| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51935649_51935667dup | CA2695218717 | ATP7B | c.*1702_*1720dup (n.*1702_*1720dup) c.*2796_*2814dup (n.*2796_*2814dup) c.3431_3449dup (p.Met1152LeufsTer25) c.4052_4070dup (p.Met1359LeufsTer25) c.3719_3737dup (p.Met1248LeufsTer25) c.3800_3818dup (p.Met1275LeufsTer25) n.1375_1393dup c.3818_3836dup (p.Met1281LeufsTer25) n.4191_4209dup n.918_936dup c.2987_3005dup (p.Met1004LeufsTer25) c.2762_2780dup (p.Met929LeufsTer25) c.3857_3875dup (p.Met1294LeufsTer25) c.1830_1848dup c.*1153_*1171dup (n.*1153_*1171dup) n.4796_4814dup n.3397_3415dup c.3908_3926dup (p.Met1311LeufsTer25) c.3956_3974dup (p.Met1327LeufsTer25) c.4016_4034dup (p.Met1347LeufsTer25) c.3566_3584dup (p.Met1197LeufsTer25) c.1868_1886dup (p.Met631LeufsTer25) c.1685_1703dup (p.Met570LeufsTer25) c.3917_3935dup (p.Met1314LeufsTer25) c.3869_3887dup (p.Met1298LeufsTer25) c.3638_3656dup (p.Met1221LeufsTer25) c.3539_3557dup (p.Met1188LeufsTer25) c.2720_2738dup (p.Met915LeufsTer25) n.4271_4289dup | |
| 13 | g.51935663_51935673delinsAGATGGGCCCATCC | CA2695218725 | ATP7B | c.*1694_*1704delinsGGATGGGCCCATCT (n.*1694_*1704delinsGGATGGGCCCATCT) c.*2788_*2798delinsGGATGGGCCCATCT (n.*2788_*2798delinsGGATGGGCCCATCT) c.3423_3433delinsGGATGGGCCCATCT (p.Ile1141_Pro1145delinsMetAspGlyProIleSer) c.4044_4054delinsGGATGGGCCCATCT (p.Ile1348_Pro1352delinsMetAspGlyProIleSer) c.3711_3721delinsGGATGGGCCCATCT (p.Ile1237_Pro1241delinsMetAspGlyProIleSer) c.3792_3802delinsGGATGGGCCCATCT (p.Ile1264_Pro1268delinsMetAspGlyProIleSer) n.1367_1377delinsGGATGGGCCCATCT c.3810_3820delinsGGATGGGCCCATCT (p.Ile1270_Pro1274delinsMetAspGlyProIleSer) n.4183_4193delinsGGATGGGCCCATCT n.910_920delinsGGATGGGCCCATCT c.2979_2989delinsGGATGGGCCCATCT (p.Ile993_Pro997delinsMetAspGlyProIleSer) c.2754_2764delinsGGATGGGCCCATCT (p.Ile918_Pro922delinsMetAspGlyProIleSer) c.3849_3859delinsGGATGGGCCCATCT (p.Ile1283_Pro1287delinsMetAspGlyProIleSer) c.1822_1832delinsGGATGGGCCCATCT c.*1145_*1155delinsGGATGGGCCCATCT (n.*1145_*1155delinsGGATGGGCCCATCT) n.4788_4798delinsGGATGGGCCCATCT n.3389_3399delinsGGATGGGCCCATCT c.3900_3910delinsGGATGGGCCCATCT (p.Ile1300_Pro1304delinsMetAspGlyProIleSer) c.3948_3958delinsGGATGGGCCCATCT (p.Ile1316_Pro1320delinsMetAspGlyProIleSer) c.4008_4018delinsGGATGGGCCCATCT (p.Ile1336_Pro1340delinsMetAspGlyProIleSer) c.3558_3568delinsGGATGGGCCCATCT (p.Ile1186_Pro1190delinsMetAspGlyProIleSer) c.1860_1870delinsGGATGGGCCCATCT (p.Ile620_Pro624delinsMetAspGlyProIleSer) c.1677_1687delinsGGATGGGCCCATCT (p.Ile559_Pro563delinsMetAspGlyProIleSer) c.3909_3919delinsGGATGGGCCCATCT (p.Ile1303_Pro1307delinsMetAspGlyProIleSer) c.3861_3871delinsGGATGGGCCCATCT (p.Ile1287_Pro1291delinsMetAspGlyProIleSer) c.3630_3640delinsGGATGGGCCCATCT (p.Ile1210_Pro1214delinsMetAspGlyProIleSer) c.3531_3541delinsGGATGGGCCCATCT (p.Ile1177_Pro1181delinsMetAspGlyProIleSer) c.2712_2722delinsGGATGGGCCCATCT (p.Ile904_Pro908delinsMetAspGlyProIleSer) n.4263_4273delinsGGATGGGCCCATCT | |
| 13 | g.51935666G>A | CA274170 | ATP7B | c.*1701C>T (n.*1701C>T) c.*2795C>T (n.*2795C>T) c.3430C>T (p.Gln1144Ter) c.4051C>T (p.Gln1351Ter) c.3718C>T (p.Gln1240Ter) c.3799C>T (p.Gln1267Ter) n.1374C>T c.3817C>T (p.Gln1273Ter) n.4190C>T n.917C>T c.2986C>T (p.Gln996Ter) c.2761C>T (p.Gln921Ter) c.3856C>T (p.Gln1286Ter) c.1829C>T c.*1152C>T (n.*1152C>T) n.4795C>T n.3396C>T c.3907C>T (p.Gln1303Ter) c.3955C>T (p.Gln1319Ter) c.4015C>T (p.Gln1339Ter) c.3565C>T (p.Gln1189Ter) c.1867C>T (p.Gln623Ter) c.1684C>T (p.Gln562Ter) c.3916C>T (p.Gln1306Ter) c.3868C>T (p.Gln1290Ter) c.3637C>T (p.Gln1213Ter) c.3538C>T (p.Gln1180Ter) c.2719C>T (p.Gln907Ter) n.4270C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51935666G>C | CA388020208 | ATP7B | c.*1701C>G (n.*1701C>G) c.*2795C>G (n.*2795C>G) c.3430C>G (p.Gln1144Glu) c.4051C>G (p.Gln1351Glu) c.3718C>G (p.Gln1240Glu) c.3799C>G (p.Gln1267Glu) n.1374C>G c.3817C>G (p.Gln1273Glu) n.4190C>G n.917C>G c.2986C>G (p.Gln996Glu) c.2761C>G (p.Gln921Glu) c.3856C>G (p.Gln1286Glu) c.1829C>G c.*1152C>G (n.*1152C>G) n.4795C>G n.3396C>G c.3907C>G (p.Gln1303Glu) c.3955C>G (p.Gln1319Glu) c.4015C>G (p.Gln1339Glu) c.3565C>G (p.Gln1189Glu) c.1867C>G (p.Gln623Glu) c.1684C>G (p.Gln562Glu) c.3916C>G (p.Gln1306Glu) c.3868C>G (p.Gln1290Glu) c.3637C>G (p.Gln1213Glu) c.3538C>G (p.Gln1180Glu) c.2719C>G (p.Gln907Glu) n.4270C>G | |
| 13 | g.51935666G= | CA2091551383 | ATP7B | c.*1701C= (n.*1701C=) c.*2795C= (n.*2795C=) c.3430C= (p.Gln1144=) c.4051C= (p.Gln1351=) c.3718C= (p.Gln1240=) c.3799C= (p.Gln1267=) n.1374C= c.3817C= (p.Gln1273=) n.4190C= n.917C= c.2986C= (p.Gln996=) c.2761C= (p.Gln921=) c.3856C= (p.Gln1286=) c.1829C= c.*1152C= (n.*1152C=) n.4795C= n.3396C= c.3907C= (p.Gln1303=) c.3955C= (p.Gln1319=) c.4015C= (p.Gln1339=) c.3565C= (p.Gln1189=) c.1867C= (p.Gln623=) c.1684C= (p.Gln562=) c.3916C= (p.Gln1306=) c.3868C= (p.Gln1290=) c.3637C= (p.Gln1213=) c.3538C= (p.Gln1180=) c.2719C= (p.Gln907=) n.4270C= | |
| 13 | g.51935666G>T | CA388020210 | ATP7B | c.*1701C>A (n.*1701C>A) c.*2795C>A (n.*2795C>A) c.3430C>A (p.Gln1144Lys) c.4051C>A (p.Gln1351Lys) c.3718C>A (p.Gln1240Lys) c.3799C>A (p.Gln1267Lys) n.1374C>A c.3817C>A (p.Gln1273Lys) n.4190C>A n.917C>A c.2986C>A (p.Gln996Lys) c.2761C>A (p.Gln921Lys) c.3856C>A (p.Gln1286Lys) c.1829C>A c.*1152C>A (n.*1152C>A) n.4795C>A n.3396C>A c.3907C>A (p.Gln1303Lys) c.3955C>A (p.Gln1319Lys) c.4015C>A (p.Gln1339Lys) c.3565C>A (p.Gln1189Lys) c.1867C>A (p.Gln623Lys) c.1684C>A (p.Gln562Lys) c.3916C>A (p.Gln1306Lys) c.3868C>A (p.Gln1290Lys) c.3637C>A (p.Gln1213Lys) c.3538C>A (p.Gln1180Lys) c.2719C>A (p.Gln907Lys) n.4270C>A | |
| 13 | g.51935667C>A | CA483893088 | ATP7B | c.*1700G>T (n.*1700G>T) c.*2794G>T (n.*2794G>T) c.3429G>T (p.Leu1143=) c.4050G>T (p.Leu1350=) c.3717G>T (p.Leu1239=) c.3798G>T (p.Leu1266=) n.1373G>T c.3816G>T (p.Leu1272=) n.4189G>T n.916G>T c.2985G>T (p.Leu995=) c.2760G>T (p.Leu920=) c.3855G>T (p.Leu1285=) c.1828G>T c.*1151G>T (n.*1151G>T) n.4794G>T n.3395G>T c.3906G>T (p.Leu1302=) c.3954G>T (p.Leu1318=) c.4014G>T (p.Leu1338=) c.3564G>T (p.Leu1188=) c.1866G>T (p.Leu622=) c.1683G>T (p.Leu561=) c.3915G>T (p.Leu1305=) c.3867G>T (p.Leu1289=) c.3636G>T (p.Leu1212=) c.3537G>T (p.Leu1179=) c.2718G>T (p.Leu906=) n.4269G>T | |
| 13 | g.51935667C>G | CA483893091 | ATP7B | c.*1700G>C (n.*1700G>C) c.*2794G>C (n.*2794G>C) c.3429G>C (p.Leu1143=) c.4050G>C (p.Leu1350=) c.3717G>C (p.Leu1239=) c.3798G>C (p.Leu1266=) n.1373G>C c.3816G>C (p.Leu1272=) n.4189G>C n.916G>C c.2985G>C (p.Leu995=) c.2760G>C (p.Leu920=) c.3855G>C (p.Leu1285=) c.1828G>C c.*1151G>C (n.*1151G>C) n.4794G>C n.3395G>C c.3906G>C (p.Leu1302=) c.3954G>C (p.Leu1318=) c.4014G>C (p.Leu1338=) c.3564G>C (p.Leu1188=) c.1866G>C (p.Leu622=) c.1683G>C (p.Leu561=) c.3915G>C (p.Leu1305=) c.3867G>C (p.Leu1289=) c.3636G>C (p.Leu1212=) c.3537G>C (p.Leu1179=) c.2718G>C (p.Leu906=) n.4269G>C | |
| 13 | g.51935667C>T | CA483893093 | ATP7B | c.*1700G>A (n.*1700G>A) c.*2794G>A (n.*2794G>A) c.3429G>A (p.Leu1143=) c.4050G>A (p.Leu1350=) c.3717G>A (p.Leu1239=) c.3798G>A (p.Leu1266=) n.1373G>A c.3816G>A (p.Leu1272=) n.4189G>A n.916G>A c.2985G>A (p.Leu995=) c.2760G>A (p.Leu920=) c.3855G>A (p.Leu1285=) c.1828G>A c.*1151G>A (n.*1151G>A) n.4794G>A n.3395G>A c.3906G>A (p.Leu1302=) c.3954G>A (p.Leu1318=) c.4014G>A (p.Leu1338=) c.3564G>A (p.Leu1188=) c.1866G>A (p.Leu622=) c.1683G>A (p.Leu561=) c.3915G>A (p.Leu1305=) c.3867G>A (p.Leu1289=) c.3636G>A (p.Leu1212=) c.3537G>A (p.Leu1179=) c.2718G>A (p.Leu906=) n.4269G>A | |
| 13 | g.51935668A= | CA2091551386 | ATP7B | c.*1699T= (n.*1699T=) c.*2793T= (n.*2793T=) c.3428T= (p.Leu1143=) c.4049T= (p.Leu1350=) c.3716T= (p.Leu1239=) c.3797T= (p.Leu1266=) n.1372T= c.3815T= (p.Leu1272=) n.4188T= n.915T= c.2984T= (p.Leu995=) c.2759T= (p.Leu920=) c.3854T= (p.Leu1285=) c.1827T= c.*1150T= (n.*1150T=) n.4793T= n.3394T= c.3905T= (p.Leu1302=) c.3953T= (p.Leu1318=) c.4013T= (p.Leu1338=) c.3563T= (p.Leu1188=) c.1865T= (p.Leu622=) c.1682T= (p.Leu561=) c.3914T= (p.Leu1305=) c.3866T= (p.Leu1289=) c.3635T= (p.Leu1212=) c.3536T= (p.Leu1179=) c.2717T= (p.Leu906=) n.4268T= | |
| 13 | g.51935668A>C | CA388020213 | ATP7B | c.*1699T>G (n.*1699T>G) c.*2793T>G (n.*2793T>G) c.3428T>G (p.Leu1143Arg) c.4049T>G (p.Leu1350Arg) c.3716T>G (p.Leu1239Arg) c.3797T>G (p.Leu1266Arg) n.1372T>G c.3815T>G (p.Leu1272Arg) n.4188T>G n.915T>G c.2984T>G (p.Leu995Arg) c.2759T>G (p.Leu920Arg) c.3854T>G (p.Leu1285Arg) c.1827T>G c.*1150T>G (n.*1150T>G) n.4793T>G n.3394T>G c.3905T>G (p.Leu1302Arg) c.3953T>G (p.Leu1318Arg) c.4013T>G (p.Leu1338Arg) c.3563T>G (p.Leu1188Arg) c.1865T>G (p.Leu622Arg) c.1682T>G (p.Leu561Arg) c.3914T>G (p.Leu1305Arg) c.3866T>G (p.Leu1289Arg) c.3635T>G (p.Leu1212Arg) c.3536T>G (p.Leu1179Arg) c.2717T>G (p.Leu906Arg) n.4268T>G | |
| 13 | g.51935668A>G | CA6988499 | ATP7B | c.*1699T>C (n.*1699T>C) c.*2793T>C (n.*2793T>C) c.3428T>C (p.Leu1143Pro) c.4049T>C (p.Leu1350Pro) c.3716T>C (p.Leu1239Pro) c.3797T>C (p.Leu1266Pro) n.1372T>C c.3815T>C (p.Leu1272Pro) n.4188T>C n.915T>C c.2984T>C (p.Leu995Pro) c.2759T>C (p.Leu920Pro) c.3854T>C (p.Leu1285Pro) c.1827T>C c.*1150T>C (n.*1150T>C) n.4793T>C n.3394T>C c.3905T>C (p.Leu1302Pro) c.3953T>C (p.Leu1318Pro) c.4013T>C (p.Leu1338Pro) c.3563T>C (p.Leu1188Pro) c.1865T>C (p.Leu622Pro) c.1682T>C (p.Leu561Pro) c.3914T>C (p.Leu1305Pro) c.3866T>C (p.Leu1289Pro) c.3635T>C (p.Leu1212Pro) c.3536T>C (p.Leu1179Pro) c.2717T>C (p.Leu906Pro) n.4268T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51935668A>T | CA388020212 | ATP7B | c.*1699T>A (n.*1699T>A) c.*2793T>A (n.*2793T>A) c.3428T>A (p.Leu1143Gln) c.4049T>A (p.Leu1350Gln) c.3716T>A (p.Leu1239Gln) c.3797T>A (p.Leu1266Gln) n.1372T>A c.3815T>A (p.Leu1272Gln) n.4188T>A n.915T>A c.2984T>A (p.Leu995Gln) c.2759T>A (p.Leu920Gln) c.3854T>A (p.Leu1285Gln) c.1827T>A c.*1150T>A (n.*1150T>A) n.4793T>A n.3394T>A c.3905T>A (p.Leu1302Gln) c.3953T>A (p.Leu1318Gln) c.4013T>A (p.Leu1338Gln) c.3563T>A (p.Leu1188Gln) c.1865T>A (p.Leu622Gln) c.1682T>A (p.Leu561Gln) c.3914T>A (p.Leu1305Gln) c.3866T>A (p.Leu1289Gln) c.3635T>A (p.Leu1212Gln) c.3536T>A (p.Leu1179Gln) c.2717T>A (p.Leu906Gln) n.4268T>A | |
| 13 | g.51935669G>A | CA483893098 | ATP7B | c.*1698C>T (n.*1698C>T) c.*2792C>T (n.*2792C>T) c.3427C>T (p.Leu1143=) c.4048C>T (p.Leu1350=) c.3715C>T (p.Leu1239=) c.3796C>T (p.Leu1266=) n.1371C>T c.3814C>T (p.Leu1272=) n.4187C>T n.914C>T c.2983C>T (p.Leu995=) c.2758C>T (p.Leu920=) c.3853C>T (p.Leu1285=) c.1826C>T c.*1149C>T (n.*1149C>T) n.4792C>T n.3393C>T c.3904C>T (p.Leu1302=) c.3952C>T (p.Leu1318=) c.4012C>T (p.Leu1338=) c.3562C>T (p.Leu1188=) c.1864C>T (p.Leu622=) c.1681C>T (p.Leu561=) c.3913C>T (p.Leu1305=) c.3865C>T (p.Leu1289=) c.3634C>T (p.Leu1212=) c.3535C>T (p.Leu1179=) c.2716C>T (p.Leu906=) n.4267C>T | gnomAD v4 |
| 13 | g.51935669G>C | CA388020214 | ATP7B | c.*1698C>G (n.*1698C>G) c.*2792C>G (n.*2792C>G) c.3427C>G (p.Leu1143Val) c.4048C>G (p.Leu1350Val) c.3715C>G (p.Leu1239Val) c.3796C>G (p.Leu1266Val) n.1371C>G c.3814C>G (p.Leu1272Val) n.4187C>G n.914C>G c.2983C>G (p.Leu995Val) c.2758C>G (p.Leu920Val) c.3853C>G (p.Leu1285Val) c.1826C>G c.*1149C>G (n.*1149C>G) n.4792C>G n.3393C>G c.3904C>G (p.Leu1302Val) c.3952C>G (p.Leu1318Val) c.4012C>G (p.Leu1338Val) c.3562C>G (p.Leu1188Val) c.1864C>G (p.Leu622Val) c.1681C>G (p.Leu561Val) c.3913C>G (p.Leu1305Val) c.3865C>G (p.Leu1289Val) c.3634C>G (p.Leu1212Val) c.3535C>G (p.Leu1179Val) c.2716C>G (p.Leu906Val) n.4267C>G | gnomAD v4 |
| 13 | g.51935669G>T | CA388020215 | ATP7B | c.*1698C>A (n.*1698C>A) c.*2792C>A (n.*2792C>A) c.3427C>A (p.Leu1143Met) c.4048C>A (p.Leu1350Met) c.3715C>A (p.Leu1239Met) c.3796C>A (p.Leu1266Met) n.1371C>A c.3814C>A (p.Leu1272Met) n.4187C>A n.914C>A c.2983C>A (p.Leu995Met) c.2758C>A (p.Leu920Met) c.3853C>A (p.Leu1285Met) c.1826C>A c.*1149C>A (n.*1149C>A) n.4792C>A n.3393C>A c.3904C>A (p.Leu1302Met) c.3952C>A (p.Leu1318Met) c.4012C>A (p.Leu1338Met) c.3562C>A (p.Leu1188Met) c.1864C>A (p.Leu622Met) c.1681C>A (p.Leu561Met) c.3913C>A (p.Leu1305Met) c.3865C>A (p.Leu1289Met) c.3634C>A (p.Leu1212Met) c.3535C>A (p.Leu1179Met) c.2716C>A (p.Leu906Met) n.4267C>A | |
| 13 | g.51935670C>A | CA483893103 | ATP7B | c.*1697G>T (n.*1697G>T) c.*2791G>T (n.*2791G>T) c.3426G>T (p.Val1142=) c.4047G>T (p.Val1349=) c.3714G>T (p.Val1238=) c.3795G>T (p.Val1265=) n.1370G>T c.3813G>T (p.Val1271=) n.4186G>T n.913G>T c.2982G>T (p.Val994=) c.2757G>T (p.Val919=) c.3852G>T (p.Val1284=) c.1825G>T c.*1148G>T (n.*1148G>T) n.4791G>T n.3392G>T c.3903G>T (p.Val1301=) c.3951G>T (p.Val1317=) c.4011G>T (p.Val1337=) c.3561G>T (p.Val1187=) c.1863G>T (p.Val621=) c.1680G>T (p.Val560=) c.3912G>T (p.Val1304=) c.3864G>T (p.Val1288=) c.3633G>T (p.Val1211=) c.3534G>T (p.Val1178=) c.2715G>T (p.Val905=) n.4266G>T | |
| 13 | g.51935670C>G | CA483893106 | ATP7B | c.*1697G>C (n.*1697G>C) c.*2791G>C (n.*2791G>C) c.3426G>C (p.Val1142=) c.4047G>C (p.Val1349=) c.3714G>C (p.Val1238=) c.3795G>C (p.Val1265=) n.1370G>C c.3813G>C (p.Val1271=) n.4186G>C n.913G>C c.2982G>C (p.Val994=) c.2757G>C (p.Val919=) c.3852G>C (p.Val1284=) c.1825G>C c.*1148G>C (n.*1148G>C) n.4791G>C n.3392G>C c.3903G>C (p.Val1301=) c.3951G>C (p.Val1317=) c.4011G>C (p.Val1337=) c.3561G>C (p.Val1187=) c.1863G>C (p.Val621=) c.1680G>C (p.Val560=) c.3912G>C (p.Val1304=) c.3864G>C (p.Val1288=) c.3633G>C (p.Val1211=) c.3534G>C (p.Val1178=) c.2715G>C (p.Val905=) n.4266G>C | |
| 13 | g.51935670C>T | CA483893109 | ATP7B | c.*1697G>A (n.*1697G>A) c.*2791G>A (n.*2791G>A) c.3426G>A (p.Val1142=) c.4047G>A (p.Val1349=) c.3714G>A (p.Val1238=) c.3795G>A (p.Val1265=) n.1370G>A c.3813G>A (p.Val1271=) n.4186G>A n.913G>A c.2982G>A (p.Val994=) c.2757G>A (p.Val919=) c.3852G>A (p.Val1284=) c.1825G>A c.*1148G>A (n.*1148G>A) n.4791G>A n.3392G>A c.3903G>A (p.Val1301=) c.3951G>A (p.Val1317=) c.4011G>A (p.Val1337=) c.3561G>A (p.Val1187=) c.1863G>A (p.Val621=) c.1680G>A (p.Val560=) c.3912G>A (p.Val1304=) c.3864G>A (p.Val1288=) c.3633G>A (p.Val1211=) c.3534G>A (p.Val1178=) c.2715G>A (p.Val905=) n.4266G>A | |
| 13 | g.51935671A>C | CA388020216 | ATP7B | c.*1696T>G (n.*1696T>G) c.*2790T>G (n.*2790T>G) c.3425T>G (p.Val1142Gly) c.4046T>G (p.Val1349Gly) c.3713T>G (p.Val1238Gly) c.3794T>G (p.Val1265Gly) n.1369T>G c.3812T>G (p.Val1271Gly) n.4185T>G n.912T>G c.2981T>G (p.Val994Gly) c.2756T>G (p.Val919Gly) c.3851T>G (p.Val1284Gly) c.1824T>G c.*1147T>G (n.*1147T>G) n.4790T>G n.3391T>G c.3902T>G (p.Val1301Gly) c.3950T>G (p.Val1317Gly) c.4010T>G (p.Val1337Gly) c.3560T>G (p.Val1187Gly) c.1862T>G (p.Val621Gly) c.1679T>G (p.Val560Gly) c.3911T>G (p.Val1304Gly) c.3863T>G (p.Val1288Gly) c.3632T>G (p.Val1211Gly) c.3533T>G (p.Val1178Gly) c.2714T>G (p.Val905Gly) n.4265T>G | |
| 13 | g.51935671A>G | CA388020217 | ATP7B | c.*1696T>C (n.*1696T>C) c.*2790T>C (n.*2790T>C) c.3425T>C (p.Val1142Ala) c.4046T>C (p.Val1349Ala) c.3713T>C (p.Val1238Ala) c.3794T>C (p.Val1265Ala) n.1369T>C c.3812T>C (p.Val1271Ala) n.4185T>C n.912T>C c.2981T>C (p.Val994Ala) c.2756T>C (p.Val919Ala) c.3851T>C (p.Val1284Ala) c.1824T>C c.*1147T>C (n.*1147T>C) n.4790T>C n.3391T>C c.3902T>C (p.Val1301Ala) c.3950T>C (p.Val1317Ala) c.4010T>C (p.Val1337Ala) c.3560T>C (p.Val1187Ala) c.1862T>C (p.Val621Ala) c.1679T>C (p.Val560Ala) c.3911T>C (p.Val1304Ala) c.3863T>C (p.Val1288Ala) c.3632T>C (p.Val1211Ala) c.3533T>C (p.Val1178Ala) c.2714T>C (p.Val905Ala) n.4265T>C | gnomAD v4 |
| 13 | g.51935671A>T | CA388020219 | ATP7B | c.*1696T>A (n.*1696T>A) c.*2790T>A (n.*2790T>A) c.3425T>A (p.Val1142Glu) c.4046T>A (p.Val1349Glu) c.3713T>A (p.Val1238Glu) c.3794T>A (p.Val1265Glu) n.1369T>A c.3812T>A (p.Val1271Glu) n.4185T>A n.912T>A c.2981T>A (p.Val994Glu) c.2756T>A (p.Val919Glu) c.3851T>A (p.Val1284Glu) c.1824T>A c.*1147T>A (n.*1147T>A) n.4790T>A n.3391T>A c.3902T>A (p.Val1301Glu) c.3950T>A (p.Val1317Glu) c.4010T>A (p.Val1337Glu) c.3560T>A (p.Val1187Glu) c.1862T>A (p.Val621Glu) c.1679T>A (p.Val560Glu) c.3911T>A (p.Val1304Glu) c.3863T>A (p.Val1288Glu) c.3632T>A (p.Val1211Glu) c.3533T>A (p.Val1178Glu) c.2714T>A (p.Val905Glu) n.4265T>A | |
| 13 | g.51935672C>A | CA388020220 | ATP7B | c.*1695G>T (n.*1695G>T) c.*2789G>T (n.*2789G>T) c.3424G>T (p.Val1142Leu) c.4045G>T (p.Val1349Leu) c.3712G>T (p.Val1238Leu) c.3793G>T (p.Val1265Leu) n.1368G>T c.3811G>T (p.Val1271Leu) n.4184G>T n.911G>T c.2980G>T (p.Val994Leu) c.2755G>T (p.Val919Leu) c.3850G>T (p.Val1284Leu) c.1823G>T c.*1146G>T (n.*1146G>T) n.4789G>T n.3390G>T c.3901G>T (p.Val1301Leu) c.3949G>T (p.Val1317Leu) c.4009G>T (p.Val1337Leu) c.3559G>T (p.Val1187Leu) c.1861G>T (p.Val621Leu) c.1678G>T (p.Val560Leu) c.3910G>T (p.Val1304Leu) c.3862G>T (p.Val1288Leu) c.3631G>T (p.Val1211Leu) c.3532G>T (p.Val1178Leu) c.2713G>T (p.Val905Leu) n.4264G>T | |
| 13 | g.51935672C= | CA2091551388 | ATP7B | c.*1695G= (n.*1695G=) c.*2789G= (n.*2789G=) c.3424G= (p.Val1142=) c.4045G= (p.Val1349=) c.3712G= (p.Val1238=) c.3793G= (p.Val1265=) n.1368G= c.3811G= (p.Val1271=) n.4184G= n.911G= c.2980G= (p.Val994=) c.2755G= (p.Val919=) c.3850G= (p.Val1284=) c.1823G= c.*1146G= (n.*1146G=) n.4789G= n.3390G= c.3901G= (p.Val1301=) c.3949G= (p.Val1317=) c.4009G= (p.Val1337=) c.3559G= (p.Val1187=) c.1861G= (p.Val621=) c.1678G= (p.Val560=) c.3910G= (p.Val1304=) c.3862G= (p.Val1288=) c.3631G= (p.Val1211=) c.3532G= (p.Val1178=) c.2713G= (p.Val905=) n.4264G= | |
| 13 | g.51935672C>G | CA6988500 | ATP7B | c.*1695G>C (n.*1695G>C) c.*2789G>C (n.*2789G>C) c.3424G>C (p.Val1142Leu) c.4045G>C (p.Val1349Leu) c.3712G>C (p.Val1238Leu) c.3793G>C (p.Val1265Leu) n.1368G>C c.3811G>C (p.Val1271Leu) n.4184G>C n.911G>C c.2980G>C (p.Val994Leu) c.2755G>C (p.Val919Leu) c.3850G>C (p.Val1284Leu) c.1823G>C c.*1146G>C (n.*1146G>C) n.4789G>C n.3390G>C c.3901G>C (p.Val1301Leu) c.3949G>C (p.Val1317Leu) c.4009G>C (p.Val1337Leu) c.3559G>C (p.Val1187Leu) c.1861G>C (p.Val621Leu) c.1678G>C (p.Val560Leu) c.3910G>C (p.Val1304Leu) c.3862G>C (p.Val1288Leu) c.3631G>C (p.Val1211Leu) c.3532G>C (p.Val1178Leu) c.2713G>C (p.Val905Leu) n.4264G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51935672C>T | CA388020221 | ATP7B | c.*1695G>A (n.*1695G>A) c.*2789G>A (n.*2789G>A) c.3424G>A (p.Val1142Met) c.4045G>A (p.Val1349Met) c.3712G>A (p.Val1238Met) c.3793G>A (p.Val1265Met) n.1368G>A c.3811G>A (p.Val1271Met) n.4184G>A n.911G>A c.2980G>A (p.Val994Met) c.2755G>A (p.Val919Met) c.3850G>A (p.Val1284Met) c.1823G>A c.*1146G>A (n.*1146G>A) n.4789G>A n.3390G>A c.3901G>A (p.Val1301Met) c.3949G>A (p.Val1317Met) c.4009G>A (p.Val1337Met) c.3559G>A (p.Val1187Met) c.1861G>A (p.Val621Met) c.1678G>A (p.Val560Met) c.3910G>A (p.Val1304Met) c.3862G>A (p.Val1288Met) c.3631G>A (p.Val1211Met) c.3532G>A (p.Val1178Met) c.2713G>A (p.Val905Met) n.4264G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51935673A>C | CA388020223 | ATP7B | c.*1694T>G (n.*1694T>G) c.*2788T>G (n.*2788T>G) c.3423T>G (p.Ile1141Met) c.4044T>G (p.Ile1348Met) c.3711T>G (p.Ile1237Met) c.3792T>G (p.Ile1264Met) n.1367T>G c.3810T>G (p.Ile1270Met) n.4183T>G n.910T>G c.2979T>G (p.Ile993Met) c.2754T>G (p.Ile918Met) c.3849T>G (p.Ile1283Met) c.1822T>G c.*1145T>G (n.*1145T>G) n.4788T>G n.3389T>G c.3900T>G (p.Ile1300Met) c.3948T>G (p.Ile1316Met) c.4008T>G (p.Ile1336Met) c.3558T>G (p.Ile1186Met) c.1860T>G (p.Ile620Met) c.1677T>G (p.Ile559Met) c.3909T>G (p.Ile1303Met) c.3861T>G (p.Ile1287Met) c.3630T>G (p.Ile1210Met) c.3531T>G (p.Ile1177Met) c.2712T>G (p.Ile904Met) n.4263T>G | |
| 13 | g.51935673A>G | CA483893117 | ATP7B | c.*1694T>C (n.*1694T>C) c.*2788T>C (n.*2788T>C) c.3423T>C (p.Ile1141=) c.4044T>C (p.Ile1348=) c.3711T>C (p.Ile1237=) c.3792T>C (p.Ile1264=) n.1367T>C c.3810T>C (p.Ile1270=) n.4183T>C n.910T>C c.2979T>C (p.Ile993=) c.2754T>C (p.Ile918=) c.3849T>C (p.Ile1283=) c.1822T>C c.*1145T>C (n.*1145T>C) n.4788T>C n.3389T>C c.3900T>C (p.Ile1300=) c.3948T>C (p.Ile1316=) c.4008T>C (p.Ile1336=) c.3558T>C (p.Ile1186=) c.1860T>C (p.Ile620=) c.1677T>C (p.Ile559=) c.3909T>C (p.Ile1303=) c.3861T>C (p.Ile1287=) c.3630T>C (p.Ile1210=) c.3531T>C (p.Ile1177=) c.2712T>C (p.Ile904=) n.4263T>C | |
| 13 | g.51935673A>T | CA483893119 | ATP7B | c.*1694T>A (n.*1694T>A) c.*2788T>A (n.*2788T>A) c.3423T>A (p.Ile1141=) c.4044T>A (p.Ile1348=) c.3711T>A (p.Ile1237=) c.3792T>A (p.Ile1264=) n.1367T>A c.3810T>A (p.Ile1270=) n.4183T>A n.910T>A c.2979T>A (p.Ile993=) c.2754T>A (p.Ile918=) c.3849T>A (p.Ile1283=) c.1822T>A c.*1145T>A (n.*1145T>A) n.4788T>A n.3389T>A c.3900T>A (p.Ile1300=) c.3948T>A (p.Ile1316=) c.4008T>A (p.Ile1336=) c.3558T>A (p.Ile1186=) c.1860T>A (p.Ile620=) c.1677T>A (p.Ile559=) c.3909T>A (p.Ile1303=) c.3861T>A (p.Ile1287=) c.3630T>A (p.Ile1210=) c.3531T>A (p.Ile1177=) c.2712T>A (p.Ile904=) n.4263T>A | |
| 13 | g.51935674A>C | CA388020225 | ATP7B | c.*1693T>G (n.*1693T>G) c.*2787T>G (n.*2787T>G) c.3422T>G (p.Ile1141Ser) c.4043T>G (p.Ile1348Ser) c.3710T>G (p.Ile1237Ser) c.3791T>G (p.Ile1264Ser) n.1366T>G c.3809T>G (p.Ile1270Ser) n.4182T>G n.909T>G c.2978T>G (p.Ile993Ser) c.2753T>G (p.Ile918Ser) c.3848T>G (p.Ile1283Ser) c.1821T>G c.*1144T>G (n.*1144T>G) n.4787T>G n.3388T>G c.3899T>G (p.Ile1300Ser) c.3947T>G (p.Ile1316Ser) c.4007T>G (p.Ile1336Ser) c.3557T>G (p.Ile1186Ser) c.1859T>G (p.Ile620Ser) c.1676T>G (p.Ile559Ser) c.3908T>G (p.Ile1303Ser) c.3860T>G (p.Ile1287Ser) c.3629T>G (p.Ile1210Ser) c.3530T>G (p.Ile1177Ser) c.2711T>G (p.Ile904Ser) n.4262T>G | |
| 13 | g.51935674A>G | CA388020228 | ATP7B | c.*1693T>C (n.*1693T>C) c.*2787T>C (n.*2787T>C) c.3422T>C (p.Ile1141Thr) c.4043T>C (p.Ile1348Thr) c.3710T>C (p.Ile1237Thr) c.3791T>C (p.Ile1264Thr) n.1366T>C c.3809T>C (p.Ile1270Thr) n.4182T>C n.909T>C c.2978T>C (p.Ile993Thr) c.2753T>C (p.Ile918Thr) c.3848T>C (p.Ile1283Thr) c.1821T>C c.*1144T>C (n.*1144T>C) n.4787T>C n.3388T>C c.3899T>C (p.Ile1300Thr) c.3947T>C (p.Ile1316Thr) c.4007T>C (p.Ile1336Thr) c.3557T>C (p.Ile1186Thr) c.1859T>C (p.Ile620Thr) c.1676T>C (p.Ile559Thr) c.3908T>C (p.Ile1303Thr) c.3860T>C (p.Ile1287Thr) c.3629T>C (p.Ile1210Thr) c.3530T>C (p.Ile1177Thr) c.2711T>C (p.Ile904Thr) n.4262T>C | |
| 13 | g.51935674A>T | CA388020229 | ATP7B | c.*1693T>A (n.*1693T>A) c.*2787T>A (n.*2787T>A) c.3422T>A (p.Ile1141Asn) c.4043T>A (p.Ile1348Asn) c.3710T>A (p.Ile1237Asn) c.3791T>A (p.Ile1264Asn) n.1366T>A c.3809T>A (p.Ile1270Asn) n.4182T>A n.909T>A c.2978T>A (p.Ile993Asn) c.2753T>A (p.Ile918Asn) c.3848T>A (p.Ile1283Asn) c.1821T>A c.*1144T>A (n.*1144T>A) n.4787T>A n.3388T>A c.3899T>A (p.Ile1300Asn) c.3947T>A (p.Ile1316Asn) c.4007T>A (p.Ile1336Asn) c.3557T>A (p.Ile1186Asn) c.1859T>A (p.Ile620Asn) c.1676T>A (p.Ile559Asn) c.3908T>A (p.Ile1303Asn) c.3860T>A (p.Ile1287Asn) c.3629T>A (p.Ile1210Asn) c.3530T>A (p.Ile1177Asn) c.2711T>A (p.Ile904Asn) n.4262T>A | |
| 13 | g.51935674_51935675del | CA2739291795 | ATP7B | c.*1692_*1693del (n.*1692_*1693del) c.*2786_*2787del (n.*2786_*2787del) c.3421_3422del (p.Ile1141CysfsTer29) c.4042_4043del (p.Ile1348CysfsTer29) c.3709_3710del (p.Ile1237CysfsTer29) c.3790_3791del (p.Ile1264CysfsTer29) n.1365_1366del c.3808_3809del (p.Ile1270CysfsTer29) n.4181_4182del n.908_909del c.2977_2978del (p.Ile993CysfsTer29) c.2752_2753del (p.Ile918CysfsTer29) c.3847_3848del (p.Ile1283CysfsTer29) c.1820_1821del c.*1143_*1144del (n.*1143_*1144del) n.4786_4787del n.3387_3388del c.3898_3899del (p.Ile1300CysfsTer29) c.3946_3947del (p.Ile1316CysfsTer29) c.4006_4007del (p.Ile1336CysfsTer29) c.3556_3557del (p.Ile1186CysfsTer29) c.1858_1859del (p.Ile620CysfsTer29) c.1675_1676del (p.Ile559CysfsTer29) c.3907_3908del (p.Ile1303CysfsTer29) c.3859_3860del (p.Ile1287CysfsTer29) c.3628_3629del (p.Ile1210CysfsTer29) c.3529_3530del (p.Ile1177CysfsTer29) c.2710_2711del (p.Ile904CysfsTer29) n.4261_4262del | |
| 13 | g.51935675T>A | CA388020232 | ATP7B | c.*1692A>T (n.*1692A>T) c.*2786A>T (n.*2786A>T) c.3421A>T (p.Ile1141Phe) c.4042A>T (p.Ile1348Phe) c.3709A>T (p.Ile1237Phe) c.3790A>T (p.Ile1264Phe) n.1365A>T c.3808A>T (p.Ile1270Phe) n.4181A>T n.908A>T c.2977A>T (p.Ile993Phe) c.2752A>T (p.Ile918Phe) c.3847A>T (p.Ile1283Phe) c.1820A>T c.*1143A>T (n.*1143A>T) n.4786A>T n.3387A>T c.3898A>T (p.Ile1300Phe) c.3946A>T (p.Ile1316Phe) c.4006A>T (p.Ile1336Phe) c.3556A>T (p.Ile1186Phe) c.1858A>T (p.Ile620Phe) c.1675A>T (p.Ile559Phe) c.3907A>T (p.Ile1303Phe) c.3859A>T (p.Ile1287Phe) c.3628A>T (p.Ile1210Phe) c.3529A>T (p.Ile1177Phe) c.2710A>T (p.Ile904Phe) n.4261A>T | |
| 13 | g.51935675T>C | CA388020233 | ATP7B | c.*1692A>G (n.*1692A>G) c.*2786A>G (n.*2786A>G) c.3421A>G (p.Ile1141Val) c.4042A>G (p.Ile1348Val) c.3709A>G (p.Ile1237Val) c.3790A>G (p.Ile1264Val) n.1365A>G c.3808A>G (p.Ile1270Val) n.4181A>G n.908A>G c.2977A>G (p.Ile993Val) c.2752A>G (p.Ile918Val) c.3847A>G (p.Ile1283Val) c.1820A>G c.*1143A>G (n.*1143A>G) n.4786A>G n.3387A>G c.3898A>G (p.Ile1300Val) c.3946A>G (p.Ile1316Val) c.4006A>G (p.Ile1336Val) c.3556A>G (p.Ile1186Val) c.1858A>G (p.Ile620Val) c.1675A>G (p.Ile559Val) c.3907A>G (p.Ile1303Val) c.3859A>G (p.Ile1287Val) c.3628A>G (p.Ile1210Val) c.3529A>G (p.Ile1177Val) c.2710A>G (p.Ile904Val) n.4261A>G | |
| 13 | g.51935675T>G | CA388020235 | ATP7B | c.*1692A>C (n.*1692A>C) c.*2786A>C (n.*2786A>C) c.3421A>C (p.Ile1141Leu) c.4042A>C (p.Ile1348Leu) c.3709A>C (p.Ile1237Leu) c.3790A>C (p.Ile1264Leu) n.1365A>C c.3808A>C (p.Ile1270Leu) n.4181A>C n.908A>C c.2977A>C (p.Ile993Leu) c.2752A>C (p.Ile918Leu) c.3847A>C (p.Ile1283Leu) c.1820A>C c.*1143A>C (n.*1143A>C) n.4786A>C n.3387A>C c.3898A>C (p.Ile1300Leu) c.3946A>C (p.Ile1316Leu) c.4006A>C (p.Ile1336Leu) c.3556A>C (p.Ile1186Leu) c.1858A>C (p.Ile620Leu) c.1675A>C (p.Ile559Leu) c.3907A>C (p.Ile1303Leu) c.3859A>C (p.Ile1287Leu) c.3628A>C (p.Ile1210Leu) c.3529A>C (p.Ile1177Leu) c.2710A>C (p.Ile904Leu) n.4261A>C | |
| 13 | g.51935676G>A | CA483893139 | ATP7B | c.*1691C>T (n.*1691C>T) c.*2785C>T (n.*2785C>T) c.3420C>T (p.Gly1140=) c.4041C>T (p.Gly1347=) c.3708C>T (p.Gly1236=) c.3789C>T (p.Gly1263=) n.1364C>T c.3807C>T (p.Gly1269=) n.4180C>T n.907C>T c.2976C>T (p.Gly992=) c.2751C>T (p.Gly917=) c.3846C>T (p.Gly1282=) c.1819C>T c.*1142C>T (n.*1142C>T) n.4785C>T n.3386C>T c.3897C>T (p.Gly1299=) c.3945C>T (p.Gly1315=) c.4005C>T (p.Gly1335=) c.3555C>T (p.Gly1185=) c.1857C>T (p.Gly619=) c.1674C>T (p.Gly558=) c.3906C>T (p.Gly1302=) c.3858C>T (p.Gly1286=) c.3627C>T (p.Gly1209=) c.3528C>T (p.Gly1176=) c.2709C>T (p.Gly903=) n.4260C>T | |
| 13 | g.51935676G>C | CA483893134 | ATP7B | c.*1691C>G (n.*1691C>G) c.*2785C>G (n.*2785C>G) c.3420C>G (p.Gly1140=) c.4041C>G (p.Gly1347=) c.3708C>G (p.Gly1236=) c.3789C>G (p.Gly1263=) n.1364C>G c.3807C>G (p.Gly1269=) n.4180C>G n.907C>G c.2976C>G (p.Gly992=) c.2751C>G (p.Gly917=) c.3846C>G (p.Gly1282=) c.1819C>G c.*1142C>G (n.*1142C>G) n.4785C>G n.3386C>G c.3897C>G (p.Gly1299=) c.3945C>G (p.Gly1315=) c.4005C>G (p.Gly1335=) c.3555C>G (p.Gly1185=) c.1857C>G (p.Gly619=) c.1674C>G (p.Gly558=) c.3906C>G (p.Gly1302=) c.3858C>G (p.Gly1286=) c.3627C>G (p.Gly1209=) c.3528C>G (p.Gly1176=) c.2709C>G (p.Gly903=) n.4260C>G | |
| 13 | g.51935676G>T | CA483893130 | ATP7B | c.*1691C>A (n.*1691C>A) c.*2785C>A (n.*2785C>A) c.3420C>A (p.Gly1140=) c.4041C>A (p.Gly1347=) c.3708C>A (p.Gly1236=) c.3789C>A (p.Gly1263=) n.1364C>A c.3807C>A (p.Gly1269=) n.4180C>A n.907C>A c.2976C>A (p.Gly992=) c.2751C>A (p.Gly917=) c.3846C>A (p.Gly1282=) c.1819C>A c.*1142C>A (n.*1142C>A) n.4785C>A n.3386C>A c.3897C>A (p.Gly1299=) c.3945C>A (p.Gly1315=) c.4005C>A (p.Gly1335=) c.3555C>A (p.Gly1185=) c.1857C>A (p.Gly619=) c.1674C>A (p.Gly558=) c.3906C>A (p.Gly1302=) c.3858C>A (p.Gly1286=) c.3627C>A (p.Gly1209=) c.3528C>A (p.Gly1176=) c.2709C>A (p.Gly903=) n.4260C>A | |
| 13 | g.51935677C>A | CA388020237 | ATP7B | c.*1690G>T (n.*1690G>T) c.*2784G>T (n.*2784G>T) c.3419G>T (p.Gly1140Val) c.4040G>T (p.Gly1347Val) c.3707G>T (p.Gly1236Val) c.3788G>T (p.Gly1263Val) n.1363G>T c.3806G>T (p.Gly1269Val) n.4179G>T n.906G>T c.2975G>T (p.Gly992Val) c.2750G>T (p.Gly917Val) c.3845G>T (p.Gly1282Val) c.1818G>T c.*1141G>T (n.*1141G>T) n.4784G>T n.3385G>T c.3896G>T (p.Gly1299Val) c.3944G>T (p.Gly1315Val) c.4004G>T (p.Gly1335Val) c.3554G>T (p.Gly1185Val) c.1856G>T (p.Gly619Val) c.1673G>T (p.Gly558Val) c.3905G>T (p.Gly1302Val) c.3857G>T (p.Gly1286Val) c.3626G>T (p.Gly1209Val) c.3527G>T (p.Gly1176Val) c.2708G>T (p.Gly903Val) n.4259G>T | |
| 13 | g.51935677C>G | CA388020239 | ATP7B | c.*1690G>C (n.*1690G>C) c.*2784G>C (n.*2784G>C) c.3419G>C (p.Gly1140Ala) c.4040G>C (p.Gly1347Ala) c.3707G>C (p.Gly1236Ala) c.3788G>C (p.Gly1263Ala) n.1363G>C c.3806G>C (p.Gly1269Ala) n.4179G>C n.906G>C c.2975G>C (p.Gly992Ala) c.2750G>C (p.Gly917Ala) c.3845G>C (p.Gly1282Ala) c.1818G>C c.*1141G>C (n.*1141G>C) n.4784G>C n.3385G>C c.3896G>C (p.Gly1299Ala) c.3944G>C (p.Gly1315Ala) c.4004G>C (p.Gly1335Ala) c.3554G>C (p.Gly1185Ala) c.1856G>C (p.Gly619Ala) c.1673G>C (p.Gly558Ala) c.3905G>C (p.Gly1302Ala) c.3857G>C (p.Gly1286Ala) c.3626G>C (p.Gly1209Ala) c.3527G>C (p.Gly1176Ala) c.2708G>C (p.Gly903Ala) n.4259G>C | |
| 13 | g.51935677C>T | CA388020241 | ATP7B | c.*1690G>A (n.*1690G>A) c.*2784G>A (n.*2784G>A) c.3419G>A (p.Gly1140Asp) c.4040G>A (p.Gly1347Asp) c.3707G>A (p.Gly1236Asp) c.3788G>A (p.Gly1263Asp) n.1363G>A c.3806G>A (p.Gly1269Asp) n.4179G>A n.906G>A c.2975G>A (p.Gly992Asp) c.2750G>A (p.Gly917Asp) c.3845G>A (p.Gly1282Asp) c.1818G>A c.*1141G>A (n.*1141G>A) n.4784G>A n.3385G>A c.3896G>A (p.Gly1299Asp) c.3944G>A (p.Gly1315Asp) c.4004G>A (p.Gly1335Asp) c.3554G>A (p.Gly1185Asp) c.1856G>A (p.Gly619Asp) c.1673G>A (p.Gly558Asp) c.3905G>A (p.Gly1302Asp) c.3857G>A (p.Gly1286Asp) c.3626G>A (p.Gly1209Asp) c.3527G>A (p.Gly1176Asp) c.2708G>A (p.Gly903Asp) n.4259G>A | gnomAD v4 |
| 13 | g.51935678C>A | CA388020247 | ATP7B | c.*1689G>T (n.*1689G>T) c.*2783G>T (n.*2783G>T) c.3418G>T (p.Gly1140Cys) c.4039G>T (p.Gly1347Cys) c.3706G>T (p.Gly1236Cys) c.3787G>T (p.Gly1263Cys) n.1362G>T c.3805G>T (p.Gly1269Cys) n.4178G>T n.905G>T c.2974G>T (p.Gly992Cys) c.2749G>T (p.Gly917Cys) c.3844G>T (p.Gly1282Cys) c.1817G>T c.*1140G>T (n.*1140G>T) n.4783G>T n.3384G>T c.3895G>T (p.Gly1299Cys) c.3943G>T (p.Gly1315Cys) c.4003G>T (p.Gly1335Cys) c.3553G>T (p.Gly1185Cys) c.1855G>T (p.Gly619Cys) c.1672G>T (p.Gly558Cys) c.3904G>T (p.Gly1302Cys) c.3856G>T (p.Gly1286Cys) c.3625G>T (p.Gly1209Cys) c.3526G>T (p.Gly1176Cys) c.2707G>T (p.Gly903Cys) n.4258G>T | |
| 13 | g.51935678C= | CA2091551389 | ATP7B | c.*1689G= (n.*1689G=) c.*2783G= (n.*2783G=) c.3418G= (p.Gly1140=) c.4039G= (p.Gly1347=) c.3706G= (p.Gly1236=) c.3787G= (p.Gly1263=) n.1362G= c.3805G= (p.Gly1269=) n.4178G= n.905G= c.2974G= (p.Gly992=) c.2749G= (p.Gly917=) c.3844G= (p.Gly1282=) c.1817G= c.*1140G= (n.*1140G=) n.4783G= n.3384G= c.3895G= (p.Gly1299=) c.3943G= (p.Gly1315=) c.4003G= (p.Gly1335=) c.3553G= (p.Gly1185=) c.1855G= (p.Gly619=) c.1672G= (p.Gly558=) c.3904G= (p.Gly1302=) c.3856G= (p.Gly1286=) c.3625G= (p.Gly1209=) c.3526G= (p.Gly1176=) c.2707G= (p.Gly903=) n.4258G= | |
| 13 | g.51935678C>G | CA388020243 | ATP7B | c.*1689G>C (n.*1689G>C) c.*2783G>C (n.*2783G>C) c.3418G>C (p.Gly1140Arg) c.4039G>C (p.Gly1347Arg) c.3706G>C (p.Gly1236Arg) c.3787G>C (p.Gly1263Arg) n.1362G>C c.3805G>C (p.Gly1269Arg) n.4178G>C n.905G>C c.2974G>C (p.Gly992Arg) c.2749G>C (p.Gly917Arg) c.3844G>C (p.Gly1282Arg) c.1817G>C c.*1140G>C (n.*1140G>C) n.4783G>C n.3384G>C c.3895G>C (p.Gly1299Arg) c.3943G>C (p.Gly1315Arg) c.4003G>C (p.Gly1335Arg) c.3553G>C (p.Gly1185Arg) c.1855G>C (p.Gly619Arg) c.1672G>C (p.Gly558Arg) c.3904G>C (p.Gly1302Arg) c.3856G>C (p.Gly1286Arg) c.3625G>C (p.Gly1209Arg) c.3526G>C (p.Gly1176Arg) c.2707G>C (p.Gly903Arg) n.4258G>C | |
| 13 | g.51935678C>T | CA271178 | ATP7B | c.*1689G>A (n.*1689G>A) c.*2783G>A (n.*2783G>A) c.3418G>A (p.Gly1140Ser) c.4039G>A (p.Gly1347Ser) c.3706G>A (p.Gly1236Ser) c.3787G>A (p.Gly1263Ser) n.1362G>A c.3805G>A (p.Gly1269Ser) n.4178G>A n.905G>A c.2974G>A (p.Gly992Ser) c.2749G>A (p.Gly917Ser) c.3844G>A (p.Gly1282Ser) c.1817G>A c.*1140G>A (n.*1140G>A) n.4783G>A n.3384G>A c.3895G>A (p.Gly1299Ser) c.3943G>A (p.Gly1315Ser) c.4003G>A (p.Gly1335Ser) c.3553G>A (p.Gly1185Ser) c.1855G>A (p.Gly619Ser) c.1672G>A (p.Gly558Ser) c.3904G>A (p.Gly1302Ser) c.3856G>A (p.Gly1286Ser) c.3625G>A (p.Gly1209Ser) c.3526G>A (p.Gly1176Ser) c.2707G>A (p.Gly903Ser) n.4258G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51935679G>A | CA6988501 | ATP7B | c.*1688C>T (n.*1688C>T) c.*2782C>T (n.*2782C>T) c.3417C>T (p.Ile1139=) c.4038C>T (p.Ile1346=) c.3705C>T (p.Ile1235=) c.3786C>T (p.Ile1262=) n.1361C>T c.3804C>T (p.Ile1268=) n.4177C>T n.904C>T c.2973C>T (p.Ile991=) c.2748C>T (p.Ile916=) c.3843C>T (p.Ile1281=) c.1816C>T c.*1139C>T (n.*1139C>T) n.4782C>T n.3383C>T c.3894C>T (p.Ile1298=) c.3942C>T (p.Ile1314=) c.4002C>T (p.Ile1334=) c.3552C>T (p.Ile1184=) c.1854C>T (p.Ile618=) c.1671C>T (p.Ile557=) c.3903C>T (p.Ile1301=) c.3855C>T (p.Ile1285=) c.3624C>T (p.Ile1208=) c.3525C>T (p.Ile1175=) c.2706C>T (p.Ile902=) n.4257C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51935679G>C | CA388020252 | ATP7B | c.*1688C>G (n.*1688C>G) c.*2782C>G (n.*2782C>G) c.3417C>G (p.Ile1139Met) c.4038C>G (p.Ile1346Met) c.3705C>G (p.Ile1235Met) c.3786C>G (p.Ile1262Met) n.1361C>G c.3804C>G (p.Ile1268Met) n.4177C>G n.904C>G c.2973C>G (p.Ile991Met) c.2748C>G (p.Ile916Met) c.3843C>G (p.Ile1281Met) c.1816C>G c.*1139C>G (n.*1139C>G) n.4782C>G n.3383C>G c.3894C>G (p.Ile1298Met) c.3942C>G (p.Ile1314Met) c.4002C>G (p.Ile1334Met) c.3552C>G (p.Ile1184Met) c.1854C>G (p.Ile618Met) c.1671C>G (p.Ile557Met) c.3903C>G (p.Ile1301Met) c.3855C>G (p.Ile1285Met) c.3624C>G (p.Ile1208Met) c.3525C>G (p.Ile1175Met) c.2706C>G (p.Ile902Met) n.4257C>G | gnomAD v4 |
| 13 | g.51935679G= | CA2091551392 | ATP7B | c.*1688C= (n.*1688C=) c.*2782C= (n.*2782C=) c.3417C= (p.Ile1139=) c.4038C= (p.Ile1346=) c.3705C= (p.Ile1235=) c.3786C= (p.Ile1262=) n.1361C= c.3804C= (p.Ile1268=) n.4177C= n.904C= c.2973C= (p.Ile991=) c.2748C= (p.Ile916=) c.3843C= (p.Ile1281=) c.1816C= c.*1139C= (n.*1139C=) n.4782C= n.3383C= c.3894C= (p.Ile1298=) c.3942C= (p.Ile1314=) c.4002C= (p.Ile1334=) c.3552C= (p.Ile1184=) c.1854C= (p.Ile618=) c.1671C= (p.Ile557=) c.3903C= (p.Ile1301=) c.3855C= (p.Ile1285=) c.3624C= (p.Ile1208=) c.3525C= (p.Ile1175=) c.2706C= (p.Ile902=) n.4257C= | |
| 13 | g.51935679G>T | CA483893147 | ATP7B | c.*1688C>A (n.*1688C>A) c.*2782C>A (n.*2782C>A) c.3417C>A (p.Ile1139=) c.4038C>A (p.Ile1346=) c.3705C>A (p.Ile1235=) c.3786C>A (p.Ile1262=) n.1361C>A c.3804C>A (p.Ile1268=) n.4177C>A n.904C>A c.2973C>A (p.Ile991=) c.2748C>A (p.Ile916=) c.3843C>A (p.Ile1281=) c.1816C>A c.*1139C>A (n.*1139C>A) n.4782C>A n.3383C>A c.3894C>A (p.Ile1298=) c.3942C>A (p.Ile1314=) c.4002C>A (p.Ile1334=) c.3552C>A (p.Ile1184=) c.1854C>A (p.Ile618=) c.1671C>A (p.Ile557=) c.3903C>A (p.Ile1301=) c.3855C>A (p.Ile1285=) c.3624C>A (p.Ile1208=) c.3525C>A (p.Ile1175=) c.2706C>A (p.Ile902=) n.4257C>A |