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.51934816G>A | CA6988415 | ATP7B | c.*1988C>T (n.*1988C>T) c.*3082C>T (n.*3082C>T) c.3717C>T (p.Asp1239=) c.4338C>T (p.Asp1446=) c.4005C>T (p.Asp1335=) c.4086C>T (p.Asp1362=) n.1661C>T c.4104C>T (p.Asp1368=) n.4477C>T n.1204C>T c.3273C>T (p.Asp1091=) c.3048C>T (p.Asp1016=) c.4143C>T (p.Asp1381=) c.2116C>T c.*1439C>T (n.*1439C>T) n.5082C>T n.3683C>T c.4194C>T (p.Asp1398=) c.4242C>T (p.Asp1414=) c.4302C>T (p.Asp1434=) c.3852C>T (p.Asp1284=) c.2154C>T (p.Asp718=) c.1971C>T (p.Asp657=) c.4203C>T (p.Asp1401=) c.4155C>T (p.Asp1385=) c.3924C>T (p.Asp1308=) c.3825C>T (p.Asp1275=) c.3006C>T (p.Asp1002=) n.4557C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51934816G>C | CA388018998 | ATP7B | c.*1988C>G (n.*1988C>G) c.*3082C>G (n.*3082C>G) c.3717C>G (p.Asp1239Glu) c.4338C>G (p.Asp1446Glu) c.4005C>G (p.Asp1335Glu) c.4086C>G (p.Asp1362Glu) n.1661C>G c.4104C>G (p.Asp1368Glu) n.4477C>G n.1204C>G c.3273C>G (p.Asp1091Glu) c.3048C>G (p.Asp1016Glu) c.4143C>G (p.Asp1381Glu) c.2116C>G c.*1439C>G (n.*1439C>G) n.5082C>G n.3683C>G c.4194C>G (p.Asp1398Glu) c.4242C>G (p.Asp1414Glu) c.4302C>G (p.Asp1434Glu) c.3852C>G (p.Asp1284Glu) c.2154C>G (p.Asp718Glu) c.1971C>G (p.Asp657Glu) c.4203C>G (p.Asp1401Glu) c.4155C>G (p.Asp1385Glu) c.3924C>G (p.Asp1308Glu) c.3825C>G (p.Asp1275Glu) c.3006C>G (p.Asp1002Glu) n.4557C>G | |
| 13 | g.51934816G= | CA2091550221 | ATP7B | c.*1988C= (n.*1988C=) c.*3082C= (n.*3082C=) c.3717C= (p.Asp1239=) c.4338C= (p.Asp1446=) c.4005C= (p.Asp1335=) c.4086C= (p.Asp1362=) n.1661C= c.4104C= (p.Asp1368=) n.4477C= n.1204C= c.3273C= (p.Asp1091=) c.3048C= (p.Asp1016=) c.4143C= (p.Asp1381=) c.2116C= c.*1439C= (n.*1439C=) n.5082C= n.3683C= c.4194C= (p.Asp1398=) c.4242C= (p.Asp1414=) c.4302C= (p.Asp1434=) c.3852C= (p.Asp1284=) c.2154C= (p.Asp718=) c.1971C= (p.Asp657=) c.4203C= (p.Asp1401=) c.4155C= (p.Asp1385=) c.3924C= (p.Asp1308=) c.3825C= (p.Asp1275=) c.3006C= (p.Asp1002=) n.4557C= | |
| 13 | g.51934816G>T | CA388018999 | ATP7B | c.*1988C>A (n.*1988C>A) c.*3082C>A (n.*3082C>A) c.3717C>A (p.Asp1239Glu) c.4338C>A (p.Asp1446Glu) c.4005C>A (p.Asp1335Glu) c.4086C>A (p.Asp1362Glu) n.1661C>A c.4104C>A (p.Asp1368Glu) n.4477C>A n.1204C>A c.3273C>A (p.Asp1091Glu) c.3048C>A (p.Asp1016Glu) c.4143C>A (p.Asp1381Glu) c.2116C>A c.*1439C>A (n.*1439C>A) n.5082C>A n.3683C>A c.4194C>A (p.Asp1398Glu) c.4242C>A (p.Asp1414Glu) c.4302C>A (p.Asp1434Glu) c.3852C>A (p.Asp1284Glu) c.2154C>A (p.Asp718Glu) c.1971C>A (p.Asp657Glu) c.4203C>A (p.Asp1401Glu) c.4155C>A (p.Asp1385Glu) c.3924C>A (p.Asp1308Glu) c.3825C>A (p.Asp1275Glu) c.3006C>A (p.Asp1002Glu) n.4557C>A | |
| 13 | g.51934817T>A | CA388019002 | ATP7B | c.*1987A>T (n.*1987A>T) c.*3081A>T (n.*3081A>T) c.3716A>T (p.Asp1239Val) c.4337A>T (p.Asp1446Val) c.4004A>T (p.Asp1335Val) c.4085A>T (p.Asp1362Val) n.1660A>T c.4103A>T (p.Asp1368Val) n.4476A>T n.1203A>T c.3272A>T (p.Asp1091Val) c.3047A>T (p.Asp1016Val) c.4142A>T (p.Asp1381Val) c.2115A>T c.*1438A>T (n.*1438A>T) n.5081A>T n.3682A>T c.4193A>T (p.Asp1398Val) c.4241A>T (p.Asp1414Val) c.4301A>T (p.Asp1434Val) c.3851A>T (p.Asp1284Val) c.2153A>T (p.Asp718Val) c.1970A>T (p.Asp657Val) c.4202A>T (p.Asp1401Val) c.4154A>T (p.Asp1385Val) c.3923A>T (p.Asp1308Val) c.3824A>T (p.Asp1275Val) c.3005A>T (p.Asp1002Val) n.4556A>T | |
| 13 | g.51934817T>C | CA6988416 | ATP7B | c.*1987A>G (n.*1987A>G) c.*3081A>G (n.*3081A>G) c.3716A>G (p.Asp1239Gly) c.4337A>G (p.Asp1446Gly) c.4004A>G (p.Asp1335Gly) c.4085A>G (p.Asp1362Gly) n.1660A>G c.4103A>G (p.Asp1368Gly) n.4476A>G n.1203A>G c.3272A>G (p.Asp1091Gly) c.3047A>G (p.Asp1016Gly) c.4142A>G (p.Asp1381Gly) c.2115A>G c.*1438A>G (n.*1438A>G) n.5081A>G n.3682A>G c.4193A>G (p.Asp1398Gly) c.4241A>G (p.Asp1414Gly) c.4301A>G (p.Asp1434Gly) c.3851A>G (p.Asp1284Gly) c.2153A>G (p.Asp718Gly) c.1970A>G (p.Asp657Gly) c.4202A>G (p.Asp1401Gly) c.4154A>G (p.Asp1385Gly) c.3923A>G (p.Asp1308Gly) c.3824A>G (p.Asp1275Gly) c.3005A>G (p.Asp1002Gly) n.4556A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51934817T>G | CA388019001 | ATP7B | c.*1987A>C (n.*1987A>C) c.*3081A>C (n.*3081A>C) c.3716A>C (p.Asp1239Ala) c.4337A>C (p.Asp1446Ala) c.4004A>C (p.Asp1335Ala) c.4085A>C (p.Asp1362Ala) n.1660A>C c.4103A>C (p.Asp1368Ala) n.4476A>C n.1203A>C c.3272A>C (p.Asp1091Ala) c.3047A>C (p.Asp1016Ala) c.4142A>C (p.Asp1381Ala) c.2115A>C c.*1438A>C (n.*1438A>C) n.5081A>C n.3682A>C c.4193A>C (p.Asp1398Ala) c.4241A>C (p.Asp1414Ala) c.4301A>C (p.Asp1434Ala) c.3851A>C (p.Asp1284Ala) c.2153A>C (p.Asp718Ala) c.1970A>C (p.Asp657Ala) c.4202A>C (p.Asp1401Ala) c.4154A>C (p.Asp1385Ala) c.3923A>C (p.Asp1308Ala) c.3824A>C (p.Asp1275Ala) c.3005A>C (p.Asp1002Ala) n.4556A>C | |
| 13 | g.51934817T= | CA2091550222 | ATP7B | c.*1987A= (n.*1987A=) c.*3081A= (n.*3081A=) c.3716A= (p.Asp1239=) c.4337A= (p.Asp1446=) c.4004A= (p.Asp1335=) c.4085A= (p.Asp1362=) n.1660A= c.4103A= (p.Asp1368=) n.4476A= n.1203A= c.3272A= (p.Asp1091=) c.3047A= (p.Asp1016=) c.4142A= (p.Asp1381=) c.2115A= c.*1438A= (n.*1438A=) n.5081A= n.3682A= c.4193A= (p.Asp1398=) c.4241A= (p.Asp1414=) c.4301A= (p.Asp1434=) c.3851A= (p.Asp1284=) c.2153A= (p.Asp718=) c.1970A= (p.Asp657=) c.4202A= (p.Asp1401=) c.4154A= (p.Asp1385=) c.3923A= (p.Asp1308=) c.3824A= (p.Asp1275=) c.3005A= (p.Asp1002=) n.4556A= | |
| 13 | g.51934817dup | CA912974786 | ATP7B | c.*1987dup (n.*1987dup) c.*3081dup (n.*3081dup) c.3716dup (p.Asp1239GlufsTer3) c.4337dup (p.Asp1446GlufsTer3) c.4004dup (p.Asp1335GlufsTer3) c.4085dup (p.Asp1362GlufsTer3) n.1660dup c.4103dup (p.Asp1368GlufsTer3) n.4476dup n.1203dup c.3272dup (p.Asp1091GlufsTer3) c.3047dup (p.Asp1016GlufsTer3) c.4142dup (p.Asp1381GlufsTer3) c.2115dup c.*1438dup (n.*1438dup) n.5081dup n.3682dup c.4193dup (p.Asp1398GlufsTer3) c.4241dup (p.Asp1414GlufsTer3) c.4301dup (p.Asp1434GlufsTer3) c.3851dup (p.Asp1284GlufsTer3) c.2153dup (p.Asp718GlufsTer3) c.1970dup (p.Asp657GlufsTer3) c.4202dup (p.Asp1401GlufsTer3) c.4154dup (p.Asp1385GlufsTer3) c.3923dup (p.Asp1308GlufsTer3) c.3824dup (p.Asp1275GlufsTer3) c.3005dup (p.Asp1002GlufsTer3) n.4556dup | |
| 13 | g.51934818C>A | CA388019003 | ATP7B | c.*1986G>T (n.*1986G>T) c.*3080G>T (n.*3080G>T) c.3715G>T (p.Asp1239Tyr) c.4336G>T (p.Asp1446Tyr) c.4003G>T (p.Asp1335Tyr) c.4084G>T (p.Asp1362Tyr) n.1659G>T c.4102G>T (p.Asp1368Tyr) n.4475G>T n.1202G>T c.3271G>T (p.Asp1091Tyr) c.3046G>T (p.Asp1016Tyr) c.4141G>T (p.Asp1381Tyr) c.2114G>T c.*1437G>T (n.*1437G>T) n.5080G>T n.3681G>T c.4192G>T (p.Asp1398Tyr) c.4240G>T (p.Asp1414Tyr) c.4300G>T (p.Asp1434Tyr) c.3850G>T (p.Asp1284Tyr) c.2152G>T (p.Asp718Tyr) c.1969G>T (p.Asp657Tyr) c.4201G>T (p.Asp1401Tyr) c.4153G>T (p.Asp1385Tyr) c.3922G>T (p.Asp1308Tyr) c.3823G>T (p.Asp1275Tyr) c.3004G>T (p.Asp1002Tyr) n.4555G>T | |
| 13 | g.51934818C>G | CA388019004 | ATP7B | c.*1986G>C (n.*1986G>C) c.*3080G>C (n.*3080G>C) c.3715G>C (p.Asp1239His) c.4336G>C (p.Asp1446His) c.4003G>C (p.Asp1335His) c.4084G>C (p.Asp1362His) n.1659G>C c.4102G>C (p.Asp1368His) n.4475G>C n.1202G>C c.3271G>C (p.Asp1091His) c.3046G>C (p.Asp1016His) c.4141G>C (p.Asp1381His) c.2114G>C c.*1437G>C (n.*1437G>C) n.5080G>C n.3681G>C c.4192G>C (p.Asp1398His) c.4240G>C (p.Asp1414His) c.4300G>C (p.Asp1434His) c.3850G>C (p.Asp1284His) c.2152G>C (p.Asp718His) c.1969G>C (p.Asp657His) c.4201G>C (p.Asp1401His) c.4153G>C (p.Asp1385His) c.3922G>C (p.Asp1308His) c.3823G>C (p.Asp1275His) c.3004G>C (p.Asp1002His) n.4555G>C | |
| 13 | g.51934818C>T | CA388019007 | ATP7B | c.*1986G>A (n.*1986G>A) c.*3080G>A (n.*3080G>A) c.3715G>A (p.Asp1239Asn) c.4336G>A (p.Asp1446Asn) c.4003G>A (p.Asp1335Asn) c.4084G>A (p.Asp1362Asn) n.1659G>A c.4102G>A (p.Asp1368Asn) n.4475G>A n.1202G>A c.3271G>A (p.Asp1091Asn) c.3046G>A (p.Asp1016Asn) c.4141G>A (p.Asp1381Asn) c.2114G>A c.*1437G>A (n.*1437G>A) n.5080G>A n.3681G>A c.4192G>A (p.Asp1398Asn) c.4240G>A (p.Asp1414Asn) c.4300G>A (p.Asp1434Asn) c.3850G>A (p.Asp1284Asn) c.2152G>A (p.Asp718Asn) c.1969G>A (p.Asp657Asn) c.4201G>A (p.Asp1401Asn) c.4153G>A (p.Asp1385Asn) c.3922G>A (p.Asp1308Asn) c.3823G>A (p.Asp1275Asn) c.3004G>A (p.Asp1002Asn) n.4555G>A | |
| 13 | g.51934818dup | CA658823689 | ATP7B | c.*1986dup (n.*1986dup) c.*3080dup (n.*3080dup) c.3715dup (p.Asp1239GlyfsTer3) c.4336dup (p.Asp1446GlyfsTer3) c.4003dup (p.Asp1335GlyfsTer3) c.4084dup (p.Asp1362GlyfsTer3) n.1659dup c.4102dup (p.Asp1368GlyfsTer3) n.4475dup n.1202dup c.3271dup (p.Asp1091GlyfsTer3) c.3046dup (p.Asp1016GlyfsTer3) c.4141dup (p.Asp1381GlyfsTer3) c.2114dup c.*1437dup (n.*1437dup) n.5080dup n.3681dup c.4192dup (p.Asp1398GlyfsTer3) c.4240dup (p.Asp1414GlyfsTer3) c.4300dup (p.Asp1434GlyfsTer3) c.3850dup (p.Asp1284GlyfsTer3) c.2152dup (p.Asp718GlyfsTer3) c.1969dup (p.Asp657GlyfsTer3) c.4201dup (p.Asp1401GlyfsTer3) c.4153dup (p.Asp1385GlyfsTer3) c.3922dup (p.Asp1308GlyfsTer3) c.3823dup (p.Asp1275GlyfsTer3) c.3004dup (p.Asp1002GlyfsTer3) n.4555dup | ClinVar dbSNP |
| 13 | g.51934819T>A | CA484024078 | ATP7B | c.*1985A>T (n.*1985A>T) c.*3079A>T (n.*3079A>T) c.3714A>T (p.Ala1238=) c.4335A>T (p.Ala1445=) c.4002A>T (p.Ala1334=) c.4083A>T (p.Ala1361=) n.1658A>T c.4101A>T (p.Ala1367=) n.4474A>T n.1201A>T c.3270A>T (p.Ala1090=) c.3045A>T (p.Ala1015=) c.4140A>T (p.Ala1380=) c.2113A>T c.*1436A>T (n.*1436A>T) n.5079A>T n.3680A>T c.4191A>T (p.Ala1397=) c.4239A>T (p.Ala1413=) c.4299A>T (p.Ala1433=) c.3849A>T (p.Ala1283=) c.2151A>T (p.Ala717=) c.1968A>T (p.Ala656=) c.4200A>T (p.Ala1400=) c.4152A>T (p.Ala1384=) c.3921A>T (p.Ala1307=) c.3822A>T (p.Ala1274=) c.3003A>T (p.Ala1001=) n.4554A>T | |
| 13 | g.51934819T>C | CA484024079 | ATP7B | c.*1985A>G (n.*1985A>G) c.*3079A>G (n.*3079A>G) c.3714A>G (p.Ala1238=) c.4335A>G (p.Ala1445=) c.4002A>G (p.Ala1334=) c.4083A>G (p.Ala1361=) n.1658A>G c.4101A>G (p.Ala1367=) n.4474A>G n.1201A>G c.3270A>G (p.Ala1090=) c.3045A>G (p.Ala1015=) c.4140A>G (p.Ala1380=) c.2113A>G c.*1436A>G (n.*1436A>G) n.5079A>G n.3680A>G c.4191A>G (p.Ala1397=) c.4239A>G (p.Ala1413=) c.4299A>G (p.Ala1433=) c.3849A>G (p.Ala1283=) c.2151A>G (p.Ala717=) c.1968A>G (p.Ala656=) c.4200A>G (p.Ala1400=) c.4152A>G (p.Ala1384=) c.3921A>G (p.Ala1307=) c.3822A>G (p.Ala1274=) c.3003A>G (p.Ala1001=) n.4554A>G | |
| 13 | g.51934819T>G | CA484024080 | ATP7B | c.*1985A>C (n.*1985A>C) c.*3079A>C (n.*3079A>C) c.3714A>C (p.Ala1238=) c.4335A>C (p.Ala1445=) c.4002A>C (p.Ala1334=) c.4083A>C (p.Ala1361=) n.1658A>C c.4101A>C (p.Ala1367=) n.4474A>C n.1201A>C c.3270A>C (p.Ala1090=) c.3045A>C (p.Ala1015=) c.4140A>C (p.Ala1380=) c.2113A>C c.*1436A>C (n.*1436A>C) n.5079A>C n.3680A>C c.4191A>C (p.Ala1397=) c.4239A>C (p.Ala1413=) c.4299A>C (p.Ala1433=) c.3849A>C (p.Ala1283=) c.2151A>C (p.Ala717=) c.1968A>C (p.Ala656=) c.4200A>C (p.Ala1400=) c.4152A>C (p.Ala1384=) c.3921A>C (p.Ala1307=) c.3822A>C (p.Ala1274=) c.3003A>C (p.Ala1001=) n.4554A>C | |
| 13 | g.51934820G>A | CA6988417 | ATP7B | c.*1984C>T (n.*1984C>T) c.*3078C>T (n.*3078C>T) c.3713C>T (p.Ala1238Val) c.4334C>T (p.Ala1445Val) c.4001C>T (p.Ala1334Val) c.4082C>T (p.Ala1361Val) n.1657C>T c.4100C>T (p.Ala1367Val) n.4473C>T n.1200C>T c.3269C>T (p.Ala1090Val) c.3044C>T (p.Ala1015Val) c.4139C>T (p.Ala1380Val) c.2112C>T c.*1435C>T (n.*1435C>T) n.5078C>T n.3679C>T c.4190C>T (p.Ala1397Val) c.4238C>T (p.Ala1413Val) c.4298C>T (p.Ala1433Val) c.3848C>T (p.Ala1283Val) c.2150C>T (p.Ala717Val) c.1967C>T (p.Ala656Val) c.4199C>T (p.Ala1400Val) c.4151C>T (p.Ala1384Val) c.3920C>T (p.Ala1307Val) c.3821C>T (p.Ala1274Val) c.3002C>T (p.Ala1001Val) n.4553C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51934820G>C | CA388019009 | ATP7B | c.*1984C>G (n.*1984C>G) c.*3078C>G (n.*3078C>G) c.3713C>G (p.Ala1238Gly) c.4334C>G (p.Ala1445Gly) c.4001C>G (p.Ala1334Gly) c.4082C>G (p.Ala1361Gly) n.1657C>G c.4100C>G (p.Ala1367Gly) n.4473C>G n.1200C>G c.3269C>G (p.Ala1090Gly) c.3044C>G (p.Ala1015Gly) c.4139C>G (p.Ala1380Gly) c.2112C>G c.*1435C>G (n.*1435C>G) n.5078C>G n.3679C>G c.4190C>G (p.Ala1397Gly) c.4238C>G (p.Ala1413Gly) c.4298C>G (p.Ala1433Gly) c.3848C>G (p.Ala1283Gly) c.2150C>G (p.Ala717Gly) c.1967C>G (p.Ala656Gly) c.4199C>G (p.Ala1400Gly) c.4151C>G (p.Ala1384Gly) c.3920C>G (p.Ala1307Gly) c.3821C>G (p.Ala1274Gly) c.3002C>G (p.Ala1001Gly) n.4553C>G | gnomAD v4 |
| 13 | g.51934820G= | CA2091550225 | ATP7B | c.*1984C= (n.*1984C=) c.*3078C= (n.*3078C=) c.3713C= (p.Ala1238=) c.4334C= (p.Ala1445=) c.4001C= (p.Ala1334=) c.4082C= (p.Ala1361=) n.1657C= c.4100C= (p.Ala1367=) n.4473C= n.1200C= c.3269C= (p.Ala1090=) c.3044C= (p.Ala1015=) c.4139C= (p.Ala1380=) c.2112C= c.*1435C= (n.*1435C=) n.5078C= n.3679C= c.4190C= (p.Ala1397=) c.4238C= (p.Ala1413=) c.4298C= (p.Ala1433=) c.3848C= (p.Ala1283=) c.2150C= (p.Ala717=) c.1967C= (p.Ala656=) c.4199C= (p.Ala1400=) c.4151C= (p.Ala1384=) c.3920C= (p.Ala1307=) c.3821C= (p.Ala1274=) c.3002C= (p.Ala1001=) n.4553C= | |
| 13 | g.51934820G>T | CA388019011 | ATP7B | c.*1984C>A (n.*1984C>A) c.*3078C>A (n.*3078C>A) c.3713C>A (p.Ala1238Glu) c.4334C>A (p.Ala1445Glu) c.4001C>A (p.Ala1334Glu) c.4082C>A (p.Ala1361Glu) n.1657C>A c.4100C>A (p.Ala1367Glu) n.4473C>A n.1200C>A c.3269C>A (p.Ala1090Glu) c.3044C>A (p.Ala1015Glu) c.4139C>A (p.Ala1380Glu) c.2112C>A c.*1435C>A (n.*1435C>A) n.5078C>A n.3679C>A c.4190C>A (p.Ala1397Glu) c.4238C>A (p.Ala1413Glu) c.4298C>A (p.Ala1433Glu) c.3848C>A (p.Ala1283Glu) c.2150C>A (p.Ala717Glu) c.1967C>A (p.Ala656Glu) c.4199C>A (p.Ala1400Glu) c.4151C>A (p.Ala1384Glu) c.3920C>A (p.Ala1307Glu) c.3821C>A (p.Ala1274Glu) c.3002C>A (p.Ala1001Glu) n.4553C>A | |
| 13 | g.51934821C>A | CA388019013 | ATP7B | c.*1983G>T (n.*1983G>T) c.*3077G>T (n.*3077G>T) c.3712G>T (p.Ala1238Ser) c.4333G>T (p.Ala1445Ser) c.4000G>T (p.Ala1334Ser) c.4081G>T (p.Ala1361Ser) n.1656G>T c.4099G>T (p.Ala1367Ser) n.4472G>T n.1199G>T c.3268G>T (p.Ala1090Ser) c.3043G>T (p.Ala1015Ser) c.4138G>T (p.Ala1380Ser) c.2111G>T c.*1434G>T (n.*1434G>T) n.5077G>T n.3678G>T c.4189G>T (p.Ala1397Ser) c.4237G>T (p.Ala1413Ser) c.4297G>T (p.Ala1433Ser) c.3847G>T (p.Ala1283Ser) c.2149G>T (p.Ala717Ser) c.1966G>T (p.Ala656Ser) c.4198G>T (p.Ala1400Ser) c.4150G>T (p.Ala1384Ser) c.3919G>T (p.Ala1307Ser) c.3820G>T (p.Ala1274Ser) c.3001G>T (p.Ala1001Ser) n.4552G>T | |
| 13 | g.51934821C>G | CA388019015 | ATP7B | c.*1983G>C (n.*1983G>C) c.*3077G>C (n.*3077G>C) c.3712G>C (p.Ala1238Pro) c.4333G>C (p.Ala1445Pro) c.4000G>C (p.Ala1334Pro) c.4081G>C (p.Ala1361Pro) n.1656G>C c.4099G>C (p.Ala1367Pro) n.4472G>C n.1199G>C c.3268G>C (p.Ala1090Pro) c.3043G>C (p.Ala1015Pro) c.4138G>C (p.Ala1380Pro) c.2111G>C c.*1434G>C (n.*1434G>C) n.5077G>C n.3678G>C c.4189G>C (p.Ala1397Pro) c.4237G>C (p.Ala1413Pro) c.4297G>C (p.Ala1433Pro) c.3847G>C (p.Ala1283Pro) c.2149G>C (p.Ala717Pro) c.1966G>C (p.Ala656Pro) c.4198G>C (p.Ala1400Pro) c.4150G>C (p.Ala1384Pro) c.3919G>C (p.Ala1307Pro) c.3820G>C (p.Ala1274Pro) c.3001G>C (p.Ala1001Pro) n.4552G>C | |
| 13 | g.51934821C>T | CA388019017 | ATP7B | c.*1983G>A (n.*1983G>A) c.*3077G>A (n.*3077G>A) c.3712G>A (p.Ala1238Thr) c.4333G>A (p.Ala1445Thr) c.4000G>A (p.Ala1334Thr) c.4081G>A (p.Ala1361Thr) n.1656G>A c.4099G>A (p.Ala1367Thr) n.4472G>A n.1199G>A c.3268G>A (p.Ala1090Thr) c.3043G>A (p.Ala1015Thr) c.4138G>A (p.Ala1380Thr) c.2111G>A c.*1434G>A (n.*1434G>A) n.5077G>A n.3678G>A c.4189G>A (p.Ala1397Thr) c.4237G>A (p.Ala1413Thr) c.4297G>A (p.Ala1433Thr) c.3847G>A (p.Ala1283Thr) c.2149G>A (p.Ala717Thr) c.1966G>A (p.Ala656Thr) c.4198G>A (p.Ala1400Thr) c.4150G>A (p.Ala1384Thr) c.3919G>A (p.Ala1307Thr) c.3820G>A (p.Ala1274Thr) c.3001G>A (p.Ala1001Thr) n.4552G>A | |
| 13 | g.51934822T>A | CA484024081 | ATP7B | c.*1982A>T (n.*1982A>T) c.*3076A>T (n.*3076A>T) c.3711A>T (p.Ala1237=) c.4332A>T (p.Ala1444=) c.3999A>T (p.Ala1333=) c.4080A>T (p.Ala1360=) n.1655A>T c.4098A>T (p.Ala1366=) n.4471A>T n.1198A>T c.3267A>T (p.Ala1089=) c.3042A>T (p.Ala1014=) c.4137A>T (p.Ala1379=) c.2110A>T c.*1433A>T (n.*1433A>T) n.5076A>T n.3677A>T c.4188A>T (p.Ala1396=) c.4236A>T (p.Ala1412=) c.4296A>T (p.Ala1432=) c.3846A>T (p.Ala1282=) c.2148A>T (p.Ala716=) c.1965A>T (p.Ala655=) c.4197A>T (p.Ala1399=) c.4149A>T (p.Ala1383=) c.3918A>T (p.Ala1306=) c.3819A>T (p.Ala1273=) c.3000A>T (p.Ala1000=) n.4551A>T | |
| 13 | g.51934822T>C | CA484024082 | ATP7B | c.*1982A>G (n.*1982A>G) c.*3076A>G (n.*3076A>G) c.3711A>G (p.Ala1237=) c.4332A>G (p.Ala1444=) c.3999A>G (p.Ala1333=) c.4080A>G (p.Ala1360=) n.1655A>G c.4098A>G (p.Ala1366=) n.4471A>G n.1198A>G c.3267A>G (p.Ala1089=) c.3042A>G (p.Ala1014=) c.4137A>G (p.Ala1379=) c.2110A>G c.*1433A>G (n.*1433A>G) n.5076A>G n.3677A>G c.4188A>G (p.Ala1396=) c.4236A>G (p.Ala1412=) c.4296A>G (p.Ala1432=) c.3846A>G (p.Ala1282=) c.2148A>G (p.Ala716=) c.1965A>G (p.Ala655=) c.4197A>G (p.Ala1399=) c.4149A>G (p.Ala1383=) c.3918A>G (p.Ala1306=) c.3819A>G (p.Ala1273=) c.3000A>G (p.Ala1000=) n.4551A>G | ClinVar |
| 13 | g.51934822T>G | CA484024083 | ATP7B | c.*1982A>C (n.*1982A>C) c.*3076A>C (n.*3076A>C) c.3711A>C (p.Ala1237=) c.4332A>C (p.Ala1444=) c.3999A>C (p.Ala1333=) c.4080A>C (p.Ala1360=) n.1655A>C c.4098A>C (p.Ala1366=) n.4471A>C n.1198A>C c.3267A>C (p.Ala1089=) c.3042A>C (p.Ala1014=) c.4137A>C (p.Ala1379=) c.2110A>C c.*1433A>C (n.*1433A>C) n.5076A>C n.3677A>C c.4188A>C (p.Ala1396=) c.4236A>C (p.Ala1412=) c.4296A>C (p.Ala1432=) c.3846A>C (p.Ala1282=) c.2148A>C (p.Ala716=) c.1965A>C (p.Ala655=) c.4197A>C (p.Ala1399=) c.4149A>C (p.Ala1383=) c.3918A>C (p.Ala1306=) c.3819A>C (p.Ala1273=) c.3000A>C (p.Ala1000=) n.4551A>C | |
| 13 | g.51934823G>A | CA388019018 | ATP7B | c.*1981C>T (n.*1981C>T) c.*3075C>T (n.*3075C>T) c.3710C>T (p.Ala1237Val) c.4331C>T (p.Ala1444Val) c.3998C>T (p.Ala1333Val) c.4079C>T (p.Ala1360Val) n.1654C>T c.4097C>T (p.Ala1366Val) n.4470C>T n.1197C>T c.3266C>T (p.Ala1089Val) c.3041C>T (p.Ala1014Val) c.4136C>T (p.Ala1379Val) c.2109C>T c.*1432C>T (n.*1432C>T) n.5075C>T n.3676C>T c.4187C>T (p.Ala1396Val) c.4235C>T (p.Ala1412Val) c.4295C>T (p.Ala1432Val) c.3845C>T (p.Ala1282Val) c.2147C>T (p.Ala716Val) c.1964C>T (p.Ala655Val) c.4196C>T (p.Ala1399Val) c.4148C>T (p.Ala1383Val) c.3917C>T (p.Ala1306Val) c.3818C>T (p.Ala1273Val) c.2999C>T (p.Ala1000Val) n.4550C>T | gnomAD v4 |
| 13 | g.51934823G>C | CA388019023 | ATP7B | c.*1981C>G (n.*1981C>G) c.*3075C>G (n.*3075C>G) c.3710C>G (p.Ala1237Gly) c.4331C>G (p.Ala1444Gly) c.3998C>G (p.Ala1333Gly) c.4079C>G (p.Ala1360Gly) n.1654C>G c.4097C>G (p.Ala1366Gly) n.4470C>G n.1197C>G c.3266C>G (p.Ala1089Gly) c.3041C>G (p.Ala1014Gly) c.4136C>G (p.Ala1379Gly) c.2109C>G c.*1432C>G (n.*1432C>G) n.5075C>G n.3676C>G c.4187C>G (p.Ala1396Gly) c.4235C>G (p.Ala1412Gly) c.4295C>G (p.Ala1432Gly) c.3845C>G (p.Ala1282Gly) c.2147C>G (p.Ala716Gly) c.1964C>G (p.Ala655Gly) c.4196C>G (p.Ala1399Gly) c.4148C>G (p.Ala1383Gly) c.3917C>G (p.Ala1306Gly) c.3818C>G (p.Ala1273Gly) c.2999C>G (p.Ala1000Gly) n.4550C>G | |
| 13 | g.51934823G>T | CA388019026 | ATP7B | c.*1981C>A (n.*1981C>A) c.*3075C>A (n.*3075C>A) c.3710C>A (p.Ala1237Glu) c.4331C>A (p.Ala1444Glu) c.3998C>A (p.Ala1333Glu) c.4079C>A (p.Ala1360Glu) n.1654C>A c.4097C>A (p.Ala1366Glu) n.4470C>A n.1197C>A c.3266C>A (p.Ala1089Glu) c.3041C>A (p.Ala1014Glu) c.4136C>A (p.Ala1379Glu) c.2109C>A c.*1432C>A (n.*1432C>A) n.5075C>A n.3676C>A c.4187C>A (p.Ala1396Glu) c.4235C>A (p.Ala1412Glu) c.4295C>A (p.Ala1432Glu) c.3845C>A (p.Ala1282Glu) c.2147C>A (p.Ala716Glu) c.1964C>A (p.Ala655Glu) c.4196C>A (p.Ala1399Glu) c.4148C>A (p.Ala1383Glu) c.3917C>A (p.Ala1306Glu) c.3818C>A (p.Ala1273Glu) c.2999C>A (p.Ala1000Glu) n.4550C>A | COSMIC |
| 13 | g.51934824C>A | CA388019035 | ATP7B | c.*1980G>T (n.*1980G>T) c.*3074G>T (n.*3074G>T) c.3709G>T (p.Ala1237Ser) c.4330G>T (p.Ala1444Ser) c.3997G>T (p.Ala1333Ser) c.4078G>T (p.Ala1360Ser) n.1653G>T c.4096G>T (p.Ala1366Ser) n.4469G>T n.1196G>T c.3265G>T (p.Ala1089Ser) c.3040G>T (p.Ala1014Ser) c.4135G>T (p.Ala1379Ser) c.2108G>T c.*1431G>T (n.*1431G>T) n.5074G>T n.3675G>T c.4186G>T (p.Ala1396Ser) c.4234G>T (p.Ala1412Ser) c.4294G>T (p.Ala1432Ser) c.3844G>T (p.Ala1282Ser) c.2146G>T (p.Ala716Ser) c.1963G>T (p.Ala655Ser) c.4195G>T (p.Ala1399Ser) c.4147G>T (p.Ala1383Ser) c.3916G>T (p.Ala1306Ser) c.3817G>T (p.Ala1273Ser) c.2998G>T (p.Ala1000Ser) n.4549G>T | |
| 13 | g.51934824C= | CA2091550227 | ATP7B | c.*1980G= (n.*1980G=) c.*3074G= (n.*3074G=) c.3709G= (p.Ala1237=) c.4330G= (p.Ala1444=) c.3997G= (p.Ala1333=) c.4078G= (p.Ala1360=) n.1653G= c.4096G= (p.Ala1366=) n.4469G= n.1196G= c.3265G= (p.Ala1089=) c.3040G= (p.Ala1014=) c.4135G= (p.Ala1379=) c.2108G= c.*1431G= (n.*1431G=) n.5074G= n.3675G= c.4186G= (p.Ala1396=) c.4234G= (p.Ala1412=) c.4294G= (p.Ala1432=) c.3844G= (p.Ala1282=) c.2146G= (p.Ala716=) c.1963G= (p.Ala655=) c.4195G= (p.Ala1399=) c.4147G= (p.Ala1383=) c.3916G= (p.Ala1306=) c.3817G= (p.Ala1273=) c.2998G= (p.Ala1000=) n.4549G= | |
| 13 | g.51934824C>G | CA388019032 | ATP7B | c.*1980G>C (n.*1980G>C) c.*3074G>C (n.*3074G>C) c.3709G>C (p.Ala1237Pro) c.4330G>C (p.Ala1444Pro) c.3997G>C (p.Ala1333Pro) c.4078G>C (p.Ala1360Pro) n.1653G>C c.4096G>C (p.Ala1366Pro) n.4469G>C n.1196G>C c.3265G>C (p.Ala1089Pro) c.3040G>C (p.Ala1014Pro) c.4135G>C (p.Ala1379Pro) c.2108G>C c.*1431G>C (n.*1431G>C) n.5074G>C n.3675G>C c.4186G>C (p.Ala1396Pro) c.4234G>C (p.Ala1412Pro) c.4294G>C (p.Ala1432Pro) c.3844G>C (p.Ala1282Pro) c.2146G>C (p.Ala716Pro) c.1963G>C (p.Ala655Pro) c.4195G>C (p.Ala1399Pro) c.4147G>C (p.Ala1383Pro) c.3916G>C (p.Ala1306Pro) c.3817G>C (p.Ala1273Pro) c.2998G>C (p.Ala1000Pro) n.4549G>C | |
| 13 | g.51934824C>T | CA388019028 | ATP7B | c.*1980G>A (n.*1980G>A) c.*3074G>A (n.*3074G>A) c.3709G>A (p.Ala1237Thr) c.4330G>A (p.Ala1444Thr) c.3997G>A (p.Ala1333Thr) c.4078G>A (p.Ala1360Thr) n.1653G>A c.4096G>A (p.Ala1366Thr) n.4469G>A n.1196G>A c.3265G>A (p.Ala1089Thr) c.3040G>A (p.Ala1014Thr) c.4135G>A (p.Ala1379Thr) c.2108G>A c.*1431G>A (n.*1431G>A) n.5074G>A n.3675G>A c.4186G>A (p.Ala1396Thr) c.4234G>A (p.Ala1412Thr) c.4294G>A (p.Ala1432Thr) c.3844G>A (p.Ala1282Thr) c.2146G>A (p.Ala716Thr) c.1963G>A (p.Ala655Thr) c.4195G>A (p.Ala1399Thr) c.4147G>A (p.Ala1383Thr) c.3916G>A (p.Ala1306Thr) c.3817G>A (p.Ala1273Thr) c.2998G>A (p.Ala1000Thr) n.4549G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51934825A= | CA2091550228 | ATP7B | c.*1979T= (n.*1979T=) c.*3073T= (n.*3073T=) c.3708T= (p.Ala1236=) c.4329T= (p.Ala1443=) c.3996T= (p.Ala1332=) c.4077T= (p.Ala1359=) n.1652T= c.4095T= (p.Ala1365=) n.4468T= n.1195T= c.3264T= (p.Ala1088=) c.3039T= (p.Ala1013=) c.4134T= (p.Ala1378=) c.2107T= c.*1430T= (n.*1430T=) n.5073T= n.3674T= c.4185T= (p.Ala1395=) c.4233T= (p.Ala1411=) c.4293T= (p.Ala1431=) c.3843T= (p.Ala1281=) c.2145T= (p.Ala715=) c.1962T= (p.Ala654=) c.4194T= (p.Ala1398=) c.4146T= (p.Ala1382=) c.3915T= (p.Ala1305=) c.3816T= (p.Ala1272=) c.2997T= (p.Ala999=) n.4548T= | |
| 13 | g.51934825A>C | CA484024087 | ATP7B | c.*1979T>G (n.*1979T>G) c.*3073T>G (n.*3073T>G) c.3708T>G (p.Ala1236=) c.4329T>G (p.Ala1443=) c.3996T>G (p.Ala1332=) c.4077T>G (p.Ala1359=) n.1652T>G c.4095T>G (p.Ala1365=) n.4468T>G n.1195T>G c.3264T>G (p.Ala1088=) c.3039T>G (p.Ala1013=) c.4134T>G (p.Ala1378=) c.2107T>G c.*1430T>G (n.*1430T>G) n.5073T>G n.3674T>G c.4185T>G (p.Ala1395=) c.4233T>G (p.Ala1411=) c.4293T>G (p.Ala1431=) c.3843T>G (p.Ala1281=) c.2145T>G (p.Ala715=) c.1962T>G (p.Ala654=) c.4194T>G (p.Ala1398=) c.4146T>G (p.Ala1382=) c.3915T>G (p.Ala1305=) c.3816T>G (p.Ala1272=) c.2997T>G (p.Ala999=) n.4548T>G | |
| 13 | g.51934825A>G | CA484024088 | ATP7B | c.*1979T>C (n.*1979T>C) c.*3073T>C (n.*3073T>C) c.3708T>C (p.Ala1236=) c.4329T>C (p.Ala1443=) c.3996T>C (p.Ala1332=) c.4077T>C (p.Ala1359=) n.1652T>C c.4095T>C (p.Ala1365=) n.4468T>C n.1195T>C c.3264T>C (p.Ala1088=) c.3039T>C (p.Ala1013=) c.4134T>C (p.Ala1378=) c.2107T>C c.*1430T>C (n.*1430T>C) n.5073T>C n.3674T>C c.4185T>C (p.Ala1395=) c.4233T>C (p.Ala1411=) c.4293T>C (p.Ala1431=) c.3843T>C (p.Ala1281=) c.2145T>C (p.Ala715=) c.1962T>C (p.Ala654=) c.4194T>C (p.Ala1398=) c.4146T>C (p.Ala1382=) c.3915T>C (p.Ala1305=) c.3816T>C (p.Ala1272=) c.2997T>C (p.Ala999=) n.4548T>C | |
| 13 | g.51934825A>T | CA6988418 | ATP7B | c.*1979T>A (n.*1979T>A) c.*3073T>A (n.*3073T>A) c.3708T>A (p.Ala1236=) c.4329T>A (p.Ala1443=) c.3996T>A (p.Ala1332=) c.4077T>A (p.Ala1359=) n.1652T>A c.4095T>A (p.Ala1365=) n.4468T>A n.1195T>A c.3264T>A (p.Ala1088=) c.3039T>A (p.Ala1013=) c.4134T>A (p.Ala1378=) c.2107T>A c.*1430T>A (n.*1430T>A) n.5073T>A n.3674T>A c.4185T>A (p.Ala1395=) c.4233T>A (p.Ala1411=) c.4293T>A (p.Ala1431=) c.3843T>A (p.Ala1281=) c.2145T>A (p.Ala715=) c.1962T>A (p.Ala654=) c.4194T>A (p.Ala1398=) c.4146T>A (p.Ala1382=) c.3915T>A (p.Ala1305=) c.3816T>A (p.Ala1272=) c.2997T>A (p.Ala999=) n.4548T>A | dbSNP ExAC gnomAD v2 |
| 13 | g.51934826G>A | CA388019043 | ATP7B | c.*1978C>T (n.*1978C>T) c.*3072C>T (n.*3072C>T) c.3707C>T (p.Ala1236Val) c.4328C>T (p.Ala1443Val) c.3995C>T (p.Ala1332Val) c.4076C>T (p.Ala1359Val) n.1651C>T c.4094C>T (p.Ala1365Val) n.4467C>T n.1194C>T c.3263C>T (p.Ala1088Val) c.3038C>T (p.Ala1013Val) c.4133C>T (p.Ala1378Val) c.2106C>T c.*1429C>T (n.*1429C>T) n.5072C>T n.3673C>T c.4184C>T (p.Ala1395Val) c.4232C>T (p.Ala1411Val) c.4292C>T (p.Ala1431Val) c.3842C>T (p.Ala1281Val) c.2144C>T (p.Ala715Val) c.1961C>T (p.Ala654Val) c.4193C>T (p.Ala1398Val) c.4145C>T (p.Ala1382Val) c.3914C>T (p.Ala1305Val) c.3815C>T (p.Ala1272Val) c.2996C>T (p.Ala999Val) n.4547C>T | |
| 13 | g.51934826G>C | CA388019044 | ATP7B | c.*1978C>G (n.*1978C>G) c.*3072C>G (n.*3072C>G) c.3707C>G (p.Ala1236Gly) c.4328C>G (p.Ala1443Gly) c.3995C>G (p.Ala1332Gly) c.4076C>G (p.Ala1359Gly) n.1651C>G c.4094C>G (p.Ala1365Gly) n.4467C>G n.1194C>G c.3263C>G (p.Ala1088Gly) c.3038C>G (p.Ala1013Gly) c.4133C>G (p.Ala1378Gly) c.2106C>G c.*1429C>G (n.*1429C>G) n.5072C>G n.3673C>G c.4184C>G (p.Ala1395Gly) c.4232C>G (p.Ala1411Gly) c.4292C>G (p.Ala1431Gly) c.3842C>G (p.Ala1281Gly) c.2144C>G (p.Ala715Gly) c.1961C>G (p.Ala654Gly) c.4193C>G (p.Ala1398Gly) c.4145C>G (p.Ala1382Gly) c.3914C>G (p.Ala1305Gly) c.3815C>G (p.Ala1272Gly) c.2996C>G (p.Ala999Gly) n.4547C>G | |
| 13 | g.51934826G>T | CA388019045 | ATP7B | c.*1978C>A (n.*1978C>A) c.*3072C>A (n.*3072C>A) c.3707C>A (p.Ala1236Asp) c.4328C>A (p.Ala1443Asp) c.3995C>A (p.Ala1332Asp) c.4076C>A (p.Ala1359Asp) n.1651C>A c.4094C>A (p.Ala1365Asp) n.4467C>A n.1194C>A c.3263C>A (p.Ala1088Asp) c.3038C>A (p.Ala1013Asp) c.4133C>A (p.Ala1378Asp) c.2106C>A c.*1429C>A (n.*1429C>A) n.5072C>A n.3673C>A c.4184C>A (p.Ala1395Asp) c.4232C>A (p.Ala1411Asp) c.4292C>A (p.Ala1431Asp) c.3842C>A (p.Ala1281Asp) c.2144C>A (p.Ala715Asp) c.1961C>A (p.Ala654Asp) c.4193C>A (p.Ala1398Asp) c.4145C>A (p.Ala1382Asp) c.3914C>A (p.Ala1305Asp) c.3815C>A (p.Ala1272Asp) c.2996C>A (p.Ala999Asp) n.4547C>A | |
| 13 | g.51934828_51934829del | CA912974787 | ATP7B | c.*1977_*1978del (n.*1977_*1978del) c.*3071_*3072del (n.*3071_*3072del) c.3706_3707del (p.Ala1236CysfsTer5) c.4327_4328del (p.Ala1443CysfsTer5) c.3994_3995del (p.Ala1332CysfsTer5) c.4075_4076del (p.Ala1359CysfsTer5) n.1650_1651del c.4093_4094del (p.Ala1365CysfsTer5) n.4466_4467del n.1193_1194del c.3262_3263del (p.Ala1088CysfsTer5) c.3037_3038del (p.Ala1013CysfsTer5) c.4132_4133del (p.Ala1378CysfsTer5) c.2105_2106del c.*1428_*1429del (n.*1428_*1429del) n.5071_5072del n.3672_3673del c.4183_4184del (p.Ala1395CysfsTer5) c.4231_4232del (p.Ala1411CysfsTer5) c.4291_4292del (p.Ala1431CysfsTer5) c.3841_3842del (p.Ala1281CysfsTer5) c.2143_2144del (p.Ala715CysfsTer5) c.1960_1961del (p.Ala654CysfsTer5) c.4192_4193del (p.Ala1398CysfsTer5) c.4144_4145del (p.Ala1382CysfsTer5) c.3913_3914del (p.Ala1305CysfsTer5) c.3814_3815del (p.Ala1272CysfsTer5) c.2995_2996del (p.Ala999CysfsTer5) n.4546_4547del | |
| 13 | g.51934827C>A | CA388019046 | ATP7B | c.*1977G>T (n.*1977G>T) c.*3071G>T (n.*3071G>T) c.3706G>T (p.Ala1236Ser) c.4327G>T (p.Ala1443Ser) c.3994G>T (p.Ala1332Ser) c.4075G>T (p.Ala1359Ser) n.1650G>T c.4093G>T (p.Ala1365Ser) n.4466G>T n.1193G>T c.3262G>T (p.Ala1088Ser) c.3037G>T (p.Ala1013Ser) c.4132G>T (p.Ala1378Ser) c.2105G>T c.*1428G>T (n.*1428G>T) n.5071G>T n.3672G>T c.4183G>T (p.Ala1395Ser) c.4231G>T (p.Ala1411Ser) c.4291G>T (p.Ala1431Ser) c.3841G>T (p.Ala1281Ser) c.2143G>T (p.Ala715Ser) c.1960G>T (p.Ala654Ser) c.4192G>T (p.Ala1398Ser) c.4144G>T (p.Ala1382Ser) c.3913G>T (p.Ala1305Ser) c.3814G>T (p.Ala1272Ser) c.2995G>T (p.Ala999Ser) n.4546G>T | ClinVar dbSNP |
| 13 | g.51934827C= | CA2091550230 | ATP7B | c.*1977G= (n.*1977G=) c.*3071G= (n.*3071G=) c.3706G= (p.Ala1236=) c.4327G= (p.Ala1443=) c.3994G= (p.Ala1332=) c.4075G= (p.Ala1359=) n.1650G= c.4093G= (p.Ala1365=) n.4466G= n.1193G= c.3262G= (p.Ala1088=) c.3037G= (p.Ala1013=) c.4132G= (p.Ala1378=) c.2105G= c.*1428G= (n.*1428G=) n.5071G= n.3672G= c.4183G= (p.Ala1395=) c.4231G= (p.Ala1411=) c.4291G= (p.Ala1431=) c.3841G= (p.Ala1281=) c.2143G= (p.Ala715=) c.1960G= (p.Ala654=) c.4192G= (p.Ala1398=) c.4144G= (p.Ala1382=) c.3913G= (p.Ala1305=) c.3814G= (p.Ala1272=) c.2995G= (p.Ala999=) n.4546G= | |
| 13 | g.51934827C>G | CA388019047 | ATP7B | c.*1977G>C (n.*1977G>C) c.*3071G>C (n.*3071G>C) c.3706G>C (p.Ala1236Pro) c.4327G>C (p.Ala1443Pro) c.3994G>C (p.Ala1332Pro) c.4075G>C (p.Ala1359Pro) n.1650G>C c.4093G>C (p.Ala1365Pro) n.4466G>C n.1193G>C c.3262G>C (p.Ala1088Pro) c.3037G>C (p.Ala1013Pro) c.4132G>C (p.Ala1378Pro) c.2105G>C c.*1428G>C (n.*1428G>C) n.5071G>C n.3672G>C c.4183G>C (p.Ala1395Pro) c.4231G>C (p.Ala1411Pro) c.4291G>C (p.Ala1431Pro) c.3841G>C (p.Ala1281Pro) c.2143G>C (p.Ala715Pro) c.1960G>C (p.Ala654Pro) c.4192G>C (p.Ala1398Pro) c.4144G>C (p.Ala1382Pro) c.3913G>C (p.Ala1305Pro) c.3814G>C (p.Ala1272Pro) c.2995G>C (p.Ala999Pro) n.4546G>C | |
| 13 | g.51934827C>T | CA6988419 | ATP7B | c.*1977G>A (n.*1977G>A) c.*3071G>A (n.*3071G>A) c.3706G>A (p.Ala1236Thr) c.4327G>A (p.Ala1443Thr) c.3994G>A (p.Ala1332Thr) c.4075G>A (p.Ala1359Thr) n.1650G>A c.4093G>A (p.Ala1365Thr) n.4466G>A n.1193G>A c.3262G>A (p.Ala1088Thr) c.3037G>A (p.Ala1013Thr) c.4132G>A (p.Ala1378Thr) c.2105G>A c.*1428G>A (n.*1428G>A) n.5071G>A n.3672G>A c.4183G>A (p.Ala1395Thr) c.4231G>A (p.Ala1411Thr) c.4291G>A (p.Ala1431Thr) c.3841G>A (p.Ala1281Thr) c.2143G>A (p.Ala715Thr) c.1960G>A (p.Ala654Thr) c.4192G>A (p.Ala1398Thr) c.4144G>A (p.Ala1382Thr) c.3913G>A (p.Ala1305Thr) c.3814G>A (p.Ala1272Thr) c.2995G>A (p.Ala999Thr) n.4546G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51934828G>A | CA484024091 | ATP7B | c.*1976C>T (n.*1976C>T) c.*3070C>T (n.*3070C>T) c.3705C>T (p.Ser1235=) c.4326C>T (p.Ser1442=) c.3993C>T (p.Ser1331=) c.4074C>T (p.Ser1358=) n.1649C>T c.4092C>T (p.Ser1364=) n.4465C>T n.1192C>T c.3261C>T (p.Ser1087=) c.3036C>T (p.Ser1012=) c.4131C>T (p.Ser1377=) c.2104C>T c.*1427C>T (n.*1427C>T) n.5070C>T n.3671C>T c.4182C>T (p.Ser1394=) c.4230C>T (p.Ser1410=) c.4290C>T (p.Ser1430=) c.3840C>T (p.Ser1280=) c.2142C>T (p.Ser714=) c.1959C>T (p.Ser653=) c.4191C>T (p.Ser1397=) c.4143C>T (p.Ser1381=) c.3912C>T (p.Ser1304=) c.3813C>T (p.Ser1271=) c.2994C>T (p.Ser998=) n.4545C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51934828G>C | CA388019051 | ATP7B | c.*1976C>G (n.*1976C>G) c.*3070C>G (n.*3070C>G) c.3705C>G (p.Ser1235Arg) c.4326C>G (p.Ser1442Arg) c.3993C>G (p.Ser1331Arg) c.4074C>G (p.Ser1358Arg) n.1649C>G c.4092C>G (p.Ser1364Arg) n.4465C>G n.1192C>G c.3261C>G (p.Ser1087Arg) c.3036C>G (p.Ser1012Arg) c.4131C>G (p.Ser1377Arg) c.2104C>G c.*1427C>G (n.*1427C>G) n.5070C>G n.3671C>G c.4182C>G (p.Ser1394Arg) c.4230C>G (p.Ser1410Arg) c.4290C>G (p.Ser1430Arg) c.3840C>G (p.Ser1280Arg) c.2142C>G (p.Ser714Arg) c.1959C>G (p.Ser653Arg) c.4191C>G (p.Ser1397Arg) c.4143C>G (p.Ser1381Arg) c.3912C>G (p.Ser1304Arg) c.3813C>G (p.Ser1271Arg) c.2994C>G (p.Ser998Arg) n.4545C>G | |
| 13 | g.51934828G= | CA2091550234 | ATP7B | c.*1976C= (n.*1976C=) c.*3070C= (n.*3070C=) c.3705C= (p.Ser1235=) c.4326C= (p.Ser1442=) c.3993C= (p.Ser1331=) c.4074C= (p.Ser1358=) n.1649C= c.4092C= (p.Ser1364=) n.4465C= n.1192C= c.3261C= (p.Ser1087=) c.3036C= (p.Ser1012=) c.4131C= (p.Ser1377=) c.2104C= c.*1427C= (n.*1427C=) n.5070C= n.3671C= c.4182C= (p.Ser1394=) c.4230C= (p.Ser1410=) c.4290C= (p.Ser1430=) c.3840C= (p.Ser1280=) c.2142C= (p.Ser714=) c.1959C= (p.Ser653=) c.4191C= (p.Ser1397=) c.4143C= (p.Ser1381=) c.3912C= (p.Ser1304=) c.3813C= (p.Ser1271=) c.2994C= (p.Ser998=) n.4545C= | |
| 13 | g.51934828G>T | CA388019053 | ATP7B | c.*1976C>A (n.*1976C>A) c.*3070C>A (n.*3070C>A) c.3705C>A (p.Ser1235Arg) c.4326C>A (p.Ser1442Arg) c.3993C>A (p.Ser1331Arg) c.4074C>A (p.Ser1358Arg) n.1649C>A c.4092C>A (p.Ser1364Arg) n.4465C>A n.1192C>A c.3261C>A (p.Ser1087Arg) c.3036C>A (p.Ser1012Arg) c.4131C>A (p.Ser1377Arg) c.2104C>A c.*1427C>A (n.*1427C>A) n.5070C>A n.3671C>A c.4182C>A (p.Ser1394Arg) c.4230C>A (p.Ser1410Arg) c.4290C>A (p.Ser1430Arg) c.3840C>A (p.Ser1280Arg) c.2142C>A (p.Ser714Arg) c.1959C>A (p.Ser653Arg) c.4191C>A (p.Ser1397Arg) c.4143C>A (p.Ser1381Arg) c.3912C>A (p.Ser1304Arg) c.3813C>A (p.Ser1271Arg) c.2994C>A (p.Ser998Arg) n.4545C>A | gnomAD v4 |
| 13 | g.51934828_51934829delinsGC | CA2091550233 | ATP7B | c.*1975_*1976delinsGC (n.*1975_*1976delinsGC) c.*3069_*3070delinsGC (n.*3069_*3070delinsGC) c.3704_3705delinsGC (p.Ser1235=) c.4325_4326delinsGC (p.Ser1442=) c.3992_3993delinsGC (p.Ser1331=) c.4073_4074delinsGC (p.Ser1358=) n.1648_1649delinsGC c.4091_4092delinsGC (p.Ser1364=) n.4464_4465delinsGC n.1191_1192delinsGC c.3260_3261delinsGC (p.Ser1087=) c.3035_3036delinsGC (p.Ser1012=) c.4130_4131delinsGC (p.Ser1377=) c.2103_2104delinsGC c.*1426_*1427delinsGC (n.*1426_*1427delinsGC) n.5069_5070delinsGC n.3670_3671delinsGC c.4181_4182delinsGC (p.Ser1394=) c.4229_4230delinsGC (p.Ser1410=) c.4289_4290delinsGC (p.Ser1430=) c.3839_3840delinsGC (p.Ser1280=) c.2141_2142delinsGC (p.Ser714=) c.1958_1959delinsGC (p.Ser653=) c.4190_4191delinsGC (p.Ser1397=) c.4142_4143delinsGC (p.Ser1381=) c.3911_3912delinsGC (p.Ser1304=) c.3812_3813delinsGC (p.Ser1271=) c.2993_2994delinsGC (p.Ser998=) n.4544_4545delinsGC |