Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113367751C>ACA199910ANK2c.11359C>A (p.Leu3787Ile)
c.5044C>A (p.Leu1682Ile)
c.1645C>A (p.Leu549Ile)
c.2143C>A (p.Leu715Ile)
n.2600C>A
n.1808C>A
n.2552C>A
n.1381C>A
n.3343C>A
n.1324C>A
n.1717C>A
n.8063C>A
n.2689C>A
n.673C>A
n.3107C>A
n.1322C>A
c.11218C>A (p.Leu3740Ile)
c.11056C>A (p.Leu3686Ile)
c.2350C>A (p.Leu784Ile)
c.673C>A (p.Leu225Ile)
c.4777C>A (p.Leu1593Ile)
c.4864C>A (p.Leu1622Ile)
c.4801C>A (p.Leu1601Ile)
c.4999C>A (p.Leu1667Ile)
c.4900C>A (p.Leu1634Ile)
c.11092C>A (p.Leu3698Ile)
c.4702C>A (p.Leu1568Ile)
c.*456C>A (n.*456C>A)
c.11035C>A (p.Leu3679Ile)
c.4579C>A (p.Leu1527Ile)
c.11032C>A (p.Leu3678Ile)
c.4678C>A (p.Leu1560Ile)
c.11263C>A (p.Leu3755Ile)
c.4813C>A (p.Leu1605Ile)
c.4798C>A (p.Leu1600Ile)
c.11299C>A (p.Leu3767Ile)
c.4786C>A (p.Leu1596Ile)
c.11020C>A (p.Leu3674Ile)
c.4738C>A (p.Leu1580Ile)
c.4936C>A (p.Leu1646Ile)
c.2527C>A (p.Leu843Ile)
c.11119C>A (p.Leu3707Ile)
c.5008C>A (p.Leu1670Ile)
c.11155C>A (p.Leu3719Ile)
c.4765C>A (p.Leu1589Ile)
c.10957C>A (p.Leu3653Ile)
c.4837C>A (p.Leu1613Ile)
c.4381C>A (p.Leu1461Ile)
c.2512C>A (p.Leu838Ile)
c.10933C>A (p.Leu3645Ile)
c.2491C>A (p.Leu831Ile)
c.11164C>A (p.Leu3722Ile)
c.4729C>A (p.Leu1577Ile)
c.4471C>A (p.Leu1491Ile)
c.10993C>A (p.Leu3665Ile)
c.4963C>A (p.Leu1655Ile)
c.2248C>A (p.Leu750Ile)
c.919C>A (p.Leu307Ile)
c.1967C>A
c.*2579C>A (n.*2579C>A)
c.11251C>A (p.Leu3751Ile)
c.4960C>A (p.Leu1654Ile)
c.11305C>A (p.Leu3769Ile)
c.11269C>A (p.Leu3757Ile)
c.5017C>A (p.Leu1673Ile)
c.5050C>A (p.Leu1684Ile)
c.4981C>A (p.Leu1661Ile)
c.11245C>A (p.Leu3749Ile)
c.11290C>A (p.Leu3764Ile)
c.4975C>A (p.Leu1659Ile)
c.4942C>A (p.Leu1648Ile)
c.5005C>A (p.Leu1669Ile)
c.4861C>A (p.Leu1621Ile)
c.5041C>A (p.Leu1681Ile)
c.4933C>A (p.Leu1645Ile)
c.4897C>A (p.Leu1633Ile)
c.4912C>A (p.Leu1638Ile)
c.4822C>A (p.Leu1608Ile)
c.4750C>A (p.Leu1584Ile)
c.4834C>A (p.Leu1612Ile)
c.4663C>A (p.Leu1555Ile)
c.11335C>A (p.Leu3779Ile)
c.11221C>A (p.Leu3741Ile)
c.11191C>A (p.Leu3731Ile)
c.11254C>A (p.Leu3752Ile)
c.10984C>A (p.Leu3662Ile)
c.4744C>A (p.Leu1582Ile)
c.4789C>A (p.Leu1597Ile)
c.4948C>A (p.Leu1650Ile)
c.5020C>A (p.Leu1674Ile)
c.4480C>A (p.Leu1494Ile)
c.4807C>A (p.Leu1603Ile)
c.7618C>A (p.Leu2540Ile)
c.1363C>A (p.Leu455Ile)
c.4828C>A (p.Leu1610Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113367751C>TCA357942221ANK2c.11359C>T (p.Leu3787Phe)
c.5044C>T (p.Leu1682Phe)
c.1645C>T (p.Leu549Phe)
c.2143C>T (p.Leu715Phe)
n.2600C>T
n.1808C>T
n.2552C>T
n.1381C>T
n.3343C>T
n.1324C>T
n.1717C>T
n.8063C>T
n.2689C>T
n.673C>T
n.3107C>T
n.1322C>T
c.11218C>T (p.Leu3740Phe)
c.11056C>T (p.Leu3686Phe)
c.2350C>T (p.Leu784Phe)
c.673C>T (p.Leu225Phe)
c.4777C>T (p.Leu1593Phe)
c.4864C>T (p.Leu1622Phe)
c.4801C>T (p.Leu1601Phe)
c.4999C>T (p.Leu1667Phe)
c.4900C>T (p.Leu1634Phe)
c.11092C>T (p.Leu3698Phe)
c.4702C>T (p.Leu1568Phe)
c.*456C>T (n.*456C>T)
c.11035C>T (p.Leu3679Phe)
c.4579C>T (p.Leu1527Phe)
c.11032C>T (p.Leu3678Phe)
c.4678C>T (p.Leu1560Phe)
c.11263C>T (p.Leu3755Phe)
c.4813C>T (p.Leu1605Phe)
c.4798C>T (p.Leu1600Phe)
c.11299C>T (p.Leu3767Phe)
c.4786C>T (p.Leu1596Phe)
c.11020C>T (p.Leu3674Phe)
c.4738C>T (p.Leu1580Phe)
c.4936C>T (p.Leu1646Phe)
c.2527C>T (p.Leu843Phe)
c.11119C>T (p.Leu3707Phe)
c.5008C>T (p.Leu1670Phe)
c.11155C>T (p.Leu3719Phe)
c.4765C>T (p.Leu1589Phe)
c.10957C>T (p.Leu3653Phe)
c.4837C>T (p.Leu1613Phe)
c.4381C>T (p.Leu1461Phe)
c.2512C>T (p.Leu838Phe)
c.10933C>T (p.Leu3645Phe)
c.2491C>T (p.Leu831Phe)
c.11164C>T (p.Leu3722Phe)
c.4729C>T (p.Leu1577Phe)
c.4471C>T (p.Leu1491Phe)
c.10993C>T (p.Leu3665Phe)
c.4963C>T (p.Leu1655Phe)
c.2248C>T (p.Leu750Phe)
c.919C>T (p.Leu307Phe)
c.1967C>T
c.*2579C>T (n.*2579C>T)
c.11251C>T (p.Leu3751Phe)
c.4960C>T (p.Leu1654Phe)
c.11305C>T (p.Leu3769Phe)
c.11269C>T (p.Leu3757Phe)
c.5017C>T (p.Leu1673Phe)
c.5050C>T (p.Leu1684Phe)
c.4981C>T (p.Leu1661Phe)
c.11245C>T (p.Leu3749Phe)
c.11290C>T (p.Leu3764Phe)
c.4975C>T (p.Leu1659Phe)
c.4942C>T (p.Leu1648Phe)
c.5005C>T (p.Leu1669Phe)
c.4861C>T (p.Leu1621Phe)
c.5041C>T (p.Leu1681Phe)
c.4933C>T (p.Leu1645Phe)
c.4897C>T (p.Leu1633Phe)
c.4912C>T (p.Leu1638Phe)
c.4822C>T (p.Leu1608Phe)
c.4750C>T (p.Leu1584Phe)
c.4834C>T (p.Leu1612Phe)
c.4663C>T (p.Leu1555Phe)
c.11335C>T (p.Leu3779Phe)
c.11221C>T (p.Leu3741Phe)
c.11191C>T (p.Leu3731Phe)
c.11254C>T (p.Leu3752Phe)
c.10984C>T (p.Leu3662Phe)
c.4744C>T (p.Leu1582Phe)
c.4789C>T (p.Leu1597Phe)
c.4948C>T (p.Leu1650Phe)
c.5020C>T (p.Leu1674Phe)
c.4480C>T (p.Leu1494Phe)
c.4807C>T (p.Leu1603Phe)
c.7618C>T (p.Leu2540Phe)
c.1363C>T (p.Leu455Phe)
c.4828C>T (p.Leu1610Phe)
 dbSNP gnomAD v4
4g.113367751C=CA3111520601ANK2c.11359C= (p.Leu3787=)
c.5044C= (p.Leu1682=)
c.1645C= (p.Leu549=)
c.2143C= (p.Leu715=)
n.2600C=
n.1808C=
n.2552C=
n.1381C=
n.3343C=
n.1324C=
n.1717C=
n.8063C=
n.2689C=
n.673C=
n.3107C=
n.1322C=
c.11218C= (p.Leu3740=)
c.11056C= (p.Leu3686=)
c.2350C= (p.Leu784=)
c.673C= (p.Leu225=)
c.4777C= (p.Leu1593=)
c.4864C= (p.Leu1622=)
c.4801C= (p.Leu1601=)
c.4999C= (p.Leu1667=)
c.4900C= (p.Leu1634=)
c.11092C= (p.Leu3698=)
c.4702C= (p.Leu1568=)
c.*456C= (n.*456C=)
c.11035C= (p.Leu3679=)
c.4579C= (p.Leu1527=)
c.11032C= (p.Leu3678=)
c.4678C= (p.Leu1560=)
c.11263C= (p.Leu3755=)
c.4813C= (p.Leu1605=)
c.4798C= (p.Leu1600=)
c.11299C= (p.Leu3767=)
c.4786C= (p.Leu1596=)
c.11020C= (p.Leu3674=)
c.4738C= (p.Leu1580=)
c.4936C= (p.Leu1646=)
c.2527C= (p.Leu843=)
c.11119C= (p.Leu3707=)
c.5008C= (p.Leu1670=)
c.11155C= (p.Leu3719=)
c.4765C= (p.Leu1589=)
c.10957C= (p.Leu3653=)
c.4837C= (p.Leu1613=)
c.4381C= (p.Leu1461=)
c.2512C= (p.Leu838=)
c.10933C= (p.Leu3645=)
c.2491C= (p.Leu831=)
c.11164C= (p.Leu3722=)
c.4729C= (p.Leu1577=)
c.4471C= (p.Leu1491=)
c.10993C= (p.Leu3665=)
c.4963C= (p.Leu1655=)
c.2248C= (p.Leu750=)
c.919C= (p.Leu307=)
c.1967C=
c.*2579C= (n.*2579C=)
c.11251C= (p.Leu3751=)
c.4960C= (p.Leu1654=)
c.11305C= (p.Leu3769=)
c.11269C= (p.Leu3757=)
c.5017C= (p.Leu1673=)
c.5050C= (p.Leu1684=)
c.4981C= (p.Leu1661=)
c.11245C= (p.Leu3749=)
c.11290C= (p.Leu3764=)
c.4975C= (p.Leu1659=)
c.4942C= (p.Leu1648=)
c.5005C= (p.Leu1669=)
c.4861C= (p.Leu1621=)
c.5041C= (p.Leu1681=)
c.4933C= (p.Leu1645=)
c.4897C= (p.Leu1633=)
c.4912C= (p.Leu1638=)
c.4822C= (p.Leu1608=)
c.4750C= (p.Leu1584=)
c.4834C= (p.Leu1612=)
c.4663C= (p.Leu1555=)
c.11335C= (p.Leu3779=)
c.11221C= (p.Leu3741=)
c.11191C= (p.Leu3731=)
c.11254C= (p.Leu3752=)
c.10984C= (p.Leu3662=)
c.4744C= (p.Leu1582=)
c.4789C= (p.Leu1597=)
c.4948C= (p.Leu1650=)
c.5020C= (p.Leu1674=)
c.4480C= (p.Leu1494=)
c.4807C= (p.Leu1603=)
c.7618C= (p.Leu2540=)
c.1363C= (p.Leu455=)
c.4828C= (p.Leu1610=)
 dbSNP

Number of alleles fetched