Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113365051T>C | CA103821593 | ANK2 | c.11042T>C (p.Val3681Ala) c.4727T>C (p.Val1576Ala) c.1328T>C (p.Val443Ala) c.1826T>C (p.Val609Ala) n.2283T>C n.1491T>C n.2235T>C n.1064T>C n.3026T>C n.1400T>C n.7746T>C n.2372T>C n.356T>C n.2790T>C c.10901T>C (p.Val3634Ala) c.10739T>C (p.Val3580Ala) c.2033T>C (p.Val678Ala) c.356T>C (p.Val119Ala) c.4460T>C (p.Val1487Ala) c.4547T>C (p.Val1516Ala) c.4484T>C (p.Val1495Ala) c.4682T>C (p.Val1561Ala) c.4583T>C (p.Val1528Ala) c.10775T>C (p.Val3592Ala) c.4385T>C (p.Val1462Ala) c.*139T>C (n.*139T>C) c.10718T>C (p.Val3573Ala) c.4262T>C (p.Val1421Ala) c.10715T>C (p.Val3572Ala) c.4361T>C (p.Val1454Ala) c.10946T>C (p.Val3649Ala) c.4496T>C (p.Val1499Ala) c.4481T>C (p.Val1494Ala) c.10982T>C (p.Val3661Ala) c.4469T>C (p.Val1490Ala) c.10703T>C (p.Val3568Ala) c.4421T>C (p.Val1474Ala) c.4619T>C (p.Val1540Ala) c.2210T>C (p.Val737Ala) c.10802T>C (p.Val3601Ala) c.4691T>C (p.Val1564Ala) c.10838T>C (p.Val3613Ala) c.4448T>C (p.Val1483Ala) c.10640T>C (p.Val3547Ala) c.4520T>C (p.Val1507Ala) c.4064T>C (p.Val1355Ala) c.2195T>C (p.Val732Ala) c.10616T>C (p.Val3539Ala) c.2174T>C (p.Val725Ala) c.10847T>C (p.Val3616Ala) c.4412T>C (p.Val1471Ala) c.4154T>C (p.Val1385Ala) c.10676T>C (p.Val3559Ala) c.4646T>C (p.Val1549Ala) c.1931T>C (p.Val644Ala) n.755T>C c.602T>C (p.Val201Ala) c.1650T>C c.*2262T>C (n.*2262T>C) c.10934T>C (p.Val3645Ala) c.4643T>C (p.Val1548Ala) c.10988T>C (p.Val3663Ala) c.10952T>C (p.Val3651Ala) c.4700T>C (p.Val1567Ala) c.4733T>C (p.Val1578Ala) c.4664T>C (p.Val1555Ala) c.10928T>C (p.Val3643Ala) c.10973T>C (p.Val3658Ala) c.4658T>C (p.Val1553Ala) c.4625T>C (p.Val1542Ala) c.4688T>C (p.Val1563Ala) c.4544T>C (p.Val1515Ala) c.4724T>C (p.Val1575Ala) c.4616T>C (p.Val1539Ala) c.4580T>C (p.Val1527Ala) c.4595T>C (p.Val1532Ala) c.4505T>C (p.Val1502Ala) c.4433T>C (p.Val1478Ala) c.4517T>C (p.Val1506Ala) c.4346T>C (p.Val1449Ala) c.11018T>C (p.Val3673Ala) c.10904T>C (p.Val3635Ala) c.10874T>C (p.Val3625Ala) c.10937T>C (p.Val3646Ala) c.10667T>C (p.Val3556Ala) c.4427T>C (p.Val1476Ala) c.4472T>C (p.Val1491Ala) c.4631T>C (p.Val1544Ala) c.4703T>C (p.Val1568Ala) c.4163T>C (p.Val1388Ala) c.4490T>C (p.Val1497Ala) c.7301T>C (p.Val2434Ala) c.1046T>C (p.Val349Ala) c.4511T>C (p.Val1504Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.113365051T>A | CA145025 | ANK2 | c.11042T>A (p.Val3681Asp) c.4727T>A (p.Val1576Asp) c.1328T>A (p.Val443Asp) c.1826T>A (p.Val609Asp) n.2283T>A n.1491T>A n.2235T>A n.1064T>A n.3026T>A n.1400T>A n.7746T>A n.2372T>A n.356T>A n.2790T>A c.10901T>A (p.Val3634Asp) c.10739T>A (p.Val3580Asp) c.2033T>A (p.Val678Asp) c.356T>A (p.Val119Asp) c.4460T>A (p.Val1487Asp) c.4547T>A (p.Val1516Asp) c.4484T>A (p.Val1495Asp) c.4682T>A (p.Val1561Asp) c.4583T>A (p.Val1528Asp) c.10775T>A (p.Val3592Asp) c.4385T>A (p.Val1462Asp) c.*139T>A (n.*139T>A) c.10718T>A (p.Val3573Asp) c.4262T>A (p.Val1421Asp) c.10715T>A (p.Val3572Asp) c.4361T>A (p.Val1454Asp) c.10946T>A (p.Val3649Asp) c.4496T>A (p.Val1499Asp) c.4481T>A (p.Val1494Asp) c.10982T>A (p.Val3661Asp) c.4469T>A (p.Val1490Asp) c.10703T>A (p.Val3568Asp) c.4421T>A (p.Val1474Asp) c.4619T>A (p.Val1540Asp) c.2210T>A (p.Val737Asp) c.10802T>A (p.Val3601Asp) c.4691T>A (p.Val1564Asp) c.10838T>A (p.Val3613Asp) c.4448T>A (p.Val1483Asp) c.10640T>A (p.Val3547Asp) c.4520T>A (p.Val1507Asp) c.4064T>A (p.Val1355Asp) c.2195T>A (p.Val732Asp) c.10616T>A (p.Val3539Asp) c.2174T>A (p.Val725Asp) c.10847T>A (p.Val3616Asp) c.4412T>A (p.Val1471Asp) c.4154T>A (p.Val1385Asp) c.10676T>A (p.Val3559Asp) c.4646T>A (p.Val1549Asp) c.1931T>A (p.Val644Asp) n.755T>A c.602T>A (p.Val201Asp) c.1650T>A c.*2262T>A (n.*2262T>A) c.10934T>A (p.Val3645Asp) c.4643T>A (p.Val1548Asp) c.10988T>A (p.Val3663Asp) c.10952T>A (p.Val3651Asp) c.4700T>A (p.Val1567Asp) c.4733T>A (p.Val1578Asp) c.4664T>A (p.Val1555Asp) c.10928T>A (p.Val3643Asp) c.10973T>A (p.Val3658Asp) c.4658T>A (p.Val1553Asp) c.4625T>A (p.Val1542Asp) c.4688T>A (p.Val1563Asp) c.4544T>A (p.Val1515Asp) c.4724T>A (p.Val1575Asp) c.4616T>A (p.Val1539Asp) c.4580T>A (p.Val1527Asp) c.4595T>A (p.Val1532Asp) c.4505T>A (p.Val1502Asp) c.4433T>A (p.Val1478Asp) c.4517T>A (p.Val1506Asp) c.4346T>A (p.Val1449Asp) c.11018T>A (p.Val3673Asp) c.10904T>A (p.Val3635Asp) c.10874T>A (p.Val3625Asp) c.10937T>A (p.Val3646Asp) c.10667T>A (p.Val3556Asp) c.4427T>A (p.Val1476Asp) c.4472T>A (p.Val1491Asp) c.4631T>A (p.Val1544Asp) c.4703T>A (p.Val1568Asp) c.4163T>A (p.Val1388Asp) c.4490T>A (p.Val1497Asp) c.7301T>A (p.Val2434Asp) c.1046T>A (p.Val349Asp) c.4511T>A (p.Val1504Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.113365051T>G | CA357941497 | ANK2 | c.11042T>G (p.Val3681Gly) c.4727T>G (p.Val1576Gly) c.1328T>G (p.Val443Gly) c.1826T>G (p.Val609Gly) n.2283T>G n.1491T>G n.2235T>G n.1064T>G n.3026T>G n.1400T>G n.7746T>G n.2372T>G n.356T>G n.2790T>G c.10901T>G (p.Val3634Gly) c.10739T>G (p.Val3580Gly) c.2033T>G (p.Val678Gly) c.356T>G (p.Val119Gly) c.4460T>G (p.Val1487Gly) c.4547T>G (p.Val1516Gly) c.4484T>G (p.Val1495Gly) c.4682T>G (p.Val1561Gly) c.4583T>G (p.Val1528Gly) c.10775T>G (p.Val3592Gly) c.4385T>G (p.Val1462Gly) c.*139T>G (n.*139T>G) c.10718T>G (p.Val3573Gly) c.4262T>G (p.Val1421Gly) c.10715T>G (p.Val3572Gly) c.4361T>G (p.Val1454Gly) c.10946T>G (p.Val3649Gly) c.4496T>G (p.Val1499Gly) c.4481T>G (p.Val1494Gly) c.10982T>G (p.Val3661Gly) c.4469T>G (p.Val1490Gly) c.10703T>G (p.Val3568Gly) c.4421T>G (p.Val1474Gly) c.4619T>G (p.Val1540Gly) c.2210T>G (p.Val737Gly) c.10802T>G (p.Val3601Gly) c.4691T>G (p.Val1564Gly) c.10838T>G (p.Val3613Gly) c.4448T>G (p.Val1483Gly) c.10640T>G (p.Val3547Gly) c.4520T>G (p.Val1507Gly) c.4064T>G (p.Val1355Gly) c.2195T>G (p.Val732Gly) c.10616T>G (p.Val3539Gly) c.2174T>G (p.Val725Gly) c.10847T>G (p.Val3616Gly) c.4412T>G (p.Val1471Gly) c.4154T>G (p.Val1385Gly) c.10676T>G (p.Val3559Gly) c.4646T>G (p.Val1549Gly) c.1931T>G (p.Val644Gly) n.755T>G c.602T>G (p.Val201Gly) c.1650T>G c.*2262T>G (n.*2262T>G) c.10934T>G (p.Val3645Gly) c.4643T>G (p.Val1548Gly) c.10988T>G (p.Val3663Gly) c.10952T>G (p.Val3651Gly) c.4700T>G (p.Val1567Gly) c.4733T>G (p.Val1578Gly) c.4664T>G (p.Val1555Gly) c.10928T>G (p.Val3643Gly) c.10973T>G (p.Val3658Gly) c.4658T>G (p.Val1553Gly) c.4625T>G (p.Val1542Gly) c.4688T>G (p.Val1563Gly) c.4544T>G (p.Val1515Gly) c.4724T>G (p.Val1575Gly) c.4616T>G (p.Val1539Gly) c.4580T>G (p.Val1527Gly) c.4595T>G (p.Val1532Gly) c.4505T>G (p.Val1502Gly) c.4433T>G (p.Val1478Gly) c.4517T>G (p.Val1506Gly) c.4346T>G (p.Val1449Gly) c.11018T>G (p.Val3673Gly) c.10904T>G (p.Val3635Gly) c.10874T>G (p.Val3625Gly) c.10937T>G (p.Val3646Gly) c.10667T>G (p.Val3556Gly) c.4427T>G (p.Val1476Gly) c.4472T>G (p.Val1491Gly) c.4631T>G (p.Val1544Gly) c.4703T>G (p.Val1568Gly) c.4163T>G (p.Val1388Gly) c.4490T>G (p.Val1497Gly) c.7301T>G (p.Val2434Gly) c.1046T>G (p.Val349Gly) c.4511T>G (p.Val1504Gly) | dbSNP |