| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113363439T>A | CA300933 | ANK2 | c.10999T>A (p.Trp3667Arg) c.4684T>A (p.Trp1562Arg) c.1285T>A (p.Trp429Arg) c.1783T>A (p.Trp595Arg) n.2240T>A n.1448T>A n.2192T>A n.1021T>A n.2983T>A n.1357T>A n.7703T>A n.2329T>A n.2747T>A c.10858T>A (p.Trp3620Arg) c.10696T>A (p.Trp3566Arg) c.1990T>A (p.Trp664Arg) c.313T>A (p.Trp105Arg) c.4417T>A (p.Trp1473Arg) c.4504T>A (p.Trp1502Arg) c.4441T>A (p.Trp1481Arg) c.4639T>A (p.Trp1547Arg) c.4540T>A (p.Trp1514Arg) c.10732T>A (p.Trp3578Arg) c.4342T>A (p.Trp1448Arg) c.*96T>A (n.*96T>A) c.10675T>A (p.Trp3559Arg) c.4219T>A (p.Trp1407Arg) c.10672T>A (p.Trp3558Arg) c.4318T>A (p.Trp1440Arg) c.10903T>A (p.Trp3635Arg) c.4453T>A (p.Trp1485Arg) c.4438T>A (p.Trp1480Arg) c.10939T>A (p.Trp3647Arg) c.4426T>A (p.Trp1476Arg) c.10660T>A (p.Trp3554Arg) c.4378T>A (p.Trp1460Arg) c.4576T>A (p.Trp1526Arg) c.2167T>A (p.Trp723Arg) c.10759T>A (p.Trp3587Arg) c.4648T>A (p.Trp1550Arg) c.10795T>A (p.Trp3599Arg) c.4405T>A (p.Trp1469Arg) c.10597T>A (p.Trp3533Arg) c.4477T>A (p.Trp1493Arg) c.4021T>A (p.Trp1341Arg) c.2152T>A (p.Trp718Arg) c.10573T>A (p.Trp3525Arg) c.2131T>A (p.Trp711Arg) c.10804T>A (p.Trp3602Arg) c.4369T>A (p.Trp1457Arg) c.4111T>A (p.Trp1371Arg) c.10633T>A (p.Trp3545Arg) c.4603T>A (p.Trp1535Arg) c.560T>A c.1888T>A (p.Trp630Arg) n.712T>A c.559T>A (p.Trp187Arg) c.1607T>A c.*2219T>A (n.*2219T>A) c.10891T>A (p.Trp3631Arg) c.4600T>A (p.Trp1534Arg) c.10945T>A (p.Trp3649Arg) c.10909T>A (p.Trp3637Arg) c.4657T>A (p.Trp1553Arg) c.4690T>A (p.Trp1564Arg) c.4621T>A (p.Trp1541Arg) c.10885T>A (p.Trp3629Arg) c.10930T>A (p.Trp3644Arg) c.4615T>A (p.Trp1539Arg) c.4582T>A (p.Trp1528Arg) c.4645T>A (p.Trp1549Arg) c.4501T>A (p.Trp1501Arg) c.4681T>A (p.Trp1561Arg) c.4573T>A (p.Trp1525Arg) c.4537T>A (p.Trp1513Arg) c.4552T>A (p.Trp1518Arg) c.4462T>A (p.Trp1488Arg) c.4390T>A (p.Trp1464Arg) c.4474T>A (p.Trp1492Arg) c.4303T>A (p.Trp1435Arg) c.10975T>A (p.Trp3659Arg) c.10861T>A (p.Trp3621Arg) c.10831T>A (p.Trp3611Arg) c.10894T>A (p.Trp3632Arg) c.10624T>A (p.Trp3542Arg) c.4384T>A (p.Trp1462Arg) c.4429T>A (p.Trp1477Arg) c.4588T>A (p.Trp1530Arg) c.4660T>A (p.Trp1554Arg) c.4120T>A (p.Trp1374Arg) c.4447T>A (p.Trp1483Arg) c.7258T>A (p.Trp2420Arg) c.1003T>A (p.Trp335Arg) c.4468T>A (p.Trp1490Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113363439T= | CA2838018092 | ANK2 | c.10999T= (p.Trp3667=) c.4684T= (p.Trp1562=) c.1285T= (p.Trp429=) c.1783T= (p.Trp595=) n.2240T= n.1448T= n.2192T= n.1021T= n.2983T= n.1357T= n.7703T= n.2329T= n.2747T= c.10858T= (p.Trp3620=) c.10696T= (p.Trp3566=) c.1990T= (p.Trp664=) c.313T= (p.Trp105=) c.4417T= (p.Trp1473=) c.4504T= (p.Trp1502=) c.4441T= (p.Trp1481=) c.4639T= (p.Trp1547=) c.4540T= (p.Trp1514=) c.10732T= (p.Trp3578=) c.4342T= (p.Trp1448=) c.*96T= (n.*96T=) c.10675T= (p.Trp3559=) c.4219T= (p.Trp1407=) c.10672T= (p.Trp3558=) c.4318T= (p.Trp1440=) c.10903T= (p.Trp3635=) c.4453T= (p.Trp1485=) c.4438T= (p.Trp1480=) c.10939T= (p.Trp3647=) c.4426T= (p.Trp1476=) c.10660T= (p.Trp3554=) c.4378T= (p.Trp1460=) c.4576T= (p.Trp1526=) c.2167T= (p.Trp723=) c.10759T= (p.Trp3587=) c.4648T= (p.Trp1550=) c.10795T= (p.Trp3599=) c.4405T= (p.Trp1469=) c.10597T= (p.Trp3533=) c.4477T= (p.Trp1493=) c.4021T= (p.Trp1341=) c.2152T= (p.Trp718=) c.10573T= (p.Trp3525=) c.2131T= (p.Trp711=) c.10804T= (p.Trp3602=) c.4369T= (p.Trp1457=) c.4111T= (p.Trp1371=) c.10633T= (p.Trp3545=) c.4603T= (p.Trp1535=) c.560T= c.1888T= (p.Trp630=) n.712T= c.559T= (p.Trp187=) c.1607T= c.*2219T= (n.*2219T=) c.10891T= (p.Trp3631=) c.4600T= (p.Trp1534=) c.10945T= (p.Trp3649=) c.10909T= (p.Trp3637=) c.4657T= (p.Trp1553=) c.4690T= (p.Trp1564=) c.4621T= (p.Trp1541=) c.10885T= (p.Trp3629=) c.10930T= (p.Trp3644=) c.4615T= (p.Trp1539=) c.4582T= (p.Trp1528=) c.4645T= (p.Trp1549=) c.4501T= (p.Trp1501=) c.4681T= (p.Trp1561=) c.4573T= (p.Trp1525=) c.4537T= (p.Trp1513=) c.4552T= (p.Trp1518=) c.4462T= (p.Trp1488=) c.4390T= (p.Trp1464=) c.4474T= (p.Trp1492=) c.4303T= (p.Trp1435=) c.10975T= (p.Trp3659=) c.10861T= (p.Trp3621=) c.10831T= (p.Trp3611=) c.10894T= (p.Trp3632=) c.10624T= (p.Trp3542=) c.4384T= (p.Trp1462=) c.4429T= (p.Trp1477=) c.4588T= (p.Trp1530=) c.4660T= (p.Trp1554=) c.4120T= (p.Trp1374=) c.4447T= (p.Trp1483=) c.7258T= (p.Trp2420=) c.1003T= (p.Trp335=) c.4468T= (p.Trp1490=) | dbSNP |