Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113365051T>CCA103821593ANK2c.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)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.113365051T>ACA145025ANK2c.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
4g.113365051T>GCA357941497ANK2c.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
4g.113365051T=CA2580589640ANK2c.11042T= (p.Val3681=)
c.4727T= (p.Val1576=)
c.1328T= (p.Val443=)
c.1826T= (p.Val609=)
n.2283T=
n.1491T=
n.2235T=
n.1064T=
n.3026T=
n.1400T=
n.7746T=
n.2372T=
n.356T=
n.2790T=
c.10901T= (p.Val3634=)
c.10739T= (p.Val3580=)
c.2033T= (p.Val678=)
c.356T= (p.Val119=)
c.4460T= (p.Val1487=)
c.4547T= (p.Val1516=)
c.4484T= (p.Val1495=)
c.4682T= (p.Val1561=)
c.4583T= (p.Val1528=)
c.10775T= (p.Val3592=)
c.4385T= (p.Val1462=)
c.*139T= (n.*139T=)
c.10718T= (p.Val3573=)
c.4262T= (p.Val1421=)
c.10715T= (p.Val3572=)
c.4361T= (p.Val1454=)
c.10946T= (p.Val3649=)
c.4496T= (p.Val1499=)
c.4481T= (p.Val1494=)
c.10982T= (p.Val3661=)
c.4469T= (p.Val1490=)
c.10703T= (p.Val3568=)
c.4421T= (p.Val1474=)
c.4619T= (p.Val1540=)
c.2210T= (p.Val737=)
c.10802T= (p.Val3601=)
c.4691T= (p.Val1564=)
c.10838T= (p.Val3613=)
c.4448T= (p.Val1483=)
c.10640T= (p.Val3547=)
c.4520T= (p.Val1507=)
c.4064T= (p.Val1355=)
c.2195T= (p.Val732=)
c.10616T= (p.Val3539=)
c.2174T= (p.Val725=)
c.10847T= (p.Val3616=)
c.4412T= (p.Val1471=)
c.4154T= (p.Val1385=)
c.10676T= (p.Val3559=)
c.4646T= (p.Val1549=)
c.1931T= (p.Val644=)
n.755T=
c.602T= (p.Val201=)
c.1650T=
c.*2262T= (n.*2262T=)
c.10934T= (p.Val3645=)
c.4643T= (p.Val1548=)
c.10988T= (p.Val3663=)
c.10952T= (p.Val3651=)
c.4700T= (p.Val1567=)
c.4733T= (p.Val1578=)
c.4664T= (p.Val1555=)
c.10928T= (p.Val3643=)
c.10973T= (p.Val3658=)
c.4658T= (p.Val1553=)
c.4625T= (p.Val1542=)
c.4688T= (p.Val1563=)
c.4544T= (p.Val1515=)
c.4724T= (p.Val1575=)
c.4616T= (p.Val1539=)
c.4580T= (p.Val1527=)
c.4595T= (p.Val1532=)
c.4505T= (p.Val1502=)
c.4433T= (p.Val1478=)
c.4517T= (p.Val1506=)
c.4346T= (p.Val1449=)
c.11018T= (p.Val3673=)
c.10904T= (p.Val3635=)
c.10874T= (p.Val3625=)
c.10937T= (p.Val3646=)
c.10667T= (p.Val3556=)
c.4427T= (p.Val1476=)
c.4472T= (p.Val1491=)
c.4631T= (p.Val1544=)
c.4703T= (p.Val1568=)
c.4163T= (p.Val1388=)
c.4490T= (p.Val1497=)
c.7301T= (p.Val2434=)
c.1046T= (p.Val349=)
c.4511T= (p.Val1504=)
 dbSNP

Number of alleles fetched