Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.162435244G>ACA1935615KCNH7c.1908C>T (p.Asn636=)
c.1887C>T (p.Asn629=)
c.1608C>T (p.Asn536=)
c.1581C>T (p.Asn527=)
c.1932C>T (p.Asn644=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435244G>CCA349220740KCNH7c.1908C>G (p.Asn636Lys)
c.1887C>G (p.Asn629Lys)
c.1608C>G (p.Asn536Lys)
c.1581C>G (p.Asn527Lys)
c.1932C>G (p.Asn644Lys)
2g.162435244G=CA1303221213KCNH7c.1908C= (p.Asn636=)
c.1887C= (p.Asn629=)
c.1608C= (p.Asn536=)
c.1581C= (p.Asn527=)
c.1932C= (p.Asn644=)
2g.162435244G>TCA349220741KCNH7c.1908C>A (p.Asn636Lys)
c.1887C>A (p.Asn629Lys)
c.1608C>A (p.Asn536Lys)
c.1581C>A (p.Asn527Lys)
c.1932C>A (p.Asn644Lys)
2g.162435245T>ACA349220744KCNH7c.1907A>T (p.Asn636Ile)
c.1886A>T (p.Asn629Ile)
c.1607A>T (p.Asn536Ile)
c.1580A>T (p.Asn527Ile)
c.1931A>T (p.Asn644Ile)
2g.162435245T>CCA349220743KCNH7c.1907A>G (p.Asn636Ser)
c.1886A>G (p.Asn629Ser)
c.1607A>G (p.Asn536Ser)
c.1580A>G (p.Asn527Ser)
c.1931A>G (p.Asn644Ser)
2g.162435245T>GCA349220742KCNH7c.1907A>C (p.Asn636Thr)
c.1886A>C (p.Asn629Thr)
c.1607A>C (p.Asn536Thr)
c.1580A>C (p.Asn527Thr)
c.1931A>C (p.Asn644Thr)
2g.162435246T>ACA349220745KCNH7c.1906A>T (p.Asn636Tyr)
c.1885A>T (p.Asn629Tyr)
c.1606A>T (p.Asn536Tyr)
c.1579A>T (p.Asn527Tyr)
c.1930A>T (p.Asn644Tyr)
2g.162435246T>CCA349220746KCNH7c.1906A>G (p.Asn636Asp)
c.1885A>G (p.Asn629Asp)
c.1606A>G (p.Asn536Asp)
c.1579A>G (p.Asn527Asp)
c.1930A>G (p.Asn644Asp)
2g.162435246T>GCA349220747KCNH7c.1906A>C (p.Asn636His)
c.1885A>C (p.Asn629His)
c.1606A>C (p.Asn536His)
c.1579A>C (p.Asn527His)
c.1930A>C (p.Asn644His)
2g.162435247A=CA1303221216KCNH7c.1905T= (p.Pro635=)
c.1884T= (p.Pro628=)
c.1605T= (p.Pro535=)
c.1578T= (p.Pro526=)
c.1929T= (p.Pro643=)
2g.162435247A>CCA429731591KCNH7c.1905T>G (p.Pro635=)
c.1884T>G (p.Pro628=)
c.1605T>G (p.Pro535=)
c.1578T>G (p.Pro526=)
c.1929T>G (p.Pro643=)
dbSNP gnomAD v3 gnomAD v4
2g.162435247A>GCA429731593KCNH7c.1905T>C (p.Pro635=)
c.1884T>C (p.Pro628=)
c.1605T>C (p.Pro535=)
c.1578T>C (p.Pro526=)
c.1929T>C (p.Pro643=)
2g.162435247A>TCA429731592KCNH7c.1905T>A (p.Pro635=)
c.1884T>A (p.Pro628=)
c.1605T>A (p.Pro535=)
c.1578T>A (p.Pro526=)
c.1929T>A (p.Pro643=)
2g.162435248G>ACA349220748KCNH7c.1904C>T (p.Pro635Leu)
c.1883C>T (p.Pro628Leu)
c.1604C>T (p.Pro535Leu)
c.1577C>T (p.Pro526Leu)
c.1928C>T (p.Pro643Leu)
2g.162435248G>CCA349220749KCNH7c.1904C>G (p.Pro635Arg)
c.1883C>G (p.Pro628Arg)
c.1604C>G (p.Pro535Arg)
c.1577C>G (p.Pro526Arg)
c.1928C>G (p.Pro643Arg)
2g.162435248G>TCA349220750KCNH7c.1904C>A (p.Pro635His)
c.1883C>A (p.Pro628His)
c.1604C>A (p.Pro535His)
c.1577C>A (p.Pro526His)
c.1928C>A (p.Pro643His)
2g.162435249G>ACA349220751KCNH7c.1903C>T (p.Pro635Ser)
c.1882C>T (p.Pro628Ser)
c.1603C>T (p.Pro535Ser)
c.1576C>T (p.Pro526Ser)
c.1927C>T (p.Pro643Ser)
2g.162435249G>CCA349220753KCNH7c.1903C>G (p.Pro635Ala)
c.1882C>G (p.Pro628Ala)
c.1603C>G (p.Pro535Ala)
c.1576C>G (p.Pro526Ala)
c.1927C>G (p.Pro643Ala)
2g.162435249G>TCA349220752KCNH7c.1903C>A (p.Pro635Thr)
c.1882C>A (p.Pro628Thr)
c.1603C>A (p.Pro535Thr)
c.1576C>A (p.Pro526Thr)
c.1927C>A (p.Pro643Thr)
2g.162435250A>CCA429731595KCNH7c.1902T>G (p.Ser634=)
c.1881T>G (p.Ser627=)
c.1602T>G (p.Ser534=)
c.1575T>G (p.Ser525=)
c.1926T>G (p.Ser642=)
2g.162435250A>GCA429731596KCNH7c.1902T>C (p.Ser634=)
c.1881T>C (p.Ser627=)
c.1602T>C (p.Ser534=)
c.1575T>C (p.Ser525=)
c.1926T>C (p.Ser642=)
2g.162435250A>TCA429731597KCNH7c.1902T>A (p.Ser634=)
c.1881T>A (p.Ser627=)
c.1602T>A (p.Ser534=)
c.1575T>A (p.Ser525=)
c.1926T>A (p.Ser642=)
2g.162435251G>ACA59809324KCNH7c.1901C>T (p.Ser634Phe)
c.1880C>T (p.Ser627Phe)
c.1601C>T (p.Ser534Phe)
c.1574C>T (p.Ser525Phe)
c.1925C>T (p.Ser642Phe)
dbSNP
2g.162435251G>CCA349220754KCNH7c.1901C>G (p.Ser634Cys)
c.1880C>G (p.Ser627Cys)
c.1601C>G (p.Ser534Cys)
c.1574C>G (p.Ser525Cys)
c.1925C>G (p.Ser642Cys)
2g.162435251G=CA1303221221KCNH7c.1901C= (p.Ser634=)
c.1880C= (p.Ser627=)
c.1601C= (p.Ser534=)
c.1574C= (p.Ser525=)
c.1925C= (p.Ser642=)
2g.162435251G>TCA349220755KCNH7c.1901C>A (p.Ser634Tyr)
c.1880C>A (p.Ser627Tyr)
c.1601C>A (p.Ser534Tyr)
c.1574C>A (p.Ser525Tyr)
c.1925C>A (p.Ser642Tyr)
2g.162435252A>CCA349220756KCNH7c.1900T>G (p.Ser634Ala)
c.1879T>G (p.Ser627Ala)
c.1600T>G (p.Ser534Ala)
c.1573T>G (p.Ser525Ala)
c.1924T>G (p.Ser642Ala)
2g.162435252A>GCA349220757KCNH7c.1900T>C (p.Ser634Pro)
c.1879T>C (p.Ser627Pro)
c.1600T>C (p.Ser534Pro)
c.1573T>C (p.Ser525Pro)
c.1924T>C (p.Ser642Pro)
2g.162435252A>TCA349220758KCNH7c.1900T>A (p.Ser634Thr)
c.1879T>A (p.Ser627Thr)
c.1600T>A (p.Ser534Thr)
c.1573T>A (p.Ser525Thr)
c.1924T>A (p.Ser642Thr)
2g.162435253C>ACA429731604KCNH7c.1899G>T (p.Val633=)
c.1878G>T (p.Val626=)
c.1599G>T (p.Val533=)
c.1572G>T (p.Val524=)
c.1923G>T (p.Val641=)
2g.162435253C>GCA429731606KCNH7c.1899G>C (p.Val633=)
c.1878G>C (p.Val626=)
c.1599G>C (p.Val533=)
c.1572G>C (p.Val524=)
c.1923G>C (p.Val641=)
2g.162435253C>TCA429731607KCNH7c.1899G>A (p.Val633=)
c.1878G>A (p.Val626=)
c.1599G>A (p.Val533=)
c.1572G>A (p.Val524=)
c.1923G>A (p.Val641=)
2g.162435254A>CCA349220759KCNH7c.1898T>G (p.Val633Gly)
c.1877T>G (p.Val626Gly)
c.1598T>G (p.Val533Gly)
c.1571T>G (p.Val524Gly)
c.1922T>G (p.Val641Gly)
2g.162435254A>GCA349220760KCNH7c.1898T>C (p.Val633Ala)
c.1877T>C (p.Val626Ala)
c.1598T>C (p.Val533Ala)
c.1571T>C (p.Val524Ala)
c.1922T>C (p.Val641Ala)
2g.162435254A>TCA349220761KCNH7c.1898T>A (p.Val633Glu)
c.1877T>A (p.Val626Glu)
c.1598T>A (p.Val533Glu)
c.1571T>A (p.Val524Glu)
c.1922T>A (p.Val641Glu)
2g.162435255C>ACA349220762KCNH7c.1897G>T (p.Val633Leu)
c.1876G>T (p.Val626Leu)
c.1597G>T (p.Val533Leu)
c.1570G>T (p.Val524Leu)
c.1921G>T (p.Val641Leu)
2g.162435255C>GCA349220763KCNH7c.1897G>C (p.Val633Leu)
c.1876G>C (p.Val626Leu)
c.1597G>C (p.Val533Leu)
c.1570G>C (p.Val524Leu)
c.1921G>C (p.Val641Leu)
2g.162435255C>TCA349220764KCNH7c.1897G>A (p.Val633Met)
c.1876G>A (p.Val626Met)
c.1597G>A (p.Val533Met)
c.1570G>A (p.Val524Met)
c.1921G>A (p.Val641Met)
2g.162435255_162435256insCAAAAGGTCTTTTTGAACCTTAGGGACA2511075709KCNH7c.1896_1897insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val633SerfsTer26)
c.1875_1876insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val626SerfsTer26)
c.1596_1597insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val533SerfsTer26)
c.1569_1570insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val524SerfsTer26)
c.1920_1921insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val641SerfsTer26)
2g.162435256A>CCA349220765KCNH7c.1896T>G (p.Asn632Lys)
c.1875T>G (p.Asn625Lys)
c.1596T>G (p.Asn532Lys)
c.1569T>G (p.Asn523Lys)
c.1920T>G (p.Asn640Lys)
2g.162435256A>GCA429731614KCNH7c.1896T>C (p.Asn632=)
c.1875T>C (p.Asn625=)
c.1596T>C (p.Asn532=)
c.1569T>C (p.Asn523=)
c.1920T>C (p.Asn640=)
2g.162435256A>TCA349220766KCNH7c.1896T>A (p.Asn632Lys)
c.1875T>A (p.Asn625Lys)
c.1596T>A (p.Asn532Lys)
c.1569T>A (p.Asn523Lys)
c.1920T>A (p.Asn640Lys)
2g.162435257T>ACA349220767KCNH7c.1895A>T (p.Asn632Ile)
c.1874A>T (p.Asn625Ile)
c.1595A>T (p.Asn532Ile)
c.1568A>T (p.Asn523Ile)
c.1919A>T (p.Asn640Ile)
2g.162435257T>CCA349220769KCNH7c.1895A>G (p.Asn632Ser)
c.1874A>G (p.Asn625Ser)
c.1595A>G (p.Asn532Ser)
c.1568A>G (p.Asn523Ser)
c.1919A>G (p.Asn640Ser)
2g.162435257T>GCA349220768KCNH7c.1895A>C (p.Asn632Thr)
c.1874A>C (p.Asn625Thr)
c.1595A>C (p.Asn532Thr)
c.1568A>C (p.Asn523Thr)
c.1919A>C (p.Asn640Thr)
2g.162435258T>ACA349220770KCNH7c.1894A>T (p.Asn632Tyr)
c.1873A>T (p.Asn625Tyr)
c.1594A>T (p.Asn532Tyr)
c.1567A>T (p.Asn523Tyr)
c.1918A>T (p.Asn640Tyr)
2g.162435258T>CCA349220771KCNH7c.1894A>G (p.Asn632Asp)
c.1873A>G (p.Asn625Asp)
c.1594A>G (p.Asn532Asp)
c.1567A>G (p.Asn523Asp)
c.1918A>G (p.Asn640Asp)
2g.162435258T>GCA349220772KCNH7c.1894A>C (p.Asn632His)
c.1873A>C (p.Asn625His)
c.1594A>C (p.Asn532His)
c.1567A>C (p.Asn523His)
c.1918A>C (p.Asn640His)
2g.162435259C>ACA429731617KCNH7c.1893G>T (p.Gly631=)
c.1872G>T (p.Gly624=)
c.1593G>T (p.Gly531=)
c.1566G>T (p.Gly522=)
c.1917G>T (p.Gly639=)
2g.162435259C>GCA429731618KCNH7c.1893G>C (p.Gly631=)
c.1872G>C (p.Gly624=)
c.1593G>C (p.Gly531=)
c.1566G>C (p.Gly522=)
c.1917G>C (p.Gly639=)
2g.162435259C>TCA429731619KCNH7c.1893G>A (p.Gly631=)
c.1872G>A (p.Gly624=)
c.1593G>A (p.Gly531=)
c.1566G>A (p.Gly522=)
c.1917G>A (p.Gly639=)
gnomAD v4 COSMIC COSMIC
2g.162435260C>ACA349220773KCNH7c.1892G>T (p.Gly631Val)
c.1871G>T (p.Gly624Val)
c.1592G>T (p.Gly531Val)
c.1565G>T (p.Gly522Val)
c.1916G>T (p.Gly639Val)
2g.162435260C>GCA349220774KCNH7c.1892G>C (p.Gly631Ala)
c.1871G>C (p.Gly624Ala)
c.1592G>C (p.Gly531Ala)
c.1565G>C (p.Gly522Ala)
c.1916G>C (p.Gly639Ala)
2g.162435260C>TCA349220775KCNH7c.1892G>A (p.Gly631Glu)
c.1871G>A (p.Gly624Glu)
c.1592G>A (p.Gly531Glu)
c.1565G>A (p.Gly522Glu)
c.1916G>A (p.Gly639Glu)
COSMIC COSMIC
2g.162435261C>ACA349220776KCNH7c.1891G>T (p.Gly631Trp)
c.1870G>T (p.Gly624Trp)
c.1591G>T (p.Gly531Trp)
c.1564G>T (p.Gly522Trp)
c.1915G>T (p.Gly639Trp)
2g.162435261C>GCA349220777KCNH7c.1891G>C (p.Gly631Arg)
c.1870G>C (p.Gly624Arg)
c.1591G>C (p.Gly531Arg)
c.1564G>C (p.Gly522Arg)
c.1915G>C (p.Gly639Arg)
2g.162435261C>TCA349220778KCNH7c.1891G>A (p.Gly631Arg)
c.1870G>A (p.Gly624Arg)
c.1591G>A (p.Gly531Arg)
c.1564G>A (p.Gly522Arg)
c.1915G>A (p.Gly639Arg)
2g.162435262G>ACA429731622KCNH7c.1890C>T (p.Phe630=)
c.1869C>T (p.Phe623=)
c.1590C>T (p.Phe530=)
c.1563C>T (p.Phe521=)
c.1914C>T (p.Phe638=)
gnomAD v4
2g.162435262G>CCA349220779KCNH7c.1890C>G (p.Phe630Leu)
c.1869C>G (p.Phe623Leu)
c.1590C>G (p.Phe530Leu)
c.1563C>G (p.Phe521Leu)
c.1914C>G (p.Phe638Leu)
2g.162435262G>TCA349220780KCNH7c.1890C>A (p.Phe630Leu)
c.1869C>A (p.Phe623Leu)
c.1590C>A (p.Phe530Leu)
c.1563C>A (p.Phe521Leu)
c.1914C>A (p.Phe638Leu)
2g.162435263A>CCA349220783KCNH7c.1889T>G (p.Phe630Cys)
c.1868T>G (p.Phe623Cys)
c.1589T>G (p.Phe530Cys)
c.1562T>G (p.Phe521Cys)
c.1913T>G (p.Phe638Cys)
2g.162435263A>GCA349220782KCNH7c.1889T>C (p.Phe630Ser)
c.1868T>C (p.Phe623Ser)
c.1589T>C (p.Phe530Ser)
c.1562T>C (p.Phe521Ser)
c.1913T>C (p.Phe638Ser)
2g.162435263A>TCA349220781KCNH7c.1889T>A (p.Phe630Tyr)
c.1868T>A (p.Phe623Tyr)
c.1589T>A (p.Phe530Tyr)
c.1562T>A (p.Phe521Tyr)
c.1913T>A (p.Phe638Tyr)
2g.162435264A>CCA349220784KCNH7c.1888T>G (p.Phe630Val)
c.1867T>G (p.Phe623Val)
c.1588T>G (p.Phe530Val)
c.1561T>G (p.Phe521Val)
c.1912T>G (p.Phe638Val)
2g.162435264A>GCA349220785KCNH7c.1888T>C (p.Phe630Leu)
c.1867T>C (p.Phe623Leu)
c.1588T>C (p.Phe530Leu)
c.1561T>C (p.Phe521Leu)
c.1912T>C (p.Phe638Leu)
2g.162435264A>TCA349220786KCNH7c.1888T>A (p.Phe630Ile)
c.1867T>A (p.Phe623Ile)
c.1588T>A (p.Phe530Ile)
c.1561T>A (p.Phe521Ile)
c.1912T>A (p.Phe638Ile)
2g.162435265T>ACA429731626KCNH7c.1887A>T (p.Gly629=)
c.1866A>T (p.Gly622=)
c.1587A>T (p.Gly529=)
c.1560A>T (p.Gly520=)
c.1911A>T (p.Gly637=)
2g.162435265T>CCA429731627KCNH7c.1887A>G (p.Gly629=)
c.1866A>G (p.Gly622=)
c.1587A>G (p.Gly529=)
c.1560A>G (p.Gly520=)
c.1911A>G (p.Gly637=)
2g.162435265T>GCA429731628KCNH7c.1887A>C (p.Gly629=)
c.1866A>C (p.Gly622=)
c.1587A>C (p.Gly529=)
c.1560A>C (p.Gly520=)
c.1911A>C (p.Gly637=)
2g.162435266C>ACA349220787KCNH7c.1886G>T (p.Gly629Val)
c.1865G>T (p.Gly622Val)
c.1586G>T (p.Gly529Val)
c.1559G>T (p.Gly520Val)
c.1910G>T (p.Gly637Val)
gnomAD v4
2g.162435266C>GCA349220788KCNH7c.1886G>C (p.Gly629Ala)
c.1865G>C (p.Gly622Ala)
c.1586G>C (p.Gly529Ala)
c.1559G>C (p.Gly520Ala)
c.1910G>C (p.Gly637Ala)
2g.162435266C>TCA349220789KCNH7c.1886G>A (p.Gly629Glu)
c.1865G>A (p.Gly622Glu)
c.1586G>A (p.Gly529Glu)
c.1559G>A (p.Gly520Glu)
c.1910G>A (p.Gly637Glu)
COSMIC COSMIC
2g.162435267C>ACA349220790KCNH7c.1885G>T (p.Gly629Ter)
c.1864G>T (p.Gly622Ter)
c.1585G>T (p.Gly529Ter)
c.1558G>T (p.Gly520Ter)
c.1909G>T (p.Gly637Ter)
2g.162435267C>GCA349220791KCNH7c.1885G>C (p.Gly629Arg)
c.1864G>C (p.Gly622Arg)
c.1585G>C (p.Gly529Arg)
c.1558G>C (p.Gly520Arg)
c.1909G>C (p.Gly637Arg)
2g.162435267C>TCA349220792KCNH7c.1885G>A (p.Gly629Arg)
c.1864G>A (p.Gly622Arg)
c.1585G>A (p.Gly529Arg)
c.1558G>A (p.Gly520Arg)
c.1909G>A (p.Gly637Arg)
2g.162435268T>ACA429731630KCNH7c.1884A>T (p.Val628=)
c.1863A>T (p.Val621=)
c.1584A>T (p.Val528=)
c.1557A>T (p.Val519=)
c.1908A>T (p.Val636=)
2g.162435268T>CCA429731634KCNH7c.1884A>G (p.Val628=)
c.1863A>G (p.Val621=)
c.1584A>G (p.Val528=)
c.1557A>G (p.Val519=)
c.1908A>G (p.Val636=)
2g.162435268T>GCA429731632KCNH7c.1884A>C (p.Val628=)
c.1863A>C (p.Val621=)
c.1584A>C (p.Val528=)
c.1557A>C (p.Val519=)
c.1908A>C (p.Val636=)
2g.162435269A>CCA349220793KCNH7c.1883T>G (p.Val628Gly)
c.1862T>G (p.Val621Gly)
c.1583T>G (p.Val528Gly)
c.1556T>G (p.Val519Gly)
c.1907T>G (p.Val636Gly)
2g.162435269A>GCA349220794KCNH7c.1883T>C (p.Val628Ala)
c.1862T>C (p.Val621Ala)
c.1583T>C (p.Val528Ala)
c.1556T>C (p.Val519Ala)
c.1907T>C (p.Val636Ala)
2g.162435269A>TCA349220795KCNH7c.1883T>A (p.Val628Glu)
c.1862T>A (p.Val621Glu)
c.1583T>A (p.Val528Glu)
c.1556T>A (p.Val519Glu)
c.1907T>A (p.Val636Glu)
2g.162435270C>ACA349220798KCNH7c.1882G>T (p.Val628Leu)
c.1861G>T (p.Val621Leu)
c.1582G>T (p.Val528Leu)
c.1555G>T (p.Val519Leu)
c.1906G>T (p.Val636Leu)
2g.162435270C>GCA349220797KCNH7c.1882G>C (p.Val628Leu)
c.1861G>C (p.Val621Leu)
c.1582G>C (p.Val528Leu)
c.1555G>C (p.Val519Leu)
c.1906G>C (p.Val636Leu)
2g.162435270C>TCA349220796KCNH7c.1882G>A (p.Val628Ile)
c.1861G>A (p.Val621Ile)
c.1582G>A (p.Val528Ile)
c.1555G>A (p.Val519Ile)
c.1906G>A (p.Val636Ile)
2g.162435271A>CCA349220799KCNH7c.1881T>G (p.Ser627Arg)
c.1860T>G (p.Ser620Arg)
c.1581T>G (p.Ser527Arg)
c.1554T>G (p.Ser518Arg)
c.1905T>G (p.Ser635Arg)
2g.162435271A>GCA429731640KCNH7c.1881T>C (p.Ser627=)
c.1860T>C (p.Ser620=)
c.1581T>C (p.Ser527=)
c.1554T>C (p.Ser518=)
c.1905T>C (p.Ser635=)
gnomAD v4
2g.162435271A>TCA349220800KCNH7c.1881T>A (p.Ser627Arg)
c.1860T>A (p.Ser620Arg)
c.1581T>A (p.Ser527Arg)
c.1554T>A (p.Ser518Arg)
c.1905T>A (p.Ser635Arg)
2g.162435272C>ACA349220801KCNH7c.1880G>T (p.Ser627Ile)
c.1859G>T (p.Ser620Ile)
c.1580G>T (p.Ser527Ile)
c.1553G>T (p.Ser518Ile)
c.1904G>T (p.Ser635Ile)
2g.162435272C>GCA349220803KCNH7c.1880G>C (p.Ser627Thr)
c.1859G>C (p.Ser620Thr)
c.1580G>C (p.Ser527Thr)
c.1553G>C (p.Ser518Thr)
c.1904G>C (p.Ser635Thr)
2g.162435272C>TCA349220802KCNH7c.1880G>A (p.Ser627Asn)
c.1859G>A (p.Ser620Asn)
c.1580G>A (p.Ser527Asn)
c.1553G>A (p.Ser518Asn)
c.1904G>A (p.Ser635Asn)
2g.162435273T>ACA349220804KCNH7c.1879A>T (p.Ser627Cys)
c.1858A>T (p.Ser620Cys)
c.1579A>T (p.Ser527Cys)
c.1552A>T (p.Ser518Cys)
c.1903A>T (p.Ser635Cys)
2g.162435273T>CCA349220805KCNH7c.1879A>G (p.Ser627Gly)
c.1858A>G (p.Ser620Gly)
c.1579A>G (p.Ser527Gly)
c.1552A>G (p.Ser518Gly)
c.1903A>G (p.Ser635Gly)
2g.162435273T>GCA349220806KCNH7c.1879A>C (p.Ser627Arg)
c.1858A>C (p.Ser620Arg)
c.1579A>C (p.Ser527Arg)
c.1552A>C (p.Ser518Arg)
c.1903A>C (p.Ser635Arg)
2g.162435274G>ACA429731642KCNH7c.1878C>T (p.Thr626=)
c.1857C>T (p.Thr619=)
c.1578C>T (p.Thr526=)
c.1551C>T (p.Thr517=)
c.1902C>T (p.Thr634=)
2g.162435274G>CCA429731643KCNH7c.1878C>G (p.Thr626=)
c.1857C>G (p.Thr619=)
c.1578C>G (p.Thr526=)
c.1551C>G (p.Thr517=)
c.1902C>G (p.Thr634=)
2g.162435274G=CA1303221223KCNH7c.1878C= (p.Thr626=)
c.1857C= (p.Thr619=)
c.1578C= (p.Thr526=)
c.1551C= (p.Thr517=)
c.1902C= (p.Thr634=)
2g.162435274G>TCA429731645KCNH7c.1878C>A (p.Thr626=)
c.1857C>A (p.Thr619=)
c.1578C>A (p.Thr526=)
c.1551C>A (p.Thr517=)
c.1902C>A (p.Thr634=)
dbSNP gnomAD v2 gnomAD v4
2g.162435275G>ACA349220807KCNH7c.1877C>T (p.Thr626Ile)
c.1856C>T (p.Thr619Ile)
c.1577C>T (p.Thr526Ile)
c.1550C>T (p.Thr517Ile)
c.1901C>T (p.Thr634Ile)
2g.162435275G>CCA349220808KCNH7c.1877C>G (p.Thr626Ser)
c.1856C>G (p.Thr619Ser)
c.1577C>G (p.Thr526Ser)
c.1550C>G (p.Thr517Ser)
c.1901C>G (p.Thr634Ser)
2g.162435275G>TCA349220809KCNH7c.1877C>A (p.Thr626Asn)
c.1856C>A (p.Thr619Asn)
c.1577C>A (p.Thr526Asn)
c.1550C>A (p.Thr517Asn)
c.1901C>A (p.Thr634Asn)
2g.162435276T>ACA349220810KCNH7c.1876A>T (p.Thr626Ser)
c.1855A>T (p.Thr619Ser)
c.1576A>T (p.Thr526Ser)
c.1549A>T (p.Thr517Ser)
c.1900A>T (p.Thr634Ser)
2g.162435276T>CCA349220811KCNH7c.1876A>G (p.Thr626Ala)
c.1855A>G (p.Thr619Ala)
c.1576A>G (p.Thr526Ala)
c.1549A>G (p.Thr517Ala)
c.1900A>G (p.Thr634Ala)
2g.162435276T>GCA349220812KCNH7c.1876A>C (p.Thr626Pro)
c.1855A>C (p.Thr619Pro)
c.1576A>C (p.Thr526Pro)
c.1549A>C (p.Thr517Pro)
c.1900A>C (p.Thr634Pro)
2g.162435277T>ACA349220813KCNH7c.1875A>T (p.Leu625Phe)
c.1854A>T (p.Leu618Phe)
c.1575A>T (p.Leu525Phe)
c.1548A>T (p.Leu516Phe)
c.1899A>T (p.Leu633Phe)
2g.162435277T>CCA429731647KCNH7c.1875A>G (p.Leu625=)
c.1854A>G (p.Leu618=)
c.1575A>G (p.Leu525=)
c.1548A>G (p.Leu516=)
c.1899A>G (p.Leu633=)
2g.162435277T>GCA349220814KCNH7c.1875A>C (p.Leu625Phe)
c.1854A>C (p.Leu618Phe)
c.1575A>C (p.Leu525Phe)
c.1548A>C (p.Leu516Phe)
c.1899A>C (p.Leu633Phe)
2g.162435278A>CCA349220817KCNH7c.1874T>G (p.Leu625Ter)
c.1853T>G (p.Leu618Ter)
c.1574T>G (p.Leu525Ter)
c.1547T>G (p.Leu516Ter)
c.1898T>G (p.Leu633Ter)
2g.162435278A>GCA349220816KCNH7c.1874T>C (p.Leu625Ser)
c.1853T>C (p.Leu618Ser)
c.1574T>C (p.Leu525Ser)
c.1547T>C (p.Leu516Ser)
c.1898T>C (p.Leu633Ser)
2g.162435278A>TCA349220815KCNH7c.1874T>A (p.Leu625Ter)
c.1853T>A (p.Leu618Ter)
c.1574T>A (p.Leu525Ter)
c.1547T>A (p.Leu516Ter)
c.1898T>A (p.Leu633Ter)
2g.162435279A>CCA349220818KCNH7c.1873T>G (p.Leu625Val)
c.1852T>G (p.Leu618Val)
c.1573T>G (p.Leu525Val)
c.1546T>G (p.Leu516Val)
c.1897T>G (p.Leu633Val)
2g.162435279A>GCA429731651KCNH7c.1873T>C (p.Leu625=)
c.1852T>C (p.Leu618=)
c.1573T>C (p.Leu525=)
c.1546T>C (p.Leu516=)
c.1897T>C (p.Leu633=)
2g.162435279A>TCA349220819KCNH7c.1873T>A (p.Leu625Ile)
c.1852T>A (p.Leu618Ile)
c.1573T>A (p.Leu525Ile)
c.1546T>A (p.Leu516Ile)
c.1897T>A (p.Leu633Ile)
2g.162435280A>CCA349220820KCNH7c.1872T>G (p.Ser624Arg)
c.1851T>G (p.Ser617Arg)
c.1572T>G (p.Ser524Arg)
c.1545T>G (p.Ser515Arg)
c.1896T>G (p.Ser632Arg)
2g.162435280A>GCA429731652KCNH7c.1872T>C (p.Ser624=)
c.1851T>C (p.Ser617=)
c.1572T>C (p.Ser524=)
c.1545T>C (p.Ser515=)
c.1896T>C (p.Ser632=)
2g.162435280A>TCA349220821KCNH7c.1872T>A (p.Ser624Arg)
c.1851T>A (p.Ser617Arg)
c.1572T>A (p.Ser524Arg)
c.1545T>A (p.Ser515Arg)
c.1896T>A (p.Ser632Arg)
2g.162435281C>ACA349220822KCNH7c.1871G>T (p.Ser624Ile)
c.1850G>T (p.Ser617Ile)
c.1571G>T (p.Ser524Ile)
c.1544G>T (p.Ser515Ile)
c.1895G>T (p.Ser632Ile)
2g.162435281C>GCA349220823KCNH7c.1871G>C (p.Ser624Thr)
c.1850G>C (p.Ser617Thr)
c.1571G>C (p.Ser524Thr)
c.1544G>C (p.Ser515Thr)
c.1895G>C (p.Ser632Thr)
2g.162435281C>TCA349220824KCNH7c.1871G>A (p.Ser624Asn)
c.1850G>A (p.Ser617Asn)
c.1571G>A (p.Ser524Asn)
c.1544G>A (p.Ser515Asn)
c.1895G>A (p.Ser632Asn)
COSMIC COSMIC
2g.162435282T>ACA349220825KCNH7c.1870A>T (p.Ser624Cys)
c.1849A>T (p.Ser617Cys)
c.1570A>T (p.Ser524Cys)
c.1543A>T (p.Ser515Cys)
c.1894A>T (p.Ser632Cys)
2g.162435282T>CCA349220826KCNH7c.1870A>G (p.Ser624Gly)
c.1849A>G (p.Ser617Gly)
c.1570A>G (p.Ser524Gly)
c.1543A>G (p.Ser515Gly)
c.1894A>G (p.Ser632Gly)
2g.162435282T>GCA349220827KCNH7c.1870A>C (p.Ser624Arg)
c.1849A>C (p.Ser617Arg)
c.1570A>C (p.Ser524Arg)
c.1543A>C (p.Ser515Arg)
c.1894A>C (p.Ser632Arg)
2g.162435283G>ACA429731655KCNH7c.1869C>T (p.Ser623=)
c.1848C>T (p.Ser616=)
c.1569C>T (p.Ser523=)
c.1542C>T (p.Ser514=)
c.1893C>T (p.Ser631=)
2g.162435283G>CCA349220828KCNH7c.1869C>G (p.Ser623Arg)
c.1848C>G (p.Ser616Arg)
c.1569C>G (p.Ser523Arg)
c.1542C>G (p.Ser514Arg)
c.1893C>G (p.Ser631Arg)
2g.162435283G>TCA349220829KCNH7c.1869C>A (p.Ser623Arg)
c.1848C>A (p.Ser616Arg)
c.1569C>A (p.Ser523Arg)
c.1542C>A (p.Ser514Arg)
c.1893C>A (p.Ser631Arg)
2g.162435284C>ACA349220832KCNH7c.1868G>T (p.Ser623Ile)
c.1847G>T (p.Ser616Ile)
c.1568G>T (p.Ser523Ile)
c.1541G>T (p.Ser514Ile)
c.1892G>T (p.Ser631Ile)
2g.162435284C>GCA349220831KCNH7c.1868G>C (p.Ser623Thr)
c.1847G>C (p.Ser616Thr)
c.1568G>C (p.Ser523Thr)
c.1541G>C (p.Ser514Thr)
c.1892G>C (p.Ser631Thr)
2g.162435284C>TCA349220830KCNH7c.1868G>A (p.Ser623Asn)
c.1847G>A (p.Ser616Asn)
c.1568G>A (p.Ser523Asn)
c.1541G>A (p.Ser514Asn)
c.1892G>A (p.Ser631Asn)
2g.162435285T>ACA349220833KCNH7c.1867A>T (p.Ser623Cys)
c.1846A>T (p.Ser616Cys)
c.1567A>T (p.Ser523Cys)
c.1540A>T (p.Ser514Cys)
c.1891A>T (p.Ser631Cys)
2g.162435285T>CCA349220834KCNH7c.1867A>G (p.Ser623Gly)
c.1846A>G (p.Ser616Gly)
c.1567A>G (p.Ser523Gly)
c.1540A>G (p.Ser514Gly)
c.1891A>G (p.Ser631Gly)
2g.162435285T>GCA349220835KCNH7c.1867A>C (p.Ser623Arg)
c.1846A>C (p.Ser616Arg)
c.1567A>C (p.Ser523Arg)
c.1540A>C (p.Ser514Arg)
c.1891A>C (p.Ser631Arg)
2g.162435286G>ACA429731661KCNH7c.1866C>T (p.Phe622=)
c.1845C>T (p.Phe615=)
c.1566C>T (p.Phe522=)
c.1539C>T (p.Phe513=)
c.1890C>T (p.Phe630=)
COSMIC COSMIC
2g.162435286G>CCA349220836KCNH7c.1866C>G (p.Phe622Leu)
c.1845C>G (p.Phe615Leu)
c.1566C>G (p.Phe522Leu)
c.1539C>G (p.Phe513Leu)
c.1890C>G (p.Phe630Leu)
2g.162435286G>TCA349220837KCNH7c.1866C>A (p.Phe622Leu)
c.1845C>A (p.Phe615Leu)
c.1566C>A (p.Phe522Leu)
c.1539C>A (p.Phe513Leu)
c.1890C>A (p.Phe630Leu)
2g.162435287A>CCA349220840KCNH7c.1865T>G (p.Phe622Cys)
c.1844T>G (p.Phe615Cys)
c.1565T>G (p.Phe522Cys)
c.1538T>G (p.Phe513Cys)
c.1889T>G (p.Phe630Cys)
2g.162435287A>GCA349220839KCNH7c.1865T>C (p.Phe622Ser)
c.1844T>C (p.Phe615Ser)
c.1565T>C (p.Phe522Ser)
c.1538T>C (p.Phe513Ser)
c.1889T>C (p.Phe630Ser)
2g.162435287A>TCA349220838KCNH7c.1865T>A (p.Phe622Tyr)
c.1844T>A (p.Phe615Tyr)
c.1565T>A (p.Phe522Tyr)
c.1538T>A (p.Phe513Tyr)
c.1889T>A (p.Phe630Tyr)
2g.162435288A>CCA349220841KCNH7c.1864T>G (p.Phe622Val)
c.1843T>G (p.Phe615Val)
c.1564T>G (p.Phe522Val)
c.1537T>G (p.Phe513Val)
c.1888T>G (p.Phe630Val)
2g.162435288A>GCA349220842KCNH7c.1864T>C (p.Phe622Leu)
c.1843T>C (p.Phe615Leu)
c.1564T>C (p.Phe522Leu)
c.1537T>C (p.Phe513Leu)
c.1888T>C (p.Phe630Leu)
2g.162435288A>TCA349220843KCNH7c.1864T>A (p.Phe622Ile)
c.1843T>A (p.Phe615Ile)
c.1564T>A (p.Phe522Ile)
c.1537T>A (p.Phe513Ile)
c.1888T>A (p.Phe630Ile)
2g.162435289G>ACA429731663KCNH7c.1863C>T (p.Thr621=)
c.1842C>T (p.Thr614=)
c.1563C>T (p.Thr521=)
c.1536C>T (p.Thr512=)
c.1887C>T (p.Thr629=)
gnomAD v4
2g.162435289G>CCA429731664KCNH7c.1863C>G (p.Thr621=)
c.1842C>G (p.Thr614=)
c.1563C>G (p.Thr521=)
c.1536C>G (p.Thr512=)
c.1887C>G (p.Thr629=)
2g.162435289G>TCA429731665KCNH7c.1863C>A (p.Thr621=)
c.1842C>A (p.Thr614=)
c.1563C>A (p.Thr521=)
c.1536C>A (p.Thr512=)
c.1887C>A (p.Thr629=)
2g.162435290G>ACA349220844KCNH7c.1862C>T (p.Thr621Ile)
c.1841C>T (p.Thr614Ile)
c.1562C>T (p.Thr521Ile)
c.1535C>T (p.Thr512Ile)
c.1886C>T (p.Thr629Ile)
2g.162435290G>CCA349220845KCNH7c.1862C>G (p.Thr621Ser)
c.1841C>G (p.Thr614Ser)
c.1562C>G (p.Thr521Ser)
c.1535C>G (p.Thr512Ser)
c.1886C>G (p.Thr629Ser)
2g.162435290G>TCA349220846KCNH7c.1862C>A (p.Thr621Asn)
c.1841C>A (p.Thr614Asn)
c.1562C>A (p.Thr521Asn)
c.1535C>A (p.Thr512Asn)
c.1886C>A (p.Thr629Asn)
2g.162435291T>ACA349220847KCNH7c.1861A>T (p.Thr621Ser)
c.1840A>T (p.Thr614Ser)
c.1561A>T (p.Thr521Ser)
c.1534A>T (p.Thr512Ser)
c.1885A>T (p.Thr629Ser)
2g.162435291T>CCA349220849KCNH7c.1861A>G (p.Thr621Ala)
c.1840A>G (p.Thr614Ala)
c.1561A>G (p.Thr521Ala)
c.1534A>G (p.Thr512Ala)
c.1885A>G (p.Thr629Ala)
2g.162435291T>GCA349220848KCNH7c.1861A>C (p.Thr621Pro)
c.1840A>C (p.Thr614Pro)
c.1561A>C (p.Thr521Pro)
c.1534A>C (p.Thr512Pro)
c.1885A>C (p.Thr629Pro)
2g.162435292A>CCA349220850KCNH7c.1860T>G (p.Phe620Leu)
c.1839T>G (p.Phe613Leu)
c.1560T>G (p.Phe520Leu)
c.1533T>G (p.Phe511Leu)
c.1884T>G (p.Phe628Leu)
2g.162435292A>GCA429731669KCNH7c.1860T>C (p.Phe620=)
c.1839T>C (p.Phe613=)
c.1560T>C (p.Phe520=)
c.1533T>C (p.Phe511=)
c.1884T>C (p.Phe628=)
2g.162435292A>TCA349220851KCNH7c.1860T>A (p.Phe620Leu)
c.1839T>A (p.Phe613Leu)
c.1560T>A (p.Phe520Leu)
c.1533T>A (p.Phe511Leu)
c.1884T>A (p.Phe628Leu)
2g.162435293A>CCA349220852KCNH7c.1859T>G (p.Phe620Cys)
c.1838T>G (p.Phe613Cys)
c.1559T>G (p.Phe520Cys)
c.1532T>G (p.Phe511Cys)
c.1883T>G (p.Phe628Cys)
2g.162435293A>GCA349220853KCNH7c.1859T>C (p.Phe620Ser)
c.1838T>C (p.Phe613Ser)
c.1559T>C (p.Phe520Ser)
c.1532T>C (p.Phe511Ser)
c.1883T>C (p.Phe628Ser)
2g.162435293A>TCA349220854KCNH7c.1859T>A (p.Phe620Tyr)
c.1838T>A (p.Phe613Tyr)
c.1559T>A (p.Phe520Tyr)
c.1532T>A (p.Phe511Tyr)
c.1883T>A (p.Phe628Tyr)
2g.162435294A>CCA349220855KCNH7c.1858T>G (p.Phe620Val)
c.1837T>G (p.Phe613Val)
c.1558T>G (p.Phe520Val)
c.1531T>G (p.Phe511Val)
c.1882T>G (p.Phe628Val)
2g.162435294A>GCA349220856KCNH7c.1858T>C (p.Phe620Leu)
c.1837T>C (p.Phe613Leu)
c.1558T>C (p.Phe520Leu)
c.1531T>C (p.Phe511Leu)
c.1882T>C (p.Phe628Leu)
2g.162435294A>TCA349220857KCNH7c.1858T>A (p.Phe620Ile)
c.1837T>A (p.Phe613Ile)
c.1558T>A (p.Phe520Ile)
c.1531T>A (p.Phe511Ile)
c.1882T>A (p.Phe628Ile)
2g.162435295A>CCA349220858KCNH7c.1857T>G (p.Tyr619Ter)
c.1836T>G (p.Tyr612Ter)
c.1557T>G (p.Tyr519Ter)
c.1530T>G (p.Tyr510Ter)
c.1881T>G (p.Tyr627Ter)
2g.162435295A>GCA429731671KCNH7c.1857T>C (p.Tyr619=)
c.1836T>C (p.Tyr612=)
c.1557T>C (p.Tyr519=)
c.1530T>C (p.Tyr510=)
c.1881T>C (p.Tyr627=)
COSMIC COSMIC
2g.162435295A>TCA349220859KCNH7c.1857T>A (p.Tyr619Ter)
c.1836T>A (p.Tyr612Ter)
c.1557T>A (p.Tyr519Ter)
c.1530T>A (p.Tyr510Ter)
c.1881T>A (p.Tyr627Ter)
2g.162435296T>ACA349220862KCNH7c.1856A>T (p.Tyr619Phe)
c.1835A>T (p.Tyr612Phe)
c.1556A>T (p.Tyr519Phe)
c.1529A>T (p.Tyr510Phe)
c.1880A>T (p.Tyr627Phe)
2g.162435296T>CCA349220861KCNH7c.1856A>G (p.Tyr619Cys)
c.1835A>G (p.Tyr612Cys)
c.1556A>G (p.Tyr519Cys)
c.1529A>G (p.Tyr510Cys)
c.1880A>G (p.Tyr627Cys)
2g.162435296T>GCA349220860KCNH7c.1856A>C (p.Tyr619Ser)
c.1835A>C (p.Tyr612Ser)
c.1556A>C (p.Tyr519Ser)
c.1529A>C (p.Tyr510Ser)
c.1880A>C (p.Tyr627Ser)
2g.162435296_162435297delinsTACA1303221225KCNH7c.1855_1856delinsTA (p.Tyr619=)
c.1834_1835delinsTA (p.Tyr612=)
c.1555_1556delinsTA (p.Tyr519=)
c.1528_1529delinsTA (p.Tyr510=)
c.1879_1880delinsTA (p.Tyr627=)
2g.162435297A>CCA349220863KCNH7c.1855T>G (p.Tyr619Asp)
c.1834T>G (p.Tyr612Asp)
c.1555T>G (p.Tyr519Asp)
c.1528T>G (p.Tyr510Asp)
c.1879T>G (p.Tyr627Asp)
2g.162435297A>GCA349220864KCNH7c.1855T>C (p.Tyr619His)
c.1834T>C (p.Tyr612His)
c.1555T>C (p.Tyr519His)
c.1528T>C (p.Tyr510His)
c.1879T>C (p.Tyr627His)
2g.162435297A>TCA349220865KCNH7c.1855T>A (p.Tyr619Asn)
c.1834T>A (p.Tyr612Asn)
c.1555T>A (p.Tyr519Asn)
c.1528T>A (p.Tyr510Asn)
c.1879T>A (p.Tyr627Asn)
2g.162435299delCA537510005KCNH7c.1855del (p.Tyr619IlefsTer7)
c.1834del (p.Tyr612IlefsTer7)
c.1555del (p.Tyr519IlefsTer7)
c.1528del (p.Tyr510IlefsTer7)
c.1879del (p.Tyr627IlefsTer7)
dbSNP gnomAD v2
2g.162435298A>CCA429731674KCNH7c.1854T>G (p.Leu618=)
c.1833T>G (p.Leu611=)
c.1554T>G (p.Leu518=)
c.1527T>G (p.Leu509=)
c.1878T>G (p.Leu626=)
2g.162435298A>GCA429731673KCNH7c.1854T>C (p.Leu618=)
c.1833T>C (p.Leu611=)
c.1554T>C (p.Leu518=)
c.1527T>C (p.Leu509=)
c.1878T>C (p.Leu626=)
2g.162435298A>TCA429731672KCNH7c.1854T>A (p.Leu618=)
c.1833T>A (p.Leu611=)
c.1554T>A (p.Leu518=)
c.1527T>A (p.Leu509=)
c.1878T>A (p.Leu626=)
2g.162435299A>CCA349220866KCNH7c.1853T>G (p.Leu618Arg)
c.1832T>G (p.Leu611Arg)
c.1553T>G (p.Leu518Arg)
c.1526T>G (p.Leu509Arg)
c.1877T>G (p.Leu626Arg)
2g.162435299A>GCA349220867KCNH7c.1853T>C (p.Leu618Pro)
c.1832T>C (p.Leu611Pro)
c.1553T>C (p.Leu518Pro)
c.1526T>C (p.Leu509Pro)
c.1877T>C (p.Leu626Pro)
2g.162435299A>TCA349220868KCNH7c.1853T>A (p.Leu618His)
c.1832T>A (p.Leu611His)
c.1553T>A (p.Leu518His)
c.1526T>A (p.Leu509His)
c.1877T>A (p.Leu626His)
2g.162435300G>ACA349220871KCNH7c.1852C>T (p.Leu618Phe)
c.1831C>T (p.Leu611Phe)
c.1552C>T (p.Leu518Phe)
c.1525C>T (p.Leu509Phe)
c.1876C>T (p.Leu626Phe)
2g.162435300G>CCA349220870KCNH7c.1852C>G (p.Leu618Val)
c.1831C>G (p.Leu611Val)
c.1552C>G (p.Leu518Val)
c.1525C>G (p.Leu509Val)
c.1876C>G (p.Leu626Val)
2g.162435300G>TCA349220869KCNH7c.1852C>A (p.Leu618Ile)
c.1831C>A (p.Leu611Ile)
c.1552C>A (p.Leu518Ile)
c.1525C>A (p.Leu509Ile)
c.1876C>A (p.Leu626Ile)
2g.162435301T>ACA429731677KCNH7c.1851A>T (p.Ala617=)
c.1830A>T (p.Ala610=)
c.1551A>T (p.Ala517=)
c.1524A>T (p.Ala508=)
c.1875A>T (p.Ala625=)
2g.162435301T>CCA429731678KCNH7c.1851A>G (p.Ala617=)
c.1830A>G (p.Ala610=)
c.1551A>G (p.Ala517=)
c.1524A>G (p.Ala508=)
c.1875A>G (p.Ala625=)
gnomAD v4
2g.162435301T>GCA429731679KCNH7c.1851A>C (p.Ala617=)
c.1830A>C (p.Ala610=)
c.1551A>C (p.Ala517=)
c.1524A>C (p.Ala508=)
c.1875A>C (p.Ala625=)
2g.162435302G>ACA349220872KCNH7c.1850C>T (p.Ala617Val)
c.1829C>T (p.Ala610Val)
c.1550C>T (p.Ala517Val)
c.1523C>T (p.Ala508Val)
c.1874C>T (p.Ala625Val)
2g.162435302G>CCA349220873KCNH7c.1850C>G (p.Ala617Gly)
c.1829C>G (p.Ala610Gly)
c.1550C>G (p.Ala517Gly)
c.1523C>G (p.Ala508Gly)
c.1874C>G (p.Ala625Gly)
2g.162435302G>TCA349220874KCNH7c.1850C>A (p.Ala617Glu)
c.1829C>A (p.Ala610Glu)
c.1550C>A (p.Ala517Glu)
c.1523C>A (p.Ala508Glu)
c.1874C>A (p.Ala625Glu)
2g.162435303C>ACA349220875KCNH7c.1849G>T (p.Ala617Ser)
c.1828G>T (p.Ala610Ser)
c.1549G>T (p.Ala517Ser)
c.1522G>T (p.Ala508Ser)
c.1873G>T (p.Ala625Ser)
2g.162435303C>GCA349220876KCNH7c.1849G>C (p.Ala617Pro)
c.1828G>C (p.Ala610Pro)
c.1549G>C (p.Ala517Pro)
c.1522G>C (p.Ala508Pro)
c.1873G>C (p.Ala625Pro)
2g.162435303C>TCA349220877KCNH7c.1849G>A (p.Ala617Thr)
c.1828G>A (p.Ala610Thr)
c.1549G>A (p.Ala517Thr)
c.1522G>A (p.Ala508Thr)
c.1873G>A (p.Ala625Thr)
COSMIC COSMIC
2g.162435304T>ACA429731680KCNH7c.1848A>T (p.Thr616=)
c.1827A>T (p.Thr609=)
c.1548A>T (p.Thr516=)
c.1521A>T (p.Thr507=)
c.1872A>T (p.Thr624=)
2g.162435304T>CCA59809326KCNH7c.1848A>G (p.Thr616=)
c.1827A>G (p.Thr609=)
c.1548A>G (p.Thr516=)
c.1521A>G (p.Thr507=)
c.1872A>G (p.Thr624=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435304T>GCA429731681KCNH7c.1848A>C (p.Thr616=)
c.1827A>C (p.Thr609=)
c.1548A>C (p.Thr516=)
c.1521A>C (p.Thr507=)
c.1872A>C (p.Thr624=)
dbSNP
2g.162435304T=CA1303221230KCNH7c.1848A= (p.Thr616=)
c.1827A= (p.Thr609=)
c.1548A= (p.Thr516=)
c.1521A= (p.Thr507=)
c.1872A= (p.Thr624=)
2g.162435305G>ACA349220878KCNH7c.1847C>T (p.Thr616Ile)
c.1826C>T (p.Thr609Ile)
c.1547C>T (p.Thr516Ile)
c.1520C>T (p.Thr507Ile)
c.1871C>T (p.Thr624Ile)
2g.162435305G>CCA349220880KCNH7c.1847C>G (p.Thr616Arg)
c.1826C>G (p.Thr609Arg)
c.1547C>G (p.Thr516Arg)
c.1520C>G (p.Thr507Arg)
c.1871C>G (p.Thr624Arg)
2g.162435305G>TCA349220879KCNH7c.1847C>A (p.Thr616Lys)
c.1826C>A (p.Thr609Lys)
c.1547C>A (p.Thr516Lys)
c.1520C>A (p.Thr507Lys)
c.1871C>A (p.Thr624Lys)
2g.162435306T>ACA349220881KCNH7c.1846A>T (p.Thr616Ser)
c.1825A>T (p.Thr609Ser)
c.1546A>T (p.Thr516Ser)
c.1519A>T (p.Thr507Ser)
c.1870A>T (p.Thr624Ser)
2g.162435306T>CCA349220882KCNH7c.1846A>G (p.Thr616Ala)
c.1825A>G (p.Thr609Ala)
c.1546A>G (p.Thr516Ala)
c.1519A>G (p.Thr507Ala)
c.1870A>G (p.Thr624Ala)
2g.162435306T>GCA349220883KCNH7c.1846A>C (p.Thr616Pro)
c.1825A>C (p.Thr609Pro)
c.1546A>C (p.Thr516Pro)
c.1519A>C (p.Thr507Pro)
c.1870A>C (p.Thr624Pro)
2g.162435307G>ACA429731685KCNH7c.1845C>T (p.Val615=)
c.1824C>T (p.Val608=)
c.1545C>T (p.Val515=)
c.1518C>T (p.Val506=)
c.1869C>T (p.Val623=)
gnomAD v4
2g.162435307G>CCA429731686KCNH7c.1845C>G (p.Val615=)
c.1824C>G (p.Val608=)
c.1545C>G (p.Val515=)
c.1518C>G (p.Val506=)
c.1869C>G (p.Val623=)
2g.162435307G>TCA429731687KCNH7c.1845C>A (p.Val615=)
c.1824C>A (p.Val608=)
c.1545C>A (p.Val515=)
c.1518C>A (p.Val506=)
c.1869C>A (p.Val623=)
2g.162435308A>CCA349220884KCNH7c.1844T>G (p.Val615Gly)
c.1823T>G (p.Val608Gly)
c.1544T>G (p.Val515Gly)
c.1517T>G (p.Val506Gly)
c.1868T>G (p.Val623Gly)
2g.162435308A>GCA349220885KCNH7c.1844T>C (p.Val615Ala)
c.1823T>C (p.Val608Ala)
c.1544T>C (p.Val515Ala)
c.1517T>C (p.Val506Ala)
c.1868T>C (p.Val623Ala)
dbSNP
2g.162435308A>TCA349220886KCNH7c.1844T>A (p.Val615Asp)
c.1823T>A (p.Val608Asp)
c.1544T>A (p.Val515Asp)
c.1517T>A (p.Val506Asp)
c.1868T>A (p.Val623Asp)
2g.162435309C>ACA349220887KCNH7c.1843G>T (p.Val615Phe)
c.1822G>T (p.Val608Phe)
c.1543G>T (p.Val515Phe)
c.1516G>T (p.Val506Phe)
c.1867G>T (p.Val623Phe)
gnomAD v4 COSMIC COSMIC
2g.162435309C>GCA349220888KCNH7c.1843G>C (p.Val615Leu)
c.1822G>C (p.Val608Leu)
c.1543G>C (p.Val515Leu)
c.1516G>C (p.Val506Leu)
c.1867G>C (p.Val623Leu)
gnomAD v4
2g.162435309C>TCA349220889KCNH7c.1843G>A (p.Val615Ile)
c.1822G>A (p.Val608Ile)
c.1543G>A (p.Val515Ile)
c.1516G>A (p.Val506Ile)
c.1867G>A (p.Val623Ile)
gnomAD v4
2g.162435310G>ACA1935616KCNH7c.1842C>T (p.Tyr614=)
c.1821C>T (p.Tyr607=)
c.1542C>T (p.Tyr514=)
c.1515C>T (p.Tyr505=)
c.1866C>T (p.Tyr622=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435310G>CCA349220890KCNH7c.1842C>G (p.Tyr614Ter)
c.1821C>G (p.Tyr607Ter)
c.1542C>G (p.Tyr514Ter)
c.1515C>G (p.Tyr505Ter)
c.1866C>G (p.Tyr622Ter)
2g.162435310G=CA1303221235KCNH7c.1842C= (p.Tyr614=)
c.1821C= (p.Tyr607=)
c.1542C= (p.Tyr514=)
c.1515C= (p.Tyr505=)
c.1866C= (p.Tyr622=)
2g.162435310G>TCA349220891KCNH7c.1842C>A (p.Tyr614Ter)
c.1821C>A (p.Tyr607Ter)
c.1542C>A (p.Tyr514Ter)
c.1515C>A (p.Tyr505Ter)
c.1866C>A (p.Tyr622Ter)
2g.162435311T>ACA349220892KCNH7c.1841A>T (p.Tyr614Phe)
c.1820A>T (p.Tyr607Phe)
c.1541A>T (p.Tyr514Phe)
c.1514A>T (p.Tyr505Phe)
c.1865A>T (p.Tyr622Phe)
2g.162435311T>CCA349220894KCNH7c.1841A>G (p.Tyr614Cys)
c.1820A>G (p.Tyr607Cys)
c.1541A>G (p.Tyr514Cys)
c.1514A>G (p.Tyr505Cys)
c.1865A>G (p.Tyr622Cys)
2g.162435311T>GCA349220893KCNH7c.1841A>C (p.Tyr614Ser)
c.1820A>C (p.Tyr607Ser)
c.1541A>C (p.Tyr514Ser)
c.1514A>C (p.Tyr505Ser)
c.1865A>C (p.Tyr622Ser)
2g.162435312A>CCA349220895KCNH7c.1840T>G (p.Tyr614Asp)
c.1819T>G (p.Tyr607Asp)
c.1540T>G (p.Tyr514Asp)
c.1513T>G (p.Tyr505Asp)
c.1864T>G (p.Tyr622Asp)
2g.162435312A>GCA349220896KCNH7c.1840T>C (p.Tyr614His)
c.1819T>C (p.Tyr607His)
c.1540T>C (p.Tyr514His)
c.1513T>C (p.Tyr505His)
c.1864T>C (p.Tyr622His)
2g.162435312A>TCA349220897KCNH7c.1840T>A (p.Tyr614Asn)
c.1819T>A (p.Tyr607Asn)
c.1540T>A (p.Tyr514Asn)
c.1513T>A (p.Tyr505Asn)
c.1864T>A (p.Tyr622Asn)
2g.162435313T>ACA349220898KCNH7c.1839A>T (p.Lys613Asn)
c.1818A>T (p.Lys606Asn)
c.1539A>T (p.Lys513Asn)
c.1512A>T (p.Lys504Asn)
c.1863A>T (p.Lys621Asn)
2g.162435313T>CCA429731691KCNH7c.1839A>G (p.Lys613=)
c.1818A>G (p.Lys606=)
c.1539A>G (p.Lys513=)
c.1512A>G (p.Lys504=)
c.1863A>G (p.Lys621=)
2g.162435313T>GCA349220899KCNH7c.1839A>C (p.Lys613Asn)
c.1818A>C (p.Lys606Asn)
c.1539A>C (p.Lys513Asn)
c.1512A>C (p.Lys504Asn)
c.1863A>C (p.Lys621Asn)
2g.162435314T>ACA349220902KCNH7c.1838A>T (p.Lys613Ile)
c.1817A>T (p.Lys606Ile)
c.1538A>T (p.Lys513Ile)
c.1511A>T (p.Lys504Ile)
c.1862A>T (p.Lys621Ile)
2g.162435314T>CCA349220901KCNH7c.1838A>G (p.Lys613Arg)
c.1817A>G (p.Lys606Arg)
c.1538A>G (p.Lys513Arg)
c.1511A>G (p.Lys504Arg)
c.1862A>G (p.Lys621Arg)
2g.162435314T>GCA349220900KCNH7c.1838A>C (p.Lys613Thr)
c.1817A>C (p.Lys606Thr)
c.1538A>C (p.Lys513Thr)
c.1511A>C (p.Lys504Thr)
c.1862A>C (p.Lys621Thr)
2g.162435315T>ACA349220903KCNH7c.1837A>T (p.Lys613Ter)
c.1816A>T (p.Lys606Ter)
c.1537A>T (p.Lys513Ter)
c.1510A>T (p.Lys504Ter)
c.1861A>T (p.Lys621Ter)
2g.162435315T>CCA349220904KCNH7c.1837A>G (p.Lys613Glu)
c.1816A>G (p.Lys606Glu)
c.1537A>G (p.Lys513Glu)
c.1510A>G (p.Lys504Glu)
c.1861A>G (p.Lys621Glu)
2g.162435315T>GCA349220905KCNH7c.1837A>C (p.Lys613Gln)
c.1816A>C (p.Lys606Gln)
c.1537A>C (p.Lys513Gln)
c.1510A>C (p.Lys504Gln)
c.1861A>C (p.Lys621Gln)
2g.162435316G>ACA1935617KCNH7c.1836C>T (p.Asp612=)
c.1815C>T (p.Asp605=)
c.1536C>T (p.Asp512=)
c.1509C>T (p.Asp503=)
c.1860C>T (p.Asp620=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435316G>CCA349220906KCNH7c.1836C>G (p.Asp612Glu)
c.1815C>G (p.Asp605Glu)
c.1536C>G (p.Asp512Glu)
c.1509C>G (p.Asp503Glu)
c.1860C>G (p.Asp620Glu)
2g.162435316G=CA1303221238KCNH7c.1836C= (p.Asp612=)
c.1815C= (p.Asp605=)
c.1536C= (p.Asp512=)
c.1509C= (p.Asp503=)
c.1860C= (p.Asp620=)
2g.162435316G>TCA349220907KCNH7c.1836C>A (p.Asp612Glu)
c.1815C>A (p.Asp605Glu)
c.1536C>A (p.Asp512Glu)
c.1509C>A (p.Asp503Glu)
c.1860C>A (p.Asp620Glu)
2g.162435317T>ACA349220908KCNH7c.1835A>T (p.Asp612Val)
c.1814A>T (p.Asp605Val)
c.1535A>T (p.Asp512Val)
c.1508A>T (p.Asp503Val)
c.1859A>T (p.Asp620Val)
2g.162435317T>CCA349220910KCNH7c.1835A>G (p.Asp612Gly)
c.1814A>G (p.Asp605Gly)
c.1535A>G (p.Asp512Gly)
c.1508A>G (p.Asp503Gly)
c.1859A>G (p.Asp620Gly)
2g.162435317T>GCA349220909KCNH7c.1835A>C (p.Asp612Ala)
c.1814A>C (p.Asp605Ala)
c.1535A>C (p.Asp512Ala)
c.1508A>C (p.Asp503Ala)
c.1859A>C (p.Asp620Ala)
2g.162435318C>ACA349220911KCNH7c.1834G>T (p.Asp612Tyr)
c.1813G>T (p.Asp605Tyr)
c.1534G>T (p.Asp512Tyr)
c.1507G>T (p.Asp503Tyr)
c.1858G>T (p.Asp620Tyr)
2g.162435318C>GCA349220912KCNH7c.1834G>C (p.Asp612His)
c.1813G>C (p.Asp605His)
c.1534G>C (p.Asp512His)
c.1507G>C (p.Asp503His)
c.1858G>C (p.Asp620His)
2g.162435318C>TCA349220913KCNH7c.1834G>A (p.Asp612Asn)
c.1813G>A (p.Asp605Asn)
c.1534G>A (p.Asp512Asn)
c.1507G>A (p.Asp503Asn)
c.1858G>A (p.Asp620Asn)
2g.162435319T>ACA349220914KCNH7c.1833A>T (p.Lys611Asn)
c.1812A>T (p.Lys604Asn)
c.1533A>T (p.Lys511Asn)
c.1506A>T (p.Lys502Asn)
c.1857A>T (p.Lys619Asn)
2g.162435319T>CCA429731694KCNH7c.1833A>G (p.Lys611=)
c.1812A>G (p.Lys604=)
c.1533A>G (p.Lys511=)
c.1506A>G (p.Lys502=)
c.1857A>G (p.Lys619=)
2g.162435319T>GCA349220915KCNH7c.1833A>C (p.Lys611Asn)
c.1812A>C (p.Lys604Asn)
c.1533A>C (p.Lys511Asn)
c.1506A>C (p.Lys502Asn)
c.1857A>C (p.Lys619Asn)
2g.162435320T>ACA349220916KCNH7c.1832A>T (p.Lys611Ile)
c.1811A>T (p.Lys604Ile)
c.1532A>T (p.Lys511Ile)
c.1505A>T (p.Lys502Ile)
c.1856A>T (p.Lys619Ile)
2g.162435320T>CCA349220917KCNH7c.1832A>G (p.Lys611Arg)
c.1811A>G (p.Lys604Arg)
c.1532A>G (p.Lys511Arg)
c.1505A>G (p.Lys502Arg)
c.1856A>G (p.Lys619Arg)
2g.162435320T>GCA349220918KCNH7c.1832A>C (p.Lys611Thr)
c.1811A>C (p.Lys604Thr)
c.1532A>C (p.Lys511Thr)
c.1505A>C (p.Lys502Thr)
c.1856A>C (p.Lys619Thr)
2g.162435321T>ACA349220919KCNH7c.1831A>T (p.Lys611Ter)
c.1810A>T (p.Lys604Ter)
c.1531A>T (p.Lys511Ter)
c.1504A>T (p.Lys502Ter)
c.1855A>T (p.Lys619Ter)
2g.162435321T>CCA1935618KCNH7c.1831A>G (p.Lys611Glu)
c.1810A>G (p.Lys604Glu)
c.1531A>G (p.Lys511Glu)
c.1504A>G (p.Lys502Glu)
c.1855A>G (p.Lys619Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435321T>GCA349220920KCNH7c.1831A>C (p.Lys611Gln)
c.1810A>C (p.Lys604Gln)
c.1531A>C (p.Lys511Gln)
c.1504A>C (p.Lys502Gln)
c.1855A>C (p.Lys619Gln)
2g.162435321T=CA1303221243KCNH7c.1831A= (p.Lys611=)
c.1810A= (p.Lys604=)
c.1531A= (p.Lys511=)
c.1504A= (p.Lys502=)
c.1855A= (p.Lys619=)
2g.162435322A>CCA349220921KCNH7c.1830T>G (p.Ile610Met)
c.1809T>G (p.Ile603Met)
c.1530T>G (p.Ile510Met)
c.1503T>G (p.Ile501Met)
c.1854T>G (p.Ile618Met)
2g.162435322A>GCA429731696KCNH7c.1830T>C (p.Ile610=)
c.1809T>C (p.Ile603=)
c.1530T>C (p.Ile510=)
c.1503T>C (p.Ile501=)
c.1854T>C (p.Ile618=)
2g.162435322A>TCA429731698KCNH7c.1830T>A (p.Ile610=)
c.1809T>A (p.Ile603=)
c.1530T>A (p.Ile510=)
c.1503T>A (p.Ile501=)
c.1854T>A (p.Ile618=)
2g.162435323A>CCA349220923KCNH7c.1829T>G (p.Ile610Ser)
c.1808T>G (p.Ile603Ser)
c.1529T>G (p.Ile510Ser)
c.1502T>G (p.Ile501Ser)
c.1853T>G (p.Ile618Ser)
2g.162435323A>GCA349220922KCNH7c.1829T>C (p.Ile610Thr)
c.1808T>C (p.Ile603Thr)
c.1529T>C (p.Ile510Thr)
c.1502T>C (p.Ile501Thr)
c.1853T>C (p.Ile618Thr)
gnomAD v4
2g.162435323A>TCA349220924KCNH7c.1829T>A (p.Ile610Asn)
c.1808T>A (p.Ile603Asn)
c.1529T>A (p.Ile510Asn)
c.1502T>A (p.Ile501Asn)
c.1853T>A (p.Ile618Asn)
2g.162435324T>ACA349220925KCNH7c.1828A>T (p.Ile610Phe)
c.1807A>T (p.Ile603Phe)
c.1528A>T (p.Ile510Phe)
c.1501A>T (p.Ile501Phe)
c.1852A>T (p.Ile618Phe)
2g.162435324T>CCA1935619KCNH7c.1828A>G (p.Ile610Val)
c.1807A>G (p.Ile603Val)
c.1528A>G (p.Ile510Val)
c.1501A>G (p.Ile501Val)
c.1852A>G (p.Ile618Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435324T>GCA349220926KCNH7c.1828A>C (p.Ile610Leu)
c.1807A>C (p.Ile603Leu)
c.1528A>C (p.Ile510Leu)
c.1501A>C (p.Ile501Leu)
c.1852A>C (p.Ile618Leu)
2g.162435324T=CA1303221248KCNH7c.1828A= (p.Ile610=)
c.1807A= (p.Ile603=)
c.1528A= (p.Ile510=)
c.1501A= (p.Ile501=)
c.1852A= (p.Ile618=)
2g.162435325G>ACA429731699KCNH7c.1827C>T (p.Ser609=)
c.1806C>T (p.Ser602=)
c.1527C>T (p.Ser509=)
c.1500C>T (p.Ser500=)
c.1851C>T (p.Ser617=)
gnomAD v4
2g.162435325G>CCA429731704KCNH7c.1827C>G (p.Ser609=)
c.1806C>G (p.Ser602=)
c.1527C>G (p.Ser509=)
c.1500C>G (p.Ser500=)
c.1851C>G (p.Ser617=)
dbSNP gnomAD v4
2g.162435325G=CA1303221251KCNH7c.1827C= (p.Ser609=)
c.1806C= (p.Ser602=)
c.1527C= (p.Ser509=)
c.1500C= (p.Ser500=)
c.1851C= (p.Ser617=)
2g.162435325G>TCA429731701KCNH7c.1827C>A (p.Ser609=)
c.1806C>A (p.Ser602=)
c.1527C>A (p.Ser509=)
c.1500C>A (p.Ser500=)
c.1851C>A (p.Ser617=)
2g.162435326G>ACA349220927KCNH7c.1826C>T (p.Ser609Phe)
c.1805C>T (p.Ser602Phe)
c.1526C>T (p.Ser509Phe)
c.1499C>T (p.Ser500Phe)
c.1850C>T (p.Ser617Phe)
2g.162435326G>CCA349220929KCNH7c.1826C>G (p.Ser609Cys)
c.1805C>G (p.Ser602Cys)
c.1526C>G (p.Ser509Cys)
c.1499C>G (p.Ser500Cys)
c.1850C>G (p.Ser617Cys)
2g.162435326G>TCA349220928KCNH7c.1826C>A (p.Ser609Tyr)
c.1805C>A (p.Ser602Tyr)
c.1526C>A (p.Ser509Tyr)
c.1499C>A (p.Ser500Tyr)
c.1850C>A (p.Ser617Tyr)
2g.162435327A>CCA349220930KCNH7c.1825T>G (p.Ser609Ala)
c.1804T>G (p.Ser602Ala)
c.1525T>G (p.Ser509Ala)
c.1498T>G (p.Ser500Ala)
c.1849T>G (p.Ser617Ala)
2g.162435327A>GCA349220931KCNH7c.1825T>C (p.Ser609Pro)
c.1804T>C (p.Ser602Pro)
c.1525T>C (p.Ser509Pro)
c.1498T>C (p.Ser500Pro)
c.1849T>C (p.Ser617Pro)
2g.162435327A>TCA349220932KCNH7c.1825T>A (p.Ser609Thr)
c.1804T>A (p.Ser602Thr)
c.1525T>A (p.Ser509Thr)
c.1498T>A (p.Ser500Thr)
c.1849T>A (p.Ser617Thr)
2g.162435328T>ACA429731706KCNH7c.1824A>T (p.Pro608=)
c.1803A>T (p.Pro601=)
c.1524A>T (p.Pro508=)
c.1497A>T (p.Pro499=)
c.1848A>T (p.Pro616=)
2g.162435328T>CCA429731708KCNH7c.1824A>G (p.Pro608=)
c.1803A>G (p.Pro601=)
c.1524A>G (p.Pro508=)
c.1497A>G (p.Pro499=)
c.1848A>G (p.Pro616=)
2g.162435328T>GCA429731710KCNH7c.1824A>C (p.Pro608=)
c.1803A>C (p.Pro601=)
c.1524A>C (p.Pro508=)
c.1497A>C (p.Pro499=)
c.1848A>C (p.Pro616=)
2g.162435329G>ACA1935620KCNH7c.1823C>T (p.Pro608Leu)
c.1802C>T (p.Pro601Leu)
c.1523C>T (p.Pro508Leu)
c.1496C>T (p.Pro499Leu)
c.1847C>T (p.Pro616Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435329G>CCA349220933KCNH7c.1823C>G (p.Pro608Arg)
c.1802C>G (p.Pro601Arg)
c.1523C>G (p.Pro508Arg)
c.1496C>G (p.Pro499Arg)
c.1847C>G (p.Pro616Arg)
2g.162435329G=CA1303221256KCNH7c.1823C= (p.Pro608=)
c.1802C= (p.Pro601=)
c.1523C= (p.Pro508=)
c.1496C= (p.Pro499=)
c.1847C= (p.Pro616=)
2g.162435329G>TCA349220934KCNH7c.1823C>A (p.Pro608Gln)
c.1802C>A (p.Pro601Gln)
c.1523C>A (p.Pro508Gln)
c.1496C>A (p.Pro499Gln)
c.1847C>A (p.Pro616Gln)
2g.162435330G>ACA349220935KCNH7c.1822C>T (p.Pro608Ser)
c.1801C>T (p.Pro601Ser)
c.1522C>T (p.Pro508Ser)
c.1495C>T (p.Pro499Ser)
c.1846C>T (p.Pro616Ser)
2g.162435330G>CCA349220936KCNH7c.1822C>G (p.Pro608Ala)
c.1801C>G (p.Pro601Ala)
c.1522C>G (p.Pro508Ala)
c.1495C>G (p.Pro499Ala)
c.1846C>G (p.Pro616Ala)
2g.162435330G>TCA349220937KCNH7c.1822C>A (p.Pro608Thr)
c.1801C>A (p.Pro601Thr)
c.1522C>A (p.Pro508Thr)
c.1495C>A (p.Pro499Thr)
c.1846C>A (p.Pro616Thr)
2g.162435331T>ACA429731713KCNH7c.1821A>T (p.Gly607=)
c.1800A>T (p.Gly600=)
c.1521A>T (p.Gly507=)
c.1494A>T (p.Gly498=)
c.1845A>T (p.Gly615=)
2g.162435331T>CCA429731715KCNH7c.1821A>G (p.Gly607=)
c.1800A>G (p.Gly600=)
c.1521A>G (p.Gly507=)
c.1494A>G (p.Gly498=)
c.1845A>G (p.Gly615=)
2g.162435331T>GCA1935621KCNH7c.1821A>C (p.Gly607=)
c.1800A>C (p.Gly600=)
c.1521A>C (p.Gly507=)
c.1494A>C (p.Gly498=)
c.1845A>C (p.Gly615=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435331T=CA1303221259KCNH7c.1821A= (p.Gly607=)
c.1800A= (p.Gly600=)
c.1521A= (p.Gly507=)
c.1494A= (p.Gly498=)
c.1845A= (p.Gly615=)
2g.162435332C>ACA349220940KCNH7c.1820G>T (p.Gly607Val)
c.1799G>T (p.Gly600Val)
c.1520G>T (p.Gly507Val)
c.1493G>T (p.Gly498Val)
c.1844G>T (p.Gly615Val)
2g.162435332C=CA1303221263KCNH7c.1820G= (p.Gly607=)
c.1799G= (p.Gly600=)
c.1520G= (p.Gly507=)
c.1493G= (p.Gly498=)
c.1844G= (p.Gly615=)
2g.162435332C>GCA349220939KCNH7c.1820G>C (p.Gly607Ala)
c.1799G>C (p.Gly600Ala)
c.1520G>C (p.Gly507Ala)
c.1493G>C (p.Gly498Ala)
c.1844G>C (p.Gly615Ala)
dbSNP gnomAD v2
2g.162435332C>TCA349220938KCNH7c.1820G>A (p.Gly607Glu)
c.1799G>A (p.Gly600Glu)
c.1520G>A (p.Gly507Glu)
c.1493G>A (p.Gly498Glu)
c.1844G>A (p.Gly615Glu)
2g.162435333C>ACA349220941KCNH7c.1819G>T (p.Gly607Ter)
c.1798G>T (p.Gly600Ter)
c.1519G>T (p.Gly507Ter)
c.1492G>T (p.Gly498Ter)
c.1843G>T (p.Gly615Ter)
2g.162435333C>GCA349220942KCNH7c.1819G>C (p.Gly607Arg)
c.1798G>C (p.Gly600Arg)
c.1519G>C (p.Gly507Arg)
c.1492G>C (p.Gly498Arg)
c.1843G>C (p.Gly615Arg)
2g.162435333C>TCA349220943KCNH7c.1819G>A (p.Gly607Arg)
c.1798G>A (p.Gly600Arg)
c.1519G>A (p.Gly507Arg)
c.1492G>A (p.Gly498Arg)
c.1843G>A (p.Gly615Arg)
2g.162435334A=CA1303221268KCNH7c.1818T= (p.Ser606=)
c.1797T= (p.Ser599=)
c.1518T= (p.Ser506=)
c.1491T= (p.Ser497=)
c.1842T= (p.Ser614=)
2g.162435334A>CCA429731716KCNH7c.1818T>G (p.Ser606=)
c.1797T>G (p.Ser599=)
c.1518T>G (p.Ser506=)
c.1491T>G (p.Ser497=)
c.1842T>G (p.Ser614=)
2g.162435334A>GCA429731717KCNH7c.1818T>C (p.Ser606=)
c.1797T>C (p.Ser599=)
c.1518T>C (p.Ser506=)
c.1491T>C (p.Ser497=)
c.1842T>C (p.Ser614=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435334A>TCA429731718KCNH7c.1818T>A (p.Ser606=)
c.1797T>A (p.Ser599=)
c.1518T>A (p.Ser506=)
c.1491T>A (p.Ser497=)
c.1842T>A (p.Ser614=)
2g.162435335G>ACA349220944KCNH7c.1817C>T (p.Ser606Phe)
c.1796C>T (p.Ser599Phe)
c.1517C>T (p.Ser506Phe)
c.1490C>T (p.Ser497Phe)
c.1841C>T (p.Ser614Phe)
2g.162435335G>CCA349220945KCNH7c.1817C>G (p.Ser606Cys)
c.1796C>G (p.Ser599Cys)
c.1517C>G (p.Ser506Cys)
c.1490C>G (p.Ser497Cys)
c.1841C>G (p.Ser614Cys)
2g.162435335G>TCA349220946KCNH7c.1817C>A (p.Ser606Tyr)
c.1796C>A (p.Ser599Tyr)
c.1517C>A (p.Ser506Tyr)
c.1490C>A (p.Ser497Tyr)
c.1841C>A (p.Ser614Tyr)
2g.162435336A>CCA349220947KCNH7c.1816T>G (p.Ser606Ala)
c.1795T>G (p.Ser599Ala)
c.1516T>G (p.Ser506Ala)
c.1489T>G (p.Ser497Ala)
c.1840T>G (p.Ser614Ala)
2g.162435336A>GCA349220948KCNH7c.1816T>C (p.Ser606Pro)
c.1795T>C (p.Ser599Pro)
c.1516T>C (p.Ser506Pro)
c.1489T>C (p.Ser497Pro)
c.1840T>C (p.Ser614Pro)
2g.162435336A>TCA349220949KCNH7c.1816T>A (p.Ser606Thr)
c.1795T>A (p.Ser599Thr)
c.1516T>A (p.Ser506Thr)
c.1489T>A (p.Ser497Thr)
c.1840T>A (p.Ser614Thr)
2g.162435337A>CCA349220950KCNH7c.1815T>G (p.Ser605Arg)
c.1794T>G (p.Ser598Arg)
c.1515T>G (p.Ser505Arg)
c.1488T>G (p.Ser496Arg)
c.1839T>G (p.Ser613Arg)
2g.162435337A>GCA429731719KCNH7c.1815T>C (p.Ser605=)
c.1794T>C (p.Ser598=)
c.1515T>C (p.Ser505=)
c.1488T>C (p.Ser496=)
c.1839T>C (p.Ser613=)
2g.162435337A>TCA349220951KCNH7c.1815T>A (p.Ser605Arg)
c.1794T>A (p.Ser598Arg)
c.1515T>A (p.Ser505Arg)
c.1488T>A (p.Ser496Arg)
c.1839T>A (p.Ser613Arg)
2g.162435338C>ACA349220953KCNH7c.1814G>T (p.Ser605Ile)
c.1793G>T (p.Ser598Ile)
c.1514G>T (p.Ser505Ile)
c.1487G>T (p.Ser496Ile)
c.1838G>T (p.Ser613Ile)
2g.162435338C>GCA349220954KCNH7c.1814G>C (p.Ser605Thr)
c.1793G>C (p.Ser598Thr)
c.1514G>C (p.Ser505Thr)
c.1487G>C (p.Ser496Thr)
c.1838G>C (p.Ser613Thr)
2g.162435338C>TCA349220952KCNH7c.1814G>A (p.Ser605Asn)
c.1793G>A (p.Ser598Asn)
c.1514G>A (p.Ser505Asn)
c.1487G>A (p.Ser496Asn)
c.1838G>A (p.Ser613Asn)
gnomAD v4
2g.162435339T>ACA349220955KCNH7c.1813A>T (p.Ser605Cys)
c.1792A>T (p.Ser598Cys)
c.1513A>T (p.Ser505Cys)
c.1486A>T (p.Ser496Cys)
c.1837A>T (p.Ser613Cys)
2g.162435339T>CCA349220956KCNH7c.1813A>G (p.Ser605Gly)
c.1792A>G (p.Ser598Gly)
c.1513A>G (p.Ser505Gly)
c.1486A>G (p.Ser496Gly)
c.1837A>G (p.Ser613Gly)
2g.162435339T>GCA349220957KCNH7c.1813A>C (p.Ser605Arg)
c.1792A>C (p.Ser598Arg)
c.1513A>C (p.Ser505Arg)
c.1486A>C (p.Ser496Arg)
c.1837A>C (p.Ser613Arg)
2g.162435340T>ACA429731720KCNH7c.1812A>T (p.Ser604=)
c.1791A>T (p.Ser597=)
c.1512A>T (p.Ser504=)
c.1485A>T (p.Ser495=)
c.1836A>T (p.Ser612=)
2g.162435340T>CCA1935622KCNH7c.1812A>G (p.Ser604=)
c.1791A>G (p.Ser597=)
c.1512A>G (p.Ser504=)
c.1485A>G (p.Ser495=)
c.1836A>G (p.Ser612=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435340T>GCA429731721KCNH7c.1812A>C (p.Ser604=)
c.1791A>C (p.Ser597=)
c.1512A>C (p.Ser504=)
c.1485A>C (p.Ser495=)
c.1836A>C (p.Ser612=)
gnomAD v4
2g.162435340T=CA1303221272KCNH7c.1812A= (p.Ser604=)
c.1791A= (p.Ser597=)
c.1512A= (p.Ser504=)
c.1485A= (p.Ser495=)
c.1836A= (p.Ser612=)
2g.162435341G>ACA349220958KCNH7c.1811C>T (p.Ser604Leu)
c.1790C>T (p.Ser597Leu)
c.1511C>T (p.Ser504Leu)
c.1484C>T (p.Ser495Leu)
c.1835C>T (p.Ser612Leu)
2g.162435341G>CCA349220959KCNH7c.1811C>G (p.Ser604Ter)
c.1790C>G (p.Ser597Ter)
c.1511C>G (p.Ser504Ter)
c.1484C>G (p.Ser495Ter)
c.1835C>G (p.Ser612Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435341G=CA1303221279KCNH7c.1811C= (p.Ser604=)
c.1790C= (p.Ser597=)
c.1511C= (p.Ser504=)
c.1484C= (p.Ser495=)
c.1835C= (p.Ser612=)
2g.162435341G>TCA349220960KCNH7c.1811C>A (p.Ser604Ter)
c.1790C>A (p.Ser597Ter)
c.1511C>A (p.Ser504Ter)
c.1484C>A (p.Ser495Ter)
c.1835C>A (p.Ser612Ter)
2g.162435342A=CA1303221284KCNH7c.1810T= (p.Ser604=)
c.1789T= (p.Ser597=)
c.1510T= (p.Ser504=)
c.1483T= (p.Ser495=)
c.1834T= (p.Ser612=)
2g.162435342A>CCA1935623KCNH7c.1810T>G (p.Ser604Ala)
c.1789T>G (p.Ser597Ala)
c.1510T>G (p.Ser504Ala)
c.1483T>G (p.Ser495Ala)
c.1834T>G (p.Ser612Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435342A>GCA349220961KCNH7c.1810T>C (p.Ser604Pro)
c.1789T>C (p.Ser597Pro)
c.1510T>C (p.Ser504Pro)
c.1483T>C (p.Ser495Pro)
c.1834T>C (p.Ser612Pro)
2g.162435342A>TCA349220962KCNH7c.1810T>A (p.Ser604Thr)
c.1789T>A (p.Ser597Thr)
c.1510T>A (p.Ser504Thr)
c.1483T>A (p.Ser495Thr)
c.1834T>A (p.Ser612Thr)
2g.162435343G>ACA429731722KCNH7c.1809C>T (p.Asp603=)
c.1788C>T (p.Asp596=)
c.1509C>T (p.Asp503=)
c.1482C>T (p.Asp494=)
c.1833C>T (p.Asp611=)
2g.162435343G>CCA349220963KCNH7c.1809C>G (p.Asp603Glu)
c.1788C>G (p.Asp596Glu)
c.1509C>G (p.Asp503Glu)
c.1482C>G (p.Asp494Glu)
c.1833C>G (p.Asp611Glu)
2g.162435343G>TCA349220964KCNH7c.1809C>A (p.Asp603Glu)
c.1788C>A (p.Asp596Glu)
c.1509C>A (p.Asp503Glu)
c.1482C>A (p.Asp494Glu)
c.1833C>A (p.Asp611Glu)
2g.162435344T>ACA349220966KCNH7c.1808A>T (p.Asp603Val)
c.1787A>T (p.Asp596Val)
c.1508A>T (p.Asp503Val)
c.1481A>T (p.Asp494Val)
c.1832A>T (p.Asp611Val)
COSMIC COSMIC
2g.162435344T>CCA349220967KCNH7c.1808A>G (p.Asp603Gly)
c.1787A>G (p.Asp596Gly)
c.1508A>G (p.Asp503Gly)
c.1481A>G (p.Asp494Gly)
c.1832A>G (p.Asp611Gly)
2g.162435344T>GCA349220965KCNH7c.1808A>C (p.Asp603Ala)
c.1787A>C (p.Asp596Ala)
c.1508A>C (p.Asp503Ala)
c.1481A>C (p.Asp494Ala)
c.1832A>C (p.Asp611Ala)

Number of alleles fetched