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.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 |