| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937580_51937589del | CA2695218758 | ATP7B | c.*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 | |
| 13 | g.51937584_51937587dup | CA2695218759 | ATP7B | c.*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 | |
| 13 | g.51937583C>A | CA388022026 | ATP7B | c.*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 |
| 13 | g.51937583C= | CA2091554101 | ATP7B | c.*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= | |
| 13 | g.51937583C>G | CA388022028 | ATP7B | c.*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 | |
| 13 | g.51937583C>T | CA252890 | ATP7B | c.*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 |
| 13 | g.51937584C>A | CA484024342 | ATP7B | c.*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 |
| 13 | g.51937584C= | CA2091554105 | ATP7B | c.*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= | |
| 13 | g.51937584C>G | CA484024343 | ATP7B | c.*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 | |
| 13 | g.51937584C>T | CA484024344 | ATP7B | c.*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 | dbSNP gnomAD v4 |
| 13 | g.51937585A>C | CA388022033 | ATP7B | c.*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 | |
| 13 | g.51937585A>G | CA388022035 | ATP7B | c.*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 | |
| 13 | g.51937585A>T | CA388022042 | ATP7B | c.*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 | |
| 13 | g.51937586C>A | CA388022049 | ATP7B | c.*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 |
| 13 | g.51937586C= | CA2091554106 | ATP7B | c.*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= | |
| 13 | g.51937586C>G | CA388022044 | ATP7B | c.*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 | |
| 13 | g.51937586C>T | CA388022048 | ATP7B | c.*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 | |
| 13 | g.51937587C>A | CA388022050 | ATP7B | c.*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 | |
| 13 | g.51937587C>G | CA388022053 | ATP7B | c.*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 | |
| 13 | g.51937587C>T | CA388022054 | ATP7B | c.*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 | |
| 13 | g.51937588A>C | CA388022056 | ATP7B | c.*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 | |
| 13 | g.51937588A>G | CA388022057 | ATP7B | c.*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 | |
| 13 | g.51937588A>T | CA388022059 | ATP7B | c.*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 | |
| 13 | g.51937588_51937597del | CA2580087712 | ATP7B | c.*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 |
| 13 | g.51937589T>A | CA388022062 | ATP7B | c.*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 |
| 13 | g.51937589T>C | CA388022065 | ATP7B | c.*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 |
| 13 | g.51937589T>G | CA388022067 | ATP7B | c.*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 | |
| 13 | g.51937589T= | CA2091554110 | ATP7B | c.*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= | |
| 13 | g.51937590G>A | CA250073700 | ATP7B | c.*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 |
| 13 | g.51937590G>C | CA484024345 | ATP7B | c.*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 | |
| 13 | g.51937590G= | CA2091554113 | ATP7B | c.*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= | |
| 13 | g.51937590G>T | CA484024346 | ATP7B | c.*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 | |
| 13 | g.51937591G>A | CA388022069 | ATP7B | c.*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 | |
| 13 | g.51937591G>C | CA388022070 | ATP7B | c.*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 | |
| 13 | g.51937591G>T | CA388022074 | ATP7B | c.*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 | |
| 13 | g.51937591_51937592delinsGC | CA2091554114 | ATP7B | c.*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 | |
| 13 | g.51937592del | CA6988566 | ATP7B | c.*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 |
| 13 | g.51937592C>A | CA388022075 | ATP7B | c.*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 |
| 13 | g.51937592C= | CA2091554115 | ATP7B | c.*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= | |
| 13 | g.51937592C>G | CA388022076 | ATP7B | c.*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 | |
| 13 | g.51937592C>T | CA6988567 | ATP7B | c.*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 |
| 13 | g.51937593G>A | CA6988568 | ATP7B | c.*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 |
| 13 | g.51937593G>C | CA484024347 | ATP7B | c.*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 | |
| 13 | g.51937593G= | CA2091554116 | ATP7B | c.*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= | |
| 13 | g.51937593G>T | CA484024348 | ATP7B | c.*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 | |
| 13 | g.51937594A>C | CA388022081 | ATP7B | c.*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 | |
| 13 | g.51937594A>G | CA388022085 | ATP7B | c.*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 | |
| 13 | g.51937594A>T | CA388022083 | ATP7B | c.*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 | |
| 13 | g.51937595C>A | CA6988569 | ATP7B | c.*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 |
| 13 | g.51937595C= | CA2091554121 | ATP7B | c.*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= |