Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113373162G>CCA199816ANK2c.11917G>C (p.Val3973Leu)
c.5509G>C (p.Val1837Leu)
c.2037+3357G>C (n.2037+3357G>C)
c.2608G>C (p.Val870Leu)
n.3065G>C
n.2273G>C
n.6301G>C
n.1846G>C
n.2486G>C
n.3735+3357G>C
n.1789G>C
n.2182G>C
n.8528G>C
n.3154G>C
n.3461G>C
n.4422G>C
n.3665G>C
n.5071G>C
c.11683G>C (p.Val3895Leu)
c.11521G>C (p.Val3841Leu)
c.2815G>C (p.Val939Leu)
c.1231G>C (p.Val411Leu)
c.5242G>C (p.Val1748Leu)
c.5422G>C (p.Val1808Leu)
c.5266G>C (p.Val1756Leu)
c.5557G>C (p.Val1853Leu)
c.5458G>C (p.Val1820Leu)
c.11557G>C (p.Val3853Leu)
c.5365G>C (p.Val1789Leu)
c.5167G>C (p.Val1723Leu)
c.*921G>C (n.*921G>C)
c.11428-1602G>C (n.11428-1602G>C)
c.5044G>C (p.Val1682Leu)
c.11497G>C (p.Val3833Leu)
c.5143G>C (p.Val1715Leu)
c.11728G>C (p.Val3910Leu)
c.11614G>C (p.Val3872Leu)
c.5278G>C (p.Val1760Leu)
c.5263G>C (p.Val1755Leu)
c.11764G>C (p.Val3922Leu)
c.5251G>C (p.Val1751Leu)
c.11485G>C (p.Val3829Leu)
c.5292+3357G>C (n.5292+3357G>C)
c.5203G>C (p.Val1735Leu)
c.5494G>C (p.Val1832Leu)
c.5329G>C (p.Val1777Leu)
c.2992G>C (p.Val998Leu)
c.11584G>C (p.Val3862Leu)
c.5473G>C (p.Val1825Leu)
c.5359G>C (p.Val1787Leu)
c.11620G>C (p.Val3874Leu)
c.5230G>C (p.Val1744Leu)
c.11422G>C (p.Val3808Leu)
c.5302G>C (p.Val1768Leu)
c.4846G>C (p.Val1616Leu)
c.2977G>C (p.Val993Leu)
c.11398G>C (p.Val3800Leu)
c.11448+3357G>C (n.11448+3357G>C)
c.2956G>C (p.Val986Leu)
c.11629G>C (p.Val3877Leu)
c.5287G>C (p.Val1763Leu)
c.4936G>C (p.Val1646Leu)
c.11458G>C (p.Val3820Leu)
c.5428G>C (p.Val1810Leu)
c.2713G>C (p.Val905Leu)
c.5401G>C (p.Val1801Leu)
c.1477G>C (p.Val493Leu)
c.2525G>C
c.*3044G>C (n.*3044G>C)
c.11809G>C (p.Val3937Leu)
c.5425G>C (p.Val1809Leu)
c.11863G>C (p.Val3955Leu)
c.11827G>C (p.Val3943Leu)
c.5575G>C (p.Val1859Leu)
c.5515G>C (p.Val1839Leu)
c.5539G>C (p.Val1847Leu)
c.11803G>C (p.Val3935Leu)
c.11848G>C (p.Val3950Leu)
c.5440G>C (p.Val1814Leu)
c.5407G>C (p.Val1803Leu)
c.5563G>C (p.Val1855Leu)
c.5518G>C (p.Val1840Leu)
c.5326G>C (p.Val1776Leu)
c.5506G>C (p.Val1836Leu)
c.5491G>C (p.Val1831Leu)
c.5470G>C (p.Val1824Leu)
c.5455G>C (p.Val1819Leu)
c.5398G>C (p.Val1800Leu)
c.5377G>C (p.Val1793Leu)
c.5362G>C (p.Val1788Leu)
c.5215G>C (p.Val1739Leu)
c.5299G>C (p.Val1767Leu)
c.5128G>C (p.Val1710Leu)
c.11893G>C (p.Val3965Leu)
c.11779G>C (p.Val3927Leu)
c.11776G>C (p.Val3926Leu)
c.11749G>C (p.Val3917Leu)
c.11713G>C (p.Val3905Leu)
c.11590G>C (p.Val3864Leu)
c.11812G>C (p.Val3938Leu)
c.11449G>C (p.Val3817Leu)
c.5566G>C (p.Val1856Leu)
c.5254G>C (p.Val1752Leu)
c.5413G>C (p.Val1805Leu)
c.5209G>C (p.Val1737Leu)
c.5236G>C (p.Val1746Leu)
c.5412+3357G>C (n.5412+3357G>C)
c.5194G>C (p.Val1732Leu)
c.4945G>C (p.Val1649Leu)
c.5272G>C (p.Val1758Leu)
c.8083G>C (p.Val2695Leu)
c.1921G>C (p.Val641Leu)
c.5293G>C (p.Val1765Leu)
ClinVar dbSNP
4g.113373162G>ACA145035ANK2c.11917G>A (p.Val3973Met)
c.5509G>A (p.Val1837Met)
c.2037+3357G>A (n.2037+3357G>A)
c.2608G>A (p.Val870Met)
n.3065G>A
n.2273G>A
n.6301G>A
n.1846G>A
n.2486G>A
n.3735+3357G>A
n.1789G>A
n.2182G>A
n.8528G>A
n.3154G>A
n.3461G>A
n.4422G>A
n.3665G>A
n.5071G>A
c.11683G>A (p.Val3895Met)
c.11521G>A (p.Val3841Met)
c.2815G>A (p.Val939Met)
c.1231G>A (p.Val411Met)
c.5242G>A (p.Val1748Met)
c.5422G>A (p.Val1808Met)
c.5266G>A (p.Val1756Met)
c.5557G>A (p.Val1853Met)
c.5458G>A (p.Val1820Met)
c.11557G>A (p.Val3853Met)
c.5365G>A (p.Val1789Met)
c.5167G>A (p.Val1723Met)
c.*921G>A (n.*921G>A)
c.11428-1602G>A (n.11428-1602G>A)
c.5044G>A (p.Val1682Met)
c.11497G>A (p.Val3833Met)
c.5143G>A (p.Val1715Met)
c.11728G>A (p.Val3910Met)
c.11614G>A (p.Val3872Met)
c.5278G>A (p.Val1760Met)
c.5263G>A (p.Val1755Met)
c.11764G>A (p.Val3922Met)
c.5251G>A (p.Val1751Met)
c.11485G>A (p.Val3829Met)
c.5292+3357G>A (n.5292+3357G>A)
c.5203G>A (p.Val1735Met)
c.5494G>A (p.Val1832Met)
c.5329G>A (p.Val1777Met)
c.2992G>A (p.Val998Met)
c.11584G>A (p.Val3862Met)
c.5473G>A (p.Val1825Met)
c.5359G>A (p.Val1787Met)
c.11620G>A (p.Val3874Met)
c.5230G>A (p.Val1744Met)
c.11422G>A (p.Val3808Met)
c.5302G>A (p.Val1768Met)
c.4846G>A (p.Val1616Met)
c.2977G>A (p.Val993Met)
c.11398G>A (p.Val3800Met)
c.11448+3357G>A (n.11448+3357G>A)
c.2956G>A (p.Val986Met)
c.11629G>A (p.Val3877Met)
c.5287G>A (p.Val1763Met)
c.4936G>A (p.Val1646Met)
c.11458G>A (p.Val3820Met)
c.5428G>A (p.Val1810Met)
c.2713G>A (p.Val905Met)
c.5401G>A (p.Val1801Met)
c.1477G>A (p.Val493Met)
c.2525G>A
c.*3044G>A (n.*3044G>A)
c.11809G>A (p.Val3937Met)
c.5425G>A (p.Val1809Met)
c.11863G>A (p.Val3955Met)
c.11827G>A (p.Val3943Met)
c.5575G>A (p.Val1859Met)
c.5515G>A (p.Val1839Met)
c.5539G>A (p.Val1847Met)
c.11803G>A (p.Val3935Met)
c.11848G>A (p.Val3950Met)
c.5440G>A (p.Val1814Met)
c.5407G>A (p.Val1803Met)
c.5563G>A (p.Val1855Met)
c.5518G>A (p.Val1840Met)
c.5326G>A (p.Val1776Met)
c.5506G>A (p.Val1836Met)
c.5491G>A (p.Val1831Met)
c.5470G>A (p.Val1824Met)
c.5455G>A (p.Val1819Met)
c.5398G>A (p.Val1800Met)
c.5377G>A (p.Val1793Met)
c.5362G>A (p.Val1788Met)
c.5215G>A (p.Val1739Met)
c.5299G>A (p.Val1767Met)
c.5128G>A (p.Val1710Met)
c.11893G>A (p.Val3965Met)
c.11779G>A (p.Val3927Met)
c.11776G>A (p.Val3926Met)
c.11749G>A (p.Val3917Met)
c.11713G>A (p.Val3905Met)
c.11590G>A (p.Val3864Met)
c.11812G>A (p.Val3938Met)
c.11449G>A (p.Val3817Met)
c.5566G>A (p.Val1856Met)
c.5254G>A (p.Val1752Met)
c.5413G>A (p.Val1805Met)
c.5209G>A (p.Val1737Met)
c.5236G>A (p.Val1746Met)
c.5412+3357G>A (n.5412+3357G>A)
c.5194G>A (p.Val1732Met)
c.4945G>A (p.Val1649Met)
c.5272G>A (p.Val1758Met)
c.8083G>A (p.Val2695Met)
c.1921G>A (p.Val641Met)
c.5293G>A (p.Val1765Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched