| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937483A>C | CA388021372 | ATP7B | c.*1546T>G (n.*1546T>G) c.*2640T>G (n.*2640T>G) c.3275T>G (p.Leu1092Arg) c.3896T>G (p.Leu1299Arg) c.3563T>G (p.Leu1188Arg) c.3644T>G (p.Leu1215Arg) n.1137T>G c.3662T>G (p.Leu1221Arg) n.4035T>G n.762T>G c.2831T>G (p.Leu944Arg) c.2606T>G (p.Leu869Arg) c.3701T>G (p.Leu1234Arg) c.1674T>G c.*997T>G (n.*997T>G) n.4640T>G n.3241T>G c.3752T>G (p.Leu1251Arg) c.3800T>G (p.Leu1267Arg) c.3860T>G (p.Leu1287Arg) c.3410T>G (p.Leu1137Arg) c.1712T>G (p.Leu571Arg) c.1529T>G (p.Leu510Arg) c.3761T>G (p.Leu1254Arg) c.3713T>G (p.Leu1238Arg) c.3482T>G (p.Leu1161Arg) c.3383T>G (p.Leu1128Arg) c.2564T>G (p.Leu855Arg) n.4115T>G | |
| 13 | g.51937483A>G | CA388021377 | ATP7B | c.*1546T>C (n.*1546T>C) c.*2640T>C (n.*2640T>C) c.3275T>C (p.Leu1092Pro) c.3896T>C (p.Leu1299Pro) c.3563T>C (p.Leu1188Pro) c.3644T>C (p.Leu1215Pro) n.1137T>C c.3662T>C (p.Leu1221Pro) n.4035T>C n.762T>C c.2831T>C (p.Leu944Pro) c.2606T>C (p.Leu869Pro) c.3701T>C (p.Leu1234Pro) c.1674T>C c.*997T>C (n.*997T>C) n.4640T>C n.3241T>C c.3752T>C (p.Leu1251Pro) c.3800T>C (p.Leu1267Pro) c.3860T>C (p.Leu1287Pro) c.3410T>C (p.Leu1137Pro) c.1712T>C (p.Leu571Pro) c.1529T>C (p.Leu510Pro) c.3761T>C (p.Leu1254Pro) c.3713T>C (p.Leu1238Pro) c.3482T>C (p.Leu1161Pro) c.3383T>C (p.Leu1128Pro) c.2564T>C (p.Leu855Pro) n.4115T>C | |
| 13 | g.51937483A>T | CA388021374 | ATP7B | c.*1546T>A (n.*1546T>A) c.*2640T>A (n.*2640T>A) c.3275T>A (p.Leu1092His) c.3896T>A (p.Leu1299His) c.3563T>A (p.Leu1188His) c.3644T>A (p.Leu1215His) n.1137T>A c.3662T>A (p.Leu1221His) n.4035T>A n.762T>A c.2831T>A (p.Leu944His) c.2606T>A (p.Leu869His) c.3701T>A (p.Leu1234His) c.1674T>A c.*997T>A (n.*997T>A) n.4640T>A n.3241T>A c.3752T>A (p.Leu1251His) c.3800T>A (p.Leu1267His) c.3860T>A (p.Leu1287His) c.3410T>A (p.Leu1137His) c.1712T>A (p.Leu571His) c.1529T>A (p.Leu510His) c.3761T>A (p.Leu1254His) c.3713T>A (p.Leu1238His) c.3482T>A (p.Leu1161His) c.3383T>A (p.Leu1128His) c.2564T>A (p.Leu855His) n.4115T>A | |
| 13 | g.51937483_51937484delinsAG | CA2091553672 | ATP7B | c.*1545_*1546delinsCT (n.*1545_*1546delinsCT) c.*2639_*2640delinsCT (n.*2639_*2640delinsCT) c.3274_3275delinsCT (p.Leu1092=) c.3895_3896delinsCT (p.Leu1299=) c.3562_3563delinsCT (p.Leu1188=) c.3643_3644delinsCT (p.Leu1215=) n.1136_1137delinsCT c.3661_3662delinsCT (p.Leu1221=) n.4034_4035delinsCT n.761_762delinsCT c.2830_2831delinsCT (p.Leu944=) c.2605_2606delinsCT (p.Leu869=) c.3700_3701delinsCT (p.Leu1234=) c.1673_1674delinsCT c.*996_*997delinsCT (n.*996_*997delinsCT) n.4639_4640delinsCT n.3240_3241delinsCT c.3751_3752delinsCT (p.Leu1251=) c.3799_3800delinsCT (p.Leu1267=) c.3859_3860delinsCT (p.Leu1287=) c.3409_3410delinsCT (p.Leu1137=) c.1711_1712delinsCT (p.Leu571=) c.1528_1529delinsCT (p.Leu510=) c.3760_3761delinsCT (p.Leu1254=) c.3712_3713delinsCT (p.Leu1238=) c.3481_3482delinsCT (p.Leu1161=) c.3382_3383delinsCT (p.Leu1128=) c.2563_2564delinsCT (p.Leu855=) n.4114_4115delinsCT | |
| 13 | g.51937484G>A | CA274423 | ATP7B | c.*1545C>T (n.*1545C>T) c.*2639C>T (n.*2639C>T) c.3274C>T (p.Leu1092Phe) c.3895C>T (p.Leu1299Phe) c.3562C>T (p.Leu1188Phe) c.3643C>T (p.Leu1215Phe) n.1136C>T c.3661C>T (p.Leu1221Phe) n.4034C>T n.761C>T c.2830C>T (p.Leu944Phe) c.2605C>T (p.Leu869Phe) c.3700C>T (p.Leu1234Phe) c.1673C>T c.*996C>T (n.*996C>T) n.4639C>T n.3240C>T c.3751C>T (p.Leu1251Phe) c.3799C>T (p.Leu1267Phe) c.3859C>T (p.Leu1287Phe) c.3409C>T (p.Leu1137Phe) c.1711C>T (p.Leu571Phe) c.1528C>T (p.Leu510Phe) c.3760C>T (p.Leu1254Phe) c.3712C>T (p.Leu1238Phe) c.3481C>T (p.Leu1161Phe) c.3382C>T (p.Leu1128Phe) c.2563C>T (p.Leu855Phe) n.4114C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51937484G>C | CA388021381 | ATP7B | c.*1545C>G (n.*1545C>G) c.*2639C>G (n.*2639C>G) c.3274C>G (p.Leu1092Val) c.3895C>G (p.Leu1299Val) c.3562C>G (p.Leu1188Val) c.3643C>G (p.Leu1215Val) n.1136C>G c.3661C>G (p.Leu1221Val) n.4034C>G n.761C>G c.2830C>G (p.Leu944Val) c.2605C>G (p.Leu869Val) c.3700C>G (p.Leu1234Val) c.1673C>G c.*996C>G (n.*996C>G) n.4639C>G n.3240C>G c.3751C>G (p.Leu1251Val) c.3799C>G (p.Leu1267Val) c.3859C>G (p.Leu1287Val) c.3409C>G (p.Leu1137Val) c.1711C>G (p.Leu571Val) c.1528C>G (p.Leu510Val) c.3760C>G (p.Leu1254Val) c.3712C>G (p.Leu1238Val) c.3481C>G (p.Leu1161Val) c.3382C>G (p.Leu1128Val) c.2563C>G (p.Leu855Val) n.4114C>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937484G= | CA2091553679 | ATP7B | c.*1545C= (n.*1545C=) c.*2639C= (n.*2639C=) c.3274C= (p.Leu1092=) c.3895C= (p.Leu1299=) c.3562C= (p.Leu1188=) c.3643C= (p.Leu1215=) n.1136C= c.3661C= (p.Leu1221=) n.4034C= n.761C= c.2830C= (p.Leu944=) c.2605C= (p.Leu869=) c.3700C= (p.Leu1234=) c.1673C= c.*996C= (n.*996C=) n.4639C= n.3240C= c.3751C= (p.Leu1251=) c.3799C= (p.Leu1267=) c.3859C= (p.Leu1287=) c.3409C= (p.Leu1137=) c.1711C= (p.Leu571=) c.1528C= (p.Leu510=) c.3760C= (p.Leu1254=) c.3712C= (p.Leu1238=) c.3481C= (p.Leu1161=) c.3382C= (p.Leu1128=) c.2563C= (p.Leu855=) n.4114C= | |
| 13 | g.51937484G>T | CA388021383 | ATP7B | c.*1545C>A (n.*1545C>A) c.*2639C>A (n.*2639C>A) c.3274C>A (p.Leu1092Ile) c.3895C>A (p.Leu1299Ile) c.3562C>A (p.Leu1188Ile) c.3643C>A (p.Leu1215Ile) n.1136C>A c.3661C>A (p.Leu1221Ile) n.4034C>A n.761C>A c.2830C>A (p.Leu944Ile) c.2605C>A (p.Leu869Ile) c.3700C>A (p.Leu1234Ile) c.1673C>A c.*996C>A (n.*996C>A) n.4639C>A n.3240C>A c.3751C>A (p.Leu1251Ile) c.3799C>A (p.Leu1267Ile) c.3859C>A (p.Leu1287Ile) c.3409C>A (p.Leu1137Ile) c.1711C>A (p.Leu571Ile) c.1528C>A (p.Leu510Ile) c.3760C>A (p.Leu1254Ile) c.3712C>A (p.Leu1238Ile) c.3481C>A (p.Leu1161Ile) c.3382C>A (p.Leu1128Ile) c.2563C>A (p.Leu855Ile) n.4114C>A | |
| 13 | g.51937485del | CA1139663297 | ATP7B | c.*1545del (n.*1545del) c.*2639del (n.*2639del) c.3274del (p.Ile1093SerfsTer?) c.3895del (p.Ile1300SerfsTer?) c.3562del (p.Ile1189SerfsTer?) c.3643del (p.Ile1216SerfsTer?) n.1136del c.3661del (p.Ile1222SerfsTer?) n.4034del n.761del c.2830del (p.Ile945SerfsTer?) c.2605del (p.Ile870SerfsTer?) c.3700del (p.Ile1235SerfsTer?) c.1673del c.*996del (n.*996del) n.4639del n.3240del c.3751del (p.Ile1252SerfsTer?) c.3799del (p.Ile1268SerfsTer?) c.3859del (p.Ile1288SerfsTer?) c.3409del (p.Ile1138SerfsTer?) c.1711del (p.Ile572SerfsTer?) c.1528del (p.Ile511SerfsTer?) c.3760del (p.Ile1255SerfsTer?) c.3712del (p.Ile1239SerfsTer?) c.3481del (p.Ile1162SerfsTer?) c.3382del (p.Ile1129SerfsTer?) c.2563del (p.Ile856SerfsTer?) n.4114del | ClinVar dbSNP |
| 13 | g.51937485G>A | CA6988548 | ATP7B | c.*1544C>T (n.*1544C>T) c.*2638C>T (n.*2638C>T) c.3273C>T (p.Val1091=) c.3894C>T (p.Val1298=) c.3561C>T (p.Val1187=) c.3642C>T (p.Val1214=) n.1135C>T c.3660C>T (p.Val1220=) n.4033C>T n.760C>T c.2829C>T (p.Val943=) c.2604C>T (p.Val868=) c.3699C>T (p.Val1233=) c.1672C>T c.*995C>T (n.*995C>T) n.4638C>T n.3239C>T c.3750C>T (p.Val1250=) c.3798C>T (p.Val1266=) c.3858C>T (p.Val1286=) c.3408C>T (p.Val1136=) c.1710C>T (p.Val570=) c.1527C>T (p.Val509=) c.3759C>T (p.Val1253=) c.3711C>T (p.Val1237=) c.3480C>T (p.Val1160=) c.3381C>T (p.Val1127=) c.2562C>T (p.Val854=) n.4113C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937485G>C | CA484024274 | ATP7B | c.*1544C>G (n.*1544C>G) c.*2638C>G (n.*2638C>G) c.3273C>G (p.Val1091=) c.3894C>G (p.Val1298=) c.3561C>G (p.Val1187=) c.3642C>G (p.Val1214=) n.1135C>G c.3660C>G (p.Val1220=) n.4033C>G n.760C>G c.2829C>G (p.Val943=) c.2604C>G (p.Val868=) c.3699C>G (p.Val1233=) c.1672C>G c.*995C>G (n.*995C>G) n.4638C>G n.3239C>G c.3750C>G (p.Val1250=) c.3798C>G (p.Val1266=) c.3858C>G (p.Val1286=) c.3408C>G (p.Val1136=) c.1710C>G (p.Val570=) c.1527C>G (p.Val509=) c.3759C>G (p.Val1253=) c.3711C>G (p.Val1237=) c.3480C>G (p.Val1160=) c.3381C>G (p.Val1127=) c.2562C>G (p.Val854=) n.4113C>G | |
| 13 | g.51937485G= | CA2091553685 | ATP7B | c.*1544C= (n.*1544C=) c.*2638C= (n.*2638C=) c.3273C= (p.Val1091=) c.3894C= (p.Val1298=) c.3561C= (p.Val1187=) c.3642C= (p.Val1214=) n.1135C= c.3660C= (p.Val1220=) n.4033C= n.760C= c.2829C= (p.Val943=) c.2604C= (p.Val868=) c.3699C= (p.Val1233=) c.1672C= c.*995C= (n.*995C=) n.4638C= n.3239C= c.3750C= (p.Val1250=) c.3798C= (p.Val1266=) c.3858C= (p.Val1286=) c.3408C= (p.Val1136=) c.1710C= (p.Val570=) c.1527C= (p.Val509=) c.3759C= (p.Val1253=) c.3711C= (p.Val1237=) c.3480C= (p.Val1160=) c.3381C= (p.Val1127=) c.2562C= (p.Val854=) n.4113C= | |
| 13 | g.51937485G>T | CA484024275 | ATP7B | c.*1544C>A (n.*1544C>A) c.*2638C>A (n.*2638C>A) c.3273C>A (p.Val1091=) c.3894C>A (p.Val1298=) c.3561C>A (p.Val1187=) c.3642C>A (p.Val1214=) n.1135C>A c.3660C>A (p.Val1220=) n.4033C>A n.760C>A c.2829C>A (p.Val943=) c.2604C>A (p.Val868=) c.3699C>A (p.Val1233=) c.1672C>A c.*995C>A (n.*995C>A) n.4638C>A n.3239C>A c.3750C>A (p.Val1250=) c.3798C>A (p.Val1266=) c.3858C>A (p.Val1286=) c.3408C>A (p.Val1136=) c.1710C>A (p.Val570=) c.1527C>A (p.Val509=) c.3759C>A (p.Val1253=) c.3711C>A (p.Val1237=) c.3480C>A (p.Val1160=) c.3381C>A (p.Val1127=) c.2562C>A (p.Val854=) n.4113C>A | |
| 13 | g.51937489_51937491del | CA2580614733 | ATP7B | c.*1542_*1544del (n.*1542_*1544del) c.*2636_*2638del (n.*2636_*2638del) c.3271_3273del (p.Val1091del) c.3892_3894del (p.Val1298del) c.3559_3561del (p.Val1187del) c.3640_3642del (p.Val1214del) n.1133_1135del c.3658_3660del (p.Val1220del) n.4031_4033del n.758_760del c.2827_2829del (p.Val943del) c.2602_2604del (p.Val868del) c.3697_3699del (p.Val1233del) c.1670_1672del c.*993_*995del (n.*993_*995del) n.4636_4638del n.3237_3239del c.3748_3750del (p.Val1250del) c.3796_3798del (p.Val1266del) c.3856_3858del (p.Val1286del) c.3406_3408del (p.Val1136del) c.1708_1710del (p.Val570del) c.1525_1527del (p.Val509del) c.3757_3759del (p.Val1253del) c.3709_3711del (p.Val1237del) c.3478_3480del (p.Val1160del) c.3379_3381del (p.Val1127del) c.2560_2562del (p.Val854del) n.4111_4113del | dbSNP gnomAD v4 |
| 13 | g.51937486A>C | CA388021388 | ATP7B | c.*1543T>G (n.*1543T>G) c.*2637T>G (n.*2637T>G) c.3272T>G (p.Val1091Gly) c.3893T>G (p.Val1298Gly) c.3560T>G (p.Val1187Gly) c.3641T>G (p.Val1214Gly) n.1134T>G c.3659T>G (p.Val1220Gly) n.4032T>G n.759T>G c.2828T>G (p.Val943Gly) c.2603T>G (p.Val868Gly) c.3698T>G (p.Val1233Gly) c.1671T>G c.*994T>G (n.*994T>G) n.4637T>G n.3238T>G c.3749T>G (p.Val1250Gly) c.3797T>G (p.Val1266Gly) c.3857T>G (p.Val1286Gly) c.3407T>G (p.Val1136Gly) c.1709T>G (p.Val570Gly) c.1526T>G (p.Val509Gly) c.3758T>G (p.Val1253Gly) c.3710T>G (p.Val1237Gly) c.3479T>G (p.Val1160Gly) c.3380T>G (p.Val1127Gly) c.2561T>G (p.Val854Gly) n.4112T>G | |
| 13 | g.51937486A>G | CA388021390 | ATP7B | c.*1543T>C (n.*1543T>C) c.*2637T>C (n.*2637T>C) c.3272T>C (p.Val1091Ala) c.3893T>C (p.Val1298Ala) c.3560T>C (p.Val1187Ala) c.3641T>C (p.Val1214Ala) n.1134T>C c.3659T>C (p.Val1220Ala) n.4032T>C n.759T>C c.2828T>C (p.Val943Ala) c.2603T>C (p.Val868Ala) c.3698T>C (p.Val1233Ala) c.1671T>C c.*994T>C (n.*994T>C) n.4637T>C n.3238T>C c.3749T>C (p.Val1250Ala) c.3797T>C (p.Val1266Ala) c.3857T>C (p.Val1286Ala) c.3407T>C (p.Val1136Ala) c.1709T>C (p.Val570Ala) c.1526T>C (p.Val509Ala) c.3758T>C (p.Val1253Ala) c.3710T>C (p.Val1237Ala) c.3479T>C (p.Val1160Ala) c.3380T>C (p.Val1127Ala) c.2561T>C (p.Val854Ala) n.4112T>C | |
| 13 | g.51937486A>T | CA388021392 | ATP7B | c.*1543T>A (n.*1543T>A) c.*2637T>A (n.*2637T>A) c.3272T>A (p.Val1091Asp) c.3893T>A (p.Val1298Asp) c.3560T>A (p.Val1187Asp) c.3641T>A (p.Val1214Asp) n.1134T>A c.3659T>A (p.Val1220Asp) n.4032T>A n.759T>A c.2828T>A (p.Val943Asp) c.2603T>A (p.Val868Asp) c.3698T>A (p.Val1233Asp) c.1671T>A c.*994T>A (n.*994T>A) n.4637T>A n.3238T>A c.3749T>A (p.Val1250Asp) c.3797T>A (p.Val1266Asp) c.3857T>A (p.Val1286Asp) c.3407T>A (p.Val1136Asp) c.1709T>A (p.Val570Asp) c.1526T>A (p.Val509Asp) c.3758T>A (p.Val1253Asp) c.3710T>A (p.Val1237Asp) c.3479T>A (p.Val1160Asp) c.3380T>A (p.Val1127Asp) c.2561T>A (p.Val854Asp) n.4112T>A | |
| 13 | g.51937487C>A | CA388021395 | ATP7B | c.*1542G>T (n.*1542G>T) c.*2636G>T (n.*2636G>T) c.3271G>T (p.Val1091Phe) c.3892G>T (p.Val1298Phe) c.3559G>T (p.Val1187Phe) c.3640G>T (p.Val1214Phe) n.1133G>T c.3658G>T (p.Val1220Phe) n.4031G>T n.758G>T c.2827G>T (p.Val943Phe) c.2602G>T (p.Val868Phe) c.3697G>T (p.Val1233Phe) c.1670G>T c.*993G>T (n.*993G>T) n.4636G>T n.3237G>T c.3748G>T (p.Val1250Phe) c.3796G>T (p.Val1266Phe) c.3856G>T (p.Val1286Phe) c.3406G>T (p.Val1136Phe) c.1708G>T (p.Val570Phe) c.1525G>T (p.Val509Phe) c.3757G>T (p.Val1253Phe) c.3709G>T (p.Val1237Phe) c.3478G>T (p.Val1160Phe) c.3379G>T (p.Val1127Phe) c.2560G>T (p.Val854Phe) n.4111G>T | |
| 13 | g.51937487C= | CA2091553693 | ATP7B | c.*1542G= (n.*1542G=) c.*2636G= (n.*2636G=) c.3271G= (p.Val1091=) c.3892G= (p.Val1298=) c.3559G= (p.Val1187=) c.3640G= (p.Val1214=) n.1133G= c.3658G= (p.Val1220=) n.4031G= n.758G= c.2827G= (p.Val943=) c.2602G= (p.Val868=) c.3697G= (p.Val1233=) c.1670G= c.*993G= (n.*993G=) n.4636G= n.3237G= c.3748G= (p.Val1250=) c.3796G= (p.Val1266=) c.3856G= (p.Val1286=) c.3406G= (p.Val1136=) c.1708G= (p.Val570=) c.1525G= (p.Val509=) c.3757G= (p.Val1253=) c.3709G= (p.Val1237=) c.3478G= (p.Val1160=) c.3379G= (p.Val1127=) c.2560G= (p.Val854=) n.4111G= | |
| 13 | g.51937487C>G | CA388021398 | ATP7B | c.*1542G>C (n.*1542G>C) c.*2636G>C (n.*2636G>C) c.3271G>C (p.Val1091Leu) c.3892G>C (p.Val1298Leu) c.3559G>C (p.Val1187Leu) c.3640G>C (p.Val1214Leu) n.1133G>C c.3658G>C (p.Val1220Leu) n.4031G>C n.758G>C c.2827G>C (p.Val943Leu) c.2602G>C (p.Val868Leu) c.3697G>C (p.Val1233Leu) c.1670G>C c.*993G>C (n.*993G>C) n.4636G>C n.3237G>C c.3748G>C (p.Val1250Leu) c.3796G>C (p.Val1266Leu) c.3856G>C (p.Val1286Leu) c.3406G>C (p.Val1136Leu) c.1708G>C (p.Val570Leu) c.1525G>C (p.Val509Leu) c.3757G>C (p.Val1253Leu) c.3709G>C (p.Val1237Leu) c.3478G>C (p.Val1160Leu) c.3379G>C (p.Val1127Leu) c.2560G>C (p.Val854Leu) n.4111G>C | gnomAD v4 |
| 13 | g.51937487C>T | CA250073505 | ATP7B | c.*1542G>A (n.*1542G>A) c.*2636G>A (n.*2636G>A) c.3271G>A (p.Val1091Ile) c.3892G>A (p.Val1298Ile) c.3559G>A (p.Val1187Ile) c.3640G>A (p.Val1214Ile) n.1133G>A c.3658G>A (p.Val1220Ile) n.4031G>A n.758G>A c.2827G>A (p.Val943Ile) c.2602G>A (p.Val868Ile) c.3697G>A (p.Val1233Ile) c.1670G>A c.*993G>A (n.*993G>A) n.4636G>A n.3237G>A c.3748G>A (p.Val1250Ile) c.3796G>A (p.Val1266Ile) c.3856G>A (p.Val1286Ile) c.3406G>A (p.Val1136Ile) c.1708G>A (p.Val570Ile) c.1525G>A (p.Val509Ile) c.3757G>A (p.Val1253Ile) c.3709G>A (p.Val1237Ile) c.3478G>A (p.Val1160Ile) c.3379G>A (p.Val1127Ile) c.2560G>A (p.Val854Ile) n.4111G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937487_51937496delinsTG | CA2695218744 | ATP7B | c.*1533_*1542delinsCA (n.*1533_*1542delinsCA) c.*2627_*2636delinsCA (n.*2627_*2636delinsCA) c.3262_3271delinsCA (p.Ala1088HisfsTer6) c.3883_3892delinsCA (p.Ala1295HisfsTer6) c.3550_3559delinsCA (p.Ala1184HisfsTer6) c.3631_3640delinsCA (p.Ala1211HisfsTer6) n.1124_1133delinsCA c.3649_3658delinsCA (p.Ala1217HisfsTer6) n.4022_4031delinsCA n.749_758delinsCA c.2818_2827delinsCA (p.Ala940HisfsTer6) c.2593_2602delinsCA (p.Ala865HisfsTer6) c.3688_3697delinsCA (p.Ala1230HisfsTer6) c.1661_1670delinsCA c.*984_*993delinsCA (n.*984_*993delinsCA) n.4627_4636delinsCA n.3228_3237delinsCA c.3739_3748delinsCA (p.Ala1247HisfsTer6) c.3787_3796delinsCA (p.Ala1263HisfsTer6) c.3847_3856delinsCA (p.Ala1283HisfsTer6) c.3397_3406delinsCA (p.Ala1133HisfsTer6) c.1699_1708delinsCA (p.Ala567HisfsTer6) c.1516_1525delinsCA (p.Ala506HisfsTer6) c.3748_3757delinsCA (p.Ala1250HisfsTer6) c.3700_3709delinsCA (p.Ala1234HisfsTer6) c.3469_3478delinsCA (p.Ala1157HisfsTer6) c.3370_3379delinsCA (p.Ala1124HisfsTer6) c.2551_2560delinsCA (p.Ala851HisfsTer6) n.4102_4111delinsCA | |
| 13 | g.51937488G>A | CA171324 | ATP7B | c.*1541C>T (n.*1541C>T) c.*2635C>T (n.*2635C>T) c.3270C>T (p.Val1090=) c.3891C>T (p.Val1297=) c.3558C>T (p.Val1186=) c.3639C>T (p.Val1213=) n.1132C>T c.3657C>T (p.Val1219=) n.4030C>T n.757C>T c.2826C>T (p.Val942=) c.2601C>T (p.Val867=) c.3696C>T (p.Val1232=) c.1669C>T c.*992C>T (n.*992C>T) n.4635C>T n.3236C>T c.3747C>T (p.Val1249=) c.3795C>T (p.Val1265=) c.3855C>T (p.Val1285=) c.3405C>T (p.Val1135=) c.1707C>T (p.Val569=) c.1524C>T (p.Val508=) c.3756C>T (p.Val1252=) c.3708C>T (p.Val1236=) c.3477C>T (p.Val1159=) c.3378C>T (p.Val1126=) c.2559C>T (p.Val853=) n.4110C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937488G>C | CA484024277 | ATP7B | c.*1541C>G (n.*1541C>G) c.*2635C>G (n.*2635C>G) c.3270C>G (p.Val1090=) c.3891C>G (p.Val1297=) c.3558C>G (p.Val1186=) c.3639C>G (p.Val1213=) n.1132C>G c.3657C>G (p.Val1219=) n.4030C>G n.757C>G c.2826C>G (p.Val942=) c.2601C>G (p.Val867=) c.3696C>G (p.Val1232=) c.1669C>G c.*992C>G (n.*992C>G) n.4635C>G n.3236C>G c.3747C>G (p.Val1249=) c.3795C>G (p.Val1265=) c.3855C>G (p.Val1285=) c.3405C>G (p.Val1135=) c.1707C>G (p.Val569=) c.1524C>G (p.Val508=) c.3756C>G (p.Val1252=) c.3708C>G (p.Val1236=) c.3477C>G (p.Val1159=) c.3378C>G (p.Val1126=) c.2559C>G (p.Val853=) n.4110C>G | dbSNP |
| 13 | g.51937488G= | CA2091553710 | ATP7B | c.*1541C= (n.*1541C=) c.*2635C= (n.*2635C=) c.3270C= (p.Val1090=) c.3891C= (p.Val1297=) c.3558C= (p.Val1186=) c.3639C= (p.Val1213=) n.1132C= c.3657C= (p.Val1219=) n.4030C= n.757C= c.2826C= (p.Val942=) c.2601C= (p.Val867=) c.3696C= (p.Val1232=) c.1669C= c.*992C= (n.*992C=) n.4635C= n.3236C= c.3747C= (p.Val1249=) c.3795C= (p.Val1265=) c.3855C= (p.Val1285=) c.3405C= (p.Val1135=) c.1707C= (p.Val569=) c.1524C= (p.Val508=) c.3756C= (p.Val1252=) c.3708C= (p.Val1236=) c.3477C= (p.Val1159=) c.3378C= (p.Val1126=) c.2559C= (p.Val853=) n.4110C= | |
| 13 | g.51937488G>T | CA484024276 | ATP7B | c.*1541C>A (n.*1541C>A) c.*2635C>A (n.*2635C>A) c.3270C>A (p.Val1090=) c.3891C>A (p.Val1297=) c.3558C>A (p.Val1186=) c.3639C>A (p.Val1213=) n.1132C>A c.3657C>A (p.Val1219=) n.4030C>A n.757C>A c.2826C>A (p.Val942=) c.2601C>A (p.Val867=) c.3696C>A (p.Val1232=) c.1669C>A c.*992C>A (n.*992C>A) n.4635C>A n.3236C>A c.3747C>A (p.Val1249=) c.3795C>A (p.Val1265=) c.3855C>A (p.Val1285=) c.3405C>A (p.Val1135=) c.1707C>A (p.Val569=) c.1524C>A (p.Val508=) c.3756C>A (p.Val1252=) c.3708C>A (p.Val1236=) c.3477C>A (p.Val1159=) c.3378C>A (p.Val1126=) c.2559C>A (p.Val853=) n.4110C>A | |
| 13 | g.51937489A>C | CA388021408 | ATP7B | c.*1540T>G (n.*1540T>G) c.*2634T>G (n.*2634T>G) c.3269T>G (p.Val1090Gly) c.3890T>G (p.Val1297Gly) c.3557T>G (p.Val1186Gly) c.3638T>G (p.Val1213Gly) n.1131T>G c.3656T>G (p.Val1219Gly) n.4029T>G n.756T>G c.2825T>G (p.Val942Gly) c.2600T>G (p.Val867Gly) c.3695T>G (p.Val1232Gly) c.1668T>G c.*991T>G (n.*991T>G) n.4634T>G n.3235T>G c.3746T>G (p.Val1249Gly) c.3794T>G (p.Val1265Gly) c.3854T>G (p.Val1285Gly) c.3404T>G (p.Val1135Gly) c.1706T>G (p.Val569Gly) c.1523T>G (p.Val508Gly) c.3755T>G (p.Val1252Gly) c.3707T>G (p.Val1236Gly) c.3476T>G (p.Val1159Gly) c.3377T>G (p.Val1126Gly) c.2558T>G (p.Val853Gly) n.4109T>G | |
| 13 | g.51937489A>G | CA388021406 | ATP7B | c.*1540T>C (n.*1540T>C) c.*2634T>C (n.*2634T>C) c.3269T>C (p.Val1090Ala) c.3890T>C (p.Val1297Ala) c.3557T>C (p.Val1186Ala) c.3638T>C (p.Val1213Ala) n.1131T>C c.3656T>C (p.Val1219Ala) n.4029T>C n.756T>C c.2825T>C (p.Val942Ala) c.2600T>C (p.Val867Ala) c.3695T>C (p.Val1232Ala) c.1668T>C c.*991T>C (n.*991T>C) n.4634T>C n.3235T>C c.3746T>C (p.Val1249Ala) c.3794T>C (p.Val1265Ala) c.3854T>C (p.Val1285Ala) c.3404T>C (p.Val1135Ala) c.1706T>C (p.Val569Ala) c.1523T>C (p.Val508Ala) c.3755T>C (p.Val1252Ala) c.3707T>C (p.Val1236Ala) c.3476T>C (p.Val1159Ala) c.3377T>C (p.Val1126Ala) c.2558T>C (p.Val853Ala) n.4109T>C | gnomAD v4 |
| 13 | g.51937489A>T | CA388021404 | ATP7B | c.*1540T>A (n.*1540T>A) c.*2634T>A (n.*2634T>A) c.3269T>A (p.Val1090Asp) c.3890T>A (p.Val1297Asp) c.3557T>A (p.Val1186Asp) c.3638T>A (p.Val1213Asp) n.1131T>A c.3656T>A (p.Val1219Asp) n.4029T>A n.756T>A c.2825T>A (p.Val942Asp) c.2600T>A (p.Val867Asp) c.3695T>A (p.Val1232Asp) c.1668T>A c.*991T>A (n.*991T>A) n.4634T>A n.3235T>A c.3746T>A (p.Val1249Asp) c.3794T>A (p.Val1265Asp) c.3854T>A (p.Val1285Asp) c.3404T>A (p.Val1135Asp) c.1706T>A (p.Val569Asp) c.1523T>A (p.Val508Asp) c.3755T>A (p.Val1252Asp) c.3707T>A (p.Val1236Asp) c.3476T>A (p.Val1159Asp) c.3377T>A (p.Val1126Asp) c.2558T>A (p.Val853Asp) n.4109T>A | |
| 13 | g.51937489_51937496del | CA2573149694 | ATP7B | c.*1533_*1540del (n.*1533_*1540del) c.*2627_*2634del (n.*2627_*2634del) c.3262_3269del (p.Ala1088ArgfsTer6) c.3883_3890del (p.Ala1295ArgfsTer6) c.3550_3557del (p.Ala1184ArgfsTer6) c.3631_3638del (p.Ala1211ArgfsTer6) n.1124_1131del c.3649_3656del (p.Ala1217ArgfsTer6) n.4022_4029del n.749_756del c.2818_2825del (p.Ala940ArgfsTer6) c.2593_2600del (p.Ala865ArgfsTer6) c.3688_3695del (p.Ala1230ArgfsTer6) c.1661_1668del c.*984_*991del (n.*984_*991del) n.4627_4634del n.3228_3235del c.3739_3746del (p.Ala1247ArgfsTer6) c.3787_3794del (p.Ala1263ArgfsTer6) c.3847_3854del (p.Ala1283ArgfsTer6) c.3397_3404del (p.Ala1133ArgfsTer6) c.1699_1706del (p.Ala567ArgfsTer6) c.1516_1523del (p.Ala506ArgfsTer6) c.3748_3755del (p.Ala1250ArgfsTer6) c.3700_3707del (p.Ala1234ArgfsTer6) c.3469_3476del (p.Ala1157ArgfsTer6) c.3370_3377del (p.Ala1124ArgfsTer6) c.2551_2558del (p.Ala851ArgfsTer6) n.4102_4109del | ClinVar dbSNP |
| 13 | g.51937490C>A | CA388021410 | ATP7B | c.*1539G>T (n.*1539G>T) c.*2633G>T (n.*2633G>T) c.3268G>T (p.Val1090Phe) c.3889G>T (p.Val1297Phe) c.3556G>T (p.Val1186Phe) c.3637G>T (p.Val1213Phe) n.1130G>T c.3655G>T (p.Val1219Phe) n.4028G>T n.755G>T c.2824G>T (p.Val942Phe) c.2599G>T (p.Val867Phe) c.3694G>T (p.Val1232Phe) c.1667G>T c.*990G>T (n.*990G>T) n.4633G>T n.3234G>T c.3745G>T (p.Val1249Phe) c.3793G>T (p.Val1265Phe) c.3853G>T (p.Val1285Phe) c.3403G>T (p.Val1135Phe) c.1705G>T (p.Val569Phe) c.1522G>T (p.Val508Phe) c.3754G>T (p.Val1252Phe) c.3706G>T (p.Val1236Phe) c.3475G>T (p.Val1159Phe) c.3376G>T (p.Val1126Phe) c.2557G>T (p.Val853Phe) n.4108G>T | |
| 13 | g.51937490C= | CA2091553720 | ATP7B | c.*1539G= (n.*1539G=) c.*2633G= (n.*2633G=) c.3268G= (p.Val1090=) c.3889G= (p.Val1297=) c.3556G= (p.Val1186=) c.3637G= (p.Val1213=) n.1130G= c.3655G= (p.Val1219=) n.4028G= n.755G= c.2824G= (p.Val942=) c.2599G= (p.Val867=) c.3694G= (p.Val1232=) c.1667G= c.*990G= (n.*990G=) n.4633G= n.3234G= c.3745G= (p.Val1249=) c.3793G= (p.Val1265=) c.3853G= (p.Val1285=) c.3403G= (p.Val1135=) c.1705G= (p.Val569=) c.1522G= (p.Val508=) c.3754G= (p.Val1252=) c.3706G= (p.Val1236=) c.3475G= (p.Val1159=) c.3376G= (p.Val1126=) c.2557G= (p.Val853=) n.4108G= | |
| 13 | g.51937490C>G | CA388021412 | ATP7B | c.*1539G>C (n.*1539G>C) c.*2633G>C (n.*2633G>C) c.3268G>C (p.Val1090Leu) c.3889G>C (p.Val1297Leu) c.3556G>C (p.Val1186Leu) c.3637G>C (p.Val1213Leu) n.1130G>C c.3655G>C (p.Val1219Leu) n.4028G>C n.755G>C c.2824G>C (p.Val942Leu) c.2599G>C (p.Val867Leu) c.3694G>C (p.Val1232Leu) c.1667G>C c.*990G>C (n.*990G>C) n.4633G>C n.3234G>C c.3745G>C (p.Val1249Leu) c.3793G>C (p.Val1265Leu) c.3853G>C (p.Val1285Leu) c.3403G>C (p.Val1135Leu) c.1705G>C (p.Val569Leu) c.1522G>C (p.Val508Leu) c.3754G>C (p.Val1252Leu) c.3706G>C (p.Val1236Leu) c.3475G>C (p.Val1159Leu) c.3376G>C (p.Val1126Leu) c.2557G>C (p.Val853Leu) n.4108G>C | |
| 13 | g.51937490C>T | CA145689 | ATP7B | c.*1539G>A (n.*1539G>A) c.*2633G>A (n.*2633G>A) c.3268G>A (p.Val1090Ile) c.3889G>A (p.Val1297Ile) c.3556G>A (p.Val1186Ile) c.3637G>A (p.Val1213Ile) n.1130G>A c.3655G>A (p.Val1219Ile) n.4028G>A n.755G>A c.2824G>A (p.Val942Ile) c.2599G>A (p.Val867Ile) c.3694G>A (p.Val1232Ile) c.1667G>A c.*990G>A (n.*990G>A) n.4633G>A n.3234G>A c.3745G>A (p.Val1249Ile) c.3793G>A (p.Val1265Ile) c.3853G>A (p.Val1285Ile) c.3403G>A (p.Val1135Ile) c.1705G>A (p.Val569Ile) c.1522G>A (p.Val508Ile) c.3754G>A (p.Val1252Ile) c.3706G>A (p.Val1236Ile) c.3475G>A (p.Val1159Ile) c.3376G>A (p.Val1126Ile) c.2557G>A (p.Val853Ile) n.4108G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937491del | CA2695218746 | ATP7B | c.*1538del (n.*1538del) c.*2632del (n.*2632del) c.3267del (p.Asp1089GlufsTer?) c.3888del (p.Asp1296GlufsTer?) c.3555del (p.Asp1185GlufsTer?) c.3636del (p.Asp1212GlufsTer?) n.1129del c.3654del (p.Asp1218GlufsTer?) n.4027del n.754del c.2823del (p.Asp941GlufsTer?) c.2598del (p.Asp866GlufsTer?) c.3693del (p.Asp1231GlufsTer?) c.1666del c.*989del (n.*989del) n.4632del n.3233del c.3744del (p.Asp1248GlufsTer?) c.3792del (p.Asp1264GlufsTer?) c.3852del (p.Asp1284GlufsTer?) c.3402del (p.Asp1134GlufsTer?) c.1704del (p.Asp568GlufsTer?) c.1521del (p.Asp507GlufsTer?) c.3753del (p.Asp1251GlufsTer?) c.3705del (p.Asp1235GlufsTer?) c.3474del (p.Asp1158GlufsTer?) c.3375del (p.Asp1125GlufsTer?) c.2556del (p.Asp852GlufsTer?) n.4107del | |
| 13 | g.51937491G>A | CA6988549 | ATP7B | c.*1538C>T (n.*1538C>T) c.*2632C>T (n.*2632C>T) c.3267C>T (p.Asp1089=) c.3888C>T (p.Asp1296=) c.3555C>T (p.Asp1185=) c.3636C>T (p.Asp1212=) n.1129C>T c.3654C>T (p.Asp1218=) n.4027C>T n.754C>T c.2823C>T (p.Asp941=) c.2598C>T (p.Asp866=) c.3693C>T (p.Asp1231=) c.1666C>T c.*989C>T (n.*989C>T) n.4632C>T n.3233C>T c.3744C>T (p.Asp1248=) c.3792C>T (p.Asp1264=) c.3852C>T (p.Asp1284=) c.3402C>T (p.Asp1134=) c.1704C>T (p.Asp568=) c.1521C>T (p.Asp507=) c.3753C>T (p.Asp1251=) c.3705C>T (p.Asp1235=) c.3474C>T (p.Asp1158=) c.3375C>T (p.Asp1125=) c.2556C>T (p.Asp852=) n.4107C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937491G>C | CA388021418 | ATP7B | c.*1538C>G (n.*1538C>G) c.*2632C>G (n.*2632C>G) c.3267C>G (p.Asp1089Glu) c.3888C>G (p.Asp1296Glu) c.3555C>G (p.Asp1185Glu) c.3636C>G (p.Asp1212Glu) n.1129C>G c.3654C>G (p.Asp1218Glu) n.4027C>G n.754C>G c.2823C>G (p.Asp941Glu) c.2598C>G (p.Asp866Glu) c.3693C>G (p.Asp1231Glu) c.1666C>G c.*989C>G (n.*989C>G) n.4632C>G n.3233C>G c.3744C>G (p.Asp1248Glu) c.3792C>G (p.Asp1264Glu) c.3852C>G (p.Asp1284Glu) c.3402C>G (p.Asp1134Glu) c.1704C>G (p.Asp568Glu) c.1521C>G (p.Asp507Glu) c.3753C>G (p.Asp1251Glu) c.3705C>G (p.Asp1235Glu) c.3474C>G (p.Asp1158Glu) c.3375C>G (p.Asp1125Glu) c.2556C>G (p.Asp852Glu) n.4107C>G | |
| 13 | g.51937491G= | CA2091553732 | ATP7B | c.*1538C= (n.*1538C=) c.*2632C= (n.*2632C=) c.3267C= (p.Asp1089=) c.3888C= (p.Asp1296=) c.3555C= (p.Asp1185=) c.3636C= (p.Asp1212=) n.1129C= c.3654C= (p.Asp1218=) n.4027C= n.754C= c.2823C= (p.Asp941=) c.2598C= (p.Asp866=) c.3693C= (p.Asp1231=) c.1666C= c.*989C= (n.*989C=) n.4632C= n.3233C= c.3744C= (p.Asp1248=) c.3792C= (p.Asp1264=) c.3852C= (p.Asp1284=) c.3402C= (p.Asp1134=) c.1704C= (p.Asp568=) c.1521C= (p.Asp507=) c.3753C= (p.Asp1251=) c.3705C= (p.Asp1235=) c.3474C= (p.Asp1158=) c.3375C= (p.Asp1125=) c.2556C= (p.Asp852=) n.4107C= | |
| 13 | g.51937491G>T | CA388021420 | ATP7B | c.*1538C>A (n.*1538C>A) c.*2632C>A (n.*2632C>A) c.3267C>A (p.Asp1089Glu) c.3888C>A (p.Asp1296Glu) c.3555C>A (p.Asp1185Glu) c.3636C>A (p.Asp1212Glu) n.1129C>A c.3654C>A (p.Asp1218Glu) n.4027C>A n.754C>A c.2823C>A (p.Asp941Glu) c.2598C>A (p.Asp866Glu) c.3693C>A (p.Asp1231Glu) c.1666C>A c.*989C>A (n.*989C>A) n.4632C>A n.3233C>A c.3744C>A (p.Asp1248Glu) c.3792C>A (p.Asp1264Glu) c.3852C>A (p.Asp1284Glu) c.3402C>A (p.Asp1134Glu) c.1704C>A (p.Asp568Glu) c.1521C>A (p.Asp507Glu) c.3753C>A (p.Asp1251Glu) c.3705C>A (p.Asp1235Glu) c.3474C>A (p.Asp1158Glu) c.3375C>A (p.Asp1125Glu) c.2556C>A (p.Asp852Glu) n.4107C>A | gnomAD v4 |
| 13 | g.51937492T>A | CA388021424 | ATP7B | c.*1537A>T (n.*1537A>T) c.*2631A>T (n.*2631A>T) c.3266A>T (p.Asp1089Val) c.3887A>T (p.Asp1296Val) c.3554A>T (p.Asp1185Val) c.3635A>T (p.Asp1212Val) n.1128A>T c.3653A>T (p.Asp1218Val) n.4026A>T n.753A>T c.2822A>T (p.Asp941Val) c.2597A>T (p.Asp866Val) c.3692A>T (p.Asp1231Val) c.1665A>T c.*988A>T (n.*988A>T) n.4631A>T n.3232A>T c.3743A>T (p.Asp1248Val) c.3791A>T (p.Asp1264Val) c.3851A>T (p.Asp1284Val) c.3401A>T (p.Asp1134Val) c.1703A>T (p.Asp568Val) c.1520A>T (p.Asp507Val) c.3752A>T (p.Asp1251Val) c.3704A>T (p.Asp1235Val) c.3473A>T (p.Asp1158Val) c.3374A>T (p.Asp1125Val) c.2555A>T (p.Asp852Val) n.4106A>T | |
| 13 | g.51937492T>C | CA388021427 | ATP7B | c.*1537A>G (n.*1537A>G) c.*2631A>G (n.*2631A>G) c.3266A>G (p.Asp1089Gly) c.3887A>G (p.Asp1296Gly) c.3554A>G (p.Asp1185Gly) c.3635A>G (p.Asp1212Gly) n.1128A>G c.3653A>G (p.Asp1218Gly) n.4026A>G n.753A>G c.2822A>G (p.Asp941Gly) c.2597A>G (p.Asp866Gly) c.3692A>G (p.Asp1231Gly) c.1665A>G c.*988A>G (n.*988A>G) n.4631A>G n.3232A>G c.3743A>G (p.Asp1248Gly) c.3791A>G (p.Asp1264Gly) c.3851A>G (p.Asp1284Gly) c.3401A>G (p.Asp1134Gly) c.1703A>G (p.Asp568Gly) c.1520A>G (p.Asp507Gly) c.3752A>G (p.Asp1251Gly) c.3704A>G (p.Asp1235Gly) c.3473A>G (p.Asp1158Gly) c.3374A>G (p.Asp1125Gly) c.2555A>G (p.Asp852Gly) n.4106A>G | ClinVar dbSNP |
| 13 | g.51937492T>G | CA388021429 | ATP7B | c.*1537A>C (n.*1537A>C) c.*2631A>C (n.*2631A>C) c.3266A>C (p.Asp1089Ala) c.3887A>C (p.Asp1296Ala) c.3554A>C (p.Asp1185Ala) c.3635A>C (p.Asp1212Ala) n.1128A>C c.3653A>C (p.Asp1218Ala) n.4026A>C n.753A>C c.2822A>C (p.Asp941Ala) c.2597A>C (p.Asp866Ala) c.3692A>C (p.Asp1231Ala) c.1665A>C c.*988A>C (n.*988A>C) n.4631A>C n.3232A>C c.3743A>C (p.Asp1248Ala) c.3791A>C (p.Asp1264Ala) c.3851A>C (p.Asp1284Ala) c.3401A>C (p.Asp1134Ala) c.1703A>C (p.Asp568Ala) c.1520A>C (p.Asp507Ala) c.3752A>C (p.Asp1251Ala) c.3704A>C (p.Asp1235Ala) c.3473A>C (p.Asp1158Ala) c.3374A>C (p.Asp1125Ala) c.2555A>C (p.Asp852Ala) n.4106A>C | |
| 13 | g.51937492T= | CA2091553745 | ATP7B | c.*1537A= (n.*1537A=) c.*2631A= (n.*2631A=) c.3266A= (p.Asp1089=) c.3887A= (p.Asp1296=) c.3554A= (p.Asp1185=) c.3635A= (p.Asp1212=) n.1128A= c.3653A= (p.Asp1218=) n.4026A= n.753A= c.2822A= (p.Asp941=) c.2597A= (p.Asp866=) c.3692A= (p.Asp1231=) c.1665A= c.*988A= (n.*988A=) n.4631A= n.3232A= c.3743A= (p.Asp1248=) c.3791A= (p.Asp1264=) c.3851A= (p.Asp1284=) c.3401A= (p.Asp1134=) c.1703A= (p.Asp568=) c.1520A= (p.Asp507=) c.3752A= (p.Asp1251=) c.3704A= (p.Asp1235=) c.3473A= (p.Asp1158=) c.3374A= (p.Asp1125=) c.2555A= (p.Asp852=) n.4106A= | |
| 13 | g.51937493C>A | CA388021431 | ATP7B | c.*1536G>T (n.*1536G>T) c.*2630G>T (n.*2630G>T) c.3265G>T (p.Asp1089Tyr) c.3886G>T (p.Asp1296Tyr) c.3553G>T (p.Asp1185Tyr) c.3634G>T (p.Asp1212Tyr) n.1127G>T c.3652G>T (p.Asp1218Tyr) n.4025G>T n.752G>T c.2821G>T (p.Asp941Tyr) c.2596G>T (p.Asp866Tyr) c.3691G>T (p.Asp1231Tyr) c.1664G>T c.*987G>T (n.*987G>T) n.4630G>T n.3231G>T c.3742G>T (p.Asp1248Tyr) c.3790G>T (p.Asp1264Tyr) c.3850G>T (p.Asp1284Tyr) c.3400G>T (p.Asp1134Tyr) c.1702G>T (p.Asp568Tyr) c.1519G>T (p.Asp507Tyr) c.3751G>T (p.Asp1251Tyr) c.3703G>T (p.Asp1235Tyr) c.3472G>T (p.Asp1158Tyr) c.3373G>T (p.Asp1125Tyr) c.2554G>T (p.Asp852Tyr) n.4105G>T | |
| 13 | g.51937493C= | CA2091553755 | ATP7B | c.*1536G= (n.*1536G=) c.*2630G= (n.*2630G=) c.3265G= (p.Asp1089=) c.3886G= (p.Asp1296=) c.3553G= (p.Asp1185=) c.3634G= (p.Asp1212=) n.1127G= c.3652G= (p.Asp1218=) n.4025G= n.752G= c.2821G= (p.Asp941=) c.2596G= (p.Asp866=) c.3691G= (p.Asp1231=) c.1664G= c.*987G= (n.*987G=) n.4630G= n.3231G= c.3742G= (p.Asp1248=) c.3790G= (p.Asp1264=) c.3850G= (p.Asp1284=) c.3400G= (p.Asp1134=) c.1702G= (p.Asp568=) c.1519G= (p.Asp507=) c.3751G= (p.Asp1251=) c.3703G= (p.Asp1235=) c.3472G= (p.Asp1158=) c.3373G= (p.Asp1125=) c.2554G= (p.Asp852=) n.4105G= | |
| 13 | g.51937493C>G | CA388021433 | ATP7B | c.*1536G>C (n.*1536G>C) c.*2630G>C (n.*2630G>C) c.3265G>C (p.Asp1089His) c.3886G>C (p.Asp1296His) c.3553G>C (p.Asp1185His) c.3634G>C (p.Asp1212His) n.1127G>C c.3652G>C (p.Asp1218His) n.4025G>C n.752G>C c.2821G>C (p.Asp941His) c.2596G>C (p.Asp866His) c.3691G>C (p.Asp1231His) c.1664G>C c.*987G>C (n.*987G>C) n.4630G>C n.3231G>C c.3742G>C (p.Asp1248His) c.3790G>C (p.Asp1264His) c.3850G>C (p.Asp1284His) c.3400G>C (p.Asp1134His) c.1702G>C (p.Asp568His) c.1519G>C (p.Asp507His) c.3751G>C (p.Asp1251His) c.3703G>C (p.Asp1235His) c.3472G>C (p.Asp1158His) c.3373G>C (p.Asp1125His) c.2554G>C (p.Asp852His) n.4105G>C | |
| 13 | g.51937493C>T | CA272855 | ATP7B | c.*1536G>A (n.*1536G>A) c.*2630G>A (n.*2630G>A) c.3265G>A (p.Asp1089Asn) c.3886G>A (p.Asp1296Asn) c.3553G>A (p.Asp1185Asn) c.3634G>A (p.Asp1212Asn) n.1127G>A c.3652G>A (p.Asp1218Asn) n.4025G>A n.752G>A c.2821G>A (p.Asp941Asn) c.2596G>A (p.Asp866Asn) c.3691G>A (p.Asp1231Asn) c.1664G>A c.*987G>A (n.*987G>A) n.4630G>A n.3231G>A c.3742G>A (p.Asp1248Asn) c.3790G>A (p.Asp1264Asn) c.3850G>A (p.Asp1284Asn) c.3400G>A (p.Asp1134Asn) c.1702G>A (p.Asp568Asn) c.1519G>A (p.Asp507Asn) c.3751G>A (p.Asp1251Asn) c.3703G>A (p.Asp1235Asn) c.3472G>A (p.Asp1158Asn) c.3373G>A (p.Asp1125Asn) c.2554G>A (p.Asp852Asn) n.4105G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937494G>A | CA6988550 | ATP7B | c.*1535C>T (n.*1535C>T) c.*2629C>T (n.*2629C>T) c.3264C>T (p.Ala1088=) c.3885C>T (p.Ala1295=) c.3552C>T (p.Ala1184=) c.3633C>T (p.Ala1211=) n.1126C>T c.3651C>T (p.Ala1217=) n.4024C>T n.751C>T c.2820C>T (p.Ala940=) c.2595C>T (p.Ala865=) c.3690C>T (p.Ala1230=) c.1663C>T c.*986C>T (n.*986C>T) n.4629C>T n.3230C>T c.3741C>T (p.Ala1247=) c.3789C>T (p.Ala1263=) c.3849C>T (p.Ala1283=) c.3399C>T (p.Ala1133=) c.1701C>T (p.Ala567=) c.1518C>T (p.Ala506=) c.3750C>T (p.Ala1250=) c.3702C>T (p.Ala1234=) c.3471C>T (p.Ala1157=) c.3372C>T (p.Ala1124=) c.2553C>T (p.Ala851=) n.4104C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937494G>C | CA484024278 | ATP7B | c.*1535C>G (n.*1535C>G) c.*2629C>G (n.*2629C>G) c.3264C>G (p.Ala1088=) c.3885C>G (p.Ala1295=) c.3552C>G (p.Ala1184=) c.3633C>G (p.Ala1211=) n.1126C>G c.3651C>G (p.Ala1217=) n.4024C>G n.751C>G c.2820C>G (p.Ala940=) c.2595C>G (p.Ala865=) c.3690C>G (p.Ala1230=) c.1663C>G c.*986C>G (n.*986C>G) n.4629C>G n.3230C>G c.3741C>G (p.Ala1247=) c.3789C>G (p.Ala1263=) c.3849C>G (p.Ala1283=) c.3399C>G (p.Ala1133=) c.1701C>G (p.Ala567=) c.1518C>G (p.Ala506=) c.3750C>G (p.Ala1250=) c.3702C>G (p.Ala1234=) c.3471C>G (p.Ala1157=) c.3372C>G (p.Ala1124=) c.2553C>G (p.Ala851=) n.4104C>G | |
| 13 | g.51937494G= | CA2091553762 | ATP7B | c.*1535C= (n.*1535C=) c.*2629C= (n.*2629C=) c.3264C= (p.Ala1088=) c.3885C= (p.Ala1295=) c.3552C= (p.Ala1184=) c.3633C= (p.Ala1211=) n.1126C= c.3651C= (p.Ala1217=) n.4024C= n.751C= c.2820C= (p.Ala940=) c.2595C= (p.Ala865=) c.3690C= (p.Ala1230=) c.1663C= c.*986C= (n.*986C=) n.4629C= n.3230C= c.3741C= (p.Ala1247=) c.3789C= (p.Ala1263=) c.3849C= (p.Ala1283=) c.3399C= (p.Ala1133=) c.1701C= (p.Ala567=) c.1518C= (p.Ala506=) c.3750C= (p.Ala1250=) c.3702C= (p.Ala1234=) c.3471C= (p.Ala1157=) c.3372C= (p.Ala1124=) c.2553C= (p.Ala851=) n.4104C= |