Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113373162G>C | CA199816 | ANK2 | c.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 |
4 | g.113373162G>A | CA145035 | ANK2 | c.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 |