WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.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.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 | |
| 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 | |
| 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 |