Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51937283A= | CA2091553304 | ATP7B | c.*1664T= (n.*1664T=) c.*2758T= (n.*2758T=) c.3393T= (p.Ile1131=) c.4014T= (p.Ile1338=) c.3681T= (p.Ile1227=) c.3762T= (p.Ile1254=) n.1337T= c.3780T= (p.Ile1260=) n.4153T= n.880T= c.2949T= (p.Ile983=) c.2724T= (p.Ile908=) c.3819T= (p.Ile1273=) c.1792T= c.*1115T= (n.*1115T=) n.4758T= n.3359T= c.3870T= (p.Ile1290=) c.3918T= (p.Ile1306=) c.3978T= (p.Ile1326=) c.3528T= (p.Ile1176=) c.1830T= (p.Ile610=) c.1647T= (p.Ile549=) c.3879T= (p.Ile1293=) c.3831T= (p.Ile1277=) c.3600T= (p.Ile1200=) c.3501T= (p.Ile1167=) c.2682T= (p.Ile894=) n.4233T= | |
13 | g.51937283A>C | CA388020780 | ATP7B | c.*1664T>G (n.*1664T>G) c.*2758T>G (n.*2758T>G) c.3393T>G (p.Ile1131Met) c.4014T>G (p.Ile1338Met) c.3681T>G (p.Ile1227Met) c.3762T>G (p.Ile1254Met) n.1337T>G c.3780T>G (p.Ile1260Met) n.4153T>G n.880T>G c.2949T>G (p.Ile983Met) c.2724T>G (p.Ile908Met) c.3819T>G (p.Ile1273Met) c.1792T>G c.*1115T>G (n.*1115T>G) n.4758T>G n.3359T>G c.3870T>G (p.Ile1290Met) c.3918T>G (p.Ile1306Met) c.3978T>G (p.Ile1326Met) c.3528T>G (p.Ile1176Met) c.1830T>G (p.Ile610Met) c.1647T>G (p.Ile549Met) c.3879T>G (p.Ile1293Met) c.3831T>G (p.Ile1277Met) c.3600T>G (p.Ile1200Met) c.3501T>G (p.Ile1167Met) c.2682T>G (p.Ile894Met) n.4233T>G | |
13 | g.51937283A>G | CA6988519 | ATP7B | c.*1664T>C (n.*1664T>C) c.*2758T>C (n.*2758T>C) c.3393T>C (p.Ile1131=) c.4014T>C (p.Ile1338=) c.3681T>C (p.Ile1227=) c.3762T>C (p.Ile1254=) n.1337T>C c.3780T>C (p.Ile1260=) n.4153T>C n.880T>C c.2949T>C (p.Ile983=) c.2724T>C (p.Ile908=) c.3819T>C (p.Ile1273=) c.1792T>C c.*1115T>C (n.*1115T>C) n.4758T>C n.3359T>C c.3870T>C (p.Ile1290=) c.3918T>C (p.Ile1306=) c.3978T>C (p.Ile1326=) c.3528T>C (p.Ile1176=) c.1830T>C (p.Ile610=) c.1647T>C (p.Ile549=) c.3879T>C (p.Ile1293=) c.3831T>C (p.Ile1277=) c.3600T>C (p.Ile1200=) c.3501T>C (p.Ile1167=) c.2682T>C (p.Ile894=) n.4233T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937283A>T | CA483893454 | ATP7B | c.*1664T>A (n.*1664T>A) c.*2758T>A (n.*2758T>A) c.3393T>A (p.Ile1131=) c.4014T>A (p.Ile1338=) c.3681T>A (p.Ile1227=) c.3762T>A (p.Ile1254=) n.1337T>A c.3780T>A (p.Ile1260=) n.4153T>A n.880T>A c.2949T>A (p.Ile983=) c.2724T>A (p.Ile908=) c.3819T>A (p.Ile1273=) c.1792T>A c.*1115T>A (n.*1115T>A) n.4758T>A n.3359T>A c.3870T>A (p.Ile1290=) c.3918T>A (p.Ile1306=) c.3978T>A (p.Ile1326=) c.3528T>A (p.Ile1176=) c.1830T>A (p.Ile610=) c.1647T>A (p.Ile549=) c.3879T>A (p.Ile1293=) c.3831T>A (p.Ile1277=) c.3600T>A (p.Ile1200=) c.3501T>A (p.Ile1167=) c.2682T>A (p.Ile894=) n.4233T>A | ClinVar dbSNP gnomAD v4 |
13 | g.51937284A>C | CA388020786 | ATP7B | c.*1663T>G (n.*1663T>G) c.*2757T>G (n.*2757T>G) c.3392T>G (p.Ile1131Ser) c.4013T>G (p.Ile1338Ser) c.3680T>G (p.Ile1227Ser) c.3761T>G (p.Ile1254Ser) n.1336T>G c.3779T>G (p.Ile1260Ser) n.4152T>G n.879T>G c.2948T>G (p.Ile983Ser) c.2723T>G (p.Ile908Ser) c.3818T>G (p.Ile1273Ser) c.1791T>G c.*1114T>G (n.*1114T>G) n.4757T>G n.3358T>G c.3869T>G (p.Ile1290Ser) c.3917T>G (p.Ile1306Ser) c.3977T>G (p.Ile1326Ser) c.3527T>G (p.Ile1176Ser) c.1829T>G (p.Ile610Ser) c.1646T>G (p.Ile549Ser) c.3878T>G (p.Ile1293Ser) c.3830T>G (p.Ile1277Ser) c.3599T>G (p.Ile1200Ser) c.3500T>G (p.Ile1167Ser) c.2681T>G (p.Ile894Ser) n.4232T>G | |
13 | g.51937284A>G | CA388020789 | ATP7B | c.*1663T>C (n.*1663T>C) c.*2757T>C (n.*2757T>C) c.3392T>C (p.Ile1131Thr) c.4013T>C (p.Ile1338Thr) c.3680T>C (p.Ile1227Thr) c.3761T>C (p.Ile1254Thr) n.1336T>C c.3779T>C (p.Ile1260Thr) n.4152T>C n.879T>C c.2948T>C (p.Ile983Thr) c.2723T>C (p.Ile908Thr) c.3818T>C (p.Ile1273Thr) c.1791T>C c.*1114T>C (n.*1114T>C) n.4757T>C n.3358T>C c.3869T>C (p.Ile1290Thr) c.3917T>C (p.Ile1306Thr) c.3977T>C (p.Ile1326Thr) c.3527T>C (p.Ile1176Thr) c.1829T>C (p.Ile610Thr) c.1646T>C (p.Ile549Thr) c.3878T>C (p.Ile1293Thr) c.3830T>C (p.Ile1277Thr) c.3599T>C (p.Ile1200Thr) c.3500T>C (p.Ile1167Thr) c.2681T>C (p.Ile894Thr) n.4232T>C | |
13 | g.51937284A>T | CA388020791 | ATP7B | c.*1663T>A (n.*1663T>A) c.*2757T>A (n.*2757T>A) c.3392T>A (p.Ile1131Asn) c.4013T>A (p.Ile1338Asn) c.3680T>A (p.Ile1227Asn) c.3761T>A (p.Ile1254Asn) n.1336T>A c.3779T>A (p.Ile1260Asn) n.4152T>A n.879T>A c.2948T>A (p.Ile983Asn) c.2723T>A (p.Ile908Asn) c.3818T>A (p.Ile1273Asn) c.1791T>A c.*1114T>A (n.*1114T>A) n.4757T>A n.3358T>A c.3869T>A (p.Ile1290Asn) c.3917T>A (p.Ile1306Asn) c.3977T>A (p.Ile1326Asn) c.3527T>A (p.Ile1176Asn) c.1829T>A (p.Ile610Asn) c.1646T>A (p.Ile549Asn) c.3878T>A (p.Ile1293Asn) c.3830T>A (p.Ile1277Asn) c.3599T>A (p.Ile1200Asn) c.3500T>A (p.Ile1167Asn) c.2681T>A (p.Ile894Asn) n.4232T>A | |
13 | g.51937285T>A | CA388020793 | ATP7B | c.*1662A>T (n.*1662A>T) c.*2756A>T (n.*2756A>T) c.3391A>T (p.Ile1131Phe) c.4012A>T (p.Ile1338Phe) c.3679A>T (p.Ile1227Phe) c.3760A>T (p.Ile1254Phe) n.1335A>T c.3778A>T (p.Ile1260Phe) n.4151A>T n.878A>T c.2947A>T (p.Ile983Phe) c.2722A>T (p.Ile908Phe) c.3817A>T (p.Ile1273Phe) c.1790A>T c.*1113A>T (n.*1113A>T) n.4756A>T n.3357A>T c.3868A>T (p.Ile1290Phe) c.3916A>T (p.Ile1306Phe) c.3976A>T (p.Ile1326Phe) c.3526A>T (p.Ile1176Phe) c.1828A>T (p.Ile610Phe) c.1645A>T (p.Ile549Phe) c.3877A>T (p.Ile1293Phe) c.3829A>T (p.Ile1277Phe) c.3598A>T (p.Ile1200Phe) c.3499A>T (p.Ile1167Phe) c.2680A>T (p.Ile894Phe) n.4231A>T | |
13 | g.51937285T>C | CA6988520 | ATP7B | c.*1662A>G (n.*1662A>G) c.*2756A>G (n.*2756A>G) c.3391A>G (p.Ile1131Val) c.4012A>G (p.Ile1338Val) c.3679A>G (p.Ile1227Val) c.3760A>G (p.Ile1254Val) n.1335A>G c.3778A>G (p.Ile1260Val) n.4151A>G n.878A>G c.2947A>G (p.Ile983Val) c.2722A>G (p.Ile908Val) c.3817A>G (p.Ile1273Val) c.1790A>G c.*1113A>G (n.*1113A>G) n.4756A>G n.3357A>G c.3868A>G (p.Ile1290Val) c.3916A>G (p.Ile1306Val) c.3976A>G (p.Ile1326Val) c.3526A>G (p.Ile1176Val) c.1828A>G (p.Ile610Val) c.1645A>G (p.Ile549Val) c.3877A>G (p.Ile1293Val) c.3829A>G (p.Ile1277Val) c.3598A>G (p.Ile1200Val) c.3499A>G (p.Ile1167Val) c.2680A>G (p.Ile894Val) n.4231A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937285T>G | CA388020797 | ATP7B | c.*1662A>C (n.*1662A>C) c.*2756A>C (n.*2756A>C) c.3391A>C (p.Ile1131Leu) c.4012A>C (p.Ile1338Leu) c.3679A>C (p.Ile1227Leu) c.3760A>C (p.Ile1254Leu) n.1335A>C c.3778A>C (p.Ile1260Leu) n.4151A>C n.878A>C c.2947A>C (p.Ile983Leu) c.2722A>C (p.Ile908Leu) c.3817A>C (p.Ile1273Leu) c.1790A>C c.*1113A>C (n.*1113A>C) n.4756A>C n.3357A>C c.3868A>C (p.Ile1290Leu) c.3916A>C (p.Ile1306Leu) c.3976A>C (p.Ile1326Leu) c.3526A>C (p.Ile1176Leu) c.1828A>C (p.Ile610Leu) c.1645A>C (p.Ile549Leu) c.3877A>C (p.Ile1293Leu) c.3829A>C (p.Ile1277Leu) c.3598A>C (p.Ile1200Leu) c.3499A>C (p.Ile1167Leu) c.2680A>C (p.Ile894Leu) n.4231A>C | |
13 | g.51937285T= | CA2091553310 | ATP7B | c.*1662A= (n.*1662A=) c.*2756A= (n.*2756A=) c.3391A= (p.Ile1131=) c.4012A= (p.Ile1338=) c.3679A= (p.Ile1227=) c.3760A= (p.Ile1254=) n.1335A= c.3778A= (p.Ile1260=) n.4151A= n.878A= c.2947A= (p.Ile983=) c.2722A= (p.Ile908=) c.3817A= (p.Ile1273=) c.1790A= c.*1113A= (n.*1113A=) n.4756A= n.3357A= c.3868A= (p.Ile1290=) c.3916A= (p.Ile1306=) c.3976A= (p.Ile1326=) c.3526A= (p.Ile1176=) c.1828A= (p.Ile610=) c.1645A= (p.Ile549=) c.3877A= (p.Ile1293=) c.3829A= (p.Ile1277=) c.3598A= (p.Ile1200=) c.3499A= (p.Ile1167=) c.2680A= (p.Ile894=) n.4231A= | |
13 | g.51937286G>A | CA483893458 | ATP7B | c.*1661C>T (n.*1661C>T) c.*2755C>T (n.*2755C>T) c.3390C>T (p.Pro1130=) c.4011C>T (p.Pro1337=) c.3678C>T (p.Pro1226=) c.3759C>T (p.Pro1253=) n.1334C>T c.3777C>T (p.Pro1259=) n.4150C>T n.877C>T c.2946C>T (p.Pro982=) c.2721C>T (p.Pro907=) c.3816C>T (p.Pro1272=) c.1789C>T c.*1112C>T (n.*1112C>T) n.4755C>T n.3356C>T c.3867C>T (p.Pro1289=) c.3915C>T (p.Pro1305=) c.3975C>T (p.Pro1325=) c.3525C>T (p.Pro1175=) c.1827C>T (p.Pro609=) c.1644C>T (p.Pro548=) c.3876C>T (p.Pro1292=) c.3828C>T (p.Pro1276=) c.3597C>T (p.Pro1199=) c.3498C>T (p.Pro1166=) c.2679C>T (p.Pro893=) n.4230C>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937286G>C | CA483893456 | ATP7B | c.*1661C>G (n.*1661C>G) c.*2755C>G (n.*2755C>G) c.3390C>G (p.Pro1130=) c.4011C>G (p.Pro1337=) c.3678C>G (p.Pro1226=) c.3759C>G (p.Pro1253=) n.1334C>G c.3777C>G (p.Pro1259=) n.4150C>G n.877C>G c.2946C>G (p.Pro982=) c.2721C>G (p.Pro907=) c.3816C>G (p.Pro1272=) c.1789C>G c.*1112C>G (n.*1112C>G) n.4755C>G n.3356C>G c.3867C>G (p.Pro1289=) c.3915C>G (p.Pro1305=) c.3975C>G (p.Pro1325=) c.3525C>G (p.Pro1175=) c.1827C>G (p.Pro609=) c.1644C>G (p.Pro548=) c.3876C>G (p.Pro1292=) c.3828C>G (p.Pro1276=) c.3597C>G (p.Pro1199=) c.3498C>G (p.Pro1166=) c.2679C>G (p.Pro893=) n.4230C>G | dbSNP |
13 | g.51937286G= | CA2091553312 | ATP7B | c.*1661C= (n.*1661C=) c.*2755C= (n.*2755C=) c.3390C= (p.Pro1130=) c.4011C= (p.Pro1337=) c.3678C= (p.Pro1226=) c.3759C= (p.Pro1253=) n.1334C= c.3777C= (p.Pro1259=) n.4150C= n.877C= c.2946C= (p.Pro982=) c.2721C= (p.Pro907=) c.3816C= (p.Pro1272=) c.1789C= c.*1112C= (n.*1112C=) n.4755C= n.3356C= c.3867C= (p.Pro1289=) c.3915C= (p.Pro1305=) c.3975C= (p.Pro1325=) c.3525C= (p.Pro1175=) c.1827C= (p.Pro609=) c.1644C= (p.Pro548=) c.3876C= (p.Pro1292=) c.3828C= (p.Pro1276=) c.3597C= (p.Pro1199=) c.3498C= (p.Pro1166=) c.2679C= (p.Pro893=) n.4230C= | |
13 | g.51937286G>T | CA483893455 | ATP7B | c.*1661C>A (n.*1661C>A) c.*2755C>A (n.*2755C>A) c.3390C>A (p.Pro1130=) c.4011C>A (p.Pro1337=) c.3678C>A (p.Pro1226=) c.3759C>A (p.Pro1253=) n.1334C>A c.3777C>A (p.Pro1259=) n.4150C>A n.877C>A c.2946C>A (p.Pro982=) c.2721C>A (p.Pro907=) c.3816C>A (p.Pro1272=) c.1789C>A c.*1112C>A (n.*1112C>A) n.4755C>A n.3356C>A c.3867C>A (p.Pro1289=) c.3915C>A (p.Pro1305=) c.3975C>A (p.Pro1325=) c.3525C>A (p.Pro1175=) c.1827C>A (p.Pro609=) c.1644C>A (p.Pro548=) c.3876C>A (p.Pro1292=) c.3828C>A (p.Pro1276=) c.3597C>A (p.Pro1199=) c.3498C>A (p.Pro1166=) c.2679C>A (p.Pro893=) n.4230C>A | ClinVar dbSNP |
13 | g.51937288dup | CA2623119054 | ATP7B | c.*1661dup (n.*1661dup) c.*2755dup (n.*2755dup) c.3390dup (p.Ile1131HisfsTer?) c.4011dup (p.Ile1338HisfsTer?) c.3678dup (p.Ile1227HisfsTer?) c.3759dup (p.Ile1254HisfsTer?) n.1334dup c.3777dup (p.Ile1260HisfsTer?) n.4150dup n.877dup c.2946dup (p.Ile983HisfsTer?) c.2721dup (p.Ile908HisfsTer?) c.3816dup (p.Ile1273HisfsTer?) c.1789dup c.*1112dup (n.*1112dup) n.4755dup n.3356dup c.3867dup (p.Ile1290HisfsTer?) c.3915dup (p.Ile1306HisfsTer?) c.3975dup (p.Ile1326HisfsTer?) c.3525dup (p.Ile1176HisfsTer?) c.1827dup (p.Ile610HisfsTer?) c.1644dup (p.Ile549HisfsTer?) c.3876dup (p.Ile1293HisfsTer?) c.3828dup (p.Ile1277HisfsTer?) c.3597dup (p.Ile1200HisfsTer?) c.3498dup (p.Ile1167HisfsTer?) c.2679dup (p.Ile894HisfsTer?) n.4230dup | ClinVar gnomAD v4 |
13 | g.51937288del | CA2580087695 | ATP7B | c.*1661del (n.*1661del) c.*2755del (n.*2755del) c.3390del (p.Ile1131LeufsTer?) c.4011del (p.Ile1338LeufsTer?) c.3678del (p.Ile1227LeufsTer?) c.3759del (p.Ile1254LeufsTer?) n.1334del c.3777del (p.Ile1260LeufsTer?) n.4150del n.877del c.2946del (p.Ile983LeufsTer?) c.2721del (p.Ile908LeufsTer?) c.3816del (p.Ile1273LeufsTer?) c.1789del c.*1112del (n.*1112del) n.4755del n.3356del c.3867del (p.Ile1290LeufsTer?) c.3915del (p.Ile1306LeufsTer?) c.3975del (p.Ile1326LeufsTer?) c.3525del (p.Ile1176LeufsTer?) c.1827del (p.Ile610LeufsTer?) c.1644del (p.Ile549LeufsTer?) c.3876del (p.Ile1293LeufsTer?) c.3828del (p.Ile1277LeufsTer?) c.3597del (p.Ile1200LeufsTer?) c.3498del (p.Ile1167LeufsTer?) c.2679del (p.Ile894LeufsTer?) n.4230del | ClinVar |
13 | g.51937287G>A | CA388020800 | ATP7B | c.*1660C>T (n.*1660C>T) c.*2754C>T (n.*2754C>T) c.3389C>T (p.Pro1130Leu) c.4010C>T (p.Pro1337Leu) c.3677C>T (p.Pro1226Leu) c.3758C>T (p.Pro1253Leu) n.1333C>T c.3776C>T (p.Pro1259Leu) n.4149C>T n.876C>T c.2945C>T (p.Pro982Leu) c.2720C>T (p.Pro907Leu) c.3815C>T (p.Pro1272Leu) c.1788C>T c.*1111C>T (n.*1111C>T) n.4754C>T n.3355C>T c.3866C>T (p.Pro1289Leu) c.3914C>T (p.Pro1305Leu) c.3974C>T (p.Pro1325Leu) c.3524C>T (p.Pro1175Leu) c.1826C>T (p.Pro609Leu) c.1643C>T (p.Pro548Leu) c.3875C>T (p.Pro1292Leu) c.3827C>T (p.Pro1276Leu) c.3596C>T (p.Pro1199Leu) c.3497C>T (p.Pro1166Leu) c.2678C>T (p.Pro893Leu) n.4229C>T | dbSNP |
13 | g.51937287G>C | CA388020801 | ATP7B | c.*1660C>G (n.*1660C>G) c.*2754C>G (n.*2754C>G) c.3389C>G (p.Pro1130Arg) c.4010C>G (p.Pro1337Arg) c.3677C>G (p.Pro1226Arg) c.3758C>G (p.Pro1253Arg) n.1333C>G c.3776C>G (p.Pro1259Arg) n.4149C>G n.876C>G c.2945C>G (p.Pro982Arg) c.2720C>G (p.Pro907Arg) c.3815C>G (p.Pro1272Arg) c.1788C>G c.*1111C>G (n.*1111C>G) n.4754C>G n.3355C>G c.3866C>G (p.Pro1289Arg) c.3914C>G (p.Pro1305Arg) c.3974C>G (p.Pro1325Arg) c.3524C>G (p.Pro1175Arg) c.1826C>G (p.Pro609Arg) c.1643C>G (p.Pro548Arg) c.3875C>G (p.Pro1292Arg) c.3827C>G (p.Pro1276Arg) c.3596C>G (p.Pro1199Arg) c.3497C>G (p.Pro1166Arg) c.2678C>G (p.Pro893Arg) n.4229C>G | |
13 | g.51937287G= | CA2091553315 | ATP7B | c.*1660C= (n.*1660C=) c.*2754C= (n.*2754C=) c.3389C= (p.Pro1130=) c.4010C= (p.Pro1337=) c.3677C= (p.Pro1226=) c.3758C= (p.Pro1253=) n.1333C= c.3776C= (p.Pro1259=) n.4149C= n.876C= c.2945C= (p.Pro982=) c.2720C= (p.Pro907=) c.3815C= (p.Pro1272=) c.1788C= c.*1111C= (n.*1111C=) n.4754C= n.3355C= c.3866C= (p.Pro1289=) c.3914C= (p.Pro1305=) c.3974C= (p.Pro1325=) c.3524C= (p.Pro1175=) c.1826C= (p.Pro609=) c.1643C= (p.Pro548=) c.3875C= (p.Pro1292=) c.3827C= (p.Pro1276=) c.3596C= (p.Pro1199=) c.3497C= (p.Pro1166=) c.2678C= (p.Pro893=) n.4229C= | |
13 | g.51937287G>T | CA388020802 | ATP7B | c.*1660C>A (n.*1660C>A) c.*2754C>A (n.*2754C>A) c.3389C>A (p.Pro1130His) c.4010C>A (p.Pro1337His) c.3677C>A (p.Pro1226His) c.3758C>A (p.Pro1253His) n.1333C>A c.3776C>A (p.Pro1259His) n.4149C>A n.876C>A c.2945C>A (p.Pro982His) c.2720C>A (p.Pro907His) c.3815C>A (p.Pro1272His) c.1788C>A c.*1111C>A (n.*1111C>A) n.4754C>A n.3355C>A c.3866C>A (p.Pro1289His) c.3914C>A (p.Pro1305His) c.3974C>A (p.Pro1325His) c.3524C>A (p.Pro1175His) c.1826C>A (p.Pro609His) c.1643C>A (p.Pro548His) c.3875C>A (p.Pro1292His) c.3827C>A (p.Pro1276His) c.3596C>A (p.Pro1199His) c.3497C>A (p.Pro1166His) c.2678C>A (p.Pro893His) n.4229C>A | |
13 | g.51937288G>A | CA388020803 | ATP7B | c.*1659C>T (n.*1659C>T) c.*2753C>T (n.*2753C>T) c.3388C>T (p.Pro1130Ser) c.4009C>T (p.Pro1337Ser) c.3676C>T (p.Pro1226Ser) c.3757C>T (p.Pro1253Ser) n.1332C>T c.3775C>T (p.Pro1259Ser) n.4148C>T n.875C>T c.2944C>T (p.Pro982Ser) c.2719C>T (p.Pro907Ser) c.3814C>T (p.Pro1272Ser) c.1787C>T c.*1110C>T (n.*1110C>T) n.4753C>T n.3354C>T c.3865C>T (p.Pro1289Ser) c.3913C>T (p.Pro1305Ser) c.3973C>T (p.Pro1325Ser) c.3523C>T (p.Pro1175Ser) c.1825C>T (p.Pro609Ser) c.1642C>T (p.Pro548Ser) c.3874C>T (p.Pro1292Ser) c.3826C>T (p.Pro1276Ser) c.3595C>T (p.Pro1199Ser) c.3496C>T (p.Pro1166Ser) c.2677C>T (p.Pro893Ser) n.4228C>T | |
13 | g.51937288G>C | CA388020804 | ATP7B | c.*1659C>G (n.*1659C>G) c.*2753C>G (n.*2753C>G) c.3388C>G (p.Pro1130Ala) c.4009C>G (p.Pro1337Ala) c.3676C>G (p.Pro1226Ala) c.3757C>G (p.Pro1253Ala) n.1332C>G c.3775C>G (p.Pro1259Ala) n.4148C>G n.875C>G c.2944C>G (p.Pro982Ala) c.2719C>G (p.Pro907Ala) c.3814C>G (p.Pro1272Ala) c.1787C>G c.*1110C>G (n.*1110C>G) n.4753C>G n.3354C>G c.3865C>G (p.Pro1289Ala) c.3913C>G (p.Pro1305Ala) c.3973C>G (p.Pro1325Ala) c.3523C>G (p.Pro1175Ala) c.1825C>G (p.Pro609Ala) c.1642C>G (p.Pro548Ala) c.3874C>G (p.Pro1292Ala) c.3826C>G (p.Pro1276Ala) c.3595C>G (p.Pro1199Ala) c.3496C>G (p.Pro1166Ala) c.2677C>G (p.Pro893Ala) n.4228C>G | |
13 | g.51937288G>T | CA388020806 | ATP7B | c.*1659C>A (n.*1659C>A) c.*2753C>A (n.*2753C>A) c.3388C>A (p.Pro1130Thr) c.4009C>A (p.Pro1337Thr) c.3676C>A (p.Pro1226Thr) c.3757C>A (p.Pro1253Thr) n.1332C>A c.3775C>A (p.Pro1259Thr) n.4148C>A n.875C>A c.2944C>A (p.Pro982Thr) c.2719C>A (p.Pro907Thr) c.3814C>A (p.Pro1272Thr) c.1787C>A c.*1110C>A (n.*1110C>A) n.4753C>A n.3354C>A c.3865C>A (p.Pro1289Thr) c.3913C>A (p.Pro1305Thr) c.3973C>A (p.Pro1325Thr) c.3523C>A (p.Pro1175Thr) c.1825C>A (p.Pro609Thr) c.1642C>A (p.Pro548Thr) c.3874C>A (p.Pro1292Thr) c.3826C>A (p.Pro1276Thr) c.3595C>A (p.Pro1199Thr) c.3496C>A (p.Pro1166Thr) c.2677C>A (p.Pro893Thr) n.4228C>A | |
13 | g.51937289T>A | CA483893459 | ATP7B | c.*1658A>T (n.*1658A>T) c.*2752A>T (n.*2752A>T) c.3387A>T (p.Ile1129=) c.4008A>T (p.Ile1336=) c.3675A>T (p.Ile1225=) c.3756A>T (p.Ile1252=) n.1331A>T c.3774A>T (p.Ile1258=) n.4147A>T n.874A>T c.2943A>T (p.Ile981=) c.2718A>T (p.Ile906=) c.3813A>T (p.Ile1271=) c.1786A>T c.*1109A>T (n.*1109A>T) n.4752A>T n.3353A>T c.3864A>T (p.Ile1288=) c.3912A>T (p.Ile1304=) c.3972A>T (p.Ile1324=) c.3522A>T (p.Ile1174=) c.1824A>T (p.Ile608=) c.1641A>T (p.Ile547=) c.3873A>T (p.Ile1291=) c.3825A>T (p.Ile1275=) c.3594A>T (p.Ile1198=) c.3495A>T (p.Ile1165=) c.2676A>T (p.Ile892=) n.4227A>T | |
13 | g.51937289T>C | CA388020808 | ATP7B | c.*1658A>G (n.*1658A>G) c.*2752A>G (n.*2752A>G) c.3387A>G (p.Ile1129Met) c.4008A>G (p.Ile1336Met) c.3675A>G (p.Ile1225Met) c.3756A>G (p.Ile1252Met) n.1331A>G c.3774A>G (p.Ile1258Met) n.4147A>G n.874A>G c.2943A>G (p.Ile981Met) c.2718A>G (p.Ile906Met) c.3813A>G (p.Ile1271Met) c.1786A>G c.*1109A>G (n.*1109A>G) n.4752A>G n.3353A>G c.3864A>G (p.Ile1288Met) c.3912A>G (p.Ile1304Met) c.3972A>G (p.Ile1324Met) c.3522A>G (p.Ile1174Met) c.1824A>G (p.Ile608Met) c.1641A>G (p.Ile547Met) c.3873A>G (p.Ile1291Met) c.3825A>G (p.Ile1275Met) c.3594A>G (p.Ile1198Met) c.3495A>G (p.Ile1165Met) c.2676A>G (p.Ile892Met) n.4227A>G | |
13 | g.51937289T>G | CA483893460 | ATP7B | c.*1658A>C (n.*1658A>C) c.*2752A>C (n.*2752A>C) c.3387A>C (p.Ile1129=) c.4008A>C (p.Ile1336=) c.3675A>C (p.Ile1225=) c.3756A>C (p.Ile1252=) n.1331A>C c.3774A>C (p.Ile1258=) n.4147A>C n.874A>C c.2943A>C (p.Ile981=) c.2718A>C (p.Ile906=) c.3813A>C (p.Ile1271=) c.1786A>C c.*1109A>C (n.*1109A>C) n.4752A>C n.3353A>C c.3864A>C (p.Ile1288=) c.3912A>C (p.Ile1304=) c.3972A>C (p.Ile1324=) c.3522A>C (p.Ile1174=) c.1824A>C (p.Ile608=) c.1641A>C (p.Ile547=) c.3873A>C (p.Ile1291=) c.3825A>C (p.Ile1275=) c.3594A>C (p.Ile1198=) c.3495A>C (p.Ile1165=) c.2676A>C (p.Ile892=) n.4227A>C | |
13 | g.51937290_51937291del | CA912974790 | ATP7B | c.*1657_*1658del (n.*1657_*1658del) c.*2751_*2752del (n.*2751_*2752del) c.3386_3387del (p.Ile1129ThrfsTer?) c.4007_4008del (p.Ile1336ThrfsTer?) c.3674_3675del (p.Ile1225ThrfsTer?) c.3755_3756del (p.Ile1252ThrfsTer?) n.1330_1331del c.3773_3774del (p.Ile1258ThrfsTer?) n.4146_4147del n.873_874del c.2942_2943del (p.Ile981ThrfsTer?) c.2717_2718del (p.Ile906ThrfsTer?) c.3812_3813del (p.Ile1271ThrfsTer?) c.1785_1786del c.*1108_*1109del (n.*1108_*1109del) n.4751_4752del n.3352_3353del c.3863_3864del (p.Ile1288ThrfsTer?) c.3911_3912del (p.Ile1304ThrfsTer?) c.3971_3972del (p.Ile1324ThrfsTer?) c.3521_3522del (p.Ile1174ThrfsTer?) c.1823_1824del (p.Ile608ThrfsTer?) c.1640_1641del (p.Ile547ThrfsTer?) c.3872_3873del (p.Ile1291ThrfsTer?) c.3824_3825del (p.Ile1275ThrfsTer?) c.3593_3594del (p.Ile1198ThrfsTer?) c.3494_3495del (p.Ile1165ThrfsTer?) c.2675_2676del (p.Ile892ThrfsTer?) n.4226_4227del | |
13 | g.51937290A= | CA2091553320 | ATP7B | c.*1657T= (n.*1657T=) c.*2751T= (n.*2751T=) c.3386T= (p.Ile1129=) c.4007T= (p.Ile1336=) c.3674T= (p.Ile1225=) c.3755T= (p.Ile1252=) n.1330T= c.3773T= (p.Ile1258=) n.4146T= n.873T= c.2942T= (p.Ile981=) c.2717T= (p.Ile906=) c.3812T= (p.Ile1271=) c.1785T= c.*1108T= (n.*1108T=) n.4751T= n.3352T= c.3863T= (p.Ile1288=) c.3911T= (p.Ile1304=) c.3971T= (p.Ile1324=) c.3521T= (p.Ile1174=) c.1823T= (p.Ile608=) c.1640T= (p.Ile547=) c.3872T= (p.Ile1291=) c.3824T= (p.Ile1275=) c.3593T= (p.Ile1198=) c.3494T= (p.Ile1165=) c.2675T= (p.Ile892=) n.4226T= | |
13 | g.51937290A>C | CA388020813 | ATP7B | c.*1657T>G (n.*1657T>G) c.*2751T>G (n.*2751T>G) c.3386T>G (p.Ile1129Arg) c.4007T>G (p.Ile1336Arg) c.3674T>G (p.Ile1225Arg) c.3755T>G (p.Ile1252Arg) n.1330T>G c.3773T>G (p.Ile1258Arg) n.4146T>G n.873T>G c.2942T>G (p.Ile981Arg) c.2717T>G (p.Ile906Arg) c.3812T>G (p.Ile1271Arg) c.1785T>G c.*1108T>G (n.*1108T>G) n.4751T>G n.3352T>G c.3863T>G (p.Ile1288Arg) c.3911T>G (p.Ile1304Arg) c.3971T>G (p.Ile1324Arg) c.3521T>G (p.Ile1174Arg) c.1823T>G (p.Ile608Arg) c.1640T>G (p.Ile547Arg) c.3872T>G (p.Ile1291Arg) c.3824T>G (p.Ile1275Arg) c.3593T>G (p.Ile1198Arg) c.3494T>G (p.Ile1165Arg) c.2675T>G (p.Ile892Arg) n.4226T>G | |
13 | g.51937290A>G | CA388020811 | ATP7B | c.*1657T>C (n.*1657T>C) c.*2751T>C (n.*2751T>C) c.3386T>C (p.Ile1129Thr) c.4007T>C (p.Ile1336Thr) c.3674T>C (p.Ile1225Thr) c.3755T>C (p.Ile1252Thr) n.1330T>C c.3773T>C (p.Ile1258Thr) n.4146T>C n.873T>C c.2942T>C (p.Ile981Thr) c.2717T>C (p.Ile906Thr) c.3812T>C (p.Ile1271Thr) c.1785T>C c.*1108T>C (n.*1108T>C) n.4751T>C n.3352T>C c.3863T>C (p.Ile1288Thr) c.3911T>C (p.Ile1304Thr) c.3971T>C (p.Ile1324Thr) c.3521T>C (p.Ile1174Thr) c.1823T>C (p.Ile608Thr) c.1640T>C (p.Ile547Thr) c.3872T>C (p.Ile1291Thr) c.3824T>C (p.Ile1275Thr) c.3593T>C (p.Ile1198Thr) c.3494T>C (p.Ile1165Thr) c.2675T>C (p.Ile892Thr) n.4226T>C | ClinVar dbSNP gnomAD v4 |
13 | g.51937290A>T | CA388020812 | ATP7B | c.*1657T>A (n.*1657T>A) c.*2751T>A (n.*2751T>A) c.3386T>A (p.Ile1129Lys) c.4007T>A (p.Ile1336Lys) c.3674T>A (p.Ile1225Lys) c.3755T>A (p.Ile1252Lys) n.1330T>A c.3773T>A (p.Ile1258Lys) n.4146T>A n.873T>A c.2942T>A (p.Ile981Lys) c.2717T>A (p.Ile906Lys) c.3812T>A (p.Ile1271Lys) c.1785T>A c.*1108T>A (n.*1108T>A) n.4751T>A n.3352T>A c.3863T>A (p.Ile1288Lys) c.3911T>A (p.Ile1304Lys) c.3971T>A (p.Ile1324Lys) c.3521T>A (p.Ile1174Lys) c.1823T>A (p.Ile608Lys) c.1640T>A (p.Ile547Lys) c.3872T>A (p.Ile1291Lys) c.3824T>A (p.Ile1275Lys) c.3593T>A (p.Ile1198Lys) c.3494T>A (p.Ile1165Lys) c.2675T>A (p.Ile892Lys) n.4226T>A | |
13 | g.51937290_51937291delinsAT | CA2091553318 | ATP7B | c.*1656_*1657delinsAT (n.*1656_*1657delinsAT) c.*2750_*2751delinsAT (n.*2750_*2751delinsAT) c.3385_3386delinsAT (p.Ile1129=) c.4006_4007delinsAT (p.Ile1336=) c.3673_3674delinsAT (p.Ile1225=) c.3754_3755delinsAT (p.Ile1252=) n.1329_1330delinsAT c.3772_3773delinsAT (p.Ile1258=) n.4145_4146delinsAT n.872_873delinsAT c.2941_2942delinsAT (p.Ile981=) c.2716_2717delinsAT (p.Ile906=) c.3811_3812delinsAT (p.Ile1271=) c.1784_1785delinsAT c.*1107_*1108delinsAT (n.*1107_*1108delinsAT) n.4750_4751delinsAT n.3351_3352delinsAT c.3862_3863delinsAT (p.Ile1288=) c.3910_3911delinsAT (p.Ile1304=) c.3970_3971delinsAT (p.Ile1324=) c.3520_3521delinsAT (p.Ile1174=) c.1822_1823delinsAT (p.Ile608=) c.1639_1640delinsAT (p.Ile547=) c.3871_3872delinsAT (p.Ile1291=) c.3823_3824delinsAT (p.Ile1275=) c.3592_3593delinsAT (p.Ile1198=) c.3493_3494delinsAT (p.Ile1165=) c.2674_2675delinsAT (p.Ile892=) n.4225_4226delinsAT | |
13 | g.51937291del | CA658823693 | ATP7B | c.*1656del (n.*1656del) c.*2750del (n.*2750del) c.3385del (p.Ile1129TyrfsTer?) c.4006del (p.Ile1336TyrfsTer?) c.3673del (p.Ile1225TyrfsTer?) c.3754del (p.Ile1252TyrfsTer?) n.1329del c.3772del (p.Ile1258TyrfsTer?) n.4145del n.872del c.2941del (p.Ile981TyrfsTer?) c.2716del (p.Ile906TyrfsTer?) c.3811del (p.Ile1271TyrfsTer?) c.1784del c.*1107del (n.*1107del) n.4750del n.3351del c.3862del (p.Ile1288TyrfsTer?) c.3910del (p.Ile1304TyrfsTer?) c.3970del (p.Ile1324TyrfsTer?) c.3520del (p.Ile1174TyrfsTer?) c.1822del (p.Ile608TyrfsTer?) c.1639del (p.Ile547TyrfsTer?) c.3871del (p.Ile1291TyrfsTer?) c.3823del (p.Ile1275TyrfsTer?) c.3592del (p.Ile1198TyrfsTer?) c.3493del (p.Ile1165TyrfsTer?) c.2674del (p.Ile892TyrfsTer?) n.4225del | ClinVar dbSNP |
13 | g.51937291T>A | CA388020814 | ATP7B | c.*1656A>T (n.*1656A>T) c.*2750A>T (n.*2750A>T) c.3385A>T (p.Ile1129Leu) c.4006A>T (p.Ile1336Leu) c.3673A>T (p.Ile1225Leu) c.3754A>T (p.Ile1252Leu) n.1329A>T c.3772A>T (p.Ile1258Leu) n.4145A>T n.872A>T c.2941A>T (p.Ile981Leu) c.2716A>T (p.Ile906Leu) c.3811A>T (p.Ile1271Leu) c.1784A>T c.*1107A>T (n.*1107A>T) n.4750A>T n.3351A>T c.3862A>T (p.Ile1288Leu) c.3910A>T (p.Ile1304Leu) c.3970A>T (p.Ile1324Leu) c.3520A>T (p.Ile1174Leu) c.1822A>T (p.Ile608Leu) c.1639A>T (p.Ile547Leu) c.3871A>T (p.Ile1291Leu) c.3823A>T (p.Ile1275Leu) c.3592A>T (p.Ile1198Leu) c.3493A>T (p.Ile1165Leu) c.2674A>T (p.Ile892Leu) n.4225A>T | |
13 | g.51937291T>C | CA388020815 | ATP7B | c.*1656A>G (n.*1656A>G) c.*2750A>G (n.*2750A>G) c.3385A>G (p.Ile1129Val) c.4006A>G (p.Ile1336Val) c.3673A>G (p.Ile1225Val) c.3754A>G (p.Ile1252Val) n.1329A>G c.3772A>G (p.Ile1258Val) n.4145A>G n.872A>G c.2941A>G (p.Ile981Val) c.2716A>G (p.Ile906Val) c.3811A>G (p.Ile1271Val) c.1784A>G c.*1107A>G (n.*1107A>G) n.4750A>G n.3351A>G c.3862A>G (p.Ile1288Val) c.3910A>G (p.Ile1304Val) c.3970A>G (p.Ile1324Val) c.3520A>G (p.Ile1174Val) c.1822A>G (p.Ile608Val) c.1639A>G (p.Ile547Val) c.3871A>G (p.Ile1291Val) c.3823A>G (p.Ile1275Val) c.3592A>G (p.Ile1198Val) c.3493A>G (p.Ile1165Val) c.2674A>G (p.Ile892Val) n.4225A>G | |
13 | g.51937291T>G | CA388020816 | ATP7B | c.*1656A>C (n.*1656A>C) c.*2750A>C (n.*2750A>C) c.3385A>C (p.Ile1129Leu) c.4006A>C (p.Ile1336Leu) c.3673A>C (p.Ile1225Leu) c.3754A>C (p.Ile1252Leu) n.1329A>C c.3772A>C (p.Ile1258Leu) n.4145A>C n.872A>C c.2941A>C (p.Ile981Leu) c.2716A>C (p.Ile906Leu) c.3811A>C (p.Ile1271Leu) c.1784A>C c.*1107A>C (n.*1107A>C) n.4750A>C n.3351A>C c.3862A>C (p.Ile1288Leu) c.3910A>C (p.Ile1304Leu) c.3970A>C (p.Ile1324Leu) c.3520A>C (p.Ile1174Leu) c.1822A>C (p.Ile608Leu) c.1639A>C (p.Ile547Leu) c.3871A>C (p.Ile1291Leu) c.3823A>C (p.Ile1275Leu) c.3592A>C (p.Ile1198Leu) c.3493A>C (p.Ile1165Leu) c.2674A>C (p.Ile892Leu) n.4225A>C | |
13 | g.51937292C>A | CA483893461 | ATP7B | c.*1655G>T (n.*1655G>T) c.*2749G>T (n.*2749G>T) c.3384G>T (p.Gly1128=) c.4005G>T (p.Gly1335=) c.3672G>T (p.Gly1224=) c.3753G>T (p.Gly1251=) n.1328G>T c.3771G>T (p.Gly1257=) n.4144G>T n.871G>T c.2940G>T (p.Gly980=) c.2715G>T (p.Gly905=) c.3810G>T (p.Gly1270=) c.1783G>T c.*1106G>T (n.*1106G>T) n.4749G>T n.3350G>T c.3861G>T (p.Gly1287=) c.3909G>T (p.Gly1303=) c.3969G>T (p.Gly1323=) c.3519G>T (p.Gly1173=) c.1821G>T (p.Gly607=) c.1638G>T (p.Gly546=) c.3870G>T (p.Gly1290=) c.3822G>T (p.Gly1274=) c.3591G>T (p.Gly1197=) c.3492G>T (p.Gly1164=) c.2673G>T (p.Gly891=) n.4224G>T | |
13 | g.51937292C>G | CA483893462 | ATP7B | c.*1655G>C (n.*1655G>C) c.*2749G>C (n.*2749G>C) c.3384G>C (p.Gly1128=) c.4005G>C (p.Gly1335=) c.3672G>C (p.Gly1224=) c.3753G>C (p.Gly1251=) n.1328G>C c.3771G>C (p.Gly1257=) n.4144G>C n.871G>C c.2940G>C (p.Gly980=) c.2715G>C (p.Gly905=) c.3810G>C (p.Gly1270=) c.1783G>C c.*1106G>C (n.*1106G>C) n.4749G>C n.3350G>C c.3861G>C (p.Gly1287=) c.3909G>C (p.Gly1303=) c.3969G>C (p.Gly1323=) c.3519G>C (p.Gly1173=) c.1821G>C (p.Gly607=) c.1638G>C (p.Gly546=) c.3870G>C (p.Gly1290=) c.3822G>C (p.Gly1274=) c.3591G>C (p.Gly1197=) c.3492G>C (p.Gly1164=) c.2673G>C (p.Gly891=) n.4224G>C | |
13 | g.51937292C>T | CA483893463 | ATP7B | c.*1655G>A (n.*1655G>A) c.*2749G>A (n.*2749G>A) c.3384G>A (p.Gly1128=) c.4005G>A (p.Gly1335=) c.3672G>A (p.Gly1224=) c.3753G>A (p.Gly1251=) n.1328G>A c.3771G>A (p.Gly1257=) n.4144G>A n.871G>A c.2940G>A (p.Gly980=) c.2715G>A (p.Gly905=) c.3810G>A (p.Gly1270=) c.1783G>A c.*1106G>A (n.*1106G>A) n.4749G>A n.3350G>A c.3861G>A (p.Gly1287=) c.3909G>A (p.Gly1303=) c.3969G>A (p.Gly1323=) c.3519G>A (p.Gly1173=) c.1821G>A (p.Gly607=) c.1638G>A (p.Gly546=) c.3870G>A (p.Gly1290=) c.3822G>A (p.Gly1274=) c.3591G>A (p.Gly1197=) c.3492G>A (p.Gly1164=) c.2673G>A (p.Gly891=) n.4224G>A | |
13 | g.51937292_51937293insGCAACCCATTATAAC | CA2695218730 | ATP7B | c.*1655_*1656insTTATAATGGGTTGCG (n.*1655_*1656insTTATAATGGGTTGCG) c.*2749_*2750insTTATAATGGGTTGCG (n.*2749_*2750insTTATAATGGGTTGCG) c.3384_3385insTTATAATGGGTTGCG c.4005_4006insTTATAATGGGTTGCG c.3672_3673insTTATAATGGGTTGCG c.3753_3754insTTATAATGGGTTGCG n.1328_1329insTTATAATGGGTTGCG c.3771_3772insTTATAATGGGTTGCG n.4144_4145insTTATAATGGGTTGCG n.871_872insTTATAATGGGTTGCG c.2940_2941insTTATAATGGGTTGCG c.2715_2716insTTATAATGGGTTGCG c.3810_3811insTTATAATGGGTTGCG c.1783_1784insTTATAATGGGTTGCG c.*1106_*1107insTTATAATGGGTTGCG (n.*1106_*1107insTTATAATGGGTTGCG) n.4749_4750insTTATAATGGGTTGCG n.3350_3351insTTATAATGGGTTGCG c.3861_3862insTTATAATGGGTTGCG c.3909_3910insTTATAATGGGTTGCG c.3969_3970insTTATAATGGGTTGCG c.3519_3520insTTATAATGGGTTGCG c.1821_1822insTTATAATGGGTTGCG c.1638_1639insTTATAATGGGTTGCG c.3870_3871insTTATAATGGGTTGCG c.3822_3823insTTATAATGGGTTGCG c.3591_3592insTTATAATGGGTTGCG c.3492_3493insTTATAATGGGTTGCG c.2673_2674insTTATAATGGGTTGCG n.4224_4225insTTATAATGGGTTGCG | |
13 | g.51937294dup | CA2623119056 | ATP7B | c.*1655dup (n.*1655dup) c.*2749dup (n.*2749dup) c.3384dup (p.Ile1129AspfsTer?) c.4005dup (p.Ile1336AspfsTer?) c.3672dup (p.Ile1225AspfsTer?) c.3753dup (p.Ile1252AspfsTer?) n.1328dup c.3771dup (p.Ile1258AspfsTer?) n.4144dup n.871dup c.2940dup (p.Ile981AspfsTer?) c.2715dup (p.Ile906AspfsTer?) c.3810dup (p.Ile1271AspfsTer?) c.1783dup c.*1106dup (n.*1106dup) n.4749dup n.3350dup c.3861dup (p.Ile1288AspfsTer?) c.3909dup (p.Ile1304AspfsTer?) c.3969dup (p.Ile1324AspfsTer?) c.3519dup (p.Ile1174AspfsTer?) c.1821dup (p.Ile608AspfsTer?) c.1638dup (p.Ile547AspfsTer?) c.3870dup (p.Ile1291AspfsTer?) c.3822dup (p.Ile1275AspfsTer?) c.3591dup (p.Ile1198AspfsTer?) c.3492dup (p.Ile1165AspfsTer?) c.2673dup (p.Ile892AspfsTer?) n.4224dup | gnomAD v4 |
13 | g.51937298_51937299insCATTATAACCCAACC | CA2695218731 | ATP7B | c.*1655_*1656insTTATAATGGGTTGGG (n.*1655_*1656insTTATAATGGGTTGGG) c.*2749_*2750insTTATAATGGGTTGGG (n.*2749_*2750insTTATAATGGGTTGGG) c.3384_3385insTTATAATGGGTTGGG c.4005_4006insTTATAATGGGTTGGG c.3672_3673insTTATAATGGGTTGGG c.3753_3754insTTATAATGGGTTGGG n.1328_1329insTTATAATGGGTTGGG c.3771_3772insTTATAATGGGTTGGG n.4144_4145insTTATAATGGGTTGGG n.871_872insTTATAATGGGTTGGG c.2940_2941insTTATAATGGGTTGGG c.2715_2716insTTATAATGGGTTGGG c.3810_3811insTTATAATGGGTTGGG c.1783_1784insTTATAATGGGTTGGG c.*1106_*1107insTTATAATGGGTTGGG (n.*1106_*1107insTTATAATGGGTTGGG) n.4749_4750insTTATAATGGGTTGGG n.3350_3351insTTATAATGGGTTGGG c.3861_3862insTTATAATGGGTTGGG c.3909_3910insTTATAATGGGTTGGG c.3969_3970insTTATAATGGGTTGGG c.3519_3520insTTATAATGGGTTGGG c.1821_1822insTTATAATGGGTTGGG c.1638_1639insTTATAATGGGTTGGG c.3870_3871insTTATAATGGGTTGGG c.3822_3823insTTATAATGGGTTGGG c.3591_3592insTTATAATGGGTTGGG c.3492_3493insTTATAATGGGTTGGG c.2673_2674insTTATAATGGGTTGGG n.4224_4225insTTATAATGGGTTGGG | |
13 | g.51937293C>A | CA388020818 | ATP7B | c.*1654G>T (n.*1654G>T) c.*2748G>T (n.*2748G>T) c.3383G>T (p.Gly1128Val) c.4004G>T (p.Gly1335Val) c.3671G>T (p.Gly1224Val) c.3752G>T (p.Gly1251Val) n.1327G>T c.3770G>T (p.Gly1257Val) n.4143G>T n.870G>T c.2939G>T (p.Gly980Val) c.2714G>T (p.Gly905Val) c.3809G>T (p.Gly1270Val) c.1782G>T c.*1105G>T (n.*1105G>T) n.4748G>T n.3349G>T c.3860G>T (p.Gly1287Val) c.3908G>T (p.Gly1303Val) c.3968G>T (p.Gly1323Val) c.3518G>T (p.Gly1173Val) c.1820G>T (p.Gly607Val) c.1637G>T (p.Gly546Val) c.3869G>T (p.Gly1290Val) c.3821G>T (p.Gly1274Val) c.3590G>T (p.Gly1197Val) c.3491G>T (p.Gly1164Val) c.2672G>T (p.Gly891Val) n.4223G>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937293C= | CA2091553331 | ATP7B | c.*1654G= (n.*1654G=) c.*2748G= (n.*2748G=) c.3383G= (p.Gly1128=) c.4004G= (p.Gly1335=) c.3671G= (p.Gly1224=) c.3752G= (p.Gly1251=) n.1327G= c.3770G= (p.Gly1257=) n.4143G= n.870G= c.2939G= (p.Gly980=) c.2714G= (p.Gly905=) c.3809G= (p.Gly1270=) c.1782G= c.*1105G= (n.*1105G=) n.4748G= n.3349G= c.3860G= (p.Gly1287=) c.3908G= (p.Gly1303=) c.3968G= (p.Gly1323=) c.3518G= (p.Gly1173=) c.1820G= (p.Gly607=) c.1637G= (p.Gly546=) c.3869G= (p.Gly1290=) c.3821G= (p.Gly1274=) c.3590G= (p.Gly1197=) c.3491G= (p.Gly1164=) c.2672G= (p.Gly891=) n.4223G= | |
13 | g.51937293C>G | CA388020821 | ATP7B | c.*1654G>C (n.*1654G>C) c.*2748G>C (n.*2748G>C) c.3383G>C (p.Gly1128Ala) c.4004G>C (p.Gly1335Ala) c.3671G>C (p.Gly1224Ala) c.3752G>C (p.Gly1251Ala) n.1327G>C c.3770G>C (p.Gly1257Ala) n.4143G>C n.870G>C c.2939G>C (p.Gly980Ala) c.2714G>C (p.Gly905Ala) c.3809G>C (p.Gly1270Ala) c.1782G>C c.*1105G>C (n.*1105G>C) n.4748G>C n.3349G>C c.3860G>C (p.Gly1287Ala) c.3908G>C (p.Gly1303Ala) c.3968G>C (p.Gly1323Ala) c.3518G>C (p.Gly1173Ala) c.1820G>C (p.Gly607Ala) c.1637G>C (p.Gly546Ala) c.3869G>C (p.Gly1290Ala) c.3821G>C (p.Gly1274Ala) c.3590G>C (p.Gly1197Ala) c.3491G>C (p.Gly1164Ala) c.2672G>C (p.Gly891Ala) n.4223G>C | |
13 | g.51937293C>T | CA388020824 | ATP7B | c.*1654G>A (n.*1654G>A) c.*2748G>A (n.*2748G>A) c.3383G>A (p.Gly1128Glu) c.4004G>A (p.Gly1335Glu) c.3671G>A (p.Gly1224Glu) c.3752G>A (p.Gly1251Glu) n.1327G>A c.3770G>A (p.Gly1257Glu) n.4143G>A n.870G>A c.2939G>A (p.Gly980Glu) c.2714G>A (p.Gly905Glu) c.3809G>A (p.Gly1270Glu) c.1782G>A c.*1105G>A (n.*1105G>A) n.4748G>A n.3349G>A c.3860G>A (p.Gly1287Glu) c.3908G>A (p.Gly1303Glu) c.3968G>A (p.Gly1323Glu) c.3518G>A (p.Gly1173Glu) c.1820G>A (p.Gly607Glu) c.1637G>A (p.Gly546Glu) c.3869G>A (p.Gly1290Glu) c.3821G>A (p.Gly1274Glu) c.3590G>A (p.Gly1197Glu) c.3491G>A (p.Gly1164Glu) c.2672G>A (p.Gly891Glu) n.4223G>A | |
13 | g.51937294C>A | CA388020827 | ATP7B | c.*1653G>T (n.*1653G>T) c.*2747G>T (n.*2747G>T) c.3382G>T (p.Gly1128Trp) c.4003G>T (p.Gly1335Trp) c.3670G>T (p.Gly1224Trp) c.3751G>T (p.Gly1251Trp) n.1326G>T c.3769G>T (p.Gly1257Trp) n.4142G>T n.869G>T c.2938G>T (p.Gly980Trp) c.2713G>T (p.Gly905Trp) c.3808G>T (p.Gly1270Trp) c.1781G>T c.*1104G>T (n.*1104G>T) n.4747G>T n.3348G>T c.3859G>T (p.Gly1287Trp) c.3907G>T (p.Gly1303Trp) c.3967G>T (p.Gly1323Trp) c.3517G>T (p.Gly1173Trp) c.1819G>T (p.Gly607Trp) c.1636G>T (p.Gly546Trp) c.3868G>T (p.Gly1290Trp) c.3820G>T (p.Gly1274Trp) c.3589G>T (p.Gly1197Trp) c.3490G>T (p.Gly1164Trp) c.2671G>T (p.Gly891Trp) n.4222G>T | |
13 | g.51937294C>G | CA388020828 | ATP7B | c.*1653G>C (n.*1653G>C) c.*2747G>C (n.*2747G>C) c.3382G>C (p.Gly1128Arg) c.4003G>C (p.Gly1335Arg) c.3670G>C (p.Gly1224Arg) c.3751G>C (p.Gly1251Arg) n.1326G>C c.3769G>C (p.Gly1257Arg) n.4142G>C n.869G>C c.2938G>C (p.Gly980Arg) c.2713G>C (p.Gly905Arg) c.3808G>C (p.Gly1270Arg) c.1781G>C c.*1104G>C (n.*1104G>C) n.4747G>C n.3348G>C c.3859G>C (p.Gly1287Arg) c.3907G>C (p.Gly1303Arg) c.3967G>C (p.Gly1323Arg) c.3517G>C (p.Gly1173Arg) c.1819G>C (p.Gly607Arg) c.1636G>C (p.Gly546Arg) c.3868G>C (p.Gly1290Arg) c.3820G>C (p.Gly1274Arg) c.3589G>C (p.Gly1197Arg) c.3490G>C (p.Gly1164Arg) c.2671G>C (p.Gly891Arg) n.4222G>C | |
13 | g.51937294C>T | CA388020829 | ATP7B | c.*1653G>A (n.*1653G>A) c.*2747G>A (n.*2747G>A) c.3382G>A (p.Gly1128Arg) c.4003G>A (p.Gly1335Arg) c.3670G>A (p.Gly1224Arg) c.3751G>A (p.Gly1251Arg) n.1326G>A c.3769G>A (p.Gly1257Arg) n.4142G>A n.869G>A c.2938G>A (p.Gly980Arg) c.2713G>A (p.Gly905Arg) c.3808G>A (p.Gly1270Arg) c.1781G>A c.*1104G>A (n.*1104G>A) n.4747G>A n.3348G>A c.3859G>A (p.Gly1287Arg) c.3907G>A (p.Gly1303Arg) c.3967G>A (p.Gly1323Arg) c.3517G>A (p.Gly1173Arg) c.1819G>A (p.Gly607Arg) c.1636G>A (p.Gly546Arg) c.3868G>A (p.Gly1290Arg) c.3820G>A (p.Gly1274Arg) c.3589G>A (p.Gly1197Arg) c.3490G>A (p.Gly1164Arg) c.2671G>A (p.Gly891Arg) n.4222G>A | ClinVar |
13 | g.51937295A>C | CA483893464 | ATP7B | c.*1652T>G (n.*1652T>G) c.*2746T>G (n.*2746T>G) c.3381T>G (p.Val1127=) c.4002T>G (p.Val1334=) c.3669T>G (p.Val1223=) c.3750T>G (p.Val1250=) n.1325T>G c.3768T>G (p.Val1256=) n.4141T>G n.868T>G c.2937T>G (p.Val979=) c.2712T>G (p.Val904=) c.3807T>G (p.Val1269=) c.1780T>G c.*1103T>G (n.*1103T>G) n.4746T>G n.3347T>G c.3858T>G (p.Val1286=) c.3906T>G (p.Val1302=) c.3966T>G (p.Val1322=) c.3516T>G (p.Val1172=) c.1818T>G (p.Val606=) c.1635T>G (p.Val545=) c.3867T>G (p.Val1289=) c.3819T>G (p.Val1273=) c.3588T>G (p.Val1196=) c.3489T>G (p.Val1163=) c.2670T>G (p.Val890=) n.4221T>G | |
13 | g.51937295A>G | CA483893465 | ATP7B | c.*1652T>C (n.*1652T>C) c.*2746T>C (n.*2746T>C) c.3381T>C (p.Val1127=) c.4002T>C (p.Val1334=) c.3669T>C (p.Val1223=) c.3750T>C (p.Val1250=) n.1325T>C c.3768T>C (p.Val1256=) n.4141T>C n.868T>C c.2937T>C (p.Val979=) c.2712T>C (p.Val904=) c.3807T>C (p.Val1269=) c.1780T>C c.*1103T>C (n.*1103T>C) n.4746T>C n.3347T>C c.3858T>C (p.Val1286=) c.3906T>C (p.Val1302=) c.3966T>C (p.Val1322=) c.3516T>C (p.Val1172=) c.1818T>C (p.Val606=) c.1635T>C (p.Val545=) c.3867T>C (p.Val1289=) c.3819T>C (p.Val1273=) c.3588T>C (p.Val1196=) c.3489T>C (p.Val1163=) c.2670T>C (p.Val890=) n.4221T>C | |
13 | g.51937295A>T | CA483893466 | ATP7B | c.*1652T>A (n.*1652T>A) c.*2746T>A (n.*2746T>A) c.3381T>A (p.Val1127=) c.4002T>A (p.Val1334=) c.3669T>A (p.Val1223=) c.3750T>A (p.Val1250=) n.1325T>A c.3768T>A (p.Val1256=) n.4141T>A n.868T>A c.2937T>A (p.Val979=) c.2712T>A (p.Val904=) c.3807T>A (p.Val1269=) c.1780T>A c.*1103T>A (n.*1103T>A) n.4746T>A n.3347T>A c.3858T>A (p.Val1286=) c.3906T>A (p.Val1302=) c.3966T>A (p.Val1322=) c.3516T>A (p.Val1172=) c.1818T>A (p.Val606=) c.1635T>A (p.Val545=) c.3867T>A (p.Val1289=) c.3819T>A (p.Val1273=) c.3588T>A (p.Val1196=) c.3489T>A (p.Val1163=) c.2670T>A (p.Val890=) n.4221T>A | |
13 | g.51937296A>C | CA388020830 | ATP7B | c.*1651T>G (n.*1651T>G) c.*2745T>G (n.*2745T>G) c.3380T>G (p.Val1127Gly) c.4001T>G (p.Val1334Gly) c.3668T>G (p.Val1223Gly) c.3749T>G (p.Val1250Gly) n.1324T>G c.3767T>G (p.Val1256Gly) n.4140T>G n.867T>G c.2936T>G (p.Val979Gly) c.2711T>G (p.Val904Gly) c.3806T>G (p.Val1269Gly) c.1779T>G c.*1102T>G (n.*1102T>G) n.4745T>G n.3346T>G c.3857T>G (p.Val1286Gly) c.3905T>G (p.Val1302Gly) c.3965T>G (p.Val1322Gly) c.3515T>G (p.Val1172Gly) c.1817T>G (p.Val606Gly) c.1634T>G (p.Val545Gly) c.3866T>G (p.Val1289Gly) c.3818T>G (p.Val1273Gly) c.3587T>G (p.Val1196Gly) c.3488T>G (p.Val1163Gly) c.2669T>G (p.Val890Gly) n.4220T>G | |
13 | g.51937296A>G | CA388020831 | ATP7B | c.*1651T>C (n.*1651T>C) c.*2745T>C (n.*2745T>C) c.3380T>C (p.Val1127Ala) c.4001T>C (p.Val1334Ala) c.3668T>C (p.Val1223Ala) c.3749T>C (p.Val1250Ala) n.1324T>C c.3767T>C (p.Val1256Ala) n.4140T>C n.867T>C c.2936T>C (p.Val979Ala) c.2711T>C (p.Val904Ala) c.3806T>C (p.Val1269Ala) c.1779T>C c.*1102T>C (n.*1102T>C) n.4745T>C n.3346T>C c.3857T>C (p.Val1286Ala) c.3905T>C (p.Val1302Ala) c.3965T>C (p.Val1322Ala) c.3515T>C (p.Val1172Ala) c.1817T>C (p.Val606Ala) c.1634T>C (p.Val545Ala) c.3866T>C (p.Val1289Ala) c.3818T>C (p.Val1273Ala) c.3587T>C (p.Val1196Ala) c.3488T>C (p.Val1163Ala) c.2669T>C (p.Val890Ala) n.4220T>C | |
13 | g.51937296A>T | CA388020832 | ATP7B | c.*1651T>A (n.*1651T>A) c.*2745T>A (n.*2745T>A) c.3380T>A (p.Val1127Asp) c.4001T>A (p.Val1334Asp) c.3668T>A (p.Val1223Asp) c.3749T>A (p.Val1250Asp) n.1324T>A c.3767T>A (p.Val1256Asp) n.4140T>A n.867T>A c.2936T>A (p.Val979Asp) c.2711T>A (p.Val904Asp) c.3806T>A (p.Val1269Asp) c.1779T>A c.*1102T>A (n.*1102T>A) n.4745T>A n.3346T>A c.3857T>A (p.Val1286Asp) c.3905T>A (p.Val1302Asp) c.3965T>A (p.Val1322Asp) c.3515T>A (p.Val1172Asp) c.1817T>A (p.Val606Asp) c.1634T>A (p.Val545Asp) c.3866T>A (p.Val1289Asp) c.3818T>A (p.Val1273Asp) c.3587T>A (p.Val1196Asp) c.3488T>A (p.Val1163Asp) c.2669T>A (p.Val890Asp) n.4220T>A | |
13 | g.51937297C>A | CA388020839 | ATP7B | c.*1650G>T (n.*1650G>T) c.*2744G>T (n.*2744G>T) c.3379G>T (p.Val1127Phe) c.4000G>T (p.Val1334Phe) c.3667G>T (p.Val1223Phe) c.3748G>T (p.Val1250Phe) n.1323G>T c.3766G>T (p.Val1256Phe) n.4139G>T n.866G>T c.2935G>T (p.Val979Phe) c.2710G>T (p.Val904Phe) c.3805G>T (p.Val1269Phe) c.1778G>T c.*1101G>T (n.*1101G>T) n.4744G>T n.3345G>T c.3856G>T (p.Val1286Phe) c.3904G>T (p.Val1302Phe) c.3964G>T (p.Val1322Phe) c.3514G>T (p.Val1172Phe) c.1816G>T (p.Val606Phe) c.1633G>T (p.Val545Phe) c.3865G>T (p.Val1289Phe) c.3817G>T (p.Val1273Phe) c.3586G>T (p.Val1196Phe) c.3487G>T (p.Val1163Phe) c.2668G>T (p.Val890Phe) n.4219G>T | dbSNP |
13 | g.51937297C= | CA2091553337 | ATP7B | c.*1650G= (n.*1650G=) c.*2744G= (n.*2744G=) c.3379G= (p.Val1127=) c.4000G= (p.Val1334=) c.3667G= (p.Val1223=) c.3748G= (p.Val1250=) n.1323G= c.3766G= (p.Val1256=) n.4139G= n.866G= c.2935G= (p.Val979=) c.2710G= (p.Val904=) c.3805G= (p.Val1269=) c.1778G= c.*1101G= (n.*1101G=) n.4744G= n.3345G= c.3856G= (p.Val1286=) c.3904G= (p.Val1302=) c.3964G= (p.Val1322=) c.3514G= (p.Val1172=) c.1816G= (p.Val606=) c.1633G= (p.Val545=) c.3865G= (p.Val1289=) c.3817G= (p.Val1273=) c.3586G= (p.Val1196=) c.3487G= (p.Val1163=) c.2668G= (p.Val890=) n.4219G= | |
13 | g.51937297C>G | CA388020842 | ATP7B | c.*1650G>C (n.*1650G>C) c.*2744G>C (n.*2744G>C) c.3379G>C (p.Val1127Leu) c.4000G>C (p.Val1334Leu) c.3667G>C (p.Val1223Leu) c.3748G>C (p.Val1250Leu) n.1323G>C c.3766G>C (p.Val1256Leu) n.4139G>C n.866G>C c.2935G>C (p.Val979Leu) c.2710G>C (p.Val904Leu) c.3805G>C (p.Val1269Leu) c.1778G>C c.*1101G>C (n.*1101G>C) n.4744G>C n.3345G>C c.3856G>C (p.Val1286Leu) c.3904G>C (p.Val1302Leu) c.3964G>C (p.Val1322Leu) c.3514G>C (p.Val1172Leu) c.1816G>C (p.Val606Leu) c.1633G>C (p.Val545Leu) c.3865G>C (p.Val1289Leu) c.3817G>C (p.Val1273Leu) c.3586G>C (p.Val1196Leu) c.3487G>C (p.Val1163Leu) c.2668G>C (p.Val890Leu) n.4219G>C | dbSNP |
13 | g.51937297C>T | CA388020836 | ATP7B | c.*1650G>A (n.*1650G>A) c.*2744G>A (n.*2744G>A) c.3379G>A (p.Val1127Ile) c.4000G>A (p.Val1334Ile) c.3667G>A (p.Val1223Ile) c.3748G>A (p.Val1250Ile) n.1323G>A c.3766G>A (p.Val1256Ile) n.4139G>A n.866G>A c.2935G>A (p.Val979Ile) c.2710G>A (p.Val904Ile) c.3805G>A (p.Val1269Ile) c.1778G>A c.*1101G>A (n.*1101G>A) n.4744G>A n.3345G>A c.3856G>A (p.Val1286Ile) c.3904G>A (p.Val1302Ile) c.3964G>A (p.Val1322Ile) c.3514G>A (p.Val1172Ile) c.1816G>A (p.Val606Ile) c.1633G>A (p.Val545Ile) c.3865G>A (p.Val1289Ile) c.3817G>A (p.Val1273Ile) c.3586G>A (p.Val1196Ile) c.3487G>A (p.Val1163Ile) c.2668G>A (p.Val890Ile) n.4219G>A | |
13 | g.51937298C>A | CA250073339 | ATP7B | c.*1649G>T (n.*1649G>T) c.*2743G>T (n.*2743G>T) c.3378G>T (p.Leu1126=) c.3999G>T (p.Leu1333=) c.3666G>T (p.Leu1222=) c.3747G>T (p.Leu1249=) n.1322G>T c.3765G>T (p.Leu1255=) n.4138G>T n.865G>T c.2934G>T (p.Leu978=) c.2709G>T (p.Leu903=) c.3804G>T (p.Leu1268=) c.1777G>T c.*1100G>T (n.*1100G>T) n.4743G>T n.3344G>T c.3855G>T (p.Leu1285=) c.3903G>T (p.Leu1301=) c.3963G>T (p.Leu1321=) c.3513G>T (p.Leu1171=) c.1815G>T (p.Leu605=) c.1632G>T (p.Leu544=) c.3864G>T (p.Leu1288=) c.3816G>T (p.Leu1272=) c.3585G>T (p.Leu1195=) c.3486G>T (p.Leu1162=) c.2667G>T (p.Leu889=) n.4218G>T | dbSNP |
13 | g.51937298C= | CA2091553344 | ATP7B | c.*1649G= (n.*1649G=) c.*2743G= (n.*2743G=) c.3378G= (p.Leu1126=) c.3999G= (p.Leu1333=) c.3666G= (p.Leu1222=) c.3747G= (p.Leu1249=) n.1322G= c.3765G= (p.Leu1255=) n.4138G= n.865G= c.2934G= (p.Leu978=) c.2709G= (p.Leu903=) c.3804G= (p.Leu1268=) c.1777G= c.*1100G= (n.*1100G=) n.4743G= n.3344G= c.3855G= (p.Leu1285=) c.3903G= (p.Leu1301=) c.3963G= (p.Leu1321=) c.3513G= (p.Leu1171=) c.1815G= (p.Leu605=) c.1632G= (p.Leu544=) c.3864G= (p.Leu1288=) c.3816G= (p.Leu1272=) c.3585G= (p.Leu1195=) c.3486G= (p.Leu1162=) c.2667G= (p.Leu889=) n.4218G= | |
13 | g.51937298C>G | CA483893467 | ATP7B | c.*1649G>C (n.*1649G>C) c.*2743G>C (n.*2743G>C) c.3378G>C (p.Leu1126=) c.3999G>C (p.Leu1333=) c.3666G>C (p.Leu1222=) c.3747G>C (p.Leu1249=) n.1322G>C c.3765G>C (p.Leu1255=) n.4138G>C n.865G>C c.2934G>C (p.Leu978=) c.2709G>C (p.Leu903=) c.3804G>C (p.Leu1268=) c.1777G>C c.*1100G>C (n.*1100G>C) n.4743G>C n.3344G>C c.3855G>C (p.Leu1285=) c.3903G>C (p.Leu1301=) c.3963G>C (p.Leu1321=) c.3513G>C (p.Leu1171=) c.1815G>C (p.Leu605=) c.1632G>C (p.Leu544=) c.3864G>C (p.Leu1288=) c.3816G>C (p.Leu1272=) c.3585G>C (p.Leu1195=) c.3486G>C (p.Leu1162=) c.2667G>C (p.Leu889=) n.4218G>C | ClinVar dbSNP |
13 | g.51937298C>T | CA6988521 | ATP7B | c.*1649G>A (n.*1649G>A) c.*2743G>A (n.*2743G>A) c.3378G>A (p.Leu1126=) c.3999G>A (p.Leu1333=) c.3666G>A (p.Leu1222=) c.3747G>A (p.Leu1249=) n.1322G>A c.3765G>A (p.Leu1255=) n.4138G>A n.865G>A c.2934G>A (p.Leu978=) c.2709G>A (p.Leu903=) c.3804G>A (p.Leu1268=) c.1777G>A c.*1100G>A (n.*1100G>A) n.4743G>A n.3344G>A c.3855G>A (p.Leu1285=) c.3903G>A (p.Leu1301=) c.3963G>A (p.Leu1321=) c.3513G>A (p.Leu1171=) c.1815G>A (p.Leu605=) c.1632G>A (p.Leu544=) c.3864G>A (p.Leu1288=) c.3816G>A (p.Leu1272=) c.3585G>A (p.Leu1195=) c.3486G>A (p.Leu1162=) c.2667G>A (p.Leu889=) n.4218G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937299A>C | CA388020849 | ATP7B | c.*1648T>G (n.*1648T>G) c.*2742T>G (n.*2742T>G) c.3377T>G (p.Leu1126Arg) c.3998T>G (p.Leu1333Arg) c.3665T>G (p.Leu1222Arg) c.3746T>G (p.Leu1249Arg) n.1321T>G c.3764T>G (p.Leu1255Arg) n.4137T>G n.864T>G c.2933T>G (p.Leu978Arg) c.2708T>G (p.Leu903Arg) c.3803T>G (p.Leu1268Arg) c.1776T>G c.*1099T>G (n.*1099T>G) n.4742T>G n.3343T>G c.3854T>G (p.Leu1285Arg) c.3902T>G (p.Leu1301Arg) c.3962T>G (p.Leu1321Arg) c.3512T>G (p.Leu1171Arg) c.1814T>G (p.Leu605Arg) c.1631T>G (p.Leu544Arg) c.3863T>G (p.Leu1288Arg) c.3815T>G (p.Leu1272Arg) c.3584T>G (p.Leu1195Arg) c.3485T>G (p.Leu1162Arg) c.2666T>G (p.Leu889Arg) n.4217T>G | |
13 | g.51937299A>G | CA388020847 | ATP7B | c.*1648T>C (n.*1648T>C) c.*2742T>C (n.*2742T>C) c.3377T>C (p.Leu1126Pro) c.3998T>C (p.Leu1333Pro) c.3665T>C (p.Leu1222Pro) c.3746T>C (p.Leu1249Pro) n.1321T>C c.3764T>C (p.Leu1255Pro) n.4137T>C n.864T>C c.2933T>C (p.Leu978Pro) c.2708T>C (p.Leu903Pro) c.3803T>C (p.Leu1268Pro) c.1776T>C c.*1099T>C (n.*1099T>C) n.4742T>C n.3343T>C c.3854T>C (p.Leu1285Pro) c.3902T>C (p.Leu1301Pro) c.3962T>C (p.Leu1321Pro) c.3512T>C (p.Leu1171Pro) c.1814T>C (p.Leu605Pro) c.1631T>C (p.Leu544Pro) c.3863T>C (p.Leu1288Pro) c.3815T>C (p.Leu1272Pro) c.3584T>C (p.Leu1195Pro) c.3485T>C (p.Leu1162Pro) c.2666T>C (p.Leu889Pro) n.4217T>C | |
13 | g.51937299A>T | CA388020848 | ATP7B | c.*1648T>A (n.*1648T>A) c.*2742T>A (n.*2742T>A) c.3377T>A (p.Leu1126Gln) c.3998T>A (p.Leu1333Gln) c.3665T>A (p.Leu1222Gln) c.3746T>A (p.Leu1249Gln) n.1321T>A c.3764T>A (p.Leu1255Gln) n.4137T>A n.864T>A c.2933T>A (p.Leu978Gln) c.2708T>A (p.Leu903Gln) c.3803T>A (p.Leu1268Gln) c.1776T>A c.*1099T>A (n.*1099T>A) n.4742T>A n.3343T>A c.3854T>A (p.Leu1285Gln) c.3902T>A (p.Leu1301Gln) c.3962T>A (p.Leu1321Gln) c.3512T>A (p.Leu1171Gln) c.1814T>A (p.Leu605Gln) c.1631T>A (p.Leu544Gln) c.3863T>A (p.Leu1288Gln) c.3815T>A (p.Leu1272Gln) c.3584T>A (p.Leu1195Gln) c.3485T>A (p.Leu1162Gln) c.2666T>A (p.Leu889Gln) n.4217T>A | |
13 | g.51937300G>A | CA483893468 | ATP7B | c.*1647C>T (n.*1647C>T) c.*2741C>T (n.*2741C>T) c.3376C>T (p.Leu1126=) c.3997C>T (p.Leu1333=) c.3664C>T (p.Leu1222=) c.3745C>T (p.Leu1249=) n.1320C>T c.3763C>T (p.Leu1255=) n.4136C>T n.863C>T c.2932C>T (p.Leu978=) c.2707C>T (p.Leu903=) c.3802C>T (p.Leu1268=) c.1775C>T c.*1098C>T (n.*1098C>T) n.4741C>T n.3342C>T c.3853C>T (p.Leu1285=) c.3901C>T (p.Leu1301=) c.3961C>T (p.Leu1321=) c.3511C>T (p.Leu1171=) c.1813C>T (p.Leu605=) c.1630C>T (p.Leu544=) c.3862C>T (p.Leu1288=) c.3814C>T (p.Leu1272=) c.3583C>T (p.Leu1195=) c.3484C>T (p.Leu1162=) c.2665C>T (p.Leu889=) n.4216C>T | |
13 | g.51937300G>C | CA388020850 | ATP7B | c.*1647C>G (n.*1647C>G) c.*2741C>G (n.*2741C>G) c.3376C>G (p.Leu1126Val) c.3997C>G (p.Leu1333Val) c.3664C>G (p.Leu1222Val) c.3745C>G (p.Leu1249Val) n.1320C>G c.3763C>G (p.Leu1255Val) n.4136C>G n.863C>G c.2932C>G (p.Leu978Val) c.2707C>G (p.Leu903Val) c.3802C>G (p.Leu1268Val) c.1775C>G c.*1098C>G (n.*1098C>G) n.4741C>G n.3342C>G c.3853C>G (p.Leu1285Val) c.3901C>G (p.Leu1301Val) c.3961C>G (p.Leu1321Val) c.3511C>G (p.Leu1171Val) c.1813C>G (p.Leu605Val) c.1630C>G (p.Leu544Val) c.3862C>G (p.Leu1288Val) c.3814C>G (p.Leu1272Val) c.3583C>G (p.Leu1195Val) c.3484C>G (p.Leu1162Val) c.2665C>G (p.Leu889Val) n.4216C>G | dbSNP gnomAD v4 |
13 | g.51937300G>T | CA388020851 | ATP7B | c.*1647C>A (n.*1647C>A) c.*2741C>A (n.*2741C>A) c.3376C>A (p.Leu1126Met) c.3997C>A (p.Leu1333Met) c.3664C>A (p.Leu1222Met) c.3745C>A (p.Leu1249Met) n.1320C>A c.3763C>A (p.Leu1255Met) n.4136C>A n.863C>A c.2932C>A (p.Leu978Met) c.2707C>A (p.Leu903Met) c.3802C>A (p.Leu1268Met) c.1775C>A c.*1098C>A (n.*1098C>A) n.4741C>A n.3342C>A c.3853C>A (p.Leu1285Met) c.3901C>A (p.Leu1301Met) c.3961C>A (p.Leu1321Met) c.3511C>A (p.Leu1171Met) c.1813C>A (p.Leu605Met) c.1630C>A (p.Leu544Met) c.3862C>A (p.Leu1288Met) c.3814C>A (p.Leu1272Met) c.3583C>A (p.Leu1195Met) c.3484C>A (p.Leu1162Met) c.2665C>A (p.Leu889Met) n.4216C>A | |
13 | g.51937301G>A | CA483893469 | ATP7B | c.*1646C>T (n.*1646C>T) c.*2740C>T (n.*2740C>T) c.3375C>T (p.Asn1125=) c.3996C>T (p.Asn1332=) c.3663C>T (p.Asn1221=) c.3744C>T (p.Asn1248=) n.1319C>T c.3762C>T (p.Asn1254=) n.4135C>T n.862C>T c.2931C>T (p.Asn977=) c.2706C>T (p.Asn902=) c.3801C>T (p.Asn1267=) c.1774C>T c.*1097C>T (n.*1097C>T) n.4740C>T n.3341C>T c.3852C>T (p.Asn1284=) c.3900C>T (p.Asn1300=) c.3960C>T (p.Asn1320=) c.3510C>T (p.Asn1170=) c.1812C>T (p.Asn604=) c.1629C>T (p.Asn543=) c.3861C>T (p.Asn1287=) c.3813C>T (p.Asn1271=) c.3582C>T (p.Asn1194=) c.3483C>T (p.Asn1161=) c.2664C>T (p.Asn888=) n.4215C>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937301G>C | CA388020853 | ATP7B | c.*1646C>G (n.*1646C>G) c.*2740C>G (n.*2740C>G) c.3375C>G (p.Asn1125Lys) c.3996C>G (p.Asn1332Lys) c.3663C>G (p.Asn1221Lys) c.3744C>G (p.Asn1248Lys) n.1319C>G c.3762C>G (p.Asn1254Lys) n.4135C>G n.862C>G c.2931C>G (p.Asn977Lys) c.2706C>G (p.Asn902Lys) c.3801C>G (p.Asn1267Lys) c.1774C>G c.*1097C>G (n.*1097C>G) n.4740C>G n.3341C>G c.3852C>G (p.Asn1284Lys) c.3900C>G (p.Asn1300Lys) c.3960C>G (p.Asn1320Lys) c.3510C>G (p.Asn1170Lys) c.1812C>G (p.Asn604Lys) c.1629C>G (p.Asn543Lys) c.3861C>G (p.Asn1287Lys) c.3813C>G (p.Asn1271Lys) c.3582C>G (p.Asn1194Lys) c.3483C>G (p.Asn1161Lys) c.2664C>G (p.Asn888Lys) n.4215C>G | |
13 | g.51937301G>T | CA388020854 | ATP7B | c.*1646C>A (n.*1646C>A) c.*2740C>A (n.*2740C>A) c.3375C>A (p.Asn1125Lys) c.3996C>A (p.Asn1332Lys) c.3663C>A (p.Asn1221Lys) c.3744C>A (p.Asn1248Lys) n.1319C>A c.3762C>A (p.Asn1254Lys) n.4135C>A n.862C>A c.2931C>A (p.Asn977Lys) c.2706C>A (p.Asn902Lys) c.3801C>A (p.Asn1267Lys) c.1774C>A c.*1097C>A (n.*1097C>A) n.4740C>A n.3341C>A c.3852C>A (p.Asn1284Lys) c.3900C>A (p.Asn1300Lys) c.3960C>A (p.Asn1320Lys) c.3510C>A (p.Asn1170Lys) c.1812C>A (p.Asn604Lys) c.1629C>A (p.Asn543Lys) c.3861C>A (p.Asn1287Lys) c.3813C>A (p.Asn1271Lys) c.3582C>A (p.Asn1194Lys) c.3483C>A (p.Asn1161Lys) c.2664C>A (p.Asn888Lys) n.4215C>A | |
13 | g.51937302T>A | CA388020857 | ATP7B | c.*1645A>T (n.*1645A>T) c.*2739A>T (n.*2739A>T) c.3374A>T (p.Asn1125Ile) c.3995A>T (p.Asn1332Ile) c.3662A>T (p.Asn1221Ile) c.3743A>T (p.Asn1248Ile) n.1318A>T c.3761A>T (p.Asn1254Ile) n.4134A>T n.861A>T c.2930A>T (p.Asn977Ile) c.2705A>T (p.Asn902Ile) c.3800A>T (p.Asn1267Ile) c.1773A>T c.*1096A>T (n.*1096A>T) n.4739A>T n.3340A>T c.3851A>T (p.Asn1284Ile) c.3899A>T (p.Asn1300Ile) c.3959A>T (p.Asn1320Ile) c.3509A>T (p.Asn1170Ile) c.1811A>T (p.Asn604Ile) c.1628A>T (p.Asn543Ile) c.3860A>T (p.Asn1287Ile) c.3812A>T (p.Asn1271Ile) c.3581A>T (p.Asn1194Ile) c.3482A>T (p.Asn1161Ile) c.2663A>T (p.Asn888Ile) n.4214A>T | |
13 | g.51937302T>C | CA388020858 | ATP7B | c.*1645A>G (n.*1645A>G) c.*2739A>G (n.*2739A>G) c.3374A>G (p.Asn1125Ser) c.3995A>G (p.Asn1332Ser) c.3662A>G (p.Asn1221Ser) c.3743A>G (p.Asn1248Ser) n.1318A>G c.3761A>G (p.Asn1254Ser) n.4134A>G n.861A>G c.2930A>G (p.Asn977Ser) c.2705A>G (p.Asn902Ser) c.3800A>G (p.Asn1267Ser) c.1773A>G c.*1096A>G (n.*1096A>G) n.4739A>G n.3340A>G c.3851A>G (p.Asn1284Ser) c.3899A>G (p.Asn1300Ser) c.3959A>G (p.Asn1320Ser) c.3509A>G (p.Asn1170Ser) c.1811A>G (p.Asn604Ser) c.1628A>G (p.Asn543Ser) c.3860A>G (p.Asn1287Ser) c.3812A>G (p.Asn1271Ser) c.3581A>G (p.Asn1194Ser) c.3482A>G (p.Asn1161Ser) c.2663A>G (p.Asn888Ser) n.4214A>G | |
13 | g.51937302T>G | CA388020860 | ATP7B | c.*1645A>C (n.*1645A>C) c.*2739A>C (n.*2739A>C) c.3374A>C (p.Asn1125Thr) c.3995A>C (p.Asn1332Thr) c.3662A>C (p.Asn1221Thr) c.3743A>C (p.Asn1248Thr) n.1318A>C c.3761A>C (p.Asn1254Thr) n.4134A>C n.861A>C c.2930A>C (p.Asn977Thr) c.2705A>C (p.Asn902Thr) c.3800A>C (p.Asn1267Thr) c.1773A>C c.*1096A>C (n.*1096A>C) n.4739A>C n.3340A>C c.3851A>C (p.Asn1284Thr) c.3899A>C (p.Asn1300Thr) c.3959A>C (p.Asn1320Thr) c.3509A>C (p.Asn1170Thr) c.1811A>C (p.Asn604Thr) c.1628A>C (p.Asn543Thr) c.3860A>C (p.Asn1287Thr) c.3812A>C (p.Asn1271Thr) c.3581A>C (p.Asn1194Thr) c.3482A>C (p.Asn1161Thr) c.2663A>C (p.Asn888Thr) n.4214A>C | |
13 | g.51937303T>A | CA388020863 | ATP7B | c.*1644A>T (n.*1644A>T) c.*2738A>T (n.*2738A>T) c.3373A>T (p.Asn1125Tyr) c.3994A>T (p.Asn1332Tyr) c.3661A>T (p.Asn1221Tyr) c.3742A>T (p.Asn1248Tyr) n.1317A>T c.3760A>T (p.Asn1254Tyr) n.4133A>T n.860A>T c.2929A>T (p.Asn977Tyr) c.2704A>T (p.Asn902Tyr) c.3799A>T (p.Asn1267Tyr) c.1772A>T c.*1095A>T (n.*1095A>T) n.4738A>T n.3339A>T c.3850A>T (p.Asn1284Tyr) c.3898A>T (p.Asn1300Tyr) c.3958A>T (p.Asn1320Tyr) c.3508A>T (p.Asn1170Tyr) c.1810A>T (p.Asn604Tyr) c.1627A>T (p.Asn543Tyr) c.3859A>T (p.Asn1287Tyr) c.3811A>T (p.Asn1271Tyr) c.3580A>T (p.Asn1194Tyr) c.3481A>T (p.Asn1161Tyr) c.2662A>T (p.Asn888Tyr) n.4213A>T | gnomAD v4 |
13 | g.51937303T>C | CA388020866 | ATP7B | c.*1644A>G (n.*1644A>G) c.*2738A>G (n.*2738A>G) c.3373A>G (p.Asn1125Asp) c.3994A>G (p.Asn1332Asp) c.3661A>G (p.Asn1221Asp) c.3742A>G (p.Asn1248Asp) n.1317A>G c.3760A>G (p.Asn1254Asp) n.4133A>G n.860A>G c.2929A>G (p.Asn977Asp) c.2704A>G (p.Asn902Asp) c.3799A>G (p.Asn1267Asp) c.1772A>G c.*1095A>G (n.*1095A>G) n.4738A>G n.3339A>G c.3850A>G (p.Asn1284Asp) c.3898A>G (p.Asn1300Asp) c.3958A>G (p.Asn1320Asp) c.3508A>G (p.Asn1170Asp) c.1810A>G (p.Asn604Asp) c.1627A>G (p.Asn543Asp) c.3859A>G (p.Asn1287Asp) c.3811A>G (p.Asn1271Asp) c.3580A>G (p.Asn1194Asp) c.3481A>G (p.Asn1161Asp) c.2662A>G (p.Asn888Asp) n.4213A>G | |
13 | g.51937303T>G | CA388020869 | ATP7B | c.*1644A>C (n.*1644A>C) c.*2738A>C (n.*2738A>C) c.3373A>C (p.Asn1125His) c.3994A>C (p.Asn1332His) c.3661A>C (p.Asn1221His) c.3742A>C (p.Asn1248His) n.1317A>C c.3760A>C (p.Asn1254His) n.4133A>C n.860A>C c.2929A>C (p.Asn977His) c.2704A>C (p.Asn902His) c.3799A>C (p.Asn1267His) c.1772A>C c.*1095A>C (n.*1095A>C) n.4738A>C n.3339A>C c.3850A>C (p.Asn1284His) c.3898A>C (p.Asn1300His) c.3958A>C (p.Asn1320His) c.3508A>C (p.Asn1170His) c.1810A>C (p.Asn604His) c.1627A>C (p.Asn543His) c.3859A>C (p.Asn1287His) c.3811A>C (p.Asn1271His) c.3580A>C (p.Asn1194His) c.3481A>C (p.Asn1161His) c.2662A>C (p.Asn888His) n.4213A>C | |
13 | g.51937303_51937307delinsTATAA | CA2091553350 | ATP7B | c.*1640_*1644delinsTTATA (n.*1640_*1644delinsTTATA) c.*2734_*2738delinsTTATA (n.*2734_*2738delinsTTATA) c.3369_3373delinsTTATA (p.Ile1123=) c.3990_3994delinsTTATA (p.Ile1330=) c.3657_3661delinsTTATA (p.Ile1219=) c.3738_3742delinsTTATA (p.Ile1246=) n.1313_1317delinsTTATA c.3756_3760delinsTTATA (p.Ile1252=) n.4129_4133delinsTTATA n.856_860delinsTTATA c.2925_2929delinsTTATA (p.Ile975=) c.2700_2704delinsTTATA (p.Ile900=) c.3795_3799delinsTTATA (p.Ile1265=) c.1768_1772delinsTTATA c.*1091_*1095delinsTTATA (n.*1091_*1095delinsTTATA) n.4734_4738delinsTTATA n.3335_3339delinsTTATA c.3846_3850delinsTTATA (p.Ile1282=) c.3894_3898delinsTTATA (p.Ile1298=) c.3954_3958delinsTTATA (p.Ile1318=) c.3504_3508delinsTTATA (p.Ile1168=) c.1806_1810delinsTTATA (p.Ile602=) c.1623_1627delinsTTATA (p.Ile541=) c.3855_3859delinsTTATA (p.Ile1285=) c.3807_3811delinsTTATA (p.Ile1269=) c.3576_3580delinsTTATA (p.Ile1192=) c.3477_3481delinsTTATA (p.Ile1159=) c.2658_2662delinsTTATA (p.Ile886=) n.4209_4213delinsTTATA | |
13 | g.51937304A>C | CA388020874 | ATP7B | c.*1643T>G (n.*1643T>G) c.*2737T>G (n.*2737T>G) c.3372T>G (p.Tyr1124Ter) c.3993T>G (p.Tyr1331Ter) c.3660T>G (p.Tyr1220Ter) c.3741T>G (p.Tyr1247Ter) n.1316T>G c.3759T>G (p.Tyr1253Ter) n.4132T>G n.859T>G c.2928T>G (p.Tyr976Ter) c.2703T>G (p.Tyr901Ter) c.3798T>G (p.Tyr1266Ter) c.1771T>G c.*1094T>G (n.*1094T>G) n.4737T>G n.3338T>G c.3849T>G (p.Tyr1283Ter) c.3897T>G (p.Tyr1299Ter) c.3957T>G (p.Tyr1319Ter) c.3507T>G (p.Tyr1169Ter) c.1809T>G (p.Tyr603Ter) c.1626T>G (p.Tyr542Ter) c.3858T>G (p.Tyr1286Ter) c.3810T>G (p.Tyr1270Ter) c.3579T>G (p.Tyr1193Ter) c.3480T>G (p.Tyr1160Ter) c.2661T>G (p.Tyr887Ter) n.4212T>G | |
13 | g.51937304A>G | CA483893471 | ATP7B | c.*1643T>C (n.*1643T>C) c.*2737T>C (n.*2737T>C) c.3372T>C (p.Tyr1124=) c.3993T>C (p.Tyr1331=) c.3660T>C (p.Tyr1220=) c.3741T>C (p.Tyr1247=) n.1316T>C c.3759T>C (p.Tyr1253=) n.4132T>C n.859T>C c.2928T>C (p.Tyr976=) c.2703T>C (p.Tyr901=) c.3798T>C (p.Tyr1266=) c.1771T>C c.*1094T>C (n.*1094T>C) n.4737T>C n.3338T>C c.3849T>C (p.Tyr1283=) c.3897T>C (p.Tyr1299=) c.3957T>C (p.Tyr1319=) c.3507T>C (p.Tyr1169=) c.1809T>C (p.Tyr603=) c.1626T>C (p.Tyr542=) c.3858T>C (p.Tyr1286=) c.3810T>C (p.Tyr1270=) c.3579T>C (p.Tyr1193=) c.3480T>C (p.Tyr1160=) c.2661T>C (p.Tyr887=) n.4212T>C | |
13 | g.51937304A>T | CA388020872 | ATP7B | c.*1643T>A (n.*1643T>A) c.*2737T>A (n.*2737T>A) c.3372T>A (p.Tyr1124Ter) c.3993T>A (p.Tyr1331Ter) c.3660T>A (p.Tyr1220Ter) c.3741T>A (p.Tyr1247Ter) n.1316T>A c.3759T>A (p.Tyr1253Ter) n.4132T>A n.859T>A c.2928T>A (p.Tyr976Ter) c.2703T>A (p.Tyr901Ter) c.3798T>A (p.Tyr1266Ter) c.1771T>A c.*1094T>A (n.*1094T>A) n.4737T>A n.3338T>A c.3849T>A (p.Tyr1283Ter) c.3897T>A (p.Tyr1299Ter) c.3957T>A (p.Tyr1319Ter) c.3507T>A (p.Tyr1169Ter) c.1809T>A (p.Tyr603Ter) c.1626T>A (p.Tyr542Ter) c.3858T>A (p.Tyr1286Ter) c.3810T>A (p.Tyr1270Ter) c.3579T>A (p.Tyr1193Ter) c.3480T>A (p.Tyr1160Ter) c.2661T>A (p.Tyr887Ter) n.4212T>A | |
13 | g.51937306_51937309del | CA483893470 | ATP7B | c.*1640_*1643del (n.*1640_*1643del) c.*2734_*2737del (n.*2734_*2737del) c.3369_3372del (p.Tyr1124ThrfsTer?) c.3990_3993del (p.Tyr1331ThrfsTer?) c.3657_3660del (p.Tyr1220ThrfsTer?) c.3738_3741del (p.Tyr1247ThrfsTer?) n.1313_1316del c.3756_3759del (p.Tyr1253ThrfsTer?) n.4129_4132del n.856_859del c.2925_2928del (p.Tyr976ThrfsTer?) c.2700_2703del (p.Tyr901ThrfsTer?) c.3795_3798del (p.Tyr1266ThrfsTer?) c.1768_1771del c.*1091_*1094del (n.*1091_*1094del) n.4734_4737del n.3335_3338del c.3846_3849del (p.Tyr1283ThrfsTer?) c.3894_3897del (p.Tyr1299ThrfsTer?) c.3954_3957del (p.Tyr1319ThrfsTer?) c.3504_3507del (p.Tyr1169ThrfsTer?) c.1806_1809del (p.Tyr603ThrfsTer?) c.1623_1626del (p.Tyr542ThrfsTer?) c.3855_3858del (p.Tyr1286ThrfsTer?) c.3807_3810del (p.Tyr1270ThrfsTer?) c.3576_3579del (p.Tyr1193ThrfsTer?) c.3477_3480del (p.Tyr1160ThrfsTer?) c.2658_2661del (p.Tyr887ThrfsTer?) n.4209_4212del | ClinVar dbSNP gnomAD v4 |
13 | g.51937305T>A | CA388020877 | ATP7B | c.*1642A>T (n.*1642A>T) c.*2736A>T (n.*2736A>T) c.3371A>T (p.Tyr1124Phe) c.3992A>T (p.Tyr1331Phe) c.3659A>T (p.Tyr1220Phe) c.3740A>T (p.Tyr1247Phe) n.1315A>T c.3758A>T (p.Tyr1253Phe) n.4131A>T n.858A>T c.2927A>T (p.Tyr976Phe) c.2702A>T (p.Tyr901Phe) c.3797A>T (p.Tyr1266Phe) c.1770A>T c.*1093A>T (n.*1093A>T) n.4736A>T n.3337A>T c.3848A>T (p.Tyr1283Phe) c.3896A>T (p.Tyr1299Phe) c.3956A>T (p.Tyr1319Phe) c.3506A>T (p.Tyr1169Phe) c.1808A>T (p.Tyr603Phe) c.1625A>T (p.Tyr542Phe) c.3857A>T (p.Tyr1286Phe) c.3809A>T (p.Tyr1270Phe) c.3578A>T (p.Tyr1193Phe) c.3479A>T (p.Tyr1160Phe) c.2660A>T (p.Tyr887Phe) n.4211A>T | |
13 | g.51937305T>C | CA388020878 | ATP7B | c.*1642A>G (n.*1642A>G) c.*2736A>G (n.*2736A>G) c.3371A>G (p.Tyr1124Cys) c.3992A>G (p.Tyr1331Cys) c.3659A>G (p.Tyr1220Cys) c.3740A>G (p.Tyr1247Cys) n.1315A>G c.3758A>G (p.Tyr1253Cys) n.4131A>G n.858A>G c.2927A>G (p.Tyr976Cys) c.2702A>G (p.Tyr901Cys) c.3797A>G (p.Tyr1266Cys) c.1770A>G c.*1093A>G (n.*1093A>G) n.4736A>G n.3337A>G c.3848A>G (p.Tyr1283Cys) c.3896A>G (p.Tyr1299Cys) c.3956A>G (p.Tyr1319Cys) c.3506A>G (p.Tyr1169Cys) c.1808A>G (p.Tyr603Cys) c.1625A>G (p.Tyr542Cys) c.3857A>G (p.Tyr1286Cys) c.3809A>G (p.Tyr1270Cys) c.3578A>G (p.Tyr1193Cys) c.3479A>G (p.Tyr1160Cys) c.2660A>G (p.Tyr887Cys) n.4211A>G | gnomAD v4 |
13 | g.51937305T>G | CA388020881 | ATP7B | c.*1642A>C (n.*1642A>C) c.*2736A>C (n.*2736A>C) c.3371A>C (p.Tyr1124Ser) c.3992A>C (p.Tyr1331Ser) c.3659A>C (p.Tyr1220Ser) c.3740A>C (p.Tyr1247Ser) n.1315A>C c.3758A>C (p.Tyr1253Ser) n.4131A>C n.858A>C c.2927A>C (p.Tyr976Ser) c.2702A>C (p.Tyr901Ser) c.3797A>C (p.Tyr1266Ser) c.1770A>C c.*1093A>C (n.*1093A>C) n.4736A>C n.3337A>C c.3848A>C (p.Tyr1283Ser) c.3896A>C (p.Tyr1299Ser) c.3956A>C (p.Tyr1319Ser) c.3506A>C (p.Tyr1169Ser) c.1808A>C (p.Tyr603Ser) c.1625A>C (p.Tyr542Ser) c.3857A>C (p.Tyr1286Ser) c.3809A>C (p.Tyr1270Ser) c.3578A>C (p.Tyr1193Ser) c.3479A>C (p.Tyr1160Ser) c.2660A>C (p.Tyr887Ser) n.4211A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937305T= | CA2091553367 | ATP7B | c.*1642A= (n.*1642A=) c.*2736A= (n.*2736A=) c.3371A= (p.Tyr1124=) c.3992A= (p.Tyr1331=) c.3659A= (p.Tyr1220=) c.3740A= (p.Tyr1247=) n.1315A= c.3758A= (p.Tyr1253=) n.4131A= n.858A= c.2927A= (p.Tyr976=) c.2702A= (p.Tyr901=) c.3797A= (p.Tyr1266=) c.1770A= c.*1093A= (n.*1093A=) n.4736A= n.3337A= c.3848A= (p.Tyr1283=) c.3896A= (p.Tyr1299=) c.3956A= (p.Tyr1319=) c.3506A= (p.Tyr1169=) c.1808A= (p.Tyr603=) c.1625A= (p.Tyr542=) c.3857A= (p.Tyr1286=) c.3809A= (p.Tyr1270=) c.3578A= (p.Tyr1193=) c.3479A= (p.Tyr1160=) c.2660A= (p.Tyr887=) n.4211A= | |
13 | g.51937306A>C | CA388020885 | ATP7B | c.*1641T>G (n.*1641T>G) c.*2735T>G (n.*2735T>G) c.3370T>G (p.Tyr1124Asp) c.3991T>G (p.Tyr1331Asp) c.3658T>G (p.Tyr1220Asp) c.3739T>G (p.Tyr1247Asp) n.1314T>G c.3757T>G (p.Tyr1253Asp) n.4130T>G n.857T>G c.2926T>G (p.Tyr976Asp) c.2701T>G (p.Tyr901Asp) c.3796T>G (p.Tyr1266Asp) c.1769T>G c.*1092T>G (n.*1092T>G) n.4735T>G n.3336T>G c.3847T>G (p.Tyr1283Asp) c.3895T>G (p.Tyr1299Asp) c.3955T>G (p.Tyr1319Asp) c.3505T>G (p.Tyr1169Asp) c.1807T>G (p.Tyr603Asp) c.1624T>G (p.Tyr542Asp) c.3856T>G (p.Tyr1286Asp) c.3808T>G (p.Tyr1270Asp) c.3577T>G (p.Tyr1193Asp) c.3478T>G (p.Tyr1160Asp) c.2659T>G (p.Tyr887Asp) n.4210T>G | |
13 | g.51937306A>G | CA388020891 | ATP7B | c.*1641T>C (n.*1641T>C) c.*2735T>C (n.*2735T>C) c.3370T>C (p.Tyr1124His) c.3991T>C (p.Tyr1331His) c.3658T>C (p.Tyr1220His) c.3739T>C (p.Tyr1247His) n.1314T>C c.3757T>C (p.Tyr1253His) n.4130T>C n.857T>C c.2926T>C (p.Tyr976His) c.2701T>C (p.Tyr901His) c.3796T>C (p.Tyr1266His) c.1769T>C c.*1092T>C (n.*1092T>C) n.4735T>C n.3336T>C c.3847T>C (p.Tyr1283His) c.3895T>C (p.Tyr1299His) c.3955T>C (p.Tyr1319His) c.3505T>C (p.Tyr1169His) c.1807T>C (p.Tyr603His) c.1624T>C (p.Tyr542His) c.3856T>C (p.Tyr1286His) c.3808T>C (p.Tyr1270His) c.3577T>C (p.Tyr1193His) c.3478T>C (p.Tyr1160His) c.2659T>C (p.Tyr887His) n.4210T>C | |
13 | g.51937306A>T | CA388020894 | ATP7B | c.*1641T>A (n.*1641T>A) c.*2735T>A (n.*2735T>A) c.3370T>A (p.Tyr1124Asn) c.3991T>A (p.Tyr1331Asn) c.3658T>A (p.Tyr1220Asn) c.3739T>A (p.Tyr1247Asn) n.1314T>A c.3757T>A (p.Tyr1253Asn) n.4130T>A n.857T>A c.2926T>A (p.Tyr976Asn) c.2701T>A (p.Tyr901Asn) c.3796T>A (p.Tyr1266Asn) c.1769T>A c.*1092T>A (n.*1092T>A) n.4735T>A n.3336T>A c.3847T>A (p.Tyr1283Asn) c.3895T>A (p.Tyr1299Asn) c.3955T>A (p.Tyr1319Asn) c.3505T>A (p.Tyr1169Asn) c.1807T>A (p.Tyr603Asn) c.1624T>A (p.Tyr542Asn) c.3856T>A (p.Tyr1286Asn) c.3808T>A (p.Tyr1270Asn) c.3577T>A (p.Tyr1193Asn) c.3478T>A (p.Tyr1160Asn) c.2659T>A (p.Tyr887Asn) n.4210T>A | |
13 | g.51937307A= | CA2091553372 | ATP7B | c.*1640T= (n.*1640T=) c.*2734T= (n.*2734T=) c.3369T= (p.Ile1123=) c.3990T= (p.Ile1330=) c.3657T= (p.Ile1219=) c.3738T= (p.Ile1246=) n.1313T= c.3756T= (p.Ile1252=) n.4129T= n.856T= c.2925T= (p.Ile975=) c.2700T= (p.Ile900=) c.3795T= (p.Ile1265=) c.1768T= c.*1091T= (n.*1091T=) n.4734T= n.3335T= c.3846T= (p.Ile1282=) c.3894T= (p.Ile1298=) c.3954T= (p.Ile1318=) c.3504T= (p.Ile1168=) c.1806T= (p.Ile602=) c.1623T= (p.Ile541=) c.3855T= (p.Ile1285=) c.3807T= (p.Ile1269=) c.3576T= (p.Ile1192=) c.3477T= (p.Ile1159=) c.2658T= (p.Ile886=) n.4209T= | |
13 | g.51937307A>C | CA388020898 | ATP7B | c.*1640T>G (n.*1640T>G) c.*2734T>G (n.*2734T>G) c.3369T>G (p.Ile1123Met) c.3990T>G (p.Ile1330Met) c.3657T>G (p.Ile1219Met) c.3738T>G (p.Ile1246Met) n.1313T>G c.3756T>G (p.Ile1252Met) n.4129T>G n.856T>G c.2925T>G (p.Ile975Met) c.2700T>G (p.Ile900Met) c.3795T>G (p.Ile1265Met) c.1768T>G c.*1091T>G (n.*1091T>G) n.4734T>G n.3335T>G c.3846T>G (p.Ile1282Met) c.3894T>G (p.Ile1298Met) c.3954T>G (p.Ile1318Met) c.3504T>G (p.Ile1168Met) c.1806T>G (p.Ile602Met) c.1623T>G (p.Ile541Met) c.3855T>G (p.Ile1285Met) c.3807T>G (p.Ile1269Met) c.3576T>G (p.Ile1192Met) c.3477T>G (p.Ile1159Met) c.2658T>G (p.Ile886Met) n.4209T>G | |
13 | g.51937307A>G | CA483893473 | ATP7B | c.*1640T>C (n.*1640T>C) c.*2734T>C (n.*2734T>C) c.3369T>C (p.Ile1123=) c.3990T>C (p.Ile1330=) c.3657T>C (p.Ile1219=) c.3738T>C (p.Ile1246=) n.1313T>C c.3756T>C (p.Ile1252=) n.4129T>C n.856T>C c.2925T>C (p.Ile975=) c.2700T>C (p.Ile900=) c.3795T>C (p.Ile1265=) c.1768T>C c.*1091T>C (n.*1091T>C) n.4734T>C n.3335T>C c.3846T>C (p.Ile1282=) c.3894T>C (p.Ile1298=) c.3954T>C (p.Ile1318=) c.3504T>C (p.Ile1168=) c.1806T>C (p.Ile602=) c.1623T>C (p.Ile541=) c.3855T>C (p.Ile1285=) c.3807T>C (p.Ile1269=) c.3576T>C (p.Ile1192=) c.3477T>C (p.Ile1159=) c.2658T>C (p.Ile886=) n.4209T>C | dbSNP gnomAD v4 |
13 | g.51937307A>T | CA483893472 | ATP7B | c.*1640T>A (n.*1640T>A) c.*2734T>A (n.*2734T>A) c.3369T>A (p.Ile1123=) c.3990T>A (p.Ile1330=) c.3657T>A (p.Ile1219=) c.3738T>A (p.Ile1246=) n.1313T>A c.3756T>A (p.Ile1252=) n.4129T>A n.856T>A c.2925T>A (p.Ile975=) c.2700T>A (p.Ile900=) c.3795T>A (p.Ile1265=) c.1768T>A c.*1091T>A (n.*1091T>A) n.4734T>A n.3335T>A c.3846T>A (p.Ile1282=) c.3894T>A (p.Ile1298=) c.3954T>A (p.Ile1318=) c.3504T>A (p.Ile1168=) c.1806T>A (p.Ile602=) c.1623T>A (p.Ile541=) c.3855T>A (p.Ile1285=) c.3807T>A (p.Ile1269=) c.3576T>A (p.Ile1192=) c.3477T>A (p.Ile1159=) c.2658T>A (p.Ile886=) n.4209T>A | |
13 | g.51937308A>C | CA388020902 | ATP7B | c.*1639T>G (n.*1639T>G) c.*2733T>G (n.*2733T>G) c.3368T>G (p.Ile1123Ser) c.3989T>G (p.Ile1330Ser) c.3656T>G (p.Ile1219Ser) c.3737T>G (p.Ile1246Ser) n.1312T>G c.3755T>G (p.Ile1252Ser) n.4128T>G n.855T>G c.2924T>G (p.Ile975Ser) c.2699T>G (p.Ile900Ser) c.3794T>G (p.Ile1265Ser) c.1767T>G c.*1090T>G (n.*1090T>G) n.4733T>G n.3334T>G c.3845T>G (p.Ile1282Ser) c.3893T>G (p.Ile1298Ser) c.3953T>G (p.Ile1318Ser) c.3503T>G (p.Ile1168Ser) c.1805T>G (p.Ile602Ser) c.1622T>G (p.Ile541Ser) c.3854T>G (p.Ile1285Ser) c.3806T>G (p.Ile1269Ser) c.3575T>G (p.Ile1192Ser) c.3476T>G (p.Ile1159Ser) c.2657T>G (p.Ile886Ser) n.4208T>G | |
13 | g.51937308A>G | CA388020904 | ATP7B | c.*1639T>C (n.*1639T>C) c.*2733T>C (n.*2733T>C) c.3368T>C (p.Ile1123Thr) c.3989T>C (p.Ile1330Thr) c.3656T>C (p.Ile1219Thr) c.3737T>C (p.Ile1246Thr) n.1312T>C c.3755T>C (p.Ile1252Thr) n.4128T>C n.855T>C c.2924T>C (p.Ile975Thr) c.2699T>C (p.Ile900Thr) c.3794T>C (p.Ile1265Thr) c.1767T>C c.*1090T>C (n.*1090T>C) n.4733T>C n.3334T>C c.3845T>C (p.Ile1282Thr) c.3893T>C (p.Ile1298Thr) c.3953T>C (p.Ile1318Thr) c.3503T>C (p.Ile1168Thr) c.1805T>C (p.Ile602Thr) c.1622T>C (p.Ile541Thr) c.3854T>C (p.Ile1285Thr) c.3806T>C (p.Ile1269Thr) c.3575T>C (p.Ile1192Thr) c.3476T>C (p.Ile1159Thr) c.2657T>C (p.Ile886Thr) n.4208T>C | |
13 | g.51937308A>T | CA388020906 | ATP7B | c.*1639T>A (n.*1639T>A) c.*2733T>A (n.*2733T>A) c.3368T>A (p.Ile1123Asn) c.3989T>A (p.Ile1330Asn) c.3656T>A (p.Ile1219Asn) c.3737T>A (p.Ile1246Asn) n.1312T>A c.3755T>A (p.Ile1252Asn) n.4128T>A n.855T>A c.2924T>A (p.Ile975Asn) c.2699T>A (p.Ile900Asn) c.3794T>A (p.Ile1265Asn) c.1767T>A c.*1090T>A (n.*1090T>A) n.4733T>A n.3334T>A c.3845T>A (p.Ile1282Asn) c.3893T>A (p.Ile1298Asn) c.3953T>A (p.Ile1318Asn) c.3503T>A (p.Ile1168Asn) c.1805T>A (p.Ile602Asn) c.1622T>A (p.Ile541Asn) c.3854T>A (p.Ile1285Asn) c.3806T>A (p.Ile1269Asn) c.3575T>A (p.Ile1192Asn) c.3476T>A (p.Ile1159Asn) c.2657T>A (p.Ile886Asn) n.4208T>A | |
13 | g.51937309T>A | CA388020909 | ATP7B | c.*1638A>T (n.*1638A>T) c.*2732A>T (n.*2732A>T) c.3367A>T (p.Ile1123Phe) c.3988A>T (p.Ile1330Phe) c.3655A>T (p.Ile1219Phe) c.3736A>T (p.Ile1246Phe) n.1311A>T c.3754A>T (p.Ile1252Phe) n.4127A>T n.854A>T c.2923A>T (p.Ile975Phe) c.2698A>T (p.Ile900Phe) c.3793A>T (p.Ile1265Phe) c.1766A>T c.*1089A>T (n.*1089A>T) n.4732A>T n.3333A>T c.3844A>T (p.Ile1282Phe) c.3892A>T (p.Ile1298Phe) c.3952A>T (p.Ile1318Phe) c.3502A>T (p.Ile1168Phe) c.1804A>T (p.Ile602Phe) c.1621A>T (p.Ile541Phe) c.3853A>T (p.Ile1285Phe) c.3805A>T (p.Ile1269Phe) c.3574A>T (p.Ile1192Phe) c.3475A>T (p.Ile1159Phe) c.2656A>T (p.Ile886Phe) n.4207A>T | |
13 | g.51937309T>C | CA388020911 | ATP7B | c.*1638A>G (n.*1638A>G) c.*2732A>G (n.*2732A>G) c.3367A>G (p.Ile1123Val) c.3988A>G (p.Ile1330Val) c.3655A>G (p.Ile1219Val) c.3736A>G (p.Ile1246Val) n.1311A>G c.3754A>G (p.Ile1252Val) n.4127A>G n.854A>G c.2923A>G (p.Ile975Val) c.2698A>G (p.Ile900Val) c.3793A>G (p.Ile1265Val) c.1766A>G c.*1089A>G (n.*1089A>G) n.4732A>G n.3333A>G c.3844A>G (p.Ile1282Val) c.3892A>G (p.Ile1298Val) c.3952A>G (p.Ile1318Val) c.3502A>G (p.Ile1168Val) c.1804A>G (p.Ile602Val) c.1621A>G (p.Ile541Val) c.3853A>G (p.Ile1285Val) c.3805A>G (p.Ile1269Val) c.3574A>G (p.Ile1192Val) c.3475A>G (p.Ile1159Val) c.2656A>G (p.Ile886Val) n.4207A>G | |
13 | g.51937309T>G | CA388020913 | ATP7B | c.*1638A>C (n.*1638A>C) c.*2732A>C (n.*2732A>C) c.3367A>C (p.Ile1123Leu) c.3988A>C (p.Ile1330Leu) c.3655A>C (p.Ile1219Leu) c.3736A>C (p.Ile1246Leu) n.1311A>C c.3754A>C (p.Ile1252Leu) n.4127A>C n.854A>C c.2923A>C (p.Ile975Leu) c.2698A>C (p.Ile900Leu) c.3793A>C (p.Ile1265Leu) c.1766A>C c.*1089A>C (n.*1089A>C) n.4732A>C n.3333A>C c.3844A>C (p.Ile1282Leu) c.3892A>C (p.Ile1298Leu) c.3952A>C (p.Ile1318Leu) c.3502A>C (p.Ile1168Leu) c.1804A>C (p.Ile602Leu) c.1621A>C (p.Ile541Leu) c.3853A>C (p.Ile1285Leu) c.3805A>C (p.Ile1269Leu) c.3574A>C (p.Ile1192Leu) c.3475A>C (p.Ile1159Leu) c.2656A>C (p.Ile886Leu) n.4207A>C | COSMIC |
13 | g.51937310C>A | CA483893476 | ATP7B | c.*1637G>T (n.*1637G>T) c.*2731G>T (n.*2731G>T) c.3366G>T (p.Leu1122=) c.3987G>T (p.Leu1329=) c.3654G>T (p.Leu1218=) c.3735G>T (p.Leu1245=) n.1310G>T c.3753G>T (p.Leu1251=) n.4126G>T n.853G>T c.2922G>T (p.Leu974=) c.2697G>T (p.Leu899=) c.3792G>T (p.Leu1264=) c.1765G>T c.*1088G>T (n.*1088G>T) n.4731G>T n.3332G>T c.3843G>T (p.Leu1281=) c.3891G>T (p.Leu1297=) c.3951G>T (p.Leu1317=) c.3501G>T (p.Leu1167=) c.1803G>T (p.Leu601=) c.1620G>T (p.Leu540=) c.3852G>T (p.Leu1284=) c.3804G>T (p.Leu1268=) c.3573G>T (p.Leu1191=) c.3474G>T (p.Leu1158=) c.2655G>T (p.Leu885=) n.4206G>T | |
13 | g.51937310C>G | CA483893475 | ATP7B | c.*1637G>C (n.*1637G>C) c.*2731G>C (n.*2731G>C) c.3366G>C (p.Leu1122=) c.3987G>C (p.Leu1329=) c.3654G>C (p.Leu1218=) c.3735G>C (p.Leu1245=) n.1310G>C c.3753G>C (p.Leu1251=) n.4126G>C n.853G>C c.2922G>C (p.Leu974=) c.2697G>C (p.Leu899=) c.3792G>C (p.Leu1264=) c.1765G>C c.*1088G>C (n.*1088G>C) n.4731G>C n.3332G>C c.3843G>C (p.Leu1281=) c.3891G>C (p.Leu1297=) c.3951G>C (p.Leu1317=) c.3501G>C (p.Leu1167=) c.1803G>C (p.Leu601=) c.1620G>C (p.Leu540=) c.3852G>C (p.Leu1284=) c.3804G>C (p.Leu1268=) c.3573G>C (p.Leu1191=) c.3474G>C (p.Leu1158=) c.2655G>C (p.Leu885=) n.4206G>C | |
13 | g.51937310C>T | CA483893474 | ATP7B | c.*1637G>A (n.*1637G>A) c.*2731G>A (n.*2731G>A) c.3366G>A (p.Leu1122=) c.3987G>A (p.Leu1329=) c.3654G>A (p.Leu1218=) c.3735G>A (p.Leu1245=) n.1310G>A c.3753G>A (p.Leu1251=) n.4126G>A n.853G>A c.2922G>A (p.Leu974=) c.2697G>A (p.Leu899=) c.3792G>A (p.Leu1264=) c.1765G>A c.*1088G>A (n.*1088G>A) n.4731G>A n.3332G>A c.3843G>A (p.Leu1281=) c.3891G>A (p.Leu1297=) c.3951G>A (p.Leu1317=) c.3501G>A (p.Leu1167=) c.1803G>A (p.Leu601=) c.1620G>A (p.Leu540=) c.3852G>A (p.Leu1284=) c.3804G>A (p.Leu1268=) c.3573G>A (p.Leu1191=) c.3474G>A (p.Leu1158=) c.2655G>A (p.Leu885=) n.4206G>A | |
13 | g.51937311A>C | CA388020928 | ATP7B | c.*1636T>G (n.*1636T>G) c.*2730T>G (n.*2730T>G) c.3365T>G (p.Leu1122Arg) c.3986T>G (p.Leu1329Arg) c.3653T>G (p.Leu1218Arg) c.3734T>G (p.Leu1245Arg) n.1309T>G c.3752T>G (p.Leu1251Arg) n.4125T>G n.852T>G c.2921T>G (p.Leu974Arg) c.2696T>G (p.Leu899Arg) c.3791T>G (p.Leu1264Arg) c.1764T>G c.*1087T>G (n.*1087T>G) n.4730T>G n.3331T>G c.3842T>G (p.Leu1281Arg) c.3890T>G (p.Leu1297Arg) c.3950T>G (p.Leu1317Arg) c.3500T>G (p.Leu1167Arg) c.1802T>G (p.Leu601Arg) c.1619T>G (p.Leu540Arg) c.3851T>G (p.Leu1284Arg) c.3803T>G (p.Leu1268Arg) c.3572T>G (p.Leu1191Arg) c.3473T>G (p.Leu1158Arg) c.2654T>G (p.Leu885Arg) n.4205T>G | |
13 | g.51937311A>G | CA388020918 | ATP7B | c.*1636T>C (n.*1636T>C) c.*2730T>C (n.*2730T>C) c.3365T>C (p.Leu1122Pro) c.3986T>C (p.Leu1329Pro) c.3653T>C (p.Leu1218Pro) c.3734T>C (p.Leu1245Pro) n.1309T>C c.3752T>C (p.Leu1251Pro) n.4125T>C n.852T>C c.2921T>C (p.Leu974Pro) c.2696T>C (p.Leu899Pro) c.3791T>C (p.Leu1264Pro) c.1764T>C c.*1087T>C (n.*1087T>C) n.4730T>C n.3331T>C c.3842T>C (p.Leu1281Pro) c.3890T>C (p.Leu1297Pro) c.3950T>C (p.Leu1317Pro) c.3500T>C (p.Leu1167Pro) c.1802T>C (p.Leu601Pro) c.1619T>C (p.Leu540Pro) c.3851T>C (p.Leu1284Pro) c.3803T>C (p.Leu1268Pro) c.3572T>C (p.Leu1191Pro) c.3473T>C (p.Leu1158Pro) c.2654T>C (p.Leu885Pro) n.4205T>C | |
13 | g.51937311A>T | CA388020915 | ATP7B | c.*1636T>A (n.*1636T>A) c.*2730T>A (n.*2730T>A) c.3365T>A (p.Leu1122Gln) c.3986T>A (p.Leu1329Gln) c.3653T>A (p.Leu1218Gln) c.3734T>A (p.Leu1245Gln) n.1309T>A c.3752T>A (p.Leu1251Gln) n.4125T>A n.852T>A c.2921T>A (p.Leu974Gln) c.2696T>A (p.Leu899Gln) c.3791T>A (p.Leu1264Gln) c.1764T>A c.*1087T>A (n.*1087T>A) n.4730T>A n.3331T>A c.3842T>A (p.Leu1281Gln) c.3890T>A (p.Leu1297Gln) c.3950T>A (p.Leu1317Gln) c.3500T>A (p.Leu1167Gln) c.1802T>A (p.Leu601Gln) c.1619T>A (p.Leu540Gln) c.3851T>A (p.Leu1284Gln) c.3803T>A (p.Leu1268Gln) c.3572T>A (p.Leu1191Gln) c.3473T>A (p.Leu1158Gln) c.2654T>A (p.Leu885Gln) n.4205T>A | |
13 | g.51937312G>A | CA483893477 | ATP7B | c.*1635C>T (n.*1635C>T) c.*2729C>T (n.*2729C>T) c.3364C>T (p.Leu1122=) c.3985C>T (p.Leu1329=) c.3652C>T (p.Leu1218=) c.3733C>T (p.Leu1245=) n.1308C>T c.3751C>T (p.Leu1251=) n.4124C>T n.851C>T c.2920C>T (p.Leu974=) c.2695C>T (p.Leu899=) c.3790C>T (p.Leu1264=) c.1763C>T c.*1086C>T (n.*1086C>T) n.4729C>T n.3330C>T c.3841C>T (p.Leu1281=) c.3889C>T (p.Leu1297=) c.3949C>T (p.Leu1317=) c.3499C>T (p.Leu1167=) c.1801C>T (p.Leu601=) c.1618C>T (p.Leu540=) c.3850C>T (p.Leu1284=) c.3802C>T (p.Leu1268=) c.3571C>T (p.Leu1191=) c.3472C>T (p.Leu1158=) c.2653C>T (p.Leu885=) n.4204C>T | |
13 | g.51937312G>C | CA388020936 | ATP7B | c.*1635C>G (n.*1635C>G) c.*2729C>G (n.*2729C>G) c.3364C>G (p.Leu1122Val) c.3985C>G (p.Leu1329Val) c.3652C>G (p.Leu1218Val) c.3733C>G (p.Leu1245Val) n.1308C>G c.3751C>G (p.Leu1251Val) n.4124C>G n.851C>G c.2920C>G (p.Leu974Val) c.2695C>G (p.Leu899Val) c.3790C>G (p.Leu1264Val) c.1763C>G c.*1086C>G (n.*1086C>G) n.4729C>G n.3330C>G c.3841C>G (p.Leu1281Val) c.3889C>G (p.Leu1297Val) c.3949C>G (p.Leu1317Val) c.3499C>G (p.Leu1167Val) c.1801C>G (p.Leu601Val) c.1618C>G (p.Leu540Val) c.3850C>G (p.Leu1284Val) c.3802C>G (p.Leu1268Val) c.3571C>G (p.Leu1191Val) c.3472C>G (p.Leu1158Val) c.2653C>G (p.Leu885Val) n.4204C>G | |
13 | g.51937312G>T | CA388020931 | ATP7B | c.*1635C>A (n.*1635C>A) c.*2729C>A (n.*2729C>A) c.3364C>A (p.Leu1122Met) c.3985C>A (p.Leu1329Met) c.3652C>A (p.Leu1218Met) c.3733C>A (p.Leu1245Met) n.1308C>A c.3751C>A (p.Leu1251Met) n.4124C>A n.851C>A c.2920C>A (p.Leu974Met) c.2695C>A (p.Leu899Met) c.3790C>A (p.Leu1264Met) c.1763C>A c.*1086C>A (n.*1086C>A) n.4729C>A n.3330C>A c.3841C>A (p.Leu1281Met) c.3889C>A (p.Leu1297Met) c.3949C>A (p.Leu1317Met) c.3499C>A (p.Leu1167Met) c.1801C>A (p.Leu601Met) c.1618C>A (p.Leu540Met) c.3850C>A (p.Leu1284Met) c.3802C>A (p.Leu1268Met) c.3571C>A (p.Leu1191Met) c.3472C>A (p.Leu1158Met) c.2653C>A (p.Leu885Met) n.4204C>A | |
13 | g.51937313T>A | CA483893478 | ATP7B | c.*1634A>T (n.*1634A>T) c.*2728A>T (n.*2728A>T) c.3363A>T (p.Ala1121=) c.3984A>T (p.Ala1328=) c.3651A>T (p.Ala1217=) c.3732A>T (p.Ala1244=) n.1307A>T c.3750A>T (p.Ala1250=) n.4123A>T n.850A>T c.2919A>T (p.Ala973=) c.2694A>T (p.Ala898=) c.3789A>T (p.Ala1263=) c.1762A>T c.*1085A>T (n.*1085A>T) n.4728A>T n.3329A>T c.3840A>T (p.Ala1280=) c.3888A>T (p.Ala1296=) c.3948A>T (p.Ala1316=) c.3498A>T (p.Ala1166=) c.1800A>T (p.Ala600=) c.1617A>T (p.Ala539=) c.3849A>T (p.Ala1283=) c.3801A>T (p.Ala1267=) c.3570A>T (p.Ala1190=) c.3471A>T (p.Ala1157=) c.2652A>T (p.Ala884=) n.4203A>T | |
13 | g.51937313T>C | CA483893480 | ATP7B | c.*1634A>G (n.*1634A>G) c.*2728A>G (n.*2728A>G) c.3363A>G (p.Ala1121=) c.3984A>G (p.Ala1328=) c.3651A>G (p.Ala1217=) c.3732A>G (p.Ala1244=) n.1307A>G c.3750A>G (p.Ala1250=) n.4123A>G n.850A>G c.2919A>G (p.Ala973=) c.2694A>G (p.Ala898=) c.3789A>G (p.Ala1263=) c.1762A>G c.*1085A>G (n.*1085A>G) n.4728A>G n.3329A>G c.3840A>G (p.Ala1280=) c.3888A>G (p.Ala1296=) c.3948A>G (p.Ala1316=) c.3498A>G (p.Ala1166=) c.1800A>G (p.Ala600=) c.1617A>G (p.Ala539=) c.3849A>G (p.Ala1283=) c.3801A>G (p.Ala1267=) c.3570A>G (p.Ala1190=) c.3471A>G (p.Ala1157=) c.2652A>G (p.Ala884=) n.4203A>G | ClinVar dbSNP gnomAD v4 |
13 | g.51937313T>G | CA483893479 | ATP7B | c.*1634A>C (n.*1634A>C) c.*2728A>C (n.*2728A>C) c.3363A>C (p.Ala1121=) c.3984A>C (p.Ala1328=) c.3651A>C (p.Ala1217=) c.3732A>C (p.Ala1244=) n.1307A>C c.3750A>C (p.Ala1250=) n.4123A>C n.850A>C c.2919A>C (p.Ala973=) c.2694A>C (p.Ala898=) c.3789A>C (p.Ala1263=) c.1762A>C c.*1085A>C (n.*1085A>C) n.4728A>C n.3329A>C c.3840A>C (p.Ala1280=) c.3888A>C (p.Ala1296=) c.3948A>C (p.Ala1316=) c.3498A>C (p.Ala1166=) c.1800A>C (p.Ala600=) c.1617A>C (p.Ala539=) c.3849A>C (p.Ala1283=) c.3801A>C (p.Ala1267=) c.3570A>C (p.Ala1190=) c.3471A>C (p.Ala1157=) c.2652A>C (p.Ala884=) n.4203A>C | |
13 | g.51937314G>A | CA388020939 | ATP7B | c.*1633C>T (n.*1633C>T) c.*2727C>T (n.*2727C>T) c.3362C>T (p.Ala1121Val) c.3983C>T (p.Ala1328Val) c.3650C>T (p.Ala1217Val) c.3731C>T (p.Ala1244Val) n.1306C>T c.3749C>T (p.Ala1250Val) n.4122C>T n.849C>T c.2918C>T (p.Ala973Val) c.2693C>T (p.Ala898Val) c.3788C>T (p.Ala1263Val) c.1761C>T c.*1084C>T (n.*1084C>T) n.4727C>T n.3328C>T c.3839C>T (p.Ala1280Val) c.3887C>T (p.Ala1296Val) c.3947C>T (p.Ala1316Val) c.3497C>T (p.Ala1166Val) c.1799C>T (p.Ala600Val) c.1616C>T (p.Ala539Val) c.3848C>T (p.Ala1283Val) c.3800C>T (p.Ala1267Val) c.3569C>T (p.Ala1190Val) c.3470C>T (p.Ala1157Val) c.2651C>T (p.Ala884Val) n.4202C>T | dbSNP gnomAD v4 |
13 | g.51937314G>C | CA388020940 | ATP7B | c.*1633C>G (n.*1633C>G) c.*2727C>G (n.*2727C>G) c.3362C>G (p.Ala1121Gly) c.3983C>G (p.Ala1328Gly) c.3650C>G (p.Ala1217Gly) c.3731C>G (p.Ala1244Gly) n.1306C>G c.3749C>G (p.Ala1250Gly) n.4122C>G n.849C>G c.2918C>G (p.Ala973Gly) c.2693C>G (p.Ala898Gly) c.3788C>G (p.Ala1263Gly) c.1761C>G c.*1084C>G (n.*1084C>G) n.4727C>G n.3328C>G c.3839C>G (p.Ala1280Gly) c.3887C>G (p.Ala1296Gly) c.3947C>G (p.Ala1316Gly) c.3497C>G (p.Ala1166Gly) c.1799C>G (p.Ala600Gly) c.1616C>G (p.Ala539Gly) c.3848C>G (p.Ala1283Gly) c.3800C>G (p.Ala1267Gly) c.3569C>G (p.Ala1190Gly) c.3470C>G (p.Ala1157Gly) c.2651C>G (p.Ala884Gly) n.4202C>G | |
13 | g.51937314G= | CA2091553375 | ATP7B | c.*1633C= (n.*1633C=) c.*2727C= (n.*2727C=) c.3362C= (p.Ala1121=) c.3983C= (p.Ala1328=) c.3650C= (p.Ala1217=) c.3731C= (p.Ala1244=) n.1306C= c.3749C= (p.Ala1250=) n.4122C= n.849C= c.2918C= (p.Ala973=) c.2693C= (p.Ala898=) c.3788C= (p.Ala1263=) c.1761C= c.*1084C= (n.*1084C=) n.4727C= n.3328C= c.3839C= (p.Ala1280=) c.3887C= (p.Ala1296=) c.3947C= (p.Ala1316=) c.3497C= (p.Ala1166=) c.1799C= (p.Ala600=) c.1616C= (p.Ala539=) c.3848C= (p.Ala1283=) c.3800C= (p.Ala1267=) c.3569C= (p.Ala1190=) c.3470C= (p.Ala1157=) c.2651C= (p.Ala884=) n.4202C= | |
13 | g.51937314G>T | CA388020943 | ATP7B | c.*1633C>A (n.*1633C>A) c.*2727C>A (n.*2727C>A) c.3362C>A (p.Ala1121Glu) c.3983C>A (p.Ala1328Glu) c.3650C>A (p.Ala1217Glu) c.3731C>A (p.Ala1244Glu) n.1306C>A c.3749C>A (p.Ala1250Glu) n.4122C>A n.849C>A c.2918C>A (p.Ala973Glu) c.2693C>A (p.Ala898Glu) c.3788C>A (p.Ala1263Glu) c.1761C>A c.*1084C>A (n.*1084C>A) n.4727C>A n.3328C>A c.3839C>A (p.Ala1280Glu) c.3887C>A (p.Ala1296Glu) c.3947C>A (p.Ala1316Glu) c.3497C>A (p.Ala1166Glu) c.1799C>A (p.Ala600Glu) c.1616C>A (p.Ala539Glu) c.3848C>A (p.Ala1283Glu) c.3800C>A (p.Ala1267Glu) c.3569C>A (p.Ala1190Glu) c.3470C>A (p.Ala1157Glu) c.2651C>A (p.Ala884Glu) n.4202C>A | |
13 | g.51937315C>A | CA388020948 | ATP7B | c.*1632G>T (n.*1632G>T) c.*2726G>T (n.*2726G>T) c.3361G>T (p.Ala1121Ser) c.3982G>T (p.Ala1328Ser) c.3649G>T (p.Ala1217Ser) c.3730G>T (p.Ala1244Ser) n.1305G>T c.3748G>T (p.Ala1250Ser) n.4121G>T n.848G>T c.2917G>T (p.Ala973Ser) c.2692G>T (p.Ala898Ser) c.3787G>T (p.Ala1263Ser) c.1760G>T c.*1083G>T (n.*1083G>T) n.4726G>T n.3327G>T c.3838G>T (p.Ala1280Ser) c.3886G>T (p.Ala1296Ser) c.3946G>T (p.Ala1316Ser) c.3496G>T (p.Ala1166Ser) c.1798G>T (p.Ala600Ser) c.1615G>T (p.Ala539Ser) c.3847G>T (p.Ala1283Ser) c.3799G>T (p.Ala1267Ser) c.3568G>T (p.Ala1190Ser) c.3469G>T (p.Ala1157Ser) c.2650G>T (p.Ala884Ser) n.4201G>T | |
13 | g.51937315C= | CA2091553380 | ATP7B | c.*1632G= (n.*1632G=) c.*2726G= (n.*2726G=) c.3361G= (p.Ala1121=) c.3982G= (p.Ala1328=) c.3649G= (p.Ala1217=) c.3730G= (p.Ala1244=) n.1305G= c.3748G= (p.Ala1250=) n.4121G= n.848G= c.2917G= (p.Ala973=) c.2692G= (p.Ala898=) c.3787G= (p.Ala1263=) c.1760G= c.*1083G= (n.*1083G=) n.4726G= n.3327G= c.3838G= (p.Ala1280=) c.3886G= (p.Ala1296=) c.3946G= (p.Ala1316=) c.3496G= (p.Ala1166=) c.1798G= (p.Ala600=) c.1615G= (p.Ala539=) c.3847G= (p.Ala1283=) c.3799G= (p.Ala1267=) c.3568G= (p.Ala1190=) c.3469G= (p.Ala1157=) c.2650G= (p.Ala884=) n.4201G= | |
13 | g.51937315C>G | CA388020949 | ATP7B | c.*1632G>C (n.*1632G>C) c.*2726G>C (n.*2726G>C) c.3361G>C (p.Ala1121Pro) c.3982G>C (p.Ala1328Pro) c.3649G>C (p.Ala1217Pro) c.3730G>C (p.Ala1244Pro) n.1305G>C c.3748G>C (p.Ala1250Pro) n.4121G>C n.848G>C c.2917G>C (p.Ala973Pro) c.2692G>C (p.Ala898Pro) c.3787G>C (p.Ala1263Pro) c.1760G>C c.*1083G>C (n.*1083G>C) n.4726G>C n.3327G>C c.3838G>C (p.Ala1280Pro) c.3886G>C (p.Ala1296Pro) c.3946G>C (p.Ala1316Pro) c.3496G>C (p.Ala1166Pro) c.1798G>C (p.Ala600Pro) c.1615G>C (p.Ala539Pro) c.3847G>C (p.Ala1283Pro) c.3799G>C (p.Ala1267Pro) c.3568G>C (p.Ala1190Pro) c.3469G>C (p.Ala1157Pro) c.2650G>C (p.Ala884Pro) n.4201G>C | |
13 | g.51937315C>T | CA388020952 | ATP7B | c.*1632G>A (n.*1632G>A) c.*2726G>A (n.*2726G>A) c.3361G>A (p.Ala1121Thr) c.3982G>A (p.Ala1328Thr) c.3649G>A (p.Ala1217Thr) c.3730G>A (p.Ala1244Thr) n.1305G>A c.3748G>A (p.Ala1250Thr) n.4121G>A n.848G>A c.2917G>A (p.Ala973Thr) c.2692G>A (p.Ala898Thr) c.3787G>A (p.Ala1263Thr) c.1760G>A c.*1083G>A (n.*1083G>A) n.4726G>A n.3327G>A c.3838G>A (p.Ala1280Thr) c.3886G>A (p.Ala1296Thr) c.3946G>A (p.Ala1316Thr) c.3496G>A (p.Ala1166Thr) c.1798G>A (p.Ala600Thr) c.1615G>A (p.Ala539Thr) c.3847G>A (p.Ala1283Thr) c.3799G>A (p.Ala1267Thr) c.3568G>A (p.Ala1190Thr) c.3469G>A (p.Ala1157Thr) c.2650G>A (p.Ala884Thr) n.4201G>A | ClinVar dbSNP gnomAD v4 |
13 | g.51937316C>A | CA483893481 | ATP7B | c.*1631G>T (n.*1631G>T) c.*2725G>T (n.*2725G>T) c.3360G>T (p.Leu1120=) c.3981G>T (p.Leu1327=) c.3648G>T (p.Leu1216=) c.3729G>T (p.Leu1243=) n.1304G>T c.3747G>T (p.Leu1249=) n.4120G>T n.847G>T c.2916G>T (p.Leu972=) c.2691G>T (p.Leu897=) c.3786G>T (p.Leu1262=) c.1759G>T c.*1082G>T (n.*1082G>T) n.4725G>T n.3326G>T c.3837G>T (p.Leu1279=) c.3885G>T (p.Leu1295=) c.3945G>T (p.Leu1315=) c.3495G>T (p.Leu1165=) c.1797G>T (p.Leu599=) c.1614G>T (p.Leu538=) c.3846G>T (p.Leu1282=) c.3798G>T (p.Leu1266=) c.3567G>T (p.Leu1189=) c.3468G>T (p.Leu1156=) c.2649G>T (p.Leu883=) n.4200G>T | |
13 | g.51937316C>G | CA483893482 | ATP7B | c.*1631G>C (n.*1631G>C) c.*2725G>C (n.*2725G>C) c.3360G>C (p.Leu1120=) c.3981G>C (p.Leu1327=) c.3648G>C (p.Leu1216=) c.3729G>C (p.Leu1243=) n.1304G>C c.3747G>C (p.Leu1249=) n.4120G>C n.847G>C c.2916G>C (p.Leu972=) c.2691G>C (p.Leu897=) c.3786G>C (p.Leu1262=) c.1759G>C c.*1082G>C (n.*1082G>C) n.4725G>C n.3326G>C c.3837G>C (p.Leu1279=) c.3885G>C (p.Leu1295=) c.3945G>C (p.Leu1315=) c.3495G>C (p.Leu1165=) c.1797G>C (p.Leu599=) c.1614G>C (p.Leu538=) c.3846G>C (p.Leu1282=) c.3798G>C (p.Leu1266=) c.3567G>C (p.Leu1189=) c.3468G>C (p.Leu1156=) c.2649G>C (p.Leu883=) n.4200G>C | |
13 | g.51937316C>T | CA483893483 | ATP7B | c.*1631G>A (n.*1631G>A) c.*2725G>A (n.*2725G>A) c.3360G>A (p.Leu1120=) c.3981G>A (p.Leu1327=) c.3648G>A (p.Leu1216=) c.3729G>A (p.Leu1243=) n.1304G>A c.3747G>A (p.Leu1249=) n.4120G>A n.847G>A c.2916G>A (p.Leu972=) c.2691G>A (p.Leu897=) c.3786G>A (p.Leu1262=) c.1759G>A c.*1082G>A (n.*1082G>A) n.4725G>A n.3326G>A c.3837G>A (p.Leu1279=) c.3885G>A (p.Leu1295=) c.3945G>A (p.Leu1315=) c.3495G>A (p.Leu1165=) c.1797G>A (p.Leu599=) c.1614G>A (p.Leu538=) c.3846G>A (p.Leu1282=) c.3798G>A (p.Leu1266=) c.3567G>A (p.Leu1189=) c.3468G>A (p.Leu1156=) c.2649G>A (p.Leu883=) n.4200G>A | |
13 | g.51937317A>C | CA388020955 | ATP7B | c.*1630T>G (n.*1630T>G) c.*2724T>G (n.*2724T>G) c.3359T>G (p.Leu1120Arg) c.3980T>G (p.Leu1327Arg) c.3647T>G (p.Leu1216Arg) c.3728T>G (p.Leu1243Arg) n.1303T>G c.3746T>G (p.Leu1249Arg) n.4119T>G n.846T>G c.2915T>G (p.Leu972Arg) c.2690T>G (p.Leu897Arg) c.3785T>G (p.Leu1262Arg) c.1758T>G c.*1081T>G (n.*1081T>G) n.4724T>G n.3325T>G c.3836T>G (p.Leu1279Arg) c.3884T>G (p.Leu1295Arg) c.3944T>G (p.Leu1315Arg) c.3494T>G (p.Leu1165Arg) c.1796T>G (p.Leu599Arg) c.1613T>G (p.Leu538Arg) c.3845T>G (p.Leu1282Arg) c.3797T>G (p.Leu1266Arg) c.3566T>G (p.Leu1189Arg) c.3467T>G (p.Leu1156Arg) c.2648T>G (p.Leu883Arg) n.4199T>G | |
13 | g.51937317A>G | CA388020957 | ATP7B | c.*1630T>C (n.*1630T>C) c.*2724T>C (n.*2724T>C) c.3359T>C (p.Leu1120Pro) c.3980T>C (p.Leu1327Pro) c.3647T>C (p.Leu1216Pro) c.3728T>C (p.Leu1243Pro) n.1303T>C c.3746T>C (p.Leu1249Pro) n.4119T>C n.846T>C c.2915T>C (p.Leu972Pro) c.2690T>C (p.Leu897Pro) c.3785T>C (p.Leu1262Pro) c.1758T>C c.*1081T>C (n.*1081T>C) n.4724T>C n.3325T>C c.3836T>C (p.Leu1279Pro) c.3884T>C (p.Leu1295Pro) c.3944T>C (p.Leu1315Pro) c.3494T>C (p.Leu1165Pro) c.1796T>C (p.Leu599Pro) c.1613T>C (p.Leu538Pro) c.3845T>C (p.Leu1282Pro) c.3797T>C (p.Leu1266Pro) c.3566T>C (p.Leu1189Pro) c.3467T>C (p.Leu1156Pro) c.2648T>C (p.Leu883Pro) n.4199T>C | ClinVar dbSNP |
13 | g.51937317A>T | CA388020959 | ATP7B | c.*1630T>A (n.*1630T>A) c.*2724T>A (n.*2724T>A) c.3359T>A (p.Leu1120Gln) c.3980T>A (p.Leu1327Gln) c.3647T>A (p.Leu1216Gln) c.3728T>A (p.Leu1243Gln) n.1303T>A c.3746T>A (p.Leu1249Gln) n.4119T>A n.846T>A c.2915T>A (p.Leu972Gln) c.2690T>A (p.Leu897Gln) c.3785T>A (p.Leu1262Gln) c.1758T>A c.*1081T>A (n.*1081T>A) n.4724T>A n.3325T>A c.3836T>A (p.Leu1279Gln) c.3884T>A (p.Leu1295Gln) c.3944T>A (p.Leu1315Gln) c.3494T>A (p.Leu1165Gln) c.1796T>A (p.Leu599Gln) c.1613T>A (p.Leu538Gln) c.3845T>A (p.Leu1282Gln) c.3797T>A (p.Leu1266Gln) c.3566T>A (p.Leu1189Gln) c.3467T>A (p.Leu1156Gln) c.2648T>A (p.Leu883Gln) n.4199T>A | |
13 | g.51937318G>A | CA483893484 | ATP7B | c.*1629C>T (n.*1629C>T) c.*2723C>T (n.*2723C>T) c.3358C>T (p.Leu1120=) c.3979C>T (p.Leu1327=) c.3646C>T (p.Leu1216=) c.3727C>T (p.Leu1243=) n.1302C>T c.3745C>T (p.Leu1249=) n.4118C>T n.845C>T c.2914C>T (p.Leu972=) c.2689C>T (p.Leu897=) c.3784C>T (p.Leu1262=) c.1757C>T c.*1080C>T (n.*1080C>T) n.4723C>T n.3324C>T c.3835C>T (p.Leu1279=) c.3883C>T (p.Leu1295=) c.3943C>T (p.Leu1315=) c.3493C>T (p.Leu1165=) c.1795C>T (p.Leu599=) c.1612C>T (p.Leu538=) c.3844C>T (p.Leu1282=) c.3796C>T (p.Leu1266=) c.3565C>T (p.Leu1189=) c.3466C>T (p.Leu1156=) c.2647C>T (p.Leu883=) n.4198C>T | ClinVar |
13 | g.51937318G>C | CA388020964 | ATP7B | c.*1629C>G (n.*1629C>G) c.*2723C>G (n.*2723C>G) c.3358C>G (p.Leu1120Val) c.3979C>G (p.Leu1327Val) c.3646C>G (p.Leu1216Val) c.3727C>G (p.Leu1243Val) n.1302C>G c.3745C>G (p.Leu1249Val) n.4118C>G n.845C>G c.2914C>G (p.Leu972Val) c.2689C>G (p.Leu897Val) c.3784C>G (p.Leu1262Val) c.1757C>G c.*1080C>G (n.*1080C>G) n.4723C>G n.3324C>G c.3835C>G (p.Leu1279Val) c.3883C>G (p.Leu1295Val) c.3943C>G (p.Leu1315Val) c.3493C>G (p.Leu1165Val) c.1795C>G (p.Leu599Val) c.1612C>G (p.Leu538Val) c.3844C>G (p.Leu1282Val) c.3796C>G (p.Leu1266Val) c.3565C>G (p.Leu1189Val) c.3466C>G (p.Leu1156Val) c.2647C>G (p.Leu883Val) n.4198C>G | gnomAD v4 |
13 | g.51937318G>T | CA388020966 | ATP7B | c.*1629C>A (n.*1629C>A) c.*2723C>A (n.*2723C>A) c.3358C>A (p.Leu1120Met) c.3979C>A (p.Leu1327Met) c.3646C>A (p.Leu1216Met) c.3727C>A (p.Leu1243Met) n.1302C>A c.3745C>A (p.Leu1249Met) n.4118C>A n.845C>A c.2914C>A (p.Leu972Met) c.2689C>A (p.Leu897Met) c.3784C>A (p.Leu1262Met) c.1757C>A c.*1080C>A (n.*1080C>A) n.4723C>A n.3324C>A c.3835C>A (p.Leu1279Met) c.3883C>A (p.Leu1295Met) c.3943C>A (p.Leu1315Met) c.3493C>A (p.Leu1165Met) c.1795C>A (p.Leu599Met) c.1612C>A (p.Leu538Met) c.3844C>A (p.Leu1282Met) c.3796C>A (p.Leu1266Met) c.3565C>A (p.Leu1189Met) c.3466C>A (p.Leu1156Met) c.2647C>A (p.Leu883Met) n.4198C>A | |
13 | g.51937319G>A | CA483893485 | ATP7B | c.*1628C>T (n.*1628C>T) c.*2722C>T (n.*2722C>T) c.3357C>T (p.Val1119=) c.3978C>T (p.Val1326=) c.3645C>T (p.Val1215=) c.3726C>T (p.Val1242=) n.1301C>T c.3744C>T (p.Val1248=) n.4117C>T n.844C>T c.2913C>T (p.Val971=) c.2688C>T (p.Val896=) c.3783C>T (p.Val1261=) c.1756C>T c.*1079C>T (n.*1079C>T) n.4722C>T n.3323C>T c.3834C>T (p.Val1278=) c.3882C>T (p.Val1294=) c.3942C>T (p.Val1314=) c.3492C>T (p.Val1164=) c.1794C>T (p.Val598=) c.1611C>T (p.Val537=) c.3843C>T (p.Val1281=) c.3795C>T (p.Val1265=) c.3564C>T (p.Val1188=) c.3465C>T (p.Val1155=) c.2646C>T (p.Val882=) n.4197C>T | ClinVar dbSNP |
13 | g.51937319G>C | CA483893486 | ATP7B | c.*1628C>G (n.*1628C>G) c.*2722C>G (n.*2722C>G) c.3357C>G (p.Val1119=) c.3978C>G (p.Val1326=) c.3645C>G (p.Val1215=) c.3726C>G (p.Val1242=) n.1301C>G c.3744C>G (p.Val1248=) n.4117C>G n.844C>G c.2913C>G (p.Val971=) c.2688C>G (p.Val896=) c.3783C>G (p.Val1261=) c.1756C>G c.*1079C>G (n.*1079C>G) n.4722C>G n.3323C>G c.3834C>G (p.Val1278=) c.3882C>G (p.Val1294=) c.3942C>G (p.Val1314=) c.3492C>G (p.Val1164=) c.1794C>G (p.Val598=) c.1611C>G (p.Val537=) c.3843C>G (p.Val1281=) c.3795C>G (p.Val1265=) c.3564C>G (p.Val1188=) c.3465C>G (p.Val1155=) c.2646C>G (p.Val882=) n.4197C>G | |
13 | g.51937319G>T | CA483893487 | ATP7B | c.*1628C>A (n.*1628C>A) c.*2722C>A (n.*2722C>A) c.3357C>A (p.Val1119=) c.3978C>A (p.Val1326=) c.3645C>A (p.Val1215=) c.3726C>A (p.Val1242=) n.1301C>A c.3744C>A (p.Val1248=) n.4117C>A n.844C>A c.2913C>A (p.Val971=) c.2688C>A (p.Val896=) c.3783C>A (p.Val1261=) c.1756C>A c.*1079C>A (n.*1079C>A) n.4722C>A n.3323C>A c.3834C>A (p.Val1278=) c.3882C>A (p.Val1294=) c.3942C>A (p.Val1314=) c.3492C>A (p.Val1164=) c.1794C>A (p.Val598=) c.1611C>A (p.Val537=) c.3843C>A (p.Val1281=) c.3795C>A (p.Val1265=) c.3564C>A (p.Val1188=) c.3465C>A (p.Val1155=) c.2646C>A (p.Val882=) n.4197C>A | |
13 | g.51937320A= | CA2091553383 | ATP7B | c.*1627T= (n.*1627T=) c.*2721T= (n.*2721T=) c.3356T= (p.Val1119=) c.3977T= (p.Val1326=) c.3644T= (p.Val1215=) c.3725T= (p.Val1242=) n.1300T= c.3743T= (p.Val1248=) n.4116T= n.843T= c.2912T= (p.Val971=) c.2687T= (p.Val896=) c.3782T= (p.Val1261=) c.1755T= c.*1078T= (n.*1078T=) n.4721T= n.3322T= c.3833T= (p.Val1278=) c.3881T= (p.Val1294=) c.3941T= (p.Val1314=) c.3491T= (p.Val1164=) c.1793T= (p.Val598=) c.1610T= (p.Val537=) c.3842T= (p.Val1281=) c.3794T= (p.Val1265=) c.3563T= (p.Val1188=) c.3464T= (p.Val1155=) c.2645T= (p.Val882=) n.4196T= | |
13 | g.51937320A>C | CA388020973 | ATP7B | c.*1627T>G (n.*1627T>G) c.*2721T>G (n.*2721T>G) c.3356T>G (p.Val1119Gly) c.3977T>G (p.Val1326Gly) c.3644T>G (p.Val1215Gly) c.3725T>G (p.Val1242Gly) n.1300T>G c.3743T>G (p.Val1248Gly) n.4116T>G n.843T>G c.2912T>G (p.Val971Gly) c.2687T>G (p.Val896Gly) c.3782T>G (p.Val1261Gly) c.1755T>G c.*1078T>G (n.*1078T>G) n.4721T>G n.3322T>G c.3833T>G (p.Val1278Gly) c.3881T>G (p.Val1294Gly) c.3941T>G (p.Val1314Gly) c.3491T>G (p.Val1164Gly) c.1793T>G (p.Val598Gly) c.1610T>G (p.Val537Gly) c.3842T>G (p.Val1281Gly) c.3794T>G (p.Val1265Gly) c.3563T>G (p.Val1188Gly) c.3464T>G (p.Val1155Gly) c.2645T>G (p.Val882Gly) n.4196T>G | ClinVar dbSNP |
13 | g.51937320A>G | CA388020976 | ATP7B | c.*1627T>C (n.*1627T>C) c.*2721T>C (n.*2721T>C) c.3356T>C (p.Val1119Ala) c.3977T>C (p.Val1326Ala) c.3644T>C (p.Val1215Ala) c.3725T>C (p.Val1242Ala) n.1300T>C c.3743T>C (p.Val1248Ala) n.4116T>C n.843T>C c.2912T>C (p.Val971Ala) c.2687T>C (p.Val896Ala) c.3782T>C (p.Val1261Ala) c.1755T>C c.*1078T>C (n.*1078T>C) n.4721T>C n.3322T>C c.3833T>C (p.Val1278Ala) c.3881T>C (p.Val1294Ala) c.3941T>C (p.Val1314Ala) c.3491T>C (p.Val1164Ala) c.1793T>C (p.Val598Ala) c.1610T>C (p.Val537Ala) c.3842T>C (p.Val1281Ala) c.3794T>C (p.Val1265Ala) c.3563T>C (p.Val1188Ala) c.3464T>C (p.Val1155Ala) c.2645T>C (p.Val882Ala) n.4196T>C | |
13 | g.51937320A>T | CA388020969 | ATP7B | c.*1627T>A (n.*1627T>A) c.*2721T>A (n.*2721T>A) c.3356T>A (p.Val1119Asp) c.3977T>A (p.Val1326Asp) c.3644T>A (p.Val1215Asp) c.3725T>A (p.Val1242Asp) n.1300T>A c.3743T>A (p.Val1248Asp) n.4116T>A n.843T>A c.2912T>A (p.Val971Asp) c.2687T>A (p.Val896Asp) c.3782T>A (p.Val1261Asp) c.1755T>A c.*1078T>A (n.*1078T>A) n.4721T>A n.3322T>A c.3833T>A (p.Val1278Asp) c.3881T>A (p.Val1294Asp) c.3941T>A (p.Val1314Asp) c.3491T>A (p.Val1164Asp) c.1793T>A (p.Val598Asp) c.1610T>A (p.Val537Asp) c.3842T>A (p.Val1281Asp) c.3794T>A (p.Val1265Asp) c.3563T>A (p.Val1188Asp) c.3464T>A (p.Val1155Asp) c.2645T>A (p.Val882Asp) n.4196T>A | |
13 | g.51937321C>A | CA388020980 | ATP7B | c.*1626G>T (n.*1626G>T) c.*2720G>T (n.*2720G>T) c.3355G>T (p.Val1119Phe) c.3976G>T (p.Val1326Phe) c.3643G>T (p.Val1215Phe) c.3724G>T (p.Val1242Phe) n.1299G>T c.3742G>T (p.Val1248Phe) n.4115G>T n.842G>T c.2911G>T (p.Val971Phe) c.2686G>T (p.Val896Phe) c.3781G>T (p.Val1261Phe) c.1754G>T c.*1077G>T (n.*1077G>T) n.4720G>T n.3321G>T c.3832G>T (p.Val1278Phe) c.3880G>T (p.Val1294Phe) c.3940G>T (p.Val1314Phe) c.3490G>T (p.Val1164Phe) c.1792G>T (p.Val598Phe) c.1609G>T (p.Val537Phe) c.3841G>T (p.Val1281Phe) c.3793G>T (p.Val1265Phe) c.3562G>T (p.Val1188Phe) c.3463G>T (p.Val1155Phe) c.2644G>T (p.Val882Phe) n.4195G>T | |
13 | g.51937321C>G | CA388020981 | ATP7B | c.*1626G>C (n.*1626G>C) c.*2720G>C (n.*2720G>C) c.3355G>C (p.Val1119Leu) c.3976G>C (p.Val1326Leu) c.3643G>C (p.Val1215Leu) c.3724G>C (p.Val1242Leu) n.1299G>C c.3742G>C (p.Val1248Leu) n.4115G>C n.842G>C c.2911G>C (p.Val971Leu) c.2686G>C (p.Val896Leu) c.3781G>C (p.Val1261Leu) c.1754G>C c.*1077G>C (n.*1077G>C) n.4720G>C n.3321G>C c.3832G>C (p.Val1278Leu) c.3880G>C (p.Val1294Leu) c.3940G>C (p.Val1314Leu) c.3490G>C (p.Val1164Leu) c.1792G>C (p.Val598Leu) c.1609G>C (p.Val537Leu) c.3841G>C (p.Val1281Leu) c.3793G>C (p.Val1265Leu) c.3562G>C (p.Val1188Leu) c.3463G>C (p.Val1155Leu) c.2644G>C (p.Val882Leu) n.4195G>C | |
13 | g.51937321C>T | CA388020983 | ATP7B | c.*1626G>A (n.*1626G>A) c.*2720G>A (n.*2720G>A) c.3355G>A (p.Val1119Ile) c.3976G>A (p.Val1326Ile) c.3643G>A (p.Val1215Ile) c.3724G>A (p.Val1242Ile) n.1299G>A c.3742G>A (p.Val1248Ile) n.4115G>A n.842G>A c.2911G>A (p.Val971Ile) c.2686G>A (p.Val896Ile) c.3781G>A (p.Val1261Ile) c.1754G>A c.*1077G>A (n.*1077G>A) n.4720G>A n.3321G>A c.3832G>A (p.Val1278Ile) c.3880G>A (p.Val1294Ile) c.3940G>A (p.Val1314Ile) c.3490G>A (p.Val1164Ile) c.1792G>A (p.Val598Ile) c.1609G>A (p.Val537Ile) c.3841G>A (p.Val1281Ile) c.3793G>A (p.Val1265Ile) c.3562G>A (p.Val1188Ile) c.3463G>A (p.Val1155Ile) c.2644G>A (p.Val882Ile) n.4195G>A | |
13 | g.51937322C>A | CA483893488 | ATP7B | c.*1625G>T (n.*1625G>T) c.*2719G>T (n.*2719G>T) c.3354G>T (p.Leu1118=) c.3975G>T (p.Leu1325=) c.3642G>T (p.Leu1214=) c.3723G>T (p.Leu1241=) n.1298G>T c.3741G>T (p.Leu1247=) n.4114G>T n.841G>T c.2910G>T (p.Leu970=) c.2685G>T (p.Leu895=) c.3780G>T (p.Leu1260=) c.1753G>T c.*1076G>T (n.*1076G>T) n.4719G>T n.3320G>T c.3831G>T (p.Leu1277=) c.3879G>T (p.Leu1293=) c.3939G>T (p.Leu1313=) c.3489G>T (p.Leu1163=) c.1791G>T (p.Leu597=) c.1608G>T (p.Leu536=) c.3840G>T (p.Leu1280=) c.3792G>T (p.Leu1264=) c.3561G>T (p.Leu1187=) c.3462G>T (p.Leu1154=) c.2643G>T (p.Leu881=) n.4194G>T | |
13 | g.51937322C>G | CA483893490 | ATP7B | c.*1625G>C (n.*1625G>C) c.*2719G>C (n.*2719G>C) c.3354G>C (p.Leu1118=) c.3975G>C (p.Leu1325=) c.3642G>C (p.Leu1214=) c.3723G>C (p.Leu1241=) n.1298G>C c.3741G>C (p.Leu1247=) n.4114G>C n.841G>C c.2910G>C (p.Leu970=) c.2685G>C (p.Leu895=) c.3780G>C (p.Leu1260=) c.1753G>C c.*1076G>C (n.*1076G>C) n.4719G>C n.3320G>C c.3831G>C (p.Leu1277=) c.3879G>C (p.Leu1293=) c.3939G>C (p.Leu1313=) c.3489G>C (p.Leu1163=) c.1791G>C (p.Leu597=) c.1608G>C (p.Leu536=) c.3840G>C (p.Leu1280=) c.3792G>C (p.Leu1264=) c.3561G>C (p.Leu1187=) c.3462G>C (p.Leu1154=) c.2643G>C (p.Leu881=) n.4194G>C | |
13 | g.51937322C>T | CA483893491 | ATP7B | c.*1625G>A (n.*1625G>A) c.*2719G>A (n.*2719G>A) c.3354G>A (p.Leu1118=) c.3975G>A (p.Leu1325=) c.3642G>A (p.Leu1214=) c.3723G>A (p.Leu1241=) n.1298G>A c.3741G>A (p.Leu1247=) n.4114G>A n.841G>A c.2910G>A (p.Leu970=) c.2685G>A (p.Leu895=) c.3780G>A (p.Leu1260=) c.1753G>A c.*1076G>A (n.*1076G>A) n.4719G>A n.3320G>A c.3831G>A (p.Leu1277=) c.3879G>A (p.Leu1293=) c.3939G>A (p.Leu1313=) c.3489G>A (p.Leu1163=) c.1791G>A (p.Leu597=) c.1608G>A (p.Leu536=) c.3840G>A (p.Leu1280=) c.3792G>A (p.Leu1264=) c.3561G>A (p.Leu1187=) c.3462G>A (p.Leu1154=) c.2643G>A (p.Leu881=) n.4194G>A | ClinVar dbSNP |
13 | g.51937322_51937323delinsCA | CA2091553385 | ATP7B | c.*1624_*1625delinsTG (n.*1624_*1625delinsTG) c.*2718_*2719delinsTG (n.*2718_*2719delinsTG) c.3353_3354delinsTG (p.Leu1118=) c.3974_3975delinsTG (p.Leu1325=) c.3641_3642delinsTG (p.Leu1214=) c.3722_3723delinsTG (p.Leu1241=) n.1297_1298delinsTG c.3740_3741delinsTG (p.Leu1247=) n.4113_4114delinsTG n.840_841delinsTG c.2909_2910delinsTG (p.Leu970=) c.2684_2685delinsTG (p.Leu895=) c.3779_3780delinsTG (p.Leu1260=) c.1752_1753delinsTG c.*1075_*1076delinsTG (n.*1075_*1076delinsTG) n.4718_4719delinsTG n.3319_3320delinsTG c.3830_3831delinsTG (p.Leu1277=) c.3878_3879delinsTG (p.Leu1293=) c.3938_3939delinsTG (p.Leu1313=) c.3488_3489delinsTG (p.Leu1163=) c.1790_1791delinsTG (p.Leu597=) c.1607_1608delinsTG (p.Leu536=) c.3839_3840delinsTG (p.Leu1280=) c.3791_3792delinsTG (p.Leu1264=) c.3560_3561delinsTG (p.Leu1187=) c.3461_3462delinsTG (p.Leu1154=) c.2642_2643delinsTG (p.Leu881=) n.4193_4194delinsTG | |
13 | g.51937323del | CA916083352 | ATP7B | c.*1624del (n.*1624del) c.*2718del (n.*2718del) c.3353del (p.Leu1118ArgfsTer5) c.3974del (p.Leu1325ArgfsTer5) c.3641del (p.Leu1214ArgfsTer5) c.3722del (p.Leu1241ArgfsTer5) n.1297del c.3740del (p.Leu1247ArgfsTer5) n.4113del n.840del c.2909del (p.Leu970ArgfsTer5) c.2684del (p.Leu895ArgfsTer5) c.3779del (p.Leu1260ArgfsTer5) c.1752del c.*1075del (n.*1075del) n.4718del n.3319del c.3830del (p.Leu1277ArgfsTer5) c.3878del (p.Leu1293ArgfsTer5) c.3938del (p.Leu1313ArgfsTer5) c.3488del (p.Leu1163ArgfsTer5) c.1790del (p.Leu597ArgfsTer5) c.1607del (p.Leu536ArgfsTer5) c.3839del (p.Leu1280ArgfsTer5) c.3791del (p.Leu1264ArgfsTer5) c.3560del (p.Leu1187ArgfsTer5) c.3461del (p.Leu1154ArgfsTer5) c.2642del (p.Leu881ArgfsTer5) n.4193del | ClinVar dbSNP gnomAD v4 |
13 | g.51937323A>C | CA388020986 | ATP7B | c.*1624T>G (n.*1624T>G) c.*2718T>G (n.*2718T>G) c.3353T>G (p.Leu1118Arg) c.3974T>G (p.Leu1325Arg) c.3641T>G (p.Leu1214Arg) c.3722T>G (p.Leu1241Arg) n.1297T>G c.3740T>G (p.Leu1247Arg) n.4113T>G n.840T>G c.2909T>G (p.Leu970Arg) c.2684T>G (p.Leu895Arg) c.3779T>G (p.Leu1260Arg) c.1752T>G c.*1075T>G (n.*1075T>G) n.4718T>G n.3319T>G c.3830T>G (p.Leu1277Arg) c.3878T>G (p.Leu1293Arg) c.3938T>G (p.Leu1313Arg) c.3488T>G (p.Leu1163Arg) c.1790T>G (p.Leu597Arg) c.1607T>G (p.Leu536Arg) c.3839T>G (p.Leu1280Arg) c.3791T>G (p.Leu1264Arg) c.3560T>G (p.Leu1187Arg) c.3461T>G (p.Leu1154Arg) c.2642T>G (p.Leu881Arg) n.4193T>G | |
13 | g.51937323A>G | CA388020987 | ATP7B | c.*1624T>C (n.*1624T>C) c.*2718T>C (n.*2718T>C) c.3353T>C (p.Leu1118Pro) c.3974T>C (p.Leu1325Pro) c.3641T>C (p.Leu1214Pro) c.3722T>C (p.Leu1241Pro) n.1297T>C c.3740T>C (p.Leu1247Pro) n.4113T>C n.840T>C c.2909T>C (p.Leu970Pro) c.2684T>C (p.Leu895Pro) c.3779T>C (p.Leu1260Pro) c.1752T>C c.*1075T>C (n.*1075T>C) n.4718T>C n.3319T>C c.3830T>C (p.Leu1277Pro) c.3878T>C (p.Leu1293Pro) c.3938T>C (p.Leu1313Pro) c.3488T>C (p.Leu1163Pro) c.1790T>C (p.Leu597Pro) c.1607T>C (p.Leu536Pro) c.3839T>C (p.Leu1280Pro) c.3791T>C (p.Leu1264Pro) c.3560T>C (p.Leu1187Pro) c.3461T>C (p.Leu1154Pro) c.2642T>C (p.Leu881Pro) n.4193T>C | |
13 | g.51937323A>T | CA388020988 | ATP7B | c.*1624T>A (n.*1624T>A) c.*2718T>A (n.*2718T>A) c.3353T>A (p.Leu1118Gln) c.3974T>A (p.Leu1325Gln) c.3641T>A (p.Leu1214Gln) c.3722T>A (p.Leu1241Gln) n.1297T>A c.3740T>A (p.Leu1247Gln) n.4113T>A n.840T>A c.2909T>A (p.Leu970Gln) c.2684T>A (p.Leu895Gln) c.3779T>A (p.Leu1260Gln) c.1752T>A c.*1075T>A (n.*1075T>A) n.4718T>A n.3319T>A c.3830T>A (p.Leu1277Gln) c.3878T>A (p.Leu1293Gln) c.3938T>A (p.Leu1313Gln) c.3488T>A (p.Leu1163Gln) c.1790T>A (p.Leu597Gln) c.1607T>A (p.Leu536Gln) c.3839T>A (p.Leu1280Gln) c.3791T>A (p.Leu1264Gln) c.3560T>A (p.Leu1187Gln) c.3461T>A (p.Leu1154Gln) c.2642T>A (p.Leu881Gln) n.4193T>A | |
13 | g.51937324G>A | CA250073343 | ATP7B | c.*1623C>T (n.*1623C>T) c.*2717C>T (n.*2717C>T) c.3352C>T (p.Leu1118=) c.3973C>T (p.Leu1325=) c.3640C>T (p.Leu1214=) c.3721C>T (p.Leu1241=) n.1296C>T c.3739C>T (p.Leu1247=) n.4112C>T n.839C>T c.2908C>T (p.Leu970=) c.2683C>T (p.Leu895=) c.3778C>T (p.Leu1260=) c.1751C>T c.*1074C>T (n.*1074C>T) n.4717C>T n.3318C>T c.3829C>T (p.Leu1277=) c.3877C>T (p.Leu1293=) c.3937C>T (p.Leu1313=) c.3487C>T (p.Leu1163=) c.1789C>T (p.Leu597=) c.1606C>T (p.Leu536=) c.3838C>T (p.Leu1280=) c.3790C>T (p.Leu1264=) c.3559C>T (p.Leu1187=) c.3460C>T (p.Leu1154=) c.2641C>T (p.Leu881=) n.4192C>T | dbSNP |
13 | g.51937324G>C | CA388020990 | ATP7B | c.*1623C>G (n.*1623C>G) c.*2717C>G (n.*2717C>G) c.3352C>G (p.Leu1118Val) c.3973C>G (p.Leu1325Val) c.3640C>G (p.Leu1214Val) c.3721C>G (p.Leu1241Val) n.1296C>G c.3739C>G (p.Leu1247Val) n.4112C>G n.839C>G c.2908C>G (p.Leu970Val) c.2683C>G (p.Leu895Val) c.3778C>G (p.Leu1260Val) c.1751C>G c.*1074C>G (n.*1074C>G) n.4717C>G n.3318C>G c.3829C>G (p.Leu1277Val) c.3877C>G (p.Leu1293Val) c.3937C>G (p.Leu1313Val) c.3487C>G (p.Leu1163Val) c.1789C>G (p.Leu597Val) c.1606C>G (p.Leu536Val) c.3838C>G (p.Leu1280Val) c.3790C>G (p.Leu1264Val) c.3559C>G (p.Leu1187Val) c.3460C>G (p.Leu1154Val) c.2641C>G (p.Leu881Val) n.4192C>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937324G= | CA2091553398 | ATP7B | c.*1623C= (n.*1623C=) c.*2717C= (n.*2717C=) c.3352C= (p.Leu1118=) c.3973C= (p.Leu1325=) c.3640C= (p.Leu1214=) c.3721C= (p.Leu1241=) n.1296C= c.3739C= (p.Leu1247=) n.4112C= n.839C= c.2908C= (p.Leu970=) c.2683C= (p.Leu895=) c.3778C= (p.Leu1260=) c.1751C= c.*1074C= (n.*1074C=) n.4717C= n.3318C= c.3829C= (p.Leu1277=) c.3877C= (p.Leu1293=) c.3937C= (p.Leu1313=) c.3487C= (p.Leu1163=) c.1789C= (p.Leu597=) c.1606C= (p.Leu536=) c.3838C= (p.Leu1280=) c.3790C= (p.Leu1264=) c.3559C= (p.Leu1187=) c.3460C= (p.Leu1154=) c.2641C= (p.Leu881=) n.4192C= | |
13 | g.51937324G>T | CA388020989 | ATP7B | c.*1623C>A (n.*1623C>A) c.*2717C>A (n.*2717C>A) c.3352C>A (p.Leu1118Met) c.3973C>A (p.Leu1325Met) c.3640C>A (p.Leu1214Met) c.3721C>A (p.Leu1241Met) n.1296C>A c.3739C>A (p.Leu1247Met) n.4112C>A n.839C>A c.2908C>A (p.Leu970Met) c.2683C>A (p.Leu895Met) c.3778C>A (p.Leu1260Met) c.1751C>A c.*1074C>A (n.*1074C>A) n.4717C>A n.3318C>A c.3829C>A (p.Leu1277Met) c.3877C>A (p.Leu1293Met) c.3937C>A (p.Leu1313Met) c.3487C>A (p.Leu1163Met) c.1789C>A (p.Leu597Met) c.1606C>A (p.Leu536Met) c.3838C>A (p.Leu1280Met) c.3790C>A (p.Leu1264Met) c.3559C>A (p.Leu1187Met) c.3460C>A (p.Leu1154Met) c.2641C>A (p.Leu881Met) n.4192C>A | |
13 | g.51937325dup | CA2695218733 | ATP7B | c.*1623dup (n.*1623dup) c.*2717dup (n.*2717dup) c.3352dup (p.Leu1118ProfsTer8) c.3973dup (p.Leu1325ProfsTer8) c.3640dup (p.Leu1214ProfsTer8) c.3721dup (p.Leu1241ProfsTer8) n.1296dup c.3739dup (p.Leu1247ProfsTer8) n.4112dup n.839dup c.2908dup (p.Leu970ProfsTer8) c.2683dup (p.Leu895ProfsTer8) c.3778dup (p.Leu1260ProfsTer8) c.1751dup c.*1074dup (n.*1074dup) n.4717dup n.3318dup c.3829dup (p.Leu1277ProfsTer8) c.3877dup (p.Leu1293ProfsTer8) c.3937dup (p.Leu1313ProfsTer8) c.3487dup (p.Leu1163ProfsTer8) c.1789dup (p.Leu597ProfsTer8) c.1606dup (p.Leu536ProfsTer8) c.3838dup (p.Leu1280ProfsTer8) c.3790dup (p.Leu1264ProfsTer8) c.3559dup (p.Leu1187ProfsTer8) c.3460dup (p.Leu1154ProfsTer8) c.2641dup (p.Leu881ProfsTer8) n.4192dup | |
13 | g.51937325del | CA2695218732 | ATP7B | c.*1623del (n.*1623del) c.*2717del (n.*2717del) c.3352del (p.Leu1118TrpfsTer5) c.3973del (p.Leu1325TrpfsTer5) c.3640del (p.Leu1214TrpfsTer5) c.3721del (p.Leu1241TrpfsTer5) n.1296del c.3739del (p.Leu1247TrpfsTer5) n.4112del n.839del c.2908del (p.Leu970TrpfsTer5) c.2683del (p.Leu895TrpfsTer5) c.3778del (p.Leu1260TrpfsTer5) c.1751del c.*1074del (n.*1074del) n.4717del n.3318del c.3829del (p.Leu1277TrpfsTer5) c.3877del (p.Leu1293TrpfsTer5) c.3937del (p.Leu1313TrpfsTer5) c.3487del (p.Leu1163TrpfsTer5) c.1789del (p.Leu597TrpfsTer5) c.1606del (p.Leu536TrpfsTer5) c.3838del (p.Leu1280TrpfsTer5) c.3790del (p.Leu1264TrpfsTer5) c.3559del (p.Leu1187TrpfsTer5) c.3460del (p.Leu1154TrpfsTer5) c.2641del (p.Leu881TrpfsTer5) n.4192del | |
13 | g.51937325G>A | CA483893492 | ATP7B | c.*1622C>T (n.*1622C>T) c.*2716C>T (n.*2716C>T) c.3351C>T (p.Asn1117=) c.3972C>T (p.Asn1324=) c.3639C>T (p.Asn1213=) c.3720C>T (p.Asn1240=) n.1295C>T c.3738C>T (p.Asn1246=) n.4111C>T n.838C>T c.2907C>T (p.Asn969=) c.2682C>T (p.Asn894=) c.3777C>T (p.Asn1259=) c.1750C>T c.*1073C>T (n.*1073C>T) n.4716C>T n.3317C>T c.3828C>T (p.Asn1276=) c.3876C>T (p.Asn1292=) c.3936C>T (p.Asn1312=) c.3486C>T (p.Asn1162=) c.1788C>T (p.Asn596=) c.1605C>T (p.Asn535=) c.3837C>T (p.Asn1279=) c.3789C>T (p.Asn1263=) c.3558C>T (p.Asn1186=) c.3459C>T (p.Asn1153=) c.2640C>T (p.Asn880=) n.4191C>T | |
13 | g.51937325G>C | CA388020993 | ATP7B | c.*1622C>G (n.*1622C>G) c.*2716C>G (n.*2716C>G) c.3351C>G (p.Asn1117Lys) c.3972C>G (p.Asn1324Lys) c.3639C>G (p.Asn1213Lys) c.3720C>G (p.Asn1240Lys) n.1295C>G c.3738C>G (p.Asn1246Lys) n.4111C>G n.838C>G c.2907C>G (p.Asn969Lys) c.2682C>G (p.Asn894Lys) c.3777C>G (p.Asn1259Lys) c.1750C>G c.*1073C>G (n.*1073C>G) n.4716C>G n.3317C>G c.3828C>G (p.Asn1276Lys) c.3876C>G (p.Asn1292Lys) c.3936C>G (p.Asn1312Lys) c.3486C>G (p.Asn1162Lys) c.1788C>G (p.Asn596Lys) c.1605C>G (p.Asn535Lys) c.3837C>G (p.Asn1279Lys) c.3789C>G (p.Asn1263Lys) c.3558C>G (p.Asn1186Lys) c.3459C>G (p.Asn1153Lys) c.2640C>G (p.Asn880Lys) n.4191C>G | |
13 | g.51937325G>T | CA388020995 | ATP7B | c.*1622C>A (n.*1622C>A) c.*2716C>A (n.*2716C>A) c.3351C>A (p.Asn1117Lys) c.3972C>A (p.Asn1324Lys) c.3639C>A (p.Asn1213Lys) c.3720C>A (p.Asn1240Lys) n.1295C>A c.3738C>A (p.Asn1246Lys) n.4111C>A n.838C>A c.2907C>A (p.Asn969Lys) c.2682C>A (p.Asn894Lys) c.3777C>A (p.Asn1259Lys) c.1750C>A c.*1073C>A (n.*1073C>A) n.4716C>A n.3317C>A c.3828C>A (p.Asn1276Lys) c.3876C>A (p.Asn1292Lys) c.3936C>A (p.Asn1312Lys) c.3486C>A (p.Asn1162Lys) c.1788C>A (p.Asn596Lys) c.1605C>A (p.Asn535Lys) c.3837C>A (p.Asn1279Lys) c.3789C>A (p.Asn1263Lys) c.3558C>A (p.Asn1186Lys) c.3459C>A (p.Asn1153Lys) c.2640C>A (p.Asn880Lys) n.4191C>A | |
13 | g.51937326T>A | CA388020998 | ATP7B | c.*1621A>T (n.*1621A>T) c.*2715A>T (n.*2715A>T) c.3350A>T (p.Asn1117Ile) c.3971A>T (p.Asn1324Ile) c.3638A>T (p.Asn1213Ile) c.3719A>T (p.Asn1240Ile) n.1294A>T c.3737A>T (p.Asn1246Ile) n.4110A>T n.837A>T c.2906A>T (p.Asn969Ile) c.2681A>T (p.Asn894Ile) c.3776A>T (p.Asn1259Ile) c.1749A>T c.*1072A>T (n.*1072A>T) n.4715A>T n.3316A>T c.3827A>T (p.Asn1276Ile) c.3875A>T (p.Asn1292Ile) c.3935A>T (p.Asn1312Ile) c.3485A>T (p.Asn1162Ile) c.1787A>T (p.Asn596Ile) c.1604A>T (p.Asn535Ile) c.3836A>T (p.Asn1279Ile) c.3788A>T (p.Asn1263Ile) c.3557A>T (p.Asn1186Ile) c.3458A>T (p.Asn1153Ile) c.2639A>T (p.Asn880Ile) n.4190A>T | dbSNP |
13 | g.51937326T>C | CA6988522 | ATP7B | c.*1621A>G (n.*1621A>G) c.*2715A>G (n.*2715A>G) c.3350A>G (p.Asn1117Ser) c.3971A>G (p.Asn1324Ser) c.3638A>G (p.Asn1213Ser) c.3719A>G (p.Asn1240Ser) n.1294A>G c.3737A>G (p.Asn1246Ser) n.4110A>G n.837A>G c.2906A>G (p.Asn969Ser) c.2681A>G (p.Asn894Ser) c.3776A>G (p.Asn1259Ser) c.1749A>G c.*1072A>G (n.*1072A>G) n.4715A>G n.3316A>G c.3827A>G (p.Asn1276Ser) c.3875A>G (p.Asn1292Ser) c.3935A>G (p.Asn1312Ser) c.3485A>G (p.Asn1162Ser) c.1787A>G (p.Asn596Ser) c.1604A>G (p.Asn535Ser) c.3836A>G (p.Asn1279Ser) c.3788A>G (p.Asn1263Ser) c.3557A>G (p.Asn1186Ser) c.3458A>G (p.Asn1153Ser) c.2639A>G (p.Asn880Ser) n.4190A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937326T>G | CA388021001 | ATP7B | c.*1621A>C (n.*1621A>C) c.*2715A>C (n.*2715A>C) c.3350A>C (p.Asn1117Thr) c.3971A>C (p.Asn1324Thr) c.3638A>C (p.Asn1213Thr) c.3719A>C (p.Asn1240Thr) n.1294A>C c.3737A>C (p.Asn1246Thr) n.4110A>C n.837A>C c.2906A>C (p.Asn969Thr) c.2681A>C (p.Asn894Thr) c.3776A>C (p.Asn1259Thr) c.1749A>C c.*1072A>C (n.*1072A>C) n.4715A>C n.3316A>C c.3827A>C (p.Asn1276Thr) c.3875A>C (p.Asn1292Thr) c.3935A>C (p.Asn1312Thr) c.3485A>C (p.Asn1162Thr) c.1787A>C (p.Asn596Thr) c.1604A>C (p.Asn535Thr) c.3836A>C (p.Asn1279Thr) c.3788A>C (p.Asn1263Thr) c.3557A>C (p.Asn1186Thr) c.3458A>C (p.Asn1153Thr) c.2639A>C (p.Asn880Thr) n.4190A>C | ClinVar dbSNP |
13 | g.51937326T= | CA2091553406 | ATP7B | c.*1621A= (n.*1621A=) c.*2715A= (n.*2715A=) c.3350A= (p.Asn1117=) c.3971A= (p.Asn1324=) c.3638A= (p.Asn1213=) c.3719A= (p.Asn1240=) n.1294A= c.3737A= (p.Asn1246=) n.4110A= n.837A= c.2906A= (p.Asn969=) c.2681A= (p.Asn894=) c.3776A= (p.Asn1259=) c.1749A= c.*1072A= (n.*1072A=) n.4715A= n.3316A= c.3827A= (p.Asn1276=) c.3875A= (p.Asn1292=) c.3935A= (p.Asn1312=) c.3485A= (p.Asn1162=) c.1787A= (p.Asn596=) c.1604A= (p.Asn535=) c.3836A= (p.Asn1279=) c.3788A= (p.Asn1263=) c.3557A= (p.Asn1186=) c.3458A= (p.Asn1153=) c.2639A= (p.Asn880=) n.4190A= | |
13 | g.51937327T>A | CA388021006 | ATP7B | c.*1620A>T (n.*1620A>T) c.*2714A>T (n.*2714A>T) c.3349A>T (p.Asn1117Tyr) c.3970A>T (p.Asn1324Tyr) c.3637A>T (p.Asn1213Tyr) c.3718A>T (p.Asn1240Tyr) n.1293A>T c.3736A>T (p.Asn1246Tyr) n.4109A>T n.836A>T c.2905A>T (p.Asn969Tyr) c.2680A>T (p.Asn894Tyr) c.3775A>T (p.Asn1259Tyr) c.1748A>T c.*1071A>T (n.*1071A>T) n.4714A>T n.3315A>T c.3826A>T (p.Asn1276Tyr) c.3874A>T (p.Asn1292Tyr) c.3934A>T (p.Asn1312Tyr) c.3484A>T (p.Asn1162Tyr) c.1786A>T (p.Asn596Tyr) c.1603A>T (p.Asn535Tyr) c.3835A>T (p.Asn1279Tyr) c.3787A>T (p.Asn1263Tyr) c.3556A>T (p.Asn1186Tyr) c.3457A>T (p.Asn1153Tyr) c.2638A>T (p.Asn880Tyr) n.4189A>T | |
13 | g.51937327T>C | CA388021008 | ATP7B | c.*1620A>G (n.*1620A>G) c.*2714A>G (n.*2714A>G) c.3349A>G (p.Asn1117Asp) c.3970A>G (p.Asn1324Asp) c.3637A>G (p.Asn1213Asp) c.3718A>G (p.Asn1240Asp) n.1293A>G c.3736A>G (p.Asn1246Asp) n.4109A>G n.836A>G c.2905A>G (p.Asn969Asp) c.2680A>G (p.Asn894Asp) c.3775A>G (p.Asn1259Asp) c.1748A>G c.*1071A>G (n.*1071A>G) n.4714A>G n.3315A>G c.3826A>G (p.Asn1276Asp) c.3874A>G (p.Asn1292Asp) c.3934A>G (p.Asn1312Asp) c.3484A>G (p.Asn1162Asp) c.1786A>G (p.Asn596Asp) c.1603A>G (p.Asn535Asp) c.3835A>G (p.Asn1279Asp) c.3787A>G (p.Asn1263Asp) c.3556A>G (p.Asn1186Asp) c.3457A>G (p.Asn1153Asp) c.2638A>G (p.Asn880Asp) n.4189A>G | |
13 | g.51937327T>G | CA388021004 | ATP7B | c.*1620A>C (n.*1620A>C) c.*2714A>C (n.*2714A>C) c.3349A>C (p.Asn1117His) c.3970A>C (p.Asn1324His) c.3637A>C (p.Asn1213His) c.3718A>C (p.Asn1240His) n.1293A>C c.3736A>C (p.Asn1246His) n.4109A>C n.836A>C c.2905A>C (p.Asn969His) c.2680A>C (p.Asn894His) c.3775A>C (p.Asn1259His) c.1748A>C c.*1071A>C (n.*1071A>C) n.4714A>C n.3315A>C c.3826A>C (p.Asn1276His) c.3874A>C (p.Asn1292His) c.3934A>C (p.Asn1312His) c.3484A>C (p.Asn1162His) c.1786A>C (p.Asn596His) c.1603A>C (p.Asn535His) c.3835A>C (p.Asn1279His) c.3787A>C (p.Asn1263His) c.3556A>C (p.Asn1186His) c.3457A>C (p.Asn1153His) c.2638A>C (p.Asn880His) n.4189A>C | gnomAD v4 |
13 | g.51937328G>A | CA483893494 | ATP7B | c.*1619C>T (n.*1619C>T) c.*2713C>T (n.*2713C>T) c.3348C>T (p.Ile1116=) c.3969C>T (p.Ile1323=) c.3636C>T (p.Ile1212=) c.3717C>T (p.Ile1239=) n.1292C>T c.3735C>T (p.Ile1245=) n.4108C>T n.835C>T c.2904C>T (p.Ile968=) c.2679C>T (p.Ile893=) c.3774C>T (p.Ile1258=) c.1747C>T c.*1070C>T (n.*1070C>T) n.4713C>T n.3314C>T c.3825C>T (p.Ile1275=) c.3873C>T (p.Ile1291=) c.3933C>T (p.Ile1311=) c.3483C>T (p.Ile1161=) c.1785C>T (p.Ile595=) c.1602C>T (p.Ile534=) c.3834C>T (p.Ile1278=) c.3786C>T (p.Ile1262=) c.3555C>T (p.Ile1185=) c.3456C>T (p.Ile1152=) c.2637C>T (p.Ile879=) n.4188C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937328G>C | CA388021012 | ATP7B | c.*1619C>G (n.*1619C>G) c.*2713C>G (n.*2713C>G) c.3348C>G (p.Ile1116Met) c.3969C>G (p.Ile1323Met) c.3636C>G (p.Ile1212Met) c.3717C>G (p.Ile1239Met) n.1292C>G c.3735C>G (p.Ile1245Met) n.4108C>G n.835C>G c.2904C>G (p.Ile968Met) c.2679C>G (p.Ile893Met) c.3774C>G (p.Ile1258Met) c.1747C>G c.*1070C>G (n.*1070C>G) n.4713C>G n.3314C>G c.3825C>G (p.Ile1275Met) c.3873C>G (p.Ile1291Met) c.3933C>G (p.Ile1311Met) c.3483C>G (p.Ile1161Met) c.1785C>G (p.Ile595Met) c.1602C>G (p.Ile534Met) c.3834C>G (p.Ile1278Met) c.3786C>G (p.Ile1262Met) c.3555C>G (p.Ile1185Met) c.3456C>G (p.Ile1152Met) c.2637C>G (p.Ile879Met) n.4188C>G | |
13 | g.51937328G= | CA2091553413 | ATP7B | c.*1619C= (n.*1619C=) c.*2713C= (n.*2713C=) c.3348C= (p.Ile1116=) c.3969C= (p.Ile1323=) c.3636C= (p.Ile1212=) c.3717C= (p.Ile1239=) n.1292C= c.3735C= (p.Ile1245=) n.4108C= n.835C= c.2904C= (p.Ile968=) c.2679C= (p.Ile893=) c.3774C= (p.Ile1258=) c.1747C= c.*1070C= (n.*1070C=) n.4713C= n.3314C= c.3825C= (p.Ile1275=) c.3873C= (p.Ile1291=) c.3933C= (p.Ile1311=) c.3483C= (p.Ile1161=) c.1785C= (p.Ile595=) c.1602C= (p.Ile534=) c.3834C= (p.Ile1278=) c.3786C= (p.Ile1262=) c.3555C= (p.Ile1185=) c.3456C= (p.Ile1152=) c.2637C= (p.Ile879=) n.4188C= | |
13 | g.51937328G>T | CA483893493 | ATP7B | c.*1619C>A (n.*1619C>A) c.*2713C>A (n.*2713C>A) c.3348C>A (p.Ile1116=) c.3969C>A (p.Ile1323=) c.3636C>A (p.Ile1212=) c.3717C>A (p.Ile1239=) n.1292C>A c.3735C>A (p.Ile1245=) n.4108C>A n.835C>A c.2904C>A (p.Ile968=) c.2679C>A (p.Ile893=) c.3774C>A (p.Ile1258=) c.1747C>A c.*1070C>A (n.*1070C>A) n.4713C>A n.3314C>A c.3825C>A (p.Ile1275=) c.3873C>A (p.Ile1291=) c.3933C>A (p.Ile1311=) c.3483C>A (p.Ile1161=) c.1785C>A (p.Ile595=) c.1602C>A (p.Ile534=) c.3834C>A (p.Ile1278=) c.3786C>A (p.Ile1262=) c.3555C>A (p.Ile1185=) c.3456C>A (p.Ile1152=) c.2637C>A (p.Ile879=) n.4188C>A | |
13 | g.51937329A>C | CA388021023 | ATP7B | c.*1618T>G (n.*1618T>G) c.*2712T>G (n.*2712T>G) c.3347T>G (p.Ile1116Ser) c.3968T>G (p.Ile1323Ser) c.3635T>G (p.Ile1212Ser) c.3716T>G (p.Ile1239Ser) n.1291T>G c.3734T>G (p.Ile1245Ser) n.4107T>G n.834T>G c.2903T>G (p.Ile968Ser) c.2678T>G (p.Ile893Ser) c.3773T>G (p.Ile1258Ser) c.1746T>G c.*1069T>G (n.*1069T>G) n.4712T>G n.3313T>G c.3824T>G (p.Ile1275Ser) c.3872T>G (p.Ile1291Ser) c.3932T>G (p.Ile1311Ser) c.3482T>G (p.Ile1161Ser) c.1784T>G (p.Ile595Ser) c.1601T>G (p.Ile534Ser) c.3833T>G (p.Ile1278Ser) c.3785T>G (p.Ile1262Ser) c.3554T>G (p.Ile1185Ser) c.3455T>G (p.Ile1152Ser) c.2636T>G (p.Ile879Ser) n.4187T>G | |
13 | g.51937329A>G | CA388021017 | ATP7B | c.*1618T>C (n.*1618T>C) c.*2712T>C (n.*2712T>C) c.3347T>C (p.Ile1116Thr) c.3968T>C (p.Ile1323Thr) c.3635T>C (p.Ile1212Thr) c.3716T>C (p.Ile1239Thr) n.1291T>C c.3734T>C (p.Ile1245Thr) n.4107T>C n.834T>C c.2903T>C (p.Ile968Thr) c.2678T>C (p.Ile893Thr) c.3773T>C (p.Ile1258Thr) c.1746T>C c.*1069T>C (n.*1069T>C) n.4712T>C n.3313T>C c.3824T>C (p.Ile1275Thr) c.3872T>C (p.Ile1291Thr) c.3932T>C (p.Ile1311Thr) c.3482T>C (p.Ile1161Thr) c.1784T>C (p.Ile595Thr) c.1601T>C (p.Ile534Thr) c.3833T>C (p.Ile1278Thr) c.3785T>C (p.Ile1262Thr) c.3554T>C (p.Ile1185Thr) c.3455T>C (p.Ile1152Thr) c.2636T>C (p.Ile879Thr) n.4187T>C | |
13 | g.51937329A>T | CA388021020 | ATP7B | c.*1618T>A (n.*1618T>A) c.*2712T>A (n.*2712T>A) c.3347T>A (p.Ile1116Asn) c.3968T>A (p.Ile1323Asn) c.3635T>A (p.Ile1212Asn) c.3716T>A (p.Ile1239Asn) n.1291T>A c.3734T>A (p.Ile1245Asn) n.4107T>A n.834T>A c.2903T>A (p.Ile968Asn) c.2678T>A (p.Ile893Asn) c.3773T>A (p.Ile1258Asn) c.1746T>A c.*1069T>A (n.*1069T>A) n.4712T>A n.3313T>A c.3824T>A (p.Ile1275Asn) c.3872T>A (p.Ile1291Asn) c.3932T>A (p.Ile1311Asn) c.3482T>A (p.Ile1161Asn) c.1784T>A (p.Ile595Asn) c.1601T>A (p.Ile534Asn) c.3833T>A (p.Ile1278Asn) c.3785T>A (p.Ile1262Asn) c.3554T>A (p.Ile1185Asn) c.3455T>A (p.Ile1152Asn) c.2636T>A (p.Ile879Asn) n.4187T>A | |
13 | g.51937330T>A | CA388021027 | ATP7B | c.*1617A>T (n.*1617A>T) c.*2711A>T (n.*2711A>T) c.3346A>T (p.Ile1116Phe) c.3967A>T (p.Ile1323Phe) c.3634A>T (p.Ile1212Phe) c.3715A>T (p.Ile1239Phe) n.1290A>T c.3733A>T (p.Ile1245Phe) n.4106A>T n.833A>T c.2902A>T (p.Ile968Phe) c.2677A>T (p.Ile893Phe) c.3772A>T (p.Ile1258Phe) c.1745A>T c.*1068A>T (n.*1068A>T) n.4711A>T n.3312A>T c.3823A>T (p.Ile1275Phe) c.3871A>T (p.Ile1291Phe) c.3931A>T (p.Ile1311Phe) c.3481A>T (p.Ile1161Phe) c.1783A>T (p.Ile595Phe) c.1600A>T (p.Ile534Phe) c.3832A>T (p.Ile1278Phe) c.3784A>T (p.Ile1262Phe) c.3553A>T (p.Ile1185Phe) c.3454A>T (p.Ile1152Phe) c.2635A>T (p.Ile879Phe) n.4186A>T | |
13 | g.51937330T>C | CA6988523 | ATP7B | c.*1617A>G (n.*1617A>G) c.*2711A>G (n.*2711A>G) c.3346A>G (p.Ile1116Val) c.3967A>G (p.Ile1323Val) c.3634A>G (p.Ile1212Val) c.3715A>G (p.Ile1239Val) n.1290A>G c.3733A>G (p.Ile1245Val) n.4106A>G n.833A>G c.2902A>G (p.Ile968Val) c.2677A>G (p.Ile893Val) c.3772A>G (p.Ile1258Val) c.1745A>G c.*1068A>G (n.*1068A>G) n.4711A>G n.3312A>G c.3823A>G (p.Ile1275Val) c.3871A>G (p.Ile1291Val) c.3931A>G (p.Ile1311Val) c.3481A>G (p.Ile1161Val) c.1783A>G (p.Ile595Val) c.1600A>G (p.Ile534Val) c.3832A>G (p.Ile1278Val) c.3784A>G (p.Ile1262Val) c.3553A>G (p.Ile1185Val) c.3454A>G (p.Ile1152Val) c.2635A>G (p.Ile879Val) n.4186A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937330T>G | CA388021032 | ATP7B | c.*1617A>C (n.*1617A>C) c.*2711A>C (n.*2711A>C) c.3346A>C (p.Ile1116Leu) c.3967A>C (p.Ile1323Leu) c.3634A>C (p.Ile1212Leu) c.3715A>C (p.Ile1239Leu) n.1290A>C c.3733A>C (p.Ile1245Leu) n.4106A>C n.833A>C c.2902A>C (p.Ile968Leu) c.2677A>C (p.Ile893Leu) c.3772A>C (p.Ile1258Leu) c.1745A>C c.*1068A>C (n.*1068A>C) n.4711A>C n.3312A>C c.3823A>C (p.Ile1275Leu) c.3871A>C (p.Ile1291Leu) c.3931A>C (p.Ile1311Leu) c.3481A>C (p.Ile1161Leu) c.1783A>C (p.Ile595Leu) c.1600A>C (p.Ile534Leu) c.3832A>C (p.Ile1278Leu) c.3784A>C (p.Ile1262Leu) c.3553A>C (p.Ile1185Leu) c.3454A>C (p.Ile1152Leu) c.2635A>C (p.Ile879Leu) n.4186A>C | gnomAD v4 |
13 | g.51937330T= | CA2091553419 | ATP7B | c.*1617A= (n.*1617A=) c.*2711A= (n.*2711A=) c.3346A= (p.Ile1116=) c.3967A= (p.Ile1323=) c.3634A= (p.Ile1212=) c.3715A= (p.Ile1239=) n.1290A= c.3733A= (p.Ile1245=) n.4106A= n.833A= c.2902A= (p.Ile968=) c.2677A= (p.Ile893=) c.3772A= (p.Ile1258=) c.1745A= c.*1068A= (n.*1068A=) n.4711A= n.3312A= c.3823A= (p.Ile1275=) c.3871A= (p.Ile1291=) c.3931A= (p.Ile1311=) c.3481A= (p.Ile1161=) c.1783A= (p.Ile595=) c.1600A= (p.Ile534=) c.3832A= (p.Ile1278=) c.3784A= (p.Ile1262=) c.3553A= (p.Ile1185=) c.3454A= (p.Ile1152=) c.2635A= (p.Ile879=) n.4186A= | |
13 | g.51937331G>A | CA483893495 | ATP7B | c.*1616C>T (n.*1616C>T) c.*2710C>T (n.*2710C>T) c.3345C>T (p.Arg1115=) c.3966C>T (p.Arg1322=) c.3633C>T (p.Arg1211=) c.3714C>T (p.Arg1238=) n.1289C>T c.3732C>T (p.Arg1244=) n.4105C>T n.832C>T c.2901C>T (p.Arg967=) c.2676C>T (p.Arg892=) c.3771C>T (p.Arg1257=) c.1744C>T c.*1067C>T (n.*1067C>T) n.4710C>T n.3311C>T c.3822C>T (p.Arg1274=) c.3870C>T (p.Arg1290=) c.3930C>T (p.Arg1310=) c.3480C>T (p.Arg1160=) c.1782C>T (p.Arg594=) c.1599C>T (p.Arg533=) c.3831C>T (p.Arg1277=) c.3783C>T (p.Arg1261=) c.3552C>T (p.Arg1184=) c.3453C>T (p.Arg1151=) c.2634C>T (p.Arg878=) n.4185C>T | gnomAD v4 |
13 | g.51937331G>C | CA483893496 | ATP7B | c.*1616C>G (n.*1616C>G) c.*2710C>G (n.*2710C>G) c.3345C>G (p.Arg1115=) c.3966C>G (p.Arg1322=) c.3633C>G (p.Arg1211=) c.3714C>G (p.Arg1238=) n.1289C>G c.3732C>G (p.Arg1244=) n.4105C>G n.832C>G c.2901C>G (p.Arg967=) c.2676C>G (p.Arg892=) c.3771C>G (p.Arg1257=) c.1744C>G c.*1067C>G (n.*1067C>G) n.4710C>G n.3311C>G c.3822C>G (p.Arg1274=) c.3870C>G (p.Arg1290=) c.3930C>G (p.Arg1310=) c.3480C>G (p.Arg1160=) c.1782C>G (p.Arg594=) c.1599C>G (p.Arg533=) c.3831C>G (p.Arg1277=) c.3783C>G (p.Arg1261=) c.3552C>G (p.Arg1184=) c.3453C>G (p.Arg1151=) c.2634C>G (p.Arg878=) n.4185C>G | |
13 | g.51937331G>T | CA483893497 | ATP7B | c.*1616C>A (n.*1616C>A) c.*2710C>A (n.*2710C>A) c.3345C>A (p.Arg1115=) c.3966C>A (p.Arg1322=) c.3633C>A (p.Arg1211=) c.3714C>A (p.Arg1238=) n.1289C>A c.3732C>A (p.Arg1244=) n.4105C>A n.832C>A c.2901C>A (p.Arg967=) c.2676C>A (p.Arg892=) c.3771C>A (p.Arg1257=) c.1744C>A c.*1067C>A (n.*1067C>A) n.4710C>A n.3311C>A c.3822C>A (p.Arg1274=) c.3870C>A (p.Arg1290=) c.3930C>A (p.Arg1310=) c.3480C>A (p.Arg1160=) c.1782C>A (p.Arg594=) c.1599C>A (p.Arg533=) c.3831C>A (p.Arg1277=) c.3783C>A (p.Arg1261=) c.3552C>A (p.Arg1184=) c.3453C>A (p.Arg1151=) c.2634C>A (p.Arg878=) n.4185C>A | |
13 | g.51937332C>A | CA388021033 | ATP7B | c.*1615G>T (n.*1615G>T) c.*2709G>T (n.*2709G>T) c.3344G>T (p.Arg1115Leu) c.3965G>T (p.Arg1322Leu) c.3632G>T (p.Arg1211Leu) c.3713G>T (p.Arg1238Leu) n.1288G>T c.3731G>T (p.Arg1244Leu) n.4104G>T n.831G>T c.2900G>T (p.Arg967Leu) c.2675G>T (p.Arg892Leu) c.3770G>T (p.Arg1257Leu) c.1743G>T c.*1066G>T (n.*1066G>T) n.4709G>T n.3310G>T c.3821G>T (p.Arg1274Leu) c.3869G>T (p.Arg1290Leu) c.3929G>T (p.Arg1310Leu) c.3479G>T (p.Arg1160Leu) c.1781G>T (p.Arg594Leu) c.1598G>T (p.Arg533Leu) c.3830G>T (p.Arg1277Leu) c.3782G>T (p.Arg1261Leu) c.3551G>T (p.Arg1184Leu) c.3452G>T (p.Arg1151Leu) c.2633G>T (p.Arg878Leu) n.4184G>T | |
13 | g.51937332C= | CA2091553426 | ATP7B | c.*1615G= (n.*1615G=) c.*2709G= (n.*2709G=) c.3344G= (p.Arg1115=) c.3965G= (p.Arg1322=) c.3632G= (p.Arg1211=) c.3713G= (p.Arg1238=) n.1288G= c.3731G= (p.Arg1244=) n.4104G= n.831G= c.2900G= (p.Arg967=) c.2675G= (p.Arg892=) c.3770G= (p.Arg1257=) c.1743G= c.*1066G= (n.*1066G=) n.4709G= n.3310G= c.3821G= (p.Arg1274=) c.3869G= (p.Arg1290=) c.3929G= (p.Arg1310=) c.3479G= (p.Arg1160=) c.1781G= (p.Arg594=) c.1598G= (p.Arg533=) c.3830G= (p.Arg1277=) c.3782G= (p.Arg1261=) c.3551G= (p.Arg1184=) c.3452G= (p.Arg1151=) c.2633G= (p.Arg878=) n.4184G= | |
13 | g.51937332C>G | CA250073357 | ATP7B | c.*1615G>C (n.*1615G>C) c.*2709G>C (n.*2709G>C) c.3344G>C (p.Arg1115Pro) c.3965G>C (p.Arg1322Pro) c.3632G>C (p.Arg1211Pro) c.3713G>C (p.Arg1238Pro) n.1288G>C c.3731G>C (p.Arg1244Pro) n.4104G>C n.831G>C c.2900G>C (p.Arg967Pro) c.2675G>C (p.Arg892Pro) c.3770G>C (p.Arg1257Pro) c.1743G>C c.*1066G>C (n.*1066G>C) n.4709G>C n.3310G>C c.3821G>C (p.Arg1274Pro) c.3869G>C (p.Arg1290Pro) c.3929G>C (p.Arg1310Pro) c.3479G>C (p.Arg1160Pro) c.1781G>C (p.Arg594Pro) c.1598G>C (p.Arg533Pro) c.3830G>C (p.Arg1277Pro) c.3782G>C (p.Arg1261Pro) c.3551G>C (p.Arg1184Pro) c.3452G>C (p.Arg1151Pro) c.2633G>C (p.Arg878Pro) n.4184G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937332C>T | CA6988524 | ATP7B | c.*1615G>A (n.*1615G>A) c.*2709G>A (n.*2709G>A) c.3344G>A (p.Arg1115His) c.3965G>A (p.Arg1322His) c.3632G>A (p.Arg1211His) c.3713G>A (p.Arg1238His) n.1288G>A c.3731G>A (p.Arg1244His) n.4104G>A n.831G>A c.2900G>A (p.Arg967His) c.2675G>A (p.Arg892His) c.3770G>A (p.Arg1257His) c.1743G>A c.*1066G>A (n.*1066G>A) n.4709G>A n.3310G>A c.3821G>A (p.Arg1274His) c.3869G>A (p.Arg1290His) c.3929G>A (p.Arg1310His) c.3479G>A (p.Arg1160His) c.1781G>A (p.Arg594His) c.1598G>A (p.Arg533His) c.3830G>A (p.Arg1277His) c.3782G>A (p.Arg1261His) c.3551G>A (p.Arg1184His) c.3452G>A (p.Arg1151His) c.2633G>A (p.Arg878His) n.4184G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51937333G>A | CA6988525 | ATP7B | c.*1614C>T (n.*1614C>T) c.*2708C>T (n.*2708C>T) c.3343C>T (p.Arg1115Cys) c.3964C>T (p.Arg1322Cys) c.3631C>T (p.Arg1211Cys) c.3712C>T (p.Arg1238Cys) n.1287C>T c.3730C>T (p.Arg1244Cys) n.4103C>T n.830C>T c.2899C>T (p.Arg967Cys) c.2674C>T (p.Arg892Cys) c.3769C>T (p.Arg1257Cys) c.1742C>T c.*1065C>T (n.*1065C>T) n.4708C>T n.3309C>T c.3820C>T (p.Arg1274Cys) c.3868C>T (p.Arg1290Cys) c.3928C>T (p.Arg1310Cys) c.3478C>T (p.Arg1160Cys) c.1780C>T (p.Arg594Cys) c.1597C>T (p.Arg533Cys) c.3829C>T (p.Arg1277Cys) c.3781C>T (p.Arg1261Cys) c.3550C>T (p.Arg1184Cys) c.3451C>T (p.Arg1151Cys) c.2632C>T (p.Arg878Cys) n.4183C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937333G>C | CA388021042 | ATP7B | c.*1614C>G (n.*1614C>G) c.*2708C>G (n.*2708C>G) c.3343C>G (p.Arg1115Gly) c.3964C>G (p.Arg1322Gly) c.3631C>G (p.Arg1211Gly) c.3712C>G (p.Arg1238Gly) n.1287C>G c.3730C>G (p.Arg1244Gly) n.4103C>G n.830C>G c.2899C>G (p.Arg967Gly) c.2674C>G (p.Arg892Gly) c.3769C>G (p.Arg1257Gly) c.1742C>G c.*1065C>G (n.*1065C>G) n.4708C>G n.3309C>G c.3820C>G (p.Arg1274Gly) c.3868C>G (p.Arg1290Gly) c.3928C>G (p.Arg1310Gly) c.3478C>G (p.Arg1160Gly) c.1780C>G (p.Arg594Gly) c.1597C>G (p.Arg533Gly) c.3829C>G (p.Arg1277Gly) c.3781C>G (p.Arg1261Gly) c.3550C>G (p.Arg1184Gly) c.3451C>G (p.Arg1151Gly) c.2632C>G (p.Arg878Gly) n.4183C>G | |
13 | g.51937333G= | CA2091553434 | ATP7B | c.*1614C= (n.*1614C=) c.*2708C= (n.*2708C=) c.3343C= (p.Arg1115=) c.3964C= (p.Arg1322=) c.3631C= (p.Arg1211=) c.3712C= (p.Arg1238=) n.1287C= c.3730C= (p.Arg1244=) n.4103C= n.830C= c.2899C= (p.Arg967=) c.2674C= (p.Arg892=) c.3769C= (p.Arg1257=) c.1742C= c.*1065C= (n.*1065C=) n.4708C= n.3309C= c.3820C= (p.Arg1274=) c.3868C= (p.Arg1290=) c.3928C= (p.Arg1310=) c.3478C= (p.Arg1160=) c.1780C= (p.Arg594=) c.1597C= (p.Arg533=) c.3829C= (p.Arg1277=) c.3781C= (p.Arg1261=) c.3550C= (p.Arg1184=) c.3451C= (p.Arg1151=) c.2632C= (p.Arg878=) n.4183C= | |
13 | g.51937333G>T | CA388021044 | ATP7B | c.*1614C>A (n.*1614C>A) c.*2708C>A (n.*2708C>A) c.3343C>A (p.Arg1115Ser) c.3964C>A (p.Arg1322Ser) c.3631C>A (p.Arg1211Ser) c.3712C>A (p.Arg1238Ser) n.1287C>A c.3730C>A (p.Arg1244Ser) n.4103C>A n.830C>A c.2899C>A (p.Arg967Ser) c.2674C>A (p.Arg892Ser) c.3769C>A (p.Arg1257Ser) c.1742C>A c.*1065C>A (n.*1065C>A) n.4708C>A n.3309C>A c.3820C>A (p.Arg1274Ser) c.3868C>A (p.Arg1290Ser) c.3928C>A (p.Arg1310Ser) c.3478C>A (p.Arg1160Ser) c.1780C>A (p.Arg594Ser) c.1597C>A (p.Arg533Ser) c.3829C>A (p.Arg1277Ser) c.3781C>A (p.Arg1261Ser) c.3550C>A (p.Arg1184Ser) c.3451C>A (p.Arg1151Ser) c.2632C>A (p.Arg878Ser) n.4183C>A | |
13 | g.51937333_51937334dup | CA2573149691 | ATP7B | c.*1613_*1614dup (n.*1613_*1614dup) c.*2707_*2708dup (n.*2707_*2708dup) c.3342_3343dup (p.Arg1115HisfsTer9) c.3963_3964dup (p.Arg1322HisfsTer9) c.3630_3631dup (p.Arg1211HisfsTer9) c.3711_3712dup (p.Arg1238HisfsTer9) n.1286_1287dup c.3729_3730dup (p.Arg1244HisfsTer9) n.4102_4103dup n.829_830dup c.2898_2899dup (p.Arg967HisfsTer9) c.2673_2674dup (p.Arg892HisfsTer9) c.3768_3769dup (p.Arg1257HisfsTer9) c.1741_1742dup c.*1064_*1065dup (n.*1064_*1065dup) n.4707_4708dup n.3308_3309dup c.3819_3820dup (p.Arg1274HisfsTer9) c.3867_3868dup (p.Arg1290HisfsTer9) c.3927_3928dup (p.Arg1310HisfsTer9) c.3477_3478dup (p.Arg1160HisfsTer9) c.1779_1780dup (p.Arg594HisfsTer9) c.1596_1597dup (p.Arg533HisfsTer9) c.3828_3829dup (p.Arg1277HisfsTer9) c.3780_3781dup (p.Arg1261HisfsTer9) c.3549_3550dup (p.Arg1184HisfsTer9) c.3450_3451dup (p.Arg1151HisfsTer9) c.2631_2632dup (p.Arg878HisfsTer9) n.4182_4183dup | ClinVar dbSNP |
13 | g.51937334T>A | CA483893498 | ATP7B | c.*1613A>T (n.*1613A>T) c.*2707A>T (n.*2707A>T) c.3342A>T (p.Ile1114=) c.3963A>T (p.Ile1321=) c.3630A>T (p.Ile1210=) c.3711A>T (p.Ile1237=) n.1286A>T c.3729A>T (p.Ile1243=) n.4102A>T n.829A>T c.2898A>T (p.Ile966=) c.2673A>T (p.Ile891=) c.3768A>T (p.Ile1256=) c.1741A>T c.*1064A>T (n.*1064A>T) n.4707A>T n.3308A>T c.3819A>T (p.Ile1273=) c.3867A>T (p.Ile1289=) c.3927A>T (p.Ile1309=) c.3477A>T (p.Ile1159=) c.1779A>T (p.Ile593=) c.1596A>T (p.Ile532=) c.3828A>T (p.Ile1276=) c.3780A>T (p.Ile1260=) c.3549A>T (p.Ile1183=) c.3450A>T (p.Ile1150=) c.2631A>T (p.Ile877=) n.4182A>T | |
13 | g.51937334T>C | CA388021047 | ATP7B | c.*1613A>G (n.*1613A>G) c.*2707A>G (n.*2707A>G) c.3342A>G (p.Ile1114Met) c.3963A>G (p.Ile1321Met) c.3630A>G (p.Ile1210Met) c.3711A>G (p.Ile1237Met) n.1286A>G c.3729A>G (p.Ile1243Met) n.4102A>G n.829A>G c.2898A>G (p.Ile966Met) c.2673A>G (p.Ile891Met) c.3768A>G (p.Ile1256Met) c.1741A>G c.*1064A>G (n.*1064A>G) n.4707A>G n.3308A>G c.3819A>G (p.Ile1273Met) c.3867A>G (p.Ile1289Met) c.3927A>G (p.Ile1309Met) c.3477A>G (p.Ile1159Met) c.1779A>G (p.Ile593Met) c.1596A>G (p.Ile532Met) c.3828A>G (p.Ile1276Met) c.3780A>G (p.Ile1260Met) c.3549A>G (p.Ile1183Met) c.3450A>G (p.Ile1150Met) c.2631A>G (p.Ile877Met) n.4182A>G | gnomAD v4 |
13 | g.51937334T>G | CA483893499 | ATP7B | c.*1613A>C (n.*1613A>C) c.*2707A>C (n.*2707A>C) c.3342A>C (p.Ile1114=) c.3963A>C (p.Ile1321=) c.3630A>C (p.Ile1210=) c.3711A>C (p.Ile1237=) n.1286A>C c.3729A>C (p.Ile1243=) n.4102A>C n.829A>C c.2898A>C (p.Ile966=) c.2673A>C (p.Ile891=) c.3768A>C (p.Ile1256=) c.1741A>C c.*1064A>C (n.*1064A>C) n.4707A>C n.3308A>C c.3819A>C (p.Ile1273=) c.3867A>C (p.Ile1289=) c.3927A>C (p.Ile1309=) c.3477A>C (p.Ile1159=) c.1779A>C (p.Ile593=) c.1596A>C (p.Ile532=) c.3828A>C (p.Ile1276=) c.3780A>C (p.Ile1260=) c.3549A>C (p.Ile1183=) c.3450A>C (p.Ile1150=) c.2631A>C (p.Ile877=) n.4182A>C | |
13 | g.51937335A>C | CA388021049 | ATP7B | c.*1612T>G (n.*1612T>G) c.*2706T>G (n.*2706T>G) c.3341T>G (p.Ile1114Arg) c.3962T>G (p.Ile1321Arg) c.3629T>G (p.Ile1210Arg) c.3710T>G (p.Ile1237Arg) n.1285T>G c.3728T>G (p.Ile1243Arg) n.4101T>G n.828T>G c.2897T>G (p.Ile966Arg) c.2672T>G (p.Ile891Arg) c.3767T>G (p.Ile1256Arg) c.1740T>G c.*1063T>G (n.*1063T>G) n.4706T>G n.3307T>G c.3818T>G (p.Ile1273Arg) c.3866T>G (p.Ile1289Arg) c.3926T>G (p.Ile1309Arg) c.3476T>G (p.Ile1159Arg) c.1778T>G (p.Ile593Arg) c.1595T>G (p.Ile532Arg) c.3827T>G (p.Ile1276Arg) c.3779T>G (p.Ile1260Arg) c.3548T>G (p.Ile1183Arg) c.3449T>G (p.Ile1150Arg) c.2630T>G (p.Ile877Arg) n.4181T>G | |
13 | g.51937335A>G | CA388021056 | ATP7B | c.*1612T>C (n.*1612T>C) c.*2706T>C (n.*2706T>C) c.3341T>C (p.Ile1114Thr) c.3962T>C (p.Ile1321Thr) c.3629T>C (p.Ile1210Thr) c.3710T>C (p.Ile1237Thr) n.1285T>C c.3728T>C (p.Ile1243Thr) n.4101T>C n.828T>C c.2897T>C (p.Ile966Thr) c.2672T>C (p.Ile891Thr) c.3767T>C (p.Ile1256Thr) c.1740T>C c.*1063T>C (n.*1063T>C) n.4706T>C n.3307T>C c.3818T>C (p.Ile1273Thr) c.3866T>C (p.Ile1289Thr) c.3926T>C (p.Ile1309Thr) c.3476T>C (p.Ile1159Thr) c.1778T>C (p.Ile593Thr) c.1595T>C (p.Ile532Thr) c.3827T>C (p.Ile1276Thr) c.3779T>C (p.Ile1260Thr) c.3548T>C (p.Ile1183Thr) c.3449T>C (p.Ile1150Thr) c.2630T>C (p.Ile877Thr) n.4181T>C | |
13 | g.51937335A>T | CA388021053 | ATP7B | c.*1612T>A (n.*1612T>A) c.*2706T>A (n.*2706T>A) c.3341T>A (p.Ile1114Lys) c.3962T>A (p.Ile1321Lys) c.3629T>A (p.Ile1210Lys) c.3710T>A (p.Ile1237Lys) n.1285T>A c.3728T>A (p.Ile1243Lys) n.4101T>A n.828T>A c.2897T>A (p.Ile966Lys) c.2672T>A (p.Ile891Lys) c.3767T>A (p.Ile1256Lys) c.1740T>A c.*1063T>A (n.*1063T>A) n.4706T>A n.3307T>A c.3818T>A (p.Ile1273Lys) c.3866T>A (p.Ile1289Lys) c.3926T>A (p.Ile1309Lys) c.3476T>A (p.Ile1159Lys) c.1778T>A (p.Ile593Lys) c.1595T>A (p.Ile532Lys) c.3827T>A (p.Ile1276Lys) c.3779T>A (p.Ile1260Lys) c.3548T>A (p.Ile1183Lys) c.3449T>A (p.Ile1150Lys) c.2630T>A (p.Ile877Lys) n.4181T>A | |
13 | g.51937336T>A | CA388021057 | ATP7B | c.*1611A>T (n.*1611A>T) c.*2705A>T (n.*2705A>T) c.3340A>T (p.Ile1114Leu) c.3961A>T (p.Ile1321Leu) c.3628A>T (p.Ile1210Leu) c.3709A>T (p.Ile1237Leu) n.1284A>T c.3727A>T (p.Ile1243Leu) n.4100A>T n.827A>T c.2896A>T (p.Ile966Leu) c.2671A>T (p.Ile891Leu) c.3766A>T (p.Ile1256Leu) c.1739A>T c.*1062A>T (n.*1062A>T) n.4705A>T n.3306A>T c.3817A>T (p.Ile1273Leu) c.3865A>T (p.Ile1289Leu) c.3925A>T (p.Ile1309Leu) c.3475A>T (p.Ile1159Leu) c.1777A>T (p.Ile593Leu) c.1594A>T (p.Ile532Leu) c.3826A>T (p.Ile1276Leu) c.3778A>T (p.Ile1260Leu) c.3547A>T (p.Ile1183Leu) c.3448A>T (p.Ile1150Leu) c.2629A>T (p.Ile877Leu) n.4180A>T | ClinVar gnomAD v4 |
13 | g.51937336T>C | CA388021059 | ATP7B | c.*1611A>G (n.*1611A>G) c.*2705A>G (n.*2705A>G) c.3340A>G (p.Ile1114Val) c.3961A>G (p.Ile1321Val) c.3628A>G (p.Ile1210Val) c.3709A>G (p.Ile1237Val) n.1284A>G c.3727A>G (p.Ile1243Val) n.4100A>G n.827A>G c.2896A>G (p.Ile966Val) c.2671A>G (p.Ile891Val) c.3766A>G (p.Ile1256Val) c.1739A>G c.*1062A>G (n.*1062A>G) n.4705A>G n.3306A>G c.3817A>G (p.Ile1273Val) c.3865A>G (p.Ile1289Val) c.3925A>G (p.Ile1309Val) c.3475A>G (p.Ile1159Val) c.1777A>G (p.Ile593Val) c.1594A>G (p.Ile532Val) c.3826A>G (p.Ile1276Val) c.3778A>G (p.Ile1260Val) c.3547A>G (p.Ile1183Val) c.3448A>G (p.Ile1150Val) c.2629A>G (p.Ile877Val) n.4180A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937336T>G | CA388021062 | ATP7B | c.*1611A>C (n.*1611A>C) c.*2705A>C (n.*2705A>C) c.3340A>C (p.Ile1114Leu) c.3961A>C (p.Ile1321Leu) c.3628A>C (p.Ile1210Leu) c.3709A>C (p.Ile1237Leu) n.1284A>C c.3727A>C (p.Ile1243Leu) n.4100A>C n.827A>C c.2896A>C (p.Ile966Leu) c.2671A>C (p.Ile891Leu) c.3766A>C (p.Ile1256Leu) c.1739A>C c.*1062A>C (n.*1062A>C) n.4705A>C n.3306A>C c.3817A>C (p.Ile1273Leu) c.3865A>C (p.Ile1289Leu) c.3925A>C (p.Ile1309Leu) c.3475A>C (p.Ile1159Leu) c.1777A>C (p.Ile593Leu) c.1594A>C (p.Ile532Leu) c.3826A>C (p.Ile1276Leu) c.3778A>C (p.Ile1260Leu) c.3547A>C (p.Ile1183Leu) c.3448A>C (p.Ile1150Leu) c.2629A>C (p.Ile877Leu) n.4180A>C | |
13 | g.51937336T= | CA2091553439 | ATP7B | c.*1611A= (n.*1611A=) c.*2705A= (n.*2705A=) c.3340A= (p.Ile1114=) c.3961A= (p.Ile1321=) c.3628A= (p.Ile1210=) c.3709A= (p.Ile1237=) n.1284A= c.3727A= (p.Ile1243=) n.4100A= n.827A= c.2896A= (p.Ile966=) c.2671A= (p.Ile891=) c.3766A= (p.Ile1256=) c.1739A= c.*1062A= (n.*1062A=) n.4705A= n.3306A= c.3817A= (p.Ile1273=) c.3865A= (p.Ile1289=) c.3925A= (p.Ile1309=) c.3475A= (p.Ile1159=) c.1777A= (p.Ile593=) c.1594A= (p.Ile532=) c.3826A= (p.Ile1276=) c.3778A= (p.Ile1260=) c.3547A= (p.Ile1183=) c.3448A= (p.Ile1150=) c.2629A= (p.Ile877=) n.4180A= | |
13 | g.51937337C>A | CA388021067 | ATP7B | c.*1610G>T (n.*1610G>T) c.*2704G>T (n.*2704G>T) c.3339G>T (p.Arg1113Ser) c.3960G>T (p.Arg1320Ser) c.3627G>T (p.Arg1209Ser) c.3708G>T (p.Arg1236Ser) n.1283G>T c.3726G>T (p.Arg1242Ser) n.4099G>T n.826G>T c.2895G>T (p.Arg965Ser) c.2670G>T (p.Arg890Ser) c.3765G>T (p.Arg1255Ser) c.1738G>T c.*1061G>T (n.*1061G>T) n.4704G>T n.3305G>T c.3816G>T (p.Arg1272Ser) c.3864G>T (p.Arg1288Ser) c.3924G>T (p.Arg1308Ser) c.3474G>T (p.Arg1158Ser) c.1776G>T (p.Arg592Ser) c.1593G>T (p.Arg531Ser) c.3825G>T (p.Arg1275Ser) c.3777G>T (p.Arg1259Ser) c.3546G>T (p.Arg1182Ser) c.3447G>T (p.Arg1149Ser) c.2628G>T (p.Arg876Ser) n.4179G>T | |
13 | g.51937337C= | CA2091553443 | ATP7B | c.*1610G= (n.*1610G=) c.*2704G= (n.*2704G=) c.3339G= (p.Arg1113=) c.3960G= (p.Arg1320=) c.3627G= (p.Arg1209=) c.3708G= (p.Arg1236=) n.1283G= c.3726G= (p.Arg1242=) n.4099G= n.826G= c.2895G= (p.Arg965=) c.2670G= (p.Arg890=) c.3765G= (p.Arg1255=) c.1738G= c.*1061G= (n.*1061G=) n.4704G= n.3305G= c.3816G= (p.Arg1272=) c.3864G= (p.Arg1288=) c.3924G= (p.Arg1308=) c.3474G= (p.Arg1158=) c.1776G= (p.Arg592=) c.1593G= (p.Arg531=) c.3825G= (p.Arg1275=) c.3777G= (p.Arg1259=) c.3546G= (p.Arg1182=) c.3447G= (p.Arg1149=) c.2628G= (p.Arg876=) n.4179G= | |
13 | g.51937337C>G | CA6988526 | ATP7B | c.*1610G>C (n.*1610G>C) c.*2704G>C (n.*2704G>C) c.3339G>C (p.Arg1113Ser) c.3960G>C (p.Arg1320Ser) c.3627G>C (p.Arg1209Ser) c.3708G>C (p.Arg1236Ser) n.1283G>C c.3726G>C (p.Arg1242Ser) n.4099G>C n.826G>C c.2895G>C (p.Arg965Ser) c.2670G>C (p.Arg890Ser) c.3765G>C (p.Arg1255Ser) c.1738G>C c.*1061G>C (n.*1061G>C) n.4704G>C n.3305G>C c.3816G>C (p.Arg1272Ser) c.3864G>C (p.Arg1288Ser) c.3924G>C (p.Arg1308Ser) c.3474G>C (p.Arg1158Ser) c.1776G>C (p.Arg592Ser) c.1593G>C (p.Arg531Ser) c.3825G>C (p.Arg1275Ser) c.3777G>C (p.Arg1259Ser) c.3546G>C (p.Arg1182Ser) c.3447G>C (p.Arg1149Ser) c.2628G>C (p.Arg876Ser) n.4179G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937337C>T | CA483893500 | ATP7B | c.*1610G>A (n.*1610G>A) c.*2704G>A (n.*2704G>A) c.3339G>A (p.Arg1113=) c.3960G>A (p.Arg1320=) c.3627G>A (p.Arg1209=) c.3708G>A (p.Arg1236=) n.1283G>A c.3726G>A (p.Arg1242=) n.4099G>A n.826G>A c.2895G>A (p.Arg965=) c.2670G>A (p.Arg890=) c.3765G>A (p.Arg1255=) c.1738G>A c.*1061G>A (n.*1061G>A) n.4704G>A n.3305G>A c.3816G>A (p.Arg1272=) c.3864G>A (p.Arg1288=) c.3924G>A (p.Arg1308=) c.3474G>A (p.Arg1158=) c.1776G>A (p.Arg592=) c.1593G>A (p.Arg531=) c.3825G>A (p.Arg1275=) c.3777G>A (p.Arg1259=) c.3546G>A (p.Arg1182=) c.3447G>A (p.Arg1149=) c.2628G>A (p.Arg876=) n.4179G>A | |
13 | g.51937338C>A | CA388021080 | ATP7B | c.*1609G>T (n.*1609G>T) c.*2703G>T (n.*2703G>T) c.3338G>T (p.Arg1113Met) c.3959G>T (p.Arg1320Met) c.3626G>T (p.Arg1209Met) c.3707G>T (p.Arg1236Met) n.1282G>T c.3725G>T (p.Arg1242Met) n.4098G>T n.825G>T c.2894G>T (p.Arg965Met) c.2669G>T (p.Arg890Met) c.3764G>T (p.Arg1255Met) c.1737G>T c.*1060G>T (n.*1060G>T) n.4703G>T n.3304G>T c.3815G>T (p.Arg1272Met) c.3863G>T (p.Arg1288Met) c.3923G>T (p.Arg1308Met) c.3473G>T (p.Arg1158Met) c.1775G>T (p.Arg592Met) c.1592G>T (p.Arg531Met) c.3824G>T (p.Arg1275Met) c.3776G>T (p.Arg1259Met) c.3545G>T (p.Arg1182Met) c.3446G>T (p.Arg1149Met) c.2627G>T (p.Arg876Met) n.4178G>T | |
13 | g.51937338C= | CA2091553452 | ATP7B | c.*1609G= (n.*1609G=) c.*2703G= (n.*2703G=) c.3338G= (p.Arg1113=) c.3959G= (p.Arg1320=) c.3626G= (p.Arg1209=) c.3707G= (p.Arg1236=) n.1282G= c.3725G= (p.Arg1242=) n.4098G= n.825G= c.2894G= (p.Arg965=) c.2669G= (p.Arg890=) c.3764G= (p.Arg1255=) c.1737G= c.*1060G= (n.*1060G=) n.4703G= n.3304G= c.3815G= (p.Arg1272=) c.3863G= (p.Arg1288=) c.3923G= (p.Arg1308=) c.3473G= (p.Arg1158=) c.1775G= (p.Arg592=) c.1592G= (p.Arg531=) c.3824G= (p.Arg1275=) c.3776G= (p.Arg1259=) c.3545G= (p.Arg1182=) c.3446G= (p.Arg1149=) c.2627G= (p.Arg876=) n.4178G= | |
13 | g.51937338C>G | CA6988527 | ATP7B | c.*1609G>C (n.*1609G>C) c.*2703G>C (n.*2703G>C) c.3338G>C (p.Arg1113Thr) c.3959G>C (p.Arg1320Thr) c.3626G>C (p.Arg1209Thr) c.3707G>C (p.Arg1236Thr) n.1282G>C c.3725G>C (p.Arg1242Thr) n.4098G>C n.825G>C c.2894G>C (p.Arg965Thr) c.2669G>C (p.Arg890Thr) c.3764G>C (p.Arg1255Thr) c.1737G>C c.*1060G>C (n.*1060G>C) n.4703G>C n.3304G>C c.3815G>C (p.Arg1272Thr) c.3863G>C (p.Arg1288Thr) c.3923G>C (p.Arg1308Thr) c.3473G>C (p.Arg1158Thr) c.1775G>C (p.Arg592Thr) c.1592G>C (p.Arg531Thr) c.3824G>C (p.Arg1275Thr) c.3776G>C (p.Arg1259Thr) c.3545G>C (p.Arg1182Thr) c.3446G>C (p.Arg1149Thr) c.2627G>C (p.Arg876Thr) n.4178G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937338C>T | CA6988528 | ATP7B | c.*1609G>A (n.*1609G>A) c.*2703G>A (n.*2703G>A) c.3338G>A (p.Arg1113Lys) c.3959G>A (p.Arg1320Lys) c.3626G>A (p.Arg1209Lys) c.3707G>A (p.Arg1236Lys) n.1282G>A c.3725G>A (p.Arg1242Lys) n.4098G>A n.825G>A c.2894G>A (p.Arg965Lys) c.2669G>A (p.Arg890Lys) c.3764G>A (p.Arg1255Lys) c.1737G>A c.*1060G>A (n.*1060G>A) n.4703G>A n.3304G>A c.3815G>A (p.Arg1272Lys) c.3863G>A (p.Arg1288Lys) c.3923G>A (p.Arg1308Lys) c.3473G>A (p.Arg1158Lys) c.1775G>A (p.Arg592Lys) c.1592G>A (p.Arg531Lys) c.3824G>A (p.Arg1275Lys) c.3776G>A (p.Arg1259Lys) c.3545G>A (p.Arg1182Lys) c.3446G>A (p.Arg1149Lys) c.2627G>A (p.Arg876Lys) n.4178G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937339T>A | CA388021084 | ATP7B | c.*1608A>T (n.*1608A>T) c.*2702A>T (n.*2702A>T) c.3337A>T (p.Arg1113Trp) c.3958A>T (p.Arg1320Trp) c.3625A>T (p.Arg1209Trp) c.3706A>T (p.Arg1236Trp) n.1281A>T c.3724A>T (p.Arg1242Trp) n.4097A>T n.824A>T c.2893A>T (p.Arg965Trp) c.2668A>T (p.Arg890Trp) c.3763A>T (p.Arg1255Trp) c.1736A>T c.*1059A>T (n.*1059A>T) n.4702A>T n.3303A>T c.3814A>T (p.Arg1272Trp) c.3862A>T (p.Arg1288Trp) c.3922A>T (p.Arg1308Trp) c.3472A>T (p.Arg1158Trp) c.1774A>T (p.Arg592Trp) c.1591A>T (p.Arg531Trp) c.3823A>T (p.Arg1275Trp) c.3775A>T (p.Arg1259Trp) c.3544A>T (p.Arg1182Trp) c.3445A>T (p.Arg1149Trp) c.2626A>T (p.Arg876Trp) n.4177A>T | |
13 | g.51937339T>C | CA388021086 | ATP7B | c.*1608A>G (n.*1608A>G) c.*2702A>G (n.*2702A>G) c.3337A>G (p.Arg1113Gly) c.3958A>G (p.Arg1320Gly) c.3625A>G (p.Arg1209Gly) c.3706A>G (p.Arg1236Gly) n.1281A>G c.3724A>G (p.Arg1242Gly) n.4097A>G n.824A>G c.2893A>G (p.Arg965Gly) c.2668A>G (p.Arg890Gly) c.3763A>G (p.Arg1255Gly) c.1736A>G c.*1059A>G (n.*1059A>G) n.4702A>G n.3303A>G c.3814A>G (p.Arg1272Gly) c.3862A>G (p.Arg1288Gly) c.3922A>G (p.Arg1308Gly) c.3472A>G (p.Arg1158Gly) c.1774A>G (p.Arg592Gly) c.1591A>G (p.Arg531Gly) c.3823A>G (p.Arg1275Gly) c.3775A>G (p.Arg1259Gly) c.3544A>G (p.Arg1182Gly) c.3445A>G (p.Arg1149Gly) c.2626A>G (p.Arg876Gly) n.4177A>G | ClinVar dbSNP gnomAD v4 |
13 | g.51937339T>G | CA483893501 | ATP7B | c.*1608A>C (n.*1608A>C) c.*2702A>C (n.*2702A>C) c.3337A>C (p.Arg1113=) c.3958A>C (p.Arg1320=) c.3625A>C (p.Arg1209=) c.3706A>C (p.Arg1236=) n.1281A>C c.3724A>C (p.Arg1242=) n.4097A>C n.824A>C c.2893A>C (p.Arg965=) c.2668A>C (p.Arg890=) c.3763A>C (p.Arg1255=) c.1736A>C c.*1059A>C (n.*1059A>C) n.4702A>C n.3303A>C c.3814A>C (p.Arg1272=) c.3862A>C (p.Arg1288=) c.3922A>C (p.Arg1308=) c.3472A>C (p.Arg1158=) c.1774A>C (p.Arg592=) c.1591A>C (p.Arg531=) c.3823A>C (p.Arg1275=) c.3775A>C (p.Arg1259=) c.3544A>C (p.Arg1182=) c.3445A>C (p.Arg1149=) c.2626A>C (p.Arg876=) n.4177A>C | |
13 | g.51937340T>A | CA483893504 | ATP7B | c.*1607A>T (n.*1607A>T) c.*2701A>T (n.*2701A>T) c.3336A>T (p.Arg1112=) c.3957A>T (p.Arg1319=) c.3624A>T (p.Arg1208=) c.3705A>T (p.Arg1235=) n.1280A>T c.3723A>T (p.Arg1241=) n.4096A>T n.823A>T c.2892A>T (p.Arg964=) c.2667A>T (p.Arg889=) c.3762A>T (p.Arg1254=) c.1735A>T c.*1058A>T (n.*1058A>T) n.4701A>T n.3302A>T c.3813A>T (p.Arg1271=) c.3861A>T (p.Arg1287=) c.3921A>T (p.Arg1307=) c.3471A>T (p.Arg1157=) c.1773A>T (p.Arg591=) c.1590A>T (p.Arg530=) c.3822A>T (p.Arg1274=) c.3774A>T (p.Arg1258=) c.3543A>T (p.Arg1181=) c.3444A>T (p.Arg1148=) c.2625A>T (p.Arg875=) n.4176A>T | |
13 | g.51937340T>C | CA483893502 | ATP7B | c.*1607A>G (n.*1607A>G) c.*2701A>G (n.*2701A>G) c.3336A>G (p.Arg1112=) c.3957A>G (p.Arg1319=) c.3624A>G (p.Arg1208=) c.3705A>G (p.Arg1235=) n.1280A>G c.3723A>G (p.Arg1241=) n.4096A>G n.823A>G c.2892A>G (p.Arg964=) c.2667A>G (p.Arg889=) c.3762A>G (p.Arg1254=) c.1735A>G c.*1058A>G (n.*1058A>G) n.4701A>G n.3302A>G c.3813A>G (p.Arg1271=) c.3861A>G (p.Arg1287=) c.3921A>G (p.Arg1307=) c.3471A>G (p.Arg1157=) c.1773A>G (p.Arg591=) c.1590A>G (p.Arg530=) c.3822A>G (p.Arg1274=) c.3774A>G (p.Arg1258=) c.3543A>G (p.Arg1181=) c.3444A>G (p.Arg1148=) c.2625A>G (p.Arg875=) n.4176A>G | |
13 | g.51937340T>G | CA483893503 | ATP7B | c.*1607A>C (n.*1607A>C) c.*2701A>C (n.*2701A>C) c.3336A>C (p.Arg1112=) c.3957A>C (p.Arg1319=) c.3624A>C (p.Arg1208=) c.3705A>C (p.Arg1235=) n.1280A>C c.3723A>C (p.Arg1241=) n.4096A>C n.823A>C c.2892A>C (p.Arg964=) c.2667A>C (p.Arg889=) c.3762A>C (p.Arg1254=) c.1735A>C c.*1058A>C (n.*1058A>C) n.4701A>C n.3302A>C c.3813A>C (p.Arg1271=) c.3861A>C (p.Arg1287=) c.3921A>C (p.Arg1307=) c.3471A>C (p.Arg1157=) c.1773A>C (p.Arg591=) c.1590A>C (p.Arg530=) c.3822A>C (p.Arg1274=) c.3774A>C (p.Arg1258=) c.3543A>C (p.Arg1181=) c.3444A>C (p.Arg1148=) c.2625A>C (p.Arg875=) n.4176A>C | |
13 | g.51937341C>A | CA388021088 | ATP7B | c.*1606G>T (n.*1606G>T) c.*2700G>T (n.*2700G>T) c.3335G>T (p.Arg1112Leu) c.3956G>T (p.Arg1319Leu) c.3623G>T (p.Arg1208Leu) c.3704G>T (p.Arg1235Leu) n.1279G>T c.3722G>T (p.Arg1241Leu) n.4095G>T n.822G>T c.2891G>T (p.Arg964Leu) c.2666G>T (p.Arg889Leu) c.3761G>T (p.Arg1254Leu) c.1734G>T c.*1057G>T (n.*1057G>T) n.4700G>T n.3301G>T c.3812G>T (p.Arg1271Leu) c.3860G>T (p.Arg1287Leu) c.3920G>T (p.Arg1307Leu) c.3470G>T (p.Arg1157Leu) c.1772G>T (p.Arg591Leu) c.1589G>T (p.Arg530Leu) c.3821G>T (p.Arg1274Leu) c.3773G>T (p.Arg1258Leu) c.3542G>T (p.Arg1181Leu) c.3443G>T (p.Arg1148Leu) c.2624G>T (p.Arg875Leu) n.4175G>T | |
13 | g.51937341C= | CA2091553455 | ATP7B | c.*1606G= (n.*1606G=) c.*2700G= (n.*2700G=) c.3335G= (p.Arg1112=) c.3956G= (p.Arg1319=) c.3623G= (p.Arg1208=) c.3704G= (p.Arg1235=) n.1279G= c.3722G= (p.Arg1241=) n.4095G= n.822G= c.2891G= (p.Arg964=) c.2666G= (p.Arg889=) c.3761G= (p.Arg1254=) c.1734G= c.*1057G= (n.*1057G=) n.4700G= n.3301G= c.3812G= (p.Arg1271=) c.3860G= (p.Arg1287=) c.3920G= (p.Arg1307=) c.3470G= (p.Arg1157=) c.1772G= (p.Arg591=) c.1589G= (p.Arg530=) c.3821G= (p.Arg1274=) c.3773G= (p.Arg1258=) c.3542G= (p.Arg1181=) c.3443G= (p.Arg1148=) c.2624G= (p.Arg875=) n.4175G= | |
13 | g.51937341C>G | CA388021089 | ATP7B | c.*1606G>C (n.*1606G>C) c.*2700G>C (n.*2700G>C) c.3335G>C (p.Arg1112Pro) c.3956G>C (p.Arg1319Pro) c.3623G>C (p.Arg1208Pro) c.3704G>C (p.Arg1235Pro) n.1279G>C c.3722G>C (p.Arg1241Pro) n.4095G>C n.822G>C c.2891G>C (p.Arg964Pro) c.2666G>C (p.Arg889Pro) c.3761G>C (p.Arg1254Pro) c.1734G>C c.*1057G>C (n.*1057G>C) n.4700G>C n.3301G>C c.3812G>C (p.Arg1271Pro) c.3860G>C (p.Arg1287Pro) c.3920G>C (p.Arg1307Pro) c.3470G>C (p.Arg1157Pro) c.1772G>C (p.Arg591Pro) c.1589G>C (p.Arg530Pro) c.3821G>C (p.Arg1274Pro) c.3773G>C (p.Arg1258Pro) c.3542G>C (p.Arg1181Pro) c.3443G>C (p.Arg1148Pro) c.2624G>C (p.Arg875Pro) n.4175G>C | |
13 | g.51937341C>T | CA6988529 | ATP7B | c.*1606G>A (n.*1606G>A) c.*2700G>A (n.*2700G>A) c.3335G>A (p.Arg1112Gln) c.3956G>A (p.Arg1319Gln) c.3623G>A (p.Arg1208Gln) c.3704G>A (p.Arg1235Gln) n.1279G>A c.3722G>A (p.Arg1241Gln) n.4095G>A n.822G>A c.2891G>A (p.Arg964Gln) c.2666G>A (p.Arg889Gln) c.3761G>A (p.Arg1254Gln) c.1734G>A c.*1057G>A (n.*1057G>A) n.4700G>A n.3301G>A c.3812G>A (p.Arg1271Gln) c.3860G>A (p.Arg1287Gln) c.3920G>A (p.Arg1307Gln) c.3470G>A (p.Arg1157Gln) c.1772G>A (p.Arg591Gln) c.1589G>A (p.Arg530Gln) c.3821G>A (p.Arg1274Gln) c.3773G>A (p.Arg1258Gln) c.3542G>A (p.Arg1181Gln) c.3443G>A (p.Arg1148Gln) c.2624G>A (p.Arg875Gln) n.4175G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51937342G>A | CA260148 | ATP7B | c.*1605C>T (n.*1605C>T) c.*2699C>T (n.*2699C>T) c.3334C>T (p.Arg1112Ter) c.3955C>T (p.Arg1319Ter) c.3622C>T (p.Arg1208Ter) c.3703C>T (p.Arg1235Ter) n.1278C>T c.3721C>T (p.Arg1241Ter) n.4094C>T n.821C>T c.2890C>T (p.Arg964Ter) c.2665C>T (p.Arg889Ter) c.3760C>T (p.Arg1254Ter) c.1733C>T c.*1056C>T (n.*1056C>T) n.4699C>T n.3300C>T c.3811C>T (p.Arg1271Ter) c.3859C>T (p.Arg1287Ter) c.3919C>T (p.Arg1307Ter) c.3469C>T (p.Arg1157Ter) c.1771C>T (p.Arg591Ter) c.1588C>T (p.Arg530Ter) c.3820C>T (p.Arg1274Ter) c.3772C>T (p.Arg1258Ter) c.3541C>T (p.Arg1181Ter) c.3442C>T (p.Arg1148Ter) c.2623C>T (p.Arg875Ter) n.4174C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.51937342G>C | CA388021090 | ATP7B | c.*1605C>G (n.*1605C>G) c.*2699C>G (n.*2699C>G) c.3334C>G (p.Arg1112Gly) c.3955C>G (p.Arg1319Gly) c.3622C>G (p.Arg1208Gly) c.3703C>G (p.Arg1235Gly) n.1278C>G c.3721C>G (p.Arg1241Gly) n.4094C>G n.821C>G c.2890C>G (p.Arg964Gly) c.2665C>G (p.Arg889Gly) c.3760C>G (p.Arg1254Gly) c.1733C>G c.*1056C>G (n.*1056C>G) n.4699C>G n.3300C>G c.3811C>G (p.Arg1271Gly) c.3859C>G (p.Arg1287Gly) c.3919C>G (p.Arg1307Gly) c.3469C>G (p.Arg1157Gly) c.1771C>G (p.Arg591Gly) c.1588C>G (p.Arg530Gly) c.3820C>G (p.Arg1274Gly) c.3772C>G (p.Arg1258Gly) c.3541C>G (p.Arg1181Gly) c.3442C>G (p.Arg1148Gly) c.2623C>G (p.Arg875Gly) n.4174C>G | ClinVar |
13 | g.51937342G= | CA2091553456 | ATP7B | c.*1605C= (n.*1605C=) c.*2699C= (n.*2699C=) c.3334C= (p.Arg1112=) c.3955C= (p.Arg1319=) c.3622C= (p.Arg1208=) c.3703C= (p.Arg1235=) n.1278C= c.3721C= (p.Arg1241=) n.4094C= n.821C= c.2890C= (p.Arg964=) c.2665C= (p.Arg889=) c.3760C= (p.Arg1254=) c.1733C= c.*1056C= (n.*1056C=) n.4699C= n.3300C= c.3811C= (p.Arg1271=) c.3859C= (p.Arg1287=) c.3919C= (p.Arg1307=) c.3469C= (p.Arg1157=) c.1771C= (p.Arg591=) c.1588C= (p.Arg530=) c.3820C= (p.Arg1274=) c.3772C= (p.Arg1258=) c.3541C= (p.Arg1181=) c.3442C= (p.Arg1148=) c.2623C= (p.Arg875=) n.4174C= | |
13 | g.51937342G>T | CA483893505 | ATP7B | c.*1605C>A (n.*1605C>A) c.*2699C>A (n.*2699C>A) c.3334C>A (p.Arg1112=) c.3955C>A (p.Arg1319=) c.3622C>A (p.Arg1208=) c.3703C>A (p.Arg1235=) n.1278C>A c.3721C>A (p.Arg1241=) n.4094C>A n.821C>A c.2890C>A (p.Arg964=) c.2665C>A (p.Arg889=) c.3760C>A (p.Arg1254=) c.1733C>A c.*1056C>A (n.*1056C>A) n.4699C>A n.3300C>A c.3811C>A (p.Arg1271=) c.3859C>A (p.Arg1287=) c.3919C>A (p.Arg1307=) c.3469C>A (p.Arg1157=) c.1771C>A (p.Arg591=) c.1588C>A (p.Arg530=) c.3820C>A (p.Arg1274=) c.3772C>A (p.Arg1258=) c.3541C>A (p.Arg1181=) c.3442C>A (p.Arg1148=) c.2623C>A (p.Arg875=) n.4174C>A | ClinVar |
13 | g.51937343G>A | CA483893506 | ATP7B | c.*1604C>T (n.*1604C>T) c.*2698C>T (n.*2698C>T) c.3333C>T (p.Val1111=) c.3954C>T (p.Val1318=) c.3621C>T (p.Val1207=) c.3702C>T (p.Val1234=) n.1277C>T c.3720C>T (p.Val1240=) n.4093C>T n.820C>T c.2889C>T (p.Val963=) c.2664C>T (p.Val888=) c.3759C>T (p.Val1253=) c.1732C>T c.*1055C>T (n.*1055C>T) n.4698C>T n.3299C>T c.3810C>T (p.Val1270=) c.3858C>T (p.Val1286=) c.3918C>T (p.Val1306=) c.3468C>T (p.Val1156=) c.1770C>T (p.Val590=) c.1587C>T (p.Val529=) c.3819C>T (p.Val1273=) c.3771C>T (p.Val1257=) c.3540C>T (p.Val1180=) c.3441C>T (p.Val1147=) c.2622C>T (p.Val874=) n.4173C>T | ClinVar |
13 | g.51937343G>C | CA483893507 | ATP7B | c.*1604C>G (n.*1604C>G) c.*2698C>G (n.*2698C>G) c.3333C>G (p.Val1111=) c.3954C>G (p.Val1318=) c.3621C>G (p.Val1207=) c.3702C>G (p.Val1234=) n.1277C>G c.3720C>G (p.Val1240=) n.4093C>G n.820C>G c.2889C>G (p.Val963=) c.2664C>G (p.Val888=) c.3759C>G (p.Val1253=) c.1732C>G c.*1055C>G (n.*1055C>G) n.4698C>G n.3299C>G c.3810C>G (p.Val1270=) c.3858C>G (p.Val1286=) c.3918C>G (p.Val1306=) c.3468C>G (p.Val1156=) c.1770C>G (p.Val590=) c.1587C>G (p.Val529=) c.3819C>G (p.Val1273=) c.3771C>G (p.Val1257=) c.3540C>G (p.Val1180=) c.3441C>G (p.Val1147=) c.2622C>G (p.Val874=) n.4173C>G | |
13 | g.51937343G>T | CA483893508 | ATP7B | c.*1604C>A (n.*1604C>A) c.*2698C>A (n.*2698C>A) c.3333C>A (p.Val1111=) c.3954C>A (p.Val1318=) c.3621C>A (p.Val1207=) c.3702C>A (p.Val1234=) n.1277C>A c.3720C>A (p.Val1240=) n.4093C>A n.820C>A c.2889C>A (p.Val963=) c.2664C>A (p.Val888=) c.3759C>A (p.Val1253=) c.1732C>A c.*1055C>A (n.*1055C>A) n.4698C>A n.3299C>A c.3810C>A (p.Val1270=) c.3858C>A (p.Val1286=) c.3918C>A (p.Val1306=) c.3468C>A (p.Val1156=) c.1770C>A (p.Val590=) c.1587C>A (p.Val529=) c.3819C>A (p.Val1273=) c.3771C>A (p.Val1257=) c.3540C>A (p.Val1180=) c.3441C>A (p.Val1147=) c.2622C>A (p.Val874=) n.4173C>A | ClinVar dbSNP |
13 | g.51937344A>C | CA388021091 | ATP7B | c.*1603T>G (n.*1603T>G) c.*2697T>G (n.*2697T>G) c.3332T>G (p.Val1111Gly) c.3953T>G (p.Val1318Gly) c.3620T>G (p.Val1207Gly) c.3701T>G (p.Val1234Gly) n.1276T>G c.3719T>G (p.Val1240Gly) n.4092T>G n.819T>G c.2888T>G (p.Val963Gly) c.2663T>G (p.Val888Gly) c.3758T>G (p.Val1253Gly) c.1731T>G c.*1054T>G (n.*1054T>G) n.4697T>G n.3298T>G c.3809T>G (p.Val1270Gly) c.3857T>G (p.Val1286Gly) c.3917T>G (p.Val1306Gly) c.3467T>G (p.Val1156Gly) c.1769T>G (p.Val590Gly) c.1586T>G (p.Val529Gly) c.3818T>G (p.Val1273Gly) c.3770T>G (p.Val1257Gly) c.3539T>G (p.Val1180Gly) c.3440T>G (p.Val1147Gly) c.2621T>G (p.Val874Gly) n.4172T>G | |
13 | g.51937344A>G | CA388021093 | ATP7B | c.*1603T>C (n.*1603T>C) c.*2697T>C (n.*2697T>C) c.3332T>C (p.Val1111Ala) c.3953T>C (p.Val1318Ala) c.3620T>C (p.Val1207Ala) c.3701T>C (p.Val1234Ala) n.1276T>C c.3719T>C (p.Val1240Ala) n.4092T>C n.819T>C c.2888T>C (p.Val963Ala) c.2663T>C (p.Val888Ala) c.3758T>C (p.Val1253Ala) c.1731T>C c.*1054T>C (n.*1054T>C) n.4697T>C n.3298T>C c.3809T>C (p.Val1270Ala) c.3857T>C (p.Val1286Ala) c.3917T>C (p.Val1306Ala) c.3467T>C (p.Val1156Ala) c.1769T>C (p.Val590Ala) c.1586T>C (p.Val529Ala) c.3818T>C (p.Val1273Ala) c.3770T>C (p.Val1257Ala) c.3539T>C (p.Val1180Ala) c.3440T>C (p.Val1147Ala) c.2621T>C (p.Val874Ala) n.4172T>C | gnomAD v4 |
13 | g.51937344A>T | CA388021095 | ATP7B | c.*1603T>A (n.*1603T>A) c.*2697T>A (n.*2697T>A) c.3332T>A (p.Val1111Asp) c.3953T>A (p.Val1318Asp) c.3620T>A (p.Val1207Asp) c.3701T>A (p.Val1234Asp) n.1276T>A c.3719T>A (p.Val1240Asp) n.4092T>A n.819T>A c.2888T>A (p.Val963Asp) c.2663T>A (p.Val888Asp) c.3758T>A (p.Val1253Asp) c.1731T>A c.*1054T>A (n.*1054T>A) n.4697T>A n.3298T>A c.3809T>A (p.Val1270Asp) c.3857T>A (p.Val1286Asp) c.3917T>A (p.Val1306Asp) c.3467T>A (p.Val1156Asp) c.1769T>A (p.Val590Asp) c.1586T>A (p.Val529Asp) c.3818T>A (p.Val1273Asp) c.3770T>A (p.Val1257Asp) c.3539T>A (p.Val1180Asp) c.3440T>A (p.Val1147Asp) c.2621T>A (p.Val874Asp) n.4172T>A | |
13 | g.51937345del | CA2575420456 | ATP7B | c.*1602del (n.*1602del) c.*2696del (n.*2696del) c.3331del (p.Val1111SerfsTer12) c.3952del (p.Val1318SerfsTer12) c.3619del (p.Val1207SerfsTer12) c.3700del (p.Val1234SerfsTer12) n.1275del c.3718del (p.Val1240SerfsTer12) n.4091del n.818del c.2887del (p.Val963SerfsTer12) c.2662del (p.Val888SerfsTer12) c.3757del (p.Val1253SerfsTer12) c.1730del c.*1053del (n.*1053del) n.4696del n.3297del c.3808del (p.Val1270SerfsTer12) c.3856del (p.Val1286SerfsTer12) c.3916del (p.Val1306SerfsTer12) c.3466del (p.Val1156SerfsTer12) c.1768del (p.Val590SerfsTer12) c.1585del (p.Val529SerfsTer12) c.3817del (p.Val1273SerfsTer12) c.3769del (p.Val1257SerfsTer12) c.3538del (p.Val1180SerfsTer12) c.3439del (p.Val1147SerfsTer12) c.2620del (p.Val874SerfsTer12) n.4171del | |
13 | g.51937345C>A | CA388021097 | ATP7B | c.*1602G>T (n.*1602G>T) c.*2696G>T (n.*2696G>T) c.3331G>T (p.Val1111Phe) c.3952G>T (p.Val1318Phe) c.3619G>T (p.Val1207Phe) c.3700G>T (p.Val1234Phe) n.1275G>T c.3718G>T (p.Val1240Phe) n.4091G>T n.818G>T c.2887G>T (p.Val963Phe) c.2662G>T (p.Val888Phe) c.3757G>T (p.Val1253Phe) c.1730G>T c.*1053G>T (n.*1053G>T) n.4696G>T n.3297G>T c.3808G>T (p.Val1270Phe) c.3856G>T (p.Val1286Phe) c.3916G>T (p.Val1306Phe) c.3466G>T (p.Val1156Phe) c.1768G>T (p.Val590Phe) c.1585G>T (p.Val529Phe) c.3817G>T (p.Val1273Phe) c.3769G>T (p.Val1257Phe) c.3538G>T (p.Val1180Phe) c.3439G>T (p.Val1147Phe) c.2620G>T (p.Val874Phe) n.4171G>T | |
13 | g.51937345C= | CA2091553459 | ATP7B | c.*1602G= (n.*1602G=) c.*2696G= (n.*2696G=) c.3331G= (p.Val1111=) c.3952G= (p.Val1318=) c.3619G= (p.Val1207=) c.3700G= (p.Val1234=) n.1275G= c.3718G= (p.Val1240=) n.4091G= n.818G= c.2887G= (p.Val963=) c.2662G= (p.Val888=) c.3757G= (p.Val1253=) c.1730G= c.*1053G= (n.*1053G=) n.4696G= n.3297G= c.3808G= (p.Val1270=) c.3856G= (p.Val1286=) c.3916G= (p.Val1306=) c.3466G= (p.Val1156=) c.1768G= (p.Val590=) c.1585G= (p.Val529=) c.3817G= (p.Val1273=) c.3769G= (p.Val1257=) c.3538G= (p.Val1180=) c.3439G= (p.Val1147=) c.2620G= (p.Val874=) n.4171G= | |
13 | g.51937345C>G | CA388021100 | ATP7B | c.*1602G>C (n.*1602G>C) c.*2696G>C (n.*2696G>C) c.3331G>C (p.Val1111Leu) c.3952G>C (p.Val1318Leu) c.3619G>C (p.Val1207Leu) c.3700G>C (p.Val1234Leu) n.1275G>C c.3718G>C (p.Val1240Leu) n.4091G>C n.818G>C c.2887G>C (p.Val963Leu) c.2662G>C (p.Val888Leu) c.3757G>C (p.Val1253Leu) c.1730G>C c.*1053G>C (n.*1053G>C) n.4696G>C n.3297G>C c.3808G>C (p.Val1270Leu) c.3856G>C (p.Val1286Leu) c.3916G>C (p.Val1306Leu) c.3466G>C (p.Val1156Leu) c.1768G>C (p.Val590Leu) c.1585G>C (p.Val529Leu) c.3817G>C (p.Val1273Leu) c.3769G>C (p.Val1257Leu) c.3538G>C (p.Val1180Leu) c.3439G>C (p.Val1147Leu) c.2620G>C (p.Val874Leu) n.4171G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937345C>T | CA388021103 | ATP7B | c.*1602G>A (n.*1602G>A) c.*2696G>A (n.*2696G>A) c.3331G>A (p.Val1111Ile) c.3952G>A (p.Val1318Ile) c.3619G>A (p.Val1207Ile) c.3700G>A (p.Val1234Ile) n.1275G>A c.3718G>A (p.Val1240Ile) n.4091G>A n.818G>A c.2887G>A (p.Val963Ile) c.2662G>A (p.Val888Ile) c.3757G>A (p.Val1253Ile) c.1730G>A c.*1053G>A (n.*1053G>A) n.4696G>A n.3297G>A c.3808G>A (p.Val1270Ile) c.3856G>A (p.Val1286Ile) c.3916G>A (p.Val1306Ile) c.3466G>A (p.Val1156Ile) c.1768G>A (p.Val590Ile) c.1585G>A (p.Val529Ile) c.3817G>A (p.Val1273Ile) c.3769G>A (p.Val1257Ile) c.3538G>A (p.Val1180Ile) c.3439G>A (p.Val1147Ile) c.2620G>A (p.Val874Ile) n.4171G>A | |
13 | g.51937346A= | CA2091553463 | ATP7B | c.*1601T= (n.*1601T=) c.*2695T= (n.*2695T=) c.3330T= (p.Thr1110=) c.3951T= (p.Thr1317=) c.3618T= (p.Thr1206=) c.3699T= (p.Thr1233=) n.1274T= c.3717T= (p.Thr1239=) n.4090T= n.817T= c.2886T= (p.Thr962=) c.2661T= (p.Thr887=) c.3756T= (p.Thr1252=) c.1729T= c.*1052T= (n.*1052T=) n.4695T= n.3296T= c.3807T= (p.Thr1269=) c.3855T= (p.Thr1285=) c.3915T= (p.Thr1305=) c.3465T= (p.Thr1155=) c.1767T= (p.Thr589=) c.1584T= (p.Thr528=) c.3816T= (p.Thr1272=) c.3768T= (p.Thr1256=) c.3537T= (p.Thr1179=) c.3438T= (p.Thr1146=) c.2619T= (p.Thr873=) n.4170T= | |
13 | g.51937346A>C | CA483893509 | ATP7B | c.*1601T>G (n.*1601T>G) c.*2695T>G (n.*2695T>G) c.3330T>G (p.Thr1110=) c.3951T>G (p.Thr1317=) c.3618T>G (p.Thr1206=) c.3699T>G (p.Thr1233=) n.1274T>G c.3717T>G (p.Thr1239=) n.4090T>G n.817T>G c.2886T>G (p.Thr962=) c.2661T>G (p.Thr887=) c.3756T>G (p.Thr1252=) c.1729T>G c.*1052T>G (n.*1052T>G) n.4695T>G n.3296T>G c.3807T>G (p.Thr1269=) c.3855T>G (p.Thr1285=) c.3915T>G (p.Thr1305=) c.3465T>G (p.Thr1155=) c.1767T>G (p.Thr589=) c.1584T>G (p.Thr528=) c.3816T>G (p.Thr1272=) c.3768T>G (p.Thr1256=) c.3537T>G (p.Thr1179=) c.3438T>G (p.Thr1146=) c.2619T>G (p.Thr873=) n.4170T>G | |
13 | g.51937346A>G | CA6988530 | ATP7B | c.*1601T>C (n.*1601T>C) c.*2695T>C (n.*2695T>C) c.3330T>C (p.Thr1110=) c.3951T>C (p.Thr1317=) c.3618T>C (p.Thr1206=) c.3699T>C (p.Thr1233=) n.1274T>C c.3717T>C (p.Thr1239=) n.4090T>C n.817T>C c.2886T>C (p.Thr962=) c.2661T>C (p.Thr887=) c.3756T>C (p.Thr1252=) c.1729T>C c.*1052T>C (n.*1052T>C) n.4695T>C n.3296T>C c.3807T>C (p.Thr1269=) c.3855T>C (p.Thr1285=) c.3915T>C (p.Thr1305=) c.3465T>C (p.Thr1155=) c.1767T>C (p.Thr589=) c.1584T>C (p.Thr528=) c.3816T>C (p.Thr1272=) c.3768T>C (p.Thr1256=) c.3537T>C (p.Thr1179=) c.3438T>C (p.Thr1146=) c.2619T>C (p.Thr873=) n.4170T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937346A>T | CA483893510 | ATP7B | c.*1601T>A (n.*1601T>A) c.*2695T>A (n.*2695T>A) c.3330T>A (p.Thr1110=) c.3951T>A (p.Thr1317=) c.3618T>A (p.Thr1206=) c.3699T>A (p.Thr1233=) n.1274T>A c.3717T>A (p.Thr1239=) n.4090T>A n.817T>A c.2886T>A (p.Thr962=) c.2661T>A (p.Thr887=) c.3756T>A (p.Thr1252=) c.1729T>A c.*1052T>A (n.*1052T>A) n.4695T>A n.3296T>A c.3807T>A (p.Thr1269=) c.3855T>A (p.Thr1285=) c.3915T>A (p.Thr1305=) c.3465T>A (p.Thr1155=) c.1767T>A (p.Thr589=) c.1584T>A (p.Thr528=) c.3816T>A (p.Thr1272=) c.3768T>A (p.Thr1256=) c.3537T>A (p.Thr1179=) c.3438T>A (p.Thr1146=) c.2619T>A (p.Thr873=) n.4170T>A | |
13 | g.51937347G>A | CA388021106 | ATP7B | c.*1600C>T (n.*1600C>T) c.*2694C>T (n.*2694C>T) c.3329C>T (p.Thr1110Ile) c.3950C>T (p.Thr1317Ile) c.3617C>T (p.Thr1206Ile) c.3698C>T (p.Thr1233Ile) n.1273C>T c.3716C>T (p.Thr1239Ile) n.4089C>T n.816C>T c.2885C>T (p.Thr962Ile) c.2660C>T (p.Thr887Ile) c.3755C>T (p.Thr1252Ile) c.1728C>T c.*1051C>T (n.*1051C>T) n.4694C>T n.3295C>T c.3806C>T (p.Thr1269Ile) c.3854C>T (p.Thr1285Ile) c.3914C>T (p.Thr1305Ile) c.3464C>T (p.Thr1155Ile) c.1766C>T (p.Thr589Ile) c.1583C>T (p.Thr528Ile) c.3815C>T (p.Thr1272Ile) c.3767C>T (p.Thr1256Ile) c.3536C>T (p.Thr1179Ile) c.3437C>T (p.Thr1146Ile) c.2618C>T (p.Thr873Ile) n.4169C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937347G>C | CA388021109 | ATP7B | c.*1600C>G (n.*1600C>G) c.*2694C>G (n.*2694C>G) c.3329C>G (p.Thr1110Ser) c.3950C>G (p.Thr1317Ser) c.3617C>G (p.Thr1206Ser) c.3698C>G (p.Thr1233Ser) n.1273C>G c.3716C>G (p.Thr1239Ser) n.4089C>G n.816C>G c.2885C>G (p.Thr962Ser) c.2660C>G (p.Thr887Ser) c.3755C>G (p.Thr1252Ser) c.1728C>G c.*1051C>G (n.*1051C>G) n.4694C>G n.3295C>G c.3806C>G (p.Thr1269Ser) c.3854C>G (p.Thr1285Ser) c.3914C>G (p.Thr1305Ser) c.3464C>G (p.Thr1155Ser) c.1766C>G (p.Thr589Ser) c.1583C>G (p.Thr528Ser) c.3815C>G (p.Thr1272Ser) c.3767C>G (p.Thr1256Ser) c.3536C>G (p.Thr1179Ser) c.3437C>G (p.Thr1146Ser) c.2618C>G (p.Thr873Ser) n.4169C>G | |
13 | g.51937347G= | CA2091553465 | ATP7B | c.*1600C= (n.*1600C=) c.*2694C= (n.*2694C=) c.3329C= (p.Thr1110=) c.3950C= (p.Thr1317=) c.3617C= (p.Thr1206=) c.3698C= (p.Thr1233=) n.1273C= c.3716C= (p.Thr1239=) n.4089C= n.816C= c.2885C= (p.Thr962=) c.2660C= (p.Thr887=) c.3755C= (p.Thr1252=) c.1728C= c.*1051C= (n.*1051C=) n.4694C= n.3295C= c.3806C= (p.Thr1269=) c.3854C= (p.Thr1285=) c.3914C= (p.Thr1305=) c.3464C= (p.Thr1155=) c.1766C= (p.Thr589=) c.1583C= (p.Thr528=) c.3815C= (p.Thr1272=) c.3767C= (p.Thr1256=) c.3536C= (p.Thr1179=) c.3437C= (p.Thr1146=) c.2618C= (p.Thr873=) n.4169C= | |
13 | g.51937347G>T | CA388021112 | ATP7B | c.*1600C>A (n.*1600C>A) c.*2694C>A (n.*2694C>A) c.3329C>A (p.Thr1110Asn) c.3950C>A (p.Thr1317Asn) c.3617C>A (p.Thr1206Asn) c.3698C>A (p.Thr1233Asn) n.1273C>A c.3716C>A (p.Thr1239Asn) n.4089C>A n.816C>A c.2885C>A (p.Thr962Asn) c.2660C>A (p.Thr887Asn) c.3755C>A (p.Thr1252Asn) c.1728C>A c.*1051C>A (n.*1051C>A) n.4694C>A n.3295C>A c.3806C>A (p.Thr1269Asn) c.3854C>A (p.Thr1285Asn) c.3914C>A (p.Thr1305Asn) c.3464C>A (p.Thr1155Asn) c.1766C>A (p.Thr589Asn) c.1583C>A (p.Thr528Asn) c.3815C>A (p.Thr1272Asn) c.3767C>A (p.Thr1256Asn) c.3536C>A (p.Thr1179Asn) c.3437C>A (p.Thr1146Asn) c.2618C>A (p.Thr873Asn) n.4169C>A | |
13 | g.51937348T>A | CA388021116 | ATP7B | c.*1599A>T (n.*1599A>T) c.*2693A>T (n.*2693A>T) c.3328A>T (p.Thr1110Ser) c.3949A>T (p.Thr1317Ser) c.3616A>T (p.Thr1206Ser) c.3697A>T (p.Thr1233Ser) n.1272A>T c.3715A>T (p.Thr1239Ser) n.4088A>T n.815A>T c.2884A>T (p.Thr962Ser) c.2659A>T (p.Thr887Ser) c.3754A>T (p.Thr1252Ser) c.1727A>T c.*1050A>T (n.*1050A>T) n.4693A>T n.3294A>T c.3805A>T (p.Thr1269Ser) c.3853A>T (p.Thr1285Ser) c.3913A>T (p.Thr1305Ser) c.3463A>T (p.Thr1155Ser) c.1765A>T (p.Thr589Ser) c.1582A>T (p.Thr528Ser) c.3814A>T (p.Thr1272Ser) c.3766A>T (p.Thr1256Ser) c.3535A>T (p.Thr1179Ser) c.3436A>T (p.Thr1146Ser) c.2617A>T (p.Thr873Ser) n.4168A>T | |
13 | g.51937348T>C | CA6988531 | ATP7B | c.*1599A>G (n.*1599A>G) c.*2693A>G (n.*2693A>G) c.3328A>G (p.Thr1110Ala) c.3949A>G (p.Thr1317Ala) c.3616A>G (p.Thr1206Ala) c.3697A>G (p.Thr1233Ala) n.1272A>G c.3715A>G (p.Thr1239Ala) n.4088A>G n.815A>G c.2884A>G (p.Thr962Ala) c.2659A>G (p.Thr887Ala) c.3754A>G (p.Thr1252Ala) c.1727A>G c.*1050A>G (n.*1050A>G) n.4693A>G n.3294A>G c.3805A>G (p.Thr1269Ala) c.3853A>G (p.Thr1285Ala) c.3913A>G (p.Thr1305Ala) c.3463A>G (p.Thr1155Ala) c.1765A>G (p.Thr589Ala) c.1582A>G (p.Thr528Ala) c.3814A>G (p.Thr1272Ala) c.3766A>G (p.Thr1256Ala) c.3535A>G (p.Thr1179Ala) c.3436A>G (p.Thr1146Ala) c.2617A>G (p.Thr873Ala) n.4168A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937348T>G | CA388021115 | ATP7B | c.*1599A>C (n.*1599A>C) c.*2693A>C (n.*2693A>C) c.3328A>C (p.Thr1110Pro) c.3949A>C (p.Thr1317Pro) c.3616A>C (p.Thr1206Pro) c.3697A>C (p.Thr1233Pro) n.1272A>C c.3715A>C (p.Thr1239Pro) n.4088A>C n.815A>C c.2884A>C (p.Thr962Pro) c.2659A>C (p.Thr887Pro) c.3754A>C (p.Thr1252Pro) c.1727A>C c.*1050A>C (n.*1050A>C) n.4693A>C n.3294A>C c.3805A>C (p.Thr1269Pro) c.3853A>C (p.Thr1285Pro) c.3913A>C (p.Thr1305Pro) c.3463A>C (p.Thr1155Pro) c.1765A>C (p.Thr589Pro) c.1582A>C (p.Thr528Pro) c.3814A>C (p.Thr1272Pro) c.3766A>C (p.Thr1256Pro) c.3535A>C (p.Thr1179Pro) c.3436A>C (p.Thr1146Pro) c.2617A>C (p.Thr873Pro) n.4168A>C | |
13 | g.51937348T= | CA2091553469 | ATP7B | c.*1599A= (n.*1599A=) c.*2693A= (n.*2693A=) c.3328A= (p.Thr1110=) c.3949A= (p.Thr1317=) c.3616A= (p.Thr1206=) c.3697A= (p.Thr1233=) n.1272A= c.3715A= (p.Thr1239=) n.4088A= n.815A= c.2884A= (p.Thr962=) c.2659A= (p.Thr887=) c.3754A= (p.Thr1252=) c.1727A= c.*1050A= (n.*1050A=) n.4693A= n.3294A= c.3805A= (p.Thr1269=) c.3853A= (p.Thr1285=) c.3913A= (p.Thr1305=) c.3463A= (p.Thr1155=) c.1765A= (p.Thr589=) c.1582A= (p.Thr528=) c.3814A= (p.Thr1272=) c.3766A= (p.Thr1256=) c.3535A= (p.Thr1179=) c.3436A= (p.Thr1146=) c.2617A= (p.Thr873=) n.4168A= | |
13 | g.51937348_51937349delinsTC | CA2091553470 | ATP7B | c.*1598_*1599delinsGA (n.*1598_*1599delinsGA) c.*2692_*2693delinsGA (n.*2692_*2693delinsGA) c.3327_3328delinsGA (p.Arg1109=) c.3948_3949delinsGA (p.Arg1316=) c.3615_3616delinsGA (p.Arg1205=) c.3696_3697delinsGA (p.Arg1232=) n.1271_1272delinsGA c.3714_3715delinsGA (p.Arg1238=) n.4087_4088delinsGA n.814_815delinsGA c.2883_2884delinsGA (p.Arg961=) c.2658_2659delinsGA (p.Arg886=) c.3753_3754delinsGA (p.Arg1251=) c.1726_1727delinsGA c.*1049_*1050delinsGA (n.*1049_*1050delinsGA) n.4692_4693delinsGA n.3293_3294delinsGA c.3804_3805delinsGA (p.Arg1268=) c.3852_3853delinsGA (p.Arg1284=) c.3912_3913delinsGA (p.Arg1304=) c.3462_3463delinsGA (p.Arg1154=) c.1764_1765delinsGA (p.Arg588=) c.1581_1582delinsGA (p.Arg527=) c.3813_3814delinsGA (p.Arg1271=) c.3765_3766delinsGA (p.Arg1255=) c.3534_3535delinsGA (p.Arg1178=) c.3435_3436delinsGA (p.Arg1145=) c.2616_2617delinsGA (p.Arg872=) n.4167_4168delinsGA | |
13 | g.51937349C>A | CA388021117 | ATP7B | c.*1598G>T (n.*1598G>T) c.*2692G>T (n.*2692G>T) c.3327G>T (p.Arg1109Ser) c.3948G>T (p.Arg1316Ser) c.3615G>T (p.Arg1205Ser) c.3696G>T (p.Arg1232Ser) n.1271G>T c.3714G>T (p.Arg1238Ser) n.4087G>T n.814G>T c.2883G>T (p.Arg961Ser) c.2658G>T (p.Arg886Ser) c.3753G>T (p.Arg1251Ser) c.1726G>T c.*1049G>T (n.*1049G>T) n.4692G>T n.3293G>T c.3804G>T (p.Arg1268Ser) c.3852G>T (p.Arg1284Ser) c.3912G>T (p.Arg1304Ser) c.3462G>T (p.Arg1154Ser) c.1764G>T (p.Arg588Ser) c.1581G>T (p.Arg527Ser) c.3813G>T (p.Arg1271Ser) c.3765G>T (p.Arg1255Ser) c.3534G>T (p.Arg1178Ser) c.3435G>T (p.Arg1145Ser) c.2616G>T (p.Arg872Ser) n.4167G>T | |
13 | g.51937349C>G | CA388021118 | ATP7B | c.*1598G>C (n.*1598G>C) c.*2692G>C (n.*2692G>C) c.3327G>C (p.Arg1109Ser) c.3948G>C (p.Arg1316Ser) c.3615G>C (p.Arg1205Ser) c.3696G>C (p.Arg1232Ser) n.1271G>C c.3714G>C (p.Arg1238Ser) n.4087G>C n.814G>C c.2883G>C (p.Arg961Ser) c.2658G>C (p.Arg886Ser) c.3753G>C (p.Arg1251Ser) c.1726G>C c.*1049G>C (n.*1049G>C) n.4692G>C n.3293G>C c.3804G>C (p.Arg1268Ser) c.3852G>C (p.Arg1284Ser) c.3912G>C (p.Arg1304Ser) c.3462G>C (p.Arg1154Ser) c.1764G>C (p.Arg588Ser) c.1581G>C (p.Arg527Ser) c.3813G>C (p.Arg1271Ser) c.3765G>C (p.Arg1255Ser) c.3534G>C (p.Arg1178Ser) c.3435G>C (p.Arg1145Ser) c.2616G>C (p.Arg872Ser) n.4167G>C | |
13 | g.51937349C>T | CA484024237 | ATP7B | c.*1598G>A (n.*1598G>A) c.*2692G>A (n.*2692G>A) c.3327G>A (p.Arg1109=) c.3948G>A (p.Arg1316=) c.3615G>A (p.Arg1205=) c.3696G>A (p.Arg1232=) n.1271G>A c.3714G>A (p.Arg1238=) n.4087G>A n.814G>A c.2883G>A (p.Arg961=) c.2658G>A (p.Arg886=) c.3753G>A (p.Arg1251=) c.1726G>A c.*1049G>A (n.*1049G>A) n.4692G>A n.3293G>A c.3804G>A (p.Arg1268=) c.3852G>A (p.Arg1284=) c.3912G>A (p.Arg1304=) c.3462G>A (p.Arg1154=) c.1764G>A (p.Arg588=) c.1581G>A (p.Arg527=) c.3813G>A (p.Arg1271=) c.3765G>A (p.Arg1255=) c.3534G>A (p.Arg1178=) c.3435G>A (p.Arg1145=) c.2616G>A (p.Arg872=) n.4167G>A | |
13 | g.51937350del | CA16041661 | ATP7B | c.*1598del (n.*1598del) c.*2692del (n.*2692del) c.3327del (p.Thr1110LeufsTer13) c.3948del (p.Thr1317LeufsTer13) c.3615del (p.Thr1206LeufsTer13) c.3696del (p.Thr1233LeufsTer13) n.1271del c.3714del (p.Thr1239LeufsTer13) n.4087del n.814del c.2883del (p.Thr962LeufsTer13) c.2658del (p.Thr887LeufsTer13) c.3753del (p.Thr1252LeufsTer13) c.1726del c.*1049del (n.*1049del) n.4692del n.3293del c.3804del (p.Thr1269LeufsTer13) c.3852del (p.Thr1285LeufsTer13) c.3912del (p.Thr1305LeufsTer13) c.3462del (p.Thr1155LeufsTer13) c.1764del (p.Thr589LeufsTer13) c.1581del (p.Thr528LeufsTer13) c.3813del (p.Thr1272LeufsTer13) c.3765del (p.Thr1256LeufsTer13) c.3534del (p.Thr1179LeufsTer13) c.3435del (p.Thr1146LeufsTer13) c.2616del (p.Thr873LeufsTer13) n.4167del | ClinVar dbSNP gnomAD v4 |
13 | g.51937350C>A | CA388021119 | ATP7B | c.*1597G>T (n.*1597G>T) c.*2691G>T (n.*2691G>T) c.3326G>T (p.Arg1109Met) c.3947G>T (p.Arg1316Met) c.3614G>T (p.Arg1205Met) c.3695G>T (p.Arg1232Met) n.1270G>T c.3713G>T (p.Arg1238Met) n.4086G>T n.813G>T c.2882G>T (p.Arg961Met) c.2657G>T (p.Arg886Met) c.3752G>T (p.Arg1251Met) c.1725G>T c.*1048G>T (n.*1048G>T) n.4691G>T n.3292G>T c.3803G>T (p.Arg1268Met) c.3851G>T (p.Arg1284Met) c.3911G>T (p.Arg1304Met) c.3461G>T (p.Arg1154Met) c.1763G>T (p.Arg588Met) c.1580G>T (p.Arg527Met) c.3812G>T (p.Arg1271Met) c.3764G>T (p.Arg1255Met) c.3533G>T (p.Arg1178Met) c.3434G>T (p.Arg1145Met) c.2615G>T (p.Arg872Met) n.4166G>T | |
13 | g.51937350C= | CA2091553479 | ATP7B | c.*1597G= (n.*1597G=) c.*2691G= (n.*2691G=) c.3326G= (p.Arg1109=) c.3947G= (p.Arg1316=) c.3614G= (p.Arg1205=) c.3695G= (p.Arg1232=) n.1270G= c.3713G= (p.Arg1238=) n.4086G= n.813G= c.2882G= (p.Arg961=) c.2657G= (p.Arg886=) c.3752G= (p.Arg1251=) c.1725G= c.*1048G= (n.*1048G=) n.4691G= n.3292G= c.3803G= (p.Arg1268=) c.3851G= (p.Arg1284=) c.3911G= (p.Arg1304=) c.3461G= (p.Arg1154=) c.1763G= (p.Arg588=) c.1580G= (p.Arg527=) c.3812G= (p.Arg1271=) c.3764G= (p.Arg1255=) c.3533G= (p.Arg1178=) c.3434G= (p.Arg1145=) c.2615G= (p.Arg872=) n.4166G= | |
13 | g.51937350C>G | CA388021121 | ATP7B | c.*1597G>C (n.*1597G>C) c.*2691G>C (n.*2691G>C) c.3326G>C (p.Arg1109Thr) c.3947G>C (p.Arg1316Thr) c.3614G>C (p.Arg1205Thr) c.3695G>C (p.Arg1232Thr) n.1270G>C c.3713G>C (p.Arg1238Thr) n.4086G>C n.813G>C c.2882G>C (p.Arg961Thr) c.2657G>C (p.Arg886Thr) c.3752G>C (p.Arg1251Thr) c.1725G>C c.*1048G>C (n.*1048G>C) n.4691G>C n.3292G>C c.3803G>C (p.Arg1268Thr) c.3851G>C (p.Arg1284Thr) c.3911G>C (p.Arg1304Thr) c.3461G>C (p.Arg1154Thr) c.1763G>C (p.Arg588Thr) c.1580G>C (p.Arg527Thr) c.3812G>C (p.Arg1271Thr) c.3764G>C (p.Arg1255Thr) c.3533G>C (p.Arg1178Thr) c.3434G>C (p.Arg1145Thr) c.2615G>C (p.Arg872Thr) n.4166G>C | |
13 | g.51937350C>T | CA388021122 | ATP7B | c.*1597G>A (n.*1597G>A) c.*2691G>A (n.*2691G>A) c.3326G>A (p.Arg1109Lys) c.3947G>A (p.Arg1316Lys) c.3614G>A (p.Arg1205Lys) c.3695G>A (p.Arg1232Lys) n.1270G>A c.3713G>A (p.Arg1238Lys) n.4086G>A n.813G>A c.2882G>A (p.Arg961Lys) c.2657G>A (p.Arg886Lys) c.3752G>A (p.Arg1251Lys) c.1725G>A c.*1048G>A (n.*1048G>A) n.4691G>A n.3292G>A c.3803G>A (p.Arg1268Lys) c.3851G>A (p.Arg1284Lys) c.3911G>A (p.Arg1304Lys) c.3461G>A (p.Arg1154Lys) c.1763G>A (p.Arg588Lys) c.1580G>A (p.Arg527Lys) c.3812G>A (p.Arg1271Lys) c.3764G>A (p.Arg1255Lys) c.3533G>A (p.Arg1178Lys) c.3434G>A (p.Arg1145Lys) c.2615G>A (p.Arg872Lys) n.4166G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937350_51937355delinsTCT | CA2499222484 | ATP7B | c.*1592_*1597delinsAGA (n.*1592_*1597delinsAGA) c.*2686_*2691delinsAGA (n.*2686_*2691delinsAGA) c.3321_3326delinsAGA (p.Lys1108_Arg1109delinsGlu) c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) c.3609_3614delinsAGA (p.Lys1204_Arg1205delinsGlu) c.3690_3695delinsAGA (p.Lys1231_Arg1232delinsGlu) n.1265_1270delinsAGA c.3708_3713delinsAGA (p.Lys1237_Arg1238delinsGlu) n.4081_4086delinsAGA n.808_813delinsAGA c.2877_2882delinsAGA (p.Lys960_Arg961delinsGlu) c.2652_2657delinsAGA (p.Lys885_Arg886delinsGlu) c.3747_3752delinsAGA (p.Lys1250_Arg1251delinsGlu) c.1720_1725delinsAGA c.*1043_*1048delinsAGA (n.*1043_*1048delinsAGA) n.4686_4691delinsAGA n.3287_3292delinsAGA c.3798_3803delinsAGA (p.Lys1267_Arg1268delinsGlu) c.3846_3851delinsAGA (p.Lys1283_Arg1284delinsGlu) c.3906_3911delinsAGA (p.Lys1303_Arg1304delinsGlu) c.3456_3461delinsAGA (p.Lys1153_Arg1154delinsGlu) c.1758_1763delinsAGA (p.Lys587_Arg588delinsGlu) c.1575_1580delinsAGA (p.Lys526_Arg527delinsGlu) c.3807_3812delinsAGA (p.Lys1270_Arg1271delinsGlu) c.3759_3764delinsAGA (p.Lys1254_Arg1255delinsGlu) c.3528_3533delinsAGA (p.Lys1177_Arg1178delinsGlu) c.3429_3434delinsAGA (p.Lys1144_Arg1145delinsGlu) c.2610_2615delinsAGA (p.Lys871_Arg872delinsGlu) n.4161_4166delinsAGA | ClinVar dbSNP |
13 | g.51937351T>A | CA388021124 | ATP7B | c.*1596A>T (n.*1596A>T) c.*2690A>T (n.*2690A>T) c.3325A>T (p.Arg1109Trp) c.3946A>T (p.Arg1316Trp) c.3613A>T (p.Arg1205Trp) c.3694A>T (p.Arg1232Trp) n.1269A>T c.3712A>T (p.Arg1238Trp) n.4085A>T n.812A>T c.2881A>T (p.Arg961Trp) c.2656A>T (p.Arg886Trp) c.3751A>T (p.Arg1251Trp) c.1724A>T c.*1047A>T (n.*1047A>T) n.4690A>T n.3291A>T c.3802A>T (p.Arg1268Trp) c.3850A>T (p.Arg1284Trp) c.3910A>T (p.Arg1304Trp) c.3460A>T (p.Arg1154Trp) c.1762A>T (p.Arg588Trp) c.1579A>T (p.Arg527Trp) c.3811A>T (p.Arg1271Trp) c.3763A>T (p.Arg1255Trp) c.3532A>T (p.Arg1178Trp) c.3433A>T (p.Arg1145Trp) c.2614A>T (p.Arg872Trp) n.4165A>T | |
13 | g.51937351T>C | CA388021125 | ATP7B | c.*1596A>G (n.*1596A>G) c.*2690A>G (n.*2690A>G) c.3325A>G (p.Arg1109Gly) c.3946A>G (p.Arg1316Gly) c.3613A>G (p.Arg1205Gly) c.3694A>G (p.Arg1232Gly) n.1269A>G c.3712A>G (p.Arg1238Gly) n.4085A>G n.812A>G c.2881A>G (p.Arg961Gly) c.2656A>G (p.Arg886Gly) c.3751A>G (p.Arg1251Gly) c.1724A>G c.*1047A>G (n.*1047A>G) n.4690A>G n.3291A>G c.3802A>G (p.Arg1268Gly) c.3850A>G (p.Arg1284Gly) c.3910A>G (p.Arg1304Gly) c.3460A>G (p.Arg1154Gly) c.1762A>G (p.Arg588Gly) c.1579A>G (p.Arg527Gly) c.3811A>G (p.Arg1271Gly) c.3763A>G (p.Arg1255Gly) c.3532A>G (p.Arg1178Gly) c.3433A>G (p.Arg1145Gly) c.2614A>G (p.Arg872Gly) n.4165A>G | |
13 | g.51937351T>G | CA484024238 | ATP7B | c.*1596A>C (n.*1596A>C) c.*2690A>C (n.*2690A>C) c.3325A>C (p.Arg1109=) c.3946A>C (p.Arg1316=) c.3613A>C (p.Arg1205=) c.3694A>C (p.Arg1232=) n.1269A>C c.3712A>C (p.Arg1238=) n.4085A>C n.812A>C c.2881A>C (p.Arg961=) c.2656A>C (p.Arg886=) c.3751A>C (p.Arg1251=) c.1724A>C c.*1047A>C (n.*1047A>C) n.4690A>C n.3291A>C c.3802A>C (p.Arg1268=) c.3850A>C (p.Arg1284=) c.3910A>C (p.Arg1304=) c.3460A>C (p.Arg1154=) c.1762A>C (p.Arg588=) c.1579A>C (p.Arg527=) c.3811A>C (p.Arg1271=) c.3763A>C (p.Arg1255=) c.3532A>C (p.Arg1178=) c.3433A>C (p.Arg1145=) c.2614A>C (p.Arg872=) n.4165A>C | |
13 | g.51937352C>A | CA388021127 | ATP7B | c.*1595G>T (n.*1595G>T) c.*2689G>T (n.*2689G>T) c.3324G>T (p.Lys1108Asn) c.3945G>T (p.Lys1315Asn) c.3612G>T (p.Lys1204Asn) c.3693G>T (p.Lys1231Asn) n.1268G>T c.3711G>T (p.Lys1237Asn) n.4084G>T n.811G>T c.2880G>T (p.Lys960Asn) c.2655G>T (p.Lys885Asn) c.3750G>T (p.Lys1250Asn) c.1723G>T c.*1046G>T (n.*1046G>T) n.4689G>T n.3290G>T c.3801G>T (p.Lys1267Asn) c.3849G>T (p.Lys1283Asn) c.3909G>T (p.Lys1303Asn) c.3459G>T (p.Lys1153Asn) c.1761G>T (p.Lys587Asn) c.1578G>T (p.Lys526Asn) c.3810G>T (p.Lys1270Asn) c.3762G>T (p.Lys1254Asn) c.3531G>T (p.Lys1177Asn) c.3432G>T (p.Lys1144Asn) c.2613G>T (p.Lys871Asn) n.4164G>T | |
13 | g.51937352C= | CA2091553482 | ATP7B | c.*1595G= (n.*1595G=) c.*2689G= (n.*2689G=) c.3324G= (p.Lys1108=) c.3945G= (p.Lys1315=) c.3612G= (p.Lys1204=) c.3693G= (p.Lys1231=) n.1268G= c.3711G= (p.Lys1237=) n.4084G= n.811G= c.2880G= (p.Lys960=) c.2655G= (p.Lys885=) c.3750G= (p.Lys1250=) c.1723G= c.*1046G= (n.*1046G=) n.4689G= n.3290G= c.3801G= (p.Lys1267=) c.3849G= (p.Lys1283=) c.3909G= (p.Lys1303=) c.3459G= (p.Lys1153=) c.1761G= (p.Lys587=) c.1578G= (p.Lys526=) c.3810G= (p.Lys1270=) c.3762G= (p.Lys1254=) c.3531G= (p.Lys1177=) c.3432G= (p.Lys1144=) c.2613G= (p.Lys871=) n.4164G= | |
13 | g.51937352C>G | CA388021129 | ATP7B | c.*1595G>C (n.*1595G>C) c.*2689G>C (n.*2689G>C) c.3324G>C (p.Lys1108Asn) c.3945G>C (p.Lys1315Asn) c.3612G>C (p.Lys1204Asn) c.3693G>C (p.Lys1231Asn) n.1268G>C c.3711G>C (p.Lys1237Asn) n.4084G>C n.811G>C c.2880G>C (p.Lys960Asn) c.2655G>C (p.Lys885Asn) c.3750G>C (p.Lys1250Asn) c.1723G>C c.*1046G>C (n.*1046G>C) n.4689G>C n.3290G>C c.3801G>C (p.Lys1267Asn) c.3849G>C (p.Lys1283Asn) c.3909G>C (p.Lys1303Asn) c.3459G>C (p.Lys1153Asn) c.1761G>C (p.Lys587Asn) c.1578G>C (p.Lys526Asn) c.3810G>C (p.Lys1270Asn) c.3762G>C (p.Lys1254Asn) c.3531G>C (p.Lys1177Asn) c.3432G>C (p.Lys1144Asn) c.2613G>C (p.Lys871Asn) n.4164G>C | |
13 | g.51937352C>T | CA484024239 | ATP7B | c.*1595G>A (n.*1595G>A) c.*2689G>A (n.*2689G>A) c.3324G>A (p.Lys1108=) c.3945G>A (p.Lys1315=) c.3612G>A (p.Lys1204=) c.3693G>A (p.Lys1231=) n.1268G>A c.3711G>A (p.Lys1237=) n.4084G>A n.811G>A c.2880G>A (p.Lys960=) c.2655G>A (p.Lys885=) c.3750G>A (p.Lys1250=) c.1723G>A c.*1046G>A (n.*1046G>A) n.4689G>A n.3290G>A c.3801G>A (p.Lys1267=) c.3849G>A (p.Lys1283=) c.3909G>A (p.Lys1303=) c.3459G>A (p.Lys1153=) c.1761G>A (p.Lys587=) c.1578G>A (p.Lys526=) c.3810G>A (p.Lys1270=) c.3762G>A (p.Lys1254=) c.3531G>A (p.Lys1177=) c.3432G>A (p.Lys1144=) c.2613G>A (p.Lys871=) n.4164G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937354_51937369del | CA2623119065 | ATP7B | c.*1580_*1595del (n.*1580_*1595del) c.*2674_*2689del (n.*2674_*2689del) c.3309_3324del (p.Ser1103ArgfsTer15) c.3930_3945del (p.Ser1310ArgfsTer15) c.3597_3612del (p.Ser1199ArgfsTer15) c.3678_3693del (p.Ser1226ArgfsTer15) n.1253_1268del c.3696_3711del (p.Ser1232ArgfsTer15) n.4069_4084del n.796_811del c.2865_2880del (p.Ser955ArgfsTer15) c.2640_2655del (p.Ser880ArgfsTer15) c.3735_3750del (p.Ser1245ArgfsTer15) c.1708_1723del c.*1031_*1046del (n.*1031_*1046del) n.4674_4689del n.3275_3290del c.3786_3801del (p.Ser1262ArgfsTer15) c.3834_3849del (p.Ser1278ArgfsTer15) c.3894_3909del (p.Ser1298ArgfsTer15) c.3444_3459del (p.Ser1148ArgfsTer15) c.1746_1761del (p.Ser582ArgfsTer15) c.1563_1578del (p.Ser521ArgfsTer15) c.3795_3810del (p.Ser1265ArgfsTer15) c.3747_3762del (p.Ser1249ArgfsTer15) c.3516_3531del (p.Ser1172ArgfsTer15) c.3417_3432del (p.Ser1139ArgfsTer15) c.2598_2613del (p.Ser866ArgfsTer15) n.4149_4164del | gnomAD v4 |
13 | g.51937353T>A | CA388021131 | ATP7B | c.*1594A>T (n.*1594A>T) c.*2688A>T (n.*2688A>T) c.3323A>T (p.Lys1108Met) c.3944A>T (p.Lys1315Met) c.3611A>T (p.Lys1204Met) c.3692A>T (p.Lys1231Met) n.1267A>T c.3710A>T (p.Lys1237Met) n.4083A>T n.810A>T c.2879A>T (p.Lys960Met) c.2654A>T (p.Lys885Met) c.3749A>T (p.Lys1250Met) c.1722A>T c.*1045A>T (n.*1045A>T) n.4688A>T n.3289A>T c.3800A>T (p.Lys1267Met) c.3848A>T (p.Lys1283Met) c.3908A>T (p.Lys1303Met) c.3458A>T (p.Lys1153Met) c.1760A>T (p.Lys587Met) c.1577A>T (p.Lys526Met) c.3809A>T (p.Lys1270Met) c.3761A>T (p.Lys1254Met) c.3530A>T (p.Lys1177Met) c.3431A>T (p.Lys1144Met) c.2612A>T (p.Lys871Met) n.4163A>T | |
13 | g.51937353T>C | CA388021132 | ATP7B | c.*1594A>G (n.*1594A>G) c.*2688A>G (n.*2688A>G) c.3323A>G (p.Lys1108Arg) c.3944A>G (p.Lys1315Arg) c.3611A>G (p.Lys1204Arg) c.3692A>G (p.Lys1231Arg) n.1267A>G c.3710A>G (p.Lys1237Arg) n.4083A>G n.810A>G c.2879A>G (p.Lys960Arg) c.2654A>G (p.Lys885Arg) c.3749A>G (p.Lys1250Arg) c.1722A>G c.*1045A>G (n.*1045A>G) n.4688A>G n.3289A>G c.3800A>G (p.Lys1267Arg) c.3848A>G (p.Lys1283Arg) c.3908A>G (p.Lys1303Arg) c.3458A>G (p.Lys1153Arg) c.1760A>G (p.Lys587Arg) c.1577A>G (p.Lys526Arg) c.3809A>G (p.Lys1270Arg) c.3761A>G (p.Lys1254Arg) c.3530A>G (p.Lys1177Arg) c.3431A>G (p.Lys1144Arg) c.2612A>G (p.Lys871Arg) n.4163A>G | dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937353T>G | CA388021133 | ATP7B | c.*1594A>C (n.*1594A>C) c.*2688A>C (n.*2688A>C) c.3323A>C (p.Lys1108Thr) c.3944A>C (p.Lys1315Thr) c.3611A>C (p.Lys1204Thr) c.3692A>C (p.Lys1231Thr) n.1267A>C c.3710A>C (p.Lys1237Thr) n.4083A>C n.810A>C c.2879A>C (p.Lys960Thr) c.2654A>C (p.Lys885Thr) c.3749A>C (p.Lys1250Thr) c.1722A>C c.*1045A>C (n.*1045A>C) n.4688A>C n.3289A>C c.3800A>C (p.Lys1267Thr) c.3848A>C (p.Lys1283Thr) c.3908A>C (p.Lys1303Thr) c.3458A>C (p.Lys1153Thr) c.1760A>C (p.Lys587Thr) c.1577A>C (p.Lys526Thr) c.3809A>C (p.Lys1270Thr) c.3761A>C (p.Lys1254Thr) c.3530A>C (p.Lys1177Thr) c.3431A>C (p.Lys1144Thr) c.2612A>C (p.Lys871Thr) n.4163A>C | |
13 | g.51937353T= | CA2091553488 | ATP7B | c.*1594A= (n.*1594A=) c.*2688A= (n.*2688A=) c.3323A= (p.Lys1108=) c.3944A= (p.Lys1315=) c.3611A= (p.Lys1204=) c.3692A= (p.Lys1231=) n.1267A= c.3710A= (p.Lys1237=) n.4083A= n.810A= c.2879A= (p.Lys960=) c.2654A= (p.Lys885=) c.3749A= (p.Lys1250=) c.1722A= c.*1045A= (n.*1045A=) n.4688A= n.3289A= c.3800A= (p.Lys1267=) c.3848A= (p.Lys1283=) c.3908A= (p.Lys1303=) c.3458A= (p.Lys1153=) c.1760A= (p.Lys587=) c.1577A= (p.Lys526=) c.3809A= (p.Lys1270=) c.3761A= (p.Lys1254=) c.3530A= (p.Lys1177=) c.3431A= (p.Lys1144=) c.2612A= (p.Lys871=) n.4163A= | |
13 | g.51937353_51937355delinsTTG | CA2091553487 | ATP7B | c.*1592_*1594delinsCAA (n.*1592_*1594delinsCAA) c.*2686_*2688delinsCAA (n.*2686_*2688delinsCAA) c.3321_3323delinsCAA (p.Ser1107=) c.3942_3944delinsCAA (p.Ser1314=) c.3609_3611delinsCAA (p.Ser1203=) c.3690_3692delinsCAA (p.Ser1230=) n.1265_1267delinsCAA c.3708_3710delinsCAA (p.Ser1236=) n.4081_4083delinsCAA n.808_810delinsCAA c.2877_2879delinsCAA (p.Ser959=) c.2652_2654delinsCAA (p.Ser884=) c.3747_3749delinsCAA (p.Ser1249=) c.1720_1722delinsCAA c.*1043_*1045delinsCAA (n.*1043_*1045delinsCAA) n.4686_4688delinsCAA n.3287_3289delinsCAA c.3798_3800delinsCAA (p.Ser1266=) c.3846_3848delinsCAA (p.Ser1282=) c.3906_3908delinsCAA (p.Ser1302=) c.3456_3458delinsCAA (p.Ser1152=) c.1758_1760delinsCAA (p.Ser586=) c.1575_1577delinsCAA (p.Ser525=) c.3807_3809delinsCAA (p.Ser1269=) c.3759_3761delinsCAA (p.Ser1253=) c.3528_3530delinsCAA (p.Ser1176=) c.3429_3431delinsCAA (p.Ser1143=) c.2610_2612delinsCAA (p.Ser870=) n.4161_4163delinsCAA | |
13 | g.51937354T>A | CA388021137 | ATP7B | c.*1593A>T (n.*1593A>T) c.*2687A>T (n.*2687A>T) c.3322A>T (p.Lys1108Ter) c.3943A>T (p.Lys1315Ter) c.3610A>T (p.Lys1204Ter) c.3691A>T (p.Lys1231Ter) n.1266A>T c.3709A>T (p.Lys1237Ter) n.4082A>T n.809A>T c.2878A>T (p.Lys960Ter) c.2653A>T (p.Lys885Ter) c.3748A>T (p.Lys1250Ter) c.1721A>T c.*1044A>T (n.*1044A>T) n.4687A>T n.3288A>T c.3799A>T (p.Lys1267Ter) c.3847A>T (p.Lys1283Ter) c.3907A>T (p.Lys1303Ter) c.3457A>T (p.Lys1153Ter) c.1759A>T (p.Lys587Ter) c.1576A>T (p.Lys526Ter) c.3808A>T (p.Lys1270Ter) c.3760A>T (p.Lys1254Ter) c.3529A>T (p.Lys1177Ter) c.3430A>T (p.Lys1144Ter) c.2611A>T (p.Lys871Ter) n.4162A>T | |
13 | g.51937354T>C | CA388021139 | ATP7B | c.*1593A>G (n.*1593A>G) c.*2687A>G (n.*2687A>G) c.3322A>G (p.Lys1108Glu) c.3943A>G (p.Lys1315Glu) c.3610A>G (p.Lys1204Glu) c.3691A>G (p.Lys1231Glu) n.1266A>G c.3709A>G (p.Lys1237Glu) n.4082A>G n.809A>G c.2878A>G (p.Lys960Glu) c.2653A>G (p.Lys885Glu) c.3748A>G (p.Lys1250Glu) c.1721A>G c.*1044A>G (n.*1044A>G) n.4687A>G n.3288A>G c.3799A>G (p.Lys1267Glu) c.3847A>G (p.Lys1283Glu) c.3907A>G (p.Lys1303Glu) c.3457A>G (p.Lys1153Glu) c.1759A>G (p.Lys587Glu) c.1576A>G (p.Lys526Glu) c.3808A>G (p.Lys1270Glu) c.3760A>G (p.Lys1254Glu) c.3529A>G (p.Lys1177Glu) c.3430A>G (p.Lys1144Glu) c.2611A>G (p.Lys871Glu) n.4162A>G | |
13 | g.51937354T>G | CA388021135 | ATP7B | c.*1593A>C (n.*1593A>C) c.*2687A>C (n.*2687A>C) c.3322A>C (p.Lys1108Gln) c.3943A>C (p.Lys1315Gln) c.3610A>C (p.Lys1204Gln) c.3691A>C (p.Lys1231Gln) n.1266A>C c.3709A>C (p.Lys1237Gln) n.4082A>C n.809A>C c.2878A>C (p.Lys960Gln) c.2653A>C (p.Lys885Gln) c.3748A>C (p.Lys1250Gln) c.1721A>C c.*1044A>C (n.*1044A>C) n.4687A>C n.3288A>C c.3799A>C (p.Lys1267Gln) c.3847A>C (p.Lys1283Gln) c.3907A>C (p.Lys1303Gln) c.3457A>C (p.Lys1153Gln) c.1759A>C (p.Lys587Gln) c.1576A>C (p.Lys526Gln) c.3808A>C (p.Lys1270Gln) c.3760A>C (p.Lys1254Gln) c.3529A>C (p.Lys1177Gln) c.3430A>C (p.Lys1144Gln) c.2611A>C (p.Lys871Gln) n.4162A>C | |
13 | g.51937354_51937355del | CA16041662 | ATP7B | c.*1592_*1593del (n.*1592_*1593del) c.*2686_*2687del (n.*2686_*2687del) c.3321_3322del (p.Lys1108GlufsTer17) c.3942_3943del (p.Lys1315GlufsTer17) c.3609_3610del (p.Lys1204GlufsTer17) c.3690_3691del (p.Lys1231GlufsTer17) n.1265_1266del c.3708_3709del (p.Lys1237GlufsTer17) n.4081_4082del n.808_809del c.2877_2878del (p.Lys960GlufsTer17) c.2652_2653del (p.Lys885GlufsTer17) c.3747_3748del (p.Lys1250GlufsTer17) c.1720_1721del c.*1043_*1044del (n.*1043_*1044del) n.4686_4687del n.3287_3288del c.3798_3799del (p.Lys1267GlufsTer17) c.3846_3847del (p.Lys1283GlufsTer17) c.3906_3907del (p.Lys1303GlufsTer17) c.3456_3457del (p.Lys1153GlufsTer17) c.1758_1759del (p.Lys587GlufsTer17) c.1575_1576del (p.Lys526GlufsTer17) c.3807_3808del (p.Lys1270GlufsTer17) c.3759_3760del (p.Lys1254GlufsTer17) c.3528_3529del (p.Lys1177GlufsTer17) c.3429_3430del (p.Lys1144GlufsTer17) c.2610_2611del (p.Lys871GlufsTer17) n.4161_4162del | ClinVar dbSNP gnomAD v4 |
13 | g.51937355G>A | CA484024240 | ATP7B | c.*1592C>T (n.*1592C>T) c.*2686C>T (n.*2686C>T) c.3321C>T (p.Ser1107=) c.3942C>T (p.Ser1314=) c.3609C>T (p.Ser1203=) c.3690C>T (p.Ser1230=) n.1265C>T c.3708C>T (p.Ser1236=) n.4081C>T n.808C>T c.2877C>T (p.Ser959=) c.2652C>T (p.Ser884=) c.3747C>T (p.Ser1249=) c.1720C>T c.*1043C>T (n.*1043C>T) n.4686C>T n.3287C>T c.3798C>T (p.Ser1266=) c.3846C>T (p.Ser1282=) c.3906C>T (p.Ser1302=) c.3456C>T (p.Ser1152=) c.1758C>T (p.Ser586=) c.1575C>T (p.Ser525=) c.3807C>T (p.Ser1269=) c.3759C>T (p.Ser1253=) c.3528C>T (p.Ser1176=) c.3429C>T (p.Ser1143=) c.2610C>T (p.Ser870=) n.4161C>T | |
13 | g.51937355G>C | CA484024241 | ATP7B | c.*1592C>G (n.*1592C>G) c.*2686C>G (n.*2686C>G) c.3321C>G (p.Ser1107=) c.3942C>G (p.Ser1314=) c.3609C>G (p.Ser1203=) c.3690C>G (p.Ser1230=) n.1265C>G c.3708C>G (p.Ser1236=) n.4081C>G n.808C>G c.2877C>G (p.Ser959=) c.2652C>G (p.Ser884=) c.3747C>G (p.Ser1249=) c.1720C>G c.*1043C>G (n.*1043C>G) n.4686C>G n.3287C>G c.3798C>G (p.Ser1266=) c.3846C>G (p.Ser1282=) c.3906C>G (p.Ser1302=) c.3456C>G (p.Ser1152=) c.1758C>G (p.Ser586=) c.1575C>G (p.Ser525=) c.3807C>G (p.Ser1269=) c.3759C>G (p.Ser1253=) c.3528C>G (p.Ser1176=) c.3429C>G (p.Ser1143=) c.2610C>G (p.Ser870=) n.4161C>G | |
13 | g.51937355G>T | CA484024242 | ATP7B | c.*1592C>A (n.*1592C>A) c.*2686C>A (n.*2686C>A) c.3321C>A (p.Ser1107=) c.3942C>A (p.Ser1314=) c.3609C>A (p.Ser1203=) c.3690C>A (p.Ser1230=) n.1265C>A c.3708C>A (p.Ser1236=) n.4081C>A n.808C>A c.2877C>A (p.Ser959=) c.2652C>A (p.Ser884=) c.3747C>A (p.Ser1249=) c.1720C>A c.*1043C>A (n.*1043C>A) n.4686C>A n.3287C>A c.3798C>A (p.Ser1266=) c.3846C>A (p.Ser1282=) c.3906C>A (p.Ser1302=) c.3456C>A (p.Ser1152=) c.1758C>A (p.Ser586=) c.1575C>A (p.Ser525=) c.3807C>A (p.Ser1269=) c.3759C>A (p.Ser1253=) c.3528C>A (p.Ser1176=) c.3429C>A (p.Ser1143=) c.2610C>A (p.Ser870=) n.4161C>A | |
13 | g.51937356G>A | CA388021142 | ATP7B | c.*1591C>T (n.*1591C>T) c.*2685C>T (n.*2685C>T) c.3320C>T (p.Ser1107Phe) c.3941C>T (p.Ser1314Phe) c.3608C>T (p.Ser1203Phe) c.3689C>T (p.Ser1230Phe) n.1264C>T c.3707C>T (p.Ser1236Phe) n.4080C>T n.807C>T c.2876C>T (p.Ser959Phe) c.2651C>T (p.Ser884Phe) c.3746C>T (p.Ser1249Phe) c.1719C>T c.*1042C>T (n.*1042C>T) n.4685C>T n.3286C>T c.3797C>T (p.Ser1266Phe) c.3845C>T (p.Ser1282Phe) c.3905C>T (p.Ser1302Phe) c.3455C>T (p.Ser1152Phe) c.1757C>T (p.Ser586Phe) c.1574C>T (p.Ser525Phe) c.3806C>T (p.Ser1269Phe) c.3758C>T (p.Ser1253Phe) c.3527C>T (p.Ser1176Phe) c.3428C>T (p.Ser1143Phe) c.2609C>T (p.Ser870Phe) n.4160C>T | ClinVar dbSNP |
13 | g.51937356G>C | CA388021140 | ATP7B | c.*1591C>G (n.*1591C>G) c.*2685C>G (n.*2685C>G) c.3320C>G (p.Ser1107Cys) c.3941C>G (p.Ser1314Cys) c.3608C>G (p.Ser1203Cys) c.3689C>G (p.Ser1230Cys) n.1264C>G c.3707C>G (p.Ser1236Cys) n.4080C>G n.807C>G c.2876C>G (p.Ser959Cys) c.2651C>G (p.Ser884Cys) c.3746C>G (p.Ser1249Cys) c.1719C>G c.*1042C>G (n.*1042C>G) n.4685C>G n.3286C>G c.3797C>G (p.Ser1266Cys) c.3845C>G (p.Ser1282Cys) c.3905C>G (p.Ser1302Cys) c.3455C>G (p.Ser1152Cys) c.1757C>G (p.Ser586Cys) c.1574C>G (p.Ser525Cys) c.3806C>G (p.Ser1269Cys) c.3758C>G (p.Ser1253Cys) c.3527C>G (p.Ser1176Cys) c.3428C>G (p.Ser1143Cys) c.2609C>G (p.Ser870Cys) n.4160C>G | |
13 | g.51937356G= | CA2091553495 | ATP7B | c.*1591C= (n.*1591C=) c.*2685C= (n.*2685C=) c.3320C= (p.Ser1107=) c.3941C= (p.Ser1314=) c.3608C= (p.Ser1203=) c.3689C= (p.Ser1230=) n.1264C= c.3707C= (p.Ser1236=) n.4080C= n.807C= c.2876C= (p.Ser959=) c.2651C= (p.Ser884=) c.3746C= (p.Ser1249=) c.1719C= c.*1042C= (n.*1042C=) n.4685C= n.3286C= c.3797C= (p.Ser1266=) c.3845C= (p.Ser1282=) c.3905C= (p.Ser1302=) c.3455C= (p.Ser1152=) c.1757C= (p.Ser586=) c.1574C= (p.Ser525=) c.3806C= (p.Ser1269=) c.3758C= (p.Ser1253=) c.3527C= (p.Ser1176=) c.3428C= (p.Ser1143=) c.2609C= (p.Ser870=) n.4160C= | |
13 | g.51937356G>T | CA388021143 | ATP7B | c.*1591C>A (n.*1591C>A) c.*2685C>A (n.*2685C>A) c.3320C>A (p.Ser1107Tyr) c.3941C>A (p.Ser1314Tyr) c.3608C>A (p.Ser1203Tyr) c.3689C>A (p.Ser1230Tyr) n.1264C>A c.3707C>A (p.Ser1236Tyr) n.4080C>A n.807C>A c.2876C>A (p.Ser959Tyr) c.2651C>A (p.Ser884Tyr) c.3746C>A (p.Ser1249Tyr) c.1719C>A c.*1042C>A (n.*1042C>A) n.4685C>A n.3286C>A c.3797C>A (p.Ser1266Tyr) c.3845C>A (p.Ser1282Tyr) c.3905C>A (p.Ser1302Tyr) c.3455C>A (p.Ser1152Tyr) c.1757C>A (p.Ser586Tyr) c.1574C>A (p.Ser525Tyr) c.3806C>A (p.Ser1269Tyr) c.3758C>A (p.Ser1253Tyr) c.3527C>A (p.Ser1176Tyr) c.3428C>A (p.Ser1143Tyr) c.2609C>A (p.Ser870Tyr) n.4160C>A | |
13 | g.51937357A>C | CA388021145 | ATP7B | c.*1590T>G (n.*1590T>G) c.*2684T>G (n.*2684T>G) c.3319T>G (p.Ser1107Ala) c.3940T>G (p.Ser1314Ala) c.3607T>G (p.Ser1203Ala) c.3688T>G (p.Ser1230Ala) n.1263T>G c.3706T>G (p.Ser1236Ala) n.4079T>G n.806T>G c.2875T>G (p.Ser959Ala) c.2650T>G (p.Ser884Ala) c.3745T>G (p.Ser1249Ala) c.1718T>G c.*1041T>G (n.*1041T>G) n.4684T>G n.3285T>G c.3796T>G (p.Ser1266Ala) c.3844T>G (p.Ser1282Ala) c.3904T>G (p.Ser1302Ala) c.3454T>G (p.Ser1152Ala) c.1756T>G (p.Ser586Ala) c.1573T>G (p.Ser525Ala) c.3805T>G (p.Ser1269Ala) c.3757T>G (p.Ser1253Ala) c.3526T>G (p.Ser1176Ala) c.3427T>G (p.Ser1143Ala) c.2608T>G (p.Ser870Ala) n.4159T>G | |
13 | g.51937357A>G | CA388021147 | ATP7B | c.*1590T>C (n.*1590T>C) c.*2684T>C (n.*2684T>C) c.3319T>C (p.Ser1107Pro) c.3940T>C (p.Ser1314Pro) c.3607T>C (p.Ser1203Pro) c.3688T>C (p.Ser1230Pro) n.1263T>C c.3706T>C (p.Ser1236Pro) n.4079T>C n.806T>C c.2875T>C (p.Ser959Pro) c.2650T>C (p.Ser884Pro) c.3745T>C (p.Ser1249Pro) c.1718T>C c.*1041T>C (n.*1041T>C) n.4684T>C n.3285T>C c.3796T>C (p.Ser1266Pro) c.3844T>C (p.Ser1282Pro) c.3904T>C (p.Ser1302Pro) c.3454T>C (p.Ser1152Pro) c.1756T>C (p.Ser586Pro) c.1573T>C (p.Ser525Pro) c.3805T>C (p.Ser1269Pro) c.3757T>C (p.Ser1253Pro) c.3526T>C (p.Ser1176Pro) c.3427T>C (p.Ser1143Pro) c.2608T>C (p.Ser870Pro) n.4159T>C | |
13 | g.51937357A>T | CA388021149 | ATP7B | c.*1590T>A (n.*1590T>A) c.*2684T>A (n.*2684T>A) c.3319T>A (p.Ser1107Thr) c.3940T>A (p.Ser1314Thr) c.3607T>A (p.Ser1203Thr) c.3688T>A (p.Ser1230Thr) n.1263T>A c.3706T>A (p.Ser1236Thr) n.4079T>A n.806T>A c.2875T>A (p.Ser959Thr) c.2650T>A (p.Ser884Thr) c.3745T>A (p.Ser1249Thr) c.1718T>A c.*1041T>A (n.*1041T>A) n.4684T>A n.3285T>A c.3796T>A (p.Ser1266Thr) c.3844T>A (p.Ser1282Thr) c.3904T>A (p.Ser1302Thr) c.3454T>A (p.Ser1152Thr) c.1756T>A (p.Ser586Thr) c.1573T>A (p.Ser525Thr) c.3805T>A (p.Ser1269Thr) c.3757T>A (p.Ser1253Thr) c.3526T>A (p.Ser1176Thr) c.3427T>A (p.Ser1143Thr) c.2608T>A (p.Ser870Thr) n.4159T>A | |
13 | g.51937358A= | CA2091553499 | ATP7B | c.*1589T= (n.*1589T=) c.*2683T= (n.*2683T=) c.3318T= (p.Leu1106=) c.3939T= (p.Leu1313=) c.3606T= (p.Leu1202=) c.3687T= (p.Leu1229=) n.1262T= c.3705T= (p.Leu1235=) n.4078T= n.805T= c.2874T= (p.Leu958=) c.2649T= (p.Leu883=) c.3744T= (p.Leu1248=) c.1717T= c.*1040T= (n.*1040T=) n.4683T= n.3284T= c.3795T= (p.Leu1265=) c.3843T= (p.Leu1281=) c.3903T= (p.Leu1301=) c.3453T= (p.Leu1151=) c.1755T= (p.Leu585=) c.1572T= (p.Leu524=) c.3804T= (p.Leu1268=) c.3756T= (p.Leu1252=) c.3525T= (p.Leu1175=) c.3426T= (p.Leu1142=) c.2607T= (p.Leu869=) n.4158T= | |
13 | g.51937358A>C | CA484024243 | ATP7B | c.*1589T>G (n.*1589T>G) c.*2683T>G (n.*2683T>G) c.3318T>G (p.Leu1106=) c.3939T>G (p.Leu1313=) c.3606T>G (p.Leu1202=) c.3687T>G (p.Leu1229=) n.1262T>G c.3705T>G (p.Leu1235=) n.4078T>G n.805T>G c.2874T>G (p.Leu958=) c.2649T>G (p.Leu883=) c.3744T>G (p.Leu1248=) c.1717T>G c.*1040T>G (n.*1040T>G) n.4683T>G n.3284T>G c.3795T>G (p.Leu1265=) c.3843T>G (p.Leu1281=) c.3903T>G (p.Leu1301=) c.3453T>G (p.Leu1151=) c.1755T>G (p.Leu585=) c.1572T>G (p.Leu524=) c.3804T>G (p.Leu1268=) c.3756T>G (p.Leu1252=) c.3525T>G (p.Leu1175=) c.3426T>G (p.Leu1142=) c.2607T>G (p.Leu869=) n.4158T>G | gnomAD v4 |
13 | g.51937358A>G | CA250073397 | ATP7B | c.*1589T>C (n.*1589T>C) c.*2683T>C (n.*2683T>C) c.3318T>C (p.Leu1106=) c.3939T>C (p.Leu1313=) c.3606T>C (p.Leu1202=) c.3687T>C (p.Leu1229=) n.1262T>C c.3705T>C (p.Leu1235=) n.4078T>C n.805T>C c.2874T>C (p.Leu958=) c.2649T>C (p.Leu883=) c.3744T>C (p.Leu1248=) c.1717T>C c.*1040T>C (n.*1040T>C) n.4683T>C n.3284T>C c.3795T>C (p.Leu1265=) c.3843T>C (p.Leu1281=) c.3903T>C (p.Leu1301=) c.3453T>C (p.Leu1151=) c.1755T>C (p.Leu585=) c.1572T>C (p.Leu524=) c.3804T>C (p.Leu1268=) c.3756T>C (p.Leu1252=) c.3525T>C (p.Leu1175=) c.3426T>C (p.Leu1142=) c.2607T>C (p.Leu869=) n.4158T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.51937358A>T | CA484024244 | ATP7B | c.*1589T>A (n.*1589T>A) c.*2683T>A (n.*2683T>A) c.3318T>A (p.Leu1106=) c.3939T>A (p.Leu1313=) c.3606T>A (p.Leu1202=) c.3687T>A (p.Leu1229=) n.1262T>A c.3705T>A (p.Leu1235=) n.4078T>A n.805T>A c.2874T>A (p.Leu958=) c.2649T>A (p.Leu883=) c.3744T>A (p.Leu1248=) c.1717T>A c.*1040T>A (n.*1040T>A) n.4683T>A n.3284T>A c.3795T>A (p.Leu1265=) c.3843T>A (p.Leu1281=) c.3903T>A (p.Leu1301=) c.3453T>A (p.Leu1151=) c.1755T>A (p.Leu585=) c.1572T>A (p.Leu524=) c.3804T>A (p.Leu1268=) c.3756T>A (p.Leu1252=) c.3525T>A (p.Leu1175=) c.3426T>A (p.Leu1142=) c.2607T>A (p.Leu869=) n.4158T>A | |
13 | g.51937359A>C | CA388021150 | ATP7B | c.*1588T>G (n.*1588T>G) c.*2682T>G (n.*2682T>G) c.3317T>G (p.Leu1106Arg) c.3938T>G (p.Leu1313Arg) c.3605T>G (p.Leu1202Arg) c.3686T>G (p.Leu1229Arg) n.1261T>G c.3704T>G (p.Leu1235Arg) n.4077T>G n.804T>G c.2873T>G (p.Leu958Arg) c.2648T>G (p.Leu883Arg) c.3743T>G (p.Leu1248Arg) c.1716T>G c.*1039T>G (n.*1039T>G) n.4682T>G n.3283T>G c.3794T>G (p.Leu1265Arg) c.3842T>G (p.Leu1281Arg) c.3902T>G (p.Leu1301Arg) c.3452T>G (p.Leu1151Arg) c.1754T>G (p.Leu585Arg) c.1571T>G (p.Leu524Arg) c.3803T>G (p.Leu1268Arg) c.3755T>G (p.Leu1252Arg) c.3524T>G (p.Leu1175Arg) c.3425T>G (p.Leu1142Arg) c.2606T>G (p.Leu869Arg) n.4157T>G | gnomAD v4 |
13 | g.51937359A>G | CA388021152 | ATP7B | c.*1588T>C (n.*1588T>C) c.*2682T>C (n.*2682T>C) c.3317T>C (p.Leu1106Pro) c.3938T>C (p.Leu1313Pro) c.3605T>C (p.Leu1202Pro) c.3686T>C (p.Leu1229Pro) n.1261T>C c.3704T>C (p.Leu1235Pro) n.4077T>C n.804T>C c.2873T>C (p.Leu958Pro) c.2648T>C (p.Leu883Pro) c.3743T>C (p.Leu1248Pro) c.1716T>C c.*1039T>C (n.*1039T>C) n.4682T>C n.3283T>C c.3794T>C (p.Leu1265Pro) c.3842T>C (p.Leu1281Pro) c.3902T>C (p.Leu1301Pro) c.3452T>C (p.Leu1151Pro) c.1754T>C (p.Leu585Pro) c.1571T>C (p.Leu524Pro) c.3803T>C (p.Leu1268Pro) c.3755T>C (p.Leu1252Pro) c.3524T>C (p.Leu1175Pro) c.3425T>C (p.Leu1142Pro) c.2606T>C (p.Leu869Pro) n.4157T>C | ClinVar gnomAD v4 |
13 | g.51937359A>T | CA388021154 | ATP7B | c.*1588T>A (n.*1588T>A) c.*2682T>A (n.*2682T>A) c.3317T>A (p.Leu1106His) c.3938T>A (p.Leu1313His) c.3605T>A (p.Leu1202His) c.3686T>A (p.Leu1229His) n.1261T>A c.3704T>A (p.Leu1235His) n.4077T>A n.804T>A c.2873T>A (p.Leu958His) c.2648T>A (p.Leu883His) c.3743T>A (p.Leu1248His) c.1716T>A c.*1039T>A (n.*1039T>A) n.4682T>A n.3283T>A c.3794T>A (p.Leu1265His) c.3842T>A (p.Leu1281His) c.3902T>A (p.Leu1301His) c.3452T>A (p.Leu1151His) c.1754T>A (p.Leu585His) c.1571T>A (p.Leu524His) c.3803T>A (p.Leu1268His) c.3755T>A (p.Leu1252His) c.3524T>A (p.Leu1175His) c.3425T>A (p.Leu1142His) c.2606T>A (p.Leu869His) n.4157T>A | |
13 | g.51937360G>A | CA388021156 | ATP7B | c.*1587C>T (n.*1587C>T) c.*2681C>T (n.*2681C>T) c.3316C>T (p.Leu1106Phe) c.3937C>T (p.Leu1313Phe) c.3604C>T (p.Leu1202Phe) c.3685C>T (p.Leu1229Phe) n.1260C>T c.3703C>T (p.Leu1235Phe) n.4076C>T n.803C>T c.2872C>T (p.Leu958Phe) c.2647C>T (p.Leu883Phe) c.3742C>T (p.Leu1248Phe) c.1715C>T c.*1038C>T (n.*1038C>T) n.4681C>T n.3282C>T c.3793C>T (p.Leu1265Phe) c.3841C>T (p.Leu1281Phe) c.3901C>T (p.Leu1301Phe) c.3451C>T (p.Leu1151Phe) c.1753C>T (p.Leu585Phe) c.1570C>T (p.Leu524Phe) c.3802C>T (p.Leu1268Phe) c.3754C>T (p.Leu1252Phe) c.3523C>T (p.Leu1175Phe) c.3424C>T (p.Leu1142Phe) c.2605C>T (p.Leu869Phe) n.4156C>T | |
13 | g.51937360G>C | CA388021157 | ATP7B | c.*1587C>G (n.*1587C>G) c.*2681C>G (n.*2681C>G) c.3316C>G (p.Leu1106Val) c.3937C>G (p.Leu1313Val) c.3604C>G (p.Leu1202Val) c.3685C>G (p.Leu1229Val) n.1260C>G c.3703C>G (p.Leu1235Val) n.4076C>G n.803C>G c.2872C>G (p.Leu958Val) c.2647C>G (p.Leu883Val) c.3742C>G (p.Leu1248Val) c.1715C>G c.*1038C>G (n.*1038C>G) n.4681C>G n.3282C>G c.3793C>G (p.Leu1265Val) c.3841C>G (p.Leu1281Val) c.3901C>G (p.Leu1301Val) c.3451C>G (p.Leu1151Val) c.1753C>G (p.Leu585Val) c.1570C>G (p.Leu524Val) c.3802C>G (p.Leu1268Val) c.3754C>G (p.Leu1252Val) c.3523C>G (p.Leu1175Val) c.3424C>G (p.Leu1142Val) c.2605C>G (p.Leu869Val) n.4156C>G | |
13 | g.51937360G>T | CA388021158 | ATP7B | c.*1587C>A (n.*1587C>A) c.*2681C>A (n.*2681C>A) c.3316C>A (p.Leu1106Ile) c.3937C>A (p.Leu1313Ile) c.3604C>A (p.Leu1202Ile) c.3685C>A (p.Leu1229Ile) n.1260C>A c.3703C>A (p.Leu1235Ile) n.4076C>A n.803C>A c.2872C>A (p.Leu958Ile) c.2647C>A (p.Leu883Ile) c.3742C>A (p.Leu1248Ile) c.1715C>A c.*1038C>A (n.*1038C>A) n.4681C>A n.3282C>A c.3793C>A (p.Leu1265Ile) c.3841C>A (p.Leu1281Ile) c.3901C>A (p.Leu1301Ile) c.3451C>A (p.Leu1151Ile) c.1753C>A (p.Leu585Ile) c.1570C>A (p.Leu524Ile) c.3802C>A (p.Leu1268Ile) c.3754C>A (p.Leu1252Ile) c.3523C>A (p.Leu1175Ile) c.3424C>A (p.Leu1142Ile) c.2605C>A (p.Leu869Ile) n.4156C>A | |
13 | g.51937361G>A | CA484024245 | ATP7B | c.*1586C>T (n.*1586C>T) c.*2680C>T (n.*2680C>T) c.3315C>T (p.His1105=) c.3936C>T (p.His1312=) c.3603C>T (p.His1201=) c.3684C>T (p.His1228=) n.1259C>T c.3702C>T (p.His1234=) n.4075C>T n.802C>T c.2871C>T (p.His957=) c.2646C>T (p.His882=) c.3741C>T (p.His1247=) c.1714C>T c.*1037C>T (n.*1037C>T) n.4680C>T n.3281C>T c.3792C>T (p.His1264=) c.3840C>T (p.His1280=) c.3900C>T (p.His1300=) c.3450C>T (p.His1150=) c.1752C>T (p.His584=) c.1569C>T (p.His523=) c.3801C>T (p.His1267=) c.3753C>T (p.His1251=) c.3522C>T (p.His1174=) c.3423C>T (p.His1141=) c.2604C>T (p.His868=) n.4155C>T | ClinVar dbSNP gnomAD v4 |
13 | g.51937361G>C | CA388021160 | ATP7B | c.*1586C>G (n.*1586C>G) c.*2680C>G (n.*2680C>G) c.3315C>G (p.His1105Gln) c.3936C>G (p.His1312Gln) c.3603C>G (p.His1201Gln) c.3684C>G (p.His1228Gln) n.1259C>G c.3702C>G (p.His1234Gln) n.4075C>G n.802C>G c.2871C>G (p.His957Gln) c.2646C>G (p.His882Gln) c.3741C>G (p.His1247Gln) c.1714C>G c.*1037C>G (n.*1037C>G) n.4680C>G n.3281C>G c.3792C>G (p.His1264Gln) c.3840C>G (p.His1280Gln) c.3900C>G (p.His1300Gln) c.3450C>G (p.His1150Gln) c.1752C>G (p.His584Gln) c.1569C>G (p.His523Gln) c.3801C>G (p.His1267Gln) c.3753C>G (p.His1251Gln) c.3522C>G (p.His1174Gln) c.3423C>G (p.His1141Gln) c.2604C>G (p.His868Gln) n.4155C>G | gnomAD v4 |
13 | g.51937361G= | CA2091553504 | ATP7B | c.*1586C= (n.*1586C=) c.*2680C= (n.*2680C=) c.3315C= (p.His1105=) c.3936C= (p.His1312=) c.3603C= (p.His1201=) c.3684C= (p.His1228=) n.1259C= c.3702C= (p.His1234=) n.4075C= n.802C= c.2871C= (p.His957=) c.2646C= (p.His882=) c.3741C= (p.His1247=) c.1714C= c.*1037C= (n.*1037C=) n.4680C= n.3281C= c.3792C= (p.His1264=) c.3840C= (p.His1280=) c.3900C= (p.His1300=) c.3450C= (p.His1150=) c.1752C= (p.His584=) c.1569C= (p.His523=) c.3801C= (p.His1267=) c.3753C= (p.His1251=) c.3522C= (p.His1174=) c.3423C= (p.His1141=) c.2604C= (p.His868=) n.4155C= | |
13 | g.51937361G>T | CA388021161 | ATP7B | c.*1586C>A (n.*1586C>A) c.*2680C>A (n.*2680C>A) c.3315C>A (p.His1105Gln) c.3936C>A (p.His1312Gln) c.3603C>A (p.His1201Gln) c.3684C>A (p.His1228Gln) n.1259C>A c.3702C>A (p.His1234Gln) n.4075C>A n.802C>A c.2871C>A (p.His957Gln) c.2646C>A (p.His882Gln) c.3741C>A (p.His1247Gln) c.1714C>A c.*1037C>A (n.*1037C>A) n.4680C>A n.3281C>A c.3792C>A (p.His1264Gln) c.3840C>A (p.His1280Gln) c.3900C>A (p.His1300Gln) c.3450C>A (p.His1150Gln) c.1752C>A (p.His584Gln) c.1569C>A (p.His523Gln) c.3801C>A (p.His1267Gln) c.3753C>A (p.His1251Gln) c.3522C>A (p.His1174Gln) c.3423C>A (p.His1141Gln) c.2604C>A (p.His868Gln) n.4155C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.51937362_51937363del | CA2580087700 | ATP7B | c.*1585_*1586del (n.*1585_*1586del) c.*2679_*2680del (n.*2679_*2680del) c.3314_3315del (p.His1105ProfsTer20) c.3935_3936del (p.His1312ProfsTer20) c.3602_3603del (p.His1201ProfsTer20) c.3683_3684del (p.His1228ProfsTer20) n.1258_1259del c.3701_3702del (p.His1234ProfsTer20) n.4074_4075del n.801_802del c.2870_2871del (p.His957ProfsTer20) c.2645_2646del (p.His882ProfsTer20) c.3740_3741del (p.His1247ProfsTer20) c.1713_1714del c.*1036_*1037del (n.*1036_*1037del) n.4679_4680del n.3280_3281del c.3791_3792del (p.His1264ProfsTer20) c.3839_3840del (p.His1280ProfsTer20) c.3899_3900del (p.His1300ProfsTer20) c.3449_3450del (p.His1150ProfsTer20) c.1751_1752del (p.His584ProfsTer20) c.1568_1569del (p.His523ProfsTer20) c.3800_3801del (p.His1267ProfsTer20) c.3752_3753del (p.His1251ProfsTer20) c.3521_3522del (p.His1174ProfsTer20) c.3422_3423del (p.His1141ProfsTer20) c.2603_2604del (p.His868ProfsTer20) n.4154_4155del | ClinVar |
13 | g.51937362T>A | CA388021167 | ATP7B | c.*1585A>T (n.*1585A>T) c.*2679A>T (n.*2679A>T) c.3314A>T (p.His1105Leu) c.3935A>T (p.His1312Leu) c.3602A>T (p.His1201Leu) c.3683A>T (p.His1228Leu) n.1258A>T c.3701A>T (p.His1234Leu) n.4074A>T n.801A>T c.2870A>T (p.His957Leu) c.2645A>T (p.His882Leu) c.3740A>T (p.His1247Leu) c.1713A>T c.*1036A>T (n.*1036A>T) n.4679A>T n.3280A>T c.3791A>T (p.His1264Leu) c.3839A>T (p.His1280Leu) c.3899A>T (p.His1300Leu) c.3449A>T (p.His1150Leu) c.1751A>T (p.His584Leu) c.1568A>T (p.His523Leu) c.3800A>T (p.His1267Leu) c.3752A>T (p.His1251Leu) c.3521A>T (p.His1174Leu) c.3422A>T (p.His1141Leu) c.2603A>T (p.His868Leu) n.4154A>T | |
13 | g.51937362T>C | CA388021165 | ATP7B | c.*1585A>G (n.*1585A>G) c.*2679A>G (n.*2679A>G) c.3314A>G (p.His1105Arg) c.3935A>G (p.His1312Arg) c.3602A>G (p.His1201Arg) c.3683A>G (p.His1228Arg) n.1258A>G c.3701A>G (p.His1234Arg) n.4074A>G n.801A>G c.2870A>G (p.His957Arg) c.2645A>G (p.His882Arg) c.3740A>G (p.His1247Arg) c.1713A>G c.*1036A>G (n.*1036A>G) n.4679A>G n.3280A>G c.3791A>G (p.His1264Arg) c.3839A>G (p.His1280Arg) c.3899A>G (p.His1300Arg) c.3449A>G (p.His1150Arg) c.1751A>G (p.His584Arg) c.1568A>G (p.His523Arg) c.3800A>G (p.His1267Arg) c.3752A>G (p.His1251Arg) c.3521A>G (p.His1174Arg) c.3422A>G (p.His1141Arg) c.2603A>G (p.His868Arg) n.4154A>G | |
13 | g.51937362T>G | CA388021163 | ATP7B | c.*1585A>C (n.*1585A>C) c.*2679A>C (n.*2679A>C) c.3314A>C (p.His1105Pro) c.3935A>C (p.His1312Pro) c.3602A>C (p.His1201Pro) c.3683A>C (p.His1228Pro) n.1258A>C c.3701A>C (p.His1234Pro) n.4074A>C n.801A>C c.2870A>C (p.His957Pro) c.2645A>C (p.His882Pro) c.3740A>C (p.His1247Pro) c.1713A>C c.*1036A>C (n.*1036A>C) n.4679A>C n.3280A>C c.3791A>C (p.His1264Pro) c.3839A>C (p.His1280Pro) c.3899A>C (p.His1300Pro) c.3449A>C (p.His1150Pro) c.1751A>C (p.His584Pro) c.1568A>C (p.His523Pro) c.3800A>C (p.His1267Pro) c.3752A>C (p.His1251Pro) c.3521A>C (p.His1174Pro) c.3422A>C (p.His1141Pro) c.2603A>C (p.His868Pro) n.4154A>C | |
13 | g.51937363G>A | CA388021168 | ATP7B | c.*1584C>T (n.*1584C>T) c.*2678C>T (n.*2678C>T) c.3313C>T (p.His1105Tyr) c.3934C>T (p.His1312Tyr) c.3601C>T (p.His1201Tyr) c.3682C>T (p.His1228Tyr) n.1257C>T c.3700C>T (p.His1234Tyr) n.4073C>T n.800C>T c.2869C>T (p.His957Tyr) c.2644C>T (p.His882Tyr) c.3739C>T (p.His1247Tyr) c.1712C>T c.*1035C>T (n.*1035C>T) n.4678C>T n.3279C>T c.3790C>T (p.His1264Tyr) c.3838C>T (p.His1280Tyr) c.3898C>T (p.His1300Tyr) c.3448C>T (p.His1150Tyr) c.1750C>T (p.His584Tyr) c.1567C>T (p.His523Tyr) c.3799C>T (p.His1267Tyr) c.3751C>T (p.His1251Tyr) c.3520C>T (p.His1174Tyr) c.3421C>T (p.His1141Tyr) c.2602C>T (p.His868Tyr) n.4153C>T | |
13 | g.51937363G>C | CA388021170 | ATP7B | c.*1584C>G (n.*1584C>G) c.*2678C>G (n.*2678C>G) c.3313C>G (p.His1105Asp) c.3934C>G (p.His1312Asp) c.3601C>G (p.His1201Asp) c.3682C>G (p.His1228Asp) n.1257C>G c.3700C>G (p.His1234Asp) n.4073C>G n.800C>G c.2869C>G (p.His957Asp) c.2644C>G (p.His882Asp) c.3739C>G (p.His1247Asp) c.1712C>G c.*1035C>G (n.*1035C>G) n.4678C>G n.3279C>G c.3790C>G (p.His1264Asp) c.3838C>G (p.His1280Asp) c.3898C>G (p.His1300Asp) c.3448C>G (p.His1150Asp) c.1750C>G (p.His584Asp) c.1567C>G (p.His523Asp) c.3799C>G (p.His1267Asp) c.3751C>G (p.His1251Asp) c.3520C>G (p.His1174Asp) c.3421C>G (p.His1141Asp) c.2602C>G (p.His868Asp) n.4153C>G | |
13 | g.51937363G>T | CA388021171 | ATP7B | c.*1584C>A (n.*1584C>A) c.*2678C>A (n.*2678C>A) c.3313C>A (p.His1105Asn) c.3934C>A (p.His1312Asn) c.3601C>A (p.His1201Asn) c.3682C>A (p.His1228Asn) n.1257C>A c.3700C>A (p.His1234Asn) n.4073C>A n.800C>A c.2869C>A (p.His957Asn) c.2644C>A (p.His882Asn) c.3739C>A (p.His1247Asn) c.1712C>A c.*1035C>A (n.*1035C>A) n.4678C>A n.3279C>A c.3790C>A (p.His1264Asn) c.3838C>A (p.His1280Asn) c.3898C>A (p.His1300Asn) c.3448C>A (p.His1150Asn) c.1750C>A (p.His584Asn) c.1567C>A (p.His523Asn) c.3799C>A (p.His1267Asn) c.3751C>A (p.His1251Asn) c.3520C>A (p.His1174Asn) c.3421C>A (p.His1141Asn) c.2602C>A (p.His868Asn) n.4153C>A | gnomAD v4 |
13 | g.51937364A>C | CA388021172 | ATP7B | c.*1583T>G (n.*1583T>G) c.*2677T>G (n.*2677T>G) c.3312T>G (p.Ile1104Met) c.3933T>G (p.Ile1311Met) c.3600T>G (p.Ile1200Met) c.3681T>G (p.Ile1227Met) n.1256T>G c.3699T>G (p.Ile1233Met) n.4072T>G n.799T>G c.2868T>G (p.Ile956Met) c.2643T>G (p.Ile881Met) c.3738T>G (p.Ile1246Met) c.1711T>G c.*1034T>G (n.*1034T>G) n.4677T>G n.3278T>G c.3789T>G (p.Ile1263Met) c.3837T>G (p.Ile1279Met) c.3897T>G (p.Ile1299Met) c.3447T>G (p.Ile1149Met) c.1749T>G (p.Ile583Met) c.1566T>G (p.Ile522Met) c.3798T>G (p.Ile1266Met) c.3750T>G (p.Ile1250Met) c.3519T>G (p.Ile1173Met) c.3420T>G (p.Ile1140Met) c.2601T>G (p.Ile867Met) n.4152T>G | |
13 | g.51937364A>G | CA484024246 | ATP7B | c.*1583T>C (n.*1583T>C) c.*2677T>C (n.*2677T>C) c.3312T>C (p.Ile1104=) c.3933T>C (p.Ile1311=) c.3600T>C (p.Ile1200=) c.3681T>C (p.Ile1227=) n.1256T>C c.3699T>C (p.Ile1233=) n.4072T>C n.799T>C c.2868T>C (p.Ile956=) c.2643T>C (p.Ile881=) c.3738T>C (p.Ile1246=) c.1711T>C c.*1034T>C (n.*1034T>C) n.4677T>C n.3278T>C c.3789T>C (p.Ile1263=) c.3837T>C (p.Ile1279=) c.3897T>C (p.Ile1299=) c.3447T>C (p.Ile1149=) c.1749T>C (p.Ile583=) c.1566T>C (p.Ile522=) c.3798T>C (p.Ile1266=) c.3750T>C (p.Ile1250=) c.3519T>C (p.Ile1173=) c.3420T>C (p.Ile1140=) c.2601T>C (p.Ile867=) n.4152T>C | gnomAD v4 |
13 | g.51937364A>T | CA484024247 | ATP7B | c.*1583T>A (n.*1583T>A) c.*2677T>A (n.*2677T>A) c.3312T>A (p.Ile1104=) c.3933T>A (p.Ile1311=) c.3600T>A (p.Ile1200=) c.3681T>A (p.Ile1227=) n.1256T>A c.3699T>A (p.Ile1233=) n.4072T>A n.799T>A c.2868T>A (p.Ile956=) c.2643T>A (p.Ile881=) c.3738T>A (p.Ile1246=) c.1711T>A c.*1034T>A (n.*1034T>A) n.4677T>A n.3278T>A c.3789T>A (p.Ile1263=) c.3837T>A (p.Ile1279=) c.3897T>A (p.Ile1299=) c.3447T>A (p.Ile1149=) c.1749T>A (p.Ile583=) c.1566T>A (p.Ile522=) c.3798T>A (p.Ile1266=) c.3750T>A (p.Ile1250=) c.3519T>A (p.Ile1173=) c.3420T>A (p.Ile1140=) c.2601T>A (p.Ile867=) n.4152T>A | |
13 | g.51937365A>C | CA388021174 | ATP7B | c.*1582T>G (n.*1582T>G) c.*2676T>G (n.*2676T>G) c.3311T>G (p.Ile1104Ser) c.3932T>G (p.Ile1311Ser) c.3599T>G (p.Ile1200Ser) c.3680T>G (p.Ile1227Ser) n.1255T>G c.3698T>G (p.Ile1233Ser) n.4071T>G n.798T>G c.2867T>G (p.Ile956Ser) c.2642T>G (p.Ile881Ser) c.3737T>G (p.Ile1246Ser) c.1710T>G c.*1033T>G (n.*1033T>G) n.4676T>G n.3277T>G c.3788T>G (p.Ile1263Ser) c.3836T>G (p.Ile1279Ser) c.3896T>G (p.Ile1299Ser) c.3446T>G (p.Ile1149Ser) c.1748T>G (p.Ile583Ser) c.1565T>G (p.Ile522Ser) c.3797T>G (p.Ile1266Ser) c.3749T>G (p.Ile1250Ser) c.3518T>G (p.Ile1173Ser) c.3419T>G (p.Ile1140Ser) c.2600T>G (p.Ile867Ser) n.4151T>G | ClinVar dbSNP |
13 | g.51937365A>G | CA388021175 | ATP7B | c.*1582T>C (n.*1582T>C) c.*2676T>C (n.*2676T>C) c.3311T>C (p.Ile1104Thr) c.3932T>C (p.Ile1311Thr) c.3599T>C (p.Ile1200Thr) c.3680T>C (p.Ile1227Thr) n.1255T>C c.3698T>C (p.Ile1233Thr) n.4071T>C n.798T>C c.2867T>C (p.Ile956Thr) c.2642T>C (p.Ile881Thr) c.3737T>C (p.Ile1246Thr) c.1710T>C c.*1033T>C (n.*1033T>C) n.4676T>C n.3277T>C c.3788T>C (p.Ile1263Thr) c.3836T>C (p.Ile1279Thr) c.3896T>C (p.Ile1299Thr) c.3446T>C (p.Ile1149Thr) c.1748T>C (p.Ile583Thr) c.1565T>C (p.Ile522Thr) c.3797T>C (p.Ile1266Thr) c.3749T>C (p.Ile1250Thr) c.3518T>C (p.Ile1173Thr) c.3419T>C (p.Ile1140Thr) c.2600T>C (p.Ile867Thr) n.4151T>C | |
13 | g.51937365A>T | CA388021176 | ATP7B | c.*1582T>A (n.*1582T>A) c.*2676T>A (n.*2676T>A) c.3311T>A (p.Ile1104Asn) c.3932T>A (p.Ile1311Asn) c.3599T>A (p.Ile1200Asn) c.3680T>A (p.Ile1227Asn) n.1255T>A c.3698T>A (p.Ile1233Asn) n.4071T>A n.798T>A c.2867T>A (p.Ile956Asn) c.2642T>A (p.Ile881Asn) c.3737T>A (p.Ile1246Asn) c.1710T>A c.*1033T>A (n.*1033T>A) n.4676T>A n.3277T>A c.3788T>A (p.Ile1263Asn) c.3836T>A (p.Ile1279Asn) c.3896T>A (p.Ile1299Asn) c.3446T>A (p.Ile1149Asn) c.1748T>A (p.Ile583Asn) c.1565T>A (p.Ile522Asn) c.3797T>A (p.Ile1266Asn) c.3749T>A (p.Ile1250Asn) c.3518T>A (p.Ile1173Asn) c.3419T>A (p.Ile1140Asn) c.2600T>A (p.Ile867Asn) n.4151T>A | |
13 | g.51937366T>A | CA388021178 | ATP7B | c.*1581A>T (n.*1581A>T) c.*2675A>T (n.*2675A>T) c.3310A>T (p.Ile1104Phe) c.3931A>T (p.Ile1311Phe) c.3598A>T (p.Ile1200Phe) c.3679A>T (p.Ile1227Phe) n.1254A>T c.3697A>T (p.Ile1233Phe) n.4070A>T n.797A>T c.2866A>T (p.Ile956Phe) c.2641A>T (p.Ile881Phe) c.3736A>T (p.Ile1246Phe) c.1709A>T c.*1032A>T (n.*1032A>T) n.4675A>T n.3276A>T c.3787A>T (p.Ile1263Phe) c.3835A>T (p.Ile1279Phe) c.3895A>T (p.Ile1299Phe) c.3445A>T (p.Ile1149Phe) c.1747A>T (p.Ile583Phe) c.1564A>T (p.Ile522Phe) c.3796A>T (p.Ile1266Phe) c.3748A>T (p.Ile1250Phe) c.3517A>T (p.Ile1173Phe) c.3418A>T (p.Ile1140Phe) c.2599A>T (p.Ile867Phe) n.4150A>T | |
13 | g.51937366T>C | CA388021179 | ATP7B | c.*1581A>G (n.*1581A>G) c.*2675A>G (n.*2675A>G) c.3310A>G (p.Ile1104Val) c.3931A>G (p.Ile1311Val) c.3598A>G (p.Ile1200Val) c.3679A>G (p.Ile1227Val) n.1254A>G c.3697A>G (p.Ile1233Val) n.4070A>G n.797A>G c.2866A>G (p.Ile956Val) c.2641A>G (p.Ile881Val) c.3736A>G (p.Ile1246Val) c.1709A>G c.*1032A>G (n.*1032A>G) n.4675A>G n.3276A>G c.3787A>G (p.Ile1263Val) c.3835A>G (p.Ile1279Val) c.3895A>G (p.Ile1299Val) c.3445A>G (p.Ile1149Val) c.1747A>G (p.Ile583Val) c.1564A>G (p.Ile522Val) c.3796A>G (p.Ile1266Val) c.3748A>G (p.Ile1250Val) c.3517A>G (p.Ile1173Val) c.3418A>G (p.Ile1140Val) c.2599A>G (p.Ile867Val) n.4150A>G | |
13 | g.51937366T>G | CA388021181 | ATP7B | c.*1581A>C (n.*1581A>C) c.*2675A>C (n.*2675A>C) c.3310A>C (p.Ile1104Leu) c.3931A>C (p.Ile1311Leu) c.3598A>C (p.Ile1200Leu) c.3679A>C (p.Ile1227Leu) n.1254A>C c.3697A>C (p.Ile1233Leu) n.4070A>C n.797A>C c.2866A>C (p.Ile956Leu) c.2641A>C (p.Ile881Leu) c.3736A>C (p.Ile1246Leu) c.1709A>C c.*1032A>C (n.*1032A>C) n.4675A>C n.3276A>C c.3787A>C (p.Ile1263Leu) c.3835A>C (p.Ile1279Leu) c.3895A>C (p.Ile1299Leu) c.3445A>C (p.Ile1149Leu) c.1747A>C (p.Ile583Leu) c.1564A>C (p.Ile522Leu) c.3796A>C (p.Ile1266Leu) c.3748A>C (p.Ile1250Leu) c.3517A>C (p.Ile1173Leu) c.3418A>C (p.Ile1140Leu) c.2599A>C (p.Ile867Leu) n.4150A>C | |
13 | g.51937366_51937369del | CA2623119089 | ATP7B | c.*1578_*1581del (n.*1578_*1581del) c.*2672_*2675del (n.*2672_*2675del) c.3307_3310del (p.Ser1103PhefsTer19) c.3928_3931del (p.Ser1310PhefsTer19) c.3595_3598del (p.Ser1199PhefsTer19) c.3676_3679del (p.Ser1226PhefsTer19) n.1251_1254del c.3694_3697del (p.Ser1232PhefsTer19) n.4067_4070del n.794_797del c.2863_2866del (p.Ser955PhefsTer19) c.2638_2641del (p.Ser880PhefsTer19) c.3733_3736del (p.Ser1245PhefsTer19) c.1706_1709del c.*1029_*1032del (n.*1029_*1032del) n.4672_4675del n.3273_3276del c.3784_3787del (p.Ser1262PhefsTer19) c.3832_3835del (p.Ser1278PhefsTer19) c.3892_3895del (p.Ser1298PhefsTer19) c.3442_3445del (p.Ser1148PhefsTer19) c.1744_1747del (p.Ser582PhefsTer19) c.1561_1564del (p.Ser521PhefsTer19) c.3793_3796del (p.Ser1265PhefsTer19) c.3745_3748del (p.Ser1249PhefsTer19) c.3514_3517del (p.Ser1172PhefsTer19) c.3415_3418del (p.Ser1139PhefsTer19) c.2596_2599del (p.Ser866PhefsTer19) n.4147_4150del | gnomAD v4 |
13 | g.51937367G>A | CA484024248 | ATP7B | c.*1580C>T (n.*1580C>T) c.*2674C>T (n.*2674C>T) c.3309C>T (p.Ser1103=) c.3930C>T (p.Ser1310=) c.3597C>T (p.Ser1199=) c.3678C>T (p.Ser1226=) n.1253C>T c.3696C>T (p.Ser1232=) n.4069C>T n.796C>T c.2865C>T (p.Ser955=) c.2640C>T (p.Ser880=) c.3735C>T (p.Ser1245=) c.1708C>T c.*1031C>T (n.*1031C>T) n.4674C>T n.3275C>T c.3786C>T (p.Ser1262=) c.3834C>T (p.Ser1278=) c.3894C>T (p.Ser1298=) c.3444C>T (p.Ser1148=) c.1746C>T (p.Ser582=) c.1563C>T (p.Ser521=) c.3795C>T (p.Ser1265=) c.3747C>T (p.Ser1249=) c.3516C>T (p.Ser1172=) c.3417C>T (p.Ser1139=) c.2598C>T (p.Ser866=) n.4149C>T | |
13 | g.51937367G>C | CA6988532 | ATP7B | c.*1580C>G (n.*1580C>G) c.*2674C>G (n.*2674C>G) c.3309C>G (p.Ser1103Arg) c.3930C>G (p.Ser1310Arg) c.3597C>G (p.Ser1199Arg) c.3678C>G (p.Ser1226Arg) n.1253C>G c.3696C>G (p.Ser1232Arg) n.4069C>G n.796C>G c.2865C>G (p.Ser955Arg) c.2640C>G (p.Ser880Arg) c.3735C>G (p.Ser1245Arg) c.1708C>G c.*1031C>G (n.*1031C>G) n.4674C>G n.3275C>G c.3786C>G (p.Ser1262Arg) c.3834C>G (p.Ser1278Arg) c.3894C>G (p.Ser1298Arg) c.3444C>G (p.Ser1148Arg) c.1746C>G (p.Ser582Arg) c.1563C>G (p.Ser521Arg) c.3795C>G (p.Ser1265Arg) c.3747C>G (p.Ser1249Arg) c.3516C>G (p.Ser1172Arg) c.3417C>G (p.Ser1139Arg) c.2598C>G (p.Ser866Arg) n.4149C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937367G= | CA2091553506 | ATP7B | c.*1580C= (n.*1580C=) c.*2674C= (n.*2674C=) c.3309C= (p.Ser1103=) c.3930C= (p.Ser1310=) c.3597C= (p.Ser1199=) c.3678C= (p.Ser1226=) n.1253C= c.3696C= (p.Ser1232=) n.4069C= n.796C= c.2865C= (p.Ser955=) c.2640C= (p.Ser880=) c.3735C= (p.Ser1245=) c.1708C= c.*1031C= (n.*1031C=) n.4674C= n.3275C= c.3786C= (p.Ser1262=) c.3834C= (p.Ser1278=) c.3894C= (p.Ser1298=) c.3444C= (p.Ser1148=) c.1746C= (p.Ser582=) c.1563C= (p.Ser521=) c.3795C= (p.Ser1265=) c.3747C= (p.Ser1249=) c.3516C= (p.Ser1172=) c.3417C= (p.Ser1139=) c.2598C= (p.Ser866=) n.4149C= | |
13 | g.51937367G>T | CA388021183 | ATP7B | c.*1580C>A (n.*1580C>A) c.*2674C>A (n.*2674C>A) c.3309C>A (p.Ser1103Arg) c.3930C>A (p.Ser1310Arg) c.3597C>A (p.Ser1199Arg) c.3678C>A (p.Ser1226Arg) n.1253C>A c.3696C>A (p.Ser1232Arg) n.4069C>A n.796C>A c.2865C>A (p.Ser955Arg) c.2640C>A (p.Ser880Arg) c.3735C>A (p.Ser1245Arg) c.1708C>A c.*1031C>A (n.*1031C>A) n.4674C>A n.3275C>A c.3786C>A (p.Ser1262Arg) c.3834C>A (p.Ser1278Arg) c.3894C>A (p.Ser1298Arg) c.3444C>A (p.Ser1148Arg) c.1746C>A (p.Ser582Arg) c.1563C>A (p.Ser521Arg) c.3795C>A (p.Ser1265Arg) c.3747C>A (p.Ser1249Arg) c.3516C>A (p.Ser1172Arg) c.3417C>A (p.Ser1139Arg) c.2598C>A (p.Ser866Arg) n.4149C>A | |
13 | g.51937368C>A | CA250073402 | ATP7B | c.*1579G>T (n.*1579G>T) c.*2673G>T (n.*2673G>T) c.3308G>T (p.Ser1103Ile) c.3929G>T (p.Ser1310Ile) c.3596G>T (p.Ser1199Ile) c.3677G>T (p.Ser1226Ile) n.1252G>T c.3695G>T (p.Ser1232Ile) n.4068G>T n.795G>T c.2864G>T (p.Ser955Ile) c.2639G>T (p.Ser880Ile) c.3734G>T (p.Ser1245Ile) c.1707G>T c.*1030G>T (n.*1030G>T) n.4673G>T n.3274G>T c.3785G>T (p.Ser1262Ile) c.3833G>T (p.Ser1278Ile) c.3893G>T (p.Ser1298Ile) c.3443G>T (p.Ser1148Ile) c.1745G>T (p.Ser582Ile) c.1562G>T (p.Ser521Ile) c.3794G>T (p.Ser1265Ile) c.3746G>T (p.Ser1249Ile) c.3515G>T (p.Ser1172Ile) c.3416G>T (p.Ser1139Ile) c.2597G>T (p.Ser866Ile) n.4148G>T | dbSNP gnomAD v4 |
13 | g.51937368C= | CA2091553511 | ATP7B | c.*1579G= (n.*1579G=) c.*2673G= (n.*2673G=) c.3308G= (p.Ser1103=) c.3929G= (p.Ser1310=) c.3596G= (p.Ser1199=) c.3677G= (p.Ser1226=) n.1252G= c.3695G= (p.Ser1232=) n.4068G= n.795G= c.2864G= (p.Ser955=) c.2639G= (p.Ser880=) c.3734G= (p.Ser1245=) c.1707G= c.*1030G= (n.*1030G=) n.4673G= n.3274G= c.3785G= (p.Ser1262=) c.3833G= (p.Ser1278=) c.3893G= (p.Ser1298=) c.3443G= (p.Ser1148=) c.1745G= (p.Ser582=) c.1562G= (p.Ser521=) c.3794G= (p.Ser1265=) c.3746G= (p.Ser1249=) c.3515G= (p.Ser1172=) c.3416G= (p.Ser1139=) c.2597G= (p.Ser866=) n.4148G= | |
13 | g.51937368C>G | CA6988533 | ATP7B | c.*1579G>C (n.*1579G>C) c.*2673G>C (n.*2673G>C) c.3308G>C (p.Ser1103Thr) c.3929G>C (p.Ser1310Thr) c.3596G>C (p.Ser1199Thr) c.3677G>C (p.Ser1226Thr) n.1252G>C c.3695G>C (p.Ser1232Thr) n.4068G>C n.795G>C c.2864G>C (p.Ser955Thr) c.2639G>C (p.Ser880Thr) c.3734G>C (p.Ser1245Thr) c.1707G>C c.*1030G>C (n.*1030G>C) n.4673G>C n.3274G>C c.3785G>C (p.Ser1262Thr) c.3833G>C (p.Ser1278Thr) c.3893G>C (p.Ser1298Thr) c.3443G>C (p.Ser1148Thr) c.1745G>C (p.Ser582Thr) c.1562G>C (p.Ser521Thr) c.3794G>C (p.Ser1265Thr) c.3746G>C (p.Ser1249Thr) c.3515G>C (p.Ser1172Thr) c.3416G>C (p.Ser1139Thr) c.2597G>C (p.Ser866Thr) n.4148G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.51937368C>T | CA388021185 | ATP7B | c.*1579G>A (n.*1579G>A) c.*2673G>A (n.*2673G>A) c.3308G>A (p.Ser1103Asn) c.3929G>A (p.Ser1310Asn) c.3596G>A (p.Ser1199Asn) c.3677G>A (p.Ser1226Asn) n.1252G>A c.3695G>A (p.Ser1232Asn) n.4068G>A n.795G>A c.2864G>A (p.Ser955Asn) c.2639G>A (p.Ser880Asn) c.3734G>A (p.Ser1245Asn) c.1707G>A c.*1030G>A (n.*1030G>A) n.4673G>A n.3274G>A c.3785G>A (p.Ser1262Asn) c.3833G>A (p.Ser1278Asn) c.3893G>A (p.Ser1298Asn) c.3443G>A (p.Ser1148Asn) c.1745G>A (p.Ser582Asn) c.1562G>A (p.Ser521Asn) c.3794G>A (p.Ser1265Asn) c.3746G>A (p.Ser1249Asn) c.3515G>A (p.Ser1172Asn) c.3416G>A (p.Ser1139Asn) c.2597G>A (p.Ser866Asn) n.4148G>A | ClinVar gnomAD v4 |
13 | g.51937369T>A | CA388021187 | ATP7B | c.*1578A>T (n.*1578A>T) c.*2672A>T (n.*2672A>T) c.3307A>T (p.Ser1103Cys) c.3928A>T (p.Ser1310Cys) c.3595A>T (p.Ser1199Cys) c.3676A>T (p.Ser1226Cys) n.1251A>T c.3694A>T (p.Ser1232Cys) n.4067A>T n.794A>T c.2863A>T (p.Ser955Cys) c.2638A>T (p.Ser880Cys) c.3733A>T (p.Ser1245Cys) c.1706A>T c.*1029A>T (n.*1029A>T) n.4672A>T n.3273A>T c.3784A>T (p.Ser1262Cys) c.3832A>T (p.Ser1278Cys) c.3892A>T (p.Ser1298Cys) c.3442A>T (p.Ser1148Cys) c.1744A>T (p.Ser582Cys) c.1561A>T (p.Ser521Cys) c.3793A>T (p.Ser1265Cys) c.3745A>T (p.Ser1249Cys) c.3514A>T (p.Ser1172Cys) c.3415A>T (p.Ser1139Cys) c.2596A>T (p.Ser866Cys) n.4147A>T | |
13 | g.51937369T>C | CA388021189 | ATP7B | c.*1578A>G (n.*1578A>G) c.*2672A>G (n.*2672A>G) c.3307A>G (p.Ser1103Gly) c.3928A>G (p.Ser1310Gly) c.3595A>G (p.Ser1199Gly) c.3676A>G (p.Ser1226Gly) n.1251A>G c.3694A>G (p.Ser1232Gly) n.4067A>G n.794A>G c.2863A>G (p.Ser955Gly) c.2638A>G (p.Ser880Gly) c.3733A>G (p.Ser1245Gly) c.1706A>G c.*1029A>G (n.*1029A>G) n.4672A>G n.3273A>G c.3784A>G (p.Ser1262Gly) c.3832A>G (p.Ser1278Gly) c.3892A>G (p.Ser1298Gly) c.3442A>G (p.Ser1148Gly) c.1744A>G (p.Ser582Gly) c.1561A>G (p.Ser521Gly) c.3793A>G (p.Ser1265Gly) c.3745A>G (p.Ser1249Gly) c.3514A>G (p.Ser1172Gly) c.3415A>G (p.Ser1139Gly) c.2596A>G (p.Ser866Gly) n.4147A>G | ClinVar dbSNP |
13 | g.51937369T>G | CA388021190 | ATP7B | c.*1578A>C (n.*1578A>C) c.*2672A>C (n.*2672A>C) c.3307A>C (p.Ser1103Arg) c.3928A>C (p.Ser1310Arg) c.3595A>C (p.Ser1199Arg) c.3676A>C (p.Ser1226Arg) n.1251A>C c.3694A>C (p.Ser1232Arg) n.4067A>C n.794A>C c.2863A>C (p.Ser955Arg) c.2638A>C (p.Ser880Arg) c.3733A>C (p.Ser1245Arg) c.1706A>C c.*1029A>C (n.*1029A>C) n.4672A>C n.3273A>C c.3784A>C (p.Ser1262Arg) c.3832A>C (p.Ser1278Arg) c.3892A>C (p.Ser1298Arg) c.3442A>C (p.Ser1148Arg) c.1744A>C (p.Ser582Arg) c.1561A>C (p.Ser521Arg) c.3793A>C (p.Ser1265Arg) c.3745A>C (p.Ser1249Arg) c.3514A>C (p.Ser1172Arg) c.3415A>C (p.Ser1139Arg) c.2596A>C (p.Ser866Arg) n.4147A>C | |
13 | g.51937369T= | CA2091553512 | ATP7B | c.*1578A= (n.*1578A=) c.*2672A= (n.*2672A=) c.3307A= (p.Ser1103=) c.3928A= (p.Ser1310=) c.3595A= (p.Ser1199=) c.3676A= (p.Ser1226=) n.1251A= c.3694A= (p.Ser1232=) n.4067A= n.794A= c.2863A= (p.Ser955=) c.2638A= (p.Ser880=) c.3733A= (p.Ser1245=) c.1706A= c.*1029A= (n.*1029A=) n.4672A= n.3273A= c.3784A= (p.Ser1262=) c.3832A= (p.Ser1278=) c.3892A= (p.Ser1298=) c.3442A= (p.Ser1148=) c.1744A= (p.Ser582=) c.1561A= (p.Ser521=) c.3793A= (p.Ser1265=) c.3745A= (p.Ser1249=) c.3514A= (p.Ser1172=) c.3415A= (p.Ser1139=) c.2596A= (p.Ser866=) n.4147A= | |
13 | g.51937370A>C | CA484024250 | ATP7B | c.*1577T>G (n.*1577T>G) c.*2671T>G (n.*2671T>G) c.3306T>G (p.Ala1102=) c.3927T>G (p.Ala1309=) c.3594T>G (p.Ala1198=) c.3675T>G (p.Ala1225=) n.1250T>G c.3693T>G (p.Ala1231=) n.4066T>G n.793T>G c.2862T>G (p.Ala954=) c.2637T>G (p.Ala879=) c.3732T>G (p.Ala1244=) c.1705T>G c.*1028T>G (n.*1028T>G) n.4671T>G n.3272T>G c.3783T>G (p.Ala1261=) c.3831T>G (p.Ala1277=) c.3891T>G (p.Ala1297=) c.3441T>G (p.Ala1147=) c.1743T>G (p.Ala581=) c.1560T>G (p.Ala520=) c.3792T>G (p.Ala1264=) c.3744T>G (p.Ala1248=) c.3513T>G (p.Ala1171=) c.3414T>G (p.Ala1138=) c.2595T>G (p.Ala865=) n.4146T>G | |
13 | g.51937370A>G | CA484024251 | ATP7B | c.*1577T>C (n.*1577T>C) c.*2671T>C (n.*2671T>C) c.3306T>C (p.Ala1102=) c.3927T>C (p.Ala1309=) c.3594T>C (p.Ala1198=) c.3675T>C (p.Ala1225=) n.1250T>C c.3693T>C (p.Ala1231=) n.4066T>C n.793T>C c.2862T>C (p.Ala954=) c.2637T>C (p.Ala879=) c.3732T>C (p.Ala1244=) c.1705T>C c.*1028T>C (n.*1028T>C) n.4671T>C n.3272T>C c.3783T>C (p.Ala1261=) c.3831T>C (p.Ala1277=) c.3891T>C (p.Ala1297=) c.3441T>C (p.Ala1147=) c.1743T>C (p.Ala581=) c.1560T>C (p.Ala520=) c.3792T>C (p.Ala1264=) c.3744T>C (p.Ala1248=) c.3513T>C (p.Ala1171=) c.3414T>C (p.Ala1138=) c.2595T>C (p.Ala865=) n.4146T>C | gnomAD v4 |
13 | g.51937370A>T | CA484024249 | ATP7B | c.*1577T>A (n.*1577T>A) c.*2671T>A (n.*2671T>A) c.3306T>A (p.Ala1102=) c.3927T>A (p.Ala1309=) c.3594T>A (p.Ala1198=) c.3675T>A (p.Ala1225=) n.1250T>A c.3693T>A (p.Ala1231=) n.4066T>A n.793T>A c.2862T>A (p.Ala954=) c.2637T>A (p.Ala879=) c.3732T>A (p.Ala1244=) c.1705T>A c.*1028T>A (n.*1028T>A) n.4671T>A n.3272T>A c.3783T>A (p.Ala1261=) c.3831T>A (p.Ala1277=) c.3891T>A (p.Ala1297=) c.3441T>A (p.Ala1147=) c.1743T>A (p.Ala581=) c.1560T>A (p.Ala520=) c.3792T>A (p.Ala1264=) c.3744T>A (p.Ala1248=) c.3513T>A (p.Ala1171=) c.3414T>A (p.Ala1138=) c.2595T>A (p.Ala865=) n.4146T>A | |
13 | g.51937371G>A | CA388021192 | ATP7B | c.*1576C>T (n.*1576C>T) c.*2670C>T (n.*2670C>T) c.3305C>T (p.Ala1102Val) c.3926C>T (p.Ala1309Val) c.3593C>T (p.Ala1198Val) c.3674C>T (p.Ala1225Val) n.1249C>T c.3692C>T (p.Ala1231Val) n.4065C>T n.792C>T c.2861C>T (p.Ala954Val) c.2636C>T (p.Ala879Val) c.3731C>T (p.Ala1244Val) c.1704C>T c.*1027C>T (n.*1027C>T) n.4670C>T n.3271C>T c.3782C>T (p.Ala1261Val) c.3830C>T (p.Ala1277Val) c.3890C>T (p.Ala1297Val) c.3440C>T (p.Ala1147Val) c.1742C>T (p.Ala581Val) c.1559C>T (p.Ala520Val) c.3791C>T (p.Ala1264Val) c.3743C>T (p.Ala1248Val) c.3512C>T (p.Ala1171Val) c.3413C>T (p.Ala1138Val) c.2594C>T (p.Ala865Val) n.4145C>T | ClinVar |
13 | g.51937371G>C | CA388021194 | ATP7B | c.*1576C>G (n.*1576C>G) c.*2670C>G (n.*2670C>G) c.3305C>G (p.Ala1102Gly) c.3926C>G (p.Ala1309Gly) c.3593C>G (p.Ala1198Gly) c.3674C>G (p.Ala1225Gly) n.1249C>G c.3692C>G (p.Ala1231Gly) n.4065C>G n.792C>G c.2861C>G (p.Ala954Gly) c.2636C>G (p.Ala879Gly) c.3731C>G (p.Ala1244Gly) c.1704C>G c.*1027C>G (n.*1027C>G) n.4670C>G n.3271C>G c.3782C>G (p.Ala1261Gly) c.3830C>G (p.Ala1277Gly) c.3890C>G (p.Ala1297Gly) c.3440C>G (p.Ala1147Gly) c.1742C>G (p.Ala581Gly) c.1559C>G (p.Ala520Gly) c.3791C>G (p.Ala1264Gly) c.3743C>G (p.Ala1248Gly) c.3512C>G (p.Ala1171Gly) c.3413C>G (p.Ala1138Gly) c.2594C>G (p.Ala865Gly) n.4145C>G | |
13 | g.51937371G>T | CA388021196 | ATP7B | c.*1576C>A (n.*1576C>A) c.*2670C>A (n.*2670C>A) c.3305C>A (p.Ala1102Asp) c.3926C>A (p.Ala1309Asp) c.3593C>A (p.Ala1198Asp) c.3674C>A (p.Ala1225Asp) n.1249C>A c.3692C>A (p.Ala1231Asp) n.4065C>A n.792C>A c.2861C>A (p.Ala954Asp) c.2636C>A (p.Ala879Asp) c.3731C>A (p.Ala1244Asp) c.1704C>A c.*1027C>A (n.*1027C>A) n.4670C>A n.3271C>A c.3782C>A (p.Ala1261Asp) c.3830C>A (p.Ala1277Asp) c.3890C>A (p.Ala1297Asp) c.3440C>A (p.Ala1147Asp) c.1742C>A (p.Ala581Asp) c.1559C>A (p.Ala520Asp) c.3791C>A (p.Ala1264Asp) c.3743C>A (p.Ala1248Asp) c.3512C>A (p.Ala1171Asp) c.3413C>A (p.Ala1138Asp) c.2594C>A (p.Ala865Asp) n.4145C>A | |
13 | g.51937372C>A | CA388021197 | ATP7B | c.*1575G>T (n.*1575G>T) c.*2669G>T (n.*2669G>T) c.3304G>T (p.Ala1102Ser) c.3925G>T (p.Ala1309Ser) c.3592G>T (p.Ala1198Ser) c.3673G>T (p.Ala1225Ser) n.1248G>T c.3691G>T (p.Ala1231Ser) n.4064G>T n.791G>T c.2860G>T (p.Ala954Ser) c.2635G>T (p.Ala879Ser) c.3730G>T (p.Ala1244Ser) c.1703G>T c.*1026G>T (n.*1026G>T) n.4669G>T n.3270G>T c.3781G>T (p.Ala1261Ser) c.3829G>T (p.Ala1277Ser) c.3889G>T (p.Ala1297Ser) c.3439G>T (p.Ala1147Ser) c.1741G>T (p.Ala581Ser) c.1558G>T (p.Ala520Ser) c.3790G>T (p.Ala1264Ser) c.3742G>T (p.Ala1248Ser) c.3511G>T (p.Ala1171Ser) c.3412G>T (p.Ala1138Ser) c.2593G>T (p.Ala865Ser) n.4144G>T | |
13 | g.51937372C>G | CA388021198 | ATP7B | c.*1575G>C (n.*1575G>C) c.*2669G>C (n.*2669G>C) c.3304G>C (p.Ala1102Pro) c.3925G>C (p.Ala1309Pro) c.3592G>C (p.Ala1198Pro) c.3673G>C (p.Ala1225Pro) n.1248G>C c.3691G>C (p.Ala1231Pro) n.4064G>C n.791G>C c.2860G>C (p.Ala954Pro) c.2635G>C (p.Ala879Pro) c.3730G>C (p.Ala1244Pro) c.1703G>C c.*1026G>C (n.*1026G>C) n.4669G>C n.3270G>C c.3781G>C (p.Ala1261Pro) c.3829G>C (p.Ala1277Pro) c.3889G>C (p.Ala1297Pro) c.3439G>C (p.Ala1147Pro) c.1741G>C (p.Ala581Pro) c.1558G>C (p.Ala520Pro) c.3790G>C (p.Ala1264Pro) c.3742G>C (p.Ala1248Pro) c.3511G>C (p.Ala1171Pro) c.3412G>C (p.Ala1138Pro) c.2593G>C (p.Ala865Pro) n.4144G>C | ClinVar |
13 | g.51937372C>T | CA388021199 | ATP7B | c.*1575G>A (n.*1575G>A) c.*2669G>A (n.*2669G>A) c.3304G>A (p.Ala1102Thr) c.3925G>A (p.Ala1309Thr) c.3592G>A (p.Ala1198Thr) c.3673G>A (p.Ala1225Thr) n.1248G>A c.3691G>A (p.Ala1231Thr) n.4064G>A n.791G>A c.2860G>A (p.Ala954Thr) c.2635G>A (p.Ala879Thr) c.3730G>A (p.Ala1244Thr) c.1703G>A c.*1026G>A (n.*1026G>A) n.4669G>A n.3270G>A c.3781G>A (p.Ala1261Thr) c.3829G>A (p.Ala1277Thr) c.3889G>A (p.Ala1297Thr) c.3439G>A (p.Ala1147Thr) c.1741G>A (p.Ala581Thr) c.1558G>A (p.Ala520Thr) c.3790G>A (p.Ala1264Thr) c.3742G>A (p.Ala1248Thr) c.3511G>A (p.Ala1171Thr) c.3412G>A (p.Ala1138Thr) c.2593G>A (p.Ala865Thr) n.4144G>A | |
13 | g.51937373C>A | CA484024254 | ATP7B | c.*1574G>T (n.*1574G>T) c.*2668G>T (n.*2668G>T) c.3303G>T (p.Val1101=) c.3924G>T (p.Val1308=) c.3591G>T (p.Val1197=) c.3672G>T (p.Val1224=) n.1247G>T c.3690G>T (p.Val1230=) n.4063G>T n.790G>T c.2859G>T (p.Val953=) c.2634G>T (p.Val878=) c.3729G>T (p.Val1243=) c.1702G>T c.*1025G>T (n.*1025G>T) n.4668G>T n.3269G>T c.3780G>T (p.Val1260=) c.3828G>T (p.Val1276=) c.3888G>T (p.Val1296=) c.3438G>T (p.Val1146=) c.1740G>T (p.Val580=) c.1557G>T (p.Val519=) c.3789G>T (p.Val1263=) c.3741G>T (p.Val1247=) c.3510G>T (p.Val1170=) c.3411G>T (p.Val1137=) c.2592G>T (p.Val864=) n.4143G>T | |
13 | g.51937373C>G | CA484024253 | ATP7B | c.*1574G>C (n.*1574G>C) c.*2668G>C (n.*2668G>C) c.3303G>C (p.Val1101=) c.3924G>C (p.Val1308=) c.3591G>C (p.Val1197=) c.3672G>C (p.Val1224=) n.1247G>C c.3690G>C (p.Val1230=) n.4063G>C n.790G>C c.2859G>C (p.Val953=) c.2634G>C (p.Val878=) c.3729G>C (p.Val1243=) c.1702G>C c.*1025G>C (n.*1025G>C) n.4668G>C n.3269G>C c.3780G>C (p.Val1260=) c.3828G>C (p.Val1276=) c.3888G>C (p.Val1296=) c.3438G>C (p.Val1146=) c.1740G>C (p.Val580=) c.1557G>C (p.Val519=) c.3789G>C (p.Val1263=) c.3741G>C (p.Val1247=) c.3510G>C (p.Val1170=) c.3411G>C (p.Val1137=) c.2592G>C (p.Val864=) n.4143G>C | |
13 | g.51937373C>T | CA484024252 | ATP7B | c.*1574G>A (n.*1574G>A) c.*2668G>A (n.*2668G>A) c.3303G>A (p.Val1101=) c.3924G>A (p.Val1308=) c.3591G>A (p.Val1197=) c.3672G>A (p.Val1224=) n.1247G>A c.3690G>A (p.Val1230=) n.4063G>A n.790G>A c.2859G>A (p.Val953=) c.2634G>A (p.Val878=) c.3729G>A (p.Val1243=) c.1702G>A c.*1025G>A (n.*1025G>A) n.4668G>A n.3269G>A c.3780G>A (p.Val1260=) c.3828G>A (p.Val1276=) c.3888G>A (p.Val1296=) c.3438G>A (p.Val1146=) c.1740G>A (p.Val580=) c.1557G>A (p.Val519=) c.3789G>A (p.Val1263=) c.3741G>A (p.Val1247=) c.3510G>A (p.Val1170=) c.3411G>A (p.Val1137=) c.2592G>A (p.Val864=) n.4143G>A | gnomAD v4 |
13 | g.51937374A>C | CA388021201 | ATP7B | c.*1573T>G (n.*1573T>G) c.*2667T>G (n.*2667T>G) c.3302T>G (p.Val1101Gly) c.3923T>G (p.Val1308Gly) c.3590T>G (p.Val1197Gly) c.3671T>G (p.Val1224Gly) n.1246T>G c.3689T>G (p.Val1230Gly) n.4062T>G n.789T>G c.2858T>G (p.Val953Gly) c.2633T>G (p.Val878Gly) c.3728T>G (p.Val1243Gly) c.1701T>G c.*1024T>G (n.*1024T>G) n.4667T>G n.3268T>G c.3779T>G (p.Val1260Gly) c.3827T>G (p.Val1276Gly) c.3887T>G (p.Val1296Gly) c.3437T>G (p.Val1146Gly) c.1739T>G (p.Val580Gly) c.1556T>G (p.Val519Gly) c.3788T>G (p.Val1263Gly) c.3740T>G (p.Val1247Gly) c.3509T>G (p.Val1170Gly) c.3410T>G (p.Val1137Gly) c.2591T>G (p.Val864Gly) n.4142T>G | |
13 | g.51937374A>G | CA388021202 | ATP7B | c.*1573T>C (n.*1573T>C) c.*2667T>C (n.*2667T>C) c.3302T>C (p.Val1101Ala) c.3923T>C (p.Val1308Ala) c.3590T>C (p.Val1197Ala) c.3671T>C (p.Val1224Ala) n.1246T>C c.3689T>C (p.Val1230Ala) n.4062T>C n.789T>C c.2858T>C (p.Val953Ala) c.2633T>C (p.Val878Ala) c.3728T>C (p.Val1243Ala) c.1701T>C c.*1024T>C (n.*1024T>C) n.4667T>C n.3268T>C c.3779T>C (p.Val1260Ala) c.3827T>C (p.Val1276Ala) c.3887T>C (p.Val1296Ala) c.3437T>C (p.Val1146Ala) c.1739T>C (p.Val580Ala) c.1556T>C (p.Val519Ala) c.3788T>C (p.Val1263Ala) c.3740T>C (p.Val1247Ala) c.3509T>C (p.Val1170Ala) c.3410T>C (p.Val1137Ala) c.2591T>C (p.Val864Ala) n.4142T>C | gnomAD v4 |
13 | g.51937374A>T | CA388021204 | ATP7B | c.*1573T>A (n.*1573T>A) c.*2667T>A (n.*2667T>A) c.3302T>A (p.Val1101Glu) c.3923T>A (p.Val1308Glu) c.3590T>A (p.Val1197Glu) c.3671T>A (p.Val1224Glu) n.1246T>A c.3689T>A (p.Val1230Glu) n.4062T>A n.789T>A c.2858T>A (p.Val953Glu) c.2633T>A (p.Val878Glu) c.3728T>A (p.Val1243Glu) c.1701T>A c.*1024T>A (n.*1024T>A) n.4667T>A n.3268T>A c.3779T>A (p.Val1260Glu) c.3827T>A (p.Val1276Glu) c.3887T>A (p.Val1296Glu) c.3437T>A (p.Val1146Glu) c.1739T>A (p.Val580Glu) c.1556T>A (p.Val519Glu) c.3788T>A (p.Val1263Glu) c.3740T>A (p.Val1247Glu) c.3509T>A (p.Val1170Glu) c.3410T>A (p.Val1137Glu) c.2591T>A (p.Val864Glu) n.4142T>A | |
13 | g.51937375C>A | CA388021207 | ATP7B | c.*1572G>T (n.*1572G>T) c.*2666G>T (n.*2666G>T) c.3301G>T (p.Val1101Leu) c.3922G>T (p.Val1308Leu) c.3589G>T (p.Val1197Leu) c.3670G>T (p.Val1224Leu) n.1245G>T c.3688G>T (p.Val1230Leu) n.4061G>T n.788G>T c.2857G>T (p.Val953Leu) c.2632G>T (p.Val878Leu) c.3727G>T (p.Val1243Leu) c.1700G>T c.*1023G>T (n.*1023G>T) n.4666G>T n.3267G>T c.3778G>T (p.Val1260Leu) c.3826G>T (p.Val1276Leu) c.3886G>T (p.Val1296Leu) c.3436G>T (p.Val1146Leu) c.1738G>T (p.Val580Leu) c.1555G>T (p.Val519Leu) c.3787G>T (p.Val1263Leu) c.3739G>T (p.Val1247Leu) c.3508G>T (p.Val1170Leu) c.3409G>T (p.Val1137Leu) c.2590G>T (p.Val864Leu) n.4141G>T | |
13 | g.51937375C>G | CA388021209 | ATP7B | c.*1572G>C (n.*1572G>C) c.*2666G>C (n.*2666G>C) c.3301G>C (p.Val1101Leu) c.3922G>C (p.Val1308Leu) c.3589G>C (p.Val1197Leu) c.3670G>C (p.Val1224Leu) n.1245G>C c.3688G>C (p.Val1230Leu) n.4061G>C n.788G>C c.2857G>C (p.Val953Leu) c.2632G>C (p.Val878Leu) c.3727G>C (p.Val1243Leu) c.1700G>C c.*1023G>C (n.*1023G>C) n.4666G>C n.3267G>C c.3778G>C (p.Val1260Leu) c.3826G>C (p.Val1276Leu) c.3886G>C (p.Val1296Leu) c.3436G>C (p.Val1146Leu) c.1738G>C (p.Val580Leu) c.1555G>C (p.Val519Leu) c.3787G>C (p.Val1263Leu) c.3739G>C (p.Val1247Leu) c.3508G>C (p.Val1170Leu) c.3409G>C (p.Val1137Leu) c.2590G>C (p.Val864Leu) n.4141G>C | |
13 | g.51937375C>T | CA388021206 | ATP7B | c.*1572G>A (n.*1572G>A) c.*2666G>A (n.*2666G>A) c.3301G>A (p.Val1101Met) c.3922G>A (p.Val1308Met) c.3589G>A (p.Val1197Met) c.3670G>A (p.Val1224Met) n.1245G>A c.3688G>A (p.Val1230Met) n.4061G>A n.788G>A c.2857G>A (p.Val953Met) c.2632G>A (p.Val878Met) c.3727G>A (p.Val1243Met) c.1700G>A c.*1023G>A (n.*1023G>A) n.4666G>A n.3267G>A c.3778G>A (p.Val1260Met) c.3826G>A (p.Val1276Met) c.3886G>A (p.Val1296Met) c.3436G>A (p.Val1146Met) c.1738G>A (p.Val580Met) c.1555G>A (p.Val519Met) c.3787G>A (p.Val1263Met) c.3739G>A (p.Val1247Met) c.3508G>A (p.Val1170Met) c.3409G>A (p.Val1137Met) c.2590G>A (p.Val864Met) n.4141G>A | |
13 | g.51937376del | CA2695218739 | ATP7B | c.*1572del (n.*1572del) c.*2666del (n.*2666del) c.3301del (p.Val1101TrpfsTer22) c.3922del (p.Val1308TrpfsTer22) c.3589del (p.Val1197TrpfsTer22) c.3670del (p.Val1224TrpfsTer22) n.1245del c.3688del (p.Val1230TrpfsTer22) n.4061del n.788del c.2857del (p.Val953TrpfsTer22) c.2632del (p.Val878TrpfsTer22) c.3727del (p.Val1243TrpfsTer22) c.1700del c.*1023del (n.*1023del) n.4666del n.3267del c.3778del (p.Val1260TrpfsTer22) c.3826del (p.Val1276TrpfsTer22) c.3886del (p.Val1296TrpfsTer22) c.3436del (p.Val1146TrpfsTer22) c.1738del (p.Val580TrpfsTer22) c.1555del (p.Val519TrpfsTer22) c.3787del (p.Val1263TrpfsTer22) c.3739del (p.Val1247TrpfsTer22) c.3508del (p.Val1170TrpfsTer22) c.3409del (p.Val1137TrpfsTer22) c.2590del (p.Val864TrpfsTer22) n.4141del | |
13 | g.51937376C>A | CA484024257 | ATP7B | c.*1571G>T (n.*1571G>T) c.*2665G>T (n.*2665G>T) c.3300G>T (p.Val1100=) c.3921G>T (p.Val1307=) c.3588G>T (p.Val1196=) c.3669G>T (p.Val1223=) n.1244G>T c.3687G>T (p.Val1229=) n.4060G>T n.787G>T c.2856G>T (p.Val952=) c.2631G>T (p.Val877=) c.3726G>T (p.Val1242=) c.1699G>T c.*1022G>T (n.*1022G>T) n.4665G>T n.3266G>T c.3777G>T (p.Val1259=) c.3825G>T (p.Val1275=) c.3885G>T (p.Val1295=) c.3435G>T (p.Val1145=) c.1737G>T (p.Val579=) c.1554G>T (p.Val518=) c.3786G>T (p.Val1262=) c.3738G>T (p.Val1246=) c.3507G>T (p.Val1169=) c.3408G>T (p.Val1136=) c.2589G>T (p.Val863=) n.4140G>T | |
13 | g.51937376C= | CA2091553515 | ATP7B | c.*1571G= (n.*1571G=) c.*2665G= (n.*2665G=) c.3300G= (p.Val1100=) c.3921G= (p.Val1307=) c.3588G= (p.Val1196=) c.3669G= (p.Val1223=) n.1244G= c.3687G= (p.Val1229=) n.4060G= n.787G= c.2856G= (p.Val952=) c.2631G= (p.Val877=) c.3726G= (p.Val1242=) c.1699G= c.*1022G= (n.*1022G=) n.4665G= n.3266G= c.3777G= (p.Val1259=) c.3825G= (p.Val1275=) c.3885G= (p.Val1295=) c.3435G= (p.Val1145=) c.1737G= (p.Val579=) c.1554G= (p.Val518=) c.3786G= (p.Val1262=) c.3738G= (p.Val1246=) c.3507G= (p.Val1169=) c.3408G= (p.Val1136=) c.2589G= (p.Val863=) n.4140G= | |
13 | g.51937376C>G | CA484024255 | ATP7B | c.*1571G>C (n.*1571G>C) c.*2665G>C (n.*2665G>C) c.3300G>C (p.Val1100=) c.3921G>C (p.Val1307=) c.3588G>C (p.Val1196=) c.3669G>C (p.Val1223=) n.1244G>C c.3687G>C (p.Val1229=) n.4060G>C n.787G>C c.2856G>C (p.Val952=) c.2631G>C (p.Val877=) c.3726G>C (p.Val1242=) c.1699G>C c.*1022G>C (n.*1022G>C) n.4665G>C n.3266G>C c.3777G>C (p.Val1259=) c.3825G>C (p.Val1275=) c.3885G>C (p.Val1295=) c.3435G>C (p.Val1145=) c.1737G>C (p.Val579=) c.1554G>C (p.Val518=) c.3786G>C (p.Val1262=) c.3738G>C (p.Val1246=) c.3507G>C (p.Val1169=) c.3408G>C (p.Val1136=) c.2589G>C (p.Val863=) n.4140G>C | |
13 | g.51937376C>T | CA484024256 | ATP7B | c.*1571G>A (n.*1571G>A) c.*2665G>A (n.*2665G>A) c.3300G>A (p.Val1100=) c.3921G>A (p.Val1307=) c.3588G>A (p.Val1196=) c.3669G>A (p.Val1223=) n.1244G>A c.3687G>A (p.Val1229=) n.4060G>A n.787G>A c.2856G>A (p.Val952=) c.2631G>A (p.Val877=) c.3726G>A (p.Val1242=) c.1699G>A c.*1022G>A (n.*1022G>A) n.4665G>A n.3266G>A c.3777G>A (p.Val1259=) c.3825G>A (p.Val1275=) c.3885G>A (p.Val1295=) c.3435G>A (p.Val1145=) c.1737G>A (p.Val579=) c.1554G>A (p.Val518=) c.3786G>A (p.Val1262=) c.3738G>A (p.Val1246=) c.3507G>A (p.Val1169=) c.3408G>A (p.Val1136=) c.2589G>A (p.Val863=) n.4140G>A | dbSNP |
13 | g.51937377A>C | CA388021210 | ATP7B | c.*1570T>G (n.*1570T>G) c.*2664T>G (n.*2664T>G) c.3299T>G (p.Val1100Gly) c.3920T>G (p.Val1307Gly) c.3587T>G (p.Val1196Gly) c.3668T>G (p.Val1223Gly) n.1243T>G c.3686T>G (p.Val1229Gly) n.4059T>G n.786T>G c.2855T>G (p.Val952Gly) c.2630T>G (p.Val877Gly) c.3725T>G (p.Val1242Gly) c.1698T>G c.*1021T>G (n.*1021T>G) n.4664T>G n.3265T>G c.3776T>G (p.Val1259Gly) c.3824T>G (p.Val1275Gly) c.3884T>G (p.Val1295Gly) c.3434T>G (p.Val1145Gly) c.1736T>G (p.Val579Gly) c.1553T>G (p.Val518Gly) c.3785T>G (p.Val1262Gly) c.3737T>G (p.Val1246Gly) c.3506T>G (p.Val1169Gly) c.3407T>G (p.Val1136Gly) c.2588T>G (p.Val863Gly) n.4139T>G | |
13 | g.51937377A>G | CA388021212 | ATP7B | c.*1570T>C (n.*1570T>C) c.*2664T>C (n.*2664T>C) c.3299T>C (p.Val1100Ala) c.3920T>C (p.Val1307Ala) c.3587T>C (p.Val1196Ala) c.3668T>C (p.Val1223Ala) n.1243T>C c.3686T>C (p.Val1229Ala) n.4059T>C n.786T>C c.2855T>C (p.Val952Ala) c.2630T>C (p.Val877Ala) c.3725T>C (p.Val1242Ala) c.1698T>C c.*1021T>C (n.*1021T>C) n.4664T>C n.3265T>C c.3776T>C (p.Val1259Ala) c.3824T>C (p.Val1275Ala) c.3884T>C (p.Val1295Ala) c.3434T>C (p.Val1145Ala) c.1736T>C (p.Val579Ala) c.1553T>C (p.Val518Ala) c.3785T>C (p.Val1262Ala) c.3737T>C (p.Val1246Ala) c.3506T>C (p.Val1169Ala) c.3407T>C (p.Val1136Ala) c.2588T>C (p.Val863Ala) n.4139T>C | ClinVar |
13 | g.51937377A>T | CA388021214 | ATP7B | c.*1570T>A (n.*1570T>A) c.*2664T>A (n.*2664T>A) c.3299T>A (p.Val1100Glu) c.3920T>A (p.Val1307Glu) c.3587T>A (p.Val1196Glu) c.3668T>A (p.Val1223Glu) n.1243T>A c.3686T>A (p.Val1229Glu) n.4059T>A n.786T>A c.2855T>A (p.Val952Glu) c.2630T>A (p.Val877Glu) c.3725T>A (p.Val1242Glu) c.1698T>A c.*1021T>A (n.*1021T>A) n.4664T>A n.3265T>A c.3776T>A (p.Val1259Glu) c.3824T>A (p.Val1275Glu) c.3884T>A (p.Val1295Glu) c.3434T>A (p.Val1145Glu) c.1736T>A (p.Val579Glu) c.1553T>A (p.Val518Glu) c.3785T>A (p.Val1262Glu) c.3737T>A (p.Val1246Glu) c.3506T>A (p.Val1169Glu) c.3407T>A (p.Val1136Glu) c.2588T>A (p.Val863Glu) n.4139T>A | |
13 | g.51937378C>A | CA388021215 | ATP7B | c.*1569G>T (n.*1569G>T) c.*2663G>T (n.*2663G>T) c.3298G>T (p.Val1100Leu) c.3919G>T (p.Val1307Leu) c.3586G>T (p.Val1196Leu) c.3667G>T (p.Val1223Leu) n.1242G>T c.3685G>T (p.Val1229Leu) n.4058G>T n.785G>T c.2854G>T (p.Val952Leu) c.2629G>T (p.Val877Leu) c.3724G>T (p.Val1242Leu) c.1697G>T c.*1020G>T (n.*1020G>T) n.4663G>T n.3264G>T c.3775G>T (p.Val1259Leu) c.3823G>T (p.Val1275Leu) c.3883G>T (p.Val1295Leu) c.3433G>T (p.Val1145Leu) c.1735G>T (p.Val579Leu) c.1552G>T (p.Val518Leu) c.3784G>T (p.Val1262Leu) c.3736G>T (p.Val1246Leu) c.3505G>T (p.Val1169Leu) c.3406G>T (p.Val1136Leu) c.2587G>T (p.Val863Leu) n.4138G>T | gnomAD v4 COSMIC |
13 | g.51937378C= | CA2091553517 | ATP7B | c.*1569G= (n.*1569G=) c.*2663G= (n.*2663G=) c.3298G= (p.Val1100=) c.3919G= (p.Val1307=) c.3586G= (p.Val1196=) c.3667G= (p.Val1223=) n.1242G= c.3685G= (p.Val1229=) n.4058G= n.785G= c.2854G= (p.Val952=) c.2629G= (p.Val877=) c.3724G= (p.Val1242=) c.1697G= c.*1020G= (n.*1020G=) n.4663G= n.3264G= c.3775G= (p.Val1259=) c.3823G= (p.Val1275=) c.3883G= (p.Val1295=) c.3433G= (p.Val1145=) c.1735G= (p.Val579=) c.1552G= (p.Val518=) c.3784G= (p.Val1262=) c.3736G= (p.Val1246=) c.3505G= (p.Val1169=) c.3406G= (p.Val1136=) c.2587G= (p.Val863=) n.4138G= | |
13 | g.51937378C>G | CA388021217 | ATP7B | c.*1569G>C (n.*1569G>C) c.*2663G>C (n.*2663G>C) c.3298G>C (p.Val1100Leu) c.3919G>C (p.Val1307Leu) c.3586G>C (p.Val1196Leu) c.3667G>C (p.Val1223Leu) n.1242G>C c.3685G>C (p.Val1229Leu) n.4058G>C n.785G>C c.2854G>C (p.Val952Leu) c.2629G>C (p.Val877Leu) c.3724G>C (p.Val1242Leu) c.1697G>C c.*1020G>C (n.*1020G>C) n.4663G>C n.3264G>C c.3775G>C (p.Val1259Leu) c.3823G>C (p.Val1275Leu) c.3883G>C (p.Val1295Leu) c.3433G>C (p.Val1145Leu) c.1735G>C (p.Val579Leu) c.1552G>C (p.Val518Leu) c.3784G>C (p.Val1262Leu) c.3736G>C (p.Val1246Leu) c.3505G>C (p.Val1169Leu) c.3406G>C (p.Val1136Leu) c.2587G>C (p.Val863Leu) n.4138G>C | |
13 | g.51937378C>T | CA388021219 | ATP7B | c.*1569G>A (n.*1569G>A) c.*2663G>A (n.*2663G>A) c.3298G>A (p.Val1100Met) c.3919G>A (p.Val1307Met) c.3586G>A (p.Val1196Met) c.3667G>A (p.Val1223Met) n.1242G>A c.3685G>A (p.Val1229Met) n.4058G>A n.785G>A c.2854G>A (p.Val952Met) c.2629G>A (p.Val877Met) c.3724G>A (p.Val1242Met) c.1697G>A c.*1020G>A (n.*1020G>A) n.4663G>A n.3264G>A c.3775G>A (p.Val1259Met) c.3823G>A (p.Val1275Met) c.3883G>A (p.Val1295Met) c.3433G>A (p.Val1145Met) c.1735G>A (p.Val579Met) c.1552G>A (p.Val518Met) c.3784G>A (p.Val1262Met) c.3736G>A (p.Val1246Met) c.3505G>A (p.Val1169Met) c.3406G>A (p.Val1136Met) c.2587G>A (p.Val863Met) n.4138G>A | dbSNP |
13 | g.51937379A= | CA2091553519 | ATP7B | c.*1568T= (n.*1568T=) c.*2662T= (n.*2662T=) c.3297T= (p.Asp1099=) c.3918T= (p.Asp1306=) c.3585T= (p.Asp1195=) c.3666T= (p.Asp1222=) n.1241T= c.3684T= (p.Asp1228=) n.4057T= n.784T= c.2853T= (p.Asp951=) c.2628T= (p.Asp876=) c.3723T= (p.Asp1241=) c.1696T= c.*1019T= (n.*1019T=) n.4662T= n.3263T= c.3774T= (p.Asp1258=) c.3822T= (p.Asp1274=) c.3882T= (p.Asp1294=) c.3432T= (p.Asp1144=) c.1734T= (p.Asp578=) c.1551T= (p.Asp517=) c.3783T= (p.Asp1261=) c.3735T= (p.Asp1245=) c.3504T= (p.Asp1168=) c.3405T= (p.Asp1135=) c.2586T= (p.Asp862=) n.4137T= | |
13 | g.51937379A>C | CA388021221 | ATP7B | c.*1568T>G (n.*1568T>G) c.*2662T>G (n.*2662T>G) c.3297T>G (p.Asp1099Glu) c.3918T>G (p.Asp1306Glu) c.3585T>G (p.Asp1195Glu) c.3666T>G (p.Asp1222Glu) n.1241T>G c.3684T>G (p.Asp1228Glu) n.4057T>G n.784T>G c.2853T>G (p.Asp951Glu) c.2628T>G (p.Asp876Glu) c.3723T>G (p.Asp1241Glu) c.1696T>G c.*1019T>G (n.*1019T>G) n.4662T>G n.3263T>G c.3774T>G (p.Asp1258Glu) c.3822T>G (p.Asp1274Glu) c.3882T>G (p.Asp1294Glu) c.3432T>G (p.Asp1144Glu) c.1734T>G (p.Asp578Glu) c.1551T>G (p.Asp517Glu) c.3783T>G (p.Asp1261Glu) c.3735T>G (p.Asp1245Glu) c.3504T>G (p.Asp1168Glu) c.3405T>G (p.Asp1135Glu) c.2586T>G (p.Asp862Glu) n.4137T>G | |
13 | g.51937379A>G | CA484024258 | ATP7B | c.*1568T>C (n.*1568T>C) c.*2662T>C (n.*2662T>C) c.3297T>C (p.Asp1099=) c.3918T>C (p.Asp1306=) c.3585T>C (p.Asp1195=) c.3666T>C (p.Asp1222=) n.1241T>C c.3684T>C (p.Asp1228=) n.4057T>C n.784T>C c.2853T>C (p.Asp951=) c.2628T>C (p.Asp876=) c.3723T>C (p.Asp1241=) c.1696T>C c.*1019T>C (n.*1019T>C) n.4662T>C n.3263T>C c.3774T>C (p.Asp1258=) c.3822T>C (p.Asp1274=) c.3882T>C (p.Asp1294=) c.3432T>C (p.Asp1144=) c.1734T>C (p.Asp578=) c.1551T>C (p.Asp517=) c.3783T>C (p.Asp1261=) c.3735T>C (p.Asp1245=) c.3504T>C (p.Asp1168=) c.3405T>C (p.Asp1135=) c.2586T>C (p.Asp862=) n.4137T>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.51937379A>T | CA388021220 | ATP7B | c.*1568T>A (n.*1568T>A) c.*2662T>A (n.*2662T>A) c.3297T>A (p.Asp1099Glu) c.3918T>A (p.Asp1306Glu) c.3585T>A (p.Asp1195Glu) c.3666T>A (p.Asp1222Glu) n.1241T>A c.3684T>A (p.Asp1228Glu) n.4057T>A n.784T>A c.2853T>A (p.Asp951Glu) c.2628T>A (p.Asp876Glu) c.3723T>A (p.Asp1241Glu) c.1696T>A c.*1019T>A (n.*1019T>A) n.4662T>A n.3263T>A c.3774T>A (p.Asp1258Glu) c.3822T>A (p.Asp1274Glu) c.3882T>A (p.Asp1294Glu) c.3432T>A (p.Asp1144Glu) c.1734T>A (p.Asp578Glu) c.1551T>A (p.Asp517Glu) c.3783T>A (p.Asp1261Glu) c.3735T>A (p.Asp1245Glu) c.3504T>A (p.Asp1168Glu) c.3405T>A (p.Asp1135Glu) c.2586T>A (p.Asp862Glu) n.4137T>A | |
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.51937380T>A | CA388021222 | ATP7B | c.*1567A>T (n.*1567A>T) c.*2661A>T (n.*2661A>T) c.3296A>T (p.Asp1099Val) c.3917A>T (p.Asp1306Val) c.3584A>T (p.Asp1195Val) c.3665A>T (p.Asp1222Val) n.1240A>T c.3683A>T (p.Asp1228Val) n.4056A>T n.783A>T c.2852A>T (p.Asp951Val) c.2627A>T (p.Asp876Val) c.3722A>T (p.Asp1241Val) c.1695A>T c.*1018A>T (n.*1018A>T) n.4661A>T n.3262A>T c.3773A>T (p.Asp1258Val) c.3821A>T (p.Asp1274Val) c.3881A>T (p.Asp1294Val) c.3431A>T (p.Asp1144Val) c.1733A>T (p.Asp578Val) c.1550A>T (p.Asp517Val) c.3782A>T (p.Asp1261Val) c.3734A>T (p.Asp1245Val) c.3503A>T (p.Asp1168Val) c.3404A>T (p.Asp1135Val) c.2585A>T (p.Asp862Val) n.4136A>T | |
13 | g.51937380T>C | CA388021223 | ATP7B | c.*1567A>G (n.*1567A>G) c.*2661A>G (n.*2661A>G) c.3296A>G (p.Asp1099Gly) c.3917A>G (p.Asp1306Gly) c.3584A>G (p.Asp1195Gly) c.3665A>G (p.Asp1222Gly) n.1240A>G c.3683A>G (p.Asp1228Gly) n.4056A>G n.783A>G c.2852A>G (p.Asp951Gly) c.2627A>G (p.Asp876Gly) c.3722A>G (p.Asp1241Gly) c.1695A>G c.*1018A>G (n.*1018A>G) n.4661A>G n.3262A>G c.3773A>G (p.Asp1258Gly) c.3821A>G (p.Asp1274Gly) c.3881A>G (p.Asp1294Gly) c.3431A>G (p.Asp1144Gly) c.1733A>G (p.Asp578Gly) c.1550A>G (p.Asp517Gly) c.3782A>G (p.Asp1261Gly) c.3734A>G (p.Asp1245Gly) c.3503A>G (p.Asp1168Gly) c.3404A>G (p.Asp1135Gly) c.2585A>G (p.Asp862Gly) n.4136A>G | |
13 | g.51937380T>G | CA388021225 | ATP7B | c.*1567A>C (n.*1567A>C) c.*2661A>C (n.*2661A>C) c.3296A>C (p.Asp1099Ala) c.3917A>C (p.Asp1306Ala) c.3584A>C (p.Asp1195Ala) c.3665A>C (p.Asp1222Ala) n.1240A>C c.3683A>C (p.Asp1228Ala) n.4056A>C n.783A>C c.2852A>C (p.Asp951Ala) c.2627A>C (p.Asp876Ala) c.3722A>C (p.Asp1241Ala) c.1695A>C c.*1018A>C (n.*1018A>C) n.4661A>C n.3262A>C c.3773A>C (p.Asp1258Ala) c.3821A>C (p.Asp1274Ala) c.3881A>C (p.Asp1294Ala) c.3431A>C (p.Asp1144Ala) c.1733A>C (p.Asp578Ala) c.1550A>C (p.Asp517Ala) c.3782A>C (p.Asp1261Ala) c.3734A>C (p.Asp1245Ala) c.3503A>C (p.Asp1168Ala) c.3404A>C (p.Asp1135Ala) c.2585A>C (p.Asp862Ala) n.4136A>C | |
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 |