WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51937379_51937383dup | CA2580087702 | ATP7B | c.*1564_*1568dup (n.*1564_*1568dup) c.*2658_*2662dup (n.*2658_*2662dup) c.3293_3297dup (p.Val1100TrpfsTer25) c.3914_3918dup (p.Val1307TrpfsTer25) c.3581_3585dup (p.Val1196TrpfsTer25) c.3662_3666dup (p.Val1223TrpfsTer25) n.1237_1241dup c.3680_3684dup (p.Val1229TrpfsTer25) n.4053_4057dup n.780_784dup c.2849_2853dup (p.Val952TrpfsTer25) c.2624_2628dup (p.Val877TrpfsTer25) c.3719_3723dup (p.Val1242TrpfsTer25) c.1692_1696dup c.*1015_*1019dup (n.*1015_*1019dup) n.4658_4662dup n.3259_3263dup c.3770_3774dup (p.Val1259TrpfsTer25) c.3818_3822dup (p.Val1275TrpfsTer25) c.3878_3882dup (p.Val1295TrpfsTer25) c.3428_3432dup (p.Val1145TrpfsTer25) c.1730_1734dup (p.Val579TrpfsTer25) c.1547_1551dup (p.Val518TrpfsTer25) c.3779_3783dup (p.Val1262TrpfsTer25) c.3731_3735dup (p.Val1246TrpfsTer25) c.3500_3504dup (p.Val1169TrpfsTer25) c.3401_3405dup (p.Val1136TrpfsTer25) c.2582_2586dup (p.Val863TrpfsTer25) n.4133_4137dup | ClinVar |
| 13 | g.51937381C>A | CA388021226 | ATP7B | c.*1566G>T (n.*1566G>T) c.*2660G>T (n.*2660G>T) c.3295G>T (p.Asp1099Tyr) c.3916G>T (p.Asp1306Tyr) c.3583G>T (p.Asp1195Tyr) c.3664G>T (p.Asp1222Tyr) n.1239G>T c.3682G>T (p.Asp1228Tyr) n.4055G>T n.782G>T c.2851G>T (p.Asp951Tyr) c.2626G>T (p.Asp876Tyr) c.3721G>T (p.Asp1241Tyr) c.1694G>T c.*1017G>T (n.*1017G>T) n.4660G>T n.3261G>T c.3772G>T (p.Asp1258Tyr) c.3820G>T (p.Asp1274Tyr) c.3880G>T (p.Asp1294Tyr) c.3430G>T (p.Asp1144Tyr) c.1732G>T (p.Asp578Tyr) c.1549G>T (p.Asp517Tyr) c.3781G>T (p.Asp1261Tyr) c.3733G>T (p.Asp1245Tyr) c.3502G>T (p.Asp1168Tyr) c.3403G>T (p.Asp1135Tyr) c.2584G>T (p.Asp862Tyr) n.4135G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937381C= | CA2091553523 | ATP7B | c.*1566G= (n.*1566G=) c.*2660G= (n.*2660G=) c.3295G= (p.Asp1099=) c.3916G= (p.Asp1306=) c.3583G= (p.Asp1195=) c.3664G= (p.Asp1222=) n.1239G= c.3682G= (p.Asp1228=) n.4055G= n.782G= c.2851G= (p.Asp951=) c.2626G= (p.Asp876=) c.3721G= (p.Asp1241=) c.1694G= c.*1017G= (n.*1017G=) n.4660G= n.3261G= c.3772G= (p.Asp1258=) c.3820G= (p.Asp1274=) c.3880G= (p.Asp1294=) c.3430G= (p.Asp1144=) c.1732G= (p.Asp578=) c.1549G= (p.Asp517=) c.3781G= (p.Asp1261=) c.3733G= (p.Asp1245=) c.3502G= (p.Asp1168=) c.3403G= (p.Asp1135=) c.2584G= (p.Asp862=) n.4135G= | |
| 13 | g.51937381C>G | CA388021227 | ATP7B | c.*1566G>C (n.*1566G>C) c.*2660G>C (n.*2660G>C) c.3295G>C (p.Asp1099His) c.3916G>C (p.Asp1306His) c.3583G>C (p.Asp1195His) c.3664G>C (p.Asp1222His) n.1239G>C c.3682G>C (p.Asp1228His) n.4055G>C n.782G>C c.2851G>C (p.Asp951His) c.2626G>C (p.Asp876His) c.3721G>C (p.Asp1241His) c.1694G>C c.*1017G>C (n.*1017G>C) n.4660G>C n.3261G>C c.3772G>C (p.Asp1258His) c.3820G>C (p.Asp1274His) c.3880G>C (p.Asp1294His) c.3430G>C (p.Asp1144His) c.1732G>C (p.Asp578His) c.1549G>C (p.Asp517His) c.3781G>C (p.Asp1261His) c.3733G>C (p.Asp1245His) c.3502G>C (p.Asp1168His) c.3403G>C (p.Asp1135His) c.2584G>C (p.Asp862His) n.4135G>C | |
| 13 | g.51937381C>T | CA388021228 | ATP7B | c.*1566G>A (n.*1566G>A) c.*2660G>A (n.*2660G>A) c.3295G>A (p.Asp1099Asn) c.3916G>A (p.Asp1306Asn) c.3583G>A (p.Asp1195Asn) c.3664G>A (p.Asp1222Asn) n.1239G>A c.3682G>A (p.Asp1228Asn) n.4055G>A n.782G>A c.2851G>A (p.Asp951Asn) c.2626G>A (p.Asp876Asn) c.3721G>A (p.Asp1241Asn) c.1694G>A c.*1017G>A (n.*1017G>A) n.4660G>A n.3261G>A c.3772G>A (p.Asp1258Asn) c.3820G>A (p.Asp1274Asn) c.3880G>A (p.Asp1294Asn) c.3430G>A (p.Asp1144Asn) c.1732G>A (p.Asp578Asn) c.1549G>A (p.Asp517Asn) c.3781G>A (p.Asp1261Asn) c.3733G>A (p.Asp1245Asn) c.3502G>A (p.Asp1168Asn) c.3403G>A (p.Asp1135Asn) c.2584G>A (p.Asp862Asn) n.4135G>A | |
| 13 | g.51937382C>A | CA484024259 | ATP7B | c.*1565G>T (n.*1565G>T) c.*2659G>T (n.*2659G>T) c.3294G>T (p.Leu1098=) c.3915G>T (p.Leu1305=) c.3582G>T (p.Leu1194=) c.3663G>T (p.Leu1221=) n.1238G>T c.3681G>T (p.Leu1227=) n.4054G>T n.781G>T c.2850G>T (p.Leu950=) c.2625G>T (p.Leu875=) c.3720G>T (p.Leu1240=) c.1693G>T c.*1016G>T (n.*1016G>T) n.4659G>T n.3260G>T c.3771G>T (p.Leu1257=) c.3819G>T (p.Leu1273=) c.3879G>T (p.Leu1293=) c.3429G>T (p.Leu1143=) c.1731G>T (p.Leu577=) c.1548G>T (p.Leu516=) c.3780G>T (p.Leu1260=) c.3732G>T (p.Leu1244=) c.3501G>T (p.Leu1167=) c.3402G>T (p.Leu1134=) c.2583G>T (p.Leu861=) n.4134G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937382C= | CA2091553524 | ATP7B | c.*1565G= (n.*1565G=) c.*2659G= (n.*2659G=) c.3294G= (p.Leu1098=) c.3915G= (p.Leu1305=) c.3582G= (p.Leu1194=) c.3663G= (p.Leu1221=) n.1238G= c.3681G= (p.Leu1227=) n.4054G= n.781G= c.2850G= (p.Leu950=) c.2625G= (p.Leu875=) c.3720G= (p.Leu1240=) c.1693G= c.*1016G= (n.*1016G=) n.4659G= n.3260G= c.3771G= (p.Leu1257=) c.3819G= (p.Leu1273=) c.3879G= (p.Leu1293=) c.3429G= (p.Leu1143=) c.1731G= (p.Leu577=) c.1548G= (p.Leu516=) c.3780G= (p.Leu1260=) c.3732G= (p.Leu1244=) c.3501G= (p.Leu1167=) c.3402G= (p.Leu1134=) c.2583G= (p.Leu861=) n.4134G= | |
| 13 | g.51937382C>G | CA484024260 | ATP7B | c.*1565G>C (n.*1565G>C) c.*2659G>C (n.*2659G>C) c.3294G>C (p.Leu1098=) c.3915G>C (p.Leu1305=) c.3582G>C (p.Leu1194=) c.3663G>C (p.Leu1221=) n.1238G>C c.3681G>C (p.Leu1227=) n.4054G>C n.781G>C c.2850G>C (p.Leu950=) c.2625G>C (p.Leu875=) c.3720G>C (p.Leu1240=) c.1693G>C c.*1016G>C (n.*1016G>C) n.4659G>C n.3260G>C c.3771G>C (p.Leu1257=) c.3819G>C (p.Leu1273=) c.3879G>C (p.Leu1293=) c.3429G>C (p.Leu1143=) c.1731G>C (p.Leu577=) c.1548G>C (p.Leu516=) c.3780G>C (p.Leu1260=) c.3732G>C (p.Leu1244=) c.3501G>C (p.Leu1167=) c.3402G>C (p.Leu1134=) c.2583G>C (p.Leu861=) n.4134G>C | ClinVar gnomAD v4 |
| 13 | g.51937382C>T | CA484024261 | ATP7B | c.*1565G>A (n.*1565G>A) c.*2659G>A (n.*2659G>A) c.3294G>A (p.Leu1098=) c.3915G>A (p.Leu1305=) c.3582G>A (p.Leu1194=) c.3663G>A (p.Leu1221=) n.1238G>A c.3681G>A (p.Leu1227=) n.4054G>A n.781G>A c.2850G>A (p.Leu950=) c.2625G>A (p.Leu875=) c.3720G>A (p.Leu1240=) c.1693G>A c.*1016G>A (n.*1016G>A) n.4659G>A n.3260G>A c.3771G>A (p.Leu1257=) c.3819G>A (p.Leu1273=) c.3879G>A (p.Leu1293=) c.3429G>A (p.Leu1143=) c.1731G>A (p.Leu577=) c.1548G>A (p.Leu516=) c.3780G>A (p.Leu1260=) c.3732G>A (p.Leu1244=) c.3501G>A (p.Leu1167=) c.3402G>A (p.Leu1134=) c.2583G>A (p.Leu861=) n.4134G>A | gnomAD v4 |
| 13 | g.51937383A= | CA2091553525 | ATP7B | c.*1564T= (n.*1564T=) c.*2658T= (n.*2658T=) c.3293T= (p.Leu1098=) c.3914T= (p.Leu1305=) c.3581T= (p.Leu1194=) c.3662T= (p.Leu1221=) n.1237T= c.3680T= (p.Leu1227=) n.4053T= n.780T= c.2849T= (p.Leu950=) c.2624T= (p.Leu875=) c.3719T= (p.Leu1240=) c.1692T= c.*1015T= (n.*1015T=) n.4658T= n.3259T= c.3770T= (p.Leu1257=) c.3818T= (p.Leu1273=) c.3878T= (p.Leu1293=) c.3428T= (p.Leu1143=) c.1730T= (p.Leu577=) c.1547T= (p.Leu516=) c.3779T= (p.Leu1260=) c.3731T= (p.Leu1244=) c.3500T= (p.Leu1167=) c.3401T= (p.Leu1134=) c.2582T= (p.Leu861=) n.4133T= | |
| 13 | g.51937383A>C | CA388021232 | ATP7B | c.*1564T>G (n.*1564T>G) c.*2658T>G (n.*2658T>G) c.3293T>G (p.Leu1098Arg) c.3914T>G (p.Leu1305Arg) c.3581T>G (p.Leu1194Arg) c.3662T>G (p.Leu1221Arg) n.1237T>G c.3680T>G (p.Leu1227Arg) n.4053T>G n.780T>G c.2849T>G (p.Leu950Arg) c.2624T>G (p.Leu875Arg) c.3719T>G (p.Leu1240Arg) c.1692T>G c.*1015T>G (n.*1015T>G) n.4658T>G n.3259T>G c.3770T>G (p.Leu1257Arg) c.3818T>G (p.Leu1273Arg) c.3878T>G (p.Leu1293Arg) c.3428T>G (p.Leu1143Arg) c.1730T>G (p.Leu577Arg) c.1547T>G (p.Leu516Arg) c.3779T>G (p.Leu1260Arg) c.3731T>G (p.Leu1244Arg) c.3500T>G (p.Leu1167Arg) c.3401T>G (p.Leu1134Arg) c.2582T>G (p.Leu861Arg) n.4133T>G | |
| 13 | g.51937383A>G | CA6988534 | ATP7B | c.*1564T>C (n.*1564T>C) c.*2658T>C (n.*2658T>C) c.3293T>C (p.Leu1098Pro) c.3914T>C (p.Leu1305Pro) c.3581T>C (p.Leu1194Pro) c.3662T>C (p.Leu1221Pro) n.1237T>C c.3680T>C (p.Leu1227Pro) n.4053T>C n.780T>C c.2849T>C (p.Leu950Pro) c.2624T>C (p.Leu875Pro) c.3719T>C (p.Leu1240Pro) c.1692T>C c.*1015T>C (n.*1015T>C) n.4658T>C n.3259T>C c.3770T>C (p.Leu1257Pro) c.3818T>C (p.Leu1273Pro) c.3878T>C (p.Leu1293Pro) c.3428T>C (p.Leu1143Pro) c.1730T>C (p.Leu577Pro) c.1547T>C (p.Leu516Pro) c.3779T>C (p.Leu1260Pro) c.3731T>C (p.Leu1244Pro) c.3500T>C (p.Leu1167Pro) c.3401T>C (p.Leu1134Pro) c.2582T>C (p.Leu861Pro) n.4133T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51937383A>T | CA388021229 | ATP7B | c.*1564T>A (n.*1564T>A) c.*2658T>A (n.*2658T>A) c.3293T>A (p.Leu1098Gln) c.3914T>A (p.Leu1305Gln) c.3581T>A (p.Leu1194Gln) c.3662T>A (p.Leu1221Gln) n.1237T>A c.3680T>A (p.Leu1227Gln) n.4053T>A n.780T>A c.2849T>A (p.Leu950Gln) c.2624T>A (p.Leu875Gln) c.3719T>A (p.Leu1240Gln) c.1692T>A c.*1015T>A (n.*1015T>A) n.4658T>A n.3259T>A c.3770T>A (p.Leu1257Gln) c.3818T>A (p.Leu1273Gln) c.3878T>A (p.Leu1293Gln) c.3428T>A (p.Leu1143Gln) c.1730T>A (p.Leu577Gln) c.1547T>A (p.Leu516Gln) c.3779T>A (p.Leu1260Gln) c.3731T>A (p.Leu1244Gln) c.3500T>A (p.Leu1167Gln) c.3401T>A (p.Leu1134Gln) c.2582T>A (p.Leu861Gln) n.4133T>A | |
| 13 | g.51937384G>A | CA484024262 | ATP7B | c.*1563C>T (n.*1563C>T) c.*2657C>T (n.*2657C>T) c.3292C>T (p.Leu1098=) c.3913C>T (p.Leu1305=) c.3580C>T (p.Leu1194=) c.3661C>T (p.Leu1221=) n.1236C>T c.3679C>T (p.Leu1227=) n.4052C>T n.779C>T c.2848C>T (p.Leu950=) c.2623C>T (p.Leu875=) c.3718C>T (p.Leu1240=) c.1691C>T c.*1014C>T (n.*1014C>T) n.4657C>T n.3258C>T c.3769C>T (p.Leu1257=) c.3817C>T (p.Leu1273=) c.3877C>T (p.Leu1293=) c.3427C>T (p.Leu1143=) c.1729C>T (p.Leu577=) c.1546C>T (p.Leu516=) c.3778C>T (p.Leu1260=) c.3730C>T (p.Leu1244=) c.3499C>T (p.Leu1167=) c.3400C>T (p.Leu1134=) c.2581C>T (p.Leu861=) n.4132C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937384G>C | CA388021233 | ATP7B | c.*1563C>G (n.*1563C>G) c.*2657C>G (n.*2657C>G) c.3292C>G (p.Leu1098Val) c.3913C>G (p.Leu1305Val) c.3580C>G (p.Leu1194Val) c.3661C>G (p.Leu1221Val) n.1236C>G c.3679C>G (p.Leu1227Val) n.4052C>G n.779C>G c.2848C>G (p.Leu950Val) c.2623C>G (p.Leu875Val) c.3718C>G (p.Leu1240Val) c.1691C>G c.*1014C>G (n.*1014C>G) n.4657C>G n.3258C>G c.3769C>G (p.Leu1257Val) c.3817C>G (p.Leu1273Val) c.3877C>G (p.Leu1293Val) c.3427C>G (p.Leu1143Val) c.1729C>G (p.Leu577Val) c.1546C>G (p.Leu516Val) c.3778C>G (p.Leu1260Val) c.3730C>G (p.Leu1244Val) c.3499C>G (p.Leu1167Val) c.3400C>G (p.Leu1134Val) c.2581C>G (p.Leu861Val) n.4132C>G | |
| 13 | g.51937384G= | CA2091553532 | ATP7B | c.*1563C= (n.*1563C=) c.*2657C= (n.*2657C=) c.3292C= (p.Leu1098=) c.3913C= (p.Leu1305=) c.3580C= (p.Leu1194=) c.3661C= (p.Leu1221=) n.1236C= c.3679C= (p.Leu1227=) n.4052C= n.779C= c.2848C= (p.Leu950=) c.2623C= (p.Leu875=) c.3718C= (p.Leu1240=) c.1691C= c.*1014C= (n.*1014C=) n.4657C= n.3258C= c.3769C= (p.Leu1257=) c.3817C= (p.Leu1273=) c.3877C= (p.Leu1293=) c.3427C= (p.Leu1143=) c.1729C= (p.Leu577=) c.1546C= (p.Leu516=) c.3778C= (p.Leu1260=) c.3730C= (p.Leu1244=) c.3499C= (p.Leu1167=) c.3400C= (p.Leu1134=) c.2581C= (p.Leu861=) n.4132C= | |
| 13 | g.51937384G>T | CA388021234 | ATP7B | c.*1563C>A (n.*1563C>A) c.*2657C>A (n.*2657C>A) c.3292C>A (p.Leu1098Met) c.3913C>A (p.Leu1305Met) c.3580C>A (p.Leu1194Met) c.3661C>A (p.Leu1221Met) n.1236C>A c.3679C>A (p.Leu1227Met) n.4052C>A n.779C>A c.2848C>A (p.Leu950Met) c.2623C>A (p.Leu875Met) c.3718C>A (p.Leu1240Met) c.1691C>A c.*1014C>A (n.*1014C>A) n.4657C>A n.3258C>A c.3769C>A (p.Leu1257Met) c.3817C>A (p.Leu1273Met) c.3877C>A (p.Leu1293Met) c.3427C>A (p.Leu1143Met) c.1729C>A (p.Leu577Met) c.1546C>A (p.Leu516Met) c.3778C>A (p.Leu1260Met) c.3730C>A (p.Leu1244Met) c.3499C>A (p.Leu1167Met) c.3400C>A (p.Leu1134Met) c.2581C>A (p.Leu861Met) n.4132C>A | |
| 13 | g.51937384_51937385delinsAA | CA658798147 | ATP7B | c.*1562_*1563delinsTT (n.*1562_*1563delinsTT) c.*2656_*2657delinsTT (n.*2656_*2657delinsTT) c.3291_3292delinsTT (p.Leu1097Phe) c.3912_3913delinsTT (p.Leu1304Phe) c.3579_3580delinsTT (p.Leu1193Phe) c.3660_3661delinsTT (p.Leu1220Phe) n.1235_1236delinsTT c.3678_3679delinsTT (p.Leu1226Phe) n.4051_4052delinsTT n.778_779delinsTT c.2847_2848delinsTT (p.Leu949Phe) c.2622_2623delinsTT (p.Leu874Phe) c.3717_3718delinsTT (p.Leu1239Phe) c.1690_1691delinsTT c.*1013_*1014delinsTT (n.*1013_*1014delinsTT) n.4656_4657delinsTT n.3257_3258delinsTT c.3768_3769delinsTT (p.Leu1256Phe) c.3816_3817delinsTT (p.Leu1272Phe) c.3876_3877delinsTT (p.Leu1292Phe) c.3426_3427delinsTT (p.Leu1142Phe) c.1728_1729delinsTT (p.Leu576Phe) c.1545_1546delinsTT (p.Leu515Phe) c.3777_3778delinsTT (p.Leu1259Phe) c.3729_3730delinsTT (p.Leu1243Phe) c.3498_3499delinsTT (p.Leu1166Phe) c.3399_3400delinsTT (p.Leu1133Phe) c.2580_2581delinsTT (p.Leu860Phe) n.4131_4132delinsTT | ClinVar dbSNP |
| 13 | g.51937384_51937385delinsGC | CA2091553533 | ATP7B | c.*1562_*1563delinsGC (n.*1562_*1563delinsGC) c.*2656_*2657delinsGC (n.*2656_*2657delinsGC) c.3291_3292delinsGC (p.Leu1097=) c.3912_3913delinsGC (p.Leu1304=) c.3579_3580delinsGC (p.Leu1193=) c.3660_3661delinsGC (p.Leu1220=) n.1235_1236delinsGC c.3678_3679delinsGC (p.Leu1226=) n.4051_4052delinsGC n.778_779delinsGC c.2847_2848delinsGC (p.Leu949=) c.2622_2623delinsGC (p.Leu874=) c.3717_3718delinsGC (p.Leu1239=) c.1690_1691delinsGC c.*1013_*1014delinsGC (n.*1013_*1014delinsGC) n.4656_4657delinsGC n.3257_3258delinsGC c.3768_3769delinsGC (p.Leu1256=) c.3816_3817delinsGC (p.Leu1272=) c.3876_3877delinsGC (p.Leu1292=) c.3426_3427delinsGC (p.Leu1142=) c.1728_1729delinsGC (p.Leu576=) c.1545_1546delinsGC (p.Leu515=) c.3777_3778delinsGC (p.Leu1259=) c.3729_3730delinsGC (p.Leu1243=) c.3498_3499delinsGC (p.Leu1166=) c.3399_3400delinsGC (p.Leu1133=) c.2580_2581delinsGC (p.Leu860=) n.4131_4132delinsGC | |
| 13 | g.51937385C>A | CA6988535 | ATP7B | c.*1562G>T (n.*1562G>T) c.*2656G>T (n.*2656G>T) c.3291G>T (p.Leu1097Phe) c.3912G>T (p.Leu1304Phe) c.3579G>T (p.Leu1193Phe) c.3660G>T (p.Leu1220Phe) n.1235G>T c.3678G>T (p.Leu1226Phe) n.4051G>T n.778G>T c.2847G>T (p.Leu949Phe) c.2622G>T (p.Leu874Phe) c.3717G>T (p.Leu1239Phe) c.1690G>T c.*1013G>T (n.*1013G>T) n.4656G>T n.3257G>T c.3768G>T (p.Leu1256Phe) c.3816G>T (p.Leu1272Phe) c.3876G>T (p.Leu1292Phe) c.3426G>T (p.Leu1142Phe) c.1728G>T (p.Leu576Phe) c.1545G>T (p.Leu515Phe) c.3777G>T (p.Leu1259Phe) c.3729G>T (p.Leu1243Phe) c.3498G>T (p.Leu1166Phe) c.3399G>T (p.Leu1133Phe) c.2580G>T (p.Leu860Phe) n.4131G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51937385C= | CA2091553541 | ATP7B | c.*1562G= (n.*1562G=) c.*2656G= (n.*2656G=) c.3291G= (p.Leu1097=) c.3912G= (p.Leu1304=) c.3579G= (p.Leu1193=) c.3660G= (p.Leu1220=) n.1235G= c.3678G= (p.Leu1226=) n.4051G= n.778G= c.2847G= (p.Leu949=) c.2622G= (p.Leu874=) c.3717G= (p.Leu1239=) c.1690G= c.*1013G= (n.*1013G=) n.4656G= n.3257G= c.3768G= (p.Leu1256=) c.3816G= (p.Leu1272=) c.3876G= (p.Leu1292=) c.3426G= (p.Leu1142=) c.1728G= (p.Leu576=) c.1545G= (p.Leu515=) c.3777G= (p.Leu1259=) c.3729G= (p.Leu1243=) c.3498G= (p.Leu1166=) c.3399G= (p.Leu1133=) c.2580G= (p.Leu860=) n.4131G= | |
| 13 | g.51937385C>G | CA388021237 | ATP7B | c.*1562G>C (n.*1562G>C) c.*2656G>C (n.*2656G>C) c.3291G>C (p.Leu1097Phe) c.3912G>C (p.Leu1304Phe) c.3579G>C (p.Leu1193Phe) c.3660G>C (p.Leu1220Phe) n.1235G>C c.3678G>C (p.Leu1226Phe) n.4051G>C n.778G>C c.2847G>C (p.Leu949Phe) c.2622G>C (p.Leu874Phe) c.3717G>C (p.Leu1239Phe) c.1690G>C c.*1013G>C (n.*1013G>C) n.4656G>C n.3257G>C c.3768G>C (p.Leu1256Phe) c.3816G>C (p.Leu1272Phe) c.3876G>C (p.Leu1292Phe) c.3426G>C (p.Leu1142Phe) c.1728G>C (p.Leu576Phe) c.1545G>C (p.Leu515Phe) c.3777G>C (p.Leu1259Phe) c.3729G>C (p.Leu1243Phe) c.3498G>C (p.Leu1166Phe) c.3399G>C (p.Leu1133Phe) c.2580G>C (p.Leu860Phe) n.4131G>C | |
| 13 | g.51937385C>T | CA484024263 | ATP7B | c.*1562G>A (n.*1562G>A) c.*2656G>A (n.*2656G>A) c.3291G>A (p.Leu1097=) c.3912G>A (p.Leu1304=) c.3579G>A (p.Leu1193=) c.3660G>A (p.Leu1220=) n.1235G>A c.3678G>A (p.Leu1226=) n.4051G>A n.778G>A c.2847G>A (p.Leu949=) c.2622G>A (p.Leu874=) c.3717G>A (p.Leu1239=) c.1690G>A c.*1013G>A (n.*1013G>A) n.4656G>A n.3257G>A c.3768G>A (p.Leu1256=) c.3816G>A (p.Leu1272=) c.3876G>A (p.Leu1292=) c.3426G>A (p.Leu1142=) c.1728G>A (p.Leu576=) c.1545G>A (p.Leu515=) c.3777G>A (p.Leu1259=) c.3729G>A (p.Leu1243=) c.3498G>A (p.Leu1166=) c.3399G>A (p.Leu1133=) c.2580G>A (p.Leu860=) n.4131G>A | ClinVar dbSNP |
| 13 | g.51937386A>C | CA388021238 | ATP7B | c.*1561T>G (n.*1561T>G) c.*2655T>G (n.*2655T>G) c.3290T>G (p.Leu1097Trp) c.3911T>G (p.Leu1304Trp) c.3578T>G (p.Leu1193Trp) c.3659T>G (p.Leu1220Trp) n.1234T>G c.3677T>G (p.Leu1226Trp) n.4050T>G n.777T>G c.2846T>G (p.Leu949Trp) c.2621T>G (p.Leu874Trp) c.3716T>G (p.Leu1239Trp) c.1689T>G c.*1012T>G (n.*1012T>G) n.4655T>G n.3256T>G c.3767T>G (p.Leu1256Trp) c.3815T>G (p.Leu1272Trp) c.3875T>G (p.Leu1292Trp) c.3425T>G (p.Leu1142Trp) c.1727T>G (p.Leu576Trp) c.1544T>G (p.Leu515Trp) c.3776T>G (p.Leu1259Trp) c.3728T>G (p.Leu1243Trp) c.3497T>G (p.Leu1166Trp) c.3398T>G (p.Leu1133Trp) c.2579T>G (p.Leu860Trp) n.4130T>G | |
| 13 | g.51937386A>G | CA388021240 | ATP7B | c.*1561T>C (n.*1561T>C) c.*2655T>C (n.*2655T>C) c.3290T>C (p.Leu1097Ser) c.3911T>C (p.Leu1304Ser) c.3578T>C (p.Leu1193Ser) c.3659T>C (p.Leu1220Ser) n.1234T>C c.3677T>C (p.Leu1226Ser) n.4050T>C n.777T>C c.2846T>C (p.Leu949Ser) c.2621T>C (p.Leu874Ser) c.3716T>C (p.Leu1239Ser) c.1689T>C c.*1012T>C (n.*1012T>C) n.4655T>C n.3256T>C c.3767T>C (p.Leu1256Ser) c.3815T>C (p.Leu1272Ser) c.3875T>C (p.Leu1292Ser) c.3425T>C (p.Leu1142Ser) c.1727T>C (p.Leu576Ser) c.1544T>C (p.Leu515Ser) c.3776T>C (p.Leu1259Ser) c.3728T>C (p.Leu1243Ser) c.3497T>C (p.Leu1166Ser) c.3398T>C (p.Leu1133Ser) c.2579T>C (p.Leu860Ser) n.4130T>C | |
| 13 | g.51937386A>T | CA388021243 | ATP7B | c.*1561T>A (n.*1561T>A) c.*2655T>A (n.*2655T>A) c.3290T>A (p.Leu1097Ter) c.3911T>A (p.Leu1304Ter) c.3578T>A (p.Leu1193Ter) c.3659T>A (p.Leu1220Ter) n.1234T>A c.3677T>A (p.Leu1226Ter) n.4050T>A n.777T>A c.2846T>A (p.Leu949Ter) c.2621T>A (p.Leu874Ter) c.3716T>A (p.Leu1239Ter) c.1689T>A c.*1012T>A (n.*1012T>A) n.4655T>A n.3256T>A c.3767T>A (p.Leu1256Ter) c.3815T>A (p.Leu1272Ter) c.3875T>A (p.Leu1292Ter) c.3425T>A (p.Leu1142Ter) c.1727T>A (p.Leu576Ter) c.1544T>A (p.Leu515Ter) c.3776T>A (p.Leu1259Ter) c.3728T>A (p.Leu1243Ter) c.3497T>A (p.Leu1166Ter) c.3398T>A (p.Leu1133Ter) c.2579T>A (p.Leu860Ter) n.4130T>A | |
| 13 | g.51937387A>C | CA388021245 | ATP7B | c.*1560T>G (n.*1560T>G) c.*2654T>G (n.*2654T>G) c.3289T>G (p.Leu1097Val) c.3910T>G (p.Leu1304Val) c.3577T>G (p.Leu1193Val) c.3658T>G (p.Leu1220Val) n.1233T>G c.3676T>G (p.Leu1226Val) n.4049T>G n.776T>G c.2845T>G (p.Leu949Val) c.2620T>G (p.Leu874Val) c.3715T>G (p.Leu1239Val) c.1688T>G c.*1011T>G (n.*1011T>G) n.4654T>G n.3255T>G c.3766T>G (p.Leu1256Val) c.3814T>G (p.Leu1272Val) c.3874T>G (p.Leu1292Val) c.3424T>G (p.Leu1142Val) c.1726T>G (p.Leu576Val) c.1543T>G (p.Leu515Val) c.3775T>G (p.Leu1259Val) c.3727T>G (p.Leu1243Val) c.3496T>G (p.Leu1166Val) c.3397T>G (p.Leu1133Val) c.2578T>G (p.Leu860Val) n.4129T>G | |
| 13 | g.51937387A>G | CA484024264 | ATP7B | c.*1560T>C (n.*1560T>C) c.*2654T>C (n.*2654T>C) c.3289T>C (p.Leu1097=) c.3910T>C (p.Leu1304=) c.3577T>C (p.Leu1193=) c.3658T>C (p.Leu1220=) n.1233T>C c.3676T>C (p.Leu1226=) n.4049T>C n.776T>C c.2845T>C (p.Leu949=) c.2620T>C (p.Leu874=) c.3715T>C (p.Leu1239=) c.1688T>C c.*1011T>C (n.*1011T>C) n.4654T>C n.3255T>C c.3766T>C (p.Leu1256=) c.3814T>C (p.Leu1272=) c.3874T>C (p.Leu1292=) c.3424T>C (p.Leu1142=) c.1726T>C (p.Leu576=) c.1543T>C (p.Leu515=) c.3775T>C (p.Leu1259=) c.3727T>C (p.Leu1243=) c.3496T>C (p.Leu1166=) c.3397T>C (p.Leu1133=) c.2578T>C (p.Leu860=) n.4129T>C | |
| 13 | g.51937387A>T | CA388021248 | ATP7B | c.*1560T>A (n.*1560T>A) c.*2654T>A (n.*2654T>A) c.3289T>A (p.Leu1097Met) c.3910T>A (p.Leu1304Met) c.3577T>A (p.Leu1193Met) c.3658T>A (p.Leu1220Met) n.1233T>A c.3676T>A (p.Leu1226Met) n.4049T>A n.776T>A c.2845T>A (p.Leu949Met) c.2620T>A (p.Leu874Met) c.3715T>A (p.Leu1239Met) c.1688T>A c.*1011T>A (n.*1011T>A) n.4654T>A n.3255T>A c.3766T>A (p.Leu1256Met) c.3814T>A (p.Leu1272Met) c.3874T>A (p.Leu1292Met) c.3424T>A (p.Leu1142Met) c.1726T>A (p.Leu576Met) c.1543T>A (p.Leu515Met) c.3775T>A (p.Leu1259Met) c.3727T>A (p.Leu1243Met) c.3496T>A (p.Leu1166Met) c.3397T>A (p.Leu1133Met) c.2578T>A (p.Leu860Met) n.4129T>A | |
| 13 | g.51937388A>C | CA388021251 | ATP7B | c.*1559T>G (n.*1559T>G) c.*2653T>G (n.*2653T>G) c.3288T>G (p.Asp1096Glu) c.3909T>G (p.Asp1303Glu) c.3576T>G (p.Asp1192Glu) c.3657T>G (p.Asp1219Glu) n.1232T>G c.3675T>G (p.Asp1225Glu) n.4048T>G n.775T>G c.2844T>G (p.Asp948Glu) c.2619T>G (p.Asp873Glu) c.3714T>G (p.Asp1238Glu) c.1687T>G c.*1010T>G (n.*1010T>G) n.4653T>G n.3254T>G c.3765T>G (p.Asp1255Glu) c.3813T>G (p.Asp1271Glu) c.3873T>G (p.Asp1291Glu) c.3423T>G (p.Asp1141Glu) c.1725T>G (p.Asp575Glu) c.1542T>G (p.Asp514Glu) c.3774T>G (p.Asp1258Glu) c.3726T>G (p.Asp1242Glu) c.3495T>G (p.Asp1165Glu) c.3396T>G (p.Asp1132Glu) c.2577T>G (p.Asp859Glu) n.4128T>G | |
| 13 | g.51937388A>G | CA484024265 | ATP7B | c.*1559T>C (n.*1559T>C) c.*2653T>C (n.*2653T>C) c.3288T>C (p.Asp1096=) c.3909T>C (p.Asp1303=) c.3576T>C (p.Asp1192=) c.3657T>C (p.Asp1219=) n.1232T>C c.3675T>C (p.Asp1225=) n.4048T>C n.775T>C c.2844T>C (p.Asp948=) c.2619T>C (p.Asp873=) c.3714T>C (p.Asp1238=) c.1687T>C c.*1010T>C (n.*1010T>C) n.4653T>C n.3254T>C c.3765T>C (p.Asp1255=) c.3813T>C (p.Asp1271=) c.3873T>C (p.Asp1291=) c.3423T>C (p.Asp1141=) c.1725T>C (p.Asp575=) c.1542T>C (p.Asp514=) c.3774T>C (p.Asp1258=) c.3726T>C (p.Asp1242=) c.3495T>C (p.Asp1165=) c.3396T>C (p.Asp1132=) c.2577T>C (p.Asp859=) n.4128T>C | |
| 13 | g.51937388A>T | CA388021254 | ATP7B | c.*1559T>A (n.*1559T>A) c.*2653T>A (n.*2653T>A) c.3288T>A (p.Asp1096Glu) c.3909T>A (p.Asp1303Glu) c.3576T>A (p.Asp1192Glu) c.3657T>A (p.Asp1219Glu) n.1232T>A c.3675T>A (p.Asp1225Glu) n.4048T>A n.775T>A c.2844T>A (p.Asp948Glu) c.2619T>A (p.Asp873Glu) c.3714T>A (p.Asp1238Glu) c.1687T>A c.*1010T>A (n.*1010T>A) n.4653T>A n.3254T>A c.3765T>A (p.Asp1255Glu) c.3813T>A (p.Asp1271Glu) c.3873T>A (p.Asp1291Glu) c.3423T>A (p.Asp1141Glu) c.1725T>A (p.Asp575Glu) c.1542T>A (p.Asp514Glu) c.3774T>A (p.Asp1258Glu) c.3726T>A (p.Asp1242Glu) c.3495T>A (p.Asp1165Glu) c.3396T>A (p.Asp1132Glu) c.2577T>A (p.Asp859Glu) n.4128T>A | |
| 13 | g.51937389T>A | CA388021256 | ATP7B | c.*1558A>T (n.*1558A>T) c.*2652A>T (n.*2652A>T) c.3287A>T (p.Asp1096Val) c.3908A>T (p.Asp1303Val) c.3575A>T (p.Asp1192Val) c.3656A>T (p.Asp1219Val) n.1231A>T c.3674A>T (p.Asp1225Val) n.4047A>T n.774A>T c.2843A>T (p.Asp948Val) c.2618A>T (p.Asp873Val) c.3713A>T (p.Asp1238Val) c.1686A>T c.*1009A>T (n.*1009A>T) n.4652A>T n.3253A>T c.3764A>T (p.Asp1255Val) c.3812A>T (p.Asp1271Val) c.3872A>T (p.Asp1291Val) c.3422A>T (p.Asp1141Val) c.1724A>T (p.Asp575Val) c.1541A>T (p.Asp514Val) c.3773A>T (p.Asp1258Val) c.3725A>T (p.Asp1242Val) c.3494A>T (p.Asp1165Val) c.3395A>T (p.Asp1132Val) c.2576A>T (p.Asp859Val) n.4127A>T | gnomAD v4 COSMIC |
| 13 | g.51937389T>C | CA388021258 | ATP7B | c.*1558A>G (n.*1558A>G) c.*2652A>G (n.*2652A>G) c.3287A>G (p.Asp1096Gly) c.3908A>G (p.Asp1303Gly) c.3575A>G (p.Asp1192Gly) c.3656A>G (p.Asp1219Gly) n.1231A>G c.3674A>G (p.Asp1225Gly) n.4047A>G n.774A>G c.2843A>G (p.Asp948Gly) c.2618A>G (p.Asp873Gly) c.3713A>G (p.Asp1238Gly) c.1686A>G c.*1009A>G (n.*1009A>G) n.4652A>G n.3253A>G c.3764A>G (p.Asp1255Gly) c.3812A>G (p.Asp1271Gly) c.3872A>G (p.Asp1291Gly) c.3422A>G (p.Asp1141Gly) c.1724A>G (p.Asp575Gly) c.1541A>G (p.Asp514Gly) c.3773A>G (p.Asp1258Gly) c.3725A>G (p.Asp1242Gly) c.3494A>G (p.Asp1165Gly) c.3395A>G (p.Asp1132Gly) c.2576A>G (p.Asp859Gly) n.4127A>G | |
| 13 | g.51937389T>G | CA6988536 | ATP7B | c.*1558A>C (n.*1558A>C) c.*2652A>C (n.*2652A>C) c.3287A>C (p.Asp1096Ala) c.3908A>C (p.Asp1303Ala) c.3575A>C (p.Asp1192Ala) c.3656A>C (p.Asp1219Ala) n.1231A>C c.3674A>C (p.Asp1225Ala) n.4047A>C n.774A>C c.2843A>C (p.Asp948Ala) c.2618A>C (p.Asp873Ala) c.3713A>C (p.Asp1238Ala) c.1686A>C c.*1009A>C (n.*1009A>C) n.4652A>C n.3253A>C c.3764A>C (p.Asp1255Ala) c.3812A>C (p.Asp1271Ala) c.3872A>C (p.Asp1291Ala) c.3422A>C (p.Asp1141Ala) c.1724A>C (p.Asp575Ala) c.1541A>C (p.Asp514Ala) c.3773A>C (p.Asp1258Ala) c.3725A>C (p.Asp1242Ala) c.3494A>C (p.Asp1165Ala) c.3395A>C (p.Asp1132Ala) c.2576A>C (p.Asp859Ala) n.4127A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51937389T= | CA2091553543 | ATP7B | c.*1558A= (n.*1558A=) c.*2652A= (n.*2652A=) c.3287A= (p.Asp1096=) c.3908A= (p.Asp1303=) c.3575A= (p.Asp1192=) c.3656A= (p.Asp1219=) n.1231A= c.3674A= (p.Asp1225=) n.4047A= n.774A= c.2843A= (p.Asp948=) c.2618A= (p.Asp873=) c.3713A= (p.Asp1238=) c.1686A= c.*1009A= (n.*1009A=) n.4652A= n.3253A= c.3764A= (p.Asp1255=) c.3812A= (p.Asp1271=) c.3872A= (p.Asp1291=) c.3422A= (p.Asp1141=) c.1724A= (p.Asp575=) c.1541A= (p.Asp514=) c.3773A= (p.Asp1258=) c.3725A= (p.Asp1242=) c.3494A= (p.Asp1165=) c.3395A= (p.Asp1132=) c.2576A= (p.Asp859=) n.4127A= | |
| 13 | g.51937390C>A | CA388021271 | ATP7B | c.*1557G>T (n.*1557G>T) c.*2651G>T (n.*2651G>T) c.3286G>T (p.Asp1096Tyr) c.3907G>T (p.Asp1303Tyr) c.3574G>T (p.Asp1192Tyr) c.3655G>T (p.Asp1219Tyr) n.1230G>T c.3673G>T (p.Asp1225Tyr) n.4046G>T n.773G>T c.2842G>T (p.Asp948Tyr) c.2617G>T (p.Asp873Tyr) c.3712G>T (p.Asp1238Tyr) c.1685G>T c.*1008G>T (n.*1008G>T) n.4651G>T n.3252G>T c.3763G>T (p.Asp1255Tyr) c.3811G>T (p.Asp1271Tyr) c.3871G>T (p.Asp1291Tyr) c.3421G>T (p.Asp1141Tyr) c.1723G>T (p.Asp575Tyr) c.1540G>T (p.Asp514Tyr) c.3772G>T (p.Asp1258Tyr) c.3724G>T (p.Asp1242Tyr) c.3493G>T (p.Asp1165Tyr) c.3394G>T (p.Asp1132Tyr) c.2575G>T (p.Asp859Tyr) n.4126G>T | |
| 13 | g.51937390C>G | CA388021266 | ATP7B | c.*1557G>C (n.*1557G>C) c.*2651G>C (n.*2651G>C) c.3286G>C (p.Asp1096His) c.3907G>C (p.Asp1303His) c.3574G>C (p.Asp1192His) c.3655G>C (p.Asp1219His) n.1230G>C c.3673G>C (p.Asp1225His) n.4046G>C n.773G>C c.2842G>C (p.Asp948His) c.2617G>C (p.Asp873His) c.3712G>C (p.Asp1238His) c.1685G>C c.*1008G>C (n.*1008G>C) n.4651G>C n.3252G>C c.3763G>C (p.Asp1255His) c.3811G>C (p.Asp1271His) c.3871G>C (p.Asp1291His) c.3421G>C (p.Asp1141His) c.1723G>C (p.Asp575His) c.1540G>C (p.Asp514His) c.3772G>C (p.Asp1258His) c.3724G>C (p.Asp1242His) c.3493G>C (p.Asp1165His) c.3394G>C (p.Asp1132His) c.2575G>C (p.Asp859His) n.4126G>C | |
| 13 | g.51937390C>T | CA388021268 | ATP7B | c.*1557G>A (n.*1557G>A) c.*2651G>A (n.*2651G>A) c.3286G>A (p.Asp1096Asn) c.3907G>A (p.Asp1303Asn) c.3574G>A (p.Asp1192Asn) c.3655G>A (p.Asp1219Asn) n.1230G>A c.3673G>A (p.Asp1225Asn) n.4046G>A n.773G>A c.2842G>A (p.Asp948Asn) c.2617G>A (p.Asp873Asn) c.3712G>A (p.Asp1238Asn) c.1685G>A c.*1008G>A (n.*1008G>A) n.4651G>A n.3252G>A c.3763G>A (p.Asp1255Asn) c.3811G>A (p.Asp1271Asn) c.3871G>A (p.Asp1291Asn) c.3421G>A (p.Asp1141Asn) c.1723G>A (p.Asp575Asn) c.1540G>A (p.Asp514Asn) c.3772G>A (p.Asp1258Asn) c.3724G>A (p.Asp1242Asn) c.3493G>A (p.Asp1165Asn) c.3394G>A (p.Asp1132Asn) c.2575G>A (p.Asp859Asn) n.4126G>A | COSMIC |
| 13 | g.51937391A>C | CA388021275 | ATP7B | c.*1556T>G (n.*1556T>G) c.*2650T>G (n.*2650T>G) c.3285T>G (p.Asn1095Lys) c.3906T>G (p.Asn1302Lys) c.3573T>G (p.Asn1191Lys) c.3654T>G (p.Asn1218Lys) n.1229T>G c.3672T>G (p.Asn1224Lys) n.4045T>G n.772T>G c.2841T>G (p.Asn947Lys) c.2616T>G (p.Asn872Lys) c.3711T>G (p.Asn1237Lys) c.1684T>G c.*1007T>G (n.*1007T>G) n.4650T>G n.3251T>G c.3762T>G (p.Asn1254Lys) c.3810T>G (p.Asn1270Lys) c.3870T>G (p.Asn1290Lys) c.3420T>G (p.Asn1140Lys) c.1722T>G (p.Asn574Lys) c.1539T>G (p.Asn513Lys) c.3771T>G (p.Asn1257Lys) c.3723T>G (p.Asn1241Lys) c.3492T>G (p.Asn1164Lys) c.3393T>G (p.Asn1131Lys) c.2574T>G (p.Asn858Lys) n.4125T>G | |
| 13 | g.51937391A>G | CA484024266 | ATP7B | c.*1556T>C (n.*1556T>C) c.*2650T>C (n.*2650T>C) c.3285T>C (p.Asn1095=) c.3906T>C (p.Asn1302=) c.3573T>C (p.Asn1191=) c.3654T>C (p.Asn1218=) n.1229T>C c.3672T>C (p.Asn1224=) n.4045T>C n.772T>C c.2841T>C (p.Asn947=) c.2616T>C (p.Asn872=) c.3711T>C (p.Asn1237=) c.1684T>C c.*1007T>C (n.*1007T>C) n.4650T>C n.3251T>C c.3762T>C (p.Asn1254=) c.3810T>C (p.Asn1270=) c.3870T>C (p.Asn1290=) c.3420T>C (p.Asn1140=) c.1722T>C (p.Asn574=) c.1539T>C (p.Asn513=) c.3771T>C (p.Asn1257=) c.3723T>C (p.Asn1241=) c.3492T>C (p.Asn1164=) c.3393T>C (p.Asn1131=) c.2574T>C (p.Asn858=) n.4125T>C | |
| 13 | g.51937391A>T | CA388021277 | ATP7B | c.*1556T>A (n.*1556T>A) c.*2650T>A (n.*2650T>A) c.3285T>A (p.Asn1095Lys) c.3906T>A (p.Asn1302Lys) c.3573T>A (p.Asn1191Lys) c.3654T>A (p.Asn1218Lys) n.1229T>A c.3672T>A (p.Asn1224Lys) n.4045T>A n.772T>A c.2841T>A (p.Asn947Lys) c.2616T>A (p.Asn872Lys) c.3711T>A (p.Asn1237Lys) c.1684T>A c.*1007T>A (n.*1007T>A) n.4650T>A n.3251T>A c.3762T>A (p.Asn1254Lys) c.3810T>A (p.Asn1270Lys) c.3870T>A (p.Asn1290Lys) c.3420T>A (p.Asn1140Lys) c.1722T>A (p.Asn574Lys) c.1539T>A (p.Asn513Lys) c.3771T>A (p.Asn1257Lys) c.3723T>A (p.Asn1241Lys) c.3492T>A (p.Asn1164Lys) c.3393T>A (p.Asn1131Lys) c.2574T>A (p.Asn858Lys) n.4125T>A | |
| 13 | g.51937392T>A | CA388021280 | ATP7B | c.*1555A>T (n.*1555A>T) c.*2649A>T (n.*2649A>T) c.3284A>T (p.Asn1095Ile) c.3905A>T (p.Asn1302Ile) c.3572A>T (p.Asn1191Ile) c.3653A>T (p.Asn1218Ile) n.1228A>T c.3671A>T (p.Asn1224Ile) n.4044A>T n.771A>T c.2840A>T (p.Asn947Ile) c.2615A>T (p.Asn872Ile) c.3710A>T (p.Asn1237Ile) c.1683A>T c.*1006A>T (n.*1006A>T) n.4649A>T n.3250A>T c.3761A>T (p.Asn1254Ile) c.3809A>T (p.Asn1270Ile) c.3869A>T (p.Asn1290Ile) c.3419A>T (p.Asn1140Ile) c.1721A>T (p.Asn574Ile) c.1538A>T (p.Asn513Ile) c.3770A>T (p.Asn1257Ile) c.3722A>T (p.Asn1241Ile) c.3491A>T (p.Asn1164Ile) c.3392A>T (p.Asn1131Ile) c.2573A>T (p.Asn858Ile) n.4124A>T | |
| 13 | g.51937392T>C | CA388021282 | ATP7B | c.*1555A>G (n.*1555A>G) c.*2649A>G (n.*2649A>G) c.3284A>G (p.Asn1095Ser) c.3905A>G (p.Asn1302Ser) c.3572A>G (p.Asn1191Ser) c.3653A>G (p.Asn1218Ser) n.1228A>G c.3671A>G (p.Asn1224Ser) n.4044A>G n.771A>G c.2840A>G (p.Asn947Ser) c.2615A>G (p.Asn872Ser) c.3710A>G (p.Asn1237Ser) c.1683A>G c.*1006A>G (n.*1006A>G) n.4649A>G n.3250A>G c.3761A>G (p.Asn1254Ser) c.3809A>G (p.Asn1270Ser) c.3869A>G (p.Asn1290Ser) c.3419A>G (p.Asn1140Ser) c.1721A>G (p.Asn574Ser) c.1538A>G (p.Asn513Ser) c.3770A>G (p.Asn1257Ser) c.3722A>G (p.Asn1241Ser) c.3491A>G (p.Asn1164Ser) c.3392A>G (p.Asn1131Ser) c.2573A>G (p.Asn858Ser) n.4124A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51937392T>G | CA388021284 | ATP7B | c.*1555A>C (n.*1555A>C) c.*2649A>C (n.*2649A>C) c.3284A>C (p.Asn1095Thr) c.3905A>C (p.Asn1302Thr) c.3572A>C (p.Asn1191Thr) c.3653A>C (p.Asn1218Thr) n.1228A>C c.3671A>C (p.Asn1224Thr) n.4044A>C n.771A>C c.2840A>C (p.Asn947Thr) c.2615A>C (p.Asn872Thr) c.3710A>C (p.Asn1237Thr) c.1683A>C c.*1006A>C (n.*1006A>C) n.4649A>C n.3250A>C c.3761A>C (p.Asn1254Thr) c.3809A>C (p.Asn1270Thr) c.3869A>C (p.Asn1290Thr) c.3419A>C (p.Asn1140Thr) c.1721A>C (p.Asn574Thr) c.1538A>C (p.Asn513Thr) c.3770A>C (p.Asn1257Thr) c.3722A>C (p.Asn1241Thr) c.3491A>C (p.Asn1164Thr) c.3392A>C (p.Asn1131Thr) c.2573A>C (p.Asn858Thr) n.4124A>C | |
| 13 | g.51937392T= | CA2091553548 | ATP7B | c.*1555A= (n.*1555A=) c.*2649A= (n.*2649A=) c.3284A= (p.Asn1095=) c.3905A= (p.Asn1302=) c.3572A= (p.Asn1191=) c.3653A= (p.Asn1218=) n.1228A= c.3671A= (p.Asn1224=) n.4044A= n.771A= c.2840A= (p.Asn947=) c.2615A= (p.Asn872=) c.3710A= (p.Asn1237=) c.1683A= c.*1006A= (n.*1006A=) n.4649A= n.3250A= c.3761A= (p.Asn1254=) c.3809A= (p.Asn1270=) c.3869A= (p.Asn1290=) c.3419A= (p.Asn1140=) c.1721A= (p.Asn574=) c.1538A= (p.Asn513=) c.3770A= (p.Asn1257=) c.3722A= (p.Asn1241=) c.3491A= (p.Asn1164=) c.3392A= (p.Asn1131=) c.2573A= (p.Asn858=) n.4124A= | |
| 13 | g.51937393T>A | CA388021287 | ATP7B | c.*1554A>T (n.*1554A>T) c.*2648A>T (n.*2648A>T) c.3283A>T (p.Asn1095Tyr) c.3904A>T (p.Asn1302Tyr) c.3571A>T (p.Asn1191Tyr) c.3652A>T (p.Asn1218Tyr) n.1227A>T c.3670A>T (p.Asn1224Tyr) n.4043A>T n.770A>T c.2839A>T (p.Asn947Tyr) c.2614A>T (p.Asn872Tyr) c.3709A>T (p.Asn1237Tyr) c.1682A>T c.*1005A>T (n.*1005A>T) n.4648A>T n.3249A>T c.3760A>T (p.Asn1254Tyr) c.3808A>T (p.Asn1270Tyr) c.3868A>T (p.Asn1290Tyr) c.3418A>T (p.Asn1140Tyr) c.1720A>T (p.Asn574Tyr) c.1537A>T (p.Asn513Tyr) c.3769A>T (p.Asn1257Tyr) c.3721A>T (p.Asn1241Tyr) c.3490A>T (p.Asn1164Tyr) c.3391A>T (p.Asn1131Tyr) c.2572A>T (p.Asn858Tyr) n.4123A>T | |
| 13 | g.51937393T>C | CA388021290 | ATP7B | c.*1554A>G (n.*1554A>G) c.*2648A>G (n.*2648A>G) c.3283A>G (p.Asn1095Asp) c.3904A>G (p.Asn1302Asp) c.3571A>G (p.Asn1191Asp) c.3652A>G (p.Asn1218Asp) n.1227A>G c.3670A>G (p.Asn1224Asp) n.4043A>G n.770A>G c.2839A>G (p.Asn947Asp) c.2614A>G (p.Asn872Asp) c.3709A>G (p.Asn1237Asp) c.1682A>G c.*1005A>G (n.*1005A>G) n.4648A>G n.3249A>G c.3760A>G (p.Asn1254Asp) c.3808A>G (p.Asn1270Asp) c.3868A>G (p.Asn1290Asp) c.3418A>G (p.Asn1140Asp) c.1720A>G (p.Asn574Asp) c.1537A>G (p.Asn513Asp) c.3769A>G (p.Asn1257Asp) c.3721A>G (p.Asn1241Asp) c.3490A>G (p.Asn1164Asp) c.3391A>G (p.Asn1131Asp) c.2572A>G (p.Asn858Asp) n.4123A>G | dbSNP |
| 13 | g.51937393T>G | CA388021292 | ATP7B | c.*1554A>C (n.*1554A>C) c.*2648A>C (n.*2648A>C) c.3283A>C (p.Asn1095His) c.3904A>C (p.Asn1302His) c.3571A>C (p.Asn1191His) c.3652A>C (p.Asn1218His) n.1227A>C c.3670A>C (p.Asn1224His) n.4043A>C n.770A>C c.2839A>C (p.Asn947His) c.2614A>C (p.Asn872His) c.3709A>C (p.Asn1237His) c.1682A>C c.*1005A>C (n.*1005A>C) n.4648A>C n.3249A>C c.3760A>C (p.Asn1254His) c.3808A>C (p.Asn1270His) c.3868A>C (p.Asn1290His) c.3418A>C (p.Asn1140His) c.1720A>C (p.Asn574His) c.1537A>C (p.Asn513His) c.3769A>C (p.Asn1257His) c.3721A>C (p.Asn1241His) c.3490A>C (p.Asn1164His) c.3391A>C (p.Asn1131His) c.2572A>C (p.Asn858His) n.4123A>C | |
| 13 | g.51937393T= | CA2091553551 | ATP7B | c.*1554A= (n.*1554A=) c.*2648A= (n.*2648A=) c.3283A= (p.Asn1095=) c.3904A= (p.Asn1302=) c.3571A= (p.Asn1191=) c.3652A= (p.Asn1218=) n.1227A= c.3670A= (p.Asn1224=) n.4043A= n.770A= c.2839A= (p.Asn947=) c.2614A= (p.Asn872=) c.3709A= (p.Asn1237=) c.1682A= c.*1005A= (n.*1005A=) n.4648A= n.3249A= c.3760A= (p.Asn1254=) c.3808A= (p.Asn1270=) c.3868A= (p.Asn1290=) c.3418A= (p.Asn1140=) c.1720A= (p.Asn574=) c.1537A= (p.Asn513=) c.3769A= (p.Asn1257=) c.3721A= (p.Asn1241=) c.3490A= (p.Asn1164=) c.3391A= (p.Asn1131=) c.2572A= (p.Asn858=) n.4123A= |