Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113365050G>TCA357941496ANK2c.11041G>T (p.Val3681Phe)
c.4726G>T (p.Val1576Phe)
c.1327G>T (p.Val443Phe)
c.1825G>T (p.Val609Phe)
n.2282G>T
n.1490G>T
n.2234G>T
n.1063G>T
n.3025G>T
n.1399G>T
n.7745G>T
n.2371G>T
n.355G>T
n.2789G>T
c.10900G>T (p.Val3634Phe)
c.10738G>T (p.Val3580Phe)
c.2032G>T (p.Val678Phe)
c.355G>T (p.Val119Phe)
c.4459G>T (p.Val1487Phe)
c.4546G>T (p.Val1516Phe)
c.4483G>T (p.Val1495Phe)
c.4681G>T (p.Val1561Phe)
c.4582G>T (p.Val1528Phe)
c.10774G>T (p.Val3592Phe)
c.4384G>T (p.Val1462Phe)
c.*138G>T (n.*138G>T)
c.10717G>T (p.Val3573Phe)
c.4261G>T (p.Val1421Phe)
c.10714G>T (p.Val3572Phe)
c.4360G>T (p.Val1454Phe)
c.10945G>T (p.Val3649Phe)
c.4495G>T (p.Val1499Phe)
c.4480G>T (p.Val1494Phe)
c.10981G>T (p.Val3661Phe)
c.4468G>T (p.Val1490Phe)
c.10702G>T (p.Val3568Phe)
c.4420G>T (p.Val1474Phe)
c.4618G>T (p.Val1540Phe)
c.2209G>T (p.Val737Phe)
c.10801G>T (p.Val3601Phe)
c.4690G>T (p.Val1564Phe)
c.10837G>T (p.Val3613Phe)
c.4447G>T (p.Val1483Phe)
c.10639G>T (p.Val3547Phe)
c.4519G>T (p.Val1507Phe)
c.4063G>T (p.Val1355Phe)
c.2194G>T (p.Val732Phe)
c.10615G>T (p.Val3539Phe)
c.2173G>T (p.Val725Phe)
c.10846G>T (p.Val3616Phe)
c.4411G>T (p.Val1471Phe)
c.4153G>T (p.Val1385Phe)
c.10675G>T (p.Val3559Phe)
c.4645G>T (p.Val1549Phe)
c.1930G>T (p.Val644Phe)
n.754G>T
c.601G>T (p.Val201Phe)
c.1649G>T
c.*2261G>T (n.*2261G>T)
c.10933G>T (p.Val3645Phe)
c.4642G>T (p.Val1548Phe)
c.10987G>T (p.Val3663Phe)
c.10951G>T (p.Val3651Phe)
c.4699G>T (p.Val1567Phe)
c.4732G>T (p.Val1578Phe)
c.4663G>T (p.Val1555Phe)
c.10927G>T (p.Val3643Phe)
c.10972G>T (p.Val3658Phe)
c.4657G>T (p.Val1553Phe)
c.4624G>T (p.Val1542Phe)
c.4687G>T (p.Val1563Phe)
c.4543G>T (p.Val1515Phe)
c.4723G>T (p.Val1575Phe)
c.4615G>T (p.Val1539Phe)
c.4579G>T (p.Val1527Phe)
c.4594G>T (p.Val1532Phe)
c.4504G>T (p.Val1502Phe)
c.4432G>T (p.Val1478Phe)
c.4516G>T (p.Val1506Phe)
c.4345G>T (p.Val1449Phe)
c.11017G>T (p.Val3673Phe)
c.10903G>T (p.Val3635Phe)
c.10873G>T (p.Val3625Phe)
c.10936G>T (p.Val3646Phe)
c.10666G>T (p.Val3556Phe)
c.4426G>T (p.Val1476Phe)
c.4471G>T (p.Val1491Phe)
c.4630G>T (p.Val1544Phe)
c.4702G>T (p.Val1568Phe)
c.4162G>T (p.Val1388Phe)
c.4489G>T (p.Val1497Phe)
c.7300G>T (p.Val2434Phe)
c.1045G>T (p.Val349Phe)
c.4510G>T (p.Val1504Phe)
 dbSNP
4g.113365050G>ACA329725ANK2c.11041G>A (p.Val3681Ile)
c.4726G>A (p.Val1576Ile)
c.1327G>A (p.Val443Ile)
c.1825G>A (p.Val609Ile)
n.2282G>A
n.1490G>A
n.2234G>A
n.1063G>A
n.3025G>A
n.1399G>A
n.7745G>A
n.2371G>A
n.355G>A
n.2789G>A
c.10900G>A (p.Val3634Ile)
c.10738G>A (p.Val3580Ile)
c.2032G>A (p.Val678Ile)
c.355G>A (p.Val119Ile)
c.4459G>A (p.Val1487Ile)
c.4546G>A (p.Val1516Ile)
c.4483G>A (p.Val1495Ile)
c.4681G>A (p.Val1561Ile)
c.4582G>A (p.Val1528Ile)
c.10774G>A (p.Val3592Ile)
c.4384G>A (p.Val1462Ile)
c.*138G>A (n.*138G>A)
c.10717G>A (p.Val3573Ile)
c.4261G>A (p.Val1421Ile)
c.10714G>A (p.Val3572Ile)
c.4360G>A (p.Val1454Ile)
c.10945G>A (p.Val3649Ile)
c.4495G>A (p.Val1499Ile)
c.4480G>A (p.Val1494Ile)
c.10981G>A (p.Val3661Ile)
c.4468G>A (p.Val1490Ile)
c.10702G>A (p.Val3568Ile)
c.4420G>A (p.Val1474Ile)
c.4618G>A (p.Val1540Ile)
c.2209G>A (p.Val737Ile)
c.10801G>A (p.Val3601Ile)
c.4690G>A (p.Val1564Ile)
c.10837G>A (p.Val3613Ile)
c.4447G>A (p.Val1483Ile)
c.10639G>A (p.Val3547Ile)
c.4519G>A (p.Val1507Ile)
c.4063G>A (p.Val1355Ile)
c.2194G>A (p.Val732Ile)
c.10615G>A (p.Val3539Ile)
c.2173G>A (p.Val725Ile)
c.10846G>A (p.Val3616Ile)
c.4411G>A (p.Val1471Ile)
c.4153G>A (p.Val1385Ile)
c.10675G>A (p.Val3559Ile)
c.4645G>A (p.Val1549Ile)
c.1930G>A (p.Val644Ile)
n.754G>A
c.601G>A (p.Val201Ile)
c.1649G>A
c.*2261G>A (n.*2261G>A)
c.10933G>A (p.Val3645Ile)
c.4642G>A (p.Val1548Ile)
c.10987G>A (p.Val3663Ile)
c.10951G>A (p.Val3651Ile)
c.4699G>A (p.Val1567Ile)
c.4732G>A (p.Val1578Ile)
c.4663G>A (p.Val1555Ile)
c.10927G>A (p.Val3643Ile)
c.10972G>A (p.Val3658Ile)
c.4657G>A (p.Val1553Ile)
c.4624G>A (p.Val1542Ile)
c.4687G>A (p.Val1563Ile)
c.4543G>A (p.Val1515Ile)
c.4723G>A (p.Val1575Ile)
c.4615G>A (p.Val1539Ile)
c.4579G>A (p.Val1527Ile)
c.4594G>A (p.Val1532Ile)
c.4504G>A (p.Val1502Ile)
c.4432G>A (p.Val1478Ile)
c.4516G>A (p.Val1506Ile)
c.4345G>A (p.Val1449Ile)
c.11017G>A (p.Val3673Ile)
c.10903G>A (p.Val3635Ile)
c.10873G>A (p.Val3625Ile)
c.10936G>A (p.Val3646Ile)
c.10666G>A (p.Val3556Ile)
c.4426G>A (p.Val1476Ile)
c.4471G>A (p.Val1491Ile)
c.4630G>A (p.Val1544Ile)
c.4702G>A (p.Val1568Ile)
c.4162G>A (p.Val1388Ile)
c.4489G>A (p.Val1497Ile)
c.7300G>A (p.Val2434Ile)
c.1045G>A (p.Val349Ile)
c.4510G>A (p.Val1504Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.113365050G>CCA357941495ANK2c.11041G>C (p.Val3681Leu)
c.4726G>C (p.Val1576Leu)
c.1327G>C (p.Val443Leu)
c.1825G>C (p.Val609Leu)
n.2282G>C
n.1490G>C
n.2234G>C
n.1063G>C
n.3025G>C
n.1399G>C
n.7745G>C
n.2371G>C
n.355G>C
n.2789G>C
c.10900G>C (p.Val3634Leu)
c.10738G>C (p.Val3580Leu)
c.2032G>C (p.Val678Leu)
c.355G>C (p.Val119Leu)
c.4459G>C (p.Val1487Leu)
c.4546G>C (p.Val1516Leu)
c.4483G>C (p.Val1495Leu)
c.4681G>C (p.Val1561Leu)
c.4582G>C (p.Val1528Leu)
c.10774G>C (p.Val3592Leu)
c.4384G>C (p.Val1462Leu)
c.*138G>C (n.*138G>C)
c.10717G>C (p.Val3573Leu)
c.4261G>C (p.Val1421Leu)
c.10714G>C (p.Val3572Leu)
c.4360G>C (p.Val1454Leu)
c.10945G>C (p.Val3649Leu)
c.4495G>C (p.Val1499Leu)
c.4480G>C (p.Val1494Leu)
c.10981G>C (p.Val3661Leu)
c.4468G>C (p.Val1490Leu)
c.10702G>C (p.Val3568Leu)
c.4420G>C (p.Val1474Leu)
c.4618G>C (p.Val1540Leu)
c.2209G>C (p.Val737Leu)
c.10801G>C (p.Val3601Leu)
c.4690G>C (p.Val1564Leu)
c.10837G>C (p.Val3613Leu)
c.4447G>C (p.Val1483Leu)
c.10639G>C (p.Val3547Leu)
c.4519G>C (p.Val1507Leu)
c.4063G>C (p.Val1355Leu)
c.2194G>C (p.Val732Leu)
c.10615G>C (p.Val3539Leu)
c.2173G>C (p.Val725Leu)
c.10846G>C (p.Val3616Leu)
c.4411G>C (p.Val1471Leu)
c.4153G>C (p.Val1385Leu)
c.10675G>C (p.Val3559Leu)
c.4645G>C (p.Val1549Leu)
c.1930G>C (p.Val644Leu)
n.754G>C
c.601G>C (p.Val201Leu)
c.1649G>C
c.*2261G>C (n.*2261G>C)
c.10933G>C (p.Val3645Leu)
c.4642G>C (p.Val1548Leu)
c.10987G>C (p.Val3663Leu)
c.10951G>C (p.Val3651Leu)
c.4699G>C (p.Val1567Leu)
c.4732G>C (p.Val1578Leu)
c.4663G>C (p.Val1555Leu)
c.10927G>C (p.Val3643Leu)
c.10972G>C (p.Val3658Leu)
c.4657G>C (p.Val1553Leu)
c.4624G>C (p.Val1542Leu)
c.4687G>C (p.Val1563Leu)
c.4543G>C (p.Val1515Leu)
c.4723G>C (p.Val1575Leu)
c.4615G>C (p.Val1539Leu)
c.4579G>C (p.Val1527Leu)
c.4594G>C (p.Val1532Leu)
c.4504G>C (p.Val1502Leu)
c.4432G>C (p.Val1478Leu)
c.4516G>C (p.Val1506Leu)
c.4345G>C (p.Val1449Leu)
c.11017G>C (p.Val3673Leu)
c.10903G>C (p.Val3635Leu)
c.10873G>C (p.Val3625Leu)
c.10936G>C (p.Val3646Leu)
c.10666G>C (p.Val3556Leu)
c.4426G>C (p.Val1476Leu)
c.4471G>C (p.Val1491Leu)
c.4630G>C (p.Val1544Leu)
c.4702G>C (p.Val1568Leu)
c.4162G>C (p.Val1388Leu)
c.4489G>C (p.Val1497Leu)
c.7300G>C (p.Val2434Leu)
c.1045G>C (p.Val349Leu)
c.4510G>C (p.Val1504Leu)
 dbSNP

Number of alleles fetched