Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937580_51937589delCA2695218758ATP7Bc.*1444_*1453del (n.*1444_*1453del)
c.*2538_*2547del (n.*2538_*2547del)
c.3173_3182del (p.Val1058GlyfsTer?)
c.3794_3803del (p.Val1265GlyfsTer?)
c.3461_3470del (p.Val1154GlyfsTer?)
c.3542_3551del (p.Val1181GlyfsTer?)
n.1035_1044del
c.3560_3569del (p.Val1187GlyfsTer?)
n.3933_3942del
n.660_669del
c.2729_2738del (p.Val910GlyfsTer?)
c.2504_2513del (p.Val835GlyfsTer?)
c.3599_3608del (p.Val1200GlyfsTer?)
c.1572_1581del
c.*895_*904del (n.*895_*904del)
n.4538_4547del
n.3139_3148del
c.3650_3659del (p.Val1217GlyfsTer?)
c.3698_3707del (p.Val1233GlyfsTer?)
c.3758_3767del (p.Val1253GlyfsTer?)
c.3308_3317del (p.Val1103GlyfsTer?)
c.1610_1619del (p.Val537GlyfsTer?)
c.1427_1436del (p.Val476GlyfsTer?)
c.3659_3668del (p.Val1220GlyfsTer?)
c.3611_3620del (p.Val1204GlyfsTer?)
c.3380_3389del (p.Val1127GlyfsTer?)
c.3281_3290del (p.Val1094GlyfsTer?)
c.2462_2471del (p.Val821GlyfsTer?)
n.4013_4022del
13g.51937584_51937587dupCA2695218759ATP7Bc.*1444_*1447dup (n.*1444_*1447dup)
c.*2538_*2541dup (n.*2538_*2541dup)
c.3173_3176dup (p.Asp1060GlyfsTer6)
c.3794_3797dup (p.Asp1267GlyfsTer6)
c.3461_3464dup (p.Asp1156GlyfsTer6)
c.3542_3545dup (p.Asp1183GlyfsTer6)
n.1035_1038dup
c.3560_3563dup (p.Asp1189GlyfsTer6)
n.3933_3936dup
n.660_663dup
c.2729_2732dup (p.Asp912GlyfsTer6)
c.2504_2507dup (p.Asp837GlyfsTer6)
c.3599_3602dup (p.Asp1202GlyfsTer6)
c.1572_1575dup
c.*895_*898dup (n.*895_*898dup)
n.4538_4541dup
n.3139_3142dup
c.3650_3653dup (p.Asp1219GlyfsTer6)
c.3698_3701dup (p.Asp1235GlyfsTer6)
c.3758_3761dup (p.Asp1255GlyfsTer6)
c.3308_3311dup (p.Asp1105GlyfsTer6)
c.1610_1613dup (p.Asp539GlyfsTer6)
c.1427_1430dup (p.Asp478GlyfsTer6)
c.3659_3662dup (p.Asp1222GlyfsTer6)
c.3611_3614dup (p.Asp1206GlyfsTer6)
c.3380_3383dup (p.Asp1129GlyfsTer6)
c.3281_3284dup (p.Asp1096GlyfsTer6)
c.2462_2465dup (p.Asp823GlyfsTer6)
n.4013_4016dup
13g.51937583C>ACA388022026ATP7Bc.*1446G>T (n.*1446G>T)
c.*2540G>T (n.*2540G>T)
c.3175G>T (p.Gly1059Trp)
c.3796G>T (p.Gly1266Trp)
c.3463G>T (p.Gly1155Trp)
c.3544G>T (p.Gly1182Trp)
n.1037G>T
c.3562G>T (p.Gly1188Trp)
n.3935G>T
n.662G>T
c.2731G>T (p.Gly911Trp)
c.2506G>T (p.Gly836Trp)
c.3601G>T (p.Gly1201Trp)
c.1574G>T
c.*897G>T (n.*897G>T)
n.4540G>T
n.3141G>T
c.3652G>T (p.Gly1218Trp)
c.3700G>T (p.Gly1234Trp)
c.3760G>T (p.Gly1254Trp)
c.3310G>T (p.Gly1104Trp)
c.1612G>T (p.Gly538Trp)
c.1429G>T (p.Gly477Trp)
c.3661G>T (p.Gly1221Trp)
c.3613G>T (p.Gly1205Trp)
c.3382G>T (p.Gly1128Trp)
c.3283G>T (p.Gly1095Trp)
c.2464G>T (p.Gly822Trp)
n.4015G>T
 dbSNP
13g.51937583C=CA2091554101ATP7Bc.*1446G= (n.*1446G=)
c.*2540G= (n.*2540G=)
c.3175G= (p.Gly1059=)
c.3796G= (p.Gly1266=)
c.3463G= (p.Gly1155=)
c.3544G= (p.Gly1182=)
n.1037G=
c.3562G= (p.Gly1188=)
n.3935G=
n.662G=
c.2731G= (p.Gly911=)
c.2506G= (p.Gly836=)
c.3601G= (p.Gly1201=)
c.1574G=
c.*897G= (n.*897G=)
n.4540G=
n.3141G=
c.3652G= (p.Gly1218=)
c.3700G= (p.Gly1234=)
c.3760G= (p.Gly1254=)
c.3310G= (p.Gly1104=)
c.1612G= (p.Gly538=)
c.1429G= (p.Gly477=)
c.3661G= (p.Gly1221=)
c.3613G= (p.Gly1205=)
c.3382G= (p.Gly1128=)
c.3283G= (p.Gly1095=)
c.2464G= (p.Gly822=)
n.4015G=
13g.51937583C>GCA388022028ATP7Bc.*1446G>C (n.*1446G>C)
c.*2540G>C (n.*2540G>C)
c.3175G>C (p.Gly1059Arg)
c.3796G>C (p.Gly1266Arg)
c.3463G>C (p.Gly1155Arg)
c.3544G>C (p.Gly1182Arg)
n.1037G>C
c.3562G>C (p.Gly1188Arg)
n.3935G>C
n.662G>C
c.2731G>C (p.Gly911Arg)
c.2506G>C (p.Gly836Arg)
c.3601G>C (p.Gly1201Arg)
c.1574G>C
c.*897G>C (n.*897G>C)
n.4540G>C
n.3141G>C
c.3652G>C (p.Gly1218Arg)
c.3700G>C (p.Gly1234Arg)
c.3760G>C (p.Gly1254Arg)
c.3310G>C (p.Gly1104Arg)
c.1612G>C (p.Gly538Arg)
c.1429G>C (p.Gly477Arg)
c.3661G>C (p.Gly1221Arg)
c.3613G>C (p.Gly1205Arg)
c.3382G>C (p.Gly1128Arg)
c.3283G>C (p.Gly1095Arg)
c.2464G>C (p.Gly822Arg)
n.4015G>C
13g.51937583C>TCA252890ATP7Bc.*1446G>A (n.*1446G>A)
c.*2540G>A (n.*2540G>A)
c.3175G>A (p.Gly1059Arg)
c.3796G>A (p.Gly1266Arg)
c.3463G>A (p.Gly1155Arg)
c.3544G>A (p.Gly1182Arg)
n.1037G>A
c.3562G>A (p.Gly1188Arg)
n.3935G>A
n.662G>A
c.2731G>A (p.Gly911Arg)
c.2506G>A (p.Gly836Arg)
c.3601G>A (p.Gly1201Arg)
c.1574G>A
c.*897G>A (n.*897G>A)
n.4540G>A
n.3141G>A
c.3652G>A (p.Gly1218Arg)
c.3700G>A (p.Gly1234Arg)
c.3760G>A (p.Gly1254Arg)
c.3310G>A (p.Gly1104Arg)
c.1612G>A (p.Gly538Arg)
c.1429G>A (p.Gly477Arg)
c.3661G>A (p.Gly1221Arg)
c.3613G>A (p.Gly1205Arg)
c.3382G>A (p.Gly1128Arg)
c.3283G>A (p.Gly1095Arg)
c.2464G>A (p.Gly822Arg)
n.4015G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937584C>ACA484024342ATP7Bc.*1445G>T (n.*1445G>T)
c.*2539G>T (n.*2539G>T)
c.3174G>T (p.Val1058=)
c.3795G>T (p.Val1265=)
c.3462G>T (p.Val1154=)
c.3543G>T (p.Val1181=)
n.1036G>T
c.3561G>T (p.Val1187=)
n.3934G>T
n.661G>T
c.2730G>T (p.Val910=)
c.2505G>T (p.Val835=)
c.3600G>T (p.Val1200=)
c.1573G>T
c.*896G>T (n.*896G>T)
n.4539G>T
n.3140G>T
c.3651G>T (p.Val1217=)
c.3699G>T (p.Val1233=)
c.3759G>T (p.Val1253=)
c.3309G>T (p.Val1103=)
c.1611G>T (p.Val537=)
c.1428G>T (p.Val476=)
c.3660G>T (p.Val1220=)
c.3612G>T (p.Val1204=)
c.3381G>T (p.Val1127=)
c.3282G>T (p.Val1094=)
c.2463G>T (p.Val821=)
n.4014G>T
 ClinVar dbSNP gnomAD v4
13g.51937584C=CA2091554105ATP7Bc.*1445G= (n.*1445G=)
c.*2539G= (n.*2539G=)
c.3174G= (p.Val1058=)
c.3795G= (p.Val1265=)
c.3462G= (p.Val1154=)
c.3543G= (p.Val1181=)
n.1036G=
c.3561G= (p.Val1187=)
n.3934G=
n.661G=
c.2730G= (p.Val910=)
c.2505G= (p.Val835=)
c.3600G= (p.Val1200=)
c.1573G=
c.*896G= (n.*896G=)
n.4539G=
n.3140G=
c.3651G= (p.Val1217=)
c.3699G= (p.Val1233=)
c.3759G= (p.Val1253=)
c.3309G= (p.Val1103=)
c.1611G= (p.Val537=)
c.1428G= (p.Val476=)
c.3660G= (p.Val1220=)
c.3612G= (p.Val1204=)
c.3381G= (p.Val1127=)
c.3282G= (p.Val1094=)
c.2463G= (p.Val821=)
n.4014G=
13g.51937584C>GCA484024343ATP7Bc.*1445G>C (n.*1445G>C)
c.*2539G>C (n.*2539G>C)
c.3174G>C (p.Val1058=)
c.3795G>C (p.Val1265=)
c.3462G>C (p.Val1154=)
c.3543G>C (p.Val1181=)
n.1036G>C
c.3561G>C (p.Val1187=)
n.3934G>C
n.661G>C
c.2730G>C (p.Val910=)
c.2505G>C (p.Val835=)
c.3600G>C (p.Val1200=)
c.1573G>C
c.*896G>C (n.*896G>C)
n.4539G>C
n.3140G>C
c.3651G>C (p.Val1217=)
c.3699G>C (p.Val1233=)
c.3759G>C (p.Val1253=)
c.3309G>C (p.Val1103=)
c.1611G>C (p.Val537=)
c.1428G>C (p.Val476=)
c.3660G>C (p.Val1220=)
c.3612G>C (p.Val1204=)
c.3381G>C (p.Val1127=)
c.3282G>C (p.Val1094=)
c.2463G>C (p.Val821=)
n.4014G>C
 ClinVar
13g.51937584C>TCA484024344ATP7Bc.*1445G>A (n.*1445G>A)
c.*2539G>A (n.*2539G>A)
c.3174G>A (p.Val1058=)
c.3795G>A (p.Val1265=)
c.3462G>A (p.Val1154=)
c.3543G>A (p.Val1181=)
n.1036G>A
c.3561G>A (p.Val1187=)
n.3934G>A
n.661G>A
c.2730G>A (p.Val910=)
c.2505G>A (p.Val835=)
c.3600G>A (p.Val1200=)
c.1573G>A
c.*896G>A (n.*896G>A)
n.4539G>A
n.3140G>A
c.3651G>A (p.Val1217=)
c.3699G>A (p.Val1233=)
c.3759G>A (p.Val1253=)
c.3309G>A (p.Val1103=)
c.1611G>A (p.Val537=)
c.1428G>A (p.Val476=)
c.3660G>A (p.Val1220=)
c.3612G>A (p.Val1204=)
c.3381G>A (p.Val1127=)
c.3282G>A (p.Val1094=)
c.2463G>A (p.Val821=)
n.4014G>A
 ClinVar dbSNP gnomAD v4
13g.51937585A>CCA388022033ATP7Bc.*1444T>G (n.*1444T>G)
c.*2538T>G (n.*2538T>G)
c.3173T>G (p.Val1058Gly)
c.3794T>G (p.Val1265Gly)
c.3461T>G (p.Val1154Gly)
c.3542T>G (p.Val1181Gly)
n.1035T>G
c.3560T>G (p.Val1187Gly)
n.3933T>G
n.660T>G
c.2729T>G (p.Val910Gly)
c.2504T>G (p.Val835Gly)
c.3599T>G (p.Val1200Gly)
c.1572T>G
c.*895T>G (n.*895T>G)
n.4538T>G
n.3139T>G
c.3650T>G (p.Val1217Gly)
c.3698T>G (p.Val1233Gly)
c.3758T>G (p.Val1253Gly)
c.3308T>G (p.Val1103Gly)
c.1610T>G (p.Val537Gly)
c.1427T>G (p.Val476Gly)
c.3659T>G (p.Val1220Gly)
c.3611T>G (p.Val1204Gly)
c.3380T>G (p.Val1127Gly)
c.3281T>G (p.Val1094Gly)
c.2462T>G (p.Val821Gly)
n.4013T>G
13g.51937585A>GCA388022035ATP7Bc.*1444T>C (n.*1444T>C)
c.*2538T>C (n.*2538T>C)
c.3173T>C (p.Val1058Ala)
c.3794T>C (p.Val1265Ala)
c.3461T>C (p.Val1154Ala)
c.3542T>C (p.Val1181Ala)
n.1035T>C
c.3560T>C (p.Val1187Ala)
n.3933T>C
n.660T>C
c.2729T>C (p.Val910Ala)
c.2504T>C (p.Val835Ala)
c.3599T>C (p.Val1200Ala)
c.1572T>C
c.*895T>C (n.*895T>C)
n.4538T>C
n.3139T>C
c.3650T>C (p.Val1217Ala)
c.3698T>C (p.Val1233Ala)
c.3758T>C (p.Val1253Ala)
c.3308T>C (p.Val1103Ala)
c.1610T>C (p.Val537Ala)
c.1427T>C (p.Val476Ala)
c.3659T>C (p.Val1220Ala)
c.3611T>C (p.Val1204Ala)
c.3380T>C (p.Val1127Ala)
c.3281T>C (p.Val1094Ala)
c.2462T>C (p.Val821Ala)
n.4013T>C
13g.51937585A>TCA388022042ATP7Bc.*1444T>A (n.*1444T>A)
c.*2538T>A (n.*2538T>A)
c.3173T>A (p.Val1058Glu)
c.3794T>A (p.Val1265Glu)
c.3461T>A (p.Val1154Glu)
c.3542T>A (p.Val1181Glu)
n.1035T>A
c.3560T>A (p.Val1187Glu)
n.3933T>A
n.660T>A
c.2729T>A (p.Val910Glu)
c.2504T>A (p.Val835Glu)
c.3599T>A (p.Val1200Glu)
c.1572T>A
c.*895T>A (n.*895T>A)
n.4538T>A
n.3139T>A
c.3650T>A (p.Val1217Glu)
c.3698T>A (p.Val1233Glu)
c.3758T>A (p.Val1253Glu)
c.3308T>A (p.Val1103Glu)
c.1610T>A (p.Val537Glu)
c.1427T>A (p.Val476Glu)
c.3659T>A (p.Val1220Glu)
c.3611T>A (p.Val1204Glu)
c.3380T>A (p.Val1127Glu)
c.3281T>A (p.Val1094Glu)
c.2462T>A (p.Val821Glu)
n.4013T>A
13g.51937586C>ACA388022049ATP7Bc.*1443G>T (n.*1443G>T)
c.*2537G>T (n.*2537G>T)
c.3172G>T (p.Val1058Leu)
c.3793G>T (p.Val1265Leu)
c.3460G>T (p.Val1154Leu)
c.3541G>T (p.Val1181Leu)
n.1034G>T
c.3559G>T (p.Val1187Leu)
n.3932G>T
n.659G>T
c.2728G>T (p.Val910Leu)
c.2503G>T (p.Val835Leu)
c.3598G>T (p.Val1200Leu)
c.1571G>T
c.*894G>T (n.*894G>T)
n.4537G>T
n.3138G>T
c.3649G>T (p.Val1217Leu)
c.3697G>T (p.Val1233Leu)
c.3757G>T (p.Val1253Leu)
c.3307G>T (p.Val1103Leu)
c.1609G>T (p.Val537Leu)
c.1426G>T (p.Val476Leu)
c.3658G>T (p.Val1220Leu)
c.3610G>T (p.Val1204Leu)
c.3379G>T (p.Val1127Leu)
c.3280G>T (p.Val1094Leu)
c.2461G>T (p.Val821Leu)
n.4012G>T
 dbSNP
13g.51937586C=CA2091554106ATP7Bc.*1443G= (n.*1443G=)
c.*2537G= (n.*2537G=)
c.3172G= (p.Val1058=)
c.3793G= (p.Val1265=)
c.3460G= (p.Val1154=)
c.3541G= (p.Val1181=)
n.1034G=
c.3559G= (p.Val1187=)
n.3932G=
n.659G=
c.2728G= (p.Val910=)
c.2503G= (p.Val835=)
c.3598G= (p.Val1200=)
c.1571G=
c.*894G= (n.*894G=)
n.4537G=
n.3138G=
c.3649G= (p.Val1217=)
c.3697G= (p.Val1233=)
c.3757G= (p.Val1253=)
c.3307G= (p.Val1103=)
c.1609G= (p.Val537=)
c.1426G= (p.Val476=)
c.3658G= (p.Val1220=)
c.3610G= (p.Val1204=)
c.3379G= (p.Val1127=)
c.3280G= (p.Val1094=)
c.2461G= (p.Val821=)
n.4012G=
13g.51937586C>GCA388022044ATP7Bc.*1443G>C (n.*1443G>C)
c.*2537G>C (n.*2537G>C)
c.3172G>C (p.Val1058Leu)
c.3793G>C (p.Val1265Leu)
c.3460G>C (p.Val1154Leu)
c.3541G>C (p.Val1181Leu)
n.1034G>C
c.3559G>C (p.Val1187Leu)
n.3932G>C
n.659G>C
c.2728G>C (p.Val910Leu)
c.2503G>C (p.Val835Leu)
c.3598G>C (p.Val1200Leu)
c.1571G>C
c.*894G>C (n.*894G>C)
n.4537G>C
n.3138G>C
c.3649G>C (p.Val1217Leu)
c.3697G>C (p.Val1233Leu)
c.3757G>C (p.Val1253Leu)
c.3307G>C (p.Val1103Leu)
c.1609G>C (p.Val537Leu)
c.1426G>C (p.Val476Leu)
c.3658G>C (p.Val1220Leu)
c.3610G>C (p.Val1204Leu)
c.3379G>C (p.Val1127Leu)
c.3280G>C (p.Val1094Leu)
c.2461G>C (p.Val821Leu)
n.4012G>C
13g.51937586C>TCA388022048ATP7Bc.*1443G>A (n.*1443G>A)
c.*2537G>A (n.*2537G>A)
c.3172G>A (p.Val1058Met)
c.3793G>A (p.Val1265Met)
c.3460G>A (p.Val1154Met)
c.3541G>A (p.Val1181Met)
n.1034G>A
c.3559G>A (p.Val1187Met)
n.3932G>A
n.659G>A
c.2728G>A (p.Val910Met)
c.2503G>A (p.Val835Met)
c.3598G>A (p.Val1200Met)
c.1571G>A
c.*894G>A (n.*894G>A)
n.4537G>A
n.3138G>A
c.3649G>A (p.Val1217Met)
c.3697G>A (p.Val1233Met)
c.3757G>A (p.Val1253Met)
c.3307G>A (p.Val1103Met)
c.1609G>A (p.Val537Met)
c.1426G>A (p.Val476Met)
c.3658G>A (p.Val1220Met)
c.3610G>A (p.Val1204Met)
c.3379G>A (p.Val1127Met)
c.3280G>A (p.Val1094Met)
c.2461G>A (p.Val821Met)
n.4012G>A
13g.51937587C>ACA388022050ATP7Bc.*1442G>T (n.*1442G>T)
c.*2536G>T (n.*2536G>T)
c.3171G>T (p.Met1057Ile)
c.3792G>T (p.Met1264Ile)
c.3459G>T (p.Met1153Ile)
c.3540G>T (p.Met1180Ile)
n.1033G>T
c.3558G>T (p.Met1186Ile)
n.3931G>T
n.658G>T
c.2727G>T (p.Met909Ile)
c.2502G>T (p.Met834Ile)
c.3597G>T (p.Met1199Ile)
c.1570G>T
c.*893G>T (n.*893G>T)
n.4536G>T
n.3137G>T
c.3648G>T (p.Met1216Ile)
c.3696G>T (p.Met1232Ile)
c.3756G>T (p.Met1252Ile)
c.3306G>T (p.Met1102Ile)
c.1608G>T (p.Met536Ile)
c.1425G>T (p.Met475Ile)
c.3657G>T (p.Met1219Ile)
c.3609G>T (p.Met1203Ile)
c.3378G>T (p.Met1126Ile)
c.3279G>T (p.Met1093Ile)
c.2460G>T (p.Met820Ile)
n.4011G>T
13g.51937587C>GCA388022053ATP7Bc.*1442G>C (n.*1442G>C)
c.*2536G>C (n.*2536G>C)
c.3171G>C (p.Met1057Ile)
c.3792G>C (p.Met1264Ile)
c.3459G>C (p.Met1153Ile)
c.3540G>C (p.Met1180Ile)
n.1033G>C
c.3558G>C (p.Met1186Ile)
n.3931G>C
n.658G>C
c.2727G>C (p.Met909Ile)
c.2502G>C (p.Met834Ile)
c.3597G>C (p.Met1199Ile)
c.1570G>C
c.*893G>C (n.*893G>C)
n.4536G>C
n.3137G>C
c.3648G>C (p.Met1216Ile)
c.3696G>C (p.Met1232Ile)
c.3756G>C (p.Met1252Ile)
c.3306G>C (p.Met1102Ile)
c.1608G>C (p.Met536Ile)
c.1425G>C (p.Met475Ile)
c.3657G>C (p.Met1219Ile)
c.3609G>C (p.Met1203Ile)
c.3378G>C (p.Met1126Ile)
c.3279G>C (p.Met1093Ile)
c.2460G>C (p.Met820Ile)
n.4011G>C
13g.51937587C>TCA388022054ATP7Bc.*1442G>A (n.*1442G>A)
c.*2536G>A (n.*2536G>A)
c.3171G>A (p.Met1057Ile)
c.3792G>A (p.Met1264Ile)
c.3459G>A (p.Met1153Ile)
c.3540G>A (p.Met1180Ile)
n.1033G>A
c.3558G>A (p.Met1186Ile)
n.3931G>A
n.658G>A
c.2727G>A (p.Met909Ile)
c.2502G>A (p.Met834Ile)
c.3597G>A (p.Met1199Ile)
c.1570G>A
c.*893G>A (n.*893G>A)
n.4536G>A
n.3137G>A
c.3648G>A (p.Met1216Ile)
c.3696G>A (p.Met1232Ile)
c.3756G>A (p.Met1252Ile)
c.3306G>A (p.Met1102Ile)
c.1608G>A (p.Met536Ile)
c.1425G>A (p.Met475Ile)
c.3657G>A (p.Met1219Ile)
c.3609G>A (p.Met1203Ile)
c.3378G>A (p.Met1126Ile)
c.3279G>A (p.Met1093Ile)
c.2460G>A (p.Met820Ile)
n.4011G>A
13g.51937588A>CCA388022056ATP7Bc.*1441T>G (n.*1441T>G)
c.*2535T>G (n.*2535T>G)
c.3170T>G (p.Met1057Arg)
c.3791T>G (p.Met1264Arg)
c.3458T>G (p.Met1153Arg)
c.3539T>G (p.Met1180Arg)
n.1032T>G
c.3557T>G (p.Met1186Arg)
n.3930T>G
n.657T>G
c.2726T>G (p.Met909Arg)
c.2501T>G (p.Met834Arg)
c.3596T>G (p.Met1199Arg)
c.1569T>G
c.*892T>G (n.*892T>G)
n.4535T>G
n.3136T>G
c.3647T>G (p.Met1216Arg)
c.3695T>G (p.Met1232Arg)
c.3755T>G (p.Met1252Arg)
c.3305T>G (p.Met1102Arg)
c.1607T>G (p.Met536Arg)
c.1424T>G (p.Met475Arg)
c.3656T>G (p.Met1219Arg)
c.3608T>G (p.Met1203Arg)
c.3377T>G (p.Met1126Arg)
c.3278T>G (p.Met1093Arg)
c.2459T>G (p.Met820Arg)
n.4010T>G
13g.51937588A>GCA388022057ATP7Bc.*1441T>C (n.*1441T>C)
c.*2535T>C (n.*2535T>C)
c.3170T>C (p.Met1057Thr)
c.3791T>C (p.Met1264Thr)
c.3458T>C (p.Met1153Thr)
c.3539T>C (p.Met1180Thr)
n.1032T>C
c.3557T>C (p.Met1186Thr)
n.3930T>C
n.657T>C
c.2726T>C (p.Met909Thr)
c.2501T>C (p.Met834Thr)
c.3596T>C (p.Met1199Thr)
c.1569T>C
c.*892T>C (n.*892T>C)
n.4535T>C
n.3136T>C
c.3647T>C (p.Met1216Thr)
c.3695T>C (p.Met1232Thr)
c.3755T>C (p.Met1252Thr)
c.3305T>C (p.Met1102Thr)
c.1607T>C (p.Met536Thr)
c.1424T>C (p.Met475Thr)
c.3656T>C (p.Met1219Thr)
c.3608T>C (p.Met1203Thr)
c.3377T>C (p.Met1126Thr)
c.3278T>C (p.Met1093Thr)
c.2459T>C (p.Met820Thr)
n.4010T>C
13g.51937588A>TCA388022059ATP7Bc.*1441T>A (n.*1441T>A)
c.*2535T>A (n.*2535T>A)
c.3170T>A (p.Met1057Lys)
c.3791T>A (p.Met1264Lys)
c.3458T>A (p.Met1153Lys)
c.3539T>A (p.Met1180Lys)
n.1032T>A
c.3557T>A (p.Met1186Lys)
n.3930T>A
n.657T>A
c.2726T>A (p.Met909Lys)
c.2501T>A (p.Met834Lys)
c.3596T>A (p.Met1199Lys)
c.1569T>A
c.*892T>A (n.*892T>A)
n.4535T>A
n.3136T>A
c.3647T>A (p.Met1216Lys)
c.3695T>A (p.Met1232Lys)
c.3755T>A (p.Met1252Lys)
c.3305T>A (p.Met1102Lys)
c.1607T>A (p.Met536Lys)
c.1424T>A (p.Met475Lys)
c.3656T>A (p.Met1219Lys)
c.3608T>A (p.Met1203Lys)
c.3377T>A (p.Met1126Lys)
c.3278T>A (p.Met1093Lys)
c.2459T>A (p.Met820Lys)
n.4010T>A
13g.51937588_51937597delCA2580087712ATP7Bc.*1432_*1441del (n.*1432_*1441del)
c.*2526_*2535del (n.*2526_*2535del)
c.3161_3170del (p.Lys1054ArgfsTer?)
c.3782_3791del (p.Lys1261ArgfsTer?)
c.3449_3458del (p.Lys1150ArgfsTer?)
c.3530_3539del (p.Lys1177ArgfsTer?)
n.1023_1032del
c.3548_3557del (p.Lys1183ArgfsTer?)
n.3921_3930del
n.648_657del
c.2717_2726del (p.Lys906ArgfsTer?)
c.2492_2501del (p.Lys831ArgfsTer?)
c.3587_3596del (p.Lys1196ArgfsTer?)
c.1560_1569del
c.*883_*892del (n.*883_*892del)
n.4526_4535del
n.3127_3136del
c.3638_3647del (p.Lys1213ArgfsTer?)
c.3686_3695del (p.Lys1229ArgfsTer?)
c.3746_3755del (p.Lys1249ArgfsTer?)
c.3296_3305del (p.Lys1099ArgfsTer?)
c.1598_1607del (p.Lys533ArgfsTer?)
c.1415_1424del (p.Lys472ArgfsTer?)
c.3647_3656del (p.Lys1216ArgfsTer?)
c.3599_3608del (p.Lys1200ArgfsTer?)
c.3368_3377del (p.Lys1123ArgfsTer?)
c.3269_3278del (p.Lys1090ArgfsTer?)
c.2450_2459del (p.Lys817ArgfsTer?)
n.4001_4010del
 ClinVar
13g.51937589T>ACA388022062ATP7Bc.*1440A>T (n.*1440A>T)
c.*2534A>T (n.*2534A>T)
c.3169A>T (p.Met1057Leu)
c.3790A>T (p.Met1264Leu)
c.3457A>T (p.Met1153Leu)
c.3538A>T (p.Met1180Leu)
n.1031A>T
c.3556A>T (p.Met1186Leu)
n.3929A>T
n.656A>T
c.2725A>T (p.Met909Leu)
c.2500A>T (p.Met834Leu)
c.3595A>T (p.Met1199Leu)
c.1568A>T
c.*891A>T (n.*891A>T)
n.4534A>T
n.3135A>T
c.3646A>T (p.Met1216Leu)
c.3694A>T (p.Met1232Leu)
c.3754A>T (p.Met1252Leu)
c.3304A>T (p.Met1102Leu)
c.1606A>T (p.Met536Leu)
c.1423A>T (p.Met475Leu)
c.3655A>T (p.Met1219Leu)
c.3607A>T (p.Met1203Leu)
c.3376A>T (p.Met1126Leu)
c.3277A>T (p.Met1093Leu)
c.2458A>T (p.Met820Leu)
n.4009A>T
 dbSNP
13g.51937589T>CCA388022065ATP7Bc.*1440A>G (n.*1440A>G)
c.*2534A>G (n.*2534A>G)
c.3169A>G (p.Met1057Val)
c.3790A>G (p.Met1264Val)
c.3457A>G (p.Met1153Val)
c.3538A>G (p.Met1180Val)
n.1031A>G
c.3556A>G (p.Met1186Val)
n.3929A>G
n.656A>G
c.2725A>G (p.Met909Val)
c.2500A>G (p.Met834Val)
c.3595A>G (p.Met1199Val)
c.1568A>G
c.*891A>G (n.*891A>G)
n.4534A>G
n.3135A>G
c.3646A>G (p.Met1216Val)
c.3694A>G (p.Met1232Val)
c.3754A>G (p.Met1252Val)
c.3304A>G (p.Met1102Val)
c.1606A>G (p.Met536Val)
c.1423A>G (p.Met475Val)
c.3655A>G (p.Met1219Val)
c.3607A>G (p.Met1203Val)
c.3376A>G (p.Met1126Val)
c.3277A>G (p.Met1093Val)
c.2458A>G (p.Met820Val)
n.4009A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937589T>GCA388022067ATP7Bc.*1440A>C (n.*1440A>C)
c.*2534A>C (n.*2534A>C)
c.3169A>C (p.Met1057Leu)
c.3790A>C (p.Met1264Leu)
c.3457A>C (p.Met1153Leu)
c.3538A>C (p.Met1180Leu)
n.1031A>C
c.3556A>C (p.Met1186Leu)
n.3929A>C
n.656A>C
c.2725A>C (p.Met909Leu)
c.2500A>C (p.Met834Leu)
c.3595A>C (p.Met1199Leu)
c.1568A>C
c.*891A>C (n.*891A>C)
n.4534A>C
n.3135A>C
c.3646A>C (p.Met1216Leu)
c.3694A>C (p.Met1232Leu)
c.3754A>C (p.Met1252Leu)
c.3304A>C (p.Met1102Leu)
c.1606A>C (p.Met536Leu)
c.1423A>C (p.Met475Leu)
c.3655A>C (p.Met1219Leu)
c.3607A>C (p.Met1203Leu)
c.3376A>C (p.Met1126Leu)
c.3277A>C (p.Met1093Leu)
c.2458A>C (p.Met820Leu)
n.4009A>C
13g.51937589T=CA2091554110ATP7Bc.*1440A= (n.*1440A=)
c.*2534A= (n.*2534A=)
c.3169A= (p.Met1057=)
c.3790A= (p.Met1264=)
c.3457A= (p.Met1153=)
c.3538A= (p.Met1180=)
n.1031A=
c.3556A= (p.Met1186=)
n.3929A=
n.656A=
c.2725A= (p.Met909=)
c.2500A= (p.Met834=)
c.3595A= (p.Met1199=)
c.1568A=
c.*891A= (n.*891A=)
n.4534A=
n.3135A=
c.3646A= (p.Met1216=)
c.3694A= (p.Met1232=)
c.3754A= (p.Met1252=)
c.3304A= (p.Met1102=)
c.1606A= (p.Met536=)
c.1423A= (p.Met475=)
c.3655A= (p.Met1219=)
c.3607A= (p.Met1203=)
c.3376A= (p.Met1126=)
c.3277A= (p.Met1093=)
c.2458A= (p.Met820=)
n.4009A=
13g.51937590G>ACA250073700ATP7Bc.*1439C>T (n.*1439C>T)
c.*2533C>T (n.*2533C>T)
c.3168C>T (p.Ala1056=)
c.3789C>T (p.Ala1263=)
c.3456C>T (p.Ala1152=)
c.3537C>T (p.Ala1179=)
n.1030C>T
c.3555C>T (p.Ala1185=)
n.3928C>T
n.655C>T
c.2724C>T (p.Ala908=)
c.2499C>T (p.Ala833=)
c.3594C>T (p.Ala1198=)
c.1567C>T
c.*890C>T (n.*890C>T)
n.4533C>T
n.3134C>T
c.3645C>T (p.Ala1215=)
c.3693C>T (p.Ala1231=)
c.3753C>T (p.Ala1251=)
c.3303C>T (p.Ala1101=)
c.1605C>T (p.Ala535=)
c.1422C>T (p.Ala474=)
c.3654C>T (p.Ala1218=)
c.3606C>T (p.Ala1202=)
c.3375C>T (p.Ala1125=)
c.3276C>T (p.Ala1092=)
c.2457C>T (p.Ala819=)
n.4008C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937590G>CCA484024345ATP7Bc.*1439C>G (n.*1439C>G)
c.*2533C>G (n.*2533C>G)
c.3168C>G (p.Ala1056=)
c.3789C>G (p.Ala1263=)
c.3456C>G (p.Ala1152=)
c.3537C>G (p.Ala1179=)
n.1030C>G
c.3555C>G (p.Ala1185=)
n.3928C>G
n.655C>G
c.2724C>G (p.Ala908=)
c.2499C>G (p.Ala833=)
c.3594C>G (p.Ala1198=)
c.1567C>G
c.*890C>G (n.*890C>G)
n.4533C>G
n.3134C>G
c.3645C>G (p.Ala1215=)
c.3693C>G (p.Ala1231=)
c.3753C>G (p.Ala1251=)
c.3303C>G (p.Ala1101=)
c.1605C>G (p.Ala535=)
c.1422C>G (p.Ala474=)
c.3654C>G (p.Ala1218=)
c.3606C>G (p.Ala1202=)
c.3375C>G (p.Ala1125=)
c.3276C>G (p.Ala1092=)
c.2457C>G (p.Ala819=)
n.4008C>G
13g.51937590G=CA2091554113ATP7Bc.*1439C= (n.*1439C=)
c.*2533C= (n.*2533C=)
c.3168C= (p.Ala1056=)
c.3789C= (p.Ala1263=)
c.3456C= (p.Ala1152=)
c.3537C= (p.Ala1179=)
n.1030C=
c.3555C= (p.Ala1185=)
n.3928C=
n.655C=
c.2724C= (p.Ala908=)
c.2499C= (p.Ala833=)
c.3594C= (p.Ala1198=)
c.1567C=
c.*890C= (n.*890C=)
n.4533C=
n.3134C=
c.3645C= (p.Ala1215=)
c.3693C= (p.Ala1231=)
c.3753C= (p.Ala1251=)
c.3303C= (p.Ala1101=)
c.1605C= (p.Ala535=)
c.1422C= (p.Ala474=)
c.3654C= (p.Ala1218=)
c.3606C= (p.Ala1202=)
c.3375C= (p.Ala1125=)
c.3276C= (p.Ala1092=)
c.2457C= (p.Ala819=)
n.4008C=
13g.51937590G>TCA484024346ATP7Bc.*1439C>A (n.*1439C>A)
c.*2533C>A (n.*2533C>A)
c.3168C>A (p.Ala1056=)
c.3789C>A (p.Ala1263=)
c.3456C>A (p.Ala1152=)
c.3537C>A (p.Ala1179=)
n.1030C>A
c.3555C>A (p.Ala1185=)
n.3928C>A
n.655C>A
c.2724C>A (p.Ala908=)
c.2499C>A (p.Ala833=)
c.3594C>A (p.Ala1198=)
c.1567C>A
c.*890C>A (n.*890C>A)
n.4533C>A
n.3134C>A
c.3645C>A (p.Ala1215=)
c.3693C>A (p.Ala1231=)
c.3753C>A (p.Ala1251=)
c.3303C>A (p.Ala1101=)
c.1605C>A (p.Ala535=)
c.1422C>A (p.Ala474=)
c.3654C>A (p.Ala1218=)
c.3606C>A (p.Ala1202=)
c.3375C>A (p.Ala1125=)
c.3276C>A (p.Ala1092=)
c.2457C>A (p.Ala819=)
n.4008C>A
13g.51937591G>ACA388022069ATP7Bc.*1438C>T (n.*1438C>T)
c.*2532C>T (n.*2532C>T)
c.3167C>T (p.Ala1056Val)
c.3788C>T (p.Ala1263Val)
c.3455C>T (p.Ala1152Val)
c.3536C>T (p.Ala1179Val)
n.1029C>T
c.3554C>T (p.Ala1185Val)
n.3927C>T
n.654C>T
c.2723C>T (p.Ala908Val)
c.2498C>T (p.Ala833Val)
c.3593C>T (p.Ala1198Val)
c.1566C>T
c.*889C>T (n.*889C>T)
n.4532C>T
n.3133C>T
c.3644C>T (p.Ala1215Val)
c.3692C>T (p.Ala1231Val)
c.3752C>T (p.Ala1251Val)
c.3302C>T (p.Ala1101Val)
c.1604C>T (p.Ala535Val)
c.1421C>T (p.Ala474Val)
c.3653C>T (p.Ala1218Val)
c.3605C>T (p.Ala1202Val)
c.3374C>T (p.Ala1125Val)
c.3275C>T (p.Ala1092Val)
c.2456C>T (p.Ala819Val)
n.4007C>T
13g.51937591G>CCA388022070ATP7Bc.*1438C>G (n.*1438C>G)
c.*2532C>G (n.*2532C>G)
c.3167C>G (p.Ala1056Gly)
c.3788C>G (p.Ala1263Gly)
c.3455C>G (p.Ala1152Gly)
c.3536C>G (p.Ala1179Gly)
n.1029C>G
c.3554C>G (p.Ala1185Gly)
n.3927C>G
n.654C>G
c.2723C>G (p.Ala908Gly)
c.2498C>G (p.Ala833Gly)
c.3593C>G (p.Ala1198Gly)
c.1566C>G
c.*889C>G (n.*889C>G)
n.4532C>G
n.3133C>G
c.3644C>G (p.Ala1215Gly)
c.3692C>G (p.Ala1231Gly)
c.3752C>G (p.Ala1251Gly)
c.3302C>G (p.Ala1101Gly)
c.1604C>G (p.Ala535Gly)
c.1421C>G (p.Ala474Gly)
c.3653C>G (p.Ala1218Gly)
c.3605C>G (p.Ala1202Gly)
c.3374C>G (p.Ala1125Gly)
c.3275C>G (p.Ala1092Gly)
c.2456C>G (p.Ala819Gly)
n.4007C>G
 ClinVar
13g.51937591G>TCA388022074ATP7Bc.*1438C>A (n.*1438C>A)
c.*2532C>A (n.*2532C>A)
c.3167C>A (p.Ala1056Asp)
c.3788C>A (p.Ala1263Asp)
c.3455C>A (p.Ala1152Asp)
c.3536C>A (p.Ala1179Asp)
n.1029C>A
c.3554C>A (p.Ala1185Asp)
n.3927C>A
n.654C>A
c.2723C>A (p.Ala908Asp)
c.2498C>A (p.Ala833Asp)
c.3593C>A (p.Ala1198Asp)
c.1566C>A
c.*889C>A (n.*889C>A)
n.4532C>A
n.3133C>A
c.3644C>A (p.Ala1215Asp)
c.3692C>A (p.Ala1231Asp)
c.3752C>A (p.Ala1251Asp)
c.3302C>A (p.Ala1101Asp)
c.1604C>A (p.Ala535Asp)
c.1421C>A (p.Ala474Asp)
c.3653C>A (p.Ala1218Asp)
c.3605C>A (p.Ala1202Asp)
c.3374C>A (p.Ala1125Asp)
c.3275C>A (p.Ala1092Asp)
c.2456C>A (p.Ala819Asp)
n.4007C>A
13g.51937591_51937592delinsGCCA2091554114ATP7Bc.*1437_*1438delinsGC (n.*1437_*1438delinsGC)
c.*2531_*2532delinsGC (n.*2531_*2532delinsGC)
c.3166_3167delinsGC (p.Ala1056=)
c.3787_3788delinsGC (p.Ala1263=)
c.3454_3455delinsGC (p.Ala1152=)
c.3535_3536delinsGC (p.Ala1179=)
n.1028_1029delinsGC
c.3553_3554delinsGC (p.Ala1185=)
n.3926_3927delinsGC
n.653_654delinsGC
c.2722_2723delinsGC (p.Ala908=)
c.2497_2498delinsGC (p.Ala833=)
c.3592_3593delinsGC (p.Ala1198=)
c.1565_1566delinsGC
c.*888_*889delinsGC (n.*888_*889delinsGC)
n.4531_4532delinsGC
n.3132_3133delinsGC
c.3643_3644delinsGC (p.Ala1215=)
c.3691_3692delinsGC (p.Ala1231=)
c.3751_3752delinsGC (p.Ala1251=)
c.3301_3302delinsGC (p.Ala1101=)
c.1603_1604delinsGC (p.Ala535=)
c.1420_1421delinsGC (p.Ala474=)
c.3652_3653delinsGC (p.Ala1218=)
c.3604_3605delinsGC (p.Ala1202=)
c.3373_3374delinsGC (p.Ala1125=)
c.3274_3275delinsGC (p.Ala1092=)
c.2455_2456delinsGC (p.Ala819=)
n.4006_4007delinsGC
13g.51937592delCA6988566ATP7Bc.*1437del (n.*1437del)
c.*2531del (n.*2531del)
c.3166del (p.Ala1056ProfsTer?)
c.3787del (p.Ala1263ProfsTer?)
c.3454del (p.Ala1152ProfsTer?)
c.3535del (p.Ala1179ProfsTer?)
n.1028del
c.3553del (p.Ala1185ProfsTer?)
n.3926del
n.653del
c.2722del (p.Ala908ProfsTer?)
c.2497del (p.Ala833ProfsTer?)
c.3592del (p.Ala1198ProfsTer?)
c.1565del
c.*888del (n.*888del)
n.4531del
n.3132del
c.3643del (p.Ala1215ProfsTer?)
c.3691del (p.Ala1231ProfsTer?)
c.3751del (p.Ala1251ProfsTer?)
c.3301del (p.Ala1101ProfsTer?)
c.1603del (p.Ala535ProfsTer?)
c.1420del (p.Ala474ProfsTer?)
c.3652del (p.Ala1218ProfsTer?)
c.3604del (p.Ala1202ProfsTer?)
c.3373del (p.Ala1125ProfsTer?)
c.3274del (p.Ala1092ProfsTer?)
c.2455del (p.Ala819ProfsTer?)
n.4006del
 dbSNP ExAC gnomAD v3 gnomAD v4
13g.51937592C>ACA388022075ATP7Bc.*1437G>T (n.*1437G>T)
c.*2531G>T (n.*2531G>T)
c.3166G>T (p.Ala1056Ser)
c.3787G>T (p.Ala1263Ser)
c.3454G>T (p.Ala1152Ser)
c.3535G>T (p.Ala1179Ser)
n.1028G>T
c.3553G>T (p.Ala1185Ser)
n.3926G>T
n.653G>T
c.2722G>T (p.Ala908Ser)
c.2497G>T (p.Ala833Ser)
c.3592G>T (p.Ala1198Ser)
c.1565G>T
c.*888G>T (n.*888G>T)
n.4531G>T
n.3132G>T
c.3643G>T (p.Ala1215Ser)
c.3691G>T (p.Ala1231Ser)
c.3751G>T (p.Ala1251Ser)
c.3301G>T (p.Ala1101Ser)
c.1603G>T (p.Ala535Ser)
c.1420G>T (p.Ala474Ser)
c.3652G>T (p.Ala1218Ser)
c.3604G>T (p.Ala1202Ser)
c.3373G>T (p.Ala1125Ser)
c.3274G>T (p.Ala1092Ser)
c.2455G>T (p.Ala819Ser)
n.4006G>T
 dbSNP
13g.51937592C=CA2091554115ATP7Bc.*1437G= (n.*1437G=)
c.*2531G= (n.*2531G=)
c.3166G= (p.Ala1056=)
c.3787G= (p.Ala1263=)
c.3454G= (p.Ala1152=)
c.3535G= (p.Ala1179=)
n.1028G=
c.3553G= (p.Ala1185=)
n.3926G=
n.653G=
c.2722G= (p.Ala908=)
c.2497G= (p.Ala833=)
c.3592G= (p.Ala1198=)
c.1565G=
c.*888G= (n.*888G=)
n.4531G=
n.3132G=
c.3643G= (p.Ala1215=)
c.3691G= (p.Ala1231=)
c.3751G= (p.Ala1251=)
c.3301G= (p.Ala1101=)
c.1603G= (p.Ala535=)
c.1420G= (p.Ala474=)
c.3652G= (p.Ala1218=)
c.3604G= (p.Ala1202=)
c.3373G= (p.Ala1125=)
c.3274G= (p.Ala1092=)
c.2455G= (p.Ala819=)
n.4006G=
13g.51937592C>GCA388022076ATP7Bc.*1437G>C (n.*1437G>C)
c.*2531G>C (n.*2531G>C)
c.3166G>C (p.Ala1056Pro)
c.3787G>C (p.Ala1263Pro)
c.3454G>C (p.Ala1152Pro)
c.3535G>C (p.Ala1179Pro)
n.1028G>C
c.3553G>C (p.Ala1185Pro)
n.3926G>C
n.653G>C
c.2722G>C (p.Ala908Pro)
c.2497G>C (p.Ala833Pro)
c.3592G>C (p.Ala1198Pro)
c.1565G>C
c.*888G>C (n.*888G>C)
n.4531G>C
n.3132G>C
c.3643G>C (p.Ala1215Pro)
c.3691G>C (p.Ala1231Pro)
c.3751G>C (p.Ala1251Pro)
c.3301G>C (p.Ala1101Pro)
c.1603G>C (p.Ala535Pro)
c.1420G>C (p.Ala474Pro)
c.3652G>C (p.Ala1218Pro)
c.3604G>C (p.Ala1202Pro)
c.3373G>C (p.Ala1125Pro)
c.3274G>C (p.Ala1092Pro)
c.2455G>C (p.Ala819Pro)
n.4006G>C
13g.51937592C>TCA6988567ATP7Bc.*1437G>A (n.*1437G>A)
c.*2531G>A (n.*2531G>A)
c.3166G>A (p.Ala1056Thr)
c.3787G>A (p.Ala1263Thr)
c.3454G>A (p.Ala1152Thr)
c.3535G>A (p.Ala1179Thr)
n.1028G>A
c.3553G>A (p.Ala1185Thr)
n.3926G>A
n.653G>A
c.2722G>A (p.Ala908Thr)
c.2497G>A (p.Ala833Thr)
c.3592G>A (p.Ala1198Thr)
c.1565G>A
c.*888G>A (n.*888G>A)
n.4531G>A
n.3132G>A
c.3643G>A (p.Ala1215Thr)
c.3691G>A (p.Ala1231Thr)
c.3751G>A (p.Ala1251Thr)
c.3301G>A (p.Ala1101Thr)
c.1603G>A (p.Ala535Thr)
c.1420G>A (p.Ala474Thr)
c.3652G>A (p.Ala1218Thr)
c.3604G>A (p.Ala1202Thr)
c.3373G>A (p.Ala1125Thr)
c.3274G>A (p.Ala1092Thr)
c.2455G>A (p.Ala819Thr)
n.4006G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937593G>ACA6988568ATP7Bc.*1436C>T (n.*1436C>T)
c.*2530C>T (n.*2530C>T)
c.3165C>T (p.Val1055=)
c.3786C>T (p.Val1262=)
c.3453C>T (p.Val1151=)
c.3534C>T (p.Val1178=)
n.1027C>T
c.3552C>T (p.Val1184=)
n.3925C>T
n.652C>T
c.2721C>T (p.Val907=)
c.2496C>T (p.Val832=)
c.3591C>T (p.Val1197=)
c.1564C>T
c.*887C>T (n.*887C>T)
n.4530C>T
n.3131C>T
c.3642C>T (p.Val1214=)
c.3690C>T (p.Val1230=)
c.3750C>T (p.Val1250=)
c.3300C>T (p.Val1100=)
c.1602C>T (p.Val534=)
c.1419C>T (p.Val473=)
c.3651C>T (p.Val1217=)
c.3603C>T (p.Val1201=)
c.3372C>T (p.Val1124=)
c.3273C>T (p.Val1091=)
c.2454C>T (p.Val818=)
n.4005C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937593G>CCA484024347ATP7Bc.*1436C>G (n.*1436C>G)
c.*2530C>G (n.*2530C>G)
c.3165C>G (p.Val1055=)
c.3786C>G (p.Val1262=)
c.3453C>G (p.Val1151=)
c.3534C>G (p.Val1178=)
n.1027C>G
c.3552C>G (p.Val1184=)
n.3925C>G
n.652C>G
c.2721C>G (p.Val907=)
c.2496C>G (p.Val832=)
c.3591C>G (p.Val1197=)
c.1564C>G
c.*887C>G (n.*887C>G)
n.4530C>G
n.3131C>G
c.3642C>G (p.Val1214=)
c.3690C>G (p.Val1230=)
c.3750C>G (p.Val1250=)
c.3300C>G (p.Val1100=)
c.1602C>G (p.Val534=)
c.1419C>G (p.Val473=)
c.3651C>G (p.Val1217=)
c.3603C>G (p.Val1201=)
c.3372C>G (p.Val1124=)
c.3273C>G (p.Val1091=)
c.2454C>G (p.Val818=)
n.4005C>G
13g.51937593G=CA2091554116ATP7Bc.*1436C= (n.*1436C=)
c.*2530C= (n.*2530C=)
c.3165C= (p.Val1055=)
c.3786C= (p.Val1262=)
c.3453C= (p.Val1151=)
c.3534C= (p.Val1178=)
n.1027C=
c.3552C= (p.Val1184=)
n.3925C=
n.652C=
c.2721C= (p.Val907=)
c.2496C= (p.Val832=)
c.3591C= (p.Val1197=)
c.1564C=
c.*887C= (n.*887C=)
n.4530C=
n.3131C=
c.3642C= (p.Val1214=)
c.3690C= (p.Val1230=)
c.3750C= (p.Val1250=)
c.3300C= (p.Val1100=)
c.1602C= (p.Val534=)
c.1419C= (p.Val473=)
c.3651C= (p.Val1217=)
c.3603C= (p.Val1201=)
c.3372C= (p.Val1124=)
c.3273C= (p.Val1091=)
c.2454C= (p.Val818=)
n.4005C=
13g.51937593G>TCA484024348ATP7Bc.*1436C>A (n.*1436C>A)
c.*2530C>A (n.*2530C>A)
c.3165C>A (p.Val1055=)
c.3786C>A (p.Val1262=)
c.3453C>A (p.Val1151=)
c.3534C>A (p.Val1178=)
n.1027C>A
c.3552C>A (p.Val1184=)
n.3925C>A
n.652C>A
c.2721C>A (p.Val907=)
c.2496C>A (p.Val832=)
c.3591C>A (p.Val1197=)
c.1564C>A
c.*887C>A (n.*887C>A)
n.4530C>A
n.3131C>A
c.3642C>A (p.Val1214=)
c.3690C>A (p.Val1230=)
c.3750C>A (p.Val1250=)
c.3300C>A (p.Val1100=)
c.1602C>A (p.Val534=)
c.1419C>A (p.Val473=)
c.3651C>A (p.Val1217=)
c.3603C>A (p.Val1201=)
c.3372C>A (p.Val1124=)
c.3273C>A (p.Val1091=)
c.2454C>A (p.Val818=)
n.4005C>A
13g.51937594A>CCA388022081ATP7Bc.*1435T>G (n.*1435T>G)
c.*2529T>G (n.*2529T>G)
c.3164T>G (p.Val1055Gly)
c.3785T>G (p.Val1262Gly)
c.3452T>G (p.Val1151Gly)
c.3533T>G (p.Val1178Gly)
n.1026T>G
c.3551T>G (p.Val1184Gly)
n.3924T>G
n.651T>G
c.2720T>G (p.Val907Gly)
c.2495T>G (p.Val832Gly)
c.3590T>G (p.Val1197Gly)
c.1563T>G
c.*886T>G (n.*886T>G)
n.4529T>G
n.3130T>G
c.3641T>G (p.Val1214Gly)
c.3689T>G (p.Val1230Gly)
c.3749T>G (p.Val1250Gly)
c.3299T>G (p.Val1100Gly)
c.1601T>G (p.Val534Gly)
c.1418T>G (p.Val473Gly)
c.3650T>G (p.Val1217Gly)
c.3602T>G (p.Val1201Gly)
c.3371T>G (p.Val1124Gly)
c.3272T>G (p.Val1091Gly)
c.2453T>G (p.Val818Gly)
n.4004T>G
13g.51937594A>GCA388022085ATP7Bc.*1435T>C (n.*1435T>C)
c.*2529T>C (n.*2529T>C)
c.3164T>C (p.Val1055Ala)
c.3785T>C (p.Val1262Ala)
c.3452T>C (p.Val1151Ala)
c.3533T>C (p.Val1178Ala)
n.1026T>C
c.3551T>C (p.Val1184Ala)
n.3924T>C
n.651T>C
c.2720T>C (p.Val907Ala)
c.2495T>C (p.Val832Ala)
c.3590T>C (p.Val1197Ala)
c.1563T>C
c.*886T>C (n.*886T>C)
n.4529T>C
n.3130T>C
c.3641T>C (p.Val1214Ala)
c.3689T>C (p.Val1230Ala)
c.3749T>C (p.Val1250Ala)
c.3299T>C (p.Val1100Ala)
c.1601T>C (p.Val534Ala)
c.1418T>C (p.Val473Ala)
c.3650T>C (p.Val1217Ala)
c.3602T>C (p.Val1201Ala)
c.3371T>C (p.Val1124Ala)
c.3272T>C (p.Val1091Ala)
c.2453T>C (p.Val818Ala)
n.4004T>C
13g.51937594A>TCA388022083ATP7Bc.*1435T>A (n.*1435T>A)
c.*2529T>A (n.*2529T>A)
c.3164T>A (p.Val1055Asp)
c.3785T>A (p.Val1262Asp)
c.3452T>A (p.Val1151Asp)
c.3533T>A (p.Val1178Asp)
n.1026T>A
c.3551T>A (p.Val1184Asp)
n.3924T>A
n.651T>A
c.2720T>A (p.Val907Asp)
c.2495T>A (p.Val832Asp)
c.3590T>A (p.Val1197Asp)
c.1563T>A
c.*886T>A (n.*886T>A)
n.4529T>A
n.3130T>A
c.3641T>A (p.Val1214Asp)
c.3689T>A (p.Val1230Asp)
c.3749T>A (p.Val1250Asp)
c.3299T>A (p.Val1100Asp)
c.1601T>A (p.Val534Asp)
c.1418T>A (p.Val473Asp)
c.3650T>A (p.Val1217Asp)
c.3602T>A (p.Val1201Asp)
c.3371T>A (p.Val1124Asp)
c.3272T>A (p.Val1091Asp)
c.2453T>A (p.Val818Asp)
n.4004T>A
13g.51937595C>ACA6988569ATP7Bc.*1434G>T (n.*1434G>T)
c.*2528G>T (n.*2528G>T)
c.3163G>T (p.Val1055Phe)
c.3784G>T (p.Val1262Phe)
c.3451G>T (p.Val1151Phe)
c.3532G>T (p.Val1178Phe)
n.1025G>T
c.3550G>T (p.Val1184Phe)
n.3923G>T
n.650G>T
c.2719G>T (p.Val907Phe)
c.2494G>T (p.Val832Phe)
c.3589G>T (p.Val1197Phe)
c.1562G>T
c.*885G>T (n.*885G>T)
n.4528G>T
n.3129G>T
c.3640G>T (p.Val1214Phe)
c.3688G>T (p.Val1230Phe)
c.3748G>T (p.Val1250Phe)
c.3298G>T (p.Val1100Phe)
c.1600G>T (p.Val534Phe)
c.1417G>T (p.Val473Phe)
c.3649G>T (p.Val1217Phe)
c.3601G>T (p.Val1201Phe)
c.3370G>T (p.Val1124Phe)
c.3271G>T (p.Val1091Phe)
c.2452G>T (p.Val818Phe)
n.4003G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937595C=CA2091554121ATP7Bc.*1434G= (n.*1434G=)
c.*2528G= (n.*2528G=)
c.3163G= (p.Val1055=)
c.3784G= (p.Val1262=)
c.3451G= (p.Val1151=)
c.3532G= (p.Val1178=)
n.1025G=
c.3550G= (p.Val1184=)
n.3923G=
n.650G=
c.2719G= (p.Val907=)
c.2494G= (p.Val832=)
c.3589G= (p.Val1197=)
c.1562G=
c.*885G= (n.*885G=)
n.4528G=
n.3129G=
c.3640G= (p.Val1214=)
c.3688G= (p.Val1230=)
c.3748G= (p.Val1250=)
c.3298G= (p.Val1100=)
c.1600G= (p.Val534=)
c.1417G= (p.Val473=)
c.3649G= (p.Val1217=)
c.3601G= (p.Val1201=)
c.3370G= (p.Val1124=)
c.3271G= (p.Val1091=)
c.2452G= (p.Val818=)
n.4003G=
13g.51937595C>GCA388022090ATP7Bc.*1434G>C (n.*1434G>C)
c.*2528G>C (n.*2528G>C)
c.3163G>C (p.Val1055Leu)
c.3784G>C (p.Val1262Leu)
c.3451G>C (p.Val1151Leu)
c.3532G>C (p.Val1178Leu)
n.1025G>C
c.3550G>C (p.Val1184Leu)
n.3923G>C
n.650G>C
c.2719G>C (p.Val907Leu)
c.2494G>C (p.Val832Leu)
c.3589G>C (p.Val1197Leu)
c.1562G>C
c.*885G>C (n.*885G>C)
n.4528G>C
n.3129G>C
c.3640G>C (p.Val1214Leu)
c.3688G>C (p.Val1230Leu)
c.3748G>C (p.Val1250Leu)
c.3298G>C (p.Val1100Leu)
c.1600G>C (p.Val534Leu)
c.1417G>C (p.Val473Leu)
c.3649G>C (p.Val1217Leu)
c.3601G>C (p.Val1201Leu)
c.3370G>C (p.Val1124Leu)
c.3271G>C (p.Val1091Leu)
c.2452G>C (p.Val818Leu)
n.4003G>C
13g.51937595C>TCA388022093ATP7Bc.*1434G>A (n.*1434G>A)
c.*2528G>A (n.*2528G>A)
c.3163G>A (p.Val1055Ile)
c.3784G>A (p.Val1262Ile)
c.3451G>A (p.Val1151Ile)
c.3532G>A (p.Val1178Ile)
n.1025G>A
c.3550G>A (p.Val1184Ile)
n.3923G>A
n.650G>A
c.2719G>A (p.Val907Ile)
c.2494G>A (p.Val832Ile)
c.3589G>A (p.Val1197Ile)
c.1562G>A
c.*885G>A (n.*885G>A)
n.4528G>A
n.3129G>A
c.3640G>A (p.Val1214Ile)
c.3688G>A (p.Val1230Ile)
c.3748G>A (p.Val1250Ile)
c.3298G>A (p.Val1100Ile)
c.1600G>A (p.Val534Ile)
c.1417G>A (p.Val473Ile)
c.3649G>A (p.Val1217Ile)
c.3601G>A (p.Val1201Ile)
c.3370G>A (p.Val1124Ile)
c.3271G>A (p.Val1091Ile)
c.2452G>A (p.Val818Ile)
n.4003G>A
13g.51937596T>ACA388022096ATP7Bc.*1433A>T (n.*1433A>T)
c.*2527A>T (n.*2527A>T)
c.3162A>T (p.Lys1054Asn)
c.3783A>T (p.Lys1261Asn)
c.3450A>T (p.Lys1150Asn)
c.3531A>T (p.Lys1177Asn)
n.1024A>T
c.3549A>T (p.Lys1183Asn)
n.3922A>T
n.649A>T
c.2718A>T (p.Lys906Asn)
c.2493A>T (p.Lys831Asn)
c.3588A>T (p.Lys1196Asn)
c.1561A>T
c.*884A>T (n.*884A>T)
n.4527A>T
n.3128A>T
c.3639A>T (p.Lys1213Asn)
c.3687A>T (p.Lys1229Asn)
c.3747A>T (p.Lys1249Asn)
c.3297A>T (p.Lys1099Asn)
c.1599A>T (p.Lys533Asn)
c.1416A>T (p.Lys472Asn)
c.3648A>T (p.Lys1216Asn)
c.3600A>T (p.Lys1200Asn)
c.3369A>T (p.Lys1123Asn)
c.3270A>T (p.Lys1090Asn)
c.2451A>T (p.Lys817Asn)
n.4002A>T
13g.51937596T>CCA6988570ATP7Bc.*1433A>G (n.*1433A>G)
c.*2527A>G (n.*2527A>G)
c.3162A>G (p.Lys1054=)
c.3783A>G (p.Lys1261=)
c.3450A>G (p.Lys1150=)
c.3531A>G (p.Lys1177=)
n.1024A>G
c.3549A>G (p.Lys1183=)
n.3922A>G
n.649A>G
c.2718A>G (p.Lys906=)
c.2493A>G (p.Lys831=)
c.3588A>G (p.Lys1196=)
c.1561A>G
c.*884A>G (n.*884A>G)
n.4527A>G
n.3128A>G
c.3639A>G (p.Lys1213=)
c.3687A>G (p.Lys1229=)
c.3747A>G (p.Lys1249=)
c.3297A>G (p.Lys1099=)
c.1599A>G (p.Lys533=)
c.1416A>G (p.Lys472=)
c.3648A>G (p.Lys1216=)
c.3600A>G (p.Lys1200=)
c.3369A>G (p.Lys1123=)
c.3270A>G (p.Lys1090=)
c.2451A>G (p.Lys817=)
n.4002A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937596T>GCA388022100ATP7Bc.*1433A>C (n.*1433A>C)
c.*2527A>C (n.*2527A>C)
c.3162A>C (p.Lys1054Asn)
c.3783A>C (p.Lys1261Asn)
c.3450A>C (p.Lys1150Asn)
c.3531A>C (p.Lys1177Asn)
n.1024A>C
c.3549A>C (p.Lys1183Asn)
n.3922A>C
n.649A>C
c.2718A>C (p.Lys906Asn)
c.2493A>C (p.Lys831Asn)
c.3588A>C (p.Lys1196Asn)
c.1561A>C
c.*884A>C (n.*884A>C)
n.4527A>C
n.3128A>C
c.3639A>C (p.Lys1213Asn)
c.3687A>C (p.Lys1229Asn)
c.3747A>C (p.Lys1249Asn)
c.3297A>C (p.Lys1099Asn)
c.1599A>C (p.Lys533Asn)
c.1416A>C (p.Lys472Asn)
c.3648A>C (p.Lys1216Asn)
c.3600A>C (p.Lys1200Asn)
c.3369A>C (p.Lys1123Asn)
c.3270A>C (p.Lys1090Asn)
c.2451A>C (p.Lys817Asn)
n.4002A>C
13g.51937596T=CA2091554124ATP7Bc.*1433A= (n.*1433A=)
c.*2527A= (n.*2527A=)
c.3162A= (p.Lys1054=)
c.3783A= (p.Lys1261=)
c.3450A= (p.Lys1150=)
c.3531A= (p.Lys1177=)
n.1024A=
c.3549A= (p.Lys1183=)
n.3922A=
n.649A=
c.2718A= (p.Lys906=)
c.2493A= (p.Lys831=)
c.3588A= (p.Lys1196=)
c.1561A=
c.*884A= (n.*884A=)
n.4527A=
n.3128A=
c.3639A= (p.Lys1213=)
c.3687A= (p.Lys1229=)
c.3747A= (p.Lys1249=)
c.3297A= (p.Lys1099=)
c.1599A= (p.Lys533=)
c.1416A= (p.Lys472=)
c.3648A= (p.Lys1216=)
c.3600A= (p.Lys1200=)
c.3369A= (p.Lys1123=)
c.3270A= (p.Lys1090=)
c.2451A= (p.Lys817=)
n.4002A=
13g.51937597T>ACA388022103ATP7Bc.*1432A>T (n.*1432A>T)
c.*2526A>T (n.*2526A>T)
c.3161A>T (p.Lys1054Ile)
c.3782A>T (p.Lys1261Ile)
c.3449A>T (p.Lys1150Ile)
c.3530A>T (p.Lys1177Ile)
n.1023A>T
c.3548A>T (p.Lys1183Ile)
n.3921A>T
n.648A>T
c.2717A>T (p.Lys906Ile)
c.2492A>T (p.Lys831Ile)
c.3587A>T (p.Lys1196Ile)
c.1560A>T
c.*883A>T (n.*883A>T)
n.4526A>T
n.3127A>T
c.3638A>T (p.Lys1213Ile)
c.3686A>T (p.Lys1229Ile)
c.3746A>T (p.Lys1249Ile)
c.3296A>T (p.Lys1099Ile)
c.1598A>T (p.Lys533Ile)
c.1415A>T (p.Lys472Ile)
c.3647A>T (p.Lys1216Ile)
c.3599A>T (p.Lys1200Ile)
c.3368A>T (p.Lys1123Ile)
c.3269A>T (p.Lys1090Ile)
c.2450A>T (p.Lys817Ile)
n.4001A>T
13g.51937597T>CCA250073735ATP7Bc.*1432A>G (n.*1432A>G)
c.*2526A>G (n.*2526A>G)
c.3161A>G (p.Lys1054Arg)
c.3782A>G (p.Lys1261Arg)
c.3449A>G (p.Lys1150Arg)
c.3530A>G (p.Lys1177Arg)
n.1023A>G
c.3548A>G (p.Lys1183Arg)
n.3921A>G
n.648A>G
c.2717A>G (p.Lys906Arg)
c.2492A>G (p.Lys831Arg)
c.3587A>G (p.Lys1196Arg)
c.1560A>G
c.*883A>G (n.*883A>G)
n.4526A>G
n.3127A>G
c.3638A>G (p.Lys1213Arg)
c.3686A>G (p.Lys1229Arg)
c.3746A>G (p.Lys1249Arg)
c.3296A>G (p.Lys1099Arg)
c.1598A>G (p.Lys533Arg)
c.1415A>G (p.Lys472Arg)
c.3647A>G (p.Lys1216Arg)
c.3599A>G (p.Lys1200Arg)
c.3368A>G (p.Lys1123Arg)
c.3269A>G (p.Lys1090Arg)
c.2450A>G (p.Lys817Arg)
n.4001A>G
 dbSNP
13g.51937597T>GCA388022108ATP7Bc.*1432A>C (n.*1432A>C)
c.*2526A>C (n.*2526A>C)
c.3161A>C (p.Lys1054Thr)
c.3782A>C (p.Lys1261Thr)
c.3449A>C (p.Lys1150Thr)
c.3530A>C (p.Lys1177Thr)
n.1023A>C
c.3548A>C (p.Lys1183Thr)
n.3921A>C
n.648A>C
c.2717A>C (p.Lys906Thr)
c.2492A>C (p.Lys831Thr)
c.3587A>C (p.Lys1196Thr)
c.1560A>C
c.*883A>C (n.*883A>C)
n.4526A>C
n.3127A>C
c.3638A>C (p.Lys1213Thr)
c.3686A>C (p.Lys1229Thr)
c.3746A>C (p.Lys1249Thr)
c.3296A>C (p.Lys1099Thr)
c.1598A>C (p.Lys533Thr)
c.1415A>C (p.Lys472Thr)
c.3647A>C (p.Lys1216Thr)
c.3599A>C (p.Lys1200Thr)
c.3368A>C (p.Lys1123Thr)
c.3269A>C (p.Lys1090Thr)
c.2450A>C (p.Lys817Thr)
n.4001A>C
13g.51937597T=CA2091554128ATP7Bc.*1432A= (n.*1432A=)
c.*2526A= (n.*2526A=)
c.3161A= (p.Lys1054=)
c.3782A= (p.Lys1261=)
c.3449A= (p.Lys1150=)
c.3530A= (p.Lys1177=)
n.1023A=
c.3548A= (p.Lys1183=)
n.3921A=
n.648A=
c.2717A= (p.Lys906=)
c.2492A= (p.Lys831=)
c.3587A= (p.Lys1196=)
c.1560A=
c.*883A= (n.*883A=)
n.4526A=
n.3127A=
c.3638A= (p.Lys1213=)
c.3686A= (p.Lys1229=)
c.3746A= (p.Lys1249=)
c.3296A= (p.Lys1099=)
c.1598A= (p.Lys533=)
c.1415A= (p.Lys472=)
c.3647A= (p.Lys1216=)
c.3599A= (p.Lys1200=)
c.3368A= (p.Lys1123=)
c.3269A= (p.Lys1090=)
c.2450A= (p.Lys817=)
n.4001A=
13g.51937598T>ACA388022115ATP7Bc.*1431A>T (n.*1431A>T)
c.*2525A>T (n.*2525A>T)
c.3160A>T (p.Lys1054Ter)
c.3781A>T (p.Lys1261Ter)
c.3448A>T (p.Lys1150Ter)
c.3529A>T (p.Lys1177Ter)
n.1022A>T
c.3547A>T (p.Lys1183Ter)
n.3920A>T
n.647A>T
c.2716A>T (p.Lys906Ter)
c.2491A>T (p.Lys831Ter)
c.3586A>T (p.Lys1196Ter)
c.1559A>T
c.*882A>T (n.*882A>T)
n.4525A>T
n.3126A>T
c.3637A>T (p.Lys1213Ter)
c.3685A>T (p.Lys1229Ter)
c.3745A>T (p.Lys1249Ter)
c.3295A>T (p.Lys1099Ter)
c.1597A>T (p.Lys533Ter)
c.1414A>T (p.Lys472Ter)
c.3646A>T (p.Lys1216Ter)
c.3598A>T (p.Lys1200Ter)
c.3367A>T (p.Lys1123Ter)
c.3268A>T (p.Lys1090Ter)
c.2449A>T (p.Lys817Ter)
n.4000A>T
13g.51937598T>CCA388022117ATP7Bc.*1431A>G (n.*1431A>G)
c.*2525A>G (n.*2525A>G)
c.3160A>G (p.Lys1054Glu)
c.3781A>G (p.Lys1261Glu)
c.3448A>G (p.Lys1150Glu)
c.3529A>G (p.Lys1177Glu)
n.1022A>G
c.3547A>G (p.Lys1183Glu)
n.3920A>G
n.647A>G
c.2716A>G (p.Lys906Glu)
c.2491A>G (p.Lys831Glu)
c.3586A>G (p.Lys1196Glu)
c.1559A>G
c.*882A>G (n.*882A>G)
n.4525A>G
n.3126A>G
c.3637A>G (p.Lys1213Glu)
c.3685A>G (p.Lys1229Glu)
c.3745A>G (p.Lys1249Glu)
c.3295A>G (p.Lys1099Glu)
c.1597A>G (p.Lys533Glu)
c.1414A>G (p.Lys472Glu)
c.3646A>G (p.Lys1216Glu)
c.3598A>G (p.Lys1200Glu)
c.3367A>G (p.Lys1123Glu)
c.3268A>G (p.Lys1090Glu)
c.2449A>G (p.Lys817Glu)
n.4000A>G
 gnomAD v4
13g.51937598T>GCA388022119ATP7Bc.*1431A>C (n.*1431A>C)
c.*2525A>C (n.*2525A>C)
c.3160A>C (p.Lys1054Gln)
c.3781A>C (p.Lys1261Gln)
c.3448A>C (p.Lys1150Gln)
c.3529A>C (p.Lys1177Gln)
n.1022A>C
c.3547A>C (p.Lys1183Gln)
n.3920A>C
n.647A>C
c.2716A>C (p.Lys906Gln)
c.2491A>C (p.Lys831Gln)
c.3586A>C (p.Lys1196Gln)
c.1559A>C
c.*882A>C (n.*882A>C)
n.4525A>C
n.3126A>C
c.3637A>C (p.Lys1213Gln)
c.3685A>C (p.Lys1229Gln)
c.3745A>C (p.Lys1249Gln)
c.3295A>C (p.Lys1099Gln)
c.1597A>C (p.Lys533Gln)
c.1414A>C (p.Lys472Gln)
c.3646A>C (p.Lys1216Gln)
c.3598A>C (p.Lys1200Gln)
c.3367A>C (p.Lys1123Gln)
c.3268A>C (p.Lys1090Gln)
c.2449A>C (p.Lys817Gln)
n.4000A>C
13g.51937599C>ACA388022123ATP7Bc.*1430G>T (n.*1430G>T)
c.*2524G>T (n.*2524G>T)
c.3159G>T (p.Lys1053Asn)
c.3780G>T (p.Lys1260Asn)
c.3447G>T (p.Lys1149Asn)
c.3528G>T (p.Lys1176Asn)
n.1021G>T
c.3546G>T (p.Lys1182Asn)
n.3919G>T
n.646G>T
c.2715G>T (p.Lys905Asn)
c.2490G>T (p.Lys830Asn)
c.3585G>T (p.Lys1195Asn)
c.1558G>T
c.*881G>T (n.*881G>T)
n.4524G>T
n.3125G>T
c.3636G>T (p.Lys1212Asn)
c.3684G>T (p.Lys1228Asn)
c.3744G>T (p.Lys1248Asn)
c.3294G>T (p.Lys1098Asn)
c.1596G>T (p.Lys532Asn)
c.1413G>T (p.Lys471Asn)
c.3645G>T (p.Lys1215Asn)
c.3597G>T (p.Lys1199Asn)
c.3366G>T (p.Lys1122Asn)
c.3267G>T (p.Lys1089Asn)
c.2448G>T (p.Lys816Asn)
n.3999G>T
 gnomAD v4
13g.51937599C>GCA388022121ATP7Bc.*1430G>C (n.*1430G>C)
c.*2524G>C (n.*2524G>C)
c.3159G>C (p.Lys1053Asn)
c.3780G>C (p.Lys1260Asn)
c.3447G>C (p.Lys1149Asn)
c.3528G>C (p.Lys1176Asn)
n.1021G>C
c.3546G>C (p.Lys1182Asn)
n.3919G>C
n.646G>C
c.2715G>C (p.Lys905Asn)
c.2490G>C (p.Lys830Asn)
c.3585G>C (p.Lys1195Asn)
c.1558G>C
c.*881G>C (n.*881G>C)
n.4524G>C
n.3125G>C
c.3636G>C (p.Lys1212Asn)
c.3684G>C (p.Lys1228Asn)
c.3744G>C (p.Lys1248Asn)
c.3294G>C (p.Lys1098Asn)
c.1596G>C (p.Lys532Asn)
c.1413G>C (p.Lys471Asn)
c.3645G>C (p.Lys1215Asn)
c.3597G>C (p.Lys1199Asn)
c.3366G>C (p.Lys1122Asn)
c.3267G>C (p.Lys1089Asn)
c.2448G>C (p.Lys816Asn)
n.3999G>C
 COSMIC
13g.51937599C>TCA484024349ATP7Bc.*1430G>A (n.*1430G>A)
c.*2524G>A (n.*2524G>A)
c.3159G>A (p.Lys1053=)
c.3780G>A (p.Lys1260=)
c.3447G>A (p.Lys1149=)
c.3528G>A (p.Lys1176=)
n.1021G>A
c.3546G>A (p.Lys1182=)
n.3919G>A
n.646G>A
c.2715G>A (p.Lys905=)
c.2490G>A (p.Lys830=)
c.3585G>A (p.Lys1195=)
c.1558G>A
c.*881G>A (n.*881G>A)
n.4524G>A
n.3125G>A
c.3636G>A (p.Lys1212=)
c.3684G>A (p.Lys1228=)
c.3744G>A (p.Lys1248=)
c.3294G>A (p.Lys1098=)
c.1596G>A (p.Lys532=)
c.1413G>A (p.Lys471=)
c.3645G>A (p.Lys1215=)
c.3597G>A (p.Lys1199=)
c.3366G>A (p.Lys1122=)
c.3267G>A (p.Lys1089=)
c.2448G>A (p.Lys816=)
n.3999G>A
13g.51937600T>ACA388022127ATP7Bc.*1429A>T (n.*1429A>T)
c.*2523A>T (n.*2523A>T)
c.3158A>T (p.Lys1053Met)
c.3779A>T (p.Lys1260Met)
c.3446A>T (p.Lys1149Met)
c.3527A>T (p.Lys1176Met)
n.1020A>T
c.3545A>T (p.Lys1182Met)
n.3918A>T
n.645A>T
c.2714A>T (p.Lys905Met)
c.2489A>T (p.Lys830Met)
c.3584A>T (p.Lys1195Met)
c.1557A>T
c.*880A>T (n.*880A>T)
n.4523A>T
n.3124A>T
c.3635A>T (p.Lys1212Met)
c.3683A>T (p.Lys1228Met)
c.3743A>T (p.Lys1248Met)
c.3293A>T (p.Lys1098Met)
c.1595A>T (p.Lys532Met)
c.1412A>T (p.Lys471Met)
c.3644A>T (p.Lys1215Met)
c.3596A>T (p.Lys1199Met)
c.3365A>T (p.Lys1122Met)
c.3266A>T (p.Lys1089Met)
c.2447A>T (p.Lys816Met)
n.3998A>T
13g.51937600T>CCA6988571ATP7Bc.*1429A>G (n.*1429A>G)
c.*2523A>G (n.*2523A>G)
c.3158A>G (p.Lys1053Arg)
c.3779A>G (p.Lys1260Arg)
c.3446A>G (p.Lys1149Arg)
c.3527A>G (p.Lys1176Arg)
n.1020A>G
c.3545A>G (p.Lys1182Arg)
n.3918A>G
n.645A>G
c.2714A>G (p.Lys905Arg)
c.2489A>G (p.Lys830Arg)
c.3584A>G (p.Lys1195Arg)
c.1557A>G
c.*880A>G (n.*880A>G)
n.4523A>G
n.3124A>G
c.3635A>G (p.Lys1212Arg)
c.3683A>G (p.Lys1228Arg)
c.3743A>G (p.Lys1248Arg)
c.3293A>G (p.Lys1098Arg)
c.1595A>G (p.Lys532Arg)
c.1412A>G (p.Lys471Arg)
c.3644A>G (p.Lys1215Arg)
c.3596A>G (p.Lys1199Arg)
c.3365A>G (p.Lys1122Arg)
c.3266A>G (p.Lys1089Arg)
c.2447A>G (p.Lys816Arg)
n.3998A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937600T>GCA388022130ATP7Bc.*1429A>C (n.*1429A>C)
c.*2523A>C (n.*2523A>C)
c.3158A>C (p.Lys1053Thr)
c.3779A>C (p.Lys1260Thr)
c.3446A>C (p.Lys1149Thr)
c.3527A>C (p.Lys1176Thr)
n.1020A>C
c.3545A>C (p.Lys1182Thr)
n.3918A>C
n.645A>C
c.2714A>C (p.Lys905Thr)
c.2489A>C (p.Lys830Thr)
c.3584A>C (p.Lys1195Thr)
c.1557A>C
c.*880A>C (n.*880A>C)
n.4523A>C
n.3124A>C
c.3635A>C (p.Lys1212Thr)
c.3683A>C (p.Lys1228Thr)
c.3743A>C (p.Lys1248Thr)
c.3293A>C (p.Lys1098Thr)
c.1595A>C (p.Lys532Thr)
c.1412A>C (p.Lys471Thr)
c.3644A>C (p.Lys1215Thr)
c.3596A>C (p.Lys1199Thr)
c.3365A>C (p.Lys1122Thr)
c.3266A>C (p.Lys1089Thr)
c.2447A>C (p.Lys816Thr)
n.3998A>C
13g.51937600T=CA2091554132ATP7Bc.*1429A= (n.*1429A=)
c.*2523A= (n.*2523A=)
c.3158A= (p.Lys1053=)
c.3779A= (p.Lys1260=)
c.3446A= (p.Lys1149=)
c.3527A= (p.Lys1176=)
n.1020A=
c.3545A= (p.Lys1182=)
n.3918A=
n.645A=
c.2714A= (p.Lys905=)
c.2489A= (p.Lys830=)
c.3584A= (p.Lys1195=)
c.1557A=
c.*880A= (n.*880A=)
n.4523A=
n.3124A=
c.3635A= (p.Lys1212=)
c.3683A= (p.Lys1228=)
c.3743A= (p.Lys1248=)
c.3293A= (p.Lys1098=)
c.1595A= (p.Lys532=)
c.1412A= (p.Lys471=)
c.3644A= (p.Lys1215=)
c.3596A= (p.Lys1199=)
c.3365A= (p.Lys1122=)
c.3266A= (p.Lys1089=)
c.2447A= (p.Lys816=)
n.3998A=
13g.51937601delCA2623119310ATP7Bc.*1429del (n.*1429del)
c.*2523del (n.*2523del)
c.3158del (p.Lys1053ArgfsTer?)
c.3779del (p.Lys1260ArgfsTer?)
c.3446del (p.Lys1149ArgfsTer?)
c.3527del (p.Lys1176ArgfsTer?)
n.1020del
c.3545del (p.Lys1182ArgfsTer?)
n.3918del
n.645del
c.2714del (p.Lys905ArgfsTer?)
c.2489del (p.Lys830ArgfsTer?)
c.3584del (p.Lys1195ArgfsTer?)
c.1557del
c.*880del (n.*880del)
n.4523del
n.3124del
c.3635del (p.Lys1212ArgfsTer?)
c.3683del (p.Lys1228ArgfsTer?)
c.3743del (p.Lys1248ArgfsTer?)
c.3293del (p.Lys1098ArgfsTer?)
c.1595del (p.Lys532ArgfsTer?)
c.1412del (p.Lys471ArgfsTer?)
c.3644del (p.Lys1215ArgfsTer?)
c.3596del (p.Lys1199ArgfsTer?)
c.3365del (p.Lys1122ArgfsTer?)
c.3266del (p.Lys1089ArgfsTer?)
c.2447del (p.Lys816ArgfsTer?)
n.3998del
 gnomAD v4
13g.51937601T>ACA388022133ATP7Bc.*1428A>T (n.*1428A>T)
c.*2522A>T (n.*2522A>T)
c.3157A>T (p.Lys1053Ter)
c.3778A>T (p.Lys1260Ter)
c.3445A>T (p.Lys1149Ter)
c.3526A>T (p.Lys1176Ter)
n.1019A>T
c.3544A>T (p.Lys1182Ter)
n.3917A>T
n.644A>T
c.2713A>T (p.Lys905Ter)
c.2488A>T (p.Lys830Ter)
c.3583A>T (p.Lys1195Ter)
c.1556A>T
c.*879A>T (n.*879A>T)
n.4522A>T
n.3123A>T
c.3634A>T (p.Lys1212Ter)
c.3682A>T (p.Lys1228Ter)
c.3742A>T (p.Lys1248Ter)
c.3292A>T (p.Lys1098Ter)
c.1594A>T (p.Lys532Ter)
c.1411A>T (p.Lys471Ter)
c.3643A>T (p.Lys1215Ter)
c.3595A>T (p.Lys1199Ter)
c.3364A>T (p.Lys1122Ter)
c.3265A>T (p.Lys1089Ter)
c.2446A>T (p.Lys816Ter)
n.3997A>T
13g.51937601T>CCA388022134ATP7Bc.*1428A>G (n.*1428A>G)
c.*2522A>G (n.*2522A>G)
c.3157A>G (p.Lys1053Glu)
c.3778A>G (p.Lys1260Glu)
c.3445A>G (p.Lys1149Glu)
c.3526A>G (p.Lys1176Glu)
n.1019A>G
c.3544A>G (p.Lys1182Glu)
n.3917A>G
n.644A>G
c.2713A>G (p.Lys905Glu)
c.2488A>G (p.Lys830Glu)
c.3583A>G (p.Lys1195Glu)
c.1556A>G
c.*879A>G (n.*879A>G)
n.4522A>G
n.3123A>G
c.3634A>G (p.Lys1212Glu)
c.3682A>G (p.Lys1228Glu)
c.3742A>G (p.Lys1248Glu)
c.3292A>G (p.Lys1098Glu)
c.1594A>G (p.Lys532Glu)
c.1411A>G (p.Lys471Glu)
c.3643A>G (p.Lys1215Glu)
c.3595A>G (p.Lys1199Glu)
c.3364A>G (p.Lys1122Glu)
c.3265A>G (p.Lys1089Glu)
c.2446A>G (p.Lys816Glu)
n.3997A>G
13g.51937601T>GCA388022137ATP7Bc.*1428A>C (n.*1428A>C)
c.*2522A>C (n.*2522A>C)
c.3157A>C (p.Lys1053Gln)
c.3778A>C (p.Lys1260Gln)
c.3445A>C (p.Lys1149Gln)
c.3526A>C (p.Lys1176Gln)
n.1019A>C
c.3544A>C (p.Lys1182Gln)
n.3917A>C
n.644A>C
c.2713A>C (p.Lys905Gln)
c.2488A>C (p.Lys830Gln)
c.3583A>C (p.Lys1195Gln)
c.1556A>C
c.*879A>C (n.*879A>C)
n.4522A>C
n.3123A>C
c.3634A>C (p.Lys1212Gln)
c.3682A>C (p.Lys1228Gln)
c.3742A>C (p.Lys1248Gln)
c.3292A>C (p.Lys1098Gln)
c.1594A>C (p.Lys532Gln)
c.1411A>C (p.Lys471Gln)
c.3643A>C (p.Lys1215Gln)
c.3595A>C (p.Lys1199Gln)
c.3364A>C (p.Lys1122Gln)
c.3265A>C (p.Lys1089Gln)
c.2446A>C (p.Lys816Gln)
n.3997A>C
13g.51937602C>ACA484024350ATP7Bc.*1427G>T (n.*1427G>T)
c.*2521G>T (n.*2521G>T)
c.3156G>T (p.Gly1052=)
c.3777G>T (p.Gly1259=)
c.3444G>T (p.Gly1148=)
c.3525G>T (p.Gly1175=)
n.1018G>T
c.3543G>T (p.Gly1181=)
n.3916G>T
n.643G>T
c.2712G>T (p.Gly904=)
c.2487G>T (p.Gly829=)
c.3582G>T (p.Gly1194=)
c.1555G>T
c.*878G>T (n.*878G>T)
n.4521G>T
n.3122G>T
c.3633G>T (p.Gly1211=)
c.3681G>T (p.Gly1227=)
c.3741G>T (p.Gly1247=)
c.3291G>T (p.Gly1097=)
c.1593G>T (p.Gly531=)
c.1410G>T (p.Gly470=)
c.3642G>T (p.Gly1214=)
c.3594G>T (p.Gly1198=)
c.3363G>T (p.Gly1121=)
c.3264G>T (p.Gly1088=)
c.2445G>T (p.Gly815=)
n.3996G>T
13g.51937602C>GCA484024351ATP7Bc.*1427G>C (n.*1427G>C)
c.*2521G>C (n.*2521G>C)
c.3156G>C (p.Gly1052=)
c.3777G>C (p.Gly1259=)
c.3444G>C (p.Gly1148=)
c.3525G>C (p.Gly1175=)
n.1018G>C
c.3543G>C (p.Gly1181=)
n.3916G>C
n.643G>C
c.2712G>C (p.Gly904=)
c.2487G>C (p.Gly829=)
c.3582G>C (p.Gly1194=)
c.1555G>C
c.*878G>C (n.*878G>C)
n.4521G>C
n.3122G>C
c.3633G>C (p.Gly1211=)
c.3681G>C (p.Gly1227=)
c.3741G>C (p.Gly1247=)
c.3291G>C (p.Gly1097=)
c.1593G>C (p.Gly531=)
c.1410G>C (p.Gly470=)
c.3642G>C (p.Gly1214=)
c.3594G>C (p.Gly1198=)
c.3363G>C (p.Gly1121=)
c.3264G>C (p.Gly1088=)
c.2445G>C (p.Gly815=)
n.3996G>C
13g.51937602C>TCA484024352ATP7Bc.*1427G>A (n.*1427G>A)
c.*2521G>A (n.*2521G>A)
c.3156G>A (p.Gly1052=)
c.3777G>A (p.Gly1259=)
c.3444G>A (p.Gly1148=)
c.3525G>A (p.Gly1175=)
n.1018G>A
c.3543G>A (p.Gly1181=)
n.3916G>A
n.643G>A
c.2712G>A (p.Gly904=)
c.2487G>A (p.Gly829=)
c.3582G>A (p.Gly1194=)
c.1555G>A
c.*878G>A (n.*878G>A)
n.4521G>A
n.3122G>A
c.3633G>A (p.Gly1211=)
c.3681G>A (p.Gly1227=)
c.3741G>A (p.Gly1247=)
c.3291G>A (p.Gly1097=)
c.1593G>A (p.Gly531=)
c.1410G>A (p.Gly470=)
c.3642G>A (p.Gly1214=)
c.3594G>A (p.Gly1198=)
c.3363G>A (p.Gly1121=)
c.3264G>A (p.Gly1088=)
c.2445G>A (p.Gly815=)
n.3996G>A
13g.51937603C>ACA388022148ATP7Bc.*1426G>T (n.*1426G>T)
c.*2520G>T (n.*2520G>T)
c.3155G>T (p.Gly1052Val)
c.3776G>T (p.Gly1259Val)
c.3443G>T (p.Gly1148Val)
c.3524G>T (p.Gly1175Val)
n.1017G>T
c.3542G>T (p.Gly1181Val)
n.3915G>T
n.642G>T
c.2711G>T (p.Gly904Val)
c.2486G>T (p.Gly829Val)
c.3581G>T (p.Gly1194Val)
c.1554G>T
c.*877G>T (n.*877G>T)
n.4520G>T
n.3121G>T
c.3632G>T (p.Gly1211Val)
c.3680G>T (p.Gly1227Val)
c.3740G>T (p.Gly1247Val)
c.3290G>T (p.Gly1097Val)
c.1592G>T (p.Gly531Val)
c.1409G>T (p.Gly470Val)
c.3641G>T (p.Gly1214Val)
c.3593G>T (p.Gly1198Val)
c.3362G>T (p.Gly1121Val)
c.3263G>T (p.Gly1088Val)
c.2444G>T (p.Gly815Val)
n.3995G>T
 gnomAD v4
13g.51937603C=CA2091554138ATP7Bc.*1426G= (n.*1426G=)
c.*2520G= (n.*2520G=)
c.3155G= (p.Gly1052=)
c.3776G= (p.Gly1259=)
c.3443G= (p.Gly1148=)
c.3524G= (p.Gly1175=)
n.1017G=
c.3542G= (p.Gly1181=)
n.3915G=
n.642G=
c.2711G= (p.Gly904=)
c.2486G= (p.Gly829=)
c.3581G= (p.Gly1194=)
c.1554G=
c.*877G= (n.*877G=)
n.4520G=
n.3121G=
c.3632G= (p.Gly1211=)
c.3680G= (p.Gly1227=)
c.3740G= (p.Gly1247=)
c.3290G= (p.Gly1097=)
c.1592G= (p.Gly531=)
c.1409G= (p.Gly470=)
c.3641G= (p.Gly1214=)
c.3593G= (p.Gly1198=)
c.3362G= (p.Gly1121=)
c.3263G= (p.Gly1088=)
c.2444G= (p.Gly815=)
n.3995G=
13g.51937603C>GCA388022143ATP7Bc.*1426G>C (n.*1426G>C)
c.*2520G>C (n.*2520G>C)
c.3155G>C (p.Gly1052Ala)
c.3776G>C (p.Gly1259Ala)
c.3443G>C (p.Gly1148Ala)
c.3524G>C (p.Gly1175Ala)
n.1017G>C
c.3542G>C (p.Gly1181Ala)
n.3915G>C
n.642G>C
c.2711G>C (p.Gly904Ala)
c.2486G>C (p.Gly829Ala)
c.3581G>C (p.Gly1194Ala)
c.1554G>C
c.*877G>C (n.*877G>C)
n.4520G>C
n.3121G>C
c.3632G>C (p.Gly1211Ala)
c.3680G>C (p.Gly1227Ala)
c.3740G>C (p.Gly1247Ala)
c.3290G>C (p.Gly1097Ala)
c.1592G>C (p.Gly531Ala)
c.1409G>C (p.Gly470Ala)
c.3641G>C (p.Gly1214Ala)
c.3593G>C (p.Gly1198Ala)
c.3362G>C (p.Gly1121Ala)
c.3263G>C (p.Gly1088Ala)
c.2444G>C (p.Gly815Ala)
n.3995G>C
13g.51937603C>TCA388022145ATP7Bc.*1426G>A (n.*1426G>A)
c.*2520G>A (n.*2520G>A)
c.3155G>A (p.Gly1052Glu)
c.3776G>A (p.Gly1259Glu)
c.3443G>A (p.Gly1148Glu)
c.3524G>A (p.Gly1175Glu)
n.1017G>A
c.3542G>A (p.Gly1181Glu)
n.3915G>A
n.642G>A
c.2711G>A (p.Gly904Glu)
c.2486G>A (p.Gly829Glu)
c.3581G>A (p.Gly1194Glu)
c.1554G>A
c.*877G>A (n.*877G>A)
n.4520G>A
n.3121G>A
c.3632G>A (p.Gly1211Glu)
c.3680G>A (p.Gly1227Glu)
c.3740G>A (p.Gly1247Glu)
c.3290G>A (p.Gly1097Glu)
c.1592G>A (p.Gly531Glu)
c.1409G>A (p.Gly470Glu)
c.3641G>A (p.Gly1214Glu)
c.3593G>A (p.Gly1198Glu)
c.3362G>A (p.Gly1121Glu)
c.3263G>A (p.Gly1088Glu)
c.2444G>A (p.Gly815Glu)
n.3995G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937604C>ACA388022152ATP7Bc.*1425G>T (n.*1425G>T)
c.*2519G>T (n.*2519G>T)
c.3154G>T (p.Gly1052Trp)
c.3775G>T (p.Gly1259Trp)
c.3442G>T (p.Gly1148Trp)
c.3523G>T (p.Gly1175Trp)
n.1016G>T
c.3541G>T (p.Gly1181Trp)
n.3914G>T
n.641G>T
c.2710G>T (p.Gly904Trp)
c.2485G>T (p.Gly829Trp)
c.3580G>T (p.Gly1194Trp)
c.1553G>T
c.*876G>T (n.*876G>T)
n.4519G>T
n.3120G>T
c.3631G>T (p.Gly1211Trp)
c.3679G>T (p.Gly1227Trp)
c.3739G>T (p.Gly1247Trp)
c.3289G>T (p.Gly1097Trp)
c.1591G>T (p.Gly531Trp)
c.1408G>T (p.Gly470Trp)
c.3640G>T (p.Gly1214Trp)
c.3592G>T (p.Gly1198Trp)
c.3361G>T (p.Gly1121Trp)
c.3262G>T (p.Gly1088Trp)
c.2443G>T (p.Gly815Trp)
n.3994G>T
13g.51937604C=CA2091554144ATP7Bc.*1425G= (n.*1425G=)
c.*2519G= (n.*2519G=)
c.3154G= (p.Gly1052=)
c.3775G= (p.Gly1259=)
c.3442G= (p.Gly1148=)
c.3523G= (p.Gly1175=)
n.1016G=
c.3541G= (p.Gly1181=)
n.3914G=
n.641G=
c.2710G= (p.Gly904=)
c.2485G= (p.Gly829=)
c.3580G= (p.Gly1194=)
c.1553G=
c.*876G= (n.*876G=)
n.4519G=
n.3120G=
c.3631G= (p.Gly1211=)
c.3679G= (p.Gly1227=)
c.3739G= (p.Gly1247=)
c.3289G= (p.Gly1097=)
c.1591G= (p.Gly531=)
c.1408G= (p.Gly470=)
c.3640G= (p.Gly1214=)
c.3592G= (p.Gly1198=)
c.3361G= (p.Gly1121=)
c.3262G= (p.Gly1088=)
c.2443G= (p.Gly815=)
n.3994G=
13g.51937604C>GCA388022153ATP7Bc.*1425G>C (n.*1425G>C)
c.*2519G>C (n.*2519G>C)
c.3154G>C (p.Gly1052Arg)
c.3775G>C (p.Gly1259Arg)
c.3442G>C (p.Gly1148Arg)
c.3523G>C (p.Gly1175Arg)
n.1016G>C
c.3541G>C (p.Gly1181Arg)
n.3914G>C
n.641G>C
c.2710G>C (p.Gly904Arg)
c.2485G>C (p.Gly829Arg)
c.3580G>C (p.Gly1194Arg)
c.1553G>C
c.*876G>C (n.*876G>C)
n.4519G>C
n.3120G>C
c.3631G>C (p.Gly1211Arg)
c.3679G>C (p.Gly1227Arg)
c.3739G>C (p.Gly1247Arg)
c.3289G>C (p.Gly1097Arg)
c.1591G>C (p.Gly531Arg)
c.1408G>C (p.Gly470Arg)
c.3640G>C (p.Gly1214Arg)
c.3592G>C (p.Gly1198Arg)
c.3361G>C (p.Gly1121Arg)
c.3262G>C (p.Gly1088Arg)
c.2443G>C (p.Gly815Arg)
n.3994G>C
13g.51937604C>TCA6988572ATP7Bc.*1425G>A (n.*1425G>A)
c.*2519G>A (n.*2519G>A)
c.3154G>A (p.Gly1052Arg)
c.3775G>A (p.Gly1259Arg)
c.3442G>A (p.Gly1148Arg)
c.3523G>A (p.Gly1175Arg)
n.1016G>A
c.3541G>A (p.Gly1181Arg)
n.3914G>A
n.641G>A
c.2710G>A (p.Gly904Arg)
c.2485G>A (p.Gly829Arg)
c.3580G>A (p.Gly1194Arg)
c.1553G>A
c.*876G>A (n.*876G>A)
n.4519G>A
n.3120G>A
c.3631G>A (p.Gly1211Arg)
c.3679G>A (p.Gly1227Arg)
c.3739G>A (p.Gly1247Arg)
c.3289G>A (p.Gly1097Arg)
c.1591G>A (p.Gly531Arg)
c.1408G>A (p.Gly470Arg)
c.3640G>A (p.Gly1214Arg)
c.3592G>A (p.Gly1198Arg)
c.3361G>A (p.Gly1121Arg)
c.3262G>A (p.Gly1088Arg)
c.2443G>A (p.Gly815Arg)
n.3994G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937604_51937607dupCA2695199758ATP7Bc.*1422_*1425dup (n.*1422_*1425dup)
c.*2516_*2519dup (n.*2516_*2519dup)
c.3151_3154dup (p.Gly1052GlufsTer14)
c.3772_3775dup (p.Gly1259GlufsTer14)
c.3439_3442dup (p.Gly1148GlufsTer14)
c.3520_3523dup (p.Gly1175GlufsTer14)
n.1013_1016dup
c.3538_3541dup (p.Gly1181GlufsTer14)
n.3911_3914dup
n.638_641dup
c.2707_2710dup (p.Gly904GlufsTer14)
c.2482_2485dup (p.Gly829GlufsTer14)
c.3577_3580dup (p.Gly1194GlufsTer14)
c.1550_1553dup
c.*873_*876dup (n.*873_*876dup)
n.4516_4519dup
n.3117_3120dup
c.3628_3631dup (p.Gly1211GlufsTer14)
c.3676_3679dup (p.Gly1227GlufsTer14)
c.3736_3739dup (p.Gly1247GlufsTer14)
c.3286_3289dup (p.Gly1097GlufsTer14)
c.1588_1591dup (p.Gly531GlufsTer14)
c.1405_1408dup (p.Gly470GlufsTer14)
c.3637_3640dup (p.Gly1214GlufsTer14)
c.3589_3592dup (p.Gly1198GlufsTer14)
c.3358_3361dup (p.Gly1121GlufsTer14)
c.3259_3262dup (p.Gly1088GlufsTer14)
c.2440_2443dup (p.Gly815GlufsTer14)
n.3991_3994dup
 ClinVar
13g.51937605T>ACA388022156ATP7Bc.*1424A>T (n.*1424A>T)
c.*2518A>T (n.*2518A>T)
c.3153A>T (p.Lys1051Asn)
c.3774A>T (p.Lys1258Asn)
c.3441A>T (p.Lys1147Asn)
c.3522A>T (p.Lys1174Asn)
n.1015A>T
c.3540A>T (p.Lys1180Asn)
n.3913A>T
n.640A>T
c.2709A>T (p.Lys903Asn)
c.2484A>T (p.Lys828Asn)
c.3579A>T (p.Lys1193Asn)
c.1552A>T
c.*875A>T (n.*875A>T)
n.4518A>T
n.3119A>T
c.3630A>T (p.Lys1210Asn)
c.3678A>T (p.Lys1226Asn)
c.3738A>T (p.Lys1246Asn)
c.3288A>T (p.Lys1096Asn)
c.1590A>T (p.Lys530Asn)
c.1407A>T (p.Lys469Asn)
c.3639A>T (p.Lys1213Asn)
c.3591A>T (p.Lys1197Asn)
c.3360A>T (p.Lys1120Asn)
c.3261A>T (p.Lys1087Asn)
c.2442A>T (p.Lys814Asn)
n.3993A>T
13g.51937605T>CCA484024625ATP7Bc.*1424A>G (n.*1424A>G)
c.*2518A>G (n.*2518A>G)
c.3153A>G (p.Lys1051=)
c.3774A>G (p.Lys1258=)
c.3441A>G (p.Lys1147=)
c.3522A>G (p.Lys1174=)
n.1015A>G
c.3540A>G (p.Lys1180=)
n.3913A>G
n.640A>G
c.2709A>G (p.Lys903=)
c.2484A>G (p.Lys828=)
c.3579A>G (p.Lys1193=)
c.1552A>G
c.*875A>G (n.*875A>G)
n.4518A>G
n.3119A>G
c.3630A>G (p.Lys1210=)
c.3678A>G (p.Lys1226=)
c.3738A>G (p.Lys1246=)
c.3288A>G (p.Lys1096=)
c.1590A>G (p.Lys530=)
c.1407A>G (p.Lys469=)
c.3639A>G (p.Lys1213=)
c.3591A>G (p.Lys1197=)
c.3360A>G (p.Lys1120=)
c.3261A>G (p.Lys1087=)
c.2442A>G (p.Lys814=)
n.3993A>G
 gnomAD v4
13g.51937605T>GCA388022157ATP7Bc.*1424A>C (n.*1424A>C)
c.*2518A>C (n.*2518A>C)
c.3153A>C (p.Lys1051Asn)
c.3774A>C (p.Lys1258Asn)
c.3441A>C (p.Lys1147Asn)
c.3522A>C (p.Lys1174Asn)
n.1015A>C
c.3540A>C (p.Lys1180Asn)
n.3913A>C
n.640A>C
c.2709A>C (p.Lys903Asn)
c.2484A>C (p.Lys828Asn)
c.3579A>C (p.Lys1193Asn)
c.1552A>C
c.*875A>C (n.*875A>C)
n.4518A>C
n.3119A>C
c.3630A>C (p.Lys1210Asn)
c.3678A>C (p.Lys1226Asn)
c.3738A>C (p.Lys1246Asn)
c.3288A>C (p.Lys1096Asn)
c.1590A>C (p.Lys530Asn)
c.1407A>C (p.Lys469Asn)
c.3639A>C (p.Lys1213Asn)
c.3591A>C (p.Lys1197Asn)
c.3360A>C (p.Lys1120Asn)
c.3261A>C (p.Lys1087Asn)
c.2442A>C (p.Lys814Asn)
n.3993A>C
13g.51937606T>ACA388022159ATP7Bc.*1423A>T (n.*1423A>T)
c.*2517A>T (n.*2517A>T)
c.3152A>T (p.Lys1051Ile)
c.3773A>T (p.Lys1258Ile)
c.3440A>T (p.Lys1147Ile)
c.3521A>T (p.Lys1174Ile)
n.1014A>T
c.3539A>T (p.Lys1180Ile)
n.3912A>T
n.639A>T
c.2708A>T (p.Lys903Ile)
c.2483A>T (p.Lys828Ile)
c.3578A>T (p.Lys1193Ile)
c.1551A>T
c.*874A>T (n.*874A>T)
n.4517A>T
n.3118A>T
c.3629A>T (p.Lys1210Ile)
c.3677A>T (p.Lys1226Ile)
c.3737A>T (p.Lys1246Ile)
c.3287A>T (p.Lys1096Ile)
c.1589A>T (p.Lys530Ile)
c.1406A>T (p.Lys469Ile)
c.3638A>T (p.Lys1213Ile)
c.3590A>T (p.Lys1197Ile)
c.3359A>T (p.Lys1120Ile)
c.3260A>T (p.Lys1087Ile)
c.2441A>T (p.Lys814Ile)
n.3992A>T
13g.51937606T>CCA388022163ATP7Bc.*1423A>G (n.*1423A>G)
c.*2517A>G (n.*2517A>G)
c.3152A>G (p.Lys1051Arg)
c.3773A>G (p.Lys1258Arg)
c.3440A>G (p.Lys1147Arg)
c.3521A>G (p.Lys1174Arg)
n.1014A>G
c.3539A>G (p.Lys1180Arg)
n.3912A>G
n.639A>G
c.2708A>G (p.Lys903Arg)
c.2483A>G (p.Lys828Arg)
c.3578A>G (p.Lys1193Arg)
c.1551A>G
c.*874A>G (n.*874A>G)
n.4517A>G
n.3118A>G
c.3629A>G (p.Lys1210Arg)
c.3677A>G (p.Lys1226Arg)
c.3737A>G (p.Lys1246Arg)
c.3287A>G (p.Lys1096Arg)
c.1589A>G (p.Lys530Arg)
c.1406A>G (p.Lys469Arg)
c.3638A>G (p.Lys1213Arg)
c.3590A>G (p.Lys1197Arg)
c.3359A>G (p.Lys1120Arg)
c.3260A>G (p.Lys1087Arg)
c.2441A>G (p.Lys814Arg)
n.3992A>G
13g.51937606T>GCA388022161ATP7Bc.*1423A>C (n.*1423A>C)
c.*2517A>C (n.*2517A>C)
c.3152A>C (p.Lys1051Thr)
c.3773A>C (p.Lys1258Thr)
c.3440A>C (p.Lys1147Thr)
c.3521A>C (p.Lys1174Thr)
n.1014A>C
c.3539A>C (p.Lys1180Thr)
n.3912A>C
n.639A>C
c.2708A>C (p.Lys903Thr)
c.2483A>C (p.Lys828Thr)
c.3578A>C (p.Lys1193Thr)
c.1551A>C
c.*874A>C (n.*874A>C)
n.4517A>C
n.3118A>C
c.3629A>C (p.Lys1210Thr)
c.3677A>C (p.Lys1226Thr)
c.3737A>C (p.Lys1246Thr)
c.3287A>C (p.Lys1096Thr)
c.1589A>C (p.Lys530Thr)
c.1406A>C (p.Lys469Thr)
c.3638A>C (p.Lys1213Thr)
c.3590A>C (p.Lys1197Thr)
c.3359A>C (p.Lys1120Thr)
c.3260A>C (p.Lys1087Thr)
c.2441A>C (p.Lys814Thr)
n.3992A>C
13g.51937607T>ACA388022165ATP7Bc.*1422A>T (n.*1422A>T)
c.*2516A>T (n.*2516A>T)
c.3151A>T (p.Lys1051Ter)
c.3772A>T (p.Lys1258Ter)
c.3439A>T (p.Lys1147Ter)
c.3520A>T (p.Lys1174Ter)
n.1013A>T
c.3538A>T (p.Lys1180Ter)
n.3911A>T
n.638A>T
c.2707A>T (p.Lys903Ter)
c.2482A>T (p.Lys828Ter)
c.3577A>T (p.Lys1193Ter)
c.1550A>T
c.*873A>T (n.*873A>T)
n.4516A>T
n.3117A>T
c.3628A>T (p.Lys1210Ter)
c.3676A>T (p.Lys1226Ter)
c.3736A>T (p.Lys1246Ter)
c.3286A>T (p.Lys1096Ter)
c.1588A>T (p.Lys530Ter)
c.1405A>T (p.Lys469Ter)
c.3637A>T (p.Lys1213Ter)
c.3589A>T (p.Lys1197Ter)
c.3358A>T (p.Lys1120Ter)
c.3259A>T (p.Lys1087Ter)
c.2440A>T (p.Lys814Ter)
n.3991A>T
 ClinVar dbSNP
13g.51937607T>CCA388022167ATP7Bc.*1422A>G (n.*1422A>G)
c.*2516A>G (n.*2516A>G)
c.3151A>G (p.Lys1051Glu)
c.3772A>G (p.Lys1258Glu)
c.3439A>G (p.Lys1147Glu)
c.3520A>G (p.Lys1174Glu)
n.1013A>G
c.3538A>G (p.Lys1180Glu)
n.3911A>G
n.638A>G
c.2707A>G (p.Lys903Glu)
c.2482A>G (p.Lys828Glu)
c.3577A>G (p.Lys1193Glu)
c.1550A>G
c.*873A>G (n.*873A>G)
n.4516A>G
n.3117A>G
c.3628A>G (p.Lys1210Glu)
c.3676A>G (p.Lys1226Glu)
c.3736A>G (p.Lys1246Glu)
c.3286A>G (p.Lys1096Glu)
c.1588A>G (p.Lys530Glu)
c.1405A>G (p.Lys469Glu)
c.3637A>G (p.Lys1213Glu)
c.3589A>G (p.Lys1197Glu)
c.3358A>G (p.Lys1120Glu)
c.3259A>G (p.Lys1087Glu)
c.2440A>G (p.Lys814Glu)
n.3991A>G
13g.51937607T>GCA388022169ATP7Bc.*1422A>C (n.*1422A>C)
c.*2516A>C (n.*2516A>C)
c.3151A>C (p.Lys1051Gln)
c.3772A>C (p.Lys1258Gln)
c.3439A>C (p.Lys1147Gln)
c.3520A>C (p.Lys1174Gln)
n.1013A>C
c.3538A>C (p.Lys1180Gln)
n.3911A>C
n.638A>C
c.2707A>C (p.Lys903Gln)
c.2482A>C (p.Lys828Gln)
c.3577A>C (p.Lys1193Gln)
c.1550A>C
c.*873A>C (n.*873A>C)
n.4516A>C
n.3117A>C
c.3628A>C (p.Lys1210Gln)
c.3676A>C (p.Lys1226Gln)
c.3736A>C (p.Lys1246Gln)
c.3286A>C (p.Lys1096Gln)
c.1588A>C (p.Lys530Gln)
c.1405A>C (p.Lys469Gln)
c.3637A>C (p.Lys1213Gln)
c.3589A>C (p.Lys1197Gln)
c.3358A>C (p.Lys1120Gln)
c.3259A>C (p.Lys1087Gln)
c.2440A>C (p.Lys814Gln)
n.3991A>C
 gnomAD v4
13g.51937607T=CA2091554147ATP7Bc.*1422A= (n.*1422A=)
c.*2516A= (n.*2516A=)
c.3151A= (p.Lys1051=)
c.3772A= (p.Lys1258=)
c.3439A= (p.Lys1147=)
c.3520A= (p.Lys1174=)
n.1013A=
c.3538A= (p.Lys1180=)
n.3911A=
n.638A=
c.2707A= (p.Lys903=)
c.2482A= (p.Lys828=)
c.3577A= (p.Lys1193=)
c.1550A=
c.*873A= (n.*873A=)
n.4516A=
n.3117A=
c.3628A= (p.Lys1210=)
c.3676A= (p.Lys1226=)
c.3736A= (p.Lys1246=)
c.3286A= (p.Lys1096=)
c.1588A= (p.Lys530=)
c.1405A= (p.Lys469=)
c.3637A= (p.Lys1213=)
c.3589A= (p.Lys1197=)
c.3358A= (p.Lys1120=)
c.3259A= (p.Lys1087=)
c.2440A= (p.Lys814=)
n.3991A=
13g.51937608A>CCA388022172ATP7Bc.*1421T>G (n.*1421T>G)
c.*2515T>G (n.*2515T>G)
c.3150T>G (p.Asn1050Lys)
c.3771T>G (p.Asn1257Lys)
c.3438T>G (p.Asn1146Lys)
c.3519T>G (p.Asn1173Lys)
n.1012T>G
c.3537T>G (p.Asn1179Lys)
n.3910T>G
n.637T>G
c.2706T>G (p.Asn902Lys)
c.2481T>G (p.Asn827Lys)
c.3576T>G (p.Asn1192Lys)
c.1549T>G
c.*872T>G (n.*872T>G)
n.4515T>G
n.3116T>G
c.3627T>G (p.Asn1209Lys)
c.3675T>G (p.Asn1225Lys)
c.3735T>G (p.Asn1245Lys)
c.3285T>G (p.Asn1095Lys)
c.1587T>G (p.Asn529Lys)
c.1404T>G (p.Asn468Lys)
c.3636T>G (p.Asn1212Lys)
c.3588T>G (p.Asn1196Lys)
c.3357T>G (p.Asn1119Lys)
c.3258T>G (p.Asn1086Lys)
c.2439T>G (p.Asn813Lys)
n.3990T>G
13g.51937608A>GCA484024631ATP7Bc.*1421T>C (n.*1421T>C)
c.*2515T>C (n.*2515T>C)
c.3150T>C (p.Asn1050=)
c.3771T>C (p.Asn1257=)
c.3438T>C (p.Asn1146=)
c.3519T>C (p.Asn1173=)
n.1012T>C
c.3537T>C (p.Asn1179=)
n.3910T>C
n.637T>C
c.2706T>C (p.Asn902=)
c.2481T>C (p.Asn827=)
c.3576T>C (p.Asn1192=)
c.1549T>C
c.*872T>C (n.*872T>C)
n.4515T>C
n.3116T>C
c.3627T>C (p.Asn1209=)
c.3675T>C (p.Asn1225=)
c.3735T>C (p.Asn1245=)
c.3285T>C (p.Asn1095=)
c.1587T>C (p.Asn529=)
c.1404T>C (p.Asn468=)
c.3636T>C (p.Asn1212=)
c.3588T>C (p.Asn1196=)
c.3357T>C (p.Asn1119=)
c.3258T>C (p.Asn1086=)
c.2439T>C (p.Asn813=)
n.3990T>C
13g.51937608A>TCA388022175ATP7Bc.*1421T>A (n.*1421T>A)
c.*2515T>A (n.*2515T>A)
c.3150T>A (p.Asn1050Lys)
c.3771T>A (p.Asn1257Lys)
c.3438T>A (p.Asn1146Lys)
c.3519T>A (p.Asn1173Lys)
n.1012T>A
c.3537T>A (p.Asn1179Lys)
n.3910T>A
n.637T>A
c.2706T>A (p.Asn902Lys)
c.2481T>A (p.Asn827Lys)
c.3576T>A (p.Asn1192Lys)
c.1549T>A
c.*872T>A (n.*872T>A)
n.4515T>A
n.3116T>A
c.3627T>A (p.Asn1209Lys)
c.3675T>A (p.Asn1225Lys)
c.3735T>A (p.Asn1245Lys)
c.3285T>A (p.Asn1095Lys)
c.1587T>A (p.Asn529Lys)
c.1404T>A (p.Asn468Lys)
c.3636T>A (p.Asn1212Lys)
c.3588T>A (p.Asn1196Lys)
c.3357T>A (p.Asn1119Lys)
c.3258T>A (p.Asn1086Lys)
c.2439T>A (p.Asn813Lys)
n.3990T>A
 gnomAD v4
13g.51937608_51937609insCCA2695218764ATP7Bc.*1420_*1421insG (n.*1420_*1421insG)
c.*2514_*2515insG (n.*2514_*2515insG)
c.3149_3150insG (p.Asn1050LysfsTer2)
c.3770_3771insG (p.Asn1257LysfsTer2)
c.3437_3438insG (p.Asn1146LysfsTer2)
c.3518_3519insG (p.Asn1173LysfsTer2)
n.1011_1012insG
c.3536_3537insG (p.Asn1179LysfsTer2)
n.3909_3910insG
n.636_637insG
c.2705_2706insG (p.Asn902LysfsTer2)
c.2480_2481insG (p.Asn827LysfsTer2)
c.3575_3576insG (p.Asn1192LysfsTer2)
c.1548_1549insG
c.*871_*872insG (n.*871_*872insG)
n.4514_4515insG
n.3115_3116insG
c.3626_3627insG (p.Asn1209LysfsTer2)
c.3674_3675insG (p.Asn1225LysfsTer2)
c.3734_3735insG (p.Asn1245LysfsTer2)
c.3284_3285insG (p.Asn1095LysfsTer2)
c.1586_1587insG (p.Asn529LysfsTer2)
c.1403_1404insG (p.Asn468LysfsTer2)
c.3635_3636insG (p.Asn1212LysfsTer2)
c.3587_3588insG (p.Asn1196LysfsTer2)
c.3356_3357insG (p.Asn1119LysfsTer2)
c.3257_3258insG (p.Asn1086LysfsTer2)
c.2438_2439insG (p.Asn813LysfsTer2)
n.3989_3990insG
13g.51937609T>ACA388022176ATP7Bc.*1420A>T (n.*1420A>T)
c.*2514A>T (n.*2514A>T)
c.3149A>T (p.Asn1050Ile)
c.3770A>T (p.Asn1257Ile)
c.3437A>T (p.Asn1146Ile)
c.3518A>T (p.Asn1173Ile)
n.1011A>T
c.3536A>T (p.Asn1179Ile)
n.3909A>T
n.636A>T
c.2705A>T (p.Asn902Ile)
c.2480A>T (p.Asn827Ile)
c.3575A>T (p.Asn1192Ile)
c.1548A>T
c.*871A>T (n.*871A>T)
n.4514A>T
n.3115A>T
c.3626A>T (p.Asn1209Ile)
c.3674A>T (p.Asn1225Ile)
c.3734A>T (p.Asn1245Ile)
c.3284A>T (p.Asn1095Ile)
c.1586A>T (p.Asn529Ile)
c.1403A>T (p.Asn468Ile)
c.3635A>T (p.Asn1212Ile)
c.3587A>T (p.Asn1196Ile)
c.3356A>T (p.Asn1119Ile)
c.3257A>T (p.Asn1086Ile)
c.2438A>T (p.Asn813Ile)
n.3989A>T
13g.51937609T>CCA388022179ATP7Bc.*1420A>G (n.*1420A>G)
c.*2514A>G (n.*2514A>G)
c.3149A>G (p.Asn1050Ser)
c.3770A>G (p.Asn1257Ser)
c.3437A>G (p.Asn1146Ser)
c.3518A>G (p.Asn1173Ser)
n.1011A>G
c.3536A>G (p.Asn1179Ser)
n.3909A>G
n.636A>G
c.2705A>G (p.Asn902Ser)
c.2480A>G (p.Asn827Ser)
c.3575A>G (p.Asn1192Ser)
c.1548A>G
c.*871A>G (n.*871A>G)
n.4514A>G
n.3115A>G
c.3626A>G (p.Asn1209Ser)
c.3674A>G (p.Asn1225Ser)
c.3734A>G (p.Asn1245Ser)
c.3284A>G (p.Asn1095Ser)
c.1586A>G (p.Asn529Ser)
c.1403A>G (p.Asn468Ser)
c.3635A>G (p.Asn1212Ser)
c.3587A>G (p.Asn1196Ser)
c.3356A>G (p.Asn1119Ser)
c.3257A>G (p.Asn1086Ser)
c.2438A>G (p.Asn813Ser)
n.3989A>G
 dbSNP
13g.51937609T>GCA388022182ATP7Bc.*1420A>C (n.*1420A>C)
c.*2514A>C (n.*2514A>C)
c.3149A>C (p.Asn1050Thr)
c.3770A>C (p.Asn1257Thr)
c.3437A>C (p.Asn1146Thr)
c.3518A>C (p.Asn1173Thr)
n.1011A>C
c.3536A>C (p.Asn1179Thr)
n.3909A>C
n.636A>C
c.2705A>C (p.Asn902Thr)
c.2480A>C (p.Asn827Thr)
c.3575A>C (p.Asn1192Thr)
c.1548A>C
c.*871A>C (n.*871A>C)
n.4514A>C
n.3115A>C
c.3626A>C (p.Asn1209Thr)
c.3674A>C (p.Asn1225Thr)
c.3734A>C (p.Asn1245Thr)
c.3284A>C (p.Asn1095Thr)
c.1586A>C (p.Asn529Thr)
c.1403A>C (p.Asn468Thr)
c.3635A>C (p.Asn1212Thr)
c.3587A>C (p.Asn1196Thr)
c.3356A>C (p.Asn1119Thr)
c.3257A>C (p.Asn1086Thr)
c.2438A>C (p.Asn813Thr)
n.3989A>C
13g.51937609T=CA2091554148ATP7Bc.*1420A= (n.*1420A=)
c.*2514A= (n.*2514A=)
c.3149A= (p.Asn1050=)
c.3770A= (p.Asn1257=)
c.3437A= (p.Asn1146=)
c.3518A= (p.Asn1173=)
n.1011A=
c.3536A= (p.Asn1179=)
n.3909A=
n.636A=
c.2705A= (p.Asn902=)
c.2480A= (p.Asn827=)
c.3575A= (p.Asn1192=)
c.1548A=
c.*871A= (n.*871A=)
n.4514A=
n.3115A=
c.3626A= (p.Asn1209=)
c.3674A= (p.Asn1225=)
c.3734A= (p.Asn1245=)
c.3284A= (p.Asn1095=)
c.1586A= (p.Asn529=)
c.1403A= (p.Asn468=)
c.3635A= (p.Asn1212=)
c.3587A= (p.Asn1196=)
c.3356A= (p.Asn1119=)
c.3257A= (p.Asn1086=)
c.2438A= (p.Asn813=)
n.3989A=
13g.51937610T>ACA388022184ATP7Bc.*1419A>T (n.*1419A>T)
c.*2513A>T (n.*2513A>T)
c.3148A>T (p.Asn1050Tyr)
c.3769A>T (p.Asn1257Tyr)
c.3436A>T (p.Asn1146Tyr)
c.3517A>T (p.Asn1173Tyr)
n.1010A>T
c.3535A>T (p.Asn1179Tyr)
n.3908A>T
n.635A>T
c.2704A>T (p.Asn902Tyr)
c.2479A>T (p.Asn827Tyr)
c.3574A>T (p.Asn1192Tyr)
c.1547A>T
c.*870A>T (n.*870A>T)
n.4513A>T
n.3114A>T
c.3625A>T (p.Asn1209Tyr)
c.3673A>T (p.Asn1225Tyr)
c.3733A>T (p.Asn1245Tyr)
c.3283A>T (p.Asn1095Tyr)
c.1585A>T (p.Asn529Tyr)
c.1402A>T (p.Asn468Tyr)
c.3634A>T (p.Asn1212Tyr)
c.3586A>T (p.Asn1196Tyr)
c.3355A>T (p.Asn1119Tyr)
c.3256A>T (p.Asn1086Tyr)
c.2437A>T (p.Asn813Tyr)
n.3988A>T
13g.51937610T>CCA388022186ATP7Bc.*1419A>G (n.*1419A>G)
c.*2513A>G (n.*2513A>G)
c.3148A>G (p.Asn1050Asp)
c.3769A>G (p.Asn1257Asp)
c.3436A>G (p.Asn1146Asp)
c.3517A>G (p.Asn1173Asp)
n.1010A>G
c.3535A>G (p.Asn1179Asp)
n.3908A>G
n.635A>G
c.2704A>G (p.Asn902Asp)
c.2479A>G (p.Asn827Asp)
c.3574A>G (p.Asn1192Asp)
c.1547A>G
c.*870A>G (n.*870A>G)
n.4513A>G
n.3114A>G
c.3625A>G (p.Asn1209Asp)
c.3673A>G (p.Asn1225Asp)
c.3733A>G (p.Asn1245Asp)
c.3283A>G (p.Asn1095Asp)
c.1585A>G (p.Asn529Asp)
c.1402A>G (p.Asn468Asp)
c.3634A>G (p.Asn1212Asp)
c.3586A>G (p.Asn1196Asp)
c.3355A>G (p.Asn1119Asp)
c.3256A>G (p.Asn1086Asp)
c.2437A>G (p.Asn813Asp)
n.3988A>G
13g.51937610T>GCA388022189ATP7Bc.*1419A>C (n.*1419A>C)
c.*2513A>C (n.*2513A>C)
c.3148A>C (p.Asn1050His)
c.3769A>C (p.Asn1257His)
c.3436A>C (p.Asn1146His)
c.3517A>C (p.Asn1173His)
n.1010A>C
c.3535A>C (p.Asn1179His)
n.3908A>C
n.635A>C
c.2704A>C (p.Asn902His)
c.2479A>C (p.Asn827His)
c.3574A>C (p.Asn1192His)
c.1547A>C
c.*870A>C (n.*870A>C)
n.4513A>C
n.3114A>C
c.3625A>C (p.Asn1209His)
c.3673A>C (p.Asn1225His)
c.3733A>C (p.Asn1245His)
c.3283A>C (p.Asn1095His)
c.1585A>C (p.Asn529His)
c.1402A>C (p.Asn468His)
c.3634A>C (p.Asn1212His)
c.3586A>C (p.Asn1196His)
c.3355A>C (p.Asn1119His)
c.3256A>C (p.Asn1086His)
c.2437A>C (p.Asn813His)
n.3988A>C
13g.51937611C>ACA388022191ATP7Bc.*1418G>T (n.*1418G>T)
c.*2512G>T (n.*2512G>T)
c.3147G>T (p.Gln1049His)
c.3768G>T (p.Gln1256His)
c.3435G>T (p.Gln1145His)
c.3516G>T (p.Gln1172His)
n.1009G>T
c.3534G>T (p.Gln1178His)
n.3907G>T
n.634G>T
c.2703G>T (p.Gln901His)
c.2478G>T (p.Gln826His)
c.3573G>T (p.Gln1191His)
c.1546G>T
c.*869G>T (n.*869G>T)
n.4512G>T
n.3113G>T
c.3624G>T (p.Gln1208His)
c.3672G>T (p.Gln1224His)
c.3732G>T (p.Gln1244His)
c.3282G>T (p.Gln1094His)
c.1584G>T (p.Gln528His)
c.1401G>T (p.Gln467His)
c.3633G>T (p.Gln1211His)
c.3585G>T (p.Gln1195His)
c.3354G>T (p.Gln1118His)
c.3255G>T (p.Gln1085His)
c.2436G>T (p.Gln812His)
n.3987G>T
13g.51937611C=CA2091554150ATP7Bc.*1418G= (n.*1418G=)
c.*2512G= (n.*2512G=)
c.3147G= (p.Gln1049=)
c.3768G= (p.Gln1256=)
c.3435G= (p.Gln1145=)
c.3516G= (p.Gln1172=)
n.1009G=
c.3534G= (p.Gln1178=)
n.3907G=
n.634G=
c.2703G= (p.Gln901=)
c.2478G= (p.Gln826=)
c.3573G= (p.Gln1191=)
c.1546G=
c.*869G= (n.*869G=)
n.4512G=
n.3113G=
c.3624G= (p.Gln1208=)
c.3672G= (p.Gln1224=)
c.3732G= (p.Gln1244=)
c.3282G= (p.Gln1094=)
c.1584G= (p.Gln528=)
c.1401G= (p.Gln467=)
c.3633G= (p.Gln1211=)
c.3585G= (p.Gln1195=)
c.3354G= (p.Gln1118=)
c.3255G= (p.Gln1085=)
c.2436G= (p.Gln812=)
n.3987G=
13g.51937611C>GCA388022192ATP7Bc.*1418G>C (n.*1418G>C)
c.*2512G>C (n.*2512G>C)
c.3147G>C (p.Gln1049His)
c.3768G>C (p.Gln1256His)
c.3435G>C (p.Gln1145His)
c.3516G>C (p.Gln1172His)
n.1009G>C
c.3534G>C (p.Gln1178His)
n.3907G>C
n.634G>C
c.2703G>C (p.Gln901His)
c.2478G>C (p.Gln826His)
c.3573G>C (p.Gln1191His)
c.1546G>C
c.*869G>C (n.*869G>C)
n.4512G>C
n.3113G>C
c.3624G>C (p.Gln1208His)
c.3672G>C (p.Gln1224His)
c.3732G>C (p.Gln1244His)
c.3282G>C (p.Gln1094His)
c.1584G>C (p.Gln528His)
c.1401G>C (p.Gln467His)
c.3633G>C (p.Gln1211His)
c.3585G>C (p.Gln1195His)
c.3354G>C (p.Gln1118His)
c.3255G>C (p.Gln1085His)
c.2436G>C (p.Gln812His)
n.3987G>C
13g.51937611C>TCA484024636ATP7Bc.*1418G>A (n.*1418G>A)
c.*2512G>A (n.*2512G>A)
c.3147G>A (p.Gln1049=)
c.3768G>A (p.Gln1256=)
c.3435G>A (p.Gln1145=)
c.3516G>A (p.Gln1172=)
n.1009G>A
c.3534G>A (p.Gln1178=)
n.3907G>A
n.634G>A
c.2703G>A (p.Gln901=)
c.2478G>A (p.Gln826=)
c.3573G>A (p.Gln1191=)
c.1546G>A
c.*869G>A (n.*869G>A)
n.4512G>A
n.3113G>A
c.3624G>A (p.Gln1208=)
c.3672G>A (p.Gln1224=)
c.3732G>A (p.Gln1244=)
c.3282G>A (p.Gln1094=)
c.1584G>A (p.Gln528=)
c.1401G>A (p.Gln467=)
c.3633G>A (p.Gln1211=)
c.3585G>A (p.Gln1195=)
c.3354G>A (p.Gln1118=)
c.3255G>A (p.Gln1085=)
c.2436G>A (p.Gln812=)
n.3987G>A
13g.51937612T>ACA388022195ATP7Bc.*1417A>T (n.*1417A>T)
c.*2511A>T (n.*2511A>T)
c.3146A>T (p.Gln1049Leu)
c.3767A>T (p.Gln1256Leu)
c.3434A>T (p.Gln1145Leu)
c.3515A>T (p.Gln1172Leu)
n.1008A>T
c.3533A>T (p.Gln1178Leu)
n.3906A>T
n.633A>T
c.2702A>T (p.Gln901Leu)
c.2477A>T (p.Gln826Leu)
c.3572A>T (p.Gln1191Leu)
c.1545A>T
c.*868A>T (n.*868A>T)
n.4511A>T
n.3112A>T
c.3623A>T (p.Gln1208Leu)
c.3671A>T (p.Gln1224Leu)
c.3731A>T (p.Gln1244Leu)
c.3281A>T (p.Gln1094Leu)
c.1583A>T (p.Gln528Leu)
c.1400A>T (p.Gln467Leu)
c.3632A>T (p.Gln1211Leu)
c.3584A>T (p.Gln1195Leu)
c.3353A>T (p.Gln1118Leu)
c.3254A>T (p.Gln1085Leu)
c.2435A>T (p.Gln812Leu)
n.3986A>T
13g.51937612T>CCA388022193ATP7Bc.*1417A>G (n.*1417A>G)
c.*2511A>G (n.*2511A>G)
c.3146A>G (p.Gln1049Arg)
c.3767A>G (p.Gln1256Arg)
c.3434A>G (p.Gln1145Arg)
c.3515A>G (p.Gln1172Arg)
n.1008A>G
c.3533A>G (p.Gln1178Arg)
n.3906A>G
n.633A>G
c.2702A>G (p.Gln901Arg)
c.2477A>G (p.Gln826Arg)
c.3572A>G (p.Gln1191Arg)
c.1545A>G
c.*868A>G (n.*868A>G)
n.4511A>G
n.3112A>G
c.3623A>G (p.Gln1208Arg)
c.3671A>G (p.Gln1224Arg)
c.3731A>G (p.Gln1244Arg)
c.3281A>G (p.Gln1094Arg)
c.1583A>G (p.Gln528Arg)
c.1400A>G (p.Gln467Arg)
c.3632A>G (p.Gln1211Arg)
c.3584A>G (p.Gln1195Arg)
c.3353A>G (p.Gln1118Arg)
c.3254A>G (p.Gln1085Arg)
c.2435A>G (p.Gln812Arg)
n.3986A>G
 ClinVar dbSNP
13g.51937612T>GCA388022194ATP7Bc.*1417A>C (n.*1417A>C)
c.*2511A>C (n.*2511A>C)
c.3146A>C (p.Gln1049Pro)
c.3767A>C (p.Gln1256Pro)
c.3434A>C (p.Gln1145Pro)
c.3515A>C (p.Gln1172Pro)
n.1008A>C
c.3533A>C (p.Gln1178Pro)
n.3906A>C
n.633A>C
c.2702A>C (p.Gln901Pro)
c.2477A>C (p.Gln826Pro)
c.3572A>C (p.Gln1191Pro)
c.1545A>C
c.*868A>C (n.*868A>C)
n.4511A>C
n.3112A>C
c.3623A>C (p.Gln1208Pro)
c.3671A>C (p.Gln1224Pro)
c.3731A>C (p.Gln1244Pro)
c.3281A>C (p.Gln1094Pro)
c.1583A>C (p.Gln528Pro)
c.1400A>C (p.Gln467Pro)
c.3632A>C (p.Gln1211Pro)
c.3584A>C (p.Gln1195Pro)
c.3353A>C (p.Gln1118Pro)
c.3254A>C (p.Gln1085Pro)
c.2435A>C (p.Gln812Pro)
n.3986A>C
13g.51937612T=CA2091554157ATP7Bc.*1417A= (n.*1417A=)
c.*2511A= (n.*2511A=)
c.3146A= (p.Gln1049=)
c.3767A= (p.Gln1256=)
c.3434A= (p.Gln1145=)
c.3515A= (p.Gln1172=)
n.1008A=
c.3533A= (p.Gln1178=)
n.3906A=
n.633A=
c.2702A= (p.Gln901=)
c.2477A= (p.Gln826=)
c.3572A= (p.Gln1191=)
c.1545A=
c.*868A= (n.*868A=)
n.4511A=
n.3112A=
c.3623A= (p.Gln1208=)
c.3671A= (p.Gln1224=)
c.3731A= (p.Gln1244=)
c.3281A= (p.Gln1094=)
c.1583A= (p.Gln528=)
c.1400A= (p.Gln467=)
c.3632A= (p.Gln1211=)
c.3584A= (p.Gln1195=)
c.3353A= (p.Gln1118=)
c.3254A= (p.Gln1085=)
c.2435A= (p.Gln812=)
n.3986A=
13g.51937612_51937613dupCA1139663298ATP7Bc.*1416_*1417dup (n.*1416_*1417dup)
c.*2510_*2511dup (n.*2510_*2511dup)
c.3145_3146dup (p.Gln1049HisfsTer?)
c.3766_3767dup (p.Gln1256HisfsTer?)
c.3433_3434dup (p.Gln1145HisfsTer?)
c.3514_3515dup (p.Gln1172HisfsTer?)
n.1007_1008dup
c.3532_3533dup (p.Gln1178HisfsTer?)
n.3905_3906dup
n.632_633dup
c.2701_2702dup (p.Gln901HisfsTer?)
c.2476_2477dup (p.Gln826HisfsTer?)
c.3571_3572dup (p.Gln1191HisfsTer?)
c.1544_1545dup
c.*867_*868dup (n.*867_*868dup)
n.4510_4511dup
n.3111_3112dup
c.3622_3623dup (p.Gln1208HisfsTer?)
c.3670_3671dup (p.Gln1224HisfsTer?)
c.3730_3731dup (p.Gln1244HisfsTer?)
c.3280_3281dup (p.Gln1094HisfsTer?)
c.1582_1583dup (p.Gln528HisfsTer?)
c.1399_1400dup (p.Gln467HisfsTer?)
c.3631_3632dup (p.Gln1211HisfsTer?)
c.3583_3584dup (p.Gln1195HisfsTer?)
c.3352_3353dup (p.Gln1118HisfsTer?)
c.3253_3254dup (p.Gln1085HisfsTer?)
c.2434_2435dup (p.Gln812HisfsTer?)
n.3985_3986dup
 ClinVar dbSNP
13g.51937613G>ACA388022198ATP7Bc.*1416C>T (n.*1416C>T)
c.*2510C>T (n.*2510C>T)
c.3145C>T (p.Gln1049Ter)
c.3766C>T (p.Gln1256Ter)
c.3433C>T (p.Gln1145Ter)
c.3514C>T (p.Gln1172Ter)
n.1007C>T
c.3532C>T (p.Gln1178Ter)
n.3905C>T
n.632C>T
c.2701C>T (p.Gln901Ter)
c.2476C>T (p.Gln826Ter)
c.3571C>T (p.Gln1191Ter)
c.1544C>T
c.*867C>T (n.*867C>T)
n.4510C>T
n.3111C>T
c.3622C>T (p.Gln1208Ter)
c.3670C>T (p.Gln1224Ter)
c.3730C>T (p.Gln1244Ter)
c.3280C>T (p.Gln1094Ter)
c.1582C>T (p.Gln528Ter)
c.1399C>T (p.Gln467Ter)
c.3631C>T (p.Gln1211Ter)
c.3583C>T (p.Gln1195Ter)
c.3352C>T (p.Gln1118Ter)
c.3253C>T (p.Gln1085Ter)
c.2434C>T (p.Gln812Ter)
n.3985C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937613G>CCA388022200ATP7Bc.*1416C>G (n.*1416C>G)
c.*2510C>G (n.*2510C>G)
c.3145C>G (p.Gln1049Glu)
c.3766C>G (p.Gln1256Glu)
c.3433C>G (p.Gln1145Glu)
c.3514C>G (p.Gln1172Glu)
n.1007C>G
c.3532C>G (p.Gln1178Glu)
n.3905C>G
n.632C>G
c.2701C>G (p.Gln901Glu)
c.2476C>G (p.Gln826Glu)
c.3571C>G (p.Gln1191Glu)
c.1544C>G
c.*867C>G (n.*867C>G)
n.4510C>G
n.3111C>G
c.3622C>G (p.Gln1208Glu)
c.3670C>G (p.Gln1224Glu)
c.3730C>G (p.Gln1244Glu)
c.3280C>G (p.Gln1094Glu)
c.1582C>G (p.Gln528Glu)
c.1399C>G (p.Gln467Glu)
c.3631C>G (p.Gln1211Glu)
c.3583C>G (p.Gln1195Glu)
c.3352C>G (p.Gln1118Glu)
c.3253C>G (p.Gln1085Glu)
c.2434C>G (p.Gln812Glu)
n.3985C>G
13g.51937613G=CA2091554159ATP7Bc.*1416C= (n.*1416C=)
c.*2510C= (n.*2510C=)
c.3145C= (p.Gln1049=)
c.3766C= (p.Gln1256=)
c.3433C= (p.Gln1145=)
c.3514C= (p.Gln1172=)
n.1007C=
c.3532C= (p.Gln1178=)
n.3905C=
n.632C=
c.2701C= (p.Gln901=)
c.2476C= (p.Gln826=)
c.3571C= (p.Gln1191=)
c.1544C=
c.*867C= (n.*867C=)
n.4510C=
n.3111C=
c.3622C= (p.Gln1208=)
c.3670C= (p.Gln1224=)
c.3730C= (p.Gln1244=)
c.3280C= (p.Gln1094=)
c.1582C= (p.Gln528=)
c.1399C= (p.Gln467=)
c.3631C= (p.Gln1211=)
c.3583C= (p.Gln1195=)
c.3352C= (p.Gln1118=)
c.3253C= (p.Gln1085=)
c.2434C= (p.Gln812=)
n.3985C=
13g.51937613G>TCA388022203ATP7Bc.*1416C>A (n.*1416C>A)
c.*2510C>A (n.*2510C>A)
c.3145C>A (p.Gln1049Lys)
c.3766C>A (p.Gln1256Lys)
c.3433C>A (p.Gln1145Lys)
c.3514C>A (p.Gln1172Lys)
n.1007C>A
c.3532C>A (p.Gln1178Lys)
n.3905C>A
n.632C>A
c.2701C>A (p.Gln901Lys)
c.2476C>A (p.Gln826Lys)
c.3571C>A (p.Gln1191Lys)
c.1544C>A
c.*867C>A (n.*867C>A)
n.4510C>A
n.3111C>A
c.3622C>A (p.Gln1208Lys)
c.3670C>A (p.Gln1224Lys)
c.3730C>A (p.Gln1244Lys)
c.3280C>A (p.Gln1094Lys)
c.1582C>A (p.Gln528Lys)
c.1399C>A (p.Gln467Lys)
c.3631C>A (p.Gln1211Lys)
c.3583C>A (p.Gln1195Lys)
c.3352C>A (p.Gln1118Lys)
c.3253C>A (p.Gln1085Lys)
c.2434C>A (p.Gln812Lys)
n.3985C>A
13g.51937614G>ACA484024640ATP7Bc.*1415C>T (n.*1415C>T)
c.*2509C>T (n.*2509C>T)
c.3144C>T (p.Leu1048=)
c.3765C>T (p.Leu1255=)
c.3432C>T (p.Leu1144=)
c.3513C>T (p.Leu1171=)
n.1006C>T
c.3531C>T (p.Leu1177=)
n.3904C>T
n.631C>T
c.2700C>T (p.Leu900=)
c.2475C>T (p.Leu825=)
c.3570C>T (p.Leu1190=)
c.1543C>T
c.*866C>T (n.*866C>T)
n.4509C>T
n.3110C>T
c.3621C>T (p.Leu1207=)
c.3669C>T (p.Leu1223=)
c.3729C>T (p.Leu1243=)
c.3279C>T (p.Leu1093=)
c.1581C>T (p.Leu527=)
c.1398C>T (p.Leu466=)
c.3630C>T (p.Leu1210=)
c.3582C>T (p.Leu1194=)
c.3351C>T (p.Leu1117=)
c.3252C>T (p.Leu1084=)
c.2433C>T (p.Leu811=)
n.3984C>T
13g.51937614G>CCA484024642ATP7Bc.*1415C>G (n.*1415C>G)
c.*2509C>G (n.*2509C>G)
c.3144C>G (p.Leu1048=)
c.3765C>G (p.Leu1255=)
c.3432C>G (p.Leu1144=)
c.3513C>G (p.Leu1171=)
n.1006C>G
c.3531C>G (p.Leu1177=)
n.3904C>G
n.631C>G
c.2700C>G (p.Leu900=)
c.2475C>G (p.Leu825=)
c.3570C>G (p.Leu1190=)
c.1543C>G
c.*866C>G (n.*866C>G)
n.4509C>G
n.3110C>G
c.3621C>G (p.Leu1207=)
c.3669C>G (p.Leu1223=)
c.3729C>G (p.Leu1243=)
c.3279C>G (p.Leu1093=)
c.1581C>G (p.Leu527=)
c.1398C>G (p.Leu466=)
c.3630C>G (p.Leu1210=)
c.3582C>G (p.Leu1194=)
c.3351C>G (p.Leu1117=)
c.3252C>G (p.Leu1084=)
c.2433C>G (p.Leu811=)
n.3984C>G
13g.51937614G>TCA484024641ATP7Bc.*1415C>A (n.*1415C>A)
c.*2509C>A (n.*2509C>A)
c.3144C>A (p.Leu1048=)
c.3765C>A (p.Leu1255=)
c.3432C>A (p.Leu1144=)
c.3513C>A (p.Leu1171=)
n.1006C>A
c.3531C>A (p.Leu1177=)
n.3904C>A
n.631C>A
c.2700C>A (p.Leu900=)
c.2475C>A (p.Leu825=)
c.3570C>A (p.Leu1190=)
c.1543C>A
c.*866C>A (n.*866C>A)
n.4509C>A
n.3110C>A
c.3621C>A (p.Leu1207=)
c.3669C>A (p.Leu1223=)
c.3729C>A (p.Leu1243=)
c.3279C>A (p.Leu1093=)
c.1581C>A (p.Leu527=)
c.1398C>A (p.Leu466=)
c.3630C>A (p.Leu1210=)
c.3582C>A (p.Leu1194=)
c.3351C>A (p.Leu1117=)
c.3252C>A (p.Leu1084=)
c.2433C>A (p.Leu811=)
n.3984C>A
13g.51937615A>CCA388022206ATP7Bc.*1414T>G (n.*1414T>G)
c.*2508T>G (n.*2508T>G)
c.3143T>G (p.Leu1048Arg)
c.3764T>G (p.Leu1255Arg)
c.3431T>G (p.Leu1144Arg)
c.3512T>G (p.Leu1171Arg)
n.1005T>G
c.3530T>G (p.Leu1177Arg)
n.3903T>G
n.630T>G
c.2699T>G (p.Leu900Arg)
c.2474T>G (p.Leu825Arg)
c.3569T>G (p.Leu1190Arg)
c.1542T>G
c.*865T>G (n.*865T>G)
n.4508T>G
n.3109T>G
c.3620T>G (p.Leu1207Arg)
c.3668T>G (p.Leu1223Arg)
c.3728T>G (p.Leu1243Arg)
c.3278T>G (p.Leu1093Arg)
c.1580T>G (p.Leu527Arg)
c.1397T>G (p.Leu466Arg)
c.3629T>G (p.Leu1210Arg)
c.3581T>G (p.Leu1194Arg)
c.3350T>G (p.Leu1117Arg)
c.3251T>G (p.Leu1084Arg)
c.2432T>G (p.Leu811Arg)
n.3983T>G
13g.51937615A>GCA388022208ATP7Bc.*1414T>C (n.*1414T>C)
c.*2508T>C (n.*2508T>C)
c.3143T>C (p.Leu1048Pro)
c.3764T>C (p.Leu1255Pro)
c.3431T>C (p.Leu1144Pro)
c.3512T>C (p.Leu1171Pro)
n.1005T>C
c.3530T>C (p.Leu1177Pro)
n.3903T>C
n.630T>C
c.2699T>C (p.Leu900Pro)
c.2474T>C (p.Leu825Pro)
c.3569T>C (p.Leu1190Pro)
c.1542T>C
c.*865T>C (n.*865T>C)
n.4508T>C
n.3109T>C
c.3620T>C (p.Leu1207Pro)
c.3668T>C (p.Leu1223Pro)
c.3728T>C (p.Leu1243Pro)
c.3278T>C (p.Leu1093Pro)
c.1580T>C (p.Leu527Pro)
c.1397T>C (p.Leu466Pro)
c.3629T>C (p.Leu1210Pro)
c.3581T>C (p.Leu1194Pro)
c.3350T>C (p.Leu1117Pro)
c.3251T>C (p.Leu1084Pro)
c.2432T>C (p.Leu811Pro)
n.3983T>C
13g.51937615A>TCA388022211ATP7Bc.*1414T>A (n.*1414T>A)
c.*2508T>A (n.*2508T>A)
c.3143T>A (p.Leu1048His)
c.3764T>A (p.Leu1255His)
c.3431T>A (p.Leu1144His)
c.3512T>A (p.Leu1171His)
n.1005T>A
c.3530T>A (p.Leu1177His)
n.3903T>A
n.630T>A
c.2699T>A (p.Leu900His)
c.2474T>A (p.Leu825His)
c.3569T>A (p.Leu1190His)
c.1542T>A
c.*865T>A (n.*865T>A)
n.4508T>A
n.3109T>A
c.3620T>A (p.Leu1207His)
c.3668T>A (p.Leu1223His)
c.3728T>A (p.Leu1243His)
c.3278T>A (p.Leu1093His)
c.1580T>A (p.Leu527His)
c.1397T>A (p.Leu466His)
c.3629T>A (p.Leu1210His)
c.3581T>A (p.Leu1194His)
c.3350T>A (p.Leu1117His)
c.3251T>A (p.Leu1084His)
c.2432T>A (p.Leu811His)
n.3983T>A
13g.51937616G>ACA388022216ATP7Bc.*1413C>T (n.*1413C>T)
c.*2507C>T (n.*2507C>T)
c.3142C>T (p.Leu1048Phe)
c.3763C>T (p.Leu1255Phe)
c.3430C>T (p.Leu1144Phe)
c.3511C>T (p.Leu1171Phe)
n.1004C>T
c.3529C>T (p.Leu1177Phe)
n.3902C>T
n.629C>T
c.2698C>T (p.Leu900Phe)
c.2473C>T (p.Leu825Phe)
c.3568C>T (p.Leu1190Phe)
c.1541C>T
c.*864C>T (n.*864C>T)
n.4507C>T
n.3108C>T
c.3619C>T (p.Leu1207Phe)
c.3667C>T (p.Leu1223Phe)
c.3727C>T (p.Leu1243Phe)
c.3277C>T (p.Leu1093Phe)
c.1579C>T (p.Leu527Phe)
c.1396C>T (p.Leu466Phe)
c.3628C>T (p.Leu1210Phe)
c.3580C>T (p.Leu1194Phe)
c.3349C>T (p.Leu1117Phe)
c.3250C>T (p.Leu1084Phe)
c.2431C>T (p.Leu811Phe)
n.3982C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937616G>CCA388022218ATP7Bc.*1413C>G (n.*1413C>G)
c.*2507C>G (n.*2507C>G)
c.3142C>G (p.Leu1048Val)
c.3763C>G (p.Leu1255Val)
c.3430C>G (p.Leu1144Val)
c.3511C>G (p.Leu1171Val)
n.1004C>G
c.3529C>G (p.Leu1177Val)
n.3902C>G
n.629C>G
c.2698C>G (p.Leu900Val)
c.2473C>G (p.Leu825Val)
c.3568C>G (p.Leu1190Val)
c.1541C>G
c.*864C>G (n.*864C>G)
n.4507C>G
n.3108C>G
c.3619C>G (p.Leu1207Val)
c.3667C>G (p.Leu1223Val)
c.3727C>G (p.Leu1243Val)
c.3277C>G (p.Leu1093Val)
c.1579C>G (p.Leu527Val)
c.1396C>G (p.Leu466Val)
c.3628C>G (p.Leu1210Val)
c.3580C>G (p.Leu1194Val)
c.3349C>G (p.Leu1117Val)
c.3250C>G (p.Leu1084Val)
c.2431C>G (p.Leu811Val)
n.3982C>G
13g.51937616G=CA2091554165ATP7Bc.*1413C= (n.*1413C=)
c.*2507C= (n.*2507C=)
c.3142C= (p.Leu1048=)
c.3763C= (p.Leu1255=)
c.3430C= (p.Leu1144=)
c.3511C= (p.Leu1171=)
n.1004C=
c.3529C= (p.Leu1177=)
n.3902C=
n.629C=
c.2698C= (p.Leu900=)
c.2473C= (p.Leu825=)
c.3568C= (p.Leu1190=)
c.1541C=
c.*864C= (n.*864C=)
n.4507C=
n.3108C=
c.3619C= (p.Leu1207=)
c.3667C= (p.Leu1223=)
c.3727C= (p.Leu1243=)
c.3277C= (p.Leu1093=)
c.1579C= (p.Leu527=)
c.1396C= (p.Leu466=)
c.3628C= (p.Leu1210=)
c.3580C= (p.Leu1194=)
c.3349C= (p.Leu1117=)
c.3250C= (p.Leu1084=)
c.2431C= (p.Leu811=)
n.3982C=
13g.51937616G>TCA388022220ATP7Bc.*1413C>A (n.*1413C>A)
c.*2507C>A (n.*2507C>A)
c.3142C>A (p.Leu1048Ile)
c.3763C>A (p.Leu1255Ile)
c.3430C>A (p.Leu1144Ile)
c.3511C>A (p.Leu1171Ile)
n.1004C>A
c.3529C>A (p.Leu1177Ile)
n.3902C>A
n.629C>A
c.2698C>A (p.Leu900Ile)
c.2473C>A (p.Leu825Ile)
c.3568C>A (p.Leu1190Ile)
c.1541C>A
c.*864C>A (n.*864C>A)
n.4507C>A
n.3108C>A
c.3619C>A (p.Leu1207Ile)
c.3667C>A (p.Leu1223Ile)
c.3727C>A (p.Leu1243Ile)
c.3277C>A (p.Leu1093Ile)
c.1579C>A (p.Leu527Ile)
c.1396C>A (p.Leu466Ile)
c.3628C>A (p.Leu1210Ile)
c.3580C>A (p.Leu1194Ile)
c.3349C>A (p.Leu1117Ile)
c.3250C>A (p.Leu1084Ile)
c.2431C>A (p.Leu811Ile)
n.3982C>A
13g.51937617C>ACA388022223ATP7Bc.*1412G>T (n.*1412G>T)
c.*2506G>T (n.*2506G>T)
c.3141G>T (p.Glu1047Asp)
c.3762G>T (p.Glu1254Asp)
c.3429G>T (p.Glu1143Asp)
c.3510G>T (p.Glu1170Asp)
n.1003G>T
c.3528G>T (p.Glu1176Asp)
n.3901G>T
n.628G>T
c.2697G>T (p.Glu899Asp)
c.2472G>T (p.Glu824Asp)
c.3567G>T (p.Glu1189Asp)
c.1540G>T
c.*863G>T (n.*863G>T)
n.4506G>T
n.3107G>T
c.3618G>T (p.Glu1206Asp)
c.3666G>T (p.Glu1222Asp)
c.3726G>T (p.Glu1242Asp)
c.3276G>T (p.Glu1092Asp)
c.1578G>T (p.Glu526Asp)
c.1395G>T (p.Glu465Asp)
c.3627G>T (p.Glu1209Asp)
c.3579G>T (p.Glu1193Asp)
c.3348G>T (p.Glu1116Asp)
c.3249G>T (p.Glu1083Asp)
c.2430G>T (p.Glu810Asp)
n.3981G>T
13g.51937617C>GCA388022226ATP7Bc.*1412G>C (n.*1412G>C)
c.*2506G>C (n.*2506G>C)
c.3141G>C (p.Glu1047Asp)
c.3762G>C (p.Glu1254Asp)
c.3429G>C (p.Glu1143Asp)
c.3510G>C (p.Glu1170Asp)
n.1003G>C
c.3528G>C (p.Glu1176Asp)
n.3901G>C
n.628G>C
c.2697G>C (p.Glu899Asp)
c.2472G>C (p.Glu824Asp)
c.3567G>C (p.Glu1189Asp)
c.1540G>C
c.*863G>C (n.*863G>C)
n.4506G>C
n.3107G>C
c.3618G>C (p.Glu1206Asp)
c.3666G>C (p.Glu1222Asp)
c.3726G>C (p.Glu1242Asp)
c.3276G>C (p.Glu1092Asp)
c.1578G>C (p.Glu526Asp)
c.1395G>C (p.Glu465Asp)
c.3627G>C (p.Glu1209Asp)
c.3579G>C (p.Glu1193Asp)
c.3348G>C (p.Glu1116Asp)
c.3249G>C (p.Glu1083Asp)
c.2430G>C (p.Glu810Asp)
n.3981G>C
13g.51937617C>TCA484024648ATP7Bc.*1412G>A (n.*1412G>A)
c.*2506G>A (n.*2506G>A)
c.3141G>A (p.Glu1047=)
c.3762G>A (p.Glu1254=)
c.3429G>A (p.Glu1143=)
c.3510G>A (p.Glu1170=)
n.1003G>A
c.3528G>A (p.Glu1176=)
n.3901G>A
n.628G>A
c.2697G>A (p.Glu899=)
c.2472G>A (p.Glu824=)
c.3567G>A (p.Glu1189=)
c.1540G>A
c.*863G>A (n.*863G>A)
n.4506G>A
n.3107G>A
c.3618G>A (p.Glu1206=)
c.3666G>A (p.Glu1222=)
c.3726G>A (p.Glu1242=)
c.3276G>A (p.Glu1092=)
c.1578G>A (p.Glu526=)
c.1395G>A (p.Glu465=)
c.3627G>A (p.Glu1209=)
c.3579G>A (p.Glu1193=)
c.3348G>A (p.Glu1116=)
c.3249G>A (p.Glu1083=)
c.2430G>A (p.Glu810=)
n.3981G>A
13g.51937618T>ACA388022230ATP7Bc.*1411A>T (n.*1411A>T)
c.*2505A>T (n.*2505A>T)
c.3140A>T (p.Glu1047Val)
c.3761A>T (p.Glu1254Val)
c.3428A>T (p.Glu1143Val)
c.3509A>T (p.Glu1170Val)
n.1002A>T
c.3527A>T (p.Glu1176Val)
n.3900A>T
n.627A>T
c.2696A>T (p.Glu899Val)
c.2471A>T (p.Glu824Val)
c.3566A>T (p.Glu1189Val)
c.1539A>T
c.*862A>T (n.*862A>T)
n.4505A>T
n.3106A>T
c.3617A>T (p.Glu1206Val)
c.3665A>T (p.Glu1222Val)
c.3725A>T (p.Glu1242Val)
c.3275A>T (p.Glu1092Val)
c.1577A>T (p.Glu526Val)
c.1394A>T (p.Glu465Val)
c.3626A>T (p.Glu1209Val)
c.3578A>T (p.Glu1193Val)
c.3347A>T (p.Glu1116Val)
c.3248A>T (p.Glu1083Val)
c.2429A>T (p.Glu810Val)
n.3980A>T
13g.51937618T>CCA388022235ATP7Bc.*1411A>G (n.*1411A>G)
c.*2505A>G (n.*2505A>G)
c.3140A>G (p.Glu1047Gly)
c.3761A>G (p.Glu1254Gly)
c.3428A>G (p.Glu1143Gly)
c.3509A>G (p.Glu1170Gly)
n.1002A>G
c.3527A>G (p.Glu1176Gly)
n.3900A>G
n.627A>G
c.2696A>G (p.Glu899Gly)
c.2471A>G (p.Glu824Gly)
c.3566A>G (p.Glu1189Gly)
c.1539A>G
c.*862A>G (n.*862A>G)
n.4505A>G
n.3106A>G
c.3617A>G (p.Glu1206Gly)
c.3665A>G (p.Glu1222Gly)
c.3725A>G (p.Glu1242Gly)
c.3275A>G (p.Glu1092Gly)
c.1577A>G (p.Glu526Gly)
c.1394A>G (p.Glu465Gly)
c.3626A>G (p.Glu1209Gly)
c.3578A>G (p.Glu1193Gly)
c.3347A>G (p.Glu1116Gly)
c.3248A>G (p.Glu1083Gly)
c.2429A>G (p.Glu810Gly)
n.3980A>G
13g.51937618T>GCA388022233ATP7Bc.*1411A>C (n.*1411A>C)
c.*2505A>C (n.*2505A>C)
c.3140A>C (p.Glu1047Ala)
c.3761A>C (p.Glu1254Ala)
c.3428A>C (p.Glu1143Ala)
c.3509A>C (p.Glu1170Ala)
n.1002A>C
c.3527A>C (p.Glu1176Ala)
n.3900A>C
n.627A>C
c.2696A>C (p.Glu899Ala)
c.2471A>C (p.Glu824Ala)
c.3566A>C (p.Glu1189Ala)
c.1539A>C
c.*862A>C (n.*862A>C)
n.4505A>C
n.3106A>C
c.3617A>C (p.Glu1206Ala)
c.3665A>C (p.Glu1222Ala)
c.3725A>C (p.Glu1242Ala)
c.3275A>C (p.Glu1092Ala)
c.1577A>C (p.Glu526Ala)
c.1394A>C (p.Glu465Ala)
c.3626A>C (p.Glu1209Ala)
c.3578A>C (p.Glu1193Ala)
c.3347A>C (p.Glu1116Ala)
c.3248A>C (p.Glu1083Ala)
c.2429A>C (p.Glu810Ala)
n.3980A>C
13g.51937619C>ACA388022239ATP7Bc.*1410G>T (n.*1410G>T)
c.*2504G>T (n.*2504G>T)
c.3139G>T (p.Glu1047Ter)
c.3760G>T (p.Glu1254Ter)
c.3427G>T (p.Glu1143Ter)
c.3508G>T (p.Glu1170Ter)
n.1001G>T
c.3526G>T (p.Glu1176Ter)
n.3899G>T
n.626G>T
c.2695G>T (p.Glu899Ter)
c.2470G>T (p.Glu824Ter)
c.3565G>T (p.Glu1189Ter)
c.1538G>T
c.*861G>T (n.*861G>T)
n.4504G>T
n.3105G>T
c.3616G>T (p.Glu1206Ter)
c.3664G>T (p.Glu1222Ter)
c.3724G>T (p.Glu1242Ter)
c.3274G>T (p.Glu1092Ter)
c.1576G>T (p.Glu526Ter)
c.1393G>T (p.Glu465Ter)
c.3625G>T (p.Glu1209Ter)
c.3577G>T (p.Glu1193Ter)
c.3346G>T (p.Glu1116Ter)
c.3247G>T (p.Glu1083Ter)
c.2428G>T (p.Glu810Ter)
n.3979G>T
13g.51937619C=CA2091554169ATP7Bc.*1410G= (n.*1410G=)
c.*2504G= (n.*2504G=)
c.3139G= (p.Glu1047=)
c.3760G= (p.Glu1254=)
c.3427G= (p.Glu1143=)
c.3508G= (p.Glu1170=)
n.1001G=
c.3526G= (p.Glu1176=)
n.3899G=
n.626G=
c.2695G= (p.Glu899=)
c.2470G= (p.Glu824=)
c.3565G= (p.Glu1189=)
c.1538G=
c.*861G= (n.*861G=)
n.4504G=
n.3105G=
c.3616G= (p.Glu1206=)
c.3664G= (p.Glu1222=)
c.3724G= (p.Glu1242=)
c.3274G= (p.Glu1092=)
c.1576G= (p.Glu526=)
c.1393G= (p.Glu465=)
c.3625G= (p.Glu1209=)
c.3577G= (p.Glu1193=)
c.3346G= (p.Glu1116=)
c.3247G= (p.Glu1083=)
c.2428G= (p.Glu810=)
n.3979G=
13g.51937619C>GCA388022245ATP7Bc.*1410G>C (n.*1410G>C)
c.*2504G>C (n.*2504G>C)
c.3139G>C (p.Glu1047Gln)
c.3760G>C (p.Glu1254Gln)
c.3427G>C (p.Glu1143Gln)
c.3508G>C (p.Glu1170Gln)
n.1001G>C
c.3526G>C (p.Glu1176Gln)
n.3899G>C
n.626G>C
c.2695G>C (p.Glu899Gln)
c.2470G>C (p.Glu824Gln)
c.3565G>C (p.Glu1189Gln)
c.1538G>C
c.*861G>C (n.*861G>C)
n.4504G>C
n.3105G>C
c.3616G>C (p.Glu1206Gln)
c.3664G>C (p.Glu1222Gln)
c.3724G>C (p.Glu1242Gln)
c.3274G>C (p.Glu1092Gln)
c.1576G>C (p.Glu526Gln)
c.1393G>C (p.Glu465Gln)
c.3625G>C (p.Glu1209Gln)
c.3577G>C (p.Glu1193Gln)
c.3346G>C (p.Glu1116Gln)
c.3247G>C (p.Glu1083Gln)
c.2428G>C (p.Glu810Gln)
n.3979G>C
13g.51937619C>TCA250073759ATP7Bc.*1410G>A (n.*1410G>A)
c.*2504G>A (n.*2504G>A)
c.3139G>A (p.Glu1047Lys)
c.3760G>A (p.Glu1254Lys)
c.3427G>A (p.Glu1143Lys)
c.3508G>A (p.Glu1170Lys)
n.1001G>A
c.3526G>A (p.Glu1176Lys)
n.3899G>A
n.626G>A
c.2695G>A (p.Glu899Lys)
c.2470G>A (p.Glu824Lys)
c.3565G>A (p.Glu1189Lys)
c.1538G>A
c.*861G>A (n.*861G>A)
n.4504G>A
n.3105G>A
c.3616G>A (p.Glu1206Lys)
c.3664G>A (p.Glu1222Lys)
c.3724G>A (p.Glu1242Lys)
c.3274G>A (p.Glu1092Lys)
c.1576G>A (p.Glu526Lys)
c.1393G>A (p.Glu465Lys)
c.3625G>A (p.Glu1209Lys)
c.3577G>A (p.Glu1193Lys)
c.3346G>A (p.Glu1116Lys)
c.3247G>A (p.Glu1083Lys)
c.2428G>A (p.Glu810Lys)
n.3979G>A
 dbSNP
13g.51937620C>ACA388022246ATP7Bc.*1409G>T (n.*1409G>T)
c.*2503G>T (n.*2503G>T)
c.3138G>T (p.Gln1046His)
c.3759G>T (p.Gln1253His)
c.3426G>T (p.Gln1142His)
c.3507G>T (p.Gln1169His)
n.1000G>T
c.3525G>T (p.Gln1175His)
n.3898G>T
n.625G>T
c.2694G>T (p.Gln898His)
c.2469G>T (p.Gln823His)
c.3564G>T (p.Gln1188His)
c.1537G>T
c.*860G>T (n.*860G>T)
n.4503G>T
n.3104G>T
c.3615G>T (p.Gln1205His)
c.3663G>T (p.Gln1221His)
c.3723G>T (p.Gln1241His)
c.3273G>T (p.Gln1091His)
c.1575G>T (p.Gln525His)
c.1392G>T (p.Gln464His)
c.3624G>T (p.Gln1208His)
c.3576G>T (p.Gln1192His)
c.3345G>T (p.Gln1115His)
c.3246G>T (p.Gln1082His)
c.2427G>T (p.Gln809His)
n.3978G>T
13g.51937620C>GCA388022248ATP7Bc.*1409G>C (n.*1409G>C)
c.*2503G>C (n.*2503G>C)
c.3138G>C (p.Gln1046His)
c.3759G>C (p.Gln1253His)
c.3426G>C (p.Gln1142His)
c.3507G>C (p.Gln1169His)
n.1000G>C
c.3525G>C (p.Gln1175His)
n.3898G>C
n.625G>C
c.2694G>C (p.Gln898His)
c.2469G>C (p.Gln823His)
c.3564G>C (p.Gln1188His)
c.1537G>C
c.*860G>C (n.*860G>C)
n.4503G>C
n.3104G>C
c.3615G>C (p.Gln1205His)
c.3663G>C (p.Gln1221His)
c.3723G>C (p.Gln1241His)
c.3273G>C (p.Gln1091His)
c.1575G>C (p.Gln525His)
c.1392G>C (p.Gln464His)
c.3624G>C (p.Gln1208His)
c.3576G>C (p.Gln1192His)
c.3345G>C (p.Gln1115His)
c.3246G>C (p.Gln1082His)
c.2427G>C (p.Gln809His)
n.3978G>C
13g.51937620C>TCA484024659ATP7Bc.*1409G>A (n.*1409G>A)
c.*2503G>A (n.*2503G>A)
c.3138G>A (p.Gln1046=)
c.3759G>A (p.Gln1253=)
c.3426G>A (p.Gln1142=)
c.3507G>A (p.Gln1169=)
n.1000G>A
c.3525G>A (p.Gln1175=)
n.3898G>A
n.625G>A
c.2694G>A (p.Gln898=)
c.2469G>A (p.Gln823=)
c.3564G>A (p.Gln1188=)
c.1537G>A
c.*860G>A (n.*860G>A)
n.4503G>A
n.3104G>A
c.3615G>A (p.Gln1205=)
c.3663G>A (p.Gln1221=)
c.3723G>A (p.Gln1241=)
c.3273G>A (p.Gln1091=)
c.1575G>A (p.Gln525=)
c.1392G>A (p.Gln464=)
c.3624G>A (p.Gln1208=)
c.3576G>A (p.Gln1192=)
c.3345G>A (p.Gln1115=)
c.3246G>A (p.Gln1082=)
c.2427G>A (p.Gln809=)
n.3978G>A
13g.51937621T>ACA388022252ATP7Bc.*1408A>T (n.*1408A>T)
c.*2502A>T (n.*2502A>T)
c.3137A>T (p.Gln1046Leu)
c.3758A>T (p.Gln1253Leu)
c.3425A>T (p.Gln1142Leu)
c.3506A>T (p.Gln1169Leu)
n.999A>T
c.3524A>T (p.Gln1175Leu)
n.3897A>T
n.624A>T
c.2693A>T (p.Gln898Leu)
c.2468A>T (p.Gln823Leu)
c.3563A>T (p.Gln1188Leu)
c.1536A>T
c.*859A>T (n.*859A>T)
n.4502A>T
n.3103A>T
c.3614A>T (p.Gln1205Leu)
c.3662A>T (p.Gln1221Leu)
c.3722A>T (p.Gln1241Leu)
c.3272A>T (p.Gln1091Leu)
c.1574A>T (p.Gln525Leu)
c.1391A>T (p.Gln464Leu)
c.3623A>T (p.Gln1208Leu)
c.3575A>T (p.Gln1192Leu)
c.3344A>T (p.Gln1115Leu)
c.3245A>T (p.Gln1082Leu)
c.2426A>T (p.Gln809Leu)
n.3977A>T
13g.51937621T>CCA388022255ATP7Bc.*1408A>G (n.*1408A>G)
c.*2502A>G (n.*2502A>G)
c.3137A>G (p.Gln1046Arg)
c.3758A>G (p.Gln1253Arg)
c.3425A>G (p.Gln1142Arg)
c.3506A>G (p.Gln1169Arg)
n.999A>G
c.3524A>G (p.Gln1175Arg)
n.3897A>G
n.624A>G
c.2693A>G (p.Gln898Arg)
c.2468A>G (p.Gln823Arg)
c.3563A>G (p.Gln1188Arg)
c.1536A>G
c.*859A>G (n.*859A>G)
n.4502A>G
n.3103A>G
c.3614A>G (p.Gln1205Arg)
c.3662A>G (p.Gln1221Arg)
c.3722A>G (p.Gln1241Arg)
c.3272A>G (p.Gln1091Arg)
c.1574A>G (p.Gln525Arg)
c.1391A>G (p.Gln464Arg)
c.3623A>G (p.Gln1208Arg)
c.3575A>G (p.Gln1192Arg)
c.3344A>G (p.Gln1115Arg)
c.3245A>G (p.Gln1082Arg)
c.2426A>G (p.Gln809Arg)
n.3977A>G
13g.51937621T>GCA388022257ATP7Bc.*1408A>C (n.*1408A>C)
c.*2502A>C (n.*2502A>C)
c.3137A>C (p.Gln1046Pro)
c.3758A>C (p.Gln1253Pro)
c.3425A>C (p.Gln1142Pro)
c.3506A>C (p.Gln1169Pro)
n.999A>C
c.3524A>C (p.Gln1175Pro)
n.3897A>C
n.624A>C
c.2693A>C (p.Gln898Pro)
c.2468A>C (p.Gln823Pro)
c.3563A>C (p.Gln1188Pro)
c.1536A>C
c.*859A>C (n.*859A>C)
n.4502A>C
n.3103A>C
c.3614A>C (p.Gln1205Pro)
c.3662A>C (p.Gln1221Pro)
c.3722A>C (p.Gln1241Pro)
c.3272A>C (p.Gln1091Pro)
c.1574A>C (p.Gln525Pro)
c.1391A>C (p.Gln464Pro)
c.3623A>C (p.Gln1208Pro)
c.3575A>C (p.Gln1192Pro)
c.3344A>C (p.Gln1115Pro)
c.3245A>C (p.Gln1082Pro)
c.2426A>C (p.Gln809Pro)
n.3977A>C
13g.51937622G>ACA388022260ATP7Bc.*1407C>T (n.*1407C>T)
c.*2501C>T (n.*2501C>T)
c.3136C>T (p.Gln1046Ter)
c.3757C>T (p.Gln1253Ter)
c.3424C>T (p.Gln1142Ter)
c.3505C>T (p.Gln1169Ter)
n.998C>T
c.3523C>T (p.Gln1175Ter)
n.3896C>T
n.623C>T
c.2692C>T (p.Gln898Ter)
c.2467C>T (p.Gln823Ter)
c.3562C>T (p.Gln1188Ter)
c.1535C>T
c.*858C>T (n.*858C>T)
n.4501C>T
n.3102C>T
c.3613C>T (p.Gln1205Ter)
c.3661C>T (p.Gln1221Ter)
c.3721C>T (p.Gln1241Ter)
c.3271C>T (p.Gln1091Ter)
c.1573C>T (p.Gln525Ter)
c.1390C>T (p.Gln464Ter)
c.3622C>T (p.Gln1208Ter)
c.3574C>T (p.Gln1192Ter)
c.3343C>T (p.Gln1115Ter)
c.3244C>T (p.Gln1082Ter)
c.2425C>T (p.Gln809Ter)
n.3976C>T
 ClinVar gnomAD v4
13g.51937622G>CCA388022264ATP7Bc.*1407C>G (n.*1407C>G)
c.*2501C>G (n.*2501C>G)
c.3136C>G (p.Gln1046Glu)
c.3757C>G (p.Gln1253Glu)
c.3424C>G (p.Gln1142Glu)
c.3505C>G (p.Gln1169Glu)
n.998C>G
c.3523C>G (p.Gln1175Glu)
n.3896C>G
n.623C>G
c.2692C>G (p.Gln898Glu)
c.2467C>G (p.Gln823Glu)
c.3562C>G (p.Gln1188Glu)
c.1535C>G
c.*858C>G (n.*858C>G)
n.4501C>G
n.3102C>G
c.3613C>G (p.Gln1205Glu)
c.3661C>G (p.Gln1221Glu)
c.3721C>G (p.Gln1241Glu)
c.3271C>G (p.Gln1091Glu)
c.1573C>G (p.Gln525Glu)
c.1390C>G (p.Gln464Glu)
c.3622C>G (p.Gln1208Glu)
c.3574C>G (p.Gln1192Glu)
c.3343C>G (p.Gln1115Glu)
c.3244C>G (p.Gln1082Glu)
c.2425C>G (p.Gln809Glu)
n.3976C>G
13g.51937622G>TCA388022267ATP7Bc.*1407C>A (n.*1407C>A)
c.*2501C>A (n.*2501C>A)
c.3136C>A (p.Gln1046Lys)
c.3757C>A (p.Gln1253Lys)
c.3424C>A (p.Gln1142Lys)
c.3505C>A (p.Gln1169Lys)
n.998C>A
c.3523C>A (p.Gln1175Lys)
n.3896C>A
n.623C>A
c.2692C>A (p.Gln898Lys)
c.2467C>A (p.Gln823Lys)
c.3562C>A (p.Gln1188Lys)
c.1535C>A
c.*858C>A (n.*858C>A)
n.4501C>A
n.3102C>A
c.3613C>A (p.Gln1205Lys)
c.3661C>A (p.Gln1221Lys)
c.3721C>A (p.Gln1241Lys)
c.3271C>A (p.Gln1091Lys)
c.1573C>A (p.Gln525Lys)
c.1390C>A (p.Gln464Lys)
c.3622C>A (p.Gln1208Lys)
c.3574C>A (p.Gln1192Lys)
c.3343C>A (p.Gln1115Lys)
c.3244C>A (p.Gln1082Lys)
c.2425C>A (p.Gln809Lys)
n.3976C>A
13g.51937623delCA2623119326ATP7Bc.*1407del (n.*1407del)
c.*2501del (n.*2501del)
c.3136del (p.Gln1046ArgfsTer?)
c.3757del (p.Gln1253ArgfsTer?)
c.3424del (p.Gln1142ArgfsTer?)
c.3505del (p.Gln1169ArgfsTer?)
n.998del
c.3523del (p.Gln1175ArgfsTer?)
n.3896del
n.623del
c.2692del (p.Gln898ArgfsTer?)
c.2467del (p.Gln823ArgfsTer?)
c.3562del (p.Gln1188ArgfsTer?)
c.1535del
c.*858del (n.*858del)
n.4501del
n.3102del
c.3613del (p.Gln1205ArgfsTer?)
c.3661del (p.Gln1221ArgfsTer?)
c.3721del (p.Gln1241ArgfsTer?)
c.3271del (p.Gln1091ArgfsTer?)
c.1573del (p.Gln525ArgfsTer?)
c.1390del (p.Gln464ArgfsTer?)
c.3622del (p.Gln1208ArgfsTer?)
c.3574del (p.Gln1192ArgfsTer?)
c.3343del (p.Gln1115ArgfsTer?)
c.3244del (p.Gln1082ArgfsTer?)
c.2425del (p.Gln809ArgfsTer?)
n.3976del
 gnomAD v4
13g.51937623G>ACA484024665ATP7Bc.*1406C>T (n.*1406C>T)
c.*2500C>T (n.*2500C>T)
c.3135C>T (p.Val1045=)
c.3756C>T (p.Val1252=)
c.3423C>T (p.Val1141=)
c.3504C>T (p.Val1168=)
n.997C>T
c.3522C>T (p.Val1174=)
n.3895C>T
n.622C>T
c.2691C>T (p.Val897=)
c.2466C>T (p.Val822=)
c.3561C>T (p.Val1187=)
c.1534C>T
c.*857C>T (n.*857C>T)
n.4500C>T
n.3101C>T
c.3612C>T (p.Val1204=)
c.3660C>T (p.Val1220=)
c.3720C>T (p.Val1240=)
c.3270C>T (p.Val1090=)
c.1572C>T (p.Val524=)
c.1389C>T (p.Val463=)
c.3621C>T (p.Val1207=)
c.3573C>T (p.Val1191=)
c.3342C>T (p.Val1114=)
c.3243C>T (p.Val1081=)
c.2424C>T (p.Val808=)
n.3975C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937623G>CCA484024667ATP7Bc.*1406C>G (n.*1406C>G)
c.*2500C>G (n.*2500C>G)
c.3135C>G (p.Val1045=)
c.3756C>G (p.Val1252=)
c.3423C>G (p.Val1141=)
c.3504C>G (p.Val1168=)
n.997C>G
c.3522C>G (p.Val1174=)
n.3895C>G
n.622C>G
c.2691C>G (p.Val897=)
c.2466C>G (p.Val822=)
c.3561C>G (p.Val1187=)
c.1534C>G
c.*857C>G (n.*857C>G)
n.4500C>G
n.3101C>G
c.3612C>G (p.Val1204=)
c.3660C>G (p.Val1220=)
c.3720C>G (p.Val1240=)
c.3270C>G (p.Val1090=)
c.1572C>G (p.Val524=)
c.1389C>G (p.Val463=)
c.3621C>G (p.Val1207=)
c.3573C>G (p.Val1191=)
c.3342C>G (p.Val1114=)
c.3243C>G (p.Val1081=)
c.2424C>G (p.Val808=)
n.3975C>G
13g.51937623G=CA2091554173ATP7Bc.*1406C= (n.*1406C=)
c.*2500C= (n.*2500C=)
c.3135C= (p.Val1045=)
c.3756C= (p.Val1252=)
c.3423C= (p.Val1141=)
c.3504C= (p.Val1168=)
n.997C=
c.3522C= (p.Val1174=)
n.3895C=
n.622C=
c.2691C= (p.Val897=)
c.2466C= (p.Val822=)
c.3561C= (p.Val1187=)
c.1534C=
c.*857C= (n.*857C=)
n.4500C=
n.3101C=
c.3612C= (p.Val1204=)
c.3660C= (p.Val1220=)
c.3720C= (p.Val1240=)
c.3270C= (p.Val1090=)
c.1572C= (p.Val524=)
c.1389C= (p.Val463=)
c.3621C= (p.Val1207=)
c.3573C= (p.Val1191=)
c.3342C= (p.Val1114=)
c.3243C= (p.Val1081=)
c.2424C= (p.Val808=)
n.3975C=
13g.51937623G>TCA484024670ATP7Bc.*1406C>A (n.*1406C>A)
c.*2500C>A (n.*2500C>A)
c.3135C>A (p.Val1045=)
c.3756C>A (p.Val1252=)
c.3423C>A (p.Val1141=)
c.3504C>A (p.Val1168=)
n.997C>A
c.3522C>A (p.Val1174=)
n.3895C>A
n.622C>A
c.2691C>A (p.Val897=)
c.2466C>A (p.Val822=)
c.3561C>A (p.Val1187=)
c.1534C>A
c.*857C>A (n.*857C>A)
n.4500C>A
n.3101C>A
c.3612C>A (p.Val1204=)
c.3660C>A (p.Val1220=)
c.3720C>A (p.Val1240=)
c.3270C>A (p.Val1090=)
c.1572C>A (p.Val524=)
c.1389C>A (p.Val463=)
c.3621C>A (p.Val1207=)
c.3573C>A (p.Val1191=)
c.3342C>A (p.Val1114=)
c.3243C>A (p.Val1081=)
c.2424C>A (p.Val808=)
n.3975C>A
13g.51937624A>CCA388022271ATP7Bc.*1405T>G (n.*1405T>G)
c.*2499T>G (n.*2499T>G)
c.3134T>G (p.Val1045Gly)
c.3755T>G (p.Val1252Gly)
c.3422T>G (p.Val1141Gly)
c.3503T>G (p.Val1168Gly)
n.996T>G
c.3521T>G (p.Val1174Gly)
n.3894T>G
n.621T>G
c.2690T>G (p.Val897Gly)
c.2465T>G (p.Val822Gly)
c.3560T>G (p.Val1187Gly)
c.1533T>G
c.*856T>G (n.*856T>G)
n.4499T>G
n.3100T>G
c.3611T>G (p.Val1204Gly)
c.3659T>G (p.Val1220Gly)
c.3719T>G (p.Val1240Gly)
c.3269T>G (p.Val1090Gly)
c.1571T>G (p.Val524Gly)
c.1388T>G (p.Val463Gly)
c.3620T>G (p.Val1207Gly)
c.3572T>G (p.Val1191Gly)
c.3341T>G (p.Val1114Gly)
c.3242T>G (p.Val1081Gly)
c.2423T>G (p.Val808Gly)
n.3974T>G
13g.51937624A>GCA388022273ATP7Bc.*1405T>C (n.*1405T>C)
c.*2499T>C (n.*2499T>C)
c.3134T>C (p.Val1045Ala)
c.3755T>C (p.Val1252Ala)
c.3422T>C (p.Val1141Ala)
c.3503T>C (p.Val1168Ala)
n.996T>C
c.3521T>C (p.Val1174Ala)
n.3894T>C
n.621T>C
c.2690T>C (p.Val897Ala)
c.2465T>C (p.Val822Ala)
c.3560T>C (p.Val1187Ala)
c.1533T>C
c.*856T>C (n.*856T>C)
n.4499T>C
n.3100T>C
c.3611T>C (p.Val1204Ala)
c.3659T>C (p.Val1220Ala)
c.3719T>C (p.Val1240Ala)
c.3269T>C (p.Val1090Ala)
c.1571T>C (p.Val524Ala)
c.1388T>C (p.Val463Ala)
c.3620T>C (p.Val1207Ala)
c.3572T>C (p.Val1191Ala)
c.3341T>C (p.Val1114Ala)
c.3242T>C (p.Val1081Ala)
c.2423T>C (p.Val808Ala)
n.3974T>C
13g.51937624A>TCA388022277ATP7Bc.*1405T>A (n.*1405T>A)
c.*2499T>A (n.*2499T>A)
c.3134T>A (p.Val1045Asp)
c.3755T>A (p.Val1252Asp)
c.3422T>A (p.Val1141Asp)
c.3503T>A (p.Val1168Asp)
n.996T>A
c.3521T>A (p.Val1174Asp)
n.3894T>A
n.621T>A
c.2690T>A (p.Val897Asp)
c.2465T>A (p.Val822Asp)
c.3560T>A (p.Val1187Asp)
c.1533T>A
c.*856T>A (n.*856T>A)
n.4499T>A
n.3100T>A
c.3611T>A (p.Val1204Asp)
c.3659T>A (p.Val1220Asp)
c.3719T>A (p.Val1240Asp)
c.3269T>A (p.Val1090Asp)
c.1571T>A (p.Val524Asp)
c.1388T>A (p.Val463Asp)
c.3620T>A (p.Val1207Asp)
c.3572T>A (p.Val1191Asp)
c.3341T>A (p.Val1114Asp)
c.3242T>A (p.Val1081Asp)
c.2423T>A (p.Val808Asp)
n.3974T>A
13g.51937625_51937626insTGATTTATAACCA2799207222ATP7Bc.*1405_*1406insTATAAATCAGT (n.*1405_*1406insTATAAATCAGT)
c.*2499_*2500insTATAAATCAGT (n.*2499_*2500insTATAAATCAGT)
c.3134_3135insTATAAATCAGT (p.Gln1046IlefsTer?)
c.3755_3756insTATAAATCAGT (p.Gln1253IlefsTer?)
c.3422_3423insTATAAATCAGT (p.Gln1142IlefsTer?)
c.3503_3504insTATAAATCAGT (p.Gln1169IlefsTer?)
n.996_997insTATAAATCAGT
c.3521_3522insTATAAATCAGT (p.Gln1175IlefsTer?)
n.3894_3895insTATAAATCAGT
n.621_622insTATAAATCAGT
c.2690_2691insTATAAATCAGT (p.Gln898IlefsTer?)
c.2465_2466insTATAAATCAGT (p.Gln823IlefsTer?)
c.3560_3561insTATAAATCAGT (p.Gln1188IlefsTer?)
c.1533_1534insTATAAATCAGT
c.*856_*857insTATAAATCAGT (n.*856_*857insTATAAATCAGT)
n.4499_4500insTATAAATCAGT
n.3100_3101insTATAAATCAGT
c.3611_3612insTATAAATCAGT (p.Gln1205IlefsTer?)
c.3659_3660insTATAAATCAGT (p.Gln1221IlefsTer?)
c.3719_3720insTATAAATCAGT (p.Gln1241IlefsTer?)
c.3269_3270insTATAAATCAGT (p.Gln1091IlefsTer?)
c.1571_1572insTATAAATCAGT (p.Gln525IlefsTer?)
c.1388_1389insTATAAATCAGT (p.Gln464IlefsTer?)
c.3620_3621insTATAAATCAGT (p.Gln1208IlefsTer?)
c.3572_3573insTATAAATCAGT (p.Gln1192IlefsTer?)
c.3341_3342insTATAAATCAGT (p.Gln1115IlefsTer?)
c.3242_3243insTATAAATCAGT (p.Gln1082IlefsTer?)
c.2423_2424insTATAAATCAGT (p.Gln809IlefsTer?)
n.3974_3975insTATAAATCAGT
13g.51937625C>ACA388022291ATP7Bc.*1404G>T (n.*1404G>T)
c.*2498G>T (n.*2498G>T)
c.3133G>T (p.Val1045Phe)
c.3754G>T (p.Val1252Phe)
c.3421G>T (p.Val1141Phe)
c.3502G>T (p.Val1168Phe)
n.995G>T
c.3520G>T (p.Val1174Phe)
n.3893G>T
n.620G>T
c.2689G>T (p.Val897Phe)
c.2464G>T (p.Val822Phe)
c.3559G>T (p.Val1187Phe)
c.1532G>T
c.*855G>T (n.*855G>T)
n.4498G>T
n.3099G>T
c.3610G>T (p.Val1204Phe)
c.3658G>T (p.Val1220Phe)
c.3718G>T (p.Val1240Phe)
c.3268G>T (p.Val1090Phe)
c.1570G>T (p.Val524Phe)
c.1387G>T (p.Val463Phe)
c.3619G>T (p.Val1207Phe)
c.3571G>T (p.Val1191Phe)
c.3340G>T (p.Val1114Phe)
c.3241G>T (p.Val1081Phe)
c.2422G>T (p.Val808Phe)
n.3973G>T
13g.51937625C>GCA388022286ATP7Bc.*1404G>C (n.*1404G>C)
c.*2498G>C (n.*2498G>C)
c.3133G>C (p.Val1045Leu)
c.3754G>C (p.Val1252Leu)
c.3421G>C (p.Val1141Leu)
c.3502G>C (p.Val1168Leu)
n.995G>C
c.3520G>C (p.Val1174Leu)
n.3893G>C
n.620G>C
c.2689G>C (p.Val897Leu)
c.2464G>C (p.Val822Leu)
c.3559G>C (p.Val1187Leu)
c.1532G>C
c.*855G>C (n.*855G>C)
n.4498G>C
n.3099G>C
c.3610G>C (p.Val1204Leu)
c.3658G>C (p.Val1220Leu)
c.3718G>C (p.Val1240Leu)
c.3268G>C (p.Val1090Leu)
c.1570G>C (p.Val524Leu)
c.1387G>C (p.Val463Leu)
c.3619G>C (p.Val1207Leu)
c.3571G>C (p.Val1191Leu)
c.3340G>C (p.Val1114Leu)
c.3241G>C (p.Val1081Leu)
c.2422G>C (p.Val808Leu)
n.3973G>C
13g.51937625C>TCA388022283ATP7Bc.*1404G>A (n.*1404G>A)
c.*2498G>A (n.*2498G>A)
c.3133G>A (p.Val1045Ile)
c.3754G>A (p.Val1252Ile)
c.3421G>A (p.Val1141Ile)
c.3502G>A (p.Val1168Ile)
n.995G>A
c.3520G>A (p.Val1174Ile)
n.3893G>A
n.620G>A
c.2689G>A (p.Val897Ile)
c.2464G>A (p.Val822Ile)
c.3559G>A (p.Val1187Ile)
c.1532G>A
c.*855G>A (n.*855G>A)
n.4498G>A
n.3099G>A
c.3610G>A (p.Val1204Ile)
c.3658G>A (p.Val1220Ile)
c.3718G>A (p.Val1240Ile)
c.3268G>A (p.Val1090Ile)
c.1570G>A (p.Val524Ile)
c.1387G>A (p.Val463Ile)
c.3619G>A (p.Val1207Ile)
c.3571G>A (p.Val1191Ile)
c.3340G>A (p.Val1114Ile)
c.3241G>A (p.Val1081Ile)
c.2422G>A (p.Val808Ile)
n.3973G>A
13g.51937626C>ACA388022292ATP7Bc.*1403G>T (n.*1403G>T)
c.*2497G>T (n.*2497G>T)
c.3132G>T (p.Lys1044Asn)
c.3753G>T (p.Lys1251Asn)
c.3420G>T (p.Lys1140Asn)
c.3501G>T (p.Lys1167Asn)
n.994G>T
c.3519G>T (p.Lys1173Asn)
n.3892G>T
n.619G>T
c.2688G>T (p.Lys896Asn)
c.2463G>T (p.Lys821Asn)
c.3558G>T (p.Lys1186Asn)
c.1531G>T
c.*854G>T (n.*854G>T)
n.4497G>T
n.3098G>T
c.3609G>T (p.Lys1203Asn)
c.3657G>T (p.Lys1219Asn)
c.3717G>T (p.Lys1239Asn)
c.3267G>T (p.Lys1089Asn)
c.1569G>T (p.Lys523Asn)
c.1386G>T (p.Lys462Asn)
c.3618G>T (p.Lys1206Asn)
c.3570G>T (p.Lys1190Asn)
c.3339G>T (p.Lys1113Asn)
c.3240G>T (p.Lys1080Asn)
c.2421G>T (p.Lys807Asn)
n.3972G>T
13g.51937626C=CA2091554177ATP7Bc.*1403G= (n.*1403G=)
c.*2497G= (n.*2497G=)
c.3132G= (p.Lys1044=)
c.3753G= (p.Lys1251=)
c.3420G= (p.Lys1140=)
c.3501G= (p.Lys1167=)
n.994G=
c.3519G= (p.Lys1173=)
n.3892G=
n.619G=
c.2688G= (p.Lys896=)
c.2463G= (p.Lys821=)
c.3558G= (p.Lys1186=)
c.1531G=
c.*854G= (n.*854G=)
n.4497G=
n.3098G=
c.3609G= (p.Lys1203=)
c.3657G= (p.Lys1219=)
c.3717G= (p.Lys1239=)
c.3267G= (p.Lys1089=)
c.1569G= (p.Lys523=)
c.1386G= (p.Lys462=)
c.3618G= (p.Lys1206=)
c.3570G= (p.Lys1190=)
c.3339G= (p.Lys1113=)
c.3240G= (p.Lys1080=)
c.2421G= (p.Lys807=)
n.3972G=
13g.51937626C>GCA388022296ATP7Bc.*1403G>C (n.*1403G>C)
c.*2497G>C (n.*2497G>C)
c.3132G>C (p.Lys1044Asn)
c.3753G>C (p.Lys1251Asn)
c.3420G>C (p.Lys1140Asn)
c.3501G>C (p.Lys1167Asn)
n.994G>C
c.3519G>C (p.Lys1173Asn)
n.3892G>C
n.619G>C
c.2688G>C (p.Lys896Asn)
c.2463G>C (p.Lys821Asn)
c.3558G>C (p.Lys1186Asn)
c.1531G>C
c.*854G>C (n.*854G>C)
n.4497G>C
n.3098G>C
c.3609G>C (p.Lys1203Asn)
c.3657G>C (p.Lys1219Asn)
c.3717G>C (p.Lys1239Asn)
c.3267G>C (p.Lys1089Asn)
c.1569G>C (p.Lys523Asn)
c.1386G>C (p.Lys462Asn)
c.3618G>C (p.Lys1206Asn)
c.3570G>C (p.Lys1190Asn)
c.3339G>C (p.Lys1113Asn)
c.3240G>C (p.Lys1080Asn)
c.2421G>C (p.Lys807Asn)
n.3972G>C
 dbSNP gnomAD v2 gnomAD v4
13g.51937626C>TCA484024674ATP7Bc.*1403G>A (n.*1403G>A)
c.*2497G>A (n.*2497G>A)
c.3132G>A (p.Lys1044=)
c.3753G>A (p.Lys1251=)
c.3420G>A (p.Lys1140=)
c.3501G>A (p.Lys1167=)
n.994G>A
c.3519G>A (p.Lys1173=)
n.3892G>A
n.619G>A
c.2688G>A (p.Lys896=)
c.2463G>A (p.Lys821=)
c.3558G>A (p.Lys1186=)
c.1531G>A
c.*854G>A (n.*854G>A)
n.4497G>A
n.3098G>A
c.3609G>A (p.Lys1203=)
c.3657G>A (p.Lys1219=)
c.3717G>A (p.Lys1239=)
c.3267G>A (p.Lys1089=)
c.1569G>A (p.Lys523=)
c.1386G>A (p.Lys462=)
c.3618G>A (p.Lys1206=)
c.3570G>A (p.Lys1190=)
c.3339G>A (p.Lys1113=)
c.3240G>A (p.Lys1080=)
c.2421G>A (p.Lys807=)
n.3972G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937627T>ACA388022302ATP7Bc.*1402A>T (n.*1402A>T)
c.*2496A>T (n.*2496A>T)
c.3131A>T (p.Lys1044Met)
c.3752A>T (p.Lys1251Met)
c.3419A>T (p.Lys1140Met)
c.3500A>T (p.Lys1167Met)
n.993A>T
c.3518A>T (p.Lys1173Met)
n.3891A>T
n.618A>T
c.2687A>T (p.Lys896Met)
c.2462A>T (p.Lys821Met)
c.3557A>T (p.Lys1186Met)
c.1530A>T
c.*853A>T (n.*853A>T)
n.4496A>T
n.3097A>T
c.3608A>T (p.Lys1203Met)
c.3656A>T (p.Lys1219Met)
c.3716A>T (p.Lys1239Met)
c.3266A>T (p.Lys1089Met)
c.1568A>T (p.Lys523Met)
c.1385A>T (p.Lys462Met)
c.3617A>T (p.Lys1206Met)
c.3569A>T (p.Lys1190Met)
c.3338A>T (p.Lys1113Met)
c.3239A>T (p.Lys1080Met)
c.2420A>T (p.Lys807Met)
n.3971A>T
 ClinVar gnomAD v4
13g.51937627T>CCA388022303ATP7Bc.*1402A>G (n.*1402A>G)
c.*2496A>G (n.*2496A>G)
c.3131A>G (p.Lys1044Arg)
c.3752A>G (p.Lys1251Arg)
c.3419A>G (p.Lys1140Arg)
c.3500A>G (p.Lys1167Arg)
n.993A>G
c.3518A>G (p.Lys1173Arg)
n.3891A>G
n.618A>G
c.2687A>G (p.Lys896Arg)
c.2462A>G (p.Lys821Arg)
c.3557A>G (p.Lys1186Arg)
c.1530A>G
c.*853A>G (n.*853A>G)
n.4496A>G
n.3097A>G
c.3608A>G (p.Lys1203Arg)
c.3656A>G (p.Lys1219Arg)
c.3716A>G (p.Lys1239Arg)
c.3266A>G (p.Lys1089Arg)
c.1568A>G (p.Lys523Arg)
c.1385A>G (p.Lys462Arg)
c.3617A>G (p.Lys1206Arg)
c.3569A>G (p.Lys1190Arg)
c.3338A>G (p.Lys1113Arg)
c.3239A>G (p.Lys1080Arg)
c.2420A>G (p.Lys807Arg)
n.3971A>G
13g.51937627T>GCA388022304ATP7Bc.*1402A>C (n.*1402A>C)
c.*2496A>C (n.*2496A>C)
c.3131A>C (p.Lys1044Thr)
c.3752A>C (p.Lys1251Thr)
c.3419A>C (p.Lys1140Thr)
c.3500A>C (p.Lys1167Thr)
n.993A>C
c.3518A>C (p.Lys1173Thr)
n.3891A>C
n.618A>C
c.2687A>C (p.Lys896Thr)
c.2462A>C (p.Lys821Thr)
c.3557A>C (p.Lys1186Thr)
c.1530A>C
c.*853A>C (n.*853A>C)
n.4496A>C
n.3097A>C
c.3608A>C (p.Lys1203Thr)
c.3656A>C (p.Lys1219Thr)
c.3716A>C (p.Lys1239Thr)
c.3266A>C (p.Lys1089Thr)
c.1568A>C (p.Lys523Thr)
c.1385A>C (p.Lys462Thr)
c.3617A>C (p.Lys1206Thr)
c.3569A>C (p.Lys1190Thr)
c.3338A>C (p.Lys1113Thr)
c.3239A>C (p.Lys1080Thr)
c.2420A>C (p.Lys807Thr)
n.3971A>C
13g.51937628delCA2499222487ATP7Bc.*1402del (n.*1402del)
c.*2496del (n.*2496del)
c.3131del (p.Lys1044ArgfsTer?)
c.3752del (p.Lys1251ArgfsTer?)
c.3419del (p.Lys1140ArgfsTer?)
c.3500del (p.Lys1167ArgfsTer?)
n.993del
c.3518del (p.Lys1173ArgfsTer?)
n.3891del
n.618del
c.2687del (p.Lys896ArgfsTer?)
c.2462del (p.Lys821ArgfsTer?)
c.3557del (p.Lys1186ArgfsTer?)
c.1530del
c.*853del (n.*853del)
n.4496del
n.3097del
c.3608del (p.Lys1203ArgfsTer?)
c.3656del (p.Lys1219ArgfsTer?)
c.3716del (p.Lys1239ArgfsTer?)
c.3266del (p.Lys1089ArgfsTer?)
c.1568del (p.Lys523ArgfsTer?)
c.1385del (p.Lys462ArgfsTer?)
c.3617del (p.Lys1206ArgfsTer?)
c.3569del (p.Lys1190ArgfsTer?)
c.3338del (p.Lys1113ArgfsTer?)
c.3239del (p.Lys1080ArgfsTer?)
c.2420del (p.Lys807ArgfsTer?)
n.3971del
 ClinVar dbSNP
13g.51937628T>ACA388022306ATP7Bc.*1401A>T (n.*1401A>T)
c.*2495A>T (n.*2495A>T)
c.3130A>T (p.Lys1044Ter)
c.3751A>T (p.Lys1251Ter)
c.3418A>T (p.Lys1140Ter)
c.3499A>T (p.Lys1167Ter)
n.992A>T
c.3517A>T (p.Lys1173Ter)
n.3890A>T
n.617A>T
c.2686A>T (p.Lys896Ter)
c.2461A>T (p.Lys821Ter)
c.3556A>T (p.Lys1186Ter)
c.1529A>T
c.*852A>T (n.*852A>T)
n.4495A>T
n.3096A>T
c.3607A>T (p.Lys1203Ter)
c.3655A>T (p.Lys1219Ter)
c.3715A>T (p.Lys1239Ter)
c.3265A>T (p.Lys1089Ter)
c.1567A>T (p.Lys523Ter)
c.1384A>T (p.Lys462Ter)
c.3616A>T (p.Lys1206Ter)
c.3568A>T (p.Lys1190Ter)
c.3337A>T (p.Lys1113Ter)
c.3238A>T (p.Lys1080Ter)
c.2419A>T (p.Lys807Ter)
n.3970A>T
13g.51937628T>CCA388022309ATP7Bc.*1401A>G (n.*1401A>G)
c.*2495A>G (n.*2495A>G)
c.3130A>G (p.Lys1044Glu)
c.3751A>G (p.Lys1251Glu)
c.3418A>G (p.Lys1140Glu)
c.3499A>G (p.Lys1167Glu)
n.992A>G
c.3517A>G (p.Lys1173Glu)
n.3890A>G
n.617A>G
c.2686A>G (p.Lys896Glu)
c.2461A>G (p.Lys821Glu)
c.3556A>G (p.Lys1186Glu)
c.1529A>G
c.*852A>G (n.*852A>G)
n.4495A>G
n.3096A>G
c.3607A>G (p.Lys1203Glu)
c.3655A>G (p.Lys1219Glu)
c.3715A>G (p.Lys1239Glu)
c.3265A>G (p.Lys1089Glu)
c.1567A>G (p.Lys523Glu)
c.1384A>G (p.Lys462Glu)
c.3616A>G (p.Lys1206Glu)
c.3568A>G (p.Lys1190Glu)
c.3337A>G (p.Lys1113Glu)
c.3238A>G (p.Lys1080Glu)
c.2419A>G (p.Lys807Glu)
n.3970A>G
13g.51937628T>GCA388022310ATP7Bc.*1401A>C (n.*1401A>C)
c.*2495A>C (n.*2495A>C)
c.3130A>C (p.Lys1044Gln)
c.3751A>C (p.Lys1251Gln)
c.3418A>C (p.Lys1140Gln)
c.3499A>C (p.Lys1167Gln)
n.992A>C
c.3517A>C (p.Lys1173Gln)
n.3890A>C
n.617A>C
c.2686A>C (p.Lys896Gln)
c.2461A>C (p.Lys821Gln)
c.3556A>C (p.Lys1186Gln)
c.1529A>C
c.*852A>C (n.*852A>C)
n.4495A>C
n.3096A>C
c.3607A>C (p.Lys1203Gln)
c.3655A>C (p.Lys1219Gln)
c.3715A>C (p.Lys1239Gln)
c.3265A>C (p.Lys1089Gln)
c.1567A>C (p.Lys523Gln)
c.1384A>C (p.Lys462Gln)
c.3616A>C (p.Lys1206Gln)
c.3568A>C (p.Lys1190Gln)
c.3337A>C (p.Lys1113Gln)
c.3238A>C (p.Lys1080Gln)
c.2419A>C (p.Lys807Gln)
n.3970A>C
13g.51937629G>ACA484024677ATP7Bc.*1400C>T (n.*1400C>T)
c.*2494C>T (n.*2494C>T)
c.3129C>T (p.Ala1043=)
c.3750C>T (p.Ala1250=)
c.3417C>T (p.Ala1139=)
c.3498C>T (p.Ala1166=)
n.991C>T
c.3516C>T (p.Ala1172=)
n.3889C>T
n.616C>T
c.2685C>T (p.Ala895=)
c.2460C>T (p.Ala820=)
c.3555C>T (p.Ala1185=)
c.1528C>T
c.*851C>T (n.*851C>T)
n.4494C>T
n.3095C>T
c.3606C>T (p.Ala1202=)
c.3654C>T (p.Ala1218=)
c.3714C>T (p.Ala1238=)
c.3264C>T (p.Ala1088=)
c.1566C>T (p.Ala522=)
c.1383C>T (p.Ala461=)
c.3615C>T (p.Ala1205=)
c.3567C>T (p.Ala1189=)
c.3336C>T (p.Ala1112=)
c.3237C>T (p.Ala1079=)
c.2418C>T (p.Ala806=)
n.3969C>T
 ClinVar
13g.51937629G>CCA484024679ATP7Bc.*1400C>G (n.*1400C>G)
c.*2494C>G (n.*2494C>G)
c.3129C>G (p.Ala1043=)
c.3750C>G (p.Ala1250=)
c.3417C>G (p.Ala1139=)
c.3498C>G (p.Ala1166=)
n.991C>G
c.3516C>G (p.Ala1172=)
n.3889C>G
n.616C>G
c.2685C>G (p.Ala895=)
c.2460C>G (p.Ala820=)
c.3555C>G (p.Ala1185=)
c.1528C>G
c.*851C>G (n.*851C>G)
n.4494C>G
n.3095C>G
c.3606C>G (p.Ala1202=)
c.3654C>G (p.Ala1218=)
c.3714C>G (p.Ala1238=)
c.3264C>G (p.Ala1088=)
c.1566C>G (p.Ala522=)
c.1383C>G (p.Ala461=)
c.3615C>G (p.Ala1205=)
c.3567C>G (p.Ala1189=)
c.3336C>G (p.Ala1112=)
c.3237C>G (p.Ala1079=)
c.2418C>G (p.Ala806=)
n.3969C>G
13g.51937629G>TCA484024681ATP7Bc.*1400C>A (n.*1400C>A)
c.*2494C>A (n.*2494C>A)
c.3129C>A (p.Ala1043=)
c.3750C>A (p.Ala1250=)
c.3417C>A (p.Ala1139=)
c.3498C>A (p.Ala1166=)
n.991C>A
c.3516C>A (p.Ala1172=)
n.3889C>A
n.616C>A
c.2685C>A (p.Ala895=)
c.2460C>A (p.Ala820=)
c.3555C>A (p.Ala1185=)
c.1528C>A
c.*851C>A (n.*851C>A)
n.4494C>A
n.3095C>A
c.3606C>A (p.Ala1202=)
c.3654C>A (p.Ala1218=)
c.3714C>A (p.Ala1238=)
c.3264C>A (p.Ala1088=)
c.1566C>A (p.Ala522=)
c.1383C>A (p.Ala461=)
c.3615C>A (p.Ala1205=)
c.3567C>A (p.Ala1189=)
c.3336C>A (p.Ala1112=)
c.3237C>A (p.Ala1079=)
c.2418C>A (p.Ala806=)
n.3969C>A
 gnomAD v4
13g.51937630G>ACA388022314ATP7Bc.*1399C>T (n.*1399C>T)
c.*2493C>T (n.*2493C>T)
c.3128C>T (p.Ala1043Val)
c.3749C>T (p.Ala1250Val)
c.3416C>T (p.Ala1139Val)
c.3497C>T (p.Ala1166Val)
n.990C>T
c.3515C>T (p.Ala1172Val)
n.3888C>T
n.615C>T
c.2684C>T (p.Ala895Val)
c.2459C>T (p.Ala820Val)
c.3554C>T (p.Ala1185Val)
c.1527C>T
c.*850C>T (n.*850C>T)
n.4493C>T
n.3094C>T
c.3605C>T (p.Ala1202Val)
c.3653C>T (p.Ala1218Val)
c.3713C>T (p.Ala1238Val)
c.3263C>T (p.Ala1088Val)
c.1565C>T (p.Ala522Val)
c.1382C>T (p.Ala461Val)
c.3614C>T (p.Ala1205Val)
c.3566C>T (p.Ala1189Val)
c.3335C>T (p.Ala1112Val)
c.3236C>T (p.Ala1079Val)
c.2417C>T (p.Ala806Val)
n.3968C>T
13g.51937630G>CCA6988573ATP7Bc.*1399C>G (n.*1399C>G)
c.*2493C>G (n.*2493C>G)
c.3128C>G (p.Ala1043Gly)
c.3749C>G (p.Ala1250Gly)
c.3416C>G (p.Ala1139Gly)
c.3497C>G (p.Ala1166Gly)
n.990C>G
c.3515C>G (p.Ala1172Gly)
n.3888C>G
n.615C>G
c.2684C>G (p.Ala895Gly)
c.2459C>G (p.Ala820Gly)
c.3554C>G (p.Ala1185Gly)
c.1527C>G
c.*850C>G (n.*850C>G)
n.4493C>G
n.3094C>G
c.3605C>G (p.Ala1202Gly)
c.3653C>G (p.Ala1218Gly)
c.3713C>G (p.Ala1238Gly)
c.3263C>G (p.Ala1088Gly)
c.1565C>G (p.Ala522Gly)
c.1382C>G (p.Ala461Gly)
c.3614C>G (p.Ala1205Gly)
c.3566C>G (p.Ala1189Gly)
c.3335C>G (p.Ala1112Gly)
c.3236C>G (p.Ala1079Gly)
c.2417C>G (p.Ala806Gly)
n.3968C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937630G=CA2091554184ATP7Bc.*1399C= (n.*1399C=)
c.*2493C= (n.*2493C=)
c.3128C= (p.Ala1043=)
c.3749C= (p.Ala1250=)
c.3416C= (p.Ala1139=)
c.3497C= (p.Ala1166=)
n.990C=
c.3515C= (p.Ala1172=)
n.3888C=
n.615C=
c.2684C= (p.Ala895=)
c.2459C= (p.Ala820=)
c.3554C= (p.Ala1185=)
c.1527C=
c.*850C= (n.*850C=)
n.4493C=
n.3094C=
c.3605C= (p.Ala1202=)
c.3653C= (p.Ala1218=)
c.3713C= (p.Ala1238=)
c.3263C= (p.Ala1088=)
c.1565C= (p.Ala522=)
c.1382C= (p.Ala461=)
c.3614C= (p.Ala1205=)
c.3566C= (p.Ala1189=)
c.3335C= (p.Ala1112=)
c.3236C= (p.Ala1079=)
c.2417C= (p.Ala806=)
n.3968C=
13g.51937630G>TCA388022319ATP7Bc.*1399C>A (n.*1399C>A)
c.*2493C>A (n.*2493C>A)
c.3128C>A (p.Ala1043Asp)
c.3749C>A (p.Ala1250Asp)
c.3416C>A (p.Ala1139Asp)
c.3497C>A (p.Ala1166Asp)
n.990C>A
c.3515C>A (p.Ala1172Asp)
n.3888C>A
n.615C>A
c.2684C>A (p.Ala895Asp)
c.2459C>A (p.Ala820Asp)
c.3554C>A (p.Ala1185Asp)
c.1527C>A
c.*850C>A (n.*850C>A)
n.4493C>A
n.3094C>A
c.3605C>A (p.Ala1202Asp)
c.3653C>A (p.Ala1218Asp)
c.3713C>A (p.Ala1238Asp)
c.3263C>A (p.Ala1088Asp)
c.1565C>A (p.Ala522Asp)
c.1382C>A (p.Ala461Asp)
c.3614C>A (p.Ala1205Asp)
c.3566C>A (p.Ala1189Asp)
c.3335C>A (p.Ala1112Asp)
c.3236C>A (p.Ala1079Asp)
c.2417C>A (p.Ala806Asp)
n.3968C>A
13g.51937631C>ACA388022332ATP7Bc.*1398G>T (n.*1398G>T)
c.*2492G>T (n.*2492G>T)
c.3127G>T (p.Ala1043Ser)
c.3748G>T (p.Ala1250Ser)
c.3415G>T (p.Ala1139Ser)
c.3496G>T (p.Ala1166Ser)
n.989G>T
c.3514G>T (p.Ala1172Ser)
n.3887G>T
n.614G>T
c.2683G>T (p.Ala895Ser)
c.2458G>T (p.Ala820Ser)
c.3553G>T (p.Ala1185Ser)
c.1526G>T
c.*849G>T (n.*849G>T)
n.4492G>T
n.3093G>T
c.3604G>T (p.Ala1202Ser)
c.3652G>T (p.Ala1218Ser)
c.3712G>T (p.Ala1238Ser)
c.3262G>T (p.Ala1088Ser)
c.1564G>T (p.Ala522Ser)
c.1381G>T (p.Ala461Ser)
c.3613G>T (p.Ala1205Ser)
c.3565G>T (p.Ala1189Ser)
c.3334G>T (p.Ala1112Ser)
c.3235G>T (p.Ala1079Ser)
c.2416G>T (p.Ala806Ser)
n.3967G>T
 COSMIC
13g.51937631C>GCA388022327ATP7Bc.*1398G>C (n.*1398G>C)
c.*2492G>C (n.*2492G>C)
c.3127G>C (p.Ala1043Pro)
c.3748G>C (p.Ala1250Pro)
c.3415G>C (p.Ala1139Pro)
c.3496G>C (p.Ala1166Pro)
n.989G>C
c.3514G>C (p.Ala1172Pro)
n.3887G>C
n.614G>C
c.2683G>C (p.Ala895Pro)
c.2458G>C (p.Ala820Pro)
c.3553G>C (p.Ala1185Pro)
c.1526G>C
c.*849G>C (n.*849G>C)
n.4492G>C
n.3093G>C
c.3604G>C (p.Ala1202Pro)
c.3652G>C (p.Ala1218Pro)
c.3712G>C (p.Ala1238Pro)
c.3262G>C (p.Ala1088Pro)
c.1564G>C (p.Ala522Pro)
c.1381G>C (p.Ala461Pro)
c.3613G>C (p.Ala1205Pro)
c.3565G>C (p.Ala1189Pro)
c.3334G>C (p.Ala1112Pro)
c.3235G>C (p.Ala1079Pro)
c.2416G>C (p.Ala806Pro)
n.3967G>C
13g.51937631C>TCA388022323ATP7Bc.*1398G>A (n.*1398G>A)
c.*2492G>A (n.*2492G>A)
c.3127G>A (p.Ala1043Thr)
c.3748G>A (p.Ala1250Thr)
c.3415G>A (p.Ala1139Thr)
c.3496G>A (p.Ala1166Thr)
n.989G>A
c.3514G>A (p.Ala1172Thr)
n.3887G>A
n.614G>A
c.2683G>A (p.Ala895Thr)
c.2458G>A (p.Ala820Thr)
c.3553G>A (p.Ala1185Thr)
c.1526G>A
c.*849G>A (n.*849G>A)
n.4492G>A
n.3093G>A
c.3604G>A (p.Ala1202Thr)
c.3652G>A (p.Ala1218Thr)
c.3712G>A (p.Ala1238Thr)
c.3262G>A (p.Ala1088Thr)
c.1564G>A (p.Ala522Thr)
c.1381G>A (p.Ala461Thr)
c.3613G>A (p.Ala1205Thr)
c.3565G>A (p.Ala1189Thr)
c.3334G>A (p.Ala1112Thr)
c.3235G>A (p.Ala1079Thr)
c.2416G>A (p.Ala806Thr)
n.3967G>A
13g.51937632C>ACA484024685ATP7Bc.*1397G>T (n.*1397G>T)
c.*2491G>T (n.*2491G>T)
c.3126G>T (p.Val1042=)
c.3747G>T (p.Val1249=)
c.3414G>T (p.Val1138=)
c.3495G>T (p.Val1165=)
n.988G>T
c.3513G>T (p.Val1171=)
n.3886G>T
n.613G>T
c.2682G>T (p.Val894=)
c.2457G>T (p.Val819=)
c.3552G>T (p.Val1184=)
c.1525G>T
c.*848G>T (n.*848G>T)
n.4491G>T
n.3092G>T
c.3603G>T (p.Val1201=)
c.3651G>T (p.Val1217=)
c.3711G>T (p.Val1237=)
c.3261G>T (p.Val1087=)
c.1563G>T (p.Val521=)
c.1380G>T (p.Val460=)
c.3612G>T (p.Val1204=)
c.3564G>T (p.Val1188=)
c.3333G>T (p.Val1111=)
c.3234G>T (p.Val1078=)
c.2415G>T (p.Val805=)
n.3966G>T
13g.51937632C=CA2091554189ATP7Bc.*1397G= (n.*1397G=)
c.*2491G= (n.*2491G=)
c.3126G= (p.Val1042=)
c.3747G= (p.Val1249=)
c.3414G= (p.Val1138=)
c.3495G= (p.Val1165=)
n.988G=
c.3513G= (p.Val1171=)
n.3886G=
n.613G=
c.2682G= (p.Val894=)
c.2457G= (p.Val819=)
c.3552G= (p.Val1184=)
c.1525G=
c.*848G= (n.*848G=)
n.4491G=
n.3092G=
c.3603G= (p.Val1201=)
c.3651G= (p.Val1217=)
c.3711G= (p.Val1237=)
c.3261G= (p.Val1087=)
c.1563G= (p.Val521=)
c.1380G= (p.Val460=)
c.3612G= (p.Val1204=)
c.3564G= (p.Val1188=)
c.3333G= (p.Val1111=)
c.3234G= (p.Val1078=)
c.2415G= (p.Val805=)
n.3966G=
13g.51937632C>GCA484024686ATP7Bc.*1397G>C (n.*1397G>C)
c.*2491G>C (n.*2491G>C)
c.3126G>C (p.Val1042=)
c.3747G>C (p.Val1249=)
c.3414G>C (p.Val1138=)
c.3495G>C (p.Val1165=)
n.988G>C
c.3513G>C (p.Val1171=)
n.3886G>C
n.613G>C
c.2682G>C (p.Val894=)
c.2457G>C (p.Val819=)
c.3552G>C (p.Val1184=)
c.1525G>C
c.*848G>C (n.*848G>C)
n.4491G>C
n.3092G>C
c.3603G>C (p.Val1201=)
c.3651G>C (p.Val1217=)
c.3711G>C (p.Val1237=)
c.3261G>C (p.Val1087=)
c.1563G>C (p.Val521=)
c.1380G>C (p.Val460=)
c.3612G>C (p.Val1204=)
c.3564G>C (p.Val1188=)
c.3333G>C (p.Val1111=)
c.3234G>C (p.Val1078=)
c.2415G>C (p.Val805=)
n.3966G>C
13g.51937632C>TCA6988574ATP7Bc.*1397G>A (n.*1397G>A)
c.*2491G>A (n.*2491G>A)
c.3126G>A (p.Val1042=)
c.3747G>A (p.Val1249=)
c.3414G>A (p.Val1138=)
c.3495G>A (p.Val1165=)
n.988G>A
c.3513G>A (p.Val1171=)
n.3886G>A
n.613G>A
c.2682G>A (p.Val894=)
c.2457G>A (p.Val819=)
c.3552G>A (p.Val1184=)
c.1525G>A
c.*848G>A (n.*848G>A)
n.4491G>A
n.3092G>A
c.3603G>A (p.Val1201=)
c.3651G>A (p.Val1217=)
c.3711G>A (p.Val1237=)
c.3261G>A (p.Val1087=)
c.1563G>A (p.Val521=)
c.1380G>A (p.Val460=)
c.3612G>A (p.Val1204=)
c.3564G>A (p.Val1188=)
c.3333G>A (p.Val1111=)
c.3234G>A (p.Val1078=)
c.2415G>A (p.Val805=)
n.3966G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937633A>CCA388022335ATP7Bc.*1396T>G (n.*1396T>G)
c.*2490T>G (n.*2490T>G)
c.3125T>G (p.Val1042Gly)
c.3746T>G (p.Val1249Gly)
c.3413T>G (p.Val1138Gly)
c.3494T>G (p.Val1165Gly)
n.987T>G
c.3512T>G (p.Val1171Gly)
n.3885T>G
n.612T>G
c.2681T>G (p.Val894Gly)
c.2456T>G (p.Val819Gly)
c.3551T>G (p.Val1184Gly)
c.1524T>G
c.*847T>G (n.*847T>G)
n.4490T>G
n.3091T>G
c.3602T>G (p.Val1201Gly)
c.3650T>G (p.Val1217Gly)
c.3710T>G (p.Val1237Gly)
c.3260T>G (p.Val1087Gly)
c.1562T>G (p.Val521Gly)
c.1379T>G (p.Val460Gly)
c.3611T>G (p.Val1204Gly)
c.3563T>G (p.Val1188Gly)
c.3332T>G (p.Val1111Gly)
c.3233T>G (p.Val1078Gly)
c.2414T>G (p.Val805Gly)
n.3965T>G
13g.51937633A>GCA388022338ATP7Bc.*1396T>C (n.*1396T>C)
c.*2490T>C (n.*2490T>C)
c.3125T>C (p.Val1042Ala)
c.3746T>C (p.Val1249Ala)
c.3413T>C (p.Val1138Ala)
c.3494T>C (p.Val1165Ala)
n.987T>C
c.3512T>C (p.Val1171Ala)
n.3885T>C
n.612T>C
c.2681T>C (p.Val894Ala)
c.2456T>C (p.Val819Ala)
c.3551T>C (p.Val1184Ala)
c.1524T>C
c.*847T>C (n.*847T>C)
n.4490T>C
n.3091T>C
c.3602T>C (p.Val1201Ala)
c.3650T>C (p.Val1217Ala)
c.3710T>C (p.Val1237Ala)
c.3260T>C (p.Val1087Ala)
c.1562T>C (p.Val521Ala)
c.1379T>C (p.Val460Ala)
c.3611T>C (p.Val1204Ala)
c.3563T>C (p.Val1188Ala)
c.3332T>C (p.Val1111Ala)
c.3233T>C (p.Val1078Ala)
c.2414T>C (p.Val805Ala)
n.3965T>C
13g.51937633A>TCA388022342ATP7Bc.*1396T>A (n.*1396T>A)
c.*2490T>A (n.*2490T>A)
c.3125T>A (p.Val1042Glu)
c.3746T>A (p.Val1249Glu)
c.3413T>A (p.Val1138Glu)
c.3494T>A (p.Val1165Glu)
n.987T>A
c.3512T>A (p.Val1171Glu)
n.3885T>A
n.612T>A
c.2681T>A (p.Val894Glu)
c.2456T>A (p.Val819Glu)
c.3551T>A (p.Val1184Glu)
c.1524T>A
c.*847T>A (n.*847T>A)
n.4490T>A
n.3091T>A
c.3602T>A (p.Val1201Glu)
c.3650T>A (p.Val1217Glu)
c.3710T>A (p.Val1237Glu)
c.3260T>A (p.Val1087Glu)
c.1562T>A (p.Val521Glu)
c.1379T>A (p.Val460Glu)
c.3611T>A (p.Val1204Glu)
c.3563T>A (p.Val1188Glu)
c.3332T>A (p.Val1111Glu)
c.3233T>A (p.Val1078Glu)
c.2414T>A (p.Val805Glu)
n.3965T>A
 gnomAD v4
13g.51937634C>ACA388022349ATP7Bc.*1395G>T (n.*1395G>T)
c.*2489G>T (n.*2489G>T)
c.3124G>T (p.Val1042Leu)
c.3745G>T (p.Val1249Leu)
c.3412G>T (p.Val1138Leu)
c.3493G>T (p.Val1165Leu)
n.986G>T
c.3511G>T (p.Val1171Leu)
n.3884G>T
n.611G>T
c.2680G>T (p.Val894Leu)
c.2455G>T (p.Val819Leu)
c.3550G>T (p.Val1184Leu)
c.1523G>T
c.*846G>T (n.*846G>T)
n.4489G>T
n.3090G>T
c.3601G>T (p.Val1201Leu)
c.3649G>T (p.Val1217Leu)
c.3709G>T (p.Val1237Leu)
c.3259G>T (p.Val1087Leu)
c.1561G>T (p.Val521Leu)
c.1378G>T (p.Val460Leu)
c.3610G>T (p.Val1204Leu)
c.3562G>T (p.Val1188Leu)
c.3331G>T (p.Val1111Leu)
c.3232G>T (p.Val1078Leu)
c.2413G>T (p.Val805Leu)
n.3964G>T
13g.51937634C>GCA388022352ATP7Bc.*1395G>C (n.*1395G>C)
c.*2489G>C (n.*2489G>C)
c.3124G>C (p.Val1042Leu)
c.3745G>C (p.Val1249Leu)
c.3412G>C (p.Val1138Leu)
c.3493G>C (p.Val1165Leu)
n.986G>C
c.3511G>C (p.Val1171Leu)
n.3884G>C
n.611G>C
c.2680G>C (p.Val894Leu)
c.2455G>C (p.Val819Leu)
c.3550G>C (p.Val1184Leu)
c.1523G>C
c.*846G>C (n.*846G>C)
n.4489G>C
n.3090G>C
c.3601G>C (p.Val1201Leu)
c.3649G>C (p.Val1217Leu)
c.3709G>C (p.Val1237Leu)
c.3259G>C (p.Val1087Leu)
c.1561G>C (p.Val521Leu)
c.1378G>C (p.Val460Leu)
c.3610G>C (p.Val1204Leu)
c.3562G>C (p.Val1188Leu)
c.3331G>C (p.Val1111Leu)
c.3232G>C (p.Val1078Leu)
c.2413G>C (p.Val805Leu)
n.3964G>C
13g.51937634C>TCA388022363ATP7Bc.*1395G>A (n.*1395G>A)
c.*2489G>A (n.*2489G>A)
c.3124G>A (p.Val1042Met)
c.3745G>A (p.Val1249Met)
c.3412G>A (p.Val1138Met)
c.3493G>A (p.Val1165Met)
n.986G>A
c.3511G>A (p.Val1171Met)
n.3884G>A
n.611G>A
c.2680G>A (p.Val894Met)
c.2455G>A (p.Val819Met)
c.3550G>A (p.Val1184Met)
c.1523G>A
c.*846G>A (n.*846G>A)
n.4489G>A
n.3090G>A
c.3601G>A (p.Val1201Met)
c.3649G>A (p.Val1217Met)
c.3709G>A (p.Val1237Met)
c.3259G>A (p.Val1087Met)
c.1561G>A (p.Val521Met)
c.1378G>A (p.Val460Met)
c.3610G>A (p.Val1204Met)
c.3562G>A (p.Val1188Met)
c.3331G>A (p.Val1111Met)
c.3232G>A (p.Val1078Met)
c.2413G>A (p.Val805Met)
n.3964G>A
 gnomAD v4
13g.51937635C>ACA388022366ATP7Bc.*1394G>T (n.*1394G>T)
c.*2488G>T (n.*2488G>T)
c.3123G>T (p.Lys1041Asn)
c.3744G>T (p.Lys1248Asn)
c.3411G>T (p.Lys1137Asn)
c.3492G>T (p.Lys1164Asn)
n.985G>T
c.3510G>T (p.Lys1170Asn)
n.3883G>T
n.610G>T
c.2679G>T (p.Lys893Asn)
c.2454G>T (p.Lys818Asn)
c.3549G>T (p.Lys1183Asn)
c.1522G>T
c.*845G>T (n.*845G>T)
n.4488G>T
n.3089G>T
c.3600G>T (p.Lys1200Asn)
c.3648G>T (p.Lys1216Asn)
c.3708G>T (p.Lys1236Asn)
c.3258G>T (p.Lys1086Asn)
c.1560G>T (p.Lys520Asn)
c.1377G>T (p.Lys459Asn)
c.3609G>T (p.Lys1203Asn)
c.3561G>T (p.Lys1187Asn)
c.3330G>T (p.Lys1110Asn)
c.3231G>T (p.Lys1077Asn)
c.2412G>T (p.Lys804Asn)
n.3963G>T
13g.51937635C>GCA388022368ATP7Bc.*1394G>C (n.*1394G>C)
c.*2488G>C (n.*2488G>C)
c.3123G>C (p.Lys1041Asn)
c.3744G>C (p.Lys1248Asn)
c.3411G>C (p.Lys1137Asn)
c.3492G>C (p.Lys1164Asn)
n.985G>C
c.3510G>C (p.Lys1170Asn)
n.3883G>C
n.610G>C
c.2679G>C (p.Lys893Asn)
c.2454G>C (p.Lys818Asn)
c.3549G>C (p.Lys1183Asn)
c.1522G>C
c.*845G>C (n.*845G>C)
n.4488G>C
n.3089G>C
c.3600G>C (p.Lys1200Asn)
c.3648G>C (p.Lys1216Asn)
c.3708G>C (p.Lys1236Asn)
c.3258G>C (p.Lys1086Asn)
c.1560G>C (p.Lys520Asn)
c.1377G>C (p.Lys459Asn)
c.3609G>C (p.Lys1203Asn)
c.3561G>C (p.Lys1187Asn)
c.3330G>C (p.Lys1110Asn)
c.3231G>C (p.Lys1077Asn)
c.2412G>C (p.Lys804Asn)
n.3963G>C
13g.51937635C>TCA484024690ATP7Bc.*1394G>A (n.*1394G>A)
c.*2488G>A (n.*2488G>A)
c.3123G>A (p.Lys1041=)
c.3744G>A (p.Lys1248=)
c.3411G>A (p.Lys1137=)
c.3492G>A (p.Lys1164=)
n.985G>A
c.3510G>A (p.Lys1170=)
n.3883G>A
n.610G>A
c.2679G>A (p.Lys893=)
c.2454G>A (p.Lys818=)
c.3549G>A (p.Lys1183=)
c.1522G>A
c.*845G>A (n.*845G>A)
n.4488G>A
n.3089G>A
c.3600G>A (p.Lys1200=)
c.3648G>A (p.Lys1216=)
c.3708G>A (p.Lys1236=)
c.3258G>A (p.Lys1086=)
c.1560G>A (p.Lys520=)
c.1377G>A (p.Lys459=)
c.3609G>A (p.Lys1203=)
c.3561G>A (p.Lys1187=)
c.3330G>A (p.Lys1110=)
c.3231G>A (p.Lys1077=)
c.2412G>A (p.Lys804=)
n.3963G>A
13g.51937636T>ACA388022369ATP7Bc.*1393A>T (n.*1393A>T)
c.*2487A>T (n.*2487A>T)
c.3122A>T (p.Lys1041Met)
c.3743A>T (p.Lys1248Met)
c.3410A>T (p.Lys1137Met)
c.3491A>T (p.Lys1164Met)
n.984A>T
c.3509A>T (p.Lys1170Met)
n.3882A>T
n.609A>T
c.2678A>T (p.Lys893Met)
c.2453A>T (p.Lys818Met)
c.3548A>T (p.Lys1183Met)
c.1521A>T
c.*844A>T (n.*844A>T)
n.4487A>T
n.3088A>T
c.3599A>T (p.Lys1200Met)
c.3647A>T (p.Lys1216Met)
c.3707A>T (p.Lys1236Met)
c.3257A>T (p.Lys1086Met)
c.1559A>T (p.Lys520Met)
c.1376A>T (p.Lys459Met)
c.3608A>T (p.Lys1203Met)
c.3560A>T (p.Lys1187Met)
c.3329A>T (p.Lys1110Met)
c.3230A>T (p.Lys1077Met)
c.2411A>T (p.Lys804Met)
n.3962A>T
13g.51937636T>CCA388022370ATP7Bc.*1393A>G (n.*1393A>G)
c.*2487A>G (n.*2487A>G)
c.3122A>G (p.Lys1041Arg)
c.3743A>G (p.Lys1248Arg)
c.3410A>G (p.Lys1137Arg)
c.3491A>G (p.Lys1164Arg)
n.984A>G
c.3509A>G (p.Lys1170Arg)
n.3882A>G
n.609A>G
c.2678A>G (p.Lys893Arg)
c.2453A>G (p.Lys818Arg)
c.3548A>G (p.Lys1183Arg)
c.1521A>G
c.*844A>G (n.*844A>G)
n.4487A>G
n.3088A>G
c.3599A>G (p.Lys1200Arg)
c.3647A>G (p.Lys1216Arg)
c.3707A>G (p.Lys1236Arg)
c.3257A>G (p.Lys1086Arg)
c.1559A>G (p.Lys520Arg)
c.1376A>G (p.Lys459Arg)
c.3608A>G (p.Lys1203Arg)
c.3560A>G (p.Lys1187Arg)
c.3329A>G (p.Lys1110Arg)
c.3230A>G (p.Lys1077Arg)
c.2411A>G (p.Lys804Arg)
n.3962A>G
13g.51937636T>GCA388022371ATP7Bc.*1393A>C (n.*1393A>C)
c.*2487A>C (n.*2487A>C)
c.3122A>C (p.Lys1041Thr)
c.3743A>C (p.Lys1248Thr)
c.3410A>C (p.Lys1137Thr)
c.3491A>C (p.Lys1164Thr)
n.984A>C
c.3509A>C (p.Lys1170Thr)
n.3882A>C
n.609A>C
c.2678A>C (p.Lys893Thr)
c.2453A>C (p.Lys818Thr)
c.3548A>C (p.Lys1183Thr)
c.1521A>C
c.*844A>C (n.*844A>C)
n.4487A>C
n.3088A>C
c.3599A>C (p.Lys1200Thr)
c.3647A>C (p.Lys1216Thr)
c.3707A>C (p.Lys1236Thr)
c.3257A>C (p.Lys1086Thr)
c.1559A>C (p.Lys520Thr)
c.1376A>C (p.Lys459Thr)
c.3608A>C (p.Lys1203Thr)
c.3560A>C (p.Lys1187Thr)
c.3329A>C (p.Lys1110Thr)
c.3230A>C (p.Lys1077Thr)
c.2411A>C (p.Lys804Thr)
n.3962A>C
 COSMIC
13g.51937636T=CA2091554195ATP7Bc.*1393A= (n.*1393A=)
c.*2487A= (n.*2487A=)
c.3122A= (p.Lys1041=)
c.3743A= (p.Lys1248=)
c.3410A= (p.Lys1137=)
c.3491A= (p.Lys1164=)
n.984A=
c.3509A= (p.Lys1170=)
n.3882A=
n.609A=
c.2678A= (p.Lys893=)
c.2453A= (p.Lys818=)
c.3548A= (p.Lys1183=)
c.1521A=
c.*844A= (n.*844A=)
n.4487A=
n.3088A=
c.3599A= (p.Lys1200=)
c.3647A= (p.Lys1216=)
c.3707A= (p.Lys1236=)
c.3257A= (p.Lys1086=)
c.1559A= (p.Lys520=)
c.1376A= (p.Lys459=)
c.3608A= (p.Lys1203=)
c.3560A= (p.Lys1187=)
c.3329A= (p.Lys1110=)
c.3230A= (p.Lys1077=)
c.2411A= (p.Lys804=)
n.3962A=
13g.51937637delCA2697551871ATP7Bc.*1393del (n.*1393del)
c.*2487del (n.*2487del)
c.3122del (p.Lys1041ArgfsTer?)
c.3743del (p.Lys1248ArgfsTer?)
c.3410del (p.Lys1137ArgfsTer?)
c.3491del (p.Lys1164ArgfsTer?)
n.984del
c.3509del (p.Lys1170ArgfsTer?)
n.3882del
n.609del
c.2678del (p.Lys893ArgfsTer?)
c.2453del (p.Lys818ArgfsTer?)
c.3548del (p.Lys1183ArgfsTer?)
c.1521del
c.*844del (n.*844del)
n.4487del
n.3088del
c.3599del (p.Lys1200ArgfsTer?)
c.3647del (p.Lys1216ArgfsTer?)
c.3707del (p.Lys1236ArgfsTer?)
c.3257del (p.Lys1086ArgfsTer?)
c.1559del (p.Lys520ArgfsTer?)
c.1376del (p.Lys459ArgfsTer?)
c.3608del (p.Lys1203ArgfsTer?)
c.3560del (p.Lys1187ArgfsTer?)
c.3329del (p.Lys1110ArgfsTer?)
c.3230del (p.Lys1077ArgfsTer?)
c.2411del (p.Lys804ArgfsTer?)
n.3962del
 ClinVar
13g.51937637T>ACA388022378ATP7Bc.*1392A>T (n.*1392A>T)
c.*2486A>T (n.*2486A>T)
c.3121A>T (p.Lys1041Ter)
c.3742A>T (p.Lys1248Ter)
c.3409A>T (p.Lys1137Ter)
c.3490A>T (p.Lys1164Ter)
n.983A>T
c.3508A>T (p.Lys1170Ter)
n.3881A>T
n.608A>T
c.2677A>T (p.Lys893Ter)
c.2452A>T (p.Lys818Ter)
c.3547A>T (p.Lys1183Ter)
c.1520A>T
c.*843A>T (n.*843A>T)
n.4486A>T
n.3087A>T
c.3598A>T (p.Lys1200Ter)
c.3646A>T (p.Lys1216Ter)
c.3706A>T (p.Lys1236Ter)
c.3256A>T (p.Lys1086Ter)
c.1558A>T (p.Lys520Ter)
c.1375A>T (p.Lys459Ter)
c.3607A>T (p.Lys1203Ter)
c.3559A>T (p.Lys1187Ter)
c.3328A>T (p.Lys1110Ter)
c.3229A>T (p.Lys1077Ter)
c.2410A>T (p.Lys804Ter)
n.3961A>T
13g.51937637T>CCA388022375ATP7Bc.*1392A>G (n.*1392A>G)
c.*2486A>G (n.*2486A>G)
c.3121A>G (p.Lys1041Glu)
c.3742A>G (p.Lys1248Glu)
c.3409A>G (p.Lys1137Glu)
c.3490A>G (p.Lys1164Glu)
n.983A>G
c.3508A>G (p.Lys1170Glu)
n.3881A>G
n.608A>G
c.2677A>G (p.Lys893Glu)
c.2452A>G (p.Lys818Glu)
c.3547A>G (p.Lys1183Glu)
c.1520A>G
c.*843A>G (n.*843A>G)
n.4486A>G
n.3087A>G
c.3598A>G (p.Lys1200Glu)
c.3646A>G (p.Lys1216Glu)
c.3706A>G (p.Lys1236Glu)
c.3256A>G (p.Lys1086Glu)
c.1558A>G (p.Lys520Glu)
c.1375A>G (p.Lys459Glu)
c.3607A>G (p.Lys1203Glu)
c.3559A>G (p.Lys1187Glu)
c.3328A>G (p.Lys1110Glu)
c.3229A>G (p.Lys1077Glu)
c.2410A>G (p.Lys804Glu)
n.3961A>G
13g.51937637T>GCA388022373ATP7Bc.*1392A>C (n.*1392A>C)
c.*2486A>C (n.*2486A>C)
c.3121A>C (p.Lys1041Gln)
c.3742A>C (p.Lys1248Gln)
c.3409A>C (p.Lys1137Gln)
c.3490A>C (p.Lys1164Gln)
n.983A>C
c.3508A>C (p.Lys1170Gln)
n.3881A>C
n.608A>C
c.2677A>C (p.Lys893Gln)
c.2452A>C (p.Lys818Gln)
c.3547A>C (p.Lys1183Gln)
c.1520A>C
c.*843A>C (n.*843A>C)
n.4486A>C
n.3087A>C
c.3598A>C (p.Lys1200Gln)
c.3646A>C (p.Lys1216Gln)
c.3706A>C (p.Lys1236Gln)
c.3256A>C (p.Lys1086Gln)
c.1558A>C (p.Lys520Gln)
c.1375A>C (p.Lys459Gln)
c.3607A>C (p.Lys1203Gln)
c.3559A>C (p.Lys1187Gln)
c.3328A>C (p.Lys1110Gln)
c.3229A>C (p.Lys1077Gln)
c.2410A>C (p.Lys804Gln)
n.3961A>C
13g.51937637T=CA2091554202ATP7Bc.*1392A= (n.*1392A=)
c.*2486A= (n.*2486A=)
c.3121A= (p.Lys1041=)
c.3742A= (p.Lys1248=)
c.3409A= (p.Lys1137=)
c.3490A= (p.Lys1164=)
n.983A=
c.3508A= (p.Lys1170=)
n.3881A=
n.608A=
c.2677A= (p.Lys893=)
c.2452A= (p.Lys818=)
c.3547A= (p.Lys1183=)
c.1520A=
c.*843A= (n.*843A=)
n.4486A=
n.3087A=
c.3598A= (p.Lys1200=)
c.3646A= (p.Lys1216=)
c.3706A= (p.Lys1236=)
c.3256A= (p.Lys1086=)
c.1558A= (p.Lys520=)
c.1375A= (p.Lys459=)
c.3607A= (p.Lys1203=)
c.3559A= (p.Lys1187=)
c.3328A= (p.Lys1110=)
c.3229A= (p.Lys1077=)
c.2410A= (p.Lys804=)
n.3961A=
13g.51937639_51937640dupCA610425734ATP7Bc.*1391_*1392dup (n.*1391_*1392dup)
c.*2485_*2486dup (n.*2485_*2486dup)
c.3120_3121dup (p.Lys1041ThrfsTer?)
c.3741_3742dup (p.Lys1248ThrfsTer?)
c.3408_3409dup (p.Lys1137ThrfsTer?)
c.3489_3490dup (p.Lys1164ThrfsTer?)
n.982_983dup
c.3507_3508dup (p.Lys1170ThrfsTer?)
n.3880_3881dup
n.607_608dup
c.2676_2677dup (p.Lys893ThrfsTer?)
c.2451_2452dup (p.Lys818ThrfsTer?)
c.3546_3547dup (p.Lys1183ThrfsTer?)
c.1519_1520dup
c.*842_*843dup (n.*842_*843dup)
n.4485_4486dup
n.3086_3087dup
c.3597_3598dup (p.Lys1200ThrfsTer?)
c.3645_3646dup (p.Lys1216ThrfsTer?)
c.3705_3706dup (p.Lys1236ThrfsTer?)
c.3255_3256dup (p.Lys1086ThrfsTer?)
c.1557_1558dup (p.Lys520ThrfsTer?)
c.1374_1375dup (p.Lys459ThrfsTer?)
c.3606_3607dup (p.Lys1203ThrfsTer?)
c.3558_3559dup (p.Lys1187ThrfsTer?)
c.3327_3328dup (p.Lys1110ThrfsTer?)
c.3228_3229dup (p.Lys1077ThrfsTer?)
c.2409_2410dup (p.Lys804ThrfsTer?)
n.3960_3961dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937639_51937640delCA2580614736ATP7Bc.*1391_*1392del (n.*1391_*1392del)
c.*2485_*2486del (n.*2485_*2486del)
c.3120_3121del (p.His1040GlnfsTer11)
c.3741_3742del (p.His1247GlnfsTer11)
c.3408_3409del (p.His1136GlnfsTer11)
c.3489_3490del (p.His1163GlnfsTer11)
n.982_983del
c.3507_3508del (p.His1169GlnfsTer11)
n.3880_3881del
n.607_608del
c.2676_2677del (p.His892GlnfsTer11)
c.2451_2452del (p.His817GlnfsTer11)
c.3546_3547del (p.His1182GlnfsTer11)
c.1519_1520del
c.*842_*843del (n.*842_*843del)
n.4485_4486del
n.3086_3087del
c.3597_3598del (p.His1199GlnfsTer11)
c.3645_3646del (p.His1215GlnfsTer11)
c.3705_3706del (p.His1235GlnfsTer11)
c.3255_3256del (p.His1085GlnfsTer11)
c.1557_1558del (p.His519GlnfsTer11)
c.1374_1375del (p.His458GlnfsTer11)
c.3606_3607del (p.His1202GlnfsTer11)
c.3558_3559del (p.His1186GlnfsTer11)
c.3327_3328del (p.His1109GlnfsTer11)
c.3228_3229del (p.His1076GlnfsTer11)
c.2409_2410del (p.His803GlnfsTer11)
n.3960_3961del
 ClinVar
13g.51937637_51937638insTGCA915948578ATP7Bc.*1391_*1392insCA (n.*1391_*1392insCA)
c.*2485_*2486insCA (n.*2485_*2486insCA)
c.3120_3121insCA (p.Lys1041GlnfsTer?)
c.3741_3742insCA (p.Lys1248GlnfsTer?)
c.3408_3409insCA (p.Lys1137GlnfsTer?)
c.3489_3490insCA (p.Lys1164GlnfsTer?)
n.982_983insCA
c.3507_3508insCA (p.Lys1170GlnfsTer?)
n.3880_3881insCA
n.607_608insCA
c.2676_2677insCA (p.Lys893GlnfsTer?)
c.2451_2452insCA (p.Lys818GlnfsTer?)
c.3546_3547insCA (p.Lys1183GlnfsTer?)
c.1519_1520insCA
c.*842_*843insCA (n.*842_*843insCA)
n.4485_4486insCA
n.3086_3087insCA
c.3597_3598insCA (p.Lys1200GlnfsTer?)
c.3645_3646insCA (p.Lys1216GlnfsTer?)
c.3705_3706insCA (p.Lys1236GlnfsTer?)
c.3255_3256insCA (p.Lys1086GlnfsTer?)
c.1557_1558insCA (p.Lys520GlnfsTer?)
c.1374_1375insCA (p.Lys459GlnfsTer?)
c.3606_3607insCA (p.Lys1203GlnfsTer?)
c.3558_3559insCA (p.Lys1187GlnfsTer?)
c.3327_3328insCA (p.Lys1110GlnfsTer?)
c.3228_3229insCA (p.Lys1077GlnfsTer?)
c.2409_2410insCA (p.Lys804GlnfsTer?)
n.3960_3961insCA
13g.51937638G>ACA484024696ATP7Bc.*1391C>T (n.*1391C>T)
c.*2485C>T (n.*2485C>T)
c.3120C>T (p.His1040=)
c.3741C>T (p.His1247=)
c.3408C>T (p.His1136=)
c.3489C>T (p.His1163=)
n.982C>T
c.3507C>T (p.His1169=)
n.3880C>T
n.607C>T
c.2676C>T (p.His892=)
c.2451C>T (p.His817=)
c.3546C>T (p.His1182=)
c.1519C>T
c.*842C>T (n.*842C>T)
n.4485C>T
n.3086C>T
c.3597C>T (p.His1199=)
c.3645C>T (p.His1215=)
c.3705C>T (p.His1235=)
c.3255C>T (p.His1085=)
c.1557C>T (p.His519=)
c.1374C>T (p.His458=)
c.3606C>T (p.His1202=)
c.3558C>T (p.His1186=)
c.3327C>T (p.His1109=)
c.3228C>T (p.His1076=)
c.2409C>T (p.His803=)
n.3960C>T
 ClinVar dbSNP
13g.51937638G>CCA6988575ATP7Bc.*1391C>G (n.*1391C>G)
c.*2485C>G (n.*2485C>G)
c.3120C>G (p.His1040Gln)
c.3741C>G (p.His1247Gln)
c.3408C>G (p.His1136Gln)
c.3489C>G (p.His1163Gln)
n.982C>G
c.3507C>G (p.His1169Gln)
n.3880C>G
n.607C>G
c.2676C>G (p.His892Gln)
c.2451C>G (p.His817Gln)
c.3546C>G (p.His1182Gln)
c.1519C>G
c.*842C>G (n.*842C>G)
n.4485C>G
n.3086C>G
c.3597C>G (p.His1199Gln)
c.3645C>G (p.His1215Gln)
c.3705C>G (p.His1235Gln)
c.3255C>G (p.His1085Gln)
c.1557C>G (p.His519Gln)
c.1374C>G (p.His458Gln)
c.3606C>G (p.His1202Gln)
c.3558C>G (p.His1186Gln)
c.3327C>G (p.His1109Gln)
c.3228C>G (p.His1076Gln)
c.2409C>G (p.His803Gln)
n.3960C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937638G=CA2091554221ATP7Bc.*1391C= (n.*1391C=)
c.*2485C= (n.*2485C=)
c.3120C= (p.His1040=)
c.3741C= (p.His1247=)
c.3408C= (p.His1136=)
c.3489C= (p.His1163=)
n.982C=
c.3507C= (p.His1169=)
n.3880C=
n.607C=
c.2676C= (p.His892=)
c.2451C= (p.His817=)
c.3546C= (p.His1182=)
c.1519C=
c.*842C= (n.*842C=)
n.4485C=
n.3086C=
c.3597C= (p.His1199=)
c.3645C= (p.His1215=)
c.3705C= (p.His1235=)
c.3255C= (p.His1085=)
c.1557C= (p.His519=)
c.1374C= (p.His458=)
c.3606C= (p.His1202=)
c.3558C= (p.His1186=)
c.3327C= (p.His1109=)
c.3228C= (p.His1076=)
c.2409C= (p.His803=)
n.3960C=
13g.51937638G>TCA388022381ATP7Bc.*1391C>A (n.*1391C>A)
c.*2485C>A (n.*2485C>A)
c.3120C>A (p.His1040Gln)
c.3741C>A (p.His1247Gln)
c.3408C>A (p.His1136Gln)
c.3489C>A (p.His1163Gln)
n.982C>A
c.3507C>A (p.His1169Gln)
n.3880C>A
n.607C>A
c.2676C>A (p.His892Gln)
c.2451C>A (p.His817Gln)
c.3546C>A (p.His1182Gln)
c.1519C>A
c.*842C>A (n.*842C>A)
n.4485C>A
n.3086C>A
c.3597C>A (p.His1199Gln)
c.3645C>A (p.His1215Gln)
c.3705C>A (p.His1235Gln)
c.3255C>A (p.His1085Gln)
c.1557C>A (p.His519Gln)
c.1374C>A (p.His458Gln)
c.3606C>A (p.His1202Gln)
c.3558C>A (p.His1186Gln)
c.3327C>A (p.His1109Gln)
c.3228C>A (p.His1076Gln)
c.2409C>A (p.His803Gln)
n.3960C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937639T>ACA388022382ATP7Bc.*1390A>T (n.*1390A>T)
c.*2484A>T (n.*2484A>T)
c.3119A>T (p.His1040Leu)
c.3740A>T (p.His1247Leu)
c.3407A>T (p.His1136Leu)
c.3488A>T (p.His1163Leu)
n.981A>T
c.3506A>T (p.His1169Leu)
n.3879A>T
n.606A>T
c.2675A>T (p.His892Leu)
c.2450A>T (p.His817Leu)
c.3545A>T (p.His1182Leu)
c.1518A>T
c.*841A>T (n.*841A>T)
n.4484A>T
n.3085A>T
c.3596A>T (p.His1199Leu)
c.3644A>T (p.His1215Leu)
c.3704A>T (p.His1235Leu)
c.3254A>T (p.His1085Leu)
c.1556A>T (p.His519Leu)
c.1373A>T (p.His458Leu)
c.3605A>T (p.His1202Leu)
c.3557A>T (p.His1186Leu)
c.3326A>T (p.His1109Leu)
c.3227A>T (p.His1076Leu)
c.2408A>T (p.His803Leu)
n.3959A>T
13g.51937639T>CCA388022385ATP7Bc.*1390A>G (n.*1390A>G)
c.*2484A>G (n.*2484A>G)
c.3119A>G (p.His1040Arg)
c.3740A>G (p.His1247Arg)
c.3407A>G (p.His1136Arg)
c.3488A>G (p.His1163Arg)
n.981A>G
c.3506A>G (p.His1169Arg)
n.3879A>G
n.606A>G
c.2675A>G (p.His892Arg)
c.2450A>G (p.His817Arg)
c.3545A>G (p.His1182Arg)
c.1518A>G
c.*841A>G (n.*841A>G)
n.4484A>G
n.3085A>G
c.3596A>G (p.His1199Arg)
c.3644A>G (p.His1215Arg)
c.3704A>G (p.His1235Arg)
c.3254A>G (p.His1085Arg)
c.1556A>G (p.His519Arg)
c.1373A>G (p.His458Arg)
c.3605A>G (p.His1202Arg)
c.3557A>G (p.His1186Arg)
c.3326A>G (p.His1109Arg)
c.3227A>G (p.His1076Arg)
c.2408A>G (p.His803Arg)
n.3959A>G
13g.51937639T>GCA388022390ATP7Bc.*1390A>C (n.*1390A>C)
c.*2484A>C (n.*2484A>C)
c.3119A>C (p.His1040Pro)
c.3740A>C (p.His1247Pro)
c.3407A>C (p.His1136Pro)
c.3488A>C (p.His1163Pro)
n.981A>C
c.3506A>C (p.His1169Pro)
n.3879A>C
n.606A>C
c.2675A>C (p.His892Pro)
c.2450A>C (p.His817Pro)
c.3545A>C (p.His1182Pro)
c.1518A>C
c.*841A>C (n.*841A>C)
n.4484A>C
n.3085A>C
c.3596A>C (p.His1199Pro)
c.3644A>C (p.His1215Pro)
c.3704A>C (p.His1235Pro)
c.3254A>C (p.His1085Pro)
c.1556A>C (p.His519Pro)
c.1373A>C (p.His458Pro)
c.3605A>C (p.His1202Pro)
c.3557A>C (p.His1186Pro)
c.3326A>C (p.His1109Pro)
c.3227A>C (p.His1076Pro)
c.2408A>C (p.His803Pro)
n.3959A>C
13g.51937640G>ACA388022392ATP7Bc.*1389C>T (n.*1389C>T)
c.*2483C>T (n.*2483C>T)
c.3118C>T (p.His1040Tyr)
c.3739C>T (p.His1247Tyr)
c.3406C>T (p.His1136Tyr)
c.3487C>T (p.His1163Tyr)
n.980C>T
c.3505C>T (p.His1169Tyr)
n.3878C>T
n.605C>T
c.2674C>T (p.His892Tyr)
c.2449C>T (p.His817Tyr)
c.3544C>T (p.His1182Tyr)
c.1517C>T
c.*840C>T (n.*840C>T)
n.4483C>T
n.3084C>T
c.3595C>T (p.His1199Tyr)
c.3643C>T (p.His1215Tyr)
c.3703C>T (p.His1235Tyr)
c.3253C>T (p.His1085Tyr)
c.1555C>T (p.His519Tyr)
c.1372C>T (p.His458Tyr)
c.3604C>T (p.His1202Tyr)
c.3556C>T (p.His1186Tyr)
c.3325C>T (p.His1109Tyr)
c.3226C>T (p.His1076Tyr)
c.2407C>T (p.His803Tyr)
n.3958C>T
 dbSNP gnomAD v3 gnomAD v4
13g.51937640G>CCA388022393ATP7Bc.*1389C>G (n.*1389C>G)
c.*2483C>G (n.*2483C>G)
c.3118C>G (p.His1040Asp)
c.3739C>G (p.His1247Asp)
c.3406C>G (p.His1136Asp)
c.3487C>G (p.His1163Asp)
n.980C>G
c.3505C>G (p.His1169Asp)
n.3878C>G
n.605C>G
c.2674C>G (p.His892Asp)
c.2449C>G (p.His817Asp)
c.3544C>G (p.His1182Asp)
c.1517C>G
c.*840C>G (n.*840C>G)
n.4483C>G
n.3084C>G
c.3595C>G (p.His1199Asp)
c.3643C>G (p.His1215Asp)
c.3703C>G (p.His1235Asp)
c.3253C>G (p.His1085Asp)
c.1555C>G (p.His519Asp)
c.1372C>G (p.His458Asp)
c.3604C>G (p.His1202Asp)
c.3556C>G (p.His1186Asp)
c.3325C>G (p.His1109Asp)
c.3226C>G (p.His1076Asp)
c.2407C>G (p.His803Asp)
n.3958C>G
 gnomAD v4
13g.51937640G=CA2091554232ATP7Bc.*1389C= (n.*1389C=)
c.*2483C= (n.*2483C=)
c.3118C= (p.His1040=)
c.3739C= (p.His1247=)
c.3406C= (p.His1136=)
c.3487C= (p.His1163=)
n.980C=
c.3505C= (p.His1169=)
n.3878C=
n.605C=
c.2674C= (p.His892=)
c.2449C= (p.His817=)
c.3544C= (p.His1182=)
c.1517C=
c.*840C= (n.*840C=)
n.4483C=
n.3084C=
c.3595C= (p.His1199=)
c.3643C= (p.His1215=)
c.3703C= (p.His1235=)
c.3253C= (p.His1085=)
c.1555C= (p.His519=)
c.1372C= (p.His458=)
c.3604C= (p.His1202=)
c.3556C= (p.His1186=)
c.3325C= (p.His1109=)
c.3226C= (p.His1076=)
c.2407C= (p.His803=)
n.3958C=
13g.51937640G>TCA388022394ATP7Bc.*1389C>A (n.*1389C>A)
c.*2483C>A (n.*2483C>A)
c.3118C>A (p.His1040Asn)
c.3739C>A (p.His1247Asn)
c.3406C>A (p.His1136Asn)
c.3487C>A (p.His1163Asn)
n.980C>A
c.3505C>A (p.His1169Asn)
n.3878C>A
n.605C>A
c.2674C>A (p.His892Asn)
c.2449C>A (p.His817Asn)
c.3544C>A (p.His1182Asn)
c.1517C>A
c.*840C>A (n.*840C>A)
n.4483C>A
n.3084C>A
c.3595C>A (p.His1199Asn)
c.3643C>A (p.His1215Asn)
c.3703C>A (p.His1235Asn)
c.3253C>A (p.His1085Asn)
c.1555C>A (p.His519Asn)
c.1372C>A (p.His458Asn)
c.3604C>A (p.His1202Asn)
c.3556C>A (p.His1186Asn)
c.3325C>A (p.His1109Asn)
c.3226C>A (p.His1076Asn)
c.2407C>A (p.His803Asn)
n.3958C>A
13g.51937641C>ACA484024704ATP7Bc.*1388G>T (n.*1388G>T)
c.*2482G>T (n.*2482G>T)
c.3117G>T (p.Ser1039=)
c.3738G>T (p.Ser1246=)
c.3405G>T (p.Ser1135=)
c.3486G>T (p.Ser1162=)
n.979G>T
c.3504G>T (p.Ser1168=)
n.3877G>T
n.604G>T
c.2673G>T (p.Ser891=)
c.2448G>T (p.Ser816=)
c.3543G>T (p.Ser1181=)
c.1516G>T
c.*839G>T (n.*839G>T)
n.4482G>T
n.3083G>T
c.3594G>T (p.Ser1198=)
c.3642G>T (p.Ser1214=)
c.3702G>T (p.Ser1234=)
c.3252G>T (p.Ser1084=)
c.1554G>T (p.Ser518=)
c.1371G>T (p.Ser457=)
c.3603G>T (p.Ser1201=)
c.3555G>T (p.Ser1185=)
c.3324G>T (p.Ser1108=)
c.3225G>T (p.Ser1075=)
c.2406G>T (p.Ser802=)
n.3957G>T
 gnomAD v4
13g.51937641C=CA2091554235ATP7Bc.*1388G= (n.*1388G=)
c.*2482G= (n.*2482G=)
c.3117G= (p.Ser1039=)
c.3738G= (p.Ser1246=)
c.3405G= (p.Ser1135=)
c.3486G= (p.Ser1162=)
n.979G=
c.3504G= (p.Ser1168=)
n.3877G=
n.604G=
c.2673G= (p.Ser891=)
c.2448G= (p.Ser816=)
c.3543G= (p.Ser1181=)
c.1516G=
c.*839G= (n.*839G=)
n.4482G=
n.3083G=
c.3594G= (p.Ser1198=)
c.3642G= (p.Ser1214=)
c.3702G= (p.Ser1234=)
c.3252G= (p.Ser1084=)
c.1554G= (p.Ser518=)
c.1371G= (p.Ser457=)
c.3603G= (p.Ser1201=)
c.3555G= (p.Ser1185=)
c.3324G= (p.Ser1108=)
c.3225G= (p.Ser1075=)
c.2406G= (p.Ser802=)
n.3957G=
13g.51937641C>GCA484024706ATP7Bc.*1388G>C (n.*1388G>C)
c.*2482G>C (n.*2482G>C)
c.3117G>C (p.Ser1039=)
c.3738G>C (p.Ser1246=)
c.3405G>C (p.Ser1135=)
c.3486G>C (p.Ser1162=)
n.979G>C
c.3504G>C (p.Ser1168=)
n.3877G>C
n.604G>C
c.2673G>C (p.Ser891=)
c.2448G>C (p.Ser816=)
c.3543G>C (p.Ser1181=)
c.1516G>C
c.*839G>C (n.*839G>C)
n.4482G>C
n.3083G>C
c.3594G>C (p.Ser1198=)
c.3642G>C (p.Ser1214=)
c.3702G>C (p.Ser1234=)
c.3252G>C (p.Ser1084=)
c.1554G>C (p.Ser518=)
c.1371G>C (p.Ser457=)
c.3603G>C (p.Ser1201=)
c.3555G>C (p.Ser1185=)
c.3324G>C (p.Ser1108=)
c.3225G>C (p.Ser1075=)
c.2406G>C (p.Ser802=)
n.3957G>C
 ClinVar dbSNP
13g.51937641C>TCA6988576ATP7Bc.*1388G>A (n.*1388G>A)
c.*2482G>A (n.*2482G>A)
c.3117G>A (p.Ser1039=)
c.3738G>A (p.Ser1246=)
c.3405G>A (p.Ser1135=)
c.3486G>A (p.Ser1162=)
n.979G>A
c.3504G>A (p.Ser1168=)
n.3877G>A
n.604G>A
c.2673G>A (p.Ser891=)
c.2448G>A (p.Ser816=)
c.3543G>A (p.Ser1181=)
c.1516G>A
c.*839G>A (n.*839G>A)
n.4482G>A
n.3083G>A
c.3594G>A (p.Ser1198=)
c.3642G>A (p.Ser1214=)
c.3702G>A (p.Ser1234=)
c.3252G>A (p.Ser1084=)
c.1554G>A (p.Ser518=)
c.1371G>A (p.Ser457=)
c.3603G>A (p.Ser1201=)
c.3555G>A (p.Ser1185=)
c.3324G>A (p.Ser1108=)
c.3225G>A (p.Ser1075=)
c.2406G>A (p.Ser802=)
n.3957G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937642G>ACA6988577ATP7Bc.*1387C>T (n.*1387C>T)
c.*2481C>T (n.*2481C>T)
c.3116C>T (p.Ser1039Leu)
c.3737C>T (p.Ser1246Leu)
c.3404C>T (p.Ser1135Leu)
c.3485C>T (p.Ser1162Leu)
n.978C>T
c.3503C>T (p.Ser1168Leu)
n.3876C>T
n.603C>T
c.2672C>T (p.Ser891Leu)
c.2447C>T (p.Ser816Leu)
c.3542C>T (p.Ser1181Leu)
c.1515C>T
c.*838C>T (n.*838C>T)
n.4481C>T
n.3082C>T
c.3593C>T (p.Ser1198Leu)
c.3641C>T (p.Ser1214Leu)
c.3701C>T (p.Ser1234Leu)
c.3251C>T (p.Ser1084Leu)
c.1553C>T (p.Ser518Leu)
c.1370C>T (p.Ser457Leu)
c.3602C>T (p.Ser1201Leu)
c.3554C>T (p.Ser1185Leu)
c.3323C>T (p.Ser1108Leu)
c.3224C>T (p.Ser1075Leu)
c.2405C>T (p.Ser802Leu)
n.3956C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937642G>CCA388022395ATP7Bc.*1387C>G (n.*1387C>G)
c.*2481C>G (n.*2481C>G)
c.3116C>G (p.Ser1039Trp)
c.3737C>G (p.Ser1246Trp)
c.3404C>G (p.Ser1135Trp)
c.3485C>G (p.Ser1162Trp)
n.978C>G
c.3503C>G (p.Ser1168Trp)
n.3876C>G
n.603C>G
c.2672C>G (p.Ser891Trp)
c.2447C>G (p.Ser816Trp)
c.3542C>G (p.Ser1181Trp)
c.1515C>G
c.*838C>G (n.*838C>G)
n.4481C>G
n.3082C>G
c.3593C>G (p.Ser1198Trp)
c.3641C>G (p.Ser1214Trp)
c.3701C>G (p.Ser1234Trp)
c.3251C>G (p.Ser1084Trp)
c.1553C>G (p.Ser518Trp)
c.1370C>G (p.Ser457Trp)
c.3602C>G (p.Ser1201Trp)
c.3554C>G (p.Ser1185Trp)
c.3323C>G (p.Ser1108Trp)
c.3224C>G (p.Ser1075Trp)
c.2405C>G (p.Ser802Trp)
n.3956C>G
13g.51937642G=CA2091554242ATP7Bc.*1387C= (n.*1387C=)
c.*2481C= (n.*2481C=)
c.3116C= (p.Ser1039=)
c.3737C= (p.Ser1246=)
c.3404C= (p.Ser1135=)
c.3485C= (p.Ser1162=)
n.978C=
c.3503C= (p.Ser1168=)
n.3876C=
n.603C=
c.2672C= (p.Ser891=)
c.2447C= (p.Ser816=)
c.3542C= (p.Ser1181=)
c.1515C=
c.*838C= (n.*838C=)
n.4481C=
n.3082C=
c.3593C= (p.Ser1198=)
c.3641C= (p.Ser1214=)
c.3701C= (p.Ser1234=)
c.3251C= (p.Ser1084=)
c.1553C= (p.Ser518=)
c.1370C= (p.Ser457=)
c.3602C= (p.Ser1201=)
c.3554C= (p.Ser1185=)
c.3323C= (p.Ser1108=)
c.3224C= (p.Ser1075=)
c.2405C= (p.Ser802=)
n.3956C=
13g.51937642G>TCA388022398ATP7Bc.*1387C>A (n.*1387C>A)
c.*2481C>A (n.*2481C>A)
c.3116C>A (p.Ser1039Ter)
c.3737C>A (p.Ser1246Ter)
c.3404C>A (p.Ser1135Ter)
c.3485C>A (p.Ser1162Ter)
n.978C>A
c.3503C>A (p.Ser1168Ter)
n.3876C>A
n.603C>A
c.2672C>A (p.Ser891Ter)
c.2447C>A (p.Ser816Ter)
c.3542C>A (p.Ser1181Ter)
c.1515C>A
c.*838C>A (n.*838C>A)
n.4481C>A
n.3082C>A
c.3593C>A (p.Ser1198Ter)
c.3641C>A (p.Ser1214Ter)
c.3701C>A (p.Ser1234Ter)
c.3251C>A (p.Ser1084Ter)
c.1553C>A (p.Ser518Ter)
c.1370C>A (p.Ser457Ter)
c.3602C>A (p.Ser1201Ter)
c.3554C>A (p.Ser1185Ter)
c.3323C>A (p.Ser1108Ter)
c.3224C>A (p.Ser1075Ter)
c.2405C>A (p.Ser802Ter)
n.3956C>A
13g.51937643A>CCA388022405ATP7Bc.*1386T>G (n.*1386T>G)
c.*2480T>G (n.*2480T>G)
c.3115T>G (p.Ser1039Ala)
c.3736T>G (p.Ser1246Ala)
c.3403T>G (p.Ser1135Ala)
c.3484T>G (p.Ser1162Ala)
n.977T>G
c.3502T>G (p.Ser1168Ala)
n.3875T>G
n.602T>G
c.2671T>G (p.Ser891Ala)
c.2446T>G (p.Ser816Ala)
c.3541T>G (p.Ser1181Ala)
c.1514T>G
c.*837T>G (n.*837T>G)
n.4480T>G
n.3081T>G
c.3592T>G (p.Ser1198Ala)
c.3640T>G (p.Ser1214Ala)
c.3700T>G (p.Ser1234Ala)
c.3250T>G (p.Ser1084Ala)
c.1552T>G (p.Ser518Ala)
c.1369T>G (p.Ser457Ala)
c.3601T>G (p.Ser1201Ala)
c.3553T>G (p.Ser1185Ala)
c.3322T>G (p.Ser1108Ala)
c.3223T>G (p.Ser1075Ala)
c.2404T>G (p.Ser802Ala)
n.3955T>G
13g.51937643A>GCA388022404ATP7Bc.*1386T>C (n.*1386T>C)
c.*2480T>C (n.*2480T>C)
c.3115T>C (p.Ser1039Pro)
c.3736T>C (p.Ser1246Pro)
c.3403T>C (p.Ser1135Pro)
c.3484T>C (p.Ser1162Pro)
n.977T>C
c.3502T>C (p.Ser1168Pro)
n.3875T>C
n.602T>C
c.2671T>C (p.Ser891Pro)
c.2446T>C (p.Ser816Pro)
c.3541T>C (p.Ser1181Pro)
c.1514T>C
c.*837T>C (n.*837T>C)
n.4480T>C
n.3081T>C
c.3592T>C (p.Ser1198Pro)
c.3640T>C (p.Ser1214Pro)
c.3700T>C (p.Ser1234Pro)
c.3250T>C (p.Ser1084Pro)
c.1552T>C (p.Ser518Pro)
c.1369T>C (p.Ser457Pro)
c.3601T>C (p.Ser1201Pro)
c.3553T>C (p.Ser1185Pro)
c.3322T>C (p.Ser1108Pro)
c.3223T>C (p.Ser1075Pro)
c.2404T>C (p.Ser802Pro)
n.3955T>C
13g.51937643A>TCA388022400ATP7Bc.*1386T>A (n.*1386T>A)
c.*2480T>A (n.*2480T>A)
c.3115T>A (p.Ser1039Thr)
c.3736T>A (p.Ser1246Thr)
c.3403T>A (p.Ser1135Thr)
c.3484T>A (p.Ser1162Thr)
n.977T>A
c.3502T>A (p.Ser1168Thr)
n.3875T>A
n.602T>A
c.2671T>A (p.Ser891Thr)
c.2446T>A (p.Ser816Thr)
c.3541T>A (p.Ser1181Thr)
c.1514T>A
c.*837T>A (n.*837T>A)
n.4480T>A
n.3081T>A
c.3592T>A (p.Ser1198Thr)
c.3640T>A (p.Ser1214Thr)
c.3700T>A (p.Ser1234Thr)
c.3250T>A (p.Ser1084Thr)
c.1552T>A (p.Ser518Thr)
c.1369T>A (p.Ser457Thr)
c.3601T>A (p.Ser1201Thr)
c.3553T>A (p.Ser1185Thr)
c.3322T>A (p.Ser1108Thr)
c.3223T>A (p.Ser1075Thr)
c.2404T>A (p.Ser802Thr)
n.3955T>A
13g.51937644A>CCA484024715ATP7Bc.*1385T>G (n.*1385T>G)
c.*2479T>G (n.*2479T>G)
c.3114T>G (p.Pro1038=)
c.3735T>G (p.Pro1245=)
c.3402T>G (p.Pro1134=)
c.3483T>G (p.Pro1161=)
n.976T>G
c.3501T>G (p.Pro1167=)
n.3874T>G
n.601T>G
c.2670T>G (p.Pro890=)
c.2445T>G (p.Pro815=)
c.3540T>G (p.Pro1180=)
c.1513T>G
c.*836T>G (n.*836T>G)
n.4479T>G
n.3080T>G
c.3591T>G (p.Pro1197=)
c.3639T>G (p.Pro1213=)
c.3699T>G (p.Pro1233=)
c.3249T>G (p.Pro1083=)
c.1551T>G (p.Pro517=)
c.1368T>G (p.Pro456=)
c.3600T>G (p.Pro1200=)
c.3552T>G (p.Pro1184=)
c.3321T>G (p.Pro1107=)
c.3222T>G (p.Pro1074=)
c.2403T>G (p.Pro801=)
n.3954T>G
 COSMIC
13g.51937644A>GCA484024717ATP7Bc.*1385T>C (n.*1385T>C)
c.*2479T>C (n.*2479T>C)
c.3114T>C (p.Pro1038=)
c.3735T>C (p.Pro1245=)
c.3402T>C (p.Pro1134=)
c.3483T>C (p.Pro1161=)
n.976T>C
c.3501T>C (p.Pro1167=)
n.3874T>C
n.601T>C
c.2670T>C (p.Pro890=)
c.2445T>C (p.Pro815=)
c.3540T>C (p.Pro1180=)
c.1513T>C
c.*836T>C (n.*836T>C)
n.4479T>C
n.3080T>C
c.3591T>C (p.Pro1197=)
c.3639T>C (p.Pro1213=)
c.3699T>C (p.Pro1233=)
c.3249T>C (p.Pro1083=)
c.1551T>C (p.Pro517=)
c.1368T>C (p.Pro456=)
c.3600T>C (p.Pro1200=)
c.3552T>C (p.Pro1184=)
c.3321T>C (p.Pro1107=)
c.3222T>C (p.Pro1074=)
c.2403T>C (p.Pro801=)
n.3954T>C
13g.51937644A>TCA484024718ATP7Bc.*1385T>A (n.*1385T>A)
c.*2479T>A (n.*2479T>A)
c.3114T>A (p.Pro1038=)
c.3735T>A (p.Pro1245=)
c.3402T>A (p.Pro1134=)
c.3483T>A (p.Pro1161=)
n.976T>A
c.3501T>A (p.Pro1167=)
n.3874T>A
n.601T>A
c.2670T>A (p.Pro890=)
c.2445T>A (p.Pro815=)
c.3540T>A (p.Pro1180=)
c.1513T>A
c.*836T>A (n.*836T>A)
n.4479T>A
n.3080T>A
c.3591T>A (p.Pro1197=)
c.3639T>A (p.Pro1213=)
c.3699T>A (p.Pro1233=)
c.3249T>A (p.Pro1083=)
c.1551T>A (p.Pro517=)
c.1368T>A (p.Pro456=)
c.3600T>A (p.Pro1200=)
c.3552T>A (p.Pro1184=)
c.3321T>A (p.Pro1107=)
c.3222T>A (p.Pro1074=)
c.2403T>A (p.Pro801=)
n.3954T>A
13g.51937645G>ACA388022408ATP7Bc.*1384C>T (n.*1384C>T)
c.*2478C>T (n.*2478C>T)
c.3113C>T (p.Pro1038Leu)
c.3734C>T (p.Pro1245Leu)
c.3401C>T (p.Pro1134Leu)
c.3482C>T (p.Pro1161Leu)
n.975C>T
c.3500C>T (p.Pro1167Leu)
n.3873C>T
n.600C>T
c.2669C>T (p.Pro890Leu)
c.2444C>T (p.Pro815Leu)
c.3539C>T (p.Pro1180Leu)
c.1512C>T
c.*835C>T (n.*835C>T)
n.4478C>T
n.3079C>T
c.3590C>T (p.Pro1197Leu)
c.3638C>T (p.Pro1213Leu)
c.3698C>T (p.Pro1233Leu)
c.3248C>T (p.Pro1083Leu)
c.1550C>T (p.Pro517Leu)
c.1367C>T (p.Pro456Leu)
c.3599C>T (p.Pro1200Leu)
c.3551C>T (p.Pro1184Leu)
c.3320C>T (p.Pro1107Leu)
c.3221C>T (p.Pro1074Leu)
c.2402C>T (p.Pro801Leu)
n.3953C>T
13g.51937645G>CCA388022416ATP7Bc.*1384C>G (n.*1384C>G)
c.*2478C>G (n.*2478C>G)
c.3113C>G (p.Pro1038Arg)
c.3734C>G (p.Pro1245Arg)
c.3401C>G (p.Pro1134Arg)
c.3482C>G (p.Pro1161Arg)
n.975C>G
c.3500C>G (p.Pro1167Arg)
n.3873C>G
n.600C>G
c.2669C>G (p.Pro890Arg)
c.2444C>G (p.Pro815Arg)
c.3539C>G (p.Pro1180Arg)
c.1512C>G
c.*835C>G (n.*835C>G)
n.4478C>G
n.3079C>G
c.3590C>G (p.Pro1197Arg)
c.3638C>G (p.Pro1213Arg)
c.3698C>G (p.Pro1233Arg)
c.3248C>G (p.Pro1083Arg)
c.1550C>G (p.Pro517Arg)
c.1367C>G (p.Pro456Arg)
c.3599C>G (p.Pro1200Arg)
c.3551C>G (p.Pro1184Arg)
c.3320C>G (p.Pro1107Arg)
c.3221C>G (p.Pro1074Arg)
c.2402C>G (p.Pro801Arg)
n.3953C>G
13g.51937645G>TCA388022411ATP7Bc.*1384C>A (n.*1384C>A)
c.*2478C>A (n.*2478C>A)
c.3113C>A (p.Pro1038His)
c.3734C>A (p.Pro1245His)
c.3401C>A (p.Pro1134His)
c.3482C>A (p.Pro1161His)
n.975C>A
c.3500C>A (p.Pro1167His)
n.3873C>A
n.600C>A
c.2669C>A (p.Pro890His)
c.2444C>A (p.Pro815His)
c.3539C>A (p.Pro1180His)
c.1512C>A
c.*835C>A (n.*835C>A)
n.4478C>A
n.3079C>A
c.3590C>A (p.Pro1197His)
c.3638C>A (p.Pro1213His)
c.3698C>A (p.Pro1233His)
c.3248C>A (p.Pro1083His)
c.1550C>A (p.Pro517His)
c.1367C>A (p.Pro456His)
c.3599C>A (p.Pro1200His)
c.3551C>A (p.Pro1184His)
c.3320C>A (p.Pro1107His)
c.3221C>A (p.Pro1074His)
c.2402C>A (p.Pro801His)
n.3953C>A
13g.51937646G>ACA171322ATP7Bc.*1383C>T (n.*1383C>T)
c.*2477C>T (n.*2477C>T)
c.3112C>T (p.Pro1038Ser)
c.3733C>T (p.Pro1245Ser)
c.3400C>T (p.Pro1134Ser)
c.3481C>T (p.Pro1161Ser)
n.974C>T
c.3499C>T (p.Pro1167Ser)
n.3872C>T
n.599C>T
c.2668C>T (p.Pro890Ser)
c.2443C>T (p.Pro815Ser)
c.3538C>T (p.Pro1180Ser)
c.1511C>T
c.*834C>T (n.*834C>T)
n.4477C>T
n.3078C>T
c.3589C>T (p.Pro1197Ser)
c.3637C>T (p.Pro1213Ser)
c.3697C>T (p.Pro1233Ser)
c.3247C>T (p.Pro1083Ser)
c.1549C>T (p.Pro517Ser)
c.1366C>T (p.Pro456Ser)
c.3598C>T (p.Pro1200Ser)
c.3550C>T (p.Pro1184Ser)
c.3319C>T (p.Pro1107Ser)
c.3220C>T (p.Pro1074Ser)
c.2401C>T (p.Pro801Ser)
n.3952C>T
 ClinVar dbSNP
13g.51937646G>CCA388022433ATP7Bc.*1383C>G (n.*1383C>G)
c.*2477C>G (n.*2477C>G)
c.3112C>G (p.Pro1038Ala)
c.3733C>G (p.Pro1245Ala)
c.3400C>G (p.Pro1134Ala)
c.3481C>G (p.Pro1161Ala)
n.974C>G
c.3499C>G (p.Pro1167Ala)
n.3872C>G
n.599C>G
c.2668C>G (p.Pro890Ala)
c.2443C>G (p.Pro815Ala)
c.3538C>G (p.Pro1180Ala)
c.1511C>G
c.*834C>G (n.*834C>G)
n.4477C>G
n.3078C>G
c.3589C>G (p.Pro1197Ala)
c.3637C>G (p.Pro1213Ala)
c.3697C>G (p.Pro1233Ala)
c.3247C>G (p.Pro1083Ala)
c.1549C>G (p.Pro517Ala)
c.1366C>G (p.Pro456Ala)
c.3598C>G (p.Pro1200Ala)
c.3550C>G (p.Pro1184Ala)
c.3319C>G (p.Pro1107Ala)
c.3220C>G (p.Pro1074Ala)
c.2401C>G (p.Pro801Ala)
n.3952C>G
 ClinVar dbSNP gnomAD v4
13g.51937646G=CA2091554255ATP7Bc.*1383C= (n.*1383C=)
c.*2477C= (n.*2477C=)
c.3112C= (p.Pro1038=)
c.3733C= (p.Pro1245=)
c.3400C= (p.Pro1134=)
c.3481C= (p.Pro1161=)
n.974C=
c.3499C= (p.Pro1167=)
n.3872C=
n.599C=
c.2668C= (p.Pro890=)
c.2443C= (p.Pro815=)
c.3538C= (p.Pro1180=)
c.1511C=
c.*834C= (n.*834C=)
n.4477C=
n.3078C=
c.3589C= (p.Pro1197=)
c.3637C= (p.Pro1213=)
c.3697C= (p.Pro1233=)
c.3247C= (p.Pro1083=)
c.1549C= (p.Pro517=)
c.1366C= (p.Pro456=)
c.3598C= (p.Pro1200=)
c.3550C= (p.Pro1184=)
c.3319C= (p.Pro1107=)
c.3220C= (p.Pro1074=)
c.2401C= (p.Pro801=)
n.3952C=
13g.51937646G>TCA388022430ATP7Bc.*1383C>A (n.*1383C>A)
c.*2477C>A (n.*2477C>A)
c.3112C>A (p.Pro1038Thr)
c.3733C>A (p.Pro1245Thr)
c.3400C>A (p.Pro1134Thr)
c.3481C>A (p.Pro1161Thr)
n.974C>A
c.3499C>A (p.Pro1167Thr)
n.3872C>A
n.599C>A
c.2668C>A (p.Pro890Thr)
c.2443C>A (p.Pro815Thr)
c.3538C>A (p.Pro1180Thr)
c.1511C>A
c.*834C>A (n.*834C>A)
n.4477C>A
n.3078C>A
c.3589C>A (p.Pro1197Thr)
c.3637C>A (p.Pro1213Thr)
c.3697C>A (p.Pro1233Thr)
c.3247C>A (p.Pro1083Thr)
c.1549C>A (p.Pro517Thr)
c.1366C>A (p.Pro456Thr)
c.3598C>A (p.Pro1200Thr)
c.3550C>A (p.Pro1184Thr)
c.3319C>A (p.Pro1107Thr)
c.3220C>A (p.Pro1074Thr)
c.2401C>A (p.Pro801Thr)
n.3952C>A
13g.51937647C>ACA6988578ATP7Bc.*1382G>T (n.*1382G>T)
c.*2476G>T (n.*2476G>T)
c.3111G>T (p.Leu1037=)
c.3732G>T (p.Leu1244=)
c.3399G>T (p.Leu1133=)
c.3480G>T (p.Leu1160=)
n.973G>T
c.3498G>T (p.Leu1166=)
n.3871G>T
n.598G>T
c.2667G>T (p.Leu889=)
c.2442G>T (p.Leu814=)
c.3537G>T (p.Leu1179=)
c.1510G>T
c.*833G>T (n.*833G>T)
n.4476G>T
n.3077G>T
c.3588G>T (p.Leu1196=)
c.3636G>T (p.Leu1212=)
c.3696G>T (p.Leu1232=)
c.3246G>T (p.Leu1082=)
c.1548G>T (p.Leu516=)
c.1365G>T (p.Leu455=)
c.3597G>T (p.Leu1199=)
c.3549G>T (p.Leu1183=)
c.3318G>T (p.Leu1106=)
c.3219G>T (p.Leu1073=)
c.2400G>T (p.Leu800=)
n.3951G>T
 ClinVar dbSNP ExAC gnomAD v2
13g.51937647C=CA2091554260ATP7Bc.*1382G= (n.*1382G=)
c.*2476G= (n.*2476G=)
c.3111G= (p.Leu1037=)
c.3732G= (p.Leu1244=)
c.3399G= (p.Leu1133=)
c.3480G= (p.Leu1160=)
n.973G=
c.3498G= (p.Leu1166=)
n.3871G=
n.598G=
c.2667G= (p.Leu889=)
c.2442G= (p.Leu814=)
c.3537G= (p.Leu1179=)
c.1510G=
c.*833G= (n.*833G=)
n.4476G=
n.3077G=
c.3588G= (p.Leu1196=)
c.3636G= (p.Leu1212=)
c.3696G= (p.Leu1232=)
c.3246G= (p.Leu1082=)
c.1548G= (p.Leu516=)
c.1365G= (p.Leu455=)
c.3597G= (p.Leu1199=)
c.3549G= (p.Leu1183=)
c.3318G= (p.Leu1106=)
c.3219G= (p.Leu1073=)
c.2400G= (p.Leu800=)
n.3951G=
13g.51937647C>GCA484024722ATP7Bc.*1382G>C (n.*1382G>C)
c.*2476G>C (n.*2476G>C)
c.3111G>C (p.Leu1037=)
c.3732G>C (p.Leu1244=)
c.3399G>C (p.Leu1133=)
c.3480G>C (p.Leu1160=)
n.973G>C
c.3498G>C (p.Leu1166=)
n.3871G>C
n.598G>C
c.2667G>C (p.Leu889=)
c.2442G>C (p.Leu814=)
c.3537G>C (p.Leu1179=)
c.1510G>C
c.*833G>C (n.*833G>C)
n.4476G>C
n.3077G>C
c.3588G>C (p.Leu1196=)
c.3636G>C (p.Leu1212=)
c.3696G>C (p.Leu1232=)
c.3246G>C (p.Leu1082=)
c.1548G>C (p.Leu516=)
c.1365G>C (p.Leu455=)
c.3597G>C (p.Leu1199=)
c.3549G>C (p.Leu1183=)
c.3318G>C (p.Leu1106=)
c.3219G>C (p.Leu1073=)
c.2400G>C (p.Leu800=)
n.3951G>C
13g.51937647C>TCA484024724ATP7Bc.*1382G>A (n.*1382G>A)
c.*2476G>A (n.*2476G>A)
c.3111G>A (p.Leu1037=)
c.3732G>A (p.Leu1244=)
c.3399G>A (p.Leu1133=)
c.3480G>A (p.Leu1160=)
n.973G>A
c.3498G>A (p.Leu1166=)
n.3871G>A
n.598G>A
c.2667G>A (p.Leu889=)
c.2442G>A (p.Leu814=)
c.3537G>A (p.Leu1179=)
c.1510G>A
c.*833G>A (n.*833G>A)
n.4476G>A
n.3077G>A
c.3588G>A (p.Leu1196=)
c.3636G>A (p.Leu1212=)
c.3696G>A (p.Leu1232=)
c.3246G>A (p.Leu1082=)
c.1548G>A (p.Leu516=)
c.1365G>A (p.Leu455=)
c.3597G>A (p.Leu1199=)
c.3549G>A (p.Leu1183=)
c.3318G>A (p.Leu1106=)
c.3219G>A (p.Leu1073=)
c.2400G>A (p.Leu800=)
n.3951G>A
13g.51937648delCA2695218765ATP7Bc.*1381del (n.*1381del)
c.*2475del (n.*2475del)
c.3110del (p.Leu1037ArgfsTer?)
c.3731del (p.Leu1244ArgfsTer?)
c.3398del (p.Leu1133ArgfsTer?)
c.3479del (p.Leu1160ArgfsTer?)
n.972del
c.3497del (p.Leu1166ArgfsTer?)
n.3870del
n.597del
c.2666del (p.Leu889ArgfsTer?)
c.2441del (p.Leu814ArgfsTer?)
c.3536del (p.Leu1179ArgfsTer?)
c.1509del
c.*832del (n.*832del)
n.4475del
n.3076del
c.3587del (p.Leu1196ArgfsTer?)
c.3635del (p.Leu1212ArgfsTer?)
c.3695del (p.Leu1232ArgfsTer?)
c.3245del (p.Leu1082ArgfsTer?)
c.1547del (p.Leu516ArgfsTer?)
c.1364del (p.Leu455ArgfsTer?)
c.3596del (p.Leu1199ArgfsTer?)
c.3548del (p.Leu1183ArgfsTer?)
c.3317del (p.Leu1106ArgfsTer?)
c.3218del (p.Leu1073ArgfsTer?)
c.2399del (p.Leu800ArgfsTer?)
n.3950del
13g.51937648A>CCA388022439ATP7Bc.*1381T>G (n.*1381T>G)
c.*2475T>G (n.*2475T>G)
c.3110T>G (p.Leu1037Arg)
c.3731T>G (p.Leu1244Arg)
c.3398T>G (p.Leu1133Arg)
c.3479T>G (p.Leu1160Arg)
n.972T>G
c.3497T>G (p.Leu1166Arg)
n.3870T>G
n.597T>G
c.2666T>G (p.Leu889Arg)
c.2441T>G (p.Leu814Arg)
c.3536T>G (p.Leu1179Arg)
c.1509T>G
c.*832T>G (n.*832T>G)
n.4475T>G
n.3076T>G
c.3587T>G (p.Leu1196Arg)
c.3635T>G (p.Leu1212Arg)
c.3695T>G (p.Leu1232Arg)
c.3245T>G (p.Leu1082Arg)
c.1547T>G (p.Leu516Arg)
c.1364T>G (p.Leu455Arg)
c.3596T>G (p.Leu1199Arg)
c.3548T>G (p.Leu1183Arg)
c.3317T>G (p.Leu1106Arg)
c.3218T>G (p.Leu1073Arg)
c.2399T>G (p.Leu800Arg)
n.3950T>G
13g.51937648A>GCA388022442ATP7Bc.*1381T>C (n.*1381T>C)
c.*2475T>C (n.*2475T>C)
c.3110T>C (p.Leu1037Pro)
c.3731T>C (p.Leu1244Pro)
c.3398T>C (p.Leu1133Pro)
c.3479T>C (p.Leu1160Pro)
n.972T>C
c.3497T>C (p.Leu1166Pro)
n.3870T>C
n.597T>C
c.2666T>C (p.Leu889Pro)
c.2441T>C (p.Leu814Pro)
c.3536T>C (p.Leu1179Pro)
c.1509T>C
c.*832T>C (n.*832T>C)
n.4475T>C
n.3076T>C
c.3587T>C (p.Leu1196Pro)
c.3635T>C (p.Leu1212Pro)
c.3695T>C (p.Leu1232Pro)
c.3245T>C (p.Leu1082Pro)
c.1547T>C (p.Leu516Pro)
c.1364T>C (p.Leu455Pro)
c.3596T>C (p.Leu1199Pro)
c.3548T>C (p.Leu1183Pro)
c.3317T>C (p.Leu1106Pro)
c.3218T>C (p.Leu1073Pro)
c.2399T>C (p.Leu800Pro)
n.3950T>C
 ClinVar dbSNP
13g.51937648A>TCA388022445ATP7Bc.*1381T>A (n.*1381T>A)
c.*2475T>A (n.*2475T>A)
c.3110T>A (p.Leu1037Gln)
c.3731T>A (p.Leu1244Gln)
c.3398T>A (p.Leu1133Gln)
c.3479T>A (p.Leu1160Gln)
n.972T>A
c.3497T>A (p.Leu1166Gln)
n.3870T>A
n.597T>A
c.2666T>A (p.Leu889Gln)
c.2441T>A (p.Leu814Gln)
c.3536T>A (p.Leu1179Gln)
c.1509T>A
c.*832T>A (n.*832T>A)
n.4475T>A
n.3076T>A
c.3587T>A (p.Leu1196Gln)
c.3635T>A (p.Leu1212Gln)
c.3695T>A (p.Leu1232Gln)
c.3245T>A (p.Leu1082Gln)
c.1547T>A (p.Leu516Gln)
c.1364T>A (p.Leu455Gln)
c.3596T>A (p.Leu1199Gln)
c.3548T>A (p.Leu1183Gln)
c.3317T>A (p.Leu1106Gln)
c.3218T>A (p.Leu1073Gln)
c.2399T>A (p.Leu800Gln)
n.3950T>A
13g.51937649G>ACA484024731ATP7Bc.*1380C>T (n.*1380C>T)
c.*2474C>T (n.*2474C>T)
c.3109C>T (p.Leu1037=)
c.3730C>T (p.Leu1244=)
c.3397C>T (p.Leu1133=)
c.3478C>T (p.Leu1160=)
n.971C>T
c.3496C>T (p.Leu1166=)
n.3869C>T
n.596C>T
c.2665C>T (p.Leu889=)
c.2440C>T (p.Leu814=)
c.3535C>T (p.Leu1179=)
c.1508C>T
c.*831C>T (n.*831C>T)
n.4474C>T
n.3075C>T
c.3586C>T (p.Leu1196=)
c.3634C>T (p.Leu1212=)
c.3694C>T (p.Leu1232=)
c.3244C>T (p.Leu1082=)
c.1546C>T (p.Leu516=)
c.1363C>T (p.Leu455=)
c.3595C>T (p.Leu1199=)
c.3547C>T (p.Leu1183=)
c.3316C>T (p.Leu1106=)
c.3217C>T (p.Leu1073=)
c.2398C>T (p.Leu800=)
n.3949C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937649G>CCA388022459ATP7Bc.*1380C>G (n.*1380C>G)
c.*2474C>G (n.*2474C>G)
c.3109C>G (p.Leu1037Val)
c.3730C>G (p.Leu1244Val)
c.3397C>G (p.Leu1133Val)
c.3478C>G (p.Leu1160Val)
n.971C>G
c.3496C>G (p.Leu1166Val)
n.3869C>G
n.596C>G
c.2665C>G (p.Leu889Val)
c.2440C>G (p.Leu814Val)
c.3535C>G (p.Leu1179Val)
c.1508C>G
c.*831C>G (n.*831C>G)
n.4474C>G
n.3075C>G
c.3586C>G (p.Leu1196Val)
c.3634C>G (p.Leu1212Val)
c.3694C>G (p.Leu1232Val)
c.3244C>G (p.Leu1082Val)
c.1546C>G (p.Leu516Val)
c.1363C>G (p.Leu455Val)
c.3595C>G (p.Leu1199Val)
c.3547C>G (p.Leu1183Val)
c.3316C>G (p.Leu1106Val)
c.3217C>G (p.Leu1073Val)
c.2398C>G (p.Leu800Val)
n.3949C>G
13g.51937649G=CA2091554265ATP7Bc.*1380C= (n.*1380C=)
c.*2474C= (n.*2474C=)
c.3109C= (p.Leu1037=)
c.3730C= (p.Leu1244=)
c.3397C= (p.Leu1133=)
c.3478C= (p.Leu1160=)
n.971C=
c.3496C= (p.Leu1166=)
n.3869C=
n.596C=
c.2665C= (p.Leu889=)
c.2440C= (p.Leu814=)
c.3535C= (p.Leu1179=)
c.1508C=
c.*831C= (n.*831C=)
n.4474C=
n.3075C=
c.3586C= (p.Leu1196=)
c.3634C= (p.Leu1212=)
c.3694C= (p.Leu1232=)
c.3244C= (p.Leu1082=)
c.1546C= (p.Leu516=)
c.1363C= (p.Leu455=)
c.3595C= (p.Leu1199=)
c.3547C= (p.Leu1183=)
c.3316C= (p.Leu1106=)
c.3217C= (p.Leu1073=)
c.2398C= (p.Leu800=)
n.3949C=
13g.51937649G>TCA388022460ATP7Bc.*1380C>A (n.*1380C>A)
c.*2474C>A (n.*2474C>A)
c.3109C>A (p.Leu1037Met)
c.3730C>A (p.Leu1244Met)
c.3397C>A (p.Leu1133Met)
c.3478C>A (p.Leu1160Met)
n.971C>A
c.3496C>A (p.Leu1166Met)
n.3869C>A
n.596C>A
c.2665C>A (p.Leu889Met)
c.2440C>A (p.Leu814Met)
c.3535C>A (p.Leu1179Met)
c.1508C>A
c.*831C>A (n.*831C>A)
n.4474C>A
n.3075C>A
c.3586C>A (p.Leu1196Met)
c.3634C>A (p.Leu1212Met)
c.3694C>A (p.Leu1232Met)
c.3244C>A (p.Leu1082Met)
c.1546C>A (p.Leu516Met)
c.1363C>A (p.Leu455Met)
c.3595C>A (p.Leu1199Met)
c.3547C>A (p.Leu1183Met)
c.3316C>A (p.Leu1106Met)
c.3217C>A (p.Leu1073Met)
c.2398C>A (p.Leu800Met)
n.3949C>A
13g.51937650delCA2623119368ATP7Bc.*1379del (n.*1379del)
c.*2473del (n.*2473del)
c.3108del (p.Leu1037CysfsTer?)
c.3729del (p.Leu1244CysfsTer?)
c.3396del (p.Leu1133CysfsTer?)
c.3477del (p.Leu1160CysfsTer?)
n.970del
c.3495del (p.Leu1166CysfsTer?)
n.3868del
n.595del
c.2664del (p.Leu889CysfsTer?)
c.2439del (p.Leu814CysfsTer?)
c.3534del (p.Leu1179CysfsTer?)
c.1507del
c.*830del (n.*830del)
n.4473del
n.3074del
c.3585del (p.Leu1196CysfsTer?)
c.3633del (p.Leu1212CysfsTer?)
c.3693del (p.Leu1232CysfsTer?)
c.3243del (p.Leu1082CysfsTer?)
c.1545del (p.Leu516CysfsTer?)
c.1362del (p.Leu455CysfsTer?)
c.3594del (p.Leu1199CysfsTer?)
c.3546del (p.Leu1183CysfsTer?)
c.3315del (p.Leu1106CysfsTer?)
c.3216del (p.Leu1073CysfsTer?)
c.2397del (p.Leu800CysfsTer?)
n.3948del
 gnomAD v4
13g.51937650C>ACA484024735ATP7Bc.*1379G>T (n.*1379G>T)
c.*2473G>T (n.*2473G>T)
c.3108G>T (p.Val1036=)
c.3729G>T (p.Val1243=)
c.3396G>T (p.Val1132=)
c.3477G>T (p.Val1159=)
n.970G>T
c.3495G>T (p.Val1165=)
n.3868G>T
n.595G>T
c.2664G>T (p.Val888=)
c.2439G>T (p.Val813=)
c.3534G>T (p.Val1178=)
c.1507G>T
c.*830G>T (n.*830G>T)
n.4473G>T
n.3074G>T
c.3585G>T (p.Val1195=)
c.3633G>T (p.Val1211=)
c.3693G>T (p.Val1231=)
c.3243G>T (p.Val1081=)
c.1545G>T (p.Val515=)
c.1362G>T (p.Val454=)
c.3594G>T (p.Val1198=)
c.3546G>T (p.Val1182=)
c.3315G>T (p.Val1105=)
c.3216G>T (p.Val1072=)
c.2397G>T (p.Val799=)
n.3948G>T
13g.51937650C=CA2091554268ATP7Bc.*1379G= (n.*1379G=)
c.*2473G= (n.*2473G=)
c.3108G= (p.Val1036=)
c.3729G= (p.Val1243=)
c.3396G= (p.Val1132=)
c.3477G= (p.Val1159=)
n.970G=
c.3495G= (p.Val1165=)
n.3868G=
n.595G=
c.2664G= (p.Val888=)
c.2439G= (p.Val813=)
c.3534G= (p.Val1178=)
c.1507G=
c.*830G= (n.*830G=)
n.4473G=
n.3074G=
c.3585G= (p.Val1195=)
c.3633G= (p.Val1211=)
c.3693G= (p.Val1231=)
c.3243G= (p.Val1081=)
c.1545G= (p.Val515=)
c.1362G= (p.Val454=)
c.3594G= (p.Val1198=)
c.3546G= (p.Val1182=)
c.3315G= (p.Val1105=)
c.3216G= (p.Val1072=)
c.2397G= (p.Val799=)
n.3948G=
13g.51937650C>GCA484024737ATP7Bc.*1379G>C (n.*1379G>C)
c.*2473G>C (n.*2473G>C)
c.3108G>C (p.Val1036=)
c.3729G>C (p.Val1243=)
c.3396G>C (p.Val1132=)
c.3477G>C (p.Val1159=)
n.970G>C
c.3495G>C (p.Val1165=)
n.3868G>C
n.595G>C
c.2664G>C (p.Val888=)
c.2439G>C (p.Val813=)
c.3534G>C (p.Val1178=)
c.1507G>C
c.*830G>C (n.*830G>C)
n.4473G>C
n.3074G>C
c.3585G>C (p.Val1195=)
c.3633G>C (p.Val1211=)
c.3693G>C (p.Val1231=)
c.3243G>C (p.Val1081=)
c.1545G>C (p.Val515=)
c.1362G>C (p.Val454=)
c.3594G>C (p.Val1198=)
c.3546G>C (p.Val1182=)
c.3315G>C (p.Val1105=)
c.3216G>C (p.Val1072=)
c.2397G>C (p.Val799=)
n.3948G>C
 dbSNP
13g.51937650C>TCA484024738ATP7Bc.*1379G>A (n.*1379G>A)
c.*2473G>A (n.*2473G>A)
c.3108G>A (p.Val1036=)
c.3729G>A (p.Val1243=)
c.3396G>A (p.Val1132=)
c.3477G>A (p.Val1159=)
n.970G>A
c.3495G>A (p.Val1165=)
n.3868G>A
n.595G>A
c.2664G>A (p.Val888=)
c.2439G>A (p.Val813=)
c.3534G>A (p.Val1178=)
c.1507G>A
c.*830G>A (n.*830G>A)
n.4473G>A
n.3074G>A
c.3585G>A (p.Val1195=)
c.3633G>A (p.Val1211=)
c.3693G>A (p.Val1231=)
c.3243G>A (p.Val1081=)
c.1545G>A (p.Val515=)
c.1362G>A (p.Val454=)
c.3594G>A (p.Val1198=)
c.3546G>A (p.Val1182=)
c.3315G>A (p.Val1105=)
c.3216G>A (p.Val1072=)
c.2397G>A (p.Val799=)
n.3948G>A
 ClinVar dbSNP gnomAD v4
13g.51937651A=CA2091554272ATP7Bc.*1378T= (n.*1378T=)
c.*2472T= (n.*2472T=)
c.3107T= (p.Val1036=)
c.3728T= (p.Val1243=)
c.3395T= (p.Val1132=)
c.3476T= (p.Val1159=)
n.969T=
c.3494T= (p.Val1165=)
n.3867T=
n.594T=
c.2663T= (p.Val888=)
c.2438T= (p.Val813=)
c.3533T= (p.Val1178=)
c.1506T=
c.*829T= (n.*829T=)
n.4472T=
n.3073T=
c.3584T= (p.Val1195=)
c.3632T= (p.Val1211=)
c.3692T= (p.Val1231=)
c.3242T= (p.Val1081=)
c.1544T= (p.Val515=)
c.1361T= (p.Val454=)
c.3593T= (p.Val1198=)
c.3545T= (p.Val1182=)
c.3314T= (p.Val1105=)
c.3215T= (p.Val1072=)
c.2396T= (p.Val799=)
n.3947T=
13g.51937651A>CCA388022463ATP7Bc.*1378T>G (n.*1378T>G)
c.*2472T>G (n.*2472T>G)
c.3107T>G (p.Val1036Gly)
c.3728T>G (p.Val1243Gly)
c.3395T>G (p.Val1132Gly)
c.3476T>G (p.Val1159Gly)
n.969T>G
c.3494T>G (p.Val1165Gly)
n.3867T>G
n.594T>G
c.2663T>G (p.Val888Gly)
c.2438T>G (p.Val813Gly)
c.3533T>G (p.Val1178Gly)
c.1506T>G
c.*829T>G (n.*829T>G)
n.4472T>G
n.3073T>G
c.3584T>G (p.Val1195Gly)
c.3632T>G (p.Val1211Gly)
c.3692T>G (p.Val1231Gly)
c.3242T>G (p.Val1081Gly)
c.1544T>G (p.Val515Gly)
c.1361T>G (p.Val454Gly)
c.3593T>G (p.Val1198Gly)
c.3545T>G (p.Val1182Gly)
c.3314T>G (p.Val1105Gly)
c.3215T>G (p.Val1072Gly)
c.2396T>G (p.Val799Gly)
n.3947T>G
13g.51937651A>GCA6988579ATP7Bc.*1378T>C (n.*1378T>C)
c.*2472T>C (n.*2472T>C)
c.3107T>C (p.Val1036Ala)
c.3728T>C (p.Val1243Ala)
c.3395T>C (p.Val1132Ala)
c.3476T>C (p.Val1159Ala)
n.969T>C
c.3494T>C (p.Val1165Ala)
n.3867T>C
n.594T>C
c.2663T>C (p.Val888Ala)
c.2438T>C (p.Val813Ala)
c.3533T>C (p.Val1178Ala)
c.1506T>C
c.*829T>C (n.*829T>C)
n.4472T>C
n.3073T>C
c.3584T>C (p.Val1195Ala)
c.3632T>C (p.Val1211Ala)
c.3692T>C (p.Val1231Ala)
c.3242T>C (p.Val1081Ala)
c.1544T>C (p.Val515Ala)
c.1361T>C (p.Val454Ala)
c.3593T>C (p.Val1198Ala)
c.3545T>C (p.Val1182Ala)
c.3314T>C (p.Val1105Ala)
c.3215T>C (p.Val1072Ala)
c.2396T>C (p.Val799Ala)
n.3947T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937651A>TCA388022469ATP7Bc.*1378T>A (n.*1378T>A)
c.*2472T>A (n.*2472T>A)
c.3107T>A (p.Val1036Glu)
c.3728T>A (p.Val1243Glu)
c.3395T>A (p.Val1132Glu)
c.3476T>A (p.Val1159Glu)
n.969T>A
c.3494T>A (p.Val1165Glu)
n.3867T>A
n.594T>A
c.2663T>A (p.Val888Glu)
c.2438T>A (p.Val813Glu)
c.3533T>A (p.Val1178Glu)
c.1506T>A
c.*829T>A (n.*829T>A)
n.4472T>A
n.3073T>A
c.3584T>A (p.Val1195Glu)
c.3632T>A (p.Val1211Glu)
c.3692T>A (p.Val1231Glu)
c.3242T>A (p.Val1081Glu)
c.1544T>A (p.Val515Glu)
c.1361T>A (p.Val454Glu)
c.3593T>A (p.Val1198Glu)
c.3545T>A (p.Val1182Glu)
c.3314T>A (p.Val1105Glu)
c.3215T>A (p.Val1072Glu)
c.2396T>A (p.Val799Glu)
n.3947T>A
13g.51937651_51937652delinsACCA2091554275ATP7Bc.*1377_*1378delinsGT (n.*1377_*1378delinsGT)
c.*2471_*2472delinsGT (n.*2471_*2472delinsGT)
c.3106_3107delinsGT (p.Val1036=)
c.3727_3728delinsGT (p.Val1243=)
c.3394_3395delinsGT (p.Val1132=)
c.3475_3476delinsGT (p.Val1159=)
n.968_969delinsGT
c.3493_3494delinsGT (p.Val1165=)
n.3866_3867delinsGT
n.593_594delinsGT
c.2662_2663delinsGT (p.Val888=)
c.2437_2438delinsGT (p.Val813=)
c.3532_3533delinsGT (p.Val1178=)
c.1505_1506delinsGT
c.*828_*829delinsGT (n.*828_*829delinsGT)
n.4471_4472delinsGT
n.3072_3073delinsGT
c.3583_3584delinsGT (p.Val1195=)
c.3631_3632delinsGT (p.Val1211=)
c.3691_3692delinsGT (p.Val1231=)
c.3241_3242delinsGT (p.Val1081=)
c.1543_1544delinsGT (p.Val515=)
c.1360_1361delinsGT (p.Val454=)
c.3592_3593delinsGT (p.Val1198=)
c.3544_3545delinsGT (p.Val1182=)
c.3313_3314delinsGT (p.Val1105=)
c.3214_3215delinsGT (p.Val1072=)
c.2395_2396delinsGT (p.Val799=)
n.3946_3947delinsGT
13g.51937652C>ACA388022480ATP7Bc.*1377G>T (n.*1377G>T)
c.*2471G>T (n.*2471G>T)
c.3106G>T (p.Val1036Leu)
c.3727G>T (p.Val1243Leu)
c.3394G>T (p.Val1132Leu)
c.3475G>T (p.Val1159Leu)
n.968G>T
c.3493G>T (p.Val1165Leu)
n.3866G>T
n.593G>T
c.2662G>T (p.Val888Leu)
c.2437G>T (p.Val813Leu)
c.3532G>T (p.Val1178Leu)
c.1505G>T
c.*828G>T (n.*828G>T)
n.4471G>T
n.3072G>T
c.3583G>T (p.Val1195Leu)
c.3631G>T (p.Val1211Leu)
c.3691G>T (p.Val1231Leu)
c.3241G>T (p.Val1081Leu)
c.1543G>T (p.Val515Leu)
c.1360G>T (p.Val454Leu)
c.3592G>T (p.Val1198Leu)
c.3544G>T (p.Val1182Leu)
c.3313G>T (p.Val1105Leu)
c.3214G>T (p.Val1072Leu)
c.2395G>T (p.Val799Leu)
n.3946G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937652C=CA2091554278ATP7Bc.*1377G= (n.*1377G=)
c.*2471G= (n.*2471G=)
c.3106G= (p.Val1036=)
c.3727G= (p.Val1243=)
c.3394G= (p.Val1132=)
c.3475G= (p.Val1159=)
n.968G=
c.3493G= (p.Val1165=)
n.3866G=
n.593G=
c.2662G= (p.Val888=)
c.2437G= (p.Val813=)
c.3532G= (p.Val1178=)
c.1505G=
c.*828G= (n.*828G=)
n.4471G=
n.3072G=
c.3583G= (p.Val1195=)
c.3631G= (p.Val1211=)
c.3691G= (p.Val1231=)
c.3241G= (p.Val1081=)
c.1543G= (p.Val515=)
c.1360G= (p.Val454=)
c.3592G= (p.Val1198=)
c.3544G= (p.Val1182=)
c.3313G= (p.Val1105=)
c.3214G= (p.Val1072=)
c.2395G= (p.Val799=)
n.3946G=
13g.51937652C>GCA388022477ATP7Bc.*1377G>C (n.*1377G>C)
c.*2471G>C (n.*2471G>C)
c.3106G>C (p.Val1036Leu)
c.3727G>C (p.Val1243Leu)
c.3394G>C (p.Val1132Leu)
c.3475G>C (p.Val1159Leu)
n.968G>C
c.3493G>C (p.Val1165Leu)
n.3866G>C
n.593G>C
c.2662G>C (p.Val888Leu)
c.2437G>C (p.Val813Leu)
c.3532G>C (p.Val1178Leu)
c.1505G>C
c.*828G>C (n.*828G>C)
n.4471G>C
n.3072G>C
c.3583G>C (p.Val1195Leu)
c.3631G>C (p.Val1211Leu)
c.3691G>C (p.Val1231Leu)
c.3241G>C (p.Val1081Leu)
c.1543G>C (p.Val515Leu)
c.1360G>C (p.Val454Leu)
c.3592G>C (p.Val1198Leu)
c.3544G>C (p.Val1182Leu)
c.3313G>C (p.Val1105Leu)
c.3214G>C (p.Val1072Leu)
c.2395G>C (p.Val799Leu)
n.3946G>C
13g.51937652C>TCA388022475ATP7Bc.*1377G>A (n.*1377G>A)
c.*2471G>A (n.*2471G>A)
c.3106G>A (p.Val1036Met)
c.3727G>A (p.Val1243Met)
c.3394G>A (p.Val1132Met)
c.3475G>A (p.Val1159Met)
n.968G>A
c.3493G>A (p.Val1165Met)
n.3866G>A
n.593G>A
c.2662G>A (p.Val888Met)
c.2437G>A (p.Val813Met)
c.3532G>A (p.Val1178Met)
c.1505G>A
c.*828G>A (n.*828G>A)
n.4471G>A
n.3072G>A
c.3583G>A (p.Val1195Met)
c.3631G>A (p.Val1211Met)
c.3691G>A (p.Val1231Met)
c.3241G>A (p.Val1081Met)
c.1543G>A (p.Val515Met)
c.1360G>A (p.Val454Met)
c.3592G>A (p.Val1198Met)
c.3544G>A (p.Val1182Met)
c.3313G>A (p.Val1105Met)
c.3214G>A (p.Val1072Met)
c.2395G>A (p.Val799Met)
n.3946G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51937653delCA2091554277ATP7Bc.*1377del (n.*1377del)
c.*2471del (n.*2471del)
c.3106del (p.Val1036CysfsTer?)
c.3727del (p.Val1243CysfsTer?)
c.3394del (p.Val1132CysfsTer?)
c.3475del (p.Val1159CysfsTer?)
n.968del
c.3493del (p.Val1165CysfsTer?)
n.3866del
n.593del
c.2662del (p.Val888CysfsTer?)
c.2437del (p.Val813CysfsTer?)
c.3532del (p.Val1178CysfsTer?)
c.1505del
c.*828del (n.*828del)
n.4471del
n.3072del
c.3583del (p.Val1195CysfsTer?)
c.3631del (p.Val1211CysfsTer?)
c.3691del (p.Val1231CysfsTer?)
c.3241del (p.Val1081CysfsTer?)
c.1543del (p.Val515CysfsTer?)
c.1360del (p.Val454CysfsTer?)
c.3592del (p.Val1198CysfsTer?)
c.3544del (p.Val1182CysfsTer?)
c.3313del (p.Val1105CysfsTer?)
c.3214del (p.Val1072CysfsTer?)
c.2395del (p.Val799CysfsTer?)
n.3946del
 ClinVar dbSNP gnomAD v4
13g.51937653C>ACA388022483ATP7Bc.*1376G>T (n.*1376G>T)
c.*2470G>T (n.*2470G>T)
c.3105G>T (p.Glu1035Asp)
c.3726G>T (p.Glu1242Asp)
c.3393G>T (p.Glu1131Asp)
c.3474G>T (p.Glu1158Asp)
n.967G>T
c.3492G>T (p.Glu1164Asp)
n.3865G>T
n.592G>T
c.2661G>T (p.Glu887Asp)
c.2436G>T (p.Glu812Asp)
c.3531G>T (p.Glu1177Asp)
c.1504G>T
c.*827G>T (n.*827G>T)
n.4470G>T
n.3071G>T
c.3582G>T (p.Glu1194Asp)
c.3630G>T (p.Glu1210Asp)
c.3690G>T (p.Glu1230Asp)
c.3240G>T (p.Glu1080Asp)
c.1542G>T (p.Glu514Asp)
c.1359G>T (p.Glu453Asp)
c.3591G>T (p.Glu1197Asp)
c.3543G>T (p.Glu1181Asp)
c.3312G>T (p.Glu1104Asp)
c.3213G>T (p.Glu1071Asp)
c.2394G>T (p.Glu798Asp)
n.3945G>T
13g.51937653C=CA2091554280ATP7Bc.*1376G= (n.*1376G=)
c.*2470G= (n.*2470G=)
c.3105G= (p.Glu1035=)
c.3726G= (p.Glu1242=)
c.3393G= (p.Glu1131=)
c.3474G= (p.Glu1158=)
n.967G=
c.3492G= (p.Glu1164=)
n.3865G=
n.592G=
c.2661G= (p.Glu887=)
c.2436G= (p.Glu812=)
c.3531G= (p.Glu1177=)
c.1504G=
c.*827G= (n.*827G=)
n.4470G=
n.3071G=
c.3582G= (p.Glu1194=)
c.3630G= (p.Glu1210=)
c.3690G= (p.Glu1230=)
c.3240G= (p.Glu1080=)
c.1542G= (p.Glu514=)
c.1359G= (p.Glu453=)
c.3591G= (p.Glu1197=)
c.3543G= (p.Glu1181=)
c.3312G= (p.Glu1104=)
c.3213G= (p.Glu1071=)
c.2394G= (p.Glu798=)
n.3945G=
13g.51937653C>GCA388022485ATP7Bc.*1376G>C (n.*1376G>C)
c.*2470G>C (n.*2470G>C)
c.3105G>C (p.Glu1035Asp)
c.3726G>C (p.Glu1242Asp)
c.3393G>C (p.Glu1131Asp)
c.3474G>C (p.Glu1158Asp)
n.967G>C
c.3492G>C (p.Glu1164Asp)
n.3865G>C
n.592G>C
c.2661G>C (p.Glu887Asp)
c.2436G>C (p.Glu812Asp)
c.3531G>C (p.Glu1177Asp)
c.1504G>C
c.*827G>C (n.*827G>C)
n.4470G>C
n.3071G>C
c.3582G>C (p.Glu1194Asp)
c.3630G>C (p.Glu1210Asp)
c.3690G>C (p.Glu1230Asp)
c.3240G>C (p.Glu1080Asp)
c.1542G>C (p.Glu514Asp)
c.1359G>C (p.Glu453Asp)
c.3591G>C (p.Glu1197Asp)
c.3543G>C (p.Glu1181Asp)
c.3312G>C (p.Glu1104Asp)
c.3213G>C (p.Glu1071Asp)
c.2394G>C (p.Glu798Asp)
n.3945G>C
13g.51937653C>TCA484024746ATP7Bc.*1376G>A (n.*1376G>A)
c.*2470G>A (n.*2470G>A)
c.3105G>A (p.Glu1035=)
c.3726G>A (p.Glu1242=)
c.3393G>A (p.Glu1131=)
c.3474G>A (p.Glu1158=)
n.967G>A
c.3492G>A (p.Glu1164=)
n.3865G>A
n.592G>A
c.2661G>A (p.Glu887=)
c.2436G>A (p.Glu812=)
c.3531G>A (p.Glu1177=)
c.1504G>A
c.*827G>A (n.*827G>A)
n.4470G>A
n.3071G>A
c.3582G>A (p.Glu1194=)
c.3630G>A (p.Glu1210=)
c.3690G>A (p.Glu1230=)
c.3240G>A (p.Glu1080=)
c.1542G>A (p.Glu514=)
c.1359G>A (p.Glu453=)
c.3591G>A (p.Glu1197=)
c.3543G>A (p.Glu1181=)
c.3312G>A (p.Glu1104=)
c.3213G>A (p.Glu1071=)
c.2394G>A (p.Glu798=)
n.3945G>A
 ClinVar dbSNP gnomAD v4
13g.51937654T>ACA388022499ATP7Bc.*1375A>T (n.*1375A>T)
c.*2469A>T (n.*2469A>T)
c.3104A>T (p.Glu1035Val)
c.3725A>T (p.Glu1242Val)
c.3392A>T (p.Glu1131Val)
c.3473A>T (p.Glu1158Val)
n.966A>T
c.3491A>T (p.Glu1164Val)
n.3864A>T
n.591A>T
c.2660A>T (p.Glu887Val)
c.2435A>T (p.Glu812Val)
c.3530A>T (p.Glu1177Val)
c.1503A>T
c.*826A>T (n.*826A>T)
n.4469A>T
n.3070A>T
c.3581A>T (p.Glu1194Val)
c.3629A>T (p.Glu1210Val)
c.3689A>T (p.Glu1230Val)
c.3239A>T (p.Glu1080Val)
c.1541A>T (p.Glu514Val)
c.1358A>T (p.Glu453Val)
c.3590A>T (p.Glu1197Val)
c.3542A>T (p.Glu1181Val)
c.3311A>T (p.Glu1104Val)
c.3212A>T (p.Glu1071Val)
c.2393A>T (p.Glu798Val)
n.3944A>T
13g.51937654T>CCA388022500ATP7Bc.*1375A>G (n.*1375A>G)
c.*2469A>G (n.*2469A>G)
c.3104A>G (p.Glu1035Gly)
c.3725A>G (p.Glu1242Gly)
c.3392A>G (p.Glu1131Gly)
c.3473A>G (p.Glu1158Gly)
n.966A>G
c.3491A>G (p.Glu1164Gly)
n.3864A>G
n.591A>G
c.2660A>G (p.Glu887Gly)
c.2435A>G (p.Glu812Gly)
c.3530A>G (p.Glu1177Gly)
c.1503A>G
c.*826A>G (n.*826A>G)
n.4469A>G
n.3070A>G
c.3581A>G (p.Glu1194Gly)
c.3629A>G (p.Glu1210Gly)
c.3689A>G (p.Glu1230Gly)
c.3239A>G (p.Glu1080Gly)
c.1541A>G (p.Glu514Gly)
c.1358A>G (p.Glu453Gly)
c.3590A>G (p.Glu1197Gly)
c.3542A>G (p.Glu1181Gly)
c.3311A>G (p.Glu1104Gly)
c.3212A>G (p.Glu1071Gly)
c.2393A>G (p.Glu798Gly)
n.3944A>G
 ClinVar
13g.51937654T>GCA388022504ATP7Bc.*1375A>C (n.*1375A>C)
c.*2469A>C (n.*2469A>C)
c.3104A>C (p.Glu1035Ala)
c.3725A>C (p.Glu1242Ala)
c.3392A>C (p.Glu1131Ala)
c.3473A>C (p.Glu1158Ala)
n.966A>C
c.3491A>C (p.Glu1164Ala)
n.3864A>C
n.591A>C
c.2660A>C (p.Glu887Ala)
c.2435A>C (p.Glu812Ala)
c.3530A>C (p.Glu1177Ala)
c.1503A>C
c.*826A>C (n.*826A>C)
n.4469A>C
n.3070A>C
c.3581A>C (p.Glu1194Ala)
c.3629A>C (p.Glu1210Ala)
c.3689A>C (p.Glu1230Ala)
c.3239A>C (p.Glu1080Ala)
c.1541A>C (p.Glu514Ala)
c.1358A>C (p.Glu453Ala)
c.3590A>C (p.Glu1197Ala)
c.3542A>C (p.Glu1181Ala)
c.3311A>C (p.Glu1104Ala)
c.3212A>C (p.Glu1071Ala)
c.2393A>C (p.Glu798Ala)
n.3944A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.51937654T=CA2091554283ATP7Bc.*1375A= (n.*1375A=)
c.*2469A= (n.*2469A=)
c.3104A= (p.Glu1035=)
c.3725A= (p.Glu1242=)
c.3392A= (p.Glu1131=)
c.3473A= (p.Glu1158=)
n.966A=
c.3491A= (p.Glu1164=)
n.3864A=
n.591A=
c.2660A= (p.Glu887=)
c.2435A= (p.Glu812=)
c.3530A= (p.Glu1177=)
c.1503A=
c.*826A= (n.*826A=)
n.4469A=
n.3070A=
c.3581A= (p.Glu1194=)
c.3629A= (p.Glu1210=)
c.3689A= (p.Glu1230=)
c.3239A= (p.Glu1080=)
c.1541A= (p.Glu514=)
c.1358A= (p.Glu453=)
c.3590A= (p.Glu1197=)
c.3542A= (p.Glu1181=)
c.3311A= (p.Glu1104=)
c.3212A= (p.Glu1071=)
c.2393A= (p.Glu798=)
n.3944A=
13g.51937655C>ACA388022513ATP7Bc.*1374G>T (n.*1374G>T)
c.*2468G>T (n.*2468G>T)
c.3103G>T (p.Glu1035Ter)
c.3724G>T (p.Glu1242Ter)
c.3391G>T (p.Glu1131Ter)
c.3472G>T (p.Glu1158Ter)
n.965G>T
c.3490G>T (p.Glu1164Ter)
n.3863G>T
n.590G>T
c.2659G>T (p.Glu887Ter)
c.2434G>T (p.Glu812Ter)
c.3529G>T (p.Glu1177Ter)
c.1502G>T
c.*825G>T (n.*825G>T)
n.4468G>T
n.3069G>T
c.3580G>T (p.Glu1194Ter)
c.3628G>T (p.Glu1210Ter)
c.3688G>T (p.Glu1230Ter)
c.3238G>T (p.Glu1080Ter)
c.1540G>T (p.Glu514Ter)
c.1357G>T (p.Glu453Ter)
c.3589G>T (p.Glu1197Ter)
c.3541G>T (p.Glu1181Ter)
c.3310G>T (p.Glu1104Ter)
c.3211G>T (p.Glu1071Ter)
c.2392G>T (p.Glu798Ter)
n.3943G>T
 gnomAD v4
13g.51937655C>GCA388022517ATP7Bc.*1374G>C (n.*1374G>C)
c.*2468G>C (n.*2468G>C)
c.3103G>C (p.Glu1035Gln)
c.3724G>C (p.Glu1242Gln)
c.3391G>C (p.Glu1131Gln)
c.3472G>C (p.Glu1158Gln)
n.965G>C
c.3490G>C (p.Glu1164Gln)
n.3863G>C
n.590G>C
c.2659G>C (p.Glu887Gln)
c.2434G>C (p.Glu812Gln)
c.3529G>C (p.Glu1177Gln)
c.1502G>C
c.*825G>C (n.*825G>C)
n.4468G>C
n.3069G>C
c.3580G>C (p.Glu1194Gln)
c.3628G>C (p.Glu1210Gln)
c.3688G>C (p.Glu1230Gln)
c.3238G>C (p.Glu1080Gln)
c.1540G>C (p.Glu514Gln)
c.1357G>C (p.Glu453Gln)
c.3589G>C (p.Glu1197Gln)
c.3541G>C (p.Glu1181Gln)
c.3310G>C (p.Glu1104Gln)
c.3211G>C (p.Glu1071Gln)
c.2392G>C (p.Glu798Gln)
n.3943G>C
13g.51937655C>TCA388022523ATP7Bc.*1374G>A (n.*1374G>A)
c.*2468G>A (n.*2468G>A)
c.3103G>A (p.Glu1035Lys)
c.3724G>A (p.Glu1242Lys)
c.3391G>A (p.Glu1131Lys)
c.3472G>A (p.Glu1158Lys)
n.965G>A
c.3490G>A (p.Glu1164Lys)
n.3863G>A
n.590G>A
c.2659G>A (p.Glu887Lys)
c.2434G>A (p.Glu812Lys)
c.3529G>A (p.Glu1177Lys)
c.1502G>A
c.*825G>A (n.*825G>A)
n.4468G>A
n.3069G>A
c.3580G>A (p.Glu1194Lys)
c.3628G>A (p.Glu1210Lys)
c.3688G>A (p.Glu1230Lys)
c.3238G>A (p.Glu1080Lys)
c.1540G>A (p.Glu514Lys)
c.1357G>A (p.Glu453Lys)
c.3589G>A (p.Glu1197Lys)
c.3541G>A (p.Glu1181Lys)
c.3310G>A (p.Glu1104Lys)
c.3211G>A (p.Glu1071Lys)
c.2392G>A (p.Glu798Lys)
n.3943G>A
 gnomAD v4
13g.51937656T>ACA484024754ATP7Bc.*1373A>T (n.*1373A>T)
c.*2467A>T (n.*2467A>T)
c.3102A>T (p.Ala1034=)
c.3723A>T (p.Ala1241=)
c.3390A>T (p.Ala1130=)
c.3471A>T (p.Ala1157=)
n.964A>T
c.3489A>T (p.Ala1163=)
n.3862A>T
n.589A>T
c.2658A>T (p.Ala886=)
c.2433A>T (p.Ala811=)
c.3528A>T (p.Ala1176=)
c.1501A>T
c.*824A>T (n.*824A>T)
n.4467A>T
n.3068A>T
c.3579A>T (p.Ala1193=)
c.3627A>T (p.Ala1209=)
c.3687A>T (p.Ala1229=)
c.3237A>T (p.Ala1079=)
c.1539A>T (p.Ala513=)
c.1356A>T (p.Ala452=)
c.3588A>T (p.Ala1196=)
c.3540A>T (p.Ala1180=)
c.3309A>T (p.Ala1103=)
c.3210A>T (p.Ala1070=)
c.2391A>T (p.Ala797=)
n.3942A>T
13g.51937656T>CCA484024755ATP7Bc.*1373A>G (n.*1373A>G)
c.*2467A>G (n.*2467A>G)
c.3102A>G (p.Ala1034=)
c.3723A>G (p.Ala1241=)
c.3390A>G (p.Ala1130=)
c.3471A>G (p.Ala1157=)
n.964A>G
c.3489A>G (p.Ala1163=)
n.3862A>G
n.589A>G
c.2658A>G (p.Ala886=)
c.2433A>G (p.Ala811=)
c.3528A>G (p.Ala1176=)
c.1501A>G
c.*824A>G (n.*824A>G)
n.4467A>G
n.3068A>G
c.3579A>G (p.Ala1193=)
c.3627A>G (p.Ala1209=)
c.3687A>G (p.Ala1229=)
c.3237A>G (p.Ala1079=)
c.1539A>G (p.Ala513=)
c.1356A>G (p.Ala452=)
c.3588A>G (p.Ala1196=)
c.3540A>G (p.Ala1180=)
c.3309A>G (p.Ala1103=)
c.3210A>G (p.Ala1070=)
c.2391A>G (p.Ala797=)
n.3942A>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937656T>GCA484024753ATP7Bc.*1373A>C (n.*1373A>C)
c.*2467A>C (n.*2467A>C)
c.3102A>C (p.Ala1034=)
c.3723A>C (p.Ala1241=)
c.3390A>C (p.Ala1130=)
c.3471A>C (p.Ala1157=)
n.964A>C
c.3489A>C (p.Ala1163=)
n.3862A>C
n.589A>C
c.2658A>C (p.Ala886=)
c.2433A>C (p.Ala811=)
c.3528A>C (p.Ala1176=)
c.1501A>C
c.*824A>C (n.*824A>C)
n.4467A>C
n.3068A>C
c.3579A>C (p.Ala1193=)
c.3627A>C (p.Ala1209=)
c.3687A>C (p.Ala1229=)
c.3237A>C (p.Ala1079=)
c.1539A>C (p.Ala513=)
c.1356A>C (p.Ala452=)
c.3588A>C (p.Ala1196=)
c.3540A>C (p.Ala1180=)
c.3309A>C (p.Ala1103=)
c.3210A>C (p.Ala1070=)
c.2391A>C (p.Ala797=)
n.3942A>C
13g.51937656T=CA2091554284ATP7Bc.*1373A= (n.*1373A=)
c.*2467A= (n.*2467A=)
c.3102A= (p.Ala1034=)
c.3723A= (p.Ala1241=)
c.3390A= (p.Ala1130=)
c.3471A= (p.Ala1157=)
n.964A=
c.3489A= (p.Ala1163=)
n.3862A=
n.589A=
c.2658A= (p.Ala886=)
c.2433A= (p.Ala811=)
c.3528A= (p.Ala1176=)
c.1501A=
c.*824A= (n.*824A=)
n.4467A=
n.3068A=
c.3579A= (p.Ala1193=)
c.3627A= (p.Ala1209=)
c.3687A= (p.Ala1229=)
c.3237A= (p.Ala1079=)
c.1539A= (p.Ala513=)
c.1356A= (p.Ala452=)
c.3588A= (p.Ala1196=)
c.3540A= (p.Ala1180=)
c.3309A= (p.Ala1103=)
c.3210A= (p.Ala1070=)
c.2391A= (p.Ala797=)
n.3942A=
13g.51937657delCA2623119377ATP7Bc.*1372del (n.*1372del)
c.*2466del (n.*2466del)
c.3101del (p.Ala1034GlufsTer?)
c.3722del (p.Ala1241GlufsTer?)
c.3389del (p.Ala1130GlufsTer?)
c.3470del (p.Ala1157GlufsTer?)
n.963del
c.3488del (p.Ala1163GlufsTer?)
n.3861del
n.588del
c.2657del (p.Ala886GlufsTer?)
c.2432del (p.Ala811GlufsTer?)
c.3527del (p.Ala1176GlufsTer?)
c.1500del
c.*823del (n.*823del)
n.4466del
n.3067del
c.3578del (p.Ala1193GlufsTer?)
c.3626del (p.Ala1209GlufsTer?)
c.3686del (p.Ala1229GlufsTer?)
c.3236del (p.Ala1079GlufsTer?)
c.1538del (p.Ala513GlufsTer?)
c.1355del (p.Ala452GlufsTer?)
c.3587del (p.Ala1196GlufsTer?)
c.3539del (p.Ala1180GlufsTer?)
c.3308del (p.Ala1103GlufsTer?)
c.3209del (p.Ala1070GlufsTer?)
c.2390del (p.Ala797GlufsTer?)
n.3941del
 gnomAD v4
13g.51937657G>ACA388022524ATP7Bc.*1372C>T (n.*1372C>T)
c.*2466C>T (n.*2466C>T)
c.3101C>T (p.Ala1034Val)
c.3722C>T (p.Ala1241Val)
c.3389C>T (p.Ala1130Val)
c.3470C>T (p.Ala1157Val)
n.963C>T
c.3488C>T (p.Ala1163Val)
n.3861C>T
n.588C>T
c.2657C>T (p.Ala886Val)
c.2432C>T (p.Ala811Val)
c.3527C>T (p.Ala1176Val)
c.1500C>T
c.*823C>T (n.*823C>T)
n.4466C>T
n.3067C>T
c.3578C>T (p.Ala1193Val)
c.3626C>T (p.Ala1209Val)
c.3686C>T (p.Ala1229Val)
c.3236C>T (p.Ala1079Val)
c.1538C>T (p.Ala513Val)
c.1355C>T (p.Ala452Val)
c.3587C>T (p.Ala1196Val)
c.3539C>T (p.Ala1180Val)
c.3308C>T (p.Ala1103Val)
c.3209C>T (p.Ala1070Val)
c.2390C>T (p.Ala797Val)
n.3941C>T
 ClinVar dbSNP gnomAD v4
13g.51937657G>CCA388022526ATP7Bc.*1372C>G (n.*1372C>G)
c.*2466C>G (n.*2466C>G)
c.3101C>G (p.Ala1034Gly)
c.3722C>G (p.Ala1241Gly)
c.3389C>G (p.Ala1130Gly)
c.3470C>G (p.Ala1157Gly)
n.963C>G
c.3488C>G (p.Ala1163Gly)
n.3861C>G
n.588C>G
c.2657C>G (p.Ala886Gly)
c.2432C>G (p.Ala811Gly)
c.3527C>G (p.Ala1176Gly)
c.1500C>G
c.*823C>G (n.*823C>G)
n.4466C>G
n.3067C>G
c.3578C>G (p.Ala1193Gly)
c.3626C>G (p.Ala1209Gly)
c.3686C>G (p.Ala1229Gly)
c.3236C>G (p.Ala1079Gly)
c.1538C>G (p.Ala513Gly)
c.1355C>G (p.Ala452Gly)
c.3587C>G (p.Ala1196Gly)
c.3539C>G (p.Ala1180Gly)
c.3308C>G (p.Ala1103Gly)
c.3209C>G (p.Ala1070Gly)
c.2390C>G (p.Ala797Gly)
n.3941C>G
13g.51937657G=CA2091554288ATP7Bc.*1372C= (n.*1372C=)
c.*2466C= (n.*2466C=)
c.3101C= (p.Ala1034=)
c.3722C= (p.Ala1241=)
c.3389C= (p.Ala1130=)
c.3470C= (p.Ala1157=)
n.963C=
c.3488C= (p.Ala1163=)
n.3861C=
n.588C=
c.2657C= (p.Ala886=)
c.2432C= (p.Ala811=)
c.3527C= (p.Ala1176=)
c.1500C=
c.*823C= (n.*823C=)
n.4466C=
n.3067C=
c.3578C= (p.Ala1193=)
c.3626C= (p.Ala1209=)
c.3686C= (p.Ala1229=)
c.3236C= (p.Ala1079=)
c.1538C= (p.Ala513=)
c.1355C= (p.Ala452=)
c.3587C= (p.Ala1196=)
c.3539C= (p.Ala1180=)
c.3308C= (p.Ala1103=)
c.3209C= (p.Ala1070=)
c.2390C= (p.Ala797=)
n.3941C=
13g.51937657G>TCA388022530ATP7Bc.*1372C>A (n.*1372C>A)
c.*2466C>A (n.*2466C>A)
c.3101C>A (p.Ala1034Glu)
c.3722C>A (p.Ala1241Glu)
c.3389C>A (p.Ala1130Glu)
c.3470C>A (p.Ala1157Glu)
n.963C>A
c.3488C>A (p.Ala1163Glu)
n.3861C>A
n.588C>A
c.2657C>A (p.Ala886Glu)
c.2432C>A (p.Ala811Glu)
c.3527C>A (p.Ala1176Glu)
c.1500C>A
c.*823C>A (n.*823C>A)
n.4466C>A
n.3067C>A
c.3578C>A (p.Ala1193Glu)
c.3626C>A (p.Ala1209Glu)
c.3686C>A (p.Ala1229Glu)
c.3236C>A (p.Ala1079Glu)
c.1538C>A (p.Ala513Glu)
c.1355C>A (p.Ala452Glu)
c.3587C>A (p.Ala1196Glu)
c.3539C>A (p.Ala1180Glu)
c.3308C>A (p.Ala1103Glu)
c.3209C>A (p.Ala1070Glu)
c.2390C>A (p.Ala797Glu)
n.3941C>A
13g.51937658C>ACA388022544ATP7Bc.*1371G>T (n.*1371G>T)
c.*2465G>T (n.*2465G>T)
c.3100G>T (p.Ala1034Ser)
c.3721G>T (p.Ala1241Ser)
c.3388G>T (p.Ala1130Ser)
c.3469G>T (p.Ala1157Ser)
n.962G>T
c.3487G>T (p.Ala1163Ser)
n.3860G>T
n.587G>T
c.2656G>T (p.Ala886Ser)
c.2431G>T (p.Ala811Ser)
c.3526G>T (p.Ala1176Ser)
c.1499G>T
c.*822G>T (n.*822G>T)
n.4465G>T
n.3066G>T
c.3577G>T (p.Ala1193Ser)
c.3625G>T (p.Ala1209Ser)
c.3685G>T (p.Ala1229Ser)
c.3235G>T (p.Ala1079Ser)
c.1537G>T (p.Ala513Ser)
c.1354G>T (p.Ala452Ser)
c.3586G>T (p.Ala1196Ser)
c.3538G>T (p.Ala1180Ser)
c.3307G>T (p.Ala1103Ser)
c.3208G>T (p.Ala1070Ser)
c.2389G>T (p.Ala797Ser)
n.3940G>T
13g.51937658C>GCA388022549ATP7Bc.*1371G>C (n.*1371G>C)
c.*2465G>C (n.*2465G>C)
c.3100G>C (p.Ala1034Pro)
c.3721G>C (p.Ala1241Pro)
c.3388G>C (p.Ala1130Pro)
c.3469G>C (p.Ala1157Pro)
n.962G>C
c.3487G>C (p.Ala1163Pro)
n.3860G>C
n.587G>C
c.2656G>C (p.Ala886Pro)
c.2431G>C (p.Ala811Pro)
c.3526G>C (p.Ala1176Pro)
c.1499G>C
c.*822G>C (n.*822G>C)
n.4465G>C
n.3066G>C
c.3577G>C (p.Ala1193Pro)
c.3625G>C (p.Ala1209Pro)
c.3685G>C (p.Ala1229Pro)
c.3235G>C (p.Ala1079Pro)
c.1537G>C (p.Ala513Pro)
c.1354G>C (p.Ala452Pro)
c.3586G>C (p.Ala1196Pro)
c.3538G>C (p.Ala1180Pro)
c.3307G>C (p.Ala1103Pro)
c.3208G>C (p.Ala1070Pro)
c.2389G>C (p.Ala797Pro)
n.3940G>C
13g.51937658C>TCA388022539ATP7Bc.*1371G>A (n.*1371G>A)
c.*2465G>A (n.*2465G>A)
c.3100G>A (p.Ala1034Thr)
c.3721G>A (p.Ala1241Thr)
c.3388G>A (p.Ala1130Thr)
c.3469G>A (p.Ala1157Thr)
n.962G>A
c.3487G>A (p.Ala1163Thr)
n.3860G>A
n.587G>A
c.2656G>A (p.Ala886Thr)
c.2431G>A (p.Ala811Thr)
c.3526G>A (p.Ala1176Thr)
c.1499G>A
c.*822G>A (n.*822G>A)
n.4465G>A
n.3066G>A
c.3577G>A (p.Ala1193Thr)
c.3625G>A (p.Ala1209Thr)
c.3685G>A (p.Ala1229Thr)
c.3235G>A (p.Ala1079Thr)
c.1537G>A (p.Ala513Thr)
c.1354G>A (p.Ala452Thr)
c.3586G>A (p.Ala1196Thr)
c.3538G>A (p.Ala1180Thr)
c.3307G>A (p.Ala1103Thr)
c.3208G>A (p.Ala1070Thr)
c.2389G>A (p.Ala797Thr)
n.3940G>A
 gnomAD v4
13g.51937659A=CA2091554294ATP7Bc.*1370T= (n.*1370T=)
c.*2464T= (n.*2464T=)
c.3099T= (p.Phe1033=)
c.3720T= (p.Phe1240=)
c.3387T= (p.Phe1129=)
c.3468T= (p.Phe1156=)
n.961T=
c.3486T= (p.Phe1162=)
n.3859T=
n.586T=
c.2655T= (p.Phe885=)
c.2430T= (p.Phe810=)
c.3525T= (p.Phe1175=)
c.1498T=
c.*821T= (n.*821T=)
n.4464T=
n.3065T=
c.3576T= (p.Phe1192=)
c.3624T= (p.Phe1208=)
c.3684T= (p.Phe1228=)
c.3234T= (p.Phe1078=)
c.1536T= (p.Phe512=)
c.1353T= (p.Phe451=)
c.3585T= (p.Phe1195=)
c.3537T= (p.Phe1179=)
c.3306T= (p.Phe1102=)
c.3207T= (p.Phe1069=)
c.2388T= (p.Phe796=)
n.3939T=
13g.51937659A>CCA388022552ATP7Bc.*1370T>G (n.*1370T>G)
c.*2464T>G (n.*2464T>G)
c.3099T>G (p.Phe1033Leu)
c.3720T>G (p.Phe1240Leu)
c.3387T>G (p.Phe1129Leu)
c.3468T>G (p.Phe1156Leu)
n.961T>G
c.3486T>G (p.Phe1162Leu)
n.3859T>G
n.586T>G
c.2655T>G (p.Phe885Leu)
c.2430T>G (p.Phe810Leu)
c.3525T>G (p.Phe1175Leu)
c.1498T>G
c.*821T>G (n.*821T>G)
n.4464T>G
n.3065T>G
c.3576T>G (p.Phe1192Leu)
c.3624T>G (p.Phe1208Leu)
c.3684T>G (p.Phe1228Leu)
c.3234T>G (p.Phe1078Leu)
c.1536T>G (p.Phe512Leu)
c.1353T>G (p.Phe451Leu)
c.3585T>G (p.Phe1195Leu)
c.3537T>G (p.Phe1179Leu)
c.3306T>G (p.Phe1102Leu)
c.3207T>G (p.Phe1069Leu)
c.2388T>G (p.Phe796Leu)
n.3939T>G
13g.51937659A>GCA250073822ATP7Bc.*1370T>C (n.*1370T>C)
c.*2464T>C (n.*2464T>C)
c.3099T>C (p.Phe1033=)
c.3720T>C (p.Phe1240=)
c.3387T>C (p.Phe1129=)
c.3468T>C (p.Phe1156=)
n.961T>C
c.3486T>C (p.Phe1162=)
n.3859T>C
n.586T>C
c.2655T>C (p.Phe885=)
c.2430T>C (p.Phe810=)
c.3525T>C (p.Phe1175=)
c.1498T>C
c.*821T>C (n.*821T>C)
n.4464T>C
n.3065T>C
c.3576T>C (p.Phe1192=)
c.3624T>C (p.Phe1208=)
c.3684T>C (p.Phe1228=)
c.3234T>C (p.Phe1078=)
c.1536T>C (p.Phe512=)
c.1353T>C (p.Phe451=)
c.3585T>C (p.Phe1195=)
c.3537T>C (p.Phe1179=)
c.3306T>C (p.Phe1102=)
c.3207T>C (p.Phe1069=)
c.2388T>C (p.Phe796=)
n.3939T>C
 ClinVar dbSNP gnomAD v4
13g.51937659A>TCA388022560ATP7Bc.*1370T>A (n.*1370T>A)
c.*2464T>A (n.*2464T>A)
c.3099T>A (p.Phe1033Leu)
c.3720T>A (p.Phe1240Leu)
c.3387T>A (p.Phe1129Leu)
c.3468T>A (p.Phe1156Leu)
n.961T>A
c.3486T>A (p.Phe1162Leu)
n.3859T>A
n.586T>A
c.2655T>A (p.Phe885Leu)
c.2430T>A (p.Phe810Leu)
c.3525T>A (p.Phe1175Leu)
c.1498T>A
c.*821T>A (n.*821T>A)
n.4464T>A
n.3065T>A
c.3576T>A (p.Phe1192Leu)
c.3624T>A (p.Phe1208Leu)
c.3684T>A (p.Phe1228Leu)
c.3234T>A (p.Phe1078Leu)
c.1536T>A (p.Phe512Leu)
c.1353T>A (p.Phe451Leu)
c.3585T>A (p.Phe1195Leu)
c.3537T>A (p.Phe1179Leu)
c.3306T>A (p.Phe1102Leu)
c.3207T>A (p.Phe1069Leu)
c.2388T>A (p.Phe796Leu)
n.3939T>A
13g.51937660A>CCA388022565ATP7Bc.*1369T>G (n.*1369T>G)
c.*2463T>G (n.*2463T>G)
c.3098T>G (p.Phe1033Cys)
c.3719T>G (p.Phe1240Cys)
c.3386T>G (p.Phe1129Cys)
c.3467T>G (p.Phe1156Cys)
n.960T>G
c.3485T>G (p.Phe1162Cys)
n.3858T>G
n.585T>G
c.2654T>G (p.Phe885Cys)
c.2429T>G (p.Phe810Cys)
c.3524T>G (p.Phe1175Cys)
c.1497T>G
c.*820T>G (n.*820T>G)
n.4463T>G
n.3064T>G
c.3575T>G (p.Phe1192Cys)
c.3623T>G (p.Phe1208Cys)
c.3683T>G (p.Phe1228Cys)
c.3233T>G (p.Phe1078Cys)
c.1535T>G (p.Phe512Cys)
c.1352T>G (p.Phe451Cys)
c.3584T>G (p.Phe1195Cys)
c.3536T>G (p.Phe1179Cys)
c.3305T>G (p.Phe1102Cys)
c.3206T>G (p.Phe1069Cys)
c.2387T>G (p.Phe796Cys)
n.3938T>G
13g.51937660A>GCA388022568ATP7Bc.*1369T>C (n.*1369T>C)
c.*2463T>C (n.*2463T>C)
c.3098T>C (p.Phe1033Ser)
c.3719T>C (p.Phe1240Ser)
c.3386T>C (p.Phe1129Ser)
c.3467T>C (p.Phe1156Ser)
n.960T>C
c.3485T>C (p.Phe1162Ser)
n.3858T>C
n.585T>C
c.2654T>C (p.Phe885Ser)
c.2429T>C (p.Phe810Ser)
c.3524T>C (p.Phe1175Ser)
c.1497T>C
c.*820T>C (n.*820T>C)
n.4463T>C
n.3064T>C
c.3575T>C (p.Phe1192Ser)
c.3623T>C (p.Phe1208Ser)
c.3683T>C (p.Phe1228Ser)
c.3233T>C (p.Phe1078Ser)
c.1535T>C (p.Phe512Ser)
c.1352T>C (p.Phe451Ser)
c.3584T>C (p.Phe1195Ser)
c.3536T>C (p.Phe1179Ser)
c.3305T>C (p.Phe1102Ser)
c.3206T>C (p.Phe1069Ser)
c.2387T>C (p.Phe796Ser)
n.3938T>C
13g.51937660A>TCA388022570ATP7Bc.*1369T>A (n.*1369T>A)
c.*2463T>A (n.*2463T>A)
c.3098T>A (p.Phe1033Tyr)
c.3719T>A (p.Phe1240Tyr)
c.3386T>A (p.Phe1129Tyr)
c.3467T>A (p.Phe1156Tyr)
n.960T>A
c.3485T>A (p.Phe1162Tyr)
n.3858T>A
n.585T>A
c.2654T>A (p.Phe885Tyr)
c.2429T>A (p.Phe810Tyr)
c.3524T>A (p.Phe1175Tyr)
c.1497T>A
c.*820T>A (n.*820T>A)
n.4463T>A
n.3064T>A
c.3575T>A (p.Phe1192Tyr)
c.3623T>A (p.Phe1208Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3233T>A (p.Phe1078Tyr)
c.1535T>A (p.Phe512Tyr)
c.1352T>A (p.Phe451Tyr)
c.3584T>A (p.Phe1195Tyr)
c.3536T>A (p.Phe1179Tyr)
c.3305T>A (p.Phe1102Tyr)
c.3206T>A (p.Phe1069Tyr)
c.2387T>A (p.Phe796Tyr)
n.3938T>A
13g.51937661A>CCA388022572ATP7Bc.*1368T>G (n.*1368T>G)
c.*2462T>G (n.*2462T>G)
c.3097T>G (p.Phe1033Val)
c.3718T>G (p.Phe1240Val)
c.3385T>G (p.Phe1129Val)
c.3466T>G (p.Phe1156Val)
n.959T>G
c.3484T>G (p.Phe1162Val)
n.3857T>G
n.584T>G
c.2653T>G (p.Phe885Val)
c.2428T>G (p.Phe810Val)
c.3523T>G (p.Phe1175Val)
c.1496T>G
c.*819T>G (n.*819T>G)
n.4462T>G
n.3063T>G
c.3574T>G (p.Phe1192Val)
c.3622T>G (p.Phe1208Val)
c.3682T>G (p.Phe1228Val)
c.3232T>G (p.Phe1078Val)
c.1534T>G (p.Phe512Val)
c.1351T>G (p.Phe451Val)
c.3583T>G (p.Phe1195Val)
c.3535T>G (p.Phe1179Val)
c.3304T>G (p.Phe1102Val)
c.3205T>G (p.Phe1069Val)
c.2386T>G (p.Phe796Val)
n.3937T>G
13g.51937661A>GCA388022574ATP7Bc.*1368T>C (n.*1368T>C)
c.*2462T>C (n.*2462T>C)
c.3097T>C (p.Phe1033Leu)
c.3718T>C (p.Phe1240Leu)
c.3385T>C (p.Phe1129Leu)
c.3466T>C (p.Phe1156Leu)
n.959T>C
c.3484T>C (p.Phe1162Leu)
n.3857T>C
n.584T>C
c.2653T>C (p.Phe885Leu)
c.2428T>C (p.Phe810Leu)
c.3523T>C (p.Phe1175Leu)
c.1496T>C
c.*819T>C (n.*819T>C)
n.4462T>C
n.3063T>C
c.3574T>C (p.Phe1192Leu)
c.3622T>C (p.Phe1208Leu)
c.3682T>C (p.Phe1228Leu)
c.3232T>C (p.Phe1078Leu)
c.1534T>C (p.Phe512Leu)
c.1351T>C (p.Phe451Leu)
c.3583T>C (p.Phe1195Leu)
c.3535T>C (p.Phe1179Leu)
c.3304T>C (p.Phe1102Leu)
c.3205T>C (p.Phe1069Leu)
c.2386T>C (p.Phe796Leu)
n.3937T>C
13g.51937661A>TCA388022575ATP7Bc.*1368T>A (n.*1368T>A)
c.*2462T>A (n.*2462T>A)
c.3097T>A (p.Phe1033Ile)
c.3718T>A (p.Phe1240Ile)
c.3385T>A (p.Phe1129Ile)
c.3466T>A (p.Phe1156Ile)
n.959T>A
c.3484T>A (p.Phe1162Ile)
n.3857T>A
n.584T>A
c.2653T>A (p.Phe885Ile)
c.2428T>A (p.Phe810Ile)
c.3523T>A (p.Phe1175Ile)
c.1496T>A
c.*819T>A (n.*819T>A)
n.4462T>A
n.3063T>A
c.3574T>A (p.Phe1192Ile)
c.3622T>A (p.Phe1208Ile)
c.3682T>A (p.Phe1228Ile)
c.3232T>A (p.Phe1078Ile)
c.1534T>A (p.Phe512Ile)
c.1351T>A (p.Phe451Ile)
c.3583T>A (p.Phe1195Ile)
c.3535T>A (p.Phe1179Ile)
c.3304T>A (p.Phe1102Ile)
c.3205T>A (p.Phe1069Ile)
c.2386T>A (p.Phe796Ile)
n.3937T>A
13g.51937662G>ACA484024768ATP7Bc.*1367C>T (n.*1367C>T)
c.*2461C>T (n.*2461C>T)
c.3096C>T (p.Val1032=)
c.3717C>T (p.Val1239=)
c.3384C>T (p.Val1128=)
c.3465C>T (p.Val1155=)
n.958C>T
c.3483C>T (p.Val1161=)
n.3856C>T
n.583C>T
c.2652C>T (p.Val884=)
c.2427C>T (p.Val809=)
c.3522C>T (p.Val1174=)
c.1495C>T
c.*818C>T (n.*818C>T)
n.4461C>T
n.3062C>T
c.3573C>T (p.Val1191=)
c.3621C>T (p.Val1207=)
c.3681C>T (p.Val1227=)
c.3231C>T (p.Val1077=)
c.1533C>T (p.Val511=)
c.1350C>T (p.Val450=)
c.3582C>T (p.Val1194=)
c.3534C>T (p.Val1178=)
c.3303C>T (p.Val1101=)
c.3204C>T (p.Val1068=)
c.2385C>T (p.Val795=)
n.3936C>T
 dbSNP gnomAD v2 gnomAD v4
13g.51937662G>CCA484024770ATP7Bc.*1367C>G (n.*1367C>G)
c.*2461C>G (n.*2461C>G)
c.3096C>G (p.Val1032=)
c.3717C>G (p.Val1239=)
c.3384C>G (p.Val1128=)
c.3465C>G (p.Val1155=)
n.958C>G
c.3483C>G (p.Val1161=)
n.3856C>G
n.583C>G
c.2652C>G (p.Val884=)
c.2427C>G (p.Val809=)
c.3522C>G (p.Val1174=)
c.1495C>G
c.*818C>G (n.*818C>G)
n.4461C>G
n.3062C>G
c.3573C>G (p.Val1191=)
c.3621C>G (p.Val1207=)
c.3681C>G (p.Val1227=)
c.3231C>G (p.Val1077=)
c.1533C>G (p.Val511=)
c.1350C>G (p.Val450=)
c.3582C>G (p.Val1194=)
c.3534C>G (p.Val1178=)
c.3303C>G (p.Val1101=)
c.3204C>G (p.Val1068=)
c.2385C>G (p.Val795=)
n.3936C>G
13g.51937662G=CA2091554298ATP7Bc.*1367C= (n.*1367C=)
c.*2461C= (n.*2461C=)
c.3096C= (p.Val1032=)
c.3717C= (p.Val1239=)
c.3384C= (p.Val1128=)
c.3465C= (p.Val1155=)
n.958C=
c.3483C= (p.Val1161=)
n.3856C=
n.583C=
c.2652C= (p.Val884=)
c.2427C= (p.Val809=)
c.3522C= (p.Val1174=)
c.1495C=
c.*818C= (n.*818C=)
n.4461C=
n.3062C=
c.3573C= (p.Val1191=)
c.3621C= (p.Val1207=)
c.3681C= (p.Val1227=)
c.3231C= (p.Val1077=)
c.1533C= (p.Val511=)
c.1350C= (p.Val450=)
c.3582C= (p.Val1194=)
c.3534C= (p.Val1178=)
c.3303C= (p.Val1101=)
c.3204C= (p.Val1068=)
c.2385C= (p.Val795=)
n.3936C=
13g.51937662G>TCA484024769ATP7Bc.*1367C>A (n.*1367C>A)
c.*2461C>A (n.*2461C>A)
c.3096C>A (p.Val1032=)
c.3717C>A (p.Val1239=)
c.3384C>A (p.Val1128=)
c.3465C>A (p.Val1155=)
n.958C>A
c.3483C>A (p.Val1161=)
n.3856C>A
n.583C>A
c.2652C>A (p.Val884=)
c.2427C>A (p.Val809=)
c.3522C>A (p.Val1174=)
c.1495C>A
c.*818C>A (n.*818C>A)
n.4461C>A
n.3062C>A
c.3573C>A (p.Val1191=)
c.3621C>A (p.Val1207=)
c.3681C>A (p.Val1227=)
c.3231C>A (p.Val1077=)
c.1533C>A (p.Val511=)
c.1350C>A (p.Val450=)
c.3582C>A (p.Val1194=)
c.3534C>A (p.Val1178=)
c.3303C>A (p.Val1101=)
c.3204C>A (p.Val1068=)
c.2385C>A (p.Val795=)
n.3936C>A
 COSMIC
13g.51937663A=CA2091554303ATP7Bc.*1366T= (n.*1366T=)
c.*2460T= (n.*2460T=)
c.3095T= (p.Val1032=)
c.3716T= (p.Val1239=)
c.3383T= (p.Val1128=)
c.3464T= (p.Val1155=)
n.957T=
c.3482T= (p.Val1161=)
n.3855T=
n.582T=
c.2651T= (p.Val884=)
c.2426T= (p.Val809=)
c.3521T= (p.Val1174=)
c.1494T=
c.*817T= (n.*817T=)
n.4460T=
n.3061T=
c.3572T= (p.Val1191=)
c.3620T= (p.Val1207=)
c.3680T= (p.Val1227=)
c.3230T= (p.Val1077=)
c.1532T= (p.Val511=)
c.1349T= (p.Val450=)
c.3581T= (p.Val1194=)
c.3533T= (p.Val1178=)
c.3302T= (p.Val1101=)
c.3203T= (p.Val1068=)
c.2384T= (p.Val795=)
n.3935T=
13g.51937663A>CCA6988580ATP7Bc.*1366T>G (n.*1366T>G)
c.*2460T>G (n.*2460T>G)
c.3095T>G (p.Val1032Gly)
c.3716T>G (p.Val1239Gly)
c.3383T>G (p.Val1128Gly)
c.3464T>G (p.Val1155Gly)
n.957T>G
c.3482T>G (p.Val1161Gly)
n.3855T>G
n.582T>G
c.2651T>G (p.Val884Gly)
c.2426T>G (p.Val809Gly)
c.3521T>G (p.Val1174Gly)
c.1494T>G
c.*817T>G (n.*817T>G)
n.4460T>G
n.3061T>G
c.3572T>G (p.Val1191Gly)
c.3620T>G (p.Val1207Gly)
c.3680T>G (p.Val1227Gly)
c.3230T>G (p.Val1077Gly)
c.1532T>G (p.Val511Gly)
c.1349T>G (p.Val450Gly)
c.3581T>G (p.Val1194Gly)
c.3533T>G (p.Val1178Gly)
c.3302T>G (p.Val1101Gly)
c.3203T>G (p.Val1068Gly)
c.2384T>G (p.Val795Gly)
n.3935T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937663A>GCA388022578ATP7Bc.*1366T>C (n.*1366T>C)
c.*2460T>C (n.*2460T>C)
c.3095T>C (p.Val1032Ala)
c.3716T>C (p.Val1239Ala)
c.3383T>C (p.Val1128Ala)
c.3464T>C (p.Val1155Ala)
n.957T>C
c.3482T>C (p.Val1161Ala)
n.3855T>C
n.582T>C
c.2651T>C (p.Val884Ala)
c.2426T>C (p.Val809Ala)
c.3521T>C (p.Val1174Ala)
c.1494T>C
c.*817T>C (n.*817T>C)
n.4460T>C
n.3061T>C
c.3572T>C (p.Val1191Ala)
c.3620T>C (p.Val1207Ala)
c.3680T>C (p.Val1227Ala)
c.3230T>C (p.Val1077Ala)
c.1532T>C (p.Val511Ala)
c.1349T>C (p.Val450Ala)
c.3581T>C (p.Val1194Ala)
c.3533T>C (p.Val1178Ala)
c.3302T>C (p.Val1101Ala)
c.3203T>C (p.Val1068Ala)
c.2384T>C (p.Val795Ala)
n.3935T>C
13g.51937663A>TCA388022581ATP7Bc.*1366T>A (n.*1366T>A)
c.*2460T>A (n.*2460T>A)
c.3095T>A (p.Val1032Asp)
c.3716T>A (p.Val1239Asp)
c.3383T>A (p.Val1128Asp)
c.3464T>A (p.Val1155Asp)
n.957T>A
c.3482T>A (p.Val1161Asp)
n.3855T>A
n.582T>A
c.2651T>A (p.Val884Asp)
c.2426T>A (p.Val809Asp)
c.3521T>A (p.Val1174Asp)
c.1494T>A
c.*817T>A (n.*817T>A)
n.4460T>A
n.3061T>A
c.3572T>A (p.Val1191Asp)
c.3620T>A (p.Val1207Asp)
c.3680T>A (p.Val1227Asp)
c.3230T>A (p.Val1077Asp)
c.1532T>A (p.Val511Asp)
c.1349T>A (p.Val450Asp)
c.3581T>A (p.Val1194Asp)
c.3533T>A (p.Val1178Asp)
c.3302T>A (p.Val1101Asp)
c.3203T>A (p.Val1068Asp)
c.2384T>A (p.Val795Asp)
n.3935T>A
13g.51937663_51937664delinsACCA2091554305ATP7Bc.*1365_*1366delinsGT (n.*1365_*1366delinsGT)
c.*2459_*2460delinsGT (n.*2459_*2460delinsGT)
c.3094_3095delinsGT (p.Val1032=)
c.3715_3716delinsGT (p.Val1239=)
c.3382_3383delinsGT (p.Val1128=)
c.3463_3464delinsGT (p.Val1155=)
n.956_957delinsGT
c.3481_3482delinsGT (p.Val1161=)
n.3854_3855delinsGT
n.581_582delinsGT
c.2650_2651delinsGT (p.Val884=)
c.2425_2426delinsGT (p.Val809=)
c.3520_3521delinsGT (p.Val1174=)
c.1493_1494delinsGT
c.*816_*817delinsGT (n.*816_*817delinsGT)
n.4459_4460delinsGT
n.3060_3061delinsGT
c.3571_3572delinsGT (p.Val1191=)
c.3619_3620delinsGT (p.Val1207=)
c.3679_3680delinsGT (p.Val1227=)
c.3229_3230delinsGT (p.Val1077=)
c.1531_1532delinsGT (p.Val511=)
c.1348_1349delinsGT (p.Val450=)
c.3580_3581delinsGT (p.Val1194=)
c.3532_3533delinsGT (p.Val1178=)
c.3301_3302delinsGT (p.Val1101=)
c.3202_3203delinsGT (p.Val1068=)
c.2383_2384delinsGT (p.Val795=)
n.3934_3935delinsGT
13g.51937664delCA2091554308ATP7Bc.*1365del (n.*1365del)
c.*2459del (n.*2459del)
c.3094del (p.Val1032SerfsTer?)
c.3715del (p.Val1239SerfsTer?)
c.3382del (p.Val1128SerfsTer?)
c.3463del (p.Val1155SerfsTer?)
n.956del
c.3481del (p.Val1161SerfsTer?)
n.3854del
n.581del
c.2650del (p.Val884SerfsTer?)
c.2425del (p.Val809SerfsTer?)
c.3520del (p.Val1174SerfsTer?)
c.1493del
c.*816del (n.*816del)
n.4459del
n.3060del
c.3571del (p.Val1191SerfsTer?)
c.3619del (p.Val1207SerfsTer?)
c.3679del (p.Val1227SerfsTer?)
c.3229del (p.Val1077SerfsTer?)
c.1531del (p.Val511SerfsTer?)
c.1348del (p.Val450SerfsTer?)
c.3580del (p.Val1194SerfsTer?)
c.3532del (p.Val1178SerfsTer?)
c.3301del (p.Val1101SerfsTer?)
c.3202del (p.Val1068SerfsTer?)
c.2383del (p.Val795SerfsTer?)
n.3934del
 dbSNP
13g.51937664C>ACA6988581ATP7Bc.*1365G>T (n.*1365G>T)
c.*2459G>T (n.*2459G>T)
c.3094G>T (p.Val1032Phe)
c.3715G>T (p.Val1239Phe)
c.3382G>T (p.Val1128Phe)
c.3463G>T (p.Val1155Phe)
n.956G>T
c.3481G>T (p.Val1161Phe)
n.3854G>T
n.581G>T
c.2650G>T (p.Val884Phe)
c.2425G>T (p.Val809Phe)
c.3520G>T (p.Val1174Phe)
c.1493G>T
c.*816G>T (n.*816G>T)
n.4459G>T
n.3060G>T
c.3571G>T (p.Val1191Phe)
c.3619G>T (p.Val1207Phe)
c.3679G>T (p.Val1227Phe)
c.3229G>T (p.Val1077Phe)
c.1531G>T (p.Val511Phe)
c.1348G>T (p.Val450Phe)
c.3580G>T (p.Val1194Phe)
c.3532G>T (p.Val1178Phe)
c.3301G>T (p.Val1101Phe)
c.3202G>T (p.Val1068Phe)
c.2383G>T (p.Val795Phe)
n.3934G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937664C=CA2091554310ATP7Bc.*1365G= (n.*1365G=)
c.*2459G= (n.*2459G=)
c.3094G= (p.Val1032=)
c.3715G= (p.Val1239=)
c.3382G= (p.Val1128=)
c.3463G= (p.Val1155=)
n.956G=
c.3481G= (p.Val1161=)
n.3854G=
n.581G=
c.2650G= (p.Val884=)
c.2425G= (p.Val809=)
c.3520G= (p.Val1174=)
c.1493G=
c.*816G= (n.*816G=)
n.4459G=
n.3060G=
c.3571G= (p.Val1191=)
c.3619G= (p.Val1207=)
c.3679G= (p.Val1227=)
c.3229G= (p.Val1077=)
c.1531G= (p.Val511=)
c.1348G= (p.Val450=)
c.3580G= (p.Val1194=)
c.3532G= (p.Val1178=)
c.3301G= (p.Val1101=)
c.3202G= (p.Val1068=)
c.2383G= (p.Val795=)
n.3934G=
13g.51937664C>GCA388022587ATP7Bc.*1365G>C (n.*1365G>C)
c.*2459G>C (n.*2459G>C)
c.3094G>C (p.Val1032Leu)
c.3715G>C (p.Val1239Leu)
c.3382G>C (p.Val1128Leu)
c.3463G>C (p.Val1155Leu)
n.956G>C
c.3481G>C (p.Val1161Leu)
n.3854G>C
n.581G>C
c.2650G>C (p.Val884Leu)
c.2425G>C (p.Val809Leu)
c.3520G>C (p.Val1174Leu)
c.1493G>C
c.*816G>C (n.*816G>C)
n.4459G>C
n.3060G>C
c.3571G>C (p.Val1191Leu)
c.3619G>C (p.Val1207Leu)
c.3679G>C (p.Val1227Leu)
c.3229G>C (p.Val1077Leu)
c.1531G>C (p.Val511Leu)
c.1348G>C (p.Val450Leu)
c.3580G>C (p.Val1194Leu)
c.3532G>C (p.Val1178Leu)
c.3301G>C (p.Val1101Leu)
c.3202G>C (p.Val1068Leu)
c.2383G>C (p.Val795Leu)
n.3934G>C
13g.51937664C>TCA388022590ATP7Bc.*1365G>A (n.*1365G>A)
c.*2459G>A (n.*2459G>A)
c.3094G>A (p.Val1032Ile)
c.3715G>A (p.Val1239Ile)
c.3382G>A (p.Val1128Ile)
c.3463G>A (p.Val1155Ile)
n.956G>A
c.3481G>A (p.Val1161Ile)
n.3854G>A
n.581G>A
c.2650G>A (p.Val884Ile)
c.2425G>A (p.Val809Ile)
c.3520G>A (p.Val1174Ile)
c.1493G>A
c.*816G>A (n.*816G>A)
n.4459G>A
n.3060G>A
c.3571G>A (p.Val1191Ile)
c.3619G>A (p.Val1207Ile)
c.3679G>A (p.Val1227Ile)
c.3229G>A (p.Val1077Ile)
c.1531G>A (p.Val511Ile)
c.1348G>A (p.Val450Ile)
c.3580G>A (p.Val1194Ile)
c.3532G>A (p.Val1178Ile)
c.3301G>A (p.Val1101Ile)
c.3202G>A (p.Val1068Ile)
c.2383G>A (p.Val795Ile)
n.3934G>A
 dbSNP gnomAD v2 gnomAD v4
13g.51937664_51937666delinsCTTCA2091554313ATP7Bc.*1363_*1365delinsAAG (n.*1363_*1365delinsAAG)
c.*2457_*2459delinsAAG (n.*2457_*2459delinsAAG)
c.3092_3094delinsAAG (p.Lys1031=)
c.3713_3715delinsAAG (p.Lys1238=)
c.3380_3382delinsAAG (p.Lys1127=)
c.3461_3463delinsAAG (p.Lys1154=)
n.954_956delinsAAG
c.3479_3481delinsAAG (p.Lys1160=)
n.3852_3854delinsAAG
n.579_581delinsAAG
c.2648_2650delinsAAG (p.Lys883=)
c.2423_2425delinsAAG (p.Lys808=)
c.3518_3520delinsAAG (p.Lys1173=)
c.1491_1493delinsAAG
c.*814_*816delinsAAG (n.*814_*816delinsAAG)
n.4457_4459delinsAAG
n.3058_3060delinsAAG
c.3569_3571delinsAAG (p.Lys1190=)
c.3617_3619delinsAAG (p.Lys1206=)
c.3677_3679delinsAAG (p.Lys1226=)
c.3227_3229delinsAAG (p.Lys1076=)
c.1529_1531delinsAAG (p.Lys510=)
c.1346_1348delinsAAG (p.Lys449=)
c.3578_3580delinsAAG (p.Lys1193=)
c.3530_3532delinsAAG (p.Lys1177=)
c.3299_3301delinsAAG (p.Lys1100=)
c.3200_3202delinsAAG (p.Lys1067=)
c.2381_2383delinsAAG (p.Lys794=)
n.3932_3934delinsAAG
13g.51937665T>ACA388022594ATP7Bc.*1364A>T (n.*1364A>T)
c.*2458A>T (n.*2458A>T)
c.3093A>T (p.Lys1031Asn)
c.3714A>T (p.Lys1238Asn)
c.3381A>T (p.Lys1127Asn)
c.3462A>T (p.Lys1154Asn)
n.955A>T
c.3480A>T (p.Lys1160Asn)
n.3853A>T
n.580A>T
c.2649A>T (p.Lys883Asn)
c.2424A>T (p.Lys808Asn)
c.3519A>T (p.Lys1173Asn)
c.1492A>T
c.*815A>T (n.*815A>T)
n.4458A>T
n.3059A>T
c.3570A>T (p.Lys1190Asn)
c.3618A>T (p.Lys1206Asn)
c.3678A>T (p.Lys1226Asn)
c.3228A>T (p.Lys1076Asn)
c.1530A>T (p.Lys510Asn)
c.1347A>T (p.Lys449Asn)
c.3579A>T (p.Lys1193Asn)
c.3531A>T (p.Lys1177Asn)
c.3300A>T (p.Lys1100Asn)
c.3201A>T (p.Lys1067Asn)
c.2382A>T (p.Lys794Asn)
n.3933A>T
13g.51937665T>CCA484024777ATP7Bc.*1364A>G (n.*1364A>G)
c.*2458A>G (n.*2458A>G)
c.3093A>G (p.Lys1031=)
c.3714A>G (p.Lys1238=)
c.3381A>G (p.Lys1127=)
c.3462A>G (p.Lys1154=)
n.955A>G
c.3480A>G (p.Lys1160=)
n.3853A>G
n.580A>G
c.2649A>G (p.Lys883=)
c.2424A>G (p.Lys808=)
c.3519A>G (p.Lys1173=)
c.1492A>G
c.*815A>G (n.*815A>G)
n.4458A>G
n.3059A>G
c.3570A>G (p.Lys1190=)
c.3618A>G (p.Lys1206=)
c.3678A>G (p.Lys1226=)
c.3228A>G (p.Lys1076=)
c.1530A>G (p.Lys510=)
c.1347A>G (p.Lys449=)
c.3579A>G (p.Lys1193=)
c.3531A>G (p.Lys1177=)
c.3300A>G (p.Lys1100=)
c.3201A>G (p.Lys1067=)
c.2382A>G (p.Lys794=)
n.3933A>G
13g.51937665T>GCA388022595ATP7Bc.*1364A>C (n.*1364A>C)
c.*2458A>C (n.*2458A>C)
c.3093A>C (p.Lys1031Asn)
c.3714A>C (p.Lys1238Asn)
c.3381A>C (p.Lys1127Asn)
c.3462A>C (p.Lys1154Asn)
n.955A>C
c.3480A>C (p.Lys1160Asn)
n.3853A>C
n.580A>C
c.2649A>C (p.Lys883Asn)
c.2424A>C (p.Lys808Asn)
c.3519A>C (p.Lys1173Asn)
c.1492A>C
c.*815A>C (n.*815A>C)
n.4458A>C
n.3059A>C
c.3570A>C (p.Lys1190Asn)
c.3618A>C (p.Lys1206Asn)
c.3678A>C (p.Lys1226Asn)
c.3228A>C (p.Lys1076Asn)
c.1530A>C (p.Lys510Asn)
c.1347A>C (p.Lys449Asn)
c.3579A>C (p.Lys1193Asn)
c.3531A>C (p.Lys1177Asn)
c.3300A>C (p.Lys1100Asn)
c.3201A>C (p.Lys1067Asn)
c.2382A>C (p.Lys794Asn)
n.3933A>C
 gnomAD v4
13g.51937666_51937667delCA2091554317ATP7Bc.*1363_*1364del (n.*1363_*1364del)
c.*2457_*2458del (n.*2457_*2458del)
c.3092_3093del (p.Lys1031SerfsTer20)
c.3713_3714del (p.Lys1238SerfsTer20)
c.3380_3381del (p.Lys1127SerfsTer20)
c.3461_3462del (p.Lys1154SerfsTer20)
n.954_955del
c.3479_3480del (p.Lys1160SerfsTer20)
n.3852_3853del
n.579_580del
c.2648_2649del (p.Lys883SerfsTer20)
c.2423_2424del (p.Lys808SerfsTer20)
c.3518_3519del (p.Lys1173SerfsTer20)
c.1491_1492del
c.*814_*815del (n.*814_*815del)
n.4457_4458del
n.3058_3059del
c.3569_3570del (p.Lys1190SerfsTer20)
c.3617_3618del (p.Lys1206SerfsTer20)
c.3677_3678del (p.Lys1226SerfsTer20)
c.3227_3228del (p.Lys1076SerfsTer20)
c.1529_1530del (p.Lys510SerfsTer20)
c.1346_1347del (p.Lys449SerfsTer20)
c.3578_3579del (p.Lys1193SerfsTer20)
c.3530_3531del (p.Lys1177SerfsTer20)
c.3299_3300del (p.Lys1100SerfsTer20)
c.3200_3201del (p.Lys1067SerfsTer20)
c.2381_2382del (p.Lys794SerfsTer20)
n.3932_3933del
 dbSNP
13g.51937666T>ACA388022596ATP7Bc.*1363A>T (n.*1363A>T)
c.*2457A>T (n.*2457A>T)
c.3092A>T (p.Lys1031Ile)
c.3713A>T (p.Lys1238Ile)
c.3380A>T (p.Lys1127Ile)
c.3461A>T (p.Lys1154Ile)
n.954A>T
c.3479A>T (p.Lys1160Ile)
n.3852A>T
n.579A>T
c.2648A>T (p.Lys883Ile)
c.2423A>T (p.Lys808Ile)
c.3518A>T (p.Lys1173Ile)
c.1491A>T
c.*814A>T (n.*814A>T)
n.4457A>T
n.3058A>T
c.3569A>T (p.Lys1190Ile)
c.3617A>T (p.Lys1206Ile)
c.3677A>T (p.Lys1226Ile)
c.3227A>T (p.Lys1076Ile)
c.1529A>T (p.Lys510Ile)
c.1346A>T (p.Lys449Ile)
c.3578A>T (p.Lys1193Ile)
c.3530A>T (p.Lys1177Ile)
c.3299A>T (p.Lys1100Ile)
c.3200A>T (p.Lys1067Ile)
c.2381A>T (p.Lys794Ile)
n.3932A>T
13g.51937666T>CCA388022600ATP7Bc.*1363A>G (n.*1363A>G)
c.*2457A>G (n.*2457A>G)
c.3092A>G (p.Lys1031Arg)
c.3713A>G (p.Lys1238Arg)
c.3380A>G (p.Lys1127Arg)
c.3461A>G (p.Lys1154Arg)
n.954A>G
c.3479A>G (p.Lys1160Arg)
n.3852A>G
n.579A>G
c.2648A>G (p.Lys883Arg)
c.2423A>G (p.Lys808Arg)
c.3518A>G (p.Lys1173Arg)
c.1491A>G
c.*814A>G (n.*814A>G)
n.4457A>G
n.3058A>G
c.3569A>G (p.Lys1190Arg)
c.3617A>G (p.Lys1206Arg)
c.3677A>G (p.Lys1226Arg)
c.3227A>G (p.Lys1076Arg)
c.1529A>G (p.Lys510Arg)
c.1346A>G (p.Lys449Arg)
c.3578A>G (p.Lys1193Arg)
c.3530A>G (p.Lys1177Arg)
c.3299A>G (p.Lys1100Arg)
c.3200A>G (p.Lys1067Arg)
c.2381A>G (p.Lys794Arg)
n.3932A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51937666T>GCA388022601ATP7Bc.*1363A>C (n.*1363A>C)
c.*2457A>C (n.*2457A>C)
c.3092A>C (p.Lys1031Thr)
c.3713A>C (p.Lys1238Thr)
c.3380A>C (p.Lys1127Thr)
c.3461A>C (p.Lys1154Thr)
n.954A>C
c.3479A>C (p.Lys1160Thr)
n.3852A>C
n.579A>C
c.2648A>C (p.Lys883Thr)
c.2423A>C (p.Lys808Thr)
c.3518A>C (p.Lys1173Thr)
c.1491A>C
c.*814A>C (n.*814A>C)
n.4457A>C
n.3058A>C
c.3569A>C (p.Lys1190Thr)
c.3617A>C (p.Lys1206Thr)
c.3677A>C (p.Lys1226Thr)
c.3227A>C (p.Lys1076Thr)
c.1529A>C (p.Lys510Thr)
c.1346A>C (p.Lys449Thr)
c.3578A>C (p.Lys1193Thr)
c.3530A>C (p.Lys1177Thr)
c.3299A>C (p.Lys1100Thr)
c.3200A>C (p.Lys1067Thr)
c.2381A>C (p.Lys794Thr)
n.3932A>C
13g.51937666T=CA2091554321ATP7Bc.*1363A= (n.*1363A=)
c.*2457A= (n.*2457A=)
c.3092A= (p.Lys1031=)
c.3713A= (p.Lys1238=)
c.3380A= (p.Lys1127=)
c.3461A= (p.Lys1154=)
n.954A=
c.3479A= (p.Lys1160=)
n.3852A=
n.579A=
c.2648A= (p.Lys883=)
c.2423A= (p.Lys808=)
c.3518A= (p.Lys1173=)
c.1491A=
c.*814A= (n.*814A=)
n.4457A=
n.3058A=
c.3569A= (p.Lys1190=)
c.3617A= (p.Lys1206=)
c.3677A= (p.Lys1226=)
c.3227A= (p.Lys1076=)
c.1529A= (p.Lys510=)
c.1346A= (p.Lys449=)
c.3578A= (p.Lys1193=)
c.3530A= (p.Lys1177=)
c.3299A= (p.Lys1100=)
c.3200A= (p.Lys1067=)
c.2381A= (p.Lys794=)
n.3932A=
13g.51937667T>ACA388022610ATP7Bc.*1362A>T (n.*1362A>T)
c.*2456A>T (n.*2456A>T)
c.3091A>T (p.Lys1031Ter)
c.3712A>T (p.Lys1238Ter)
c.3379A>T (p.Lys1127Ter)
c.3460A>T (p.Lys1154Ter)
n.953A>T
c.3478A>T (p.Lys1160Ter)
n.3851A>T
n.578A>T
c.2647A>T (p.Lys883Ter)
c.2422A>T (p.Lys808Ter)
c.3517A>T (p.Lys1173Ter)
c.1490A>T
c.*813A>T (n.*813A>T)
n.4456A>T
n.3057A>T
c.3568A>T (p.Lys1190Ter)
c.3616A>T (p.Lys1206Ter)
c.3676A>T (p.Lys1226Ter)
c.3226A>T (p.Lys1076Ter)
c.1528A>T (p.Lys510Ter)
c.1345A>T (p.Lys449Ter)
c.3577A>T (p.Lys1193Ter)
c.3529A>T (p.Lys1177Ter)
c.3298A>T (p.Lys1100Ter)
c.3199A>T (p.Lys1067Ter)
c.2380A>T (p.Lys794Ter)
n.3931A>T
13g.51937667T>CCA388022613ATP7Bc.*1362A>G (n.*1362A>G)
c.*2456A>G (n.*2456A>G)
c.3091A>G (p.Lys1031Glu)
c.3712A>G (p.Lys1238Glu)
c.3379A>G (p.Lys1127Glu)
c.3460A>G (p.Lys1154Glu)
n.953A>G
c.3478A>G (p.Lys1160Glu)
n.3851A>G
n.578A>G
c.2647A>G (p.Lys883Glu)
c.2422A>G (p.Lys808Glu)
c.3517A>G (p.Lys1173Glu)
c.1490A>G
c.*813A>G (n.*813A>G)
n.4456A>G
n.3057A>G
c.3568A>G (p.Lys1190Glu)
c.3616A>G (p.Lys1206Glu)
c.3676A>G (p.Lys1226Glu)
c.3226A>G (p.Lys1076Glu)
c.1528A>G (p.Lys510Glu)
c.1345A>G (p.Lys449Glu)
c.3577A>G (p.Lys1193Glu)
c.3529A>G (p.Lys1177Glu)
c.3298A>G (p.Lys1100Glu)
c.3199A>G (p.Lys1067Glu)
c.2380A>G (p.Lys794Glu)
n.3931A>G
 gnomAD v4
13g.51937667T>GCA388022614ATP7Bc.*1362A>C (n.*1362A>C)
c.*2456A>C (n.*2456A>C)
c.3091A>C (p.Lys1031Gln)
c.3712A>C (p.Lys1238Gln)
c.3379A>C (p.Lys1127Gln)
c.3460A>C (p.Lys1154Gln)
n.953A>C
c.3478A>C (p.Lys1160Gln)
n.3851A>C
n.578A>C
c.2647A>C (p.Lys883Gln)
c.2422A>C (p.Lys808Gln)
c.3517A>C (p.Lys1173Gln)
c.1490A>C
c.*813A>C (n.*813A>C)
n.4456A>C
n.3057A>C
c.3568A>C (p.Lys1190Gln)
c.3616A>C (p.Lys1206Gln)
c.3676A>C (p.Lys1226Gln)
c.3226A>C (p.Lys1076Gln)
c.1528A>C (p.Lys510Gln)
c.1345A>C (p.Lys449Gln)
c.3577A>C (p.Lys1193Gln)
c.3529A>C (p.Lys1177Gln)
c.3298A>C (p.Lys1100Gln)
c.3199A>C (p.Lys1067Gln)
c.2380A>C (p.Lys794Gln)
n.3931A>C
 dbSNP
13g.51937668G>ACA484024783ATP7Bc.*1361C>T (n.*1361C>T)
c.*2455C>T (n.*2455C>T)
c.3090C>T (p.Asn1030=)
c.3711C>T (p.Asn1237=)
c.3378C>T (p.Asn1126=)
c.3459C>T (p.Asn1153=)
n.952C>T
c.3477C>T (p.Asn1159=)
n.3850C>T
n.577C>T
c.2646C>T (p.Asn882=)
c.2421C>T (p.Asn807=)
c.3516C>T (p.Asn1172=)
c.1489C>T
c.*812C>T (n.*812C>T)
n.4455C>T
n.3056C>T
c.3567C>T (p.Asn1189=)
c.3615C>T (p.Asn1205=)
c.3675C>T (p.Asn1225=)
c.3225C>T (p.Asn1075=)
c.1527C>T (p.Asn509=)
c.1344C>T (p.Asn448=)
c.3576C>T (p.Asn1192=)
c.3528C>T (p.Asn1176=)
c.3297C>T (p.Asn1099=)
c.3198C>T (p.Asn1066=)
c.2379C>T (p.Asn793=)
n.3930C>T
 gnomAD v4
13g.51937668G>CCA388022615ATP7Bc.*1361C>G (n.*1361C>G)
c.*2455C>G (n.*2455C>G)
c.3090C>G (p.Asn1030Lys)
c.3711C>G (p.Asn1237Lys)
c.3378C>G (p.Asn1126Lys)
c.3459C>G (p.Asn1153Lys)
n.952C>G
c.3477C>G (p.Asn1159Lys)
n.3850C>G
n.577C>G
c.2646C>G (p.Asn882Lys)
c.2421C>G (p.Asn807Lys)
c.3516C>G (p.Asn1172Lys)
c.1489C>G
c.*812C>G (n.*812C>G)
n.4455C>G
n.3056C>G
c.3567C>G (p.Asn1189Lys)
c.3615C>G (p.Asn1205Lys)
c.3675C>G (p.Asn1225Lys)
c.3225C>G (p.Asn1075Lys)
c.1527C>G (p.Asn509Lys)
c.1344C>G (p.Asn448Lys)
c.3576C>G (p.Asn1192Lys)
c.3528C>G (p.Asn1176Lys)
c.3297C>G (p.Asn1099Lys)
c.3198C>G (p.Asn1066Lys)
c.2379C>G (p.Asn793Lys)
n.3930C>G
13g.51937668G>TCA388022616ATP7Bc.*1361C>A (n.*1361C>A)
c.*2455C>A (n.*2455C>A)
c.3090C>A (p.Asn1030Lys)
c.3711C>A (p.Asn1237Lys)
c.3378C>A (p.Asn1126Lys)
c.3459C>A (p.Asn1153Lys)
n.952C>A
c.3477C>A (p.Asn1159Lys)
n.3850C>A
n.577C>A
c.2646C>A (p.Asn882Lys)
c.2421C>A (p.Asn807Lys)
c.3516C>A (p.Asn1172Lys)
c.1489C>A
c.*812C>A (n.*812C>A)
n.4455C>A
n.3056C>A
c.3567C>A (p.Asn1189Lys)
c.3615C>A (p.Asn1205Lys)
c.3675C>A (p.Asn1225Lys)
c.3225C>A (p.Asn1075Lys)
c.1527C>A (p.Asn509Lys)
c.1344C>A (p.Asn448Lys)
c.3576C>A (p.Asn1192Lys)
c.3528C>A (p.Asn1176Lys)
c.3297C>A (p.Asn1099Lys)
c.3198C>A (p.Asn1066Lys)
c.2379C>A (p.Asn793Lys)
n.3930C>A
13g.51937669T>ACA388022617ATP7Bc.*1360A>T (n.*1360A>T)
c.*2454A>T (n.*2454A>T)
c.3089A>T (p.Asn1030Ile)
c.3710A>T (p.Asn1237Ile)
c.3377A>T (p.Asn1126Ile)
c.3458A>T (p.Asn1153Ile)
n.951A>T
c.3476A>T (p.Asn1159Ile)
n.3849A>T
n.576A>T
c.2645A>T (p.Asn882Ile)
c.2420A>T (p.Asn807Ile)
c.3515A>T (p.Asn1172Ile)
c.1488A>T
c.*811A>T (n.*811A>T)
n.4454A>T
n.3055A>T
c.3566A>T (p.Asn1189Ile)
c.3614A>T (p.Asn1205Ile)
c.3674A>T (p.Asn1225Ile)
c.3224A>T (p.Asn1075Ile)
c.1526A>T (p.Asn509Ile)
c.1343A>T (p.Asn448Ile)
c.3575A>T (p.Asn1192Ile)
c.3527A>T (p.Asn1176Ile)
c.3296A>T (p.Asn1099Ile)
c.3197A>T (p.Asn1066Ile)
c.2378A>T (p.Asn793Ile)
n.3929A>T
13g.51937669T>CCA388022618ATP7Bc.*1360A>G (n.*1360A>G)
c.*2454A>G (n.*2454A>G)
c.3089A>G (p.Asn1030Ser)
c.3710A>G (p.Asn1237Ser)
c.3377A>G (p.Asn1126Ser)
c.3458A>G (p.Asn1153Ser)
n.951A>G
c.3476A>G (p.Asn1159Ser)
n.3849A>G
n.576A>G
c.2645A>G (p.Asn882Ser)
c.2420A>G (p.Asn807Ser)
c.3515A>G (p.Asn1172Ser)
c.1488A>G
c.*811A>G (n.*811A>G)
n.4454A>G
n.3055A>G
c.3566A>G (p.Asn1189Ser)
c.3614A>G (p.Asn1205Ser)
c.3674A>G (p.Asn1225Ser)
c.3224A>G (p.Asn1075Ser)
c.1526A>G (p.Asn509Ser)
c.1343A>G (p.Asn448Ser)
c.3575A>G (p.Asn1192Ser)
c.3527A>G (p.Asn1176Ser)
c.3296A>G (p.Asn1099Ser)
c.3197A>G (p.Asn1066Ser)
c.2378A>G (p.Asn793Ser)
n.3929A>G
13g.51937669T>GCA388022620ATP7Bc.*1360A>C (n.*1360A>C)
c.*2454A>C (n.*2454A>C)
c.3089A>C (p.Asn1030Thr)
c.3710A>C (p.Asn1237Thr)
c.3377A>C (p.Asn1126Thr)
c.3458A>C (p.Asn1153Thr)
n.951A>C
c.3476A>C (p.Asn1159Thr)
n.3849A>C
n.576A>C
c.2645A>C (p.Asn882Thr)
c.2420A>C (p.Asn807Thr)
c.3515A>C (p.Asn1172Thr)
c.1488A>C
c.*811A>C (n.*811A>C)
n.4454A>C
n.3055A>C
c.3566A>C (p.Asn1189Thr)
c.3614A>C (p.Asn1205Thr)
c.3674A>C (p.Asn1225Thr)
c.3224A>C (p.Asn1075Thr)
c.1526A>C (p.Asn509Thr)
c.1343A>C (p.Asn448Thr)
c.3575A>C (p.Asn1192Thr)
c.3527A>C (p.Asn1176Thr)
c.3296A>C (p.Asn1099Thr)
c.3197A>C (p.Asn1066Thr)
c.2378A>C (p.Asn793Thr)
n.3929A>C
13g.51937670T>ACA388022626ATP7Bc.*1359A>T (n.*1359A>T)
c.*2453A>T (n.*2453A>T)
c.3088A>T (p.Asn1030Tyr)
c.3709A>T (p.Asn1237Tyr)
c.3376A>T (p.Asn1126Tyr)
c.3457A>T (p.Asn1153Tyr)
n.950A>T
c.3475A>T (p.Asn1159Tyr)
n.3848A>T
n.575A>T
c.2644A>T (p.Asn882Tyr)
c.2419A>T (p.Asn807Tyr)
c.3514A>T (p.Asn1172Tyr)
c.1487A>T
c.*810A>T (n.*810A>T)
n.4453A>T
n.3054A>T
c.3565A>T (p.Asn1189Tyr)
c.3613A>T (p.Asn1205Tyr)
c.3673A>T (p.Asn1225Tyr)
c.3223A>T (p.Asn1075Tyr)
c.1525A>T (p.Asn509Tyr)
c.1342A>T (p.Asn448Tyr)
c.3574A>T (p.Asn1192Tyr)
c.3526A>T (p.Asn1176Tyr)
c.3295A>T (p.Asn1099Tyr)
c.3196A>T (p.Asn1066Tyr)
c.2377A>T (p.Asn793Tyr)
n.3928A>T
13g.51937670T>CCA388022630ATP7Bc.*1359A>G (n.*1359A>G)
c.*2453A>G (n.*2453A>G)
c.3088A>G (p.Asn1030Asp)
c.3709A>G (p.Asn1237Asp)
c.3376A>G (p.Asn1126Asp)
c.3457A>G (p.Asn1153Asp)
n.950A>G
c.3475A>G (p.Asn1159Asp)
n.3848A>G
n.575A>G
c.2644A>G (p.Asn882Asp)
c.2419A>G (p.Asn807Asp)
c.3514A>G (p.Asn1172Asp)
c.1487A>G
c.*810A>G (n.*810A>G)
n.4453A>G
n.3054A>G
c.3565A>G (p.Asn1189Asp)
c.3613A>G (p.Asn1205Asp)
c.3673A>G (p.Asn1225Asp)
c.3223A>G (p.Asn1075Asp)
c.1525A>G (p.Asn509Asp)
c.1342A>G (p.Asn448Asp)
c.3574A>G (p.Asn1192Asp)
c.3526A>G (p.Asn1176Asp)
c.3295A>G (p.Asn1099Asp)
c.3196A>G (p.Asn1066Asp)
c.2377A>G (p.Asn793Asp)
n.3928A>G
13g.51937670T>GCA388022623ATP7Bc.*1359A>C (n.*1359A>C)
c.*2453A>C (n.*2453A>C)
c.3088A>C (p.Asn1030His)
c.3709A>C (p.Asn1237His)
c.3376A>C (p.Asn1126His)
c.3457A>C (p.Asn1153His)
n.950A>C
c.3475A>C (p.Asn1159His)
n.3848A>C
n.575A>C
c.2644A>C (p.Asn882His)
c.2419A>C (p.Asn807His)
c.3514A>C (p.Asn1172His)
c.1487A>C
c.*810A>C (n.*810A>C)
n.4453A>C
n.3054A>C
c.3565A>C (p.Asn1189His)
c.3613A>C (p.Asn1205His)
c.3673A>C (p.Asn1225His)
c.3223A>C (p.Asn1075His)
c.1525A>C (p.Asn509His)
c.1342A>C (p.Asn448His)
c.3574A>C (p.Asn1192His)
c.3526A>C (p.Asn1176His)
c.3295A>C (p.Asn1099His)
c.3196A>C (p.Asn1066His)
c.2377A>C (p.Asn793His)
n.3928A>C
13g.51937671G>ACA484024789ATP7Bc.*1358C>T (n.*1358C>T)
c.*2452C>T (n.*2452C>T)
c.3087C>T (p.Ile1029=)
c.3708C>T (p.Ile1236=)
c.3375C>T (p.Ile1125=)
c.3456C>T (p.Ile1152=)
n.949C>T
c.3474C>T (p.Ile1158=)
n.3847C>T
n.574C>T
c.2643C>T (p.Ile881=)
c.2418C>T (p.Ile806=)
c.3513C>T (p.Ile1171=)
c.1486C>T
c.*809C>T (n.*809C>T)
n.4452C>T
n.3053C>T
c.3564C>T (p.Ile1188=)
c.3612C>T (p.Ile1204=)
c.3672C>T (p.Ile1224=)
c.3222C>T (p.Ile1074=)
c.1524C>T (p.Ile508=)
c.1341C>T (p.Ile447=)
c.3573C>T (p.Ile1191=)
c.3525C>T (p.Ile1175=)
c.3294C>T (p.Ile1098=)
c.3195C>T (p.Ile1065=)
c.2376C>T (p.Ile792=)
n.3927C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.51937671G>CCA388022633ATP7Bc.*1358C>G (n.*1358C>G)
c.*2452C>G (n.*2452C>G)
c.3087C>G (p.Ile1029Met)
c.3708C>G (p.Ile1236Met)
c.3375C>G (p.Ile1125Met)
c.3456C>G (p.Ile1152Met)
n.949C>G
c.3474C>G (p.Ile1158Met)
n.3847C>G
n.574C>G
c.2643C>G (p.Ile881Met)
c.2418C>G (p.Ile806Met)
c.3513C>G (p.Ile1171Met)
c.1486C>G
c.*809C>G (n.*809C>G)
n.4452C>G
n.3053C>G
c.3564C>G (p.Ile1188Met)
c.3612C>G (p.Ile1204Met)
c.3672C>G (p.Ile1224Met)
c.3222C>G (p.Ile1074Met)
c.1524C>G (p.Ile508Met)
c.1341C>G (p.Ile447Met)
c.3573C>G (p.Ile1191Met)
c.3525C>G (p.Ile1175Met)
c.3294C>G (p.Ile1098Met)
c.3195C>G (p.Ile1065Met)
c.2376C>G (p.Ile792Met)
n.3927C>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937671G=CA2091554330ATP7Bc.*1358C= (n.*1358C=)
c.*2452C= (n.*2452C=)
c.3087C= (p.Ile1029=)
c.3708C= (p.Ile1236=)
c.3375C= (p.Ile1125=)
c.3456C= (p.Ile1152=)
n.949C=
c.3474C= (p.Ile1158=)
n.3847C=
n.574C=
c.2643C= (p.Ile881=)
c.2418C= (p.Ile806=)
c.3513C= (p.Ile1171=)
c.1486C=
c.*809C= (n.*809C=)
n.4452C=
n.3053C=
c.3564C= (p.Ile1188=)
c.3612C= (p.Ile1204=)
c.3672C= (p.Ile1224=)
c.3222C= (p.Ile1074=)
c.1524C= (p.Ile508=)
c.1341C= (p.Ile447=)
c.3573C= (p.Ile1191=)
c.3525C= (p.Ile1175=)
c.3294C= (p.Ile1098=)
c.3195C= (p.Ile1065=)
c.2376C= (p.Ile792=)
n.3927C=
13g.51937671G>TCA484024791ATP7Bc.*1358C>A (n.*1358C>A)
c.*2452C>A (n.*2452C>A)
c.3087C>A (p.Ile1029=)
c.3708C>A (p.Ile1236=)
c.3375C>A (p.Ile1125=)
c.3456C>A (p.Ile1152=)
n.949C>A
c.3474C>A (p.Ile1158=)
n.3847C>A
n.574C>A
c.2643C>A (p.Ile881=)
c.2418C>A (p.Ile806=)
c.3513C>A (p.Ile1171=)
c.1486C>A
c.*809C>A (n.*809C>A)
n.4452C>A
n.3053C>A
c.3564C>A (p.Ile1188=)
c.3612C>A (p.Ile1204=)
c.3672C>A (p.Ile1224=)
c.3222C>A (p.Ile1074=)
c.1524C>A (p.Ile508=)
c.1341C>A (p.Ile447=)
c.3573C>A (p.Ile1191=)
c.3525C>A (p.Ile1175=)
c.3294C>A (p.Ile1098=)
c.3195C>A (p.Ile1065=)
c.2376C>A (p.Ile792=)
n.3927C>A
13g.51937672delCA2580087717ATP7Bc.*1357del (n.*1357del)
c.*2451del (n.*2451del)
c.3086del (p.Ile1029ThrfsTer?)
c.3707del (p.Ile1236ThrfsTer?)
c.3374del (p.Ile1125ThrfsTer?)
c.3455del (p.Ile1152ThrfsTer?)
n.948del
c.3473del (p.Ile1158ThrfsTer?)
n.3846del
n.573del
c.2642del (p.Ile881ThrfsTer?)
c.2417del (p.Ile806ThrfsTer?)
c.3512del (p.Ile1171ThrfsTer?)
c.1485del
c.*808del (n.*808del)
n.4451del
n.3052del
c.3563del (p.Ile1188ThrfsTer?)
c.3611del (p.Ile1204ThrfsTer?)
c.3671del (p.Ile1224ThrfsTer?)
c.3221del (p.Ile1074ThrfsTer?)
c.1523del (p.Ile508ThrfsTer?)
c.1340del (p.Ile447ThrfsTer?)
c.3572del (p.Ile1191ThrfsTer?)
c.3524del (p.Ile1175ThrfsTer?)
c.3293del (p.Ile1098ThrfsTer?)
c.3194del (p.Ile1065ThrfsTer?)
c.2375del (p.Ile792ThrfsTer?)
n.3926del
 ClinVar
13g.51937672A>CCA388022636ATP7Bc.*1357T>G (n.*1357T>G)
c.*2451T>G (n.*2451T>G)
c.3086T>G (p.Ile1029Ser)
c.3707T>G (p.Ile1236Ser)
c.3374T>G (p.Ile1125Ser)
c.3455T>G (p.Ile1152Ser)
n.948T>G
c.3473T>G (p.Ile1158Ser)
n.3846T>G
n.573T>G
c.2642T>G (p.Ile881Ser)
c.2417T>G (p.Ile806Ser)
c.3512T>G (p.Ile1171Ser)
c.1485T>G
c.*808T>G (n.*808T>G)
n.4451T>G
n.3052T>G
c.3563T>G (p.Ile1188Ser)
c.3611T>G (p.Ile1204Ser)
c.3671T>G (p.Ile1224Ser)
c.3221T>G (p.Ile1074Ser)
c.1523T>G (p.Ile508Ser)
c.1340T>G (p.Ile447Ser)
c.3572T>G (p.Ile1191Ser)
c.3524T>G (p.Ile1175Ser)
c.3293T>G (p.Ile1098Ser)
c.3194T>G (p.Ile1065Ser)
c.2375T>G (p.Ile792Ser)
n.3926T>G
13g.51937672A>GCA388022639ATP7Bc.*1357T>C (n.*1357T>C)
c.*2451T>C (n.*2451T>C)
c.3086T>C (p.Ile1029Thr)
c.3707T>C (p.Ile1236Thr)
c.3374T>C (p.Ile1125Thr)
c.3455T>C (p.Ile1152Thr)
n.948T>C
c.3473T>C (p.Ile1158Thr)
n.3846T>C
n.573T>C
c.2642T>C (p.Ile881Thr)
c.2417T>C (p.Ile806Thr)
c.3512T>C (p.Ile1171Thr)
c.1485T>C
c.*808T>C (n.*808T>C)
n.4451T>C
n.3052T>C
c.3563T>C (p.Ile1188Thr)
c.3611T>C (p.Ile1204Thr)
c.3671T>C (p.Ile1224Thr)
c.3221T>C (p.Ile1074Thr)
c.1523T>C (p.Ile508Thr)
c.1340T>C (p.Ile447Thr)
c.3572T>C (p.Ile1191Thr)
c.3524T>C (p.Ile1175Thr)
c.3293T>C (p.Ile1098Thr)
c.3194T>C (p.Ile1065Thr)
c.2375T>C (p.Ile792Thr)
n.3926T>C
13g.51937672A>TCA388022643ATP7Bc.*1357T>A (n.*1357T>A)
c.*2451T>A (n.*2451T>A)
c.3086T>A (p.Ile1029Asn)
c.3707T>A (p.Ile1236Asn)
c.3374T>A (p.Ile1125Asn)
c.3455T>A (p.Ile1152Asn)
n.948T>A
c.3473T>A (p.Ile1158Asn)
n.3846T>A
n.573T>A
c.2642T>A (p.Ile881Asn)
c.2417T>A (p.Ile806Asn)
c.3512T>A (p.Ile1171Asn)
c.1485T>A
c.*808T>A (n.*808T>A)
n.4451T>A
n.3052T>A
c.3563T>A (p.Ile1188Asn)
c.3611T>A (p.Ile1204Asn)
c.3671T>A (p.Ile1224Asn)
c.3221T>A (p.Ile1074Asn)
c.1523T>A (p.Ile508Asn)
c.1340T>A (p.Ile447Asn)
c.3572T>A (p.Ile1191Asn)
c.3524T>A (p.Ile1175Asn)
c.3293T>A (p.Ile1098Asn)
c.3194T>A (p.Ile1065Asn)
c.2375T>A (p.Ile792Asn)
n.3926T>A
13g.51937673T>ACA388022645ATP7Bc.*1356A>T (n.*1356A>T)
c.*2450A>T (n.*2450A>T)
c.3085A>T (p.Ile1029Phe)
c.3706A>T (p.Ile1236Phe)
c.3373A>T (p.Ile1125Phe)
c.3454A>T (p.Ile1152Phe)
n.947A>T
c.3472A>T (p.Ile1158Phe)
n.3845A>T
n.572A>T
c.2641A>T (p.Ile881Phe)
c.2416A>T (p.Ile806Phe)
c.3511A>T (p.Ile1171Phe)
c.1484A>T
c.*807A>T (n.*807A>T)
n.4450A>T
n.3051A>T
c.3562A>T (p.Ile1188Phe)
c.3610A>T (p.Ile1204Phe)
c.3670A>T (p.Ile1224Phe)
c.3220A>T (p.Ile1074Phe)
c.1522A>T (p.Ile508Phe)
c.1339A>T (p.Ile447Phe)
c.3571A>T (p.Ile1191Phe)
c.3523A>T (p.Ile1175Phe)
c.3292A>T (p.Ile1098Phe)
c.3193A>T (p.Ile1065Phe)
c.2374A>T (p.Ile792Phe)
n.3925A>T
13g.51937673T>CCA388022647ATP7Bc.*1356A>G (n.*1356A>G)
c.*2450A>G (n.*2450A>G)
c.3085A>G (p.Ile1029Val)
c.3706A>G (p.Ile1236Val)
c.3373A>G (p.Ile1125Val)
c.3454A>G (p.Ile1152Val)
n.947A>G
c.3472A>G (p.Ile1158Val)
n.3845A>G
n.572A>G
c.2641A>G (p.Ile881Val)
c.2416A>G (p.Ile806Val)
c.3511A>G (p.Ile1171Val)
c.1484A>G
c.*807A>G (n.*807A>G)
n.4450A>G
n.3051A>G
c.3562A>G (p.Ile1188Val)
c.3610A>G (p.Ile1204Val)
c.3670A>G (p.Ile1224Val)
c.3220A>G (p.Ile1074Val)
c.1522A>G (p.Ile508Val)
c.1339A>G (p.Ile447Val)
c.3571A>G (p.Ile1191Val)
c.3523A>G (p.Ile1175Val)
c.3292A>G (p.Ile1098Val)
c.3193A>G (p.Ile1065Val)
c.2374A>G (p.Ile792Val)
n.3925A>G
 dbSNP gnomAD v3 gnomAD v4
13g.51937673T>GCA388022650ATP7Bc.*1356A>C (n.*1356A>C)
c.*2450A>C (n.*2450A>C)
c.3085A>C (p.Ile1029Leu)
c.3706A>C (p.Ile1236Leu)
c.3373A>C (p.Ile1125Leu)
c.3454A>C (p.Ile1152Leu)
n.947A>C
c.3472A>C (p.Ile1158Leu)
n.3845A>C
n.572A>C
c.2641A>C (p.Ile881Leu)
c.2416A>C (p.Ile806Leu)
c.3511A>C (p.Ile1171Leu)
c.1484A>C
c.*807A>C (n.*807A>C)
n.4450A>C
n.3051A>C
c.3562A>C (p.Ile1188Leu)
c.3610A>C (p.Ile1204Leu)
c.3670A>C (p.Ile1224Leu)
c.3220A>C (p.Ile1074Leu)
c.1522A>C (p.Ile508Leu)
c.1339A>C (p.Ile447Leu)
c.3571A>C (p.Ile1191Leu)
c.3523A>C (p.Ile1175Leu)
c.3292A>C (p.Ile1098Leu)
c.3193A>C (p.Ile1065Leu)
c.2374A>C (p.Ile792Leu)
n.3925A>C
13g.51937673T=CA2091554336ATP7Bc.*1356A= (n.*1356A=)
c.*2450A= (n.*2450A=)
c.3085A= (p.Ile1029=)
c.3706A= (p.Ile1236=)
c.3373A= (p.Ile1125=)
c.3454A= (p.Ile1152=)
n.947A=
c.3472A= (p.Ile1158=)
n.3845A=
n.572A=
c.2641A= (p.Ile881=)
c.2416A= (p.Ile806=)
c.3511A= (p.Ile1171=)
c.1484A=
c.*807A= (n.*807A=)
n.4450A=
n.3051A=
c.3562A= (p.Ile1188=)
c.3610A= (p.Ile1204=)
c.3670A= (p.Ile1224=)
c.3220A= (p.Ile1074=)
c.1522A= (p.Ile508=)
c.1339A= (p.Ile447=)
c.3571A= (p.Ile1191=)
c.3523A= (p.Ile1175=)
c.3292A= (p.Ile1098=)
c.3193A= (p.Ile1065=)
c.2374A= (p.Ile792=)
n.3925A=
13g.51937674G>ACA484024795ATP7Bc.*1355C>T (n.*1355C>T)
c.*2449C>T (n.*2449C>T)
c.3084C>T (p.Gly1028=)
c.3705C>T (p.Gly1235=)
c.3372C>T (p.Gly1124=)
c.3453C>T (p.Gly1151=)
n.946C>T
c.3471C>T (p.Gly1157=)
n.3844C>T
n.571C>T
c.2640C>T (p.Gly880=)
c.2415C>T (p.Gly805=)
c.3510C>T (p.Gly1170=)
c.1483C>T
c.*806C>T (n.*806C>T)
n.4449C>T
n.3050C>T
c.3561C>T (p.Gly1187=)
c.3609C>T (p.Gly1203=)
c.3669C>T (p.Gly1223=)
c.3219C>T (p.Gly1073=)
c.1521C>T (p.Gly507=)
c.1338C>T (p.Gly446=)
c.3570C>T (p.Gly1190=)
c.3522C>T (p.Gly1174=)
c.3291C>T (p.Gly1097=)
c.3192C>T (p.Gly1064=)
c.2373C>T (p.Gly791=)
n.3924C>T
13g.51937674G>CCA484024797ATP7Bc.*1355C>G (n.*1355C>G)
c.*2449C>G (n.*2449C>G)
c.3084C>G (p.Gly1028=)
c.3705C>G (p.Gly1235=)
c.3372C>G (p.Gly1124=)
c.3453C>G (p.Gly1151=)
n.946C>G
c.3471C>G (p.Gly1157=)
n.3844C>G
n.571C>G
c.2640C>G (p.Gly880=)
c.2415C>G (p.Gly805=)
c.3510C>G (p.Gly1170=)
c.1483C>G
c.*806C>G (n.*806C>G)
n.4449C>G
n.3050C>G
c.3561C>G (p.Gly1187=)
c.3609C>G (p.Gly1203=)
c.3669C>G (p.Gly1223=)
c.3219C>G (p.Gly1073=)
c.1521C>G (p.Gly507=)
c.1338C>G (p.Gly446=)
c.3570C>G (p.Gly1190=)
c.3522C>G (p.Gly1174=)
c.3291C>G (p.Gly1097=)
c.3192C>G (p.Gly1064=)
c.2373C>G (p.Gly791=)
n.3924C>G
13g.51937674G>TCA484024799ATP7Bc.*1355C>A (n.*1355C>A)
c.*2449C>A (n.*2449C>A)
c.3084C>A (p.Gly1028=)
c.3705C>A (p.Gly1235=)
c.3372C>A (p.Gly1124=)
c.3453C>A (p.Gly1151=)
n.946C>A
c.3471C>A (p.Gly1157=)
n.3844C>A
n.571C>A
c.2640C>A (p.Gly880=)
c.2415C>A (p.Gly805=)
c.3510C>A (p.Gly1170=)
c.1483C>A
c.*806C>A (n.*806C>A)
n.4449C>A
n.3050C>A
c.3561C>A (p.Gly1187=)
c.3609C>A (p.Gly1203=)
c.3669C>A (p.Gly1223=)
c.3219C>A (p.Gly1073=)
c.1521C>A (p.Gly507=)
c.1338C>A (p.Gly446=)
c.3570C>A (p.Gly1190=)
c.3522C>A (p.Gly1174=)
c.3291C>A (p.Gly1097=)
c.3192C>A (p.Gly1064=)
c.2373C>A (p.Gly791=)
n.3924C>A
13g.51937675C>ACA388022653ATP7Bc.*1354G>T (n.*1354G>T)
c.*2448G>T (n.*2448G>T)
c.3083G>T (p.Gly1028Val)
c.3704G>T (p.Gly1235Val)
c.3371G>T (p.Gly1124Val)
c.3452G>T (p.Gly1151Val)
n.945G>T
c.3470G>T (p.Gly1157Val)
n.3843G>T
n.570G>T
c.2639G>T (p.Gly880Val)
c.2414G>T (p.Gly805Val)
c.3509G>T (p.Gly1170Val)
c.1482G>T
c.*805G>T (n.*805G>T)
n.4448G>T
n.3049G>T
c.3560G>T (p.Gly1187Val)
c.3608G>T (p.Gly1203Val)
c.3668G>T (p.Gly1223Val)
c.3218G>T (p.Gly1073Val)
c.1520G>T (p.Gly507Val)
c.1337G>T (p.Gly446Val)
c.3569G>T (p.Gly1190Val)
c.3521G>T (p.Gly1174Val)
c.3290G>T (p.Gly1097Val)
c.3191G>T (p.Gly1064Val)
c.2372G>T (p.Gly791Val)
n.3923G>T
13g.51937675C=CA2091554337ATP7Bc.*1354G= (n.*1354G=)
c.*2448G= (n.*2448G=)
c.3083G= (p.Gly1028=)
c.3704G= (p.Gly1235=)
c.3371G= (p.Gly1124=)
c.3452G= (p.Gly1151=)
n.945G=
c.3470G= (p.Gly1157=)
n.3843G=
n.570G=
c.2639G= (p.Gly880=)
c.2414G= (p.Gly805=)
c.3509G= (p.Gly1170=)
c.1482G=
c.*805G= (n.*805G=)
n.4448G=
n.3049G=
c.3560G= (p.Gly1187=)
c.3608G= (p.Gly1203=)
c.3668G= (p.Gly1223=)
c.3218G= (p.Gly1073=)
c.1520G= (p.Gly507=)
c.1337G= (p.Gly446=)
c.3569G= (p.Gly1190=)
c.3521G= (p.Gly1174=)
c.3290G= (p.Gly1097=)
c.3191G= (p.Gly1064=)
c.2372G= (p.Gly791=)
n.3923G=
13g.51937675C>GCA388022656ATP7Bc.*1354G>C (n.*1354G>C)
c.*2448G>C (n.*2448G>C)
c.3083G>C (p.Gly1028Ala)
c.3704G>C (p.Gly1235Ala)
c.3371G>C (p.Gly1124Ala)
c.3452G>C (p.Gly1151Ala)
n.945G>C
c.3470G>C (p.Gly1157Ala)
n.3843G>C
n.570G>C
c.2639G>C (p.Gly880Ala)
c.2414G>C (p.Gly805Ala)
c.3509G>C (p.Gly1170Ala)
c.1482G>C
c.*805G>C (n.*805G>C)
n.4448G>C
n.3049G>C
c.3560G>C (p.Gly1187Ala)
c.3608G>C (p.Gly1203Ala)
c.3668G>C (p.Gly1223Ala)
c.3218G>C (p.Gly1073Ala)
c.1520G>C (p.Gly507Ala)
c.1337G>C (p.Gly446Ala)
c.3569G>C (p.Gly1190Ala)
c.3521G>C (p.Gly1174Ala)
c.3290G>C (p.Gly1097Ala)
c.3191G>C (p.Gly1064Ala)
c.2372G>C (p.Gly791Ala)
n.3923G>C
13g.51937675C>TCA388022657ATP7Bc.*1354G>A (n.*1354G>A)
c.*2448G>A (n.*2448G>A)
c.3083G>A (p.Gly1028Asp)
c.3704G>A (p.Gly1235Asp)
c.3371G>A (p.Gly1124Asp)
c.3452G>A (p.Gly1151Asp)
n.945G>A
c.3470G>A (p.Gly1157Asp)
n.3843G>A
n.570G>A
c.2639G>A (p.Gly880Asp)
c.2414G>A (p.Gly805Asp)
c.3509G>A (p.Gly1170Asp)
c.1482G>A
c.*805G>A (n.*805G>A)
n.4448G>A
n.3049G>A
c.3560G>A (p.Gly1187Asp)
c.3608G>A (p.Gly1203Asp)
c.3668G>A (p.Gly1223Asp)
c.3218G>A (p.Gly1073Asp)
c.1520G>A (p.Gly507Asp)
c.1337G>A (p.Gly446Asp)
c.3569G>A (p.Gly1190Asp)
c.3521G>A (p.Gly1174Asp)
c.3290G>A (p.Gly1097Asp)
c.3191G>A (p.Gly1064Asp)
c.2372G>A (p.Gly791Asp)
n.3923G>A
 ClinVar dbSNP gnomAD v4
13g.51937676C>ACA388022658ATP7Bc.*1353G>T (n.*1353G>T)
c.*2447G>T (n.*2447G>T)
c.3082G>T (p.Gly1028Cys)
c.3703G>T (p.Gly1235Cys)
c.3370G>T (p.Gly1124Cys)
c.3451G>T (p.Gly1151Cys)
n.944G>T
c.3469G>T (p.Gly1157Cys)
n.3842G>T
n.569G>T
c.2638G>T (p.Gly880Cys)
c.2413G>T (p.Gly805Cys)
c.3508G>T (p.Gly1170Cys)
c.1481G>T
c.*804G>T (n.*804G>T)
n.4447G>T
n.3048G>T
c.3559G>T (p.Gly1187Cys)
c.3607G>T (p.Gly1203Cys)
c.3667G>T (p.Gly1223Cys)
c.3217G>T (p.Gly1073Cys)
c.1519G>T (p.Gly507Cys)
c.1336G>T (p.Gly446Cys)
c.3568G>T (p.Gly1190Cys)
c.3520G>T (p.Gly1174Cys)
c.3289G>T (p.Gly1097Cys)
c.3190G>T (p.Gly1064Cys)
c.2371G>T (p.Gly791Cys)
n.3922G>T
13g.51937676C>GCA388022659ATP7Bc.*1353G>C (n.*1353G>C)
c.*2447G>C (n.*2447G>C)
c.3082G>C (p.Gly1028Arg)
c.3703G>C (p.Gly1235Arg)
c.3370G>C (p.Gly1124Arg)
c.3451G>C (p.Gly1151Arg)
n.944G>C
c.3469G>C (p.Gly1157Arg)
n.3842G>C
n.569G>C
c.2638G>C (p.Gly880Arg)
c.2413G>C (p.Gly805Arg)
c.3508G>C (p.Gly1170Arg)
c.1481G>C
c.*804G>C (n.*804G>C)
n.4447G>C
n.3048G>C
c.3559G>C (p.Gly1187Arg)
c.3607G>C (p.Gly1203Arg)
c.3667G>C (p.Gly1223Arg)
c.3217G>C (p.Gly1073Arg)
c.1519G>C (p.Gly507Arg)
c.1336G>C (p.Gly446Arg)
c.3568G>C (p.Gly1190Arg)
c.3520G>C (p.Gly1174Arg)
c.3289G>C (p.Gly1097Arg)
c.3190G>C (p.Gly1064Arg)
c.2371G>C (p.Gly791Arg)
n.3922G>C
13g.51937676C>TCA388022660ATP7Bc.*1353G>A (n.*1353G>A)
c.*2447G>A (n.*2447G>A)
c.3082G>A (p.Gly1028Ser)
c.3703G>A (p.Gly1235Ser)
c.3370G>A (p.Gly1124Ser)
c.3451G>A (p.Gly1151Ser)
n.944G>A
c.3469G>A (p.Gly1157Ser)
n.3842G>A
n.569G>A
c.2638G>A (p.Gly880Ser)
c.2413G>A (p.Gly805Ser)
c.3508G>A (p.Gly1170Ser)
c.1481G>A
c.*804G>A (n.*804G>A)
n.4447G>A
n.3048G>A
c.3559G>A (p.Gly1187Ser)
c.3607G>A (p.Gly1203Ser)
c.3667G>A (p.Gly1223Ser)
c.3217G>A (p.Gly1073Ser)
c.1519G>A (p.Gly507Ser)
c.1336G>A (p.Gly446Ser)
c.3568G>A (p.Gly1190Ser)
c.3520G>A (p.Gly1174Ser)
c.3289G>A (p.Gly1097Ser)
c.3190G>A (p.Gly1064Ser)
c.2371G>A (p.Gly791Ser)
n.3922G>A
13g.51937677A>CCA484024804ATP7Bc.*1352T>G (n.*1352T>G)
c.*2446T>G (n.*2446T>G)
c.3081T>G (p.Val1027=)
c.3702T>G (p.Val1234=)
c.3369T>G (p.Val1123=)
c.3450T>G (p.Val1150=)
n.943T>G
c.3468T>G (p.Val1156=)
n.3841T>G
n.568T>G
c.2637T>G (p.Val879=)
c.2412T>G (p.Val804=)
c.3507T>G (p.Val1169=)
c.1480T>G
c.*803T>G (n.*803T>G)
n.4446T>G
n.3047T>G
c.3558T>G (p.Val1186=)
c.3606T>G (p.Val1202=)
c.3666T>G (p.Val1222=)
c.3216T>G (p.Val1072=)
c.1518T>G (p.Val506=)
c.1335T>G (p.Val445=)
c.3567T>G (p.Val1189=)
c.3519T>G (p.Val1173=)
c.3288T>G (p.Val1096=)
c.3189T>G (p.Val1063=)
c.2370T>G (p.Val790=)
n.3921T>G
13g.51937677A>GCA484024806ATP7Bc.*1352T>C (n.*1352T>C)
c.*2446T>C (n.*2446T>C)
c.3081T>C (p.Val1027=)
c.3702T>C (p.Val1234=)
c.3369T>C (p.Val1123=)
c.3450T>C (p.Val1150=)
n.943T>C
c.3468T>C (p.Val1156=)
n.3841T>C
n.568T>C
c.2637T>C (p.Val879=)
c.2412T>C (p.Val804=)
c.3507T>C (p.Val1169=)
c.1480T>C
c.*803T>C (n.*803T>C)
n.4446T>C
n.3047T>C
c.3558T>C (p.Val1186=)
c.3606T>C (p.Val1202=)
c.3666T>C (p.Val1222=)
c.3216T>C (p.Val1072=)
c.1518T>C (p.Val506=)
c.1335T>C (p.Val445=)
c.3567T>C (p.Val1189=)
c.3519T>C (p.Val1173=)
c.3288T>C (p.Val1096=)
c.3189T>C (p.Val1063=)
c.2370T>C (p.Val790=)
n.3921T>C
13g.51937677A>TCA484024809ATP7Bc.*1352T>A (n.*1352T>A)
c.*2446T>A (n.*2446T>A)
c.3081T>A (p.Val1027=)
c.3702T>A (p.Val1234=)
c.3369T>A (p.Val1123=)
c.3450T>A (p.Val1150=)
n.943T>A
c.3468T>A (p.Val1156=)
n.3841T>A
n.568T>A
c.2637T>A (p.Val879=)
c.2412T>A (p.Val804=)
c.3507T>A (p.Val1169=)
c.1480T>A
c.*803T>A (n.*803T>A)
n.4446T>A
n.3047T>A
c.3558T>A (p.Val1186=)
c.3606T>A (p.Val1202=)
c.3666T>A (p.Val1222=)
c.3216T>A (p.Val1072=)
c.1518T>A (p.Val506=)
c.1335T>A (p.Val445=)
c.3567T>A (p.Val1189=)
c.3519T>A (p.Val1173=)
c.3288T>A (p.Val1096=)
c.3189T>A (p.Val1063=)
c.2370T>A (p.Val790=)
n.3921T>A
13g.51937678A=CA2091554338ATP7Bc.*1351T= (n.*1351T=)
c.*2445T= (n.*2445T=)
c.3080T= (p.Val1027=)
c.3701T= (p.Val1234=)
c.3368T= (p.Val1123=)
c.3449T= (p.Val1150=)
n.942T=
c.3467T= (p.Val1156=)
n.3840T=
n.567T=
c.2636T= (p.Val879=)
c.2411T= (p.Val804=)
c.3506T= (p.Val1169=)
c.1479T=
c.*802T= (n.*802T=)
n.4445T=
n.3046T=
c.3557T= (p.Val1186=)
c.3605T= (p.Val1202=)
c.3665T= (p.Val1222=)
c.3215T= (p.Val1072=)
c.1517T= (p.Val506=)
c.1334T= (p.Val445=)
c.3566T= (p.Val1189=)
c.3518T= (p.Val1173=)
c.3287T= (p.Val1096=)
c.3188T= (p.Val1063=)
c.2369T= (p.Val790=)
n.3920T=
13g.51937678A>CCA388022665ATP7Bc.*1351T>G (n.*1351T>G)
c.*2445T>G (n.*2445T>G)
c.3080T>G (p.Val1027Gly)
c.3701T>G (p.Val1234Gly)
c.3368T>G (p.Val1123Gly)
c.3449T>G (p.Val1150Gly)
n.942T>G
c.3467T>G (p.Val1156Gly)
n.3840T>G
n.567T>G
c.2636T>G (p.Val879Gly)
c.2411T>G (p.Val804Gly)
c.3506T>G (p.Val1169Gly)
c.1479T>G
c.*802T>G (n.*802T>G)
n.4445T>G
n.3046T>G
c.3557T>G (p.Val1186Gly)
c.3605T>G (p.Val1202Gly)
c.3665T>G (p.Val1222Gly)
c.3215T>G (p.Val1072Gly)
c.1517T>G (p.Val506Gly)
c.1334T>G (p.Val445Gly)
c.3566T>G (p.Val1189Gly)
c.3518T>G (p.Val1173Gly)
c.3287T>G (p.Val1096Gly)
c.3188T>G (p.Val1063Gly)
c.2369T>G (p.Val790Gly)
n.3920T>G
 dbSNP gnomAD v2 gnomAD v4
13g.51937678A>GCA6988582ATP7Bc.*1351T>C (n.*1351T>C)
c.*2445T>C (n.*2445T>C)
c.3080T>C (p.Val1027Ala)
c.3701T>C (p.Val1234Ala)
c.3368T>C (p.Val1123Ala)
c.3449T>C (p.Val1150Ala)
n.942T>C
c.3467T>C (p.Val1156Ala)
n.3840T>C
n.567T>C
c.2636T>C (p.Val879Ala)
c.2411T>C (p.Val804Ala)
c.3506T>C (p.Val1169Ala)
c.1479T>C
c.*802T>C (n.*802T>C)
n.4445T>C
n.3046T>C
c.3557T>C (p.Val1186Ala)
c.3605T>C (p.Val1202Ala)
c.3665T>C (p.Val1222Ala)
c.3215T>C (p.Val1072Ala)
c.1517T>C (p.Val506Ala)
c.1334T>C (p.Val445Ala)
c.3566T>C (p.Val1189Ala)
c.3518T>C (p.Val1173Ala)
c.3287T>C (p.Val1096Ala)
c.3188T>C (p.Val1063Ala)
c.2369T>C (p.Val790Ala)
n.3920T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.51937678A>TCA388022663ATP7Bc.*1351T>A (n.*1351T>A)
c.*2445T>A (n.*2445T>A)
c.3080T>A (p.Val1027Asp)
c.3701T>A (p.Val1234Asp)
c.3368T>A (p.Val1123Asp)
c.3449T>A (p.Val1150Asp)
n.942T>A
c.3467T>A (p.Val1156Asp)
n.3840T>A
n.567T>A
c.2636T>A (p.Val879Asp)
c.2411T>A (p.Val804Asp)
c.3506T>A (p.Val1169Asp)
c.1479T>A
c.*802T>A (n.*802T>A)
n.4445T>A
n.3046T>A
c.3557T>A (p.Val1186Asp)
c.3605T>A (p.Val1202Asp)
c.3665T>A (p.Val1222Asp)
c.3215T>A (p.Val1072Asp)
c.1517T>A (p.Val506Asp)
c.1334T>A (p.Val445Asp)
c.3566T>A (p.Val1189Asp)
c.3518T>A (p.Val1173Asp)
c.3287T>A (p.Val1096Asp)
c.3188T>A (p.Val1063Asp)
c.2369T>A (p.Val790Asp)
n.3920T>A
13g.51937678_51937679delinsACCA2091554342ATP7Bc.*1350_*1351delinsGT (n.*1350_*1351delinsGT)
c.*2444_*2445delinsGT (n.*2444_*2445delinsGT)
c.3079_3080delinsGT (p.Val1027=)
c.3700_3701delinsGT (p.Val1234=)
c.3367_3368delinsGT (p.Val1123=)
c.3448_3449delinsGT (p.Val1150=)
n.941_942delinsGT
c.3466_3467delinsGT (p.Val1156=)
n.3839_3840delinsGT
n.566_567delinsGT
c.2635_2636delinsGT (p.Val879=)
c.2410_2411delinsGT (p.Val804=)
c.3505_3506delinsGT (p.Val1169=)
c.1478_1479delinsGT
c.*801_*802delinsGT (n.*801_*802delinsGT)
n.4444_4445delinsGT
n.3045_3046delinsGT
c.3556_3557delinsGT (p.Val1186=)
c.3604_3605delinsGT (p.Val1202=)
c.3664_3665delinsGT (p.Val1222=)
c.3214_3215delinsGT (p.Val1072=)
c.1516_1517delinsGT (p.Val506=)
c.1333_1334delinsGT (p.Val445=)
c.3565_3566delinsGT (p.Val1189=)
c.3517_3518delinsGT (p.Val1173=)
c.3286_3287delinsGT (p.Val1096=)
c.3187_3188delinsGT (p.Val1063=)
c.2368_2369delinsGT (p.Val790=)
n.3919_3920delinsGT
13g.51937679C>ACA260146ATP7Bc.*1350G>T (n.*1350G>T)
c.*2444G>T (n.*2444G>T)
c.3079G>T (p.Val1027Phe)
c.3700G>T (p.Val1234Phe)
c.3367G>T (p.Val1123Phe)
c.3448G>T (p.Val1150Phe)
n.941G>T
c.3466G>T (p.Val1156Phe)
n.3839G>T
n.566G>T
c.2635G>T (p.Val879Phe)
c.2410G>T (p.Val804Phe)
c.3505G>T (p.Val1169Phe)
c.1478G>T
c.*801G>T (n.*801G>T)
n.4444G>T
n.3045G>T
c.3556G>T (p.Val1186Phe)
c.3604G>T (p.Val1202Phe)
c.3664G>T (p.Val1222Phe)
c.3214G>T (p.Val1072Phe)
c.1516G>T (p.Val506Phe)
c.1333G>T (p.Val445Phe)
c.3565G>T (p.Val1189Phe)
c.3517G>T (p.Val1173Phe)
c.3286G>T (p.Val1096Phe)
c.3187G>T (p.Val1063Phe)
c.2368G>T (p.Val790Phe)
n.3919G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.51937679C=CA2091554353ATP7Bc.*1350G= (n.*1350G=)
c.*2444G= (n.*2444G=)
c.3079G= (p.Val1027=)
c.3700G= (p.Val1234=)
c.3367G= (p.Val1123=)
c.3448G= (p.Val1150=)
n.941G=
c.3466G= (p.Val1156=)
n.3839G=
n.566G=
c.2635G= (p.Val879=)
c.2410G= (p.Val804=)
c.3505G= (p.Val1169=)
c.1478G=
c.*801G= (n.*801G=)
n.4444G=
n.3045G=
c.3556G= (p.Val1186=)
c.3604G= (p.Val1202=)
c.3664G= (p.Val1222=)
c.3214G= (p.Val1072=)
c.1516G= (p.Val506=)
c.1333G= (p.Val445=)
c.3565G= (p.Val1189=)
c.3517G= (p.Val1173=)
c.3286G= (p.Val1096=)
c.3187G= (p.Val1063=)
c.2368G= (p.Val790=)
n.3919G=
13g.51937679C>GCA388022670ATP7Bc.*1350G>C (n.*1350G>C)
c.*2444G>C (n.*2444G>C)
c.3079G>C (p.Val1027Leu)
c.3700G>C (p.Val1234Leu)
c.3367G>C (p.Val1123Leu)
c.3448G>C (p.Val1150Leu)
n.941G>C
c.3466G>C (p.Val1156Leu)
n.3839G>C
n.566G>C
c.2635G>C (p.Val879Leu)
c.2410G>C (p.Val804Leu)
c.3505G>C (p.Val1169Leu)
c.1478G>C
c.*801G>C (n.*801G>C)
n.4444G>C
n.3045G>C
c.3556G>C (p.Val1186Leu)
c.3604G>C (p.Val1202Leu)
c.3664G>C (p.Val1222Leu)
c.3214G>C (p.Val1072Leu)
c.1516G>C (p.Val506Leu)
c.1333G>C (p.Val445Leu)
c.3565G>C (p.Val1189Leu)
c.3517G>C (p.Val1173Leu)
c.3286G>C (p.Val1096Leu)
c.3187G>C (p.Val1063Leu)
c.2368G>C (p.Val790Leu)
n.3919G>C
 gnomAD v4
13g.51937679C>TCA388022671ATP7Bc.*1350G>A (n.*1350G>A)
c.*2444G>A (n.*2444G>A)
c.3079G>A (p.Val1027Ile)
c.3700G>A (p.Val1234Ile)
c.3367G>A (p.Val1123Ile)
c.3448G>A (p.Val1150Ile)
n.941G>A
c.3466G>A (p.Val1156Ile)
n.3839G>A
n.566G>A
c.2635G>A (p.Val879Ile)
c.2410G>A (p.Val804Ile)
c.3505G>A (p.Val1169Ile)
c.1478G>A
c.*801G>A (n.*801G>A)
n.4444G>A
n.3045G>A
c.3556G>A (p.Val1186Ile)
c.3604G>A (p.Val1202Ile)
c.3664G>A (p.Val1222Ile)
c.3214G>A (p.Val1072Ile)
c.1516G>A (p.Val506Ile)
c.1333G>A (p.Val445Ile)
c.3565G>A (p.Val1189Ile)
c.3517G>A (p.Val1173Ile)
c.3286G>A (p.Val1096Ile)
c.3187G>A (p.Val1063Ile)
c.2368G>A (p.Val790Ile)
n.3919G>A
 dbSNP
13g.51937680delCA1139663299ATP7Bc.*1350del
c.*2444del
c.3079del
c.3700del
c.3367del
c.3448del
n.941del
c.3466del
n.3839del
n.566del
c.2635del
c.2410del
c.3505del
c.1478del
c.*801del
n.4444del
n.3045del
c.3556del
c.3604del
c.3664del
c.3214del
c.1516del
c.1333del
c.3565del
c.3517del
c.3286del
c.3187del
c.2368del
n.3919del
 ClinVar dbSNP
13g.51937680C>ACA388022672ATP7Bc.*1350-1G>T (n.*1350-1G>T)
c.*2444-1G>T (n.*2444-1G>T)
c.3079-1G>T (n.3079-1G>T)
c.3700-1G>T (n.3700-1G>T)
c.3367-1G>T (n.3367-1G>T)
c.3448-1G>T (n.3448-1G>T)
n.941-1G>T
c.3466-1G>T (n.3466-1G>T)
n.3839-1G>T
n.566-1G>T
c.2635-1G>T (n.2635-1G>T)
c.2410-1G>T (n.2410-1G>T)
c.3505-1G>T (n.3505-1G>T)
c.1478-1G>T
c.*801-1G>T (n.*801-1G>T)
n.4444-1G>T
n.3045-1G>T
c.3556-1G>T (n.3556-1G>T)
c.3604-1G>T (n.3604-1G>T)
c.3664-1G>T (n.3664-1G>T)
c.3214-1G>T (n.3214-1G>T)
c.1516-1G>T (n.1516-1G>T)
c.1333-1G>T (n.1333-1G>T)
c.3565-1G>T (n.3565-1G>T)
c.3517-1G>T (n.3517-1G>T)
c.3286-1G>T (n.3286-1G>T)
c.3187-1G>T (n.3187-1G>T)
c.2368-1G>T (n.2368-1G>T)
n.3919-1G>T
13g.51937680C=CA2091554365ATP7Bc.*1350-1G= (n.*1350-1G=)
c.*2444-1G= (n.*2444-1G=)
c.3079-1G= (n.3079-1G=)
c.3700-1G= (n.3700-1G=)
c.3367-1G= (n.3367-1G=)
c.3448-1G= (n.3448-1G=)
n.941-1G=
c.3466-1G= (n.3466-1G=)
n.3839-1G=
n.566-1G=
c.2635-1G= (n.2635-1G=)
c.2410-1G= (n.2410-1G=)
c.3505-1G= (n.3505-1G=)
c.1478-1G=
c.*801-1G= (n.*801-1G=)
n.4444-1G=
n.3045-1G=
c.3556-1G= (n.3556-1G=)
c.3604-1G= (n.3604-1G=)
c.3664-1G= (n.3664-1G=)
c.3214-1G= (n.3214-1G=)
c.1516-1G= (n.1516-1G=)
c.1333-1G= (n.1333-1G=)
c.3565-1G= (n.3565-1G=)
c.3517-1G= (n.3517-1G=)
c.3286-1G= (n.3286-1G=)
c.3187-1G= (n.3187-1G=)
c.2368-1G= (n.2368-1G=)
n.3919-1G=
13g.51937680C>GCA388022673ATP7Bc.*1350-1G>C (n.*1350-1G>C)
c.*2444-1G>C (n.*2444-1G>C)
c.3079-1G>C (n.3079-1G>C)
c.3700-1G>C (n.3700-1G>C)
c.3367-1G>C (n.3367-1G>C)
c.3448-1G>C (n.3448-1G>C)
n.941-1G>C
c.3466-1G>C (n.3466-1G>C)
n.3839-1G>C
n.566-1G>C
c.2635-1G>C (n.2635-1G>C)
c.2410-1G>C (n.2410-1G>C)
c.3505-1G>C (n.3505-1G>C)
c.1478-1G>C
c.*801-1G>C (n.*801-1G>C)
n.4444-1G>C
n.3045-1G>C
c.3556-1G>C (n.3556-1G>C)
c.3604-1G>C (n.3604-1G>C)
c.3664-1G>C (n.3664-1G>C)
c.3214-1G>C (n.3214-1G>C)
c.1516-1G>C (n.1516-1G>C)
c.1333-1G>C (n.1333-1G>C)
c.3565-1G>C (n.3565-1G>C)
c.3517-1G>C (n.3517-1G>C)
c.3286-1G>C (n.3286-1G>C)
c.3187-1G>C (n.3187-1G>C)
c.2368-1G>C (n.2368-1G>C)
n.3919-1G>C
13g.51937680C>TCA388022674ATP7Bc.*1350-1G>A (n.*1350-1G>A)
c.*2444-1G>A (n.*2444-1G>A)
c.3079-1G>A (n.3079-1G>A)
c.3700-1G>A (n.3700-1G>A)
c.3367-1G>A (n.3367-1G>A)
c.3448-1G>A (n.3448-1G>A)
n.941-1G>A
c.3466-1G>A (n.3466-1G>A)
n.3839-1G>A
n.566-1G>A
c.2635-1G>A (n.2635-1G>A)
c.2410-1G>A (n.2410-1G>A)
c.3505-1G>A (n.3505-1G>A)
c.1478-1G>A
c.*801-1G>A (n.*801-1G>A)
n.4444-1G>A
n.3045-1G>A
c.3556-1G>A (n.3556-1G>A)
c.3604-1G>A (n.3604-1G>A)
c.3664-1G>A (n.3664-1G>A)
c.3214-1G>A (n.3214-1G>A)
c.1516-1G>A (n.1516-1G>A)
c.1333-1G>A (n.1333-1G>A)
c.3565-1G>A (n.3565-1G>A)
c.3517-1G>A (n.3517-1G>A)
c.3286-1G>A (n.3286-1G>A)
c.3187-1G>A (n.3187-1G>A)
c.2368-1G>A (n.2368-1G>A)
n.3919-1G>A
 ClinVar dbSNP
13g.51937681T>ACA388022675ATP7Bc.*1350-2A>T (n.*1350-2A>T)
c.*2444-2A>T (n.*2444-2A>T)
c.3079-2A>T (n.3079-2A>T)
c.3700-2A>T (n.3700-2A>T)
c.3367-2A>T (n.3367-2A>T)
c.3448-2A>T (n.3448-2A>T)
n.941-2A>T
c.3466-2A>T (n.3466-2A>T)
n.3839-2A>T
n.566-2A>T
c.2635-2A>T (n.2635-2A>T)
c.2410-2A>T (n.2410-2A>T)
c.3505-2A>T (n.3505-2A>T)
c.1478-2A>T
c.*801-2A>T (n.*801-2A>T)
n.4444-2A>T
n.3045-2A>T
c.3556-2A>T (n.3556-2A>T)
c.3604-2A>T (n.3604-2A>T)
c.3664-2A>T (n.3664-2A>T)
c.3214-2A>T (n.3214-2A>T)
c.1516-2A>T (n.1516-2A>T)
c.1333-2A>T (n.1333-2A>T)
c.3565-2A>T (n.3565-2A>T)
c.3517-2A>T (n.3517-2A>T)
c.3286-2A>T (n.3286-2A>T)
c.3187-2A>T (n.3187-2A>T)
c.2368-2A>T (n.2368-2A>T)
n.3919-2A>T
13g.51937681T>CCA388022678ATP7Bc.*1350-2A>G (n.*1350-2A>G)
c.*2444-2A>G (n.*2444-2A>G)
c.3079-2A>G (n.3079-2A>G)
c.3700-2A>G (n.3700-2A>G)
c.3367-2A>G (n.3367-2A>G)
c.3448-2A>G (n.3448-2A>G)
n.941-2A>G
c.3466-2A>G (n.3466-2A>G)
n.3839-2A>G
n.566-2A>G
c.2635-2A>G (n.2635-2A>G)
c.2410-2A>G (n.2410-2A>G)
c.3505-2A>G (n.3505-2A>G)
c.1478-2A>G
c.*801-2A>G (n.*801-2A>G)
n.4444-2A>G
n.3045-2A>G
c.3556-2A>G (n.3556-2A>G)
c.3604-2A>G (n.3604-2A>G)
c.3664-2A>G (n.3664-2A>G)
c.3214-2A>G (n.3214-2A>G)
c.1516-2A>G (n.1516-2A>G)
c.1333-2A>G (n.1333-2A>G)
c.3565-2A>G (n.3565-2A>G)
c.3517-2A>G (n.3517-2A>G)
c.3286-2A>G (n.3286-2A>G)
c.3187-2A>G (n.3187-2A>G)
c.2368-2A>G (n.2368-2A>G)
n.3919-2A>G
13g.51937681T>GCA388022677ATP7Bc.*1350-2A>C (n.*1350-2A>C)
c.*2444-2A>C (n.*2444-2A>C)
c.3079-2A>C (n.3079-2A>C)
c.3700-2A>C (n.3700-2A>C)
c.3367-2A>C (n.3367-2A>C)
c.3448-2A>C (n.3448-2A>C)
n.941-2A>C
c.3466-2A>C (n.3466-2A>C)
n.3839-2A>C
n.566-2A>C
c.2635-2A>C (n.2635-2A>C)
c.2410-2A>C (n.2410-2A>C)
c.3505-2A>C (n.3505-2A>C)
c.1478-2A>C
c.*801-2A>C (n.*801-2A>C)
n.4444-2A>C
n.3045-2A>C
c.3556-2A>C (n.3556-2A>C)
c.3604-2A>C (n.3604-2A>C)
c.3664-2A>C (n.3664-2A>C)
c.3214-2A>C (n.3214-2A>C)
c.1516-2A>C (n.1516-2A>C)
c.1333-2A>C (n.1333-2A>C)
c.3565-2A>C (n.3565-2A>C)
c.3517-2A>C (n.3517-2A>C)
c.3286-2A>C (n.3286-2A>C)
c.3187-2A>C (n.3187-2A>C)
c.2368-2A>C (n.2368-2A>C)
n.3919-2A>C
13g.51937682A>CCA2580087719ATP7Bc.*1350-3T>G (n.*1350-3T>G)
c.*2444-3T>G (n.*2444-3T>G)
c.3079-3T>G (n.3079-3T>G)
c.3700-3T>G (n.3700-3T>G)
c.3367-3T>G (n.3367-3T>G)
c.3448-3T>G (n.3448-3T>G)
n.941-3T>G
c.3466-3T>G (n.3466-3T>G)
n.3839-3T>G
n.566-3T>G
c.2635-3T>G (n.2635-3T>G)
c.2410-3T>G (n.2410-3T>G)
c.3505-3T>G (n.3505-3T>G)
c.1478-3T>G
c.*801-3T>G (n.*801-3T>G)
n.4444-3T>G
n.3045-3T>G
c.3556-3T>G (n.3556-3T>G)
c.3604-3T>G (n.3604-3T>G)
c.3664-3T>G (n.3664-3T>G)
c.3214-3T>G (n.3214-3T>G)
c.1516-3T>G (n.1516-3T>G)
c.1333-3T>G (n.1333-3T>G)
c.3565-3T>G (n.3565-3T>G)
c.3517-3T>G (n.3517-3T>G)
c.3286-3T>G (n.3286-3T>G)
c.3187-3T>G (n.3187-3T>G)
c.2368-3T>G (n.2368-3T>G)
n.3919-3T>G
 ClinVar dbSNP gnomAD v4
13g.51937682A>GCA2623119405ATP7Bc.*1350-3T>C (n.*1350-3T>C)
c.*2444-3T>C (n.*2444-3T>C)
c.3079-3T>C (n.3079-3T>C)
c.3700-3T>C (n.3700-3T>C)
c.3367-3T>C (n.3367-3T>C)
c.3448-3T>C (n.3448-3T>C)
n.941-3T>C
c.3466-3T>C (n.3466-3T>C)
n.3839-3T>C
n.566-3T>C
c.2635-3T>C (n.2635-3T>C)
c.2410-3T>C (n.2410-3T>C)
c.3505-3T>C (n.3505-3T>C)
c.1478-3T>C
c.*801-3T>C (n.*801-3T>C)
n.4444-3T>C
n.3045-3T>C
c.3556-3T>C (n.3556-3T>C)
c.3604-3T>C (n.3604-3T>C)
c.3664-3T>C (n.3664-3T>C)
c.3214-3T>C (n.3214-3T>C)
c.1516-3T>C (n.1516-3T>C)
c.1333-3T>C (n.1333-3T>C)
c.3565-3T>C (n.3565-3T>C)
c.3517-3T>C (n.3517-3T>C)
c.3286-3T>C (n.3286-3T>C)
c.3187-3T>C (n.3187-3T>C)
c.2368-3T>C (n.2368-3T>C)
n.3919-3T>C
 ClinVar gnomAD v4
13g.51937683A=CA2091554368ATP7Bc.*1350-4T= (n.*1350-4T=)
c.*2444-4T= (n.*2444-4T=)
c.3079-4T= (n.3079-4T=)
c.3700-4T= (n.3700-4T=)
c.3367-4T= (n.3367-4T=)
c.3448-4T= (n.3448-4T=)
n.941-4T=
c.3466-4T= (n.3466-4T=)
n.3839-4T=
n.566-4T=
c.2635-4T= (n.2635-4T=)
c.2410-4T= (n.2410-4T=)
c.3505-4T= (n.3505-4T=)
c.1478-4T=
c.*801-4T= (n.*801-4T=)
n.4444-4T=
n.3045-4T=
c.3556-4T= (n.3556-4T=)
c.3604-4T= (n.3604-4T=)
c.3664-4T= (n.3664-4T=)
c.3214-4T= (n.3214-4T=)
c.1516-4T= (n.1516-4T=)
c.1333-4T= (n.1333-4T=)
c.3565-4T= (n.3565-4T=)
c.3517-4T= (n.3517-4T=)
c.3286-4T= (n.3286-4T=)
c.3187-4T= (n.3187-4T=)
c.2368-4T= (n.2368-4T=)
n.3919-4T=
13g.51937683A>TCA6988583ATP7Bc.*1350-4T>A (n.*1350-4T>A)
c.*2444-4T>A (n.*2444-4T>A)
c.3079-4T>A (n.3079-4T>A)
c.3700-4T>A (n.3700-4T>A)
c.3367-4T>A (n.3367-4T>A)
c.3448-4T>A (n.3448-4T>A)
n.941-4T>A
c.3466-4T>A (n.3466-4T>A)
n.3839-4T>A
n.566-4T>A
c.2635-4T>A (n.2635-4T>A)
c.2410-4T>A (n.2410-4T>A)
c.3505-4T>A (n.3505-4T>A)
c.1478-4T>A
c.*801-4T>A (n.*801-4T>A)
n.4444-4T>A
n.3045-4T>A
c.3556-4T>A (n.3556-4T>A)
c.3604-4T>A (n.3604-4T>A)
c.3664-4T>A (n.3664-4T>A)
c.3214-4T>A (n.3214-4T>A)
c.1516-4T>A (n.1516-4T>A)
c.1333-4T>A (n.1333-4T>A)
c.3565-4T>A (n.3565-4T>A)
c.3517-4T>A (n.3517-4T>A)
c.3286-4T>A (n.3286-4T>A)
c.3187-4T>A (n.3187-4T>A)
c.2368-4T>A (n.2368-4T>A)
n.3919-4T>A
 dbSNP ExAC gnomAD v2

Number of alleles fetched