Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113373306C>A | CA440840058 | ANK2 | c.11950C>A (p.Arg3984=) c.5542C>A (p.Arg1848=) c.2037+3501C>A (n.2037+3501C>A) c.2641C>A (p.Arg881=) n.3098C>A n.2306C>A n.6334C>A n.1879C>A n.2519C>A n.3735+3501C>A n.1822C>A n.2215C>A n.8561C>A n.3187C>A n.3472+133C>A n.4455C>A n.3698C>A n.5104C>A c.11716C>A (p.Arg3906=) c.11554C>A (p.Arg3852=) c.2848C>A (p.Arg950=) c.1264C>A (p.Arg422=) c.5275C>A (p.Arg1759=) c.5455C>A (p.Arg1819=) c.5277+133C>A (n.5277+133C>A) c.5590C>A (p.Arg1864=) c.5491C>A (p.Arg1831=) c.11590C>A (p.Arg3864=) c.5398C>A (p.Arg1800=) c.5200C>A (p.Arg1734=) c.*954C>A (n.*954C>A) c.11428-1458C>A (n.11428-1458C>A) c.5055+133C>A (n.5055+133C>A) c.11530C>A (p.Arg3844=) c.5176C>A (p.Arg1726=) c.11761C>A (p.Arg3921=) c.5299C>A (p.Arg1767=) c.11647C>A (p.Arg3883=) c.5311C>A (p.Arg1771=) c.5296C>A (p.Arg1766=) c.11797C>A (p.Arg3933=) c.5262+133C>A (n.5262+133C>A) c.11518C>A (p.Arg3840=) c.5292+3501C>A (n.5292+3501C>A) c.5236C>A (p.Arg1746=) c.5527C>A (p.Arg1843=) c.5362C>A (p.Arg1788=) c.3003+133C>A (n.3003+133C>A) c.11617C>A (p.Arg3873=) c.5469+133C>A (n.5469+133C>A) c.5253+133C>A (n.5253+133C>A) c.5506C>A (p.Arg1836=) c.5392C>A (p.Arg1798=) c.11653C>A (p.Arg3885=) c.5263C>A (p.Arg1755=) c.11532+133C>A (n.11532+133C>A) c.11455C>A (p.Arg3819=) c.5335C>A (p.Arg1779=) c.4879C>A (p.Arg1627=) c.3010C>A (p.Arg1004=) c.11431C>A (p.Arg3811=) c.3025C>A (p.Arg1009=) c.11448+3501C>A (n.11448+3501C>A) c.2989C>A (p.Arg997=) c.11662C>A (p.Arg3888=) c.5298+133C>A (n.5298+133C>A) c.4969C>A (p.Arg1657=) c.11625+133C>A (n.11625+133C>A) c.11491C>A (p.Arg3831=) c.5461C>A (p.Arg1821=) c.2746C>A (p.Arg916=) c.5434C>A (p.Arg1812=) c.1510C>A (p.Arg504=) c.2558C>A c.*3077C>A (n.*3077C>A) c.11842C>A (p.Arg3948=) c.5458C>A (p.Arg1820=) c.11896C>A (p.Arg3966=) c.11860C>A (p.Arg3954=) c.5608C>A (p.Arg1870=) c.5548C>A (p.Arg1850=) c.5572C>A (p.Arg1858=) c.11836C>A (p.Arg3946=) c.11881C>A (p.Arg3961=) c.5473C>A (p.Arg1825=) c.5440C>A (p.Arg1814=) c.5596C>A (p.Arg1866=) c.5551C>A (p.Arg1851=) c.5359C>A (p.Arg1787=) c.5539C>A (p.Arg1847=) c.5524C>A (p.Arg1842=) c.5503C>A (p.Arg1835=) c.5488C>A (p.Arg1830=) c.5431C>A (p.Arg1811=) c.5410C>A (p.Arg1804=) c.5395C>A (p.Arg1799=) c.5320C>A (p.Arg1774=) c.5436+133C>A (n.5436+133C>A) c.5248C>A (p.Arg1750=) c.5310+133C>A (n.5310+133C>A) c.5161C>A (p.Arg1721=) c.11926C>A (p.Arg3976=) c.11812C>A (p.Arg3938=) c.11809C>A (p.Arg3937=) c.11782C>A (p.Arg3928=) c.11746C>A (p.Arg3916=) c.11623C>A (p.Arg3875=) c.11845C>A (p.Arg3949=) c.11482C>A (p.Arg3828=) c.5599C>A (p.Arg1867=) c.5287C>A (p.Arg1763=) c.5446C>A (p.Arg1816=) c.5242C>A (p.Arg1748=) c.5269C>A (p.Arg1757=) c.5412+3501C>A (n.5412+3501C>A) c.5227C>A (p.Arg1743=) c.5077C>A (p.Arg1693=) c.4978C>A (p.Arg1660=) c.5305C>A (p.Arg1769=) c.8116C>A (p.Arg2706=) c.1954C>A (p.Arg652=) c.5326C>A (p.Arg1776=) | dbSNP |
4 | g.113373306C>G | CA357943557 | ANK2 | c.11950C>G (p.Arg3984Gly) c.5542C>G (p.Arg1848Gly) c.2037+3501C>G (n.2037+3501C>G) c.2641C>G (p.Arg881Gly) n.3098C>G n.2306C>G n.6334C>G n.1879C>G n.2519C>G n.3735+3501C>G n.1822C>G n.2215C>G n.8561C>G n.3187C>G n.3472+133C>G n.4455C>G n.3698C>G n.5104C>G c.11716C>G (p.Arg3906Gly) c.11554C>G (p.Arg3852Gly) c.2848C>G (p.Arg950Gly) c.1264C>G (p.Arg422Gly) c.5275C>G (p.Arg1759Gly) c.5455C>G (p.Arg1819Gly) c.5277+133C>G (n.5277+133C>G) c.5590C>G (p.Arg1864Gly) c.5491C>G (p.Arg1831Gly) c.11590C>G (p.Arg3864Gly) c.5398C>G (p.Arg1800Gly) c.5200C>G (p.Arg1734Gly) c.*954C>G (n.*954C>G) c.11428-1458C>G (n.11428-1458C>G) c.5055+133C>G (n.5055+133C>G) c.11530C>G (p.Arg3844Gly) c.5176C>G (p.Arg1726Gly) c.11761C>G (p.Arg3921Gly) c.5299C>G (p.Arg1767Gly) c.11647C>G (p.Arg3883Gly) c.5311C>G (p.Arg1771Gly) c.5296C>G (p.Arg1766Gly) c.11797C>G (p.Arg3933Gly) c.5262+133C>G (n.5262+133C>G) c.11518C>G (p.Arg3840Gly) c.5292+3501C>G (n.5292+3501C>G) c.5236C>G (p.Arg1746Gly) c.5527C>G (p.Arg1843Gly) c.5362C>G (p.Arg1788Gly) c.3003+133C>G (n.3003+133C>G) c.11617C>G (p.Arg3873Gly) c.5469+133C>G (n.5469+133C>G) c.5253+133C>G (n.5253+133C>G) c.5506C>G (p.Arg1836Gly) c.5392C>G (p.Arg1798Gly) c.11653C>G (p.Arg3885Gly) c.5263C>G (p.Arg1755Gly) c.11532+133C>G (n.11532+133C>G) c.11455C>G (p.Arg3819Gly) c.5335C>G (p.Arg1779Gly) c.4879C>G (p.Arg1627Gly) c.3010C>G (p.Arg1004Gly) c.11431C>G (p.Arg3811Gly) c.3025C>G (p.Arg1009Gly) c.11448+3501C>G (n.11448+3501C>G) c.2989C>G (p.Arg997Gly) c.11662C>G (p.Arg3888Gly) c.5298+133C>G (n.5298+133C>G) c.4969C>G (p.Arg1657Gly) c.11625+133C>G (n.11625+133C>G) c.11491C>G (p.Arg3831Gly) c.5461C>G (p.Arg1821Gly) c.2746C>G (p.Arg916Gly) c.5434C>G (p.Arg1812Gly) c.1510C>G (p.Arg504Gly) c.2558C>G c.*3077C>G (n.*3077C>G) c.11842C>G (p.Arg3948Gly) c.5458C>G (p.Arg1820Gly) c.11896C>G (p.Arg3966Gly) c.11860C>G (p.Arg3954Gly) c.5608C>G (p.Arg1870Gly) c.5548C>G (p.Arg1850Gly) c.5572C>G (p.Arg1858Gly) c.11836C>G (p.Arg3946Gly) c.11881C>G (p.Arg3961Gly) c.5473C>G (p.Arg1825Gly) c.5440C>G (p.Arg1814Gly) c.5596C>G (p.Arg1866Gly) c.5551C>G (p.Arg1851Gly) c.5359C>G (p.Arg1787Gly) c.5539C>G (p.Arg1847Gly) c.5524C>G (p.Arg1842Gly) c.5503C>G (p.Arg1835Gly) c.5488C>G (p.Arg1830Gly) c.5431C>G (p.Arg1811Gly) c.5410C>G (p.Arg1804Gly) c.5395C>G (p.Arg1799Gly) c.5320C>G (p.Arg1774Gly) c.5436+133C>G (n.5436+133C>G) c.5248C>G (p.Arg1750Gly) c.5310+133C>G (n.5310+133C>G) c.5161C>G (p.Arg1721Gly) c.11926C>G (p.Arg3976Gly) c.11812C>G (p.Arg3938Gly) c.11809C>G (p.Arg3937Gly) c.11782C>G (p.Arg3928Gly) c.11746C>G (p.Arg3916Gly) c.11623C>G (p.Arg3875Gly) c.11845C>G (p.Arg3949Gly) c.11482C>G (p.Arg3828Gly) c.5599C>G (p.Arg1867Gly) c.5287C>G (p.Arg1763Gly) c.5446C>G (p.Arg1816Gly) c.5242C>G (p.Arg1748Gly) c.5269C>G (p.Arg1757Gly) c.5412+3501C>G (n.5412+3501C>G) c.5227C>G (p.Arg1743Gly) c.5077C>G (p.Arg1693Gly) c.4978C>G (p.Arg1660Gly) c.5305C>G (p.Arg1769Gly) c.8116C>G (p.Arg2706Gly) c.1954C>G (p.Arg652Gly) c.5326C>G (p.Arg1776Gly) | dbSNP |
4 | g.113373306C>T | CA127768 | ANK2 | c.11950C>T (p.Arg3984Trp) c.5542C>T (p.Arg1848Trp) c.2037+3501C>T (n.2037+3501C>T) c.2641C>T (p.Arg881Trp) n.3098C>T n.2306C>T n.6334C>T n.1879C>T n.2519C>T n.3735+3501C>T n.1822C>T n.2215C>T n.8561C>T n.3187C>T n.3472+133C>T n.4455C>T n.3698C>T n.5104C>T c.11716C>T (p.Arg3906Trp) c.11554C>T (p.Arg3852Trp) c.2848C>T (p.Arg950Trp) c.1264C>T (p.Arg422Trp) c.5275C>T (p.Arg1759Trp) c.5455C>T (p.Arg1819Trp) c.5277+133C>T (n.5277+133C>T) c.5590C>T (p.Arg1864Trp) c.5491C>T (p.Arg1831Trp) c.11590C>T (p.Arg3864Trp) c.5398C>T (p.Arg1800Trp) c.5200C>T (p.Arg1734Trp) c.*954C>T (n.*954C>T) c.11428-1458C>T (n.11428-1458C>T) c.5055+133C>T (n.5055+133C>T) c.11530C>T (p.Arg3844Trp) c.5176C>T (p.Arg1726Trp) c.11761C>T (p.Arg3921Trp) c.5299C>T (p.Arg1767Trp) c.11647C>T (p.Arg3883Trp) c.5311C>T (p.Arg1771Trp) c.5296C>T (p.Arg1766Trp) c.11797C>T (p.Arg3933Trp) c.5262+133C>T (n.5262+133C>T) c.11518C>T (p.Arg3840Trp) c.5292+3501C>T (n.5292+3501C>T) c.5236C>T (p.Arg1746Trp) c.5527C>T (p.Arg1843Trp) c.5362C>T (p.Arg1788Trp) c.3003+133C>T (n.3003+133C>T) c.11617C>T (p.Arg3873Trp) c.5469+133C>T (n.5469+133C>T) c.5253+133C>T (n.5253+133C>T) c.5506C>T (p.Arg1836Trp) c.5392C>T (p.Arg1798Trp) c.11653C>T (p.Arg3885Trp) c.5263C>T (p.Arg1755Trp) c.11532+133C>T (n.11532+133C>T) c.11455C>T (p.Arg3819Trp) c.5335C>T (p.Arg1779Trp) c.4879C>T (p.Arg1627Trp) c.3010C>T (p.Arg1004Trp) c.11431C>T (p.Arg3811Trp) c.3025C>T (p.Arg1009Trp) c.11448+3501C>T (n.11448+3501C>T) c.2989C>T (p.Arg997Trp) c.11662C>T (p.Arg3888Trp) c.5298+133C>T (n.5298+133C>T) c.4969C>T (p.Arg1657Trp) c.11625+133C>T (n.11625+133C>T) c.11491C>T (p.Arg3831Trp) c.5461C>T (p.Arg1821Trp) c.2746C>T (p.Arg916Trp) c.5434C>T (p.Arg1812Trp) c.1510C>T (p.Arg504Trp) c.2558C>T c.*3077C>T (n.*3077C>T) c.11842C>T (p.Arg3948Trp) c.5458C>T (p.Arg1820Trp) c.11896C>T (p.Arg3966Trp) c.11860C>T (p.Arg3954Trp) c.5608C>T (p.Arg1870Trp) c.5548C>T (p.Arg1850Trp) c.5572C>T (p.Arg1858Trp) c.11836C>T (p.Arg3946Trp) c.11881C>T (p.Arg3961Trp) c.5473C>T (p.Arg1825Trp) c.5440C>T (p.Arg1814Trp) c.5596C>T (p.Arg1866Trp) c.5551C>T (p.Arg1851Trp) c.5359C>T (p.Arg1787Trp) c.5539C>T (p.Arg1847Trp) c.5524C>T (p.Arg1842Trp) c.5503C>T (p.Arg1835Trp) c.5488C>T (p.Arg1830Trp) c.5431C>T (p.Arg1811Trp) c.5410C>T (p.Arg1804Trp) c.5395C>T (p.Arg1799Trp) c.5320C>T (p.Arg1774Trp) c.5436+133C>T (n.5436+133C>T) c.5248C>T (p.Arg1750Trp) c.5310+133C>T (n.5310+133C>T) c.5161C>T (p.Arg1721Trp) c.11926C>T (p.Arg3976Trp) c.11812C>T (p.Arg3938Trp) c.11809C>T (p.Arg3937Trp) c.11782C>T (p.Arg3928Trp) c.11746C>T (p.Arg3916Trp) c.11623C>T (p.Arg3875Trp) c.11845C>T (p.Arg3949Trp) c.11482C>T (p.Arg3828Trp) c.5599C>T (p.Arg1867Trp) c.5287C>T (p.Arg1763Trp) c.5446C>T (p.Arg1816Trp) c.5242C>T (p.Arg1748Trp) c.5269C>T (p.Arg1757Trp) c.5412+3501C>T (n.5412+3501C>T) c.5227C>T (p.Arg1743Trp) c.5077C>T (p.Arg1693Trp) c.4978C>T (p.Arg1660Trp) c.5305C>T (p.Arg1769Trp) c.8116C>T (p.Arg2706Trp) c.1954C>T (p.Arg652Trp) c.5326C>T (p.Arg1776Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |