162C>T (p.Ile1054=)
c.3063C>T (p.Ile1021=)
c.2244C>T (p.Ile748=)
n.3795C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51939174G>CCA388024639ATP7Bc.*1226C>G (n.*1226C>G)
c.*2320C>G (n.*2320C>G)
c.2955C>G (p.Ile985Met)
c.3576C>G (p.Ile1192Met)
c.3243C>G (p.Ile1081Met)
c.3324C>G (p.Ile1108Met)
n.817C>G
c.3342C>G (p.Ile1114Met)
n.3715C>G
n.442C>G
c.2511C>G (p.Ile837Met)
c.2286C>G (p.Ile762Met)
c.3381C>G (p.Ile1127Met)
c.1354C>G
c.*677C>G (n.*677C>G)
n.4320C>G
n.2921C>G
c.3432C>G (p.Ile1144Met)
c.3480C>G (p.Ile1160Met)
c.3540C>G (p.Ile1180Met)
c.3090C>G (p.Ile1030Met)
c.1392C>G (p.Ile464Met)
c.1209C>G (p.Ile403Met)
c.3441C>G (p.Ile1147Met)
c.3393C>G (p.Ile1131Met)
c.3162C>G (p.Ile1054Met)
c.3063C>G (p.Ile1021Met)
c.2244C>G (p.Ile748Met)
n.3795C>G
 gnomAD v4
13g.51939174G=CA2091556942ATP7Bc.*1226C= (n.*1226C=)
c.*2320C= (n.*2320C=)
c.2955C= (p.Ile985=)
c.3576C= (p.Ile1192=)
c.3243C= (p.Ile1081=)
c.3324C= (p.Ile1108=)
n.817C=
c.3342C= (p.Ile1114=)
n.3715C=
n.442C=
c.2511C= (p.Ile837=)
c.2286C= (p.Ile762=)
c.3381C= (p.Ile1127=)
c.1354C=
c.*677C= (n.*677C=)
n.4320C=
n.2921C=
c.3432C= (p.Ile1144=)
c.3480C= (p.Ile1160=)
c.3540C= (p.Ile1180=)
c.3090C= (p.Ile1030=)
c.1392C= (p.Ile464=)
c.1209C= (p.Ile403=)
c.3441C= (p.Ile1147=)
c.3393C= (p.Ile1131=)
c.3162C= (p.Ile1054=)
c.3063C= (p.Ile1021=)
c.2244C= (p.Ile748=)
n.3795C=
13g.51939174G>TCA483893827ATP7Bc.*1226C>A (n.*1226C>A)
c.*2320C>A (n.*2320C>A)
c.2955C>A (p.Ile985=)
c.3576C>A (p.Ile1192=)
c.3243C>A (p.Ile1081=)
c.3324C>A (p.Ile1108=)
n.817C>A
c.3342C>A (p.Ile1114=)
n.3715C>A
n.442C>A
c.2511C>A (p.Ile837=)
c.2286C>A (p.Ile762=)
c.3381C>A (p.Ile1127=)
c.1354C>A
c.*677C>A (n.*677C>A)
n.4320C>A
n.2921C>A
c.3432C>A (p.Ile1144=)
c.3480C>A (p.Ile1160=)
c.3540C>A (p.Ile1180=)
c.3090C>A (p.Ile1030=)
c.1392C>A (p.Ile464=)
c.1209C>A (p.Ile403=)
c.3441C>A (p.Ile1147=)
c.3393C>A (p.Ile1131=)
c.3162C>A (p.Ile1054=)
c.3063C>A (p.Ile1021=)
c.2244C>A (p.Ile748=)
n.3795C>A
 dbSNP
13g.51939175A>CCA388024643ATP7Bc.*1225T>G (n.*1225T>G)
c.*2319T>G (n.*2319T>G)
c.2954T>G (p.Ile985Ser)
c.3575T>G (p.Ile1192Ser)
c.3242T>G (p.Ile1081Ser)
c.3323T>G (p.Ile1108Ser)
n.816T>G
c.3341T>G (p.Ile1114Ser)
n.3714T>G
n.441T>G
c.2510T>G (p.Ile837Ser)
c.2285T>G (p.Ile762Ser)
c.3380T>G (p.Ile1127Ser)
c.1353T>G
c.*676T>G (n.*676T>G)
n.4319T>G
n.2920T>G
c.3431T>G (p.Ile1144Ser)
c.3479T>G (p.Ile1160Ser)
c.3539T>G (p.Ile1180Ser)
c.3089T>G (p.Ile1030Ser)
c.1391T>G (p.Ile464Ser)
c.1208T>G (p.Ile403Ser)
c.3440T>G (p.Ile1147Ser)
c.3392T>G (p.Ile1131Ser)
c.3161T>G (p.Ile1054Ser)
c.3062T>G (p.Ile1021Ser)
c.2243T>G (p.Ile748Ser)
n.3794T>G
13g.51939175A>GCA388024647ATP7Bc.*1225T>C (n.*1225T>C)
c.*2319T>C (n.*2319T>C)
c.2954T>C (p.Ile985Thr)
c.3575T>C (p.Ile1192Thr)
c.3242T>C (p.Ile1081Thr)
c.3323T>C (p.Ile1108Thr)
n.816T>C
c.3341T>C (p.Ile1114Thr)
n.3714T>C
n.441T>C
c.2510T>C (p.Ile837Thr)
c.2285T>C (p.Ile762Thr)
c.3380T>C (p.Ile1127Thr)
c.1353T>C
c.*676T>C (n.*676T>C)
n.4319T>C
n.2920T>C
c.3431T>C (p.Ile1144Thr)
c.3479T>C (p.Ile1160Thr)
c.3539T>C (p.Ile1180Thr)
c.3089T>C (p.Ile1030Thr)
c.1391T>C (p.Ile464Thr)
c.1208T>C (p.Ile403Thr)
c.3440T>C (p.Ile1147Thr)
c.3392T>C (p.Ile1131Thr)
c.3161T>C (p.Ile1054Thr)
c.3062T>C (p.Ile1021Thr)
c.2243T>C (p.Ile748Thr)
n.3794T>C
 ClinVar
13g.51939175A>TCA388024660ATP7Bc.*1225T>A (n.*1225T>A)
c.*2319T>A (n.*2319T>A)
c.2954T>A (p.Ile985Asn)
c.3575T>A (p.Ile1192Asn)
c.3242T>A (p.Ile1081Asn)
c.3323T>A (p.Ile1108Asn)
n.816T>A
c.3341T>A (p.Ile1114Asn)
n.3714T>A
n.441T>A
c.2510T>A (p.Ile837Asn)
c.2285T>A (p.Ile762Asn)
c.3380T>A (p.Ile1127Asn)
c.1353T>A
c.*676T>A (n.*676T>A)
n.4319T>A
n.2920T>A
c.3431T>A (p.Ile1144Asn)
c.3479T>A (p.Ile1160Asn)
c.3539T>A (p.Ile1180Asn)
c.3089T>A (p.Ile1030Asn)
c.1391T>A (p.Ile464Asn)
c.1208T>A (p.Ile403Asn)
c.3440T>A (p.Ile1147Asn)
c.3392T>A (p.Ile1131Asn)
c.3161T>A (p.Ile1054Asn)
c.3062T>A (p.Ile1021Asn)
c.2243T>A (p.Ile748Asn)
n.3794T>A
13g.51939176T>ACA6988634ATP7Bc.*1224A>T (n.*1224A>T)
c.*2318A>T (n.*2318A>T)
c.2953A>T (p.Ile985Phe)
c.3574A>T (p.Ile1192Phe)
c.3241A>T (p.Ile1081Phe)
c.3322A>T (p.Ile1108Phe)
n.815A>T
c.3340A>T (p.Ile1114Phe)
n.3713A>T
n.440A>T
c.2509A>T (p.Ile837Phe)
c.2284A>T (p.Ile762Phe)
c.3379A>T (p.Ile1127Phe)
c.1352A>T
c.*675A>T (n.*675A>T)
n.4318A>T
n.2919A>T
c.3430A>T (p.Ile1144Phe)
c.3478A>T (p.Ile1160Phe)
c.3538A>T (p.Ile1180Phe)
c.3088A>T (p.Ile1030Phe)
c.1390A>T (p.Ile464Phe)
c.1207A>T (p.Ile403Phe)
c.3439A>T (p.Ile1147Phe)
c.3391A>T (p.Ile1131Phe)
c.3160A>T (p.Ile1054Phe)
c.3061A>T (p.Ile1021Phe)
c.2242A>T (p.Ile748Phe)
n.3793A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939176T>CCA388024663ATP7Bc.*1224A>G (n.*1224A>G)
c.*2318A>G (n.*2318A>G)
c.2953A>G (p.Ile985Val)
c.3574A>G (p.Ile1192Val)
c.3241A>G (p.Ile1081Val)
c.3322A>G (p.Ile1108Val)
n.815A>G
c.3340A>G (p.Ile1114Val)
n.3713A>G
n.440A>G
c.2509A>G (p.Ile837Val)
c.2284A>G (p.Ile762Val)
c.3379A>G (p.Ile1127Val)
c.1352A>G
c.*675A>G (n.*675A>G)
n.4318A>G
n.2919A>G
c.3430A>G (p.Ile1144Val)
c.3478A>G (p.Ile1160Val)
c.3538A>G (p.Ile1180Val)
c.3088A>G (p.Ile1030Val)
c.1390A>G (p.Ile464Val)
c.1207A>G (p.Ile403Val)
c.3439A>G (p.Ile1147Val)
c.3391A>G (p.Ile1131Val)
c.3160A>G (p.Ile1054Val)
c.3061A>G (p.Ile1021Val)
c.2242A>G (p.Ile748Val)
n.3793A>G
13g.51939176T>GCA388024669ATP7Bc.*1224A>C (n.*1224A>C)
c.*2318A>C (n.*2318A>C)
c.2953A>C (p.Ile985Leu)
c.3574A>C (p.Ile1192Leu)
c.3241A>C (p.Ile1081Leu)
c.3322A>C (p.Ile1108Leu)
n.815A>C
c.3340A>C (p.Ile1114Leu)
n.3713A>C
n.440A>C
c.2509A>C (p.Ile837Leu)
c.2284A>C (p.Ile762Leu)
c.3379A>C (p.Ile1127Leu)
c.1352A>C
c.*675A>C (n.*675A>C)
n.4318A>C
n.2919A>C
c.3430A>C (p.Ile1144Leu)
c.3478A>C (p.Ile1160Leu)
c.3538A>C (p.Ile1180Leu)
c.3088A>C (p.Ile1030Leu)
c.1390A>C (p.Ile464Leu)
c.1207A>C (p.Ile403Leu)
c.3439A>C (p.Ile1147Leu)
c.3391A>C (p.Ile1131Leu)
c.3160A>C (p.Ile1054Leu)
c.3061A>C (p.Ile1021Leu)
c.2242A>C (p.Ile748Leu)
n.3793A>C
 gnomAD v4
13g.51939176T=CA2091556946ATP7Bc.*1224A= (n.*1224A=)
c.*2318A= (n.*2318A=)
c.2953A= (p.Ile985=)
c.3574A= (p.Ile1192=)
c.3241A= (p.Ile1081=)
c.3322A= (p.Ile1108=)
n.815A=
c.3340A= (p.Ile1114=)
n.3713A=
n.440A=
c.2509A= (p.Ile837=)
c.2284A= (p.Ile762=)
c.3379A= (p.Ile1127=)
c.1352A=
c.*675A= (n.*675A=)
n.4318A=
n.2919A=
c.3430A= (p.Ile1144=)
c.3478A= (p.Ile1160=)
c.3538A= (p.Ile1180=)
c.3088A= (p.Ile1030=)
c.1390A= (p.Ile464=)
c.1207A= (p.Ile403=)
c.3439A= (p.Ile1147=)
c.3391A= (p.Ile1131=)
c.3160A= (p.Ile1054=)
c.3061A= (p.Ile1021=)
c.2242A= (p.Ile748=)
n.3793A=
13g.51939177C>ACA388024678ATP7Bc.*1223G>T (n.*1223G>T)
c.*2317G>T (n.*2317G>T)
c.2952G>T (p.Met984Ile)
c.3573G>T (p.Met1191Ile)
c.3240G>T (p.Met1080Ile)
c.3321G>T (p.Met1107Ile)
n.814G>T
c.3339G>T (p.Met1113Ile)
n.3712G>T
n.439G>T
c.2508G>T (p.Met836Ile)
c.2283G>T (p.Met761Ile)
c.3378G>T (p.Met1126Ile)
c.1351G>T
c.*674G>T (n.*674G>T)
n.4317G>T
n.2918G>T
c.3429G>T (p.Met1143Ile)
c.3477G>T (p.Met1159Ile)
c.3537G>T (p.Met1179Ile)
c.3087G>T (p.Met1029Ile)
c.1389G>T (p.Met463Ile)
c.1206G>T (p.Met402Ile)
c.3438G>T (p.Met1146Ile)
c.3390G>T (p.Met1130Ile)
c.3159G>T (p.Met1053Ile)
c.3060G>T (p.Met1020Ile)
c.2241G>T (p.Met747Ile)
n.3792G>T
13g.51939177C>GCA388024684ATP7Bc.*1223G>C (n.*1223G>C)
c.*2317G>C (n.*2317G>C)
c.2952G>C (p.Met984Ile)
c.3573G>C (p.Met1191Ile)
c.3240G>C (p.Met1080Ile)
c.3321G>C (p.Met1107Ile)
n.814G>C
c.3339G>C (p.Met1113Ile)
n.3712G>C
n.439G>C
c.2508G>C (p.Met836Ile)
c.2283G>C (p.Met761Ile)
c.3378G>C (p.Met1126Ile)
c.1351G>C
c.*674G>C (n.*674G>C)
n.4317G>C
n.2918G>C
c.3429G>C (p.Met1143Ile)
c.3477G>C (p.Met1159Ile)
c.3537G>C (p.Met1179Ile)
c.3087G>C (p.Met1029Ile)
c.1389G>C (p.Met463Ile)
c.1206G>C (p.Met402Ile)
c.3438G>C (p.Met1146Ile)
c.3390G>C (p.Met1130Ile)
c.3159G>C (p.Met1053Ile)
c.3060G>C (p.Met1020Ile)
c.2241G>C (p.Met747Ile)
n.3792G>C
13g.51939177C>TCA388024685ATP7Bc.*1223G>A (n.*1223G>A)
c.*2317G>A (n.*2317G>A)
c.2952G>A (p.Met984Ile)
c.3573G>A (p.Met1191Ile)
c.3240G>A (p.Met1080Ile)
c.3321G>A (p.Met1107Ile)
n.814G>A
c.3339G>A (p.Met1113Ile)
n.3712G>A
n.439G>A
c.2508G>A (p.Met836Ile)
c.2283G>A (p.Met761Ile)
c.3378G>A (p.Met1126Ile)
c.1351G>A
c.*674G>A (n.*674G>A)
n.4317G>A
n.2918G>A
c.3429G>A (p.Met1143Ile)
c.3477G>A (p.Met1159Ile)
c.3537G>A (p.Met1179Ile)
c.3087G>A (p.Met1029Ile)
c.1389G>A (p.Met463Ile)
c.1206G>A (p.Met402Ile)
c.3438G>A (p.Met1146Ile)
c.3390G>A (p.Met1130Ile)
c.3159G>A (p.Met1053Ile)
c.3060G>A (p.Met1020Ile)
c.2241G>A (p.Met747Ile)
n.3792G>A
13g.51939178A>CCA388024686ATP7Bc.*1222T>G (n.*1222T>G)
c.*2316T>G (n.*2316T>G)
c.2951T>G (p.Met984Arg)
c.3572T>G (p.Met1191Arg)
c.3239T>G (p.Met1080Arg)
c.3320T>G (p.Met1107Arg)
n.813T>G
c.3338T>G (p.Met1113Arg)
n.3711T>G
n.438T>G
c.2507T>G (p.Met836Arg)
c.2282T>G (p.Met761Arg)
c.3377T>G (p.Met1126Arg)
c.1350T>G
c.*673T>G (n.*673T>G)
n.4316T>G
n.2917T>G
c.3428T>G (p.Met1143Arg)
c.3476T>G (p.Met1159Arg)
c.3536T>G (p.Met1179Arg)
c.3086T>G (p.Met1029Arg)
c.1388T>G (p.Met463Arg)
c.1205T>G (p.Met402Arg)
c.3437T>G (p.Met1146Arg)
c.3389T>G (p.Met1130Arg)
c.3158T>G (p.Met1053Arg)
c.3059T>G (p.Met1020Arg)
c.2240T>G (p.Met747Arg)
n.3791T>G
13g.51939178A>GCA388024687ATP7Bc.*1222T>C (n.*1222T>C)
c.*2316T>C (n.*2316T>C)
c.2951T>C (p.Met984Thr)
c.3572T>C (p.Met1191Thr)
c.3239T>C (p.Met1080Thr)
c.3320T>C (p.Met1107Thr)
n.813T>C
c.3338T>C (p.Met1113Thr)
n.3711T>C
n.438T>C
c.2507T>C (p.Met836Thr)
c.2282T>C (p.Met761Thr)
c.3377T>C (p.Met1126Thr)
c.1350T>C
c.*673T>C (n.*673T>C)
n.4316T>C
n.2917T>C
c.3428T>C (p.Met1143Thr)
c.3476T>C (p.Met1159Thr)
c.3536T>C (p.Met1179Thr)
c.3086T>C (p.Met1029Thr)
c.1388T>C (p.Met463Thr)
c.1205T>C (p.Met402Thr)
c.3437T>C (p.Met1146Thr)
c.3389T>C (p.Met1130Thr)
c.3158T>C (p.Met1053Thr)
c.3059T>C (p.Met1020Thr)
c.2240T>C (p.Met747Thr)
n.3791T>C
13g.51939178A>TCA388024688ATP7Bc.*1222T>A (n.*1222T>A)
c.*2316T>A (n.*2316T>A)
c.2951T>A (p.Met984Lys)
c.3572T>A (p.Met1191Lys)
c.3239T>A (p.Met1080Lys)
c.3320T>A (p.Met1107Lys)
n.813T>A
c.3338T>A (p.Met1113Lys)
n.3711T>A
n.438T>A
c.2507T>A (p.Met836Lys)
c.2282T>A (p.Met761Lys)
c.3377T>A (p.Met1126Lys)
c.1350T>A
c.*673T>A (n.*673T>A)
n.4316T>A
n.2917T>A
c.3428T>A (p.Met1143Lys)
c.3476T>A (p.Met1159Lys)
c.3536T>A (p.Met1179Lys)
c.3086T>A (p.Met1029Lys)
c.1388T>A (p.Met463Lys)
c.1205T>A (p.Met402Lys)
c.3437T>A (p.Met1146Lys)
c.3389T>A (p.Met1130Lys)
c.3158T>A (p.Met1053Lys)
c.3059T>A (p.Met1020Lys)
c.2240T>A (p.Met747Lys)
n.3791T>A
13g.51939179T>ACA388024708ATP7Bc.*1221A>T (n.*1221A>T)
c.*2315A>T (n.*2315A>T)
c.2950A>T (p.Met984Leu)
c.3571A>T (p.Met1191Leu)
c.3238A>T (p.Met1080Leu)
c.3319A>T (p.Met1107Leu)
n.812A>T
c.3337A>T (p.Met1113Leu)
n.3710A>T
n.437A>T
c.2506A>T (p.Met836Leu)
c.2281A>T (p.Met761Leu)
c.3376A>T (p.Met1126Leu)
c.1349A>T
c.*672A>T (n.*672A>T)
n.4315A>T
n.2916A>T
c.3427A>T (p.Met1143Leu)
c.3475A>T (p.Met1159Leu)
c.3535A>T (p.Met1179Leu)
c.3085A>T (p.Met1029Leu)
c.1387A>T (p.Met463Leu)
c.1204A>T (p.Met402Leu)
c.3436A>T (p.Met1146Leu)
c.3388A>T (p.Met1130Leu)
c.3157A>T (p.Met1053Leu)
c.3058A>T (p.Met1020Leu)
c.2239A>T (p.Met747Leu)
n.3790A>T
13g.51939179T>CCA388024703ATP7Bc.*1221A>G (n.*1221A>G)
c.*2315A>G (n.*2315A>G)
c.2950A>G (p.Met984Val)
c.3571A>G (p.Met1191Val)
c.3238A>G (p.Met1080Val)
c.3319A>G (p.Met1107Val)
n.812A>G
c.3337A>G (p.Met1113Val)
n.3710A>G
n.437A>G
c.2506A>G (p.Met836Val)
c.2281A>G (p.Met761Val)
c.3376A>G (p.Met1126Val)
c.1349A>G
c.*672A>G (n.*672A>G)
n.4315A>G
n.2916A>G
c.3427A>G (p.Met1143Val)
c.3475A>G (p.Met1159Val)
c.3535A>G (p.Met1179Val)
c.3085A>G (p.Met1029Val)
c.1387A>G (p.Met463Val)
c.1204A>G (p.Met402Val)
c.3436A>G (p.Met1146Val)
c.3388A>G (p.Met1130Val)
c.3157A>G (p.Met1053Val)
c.3058A>G (p.Met1020Val)
c.2239A>G (p.Met747Val)
n.3790A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51939179T>GCA388024698ATP7Bc.*1221A>C (n.*1221A>C)
c.*2315A>C (n.*2315A>C)
c.2950A>C (p.Met984Leu)
c.3571A>C (p.Met1191Leu)
c.3238A>C (p.Met1080Leu)
c.3319A>C (p.Met1107Leu)
n.812A>C
c.3337A>C (p.Met1113Leu)
n.3710A>C
n.437A>C
c.2506A>C (p.Met836Leu)
c.2281A>C (p.Met761Leu)
c.3376A>C (p.Met1126Leu)
c.1349A>C
c.*672A>C (n.*672A>C)
n.4315A>C
n.2916A>C
c.3427A>C (p.Met1143Leu)
c.3475A>C (p.Met1159Leu)
c.3535A>C (p.Met1179Leu)
c.3085A>C (p.Met1029Leu)
c.1387A>C (p.Met463Leu)
c.1204A>C (p.Met402Leu)
c.3436A>C (p.Met1146Leu)
c.3388A>C (p.Met1130Leu)
c.3157A>C (p.Met1053Leu)
c.3058A>C (p.Met1020Leu)
c.2239A>C (p.Met747Leu)
n.3790A>C
13g.51939179T=CA2091556950ATP7Bc.*1221A= (n.*1221A=)
c.*2315A= (n.*2315A=)
c.2950A= (p.Met984=)
c.3571A= (p.Met1191=)
c.3238A= (p.Met1080=)
c.3319A= (p.Met1107=)
n.812A=
c.3337A= (p.Met1113=)
n.3710A=
n.437A=
c.2506A= (p.Met836=)
c.2281A= (p.Met761=)
c.3376A= (p.Met1126=)
c.1349A=
c.*672A= (n.*672A=)
n.4315A=
n.2916A=
c.3427A= (p.Met1143=)
c.3475A= (p.Met1159=)
c.3535A= (p.Met1179=)
c.3085A= (p.Met1029=)
c.1387A= (p.Met463=)
c.1204A= (p.Met402=)
c.3436A= (p.Met1146=)
c.3388A= (p.Met1130=)
c.3157A= (p.Met1053=)
c.3058A= (p.Met1020=)
c.2239A= (p.Met747=)
n.3790A=
13g.51939180C>ACA483893832ATP7Bc.*1220G>T (n.*1220G>T)
c.*2314G>T (n.*2314G>T)
c.2949G>T (p.Gly983=)
c.3570G>T (p.Gly1190=)
c.3237G>T (p.Gly1079=)
c.3318G>T (p.Gly1106=)
n.811G>T
c.3336G>T (p.Gly1112=)
n.3709G>T
n.436G>T
c.2505G>T (p.Gly835=)
c.2280G>T (p.Gly760=)
c.3375G>T (p.Gly1125=)
c.1348G>T
c.*671G>T (n.*671G>T)
n.4314G>T
n.2915G>T
c.3426G>T (p.Gly1142=)
c.3474G>T (p.Gly1158=)
c.3534G>T (p.Gly1178=)
c.3084G>T (p.Gly1028=)
c.1386G>T (p.Gly462=)
c.1203G>T (p.Gly401=)
c.3435G>T (p.Gly1145=)
c.3387G>T (p.Gly1129=)
c.3156G>T (p.Gly1052=)
c.3057G>T (p.Gly1019=)
c.2238G>T (p.Gly746=)
n.3789G>T
13g.51939180C=CA2091556953ATP7Bc.*1220G= (n.*1220G=)
c.*2314G= (n.*2314G=)
c.2949G= (p.Gly983=)
c.3570G= (p.Gly1190=)
c.3237G= (p.Gly1079=)
c.3318G= (p.Gly1106=)
n.811G=
c.3336G= (p.Gly1112=)
n.3709G=
n.436G=
c.2505G= (p.Gly835=)
c.2280G= (p.Gly760=)
c.3375G= (p.Gly1125=)
c.1348G=
c.*671G= (n.*671G=)
n.4314G=
n.2915G=
c.3426G= (p.Gly1142=)
c.3474G= (p.Gly1158=)
c.3534G= (p.Gly1178=)
c.3084G= (p.Gly1028=)
c.1386G= (p.Gly462=)
c.1203G= (p.Gly401=)
c.3435G= (p.Gly1145=)
c.3387G= (p.Gly1129=)
c.3156G= (p.Gly1052=)
c.3057G= (p.Gly1019=)
c.2238G= (p.Gly746=)
n.3789G=
13g.51939180C>GCA483893833ATP7Bc.*1220G>C (n.*1220G>C)
c.*2314G>C (n.*2314G>C)
c.2949G>C (p.Gly983=)
c.3570G>C (p.Gly1190=)
c.3237G>C (p.Gly1079=)
c.3318G>C (p.Gly1106=)
n.811G>C
c.3336G>C (p.Gly1112=)
n.3709G>C
n.436G>C
c.2505G>C (p.Gly835=)
c.2280G>C (p.Gly760=)
c.3375G>C (p.Gly1125=)
c.1348G>C
c.*671G>C (n.*671G>C)
n.4314G>C
n.2915G>C
c.3426G>C (p.Gly1142=)
c.3474G>C (p.Gly1158=)
c.3534G>C (p.Gly1178=)
c.3084G>C (p.Gly1028=)
c.1386G>C (p.Gly462=)
c.1203G>C (p.Gly401=)
c.3435G>C (p.Gly1145=)
c.3387G>C (p.Gly1129=)
c.3156G>C (p.Gly1052=)
c.3057G>C (p.Gly1019=)
c.2238G>C (p.Gly746=)
n.3789G>C
 dbSNP
13g.51939180C>TCA483893834ATP7Bc.*1220G>A (n.*1220G>A)
c.*2314G>A (n.*2314G>A)
c.2949G>A (p.Gly983=)
c.3570G>A (p.Gly1190=)
c.3237G>A (p.Gly1079=)
c.3318G>A (p.Gly1106=)
n.811G>A
c.3336G>A (p.Gly1112=)
n.3709G>A
n.436G>A
c.2505G>A (p.Gly835=)
c.2280G>A (p.Gly760=)
c.3375G>A (p.Gly1125=)
c.1348G>A
c.*671G>A (n.*671G>A)
n.4314G>A
n.2915G>A
c.3426G>A (p.Gly1142=)
c.3474G>A (p.Gly1158=)
c.3534G>A (p.Gly1178=)
c.3084G>A (p.Gly1028=)
c.1386G>A (p.Gly462=)
c.1203G>A (p.Gly401=)
c.3435G>A (p.Gly1145=)
c.3387G>A (p.Gly1129=)
c.3156G>A (p.Gly1052=)
c.3057G>A (p.Gly1019=)
c.2238G>A (p.Gly746=)
n.3789G>A
13g.51939181C>ACA6988635ATP7Bc.*1219G>T (n.*1219G>T)
c.*2313G>T (n.*2313G>T)
c.2948G>T (p.Gly983Val)
c.3569G>T (p.Gly1190Val)
c.3236G>T (p.Gly1079Val)
c.3317G>T (p.Gly1106Val)
n.810G>T
c.3335G>T (p.Gly1112Val)
n.3708G>T
n.435G>T
c.2504G>T (p.Gly835Val)
c.2279G>T (p.Gly760Val)
c.3374G>T (p.Gly1125Val)
c.1347G>T
c.*670G>T (n.*670G>T)
n.4313G>T
n.2914G>T
c.3425G>T (p.Gly1142Val)
c.3473G>T (p.Gly1158Val)
c.3533G>T (p.Gly1178Val)
c.3083G>T (p.Gly1028Val)
c.1385G>T (p.Gly462Val)
c.1202G>T (p.Gly401Val)
c.3434G>T (p.Gly1145Val)
c.3386G>T (p.Gly1129Val)
c.3155G>T (p.Gly1052Val)
c.3056G>T (p.Gly1019Val)
c.2237G>T (p.Gly746Val)
n.3788G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939181C=CA2091556957ATP7Bc.*1219G= (n.*1219G=)
c.*2313G= (n.*2313G=)
c.2948G= (p.Gly983=)
c.3569G= (p.Gly1190=)
c.3236G= (p.Gly1079=)
c.3317G= (p.Gly1106=)
n.810G=
c.3335G= (p.Gly1112=)
n.3708G=
n.435G=
c.2504G= (p.Gly835=)
c.2279G= (p.Gly760=)
c.3374G= (p.Gly1125=)
c.1347G=
c.*670G= (n.*670G=)
n.4313G=
n.2914G=
c.3425G= (p.Gly1142=)
c.3473G= (p.Gly1158=)
c.3533G= (p.Gly1178=)
c.3083G= (p.Gly1028=)
c.1385G= (p.Gly462=)
c.1202G= (p.Gly401=)
c.3434G= (p.Gly1145=)
c.3386G= (p.Gly1129=)
c.3155G= (p.Gly1052=)
c.3056G= (p.Gly1019=)
c.2237G= (p.Gly746=)
n.3788G=
13g.51939181C>GCA388024719ATP7Bc.*1219G>C (n.*1219G>C)
c.*2313G>C (n.*2313G>C)
c.2948G>C (p.Gly983Ala)
c.3569G>C (p.Gly1190Ala)
c.3236G>C (p.Gly1079Ala)
c.3317G>C (p.Gly1106Ala)
n.810G>C
c.3335G>C (p.Gly1112Ala)
n.3708G>C
n.435G>C
c.2504G>C (p.Gly835Ala)
c.2279G>C (p.Gly760Ala)
c.3374G>C (p.Gly1125Ala)
c.1347G>C
c.*670G>C (n.*670G>C)
n.4313G>C
n.2914G>C
c.3425G>C (p.Gly1142Ala)
c.3473G>C (p.Gly1158Ala)
c.3533G>C (p.Gly1178Ala)
c.3083G>C (p.Gly1028Ala)
c.1385G>C (p.Gly462Ala)
c.1202G>C (p.Gly401Ala)
c.3434G>C (p.Gly1145Ala)
c.3386G>C (p.Gly1129Ala)
c.3155G>C (p.Gly1052Ala)
c.3056G>C (p.Gly1019Ala)
c.2237G>C (p.Gly746Ala)
n.3788G>C
 ClinVar
13g.51939181C>TCA388024724ATP7Bc.*1219G>A (n.*1219G>A)
c.*2313G>A (n.*2313G>A)
c.2948G>A (p.Gly983Glu)
c.3569G>A (p.Gly1190Glu)
c.3236G>A (p.Gly1079Glu)
c.3317G>A (p.Gly1106Glu)
n.810G>A
c.3335G>A (p.Gly1112Glu)
n.3708G>A
n.435G>A
c.2504G>A (p.Gly835Glu)
c.2279G>A (p.Gly760Glu)
c.3374G>A (p.Gly1125Glu)
c.1347G>A
c.*670G>A (n.*670G>A)
n.4313G>A
n.2914G>A
c.3425G>A (p.Gly1142Glu)
c.3473G>A (p.Gly1158Glu)
c.3533G>A (p.Gly1178Glu)
c.3083G>A (p.Gly1028Glu)
c.1385G>A (p.Gly462Glu)
c.1202G>A (p.Gly401Glu)
c.3434G>A (p.Gly1145Glu)
c.3386G>A (p.Gly1129Glu)
c.3155G>A (p.Gly1052Glu)
c.3056G>A (p.Gly1019Glu)
c.2237G>A (p.Gly746Glu)
n.3788G>A
13g.51939182C>ACA388024747ATP7Bc.*1218G>T (n.*1218G>T)
c.*2312G>T (n.*2312G>T)
c.2947G>T (p.Gly983Trp)
c.3568G>T (p.Gly1190Trp)
c.3235G>T (p.Gly1079Trp)
c.3316G>T (p.Gly1106Trp)
n.809G>T
c.3334G>T (p.Gly1112Trp)
n.3707G>T
n.434G>T
c.2503G>T (p.Gly835Trp)
c.2278G>T (p.Gly760Trp)
c.3373G>T (p.Gly1125Trp)
c.1346G>T
c.*669G>T (n.*669G>T)
n.4312G>T
n.2913G>T
c.3424G>T (p.Gly1142Trp)
c.3472G>T (p.Gly1158Trp)
c.3532G>T (p.Gly1178Trp)
c.3082G>T (p.Gly1028Trp)
c.1384G>T (p.Gly462Trp)
c.1201G>T (p.Gly401Trp)
c.3433G>T (p.Gly1145Trp)
c.3385G>T (p.Gly1129Trp)
c.3154G>T (p.Gly1052Trp)
c.3055G>T (p.Gly1019Trp)
c.2236G>T (p.Gly746Trp)
n.3787G>T
13g.51939182C>GCA388024753ATP7Bc.*1218G>C (n.*1218G>C)
c.*2312G>C (n.*2312G>C)
c.2947G>C (p.Gly983Arg)
c.3568G>C (p.Gly1190Arg)
c.3235G>C (p.Gly1079Arg)
c.3316G>C (p.Gly1106Arg)
n.809G>C
c.3334G>C (p.Gly1112Arg)
n.3707G>C
n.434G>C
c.2503G>C (p.Gly835Arg)
c.2278G>C (p.Gly760Arg)
c.3373G>C (p.Gly1125Arg)
c.1346G>C
c.*669G>C (n.*669G>C)
n.4312G>C
n.2913G>C
c.3424G>C (p.Gly1142Arg)
c.3472G>C (p.Gly1158Arg)
c.3532G>C (p.Gly1178Arg)
c.3082G>C (p.Gly1028Arg)
c.1384G>C (p.Gly462Arg)
c.1201G>C (p.Gly401Arg)
c.3433G>C (p.Gly1145Arg)
c.3385G>C (p.Gly1129Arg)
c.3154G>C (p.Gly1052Arg)
c.3055G>C (p.Gly1019Arg)
c.2236G>C (p.Gly746Arg)
n.3787G>C
13g.51939182C>TCA388024756ATP7Bc.*1218G>A (n.*1218G>A)
c.*2312G>A (n.*2312G>A)
c.2947G>A (p.Gly983Arg)
c.3568G>A (p.Gly1190Arg)
c.3235G>A (p.Gly1079Arg)
c.3316G>A (p.Gly1106Arg)
n.809G>A
c.3334G>A (p.Gly1112Arg)
n.3707G>A
n.434G>A
c.2503G>A (p.Gly835Arg)
c.2278G>A (p.Gly760Arg)
c.3373G>A (p.Gly1125Arg)
c.1346G>A
c.*669G>A (n.*669G>A)
n.4312G>A
n.2913G>A
c.3424G>A (p.Gly1142Arg)
c.3472G>A (p.Gly1158Arg)
c.3532G>A (p.Gly1178Arg)
c.3082G>A (p.Gly1028Arg)
c.1384G>A (p.Gly462Arg)
c.1201G>A (p.Gly401Arg)
c.3433G>A (p.Gly1145Arg)
c.3385G>A (p.Gly1129Arg)
c.3154G>A (p.Gly1052Arg)
c.3055G>A (p.Gly1019Arg)
c.2236G>A (p.Gly746Arg)
n.3787G>A
13g.51939184_51939185delCA2695218780ATP7Bc.*1217_*1218del (n.*1217_*1218del)
c.*2311_*2312del (n.*2311_*2312del)
c.2946_2947del (p.Cys982TrpfsTer?)
c.3567_3568del (p.Cys1189TrpfsTer?)
c.3234_3235del (p.Cys1078TrpfsTer?)
c.3315_3316del (p.Cys1105TrpfsTer?)
n.808_809del
c.3333_3334del (p.Cys1111TrpfsTer?)
n.3706_3707del
n.433_434del
c.2502_2503del (p.Cys834TrpfsTer?)
c.2277_2278del (p.Cys759TrpfsTer?)
c.3372_3373del (p.Cys1124TrpfsTer?)
c.1345_1346del
c.*668_*669del (n.*668_*669del)
n.4311_4312del
n.2912_2913del
c.3423_3424del (p.Cys1141TrpfsTer?)
c.3471_3472del (p.Cys1157TrpfsTer?)
c.3531_3532del (p.Cys1177TrpfsTer?)
c.3081_3082del (p.Cys1027TrpfsTer?)
c.1383_1384del (p.Cys461TrpfsTer?)
c.1200_1201del (p.Cys400TrpfsTer?)
c.3432_3433del (p.Cys1144TrpfsTer?)
c.3384_3385del (p.Cys1128TrpfsTer?)
c.3153_3154del (p.Cys1051TrpfsTer?)
c.3054_3055del (p.Cys1018TrpfsTer?)
c.2235_2236del (p.Cys745TrpfsTer?)
n.3786_3787del
 ClinVar
13g.51939183A=CA2091556962ATP7Bc.*1217T= (n.*1217T=)
c.*2311T= (n.*2311T=)
c.2946T= (p.Cys982=)
c.3567T= (p.Cys1189=)
c.3234T= (p.Cys1078=)
c.3315T= (p.Cys1105=)
n.808T=
c.3333T= (p.Cys1111=)
n.3706T=
n.433T=
c.2502T= (p.Cys834=)
c.2277T= (p.Cys759=)
c.3372T= (p.Cys1124=)
c.1345T=
c.*668T= (n.*668T=)
n.4311T=
n.2912T=
c.3423T= (p.Cys1141=)
c.3471T= (p.Cys1157=)
c.3531T= (p.Cys1177=)
c.3081T= (p.Cys1027=)
c.1383T= (p.Cys461=)
c.1200T= (p.Cys400=)
c.3432T= (p.Cys1144=)
c.3384T= (p.Cys1128=)
c.3153T= (p.Cys1051=)
c.3054T= (p.Cys1018=)
c.2235T= (p.Cys745=)
n.3786T=
13g.51939183A>CCA388024761ATP7Bc.*1217T>G (n.*1217T>G)
c.*2311T>G (n.*2311T>G)
c.2946T>G (p.Cys982Trp)
c.3567T>G (p.Cys1189Trp)
c.3234T>G (p.Cys1078Trp)
c.3315T>G (p.Cys1105Trp)
n.808T>G
c.3333T>G (p.Cys1111Trp)
n.3706T>G
n.433T>G
c.2502T>G (p.Cys834Trp)
c.2277T>G (p.Cys759Trp)
c.3372T>G (p.Cys1124Trp)
c.1345T>G
c.*668T>G (n.*668T>G)
n.4311T>G
n.2912T>G
c.3423T>G (p.Cys1141Trp)
c.3471T>G (p.Cys1157Trp)
c.3531T>G (p.Cys1177Trp)
c.3081T>G (p.Cys1027Trp)
c.1383T>G (p.Cys461Trp)
c.1200T>G (p.Cys400Trp)
c.3432T>G (p.Cys1144Trp)
c.3384T>G (p.Cys1128Trp)
c.3153T>G (p.Cys1051Trp)
c.3054T>G (p.Cys1018Trp)
c.2235T>G (p.Cys745Trp)
n.3786T>G
13g.51939183A>GCA6988636ATP7Bc.*1217T>C (n.*1217T>C)
c.*2311T>C (n.*2311T>C)
c.2946T>C (p.Cys982=)
c.3567T>C (p.Cys1189=)
c.3234T>C (p.Cys1078=)
c.3315T>C (p.Cys1105=)
n.808T>C
c.3333T>C (p.Cys1111=)
n.3706T>C
n.433T>C
c.2502T>C (p.Cys834=)
c.2277T>C (p.Cys759=)
c.3372T>C (p.Cys1124=)
c.1345T>C
c.*668T>C (n.*668T>C)
n.4311T>C
n.2912T>C
c.3423T>C (p.Cys1141=)
c.3471T>C (p.Cys1157=)
c.3531T>C (p.Cys1177=)
c.3081T>C (p.Cys1027=)
c.1383T>C (p.Cys461=)
c.1200T>C (p.Cys400=)
c.3432T>C (p.Cys1144=)
c.3384T>C (p.Cys1128=)
c.3153T>C (p.Cys1051=)
c.3054T>C (p.Cys1018=)
c.2235T>C (p.Cys745=)
n.3786T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51939183A>TCA388024774ATP7Bc.*1217T>A (n.*1217T>A)
c.*2311T>A (n.*2311T>A)
c.2946T>A (p.Cys982Ter)
c.3567T>A (p.Cys1189Ter)
c.3234T>A (p.Cys1078Ter)
c.3315T>A (p.Cys1105Ter)
n.808T>A
c.3333T>A (p.Cys1111Ter)
n.3706T>A
n.433T>A
c.2502T>A (p.Cys834Ter)
c.2277T>A (p.Cys759Ter)
c.3372T>A (p.Cys1124Ter)
c.1345T>A
c.*668T>A (n.*668T>A)
n.4311T>A
n.2912T>A
c.3423T>A (p.Cys1141Ter)
c.3471T>A (p.Cys1157Ter)
c.3531T>A (p.Cys1177Ter)
c.3081T>A (p.Cys1027Ter)
c.1383T>A (p.Cys461Ter)
c.1200T>A (p.Cys400Ter)
c.3432T>A (p.Cys1144Ter)
c.3384T>A (p.Cys1128Ter)
c.3153T>A (p.Cys1051Ter)
c.3054T>A (p.Cys1018Ter)
c.2235T>A (p.Cys745Ter)
n.3786T>A
13g.51939184C>ACA388024782ATP7Bc.*1216G>T (n.*1216G>T)
c.*2310G>T (n.*2310G>T)
c.2945G>T (p.Cys982Phe)
c.3566G>T (p.Cys1189Phe)
c.3233G>T (p.Cys1078Phe)
c.3314G>T (p.Cys1105Phe)
n.807G>T
c.3332G>T (p.Cys1111Phe)
n.3705G>T
n.432G>T
c.2501G>T (p.Cys834Phe)
c.2276G>T (p.Cys759Phe)
c.3371G>T (p.Cys1124Phe)
c.1344G>T
c.*667G>T (n.*667G>T)
n.4310G>T
n.2911G>T
c.3422G>T (p.Cys1141Phe)
c.3470G>T (p.Cys1157Phe)
c.3530G>T (p.Cys1177Phe)
c.3080G>T (p.Cys1027Phe)
c.1382G>T (p.Cys461Phe)
c.1199G>T (p.Cys400Phe)
c.3431G>T (p.Cys1144Phe)
c.3383G>T (p.Cys1128Phe)
c.3152G>T (p.Cys1051Phe)
c.3053G>T (p.Cys1018Phe)
c.2234G>T (p.Cys745Phe)
n.3785G>T
13g.51939184C>GCA388024785ATP7Bc.*1216G>C (n.*1216G>C)
c.*2310G>C (n.*2310G>C)
c.2945G>C (p.Cys982Ser)
c.3566G>C (p.Cys1189Ser)
c.3233G>C (p.Cys1078Ser)
c.3314G>C (p.Cys1105Ser)
n.807G>C
c.3332G>C (p.Cys1111Ser)
n.3705G>C
n.432G>C
c.2501G>C (p.Cys834Ser)
c.2276G>C (p.Cys759Ser)
c.3371G>C (p.Cys1124Ser)
c.1344G>C
c.*667G>C (n.*667G>C)
n.4310G>C
n.2911G>C
c.3422G>C (p.Cys1141Ser)
c.3470G>C (p.Cys1157Ser)
c.3530G>C (p.Cys1177Ser)
c.3080G>C (p.Cys1027Ser)
c.1382G>C (p.Cys461Ser)
c.1199G>C (p.Cys400Ser)
c.3431G>C (p.Cys1144Ser)
c.3383G>C (p.Cys1128Ser)
c.3152G>C (p.Cys1051Ser)
c.3053G>C (p.Cys1018Ser)
c.2234G>C (p.Cys745Ser)
n.3785G>C
13g.51939184C>TCA388024791ATP7Bc.*1216G>A (n.*1216G>A)
c.*2310G>A (n.*2310G>A)
c.2945G>A (p.Cys982Tyr)
c.3566G>A (p.Cys1189Tyr)
c.3233G>A (p.Cys1078Tyr)
c.3314G>A (p.Cys1105Tyr)
n.807G>A
c.3332G>A (p.Cys1111Tyr)
n.3705G>A
n.432G>A
c.2501G>A (p.Cys834Tyr)
c.2276G>A (p.Cys759Tyr)
c.3371G>A (p.Cys1124Tyr)
c.1344G>A
c.*667G>A (n.*667G>A)
n.4310G>A
n.2911G>A
c.3422G>A (p.Cys1141Tyr)
c.3470G>A (p.Cys1157Tyr)
c.3530G>A (p.Cys1177Tyr)
c.3080G>A (p.Cys1027Tyr)
c.1382G>A (p.Cys461Tyr)
c.1199G>A (p.Cys400Tyr)
c.3431G>A (p.Cys1144Tyr)
c.3383G>A (p.Cys1128Tyr)
c.3152G>A (p.Cys1051Tyr)
c.3053G>A (p.Cys1018Tyr)
c.2234G>A (p.Cys745Tyr)
n.3785G>A
13g.51939185A>CCA388024814ATP7Bc.*1215T>G (n.*1215T>G)
c.*2309T>G (n.*2309T>G)
c.2944T>G (p.Cys982Gly)
c.3565T>G (p.Cys1189Gly)
c.3232T>G (p.Cys1078Gly)
c.3313T>G (p.Cys1105Gly)
n.806T>G
c.3331T>G (p.Cys1111Gly)
n.3704T>G
n.431T>G
c.2500T>G (p.Cys834Gly)
c.2275T>G (p.Cys759Gly)
c.3370T>G (p.Cys1124Gly)
c.1343T>G
c.*666T>G (n.*666T>G)
n.4309T>G
n.2910T>G
c.3421T>G (p.Cys1141Gly)
c.3469T>G (p.Cys1157Gly)
c.3529T>G (p.Cys1177Gly)
c.3079T>G (p.Cys1027Gly)
c.1381T>G (p.Cys461Gly)
c.1198T>G (p.Cys400Gly)
c.3430T>G (p.Cys1144Gly)
c.3382T>G (p.Cys1128Gly)
c.3151T>G (p.Cys1051Gly)
c.3052T>G (p.Cys1018Gly)
c.2233T>G (p.Cys745Gly)
n.3784T>G
13g.51939185A>GCA388024806ATP7Bc.*1215T>C (n.*1215T>C)
c.*2309T>C (n.*2309T>C)
c.2944T>C (p.Cys982Arg)
c.3565T>C (p.Cys1189Arg)
c.3232T>C (p.Cys1078Arg)
c.3313T>C (p.Cys1105Arg)
n.806T>C
c.3331T>C (p.Cys1111Arg)
n.3704T>C
n.431T>C
c.2500T>C (p.Cys834Arg)
c.2275T>C (p.Cys759Arg)
c.3370T>C (p.Cys1124Arg)
c.1343T>C
c.*666T>C (n.*666T>C)
n.4309T>C
n.2910T>C
c.3421T>C (p.Cys1141Arg)
c.3469T>C (p.Cys1157Arg)
c.3529T>C (p.Cys1177Arg)
c.3079T>C (p.Cys1027Arg)
c.1381T>C (p.Cys461Arg)
c.1198T>C (p.Cys400Arg)
c.3430T>C (p.Cys1144Arg)
c.3382T>C (p.Cys1128Arg)
c.3151T>C (p.Cys1051Arg)
c.3052T>C (p.Cys1018Arg)
c.2233T>C (p.Cys745Arg)
n.3784T>C
 gnomAD v4
13g.51939185A>TCA388024798ATP7Bc.*1215T>A (n.*1215T>A)
c.*2309T>A (n.*2309T>A)
c.2944T>A (p.Cys982Ser)
c.3565T>A (p.Cys1189Ser)
c.3232T>A (p.Cys1078Ser)
c.3313T>A (p.Cys1105Ser)
n.806T>A
c.3331T>A (p.Cys1111Ser)
n.3704T>A
n.431T>A
c.2500T>A (p.Cys834Ser)
c.2275T>A (p.Cys759Ser)
c.3370T>A (p.Cys1124Ser)
c.1343T>A
c.*666T>A (n.*666T>A)
n.4309T>A
n.2910T>A
c.3421T>A (p.Cys1141Ser)
c.3469T>A (p.Cys1157Ser)
c.3529T>A (p.Cys1177Ser)
c.3079T>A (p.Cys1027Ser)
c.1381T>A (p.Cys461Ser)
c.1198T>A (p.Cys400Ser)
c.3430T>A (p.Cys1144Ser)
c.3382T>A (p.Cys1128Ser)
c.3151T>A (p.Cys1051Ser)
c.3052T>A (p.Cys1018Ser)
c.2233T>A (p.Cys745Ser)
n.3784T>A
13g.51939186G>ACA250075215ATP7Bc.*1214C>T (n.*1214C>T)
c.*2308C>T (n.*2308C>T)
c.2943C>T (p.Leu981=)
c.3564C>T (p.Leu1188=)
c.3231C>T (p.Leu1077=)
c.3312C>T (p.Leu1104=)
n.805C>T
c.3330C>T (p.Leu1110=)
n.3703C>T
n.430C>T
c.2499C>T (p.Leu833=)
c.2274C>T (p.Leu758=)
c.3369C>T (p.Leu1123=)
c.1342C>T
c.*665C>T (n.*665C>T)
n.4308C>T
n.2909C>T
c.3420C>T (p.Leu1140=)
c.3468C>T (p.Leu1156=)
c.3528C>T (p.Leu1176=)
c.3078C>T (p.Leu1026=)
c.1380C>T (p.Leu460=)
c.1197C>T (p.Leu399=)
c.3429C>T (p.Leu1143=)
c.3381C>T (p.Leu1127=)
c.3150C>T (p.Leu1050=)
c.3051C>T (p.Leu1017=)
c.2232C>T (p.Leu744=)
n.3783C>T
 ClinVar dbSNP
13g.51939186G>CCA483893838ATP7Bc.*1214C>G (n.*1214C>G)
c.*2308C>G (n.*2308C>G)
c.2943C>G (p.Leu981=)
c.3564C>G (p.Leu1188=)
c.3231C>G (p.Leu1077=)
c.3312C>G (p.Leu1104=)
n.805C>G
c.3330C>G (p.Leu1110=)
n.3703C>G
n.430C>G
c.2499C>G (p.Leu833=)
c.2274C>G (p.Leu758=)
c.3369C>G (p.Leu1123=)
c.1342C>G
c.*665C>G (n.*665C>G)
n.4308C>G
n.2909C>G
c.3420C>G (p.Leu1140=)
c.3468C>G (p.Leu1156=)
c.3528C>G (p.Leu1176=)
c.3078C>G (p.Leu1026=)
c.1380C>G (p.Leu460=)
c.1197C>G (p.Leu399=)
c.3429C>G (p.Leu1143=)
c.3381C>G (p.Leu1127=)
c.3150C>G (p.Leu1050=)
c.3051C>G (p.Leu1017=)
c.2232C>G (p.Leu744=)
n.3783C>G
 gnomAD v4
13g.51939186G=CA2091556964ATP7Bc.*1214C= (n.*1214C=)
c.*2308C= (n.*2308C=)
c.2943C= (p.Leu981=)
c.3564C= (p.Leu1188=)
c.3231C= (p.Leu1077=)
c.3312C= (p.Leu1104=)
n.805C=
c.3330C= (p.Leu1110=)
n.3703C=
n.430C=
c.2499C= (p.Leu833=)
c.2274C= (p.Leu758=)
c.3369C= (p.Leu1123=)
c.1342C=
c.*665C= (n.*665C=)
n.4308C=
n.2909C=
c.3420C= (p.Leu1140=)
c.3468C= (p.Leu1156=)
c.3528C= (p.Leu1176=)
c.3078C= (p.Leu1026=)
c.1380C= (p.Leu460=)
c.1197C= (p.Leu399=)
c.3429C= (p.Leu1143=)
c.3381C= (p.Leu1127=)
c.3150C= (p.Leu1050=)
c.3051C= (p.Leu1017=)
c.2232C= (p.Leu744=)
n.3783C=
13g.51939186G>TCA483893839ATP7Bc.*1214C>A (n.*1214C>A)
c.*2308C>A (n.*2308C>A)
c.2943C>A (p.Leu981=)
c.3564C>A (p.Leu1188=)
c.3231C>A (p.Leu1077=)
c.3312C>A (p.Leu1104=)
n.805C>A
c.3330C>A (p.Leu1110=)
n.3703C>A
n.430C>A
c.2499C>A (p.Leu833=)
c.2274C>A (p.Leu758=)
c.3369C>A (p.Leu1123=)
c.1342C>A
c.*665C>A (n.*665C>A)
n.4308C>A
n.2909C>A
c.3420C>A (p.Leu1140=)
c.3468C>A (p.Leu1156=)
c.3528C>A (p.Leu1176=)
c.3078C>A (p.Leu1026=)
c.1380C>A (p.Leu460=)
c.1197C>A (p.Leu399=)
c.3429C>A (p.Leu1143=)
c.3381C>A (p.Leu1127=)
c.3150C>A (p.Leu1050=)
c.3051C>A (p.Leu1017=)
c.2232C>A (p.Leu744=)
n.3783C>A
13g.51939187A=CA2091556967ATP7Bc.*1213T= (n.*1213T=)
c.*2307T= (n.*2307T=)
c.2942T= (p.Leu981=)
c.3563T= (p.Leu1188=)
c.3230T= (p.Leu1077=)
c.3311T= (p.Leu1104=)
n.804T=
c.3329T= (p.Leu1110=)
n.3702T=
n.429T=
c.2498T= (p.Leu833=)
c.2273T= (p.Leu758=)
c.3368T= (p.Leu1123=)
c.1341T=
c.*664T= (n.*664T=)
n.4307T=
n.2908T=
c.3419T= (p.Leu1140=)
c.3467T= (p.Leu1156=)
c.3527T= (p.Leu1176=)
c.3077T= (p.Leu1026=)
c.1379T= (p.Leu460=)
c.1196T= (p.Leu399=)
c.3428T= (p.Leu1143=)
c.3380T= (p.Leu1127=)
c.3149T= (p.Leu1050=)
c.3050T= (p.Leu1017=)
c.2231T= (p.Leu744=)
n.3782T=
13g.51939187A>CCA388024825ATP7Bc.*1213T>G (n.*1213T>G)
c.*2307T>G (n.*2307T>G)
c.2942T>G (p.Leu981Arg)
c.3563T>G (p.Leu1188Arg)
c.3230T>G (p.Leu1077Arg)
c.3311T>G (p.Leu1104Arg)
n.804T>G
c.3329T>G (p.Leu1110Arg)
n.3702T>G
n.429T>G
c.2498T>G (p.Leu833Arg)
c.2273T>G (p.Leu758Arg)
c.3368T>G (p.Leu1123Arg)
c.1341T>G
c.*664T>G (n.*664T>G)
n.4307T>G
n.2908T>G
c.3419T>G (p.Leu1140Arg)
c.3467T>G (p.Leu1156Arg)
c.3527T>G (p.Leu1176Arg)
c.3077T>G (p.Leu1026Arg)
c.1379T>G (p.Leu460Arg)
c.1196T>G (p.Leu399Arg)
c.3428T>G (p.Leu1143Arg)
c.3380T>G (p.Leu1127Arg)
c.3149T>G (p.Leu1050Arg)
c.3050T>G (p.Leu1017Arg)
c.2231T>G (p.Leu744Arg)
n.3782T>G
13g.51939187A>GCA388024821ATP7Bc.*1213T>C (n.*1213T>C)
c.*2307T>C (n.*2307T>C)
c.2942T>C (p.Leu981Pro)
c.3563T>C (p.Leu1188Pro)
c.3230T>C (p.Leu1077Pro)
c.3311T>C (p.Leu1104Pro)
n.804T>C
c.3329T>C (p.Leu1110Pro)
n.3702T>C
n.429T>C
c.2498T>C (p.Leu833Pro)
c.2273T>C (p.Leu758Pro)
c.3368T>C (p.Leu1123Pro)
c.1341T>C
c.*664T>C (n.*664T>C)
n.4307T>C
n.2908T>C
c.3419T>C (p.Leu1140Pro)
c.3467T>C (p.Leu1156Pro)
c.3527T>C (p.Leu1176Pro)
c.3077T>C (p.Leu1026Pro)
c.1379T>C (p.Leu460Pro)
c.1196T>C (p.Leu399Pro)
c.3428T>C (p.Leu1143Pro)
c.3380T>C (p.Leu1127Pro)
c.3149T>C (p.Leu1050Pro)
c.3050T>C (p.Leu1017Pro)
c.2231T>C (p.Leu744Pro)
n.3782T>C
 dbSNP gnomAD v3 gnomAD v4
13g.51939187A>TCA388024827ATP7Bc.*1213T>A (n.*1213T>A)
c.*2307T>A (n.*2307T>A)
c.2942T>A (p.Leu981His)
c.3563T>A (p.Leu1188His)
c.3230T>A (p.Leu1077His)
c.3311T>A (p.Leu1104His)
n.804T>A
c.3329T>A (p.Leu1110His)
n.3702T>A
n.429T>A
c.2498T>A (p.Leu833His)
c.2273T>A (p.Leu758His)
c.3368T>A (p.Leu1123His)
c.1341T>A
c.*664T>A (n.*664T>A)
n.4307T>A
n.2908T>A
c.3419T>A (p.Leu1140His)
c.3467T>A (p.Leu1156His)
c.3527T>A (p.Leu1176His)
c.3077T>A (p.Leu1026His)
c.1379T>A (p.Leu460His)
c.1196T>A (p.Leu399His)
c.3428T>A (p.Leu1143His)
c.3380T>A (p.Leu1127His)
c.3149T>A (p.Leu1050His)
c.3050T>A (p.Leu1017His)
c.2231T>A (p.Leu744His)
n.3782T>A

Number of alleles fetched