Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113373306C>ACA440840058ANK2c.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
4g.113373306C>GCA357943557ANK2c.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
4g.113373306C>TCA127768ANK2c.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

Number of alleles fetched