Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63408413_63408444delinsCTGCTTCTCCACCTTCCCGAGCCGTCCCATCACA2374775193KCNQ2c.1910_1941delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met637=)
c.1856_1887delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met619=)
n.41_72delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG
c.1253_1284delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met418=)
n.12_43delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG
c.1763_1794delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met588=)
c.1424_1455delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met475=)
c.1772_1803delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met591=)
c.1880_1911delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met627=)
c.1844_1875delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met615=)
c.1802_1833delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met601=)
c.1679+5006_1679+5037delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (n.1679+5006_1679+5037delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG)
c.1898_1929delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met633=)
c.1964_1995delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met655=)
c.1961_1992delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met654=)
c.1934_1965delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met645=)
c.1853_1884delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met618=)
c.1838_1869delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met613=)
c.1445_1476delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met482=)
c.1907_1938delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met636=)
c.1841_1872delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met614=)
c.1799_1830delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met600=)
c.872_903delinsTGATGGGACGGCTCGGGAAGGTGGAGAAGCAG (p.Met291=)
20g.63408418_63408448delCA10654778KCNQ2c.1910_1940del (p.Met637ArgfsTer13)
c.1856_1886del (p.Met619ArgfsTer13)
n.41_71del
c.1253_1283del (p.Met418ArgfsTer13)
n.12_42del
c.1763_1793del (p.Met588ArgfsTer13)
c.1424_1454del (p.Met475ArgfsTer13)
c.1772_1802del (p.Met591ArgfsTer13)
c.1880_1910del (p.Met627ArgfsTer13)
c.1844_1874del (p.Met615ArgfsTer13)
c.1802_1832del (p.Met601ArgfsTer13)
c.1679+5006_1679+5036del (n.1679+5006_1679+5036del)
c.1898_1928del (p.Met633ArgfsTer13)
c.1964_1994del (p.Met655ArgfsTer13)
c.1961_1991del (p.Met654ArgfsTer13)
c.1934_1964del (p.Met645ArgfsTer13)
c.1853_1883del (p.Met618ArgfsTer13)
c.1838_1868del (p.Met613ArgfsTer13)
c.1445_1475del (p.Met482ArgfsTer13)
c.1964_1994del (p.Met655ArgfsTer21)
c.1907_1937del (p.Met636ArgfsTer13)
c.1841_1871del (p.Met614ArgfsTer13)
c.1799_1829del (p.Met600ArgfsTer13)
c.872_902del (p.Met291ArgfsTer13)
 ClinVar dbSNP
20g.63408423_63408437delCA2573157310KCNQ2c.1917_1931del (p.Arg640_Val644del)
c.1863_1877del (p.Arg622_Val626del)
n.48_62del
c.1260_1274del (p.Arg421_Val425del)
n.19_33del
c.1770_1784del (p.Arg591_Val595del)
c.1431_1445del (p.Arg478_Val482del)
c.1779_1793del (p.Arg594_Val598del)
c.1887_1901del (p.Arg630_Val634del)
c.1851_1865del (p.Arg618_Val622del)
c.1809_1823del (p.Arg604_Val608del)
c.1679+5013_1679+5027del (n.1679+5013_1679+5027del)
c.1905_1919del (p.Arg636_Val640del)
c.1971_1985del (p.Arg658_Val662del)
c.1968_1982del (p.Arg657_Val661del)
c.1941_1955del (p.Arg648_Val652del)
c.1860_1874del (p.Arg621_Val625del)
c.1845_1859del (p.Arg616_Val620del)
c.1452_1466del (p.Arg485_Val489del)
c.1914_1928del (p.Arg639_Val643del)
c.1848_1862del (p.Arg617_Val621del)
c.1806_1820del (p.Arg603_Val607del)
c.879_893del (p.Arg294_Val298del)
 dbSNP
20g.63408436G>ACA9958233KCNQ2c.1918C>T (p.Arg640Trp)
c.1864C>T (p.Arg622Trp)
n.49C>T
c.1261C>T (p.Arg421Trp)
n.20C>T
c.1771C>T (p.Arg591Trp)
c.1432C>T (p.Arg478Trp)
c.1780C>T (p.Arg594Trp)
c.1888C>T (p.Arg630Trp)
c.1852C>T (p.Arg618Trp)
c.1810C>T (p.Arg604Trp)
c.1679+5014C>T (n.1679+5014C>T)
c.1906C>T (p.Arg636Trp)
c.1972C>T (p.Arg658Trp)
c.1969C>T (p.Arg657Trp)
c.1942C>T (p.Arg648Trp)
c.1861C>T (p.Arg621Trp)
c.1846C>T (p.Arg616Trp)
c.1453C>T (p.Arg485Trp)
c.1915C>T (p.Arg639Trp)
c.1849C>T (p.Arg617Trp)
c.1807C>T (p.Arg603Trp)
c.880C>T (p.Arg294Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408436G>CCA409640244KCNQ2c.1918C>G (p.Arg640Gly)
c.1864C>G (p.Arg622Gly)
n.49C>G
c.1261C>G (p.Arg421Gly)
n.20C>G
c.1771C>G (p.Arg591Gly)
c.1432C>G (p.Arg478Gly)
c.1780C>G (p.Arg594Gly)
c.1888C>G (p.Arg630Gly)
c.1852C>G (p.Arg618Gly)
c.1810C>G (p.Arg604Gly)
c.1679+5014C>G (n.1679+5014C>G)
c.1906C>G (p.Arg636Gly)
c.1972C>G (p.Arg658Gly)
c.1969C>G (p.Arg657Gly)
c.1942C>G (p.Arg648Gly)
c.1861C>G (p.Arg621Gly)
c.1846C>G (p.Arg616Gly)
c.1453C>G (p.Arg485Gly)
c.1915C>G (p.Arg639Gly)
c.1849C>G (p.Arg617Gly)
c.1807C>G (p.Arg603Gly)
c.880C>G (p.Arg294Gly)
20g.63408436G=CA2374775201KCNQ2c.1918C= (p.Arg640=)
c.1864C= (p.Arg622=)
n.49C=
c.1261C= (p.Arg421=)
n.20C=
c.1771C= (p.Arg591=)
c.1432C= (p.Arg478=)
c.1780C= (p.Arg594=)
c.1888C= (p.Arg630=)
c.1852C= (p.Arg618=)
c.1810C= (p.Arg604=)
c.1679+5014C= (n.1679+5014C=)
c.1906C= (p.Arg636=)
c.1972C= (p.Arg658=)
c.1969C= (p.Arg657=)
c.1942C= (p.Arg648=)
c.1861C= (p.Arg621=)
c.1846C= (p.Arg616=)
c.1453C= (p.Arg485=)
c.1915C= (p.Arg639=)
c.1849C= (p.Arg617=)
c.1807C= (p.Arg603=)
c.880C= (p.Arg294=)
20g.63408436G>TCA511203540KCNQ2c.1918C>A (p.Arg640=)
c.1864C>A (p.Arg622=)
n.49C>A
c.1261C>A (p.Arg421=)
n.20C>A
c.1771C>A (p.Arg591=)
c.1432C>A (p.Arg478=)
c.1780C>A (p.Arg594=)
c.1888C>A (p.Arg630=)
c.1852C>A (p.Arg618=)
c.1810C>A (p.Arg604=)
c.1679+5014C>A (n.1679+5014C>A)
c.1906C>A (p.Arg636=)
c.1972C>A (p.Arg658=)
c.1969C>A (p.Arg657=)
c.1942C>A (p.Arg648=)
c.1861C>A (p.Arg621=)
c.1846C>A (p.Arg616=)
c.1453C>A (p.Arg485=)
c.1915C>A (p.Arg639=)
c.1849C>A (p.Arg617=)
c.1807C>A (p.Arg603=)
c.880C>A (p.Arg294=)
20g.63408437T>ACA511203541KCNQ2c.1917A>T (p.Gly639=)
c.1863A>T (p.Gly621=)
n.48A>T
c.1260A>T (p.Gly420=)
n.19A>T
c.1770A>T (p.Gly590=)
c.1431A>T (p.Gly477=)
c.1779A>T (p.Gly593=)
c.1887A>T (p.Gly629=)
c.1851A>T (p.Gly617=)
c.1809A>T (p.Gly603=)
c.1679+5013A>T (n.1679+5013A>T)
c.1905A>T (p.Gly635=)
c.1971A>T (p.Gly657=)
c.1968A>T (p.Gly656=)
c.1941A>T (p.Gly647=)
c.1860A>T (p.Gly620=)
c.1845A>T (p.Gly615=)
c.1452A>T (p.Gly484=)
c.1914A>T (p.Gly638=)
c.1848A>T (p.Gly616=)
c.1806A>T (p.Gly602=)
c.879A>T (p.Gly293=)
20g.63408437T>CCA511203542KCNQ2c.1917A>G (p.Gly639=)
c.1863A>G (p.Gly621=)
n.48A>G
c.1260A>G (p.Gly420=)
n.19A>G
c.1770A>G (p.Gly590=)
c.1431A>G (p.Gly477=)
c.1779A>G (p.Gly593=)
c.1887A>G (p.Gly629=)
c.1851A>G (p.Gly617=)
c.1809A>G (p.Gly603=)
c.1679+5013A>G (n.1679+5013A>G)
c.1905A>G (p.Gly635=)
c.1971A>G (p.Gly657=)
c.1968A>G (p.Gly656=)
c.1941A>G (p.Gly647=)
c.1860A>G (p.Gly620=)
c.1845A>G (p.Gly615=)
c.1452A>G (p.Gly484=)
c.1914A>G (p.Gly638=)
c.1848A>G (p.Gly616=)
c.1806A>G (p.Gly602=)
c.879A>G (p.Gly293=)
20g.63408437T>GCA511203543KCNQ2c.1917A>C (p.Gly639=)
c.1863A>C (p.Gly621=)
n.48A>C
c.1260A>C (p.Gly420=)
n.19A>C
c.1770A>C (p.Gly590=)
c.1431A>C (p.Gly477=)
c.1779A>C (p.Gly593=)
c.1887A>C (p.Gly629=)
c.1851A>C (p.Gly617=)
c.1809A>C (p.Gly603=)
c.1679+5013A>C (n.1679+5013A>C)
c.1905A>C (p.Gly635=)
c.1971A>C (p.Gly657=)
c.1968A>C (p.Gly656=)
c.1941A>C (p.Gly647=)
c.1860A>C (p.Gly620=)
c.1845A>C (p.Gly615=)
c.1452A>C (p.Gly484=)
c.1914A>C (p.Gly638=)
c.1848A>C (p.Gly616=)
c.1806A>C (p.Gly602=)
c.879A>C (p.Gly293=)
20g.63408438C>ACA409640245KCNQ2c.1916G>T (p.Gly639Val)
c.1862G>T (p.Gly621Val)
n.47G>T
c.1259G>T (p.Gly420Val)
n.18G>T
c.1769G>T (p.Gly590Val)
c.1430G>T (p.Gly477Val)
c.1778G>T (p.Gly593Val)
c.1886G>T (p.Gly629Val)
c.1850G>T (p.Gly617Val)
c.1808G>T (p.Gly603Val)
c.1679+5012G>T (n.1679+5012G>T)
c.1904G>T (p.Gly635Val)
c.1970G>T (p.Gly657Val)
c.1967G>T (p.Gly656Val)
c.1940G>T (p.Gly647Val)
c.1859G>T (p.Gly620Val)
c.1844G>T (p.Gly615Val)
c.1451G>T (p.Gly484Val)
c.1913G>T (p.Gly638Val)
c.1847G>T (p.Gly616Val)
c.1805G>T (p.Gly602Val)
c.878G>T (p.Gly293Val)
 ClinVar dbSNP
20g.63408438C>GCA409640246KCNQ2c.1916G>C (p.Gly639Ala)
c.1862G>C (p.Gly621Ala)
n.47G>C
c.1259G>C (p.Gly420Ala)
n.18G>C
c.1769G>C (p.Gly590Ala)
c.1430G>C (p.Gly477Ala)
c.1778G>C (p.Gly593Ala)
c.1886G>C (p.Gly629Ala)
c.1850G>C (p.Gly617Ala)
c.1808G>C (p.Gly603Ala)
c.1679+5012G>C (n.1679+5012G>C)
c.1904G>C (p.Gly635Ala)
c.1970G>C (p.Gly657Ala)
c.1967G>C (p.Gly656Ala)
c.1940G>C (p.Gly647Ala)
c.1859G>C (p.Gly620Ala)
c.1844G>C (p.Gly615Ala)
c.1451G>C (p.Gly484Ala)
c.1913G>C (p.Gly638Ala)
c.1847G>C (p.Gly616Ala)
c.1805G>C (p.Gly602Ala)
c.878G>C (p.Gly293Ala)
20g.63408438C>TCA409640247KCNQ2c.1916G>A (p.Gly639Glu)
c.1862G>A (p.Gly621Glu)
n.47G>A
c.1259G>A (p.Gly420Glu)
n.18G>A
c.1769G>A (p.Gly590Glu)
c.1430G>A (p.Gly477Glu)
c.1778G>A (p.Gly593Glu)
c.1886G>A (p.Gly629Glu)
c.1850G>A (p.Gly617Glu)
c.1808G>A (p.Gly603Glu)
c.1679+5012G>A (n.1679+5012G>A)
c.1904G>A (p.Gly635Glu)
c.1970G>A (p.Gly657Glu)
c.1967G>A (p.Gly656Glu)
c.1940G>A (p.Gly647Glu)
c.1859G>A (p.Gly620Glu)
c.1844G>A (p.Gly615Glu)
c.1451G>A (p.Gly484Glu)
c.1913G>A (p.Gly638Glu)
c.1847G>A (p.Gly616Glu)
c.1805G>A (p.Gly602Glu)
c.878G>A (p.Gly293Glu)
 COSMIC COSMIC COSMIC
20g.63408439C>ACA409640248KCNQ2c.1915G>T (p.Gly639Ter)
c.1861G>T (p.Gly621Ter)
n.46G>T
c.1258G>T (p.Gly420Ter)
n.17G>T
c.1768G>T (p.Gly590Ter)
c.1429G>T (p.Gly477Ter)
c.1777G>T (p.Gly593Ter)
c.1885G>T (p.Gly629Ter)
c.1849G>T (p.Gly617Ter)
c.1807G>T (p.Gly603Ter)
c.1679+5011G>T (n.1679+5011G>T)
c.1903G>T (p.Gly635Ter)
c.1969G>T (p.Gly657Ter)
c.1966G>T (p.Gly656Ter)
c.1939G>T (p.Gly647Ter)
c.1858G>T (p.Gly620Ter)
c.1843G>T (p.Gly615Ter)
c.1450G>T (p.Gly484Ter)
c.1912G>T (p.Gly638Ter)
c.1846G>T (p.Gly616Ter)
c.1804G>T (p.Gly602Ter)
c.877G>T (p.Gly293Ter)
 gnomAD v4
20g.63408439C>GCA409640249KCNQ2c.1915G>C (p.Gly639Arg)
c.1861G>C (p.Gly621Arg)
n.46G>C
c.1258G>C (p.Gly420Arg)
n.17G>C
c.1768G>C (p.Gly590Arg)
c.1429G>C (p.Gly477Arg)
c.1777G>C (p.Gly593Arg)
c.1885G>C (p.Gly629Arg)
c.1849G>C (p.Gly617Arg)
c.1807G>C (p.Gly603Arg)
c.1679+5011G>C (n.1679+5011G>C)
c.1903G>C (p.Gly635Arg)
c.1969G>C (p.Gly657Arg)
c.1966G>C (p.Gly656Arg)
c.1939G>C (p.Gly647Arg)
c.1858G>C (p.Gly620Arg)
c.1843G>C (p.Gly615Arg)
c.1450G>C (p.Gly484Arg)
c.1912G>C (p.Gly638Arg)
c.1846G>C (p.Gly616Arg)
c.1804G>C (p.Gly602Arg)
c.877G>C (p.Gly293Arg)
20g.63408439C>TCA409640250KCNQ2c.1915G>A (p.Gly639Arg)
c.1861G>A (p.Gly621Arg)
n.46G>A
c.1258G>A (p.Gly420Arg)
n.17G>A
c.1768G>A (p.Gly590Arg)
c.1429G>A (p.Gly477Arg)
c.1777G>A (p.Gly593Arg)
c.1885G>A (p.Gly629Arg)
c.1849G>A (p.Gly617Arg)
c.1807G>A (p.Gly603Arg)
c.1679+5011G>A (n.1679+5011G>A)
c.1903G>A (p.Gly635Arg)
c.1969G>A (p.Gly657Arg)
c.1966G>A (p.Gly656Arg)
c.1939G>A (p.Gly647Arg)
c.1858G>A (p.Gly620Arg)
c.1843G>A (p.Gly615Arg)
c.1450G>A (p.Gly484Arg)
c.1912G>A (p.Gly638Arg)
c.1846G>A (p.Gly616Arg)
c.1804G>A (p.Gly602Arg)
c.877G>A (p.Gly293Arg)
20g.63408440C>ACA317423658KCNQ2c.1914G>T (p.Met638Ile)
c.1860G>T (p.Met620Ile)
n.45G>T
c.1257G>T (p.Met419Ile)
n.16G>T
c.1767G>T (p.Met589Ile)
c.1428G>T (p.Met476Ile)
c.1776G>T (p.Met592Ile)
c.1884G>T (p.Met628Ile)
c.1848G>T (p.Met616Ile)
c.1806G>T (p.Met602Ile)
c.1679+5010G>T (n.1679+5010G>T)
c.1902G>T (p.Met634Ile)
c.1968G>T (p.Met656Ile)
c.1965G>T (p.Met655Ile)
c.1938G>T (p.Met646Ile)
c.1857G>T (p.Met619Ile)
c.1842G>T (p.Met614Ile)
c.1449G>T (p.Met483Ile)
c.1911G>T (p.Met637Ile)
c.1845G>T (p.Met615Ile)
c.1803G>T (p.Met601Ile)
c.876G>T (p.Met292Ile)
 dbSNP gnomAD v4
20g.63408440C=CA2374775202KCNQ2c.1914G= (p.Met638=)
c.1860G= (p.Met620=)
n.45G=
c.1257G= (p.Met419=)
n.16G=
c.1767G= (p.Met589=)
c.1428G= (p.Met476=)
c.1776G= (p.Met592=)
c.1884G= (p.Met628=)
c.1848G= (p.Met616=)
c.1806G= (p.Met602=)
c.1679+5010G= (n.1679+5010G=)
c.1902G= (p.Met634=)
c.1968G= (p.Met656=)
c.1965G= (p.Met655=)
c.1938G= (p.Met646=)
c.1857G= (p.Met619=)
c.1842G= (p.Met614=)
c.1449G= (p.Met483=)
c.1911G= (p.Met637=)
c.1845G= (p.Met615=)
c.1803G= (p.Met601=)
c.876G= (p.Met292=)
20g.63408440C>GCA409640251KCNQ2c.1914G>C (p.Met638Ile)
c.1860G>C (p.Met620Ile)
n.45G>C
c.1257G>C (p.Met419Ile)
n.16G>C
c.1767G>C (p.Met589Ile)
c.1428G>C (p.Met476Ile)
c.1776G>C (p.Met592Ile)
c.1884G>C (p.Met628Ile)
c.1848G>C (p.Met616Ile)
c.1806G>C (p.Met602Ile)
c.1679+5010G>C (n.1679+5010G>C)
c.1902G>C (p.Met634Ile)
c.1968G>C (p.Met656Ile)
c.1965G>C (p.Met655Ile)
c.1938G>C (p.Met646Ile)
c.1857G>C (p.Met619Ile)
c.1842G>C (p.Met614Ile)
c.1449G>C (p.Met483Ile)
c.1911G>C (p.Met637Ile)
c.1845G>C (p.Met615Ile)
c.1803G>C (p.Met601Ile)
c.876G>C (p.Met292Ile)
20g.63408440C>TCA409640252KCNQ2c.1914G>A (p.Met638Ile)
c.1860G>A (p.Met620Ile)
n.45G>A
c.1257G>A (p.Met419Ile)
n.16G>A
c.1767G>A (p.Met589Ile)
c.1428G>A (p.Met476Ile)
c.1776G>A (p.Met592Ile)
c.1884G>A (p.Met628Ile)
c.1848G>A (p.Met616Ile)
c.1806G>A (p.Met602Ile)
c.1679+5010G>A (n.1679+5010G>A)
c.1902G>A (p.Met634Ile)
c.1968G>A (p.Met656Ile)
c.1965G>A (p.Met655Ile)
c.1938G>A (p.Met646Ile)
c.1857G>A (p.Met619Ile)
c.1842G>A (p.Met614Ile)
c.1449G>A (p.Met483Ile)
c.1911G>A (p.Met637Ile)
c.1845G>A (p.Met615Ile)
c.1803G>A (p.Met601Ile)
c.876G>A (p.Met292Ile)
20g.63408441A>CCA409640255KCNQ2c.1913T>G (p.Met638Arg)
c.1859T>G (p.Met620Arg)
n.44T>G
c.1256T>G (p.Met419Arg)
n.15T>G
c.1766T>G (p.Met589Arg)
c.1427T>G (p.Met476Arg)
c.1775T>G (p.Met592Arg)
c.1883T>G (p.Met628Arg)
c.1847T>G (p.Met616Arg)
c.1805T>G (p.Met602Arg)
c.1679+5009T>G (n.1679+5009T>G)
c.1901T>G (p.Met634Arg)
c.1967T>G (p.Met656Arg)
c.1964T>G (p.Met655Arg)
c.1937T>G (p.Met646Arg)
c.1856T>G (p.Met619Arg)
c.1841T>G (p.Met614Arg)
c.1448T>G (p.Met483Arg)
c.1910T>G (p.Met637Arg)
c.1844T>G (p.Met615Arg)
c.1802T>G (p.Met601Arg)
c.875T>G (p.Met292Arg)
20g.63408441A>GCA409640254KCNQ2c.1913T>C (p.Met638Thr)
c.1859T>C (p.Met620Thr)
n.44T>C
c.1256T>C (p.Met419Thr)
n.15T>C
c.1766T>C (p.Met589Thr)
c.1427T>C (p.Met476Thr)
c.1775T>C (p.Met592Thr)
c.1883T>C (p.Met628Thr)
c.1847T>C (p.Met616Thr)
c.1805T>C (p.Met602Thr)
c.1679+5009T>C (n.1679+5009T>C)
c.1901T>C (p.Met634Thr)
c.1967T>C (p.Met656Thr)
c.1964T>C (p.Met655Thr)
c.1937T>C (p.Met646Thr)
c.1856T>C (p.Met619Thr)
c.1841T>C (p.Met614Thr)
c.1448T>C (p.Met483Thr)
c.1910T>C (p.Met637Thr)
c.1844T>C (p.Met615Thr)
c.1802T>C (p.Met601Thr)
c.875T>C (p.Met292Thr)
20g.63408441A>TCA409640253KCNQ2c.1913T>A (p.Met638Lys)
c.1859T>A (p.Met620Lys)
n.44T>A
c.1256T>A (p.Met419Lys)
n.15T>A
c.1766T>A (p.Met589Lys)
c.1427T>A (p.Met476Lys)
c.1775T>A (p.Met592Lys)
c.1883T>A (p.Met628Lys)
c.1847T>A (p.Met616Lys)
c.1805T>A (p.Met602Lys)
c.1679+5009T>A (n.1679+5009T>A)
c.1901T>A (p.Met634Lys)
c.1967T>A (p.Met656Lys)
c.1964T>A (p.Met655Lys)
c.1937T>A (p.Met646Lys)
c.1856T>A (p.Met619Lys)
c.1841T>A (p.Met614Lys)
c.1448T>A (p.Met483Lys)
c.1910T>A (p.Met637Lys)
c.1844T>A (p.Met615Lys)
c.1802T>A (p.Met601Lys)
c.875T>A (p.Met292Lys)
20g.63408442T>ACA409640256KCNQ2c.1912A>T (p.Met638Leu)
c.1858A>T (p.Met620Leu)
n.43A>T
c.1255A>T (p.Met419Leu)
n.14A>T
c.1765A>T (p.Met589Leu)
c.1426A>T (p.Met476Leu)
c.1774A>T (p.Met592Leu)
c.1882A>T (p.Met628Leu)
c.1846A>T (p.Met616Leu)
c.1804A>T (p.Met602Leu)
c.1679+5008A>T (n.1679+5008A>T)
c.1900A>T (p.Met634Leu)
c.1966A>T (p.Met656Leu)
c.1963A>T (p.Met655Leu)
c.1936A>T (p.Met646Leu)
c.1855A>T (p.Met619Leu)
c.1840A>T (p.Met614Leu)
c.1447A>T (p.Met483Leu)
c.1909A>T (p.Met637Leu)
c.1843A>T (p.Met615Leu)
c.1801A>T (p.Met601Leu)
c.874A>T (p.Met292Leu)
20g.63408442T>CCA409640258KCNQ2c.1912A>G (p.Met638Val)
c.1858A>G (p.Met620Val)
n.43A>G
c.1255A>G (p.Met419Val)
n.14A>G
c.1765A>G (p.Met589Val)
c.1426A>G (p.Met476Val)
c.1774A>G (p.Met592Val)
c.1882A>G (p.Met628Val)
c.1846A>G (p.Met616Val)
c.1804A>G (p.Met602Val)
c.1679+5008A>G (n.1679+5008A>G)
c.1900A>G (p.Met634Val)
c.1966A>G (p.Met656Val)
c.1963A>G (p.Met655Val)
c.1936A>G (p.Met646Val)
c.1855A>G (p.Met619Val)
c.1840A>G (p.Met614Val)
c.1447A>G (p.Met483Val)
c.1909A>G (p.Met637Val)
c.1843A>G (p.Met615Val)
c.1801A>G (p.Met601Val)
c.874A>G (p.Met292Val)
 gnomAD v4
20g.63408442T>GCA409640257KCNQ2c.1912A>C (p.Met638Leu)
c.1858A>C (p.Met620Leu)
n.43A>C
c.1255A>C (p.Met419Leu)
n.14A>C
c.1765A>C (p.Met589Leu)
c.1426A>C (p.Met476Leu)
c.1774A>C (p.Met592Leu)
c.1882A>C (p.Met628Leu)
c.1846A>C (p.Met616Leu)
c.1804A>C (p.Met602Leu)
c.1679+5008A>C (n.1679+5008A>C)
c.1900A>C (p.Met634Leu)
c.1966A>C (p.Met656Leu)
c.1963A>C (p.Met655Leu)
c.1936A>C (p.Met646Leu)
c.1855A>C (p.Met619Leu)
c.1840A>C (p.Met614Leu)
c.1447A>C (p.Met483Leu)
c.1909A>C (p.Met637Leu)
c.1843A>C (p.Met615Leu)
c.1801A>C (p.Met601Leu)
c.874A>C (p.Met292Leu)
20g.63408443C>ACA409640259KCNQ2c.1911G>T (p.Met637Ile)
c.1857G>T (p.Met619Ile)
n.42G>T
c.1254G>T (p.Met418Ile)
n.13G>T
c.1764G>T (p.Met588Ile)
c.1425G>T (p.Met475Ile)
c.1773G>T (p.Met591Ile)
c.1881G>T (p.Met627Ile)
c.1845G>T (p.Met615Ile)
c.1803G>T (p.Met601Ile)
c.1679+5007G>T (n.1679+5007G>T)
c.1899G>T (p.Met633Ile)
c.1965G>T (p.Met655Ile)
c.1962G>T (p.Met654Ile)
c.1935G>T (p.Met645Ile)
c.1854G>T (p.Met618Ile)
c.1839G>T (p.Met613Ile)
c.1446G>T (p.Met482Ile)
c.1908G>T (p.Met636Ile)
c.1842G>T (p.Met614Ile)
c.1800G>T (p.Met600Ile)
c.873G>T (p.Met291Ile)
 gnomAD v4
20g.63408443C=CA2374775203KCNQ2c.1911G= (p.Met637=)
c.1857G= (p.Met619=)
n.42G=
c.1254G= (p.Met418=)
n.13G=
c.1764G= (p.Met588=)
c.1425G= (p.Met475=)
c.1773G= (p.Met591=)
c.1881G= (p.Met627=)
c.1845G= (p.Met615=)
c.1803G= (p.Met601=)
c.1679+5007G= (n.1679+5007G=)
c.1899G= (p.Met633=)
c.1965G= (p.Met655=)
c.1962G= (p.Met654=)
c.1935G= (p.Met645=)
c.1854G= (p.Met618=)
c.1839G= (p.Met613=)
c.1446G= (p.Met482=)
c.1908G= (p.Met636=)
c.1842G= (p.Met614=)
c.1800G= (p.Met600=)
c.873G= (p.Met291=)
20g.63408443C>GCA409640260KCNQ2c.1911G>C (p.Met637Ile)
c.1857G>C (p.Met619Ile)
n.42G>C
c.1254G>C (p.Met418Ile)
n.13G>C
c.1764G>C (p.Met588Ile)
c.1425G>C (p.Met475Ile)
c.1773G>C (p.Met591Ile)
c.1881G>C (p.Met627Ile)
c.1845G>C (p.Met615Ile)
c.1803G>C (p.Met601Ile)
c.1679+5007G>C (n.1679+5007G>C)
c.1899G>C (p.Met633Ile)
c.1965G>C (p.Met655Ile)
c.1962G>C (p.Met654Ile)
c.1935G>C (p.Met645Ile)
c.1854G>C (p.Met618Ile)
c.1839G>C (p.Met613Ile)
c.1446G>C (p.Met482Ile)
c.1908G>C (p.Met636Ile)
c.1842G>C (p.Met614Ile)
c.1800G>C (p.Met600Ile)
c.873G>C (p.Met291Ile)
20g.63408443C>TCA317423663KCNQ2c.1911G>A (p.Met637Ile)
c.1857G>A (p.Met619Ile)
n.42G>A
c.1254G>A (p.Met418Ile)
n.13G>A
c.1764G>A (p.Met588Ile)
c.1425G>A (p.Met475Ile)
c.1773G>A (p.Met591Ile)
c.1881G>A (p.Met627Ile)
c.1845G>A (p.Met615Ile)
c.1803G>A (p.Met601Ile)
c.1679+5007G>A (n.1679+5007G>A)
c.1899G>A (p.Met633Ile)
c.1965G>A (p.Met655Ile)
c.1962G>A (p.Met654Ile)
c.1935G>A (p.Met645Ile)
c.1854G>A (p.Met618Ile)
c.1839G>A (p.Met613Ile)
c.1446G>A (p.Met482Ile)
c.1908G>A (p.Met636Ile)
c.1842G>A (p.Met614Ile)
c.1800G>A (p.Met600Ile)
c.873G>A (p.Met291Ile)
 dbSNP
20g.63408444A>CCA409640261KCNQ2c.1910T>G (p.Met637Arg)
c.1856T>G (p.Met619Arg)
n.41T>G
c.1253T>G (p.Met418Arg)
n.12T>G
c.1763T>G (p.Met588Arg)
c.1424T>G (p.Met475Arg)
c.1772T>G (p.Met591Arg)
c.1880T>G (p.Met627Arg)
c.1844T>G (p.Met615Arg)
c.1802T>G (p.Met601Arg)
c.1679+5006T>G (n.1679+5006T>G)
c.1898T>G (p.Met633Arg)
c.1964T>G (p.Met655Arg)
c.1961T>G (p.Met654Arg)
c.1934T>G (p.Met645Arg)
c.1853T>G (p.Met618Arg)
c.1838T>G (p.Met613Arg)
c.1445T>G (p.Met482Arg)
c.1907T>G (p.Met636Arg)
c.1841T>G (p.Met614Arg)
c.1799T>G (p.Met600Arg)
c.872T>G (p.Met291Arg)
 gnomAD v4
20g.63408444A>GCA409640263KCNQ2c.1910T>C (p.Met637Thr)
c.1856T>C (p.Met619Thr)
n.41T>C
c.1253T>C (p.Met418Thr)
n.12T>C
c.1763T>C (p.Met588Thr)
c.1424T>C (p.Met475Thr)
c.1772T>C (p.Met591Thr)
c.1880T>C (p.Met627Thr)
c.1844T>C (p.Met615Thr)
c.1802T>C (p.Met601Thr)
c.1679+5006T>C (n.1679+5006T>C)
c.1898T>C (p.Met633Thr)
c.1964T>C (p.Met655Thr)
c.1961T>C (p.Met654Thr)
c.1934T>C (p.Met645Thr)
c.1853T>C (p.Met618Thr)
c.1838T>C (p.Met613Thr)
c.1445T>C (p.Met482Thr)
c.1907T>C (p.Met636Thr)
c.1841T>C (p.Met614Thr)
c.1799T>C (p.Met600Thr)
c.872T>C (p.Met291Thr)
20g.63408444A>TCA409640262KCNQ2c.1910T>A (p.Met637Lys)
c.1856T>A (p.Met619Lys)
n.41T>A
c.1253T>A (p.Met418Lys)
n.12T>A
c.1763T>A (p.Met588Lys)
c.1424T>A (p.Met475Lys)
c.1772T>A (p.Met591Lys)
c.1880T>A (p.Met627Lys)
c.1844T>A (p.Met615Lys)
c.1802T>A (p.Met601Lys)
c.1679+5006T>A (n.1679+5006T>A)
c.1898T>A (p.Met633Lys)
c.1964T>A (p.Met655Lys)
c.1961T>A (p.Met654Lys)
c.1934T>A (p.Met645Lys)
c.1853T>A (p.Met618Lys)
c.1838T>A (p.Met613Lys)
c.1445T>A (p.Met482Lys)
c.1907T>A (p.Met636Lys)
c.1841T>A (p.Met614Lys)
c.1799T>A (p.Met600Lys)
c.872T>A (p.Met291Lys)
20g.63408445T>ACA409640264KCNQ2c.1909A>T (p.Met637Leu)
c.1855A>T (p.Met619Leu)
n.40A>T
c.1252A>T (p.Met418Leu)
n.11A>T
c.1762A>T (p.Met588Leu)
c.1423A>T (p.Met475Leu)
c.1771A>T (p.Met591Leu)
c.1879A>T (p.Met627Leu)
c.1843A>T (p.Met615Leu)
c.1801A>T (p.Met601Leu)
c.1679+5005A>T (n.1679+5005A>T)
c.1897A>T (p.Met633Leu)
c.1963A>T (p.Met655Leu)
c.1960A>T (p.Met654Leu)
c.1933A>T (p.Met645Leu)
c.1852A>T (p.Met618Leu)
c.1837A>T (p.Met613Leu)
c.1444A>T (p.Met482Leu)
c.1906A>T (p.Met636Leu)
c.1840A>T (p.Met614Leu)
c.1798A>T (p.Met600Leu)
c.871A>T (p.Met291Leu)
20g.63408445T>CCA409640265KCNQ2c.1909A>G (p.Met637Val)
c.1855A>G (p.Met619Val)
n.40A>G
c.1252A>G (p.Met418Val)
n.11A>G
c.1762A>G (p.Met588Val)
c.1423A>G (p.Met475Val)
c.1771A>G (p.Met591Val)
c.1879A>G (p.Met627Val)
c.1843A>G (p.Met615Val)
c.1801A>G (p.Met601Val)
c.1679+5005A>G (n.1679+5005A>G)
c.1897A>G (p.Met633Val)
c.1963A>G (p.Met655Val)
c.1960A>G (p.Met654Val)
c.1933A>G (p.Met645Val)
c.1852A>G (p.Met618Val)
c.1837A>G (p.Met613Val)
c.1444A>G (p.Met482Val)
c.1906A>G (p.Met636Val)
c.1840A>G (p.Met614Val)
c.1798A>G (p.Met600Val)
c.871A>G (p.Met291Val)
 gnomAD v4
20g.63408445T>GCA409640266KCNQ2c.1909A>C (p.Met637Leu)
c.1855A>C (p.Met619Leu)
n.40A>C
c.1252A>C (p.Met418Leu)
n.11A>C
c.1762A>C (p.Met588Leu)
c.1423A>C (p.Met475Leu)
c.1771A>C (p.Met591Leu)
c.1879A>C (p.Met627Leu)
c.1843A>C (p.Met615Leu)
c.1801A>C (p.Met601Leu)
c.1679+5005A>C (n.1679+5005A>C)
c.1897A>C (p.Met633Leu)
c.1963A>C (p.Met655Leu)
c.1960A>C (p.Met654Leu)
c.1933A>C (p.Met645Leu)
c.1852A>C (p.Met618Leu)
c.1837A>C (p.Met613Leu)
c.1444A>C (p.Met482Leu)
c.1906A>C (p.Met636Leu)
c.1840A>C (p.Met614Leu)
c.1798A>C (p.Met600Leu)
c.871A>C (p.Met291Leu)
 dbSNP
20g.63408445T=CA2374775204KCNQ2c.1909A= (p.Met637=)
c.1855A= (p.Met619=)
n.40A=
c.1252A= (p.Met418=)
n.11A=
c.1762A= (p.Met588=)
c.1423A= (p.Met475=)
c.1771A= (p.Met591=)
c.1879A= (p.Met627=)
c.1843A= (p.Met615=)
c.1801A= (p.Met601=)
c.1679+5005A= (n.1679+5005A=)
c.1897A= (p.Met633=)
c.1963A= (p.Met655=)
c.1960A= (p.Met654=)
c.1933A= (p.Met645=)
c.1852A= (p.Met618=)
c.1837A= (p.Met613=)
c.1444A= (p.Met482=)
c.1906A= (p.Met636=)
c.1840A= (p.Met614=)
c.1798A= (p.Met600=)
c.871A= (p.Met291=)
20g.63408446G>ACA511203544KCNQ2c.1908C>T (p.Ser636=)
c.1854C>T (p.Ser618=)
n.39C>T
c.1251C>T (p.Ser417=)
n.10C>T
c.1761C>T (p.Ser587=)
c.1422C>T (p.Ser474=)
c.1770C>T (p.Ser590=)
c.1878C>T (p.Ser626=)
c.1842C>T (p.Ser614=)
c.1800C>T (p.Ser600=)
c.1679+5004C>T (n.1679+5004C>T)
c.1896C>T (p.Ser632=)
c.1962C>T (p.Ser654=)
c.1959C>T (p.Ser653=)
c.1932C>T (p.Ser644=)
c.1851C>T (p.Ser617=)
c.1836C>T (p.Ser612=)
c.1443C>T (p.Ser481=)
c.1905C>T (p.Ser635=)
c.1839C>T (p.Ser613=)
c.1797C>T (p.Ser599=)
c.870C>T (p.Ser290=)
20g.63408446G>CCA409640267KCNQ2c.1908C>G (p.Ser636Arg)
c.1854C>G (p.Ser618Arg)
n.39C>G
c.1251C>G (p.Ser417Arg)
n.10C>G
c.1761C>G (p.Ser587Arg)
c.1422C>G (p.Ser474Arg)
c.1770C>G (p.Ser590Arg)
c.1878C>G (p.Ser626Arg)
c.1842C>G (p.Ser614Arg)
c.1800C>G (p.Ser600Arg)
c.1679+5004C>G (n.1679+5004C>G)
c.1896C>G (p.Ser632Arg)
c.1962C>G (p.Ser654Arg)
c.1959C>G (p.Ser653Arg)
c.1932C>G (p.Ser644Arg)
c.1851C>G (p.Ser617Arg)
c.1836C>G (p.Ser612Arg)
c.1443C>G (p.Ser481Arg)
c.1905C>G (p.Ser635Arg)
c.1839C>G (p.Ser613Arg)
c.1797C>G (p.Ser599Arg)
c.870C>G (p.Ser290Arg)
20g.63408446G>TCA409640268KCNQ2c.1908C>A (p.Ser636Arg)
c.1854C>A (p.Ser618Arg)
n.39C>A
c.1251C>A (p.Ser417Arg)
n.10C>A
c.1761C>A (p.Ser587Arg)
c.1422C>A (p.Ser474Arg)
c.1770C>A (p.Ser590Arg)
c.1878C>A (p.Ser626Arg)
c.1842C>A (p.Ser614Arg)
c.1800C>A (p.Ser600Arg)
c.1679+5004C>A (n.1679+5004C>A)
c.1896C>A (p.Ser632Arg)
c.1962C>A (p.Ser654Arg)
c.1959C>A (p.Ser653Arg)
c.1932C>A (p.Ser644Arg)
c.1851C>A (p.Ser617Arg)
c.1836C>A (p.Ser612Arg)
c.1443C>A (p.Ser481Arg)
c.1905C>A (p.Ser635Arg)
c.1839C>A (p.Ser613Arg)
c.1797C>A (p.Ser599Arg)
c.870C>A (p.Ser290Arg)
20g.63408447C>ACA409640269KCNQ2c.1907G>T (p.Ser636Ile)
c.1853G>T (p.Ser618Ile)
n.38G>T
c.1250G>T (p.Ser417Ile)
n.9G>T
c.1760G>T (p.Ser587Ile)
c.1421G>T (p.Ser474Ile)
c.1769G>T (p.Ser590Ile)
c.1877G>T (p.Ser626Ile)
c.1841G>T (p.Ser614Ile)
c.1799G>T (p.Ser600Ile)
c.1679+5003G>T (n.1679+5003G>T)
c.1895G>T (p.Ser632Ile)
c.1961G>T (p.Ser654Ile)
c.1958G>T (p.Ser653Ile)
c.1931G>T (p.Ser644Ile)
c.1850G>T (p.Ser617Ile)
c.1835G>T (p.Ser612Ile)
c.1442G>T (p.Ser481Ile)
c.1904G>T (p.Ser635Ile)
c.1838G>T (p.Ser613Ile)
c.1796G>T (p.Ser599Ile)
c.869G>T (p.Ser290Ile)
20g.63408447C>GCA409640270KCNQ2c.1907G>C (p.Ser636Thr)
c.1853G>C (p.Ser618Thr)
n.38G>C
c.1250G>C (p.Ser417Thr)
n.9G>C
c.1760G>C (p.Ser587Thr)
c.1421G>C (p.Ser474Thr)
c.1769G>C (p.Ser590Thr)
c.1877G>C (p.Ser626Thr)
c.1841G>C (p.Ser614Thr)
c.1799G>C (p.Ser600Thr)
c.1679+5003G>C (n.1679+5003G>C)
c.1895G>C (p.Ser632Thr)
c.1961G>C (p.Ser654Thr)
c.1958G>C (p.Ser653Thr)
c.1931G>C (p.Ser644Thr)
c.1850G>C (p.Ser617Thr)
c.1835G>C (p.Ser612Thr)
c.1442G>C (p.Ser481Thr)
c.1904G>C (p.Ser635Thr)
c.1838G>C (p.Ser613Thr)
c.1796G>C (p.Ser599Thr)
c.869G>C (p.Ser290Thr)
20g.63408447C>TCA409640271KCNQ2c.1907G>A (p.Ser636Asn)
c.1853G>A (p.Ser618Asn)
n.38G>A
c.1250G>A (p.Ser417Asn)
n.9G>A
c.1760G>A (p.Ser587Asn)
c.1421G>A (p.Ser474Asn)
c.1769G>A (p.Ser590Asn)
c.1877G>A (p.Ser626Asn)
c.1841G>A (p.Ser614Asn)
c.1799G>A (p.Ser600Asn)
c.1679+5003G>A (n.1679+5003G>A)
c.1895G>A (p.Ser632Asn)
c.1961G>A (p.Ser654Asn)
c.1958G>A (p.Ser653Asn)
c.1931G>A (p.Ser644Asn)
c.1850G>A (p.Ser617Asn)
c.1835G>A (p.Ser612Asn)
c.1442G>A (p.Ser481Asn)
c.1904G>A (p.Ser635Asn)
c.1838G>A (p.Ser613Asn)
c.1796G>A (p.Ser599Asn)
c.869G>A (p.Ser290Asn)
20g.63408448T>ACA409640272KCNQ2c.1906A>T (p.Ser636Cys)
c.1852A>T (p.Ser618Cys)
n.37A>T
c.1249A>T (p.Ser417Cys)
n.8A>T
c.1759A>T (p.Ser587Cys)
c.1420A>T (p.Ser474Cys)
c.1768A>T (p.Ser590Cys)
c.1876A>T (p.Ser626Cys)
c.1840A>T (p.Ser614Cys)
c.1798A>T (p.Ser600Cys)
c.1679+5002A>T (n.1679+5002A>T)
c.1894A>T (p.Ser632Cys)
c.1960A>T (p.Ser654Cys)
c.1957A>T (p.Ser653Cys)
c.1930A>T (p.Ser644Cys)
c.1849A>T (p.Ser617Cys)
c.1834A>T (p.Ser612Cys)
c.1441A>T (p.Ser481Cys)
c.1903A>T (p.Ser635Cys)
c.1837A>T (p.Ser613Cys)
c.1795A>T (p.Ser599Cys)
c.868A>T (p.Ser290Cys)
20g.63408448T>CCA409640273KCNQ2c.1906A>G (p.Ser636Gly)
c.1852A>G (p.Ser618Gly)
n.37A>G
c.1249A>G (p.Ser417Gly)
n.8A>G
c.1759A>G (p.Ser587Gly)
c.1420A>G (p.Ser474Gly)
c.1768A>G (p.Ser590Gly)
c.1876A>G (p.Ser626Gly)
c.1840A>G (p.Ser614Gly)
c.1798A>G (p.Ser600Gly)
c.1679+5002A>G (n.1679+5002A>G)
c.1894A>G (p.Ser632Gly)
c.1960A>G (p.Ser654Gly)
c.1957A>G (p.Ser653Gly)
c.1930A>G (p.Ser644Gly)
c.1849A>G (p.Ser617Gly)
c.1834A>G (p.Ser612Gly)
c.1441A>G (p.Ser481Gly)
c.1903A>G (p.Ser635Gly)
c.1837A>G (p.Ser613Gly)
c.1795A>G (p.Ser599Gly)
c.868A>G (p.Ser290Gly)
20g.63408448T>GCA409640274KCNQ2c.1906A>C (p.Ser636Arg)
c.1852A>C (p.Ser618Arg)
n.37A>C
c.1249A>C (p.Ser417Arg)
n.8A>C
c.1759A>C (p.Ser587Arg)
c.1420A>C (p.Ser474Arg)
c.1768A>C (p.Ser590Arg)
c.1876A>C (p.Ser626Arg)
c.1840A>C (p.Ser614Arg)
c.1798A>C (p.Ser600Arg)
c.1679+5002A>C (n.1679+5002A>C)
c.1894A>C (p.Ser632Arg)
c.1960A>C (p.Ser654Arg)
c.1957A>C (p.Ser653Arg)
c.1930A>C (p.Ser644Arg)
c.1849A>C (p.Ser617Arg)
c.1834A>C (p.Ser612Arg)
c.1441A>C (p.Ser481Arg)
c.1903A>C (p.Ser635Arg)
c.1837A>C (p.Ser613Arg)
c.1795A>C (p.Ser599Arg)
c.868A>C (p.Ser290Arg)
20g.63408448_63408449delinsTGCA2374775205KCNQ2c.1905_1906delinsCA (p.Pro635=)
c.1851_1852delinsCA (p.Pro617=)
n.36_37delinsCA
c.1248_1249delinsCA (p.Pro416=)
n.7_8delinsCA
c.1758_1759delinsCA (p.Pro586=)
c.1419_1420delinsCA (p.Pro473=)
c.1767_1768delinsCA (p.Pro589=)
c.1875_1876delinsCA (p.Pro625=)
c.1839_1840delinsCA (p.Pro613=)
c.1797_1798delinsCA (p.Pro599=)
c.1679+5001_1679+5002delinsCA (n.1679+5001_1679+5002delinsCA)
c.1893_1894delinsCA (p.Pro631=)
c.1959_1960delinsCA (p.Pro653=)
c.1956_1957delinsCA (p.Pro652=)
c.1929_1930delinsCA (p.Pro643=)
c.1848_1849delinsCA (p.Pro616=)
c.1833_1834delinsCA (p.Pro611=)
c.1440_1441delinsCA (p.Pro480=)
c.1902_1903delinsCA (p.Pro634=)
c.1836_1837delinsCA (p.Pro612=)
c.1794_1795delinsCA (p.Pro598=)
c.867_868delinsCA (p.Pro289=)
20g.63408449G>ACA511203545KCNQ2c.1905C>T (p.Pro635=)
c.1851C>T (p.Pro617=)
n.36C>T
c.1248C>T (p.Pro416=)
n.7C>T
c.1758C>T (p.Pro586=)
c.1419C>T (p.Pro473=)
c.1767C>T (p.Pro589=)
c.1875C>T (p.Pro625=)
c.1839C>T (p.Pro613=)
c.1797C>T (p.Pro599=)
c.1679+5001C>T (n.1679+5001C>T)
c.1893C>T (p.Pro631=)
c.1959C>T (p.Pro653=)
c.1956C>T (p.Pro652=)
c.1929C>T (p.Pro643=)
c.1848C>T (p.Pro616=)
c.1833C>T (p.Pro611=)
c.1440C>T (p.Pro480=)
c.1902C>T (p.Pro634=)
c.1836C>T (p.Pro612=)
c.1794C>T (p.Pro598=)
c.867C>T (p.Pro289=)
 gnomAD v4
20g.63408449G>CCA511203546KCNQ2c.1905C>G (p.Pro635=)
c.1851C>G (p.Pro617=)
n.36C>G
c.1248C>G (p.Pro416=)
n.7C>G
c.1758C>G (p.Pro586=)
c.1419C>G (p.Pro473=)
c.1767C>G (p.Pro589=)
c.1875C>G (p.Pro625=)
c.1839C>G (p.Pro613=)
c.1797C>G (p.Pro599=)
c.1679+5001C>G (n.1679+5001C>G)
c.1893C>G (p.Pro631=)
c.1959C>G (p.Pro653=)
c.1956C>G (p.Pro652=)
c.1929C>G (p.Pro643=)
c.1848C>G (p.Pro616=)
c.1833C>G (p.Pro611=)
c.1440C>G (p.Pro480=)
c.1902C>G (p.Pro634=)
c.1836C>G (p.Pro612=)
c.1794C>G (p.Pro598=)
c.867C>G (p.Pro289=)
20g.63408449G>TCA511203547KCNQ2c.1905C>A (p.Pro635=)
c.1851C>A (p.Pro617=)
n.36C>A
c.1248C>A (p.Pro416=)
n.7C>A
c.1758C>A (p.Pro586=)
c.1419C>A (p.Pro473=)
c.1767C>A (p.Pro589=)
c.1875C>A (p.Pro625=)
c.1839C>A (p.Pro613=)
c.1797C>A (p.Pro599=)
c.1679+5001C>A (n.1679+5001C>A)
c.1893C>A (p.Pro631=)
c.1959C>A (p.Pro653=)
c.1956C>A (p.Pro652=)
c.1929C>A (p.Pro643=)
c.1848C>A (p.Pro616=)
c.1833C>A (p.Pro611=)
c.1440C>A (p.Pro480=)
c.1902C>A (p.Pro634=)
c.1836C>A (p.Pro612=)
c.1794C>A (p.Pro598=)
c.867C>A (p.Pro289=)
 gnomAD v4
20g.63408452delCA915952962KCNQ2c.1905del (p.Ser636AlafsTer2)
c.1851del (p.Ser618AlafsTer2)
n.36del
c.1248del (p.Ser417AlafsTer2)
n.7del
c.1758del (p.Ser587AlafsTer2)
c.1419del (p.Ser474AlafsTer2)
c.1767del (p.Ser590AlafsTer2)
c.1875del (p.Ser626AlafsTer2)
c.1839del (p.Ser614AlafsTer2)
c.1797del (p.Ser600AlafsTer2)
c.1679+5001del (n.1679+5001del)
c.1893del (p.Ser632AlafsTer2)
c.1959del (p.Ser654AlafsTer2)
c.1956del (p.Ser653AlafsTer2)
c.1929del (p.Ser644AlafsTer2)
c.1848del (p.Ser617AlafsTer2)
c.1833del (p.Ser612AlafsTer2)
c.1440del (p.Ser481AlafsTer2)
c.1902del (p.Ser635AlafsTer2)
c.1836del (p.Ser613AlafsTer2)
c.1794del (p.Ser599AlafsTer2)
c.867del (p.Ser290AlafsTer2)
 ClinVar dbSNP gnomAD v4
20g.63408450G>ACA409640277KCNQ2c.1904C>T (p.Pro635Leu)
c.1850C>T (p.Pro617Leu)
n.35C>T
c.1247C>T (p.Pro416Leu)
n.6C>T
c.1757C>T (p.Pro586Leu)
c.1418C>T (p.Pro473Leu)
c.1766C>T (p.Pro589Leu)
c.1874C>T (p.Pro625Leu)
c.1838C>T (p.Pro613Leu)
c.1796C>T (p.Pro599Leu)
c.1679+5000C>T (n.1679+5000C>T)
c.1892C>T (p.Pro631Leu)
c.1958C>T (p.Pro653Leu)
c.1955C>T (p.Pro652Leu)
c.1928C>T (p.Pro643Leu)
c.1847C>T (p.Pro616Leu)
c.1832C>T (p.Pro611Leu)
c.1439C>T (p.Pro480Leu)
c.1901C>T (p.Pro634Leu)
c.1835C>T (p.Pro612Leu)
c.1793C>T (p.Pro598Leu)
c.866C>T (p.Pro289Leu)
 gnomAD v4
20g.63408450G>CCA409640275KCNQ2c.1904C>G (p.Pro635Arg)
c.1850C>G (p.Pro617Arg)
n.35C>G
c.1247C>G (p.Pro416Arg)
n.6C>G
c.1757C>G (p.Pro586Arg)
c.1418C>G (p.Pro473Arg)
c.1766C>G (p.Pro589Arg)
c.1874C>G (p.Pro625Arg)
c.1838C>G (p.Pro613Arg)
c.1796C>G (p.Pro599Arg)
c.1679+5000C>G (n.1679+5000C>G)
c.1892C>G (p.Pro631Arg)
c.1958C>G (p.Pro653Arg)
c.1955C>G (p.Pro652Arg)
c.1928C>G (p.Pro643Arg)
c.1847C>G (p.Pro616Arg)
c.1832C>G (p.Pro611Arg)
c.1439C>G (p.Pro480Arg)
c.1901C>G (p.Pro634Arg)
c.1835C>G (p.Pro612Arg)
c.1793C>G (p.Pro598Arg)
c.866C>G (p.Pro289Arg)
20g.63408450G>TCA409640276KCNQ2c.1904C>A (p.Pro635His)
c.1850C>A (p.Pro617His)
n.35C>A
c.1247C>A (p.Pro416His)
n.6C>A
c.1757C>A (p.Pro586His)
c.1418C>A (p.Pro473His)
c.1766C>A (p.Pro589His)
c.1874C>A (p.Pro625His)
c.1838C>A (p.Pro613His)
c.1796C>A (p.Pro599His)
c.1679+5000C>A (n.1679+5000C>A)
c.1892C>A (p.Pro631His)
c.1958C>A (p.Pro653His)
c.1955C>A (p.Pro652His)
c.1928C>A (p.Pro643His)
c.1847C>A (p.Pro616His)
c.1832C>A (p.Pro611His)
c.1439C>A (p.Pro480His)
c.1901C>A (p.Pro634His)
c.1835C>A (p.Pro612His)
c.1793C>A (p.Pro598His)
c.866C>A (p.Pro289His)
 gnomAD v4
20g.63408451G>ACA9958234KCNQ2c.1903C>T (p.Pro635Ser)
c.1849C>T (p.Pro617Ser)
n.34C>T
c.1246C>T (p.Pro416Ser)
n.5C>T
c.1756C>T (p.Pro586Ser)
c.1417C>T (p.Pro473Ser)
c.1765C>T (p.Pro589Ser)
c.1873C>T (p.Pro625Ser)
c.1837C>T (p.Pro613Ser)
c.1795C>T (p.Pro599Ser)
c.1679+4999C>T (n.1679+4999C>T)
c.1891C>T (p.Pro631Ser)
c.1957C>T (p.Pro653Ser)
c.1954C>T (p.Pro652Ser)
c.1927C>T (p.Pro643Ser)
c.1846C>T (p.Pro616Ser)
c.1831C>T (p.Pro611Ser)
c.1438C>T (p.Pro480Ser)
c.1900C>T (p.Pro634Ser)
c.1834C>T (p.Pro612Ser)
c.1792C>T (p.Pro598Ser)
c.865C>T (p.Pro289Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63408451G>CCA409640278KCNQ2c.1903C>G (p.Pro635Ala)
c.1849C>G (p.Pro617Ala)
n.34C>G
c.1246C>G (p.Pro416Ala)
n.5C>G
c.1756C>G (p.Pro586Ala)
c.1417C>G (p.Pro473Ala)
c.1765C>G (p.Pro589Ala)
c.1873C>G (p.Pro625Ala)
c.1837C>G (p.Pro613Ala)
c.1795C>G (p.Pro599Ala)
c.1679+4999C>G (n.1679+4999C>G)
c.1891C>G (p.Pro631Ala)
c.1957C>G (p.Pro653Ala)
c.1954C>G (p.Pro652Ala)
c.1927C>G (p.Pro643Ala)
c.1846C>G (p.Pro616Ala)
c.1831C>G (p.Pro611Ala)
c.1438C>G (p.Pro480Ala)
c.1900C>G (p.Pro634Ala)
c.1834C>G (p.Pro612Ala)
c.1792C>G (p.Pro598Ala)
c.865C>G (p.Pro289Ala)
20g.63408451G=CA2374775206KCNQ2c.1903C= (p.Pro635=)
c.1849C= (p.Pro617=)
n.34C=
c.1246C= (p.Pro416=)
n.5C=
c.1756C= (p.Pro586=)
c.1417C= (p.Pro473=)
c.1765C= (p.Pro589=)
c.1873C= (p.Pro625=)
c.1837C= (p.Pro613=)
c.1795C= (p.Pro599=)
c.1679+4999C= (n.1679+4999C=)
c.1891C= (p.Pro631=)
c.1957C= (p.Pro653=)
c.1954C= (p.Pro652=)
c.1927C= (p.Pro643=)
c.1846C= (p.Pro616=)
c.1831C= (p.Pro611=)
c.1438C= (p.Pro480=)
c.1900C= (p.Pro634=)
c.1834C= (p.Pro612=)
c.1792C= (p.Pro598=)
c.865C= (p.Pro289=)
20g.63408451G>TCA409640279KCNQ2c.1903C>A (p.Pro635Thr)
c.1849C>A (p.Pro617Thr)
n.34C>A
c.1246C>A (p.Pro416Thr)
n.5C>A
c.1756C>A (p.Pro586Thr)
c.1417C>A (p.Pro473Thr)
c.1765C>A (p.Pro589Thr)
c.1873C>A (p.Pro625Thr)
c.1837C>A (p.Pro613Thr)
c.1795C>A (p.Pro599Thr)
c.1679+4999C>A (n.1679+4999C>A)
c.1891C>A (p.Pro631Thr)
c.1957C>A (p.Pro653Thr)
c.1954C>A (p.Pro652Thr)
c.1927C>A (p.Pro643Thr)
c.1846C>A (p.Pro616Thr)
c.1831C>A (p.Pro611Thr)
c.1438C>A (p.Pro480Thr)
c.1900C>A (p.Pro634Thr)
c.1834C>A (p.Pro612Thr)
c.1792C>A (p.Pro598Thr)
c.865C>A (p.Pro289Thr)
 gnomAD v4
20g.63408452G>ACA511203548KCNQ2c.1902C>T (p.Asp634=)
c.1848C>T (p.Asp616=)
n.33C>T
c.1245C>T (p.Asp415=)
n.4C>T
c.1755C>T (p.Asp585=)
c.1416C>T (p.Asp472=)
c.1764C>T (p.Asp588=)
c.1872C>T (p.Asp624=)
c.1836C>T (p.Asp612=)
c.1794C>T (p.Asp598=)
c.1679+4998C>T (n.1679+4998C>T)
c.1890C>T (p.Asp630=)
c.1956C>T (p.Asp652=)
c.1953C>T (p.Asp651=)
c.1926C>T (p.Asp642=)
c.1845C>T (p.Asp615=)
c.1830C>T (p.Asp610=)
c.1437C>T (p.Asp479=)
c.1899C>T (p.Asp633=)
c.1833C>T (p.Asp611=)
c.1791C>T (p.Asp597=)
c.864C>T (p.Asp288=)
 ClinVar
20g.63408452G>CCA409640280KCNQ2c.1902C>G (p.Asp634Glu)
c.1848C>G (p.Asp616Glu)
n.33C>G
c.1245C>G (p.Asp415Glu)
n.4C>G
c.1755C>G (p.Asp585Glu)
c.1416C>G (p.Asp472Glu)
c.1764C>G (p.Asp588Glu)
c.1872C>G (p.Asp624Glu)
c.1836C>G (p.Asp612Glu)
c.1794C>G (p.Asp598Glu)
c.1679+4998C>G (n.1679+4998C>G)
c.1890C>G (p.Asp630Glu)
c.1956C>G (p.Asp652Glu)
c.1953C>G (p.Asp651Glu)
c.1926C>G (p.Asp642Glu)
c.1845C>G (p.Asp615Glu)
c.1830C>G (p.Asp610Glu)
c.1437C>G (p.Asp479Glu)
c.1899C>G (p.Asp633Glu)
c.1833C>G (p.Asp611Glu)
c.1791C>G (p.Asp597Glu)
c.864C>G (p.Asp288Glu)
20g.63408452G>TCA409640281KCNQ2c.1902C>A (p.Asp634Glu)
c.1848C>A (p.Asp616Glu)
n.33C>A
c.1245C>A (p.Asp415Glu)
n.4C>A
c.1755C>A (p.Asp585Glu)
c.1416C>A (p.Asp472Glu)
c.1764C>A (p.Asp588Glu)
c.1872C>A (p.Asp624Glu)
c.1836C>A (p.Asp612Glu)
c.1794C>A (p.Asp598Glu)
c.1679+4998C>A (n.1679+4998C>A)
c.1890C>A (p.Asp630Glu)
c.1956C>A (p.Asp652Glu)
c.1953C>A (p.Asp651Glu)
c.1926C>A (p.Asp642Glu)
c.1845C>A (p.Asp615Glu)
c.1830C>A (p.Asp610Glu)
c.1437C>A (p.Asp479Glu)
c.1899C>A (p.Asp633Glu)
c.1833C>A (p.Asp611Glu)
c.1791C>A (p.Asp597Glu)
c.864C>A (p.Asp288Glu)
20g.63408453delCA2577453724KCNQ2c.1901del (p.Asp634AlafsTer4)
c.1847del (p.Asp616AlafsTer4)
n.32del
c.1244del (p.Asp415AlafsTer4)
n.3del
c.1754del (p.Asp585AlafsTer4)
c.1415del (p.Asp472AlafsTer4)
c.1763del (p.Asp588AlafsTer4)
c.1871del (p.Asp624AlafsTer4)
c.1835del (p.Asp612AlafsTer4)
c.1793del (p.Asp598AlafsTer4)
c.1679+4997del (n.1679+4997del)
c.1889del (p.Asp630AlafsTer4)
c.1955del (p.Asp652AlafsTer4)
c.1952del (p.Asp651AlafsTer4)
c.1925del (p.Asp642AlafsTer4)
c.1844del (p.Asp615AlafsTer4)
c.1829del (p.Asp610AlafsTer4)
c.1436del (p.Asp479AlafsTer4)
c.1898del (p.Asp633AlafsTer4)
c.1832del (p.Asp611AlafsTer4)
c.1790del (p.Asp597AlafsTer4)
c.863del (p.Asp288AlafsTer4)
20g.63408453T>ACA409640282KCNQ2c.1901A>T (p.Asp634Val)
c.1847A>T (p.Asp616Val)
n.32A>T
c.1244A>T (p.Asp415Val)
n.3A>T
c.1754A>T (p.Asp585Val)
c.1415A>T (p.Asp472Val)
c.1763A>T (p.Asp588Val)
c.1871A>T (p.Asp624Val)
c.1835A>T (p.Asp612Val)
c.1793A>T (p.Asp598Val)
c.1679+4997A>T (n.1679+4997A>T)
c.1889A>T (p.Asp630Val)
c.1955A>T (p.Asp652Val)
c.1952A>T (p.Asp651Val)
c.1925A>T (p.Asp642Val)
c.1844A>T (p.Asp615Val)
c.1829A>T (p.Asp610Val)
c.1436A>T (p.Asp479Val)
c.1898A>T (p.Asp633Val)
c.1832A>T (p.Asp611Val)
c.1790A>T (p.Asp597Val)
c.863A>T (p.Asp288Val)
20g.63408453T>CCA409640283KCNQ2c.1901A>G (p.Asp634Gly)
c.1847A>G (p.Asp616Gly)
n.32A>G
c.1244A>G (p.Asp415Gly)
n.3A>G
c.1754A>G (p.Asp585Gly)
c.1415A>G (p.Asp472Gly)
c.1763A>G (p.Asp588Gly)
c.1871A>G (p.Asp624Gly)
c.1835A>G (p.Asp612Gly)
c.1793A>G (p.Asp598Gly)
c.1679+4997A>G (n.1679+4997A>G)
c.1889A>G (p.Asp630Gly)
c.1955A>G (p.Asp652Gly)
c.1952A>G (p.Asp651Gly)
c.1925A>G (p.Asp642Gly)
c.1844A>G (p.Asp615Gly)
c.1829A>G (p.Asp610Gly)
c.1436A>G (p.Asp479Gly)
c.1898A>G (p.Asp633Gly)
c.1832A>G (p.Asp611Gly)
c.1790A>G (p.Asp597Gly)
c.863A>G (p.Asp288Gly)
20g.63408453T>GCA409640284KCNQ2c.1901A>C (p.Asp634Ala)
c.1847A>C (p.Asp616Ala)
n.32A>C
c.1244A>C (p.Asp415Ala)
n.3A>C
c.1754A>C (p.Asp585Ala)
c.1415A>C (p.Asp472Ala)
c.1763A>C (p.Asp588Ala)
c.1871A>C (p.Asp624Ala)
c.1835A>C (p.Asp612Ala)
c.1793A>C (p.Asp598Ala)
c.1679+4997A>C (n.1679+4997A>C)
c.1889A>C (p.Asp630Ala)
c.1955A>C (p.Asp652Ala)
c.1952A>C (p.Asp651Ala)
c.1925A>C (p.Asp642Ala)
c.1844A>C (p.Asp615Ala)
c.1829A>C (p.Asp610Ala)
c.1436A>C (p.Asp479Ala)
c.1898A>C (p.Asp633Ala)
c.1832A>C (p.Asp611Ala)
c.1790A>C (p.Asp597Ala)
c.863A>C (p.Asp288Ala)
20g.63408454C>ACA409640285KCNQ2c.1900G>T (p.Asp634Tyr)
c.1846G>T (p.Asp616Tyr)
n.31G>T
c.1243G>T (p.Asp415Tyr)
n.2G>T
c.1753G>T (p.Asp585Tyr)
c.1414G>T (p.Asp472Tyr)
c.1762G>T (p.Asp588Tyr)
c.1870G>T (p.Asp624Tyr)
c.1834G>T (p.Asp612Tyr)
c.1792G>T (p.Asp598Tyr)
c.1679+4996G>T (n.1679+4996G>T)
c.1888G>T (p.Asp630Tyr)
c.1954G>T (p.Asp652Tyr)
c.1951G>T (p.Asp651Tyr)
c.1924G>T (p.Asp642Tyr)
c.1843G>T (p.Asp615Tyr)
c.1828G>T (p.Asp610Tyr)
c.1435G>T (p.Asp479Tyr)
c.1897G>T (p.Asp633Tyr)
c.1831G>T (p.Asp611Tyr)
c.1789G>T (p.Asp597Tyr)
c.862G>T (p.Asp288Tyr)
 gnomAD v4
20g.63408454C>GCA409640286KCNQ2c.1900G>C (p.Asp634His)
c.1846G>C (p.Asp616His)
n.31G>C
c.1243G>C (p.Asp415His)
n.2G>C
c.1753G>C (p.Asp585His)
c.1414G>C (p.Asp472His)
c.1762G>C (p.Asp588His)
c.1870G>C (p.Asp624His)
c.1834G>C (p.Asp612His)
c.1792G>C (p.Asp598His)
c.1679+4996G>C (n.1679+4996G>C)
c.1888G>C (p.Asp630His)
c.1954G>C (p.Asp652His)
c.1951G>C (p.Asp651His)
c.1924G>C (p.Asp642His)
c.1843G>C (p.Asp615His)
c.1828G>C (p.Asp610His)
c.1435G>C (p.Asp479His)
c.1897G>C (p.Asp633His)
c.1831G>C (p.Asp611His)
c.1789G>C (p.Asp597His)
c.862G>C (p.Asp288His)
20g.63408454C>TCA409640287KCNQ2c.1900G>A (p.Asp634Asn)
c.1846G>A (p.Asp616Asn)
n.31G>A
c.1243G>A (p.Asp415Asn)
n.2G>A
c.1753G>A (p.Asp585Asn)
c.1414G>A (p.Asp472Asn)
c.1762G>A (p.Asp588Asn)
c.1870G>A (p.Asp624Asn)
c.1834G>A (p.Asp612Asn)
c.1792G>A (p.Asp598Asn)
c.1679+4996G>A (n.1679+4996G>A)
c.1888G>A (p.Asp630Asn)
c.1954G>A (p.Asp652Asn)
c.1951G>A (p.Asp651Asn)
c.1924G>A (p.Asp642Asn)
c.1843G>A (p.Asp615Asn)
c.1828G>A (p.Asp610Asn)
c.1435G>A (p.Asp479Asn)
c.1897G>A (p.Asp633Asn)
c.1831G>A (p.Asp611Asn)
c.1789G>A (p.Asp597Asn)
c.862G>A (p.Asp288Asn)
 gnomAD v4 COSMIC COSMIC
20g.63408455C>ACA409640289KCNQ2c.1899G>T (p.Glu633Asp)
c.1845G>T (p.Glu615Asp)
n.30G>T
c.1242G>T (p.Glu414Asp)
n.1G>T
c.1752G>T (p.Glu584Asp)
c.1413G>T (p.Glu471Asp)
c.1761G>T (p.Glu587Asp)
c.1869G>T (p.Glu623Asp)
c.1833G>T (p.Glu611Asp)
c.1791G>T (p.Glu597Asp)
c.1679+4995G>T (n.1679+4995G>T)
c.1887G>T (p.Glu629Asp)
c.1953G>T (p.Glu651Asp)
c.1950G>T (p.Glu650Asp)
c.1923G>T (p.Glu641Asp)
c.1842G>T (p.Glu614Asp)
c.1827G>T (p.Glu609Asp)
c.1434G>T (p.Glu478Asp)
c.1896G>T (p.Glu632Asp)
c.1830G>T (p.Glu610Asp)
c.1788G>T (p.Glu596Asp)
c.861G>T (p.Glu287Asp)
20g.63408455C>GCA409640288KCNQ2c.1899G>C (p.Glu633Asp)
c.1845G>C (p.Glu615Asp)
n.30G>C
c.1242G>C (p.Glu414Asp)
n.1G>C
c.1752G>C (p.Glu584Asp)
c.1413G>C (p.Glu471Asp)
c.1761G>C (p.Glu587Asp)
c.1869G>C (p.Glu623Asp)
c.1833G>C (p.Glu611Asp)
c.1791G>C (p.Glu597Asp)
c.1679+4995G>C (n.1679+4995G>C)
c.1887G>C (p.Glu629Asp)
c.1953G>C (p.Glu651Asp)
c.1950G>C (p.Glu650Asp)
c.1923G>C (p.Glu641Asp)
c.1842G>C (p.Glu614Asp)
c.1827G>C (p.Glu609Asp)
c.1434G>C (p.Glu478Asp)
c.1896G>C (p.Glu632Asp)
c.1830G>C (p.Glu610Asp)
c.1788G>C (p.Glu596Asp)
c.861G>C (p.Glu287Asp)
20g.63408455C>TCA511203549KCNQ2c.1899G>A (p.Glu633=)
c.1845G>A (p.Glu615=)
n.30G>A
c.1242G>A (p.Glu414=)
n.1G>A
c.1752G>A (p.Glu584=)
c.1413G>A (p.Glu471=)
c.1761G>A (p.Glu587=)
c.1869G>A (p.Glu623=)
c.1833G>A (p.Glu611=)
c.1791G>A (p.Glu597=)
c.1679+4995G>A (n.1679+4995G>A)
c.1887G>A (p.Glu629=)
c.1953G>A (p.Glu651=)
c.1950G>A (p.Glu650=)
c.1923G>A (p.Glu641=)
c.1842G>A (p.Glu614=)
c.1827G>A (p.Glu609=)
c.1434G>A (p.Glu478=)
c.1896G>A (p.Glu632=)
c.1830G>A (p.Glu610=)
c.1788G>A (p.Glu596=)
c.861G>A (p.Glu287=)
 gnomAD v4
20g.63408456T>ACA409640290KCNQ2c.1898A>T (p.Glu633Val)
c.1844A>T (p.Glu615Val)
n.29A>T
c.1241A>T (p.Glu414Val)
c.1751A>T (p.Glu584Val)
c.1412A>T (p.Glu471Val)
c.1760A>T (p.Glu587Val)
c.1868A>T (p.Glu623Val)
c.1832A>T (p.Glu611Val)
c.1790A>T (p.Glu597Val)
c.1679+4994A>T (n.1679+4994A>T)
c.1886A>T (p.Glu629Val)
c.1952A>T (p.Glu651Val)
c.1949A>T (p.Glu650Val)
c.1922A>T (p.Glu641Val)
c.1841A>T (p.Glu614Val)
c.1826A>T (p.Glu609Val)
c.1433A>T (p.Glu478Val)
c.1895A>T (p.Glu632Val)
c.1829A>T (p.Glu610Val)
c.1787A>T (p.Glu596Val)
c.860A>T (p.Glu287Val)
20g.63408456T>CCA409640291KCNQ2c.1898A>G (p.Glu633Gly)
c.1844A>G (p.Glu615Gly)
n.29A>G
c.1241A>G (p.Glu414Gly)
c.1751A>G (p.Glu584Gly)
c.1412A>G (p.Glu471Gly)
c.1760A>G (p.Glu587Gly)
c.1868A>G (p.Glu623Gly)
c.1832A>G (p.Glu611Gly)
c.1790A>G (p.Glu597Gly)
c.1679+4994A>G (n.1679+4994A>G)
c.1886A>G (p.Glu629Gly)
c.1952A>G (p.Glu651Gly)
c.1949A>G (p.Glu650Gly)
c.1922A>G (p.Glu641Gly)
c.1841A>G (p.Glu614Gly)
c.1826A>G (p.Glu609Gly)
c.1433A>G (p.Glu478Gly)
c.1895A>G (p.Glu632Gly)
c.1829A>G (p.Glu610Gly)
c.1787A>G (p.Glu596Gly)
c.860A>G (p.Glu287Gly)
20g.63408456T>GCA409640292KCNQ2c.1898A>C (p.Glu633Ala)
c.1844A>C (p.Glu615Ala)
n.29A>C
c.1241A>C (p.Glu414Ala)
c.1751A>C (p.Glu584Ala)
c.1412A>C (p.Glu471Ala)
c.1760A>C (p.Glu587Ala)
c.1868A>C (p.Glu623Ala)
c.1832A>C (p.Glu611Ala)
c.1790A>C (p.Glu597Ala)
c.1679+4994A>C (n.1679+4994A>C)
c.1886A>C (p.Glu629Ala)
c.1952A>C (p.Glu651Ala)
c.1949A>C (p.Glu650Ala)
c.1922A>C (p.Glu641Ala)
c.1841A>C (p.Glu614Ala)
c.1826A>C (p.Glu609Ala)
c.1433A>C (p.Glu478Ala)
c.1895A>C (p.Glu632Ala)
c.1829A>C (p.Glu610Ala)
c.1787A>C (p.Glu596Ala)
c.860A>C (p.Glu287Ala)
 gnomAD v4
20g.63408457C>ACA409640293KCNQ2c.1897G>T (p.Glu633Ter)
c.1843G>T (p.Glu615Ter)
n.28G>T
c.1240G>T (p.Glu414Ter)
c.1750G>T (p.Glu584Ter)
c.1411G>T (p.Glu471Ter)
c.1759G>T (p.Glu587Ter)
c.1867G>T (p.Glu623Ter)
c.1831G>T (p.Glu611Ter)
c.1789G>T (p.Glu597Ter)
c.1679+4993G>T (n.1679+4993G>T)
c.1885G>T (p.Glu629Ter)
c.1951G>T (p.Glu651Ter)
c.1948G>T (p.Glu650Ter)
c.1921G>T (p.Glu641Ter)
c.1840G>T (p.Glu614Ter)
c.1825G>T (p.Glu609Ter)
c.1432G>T (p.Glu478Ter)
c.1894G>T (p.Glu632Ter)
c.1828G>T (p.Glu610Ter)
c.1786G>T (p.Glu596Ter)
c.859G>T (p.Glu287Ter)
20g.63408457C=CA2374775207KCNQ2c.1897G= (p.Glu633=)
c.1843G= (p.Glu615=)
n.28G=
c.1240G= (p.Glu414=)
c.1750G= (p.Glu584=)
c.1411G= (p.Glu471=)
c.1759G= (p.Glu587=)
c.1867G= (p.Glu623=)
c.1831G= (p.Glu611=)
c.1789G= (p.Glu597=)
c.1679+4993G= (n.1679+4993G=)
c.1885G= (p.Glu629=)
c.1951G= (p.Glu651=)
c.1948G= (p.Glu650=)
c.1921G= (p.Glu641=)
c.1840G= (p.Glu614=)
c.1825G= (p.Glu609=)
c.1432G= (p.Glu478=)
c.1894G= (p.Glu632=)
c.1828G= (p.Glu610=)
c.1786G= (p.Glu596=)
c.859G= (p.Glu287=)
20g.63408457C>GCA409640294KCNQ2c.1897G>C (p.Glu633Gln)
c.1843G>C (p.Glu615Gln)
n.28G>C
c.1240G>C (p.Glu414Gln)
c.1750G>C (p.Glu584Gln)
c.1411G>C (p.Glu471Gln)
c.1759G>C (p.Glu587Gln)
c.1867G>C (p.Glu623Gln)
c.1831G>C (p.Glu611Gln)
c.1789G>C (p.Glu597Gln)
c.1679+4993G>C (n.1679+4993G>C)
c.1885G>C (p.Glu629Gln)
c.1951G>C (p.Glu651Gln)
c.1948G>C (p.Glu650Gln)
c.1921G>C (p.Glu641Gln)
c.1840G>C (p.Glu614Gln)
c.1825G>C (p.Glu609Gln)
c.1432G>C (p.Glu478Gln)
c.1894G>C (p.Glu632Gln)
c.1828G>C (p.Glu610Gln)
c.1786G>C (p.Glu596Gln)
c.859G>C (p.Glu287Gln)
20g.63408457C>TCA409640295KCNQ2c.1897G>A (p.Glu633Lys)
c.1843G>A (p.Glu615Lys)
n.28G>A
c.1240G>A (p.Glu414Lys)
c.1750G>A (p.Glu584Lys)
c.1411G>A (p.Glu471Lys)
c.1759G>A (p.Glu587Lys)
c.1867G>A (p.Glu623Lys)
c.1831G>A (p.Glu611Lys)
c.1789G>A (p.Glu597Lys)
c.1679+4993G>A (n.1679+4993G>A)
c.1885G>A (p.Glu629Lys)
c.1951G>A (p.Glu651Lys)
c.1948G>A (p.Glu650Lys)
c.1921G>A (p.Glu641Lys)
c.1840G>A (p.Glu614Lys)
c.1825G>A (p.Glu609Lys)
c.1432G>A (p.Glu478Lys)
c.1894G>A (p.Glu632Lys)
c.1828G>A (p.Glu610Lys)
c.1786G>A (p.Glu596Lys)
c.859G>A (p.Glu287Lys)
 ClinVar dbSNP gnomAD v2
20g.63408458G>ACA234146KCNQ2c.1896C>T (p.Pro632=)
c.1842C>T (p.Pro614=)
n.27C>T
c.1239C>T (p.Pro413=)
c.1749C>T (p.Pro583=)
c.1410C>T (p.Pro470=)
c.1758C>T (p.Pro586=)
c.1866C>T (p.Pro622=)
c.1830C>T (p.Pro610=)
c.1788C>T (p.Pro596=)
c.1679+4992C>T (n.1679+4992C>T)
c.1884C>T (p.Pro628=)
c.1950C>T (p.Pro650=)
c.1947C>T (p.Pro649=)
c.1920C>T (p.Pro640=)
c.1839C>T (p.Pro613=)
c.1824C>T (p.Pro608=)
c.1431C>T (p.Pro477=)
c.1893C>T (p.Pro631=)
c.1827C>T (p.Pro609=)
c.1785C>T (p.Pro595=)
c.858C>T (p.Pro286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408458G>CCA511203550KCNQ2c.1896C>G (p.Pro632=)
c.1842C>G (p.Pro614=)
n.27C>G
c.1239C>G (p.Pro413=)
c.1749C>G (p.Pro583=)
c.1410C>G (p.Pro470=)
c.1758C>G (p.Pro586=)
c.1866C>G (p.Pro622=)
c.1830C>G (p.Pro610=)
c.1788C>G (p.Pro596=)
c.1679+4992C>G (n.1679+4992C>G)
c.1884C>G (p.Pro628=)
c.1950C>G (p.Pro650=)
c.1947C>G (p.Pro649=)
c.1920C>G (p.Pro640=)
c.1839C>G (p.Pro613=)
c.1824C>G (p.Pro608=)
c.1431C>G (p.Pro477=)
c.1893C>G (p.Pro631=)
c.1827C>G (p.Pro609=)
c.1785C>G (p.Pro595=)
c.858C>G (p.Pro286=)
 gnomAD v4
20g.63408458G=CA2374775208KCNQ2c.1896C= (p.Pro632=)
c.1842C= (p.Pro614=)
n.27C=
c.1239C= (p.Pro413=)
c.1749C= (p.Pro583=)
c.1410C= (p.Pro470=)
c.1758C= (p.Pro586=)
c.1866C= (p.Pro622=)
c.1830C= (p.Pro610=)
c.1788C= (p.Pro596=)
c.1679+4992C= (n.1679+4992C=)
c.1884C= (p.Pro628=)
c.1950C= (p.Pro650=)
c.1947C= (p.Pro649=)
c.1920C= (p.Pro640=)
c.1839C= (p.Pro613=)
c.1824C= (p.Pro608=)
c.1431C= (p.Pro477=)
c.1893C= (p.Pro631=)
c.1827C= (p.Pro609=)
c.1785C= (p.Pro595=)
c.858C= (p.Pro286=)
20g.63408458G>TCA511203551KCNQ2c.1896C>A (p.Pro632=)
c.1842C>A (p.Pro614=)
n.27C>A
c.1239C>A (p.Pro413=)
c.1749C>A (p.Pro583=)
c.1410C>A (p.Pro470=)
c.1758C>A (p.Pro586=)
c.1866C>A (p.Pro622=)
c.1830C>A (p.Pro610=)
c.1788C>A (p.Pro596=)
c.1679+4992C>A (n.1679+4992C>A)
c.1884C>A (p.Pro628=)
c.1950C>A (p.Pro650=)
c.1947C>A (p.Pro649=)
c.1920C>A (p.Pro640=)
c.1839C>A (p.Pro613=)
c.1824C>A (p.Pro608=)
c.1431C>A (p.Pro477=)
c.1893C>A (p.Pro631=)
c.1827C>A (p.Pro609=)
c.1785C>A (p.Pro595=)
c.858C>A (p.Pro286=)
 gnomAD v4
20g.63408460delCA645608745KCNQ2c.1896del (p.Glu633ArgfsTer5)
c.1842del (p.Glu615ArgfsTer5)
n.27del
c.1239del (p.Glu414ArgfsTer5)
c.1749del (p.Glu584ArgfsTer5)
c.1410del (p.Glu471ArgfsTer5)
c.1758del (p.Glu587ArgfsTer5)
c.1866del (p.Glu623ArgfsTer5)
c.1830del (p.Glu611ArgfsTer5)
c.1788del (p.Glu597ArgfsTer5)
c.1679+4992del (n.1679+4992del)
c.1884del (p.Glu629ArgfsTer5)
c.1950del (p.Glu651ArgfsTer5)
c.1947del (p.Glu650ArgfsTer5)
c.1920del (p.Glu641ArgfsTer5)
c.1839del (p.Glu614ArgfsTer5)
c.1824del (p.Glu609ArgfsTer5)
c.1431del (p.Glu478ArgfsTer5)
c.1893del (p.Glu632ArgfsTer5)
c.1827del (p.Glu610ArgfsTer5)
c.1785del (p.Glu596ArgfsTer5)
c.858del (p.Glu287ArgfsTer5)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408459G>ACA409640296KCNQ2c.1895C>T (p.Pro632Leu)
c.1841C>T (p.Pro614Leu)
n.26C>T
c.1238C>T (p.Pro413Leu)
c.1748C>T (p.Pro583Leu)
c.1409C>T (p.Pro470Leu)
c.1757C>T (p.Pro586Leu)
c.1865C>T (p.Pro622Leu)
c.1829C>T (p.Pro610Leu)
c.1787C>T (p.Pro596Leu)
c.1679+4991C>T (n.1679+4991C>T)
c.1883C>T (p.Pro628Leu)
c.1949C>T (p.Pro650Leu)
c.1946C>T (p.Pro649Leu)
c.1919C>T (p.Pro640Leu)
c.1838C>T (p.Pro613Leu)
c.1823C>T (p.Pro608Leu)
c.1430C>T (p.Pro477Leu)
c.1892C>T (p.Pro631Leu)
c.1826C>T (p.Pro609Leu)
c.1784C>T (p.Pro595Leu)
c.857C>T (p.Pro286Leu)
 gnomAD v4
20g.63408459G>CCA409640297KCNQ2c.1895C>G (p.Pro632Arg)
c.1841C>G (p.Pro614Arg)
n.26C>G
c.1238C>G (p.Pro413Arg)
c.1748C>G (p.Pro583Arg)
c.1409C>G (p.Pro470Arg)
c.1757C>G (p.Pro586Arg)
c.1865C>G (p.Pro622Arg)
c.1829C>G (p.Pro610Arg)
c.1787C>G (p.Pro596Arg)
c.1679+4991C>G (n.1679+4991C>G)
c.1883C>G (p.Pro628Arg)
c.1949C>G (p.Pro650Arg)
c.1946C>G (p.Pro649Arg)
c.1919C>G (p.Pro640Arg)
c.1838C>G (p.Pro613Arg)
c.1823C>G (p.Pro608Arg)
c.1430C>G (p.Pro477Arg)
c.1892C>G (p.Pro631Arg)
c.1826C>G (p.Pro609Arg)
c.1784C>G (p.Pro595Arg)
c.857C>G (p.Pro286Arg)
20g.63408459G>TCA409640298KCNQ2c.1895C>A (p.Pro632His)
c.1841C>A (p.Pro614His)
n.26C>A
c.1238C>A (p.Pro413His)
c.1748C>A (p.Pro583His)
c.1409C>A (p.Pro470His)
c.1757C>A (p.Pro586His)
c.1865C>A (p.Pro622His)
c.1829C>A (p.Pro610His)
c.1787C>A (p.Pro596His)
c.1679+4991C>A (n.1679+4991C>A)
c.1883C>A (p.Pro628His)
c.1949C>A (p.Pro650His)
c.1946C>A (p.Pro649His)
c.1919C>A (p.Pro640His)
c.1838C>A (p.Pro613His)
c.1823C>A (p.Pro608His)
c.1430C>A (p.Pro477His)
c.1892C>A (p.Pro631His)
c.1826C>A (p.Pro609His)
c.1784C>A (p.Pro595His)
c.857C>A (p.Pro286His)
 gnomAD v4
20g.63408460G>ACA409640299KCNQ2c.1894C>T (p.Pro632Ser)
c.1840C>T (p.Pro614Ser)
n.25C>T
c.1237C>T (p.Pro413Ser)
c.1747C>T (p.Pro583Ser)
c.1408C>T (p.Pro470Ser)
c.1756C>T (p.Pro586Ser)
c.1864C>T (p.Pro622Ser)
c.1828C>T (p.Pro610Ser)
c.1786C>T (p.Pro596Ser)
c.1679+4990C>T (n.1679+4990C>T)
c.1882C>T (p.Pro628Ser)
c.1948C>T (p.Pro650Ser)
c.1945C>T (p.Pro649Ser)
c.1918C>T (p.Pro640Ser)
c.1837C>T (p.Pro613Ser)
c.1822C>T (p.Pro608Ser)
c.1429C>T (p.Pro477Ser)
c.1891C>T (p.Pro631Ser)
c.1825C>T (p.Pro609Ser)
c.1783C>T (p.Pro595Ser)
c.856C>T (p.Pro286Ser)
 dbSNP gnomAD v2
20g.63408460G>CCA409640300KCNQ2c.1894C>G (p.Pro632Ala)
c.1840C>G (p.Pro614Ala)
n.25C>G
c.1237C>G (p.Pro413Ala)
c.1747C>G (p.Pro583Ala)
c.1408C>G (p.Pro470Ala)
c.1756C>G (p.Pro586Ala)
c.1864C>G (p.Pro622Ala)
c.1828C>G (p.Pro610Ala)
c.1786C>G (p.Pro596Ala)
c.1679+4990C>G (n.1679+4990C>G)
c.1882C>G (p.Pro628Ala)
c.1948C>G (p.Pro650Ala)
c.1945C>G (p.Pro649Ala)
c.1918C>G (p.Pro640Ala)
c.1837C>G (p.Pro613Ala)
c.1822C>G (p.Pro608Ala)
c.1429C>G (p.Pro477Ala)
c.1891C>G (p.Pro631Ala)
c.1825C>G (p.Pro609Ala)
c.1783C>G (p.Pro595Ala)
c.856C>G (p.Pro286Ala)
20g.63408460G=CA2374775209KCNQ2c.1894C= (p.Pro632=)
c.1840C= (p.Pro614=)
n.25C=
c.1237C= (p.Pro413=)
c.1747C= (p.Pro583=)
c.1408C= (p.Pro470=)
c.1756C= (p.Pro586=)
c.1864C= (p.Pro622=)
c.1828C= (p.Pro610=)
c.1786C= (p.Pro596=)
c.1679+4990C= (n.1679+4990C=)
c.1882C= (p.Pro628=)
c.1948C= (p.Pro650=)
c.1945C= (p.Pro649=)
c.1918C= (p.Pro640=)
c.1837C= (p.Pro613=)
c.1822C= (p.Pro608=)
c.1429C= (p.Pro477=)
c.1891C= (p.Pro631=)
c.1825C= (p.Pro609=)
c.1783C= (p.Pro595=)
c.856C= (p.Pro286=)
20g.63408460G>TCA409640301KCNQ2c.1894C>A (p.Pro632Thr)
c.1840C>A (p.Pro614Thr)
n.25C>A
c.1237C>A (p.Pro413Thr)
c.1747C>A (p.Pro583Thr)
c.1408C>A (p.Pro470Thr)
c.1756C>A (p.Pro586Thr)
c.1864C>A (p.Pro622Thr)
c.1828C>A (p.Pro610Thr)
c.1786C>A (p.Pro596Thr)
c.1679+4990C>A (n.1679+4990C>A)
c.1882C>A (p.Pro628Thr)
c.1948C>A (p.Pro650Thr)
c.1945C>A (p.Pro649Thr)
c.1918C>A (p.Pro640Thr)
c.1837C>A (p.Pro613Thr)
c.1822C>A (p.Pro608Thr)
c.1429C>A (p.Pro477Thr)
c.1891C>A (p.Pro631Thr)
c.1825C>A (p.Pro609Thr)
c.1783C>A (p.Pro595Thr)
c.856C>A (p.Pro286Thr)
20g.63408461C>ACA511203552KCNQ2c.1893G>T (p.Leu631=)
c.1839G>T (p.Leu613=)
n.24G>T
c.1236G>T (p.Leu412=)
c.1746G>T (p.Leu582=)
c.1407G>T (p.Leu469=)
c.1755G>T (p.Leu585=)
c.1863G>T (p.Leu621=)
c.1827G>T (p.Leu609=)
c.1785G>T (p.Leu595=)
c.1679+4989G>T (n.1679+4989G>T)
c.1881G>T (p.Leu627=)
c.1947G>T (p.Leu649=)
c.1944G>T (p.Leu648=)
c.1917G>T (p.Leu639=)
c.1836G>T (p.Leu612=)
c.1821G>T (p.Leu607=)
c.1428G>T (p.Leu476=)
c.1890G>T (p.Leu630=)
c.1824G>T (p.Leu608=)
c.1782G>T (p.Leu594=)
c.855G>T (p.Leu285=)
 dbSNP
20g.63408461C=CA2374775210KCNQ2c.1893G= (p.Leu631=)
c.1839G= (p.Leu613=)
n.24G=
c.1236G= (p.Leu412=)
c.1746G= (p.Leu582=)
c.1407G= (p.Leu469=)
c.1755G= (p.Leu585=)
c.1863G= (p.Leu621=)
c.1827G= (p.Leu609=)
c.1785G= (p.Leu595=)
c.1679+4989G= (n.1679+4989G=)
c.1881G= (p.Leu627=)
c.1947G= (p.Leu649=)
c.1944G= (p.Leu648=)
c.1917G= (p.Leu639=)
c.1836G= (p.Leu612=)
c.1821G= (p.Leu607=)
c.1428G= (p.Leu476=)
c.1890G= (p.Leu630=)
c.1824G= (p.Leu608=)
c.1782G= (p.Leu594=)
c.855G= (p.Leu285=)
20g.63408461C>GCA511203553KCNQ2c.1893G>C (p.Leu631=)
c.1839G>C (p.Leu613=)
n.24G>C
c.1236G>C (p.Leu412=)
c.1746G>C (p.Leu582=)
c.1407G>C (p.Leu469=)
c.1755G>C (p.Leu585=)
c.1863G>C (p.Leu621=)
c.1827G>C (p.Leu609=)
c.1785G>C (p.Leu595=)
c.1679+4989G>C (n.1679+4989G>C)
c.1881G>C (p.Leu627=)
c.1947G>C (p.Leu649=)
c.1944G>C (p.Leu648=)
c.1917G>C (p.Leu639=)
c.1836G>C (p.Leu612=)
c.1821G>C (p.Leu607=)
c.1428G>C (p.Leu476=)
c.1890G>C (p.Leu630=)
c.1824G>C (p.Leu608=)
c.1782G>C (p.Leu594=)
c.855G>C (p.Leu285=)
20g.63408461C>TCA511203554KCNQ2c.1893G>A (p.Leu631=)
c.1839G>A (p.Leu613=)
n.24G>A
c.1236G>A (p.Leu412=)
c.1746G>A (p.Leu582=)
c.1407G>A (p.Leu469=)
c.1755G>A (p.Leu585=)
c.1863G>A (p.Leu621=)
c.1827G>A (p.Leu609=)
c.1785G>A (p.Leu595=)
c.1679+4989G>A (n.1679+4989G>A)
c.1881G>A (p.Leu627=)
c.1947G>A (p.Leu649=)
c.1944G>A (p.Leu648=)
c.1917G>A (p.Leu639=)
c.1836G>A (p.Leu612=)
c.1821G>A (p.Leu607=)
c.1428G>A (p.Leu476=)
c.1890G>A (p.Leu630=)
c.1824G>A (p.Leu608=)
c.1782G>A (p.Leu594=)
c.855G>A (p.Leu285=)
20g.63408462A>CCA409640304KCNQ2c.1892T>G (p.Leu631Arg)
c.1838T>G (p.Leu613Arg)
n.23T>G
c.1235T>G (p.Leu412Arg)
c.1745T>G (p.Leu582Arg)
c.1406T>G (p.Leu469Arg)
c.1754T>G (p.Leu585Arg)
c.1862T>G (p.Leu621Arg)
c.1826T>G (p.Leu609Arg)
c.1784T>G (p.Leu595Arg)
c.1679+4988T>G (n.1679+4988T>G)
c.1880T>G (p.Leu627Arg)
c.1946T>G (p.Leu649Arg)
c.1943T>G (p.Leu648Arg)
c.1916T>G (p.Leu639Arg)
c.1835T>G (p.Leu612Arg)
c.1820T>G (p.Leu607Arg)
c.1427T>G (p.Leu476Arg)
c.1889T>G (p.Leu630Arg)
c.1823T>G (p.Leu608Arg)
c.1781T>G (p.Leu594Arg)
c.854T>G (p.Leu285Arg)
20g.63408462A>GCA409640302KCNQ2c.1892T>C (p.Leu631Pro)
c.1838T>C (p.Leu613Pro)
n.23T>C
c.1235T>C (p.Leu412Pro)
c.1745T>C (p.Leu582Pro)
c.1406T>C (p.Leu469Pro)
c.1754T>C (p.Leu585Pro)
c.1862T>C (p.Leu621Pro)
c.1826T>C (p.Leu609Pro)
c.1784T>C (p.Leu595Pro)
c.1679+4988T>C (n.1679+4988T>C)
c.1880T>C (p.Leu627Pro)
c.1946T>C (p.Leu649Pro)
c.1943T>C (p.Leu648Pro)
c.1916T>C (p.Leu639Pro)
c.1835T>C (p.Leu612Pro)
c.1820T>C (p.Leu607Pro)
c.1427T>C (p.Leu476Pro)
c.1889T>C (p.Leu630Pro)
c.1823T>C (p.Leu608Pro)
c.1781T>C (p.Leu594Pro)
c.854T>C (p.Leu285Pro)
20g.63408462A>TCA409640303KCNQ2c.1892T>A (p.Leu631Gln)
c.1838T>A (p.Leu613Gln)
n.23T>A
c.1235T>A (p.Leu412Gln)
c.1745T>A (p.Leu582Gln)
c.1406T>A (p.Leu469Gln)
c.1754T>A (p.Leu585Gln)
c.1862T>A (p.Leu621Gln)
c.1826T>A (p.Leu609Gln)
c.1784T>A (p.Leu595Gln)
c.1679+4988T>A (n.1679+4988T>A)
c.1880T>A (p.Leu627Gln)
c.1946T>A (p.Leu649Gln)
c.1943T>A (p.Leu648Gln)
c.1916T>A (p.Leu639Gln)
c.1835T>A (p.Leu612Gln)
c.1820T>A (p.Leu607Gln)
c.1427T>A (p.Leu476Gln)
c.1889T>A (p.Leu630Gln)
c.1823T>A (p.Leu608Gln)
c.1781T>A (p.Leu594Gln)
c.854T>A (p.Leu285Gln)
20g.63408463G>ACA511203555KCNQ2c.1891C>T (p.Leu631=)
c.1837C>T (p.Leu613=)
n.22C>T
c.1234C>T (p.Leu412=)
c.1744C>T (p.Leu582=)
c.1405C>T (p.Leu469=)
c.1753C>T (p.Leu585=)
c.1861C>T (p.Leu621=)
c.1825C>T (p.Leu609=)
c.1783C>T (p.Leu595=)
c.1679+4987C>T (n.1679+4987C>T)
c.1879C>T (p.Leu627=)
c.1945C>T (p.Leu649=)
c.1942C>T (p.Leu648=)
c.1915C>T (p.Leu639=)
c.1834C>T (p.Leu612=)
c.1819C>T (p.Leu607=)
c.1426C>T (p.Leu476=)
c.1888C>T (p.Leu630=)
c.1822C>T (p.Leu608=)
c.1780C>T (p.Leu594=)
c.853C>T (p.Leu285=)
 gnomAD v4
20g.63408463G>CCA409640305KCNQ2c.1891C>G (p.Leu631Val)
c.1837C>G (p.Leu613Val)
n.22C>G
c.1234C>G (p.Leu412Val)
c.1744C>G (p.Leu582Val)
c.1405C>G (p.Leu469Val)
c.1753C>G (p.Leu585Val)
c.1861C>G (p.Leu621Val)
c.1825C>G (p.Leu609Val)
c.1783C>G (p.Leu595Val)
c.1679+4987C>G (n.1679+4987C>G)
c.1879C>G (p.Leu627Val)
c.1945C>G (p.Leu649Val)
c.1942C>G (p.Leu648Val)
c.1915C>G (p.Leu639Val)
c.1834C>G (p.Leu612Val)
c.1819C>G (p.Leu607Val)
c.1426C>G (p.Leu476Val)
c.1888C>G (p.Leu630Val)
c.1822C>G (p.Leu608Val)
c.1780C>G (p.Leu594Val)
c.853C>G (p.Leu285Val)
20g.63408463G=CA2374775211KCNQ2c.1891C= (p.Leu631=)
c.1837C= (p.Leu613=)
n.22C=
c.1234C= (p.Leu412=)
c.1744C= (p.Leu582=)
c.1405C= (p.Leu469=)
c.1753C= (p.Leu585=)
c.1861C= (p.Leu621=)
c.1825C= (p.Leu609=)
c.1783C= (p.Leu595=)
c.1679+4987C= (n.1679+4987C=)
c.1879C= (p.Leu627=)
c.1945C= (p.Leu649=)
c.1942C= (p.Leu648=)
c.1915C= (p.Leu639=)
c.1834C= (p.Leu612=)
c.1819C= (p.Leu607=)
c.1426C= (p.Leu476=)
c.1888C= (p.Leu630=)
c.1822C= (p.Leu608=)
c.1780C= (p.Leu594=)
c.853C= (p.Leu285=)
20g.63408463G>TCA409640306KCNQ2c.1891C>A (p.Leu631Met)
c.1837C>A (p.Leu613Met)
n.22C>A
c.1234C>A (p.Leu412Met)
c.1744C>A (p.Leu582Met)
c.1405C>A (p.Leu469Met)
c.1753C>A (p.Leu585Met)
c.1861C>A (p.Leu621Met)
c.1825C>A (p.Leu609Met)
c.1783C>A (p.Leu595Met)
c.1679+4987C>A (n.1679+4987C>A)
c.1879C>A (p.Leu627Met)
c.1945C>A (p.Leu649Met)
c.1942C>A (p.Leu648Met)
c.1915C>A (p.Leu639Met)
c.1834C>A (p.Leu612Met)
c.1819C>A (p.Leu607Met)
c.1426C>A (p.Leu476Met)
c.1888C>A (p.Leu630Met)
c.1822C>A (p.Leu608Met)
c.1780C>A (p.Leu594Met)
c.853C>A (p.Leu285Met)
 dbSNP gnomAD v2 gnomAD v4
20g.63408464C>ACA409640307KCNQ2c.1890G>T (p.Glu630Asp)
c.1836G>T (p.Glu612Asp)
n.21G>T
c.1233G>T (p.Glu411Asp)
c.1743G>T (p.Glu581Asp)
c.1404G>T (p.Glu468Asp)
c.1752G>T (p.Glu584Asp)
c.1860G>T (p.Glu620Asp)
c.1824G>T (p.Glu608Asp)
c.1782G>T (p.Glu594Asp)
c.1679+4986G>T (n.1679+4986G>T)
c.1878G>T (p.Glu626Asp)
c.1944G>T (p.Glu648Asp)
c.1941G>T (p.Glu647Asp)
c.1914G>T (p.Glu638Asp)
c.1833G>T (p.Glu611Asp)
c.1818G>T (p.Glu606Asp)
c.1425G>T (p.Glu475Asp)
c.1887G>T (p.Glu629Asp)
c.1821G>T (p.Glu607Asp)
c.1779G>T (p.Glu593Asp)
c.852G>T (p.Glu284Asp)
20g.63408464C>GCA409640308KCNQ2c.1890G>C (p.Glu630Asp)
c.1836G>C (p.Glu612Asp)
n.21G>C
c.1233G>C (p.Glu411Asp)
c.1743G>C (p.Glu581Asp)
c.1404G>C (p.Glu468Asp)
c.1752G>C (p.Glu584Asp)
c.1860G>C (p.Glu620Asp)
c.1824G>C (p.Glu608Asp)
c.1782G>C (p.Glu594Asp)
c.1679+4986G>C (n.1679+4986G>C)
c.1878G>C (p.Glu626Asp)
c.1944G>C (p.Glu648Asp)
c.1941G>C (p.Glu647Asp)
c.1914G>C (p.Glu638Asp)
c.1833G>C (p.Glu611Asp)
c.1818G>C (p.Glu606Asp)
c.1425G>C (p.Glu475Asp)
c.1887G>C (p.Glu629Asp)
c.1821G>C (p.Glu607Asp)
c.1779G>C (p.Glu593Asp)
c.852G>C (p.Glu284Asp)
20g.63408464C>TCA511203556KCNQ2c.1890G>A (p.Glu630=)
c.1836G>A (p.Glu612=)
n.21G>A
c.1233G>A (p.Glu411=)
c.1743G>A (p.Glu581=)
c.1404G>A (p.Glu468=)
c.1752G>A (p.Glu584=)
c.1860G>A (p.Glu620=)
c.1824G>A (p.Glu608=)
c.1782G>A (p.Glu594=)
c.1679+4986G>A (n.1679+4986G>A)
c.1878G>A (p.Glu626=)
c.1944G>A (p.Glu648=)
c.1941G>A (p.Glu647=)
c.1914G>A (p.Glu638=)
c.1833G>A (p.Glu611=)
c.1818G>A (p.Glu606=)
c.1425G>A (p.Glu475=)
c.1887G>A (p.Glu629=)
c.1821G>A (p.Glu607=)
c.1779G>A (p.Glu593=)
c.852G>A (p.Glu284=)
 gnomAD v4
20g.63408465T>ACA409640309KCNQ2c.1889A>T (p.Glu630Val)
c.1835A>T (p.Glu612Val)
n.20A>T
c.1232A>T (p.Glu411Val)
c.1742A>T (p.Glu581Val)
c.1403A>T (p.Glu468Val)
c.1751A>T (p.Glu584Val)
c.1859A>T (p.Glu620Val)
c.1823A>T (p.Glu608Val)
c.1781A>T (p.Glu594Val)
c.1679+4985A>T (n.1679+4985A>T)
c.1877A>T (p.Glu626Val)
c.1943A>T (p.Glu648Val)
c.1940A>T (p.Glu647Val)
c.1913A>T (p.Glu638Val)
c.1832A>T (p.Glu611Val)
c.1817A>T (p.Glu606Val)
c.1424A>T (p.Glu475Val)
c.1886A>T (p.Glu629Val)
c.1820A>T (p.Glu607Val)
c.1778A>T (p.Glu593Val)
c.851A>T (p.Glu284Val)
20g.63408465T>CCA409640310KCNQ2c.1889A>G (p.Glu630Gly)
c.1835A>G (p.Glu612Gly)
n.20A>G
c.1232A>G (p.Glu411Gly)
c.1742A>G (p.Glu581Gly)
c.1403A>G (p.Glu468Gly)
c.1751A>G (p.Glu584Gly)
c.1859A>G (p.Glu620Gly)
c.1823A>G (p.Glu608Gly)
c.1781A>G (p.Glu594Gly)
c.1679+4985A>G (n.1679+4985A>G)
c.1877A>G (p.Glu626Gly)
c.1943A>G (p.Glu648Gly)
c.1940A>G (p.Glu647Gly)
c.1913A>G (p.Glu638Gly)
c.1832A>G (p.Glu611Gly)
c.1817A>G (p.Glu606Gly)
c.1424A>G (p.Glu475Gly)
c.1886A>G (p.Glu629Gly)
c.1820A>G (p.Glu607Gly)
c.1778A>G (p.Glu593Gly)
c.851A>G (p.Glu284Gly)
 gnomAD v4
20g.63408465T>GCA409640311KCNQ2c.1889A>C (p.Glu630Ala)
c.1835A>C (p.Glu612Ala)
n.20A>C
c.1232A>C (p.Glu411Ala)
c.1742A>C (p.Glu581Ala)
c.1403A>C (p.Glu468Ala)
c.1751A>C (p.Glu584Ala)
c.1859A>C (p.Glu620Ala)
c.1823A>C (p.Glu608Ala)
c.1781A>C (p.Glu594Ala)
c.1679+4985A>C (n.1679+4985A>C)
c.1877A>C (p.Glu626Ala)
c.1943A>C (p.Glu648Ala)
c.1940A>C (p.Glu647Ala)
c.1913A>C (p.Glu638Ala)
c.1832A>C (p.Glu611Ala)
c.1817A>C (p.Glu606Ala)
c.1424A>C (p.Glu475Ala)
c.1886A>C (p.Glu629Ala)
c.1820A>C (p.Glu607Ala)
c.1778A>C (p.Glu593Ala)
c.851A>C (p.Glu284Ala)
20g.63408466C>ACA409640312KCNQ2c.1888G>T (p.Glu630Ter)
c.1834G>T (p.Glu612Ter)
n.19G>T
c.1231G>T (p.Glu411Ter)
c.1741G>T (p.Glu581Ter)
c.1402G>T (p.Glu468Ter)
c.1750G>T (p.Glu584Ter)
c.1858G>T (p.Glu620Ter)
c.1822G>T (p.Glu608Ter)
c.1780G>T (p.Glu594Ter)
c.1679+4984G>T (n.1679+4984G>T)
c.1876G>T (p.Glu626Ter)
c.1942G>T (p.Glu648Ter)
c.1939G>T (p.Glu647Ter)
c.1912G>T (p.Glu638Ter)
c.1831G>T (p.Glu611Ter)
c.1816G>T (p.Glu606Ter)
c.1423G>T (p.Glu475Ter)
c.1885G>T (p.Glu629Ter)
c.1819G>T (p.Glu607Ter)
c.1777G>T (p.Glu593Ter)
c.850G>T (p.Glu284Ter)
 gnomAD v4
20g.63408466C=CA2374775212KCNQ2c.1888G= (p.Glu630=)
c.1834G= (p.Glu612=)
n.19G=
c.1231G= (p.Glu411=)
c.1741G= (p.Glu581=)
c.1402G= (p.Glu468=)
c.1750G= (p.Glu584=)
c.1858G= (p.Glu620=)
c.1822G= (p.Glu608=)
c.1780G= (p.Glu594=)
c.1679+4984G= (n.1679+4984G=)
c.1876G= (p.Glu626=)
c.1942G= (p.Glu648=)
c.1939G= (p.Glu647=)
c.1912G= (p.Glu638=)
c.1831G= (p.Glu611=)
c.1816G= (p.Glu606=)
c.1423G= (p.Glu475=)
c.1885G= (p.Glu629=)
c.1819G= (p.Glu607=)
c.1777G= (p.Glu593=)
c.850G= (p.Glu284=)
20g.63408466C>GCA409640313KCNQ2c.1888G>C (p.Glu630Gln)
c.1834G>C (p.Glu612Gln)
n.19G>C
c.1231G>C (p.Glu411Gln)
c.1741G>C (p.Glu581Gln)
c.1402G>C (p.Glu468Gln)
c.1750G>C (p.Glu584Gln)
c.1858G>C (p.Glu620Gln)
c.1822G>C (p.Glu608Gln)
c.1780G>C (p.Glu594Gln)
c.1679+4984G>C (n.1679+4984G>C)
c.1876G>C (p.Glu626Gln)
c.1942G>C (p.Glu648Gln)
c.1939G>C (p.Glu647Gln)
c.1912G>C (p.Glu638Gln)
c.1831G>C (p.Glu611Gln)
c.1816G>C (p.Glu606Gln)
c.1423G>C (p.Glu475Gln)
c.1885G>C (p.Glu629Gln)
c.1819G>C (p.Glu607Gln)
c.1777G>C (p.Glu593Gln)
c.850G>C (p.Glu284Gln)
20g.63408466C>TCA409640314KCNQ2c.1888G>A (p.Glu630Lys)
c.1834G>A (p.Glu612Lys)
n.19G>A
c.1231G>A (p.Glu411Lys)
c.1741G>A (p.Glu581Lys)
c.1402G>A (p.Glu468Lys)
c.1750G>A (p.Glu584Lys)
c.1858G>A (p.Glu620Lys)
c.1822G>A (p.Glu608Lys)
c.1780G>A (p.Glu594Lys)
c.1679+4984G>A (n.1679+4984G>A)
c.1876G>A (p.Glu626Lys)
c.1942G>A (p.Glu648Lys)
c.1939G>A (p.Glu647Lys)
c.1912G>A (p.Glu638Lys)
c.1831G>A (p.Glu611Lys)
c.1816G>A (p.Glu606Lys)
c.1423G>A (p.Glu475Lys)
c.1885G>A (p.Glu629Lys)
c.1819G>A (p.Glu607Lys)
c.1777G>A (p.Glu593Lys)
c.850G>A (p.Glu284Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408467C>ACA511203557KCNQ2c.1887G>T (p.Ala629=)
c.1833G>T (p.Ala611=)
n.18G>T
c.1230G>T (p.Ala410=)
c.1740G>T (p.Ala580=)
c.1401G>T (p.Ala467=)
c.1749G>T (p.Ala583=)
c.1857G>T (p.Ala619=)
c.1821G>T (p.Ala607=)
c.1779G>T (p.Ala593=)
c.1679+4983G>T (n.1679+4983G>T)
c.1875G>T (p.Ala625=)
c.1941G>T (p.Ala647=)
c.1938G>T (p.Ala646=)
c.1911G>T (p.Ala637=)
c.1830G>T (p.Ala610=)
c.1815G>T (p.Ala605=)
c.1422G>T (p.Ala474=)
c.1884G>T (p.Ala628=)
c.1818G>T (p.Ala606=)
c.1776G>T (p.Ala592=)
c.849G>T (p.Ala283=)
 gnomAD v4
20g.63408467C=CA2374775213KCNQ2c.1887G= (p.Ala629=)
c.1833G= (p.Ala611=)
n.18G=
c.1230G= (p.Ala410=)
c.1740G= (p.Ala580=)
c.1401G= (p.Ala467=)
c.1749G= (p.Ala583=)
c.1857G= (p.Ala619=)
c.1821G= (p.Ala607=)
c.1779G= (p.Ala593=)
c.1679+4983G= (n.1679+4983G=)
c.1875G= (p.Ala625=)
c.1941G= (p.Ala647=)
c.1938G= (p.Ala646=)
c.1911G= (p.Ala637=)
c.1830G= (p.Ala610=)
c.1815G= (p.Ala605=)
c.1422G= (p.Ala474=)
c.1884G= (p.Ala628=)
c.1818G= (p.Ala606=)
c.1776G= (p.Ala592=)
c.849G= (p.Ala283=)
20g.63408467C>GCA511203558KCNQ2c.1887G>C (p.Ala629=)
c.1833G>C (p.Ala611=)
n.18G>C
c.1230G>C (p.Ala410=)
c.1740G>C (p.Ala580=)
c.1401G>C (p.Ala467=)
c.1749G>C (p.Ala583=)
c.1857G>C (p.Ala619=)
c.1821G>C (p.Ala607=)
c.1779G>C (p.Ala593=)
c.1679+4983G>C (n.1679+4983G>C)
c.1875G>C (p.Ala625=)
c.1941G>C (p.Ala647=)
c.1938G>C (p.Ala646=)
c.1911G>C (p.Ala637=)
c.1830G>C (p.Ala610=)
c.1815G>C (p.Ala605=)
c.1422G>C (p.Ala474=)
c.1884G>C (p.Ala628=)
c.1818G>C (p.Ala606=)
c.1776G>C (p.Ala592=)
c.849G>C (p.Ala283=)
20g.63408467C>TCA291809KCNQ2c.1887G>A (p.Ala629=)
c.1833G>A (p.Ala611=)
n.18G>A
c.1230G>A (p.Ala410=)
c.1740G>A (p.Ala580=)
c.1401G>A (p.Ala467=)
c.1749G>A (p.Ala583=)
c.1857G>A (p.Ala619=)
c.1821G>A (p.Ala607=)
c.1779G>A (p.Ala593=)
c.1679+4983G>A (n.1679+4983G>A)
c.1875G>A (p.Ala625=)
c.1941G>A (p.Ala647=)
c.1938G>A (p.Ala646=)
c.1911G>A (p.Ala637=)
c.1830G>A (p.Ala610=)
c.1815G>A (p.Ala605=)
c.1422G>A (p.Ala474=)
c.1884G>A (p.Ala628=)
c.1818G>A (p.Ala606=)
c.1776G>A (p.Ala592=)
c.849G>A (p.Ala283=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408468_63408469dupCA2695230040KCNQ2c.1886_1887dup (p.Glu630ArgfsTer9)
c.1832_1833dup (p.Glu612ArgfsTer9)
n.17_18dup
c.1229_1230dup (p.Glu411ArgfsTer9)
c.1739_1740dup (p.Glu581ArgfsTer9)
c.1400_1401dup (p.Glu468ArgfsTer9)
c.1748_1749dup (p.Glu584ArgfsTer9)
c.1856_1857dup (p.Glu620ArgfsTer9)
c.1820_1821dup (p.Glu608ArgfsTer9)
c.1778_1779dup (p.Glu594ArgfsTer9)
c.1679+4982_1679+4983dup (n.1679+4982_1679+4983dup)
c.1874_1875dup (p.Glu626ArgfsTer9)
c.1940_1941dup (p.Glu648ArgfsTer9)
c.1937_1938dup (p.Glu647ArgfsTer9)
c.1910_1911dup (p.Glu638ArgfsTer9)
c.1829_1830dup (p.Glu611ArgfsTer9)
c.1814_1815dup (p.Glu606ArgfsTer9)
c.1421_1422dup (p.Glu475ArgfsTer9)
c.1883_1884dup (p.Glu629ArgfsTer9)
c.1817_1818dup (p.Glu607ArgfsTer9)
c.1775_1776dup (p.Glu593ArgfsTer9)
c.848_849dup (p.Glu284ArgfsTer9)
20g.63408468G>ACA315309KCNQ2c.1886C>T (p.Ala629Val)
c.1832C>T (p.Ala611Val)
n.17C>T
c.1229C>T (p.Ala410Val)
c.1739C>T (p.Ala580Val)
c.1400C>T (p.Ala467Val)
c.1748C>T (p.Ala583Val)
c.1856C>T (p.Ala619Val)
c.1820C>T (p.Ala607Val)
c.1778C>T (p.Ala593Val)
c.1679+4982C>T (n.1679+4982C>T)
c.1874C>T (p.Ala625Val)
c.1940C>T (p.Ala647Val)
c.1937C>T (p.Ala646Val)
c.1910C>T (p.Ala637Val)
c.1829C>T (p.Ala610Val)
c.1814C>T (p.Ala605Val)
c.1421C>T (p.Ala474Val)
c.1883C>T (p.Ala628Val)
c.1817C>T (p.Ala606Val)
c.1775C>T (p.Ala592Val)
c.848C>T (p.Ala283Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408468G>CCA409640316KCNQ2c.1886C>G (p.Ala629Gly)
c.1832C>G (p.Ala611Gly)
n.17C>G
c.1229C>G (p.Ala410Gly)
c.1739C>G (p.Ala580Gly)
c.1400C>G (p.Ala467Gly)
c.1748C>G (p.Ala583Gly)
c.1856C>G (p.Ala619Gly)
c.1820C>G (p.Ala607Gly)
c.1778C>G (p.Ala593Gly)
c.1679+4982C>G (n.1679+4982C>G)
c.1874C>G (p.Ala625Gly)
c.1940C>G (p.Ala647Gly)
c.1937C>G (p.Ala646Gly)
c.1910C>G (p.Ala637Gly)
c.1829C>G (p.Ala610Gly)
c.1814C>G (p.Ala605Gly)
c.1421C>G (p.Ala474Gly)
c.1883C>G (p.Ala628Gly)
c.1817C>G (p.Ala606Gly)
c.1775C>G (p.Ala592Gly)
c.848C>G (p.Ala283Gly)
20g.63408468G=CA2374775214KCNQ2c.1886C= (p.Ala629=)
c.1832C= (p.Ala611=)
n.17C=
c.1229C= (p.Ala410=)
c.1739C= (p.Ala580=)
c.1400C= (p.Ala467=)
c.1748C= (p.Ala583=)
c.1856C= (p.Ala619=)
c.1820C= (p.Ala607=)
c.1778C= (p.Ala593=)
c.1679+4982C= (n.1679+4982C=)
c.1874C= (p.Ala625=)
c.1940C= (p.Ala647=)
c.1937C= (p.Ala646=)
c.1910C= (p.Ala637=)
c.1829C= (p.Ala610=)
c.1814C= (p.Ala605=)
c.1421C= (p.Ala474=)
c.1883C= (p.Ala628=)
c.1817C= (p.Ala606=)
c.1775C= (p.Ala592=)
c.848C= (p.Ala283=)
20g.63408468G>TCA409640315KCNQ2c.1886C>A (p.Ala629Glu)
c.1832C>A (p.Ala611Glu)
n.17C>A
c.1229C>A (p.Ala410Glu)
c.1739C>A (p.Ala580Glu)
c.1400C>A (p.Ala467Glu)
c.1748C>A (p.Ala583Glu)
c.1856C>A (p.Ala619Glu)
c.1820C>A (p.Ala607Glu)
c.1778C>A (p.Ala593Glu)
c.1679+4982C>A (n.1679+4982C>A)
c.1874C>A (p.Ala625Glu)
c.1940C>A (p.Ala647Glu)
c.1937C>A (p.Ala646Glu)
c.1910C>A (p.Ala637Glu)
c.1829C>A (p.Ala610Glu)
c.1814C>A (p.Ala605Glu)
c.1421C>A (p.Ala474Glu)
c.1883C>A (p.Ala628Glu)
c.1817C>A (p.Ala606Glu)
c.1775C>A (p.Ala592Glu)
c.848C>A (p.Ala283Glu)
 gnomAD v4
20g.63408469C>ACA317423672KCNQ2c.1885G>T (p.Ala629Ser)
c.1831G>T (p.Ala611Ser)
n.16G>T
c.1228G>T (p.Ala410Ser)
c.1738G>T (p.Ala580Ser)
c.1399G>T (p.Ala467Ser)
c.1747G>T (p.Ala583Ser)
c.1855G>T (p.Ala619Ser)
c.1819G>T (p.Ala607Ser)
c.1777G>T (p.Ala593Ser)
c.1679+4981G>T (n.1679+4981G>T)
c.1873G>T (p.Ala625Ser)
c.1939G>T (p.Ala647Ser)
c.1936G>T (p.Ala646Ser)
c.1909G>T (p.Ala637Ser)
c.1828G>T (p.Ala610Ser)
c.1813G>T (p.Ala605Ser)
c.1420G>T (p.Ala474Ser)
c.1882G>T (p.Ala628Ser)
c.1816G>T (p.Ala606Ser)
c.1774G>T (p.Ala592Ser)
c.847G>T (p.Ala283Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63408469C=CA2374775215KCNQ2c.1885G= (p.Ala629=)
c.1831G= (p.Ala611=)
n.16G=
c.1228G= (p.Ala410=)
c.1738G= (p.Ala580=)
c.1399G= (p.Ala467=)
c.1747G= (p.Ala583=)
c.1855G= (p.Ala619=)
c.1819G= (p.Ala607=)
c.1777G= (p.Ala593=)
c.1679+4981G= (n.1679+4981G=)
c.1873G= (p.Ala625=)
c.1939G= (p.Ala647=)
c.1936G= (p.Ala646=)
c.1909G= (p.Ala637=)
c.1828G= (p.Ala610=)
c.1813G= (p.Ala605=)
c.1420G= (p.Ala474=)
c.1882G= (p.Ala628=)
c.1816G= (p.Ala606=)
c.1774G= (p.Ala592=)
c.847G= (p.Ala283=)
20g.63408469C>GCA409640317KCNQ2c.1885G>C (p.Ala629Pro)
c.1831G>C (p.Ala611Pro)
n.16G>C
c.1228G>C (p.Ala410Pro)
c.1738G>C (p.Ala580Pro)
c.1399G>C (p.Ala467Pro)
c.1747G>C (p.Ala583Pro)
c.1855G>C (p.Ala619Pro)
c.1819G>C (p.Ala607Pro)
c.1777G>C (p.Ala593Pro)
c.1679+4981G>C (n.1679+4981G>C)
c.1873G>C (p.Ala625Pro)
c.1939G>C (p.Ala647Pro)
c.1936G>C (p.Ala646Pro)
c.1909G>C (p.Ala637Pro)
c.1828G>C (p.Ala610Pro)
c.1813G>C (p.Ala605Pro)
c.1420G>C (p.Ala474Pro)
c.1882G>C (p.Ala628Pro)
c.1816G>C (p.Ala606Pro)
c.1774G>C (p.Ala592Pro)
c.847G>C (p.Ala283Pro)
 dbSNP gnomAD v4
20g.63408469C>TCA9958235KCNQ2c.1885G>A (p.Ala629Thr)
c.1831G>A (p.Ala611Thr)
n.16G>A
c.1228G>A (p.Ala410Thr)
c.1738G>A (p.Ala580Thr)
c.1399G>A (p.Ala467Thr)
c.1747G>A (p.Ala583Thr)
c.1855G>A (p.Ala619Thr)
c.1819G>A (p.Ala607Thr)
c.1777G>A (p.Ala593Thr)
c.1679+4981G>A (n.1679+4981G>A)
c.1873G>A (p.Ala625Thr)
c.1939G>A (p.Ala647Thr)
c.1936G>A (p.Ala646Thr)
c.1909G>A (p.Ala637Thr)
c.1828G>A (p.Ala610Thr)
c.1813G>A (p.Ala605Thr)
c.1420G>A (p.Ala474Thr)
c.1882G>A (p.Ala628Thr)
c.1816G>A (p.Ala606Thr)
c.1774G>A (p.Ala592Thr)
c.847G>A (p.Ala283Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63408470C>ACA409640318KCNQ2c.1884G>T (p.Glu628Asp)
c.1830G>T (p.Glu610Asp)
n.15G>T
c.1227G>T (p.Glu409Asp)
c.1737G>T (p.Glu579Asp)
c.1398G>T (p.Glu466Asp)
c.1746G>T (p.Glu582Asp)
c.1854G>T (p.Glu618Asp)
c.1818G>T (p.Glu606Asp)
c.1776G>T (p.Glu592Asp)
c.1679+4980G>T (n.1679+4980G>T)
c.1872G>T (p.Glu624Asp)
c.1938G>T (p.Glu646Asp)
c.1935G>T (p.Glu645Asp)
c.1908G>T (p.Glu636Asp)
c.1827G>T (p.Glu609Asp)
c.1812G>T (p.Glu604Asp)
c.1419G>T (p.Glu473Asp)
c.1881G>T (p.Glu627Asp)
c.1815G>T (p.Glu605Asp)
c.1773G>T (p.Glu591Asp)
c.846G>T (p.Glu282Asp)
 gnomAD v4
20g.63408470C>GCA409640319KCNQ2c.1884G>C (p.Glu628Asp)
c.1830G>C (p.Glu610Asp)
n.15G>C
c.1227G>C (p.Glu409Asp)
c.1737G>C (p.Glu579Asp)
c.1398G>C (p.Glu466Asp)
c.1746G>C (p.Glu582Asp)
c.1854G>C (p.Glu618Asp)
c.1818G>C (p.Glu606Asp)
c.1776G>C (p.Glu592Asp)
c.1679+4980G>C (n.1679+4980G>C)
c.1872G>C (p.Glu624Asp)
c.1938G>C (p.Glu646Asp)
c.1935G>C (p.Glu645Asp)
c.1908G>C (p.Glu636Asp)
c.1827G>C (p.Glu609Asp)
c.1812G>C (p.Glu604Asp)
c.1419G>C (p.Glu473Asp)
c.1881G>C (p.Glu627Asp)
c.1815G>C (p.Glu605Asp)
c.1773G>C (p.Glu591Asp)
c.846G>C (p.Glu282Asp)
 ClinVar dbSNP
20g.63408470C>TCA511203559KCNQ2c.1884G>A (p.Glu628=)
c.1830G>A (p.Glu610=)
n.15G>A
c.1227G>A (p.Glu409=)
c.1737G>A (p.Glu579=)
c.1398G>A (p.Glu466=)
c.1746G>A (p.Glu582=)
c.1854G>A (p.Glu618=)
c.1818G>A (p.Glu606=)
c.1776G>A (p.Glu592=)
c.1679+4980G>A (n.1679+4980G>A)
c.1872G>A (p.Glu624=)
c.1938G>A (p.Glu646=)
c.1935G>A (p.Glu645=)
c.1908G>A (p.Glu636=)
c.1827G>A (p.Glu609=)
c.1812G>A (p.Glu604=)
c.1419G>A (p.Glu473=)
c.1881G>A (p.Glu627=)
c.1815G>A (p.Glu605=)
c.1773G>A (p.Glu591=)
c.846G>A (p.Glu282=)
 gnomAD v4
20g.63408471T>ACA409640320KCNQ2c.1883A>T (p.Glu628Val)
c.1829A>T (p.Glu610Val)
n.14A>T
c.1226A>T (p.Glu409Val)
c.1736A>T (p.Glu579Val)
c.1397A>T (p.Glu466Val)
c.1745A>T (p.Glu582Val)
c.1853A>T (p.Glu618Val)
c.1817A>T (p.Glu606Val)
c.1775A>T (p.Glu592Val)
c.1679+4979A>T (n.1679+4979A>T)
c.1871A>T (p.Glu624Val)
c.1937A>T (p.Glu646Val)
c.1934A>T (p.Glu645Val)
c.1907A>T (p.Glu636Val)
c.1826A>T (p.Glu609Val)
c.1811A>T (p.Glu604Val)
c.1418A>T (p.Glu473Val)
c.1880A>T (p.Glu627Val)
c.1814A>T (p.Glu605Val)
c.1772A>T (p.Glu591Val)
c.845A>T (p.Glu282Val)
20g.63408471T>CCA409640321KCNQ2c.1883A>G (p.Glu628Gly)
c.1829A>G (p.Glu610Gly)
n.14A>G
c.1226A>G (p.Glu409Gly)
c.1736A>G (p.Glu579Gly)
c.1397A>G (p.Glu466Gly)
c.1745A>G (p.Glu582Gly)
c.1853A>G (p.Glu618Gly)
c.1817A>G (p.Glu606Gly)
c.1775A>G (p.Glu592Gly)
c.1679+4979A>G (n.1679+4979A>G)
c.1871A>G (p.Glu624Gly)
c.1937A>G (p.Glu646Gly)
c.1934A>G (p.Glu645Gly)
c.1907A>G (p.Glu636Gly)
c.1826A>G (p.Glu609Gly)
c.1811A>G (p.Glu604Gly)
c.1418A>G (p.Glu473Gly)
c.1880A>G (p.Glu627Gly)
c.1814A>G (p.Glu605Gly)
c.1772A>G (p.Glu591Gly)
c.845A>G (p.Glu282Gly)
20g.63408471T>GCA409640322KCNQ2c.1883A>C (p.Glu628Ala)
c.1829A>C (p.Glu610Ala)
n.14A>C
c.1226A>C (p.Glu409Ala)
c.1736A>C (p.Glu579Ala)
c.1397A>C (p.Glu466Ala)
c.1745A>C (p.Glu582Ala)
c.1853A>C (p.Glu618Ala)
c.1817A>C (p.Glu606Ala)
c.1775A>C (p.Glu592Ala)
c.1679+4979A>C (n.1679+4979A>C)
c.1871A>C (p.Glu624Ala)
c.1937A>C (p.Glu646Ala)
c.1934A>C (p.Glu645Ala)
c.1907A>C (p.Glu636Ala)
c.1826A>C (p.Glu609Ala)
c.1811A>C (p.Glu604Ala)
c.1418A>C (p.Glu473Ala)
c.1880A>C (p.Glu627Ala)
c.1814A>C (p.Glu605Ala)
c.1772A>C (p.Glu591Ala)
c.845A>C (p.Glu282Ala)
20g.63408472C>ACA409640323KCNQ2c.1882G>T (p.Glu628Ter)
c.1828G>T (p.Glu610Ter)
n.13G>T
c.1225G>T (p.Glu409Ter)
c.1735G>T (p.Glu579Ter)
c.1396G>T (p.Glu466Ter)
c.1744G>T (p.Glu582Ter)
c.1852G>T (p.Glu618Ter)
c.1816G>T (p.Glu606Ter)
c.1774G>T (p.Glu592Ter)
c.1679+4978G>T (n.1679+4978G>T)
c.1870G>T (p.Glu624Ter)
c.1936G>T (p.Glu646Ter)
c.1933G>T (p.Glu645Ter)
c.1906G>T (p.Glu636Ter)
c.1825G>T (p.Glu609Ter)
c.1810G>T (p.Glu604Ter)
c.1417G>T (p.Glu473Ter)
c.1879G>T (p.Glu627Ter)
c.1813G>T (p.Glu605Ter)
c.1771G>T (p.Glu591Ter)
c.844G>T (p.Glu282Ter)
 gnomAD v4
20g.63408472C=CA2374775216KCNQ2c.1882G= (p.Glu628=)
c.1828G= (p.Glu610=)
n.13G=
c.1225G= (p.Glu409=)
c.1735G= (p.Glu579=)
c.1396G= (p.Glu466=)
c.1744G= (p.Glu582=)
c.1852G= (p.Glu618=)
c.1816G= (p.Glu606=)
c.1774G= (p.Glu592=)
c.1679+4978G= (n.1679+4978G=)
c.1870G= (p.Glu624=)
c.1936G= (p.Glu646=)
c.1933G= (p.Glu645=)
c.1906G= (p.Glu636=)
c.1825G= (p.Glu609=)
c.1810G= (p.Glu604=)
c.1417G= (p.Glu473=)
c.1879G= (p.Glu627=)
c.1813G= (p.Glu605=)
c.1771G= (p.Glu591=)
c.844G= (p.Glu282=)
20g.63408472C>GCA409640324KCNQ2c.1882G>C (p.Glu628Gln)
c.1828G>C (p.Glu610Gln)
n.13G>C
c.1225G>C (p.Glu409Gln)
c.1735G>C (p.Glu579Gln)
c.1396G>C (p.Glu466Gln)
c.1744G>C (p.Glu582Gln)
c.1852G>C (p.Glu618Gln)
c.1816G>C (p.Glu606Gln)
c.1774G>C (p.Glu592Gln)
c.1679+4978G>C (n.1679+4978G>C)
c.1870G>C (p.Glu624Gln)
c.1936G>C (p.Glu646Gln)
c.1933G>C (p.Glu645Gln)
c.1906G>C (p.Glu636Gln)
c.1825G>C (p.Glu609Gln)
c.1810G>C (p.Glu604Gln)
c.1417G>C (p.Glu473Gln)
c.1879G>C (p.Glu627Gln)
c.1813G>C (p.Glu605Gln)
c.1771G>C (p.Glu591Gln)
c.844G>C (p.Glu282Gln)
 ClinVar dbSNP
20g.63408472C>TCA409640325KCNQ2c.1882G>A (p.Glu628Lys)
c.1828G>A (p.Glu610Lys)
n.13G>A
c.1225G>A (p.Glu409Lys)
c.1735G>A (p.Glu579Lys)
c.1396G>A (p.Glu466Lys)
c.1744G>A (p.Glu582Lys)
c.1852G>A (p.Glu618Lys)
c.1816G>A (p.Glu606Lys)
c.1774G>A (p.Glu592Lys)
c.1679+4978G>A (n.1679+4978G>A)
c.1870G>A (p.Glu624Lys)
c.1936G>A (p.Glu646Lys)
c.1933G>A (p.Glu645Lys)
c.1906G>A (p.Glu636Lys)
c.1825G>A (p.Glu609Lys)
c.1810G>A (p.Glu604Lys)
c.1417G>A (p.Glu473Lys)
c.1879G>A (p.Glu627Lys)
c.1813G>A (p.Glu605Lys)
c.1771G>A (p.Glu591Lys)
c.844G>A (p.Glu282Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408473G>ACA291806KCNQ2c.1881C>T (p.Ala627=)
c.1827C>T (p.Ala609=)
n.12C>T
c.1224C>T (p.Ala408=)
c.1734C>T (p.Ala578=)
c.1395C>T (p.Ala465=)
c.1743C>T (p.Ala581=)
c.1851C>T (p.Ala617=)
c.1815C>T (p.Ala605=)
c.1773C>T (p.Ala591=)
c.1679+4977C>T (n.1679+4977C>T)
c.1869C>T (p.Ala623=)
c.1935C>T (p.Ala645=)
c.1932C>T (p.Ala644=)
c.1905C>T (p.Ala635=)
c.1824C>T (p.Ala608=)
c.1809C>T (p.Ala603=)
c.1416C>T (p.Ala472=)
c.1878C>T (p.Ala626=)
c.1812C>T (p.Ala604=)
c.1770C>T (p.Ala590=)
c.843C>T (p.Ala281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408473G>CCA511203561KCNQ2c.1881C>G (p.Ala627=)
c.1827C>G (p.Ala609=)
n.12C>G
c.1224C>G (p.Ala408=)
c.1734C>G (p.Ala578=)
c.1395C>G (p.Ala465=)
c.1743C>G (p.Ala581=)
c.1851C>G (p.Ala617=)
c.1815C>G (p.Ala605=)
c.1773C>G (p.Ala591=)
c.1679+4977C>G (n.1679+4977C>G)
c.1869C>G (p.Ala623=)
c.1935C>G (p.Ala645=)
c.1932C>G (p.Ala644=)
c.1905C>G (p.Ala635=)
c.1824C>G (p.Ala608=)
c.1809C>G (p.Ala603=)
c.1416C>G (p.Ala472=)
c.1878C>G (p.Ala626=)
c.1812C>G (p.Ala604=)
c.1770C>G (p.Ala590=)
c.843C>G (p.Ala281=)
 ClinVar
20g.63408473G=CA2374775217KCNQ2c.1881C= (p.Ala627=)
c.1827C= (p.Ala609=)
n.12C=
c.1224C= (p.Ala408=)
c.1734C= (p.Ala578=)
c.1395C= (p.Ala465=)
c.1743C= (p.Ala581=)
c.1851C= (p.Ala617=)
c.1815C= (p.Ala605=)
c.1773C= (p.Ala591=)
c.1679+4977C= (n.1679+4977C=)
c.1869C= (p.Ala623=)
c.1935C= (p.Ala645=)
c.1932C= (p.Ala644=)
c.1905C= (p.Ala635=)
c.1824C= (p.Ala608=)
c.1809C= (p.Ala603=)
c.1416C= (p.Ala472=)
c.1878C= (p.Ala626=)
c.1812C= (p.Ala604=)
c.1770C= (p.Ala590=)
c.843C= (p.Ala281=)
20g.63408473G>TCA511203560KCNQ2c.1881C>A (p.Ala627=)
c.1827C>A (p.Ala609=)
n.12C>A
c.1224C>A (p.Ala408=)
c.1734C>A (p.Ala578=)
c.1395C>A (p.Ala465=)
c.1743C>A (p.Ala581=)
c.1851C>A (p.Ala617=)
c.1815C>A (p.Ala605=)
c.1773C>A (p.Ala591=)
c.1679+4977C>A (n.1679+4977C>A)
c.1869C>A (p.Ala623=)
c.1935C>A (p.Ala645=)
c.1932C>A (p.Ala644=)
c.1905C>A (p.Ala635=)
c.1824C>A (p.Ala608=)
c.1809C>A (p.Ala603=)
c.1416C>A (p.Ala472=)
c.1878C>A (p.Ala626=)
c.1812C>A (p.Ala604=)
c.1770C>A (p.Ala590=)
c.843C>A (p.Ala281=)
 gnomAD v4
20g.63408474G>ACA409640326KCNQ2c.1880C>T (p.Ala627Val)
c.1826C>T (p.Ala609Val)
n.11C>T
c.1223C>T (p.Ala408Val)
c.1733C>T (p.Ala578Val)
c.1394C>T (p.Ala465Val)
c.1742C>T (p.Ala581Val)
c.1850C>T (p.Ala617Val)
c.1814C>T (p.Ala605Val)
c.1772C>T (p.Ala591Val)
c.1679+4976C>T (n.1679+4976C>T)
c.1868C>T (p.Ala623Val)
c.1934C>T (p.Ala645Val)
c.1931C>T (p.Ala644Val)
c.1904C>T (p.Ala635Val)
c.1823C>T (p.Ala608Val)
c.1808C>T (p.Ala603Val)
c.1415C>T (p.Ala472Val)
c.1877C>T (p.Ala626Val)
c.1811C>T (p.Ala604Val)
c.1769C>T (p.Ala590Val)
c.842C>T (p.Ala281Val)
 gnomAD v4
20g.63408474G>CCA409640327KCNQ2c.1880C>G (p.Ala627Gly)
c.1826C>G (p.Ala609Gly)
n.11C>G
c.1223C>G (p.Ala408Gly)
c.1733C>G (p.Ala578Gly)
c.1394C>G (p.Ala465Gly)
c.1742C>G (p.Ala581Gly)
c.1850C>G (p.Ala617Gly)
c.1814C>G (p.Ala605Gly)
c.1772C>G (p.Ala591Gly)
c.1679+4976C>G (n.1679+4976C>G)
c.1868C>G (p.Ala623Gly)
c.1934C>G (p.Ala645Gly)
c.1931C>G (p.Ala644Gly)
c.1904C>G (p.Ala635Gly)
c.1823C>G (p.Ala608Gly)
c.1808C>G (p.Ala603Gly)
c.1415C>G (p.Ala472Gly)
c.1877C>G (p.Ala626Gly)
c.1811C>G (p.Ala604Gly)
c.1769C>G (p.Ala590Gly)
c.842C>G (p.Ala281Gly)
20g.63408474G>TCA409640328KCNQ2c.1880C>A (p.Ala627Asp)
c.1826C>A (p.Ala609Asp)
n.11C>A
c.1223C>A (p.Ala408Asp)
c.1733C>A (p.Ala578Asp)
c.1394C>A (p.Ala465Asp)
c.1742C>A (p.Ala581Asp)
c.1850C>A (p.Ala617Asp)
c.1814C>A (p.Ala605Asp)
c.1772C>A (p.Ala591Asp)
c.1679+4976C>A (n.1679+4976C>A)
c.1868C>A (p.Ala623Asp)
c.1934C>A (p.Ala645Asp)
c.1931C>A (p.Ala644Asp)
c.1904C>A (p.Ala635Asp)
c.1823C>A (p.Ala608Asp)
c.1808C>A (p.Ala603Asp)
c.1415C>A (p.Ala472Asp)
c.1877C>A (p.Ala626Asp)
c.1811C>A (p.Ala604Asp)
c.1769C>A (p.Ala590Asp)
c.842C>A (p.Ala281Asp)
 gnomAD v4
20g.63408475C>ACA409640331KCNQ2c.1879G>T (p.Ala627Ser)
c.1825G>T (p.Ala609Ser)
c.151G>T
n.10G>T
c.1222G>T (p.Ala408Ser)
c.1732G>T (p.Ala578Ser)
c.1393G>T (p.Ala465Ser)
c.1741G>T (p.Ala581Ser)
c.1849G>T (p.Ala617Ser)
c.1813G>T (p.Ala605Ser)
c.1771G>T (p.Ala591Ser)
c.1679+4975G>T (n.1679+4975G>T)
c.1867G>T (p.Ala623Ser)
c.1933G>T (p.Ala645Ser)
c.1930G>T (p.Ala644Ser)
c.1903G>T (p.Ala635Ser)
c.1822G>T (p.Ala608Ser)
c.1807G>T (p.Ala603Ser)
c.1414G>T (p.Ala472Ser)
c.1876G>T (p.Ala626Ser)
c.1810G>T (p.Ala604Ser)
c.1768G>T (p.Ala590Ser)
c.841G>T (p.Ala281Ser)
 gnomAD v4
20g.63408475C>GCA409640329KCNQ2c.1879G>C (p.Ala627Pro)
c.1825G>C (p.Ala609Pro)
c.151G>C
n.10G>C
c.1222G>C (p.Ala408Pro)
c.1732G>C (p.Ala578Pro)
c.1393G>C (p.Ala465Pro)
c.1741G>C (p.Ala581Pro)
c.1849G>C (p.Ala617Pro)
c.1813G>C (p.Ala605Pro)
c.1771G>C (p.Ala591Pro)
c.1679+4975G>C (n.1679+4975G>C)
c.1867G>C (p.Ala623Pro)
c.1933G>C (p.Ala645Pro)
c.1930G>C (p.Ala644Pro)
c.1903G>C (p.Ala635Pro)
c.1822G>C (p.Ala608Pro)
c.1807G>C (p.Ala603Pro)
c.1414G>C (p.Ala472Pro)
c.1876G>C (p.Ala626Pro)
c.1810G>C (p.Ala604Pro)
c.1768G>C (p.Ala590Pro)
c.841G>C (p.Ala281Pro)
20g.63408475C>TCA409640330KCNQ2c.1879G>A (p.Ala627Thr)
c.1825G>A (p.Ala609Thr)
c.151G>A
n.10G>A
c.1222G>A (p.Ala408Thr)
c.1732G>A (p.Ala578Thr)
c.1393G>A (p.Ala465Thr)
c.1741G>A (p.Ala581Thr)
c.1849G>A (p.Ala617Thr)
c.1813G>A (p.Ala605Thr)
c.1771G>A (p.Ala591Thr)
c.1679+4975G>A (n.1679+4975G>A)
c.1867G>A (p.Ala623Thr)
c.1933G>A (p.Ala645Thr)
c.1930G>A (p.Ala644Thr)
c.1903G>A (p.Ala635Thr)
c.1822G>A (p.Ala608Thr)
c.1807G>A (p.Ala603Thr)
c.1414G>A (p.Ala472Thr)
c.1876G>A (p.Ala626Thr)
c.1810G>A (p.Ala604Thr)
c.1768G>A (p.Ala590Thr)
c.841G>A (p.Ala281Thr)
20g.63408476C>ACA511203563KCNQ2c.1878G>T (p.Pro626=)
c.1824G>T (p.Pro608=)
c.150G>T
n.9G>T
c.1221G>T (p.Pro407=)
c.1731G>T (p.Pro577=)
c.1392G>T (p.Pro464=)
c.1740G>T (p.Pro580=)
c.1848G>T (p.Pro616=)
c.1812G>T (p.Pro604=)
c.1770G>T (p.Pro590=)
c.1679+4974G>T (n.1679+4974G>T)
c.1866G>T (p.Pro622=)
c.1932G>T (p.Pro644=)
c.1929G>T (p.Pro643=)
c.1902G>T (p.Pro634=)
c.1821G>T (p.Pro607=)
c.1806G>T (p.Pro602=)
c.1413G>T (p.Pro471=)
c.1875G>T (p.Pro625=)
c.1809G>T (p.Pro603=)
c.1767G>T (p.Pro589=)
c.840G>T (p.Pro280=)
20g.63408476C=CA2374775218KCNQ2c.1878G= (p.Pro626=)
c.1824G= (p.Pro608=)
c.150G=
n.9G=
c.1221G= (p.Pro407=)
c.1731G= (p.Pro577=)
c.1392G= (p.Pro464=)
c.1740G= (p.Pro580=)
c.1848G= (p.Pro616=)
c.1812G= (p.Pro604=)
c.1770G= (p.Pro590=)
c.1679+4974G= (n.1679+4974G=)
c.1866G= (p.Pro622=)
c.1932G= (p.Pro644=)
c.1929G= (p.Pro643=)
c.1902G= (p.Pro634=)
c.1821G= (p.Pro607=)
c.1806G= (p.Pro602=)
c.1413G= (p.Pro471=)
c.1875G= (p.Pro625=)
c.1809G= (p.Pro603=)
c.1767G= (p.Pro589=)
c.840G= (p.Pro280=)
20g.63408476C>GCA511203562KCNQ2c.1878G>C (p.Pro626=)
c.1824G>C (p.Pro608=)
c.150G>C
n.9G>C
c.1221G>C (p.Pro407=)
c.1731G>C (p.Pro577=)
c.1392G>C (p.Pro464=)
c.1740G>C (p.Pro580=)
c.1848G>C (p.Pro616=)
c.1812G>C (p.Pro604=)
c.1770G>C (p.Pro590=)
c.1679+4974G>C (n.1679+4974G>C)
c.1866G>C (p.Pro622=)
c.1932G>C (p.Pro644=)
c.1929G>C (p.Pro643=)
c.1902G>C (p.Pro634=)
c.1821G>C (p.Pro607=)
c.1806G>C (p.Pro602=)
c.1413G>C (p.Pro471=)
c.1875G>C (p.Pro625=)
c.1809G>C (p.Pro603=)
c.1767G>C (p.Pro589=)
c.840G>C (p.Pro280=)
 dbSNP gnomAD v2 gnomAD v4
20g.63408476C>TCA9958236KCNQ2c.1878G>A (p.Pro626=)
c.1824G>A (p.Pro608=)
c.150G>A
n.9G>A
c.1221G>A (p.Pro407=)
c.1731G>A (p.Pro577=)
c.1392G>A (p.Pro464=)
c.1740G>A (p.Pro580=)
c.1848G>A (p.Pro616=)
c.1812G>A (p.Pro604=)
c.1770G>A (p.Pro590=)
c.1679+4974G>A (n.1679+4974G>A)
c.1866G>A (p.Pro622=)
c.1932G>A (p.Pro644=)
c.1929G>A (p.Pro643=)
c.1902G>A (p.Pro634=)
c.1821G>A (p.Pro607=)
c.1806G>A (p.Pro602=)
c.1413G>A (p.Pro471=)
c.1875G>A (p.Pro625=)
c.1809G>A (p.Pro603=)
c.1767G>A (p.Pro589=)
c.840G>A (p.Pro280=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408477G>ACA9958237KCNQ2c.1877C>T (p.Pro626Leu)
c.1823C>T (p.Pro608Leu)
c.149C>T
n.8C>T
c.1220C>T (p.Pro407Leu)
c.1730C>T (p.Pro577Leu)
c.1391C>T (p.Pro464Leu)
c.1739C>T (p.Pro580Leu)
c.1847C>T (p.Pro616Leu)
c.1811C>T (p.Pro604Leu)
c.1769C>T (p.Pro590Leu)
c.1679+4973C>T (n.1679+4973C>T)
c.1865C>T (p.Pro622Leu)
c.1931C>T (p.Pro644Leu)
c.1928C>T (p.Pro643Leu)
c.1901C>T (p.Pro634Leu)
c.1820C>T (p.Pro607Leu)
c.1805C>T (p.Pro602Leu)
c.1412C>T (p.Pro471Leu)
c.1874C>T (p.Pro625Leu)
c.1808C>T (p.Pro603Leu)
c.1766C>T (p.Pro589Leu)
c.839C>T (p.Pro280Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408477G>CCA409640332KCNQ2c.1877C>G (p.Pro626Arg)
c.1823C>G (p.Pro608Arg)
c.149C>G
n.8C>G
c.1220C>G (p.Pro407Arg)
c.1730C>G (p.Pro577Arg)
c.1391C>G (p.Pro464Arg)
c.1739C>G (p.Pro580Arg)
c.1847C>G (p.Pro616Arg)
c.1811C>G (p.Pro604Arg)
c.1769C>G (p.Pro590Arg)
c.1679+4973C>G (n.1679+4973C>G)
c.1865C>G (p.Pro622Arg)
c.1931C>G (p.Pro644Arg)
c.1928C>G (p.Pro643Arg)
c.1901C>G (p.Pro634Arg)
c.1820C>G (p.Pro607Arg)
c.1805C>G (p.Pro602Arg)
c.1412C>G (p.Pro471Arg)
c.1874C>G (p.Pro625Arg)
c.1808C>G (p.Pro603Arg)
c.1766C>G (p.Pro589Arg)
c.839C>G (p.Pro280Arg)
20g.63408477G=CA2374775219KCNQ2c.1877C= (p.Pro626=)
c.1823C= (p.Pro608=)
c.149C=
n.8C=
c.1220C= (p.Pro407=)
c.1730C= (p.Pro577=)
c.1391C= (p.Pro464=)
c.1739C= (p.Pro580=)
c.1847C= (p.Pro616=)
c.1811C= (p.Pro604=)
c.1769C= (p.Pro590=)
c.1679+4973C= (n.1679+4973C=)
c.1865C= (p.Pro622=)
c.1931C= (p.Pro644=)
c.1928C= (p.Pro643=)
c.1901C= (p.Pro634=)
c.1820C= (p.Pro607=)
c.1805C= (p.Pro602=)
c.1412C= (p.Pro471=)
c.1874C= (p.Pro625=)
c.1808C= (p.Pro603=)
c.1766C= (p.Pro589=)
c.839C= (p.Pro280=)
20g.63408477G>TCA409640333KCNQ2c.1877C>A (p.Pro626Gln)
c.1823C>A (p.Pro608Gln)
c.149C>A
n.8C>A
c.1220C>A (p.Pro407Gln)
c.1730C>A (p.Pro577Gln)
c.1391C>A (p.Pro464Gln)
c.1739C>A (p.Pro580Gln)
c.1847C>A (p.Pro616Gln)
c.1811C>A (p.Pro604Gln)
c.1769C>A (p.Pro590Gln)
c.1679+4973C>A (n.1679+4973C>A)
c.1865C>A (p.Pro622Gln)
c.1931C>A (p.Pro644Gln)
c.1928C>A (p.Pro643Gln)
c.1901C>A (p.Pro634Gln)
c.1820C>A (p.Pro607Gln)
c.1805C>A (p.Pro602Gln)
c.1412C>A (p.Pro471Gln)
c.1874C>A (p.Pro625Gln)
c.1808C>A (p.Pro603Gln)
c.1766C>A (p.Pro589Gln)
c.839C>A (p.Pro280Gln)
 ClinVar dbSNP
20g.63408479delCA2573054902KCNQ2c.1877del (p.Pro626ArgfsTer12)
c.1823del (p.Pro608ArgfsTer12)
c.149del
n.8del
c.1220del (p.Pro407ArgfsTer12)
c.1730del (p.Pro577ArgfsTer12)
c.1391del (p.Pro464ArgfsTer12)
c.1739del (p.Pro580ArgfsTer12)
c.1847del (p.Pro616ArgfsTer12)
c.1811del (p.Pro604ArgfsTer12)
c.1769del (p.Pro590ArgfsTer12)
c.1679+4973del (n.1679+4973del)
c.1865del (p.Pro622ArgfsTer12)
c.1931del (p.Pro644ArgfsTer12)
c.1928del (p.Pro643ArgfsTer12)
c.1901del (p.Pro634ArgfsTer12)
c.1820del (p.Pro607ArgfsTer12)
c.1805del (p.Pro602ArgfsTer12)
c.1412del (p.Pro471ArgfsTer12)
c.1874del (p.Pro625ArgfsTer12)
c.1808del (p.Pro603ArgfsTer12)
c.1766del (p.Pro589ArgfsTer12)
c.839del (p.Pro280ArgfsTer12)
 ClinVar dbSNP
20g.63408478G>ACA409640334KCNQ2c.1876C>T (p.Pro626Ser)
c.1822C>T (p.Pro608Ser)
c.148C>T
n.7C>T
c.1219C>T (p.Pro407Ser)
c.1729C>T (p.Pro577Ser)
c.1390C>T (p.Pro464Ser)
c.1738C>T (p.Pro580Ser)
c.1846C>T (p.Pro616Ser)
c.1810C>T (p.Pro604Ser)
c.1768C>T (p.Pro590Ser)
c.1679+4972C>T (n.1679+4972C>T)
c.1864C>T (p.Pro622Ser)
c.1930C>T (p.Pro644Ser)
c.1927C>T (p.Pro643Ser)
c.1900C>T (p.Pro634Ser)
c.1819C>T (p.Pro607Ser)
c.1804C>T (p.Pro602Ser)
c.1411C>T (p.Pro471Ser)
c.1873C>T (p.Pro625Ser)
c.1807C>T (p.Pro603Ser)
c.1765C>T (p.Pro589Ser)
c.838C>T (p.Pro280Ser)
20g.63408478G>CCA9958238KCNQ2c.1876C>G (p.Pro626Ala)
c.1822C>G (p.Pro608Ala)
c.148C>G
n.7C>G
c.1219C>G (p.Pro407Ala)
c.1729C>G (p.Pro577Ala)
c.1390C>G (p.Pro464Ala)
c.1738C>G (p.Pro580Ala)
c.1846C>G (p.Pro616Ala)
c.1810C>G (p.Pro604Ala)
c.1768C>G (p.Pro590Ala)
c.1679+4972C>G (n.1679+4972C>G)
c.1864C>G (p.Pro622Ala)
c.1930C>G (p.Pro644Ala)
c.1927C>G (p.Pro643Ala)
c.1900C>G (p.Pro634Ala)
c.1819C>G (p.Pro607Ala)
c.1804C>G (p.Pro602Ala)
c.1411C>G (p.Pro471Ala)
c.1873C>G (p.Pro625Ala)
c.1807C>G (p.Pro603Ala)
c.1765C>G (p.Pro589Ala)
c.838C>G (p.Pro280Ala)
 dbSNP ExAC gnomAD v2
20g.63408478G=CA2374775220KCNQ2c.1876C= (p.Pro626=)
c.1822C= (p.Pro608=)
c.148C=
n.7C=
c.1219C= (p.Pro407=)
c.1729C= (p.Pro577=)
c.1390C= (p.Pro464=)
c.1738C= (p.Pro580=)
c.1846C= (p.Pro616=)
c.1810C= (p.Pro604=)
c.1768C= (p.Pro590=)
c.1679+4972C= (n.1679+4972C=)
c.1864C= (p.Pro622=)
c.1930C= (p.Pro644=)
c.1927C= (p.Pro643=)
c.1900C= (p.Pro634=)
c.1819C= (p.Pro607=)
c.1804C= (p.Pro602=)
c.1411C= (p.Pro471=)
c.1873C= (p.Pro625=)
c.1807C= (p.Pro603=)
c.1765C= (p.Pro589=)
c.838C= (p.Pro280=)
20g.63408478G>TCA409640335KCNQ2c.1876C>A (p.Pro626Thr)
c.1822C>A (p.Pro608Thr)
c.148C>A
n.7C>A
c.1219C>A (p.Pro407Thr)
c.1729C>A (p.Pro577Thr)
c.1390C>A (p.Pro464Thr)
c.1738C>A (p.Pro580Thr)
c.1846C>A (p.Pro616Thr)
c.1810C>A (p.Pro604Thr)
c.1768C>A (p.Pro590Thr)
c.1679+4972C>A (n.1679+4972C>A)
c.1864C>A (p.Pro622Thr)
c.1930C>A (p.Pro644Thr)
c.1927C>A (p.Pro643Thr)
c.1900C>A (p.Pro634Thr)
c.1819C>A (p.Pro607Thr)
c.1804C>A (p.Pro602Thr)
c.1411C>A (p.Pro471Thr)
c.1873C>A (p.Pro625Thr)
c.1807C>A (p.Pro603Thr)
c.1765C>A (p.Pro589Thr)
c.838C>A (p.Pro280Thr)
20g.63408479G>ACA511203564KCNQ2c.1875C>T (p.Gly625=)
c.1821C>T (p.Gly607=)
c.147C>T
n.6C>T
c.1218C>T (p.Gly406=)
c.1728C>T (p.Gly576=)
c.1389C>T (p.Gly463=)
c.1737C>T (p.Gly579=)
c.1845C>T (p.Gly615=)
c.1809C>T (p.Gly603=)
c.1767C>T (p.Gly589=)
c.1679+4971C>T (n.1679+4971C>T)
c.1863C>T (p.Gly621=)
c.1929C>T (p.Gly643=)
c.1926C>T (p.Gly642=)
c.1899C>T (p.Gly633=)
c.1818C>T (p.Gly606=)
c.1803C>T (p.Gly601=)
c.1410C>T (p.Gly470=)
c.1872C>T (p.Gly624=)
c.1806C>T (p.Gly602=)
c.1764C>T (p.Gly588=)
c.837C>T (p.Gly279=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63408479G>CCA511203566KCNQ2c.1875C>G (p.Gly625=)
c.1821C>G (p.Gly607=)
c.147C>G
n.6C>G
c.1218C>G (p.Gly406=)
c.1728C>G (p.Gly576=)
c.1389C>G (p.Gly463=)
c.1737C>G (p.Gly579=)
c.1845C>G (p.Gly615=)
c.1809C>G (p.Gly603=)
c.1767C>G (p.Gly589=)
c.1679+4971C>G (n.1679+4971C>G)
c.1863C>G (p.Gly621=)
c.1929C>G (p.Gly643=)
c.1926C>G (p.Gly642=)
c.1899C>G (p.Gly633=)
c.1818C>G (p.Gly606=)
c.1803C>G (p.Gly601=)
c.1410C>G (p.Gly470=)
c.1872C>G (p.Gly624=)
c.1806C>G (p.Gly602=)
c.1764C>G (p.Gly588=)
c.837C>G (p.Gly279=)
20g.63408479G=CA2374775221KCNQ2c.1875C= (p.Gly625=)
c.1821C= (p.Gly607=)
c.147C=
n.6C=
c.1218C= (p.Gly406=)
c.1728C= (p.Gly576=)
c.1389C= (p.Gly463=)
c.1737C= (p.Gly579=)
c.1845C= (p.Gly615=)
c.1809C= (p.Gly603=)
c.1767C= (p.Gly589=)
c.1679+4971C= (n.1679+4971C=)
c.1863C= (p.Gly621=)
c.1929C= (p.Gly643=)
c.1926C= (p.Gly642=)
c.1899C= (p.Gly633=)
c.1818C= (p.Gly606=)
c.1803C= (p.Gly601=)
c.1410C= (p.Gly470=)
c.1872C= (p.Gly624=)
c.1806C= (p.Gly602=)
c.1764C= (p.Gly588=)
c.837C= (p.Gly279=)
20g.63408479G>TCA511203565KCNQ2c.1875C>A (p.Gly625=)
c.1821C>A (p.Gly607=)
c.147C>A
n.6C>A
c.1218C>A (p.Gly406=)
c.1728C>A (p.Gly576=)
c.1389C>A (p.Gly463=)
c.1737C>A (p.Gly579=)
c.1845C>A (p.Gly615=)
c.1809C>A (p.Gly603=)
c.1767C>A (p.Gly589=)
c.1679+4971C>A (n.1679+4971C>A)
c.1863C>A (p.Gly621=)
c.1929C>A (p.Gly643=)
c.1926C>A (p.Gly642=)
c.1899C>A (p.Gly633=)
c.1818C>A (p.Gly606=)
c.1803C>A (p.Gly601=)
c.1410C>A (p.Gly470=)
c.1872C>A (p.Gly624=)
c.1806C>A (p.Gly602=)
c.1764C>A (p.Gly588=)
c.837C>A (p.Gly279=)
 gnomAD v4
20g.63408479_63408480delinsGCCA2374775222KCNQ2c.1874_1875delinsGC (p.Gly625=)
c.1820_1821delinsGC (p.Gly607=)
c.146_147delinsGC
n.5_6delinsGC
c.1217_1218delinsGC (p.Gly406=)
c.1727_1728delinsGC (p.Gly576=)
c.1388_1389delinsGC (p.Gly463=)
c.1736_1737delinsGC (p.Gly579=)
c.1844_1845delinsGC (p.Gly615=)
c.1808_1809delinsGC (p.Gly603=)
c.1766_1767delinsGC (p.Gly589=)
c.1679+4970_1679+4971delinsGC (n.1679+4970_1679+4971delinsGC)
c.1862_1863delinsGC (p.Gly621=)
c.1928_1929delinsGC (p.Gly643=)
c.1925_1926delinsGC (p.Gly642=)
c.1898_1899delinsGC (p.Gly633=)
c.1817_1818delinsGC (p.Gly606=)
c.1802_1803delinsGC (p.Gly601=)
c.1409_1410delinsGC (p.Gly470=)
c.1871_1872delinsGC (p.Gly624=)
c.1805_1806delinsGC (p.Gly602=)
c.1763_1764delinsGC (p.Gly588=)
c.836_837delinsGC (p.Gly279=)
20g.63408480C>ACA409640336KCNQ2c.1874G>T (p.Gly625Val)
c.1820G>T (p.Gly607Val)
c.146G>T
n.5G>T
c.1217G>T (p.Gly406Val)
c.1727G>T (p.Gly576Val)
c.1388G>T (p.Gly463Val)
c.1736G>T (p.Gly579Val)
c.1844G>T (p.Gly615Val)
c.1808G>T (p.Gly603Val)
c.1766G>T (p.Gly589Val)
c.1679+4970G>T (n.1679+4970G>T)
c.1862G>T (p.Gly621Val)
c.1928G>T (p.Gly643Val)
c.1925G>T (p.Gly642Val)
c.1898G>T (p.Gly633Val)
c.1817G>T (p.Gly606Val)
c.1802G>T (p.Gly601Val)
c.1409G>T (p.Gly470Val)
c.1871G>T (p.Gly624Val)
c.1805G>T (p.Gly602Val)
c.1763G>T (p.Gly588Val)
c.836G>T (p.Gly279Val)
 dbSNP gnomAD v4
20g.63408480C=CA2374775223KCNQ2c.1874G= (p.Gly625=)
c.1820G= (p.Gly607=)
c.146G=
n.5G=
c.1217G= (p.Gly406=)
c.1727G= (p.Gly576=)
c.1388G= (p.Gly463=)
c.1736G= (p.Gly579=)
c.1844G= (p.Gly615=)
c.1808G= (p.Gly603=)
c.1766G= (p.Gly589=)
c.1679+4970G= (n.1679+4970G=)
c.1862G= (p.Gly621=)
c.1928G= (p.Gly643=)
c.1925G= (p.Gly642=)
c.1898G= (p.Gly633=)
c.1817G= (p.Gly606=)
c.1802G= (p.Gly601=)
c.1409G= (p.Gly470=)
c.1871G= (p.Gly624=)
c.1805G= (p.Gly602=)
c.1763G= (p.Gly588=)
c.836G= (p.Gly279=)
20g.63408480C>GCA409640337KCNQ2c.1874G>C (p.Gly625Ala)
c.1820G>C (p.Gly607Ala)
c.146G>C
n.5G>C
c.1217G>C (p.Gly406Ala)
c.1727G>C (p.Gly576Ala)
c.1388G>C (p.Gly463Ala)
c.1736G>C (p.Gly579Ala)
c.1844G>C (p.Gly615Ala)
c.1808G>C (p.Gly603Ala)
c.1766G>C (p.Gly589Ala)
c.1679+4970G>C (n.1679+4970G>C)
c.1862G>C (p.Gly621Ala)
c.1928G>C (p.Gly643Ala)
c.1925G>C (p.Gly642Ala)
c.1898G>C (p.Gly633Ala)
c.1817G>C (p.Gly606Ala)
c.1802G>C (p.Gly601Ala)
c.1409G>C (p.Gly470Ala)
c.1871G>C (p.Gly624Ala)
c.1805G>C (p.Gly602Ala)
c.1763G>C (p.Gly588Ala)
c.836G>C (p.Gly279Ala)
20g.63408480C>TCA409640338KCNQ2c.1874G>A (p.Gly625Asp)
c.1820G>A (p.Gly607Asp)
c.146G>A
n.5G>A
c.1217G>A (p.Gly406Asp)
c.1727G>A (p.Gly576Asp)
c.1388G>A (p.Gly463Asp)
c.1736G>A (p.Gly579Asp)
c.1844G>A (p.Gly615Asp)
c.1808G>A (p.Gly603Asp)
c.1766G>A (p.Gly589Asp)
c.1679+4970G>A (n.1679+4970G>A)
c.1862G>A (p.Gly621Asp)
c.1928G>A (p.Gly643Asp)
c.1925G>A (p.Gly642Asp)
c.1898G>A (p.Gly633Asp)
c.1817G>A (p.Gly606Asp)
c.1802G>A (p.Gly601Asp)
c.1409G>A (p.Gly470Asp)
c.1871G>A (p.Gly624Asp)
c.1805G>A (p.Gly602Asp)
c.1763G>A (p.Gly588Asp)
c.836G>A (p.Gly279Asp)
20g.63408482delCA658799398KCNQ2c.1874del (p.Gly625AlafsTer13)
c.1820del (p.Gly607AlafsTer13)
c.146del
n.5del
c.1217del (p.Gly406AlafsTer13)
c.1727del (p.Gly576AlafsTer13)
c.1388del (p.Gly463AlafsTer13)
c.1736del (p.Gly579AlafsTer13)
c.1844del (p.Gly615AlafsTer13)
c.1808del (p.Gly603AlafsTer13)
c.1766del (p.Gly589AlafsTer13)
c.1679+4970del (n.1679+4970del)
c.1862del (p.Gly621AlafsTer13)
c.1928del (p.Gly643AlafsTer13)
c.1925del (p.Gly642AlafsTer13)
c.1898del (p.Gly633AlafsTer13)
c.1817del (p.Gly606AlafsTer13)
c.1802del (p.Gly601AlafsTer13)
c.1409del (p.Gly470AlafsTer13)
c.1871del (p.Gly624AlafsTer13)
c.1805del (p.Gly602AlafsTer13)
c.1763del (p.Gly588AlafsTer13)
c.836del (p.Gly279AlafsTer13)
 ClinVar dbSNP
20g.63408481C>ACA409640341KCNQ2c.1873G>T (p.Gly625Cys)
c.1819G>T (p.Gly607Cys)
c.145G>T
n.4G>T
c.1216G>T (p.Gly406Cys)
c.1726G>T (p.Gly576Cys)
c.1387G>T (p.Gly463Cys)
c.1735G>T (p.Gly579Cys)
c.1843G>T (p.Gly615Cys)
c.1807G>T (p.Gly603Cys)
c.1765G>T (p.Gly589Cys)
c.1679+4969G>T (n.1679+4969G>T)
c.1861G>T (p.Gly621Cys)
c.1927G>T (p.Gly643Cys)
c.1924G>T (p.Gly642Cys)
c.1897G>T (p.Gly633Cys)
c.1816G>T (p.Gly606Cys)
c.1801G>T (p.Gly601Cys)
c.1408G>T (p.Gly470Cys)
c.1870G>T (p.Gly624Cys)
c.1804G>T (p.Gly602Cys)
c.1762G>T (p.Gly588Cys)
c.835G>T (p.Gly279Cys)
 ClinVar dbSNP
20g.63408481C=CA2374775224KCNQ2c.1873G= (p.Gly625=)
c.1819G= (p.Gly607=)
c.145G=
n.4G=
c.1216G= (p.Gly406=)
c.1726G= (p.Gly576=)
c.1387G= (p.Gly463=)
c.1735G= (p.Gly579=)
c.1843G= (p.Gly615=)
c.1807G= (p.Gly603=)
c.1765G= (p.Gly589=)
c.1679+4969G= (n.1679+4969G=)
c.1861G= (p.Gly621=)
c.1927G= (p.Gly643=)
c.1924G= (p.Gly642=)
c.1897G= (p.Gly633=)
c.1816G= (p.Gly606=)
c.1801G= (p.Gly601=)
c.1408G= (p.Gly470=)
c.1870G= (p.Gly624=)
c.1804G= (p.Gly602=)
c.1762G= (p.Gly588=)
c.835G= (p.Gly279=)
20g.63408481C>GCA409640340KCNQ2c.1873G>C (p.Gly625Arg)
c.1819G>C (p.Gly607Arg)
c.145G>C
n.4G>C
c.1216G>C (p.Gly406Arg)
c.1726G>C (p.Gly576Arg)
c.1387G>C (p.Gly463Arg)
c.1735G>C (p.Gly579Arg)
c.1843G>C (p.Gly615Arg)
c.1807G>C (p.Gly603Arg)
c.1765G>C (p.Gly589Arg)
c.1679+4969G>C (n.1679+4969G>C)
c.1861G>C (p.Gly621Arg)
c.1927G>C (p.Gly643Arg)
c.1924G>C (p.Gly642Arg)
c.1897G>C (p.Gly633Arg)
c.1816G>C (p.Gly606Arg)
c.1801G>C (p.Gly601Arg)
c.1408G>C (p.Gly470Arg)
c.1870G>C (p.Gly624Arg)
c.1804G>C (p.Gly602Arg)
c.1762G>C (p.Gly588Arg)
c.835G>C (p.Gly279Arg)
20g.63408481C>TCA409640339KCNQ2c.1873G>A (p.Gly625Ser)
c.1819G>A (p.Gly607Ser)
c.145G>A
n.4G>A
c.1216G>A (p.Gly406Ser)
c.1726G>A (p.Gly576Ser)
c.1387G>A (p.Gly463Ser)
c.1735G>A (p.Gly579Ser)
c.1843G>A (p.Gly615Ser)
c.1807G>A (p.Gly603Ser)
c.1765G>A (p.Gly589Ser)
c.1679+4969G>A (n.1679+4969G>A)
c.1861G>A (p.Gly621Ser)
c.1927G>A (p.Gly643Ser)
c.1924G>A (p.Gly642Ser)
c.1897G>A (p.Gly633Ser)
c.1816G>A (p.Gly606Ser)
c.1801G>A (p.Gly601Ser)
c.1408G>A (p.Gly470Ser)
c.1870G>A (p.Gly624Ser)
c.1804G>A (p.Gly602Ser)
c.1762G>A (p.Gly588Ser)
c.835G>A (p.Gly279Ser)
 gnomAD v4
20g.63408482C>ACA409640342KCNQ2c.1872G>T (p.Lys624Asn)
c.1818G>T (p.Lys606Asn)
c.144G>T
n.3G>T
c.1215G>T (p.Lys405Asn)
c.1725G>T (p.Lys575Asn)
c.1386G>T (p.Lys462Asn)
c.1734G>T (p.Lys578Asn)
c.1842G>T (p.Lys614Asn)
c.1806G>T (p.Lys602Asn)
c.1764G>T (p.Lys588Asn)
c.1679+4968G>T (n.1679+4968G>T)
c.1860G>T (p.Lys620Asn)
c.1926G>T (p.Lys642Asn)
c.1923G>T (p.Lys641Asn)
c.1896G>T (p.Lys632Asn)
c.1815G>T (p.Lys605Asn)
c.1800G>T (p.Lys600Asn)
c.1407G>T (p.Lys469Asn)
c.1869G>T (p.Lys623Asn)
c.1803G>T (p.Lys601Asn)
c.1761G>T (p.Lys587Asn)
c.834G>T (p.Lys278Asn)
20g.63408482C>GCA409640343KCNQ2c.1872G>C (p.Lys624Asn)
c.1818G>C (p.Lys606Asn)
c.144G>C
n.3G>C
c.1215G>C (p.Lys405Asn)
c.1725G>C (p.Lys575Asn)
c.1386G>C (p.Lys462Asn)
c.1734G>C (p.Lys578Asn)
c.1842G>C (p.Lys614Asn)
c.1806G>C (p.Lys602Asn)
c.1764G>C (p.Lys588Asn)
c.1679+4968G>C (n.1679+4968G>C)
c.1860G>C (p.Lys620Asn)
c.1926G>C (p.Lys642Asn)
c.1923G>C (p.Lys641Asn)
c.1896G>C (p.Lys632Asn)
c.1815G>C (p.Lys605Asn)
c.1800G>C (p.Lys600Asn)
c.1407G>C (p.Lys469Asn)
c.1869G>C (p.Lys623Asn)
c.1803G>C (p.Lys601Asn)
c.1761G>C (p.Lys587Asn)
c.834G>C (p.Lys278Asn)
20g.63408482C>TCA511203567KCNQ2c.1872G>A (p.Lys624=)
c.1818G>A (p.Lys606=)
c.144G>A
n.3G>A
c.1215G>A (p.Lys405=)
c.1725G>A (p.Lys575=)
c.1386G>A (p.Lys462=)
c.1734G>A (p.Lys578=)
c.1842G>A (p.Lys614=)
c.1806G>A (p.Lys602=)
c.1764G>A (p.Lys588=)
c.1679+4968G>A (n.1679+4968G>A)
c.1860G>A (p.Lys620=)
c.1926G>A (p.Lys642=)
c.1923G>A (p.Lys641=)
c.1896G>A (p.Lys632=)
c.1815G>A (p.Lys605=)
c.1800G>A (p.Lys600=)
c.1407G>A (p.Lys469=)
c.1869G>A (p.Lys623=)
c.1803G>A (p.Lys601=)
c.1761G>A (p.Lys587=)
c.834G>A (p.Lys278=)
20g.63408483T>ACA409640344KCNQ2c.1871A>T (p.Lys624Met)
c.1817A>T (p.Lys606Met)
c.143A>T
n.2A>T
c.1214A>T (p.Lys405Met)
c.1724A>T (p.Lys575Met)
c.1385A>T (p.Lys462Met)
c.1733A>T (p.Lys578Met)
c.1841A>T (p.Lys614Met)
c.1805A>T (p.Lys602Met)
c.1763A>T (p.Lys588Met)
c.1679+4967A>T (n.1679+4967A>T)
c.1859A>T (p.Lys620Met)
c.1925A>T (p.Lys642Met)
c.1922A>T (p.Lys641Met)
c.1895A>T (p.Lys632Met)
c.1814A>T (p.Lys605Met)
c.1799A>T (p.Lys600Met)
c.1406A>T (p.Lys469Met)
c.1868A>T (p.Lys623Met)
c.1802A>T (p.Lys601Met)
c.1760A>T (p.Lys587Met)
c.833A>T (p.Lys278Met)
20g.63408483T>CCA409640345KCNQ2c.1871A>G (p.Lys624Arg)
c.1817A>G (p.Lys606Arg)
c.143A>G
n.2A>G
c.1214A>G (p.Lys405Arg)
c.1724A>G (p.Lys575Arg)
c.1385A>G (p.Lys462Arg)
c.1733A>G (p.Lys578Arg)
c.1841A>G (p.Lys614Arg)
c.1805A>G (p.Lys602Arg)
c.1763A>G (p.Lys588Arg)
c.1679+4967A>G (n.1679+4967A>G)
c.1859A>G (p.Lys620Arg)
c.1925A>G (p.Lys642Arg)
c.1922A>G (p.Lys641Arg)
c.1895A>G (p.Lys632Arg)
c.1814A>G (p.Lys605Arg)
c.1799A>G (p.Lys600Arg)
c.1406A>G (p.Lys469Arg)
c.1868A>G (p.Lys623Arg)
c.1802A>G (p.Lys601Arg)
c.1760A>G (p.Lys587Arg)
c.833A>G (p.Lys278Arg)
 gnomAD v4
20g.63408483T>GCA409640346KCNQ2c.1871A>C (p.Lys624Thr)
c.1817A>C (p.Lys606Thr)
c.143A>C
n.2A>C
c.1214A>C (p.Lys405Thr)
c.1724A>C (p.Lys575Thr)
c.1385A>C (p.Lys462Thr)
c.1733A>C (p.Lys578Thr)
c.1841A>C (p.Lys614Thr)
c.1805A>C (p.Lys602Thr)
c.1763A>C (p.Lys588Thr)
c.1679+4967A>C (n.1679+4967A>C)
c.1859A>C (p.Lys620Thr)
c.1925A>C (p.Lys642Thr)
c.1922A>C (p.Lys641Thr)
c.1895A>C (p.Lys632Thr)
c.1814A>C (p.Lys605Thr)
c.1799A>C (p.Lys600Thr)
c.1406A>C (p.Lys469Thr)
c.1868A>C (p.Lys623Thr)
c.1802A>C (p.Lys601Thr)
c.1760A>C (p.Lys587Thr)
c.833A>C (p.Lys278Thr)
20g.63408484T>ACA409640349KCNQ2c.1870A>T (p.Lys624Ter)
c.1816A>T (p.Lys606Ter)
c.142A>T
n.1A>T
c.1213A>T (p.Lys405Ter)
c.1723A>T (p.Lys575Ter)
c.1384A>T (p.Lys462Ter)
c.1732A>T (p.Lys578Ter)
c.1840A>T (p.Lys614Ter)
c.1804A>T (p.Lys602Ter)
c.1762A>T (p.Lys588Ter)
c.1679+4966A>T (n.1679+4966A>T)
c.1858A>T (p.Lys620Ter)
c.1924A>T (p.Lys642Ter)
c.1921A>T (p.Lys641Ter)
c.1894A>T (p.Lys632Ter)
c.1813A>T (p.Lys605Ter)
c.1798A>T (p.Lys600Ter)
c.1405A>T (p.Lys469Ter)
c.1867A>T (p.Lys623Ter)
c.1801A>T (p.Lys601Ter)
c.1759A>T (p.Lys587Ter)
c.832A>T (p.Lys278Ter)
 ClinVar dbSNP
20g.63408484T>CCA409640348KCNQ2c.1870A>G (p.Lys624Glu)
c.1816A>G (p.Lys606Glu)
c.142A>G
n.1A>G
c.1213A>G (p.Lys405Glu)
c.1723A>G (p.Lys575Glu)
c.1384A>G (p.Lys462Glu)
c.1732A>G (p.Lys578Glu)
c.1840A>G (p.Lys614Glu)
c.1804A>G (p.Lys602Glu)
c.1762A>G (p.Lys588Glu)
c.1679+4966A>G (n.1679+4966A>G)
c.1858A>G (p.Lys620Glu)
c.1924A>G (p.Lys642Glu)
c.1921A>G (p.Lys641Glu)
c.1894A>G (p.Lys632Glu)
c.1813A>G (p.Lys605Glu)
c.1798A>G (p.Lys600Glu)
c.1405A>G (p.Lys469Glu)
c.1867A>G (p.Lys623Glu)
c.1801A>G (p.Lys601Glu)
c.1759A>G (p.Lys587Glu)
c.832A>G (p.Lys278Glu)
20g.63408484T>GCA409640347KCNQ2c.1870A>C (p.Lys624Gln)
c.1816A>C (p.Lys606Gln)
c.142A>C
n.1A>C
c.1213A>C (p.Lys405Gln)
c.1723A>C (p.Lys575Gln)
c.1384A>C (p.Lys462Gln)
c.1732A>C (p.Lys578Gln)
c.1840A>C (p.Lys614Gln)
c.1804A>C (p.Lys602Gln)
c.1762A>C (p.Lys588Gln)
c.1679+4966A>C (n.1679+4966A>C)
c.1858A>C (p.Lys620Gln)
c.1924A>C (p.Lys642Gln)
c.1921A>C (p.Lys641Gln)
c.1894A>C (p.Lys632Gln)
c.1813A>C (p.Lys605Gln)
c.1798A>C (p.Lys600Gln)
c.1405A>C (p.Lys469Gln)
c.1867A>C (p.Lys623Gln)
c.1801A>C (p.Lys601Gln)
c.1759A>C (p.Lys587Gln)
c.832A>C (p.Lys278Gln)
20g.63408484T=CA2374775225KCNQ2c.1870A= (p.Lys624=)
c.1816A= (p.Lys606=)
c.142A=
n.1A=
c.1213A= (p.Lys405=)
c.1723A= (p.Lys575=)
c.1384A= (p.Lys462=)
c.1732A= (p.Lys578=)
c.1840A= (p.Lys614=)
c.1804A= (p.Lys602=)
c.1762A= (p.Lys588=)
c.1679+4966A= (n.1679+4966A=)
c.1858A= (p.Lys620=)
c.1924A= (p.Lys642=)
c.1921A= (p.Lys641=)
c.1894A= (p.Lys632=)
c.1813A= (p.Lys605=)
c.1798A= (p.Lys600=)
c.1405A= (p.Lys469=)
c.1867A= (p.Lys623=)
c.1801A= (p.Lys601=)
c.1759A= (p.Lys587=)
c.832A= (p.Lys278=)
20g.63408485G>ACA511203568KCNQ2c.1869C>T (p.Thr623=)
c.1815C>T (p.Thr605=)
c.141C>T
c.1212C>T (p.Thr404=)
c.1722C>T (p.Thr574=)
c.1383C>T (p.Thr461=)
c.1731C>T (p.Thr577=)
c.1839C>T (p.Thr613=)
c.1803C>T (p.Thr601=)
c.1761C>T (p.Thr587=)
c.1679+4965C>T (n.1679+4965C>T)
c.1857C>T (p.Thr619=)
c.1923C>T (p.Thr641=)
c.1920C>T (p.Thr640=)
c.1893C>T (p.Thr631=)
c.1812C>T (p.Thr604=)
c.1797C>T (p.Thr599=)
c.1404C>T (p.Thr468=)
c.1866C>T (p.Thr622=)
c.1800C>T (p.Thr600=)
c.1758C>T (p.Thr586=)
c.831C>T (p.Thr277=)
 gnomAD v4
20g.63408485G>CCA511203569KCNQ2c.1869C>G (p.Thr623=)
c.1815C>G (p.Thr605=)
c.141C>G
c.1212C>G (p.Thr404=)
c.1722C>G (p.Thr574=)
c.1383C>G (p.Thr461=)
c.1731C>G (p.Thr577=)
c.1839C>G (p.Thr613=)
c.1803C>G (p.Thr601=)
c.1761C>G (p.Thr587=)
c.1679+4965C>G (n.1679+4965C>G)
c.1857C>G (p.Thr619=)
c.1923C>G (p.Thr641=)
c.1920C>G (p.Thr640=)
c.1893C>G (p.Thr631=)
c.1812C>G (p.Thr604=)
c.1797C>G (p.Thr599=)
c.1404C>G (p.Thr468=)
c.1866C>G (p.Thr622=)
c.1800C>G (p.Thr600=)
c.1758C>G (p.Thr586=)
c.831C>G (p.Thr277=)
 ClinVar
20g.63408485G>TCA511203570KCNQ2c.1869C>A (p.Thr623=)
c.1815C>A (p.Thr605=)
c.141C>A
c.1212C>A (p.Thr404=)
c.1722C>A (p.Thr574=)
c.1383C>A (p.Thr461=)
c.1731C>A (p.Thr577=)
c.1839C>A (p.Thr613=)
c.1803C>A (p.Thr601=)
c.1761C>A (p.Thr587=)
c.1679+4965C>A (n.1679+4965C>A)
c.1857C>A (p.Thr619=)
c.1923C>A (p.Thr641=)
c.1920C>A (p.Thr640=)
c.1893C>A (p.Thr631=)
c.1812C>A (p.Thr604=)
c.1797C>A (p.Thr599=)
c.1404C>A (p.Thr468=)
c.1866C>A (p.Thr622=)
c.1800C>A (p.Thr600=)
c.1758C>A (p.Thr586=)
c.831C>A (p.Thr277=)
 gnomAD v4
20g.63408486G>ACA9958239KCNQ2c.1868C>T (p.Thr623Ile)
c.1814C>T (p.Thr605Ile)
c.140C>T
c.1211C>T (p.Thr404Ile)
c.1721C>T (p.Thr574Ile)
c.1382C>T (p.Thr461Ile)
c.1730C>T (p.Thr577Ile)
c.1838C>T (p.Thr613Ile)
c.1802C>T (p.Thr601Ile)
c.1760C>T (p.Thr587Ile)
c.1679+4964C>T (n.1679+4964C>T)
c.1856C>T (p.Thr619Ile)
c.1922C>T (p.Thr641Ile)
c.1919C>T (p.Thr640Ile)
c.1892C>T (p.Thr631Ile)
c.1811C>T (p.Thr604Ile)
c.1796C>T (p.Thr599Ile)
c.1403C>T (p.Thr468Ile)
c.1865C>T (p.Thr622Ile)
c.1799C>T (p.Thr600Ile)
c.1757C>T (p.Thr586Ile)
c.830C>T (p.Thr277Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408486G>CCA315504KCNQ2c.1868C>G (p.Thr623Ser)
c.1814C>G (p.Thr605Ser)
c.140C>G
c.1211C>G (p.Thr404Ser)
c.1721C>G (p.Thr574Ser)
c.1382C>G (p.Thr461Ser)
c.1730C>G (p.Thr577Ser)
c.1838C>G (p.Thr613Ser)
c.1802C>G (p.Thr601Ser)
c.1760C>G (p.Thr587Ser)
c.1679+4964C>G (n.1679+4964C>G)
c.1856C>G (p.Thr619Ser)
c.1922C>G (p.Thr641Ser)
c.1919C>G (p.Thr640Ser)
c.1892C>G (p.Thr631Ser)
c.1811C>G (p.Thr604Ser)
c.1796C>G (p.Thr599Ser)
c.1403C>G (p.Thr468Ser)
c.1865C>G (p.Thr622Ser)
c.1799C>G (p.Thr600Ser)
c.1757C>G (p.Thr586Ser)
c.830C>G (p.Thr277Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408486G=CA2374775226KCNQ2c.1868C= (p.Thr623=)
c.1814C= (p.Thr605=)
c.140C=
c.1211C= (p.Thr404=)
c.1721C= (p.Thr574=)
c.1382C= (p.Thr461=)
c.1730C= (p.Thr577=)
c.1838C= (p.Thr613=)
c.1802C= (p.Thr601=)
c.1760C= (p.Thr587=)
c.1679+4964C= (n.1679+4964C=)
c.1856C= (p.Thr619=)
c.1922C= (p.Thr641=)
c.1919C= (p.Thr640=)
c.1892C= (p.Thr631=)
c.1811C= (p.Thr604=)
c.1796C= (p.Thr599=)
c.1403C= (p.Thr468=)
c.1865C= (p.Thr622=)
c.1799C= (p.Thr600=)
c.1757C= (p.Thr586=)
c.830C= (p.Thr277=)
20g.63408486G>TCA409640350KCNQ2c.1868C>A (p.Thr623Asn)
c.1814C>A (p.Thr605Asn)
c.140C>A
c.1211C>A (p.Thr404Asn)
c.1721C>A (p.Thr574Asn)
c.1382C>A (p.Thr461Asn)
c.1730C>A (p.Thr577Asn)
c.1838C>A (p.Thr613Asn)
c.1802C>A (p.Thr601Asn)
c.1760C>A (p.Thr587Asn)
c.1679+4964C>A (n.1679+4964C>A)
c.1856C>A (p.Thr619Asn)
c.1922C>A (p.Thr641Asn)
c.1919C>A (p.Thr640Asn)
c.1892C>A (p.Thr631Asn)
c.1811C>A (p.Thr604Asn)
c.1796C>A (p.Thr599Asn)
c.1403C>A (p.Thr468Asn)
c.1865C>A (p.Thr622Asn)
c.1799C>A (p.Thr600Asn)
c.1757C>A (p.Thr586Asn)
c.830C>A (p.Thr277Asn)
20g.63408487T>ACA409640351KCNQ2c.1867A>T (p.Thr623Ser)
c.1813A>T (p.Thr605Ser)
c.139A>T
c.1210A>T (p.Thr404Ser)
c.1720A>T (p.Thr574Ser)
c.1381A>T (p.Thr461Ser)
c.1729A>T (p.Thr577Ser)
c.1837A>T (p.Thr613Ser)
c.1801A>T (p.Thr601Ser)
c.1759A>T (p.Thr587Ser)
c.1679+4963A>T (n.1679+4963A>T)
c.1855A>T (p.Thr619Ser)
c.1921A>T (p.Thr641Ser)
c.1918A>T (p.Thr640Ser)
c.1891A>T (p.Thr631Ser)
c.1810A>T (p.Thr604Ser)
c.1795A>T (p.Thr599Ser)
c.1402A>T (p.Thr468Ser)
c.1864A>T (p.Thr622Ser)
c.1798A>T (p.Thr600Ser)
c.1756A>T (p.Thr586Ser)
c.829A>T (p.Thr277Ser)
20g.63408487T>CCA409640352KCNQ2c.1867A>G (p.Thr623Ala)
c.1813A>G (p.Thr605Ala)
c.139A>G
c.1210A>G (p.Thr404Ala)
c.1720A>G (p.Thr574Ala)
c.1381A>G (p.Thr461Ala)
c.1729A>G (p.Thr577Ala)
c.1837A>G (p.Thr613Ala)
c.1801A>G (p.Thr601Ala)
c.1759A>G (p.Thr587Ala)
c.1679+4963A>G (n.1679+4963A>G)
c.1855A>G (p.Thr619Ala)
c.1921A>G (p.Thr641Ala)
c.1918A>G (p.Thr640Ala)
c.1891A>G (p.Thr631Ala)
c.1810A>G (p.Thr604Ala)
c.1795A>G (p.Thr599Ala)
c.1402A>G (p.Thr468Ala)
c.1864A>G (p.Thr622Ala)
c.1798A>G (p.Thr600Ala)
c.1756A>G (p.Thr586Ala)
c.829A>G (p.Thr277Ala)
20g.63408487T>GCA409640353KCNQ2c.1867A>C (p.Thr623Pro)
c.1813A>C (p.Thr605Pro)
c.139A>C
c.1210A>C (p.Thr404Pro)
c.1720A>C (p.Thr574Pro)
c.1381A>C (p.Thr461Pro)
c.1729A>C (p.Thr577Pro)
c.1837A>C (p.Thr613Pro)
c.1801A>C (p.Thr601Pro)
c.1759A>C (p.Thr587Pro)
c.1679+4963A>C (n.1679+4963A>C)
c.1855A>C (p.Thr619Pro)
c.1921A>C (p.Thr641Pro)
c.1918A>C (p.Thr640Pro)
c.1891A>C (p.Thr631Pro)
c.1810A>C (p.Thr604Pro)
c.1795A>C (p.Thr599Pro)
c.1402A>C (p.Thr468Pro)
c.1864A>C (p.Thr622Pro)
c.1798A>C (p.Thr600Pro)
c.1756A>C (p.Thr586Pro)
c.829A>C (p.Thr277Pro)
20g.63408488G>ACA511203571KCNQ2c.1866C>T (p.Arg622=)
c.1812C>T (p.Arg604=)
c.138C>T
c.1209C>T (p.Arg403=)
c.1719C>T (p.Arg573=)
c.1380C>T (p.Arg460=)
c.1728C>T (p.Arg576=)
c.1836C>T (p.Arg612=)
c.1800C>T (p.Arg600=)
c.1758C>T (p.Arg586=)
c.1679+4962C>T (n.1679+4962C>T)
c.1854C>T (p.Arg618=)
c.1920C>T (p.Arg640=)
c.1917C>T (p.Arg639=)
c.1890C>T (p.Arg630=)
c.1809C>T (p.Arg603=)
c.1794C>T (p.Arg598=)
c.1401C>T (p.Arg467=)
c.1863C>T (p.Arg621=)
c.1797C>T (p.Arg599=)
c.1755C>T (p.Arg585=)
c.828C>T (p.Arg276=)
 ClinVar dbSNP gnomAD v4
20g.63408488G>CCA511203572KCNQ2c.1866C>G (p.Arg622=)
c.1812C>G (p.Arg604=)
c.138C>G
c.1209C>G (p.Arg403=)
c.1719C>G (p.Arg573=)
c.1380C>G (p.Arg460=)
c.1728C>G (p.Arg576=)
c.1836C>G (p.Arg612=)
c.1800C>G (p.Arg600=)
c.1758C>G (p.Arg586=)
c.1679+4962C>G (n.1679+4962C>G)
c.1854C>G (p.Arg618=)
c.1920C>G (p.Arg640=)
c.1917C>G (p.Arg639=)
c.1890C>G (p.Arg630=)
c.1809C>G (p.Arg603=)
c.1794C>G (p.Arg598=)
c.1401C>G (p.Arg467=)
c.1863C>G (p.Arg621=)
c.1797C>G (p.Arg599=)
c.1755C>G (p.Arg585=)
c.828C>G (p.Arg276=)
20g.63408488G>TCA511203573KCNQ2c.1866C>A (p.Arg622=)
c.1812C>A (p.Arg604=)
c.138C>A
c.1209C>A (p.Arg403=)
c.1719C>A (p.Arg573=)
c.1380C>A (p.Arg460=)
c.1728C>A (p.Arg576=)
c.1836C>A (p.Arg612=)
c.1800C>A (p.Arg600=)
c.1758C>A (p.Arg586=)
c.1679+4962C>A (n.1679+4962C>A)
c.1854C>A (p.Arg618=)
c.1920C>A (p.Arg640=)
c.1917C>A (p.Arg639=)
c.1890C>A (p.Arg630=)
c.1809C>A (p.Arg603=)
c.1794C>A (p.Arg598=)
c.1401C>A (p.Arg467=)
c.1863C>A (p.Arg621=)
c.1797C>A (p.Arg599=)
c.1755C>A (p.Arg585=)
c.828C>A (p.Arg276=)
20g.63408489C>ACA409640354KCNQ2c.1865G>T (p.Arg622Leu)
c.1811G>T (p.Arg604Leu)
c.137G>T
c.1208G>T (p.Arg403Leu)
c.1718G>T (p.Arg573Leu)
c.1379G>T (p.Arg460Leu)
c.1727G>T (p.Arg576Leu)
c.1835G>T (p.Arg612Leu)
c.1799G>T (p.Arg600Leu)
c.1757G>T (p.Arg586Leu)
c.1679+4961G>T (n.1679+4961G>T)
c.1853G>T (p.Arg618Leu)
c.1919G>T (p.Arg640Leu)
c.1916G>T (p.Arg639Leu)
c.1889G>T (p.Arg630Leu)
c.1808G>T (p.Arg603Leu)
c.1793G>T (p.Arg598Leu)
c.1400G>T (p.Arg467Leu)
c.1862G>T (p.Arg621Leu)
c.1796G>T (p.Arg599Leu)
c.1754G>T (p.Arg585Leu)
c.827G>T (p.Arg276Leu)
 dbSNP COSMIC
20g.63408489C=CA2374775227KCNQ2c.1865G= (p.Arg622=)
c.1811G= (p.Arg604=)
c.137G=
c.1208G= (p.Arg403=)
c.1718G= (p.Arg573=)
c.1379G= (p.Arg460=)
c.1727G= (p.Arg576=)
c.1835G= (p.Arg612=)
c.1799G= (p.Arg600=)
c.1757G= (p.Arg586=)
c.1679+4961G= (n.1679+4961G=)
c.1853G= (p.Arg618=)
c.1919G= (p.Arg640=)
c.1916G= (p.Arg639=)
c.1889G= (p.Arg630=)
c.1808G= (p.Arg603=)
c.1793G= (p.Arg598=)
c.1400G= (p.Arg467=)
c.1862G= (p.Arg621=)
c.1796G= (p.Arg599=)
c.1754G= (p.Arg585=)
c.827G= (p.Arg276=)
20g.63408489C>GCA409640356KCNQ2c.1865G>C (p.Arg622Pro)
c.1811G>C (p.Arg604Pro)
c.137G>C
c.1208G>C (p.Arg403Pro)
c.1718G>C (p.Arg573Pro)
c.1379G>C (p.Arg460Pro)
c.1727G>C (p.Arg576Pro)
c.1835G>C (p.Arg612Pro)
c.1799G>C (p.Arg600Pro)
c.1757G>C (p.Arg586Pro)
c.1679+4961G>C (n.1679+4961G>C)
c.1853G>C (p.Arg618Pro)
c.1919G>C (p.Arg640Pro)
c.1916G>C (p.Arg639Pro)
c.1889G>C (p.Arg630Pro)
c.1808G>C (p.Arg603Pro)
c.1793G>C (p.Arg598Pro)
c.1400G>C (p.Arg467Pro)
c.1862G>C (p.Arg621Pro)
c.1796G>C (p.Arg599Pro)
c.1754G>C (p.Arg585Pro)
c.827G>C (p.Arg276Pro)
20g.63408489C>TCA409640355KCNQ2c.1865G>A (p.Arg622His)
c.1811G>A (p.Arg604His)
c.137G>A
c.1208G>A (p.Arg403His)
c.1718G>A (p.Arg573His)
c.1379G>A (p.Arg460His)
c.1727G>A (p.Arg576His)
c.1835G>A (p.Arg612His)
c.1799G>A (p.Arg600His)
c.1757G>A (p.Arg586His)
c.1679+4961G>A (n.1679+4961G>A)
c.1853G>A (p.Arg618His)
c.1919G>A (p.Arg640His)
c.1916G>A (p.Arg639His)
c.1889G>A (p.Arg630His)
c.1808G>A (p.Arg603His)
c.1793G>A (p.Arg598His)
c.1400G>A (p.Arg467His)
c.1862G>A (p.Arg621His)
c.1796G>A (p.Arg599His)
c.1754G>A (p.Arg585His)
c.827G>A (p.Arg276His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63408490G>ACA315501KCNQ2c.1864C>T (p.Arg622Cys)
c.1810C>T (p.Arg604Cys)
c.136C>T
c.1207C>T (p.Arg403Cys)
c.1717C>T (p.Arg573Cys)
c.1378C>T (p.Arg460Cys)
c.1726C>T (p.Arg576Cys)
c.1834C>T (p.Arg612Cys)
c.1798C>T (p.Arg600Cys)
c.1756C>T (p.Arg586Cys)
c.1679+4960C>T (n.1679+4960C>T)
c.1852C>T (p.Arg618Cys)
c.1918C>T (p.Arg640Cys)
c.1915C>T (p.Arg639Cys)
c.1888C>T (p.Arg630Cys)
c.1807C>T (p.Arg603Cys)
c.1792C>T (p.Arg598Cys)
c.1399C>T (p.Arg467Cys)
c.1861C>T (p.Arg621Cys)
c.1795C>T (p.Arg599Cys)
c.1753C>T (p.Arg585Cys)
c.826C>T (p.Arg276Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63408490G>CCA409640357KCNQ2c.1864C>G (p.Arg622Gly)
c.1810C>G (p.Arg604Gly)
c.136C>G
c.1207C>G (p.Arg403Gly)
c.1717C>G (p.Arg573Gly)
c.1378C>G (p.Arg460Gly)
c.1726C>G (p.Arg576Gly)
c.1834C>G (p.Arg612Gly)
c.1798C>G (p.Arg600Gly)
c.1756C>G (p.Arg586Gly)
c.1679+4960C>G (n.1679+4960C>G)
c.1852C>G (p.Arg618Gly)
c.1918C>G (p.Arg640Gly)
c.1915C>G (p.Arg639Gly)
c.1888C>G (p.Arg630Gly)
c.1807C>G (p.Arg603Gly)
c.1792C>G (p.Arg598Gly)
c.1399C>G (p.Arg467Gly)
c.1861C>G (p.Arg621Gly)
c.1795C>G (p.Arg599Gly)
c.1753C>G (p.Arg585Gly)
c.826C>G (p.Arg276Gly)
20g.63408490G=CA2374775228KCNQ2c.1864C= (p.Arg622=)
c.1810C= (p.Arg604=)
c.136C=
c.1207C= (p.Arg403=)
c.1717C= (p.Arg573=)
c.1378C= (p.Arg460=)
c.1726C= (p.Arg576=)
c.1834C= (p.Arg612=)
c.1798C= (p.Arg600=)
c.1756C= (p.Arg586=)
c.1679+4960C= (n.1679+4960C=)
c.1852C= (p.Arg618=)
c.1918C= (p.Arg640=)
c.1915C= (p.Arg639=)
c.1888C= (p.Arg630=)
c.1807C= (p.Arg603=)
c.1792C= (p.Arg598=)
c.1399C= (p.Arg467=)
c.1861C= (p.Arg621=)
c.1795C= (p.Arg599=)
c.1753C= (p.Arg585=)
c.826C= (p.Arg276=)
20g.63408490G>TCA9958240KCNQ2c.1864C>A (p.Arg622Ser)
c.1810C>A (p.Arg604Ser)
c.136C>A
c.1207C>A (p.Arg403Ser)
c.1717C>A (p.Arg573Ser)
c.1378C>A (p.Arg460Ser)
c.1726C>A (p.Arg576Ser)
c.1834C>A (p.Arg612Ser)
c.1798C>A (p.Arg600Ser)
c.1756C>A (p.Arg586Ser)
c.1679+4960C>A (n.1679+4960C>A)
c.1852C>A (p.Arg618Ser)
c.1918C>A (p.Arg640Ser)
c.1915C>A (p.Arg639Ser)
c.1888C>A (p.Arg630Ser)
c.1807C>A (p.Arg603Ser)
c.1792C>A (p.Arg598Ser)
c.1399C>A (p.Arg467Ser)
c.1861C>A (p.Arg621Ser)
c.1795C>A (p.Arg599Ser)
c.1753C>A (p.Arg585Ser)
c.826C>A (p.Arg276Ser)
 dbSNP ExAC gnomAD v2
20g.63408491delCA2653808416KCNQ2c.1864del (p.Arg622AlafsTer16)
c.1810del (p.Arg604AlafsTer16)
c.136del
c.1207del (p.Arg403AlafsTer16)
c.1717del (p.Arg573AlafsTer16)
c.1378del (p.Arg460AlafsTer16)
c.1726del (p.Arg576AlafsTer16)
c.1834del (p.Arg612AlafsTer16)
c.1798del (p.Arg600AlafsTer16)
c.1756del (p.Arg586AlafsTer16)
c.1679+4960del (n.1679+4960del)
c.1852del (p.Arg618AlafsTer16)
c.1918del (p.Arg640AlafsTer16)
c.1915del (p.Arg639AlafsTer16)
c.1888del (p.Arg630AlafsTer16)
c.1807del (p.Arg603AlafsTer16)
c.1792del (p.Arg598AlafsTer16)
c.1399del (p.Arg467AlafsTer16)
c.1861del (p.Arg621AlafsTer16)
c.1795del (p.Arg599AlafsTer16)
c.1753del (p.Arg585AlafsTer16)
c.826del (p.Arg276AlafsTer16)
 gnomAD v4
20g.63408491G>ACA511203574KCNQ2c.1863C>T (p.Asp621=)
c.1809C>T (p.Asp603=)
c.135C>T
c.1206C>T (p.Asp402=)
c.1716C>T (p.Asp572=)
c.1377C>T (p.Asp459=)
c.1725C>T (p.Asp575=)
c.1833C>T (p.Asp611=)
c.1797C>T (p.Asp599=)
c.1755C>T (p.Asp585=)
c.1679+4959C>T (n.1679+4959C>T)
c.1851C>T (p.Asp617=)
c.1917C>T (p.Asp639=)
c.1914C>T (p.Asp638=)
c.1887C>T (p.Asp629=)
c.1806C>T (p.Asp602=)
c.1791C>T (p.Asp597=)
c.1398C>T (p.Asp466=)
c.1860C>T (p.Asp620=)
c.1794C>T (p.Asp598=)
c.1752C>T (p.Asp584=)
c.825C>T (p.Asp275=)
20g.63408491G>CCA409640358KCNQ2c.1863C>G (p.Asp621Glu)
c.1809C>G (p.Asp603Glu)
c.135C>G
c.1206C>G (p.Asp402Glu)
c.1716C>G (p.Asp572Glu)
c.1377C>G (p.Asp459Glu)
c.1725C>G (p.Asp575Glu)
c.1833C>G (p.Asp611Glu)
c.1797C>G (p.Asp599Glu)
c.1755C>G (p.Asp585Glu)
c.1679+4959C>G (n.1679+4959C>G)
c.1851C>G (p.Asp617Glu)
c.1917C>G (p.Asp639Glu)
c.1914C>G (p.Asp638Glu)
c.1887C>G (p.Asp629Glu)
c.1806C>G (p.Asp602Glu)
c.1791C>G (p.Asp597Glu)
c.1398C>G (p.Asp466Glu)
c.1860C>G (p.Asp620Glu)
c.1794C>G (p.Asp598Glu)
c.1752C>G (p.Asp584Glu)
c.825C>G (p.Asp275Glu)
20g.63408491G>TCA409640359KCNQ2c.1863C>A (p.Asp621Glu)
c.1809C>A (p.Asp603Glu)
c.135C>A
c.1206C>A (p.Asp402Glu)
c.1716C>A (p.Asp572Glu)
c.1377C>A (p.Asp459Glu)
c.1725C>A (p.Asp575Glu)
c.1833C>A (p.Asp611Glu)
c.1797C>A (p.Asp599Glu)
c.1755C>A (p.Asp585Glu)
c.1679+4959C>A (n.1679+4959C>A)
c.1851C>A (p.Asp617Glu)
c.1917C>A (p.Asp639Glu)
c.1914C>A (p.Asp638Glu)
c.1887C>A (p.Asp629Glu)
c.1806C>A (p.Asp602Glu)
c.1791C>A (p.Asp597Glu)
c.1398C>A (p.Asp466Glu)
c.1860C>A (p.Asp620Glu)
c.1794C>A (p.Asp598Glu)
c.1752C>A (p.Asp584Glu)
c.825C>A (p.Asp275Glu)
 gnomAD v4
20g.63408492T>ACA409640360KCNQ2c.1862A>T (p.Asp621Val)
c.1808A>T (p.Asp603Val)
c.134A>T
c.1205A>T (p.Asp402Val)
c.1715A>T (p.Asp572Val)
c.1376A>T (p.Asp459Val)
c.1724A>T (p.Asp575Val)
c.1832A>T (p.Asp611Val)
c.1796A>T (p.Asp599Val)
c.1754A>T (p.Asp585Val)
c.1679+4958A>T (n.1679+4958A>T)
c.1850A>T (p.Asp617Val)
c.1916A>T (p.Asp639Val)
c.1913A>T (p.Asp638Val)
c.1886A>T (p.Asp629Val)
c.1805A>T (p.Asp602Val)
c.1790A>T (p.Asp597Val)
c.1397A>T (p.Asp466Val)
c.1859A>T (p.Asp620Val)
c.1793A>T (p.Asp598Val)
c.1751A>T (p.Asp584Val)
c.824A>T (p.Asp275Val)
20g.63408492T>CCA409640361KCNQ2c.1862A>G (p.Asp621Gly)
c.1808A>G (p.Asp603Gly)
c.134A>G
c.1205A>G (p.Asp402Gly)
c.1715A>G (p.Asp572Gly)
c.1376A>G (p.Asp459Gly)
c.1724A>G (p.Asp575Gly)
c.1832A>G (p.Asp611Gly)
c.1796A>G (p.Asp599Gly)
c.1754A>G (p.Asp585Gly)
c.1679+4958A>G (n.1679+4958A>G)
c.1850A>G (p.Asp617Gly)
c.1916A>G (p.Asp639Gly)
c.1913A>G (p.Asp638Gly)
c.1886A>G (p.Asp629Gly)
c.1805A>G (p.Asp602Gly)
c.1790A>G (p.Asp597Gly)
c.1397A>G (p.Asp466Gly)
c.1859A>G (p.Asp620Gly)
c.1793A>G (p.Asp598Gly)
c.1751A>G (p.Asp584Gly)
c.824A>G (p.Asp275Gly)
 COSMIC COSMIC COSMIC
20g.63408492T>GCA409640362KCNQ2c.1862A>C (p.Asp621Ala)
c.1808A>C (p.Asp603Ala)
c.134A>C
c.1205A>C (p.Asp402Ala)
c.1715A>C (p.Asp572Ala)
c.1376A>C (p.Asp459Ala)
c.1724A>C (p.Asp575Ala)
c.1832A>C (p.Asp611Ala)
c.1796A>C (p.Asp599Ala)
c.1754A>C (p.Asp585Ala)
c.1679+4958A>C (n.1679+4958A>C)
c.1850A>C (p.Asp617Ala)
c.1916A>C (p.Asp639Ala)
c.1913A>C (p.Asp638Ala)
c.1886A>C (p.Asp629Ala)
c.1805A>C (p.Asp602Ala)
c.1790A>C (p.Asp597Ala)
c.1397A>C (p.Asp466Ala)
c.1859A>C (p.Asp620Ala)
c.1793A>C (p.Asp598Ala)
c.1751A>C (p.Asp584Ala)
c.824A>C (p.Asp275Ala)
20g.63408493C>ACA409640363KCNQ2c.1861G>T (p.Asp621Tyr)
c.1807G>T (p.Asp603Tyr)
c.133G>T
c.1204G>T (p.Asp402Tyr)
c.1714G>T (p.Asp572Tyr)
c.1375G>T (p.Asp459Tyr)
c.1723G>T (p.Asp575Tyr)
c.1831G>T (p.Asp611Tyr)
c.1795G>T (p.Asp599Tyr)
c.1753G>T (p.Asp585Tyr)
c.1679+4957G>T (n.1679+4957G>T)
c.1849G>T (p.Asp617Tyr)
c.1915G>T (p.Asp639Tyr)
c.1912G>T (p.Asp638Tyr)
c.1885G>T (p.Asp629Tyr)
c.1804G>T (p.Asp602Tyr)
c.1789G>T (p.Asp597Tyr)
c.1396G>T (p.Asp466Tyr)
c.1858G>T (p.Asp620Tyr)
c.1792G>T (p.Asp598Tyr)
c.1750G>T (p.Asp584Tyr)
c.823G>T (p.Asp275Tyr)
20g.63408493C>GCA409640364KCNQ2c.1861G>C (p.Asp621His)
c.1807G>C (p.Asp603His)
c.133G>C
c.1204G>C (p.Asp402His)
c.1714G>C (p.Asp572His)
c.1375G>C (p.Asp459His)
c.1723G>C (p.Asp575His)
c.1831G>C (p.Asp611His)
c.1795G>C (p.Asp599His)
c.1753G>C (p.Asp585His)
c.1679+4957G>C (n.1679+4957G>C)
c.1849G>C (p.Asp617His)
c.1915G>C (p.Asp639His)
c.1912G>C (p.Asp638His)
c.1885G>C (p.Asp629His)
c.1804G>C (p.Asp602His)
c.1789G>C (p.Asp597His)
c.1396G>C (p.Asp466His)
c.1858G>C (p.Asp620His)
c.1792G>C (p.Asp598His)
c.1750G>C (p.Asp584His)
c.823G>C (p.Asp275His)
20g.63408493C>TCA409640365KCNQ2c.1861G>A (p.Asp621Asn)
c.1807G>A (p.Asp603Asn)
c.133G>A
c.1204G>A (p.Asp402Asn)
c.1714G>A (p.Asp572Asn)
c.1375G>A (p.Asp459Asn)
c.1723G>A (p.Asp575Asn)
c.1831G>A (p.Asp611Asn)
c.1795G>A (p.Asp599Asn)
c.1753G>A (p.Asp585Asn)
c.1679+4957G>A (n.1679+4957G>A)
c.1849G>A (p.Asp617Asn)
c.1915G>A (p.Asp639Asn)
c.1912G>A (p.Asp638Asn)
c.1885G>A (p.Asp629Asn)
c.1804G>A (p.Asp602Asn)
c.1789G>A (p.Asp597Asn)
c.1396G>A (p.Asp466Asn)
c.1858G>A (p.Asp620Asn)
c.1792G>A (p.Asp598Asn)
c.1750G>A (p.Asp584Asn)
c.823G>A (p.Asp275Asn)
20g.63408494C>ACA409640366KCNQ2c.1860G>T (p.Lys620Asn)
c.1806G>T (p.Lys602Asn)
c.132G>T
c.1203G>T (p.Lys401Asn)
c.1713G>T (p.Lys571Asn)
c.1374G>T (p.Lys458Asn)
c.1722G>T (p.Lys574Asn)
c.1830G>T (p.Lys610Asn)
c.1794G>T (p.Lys598Asn)
c.1752G>T (p.Lys584Asn)
c.1679+4956G>T (n.1679+4956G>T)
c.1848G>T (p.Lys616Asn)
c.1914G>T (p.Lys638Asn)
c.1911G>T (p.Lys637Asn)
c.1884G>T (p.Lys628Asn)
c.1803G>T (p.Lys601Asn)
c.1788G>T (p.Lys596Asn)
c.1395G>T (p.Lys465Asn)
c.1857G>T (p.Lys619Asn)
c.1791G>T (p.Lys597Asn)
c.1749G>T (p.Lys583Asn)
c.822G>T (p.Lys274Asn)
 gnomAD v4
20g.63408494C>GCA409640367KCNQ2c.1860G>C (p.Lys620Asn)
c.1806G>C (p.Lys602Asn)
c.132G>C
c.1203G>C (p.Lys401Asn)
c.1713G>C (p.Lys571Asn)
c.1374G>C (p.Lys458Asn)
c.1722G>C (p.Lys574Asn)
c.1830G>C (p.Lys610Asn)
c.1794G>C (p.Lys598Asn)
c.1752G>C (p.Lys584Asn)
c.1679+4956G>C (n.1679+4956G>C)
c.1848G>C (p.Lys616Asn)
c.1914G>C (p.Lys638Asn)
c.1911G>C (p.Lys637Asn)
c.1884G>C (p.Lys628Asn)
c.1803G>C (p.Lys601Asn)
c.1788G>C (p.Lys596Asn)
c.1395G>C (p.Lys465Asn)
c.1857G>C (p.Lys619Asn)
c.1791G>C (p.Lys597Asn)
c.1749G>C (p.Lys583Asn)
c.822G>C (p.Lys274Asn)
20g.63408494C>TCA511203575KCNQ2c.1860G>A (p.Lys620=)
c.1806G>A (p.Lys602=)
c.132G>A
c.1203G>A (p.Lys401=)
c.1713G>A (p.Lys571=)
c.1374G>A (p.Lys458=)
c.1722G>A (p.Lys574=)
c.1830G>A (p.Lys610=)
c.1794G>A (p.Lys598=)
c.1752G>A (p.Lys584=)
c.1679+4956G>A (n.1679+4956G>A)
c.1848G>A (p.Lys616=)
c.1914G>A (p.Lys638=)
c.1911G>A (p.Lys637=)
c.1884G>A (p.Lys628=)
c.1803G>A (p.Lys601=)
c.1788G>A (p.Lys596=)
c.1395G>A (p.Lys465=)
c.1857G>A (p.Lys619=)
c.1791G>A (p.Lys597=)
c.1749G>A (p.Lys583=)
c.822G>A (p.Lys274=)
 ClinVar dbSNP
20g.63408495T>ACA409640368KCNQ2c.1859A>T (p.Lys620Met)
c.1805A>T (p.Lys602Met)
c.131A>T
c.1202A>T (p.Lys401Met)
c.1712A>T (p.Lys571Met)
c.1373A>T (p.Lys458Met)
c.1721A>T (p.Lys574Met)
c.1829A>T (p.Lys610Met)
c.1793A>T (p.Lys598Met)
c.1751A>T (p.Lys584Met)
c.1679+4955A>T (n.1679+4955A>T)
c.1847A>T (p.Lys616Met)
c.1913A>T (p.Lys638Met)
c.1910A>T (p.Lys637Met)
c.1883A>T (p.Lys628Met)
c.1802A>T (p.Lys601Met)
c.1787A>T (p.Lys596Met)
c.1394A>T (p.Lys465Met)
c.1856A>T (p.Lys619Met)
c.1790A>T (p.Lys597Met)
c.1748A>T (p.Lys583Met)
c.821A>T (p.Lys274Met)
20g.63408495T>CCA409640370KCNQ2c.1859A>G (p.Lys620Arg)
c.1805A>G (p.Lys602Arg)
c.131A>G
c.1202A>G (p.Lys401Arg)
c.1712A>G (p.Lys571Arg)
c.1373A>G (p.Lys458Arg)
c.1721A>G (p.Lys574Arg)
c.1829A>G (p.Lys610Arg)
c.1793A>G (p.Lys598Arg)
c.1751A>G (p.Lys584Arg)
c.1679+4955A>G (n.1679+4955A>G)
c.1847A>G (p.Lys616Arg)
c.1913A>G (p.Lys638Arg)
c.1910A>G (p.Lys637Arg)
c.1883A>G (p.Lys628Arg)
c.1802A>G (p.Lys601Arg)
c.1787A>G (p.Lys596Arg)
c.1394A>G (p.Lys465Arg)
c.1856A>G (p.Lys619Arg)
c.1790A>G (p.Lys597Arg)
c.1748A>G (p.Lys583Arg)
c.821A>G (p.Lys274Arg)
 gnomAD v4
20g.63408495T>GCA409640369KCNQ2c.1859A>C (p.Lys620Thr)
c.1805A>C (p.Lys602Thr)
c.131A>C
c.1202A>C (p.Lys401Thr)
c.1712A>C (p.Lys571Thr)
c.1373A>C (p.Lys458Thr)
c.1721A>C (p.Lys574Thr)
c.1829A>C (p.Lys610Thr)
c.1793A>C (p.Lys598Thr)
c.1751A>C (p.Lys584Thr)
c.1679+4955A>C (n.1679+4955A>C)
c.1847A>C (p.Lys616Thr)
c.1913A>C (p.Lys638Thr)
c.1910A>C (p.Lys637Thr)
c.1883A>C (p.Lys628Thr)
c.1802A>C (p.Lys601Thr)
c.1787A>C (p.Lys596Thr)
c.1394A>C (p.Lys465Thr)
c.1856A>C (p.Lys619Thr)
c.1790A>C (p.Lys597Thr)
c.1748A>C (p.Lys583Thr)
c.821A>C (p.Lys274Thr)
20g.63408496T>ACA409640371KCNQ2c.1858A>T (p.Lys620Ter)
c.1804A>T (p.Lys602Ter)
c.130A>T
c.1201A>T (p.Lys401Ter)
c.1711A>T (p.Lys571Ter)
c.1372A>T (p.Lys458Ter)
c.1720A>T (p.Lys574Ter)
c.1828A>T (p.Lys610Ter)
c.1792A>T (p.Lys598Ter)
c.1750A>T (p.Lys584Ter)
c.1679+4954A>T (n.1679+4954A>T)
c.1846A>T (p.Lys616Ter)
c.1912A>T (p.Lys638Ter)
c.1909A>T (p.Lys637Ter)
c.1882A>T (p.Lys628Ter)
c.1801A>T (p.Lys601Ter)
c.1786A>T (p.Lys596Ter)
c.1393A>T (p.Lys465Ter)
c.1855A>T (p.Lys619Ter)
c.1789A>T (p.Lys597Ter)
c.1747A>T (p.Lys583Ter)
c.820A>T (p.Lys274Ter)
20g.63408496T>CCA409640372KCNQ2c.1858A>G (p.Lys620Glu)
c.1804A>G (p.Lys602Glu)
c.130A>G
c.1201A>G (p.Lys401Glu)
c.1711A>G (p.Lys571Glu)
c.1372A>G (p.Lys458Glu)
c.1720A>G (p.Lys574Glu)
c.1828A>G (p.Lys610Glu)
c.1792A>G (p.Lys598Glu)
c.1750A>G (p.Lys584Glu)
c.1679+4954A>G (n.1679+4954A>G)
c.1846A>G (p.Lys616Glu)
c.1912A>G (p.Lys638Glu)
c.1909A>G (p.Lys637Glu)
c.1882A>G (p.Lys628Glu)
c.1801A>G (p.Lys601Glu)
c.1786A>G (p.Lys596Glu)
c.1393A>G (p.Lys465Glu)
c.1855A>G (p.Lys619Glu)
c.1789A>G (p.Lys597Glu)
c.1747A>G (p.Lys583Glu)
c.820A>G (p.Lys274Glu)
20g.63408496T>GCA409640374KCNQ2c.1858A>C (p.Lys620Gln)
c.1804A>C (p.Lys602Gln)
c.130A>C
c.1201A>C (p.Lys401Gln)
c.1711A>C (p.Lys571Gln)
c.1372A>C (p.Lys458Gln)
c.1720A>C (p.Lys574Gln)
c.1828A>C (p.Lys610Gln)
c.1792A>C (p.Lys598Gln)
c.1750A>C (p.Lys584Gln)
c.1679+4954A>C (n.1679+4954A>C)
c.1846A>C (p.Lys616Gln)
c.1912A>C (p.Lys638Gln)
c.1909A>C (p.Lys637Gln)
c.1882A>C (p.Lys628Gln)
c.1801A>C (p.Lys601Gln)
c.1786A>C (p.Lys596Gln)
c.1393A>C (p.Lys465Gln)
c.1855A>C (p.Lys619Gln)
c.1789A>C (p.Lys597Gln)
c.1747A>C (p.Lys583Gln)
c.820A>C (p.Lys274Gln)
20g.63408497G>ACA511203576KCNQ2c.1857C>T (p.Asp619=)
c.1803C>T (p.Asp601=)
c.129C>T
c.1200C>T (p.Asp400=)
c.1710C>T (p.Asp570=)
c.1371C>T (p.Asp457=)
c.1719C>T (p.Asp573=)
c.1827C>T (p.Asp609=)
c.1791C>T (p.Asp597=)
c.1749C>T (p.Asp583=)
c.1679+4953C>T (n.1679+4953C>T)
c.1845C>T (p.Asp615=)
c.1911C>T (p.Asp637=)
c.1908C>T (p.Asp636=)
c.1881C>T (p.Asp627=)
c.1800C>T (p.Asp600=)
c.1785C>T (p.Asp595=)
c.1392C>T (p.Asp464=)
c.1854C>T (p.Asp618=)
c.1788C>T (p.Asp596=)
c.1746C>T (p.Asp582=)
c.819C>T (p.Asp273=)
20g.63408497G>CCA409640375KCNQ2c.1857C>G (p.Asp619Glu)
c.1803C>G (p.Asp601Glu)
c.129C>G
c.1200C>G (p.Asp400Glu)
c.1710C>G (p.Asp570Glu)
c.1371C>G (p.Asp457Glu)
c.1719C>G (p.Asp573Glu)
c.1827C>G (p.Asp609Glu)
c.1791C>G (p.Asp597Glu)
c.1749C>G (p.Asp583Glu)
c.1679+4953C>G (n.1679+4953C>G)
c.1845C>G (p.Asp615Glu)
c.1911C>G (p.Asp637Glu)
c.1908C>G (p.Asp636Glu)
c.1881C>G (p.Asp627Glu)
c.1800C>G (p.Asp600Glu)
c.1785C>G (p.Asp595Glu)
c.1392C>G (p.Asp464Glu)
c.1854C>G (p.Asp618Glu)
c.1788C>G (p.Asp596Glu)
c.1746C>G (p.Asp582Glu)
c.819C>G (p.Asp273Glu)
20g.63408497G>TCA409640377KCNQ2c.1857C>A (p.Asp619Glu)
c.1803C>A (p.Asp601Glu)
c.129C>A
c.1200C>A (p.Asp400Glu)
c.1710C>A (p.Asp570Glu)
c.1371C>A (p.Asp457Glu)
c.1719C>A (p.Asp573Glu)
c.1827C>A (p.Asp609Glu)
c.1791C>A (p.Asp597Glu)
c.1749C>A (p.Asp583Glu)
c.1679+4953C>A (n.1679+4953C>A)
c.1845C>A (p.Asp615Glu)
c.1911C>A (p.Asp637Glu)
c.1908C>A (p.Asp636Glu)
c.1881C>A (p.Asp627Glu)
c.1800C>A (p.Asp600Glu)
c.1785C>A (p.Asp595Glu)
c.1392C>A (p.Asp464Glu)
c.1854C>A (p.Asp618Glu)
c.1788C>A (p.Asp596Glu)
c.1746C>A (p.Asp582Glu)
c.819C>A (p.Asp273Glu)
20g.63408498T>ACA409640379KCNQ2c.1856A>T (p.Asp619Val)
c.1802A>T (p.Asp601Val)
c.128A>T
c.1199A>T (p.Asp400Val)
c.1709A>T (p.Asp570Val)
c.1370A>T (p.Asp457Val)
c.1718A>T (p.Asp573Val)
c.1826A>T (p.Asp609Val)
c.1790A>T (p.Asp597Val)
c.1748A>T (p.Asp583Val)
c.1679+4952A>T (n.1679+4952A>T)
c.1844A>T (p.Asp615Val)
c.1910A>T (p.Asp637Val)
c.1907A>T (p.Asp636Val)
c.1880A>T (p.Asp627Val)
c.1799A>T (p.Asp600Val)
c.1784A>T (p.Asp595Val)
c.1391A>T (p.Asp464Val)
c.1853A>T (p.Asp618Val)
c.1787A>T (p.Asp596Val)
c.1745A>T (p.Asp582Val)
c.818A>T (p.Asp273Val)
20g.63408498T>CCA409640380KCNQ2c.1856A>G (p.Asp619Gly)
c.1802A>G (p.Asp601Gly)
c.128A>G
c.1199A>G (p.Asp400Gly)
c.1709A>G (p.Asp570Gly)
c.1370A>G (p.Asp457Gly)
c.1718A>G (p.Asp573Gly)
c.1826A>G (p.Asp609Gly)
c.1790A>G (p.Asp597Gly)
c.1748A>G (p.Asp583Gly)
c.1679+4952A>G (n.1679+4952A>G)
c.1844A>G (p.Asp615Gly)
c.1910A>G (p.Asp637Gly)
c.1907A>G (p.Asp636Gly)
c.1880A>G (p.Asp627Gly)
c.1799A>G (p.Asp600Gly)
c.1784A>G (p.Asp595Gly)
c.1391A>G (p.Asp464Gly)
c.1853A>G (p.Asp618Gly)
c.1787A>G (p.Asp596Gly)
c.1745A>G (p.Asp582Gly)
c.818A>G (p.Asp273Gly)
20g.63408498T>GCA409640381KCNQ2c.1856A>C (p.Asp619Ala)
c.1802A>C (p.Asp601Ala)
c.128A>C
c.1199A>C (p.Asp400Ala)
c.1709A>C (p.Asp570Ala)
c.1370A>C (p.Asp457Ala)
c.1718A>C (p.Asp573Ala)
c.1826A>C (p.Asp609Ala)
c.1790A>C (p.Asp597Ala)
c.1748A>C (p.Asp583Ala)
c.1679+4952A>C (n.1679+4952A>C)
c.1844A>C (p.Asp615Ala)
c.1910A>C (p.Asp637Ala)
c.1907A>C (p.Asp636Ala)
c.1880A>C (p.Asp627Ala)
c.1799A>C (p.Asp600Ala)
c.1784A>C (p.Asp595Ala)
c.1391A>C (p.Asp464Ala)
c.1853A>C (p.Asp618Ala)
c.1787A>C (p.Asp596Ala)
c.1745A>C (p.Asp582Ala)
c.818A>C (p.Asp273Ala)
20g.63408499C>ACA409640384KCNQ2c.1855G>T (p.Asp619Tyr)
c.1801G>T (p.Asp601Tyr)
c.127G>T
c.1198G>T (p.Asp400Tyr)
c.1708G>T (p.Asp570Tyr)
c.1369G>T (p.Asp457Tyr)
c.1717G>T (p.Asp573Tyr)
c.1825G>T (p.Asp609Tyr)
c.1789G>T (p.Asp597Tyr)
c.1747G>T (p.Asp583Tyr)
c.1679+4951G>T (n.1679+4951G>T)
c.1843G>T (p.Asp615Tyr)
c.1909G>T (p.Asp637Tyr)
c.1906G>T (p.Asp636Tyr)
c.1879G>T (p.Asp627Tyr)
c.1798G>T (p.Asp600Tyr)
c.1783G>T (p.Asp595Tyr)
c.1390G>T (p.Asp464Tyr)
c.1852G>T (p.Asp618Tyr)
c.1786G>T (p.Asp596Tyr)
c.1744G>T (p.Asp582Tyr)
c.817G>T (p.Asp273Tyr)
20g.63408499C=CA2374775229KCNQ2c.1855G= (p.Asp619=)
c.1801G= (p.Asp601=)
c.127G=
c.1198G= (p.Asp400=)
c.1708G= (p.Asp570=)
c.1369G= (p.Asp457=)
c.1717G= (p.Asp573=)
c.1825G= (p.Asp609=)
c.1789G= (p.Asp597=)
c.1747G= (p.Asp583=)
c.1679+4951G= (n.1679+4951G=)
c.1843G= (p.Asp615=)
c.1909G= (p.Asp637=)
c.1906G= (p.Asp636=)
c.1879G= (p.Asp627=)
c.1798G= (p.Asp600=)
c.1783G= (p.Asp595=)
c.1390G= (p.Asp464=)
c.1852G= (p.Asp618=)
c.1786G= (p.Asp596=)
c.1744G= (p.Asp582=)
c.817G= (p.Asp273=)
20g.63408499C>GCA409640385KCNQ2c.1855G>C (p.Asp619His)
c.1801G>C (p.Asp601His)
c.127G>C
c.1198G>C (p.Asp400His)
c.1708G>C (p.Asp570His)
c.1369G>C (p.Asp457His)
c.1717G>C (p.Asp573His)
c.1825G>C (p.Asp609His)
c.1789G>C (p.Asp597His)
c.1747G>C (p.Asp583His)
c.1679+4951G>C (n.1679+4951G>C)
c.1843G>C (p.Asp615His)
c.1909G>C (p.Asp637His)
c.1906G>C (p.Asp636His)
c.1879G>C (p.Asp627His)
c.1798G>C (p.Asp600His)
c.1783G>C (p.Asp595His)
c.1390G>C (p.Asp464His)
c.1852G>C (p.Asp618His)
c.1786G>C (p.Asp596His)
c.1744G>C (p.Asp582His)
c.817G>C (p.Asp273His)
20g.63408499C>TCA9958241KCNQ2c.1855G>A (p.Asp619Asn)
c.1801G>A (p.Asp601Asn)
c.127G>A
c.1198G>A (p.Asp400Asn)
c.1708G>A (p.Asp570Asn)
c.1369G>A (p.Asp457Asn)
c.1717G>A (p.Asp573Asn)
c.1825G>A (p.Asp609Asn)
c.1789G>A (p.Asp597Asn)
c.1747G>A (p.Asp583Asn)
c.1679+4951G>A (n.1679+4951G>A)
c.1843G>A (p.Asp615Asn)
c.1909G>A (p.Asp637Asn)
c.1906G>A (p.Asp636Asn)
c.1879G>A (p.Asp627Asn)
c.1798G>A (p.Asp600Asn)
c.1783G>A (p.Asp595Asn)
c.1390G>A (p.Asp464Asn)
c.1852G>A (p.Asp618Asn)
c.1786G>A (p.Asp596Asn)
c.1744G>A (p.Asp582Asn)
c.817G>A (p.Asp273Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408500C>ACA511203578KCNQ2c.1854G>T (p.Thr618=)
c.1800G>T (p.Thr600=)
c.126G>T
c.1197G>T (p.Thr399=)
c.1707G>T (p.Thr569=)
c.1368G>T (p.Thr456=)
c.1716G>T (p.Thr572=)
c.1824G>T (p.Thr608=)
c.1788G>T (p.Thr596=)
c.1746G>T (p.Thr582=)
c.1679+4950G>T (n.1679+4950G>T)
c.1842G>T (p.Thr614=)
c.1908G>T (p.Thr636=)
c.1905G>T (p.Thr635=)
c.1878G>T (p.Thr626=)
c.1797G>T (p.Thr599=)
c.1782G>T (p.Thr594=)
c.1389G>T (p.Thr463=)
c.1851G>T (p.Thr617=)
c.1785G>T (p.Thr595=)
c.1743G>T (p.Thr581=)
c.816G>T (p.Thr272=)
 gnomAD v4
20g.63408500C=CA2374775230KCNQ2c.1854G= (p.Thr618=)
c.1800G= (p.Thr600=)
c.126G=
c.1197G= (p.Thr399=)
c.1707G= (p.Thr569=)
c.1368G= (p.Thr456=)
c.1716G= (p.Thr572=)
c.1824G= (p.Thr608=)
c.1788G= (p.Thr596=)
c.1746G= (p.Thr582=)
c.1679+4950G= (n.1679+4950G=)
c.1842G= (p.Thr614=)
c.1908G= (p.Thr636=)
c.1905G= (p.Thr635=)
c.1878G= (p.Thr626=)
c.1797G= (p.Thr599=)
c.1782G= (p.Thr594=)
c.1389G= (p.Thr463=)
c.1851G= (p.Thr617=)
c.1785G= (p.Thr595=)
c.1743G= (p.Thr581=)
c.816G= (p.Thr272=)
20g.63408500C>GCA511203577KCNQ2c.1854G>C (p.Thr618=)
c.1800G>C (p.Thr600=)
c.126G>C
c.1197G>C (p.Thr399=)
c.1707G>C (p.Thr569=)
c.1368G>C (p.Thr456=)
c.1716G>C (p.Thr572=)
c.1824G>C (p.Thr608=)
c.1788G>C (p.Thr596=)
c.1746G>C (p.Thr582=)
c.1679+4950G>C (n.1679+4950G>C)
c.1842G>C (p.Thr614=)
c.1908G>C (p.Thr636=)
c.1905G>C (p.Thr635=)
c.1878G>C (p.Thr626=)
c.1797G>C (p.Thr599=)
c.1782G>C (p.Thr594=)
c.1389G>C (p.Thr463=)
c.1851G>C (p.Thr617=)
c.1785G>C (p.Thr595=)
c.1743G>C (p.Thr581=)
c.816G>C (p.Thr272=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63408500C>TCA231201KCNQ2c.1854G>A (p.Thr618=)
c.1800G>A (p.Thr600=)
c.126G>A
c.1197G>A (p.Thr399=)
c.1707G>A (p.Thr569=)
c.1368G>A (p.Thr456=)
c.1716G>A (p.Thr572=)
c.1824G>A (p.Thr608=)
c.1788G>A (p.Thr596=)
c.1746G>A (p.Thr582=)
c.1679+4950G>A (n.1679+4950G>A)
c.1842G>A (p.Thr614=)
c.1908G>A (p.Thr636=)
c.1905G>A (p.Thr635=)
c.1878G>A (p.Thr626=)
c.1797G>A (p.Thr599=)
c.1782G>A (p.Thr594=)
c.1389G>A (p.Thr463=)
c.1851G>A (p.Thr617=)
c.1785G>A (p.Thr595=)
c.1743G>A (p.Thr581=)
c.816G>A (p.Thr272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408501G>ACA409640387KCNQ2c.1853C>T (p.Thr618Met)
c.1799C>T (p.Thr600Met)
c.125C>T
c.1196C>T (p.Thr399Met)
c.1706C>T (p.Thr569Met)
c.1367C>T (p.Thr456Met)
c.1715C>T (p.Thr572Met)
c.1823C>T (p.Thr608Met)
c.1787C>T (p.Thr596Met)
c.1745C>T (p.Thr582Met)
c.1679+4949C>T (n.1679+4949C>T)
c.1841C>T (p.Thr614Met)
c.1907C>T (p.Thr636Met)
c.1904C>T (p.Thr635Met)
c.1877C>T (p.Thr626Met)
c.1796C>T (p.Thr599Met)
c.1781C>T (p.Thr594Met)
c.1388C>T (p.Thr463Met)
c.1850C>T (p.Thr617Met)
c.1784C>T (p.Thr595Met)
c.1742C>T (p.Thr581Met)
c.815C>T (p.Thr272Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63408501G>CCA409640389KCNQ2c.1853C>G (p.Thr618Arg)
c.1799C>G (p.Thr600Arg)
c.125C>G
c.1196C>G (p.Thr399Arg)
c.1706C>G (p.Thr569Arg)
c.1367C>G (p.Thr456Arg)
c.1715C>G (p.Thr572Arg)
c.1823C>G (p.Thr608Arg)
c.1787C>G (p.Thr596Arg)
c.1745C>G (p.Thr582Arg)
c.1679+4949C>G (n.1679+4949C>G)
c.1841C>G (p.Thr614Arg)
c.1907C>G (p.Thr636Arg)
c.1904C>G (p.Thr635Arg)
c.1877C>G (p.Thr626Arg)
c.1796C>G (p.Thr599Arg)
c.1781C>G (p.Thr594Arg)
c.1388C>G (p.Thr463Arg)
c.1850C>G (p.Thr617Arg)
c.1784C>G (p.Thr595Arg)
c.1742C>G (p.Thr581Arg)
c.815C>G (p.Thr272Arg)
20g.63408501G=CA2374775231KCNQ2c.1853C= (p.Thr618=)
c.1799C= (p.Thr600=)
c.125C=
c.1196C= (p.Thr399=)
c.1706C= (p.Thr569=)
c.1367C= (p.Thr456=)
c.1715C= (p.Thr572=)
c.1823C= (p.Thr608=)
c.1787C= (p.Thr596=)
c.1745C= (p.Thr582=)
c.1679+4949C= (n.1679+4949C=)
c.1841C= (p.Thr614=)
c.1907C= (p.Thr636=)
c.1904C= (p.Thr635=)
c.1877C= (p.Thr626=)
c.1796C= (p.Thr599=)
c.1781C= (p.Thr594=)
c.1388C= (p.Thr463=)
c.1850C= (p.Thr617=)
c.1784C= (p.Thr595=)
c.1742C= (p.Thr581=)
c.815C= (p.Thr272=)
20g.63408501G>TCA409640391KCNQ2c.1853C>A (p.Thr618Lys)
c.1799C>A (p.Thr600Lys)
c.125C>A
c.1196C>A (p.Thr399Lys)
c.1706C>A (p.Thr569Lys)
c.1367C>A (p.Thr456Lys)
c.1715C>A (p.Thr572Lys)
c.1823C>A (p.Thr608Lys)
c.1787C>A (p.Thr596Lys)
c.1745C>A (p.Thr582Lys)
c.1679+4949C>A (n.1679+4949C>A)
c.1841C>A (p.Thr614Lys)
c.1907C>A (p.Thr636Lys)
c.1904C>A (p.Thr635Lys)
c.1877C>A (p.Thr626Lys)
c.1796C>A (p.Thr599Lys)
c.1781C>A (p.Thr594Lys)
c.1388C>A (p.Thr463Lys)
c.1850C>A (p.Thr617Lys)
c.1784C>A (p.Thr595Lys)
c.1742C>A (p.Thr581Lys)
c.815C>A (p.Thr272Lys)
 gnomAD v4
20g.63408502T>ACA409640392KCNQ2c.1852A>T (p.Thr618Ser)
c.1798A>T (p.Thr600Ser)
c.124A>T
c.1195A>T (p.Thr399Ser)
c.1705A>T (p.Thr569Ser)
c.1366A>T (p.Thr456Ser)
c.1714A>T (p.Thr572Ser)
c.1822A>T (p.Thr608Ser)
c.1786A>T (p.Thr596Ser)
c.1744A>T (p.Thr582Ser)
c.1679+4948A>T (n.1679+4948A>T)
c.1840A>T (p.Thr614Ser)
c.1906A>T (p.Thr636Ser)
c.1903A>T (p.Thr635Ser)
c.1876A>T (p.Thr626Ser)
c.1795A>T (p.Thr599Ser)
c.1780A>T (p.Thr594Ser)
c.1387A>T (p.Thr463Ser)
c.1849A>T (p.Thr617Ser)
c.1783A>T (p.Thr595Ser)
c.1741A>T (p.Thr581Ser)
c.814A>T (p.Thr272Ser)
20g.63408502T>CCA409640395KCNQ2c.1852A>G (p.Thr618Ala)
c.1798A>G (p.Thr600Ala)
c.124A>G
c.1195A>G (p.Thr399Ala)
c.1705A>G (p.Thr569Ala)
c.1366A>G (p.Thr456Ala)
c.1714A>G (p.Thr572Ala)
c.1822A>G (p.Thr608Ala)
c.1786A>G (p.Thr596Ala)
c.1744A>G (p.Thr582Ala)
c.1679+4948A>G (n.1679+4948A>G)
c.1840A>G (p.Thr614Ala)
c.1906A>G (p.Thr636Ala)
c.1903A>G (p.Thr635Ala)
c.1876A>G (p.Thr626Ala)
c.1795A>G (p.Thr599Ala)
c.1780A>G (p.Thr594Ala)
c.1387A>G (p.Thr463Ala)
c.1849A>G (p.Thr617Ala)
c.1783A>G (p.Thr595Ala)
c.1741A>G (p.Thr581Ala)
c.814A>G (p.Thr272Ala)
20g.63408502T>GCA409640393KCNQ2c.1852A>C (p.Thr618Pro)
c.1798A>C (p.Thr600Pro)
c.124A>C
c.1195A>C (p.Thr399Pro)
c.1705A>C (p.Thr569Pro)
c.1366A>C (p.Thr456Pro)
c.1714A>C (p.Thr572Pro)
c.1822A>C (p.Thr608Pro)
c.1786A>C (p.Thr596Pro)
c.1744A>C (p.Thr582Pro)
c.1679+4948A>C (n.1679+4948A>C)
c.1840A>C (p.Thr614Pro)
c.1906A>C (p.Thr636Pro)
c.1903A>C (p.Thr635Pro)
c.1876A>C (p.Thr626Pro)
c.1795A>C (p.Thr599Pro)
c.1780A>C (p.Thr594Pro)
c.1387A>C (p.Thr463Pro)
c.1849A>C (p.Thr617Pro)
c.1783A>C (p.Thr595Pro)
c.1741A>C (p.Thr581Pro)
c.814A>C (p.Thr272Pro)
 dbSNP gnomAD v2 gnomAD v4
20g.63408502T=CA2374775232KCNQ2c.1852A= (p.Thr618=)
c.1798A= (p.Thr600=)
c.124A=
c.1195A= (p.Thr399=)
c.1705A= (p.Thr569=)
c.1366A= (p.Thr456=)
c.1714A= (p.Thr572=)
c.1822A= (p.Thr608=)
c.1786A= (p.Thr596=)
c.1744A= (p.Thr582=)
c.1679+4948A= (n.1679+4948A=)
c.1840A= (p.Thr614=)
c.1906A= (p.Thr636=)
c.1903A= (p.Thr635=)
c.1876A= (p.Thr626=)
c.1795A= (p.Thr599=)
c.1780A= (p.Thr594=)
c.1387A= (p.Thr463=)
c.1849A= (p.Thr617=)
c.1783A= (p.Thr595=)
c.1741A= (p.Thr581=)
c.814A= (p.Thr272=)
20g.63408503G>ACA511203579KCNQ2c.1851C>T (p.Ile617=)
c.1797C>T (p.Ile599=)
c.123C>T
c.1194C>T (p.Ile398=)
c.1704C>T (p.Ile568=)
c.1365C>T (p.Ile455=)
c.1713C>T (p.Ile571=)
c.1821C>T (p.Ile607=)
c.1785C>T (p.Ile595=)
c.1743C>T (p.Ile581=)
c.1679+4947C>T (n.1679+4947C>T)
c.1839C>T (p.Ile613=)
c.1905C>T (p.Ile635=)
c.1902C>T (p.Ile634=)
c.1875C>T (p.Ile625=)
c.1794C>T (p.Ile598=)
c.1779C>T (p.Ile593=)
c.1386C>T (p.Ile462=)
c.1848C>T (p.Ile616=)
c.1782C>T (p.Ile594=)
c.1740C>T (p.Ile580=)
c.813C>T (p.Ile271=)
20g.63408503G>CCA409640397KCNQ2c.1851C>G (p.Ile617Met)
c.1797C>G (p.Ile599Met)
c.123C>G
c.1194C>G (p.Ile398Met)
c.1704C>G (p.Ile568Met)
c.1365C>G (p.Ile455Met)
c.1713C>G (p.Ile571Met)
c.1821C>G (p.Ile607Met)
c.1785C>G (p.Ile595Met)
c.1743C>G (p.Ile581Met)
c.1679+4947C>G (n.1679+4947C>G)
c.1839C>G (p.Ile613Met)
c.1905C>G (p.Ile635Met)
c.1902C>G (p.Ile634Met)
c.1875C>G (p.Ile625Met)
c.1794C>G (p.Ile598Met)
c.1779C>G (p.Ile593Met)
c.1386C>G (p.Ile462Met)
c.1848C>G (p.Ile616Met)
c.1782C>G (p.Ile594Met)
c.1740C>G (p.Ile580Met)
c.813C>G (p.Ile271Met)
20g.63408503G>TCA511203580KCNQ2c.1851C>A (p.Ile617=)
c.1797C>A (p.Ile599=)
c.123C>A
c.1194C>A (p.Ile398=)
c.1704C>A (p.Ile568=)
c.1365C>A (p.Ile455=)
c.1713C>A (p.Ile571=)
c.1821C>A (p.Ile607=)
c.1785C>A (p.Ile595=)
c.1743C>A (p.Ile581=)
c.1679+4947C>A (n.1679+4947C>A)
c.1839C>A (p.Ile613=)
c.1905C>A (p.Ile635=)
c.1902C>A (p.Ile634=)
c.1875C>A (p.Ile625=)
c.1794C>A (p.Ile598=)
c.1779C>A (p.Ile593=)
c.1386C>A (p.Ile462=)
c.1848C>A (p.Ile616=)
c.1782C>A (p.Ile594=)
c.1740C>A (p.Ile580=)
c.813C>A (p.Ile271=)
 gnomAD v4
20g.63408504A>CCA409640398KCNQ2c.1850T>G (p.Ile617Ser)
c.1796T>G (p.Ile599Ser)
c.122T>G
c.1193T>G (p.Ile398Ser)
c.1703T>G (p.Ile568Ser)
c.1364T>G (p.Ile455Ser)
c.1712T>G (p.Ile571Ser)
c.1820T>G (p.Ile607Ser)
c.1784T>G (p.Ile595Ser)
c.1742T>G (p.Ile581Ser)
c.1679+4946T>G (n.1679+4946T>G)
c.1838T>G (p.Ile613Ser)
c.1904T>G (p.Ile635Ser)
c.1901T>G (p.Ile634Ser)
c.1874T>G (p.Ile625Ser)
c.1793T>G (p.Ile598Ser)
c.1778T>G (p.Ile593Ser)
c.1385T>G (p.Ile462Ser)
c.1847T>G (p.Ile616Ser)
c.1781T>G (p.Ile594Ser)
c.1739T>G (p.Ile580Ser)
c.812T>G (p.Ile271Ser)
20g.63408504A>GCA409640400KCNQ2c.1850T>C (p.Ile617Thr)
c.1796T>C (p.Ile599Thr)
c.122T>C
c.1193T>C (p.Ile398Thr)
c.1703T>C (p.Ile568Thr)
c.1364T>C (p.Ile455Thr)
c.1712T>C (p.Ile571Thr)
c.1820T>C (p.Ile607Thr)
c.1784T>C (p.Ile595Thr)
c.1742T>C (p.Ile581Thr)
c.1679+4946T>C (n.1679+4946T>C)
c.1838T>C (p.Ile613Thr)
c.1904T>C (p.Ile635Thr)
c.1901T>C (p.Ile634Thr)
c.1874T>C (p.Ile625Thr)
c.1793T>C (p.Ile598Thr)
c.1778T>C (p.Ile593Thr)
c.1385T>C (p.Ile462Thr)
c.1847T>C (p.Ile616Thr)
c.1781T>C (p.Ile594Thr)
c.1739T>C (p.Ile580Thr)
c.812T>C (p.Ile271Thr)
20g.63408504A>TCA409640401KCNQ2c.1850T>A (p.Ile617Asn)
c.1796T>A (p.Ile599Asn)
c.122T>A
c.1193T>A (p.Ile398Asn)
c.1703T>A (p.Ile568Asn)
c.1364T>A (p.Ile455Asn)
c.1712T>A (p.Ile571Asn)
c.1820T>A (p.Ile607Asn)
c.1784T>A (p.Ile595Asn)
c.1742T>A (p.Ile581Asn)
c.1679+4946T>A (n.1679+4946T>A)
c.1838T>A (p.Ile613Asn)
c.1904T>A (p.Ile635Asn)
c.1901T>A (p.Ile634Asn)
c.1874T>A (p.Ile625Asn)
c.1793T>A (p.Ile598Asn)
c.1778T>A (p.Ile593Asn)
c.1385T>A (p.Ile462Asn)
c.1847T>A (p.Ile616Asn)
c.1781T>A (p.Ile594Asn)
c.1739T>A (p.Ile580Asn)
c.812T>A (p.Ile271Asn)
20g.63408505T>ACA409640403KCNQ2c.1849A>T (p.Ile617Phe)
c.1795A>T (p.Ile599Phe)
c.121A>T
c.1192A>T (p.Ile398Phe)
c.1702A>T (p.Ile568Phe)
c.1363A>T (p.Ile455Phe)
c.1711A>T (p.Ile571Phe)
c.1819A>T (p.Ile607Phe)
c.1783A>T (p.Ile595Phe)
c.1741A>T (p.Ile581Phe)
c.1679+4945A>T (n.1679+4945A>T)
c.1837A>T (p.Ile613Phe)
c.1903A>T (p.Ile635Phe)
c.1900A>T (p.Ile634Phe)
c.1873A>T (p.Ile625Phe)
c.1792A>T (p.Ile598Phe)
c.1777A>T (p.Ile593Phe)
c.1384A>T (p.Ile462Phe)
c.1846A>T (p.Ile616Phe)
c.1780A>T (p.Ile594Phe)
c.1738A>T (p.Ile580Phe)
c.811A>T (p.Ile271Phe)
20g.63408505T>CCA409640404KCNQ2c.1849A>G (p.Ile617Val)
c.1795A>G (p.Ile599Val)
c.121A>G
c.1192A>G (p.Ile398Val)
c.1702A>G (p.Ile568Val)
c.1363A>G (p.Ile455Val)
c.1711A>G (p.Ile571Val)
c.1819A>G (p.Ile607Val)
c.1783A>G (p.Ile595Val)
c.1741A>G (p.Ile581Val)
c.1679+4945A>G (n.1679+4945A>G)
c.1837A>G (p.Ile613Val)
c.1903A>G (p.Ile635Val)
c.1900A>G (p.Ile634Val)
c.1873A>G (p.Ile625Val)
c.1792A>G (p.Ile598Val)
c.1777A>G (p.Ile593Val)
c.1384A>G (p.Ile462Val)
c.1846A>G (p.Ile616Val)
c.1780A>G (p.Ile594Val)
c.1738A>G (p.Ile580Val)
c.811A>G (p.Ile271Val)
20g.63408505T>GCA409640406KCNQ2c.1849A>C (p.Ile617Leu)
c.1795A>C (p.Ile599Leu)
c.121A>C
c.1192A>C (p.Ile398Leu)
c.1702A>C (p.Ile568Leu)
c.1363A>C (p.Ile455Leu)
c.1711A>C (p.Ile571Leu)
c.1819A>C (p.Ile607Leu)
c.1783A>C (p.Ile595Leu)
c.1741A>C (p.Ile581Leu)
c.1679+4945A>C (n.1679+4945A>C)
c.1837A>C (p.Ile613Leu)
c.1903A>C (p.Ile635Leu)
c.1900A>C (p.Ile634Leu)
c.1873A>C (p.Ile625Leu)
c.1792A>C (p.Ile598Leu)
c.1777A>C (p.Ile593Leu)
c.1384A>C (p.Ile462Leu)
c.1846A>C (p.Ile616Leu)
c.1780A>C (p.Ile594Leu)
c.1738A>C (p.Ile580Leu)
c.811A>C (p.Ile271Leu)
20g.63408506C>ACA9958242KCNQ2c.1848G>T (p.Ala616=)
c.1794G>T (p.Ala598=)
c.120G>T
c.1191G>T (p.Ala397=)
c.1701G>T (p.Ala567=)
c.1362G>T (p.Ala454=)
c.1710G>T (p.Ala570=)
c.1818G>T (p.Ala606=)
c.1782G>T (p.Ala594=)
c.1740G>T (p.Ala580=)
c.1679+4944G>T (n.1679+4944G>T)
c.1836G>T (p.Ala612=)
c.1902G>T (p.Ala634=)
c.1899G>T (p.Ala633=)
c.1872G>T (p.Ala624=)
c.1791G>T (p.Ala597=)
c.1776G>T (p.Ala592=)
c.1383G>T (p.Ala461=)
c.1845G>T (p.Ala615=)
c.1779G>T (p.Ala593=)
c.1737G>T (p.Ala579=)
c.810G>T (p.Ala270=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408506C=CA2374775233KCNQ2c.1848G= (p.Ala616=)
c.1794G= (p.Ala598=)
c.120G=
c.1191G= (p.Ala397=)
c.1701G= (p.Ala567=)
c.1362G= (p.Ala454=)
c.1710G= (p.Ala570=)
c.1818G= (p.Ala606=)
c.1782G= (p.Ala594=)
c.1740G= (p.Ala580=)
c.1679+4944G= (n.1679+4944G=)
c.1836G= (p.Ala612=)
c.1902G= (p.Ala634=)
c.1899G= (p.Ala633=)
c.1872G= (p.Ala624=)
c.1791G= (p.Ala597=)
c.1776G= (p.Ala592=)
c.1383G= (p.Ala461=)
c.1845G= (p.Ala615=)
c.1779G= (p.Ala593=)
c.1737G= (p.Ala579=)
c.810G= (p.Ala270=)
20g.63408506C>GCA511203581KCNQ2c.1848G>C (p.Ala616=)
c.1794G>C (p.Ala598=)
c.120G>C
c.1191G>C (p.Ala397=)
c.1701G>C (p.Ala567=)
c.1362G>C (p.Ala454=)
c.1710G>C (p.Ala570=)
c.1818G>C (p.Ala606=)
c.1782G>C (p.Ala594=)
c.1740G>C (p.Ala580=)
c.1679+4944G>C (n.1679+4944G>C)
c.1836G>C (p.Ala612=)
c.1902G>C (p.Ala634=)
c.1899G>C (p.Ala633=)
c.1872G>C (p.Ala624=)
c.1791G>C (p.Ala597=)
c.1776G>C (p.Ala592=)
c.1383G>C (p.Ala461=)
c.1845G>C (p.Ala615=)
c.1779G>C (p.Ala593=)
c.1737G>C (p.Ala579=)
c.810G>C (p.Ala270=)
20g.63408506C>TCA317423712KCNQ2c.1848G>A (p.Ala616=)
c.1794G>A (p.Ala598=)
c.120G>A
c.1191G>A (p.Ala397=)
c.1701G>A (p.Ala567=)
c.1362G>A (p.Ala454=)
c.1710G>A (p.Ala570=)
c.1818G>A (p.Ala606=)
c.1782G>A (p.Ala594=)
c.1740G>A (p.Ala580=)
c.1679+4944G>A (n.1679+4944G>A)
c.1836G>A (p.Ala612=)
c.1902G>A (p.Ala634=)
c.1899G>A (p.Ala633=)
c.1872G>A (p.Ala624=)
c.1791G>A (p.Ala597=)
c.1776G>A (p.Ala592=)
c.1383G>A (p.Ala461=)
c.1845G>A (p.Ala615=)
c.1779G>A (p.Ala593=)
c.1737G>A (p.Ala579=)
c.810G>A (p.Ala270=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408507G>ACA315498KCNQ2c.1847C>T (p.Ala616Val)
c.1793C>T (p.Ala598Val)
c.119C>T
c.1190C>T (p.Ala397Val)
c.1700C>T (p.Ala567Val)
c.1361C>T (p.Ala454Val)
c.1709C>T (p.Ala570Val)
c.1817C>T (p.Ala606Val)
c.1781C>T (p.Ala594Val)
c.1739C>T (p.Ala580Val)
c.1679+4943C>T (n.1679+4943C>T)
c.1835C>T (p.Ala612Val)
c.1901C>T (p.Ala634Val)
c.1898C>T (p.Ala633Val)
c.1871C>T (p.Ala624Val)
c.1790C>T (p.Ala597Val)
c.1775C>T (p.Ala592Val)
c.1382C>T (p.Ala461Val)
c.1844C>T (p.Ala615Val)
c.1778C>T (p.Ala593Val)
c.1736C>T (p.Ala579Val)
c.809C>T (p.Ala270Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63408507G>CCA409640408KCNQ2c.1847C>G (p.Ala616Gly)
c.1793C>G (p.Ala598Gly)
c.119C>G
c.1190C>G (p.Ala397Gly)
c.1700C>G (p.Ala567Gly)
c.1361C>G (p.Ala454Gly)
c.1709C>G (p.Ala570Gly)
c.1817C>G (p.Ala606Gly)
c.1781C>G (p.Ala594Gly)
c.1739C>G (p.Ala580Gly)
c.1679+4943C>G (n.1679+4943C>G)
c.1835C>G (p.Ala612Gly)
c.1901C>G (p.Ala634Gly)
c.1898C>G (p.Ala633Gly)
c.1871C>G (p.Ala624Gly)
c.1790C>G (p.Ala597Gly)
c.1775C>G (p.Ala592Gly)
c.1382C>G (p.Ala461Gly)
c.1844C>G (p.Ala615Gly)
c.1778C>G (p.Ala593Gly)
c.1736C>G (p.Ala579Gly)
c.809C>G (p.Ala270Gly)
20g.63408507G=CA2374775234KCNQ2c.1847C= (p.Ala616=)
c.1793C= (p.Ala598=)
c.119C=
c.1190C= (p.Ala397=)
c.1700C= (p.Ala567=)
c.1361C= (p.Ala454=)
c.1709C= (p.Ala570=)
c.1817C= (p.Ala606=)
c.1781C= (p.Ala594=)
c.1739C= (p.Ala580=)
c.1679+4943C= (n.1679+4943C=)
c.1835C= (p.Ala612=)
c.1901C= (p.Ala634=)
c.1898C= (p.Ala633=)
c.1871C= (p.Ala624=)
c.1790C= (p.Ala597=)
c.1775C= (p.Ala592=)
c.1382C= (p.Ala461=)
c.1844C= (p.Ala615=)
c.1778C= (p.Ala593=)
c.1736C= (p.Ala579=)
c.809C= (p.Ala270=)
20g.63408507G>TCA409640409KCNQ2c.1847C>A (p.Ala616Glu)
c.1793C>A (p.Ala598Glu)
c.119C>A
c.1190C>A (p.Ala397Glu)
c.1700C>A (p.Ala567Glu)
c.1361C>A (p.Ala454Glu)
c.1709C>A (p.Ala570Glu)
c.1817C>A (p.Ala606Glu)
c.1781C>A (p.Ala594Glu)
c.1739C>A (p.Ala580Glu)
c.1679+4943C>A (n.1679+4943C>A)
c.1835C>A (p.Ala612Glu)
c.1901C>A (p.Ala634Glu)
c.1898C>A (p.Ala633Glu)
c.1871C>A (p.Ala624Glu)
c.1790C>A (p.Ala597Glu)
c.1775C>A (p.Ala592Glu)
c.1382C>A (p.Ala461Glu)
c.1844C>A (p.Ala615Glu)
c.1778C>A (p.Ala593Glu)
c.1736C>A (p.Ala579Glu)
c.809C>A (p.Ala270Glu)
 gnomAD v4
20g.63408508C>ACA409640411KCNQ2c.1846G>T (p.Ala616Ser)
c.1792G>T (p.Ala598Ser)
c.118G>T
c.1189G>T (p.Ala397Ser)
c.1699G>T (p.Ala567Ser)
c.1360G>T (p.Ala454Ser)
c.1708G>T (p.Ala570Ser)
c.1816G>T (p.Ala606Ser)
c.1780G>T (p.Ala594Ser)
c.1738G>T (p.Ala580Ser)
c.1679+4942G>T (n.1679+4942G>T)
c.1834G>T (p.Ala612Ser)
c.1900G>T (p.Ala634Ser)
c.1897G>T (p.Ala633Ser)
c.1870G>T (p.Ala624Ser)
c.1789G>T (p.Ala597Ser)
c.1774G>T (p.Ala592Ser)
c.1381G>T (p.Ala461Ser)
c.1843G>T (p.Ala615Ser)
c.1777G>T (p.Ala593Ser)
c.1735G>T (p.Ala579Ser)
c.808G>T (p.Ala270Ser)
20g.63408508C=CA2374775235KCNQ2c.1846G= (p.Ala616=)
c.1792G= (p.Ala598=)
c.118G=
c.1189G= (p.Ala397=)
c.1699G= (p.Ala567=)
c.1360G= (p.Ala454=)
c.1708G= (p.Ala570=)
c.1816G= (p.Ala606=)
c.1780G= (p.Ala594=)
c.1738G= (p.Ala580=)
c.1679+4942G= (n.1679+4942G=)
c.1834G= (p.Ala612=)
c.1900G= (p.Ala634=)
c.1897G= (p.Ala633=)
c.1870G= (p.Ala624=)
c.1789G= (p.Ala597=)
c.1774G= (p.Ala592=)
c.1381G= (p.Ala461=)
c.1843G= (p.Ala615=)
c.1777G= (p.Ala593=)
c.1735G= (p.Ala579=)
c.808G= (p.Ala270=)
20g.63408508C>GCA409640414KCNQ2c.1846G>C (p.Ala616Pro)
c.1792G>C (p.Ala598Pro)
c.118G>C
c.1189G>C (p.Ala397Pro)
c.1699G>C (p.Ala567Pro)
c.1360G>C (p.Ala454Pro)
c.1708G>C (p.Ala570Pro)
c.1816G>C (p.Ala606Pro)
c.1780G>C (p.Ala594Pro)
c.1738G>C (p.Ala580Pro)
c.1679+4942G>C (n.1679+4942G>C)
c.1834G>C (p.Ala612Pro)
c.1900G>C (p.Ala634Pro)
c.1897G>C (p.Ala633Pro)
c.1870G>C (p.Ala624Pro)
c.1789G>C (p.Ala597Pro)
c.1774G>C (p.Ala592Pro)
c.1381G>C (p.Ala461Pro)
c.1843G>C (p.Ala615Pro)
c.1777G>C (p.Ala593Pro)
c.1735G>C (p.Ala579Pro)
c.808G>C (p.Ala270Pro)
20g.63408508C>TCA409640412KCNQ2c.1846G>A (p.Ala616Thr)
c.1792G>A (p.Ala598Thr)
c.118G>A
c.1189G>A (p.Ala397Thr)
c.1699G>A (p.Ala567Thr)
c.1360G>A (p.Ala454Thr)
c.1708G>A (p.Ala570Thr)
c.1816G>A (p.Ala606Thr)
c.1780G>A (p.Ala594Thr)
c.1738G>A (p.Ala580Thr)
c.1679+4942G>A (n.1679+4942G>A)
c.1834G>A (p.Ala612Thr)
c.1900G>A (p.Ala634Thr)
c.1897G>A (p.Ala633Thr)
c.1870G>A (p.Ala624Thr)
c.1789G>A (p.Ala597Thr)
c.1774G>A (p.Ala592Thr)
c.1381G>A (p.Ala461Thr)
c.1843G>A (p.Ala615Thr)
c.1777G>A (p.Ala593Thr)
c.1735G>A (p.Ala579Thr)
c.808G>A (p.Ala270Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.63408509T>ACA511203582KCNQ2c.1845A>T (p.Pro615=)
c.1791A>T (p.Pro597=)
c.117A>T
c.1188A>T (p.Pro396=)
c.1698A>T (p.Pro566=)
c.1359A>T (p.Pro453=)
c.1707A>T (p.Pro569=)
c.1815A>T (p.Pro605=)
c.1779A>T (p.Pro593=)
c.1737A>T (p.Pro579=)
c.1679+4941A>T (n.1679+4941A>T)
c.1833A>T (p.Pro611=)
c.1899A>T (p.Pro633=)
c.1896A>T (p.Pro632=)
c.1869A>T (p.Pro623=)
c.1788A>T (p.Pro596=)
c.1773A>T (p.Pro591=)
c.1380A>T (p.Pro460=)
c.1842A>T (p.Pro614=)
c.1776A>T (p.Pro592=)
c.1734A>T (p.Pro578=)
c.807A>T (p.Pro269=)
20g.63408509T>CCA511203583KCNQ2c.1845A>G (p.Pro615=)
c.1791A>G (p.Pro597=)
c.117A>G
c.1188A>G (p.Pro396=)
c.1698A>G (p.Pro566=)
c.1359A>G (p.Pro453=)
c.1707A>G (p.Pro569=)
c.1815A>G (p.Pro605=)
c.1779A>G (p.Pro593=)
c.1737A>G (p.Pro579=)
c.1679+4941A>G (n.1679+4941A>G)
c.1833A>G (p.Pro611=)
c.1899A>G (p.Pro633=)
c.1896A>G (p.Pro632=)
c.1869A>G (p.Pro623=)
c.1788A>G (p.Pro596=)
c.1773A>G (p.Pro591=)
c.1380A>G (p.Pro460=)
c.1842A>G (p.Pro614=)
c.1776A>G (p.Pro592=)
c.1734A>G (p.Pro578=)
c.807A>G (p.Pro269=)
 dbSNP gnomAD v3 gnomAD v4
20g.63408509T>GCA511203584KCNQ2c.1845A>C (p.Pro615=)
c.1791A>C (p.Pro597=)
c.117A>C
c.1188A>C (p.Pro396=)
c.1698A>C (p.Pro566=)
c.1359A>C (p.Pro453=)
c.1707A>C (p.Pro569=)
c.1815A>C (p.Pro605=)
c.1779A>C (p.Pro593=)
c.1737A>C (p.Pro579=)
c.1679+4941A>C (n.1679+4941A>C)
c.1833A>C (p.Pro611=)
c.1899A>C (p.Pro633=)
c.1896A>C (p.Pro632=)
c.1869A>C (p.Pro623=)
c.1788A>C (p.Pro596=)
c.1773A>C (p.Pro591=)
c.1380A>C (p.Pro460=)
c.1842A>C (p.Pro614=)
c.1776A>C (p.Pro592=)
c.1734A>C (p.Pro578=)
c.807A>C (p.Pro269=)
20g.63408509T=CA2374775236KCNQ2c.1845A= (p.Pro615=)
c.1791A= (p.Pro597=)
c.117A=
c.1188A= (p.Pro396=)
c.1698A= (p.Pro566=)
c.1359A= (p.Pro453=)
c.1707A= (p.Pro569=)
c.1815A= (p.Pro605=)
c.1779A= (p.Pro593=)
c.1737A= (p.Pro579=)
c.1679+4941A= (n.1679+4941A=)
c.1833A= (p.Pro611=)
c.1899A= (p.Pro633=)
c.1896A= (p.Pro632=)
c.1869A= (p.Pro623=)
c.1788A= (p.Pro596=)
c.1773A= (p.Pro591=)
c.1380A= (p.Pro460=)
c.1842A= (p.Pro614=)
c.1776A= (p.Pro592=)
c.1734A= (p.Pro578=)
c.807A= (p.Pro269=)
20g.63408510G>ACA409640415KCNQ2c.1844C>T (p.Pro615Leu)
c.1790C>T (p.Pro597Leu)
c.116C>T
c.1187C>T (p.Pro396Leu)
c.1697C>T (p.Pro566Leu)
c.1358C>T (p.Pro453Leu)
c.1706C>T (p.Pro569Leu)
c.1814C>T (p.Pro605Leu)
c.1778C>T (p.Pro593Leu)
c.1736C>T (p.Pro579Leu)
c.1679+4940C>T (n.1679+4940C>T)
c.1832C>T (p.Pro611Leu)
c.1898C>T (p.Pro633Leu)
c.1895C>T (p.Pro632Leu)
c.1868C>T (p.Pro623Leu)
c.1787C>T (p.Pro596Leu)
c.1772C>T (p.Pro591Leu)
c.1379C>T (p.Pro460Leu)
c.1841C>T (p.Pro614Leu)
c.1775C>T (p.Pro592Leu)
c.1733C>T (p.Pro578Leu)
c.806C>T (p.Pro269Leu)
 gnomAD v4
20g.63408510G>CCA409640416KCNQ2c.1844C>G (p.Pro615Arg)
c.1790C>G (p.Pro597Arg)
c.116C>G
c.1187C>G (p.Pro396Arg)
c.1697C>G (p.Pro566Arg)
c.1358C>G (p.Pro453Arg)
c.1706C>G (p.Pro569Arg)
c.1814C>G (p.Pro605Arg)
c.1778C>G (p.Pro593Arg)
c.1736C>G (p.Pro579Arg)
c.1679+4940C>G (n.1679+4940C>G)
c.1832C>G (p.Pro611Arg)
c.1898C>G (p.Pro633Arg)
c.1895C>G (p.Pro632Arg)
c.1868C>G (p.Pro623Arg)
c.1787C>G (p.Pro596Arg)
c.1772C>G (p.Pro591Arg)
c.1379C>G (p.Pro460Arg)
c.1841C>G (p.Pro614Arg)
c.1775C>G (p.Pro592Arg)
c.1733C>G (p.Pro578Arg)
c.806C>G (p.Pro269Arg)
20g.63408510G=CA2374775237KCNQ2c.1844C= (p.Pro615=)
c.1790C= (p.Pro597=)
c.116C=
c.1187C= (p.Pro396=)
c.1697C= (p.Pro566=)
c.1358C= (p.Pro453=)
c.1706C= (p.Pro569=)
c.1814C= (p.Pro605=)
c.1778C= (p.Pro593=)
c.1736C= (p.Pro579=)
c.1679+4940C= (n.1679+4940C=)
c.1832C= (p.Pro611=)
c.1898C= (p.Pro633=)
c.1895C= (p.Pro632=)
c.1868C= (p.Pro623=)
c.1787C= (p.Pro596=)
c.1772C= (p.Pro591=)
c.1379C= (p.Pro460=)
c.1841C= (p.Pro614=)
c.1775C= (p.Pro592=)
c.1733C= (p.Pro578=)
c.806C= (p.Pro269=)
20g.63408510G>TCA9958243KCNQ2c.1844C>A (p.Pro615Gln)
c.1790C>A (p.Pro597Gln)
c.116C>A
c.1187C>A (p.Pro396Gln)
c.1697C>A (p.Pro566Gln)
c.1358C>A (p.Pro453Gln)
c.1706C>A (p.Pro569Gln)
c.1814C>A (p.Pro605Gln)
c.1778C>A (p.Pro593Gln)
c.1736C>A (p.Pro579Gln)
c.1679+4940C>A (n.1679+4940C>A)
c.1832C>A (p.Pro611Gln)
c.1898C>A (p.Pro633Gln)
c.1895C>A (p.Pro632Gln)
c.1868C>A (p.Pro623Gln)
c.1787C>A (p.Pro596Gln)
c.1772C>A (p.Pro591Gln)
c.1379C>A (p.Pro460Gln)
c.1841C>A (p.Pro614Gln)
c.1775C>A (p.Pro592Gln)
c.1733C>A (p.Pro578Gln)
c.806C>A (p.Pro269Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63408510_63408511insCACAGGGGTGAATGACTGTGGCTGTAGTGAGGACAGCAGGGGCTCTAATCTTCA2741680081KCNQ2c.1843_1844insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro615GlnfsTer3)
c.1789_1790insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro597GlnfsTer3)
c.115_116insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG
c.1186_1187insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro396GlnfsTer3)
c.1696_1697insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro566GlnfsTer3)
c.1357_1358insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro453GlnfsTer3)
c.1705_1706insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro569GlnfsTer3)
c.1813_1814insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro605GlnfsTer3)
c.1777_1778insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro593GlnfsTer3)
c.1735_1736insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro579GlnfsTer3)
c.1679+4939_1679+4940insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (n.1679+4939_1679+4940insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG)
c.1831_1832insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro611GlnfsTer3)
c.1897_1898insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro633GlnfsTer3)
c.1894_1895insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro632GlnfsTer3)
c.1867_1868insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro623GlnfsTer3)
c.1786_1787insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro596GlnfsTer3)
c.1771_1772insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro591GlnfsTer3)
c.1378_1379insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro460GlnfsTer3)
c.1840_1841insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro614GlnfsTer3)
c.1774_1775insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro592GlnfsTer3)
c.1732_1733insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro578GlnfsTer3)
c.805_806insAAGATTAGAGCCCCTGCTGTCCTCACTACAGCCACAGTCATTCACCCCTGTG (p.Pro269GlnfsTer3)
20g.63408511G>ACA409640418KCNQ2c.1843C>T (p.Pro615Ser)
c.1789C>T (p.Pro597Ser)
c.115C>T
c.1186C>T (p.Pro396Ser)
c.1696C>T (p.Pro566Ser)
c.1357C>T (p.Pro453Ser)
c.1705C>T (p.Pro569Ser)
c.1813C>T (p.Pro605Ser)
c.1777C>T (p.Pro593Ser)
c.1735C>T (p.Pro579Ser)
c.1679+4939C>T (n.1679+4939C>T)
c.1831C>T (p.Pro611Ser)
c.1897C>T (p.Pro633Ser)
c.1894C>T (p.Pro632Ser)
c.1867C>T (p.Pro623Ser)
c.1786C>T (p.Pro596Ser)
c.1771C>T (p.Pro591Ser)
c.1378C>T (p.Pro460Ser)
c.1840C>T (p.Pro614Ser)
c.1774C>T (p.Pro592Ser)
c.1732C>T (p.Pro578Ser)
c.805C>T (p.Pro269Ser)
20g.63408511G>CCA409640420KCNQ2c.1843C>G (p.Pro615Ala)
c.1789C>G (p.Pro597Ala)
c.115C>G
c.1186C>G (p.Pro396Ala)
c.1696C>G (p.Pro566Ala)
c.1357C>G (p.Pro453Ala)
c.1705C>G (p.Pro569Ala)
c.1813C>G (p.Pro605Ala)
c.1777C>G (p.Pro593Ala)
c.1735C>G (p.Pro579Ala)
c.1679+4939C>G (n.1679+4939C>G)
c.1831C>G (p.Pro611Ala)
c.1897C>G (p.Pro633Ala)
c.1894C>G (p.Pro632Ala)
c.1867C>G (p.Pro623Ala)
c.1786C>G (p.Pro596Ala)
c.1771C>G (p.Pro591Ala)
c.1378C>G (p.Pro460Ala)
c.1840C>G (p.Pro614Ala)
c.1774C>G (p.Pro592Ala)
c.1732C>G (p.Pro578Ala)
c.805C>G (p.Pro269Ala)
 ClinVar
20g.63408511G>TCA409640421KCNQ2c.1843C>A (p.Pro615Thr)
c.1789C>A (p.Pro597Thr)
c.115C>A
c.1186C>A (p.Pro396Thr)
c.1696C>A (p.Pro566Thr)
c.1357C>A (p.Pro453Thr)
c.1705C>A (p.Pro569Thr)
c.1813C>A (p.Pro605Thr)
c.1777C>A (p.Pro593Thr)
c.1735C>A (p.Pro579Thr)
c.1679+4939C>A (n.1679+4939C>A)
c.1831C>A (p.Pro611Thr)
c.1897C>A (p.Pro633Thr)
c.1894C>A (p.Pro632Thr)
c.1867C>A (p.Pro623Thr)
c.1786C>A (p.Pro596Thr)
c.1771C>A (p.Pro591Thr)
c.1378C>A (p.Pro460Thr)
c.1840C>A (p.Pro614Thr)
c.1774C>A (p.Pro592Thr)
c.1732C>A (p.Pro578Thr)
c.805C>A (p.Pro269Thr)
 COSMIC COSMIC COSMIC
20g.63408512G>ACA511203585KCNQ2c.1842C>T (p.Gly614=)
c.1788C>T (p.Gly596=)
c.114C>T
c.1185C>T (p.Gly395=)
c.1695C>T (p.Gly565=)
c.1356C>T (p.Gly452=)
c.1704C>T (p.Gly568=)
c.1812C>T (p.Gly604=)
c.1776C>T (p.Gly592=)
c.1734C>T (p.Gly578=)
c.1679+4938C>T (n.1679+4938C>T)
c.1830C>T (p.Gly610=)
c.1896C>T (p.Gly632=)
c.1893C>T (p.Gly631=)
c.1866C>T (p.Gly622=)
c.1785C>T (p.Gly595=)
c.1770C>T (p.Gly590=)
c.1377C>T (p.Gly459=)
c.1839C>T (p.Gly613=)
c.1773C>T (p.Gly591=)
c.1731C>T (p.Gly577=)
c.804C>T (p.Gly268=)
20g.63408512G>CCA511203587KCNQ2c.1842C>G (p.Gly614=)
c.1788C>G (p.Gly596=)
c.114C>G
c.1185C>G (p.Gly395=)
c.1695C>G (p.Gly565=)
c.1356C>G (p.Gly452=)
c.1704C>G (p.Gly568=)
c.1812C>G (p.Gly604=)
c.1776C>G (p.Gly592=)
c.1734C>G (p.Gly578=)
c.1679+4938C>G (n.1679+4938C>G)
c.1830C>G (p.Gly610=)
c.1896C>G (p.Gly632=)
c.1893C>G (p.Gly631=)
c.1866C>G (p.Gly622=)
c.1785C>G (p.Gly595=)
c.1770C>G (p.Gly590=)
c.1377C>G (p.Gly459=)
c.1839C>G (p.Gly613=)
c.1773C>G (p.Gly591=)
c.1731C>G (p.Gly577=)
c.804C>G (p.Gly268=)
20g.63408512G>TCA511203586KCNQ2c.1842C>A (p.Gly614=)
c.1788C>A (p.Gly596=)
c.114C>A
c.1185C>A (p.Gly395=)
c.1695C>A (p.Gly565=)
c.1356C>A (p.Gly452=)
c.1704C>A (p.Gly568=)
c.1812C>A (p.Gly604=)
c.1776C>A (p.Gly592=)
c.1734C>A (p.Gly578=)
c.1679+4938C>A (n.1679+4938C>A)
c.1830C>A (p.Gly610=)
c.1896C>A (p.Gly632=)
c.1893C>A (p.Gly631=)
c.1866C>A (p.Gly622=)
c.1785C>A (p.Gly595=)
c.1770C>A (p.Gly590=)
c.1377C>A (p.Gly459=)
c.1839C>A (p.Gly613=)
c.1773C>A (p.Gly591=)
c.1731C>A (p.Gly577=)
c.804C>A (p.Gly268=)
 gnomAD v4
20g.63408513C>ACA409640422KCNQ2c.1841G>T (p.Gly614Val)
c.1787G>T (p.Gly596Val)
c.113G>T
c.1184G>T (p.Gly395Val)
c.1694G>T (p.Gly565Val)
c.1355G>T (p.Gly452Val)
c.1703G>T (p.Gly568Val)
c.1811G>T (p.Gly604Val)
c.1775G>T (p.Gly592Val)
c.1733G>T (p.Gly578Val)
c.1679+4937G>T (n.1679+4937G>T)
c.1829G>T (p.Gly610Val)
c.1895G>T (p.Gly632Val)
c.1892G>T (p.Gly631Val)
c.1865G>T (p.Gly622Val)
c.1784G>T (p.Gly595Val)
c.1769G>T (p.Gly590Val)
c.1376G>T (p.Gly459Val)
c.1838G>T (p.Gly613Val)
c.1772G>T (p.Gly591Val)
c.1730G>T (p.Gly577Val)
c.803G>T (p.Gly268Val)
20g.63408513C>GCA409640424KCNQ2c.1841G>C (p.Gly614Ala)
c.1787G>C (p.Gly596Ala)
c.113G>C
c.1184G>C (p.Gly395Ala)
c.1694G>C (p.Gly565Ala)
c.1355G>C (p.Gly452Ala)
c.1703G>C (p.Gly568Ala)
c.1811G>C (p.Gly604Ala)
c.1775G>C (p.Gly592Ala)
c.1733G>C (p.Gly578Ala)
c.1679+4937G>C (n.1679+4937G>C)
c.1829G>C (p.Gly610Ala)
c.1895G>C (p.Gly632Ala)
c.1892G>C (p.Gly631Ala)
c.1865G>C (p.Gly622Ala)
c.1784G>C (p.Gly595Ala)
c.1769G>C (p.Gly590Ala)
c.1376G>C (p.Gly459Ala)
c.1838G>C (p.Gly613Ala)
c.1772G>C (p.Gly591Ala)
c.1730G>C (p.Gly577Ala)
c.803G>C (p.Gly268Ala)
 ClinVar dbSNP
20g.63408513C>TCA409640425KCNQ2c.1841G>A (p.Gly614Asp)
c.1787G>A (p.Gly596Asp)
c.113G>A
c.1184G>A (p.Gly395Asp)
c.1694G>A (p.Gly565Asp)
c.1355G>A (p.Gly452Asp)
c.1703G>A (p.Gly568Asp)
c.1811G>A (p.Gly604Asp)
c.1775G>A (p.Gly592Asp)
c.1733G>A (p.Gly578Asp)
c.1679+4937G>A (n.1679+4937G>A)
c.1829G>A (p.Gly610Asp)
c.1895G>A (p.Gly632Asp)
c.1892G>A (p.Gly631Asp)
c.1865G>A (p.Gly622Asp)
c.1784G>A (p.Gly595Asp)
c.1769G>A (p.Gly590Asp)
c.1376G>A (p.Gly459Asp)
c.1838G>A (p.Gly613Asp)
c.1772G>A (p.Gly591Asp)
c.1730G>A (p.Gly577Asp)
c.803G>A (p.Gly268Asp)
20g.63408514C>ACA409640426KCNQ2c.1840G>T (p.Gly614Cys)
c.1786G>T (p.Gly596Cys)
c.112G>T
c.1183G>T (p.Gly395Cys)
c.1693G>T (p.Gly565Cys)
c.1354G>T (p.Gly452Cys)
c.1702G>T (p.Gly568Cys)
c.1810G>T (p.Gly604Cys)
c.1774G>T (p.Gly592Cys)
c.1732G>T (p.Gly578Cys)
c.1679+4936G>T (n.1679+4936G>T)
c.1828G>T (p.Gly610Cys)
c.1894G>T (p.Gly632Cys)
c.1891G>T (p.Gly631Cys)
c.1864G>T (p.Gly622Cys)
c.1783G>T (p.Gly595Cys)
c.1768G>T (p.Gly590Cys)
c.1375G>T (p.Gly459Cys)
c.1837G>T (p.Gly613Cys)
c.1771G>T (p.Gly591Cys)
c.1729G>T (p.Gly577Cys)
c.802G>T (p.Gly268Cys)
20g.63408514C>GCA409640427KCNQ2c.1840G>C (p.Gly614Arg)
c.1786G>C (p.Gly596Arg)
c.112G>C
c.1183G>C (p.Gly395Arg)
c.1693G>C (p.Gly565Arg)
c.1354G>C (p.Gly452Arg)
c.1702G>C (p.Gly568Arg)
c.1810G>C (p.Gly604Arg)
c.1774G>C (p.Gly592Arg)
c.1732G>C (p.Gly578Arg)
c.1679+4936G>C (n.1679+4936G>C)
c.1828G>C (p.Gly610Arg)
c.1894G>C (p.Gly632Arg)
c.1891G>C (p.Gly631Arg)
c.1864G>C (p.Gly622Arg)
c.1783G>C (p.Gly595Arg)
c.1768G>C (p.Gly590Arg)
c.1375G>C (p.Gly459Arg)
c.1837G>C (p.Gly613Arg)
c.1771G>C (p.Gly591Arg)
c.1729G>C (p.Gly577Arg)
c.802G>C (p.Gly268Arg)
20g.63408514C>TCA409640428KCNQ2c.1840G>A (p.Gly614Ser)
c.1786G>A (p.Gly596Ser)
c.112G>A
c.1183G>A (p.Gly395Ser)
c.1693G>A (p.Gly565Ser)
c.1354G>A (p.Gly452Ser)
c.1702G>A (p.Gly568Ser)
c.1810G>A (p.Gly604Ser)
c.1774G>A (p.Gly592Ser)
c.1732G>A (p.Gly578Ser)
c.1679+4936G>A (n.1679+4936G>A)
c.1828G>A (p.Gly610Ser)
c.1894G>A (p.Gly632Ser)
c.1891G>A (p.Gly631Ser)
c.1864G>A (p.Gly622Ser)
c.1783G>A (p.Gly595Ser)
c.1768G>A (p.Gly590Ser)
c.1375G>A (p.Gly459Ser)
c.1837G>A (p.Gly613Ser)
c.1771G>A (p.Gly591Ser)
c.1729G>A (p.Gly577Ser)
c.802G>A (p.Gly268Ser)
 dbSNP
20g.63408515C>ACA511203588KCNQ2c.1839G>T (p.Arg613=)
c.1785G>T (p.Arg595=)
c.111G>T
c.1182G>T (p.Arg394=)
c.1692G>T (p.Arg564=)
c.1353G>T (p.Arg451=)
c.1701G>T (p.Arg567=)
c.1809G>T (p.Arg603=)
c.1773G>T (p.Arg591=)
c.1731G>T (p.Arg577=)
c.1679+4935G>T (n.1679+4935G>T)
c.1827G>T (p.Arg609=)
c.1893G>T (p.Arg631=)
c.1890G>T (p.Arg630=)
c.1863G>T (p.Arg621=)
c.1782G>T (p.Arg594=)
c.1767G>T (p.Arg589=)
c.1374G>T (p.Arg458=)
c.1836G>T (p.Arg612=)
c.1770G>T (p.Arg590=)
c.1728G>T (p.Arg576=)
c.801G>T (p.Arg267=)
20g.63408515C>GCA511203589KCNQ2c.1839G>C (p.Arg613=)
c.1785G>C (p.Arg595=)
c.111G>C
c.1182G>C (p.Arg394=)
c.1692G>C (p.Arg564=)
c.1353G>C (p.Arg451=)
c.1701G>C (p.Arg567=)
c.1809G>C (p.Arg603=)
c.1773G>C (p.Arg591=)
c.1731G>C (p.Arg577=)
c.1679+4935G>C (n.1679+4935G>C)
c.1827G>C (p.Arg609=)
c.1893G>C (p.Arg631=)
c.1890G>C (p.Arg630=)
c.1863G>C (p.Arg621=)
c.1782G>C (p.Arg594=)
c.1767G>C (p.Arg589=)
c.1374G>C (p.Arg458=)
c.1836G>C (p.Arg612=)
c.1770G>C (p.Arg590=)
c.1728G>C (p.Arg576=)
c.801G>C (p.Arg267=)
20g.63408515C>TCA511203590KCNQ2c.1839G>A (p.Arg613=)
c.1785G>A (p.Arg595=)
c.111G>A
c.1182G>A (p.Arg394=)
c.1692G>A (p.Arg564=)
c.1353G>A (p.Arg451=)
c.1701G>A (p.Arg567=)
c.1809G>A (p.Arg603=)
c.1773G>A (p.Arg591=)
c.1731G>A (p.Arg577=)
c.1679+4935G>A (n.1679+4935G>A)
c.1827G>A (p.Arg609=)
c.1893G>A (p.Arg631=)
c.1890G>A (p.Arg630=)
c.1863G>A (p.Arg621=)
c.1782G>A (p.Arg594=)
c.1767G>A (p.Arg589=)
c.1374G>A (p.Arg458=)
c.1836G>A (p.Arg612=)
c.1770G>A (p.Arg590=)
c.1728G>A (p.Arg576=)
c.801G>A (p.Arg267=)
20g.63408516C>ACA409640433KCNQ2c.1838G>T (p.Arg613Leu)
c.1784G>T (p.Arg595Leu)
c.110G>T
c.1181G>T (p.Arg394Leu)
c.1691G>T (p.Arg564Leu)
c.1352G>T (p.Arg451Leu)
c.1700G>T (p.Arg567Leu)
c.1808G>T (p.Arg603Leu)
c.1772G>T (p.Arg591Leu)
c.1730G>T (p.Arg577Leu)
c.1679+4934G>T (n.1679+4934G>T)
c.1826G>T (p.Arg609Leu)
c.1892G>T (p.Arg631Leu)
c.1889G>T (p.Arg630Leu)
c.1862G>T (p.Arg621Leu)
c.1781G>T (p.Arg594Leu)
c.1766G>T (p.Arg589Leu)
c.1373G>T (p.Arg458Leu)
c.1835G>T (p.Arg612Leu)
c.1769G>T (p.Arg590Leu)
c.1727G>T (p.Arg576Leu)
c.800G>T (p.Arg267Leu)
 gnomAD v4
20g.63408516C=CA2374775238KCNQ2c.1838G= (p.Arg613=)
c.1784G= (p.Arg595=)
c.110G=
c.1181G= (p.Arg394=)
c.1691G= (p.Arg564=)
c.1352G= (p.Arg451=)
c.1700G= (p.Arg567=)
c.1808G= (p.Arg603=)
c.1772G= (p.Arg591=)
c.1730G= (p.Arg577=)
c.1679+4934G= (n.1679+4934G=)
c.1826G= (p.Arg609=)
c.1892G= (p.Arg631=)
c.1889G= (p.Arg630=)
c.1862G= (p.Arg621=)
c.1781G= (p.Arg594=)
c.1766G= (p.Arg589=)
c.1373G= (p.Arg458=)
c.1835G= (p.Arg612=)
c.1769G= (p.Arg590=)
c.1727G= (p.Arg576=)
c.800G= (p.Arg267=)
20g.63408516C>GCA409640430KCNQ2c.1838G>C (p.Arg613Pro)
c.1784G>C (p.Arg595Pro)
c.110G>C
c.1181G>C (p.Arg394Pro)
c.1691G>C (p.Arg564Pro)
c.1352G>C (p.Arg451Pro)
c.1700G>C (p.Arg567Pro)
c.1808G>C (p.Arg603Pro)
c.1772G>C (p.Arg591Pro)
c.1730G>C (p.Arg577Pro)
c.1679+4934G>C (n.1679+4934G>C)
c.1826G>C (p.Arg609Pro)
c.1892G>C (p.Arg631Pro)
c.1889G>C (p.Arg630Pro)
c.1862G>C (p.Arg621Pro)
c.1781G>C (p.Arg594Pro)
c.1766G>C (p.Arg589Pro)
c.1373G>C (p.Arg458Pro)
c.1835G>C (p.Arg612Pro)
c.1769G>C (p.Arg590Pro)
c.1727G>C (p.Arg576Pro)
c.800G>C (p.Arg267Pro)
 gnomAD v4 COSMIC
20g.63408516C>TCA409640431KCNQ2c.1838G>A (p.Arg613Gln)
c.1784G>A (p.Arg595Gln)
c.110G>A
c.1181G>A (p.Arg394Gln)
c.1691G>A (p.Arg564Gln)
c.1352G>A (p.Arg451Gln)
c.1700G>A (p.Arg567Gln)
c.1808G>A (p.Arg603Gln)
c.1772G>A (p.Arg591Gln)
c.1730G>A (p.Arg577Gln)
c.1679+4934G>A (n.1679+4934G>A)
c.1826G>A (p.Arg609Gln)
c.1892G>A (p.Arg631Gln)
c.1889G>A (p.Arg630Gln)
c.1862G>A (p.Arg621Gln)
c.1781G>A (p.Arg594Gln)
c.1766G>A (p.Arg589Gln)
c.1373G>A (p.Arg458Gln)
c.1835G>A (p.Arg612Gln)
c.1769G>A (p.Arg590Gln)
c.1727G>A (p.Arg576Gln)
c.800G>A (p.Arg267Gln)
 dbSNP gnomAD v2 gnomAD v4
20g.63408517G>ACA10654779KCNQ2c.1837C>T (p.Arg613Trp)
c.1783C>T (p.Arg595Trp)
c.109C>T
c.1180C>T (p.Arg394Trp)
c.1690C>T (p.Arg564Trp)
c.1351C>T (p.Arg451Trp)
c.1699C>T (p.Arg567Trp)
c.1807C>T (p.Arg603Trp)
c.1771C>T (p.Arg591Trp)
c.1729C>T (p.Arg577Trp)
c.1679+4933C>T (n.1679+4933C>T)
c.1825C>T (p.Arg609Trp)
c.1891C>T (p.Arg631Trp)
c.1888C>T (p.Arg630Trp)
c.1861C>T (p.Arg621Trp)
c.1780C>T (p.Arg594Trp)
c.1765C>T (p.Arg589Trp)
c.1372C>T (p.Arg458Trp)
c.1834C>T (p.Arg612Trp)
c.1768C>T (p.Arg590Trp)
c.1726C>T (p.Arg576Trp)
c.799C>T (p.Arg267Trp)
 ClinVar dbSNP
20g.63408517G>CCA409640435KCNQ2c.1837C>G (p.Arg613Gly)
c.1783C>G (p.Arg595Gly)
c.109C>G
c.1180C>G (p.Arg394Gly)
c.1690C>G (p.Arg564Gly)
c.1351C>G (p.Arg451Gly)
c.1699C>G (p.Arg567Gly)
c.1807C>G (p.Arg603Gly)
c.1771C>G (p.Arg591Gly)
c.1729C>G (p.Arg577Gly)
c.1679+4933C>G (n.1679+4933C>G)
c.1825C>G (p.Arg609Gly)
c.1891C>G (p.Arg631Gly)
c.1888C>G (p.Arg630Gly)
c.1861C>G (p.Arg621Gly)
c.1780C>G (p.Arg594Gly)
c.1765C>G (p.Arg589Gly)
c.1372C>G (p.Arg458Gly)
c.1834C>G (p.Arg612Gly)
c.1768C>G (p.Arg590Gly)
c.1726C>G (p.Arg576Gly)
c.799C>G (p.Arg267Gly)
20g.63408517G=CA2374775239KCNQ2c.1837C= (p.Arg613=)
c.1783C= (p.Arg595=)
c.109C=
c.1180C= (p.Arg394=)
c.1690C= (p.Arg564=)
c.1351C= (p.Arg451=)
c.1699C= (p.Arg567=)
c.1807C= (p.Arg603=)
c.1771C= (p.Arg591=)
c.1729C= (p.Arg577=)
c.1679+4933C= (n.1679+4933C=)
c.1825C= (p.Arg609=)
c.1891C= (p.Arg631=)
c.1888C= (p.Arg630=)
c.1861C= (p.Arg621=)
c.1780C= (p.Arg594=)
c.1765C= (p.Arg589=)
c.1372C= (p.Arg458=)
c.1834C= (p.Arg612=)
c.1768C= (p.Arg590=)
c.1726C= (p.Arg576=)
c.799C= (p.Arg267=)
20g.63408517G>TCA511203591KCNQ2c.1837C>A (p.Arg613=)
c.1783C>A (p.Arg595=)
c.109C>A
c.1180C>A (p.Arg394=)
c.1690C>A (p.Arg564=)
c.1351C>A (p.Arg451=)
c.1699C>A (p.Arg567=)
c.1807C>A (p.Arg603=)
c.1771C>A (p.Arg591=)
c.1729C>A (p.Arg577=)
c.1679+4933C>A (n.1679+4933C>A)
c.1825C>A (p.Arg609=)
c.1891C>A (p.Arg631=)
c.1888C>A (p.Arg630=)
c.1861C>A (p.Arg621=)
c.1780C>A (p.Arg594=)
c.1765C>A (p.Arg589=)
c.1372C>A (p.Arg458=)
c.1834C>A (p.Arg612=)
c.1768C>A (p.Arg590=)
c.1726C>A (p.Arg576=)
c.799C>A (p.Arg267=)
 gnomAD v4
20g.63408518C>ACA511203592KCNQ2c.1836G>T (p.Gly612=)
c.1782G>T (p.Gly594=)
c.108G>T
c.1179G>T (p.Gly393=)
c.1689G>T (p.Gly563=)
c.1350G>T (p.Gly450=)
c.1698G>T (p.Gly566=)
c.1806G>T (p.Gly602=)
c.1770G>T (p.Gly590=)
c.1728G>T (p.Gly576=)
c.1679+4932G>T (n.1679+4932G>T)
c.1824G>T (p.Gly608=)
c.1890G>T (p.Gly630=)
c.1887G>T (p.Gly629=)
c.1860G>T (p.Gly620=)
c.1779G>T (p.Gly593=)
c.1764G>T (p.Gly588=)
c.1371G>T (p.Gly457=)
c.1833G>T (p.Gly611=)
c.1767G>T (p.Gly589=)
c.1725G>T (p.Gly575=)
c.798G>T (p.Gly266=)
20g.63408518C>GCA511203593KCNQ2c.1836G>C (p.Gly612=)
c.1782G>C (p.Gly594=)
c.108G>C
c.1179G>C (p.Gly393=)
c.1689G>C (p.Gly563=)
c.1350G>C (p.Gly450=)
c.1698G>C (p.Gly566=)
c.1806G>C (p.Gly602=)
c.1770G>C (p.Gly590=)
c.1728G>C (p.Gly576=)
c.1679+4932G>C (n.1679+4932G>C)
c.1824G>C (p.Gly608=)
c.1890G>C (p.Gly630=)
c.1887G>C (p.Gly629=)
c.1860G>C (p.Gly620=)
c.1779G>C (p.Gly593=)
c.1764G>C (p.Gly588=)
c.1371G>C (p.Gly457=)
c.1833G>C (p.Gly611=)
c.1767G>C (p.Gly589=)
c.1725G>C (p.Gly575=)
c.798G>C (p.Gly266=)
20g.63408518C>TCA511203594KCNQ2c.1836G>A (p.Gly612=)
c.1782G>A (p.Gly594=)
c.108G>A
c.1179G>A (p.Gly393=)
c.1689G>A (p.Gly563=)
c.1350G>A (p.Gly450=)
c.1698G>A (p.Gly566=)
c.1806G>A (p.Gly602=)
c.1770G>A (p.Gly590=)
c.1728G>A (p.Gly576=)
c.1679+4932G>A (n.1679+4932G>A)
c.1824G>A (p.Gly608=)
c.1890G>A (p.Gly630=)
c.1887G>A (p.Gly629=)
c.1860G>A (p.Gly620=)
c.1779G>A (p.Gly593=)
c.1764G>A (p.Gly588=)
c.1371G>A (p.Gly457=)
c.1833G>A (p.Gly611=)
c.1767G>A (p.Gly589=)
c.1725G>A (p.Gly575=)
c.798G>A (p.Gly266=)
 ClinVar gnomAD v4
20g.63408519C>ACA409640436KCNQ2c.1835G>T (p.Gly612Val)
c.1781G>T (p.Gly594Val)
c.107G>T
c.1178G>T (p.Gly393Val)
c.1688G>T (p.Gly563Val)
c.1349G>T (p.Gly450Val)
c.1697G>T (p.Gly566Val)
c.1805G>T (p.Gly602Val)
c.1769G>T (p.Gly590Val)
c.1727G>T (p.Gly576Val)
c.1679+4931G>T (n.1679+4931G>T)
c.1823G>T (p.Gly608Val)
c.1889G>T (p.Gly630Val)
c.1886G>T (p.Gly629Val)
c.1859G>T (p.Gly620Val)
c.1778G>T (p.Gly593Val)
c.1763G>T (p.Gly588Val)
c.1370G>T (p.Gly457Val)
c.1832G>T (p.Gly611Val)
c.1766G>T (p.Gly589Val)
c.1724G>T (p.Gly575Val)
c.797G>T (p.Gly266Val)
20g.63408519C>GCA409640438KCNQ2c.1835G>C (p.Gly612Ala)
c.1781G>C (p.Gly594Ala)
c.107G>C
c.1178G>C (p.Gly393Ala)
c.1688G>C (p.Gly563Ala)
c.1349G>C (p.Gly450Ala)
c.1697G>C (p.Gly566Ala)
c.1805G>C (p.Gly602Ala)
c.1769G>C (p.Gly590Ala)
c.1727G>C (p.Gly576Ala)
c.1679+4931G>C (n.1679+4931G>C)
c.1823G>C (p.Gly608Ala)
c.1889G>C (p.Gly630Ala)
c.1886G>C (p.Gly629Ala)
c.1859G>C (p.Gly620Ala)
c.1778G>C (p.Gly593Ala)
c.1763G>C (p.Gly588Ala)
c.1370G>C (p.Gly457Ala)
c.1832G>C (p.Gly611Ala)
c.1766G>C (p.Gly589Ala)
c.1724G>C (p.Gly575Ala)
c.797G>C (p.Gly266Ala)
20g.63408519C>TCA409640440KCNQ2c.1835G>A (p.Gly612Glu)
c.1781G>A (p.Gly594Glu)
c.107G>A
c.1178G>A (p.Gly393Glu)
c.1688G>A (p.Gly563Glu)
c.1349G>A (p.Gly450Glu)
c.1697G>A (p.Gly566Glu)
c.1805G>A (p.Gly602Glu)
c.1769G>A (p.Gly590Glu)
c.1727G>A (p.Gly576Glu)
c.1679+4931G>A (n.1679+4931G>A)
c.1823G>A (p.Gly608Glu)
c.1889G>A (p.Gly630Glu)
c.1886G>A (p.Gly629Glu)
c.1859G>A (p.Gly620Glu)
c.1778G>A (p.Gly593Glu)
c.1763G>A (p.Gly588Glu)
c.1370G>A (p.Gly457Glu)
c.1832G>A (p.Gly611Glu)
c.1766G>A (p.Gly589Glu)
c.1724G>A (p.Gly575Glu)
c.797G>A (p.Gly266Glu)
20g.63408520C>ACA409640442KCNQ2c.1834G>T (p.Gly612Trp)
c.1780G>T (p.Gly594Trp)
c.106G>T
c.1177G>T (p.Gly393Trp)
c.1687G>T (p.Gly563Trp)
c.1348G>T (p.Gly450Trp)
c.1696G>T (p.Gly566Trp)
c.1804G>T (p.Gly602Trp)
c.1768G>T (p.Gly590Trp)
c.1726G>T (p.Gly576Trp)
c.1679+4930G>T (n.1679+4930G>T)
c.1822G>T (p.Gly608Trp)
c.1888G>T (p.Gly630Trp)
c.1885G>T (p.Gly629Trp)
c.1858G>T (p.Gly620Trp)
c.1777G>T (p.Gly593Trp)
c.1762G>T (p.Gly588Trp)
c.1369G>T (p.Gly457Trp)
c.1831G>T (p.Gly611Trp)
c.1765G>T (p.Gly589Trp)
c.1723G>T (p.Gly575Trp)
c.796G>T (p.Gly266Trp)
 gnomAD v4
20g.63408520C>GCA409640443KCNQ2c.1834G>C (p.Gly612Arg)
c.1780G>C (p.Gly594Arg)
c.106G>C
c.1177G>C (p.Gly393Arg)
c.1687G>C (p.Gly563Arg)
c.1348G>C (p.Gly450Arg)
c.1696G>C (p.Gly566Arg)
c.1804G>C (p.Gly602Arg)
c.1768G>C (p.Gly590Arg)
c.1726G>C (p.Gly576Arg)
c.1679+4930G>C (n.1679+4930G>C)
c.1822G>C (p.Gly608Arg)
c.1888G>C (p.Gly630Arg)
c.1885G>C (p.Gly629Arg)
c.1858G>C (p.Gly620Arg)
c.1777G>C (p.Gly593Arg)
c.1762G>C (p.Gly588Arg)
c.1369G>C (p.Gly457Arg)
c.1831G>C (p.Gly611Arg)
c.1765G>C (p.Gly589Arg)
c.1723G>C (p.Gly575Arg)
c.796G>C (p.Gly266Arg)
20g.63408520C>TCA409640444KCNQ2c.1834G>A (p.Gly612Arg)
c.1780G>A (p.Gly594Arg)
c.106G>A
c.1177G>A (p.Gly393Arg)
c.1687G>A (p.Gly563Arg)
c.1348G>A (p.Gly450Arg)
c.1696G>A (p.Gly566Arg)
c.1804G>A (p.Gly602Arg)
c.1768G>A (p.Gly590Arg)
c.1726G>A (p.Gly576Arg)
c.1679+4930G>A (n.1679+4930G>A)
c.1822G>A (p.Gly608Arg)
c.1888G>A (p.Gly630Arg)
c.1885G>A (p.Gly629Arg)
c.1858G>A (p.Gly620Arg)
c.1777G>A (p.Gly593Arg)
c.1762G>A (p.Gly588Arg)
c.1369G>A (p.Gly457Arg)
c.1831G>A (p.Gly611Arg)
c.1765G>A (p.Gly589Arg)
c.1723G>A (p.Gly575Arg)
c.796G>A (p.Gly266Arg)
20g.63408521C>ACA511203597KCNQ2c.1833G>T (p.Val611=)
c.1779G>T (p.Val593=)
c.105G>T
c.1176G>T (p.Val392=)
c.1686G>T (p.Val562=)
c.1347G>T (p.Val449=)
c.1695G>T (p.Val565=)
c.1803G>T (p.Val601=)
c.1767G>T (p.Val589=)
c.1725G>T (p.Val575=)
c.1679+4929G>T (n.1679+4929G>T)
c.1821G>T (p.Val607=)
c.1887G>T (p.Val629=)
c.1884G>T (p.Val628=)
c.1857G>T (p.Val619=)
c.1776G>T (p.Val592=)
c.1761G>T (p.Val587=)
c.1368G>T (p.Val456=)
c.1830G>T (p.Val610=)
c.1764G>T (p.Val588=)
c.1722G>T (p.Val574=)
c.795G>T (p.Val265=)
20g.63408521C>GCA511203595KCNQ2c.1833G>C (p.Val611=)
c.1779G>C (p.Val593=)
c.105G>C
c.1176G>C (p.Val392=)
c.1686G>C (p.Val562=)
c.1347G>C (p.Val449=)
c.1695G>C (p.Val565=)
c.1803G>C (p.Val601=)
c.1767G>C (p.Val589=)
c.1725G>C (p.Val575=)
c.1679+4929G>C (n.1679+4929G>C)
c.1821G>C (p.Val607=)
c.1887G>C (p.Val629=)
c.1884G>C (p.Val628=)
c.1857G>C (p.Val619=)
c.1776G>C (p.Val592=)
c.1761G>C (p.Val587=)
c.1368G>C (p.Val456=)
c.1830G>C (p.Val610=)
c.1764G>C (p.Val588=)
c.1722G>C (p.Val574=)
c.795G>C (p.Val265=)
20g.63408521C>TCA511203596KCNQ2c.1833G>A (p.Val611=)
c.1779G>A (p.Val593=)
c.105G>A
c.1176G>A (p.Val392=)
c.1686G>A (p.Val562=)
c.1347G>A (p.Val449=)
c.1695G>A (p.Val565=)
c.1803G>A (p.Val601=)
c.1767G>A (p.Val589=)
c.1725G>A (p.Val575=)
c.1679+4929G>A (n.1679+4929G>A)
c.1821G>A (p.Val607=)
c.1887G>A (p.Val629=)
c.1884G>A (p.Val628=)
c.1857G>A (p.Val619=)
c.1776G>A (p.Val592=)
c.1761G>A (p.Val587=)
c.1368G>A (p.Val456=)
c.1830G>A (p.Val610=)
c.1764G>A (p.Val588=)
c.1722G>A (p.Val574=)
c.795G>A (p.Val265=)
20g.63408522A>CCA409640446KCNQ2c.1832T>G (p.Val611Gly)
c.1778T>G (p.Val593Gly)
c.104T>G
c.1175T>G (p.Val392Gly)
c.1685T>G (p.Val562Gly)
c.1346T>G (p.Val449Gly)
c.1694T>G (p.Val565Gly)
c.1802T>G (p.Val601Gly)
c.1766T>G (p.Val589Gly)
c.1724T>G (p.Val575Gly)
c.1679+4928T>G (n.1679+4928T>G)
c.1820T>G (p.Val607Gly)
c.1886T>G (p.Val629Gly)
c.1883T>G (p.Val628Gly)
c.1856T>G (p.Val619Gly)
c.1775T>G (p.Val592Gly)
c.1760T>G (p.Val587Gly)
c.1367T>G (p.Val456Gly)
c.1829T>G (p.Val610Gly)
c.1763T>G (p.Val588Gly)
c.1721T>G (p.Val574Gly)
c.794T>G (p.Val265Gly)
20g.63408522A>GCA409640448KCNQ2c.1832T>C (p.Val611Ala)
c.1778T>C (p.Val593Ala)
c.104T>C
c.1175T>C (p.Val392Ala)
c.1685T>C (p.Val562Ala)
c.1346T>C (p.Val449Ala)
c.1694T>C (p.Val565Ala)
c.1802T>C (p.Val601Ala)
c.1766T>C (p.Val589Ala)
c.1724T>C (p.Val575Ala)
c.1679+4928T>C (n.1679+4928T>C)
c.1820T>C (p.Val607Ala)
c.1886T>C (p.Val629Ala)
c.1883T>C (p.Val628Ala)
c.1856T>C (p.Val619Ala)
c.1775T>C (p.Val592Ala)
c.1760T>C (p.Val587Ala)
c.1367T>C (p.Val456Ala)
c.1829T>C (p.Val610Ala)
c.1763T>C (p.Val588Ala)
c.1721T>C (p.Val574Ala)
c.794T>C (p.Val265Ala)
20g.63408522A>TCA409640449KCNQ2c.1832T>A (p.Val611Glu)
c.1778T>A (p.Val593Glu)
c.104T>A
c.1175T>A (p.Val392Glu)
c.1685T>A (p.Val562Glu)
c.1346T>A (p.Val449Glu)
c.1694T>A (p.Val565Glu)
c.1802T>A (p.Val601Glu)
c.1766T>A (p.Val589Glu)
c.1724T>A (p.Val575Glu)
c.1679+4928T>A (n.1679+4928T>A)
c.1820T>A (p.Val607Glu)
c.1886T>A (p.Val629Glu)
c.1883T>A (p.Val628Glu)
c.1856T>A (p.Val619Glu)
c.1775T>A (p.Val592Glu)
c.1760T>A (p.Val587Glu)
c.1367T>A (p.Val456Glu)
c.1829T>A (p.Val610Glu)
c.1763T>A (p.Val588Glu)
c.1721T>A (p.Val574Glu)
c.794T>A (p.Val265Glu)
20g.63408523C>ACA409640453KCNQ2c.1831G>T (p.Val611Leu)
c.1777G>T (p.Val593Leu)
c.103G>T
c.1174G>T (p.Val392Leu)
c.1684G>T (p.Val562Leu)
c.1345G>T (p.Val449Leu)
c.1693G>T (p.Val565Leu)
c.1801G>T (p.Val601Leu)
c.1765G>T (p.Val589Leu)
c.1723G>T (p.Val575Leu)
c.1679+4927G>T (n.1679+4927G>T)
c.1819G>T (p.Val607Leu)
c.1885G>T (p.Val629Leu)
c.1882G>T (p.Val628Leu)
c.1855G>T (p.Val619Leu)
c.1774G>T (p.Val592Leu)
c.1759G>T (p.Val587Leu)
c.1366G>T (p.Val456Leu)
c.1828G>T (p.Val610Leu)
c.1762G>T (p.Val588Leu)
c.1720G>T (p.Val574Leu)
c.793G>T (p.Val265Leu)
 gnomAD v4 COSMIC
20g.63408523C=CA2374775240KCNQ2c.1831G= (p.Val611=)
c.1777G= (p.Val593=)
c.103G=
c.1174G= (p.Val392=)
c.1684G= (p.Val562=)
c.1345G= (p.Val449=)
c.1693G= (p.Val565=)
c.1801G= (p.Val601=)
c.1765G= (p.Val589=)
c.1723G= (p.Val575=)
c.1679+4927G= (n.1679+4927G=)
c.1819G= (p.Val607=)
c.1885G= (p.Val629=)
c.1882G= (p.Val628=)
c.1855G= (p.Val619=)
c.1774G= (p.Val592=)
c.1759G= (p.Val587=)
c.1366G= (p.Val456=)
c.1828G= (p.Val610=)
c.1762G= (p.Val588=)
c.1720G= (p.Val574=)
c.793G= (p.Val265=)
20g.63408523C>GCA409640451KCNQ2c.1831G>C (p.Val611Leu)
c.1777G>C (p.Val593Leu)
c.103G>C
c.1174G>C (p.Val392Leu)
c.1684G>C (p.Val562Leu)
c.1345G>C (p.Val449Leu)
c.1693G>C (p.Val565Leu)
c.1801G>C (p.Val601Leu)
c.1765G>C (p.Val589Leu)
c.1723G>C (p.Val575Leu)
c.1679+4927G>C (n.1679+4927G>C)
c.1819G>C (p.Val607Leu)
c.1885G>C (p.Val629Leu)
c.1882G>C (p.Val628Leu)
c.1855G>C (p.Val619Leu)
c.1774G>C (p.Val592Leu)
c.1759G>C (p.Val587Leu)
c.1366G>C (p.Val456Leu)
c.1828G>C (p.Val610Leu)
c.1762G>C (p.Val588Leu)
c.1720G>C (p.Val574Leu)
c.793G>C (p.Val265Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63408523C>TCA9958244KCNQ2c.1831G>A (p.Val611Met)
c.1777G>A (p.Val593Met)
c.103G>A
c.1174G>A (p.Val392Met)
c.1684G>A (p.Val562Met)
c.1345G>A (p.Val449Met)
c.1693G>A (p.Val565Met)
c.1801G>A (p.Val601Met)
c.1765G>A (p.Val589Met)
c.1723G>A (p.Val575Met)
c.1679+4927G>A (n.1679+4927G>A)
c.1819G>A (p.Val607Met)
c.1885G>A (p.Val629Met)
c.1882G>A (p.Val628Met)
c.1855G>A (p.Val619Met)
c.1774G>A (p.Val592Met)
c.1759G>A (p.Val587Met)
c.1366G>A (p.Val456Met)
c.1828G>A (p.Val610Met)
c.1762G>A (p.Val588Met)
c.1720G>A (p.Val574Met)
c.793G>A (p.Val265Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408524G>ACA9958245KCNQ2c.1830C>T (p.Ile610=)
c.1776C>T (p.Ile592=)
c.102C>T
c.1173C>T (p.Ile391=)
c.1683C>T (p.Ile561=)
c.1344C>T (p.Ile448=)
c.1692C>T (p.Ile564=)
c.1800C>T (p.Ile600=)
c.1764C>T (p.Ile588=)
c.1722C>T (p.Ile574=)
c.1679+4926C>T (n.1679+4926C>T)
c.1818C>T (p.Ile606=)
c.1884C>T (p.Ile628=)
c.1881C>T (p.Ile627=)
c.1854C>T (p.Ile618=)
c.1773C>T (p.Ile591=)
c.1758C>T (p.Ile586=)
c.1365C>T (p.Ile455=)
c.1827C>T (p.Ile609=)
c.1761C>T (p.Ile587=)
c.1719C>T (p.Ile573=)
c.792C>T (p.Ile264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63408524G>CCA10654780KCNQ2c.1830C>G (p.Ile610Met)
c.1776C>G (p.Ile592Met)
c.102C>G
c.1173C>G (p.Ile391Met)
c.1683C>G (p.Ile561Met)
c.1344C>G (p.Ile448Met)
c.1692C>G (p.Ile564Met)
c.1800C>G (p.Ile600Met)
c.1764C>G (p.Ile588Met)
c.1722C>G (p.Ile574Met)
c.1679+4926C>G (n.1679+4926C>G)
c.1818C>G (p.Ile606Met)
c.1884C>G (p.Ile628Met)
c.1881C>G (p.Ile627Met)
c.1854C>G (p.Ile618Met)
c.1773C>G (p.Ile591Met)
c.1758C>G (p.Ile586Met)
c.1365C>G (p.Ile455Met)
c.1827C>G (p.Ile609Met)
c.1761C>G (p.Ile587Met)
c.1719C>G (p.Ile573Met)
c.792C>G (p.Ile264Met)
 ClinVar dbSNP
20g.63408524G=CA2374775241KCNQ2c.1830C= (p.Ile610=)
c.1776C= (p.Ile592=)
c.102C=
c.1173C= (p.Ile391=)
c.1683C= (p.Ile561=)
c.1344C= (p.Ile448=)
c.1692C= (p.Ile564=)
c.1800C= (p.Ile600=)
c.1764C= (p.Ile588=)
c.1722C= (p.Ile574=)
c.1679+4926C= (n.1679+4926C=)
c.1818C= (p.Ile606=)
c.1884C= (p.Ile628=)
c.1881C= (p.Ile627=)
c.1854C= (p.Ile618=)
c.1773C= (p.Ile591=)
c.1758C= (p.Ile586=)
c.1365C= (p.Ile455=)
c.1827C= (p.Ile609=)
c.1761C= (p.Ile587=)
c.1719C= (p.Ile573=)
c.792C= (p.Ile264=)
20g.63408524G>TCA511203598KCNQ2c.1830C>A (p.Ile610=)
c.1776C>A (p.Ile592=)
c.102C>A
c.1173C>A (p.Ile391=)
c.1683C>A (p.Ile561=)
c.1344C>A (p.Ile448=)
c.1692C>A (p.Ile564=)
c.1800C>A (p.Ile600=)
c.1764C>A (p.Ile588=)
c.1722C>A (p.Ile574=)
c.1679+4926C>A (n.1679+4926C>A)
c.1818C>A (p.Ile606=)
c.1884C>A (p.Ile628=)
c.1881C>A (p.Ile627=)
c.1854C>A (p.Ile618=)
c.1773C>A (p.Ile591=)
c.1758C>A (p.Ile586=)
c.1365C>A (p.Ile455=)
c.1827C>A (p.Ile609=)
c.1761C>A (p.Ile587=)
c.1719C>A (p.Ile573=)
c.792C>A (p.Ile264=)
 COSMIC COSMIC COSMIC
20g.63408525A>CCA409640459KCNQ2c.1829T>G (p.Ile610Ser)
c.1775T>G (p.Ile592Ser)
c.101T>G
c.1172T>G (p.Ile391Ser)
c.1682T>G (p.Ile561Ser)
c.1343T>G (p.Ile448Ser)
c.1691T>G (p.Ile564Ser)
c.1799T>G (p.Ile600Ser)
c.1763T>G (p.Ile588Ser)
c.1721T>G (p.Ile574Ser)
c.1679+4925T>G (n.1679+4925T>G)
c.1817T>G (p.Ile606Ser)
c.1883T>G (p.Ile628Ser)
c.1880T>G (p.Ile627Ser)
c.1853T>G (p.Ile618Ser)
c.1772T>G (p.Ile591Ser)
c.1757T>G (p.Ile586Ser)
c.1364T>G (p.Ile455Ser)
c.1826T>G (p.Ile609Ser)
c.1760T>G (p.Ile587Ser)
c.1718T>G (p.Ile573Ser)
c.791T>G (p.Ile264Ser)
20g.63408525A>GCA409640461KCNQ2c.1829T>C (p.Ile610Thr)
c.1775T>C (p.Ile592Thr)
c.101T>C
c.1172T>C (p.Ile391Thr)
c.1682T>C (p.Ile561Thr)
c.1343T>C (p.Ile448Thr)
c.1691T>C (p.Ile564Thr)
c.1799T>C (p.Ile600Thr)
c.1763T>C (p.Ile588Thr)
c.1721T>C (p.Ile574Thr)
c.1679+4925T>C (n.1679+4925T>C)
c.1817T>C (p.Ile606Thr)
c.1883T>C (p.Ile628Thr)
c.1880T>C (p.Ile627Thr)
c.1853T>C (p.Ile618Thr)
c.1772T>C (p.Ile591Thr)
c.1757T>C (p.Ile586Thr)
c.1364T>C (p.Ile455Thr)
c.1826T>C (p.Ile609Thr)
c.1760T>C (p.Ile587Thr)
c.1718T>C (p.Ile573Thr)
c.791T>C (p.Ile264Thr)
20g.63408525A>TCA409640463KCNQ2c.1829T>A (p.Ile610Asn)
c.1775T>A (p.Ile592Asn)
c.101T>A
c.1172T>A (p.Ile391Asn)
c.1682T>A (p.Ile561Asn)
c.1343T>A (p.Ile448Asn)
c.1691T>A (p.Ile564Asn)
c.1799T>A (p.Ile600Asn)
c.1763T>A (p.Ile588Asn)
c.1721T>A (p.Ile574Asn)
c.1679+4925T>A (n.1679+4925T>A)
c.1817T>A (p.Ile606Asn)
c.1883T>A (p.Ile628Asn)
c.1880T>A (p.Ile627Asn)
c.1853T>A (p.Ile618Asn)
c.1772T>A (p.Ile591Asn)
c.1757T>A (p.Ile586Asn)
c.1364T>A (p.Ile455Asn)
c.1826T>A (p.Ile609Asn)
c.1760T>A (p.Ile587Asn)
c.1718T>A (p.Ile573Asn)
c.791T>A (p.Ile264Asn)
20g.63408526T>ACA409640466KCNQ2c.1828A>T (p.Ile610Phe)
c.1774A>T (p.Ile592Phe)
c.100A>T
c.1171A>T (p.Ile391Phe)
c.1681A>T (p.Ile561Phe)
c.1342A>T (p.Ile448Phe)
c.1690A>T (p.Ile564Phe)
c.1798A>T (p.Ile600Phe)
c.1762A>T (p.Ile588Phe)
c.1720A>T (p.Ile574Phe)
c.1679+4924A>T (n.1679+4924A>T)
c.1816A>T (p.Ile606Phe)
c.1882A>T (p.Ile628Phe)
c.1879A>T (p.Ile627Phe)
c.1852A>T (p.Ile618Phe)
c.1771A>T (p.Ile591Phe)
c.1756A>T (p.Ile586Phe)
c.1363A>T (p.Ile455Phe)
c.1825A>T (p.Ile609Phe)
c.1759A>T (p.Ile587Phe)
c.1717A>T (p.Ile573Phe)
c.790A>T (p.Ile264Phe)
20g.63408526T>CCA409640468KCNQ2c.1828A>G (p.Ile610Val)
c.1774A>G (p.Ile592Val)
c.100A>G
c.1171A>G (p.Ile391Val)
c.1681A>G (p.Ile561Val)
c.1342A>G (p.Ile448Val)
c.1690A>G (p.Ile564Val)
c.1798A>G (p.Ile600Val)
c.1762A>G (p.Ile588Val)
c.1720A>G (p.Ile574Val)
c.1679+4924A>G (n.1679+4924A>G)
c.1816A>G (p.Ile606Val)
c.1882A>G (p.Ile628Val)
c.1879A>G (p.Ile627Val)
c.1852A>G (p.Ile618Val)
c.1771A>G (p.Ile591Val)
c.1756A>G (p.Ile586Val)
c.1363A>G (p.Ile455Val)
c.1825A>G (p.Ile609Val)
c.1759A>G (p.Ile587Val)
c.1717A>G (p.Ile573Val)
c.790A>G (p.Ile264Val)
20g.63408526T>GCA409640469KCNQ2c.1828A>C (p.Ile610Leu)
c.1774A>C (p.Ile592Leu)
c.100A>C
c.1171A>C (p.Ile391Leu)
c.1681A>C (p.Ile561Leu)
c.1342A>C (p.Ile448Leu)
c.1690A>C (p.Ile564Leu)
c.1798A>C (p.Ile600Leu)
c.1762A>C (p.Ile588Leu)
c.1720A>C (p.Ile574Leu)
c.1679+4924A>C (n.1679+4924A>C)
c.1816A>C (p.Ile606Leu)
c.1882A>C (p.Ile628Leu)
c.1879A>C (p.Ile627Leu)
c.1852A>C (p.Ile618Leu)
c.1771A>C (p.Ile591Leu)
c.1756A>C (p.Ile586Leu)
c.1363A>C (p.Ile455Leu)
c.1825A>C (p.Ile609Leu)
c.1759A>C (p.Ile587Leu)
c.1717A>C (p.Ile573Leu)
c.790A>C (p.Ile264Leu)
 gnomAD v4
20g.63408527C>ACA409640470KCNQ2c.1827G>T (p.Gln609His)
c.1773G>T (p.Gln591His)
c.99G>T
c.1170G>T (p.Gln390His)
c.1680G>T (p.Gln560His)
c.1341G>T (p.Gln447His)
c.1689G>T (p.Gln563His)
c.1797G>T (p.Gln599His)
c.1761G>T (p.Gln587His)
c.1719G>T (p.Gln573His)
c.1679+4923G>T (n.1679+4923G>T)
c.1815G>T (p.Gln605His)
c.1881G>T (p.Gln627His)
c.1878G>T (p.Gln626His)
c.1851G>T (p.Gln617His)
c.1770G>T (p.Gln590His)
c.1755G>T (p.Gln585His)
c.1362G>T (p.Gln454His)
c.1824G>T (p.Gln608His)
c.1758G>T (p.Gln586His)
c.1716G>T (p.Gln572His)
c.789G>T (p.Gln263His)
20g.63408527C>GCA409640471KCNQ2c.1827G>C (p.Gln609His)
c.1773G>C (p.Gln591His)
c.99G>C
c.1170G>C (p.Gln390His)
c.1680G>C (p.Gln560His)
c.1341G>C (p.Gln447His)
c.1689G>C (p.Gln563His)
c.1797G>C (p.Gln599His)
c.1761G>C (p.Gln587His)
c.1719G>C (p.Gln573His)
c.1679+4923G>C (n.1679+4923G>C)
c.1815G>C (p.Gln605His)
c.1881G>C (p.Gln627His)
c.1878G>C (p.Gln626His)
c.1851G>C (p.Gln617His)
c.1770G>C (p.Gln590His)
c.1755G>C (p.Gln585His)
c.1362G>C (p.Gln454His)
c.1824G>C (p.Gln608His)
c.1758G>C (p.Gln586His)
c.1716G>C (p.Gln572His)
c.789G>C (p.Gln263His)
20g.63408527C>TCA511203599KCNQ2c.1827G>A (p.Gln609=)
c.1773G>A (p.Gln591=)
c.99G>A
c.1170G>A (p.Gln390=)
c.1680G>A (p.Gln560=)
c.1341G>A (p.Gln447=)
c.1689G>A (p.Gln563=)
c.1797G>A (p.Gln599=)
c.1761G>A (p.Gln587=)
c.1719G>A (p.Gln573=)
c.1679+4923G>A (n.1679+4923G>A)
c.1815G>A (p.Gln605=)
c.1881G>A (p.Gln627=)
c.1878G>A (p.Gln626=)
c.1851G>A (p.Gln617=)
c.1770G>A (p.Gln590=)
c.1755G>A (p.Gln585=)
c.1362G>A (p.Gln454=)
c.1824G>A (p.Gln608=)
c.1758G>A (p.Gln586=)
c.1716G>A (p.Gln572=)
c.789G>A (p.Gln263=)
20g.63408528T>ACA409640472KCNQ2c.1826A>T (p.Gln609Leu)
c.1772A>T (p.Gln591Leu)
c.98A>T
c.1169A>T (p.Gln390Leu)
c.1679A>T (p.Gln560Leu)
c.1340A>T (p.Gln447Leu)
c.1688A>T (p.Gln563Leu)
c.1796A>T (p.Gln599Leu)
c.1760A>T (p.Gln587Leu)
c.1718A>T (p.Gln573Leu)
c.1679+4922A>T (n.1679+4922A>T)
c.1814A>T (p.Gln605Leu)
c.1880A>T (p.Gln627Leu)
c.1877A>T (p.Gln626Leu)
c.1850A>T (p.Gln617Leu)
c.1769A>T (p.Gln590Leu)
c.1754A>T (p.Gln585Leu)
c.1361A>T (p.Gln454Leu)
c.1823A>T (p.Gln608Leu)
c.1757A>T (p.Gln586Leu)
c.1715A>T (p.Gln572Leu)
c.788A>T (p.Gln263Leu)
 gnomAD v4
20g.63408528T>CCA409640473KCNQ2c.1826A>G (p.Gln609Arg)
c.1772A>G (p.Gln591Arg)
c.98A>G
c.1169A>G (p.Gln390Arg)
c.1679A>G (p.Gln560Arg)
c.1340A>G (p.Gln447Arg)
c.1688A>G (p.Gln563Arg)
c.1796A>G (p.Gln599Arg)
c.1760A>G (p.Gln587Arg)
c.1718A>G (p.Gln573Arg)
c.1679+4922A>G (n.1679+4922A>G)
c.1814A>G (p.Gln605Arg)
c.1880A>G (p.Gln627Arg)
c.1877A>G (p.Gln626Arg)
c.1850A>G (p.Gln617Arg)
c.1769A>G (p.Gln590Arg)
c.1754A>G (p.Gln585Arg)
c.1361A>G (p.Gln454Arg)
c.1823A>G (p.Gln608Arg)
c.1757A>G (p.Gln586Arg)
c.1715A>G (p.Gln572Arg)
c.788A>G (p.Gln263Arg)
20g.63408528T>GCA409640475KCNQ2c.1826A>C (p.Gln609Pro)
c.1772A>C (p.Gln591Pro)
c.98A>C
c.1169A>C (p.Gln390Pro)
c.1679A>C (p.Gln560Pro)
c.1340A>C (p.Gln447Pro)
c.1688A>C (p.Gln563Pro)
c.1796A>C (p.Gln599Pro)
c.1760A>C (p.Gln587Pro)
c.1718A>C (p.Gln573Pro)
c.1679+4922A>C (n.1679+4922A>C)
c.1814A>C (p.Gln605Pro)
c.1880A>C (p.Gln627Pro)
c.1877A>C (p.Gln626Pro)
c.1850A>C (p.Gln617Pro)
c.1769A>C (p.Gln590Pro)
c.1754A>C (p.Gln585Pro)
c.1361A>C (p.Gln454Pro)
c.1823A>C (p.Gln608Pro)
c.1757A>C (p.Gln586Pro)
c.1715A>C (p.Gln572Pro)
c.788A>C (p.Gln263Pro)
20g.63408529G>ACA409640478KCNQ2c.1825C>T (p.Gln609Ter)
c.1771C>T (p.Gln591Ter)
c.97C>T
c.1168C>T (p.Gln390Ter)
c.1678C>T (p.Gln560Ter)
c.1339C>T (p.Gln447Ter)
c.1687C>T (p.Gln563Ter)
c.1795C>T (p.Gln599Ter)
c.1759C>T (p.Gln587Ter)
c.1717C>T (p.Gln573Ter)
c.1679+4921C>T (n.1679+4921C>T)
c.1813C>T (p.Gln605Ter)
c.1879C>T (p.Gln627Ter)
c.1876C>T (p.Gln626Ter)
c.1849C>T (p.Gln617Ter)
c.1768C>T (p.Gln590Ter)
c.1753C>T (p.Gln585Ter)
c.1360C>T (p.Gln454Ter)
c.1822C>T (p.Gln608Ter)
c.1756C>T (p.Gln586Ter)
c.1714C>T (p.Gln572Ter)
c.787C>T (p.Gln263Ter)
 ClinVar
20g.63408529G>CCA409640480KCNQ2c.1825C>G (p.Gln609Glu)
c.1771C>G (p.Gln591Glu)
c.97C>G
c.1168C>G (p.Gln390Glu)
c.1678C>G (p.Gln560Glu)
c.1339C>G (p.Gln447Glu)
c.1687C>G (p.Gln563Glu)
c.1795C>G (p.Gln599Glu)
c.1759C>G (p.Gln587Glu)
c.1717C>G (p.Gln573Glu)
c.1679+4921C>G (n.1679+4921C>G)
c.1813C>G (p.Gln605Glu)
c.1879C>G (p.Gln627Glu)
c.1876C>G (p.Gln626Glu)
c.1849C>G (p.Gln617Glu)
c.1768C>G (p.Gln590Glu)
c.1753C>G (p.Gln585Glu)
c.1360C>G (p.Gln454Glu)
c.1822C>G (p.Gln608Glu)
c.1756C>G (p.Gln586Glu)
c.1714C>G (p.Gln572Glu)
c.787C>G (p.Gln263Glu)
20g.63408529G>TCA409640483KCNQ2c.1825C>A (p.Gln609Lys)
c.1771C>A (p.Gln591Lys)
c.97C>A
c.1168C>A (p.Gln390Lys)
c.1678C>A (p.Gln560Lys)
c.1339C>A (p.Gln447Lys)
c.1687C>A (p.Gln563Lys)
c.1795C>A (p.Gln599Lys)
c.1759C>A (p.Gln587Lys)
c.1717C>A (p.Gln573Lys)
c.1679+4921C>A (n.1679+4921C>A)
c.1813C>A (p.Gln605Lys)
c.1879C>A (p.Gln627Lys)
c.1876C>A (p.Gln626Lys)
c.1849C>A (p.Gln617Lys)
c.1768C>A (p.Gln590Lys)
c.1753C>A (p.Gln585Lys)
c.1360C>A (p.Gln454Lys)
c.1822C>A (p.Gln608Lys)
c.1756C>A (p.Gln586Lys)
c.1714C>A (p.Gln572Lys)
c.787C>A (p.Gln263Lys)
 gnomAD v4
20g.63408530G>ACA511203600KCNQ2c.1824C>T (p.Asp608=)
c.1770C>T (p.Asp590=)
c.96C>T
c.1167C>T (p.Asp389=)
c.1677C>T (p.Asp559=)
c.1338C>T (p.Asp446=)
c.1686C>T (p.Asp562=)
c.1794C>T (p.Asp598=)
c.1758C>T (p.Asp586=)
c.1716C>T (p.Asp572=)
c.1679+4920C>T (n.1679+4920C>T)
c.1812C>T (p.Asp604=)
c.1878C>T (p.Asp626=)
c.1875C>T (p.Asp625=)
c.1848C>T (p.Asp616=)
c.1767C>T (p.Asp589=)
c.1752C>T (p.Asp584=)
c.1359C>T (p.Asp453=)
c.1821C>T (p.Asp607=)
c.1755C>T (p.Asp585=)
c.1713C>T (p.Asp571=)
c.786C>T (p.Asp262=)
 dbSNP gnomAD v2 gnomAD v4
20g.63408530G>CCA409640486KCNQ2c.1824C>G (p.Asp608Glu)
c.1770C>G (p.Asp590Glu)
c.96C>G
c.1167C>G (p.Asp389Glu)
c.1677C>G (p.Asp559Glu)
c.1338C>G (p.Asp446Glu)
c.1686C>G (p.Asp562Glu)
c.1794C>G (p.Asp598Glu)
c.1758C>G (p.Asp586Glu)
c.1716C>G (p.Asp572Glu)
c.1679+4920C>G (n.1679+4920C>G)
c.1812C>G (p.Asp604Glu)
c.1878C>G (p.Asp626Glu)
c.1875C>G (p.Asp625Glu)
c.1848C>G (p.Asp616Glu)
c.1767C>G (p.Asp589Glu)
c.1752C>G (p.Asp584Glu)
c.1359C>G (p.Asp453Glu)
c.1821C>G (p.Asp607Glu)
c.1755C>G (p.Asp585Glu)
c.1713C>G (p.Asp571Glu)
c.786C>G (p.Asp262Glu)
20g.63408530G=CA2374775242KCNQ2c.1824C= (p.Asp608=)
c.1770C= (p.Asp590=)
c.96C=
c.1167C= (p.Asp389=)
c.1677C= (p.Asp559=)
c.1338C= (p.Asp446=)
c.1686C= (p.Asp562=)
c.1794C= (p.Asp598=)
c.1758C= (p.Asp586=)
c.1716C= (p.Asp572=)
c.1679+4920C= (n.1679+4920C=)
c.1812C= (p.Asp604=)
c.1878C= (p.Asp626=)
c.1875C= (p.Asp625=)
c.1848C= (p.Asp616=)
c.1767C= (p.Asp589=)
c.1752C= (p.Asp584=)
c.1359C= (p.Asp453=)
c.1821C= (p.Asp607=)
c.1755C= (p.Asp585=)
c.1713C= (p.Asp571=)
c.786C= (p.Asp262=)
20g.63408530G>TCA409640488KCNQ2c.1824C>A (p.Asp608Glu)
c.1770C>A (p.Asp590Glu)
c.96C>A
c.1167C>A (p.Asp389Glu)
c.1677C>A (p.Asp559Glu)
c.1338C>A (p.Asp446Glu)
c.1686C>A (p.Asp562Glu)
c.1794C>A (p.Asp598Glu)
c.1758C>A (p.Asp586Glu)
c.1716C>A (p.Asp572Glu)
c.1679+4920C>A (n.1679+4920C>A)
c.1812C>A (p.Asp604Glu)
c.1878C>A (p.Asp626Glu)
c.1875C>A (p.Asp625Glu)
c.1848C>A (p.Asp616Glu)
c.1767C>A (p.Asp589Glu)
c.1752C>A (p.Asp584Glu)
c.1359C>A (p.Asp453Glu)
c.1821C>A (p.Asp607Glu)
c.1755C>A (p.Asp585Glu)
c.1713C>A (p.Asp571Glu)
c.786C>A (p.Asp262Glu)
20g.63408531T>ACA409640491KCNQ2c.1823A>T (p.Asp608Val)
c.1769A>T (p.Asp590Val)
c.95A>T
c.1166A>T (p.Asp389Val)
c.1676A>T (p.Asp559Val)
c.1337A>T (p.Asp446Val)
c.1685A>T (p.Asp562Val)
c.1793A>T (p.Asp598Val)
c.1757A>T (p.Asp586Val)
c.1715A>T (p.Asp572Val)
c.1679+4919A>T (n.1679+4919A>T)
c.1811A>T (p.Asp604Val)
c.1877A>T (p.Asp626Val)
c.1874A>T (p.Asp625Val)
c.1847A>T (p.Asp616Val)
c.1766A>T (p.Asp589Val)
c.1751A>T (p.Asp584Val)
c.1358A>T (p.Asp453Val)
c.1820A>T (p.Asp607Val)
c.1754A>T (p.Asp585Val)
c.1712A>T (p.Asp571Val)
c.785A>T (p.Asp262Val)
20g.63408531T>CCA409640493KCNQ2c.1823A>G (p.Asp608Gly)
c.1769A>G (p.Asp590Gly)
c.95A>G
c.1166A>G (p.Asp389Gly)
c.1676A>G (p.Asp559Gly)
c.1337A>G (p.Asp446Gly)
c.1685A>G (p.Asp562Gly)
c.1793A>G (p.Asp598Gly)
c.1757A>G (p.Asp586Gly)
c.1715A>G (p.Asp572Gly)
c.1679+4919A>G (n.1679+4919A>G)
c.1811A>G (p.Asp604Gly)
c.1877A>G (p.Asp626Gly)
c.1874A>G (p.Asp625Gly)
c.1847A>G (p.Asp616Gly)
c.1766A>G (p.Asp589Gly)
c.1751A>G (p.Asp584Gly)
c.1358A>G (p.Asp453Gly)
c.1820A>G (p.Asp607Gly)
c.1754A>G (p.Asp585Gly)
c.1712A>G (p.Asp571Gly)
c.785A>G (p.Asp262Gly)
20g.63408531T>GCA409640496KCNQ2c.1823A>C (p.Asp608Ala)
c.1769A>C (p.Asp590Ala)
c.95A>C
c.1166A>C (p.Asp389Ala)
c.1676A>C (p.Asp559Ala)
c.1337A>C (p.Asp446Ala)
c.1685A>C (p.Asp562Ala)
c.1793A>C (p.Asp598Ala)
c.1757A>C (p.Asp586Ala)
c.1715A>C (p.Asp572Ala)
c.1679+4919A>C (n.1679+4919A>C)
c.1811A>C (p.Asp604Ala)
c.1877A>C (p.Asp626Ala)
c.1874A>C (p.Asp625Ala)
c.1847A>C (p.Asp616Ala)
c.1766A>C (p.Asp589Ala)
c.1751A>C (p.Asp584Ala)
c.1358A>C (p.Asp453Ala)
c.1820A>C (p.Asp607Ala)
c.1754A>C (p.Asp585Ala)
c.1712A>C (p.Asp571Ala)
c.785A>C (p.Asp262Ala)
 ClinVar dbSNP
20g.63408532C>ACA409640498KCNQ2c.1822G>T (p.Asp608Tyr)
c.1768G>T (p.Asp590Tyr)
c.94G>T
c.1165G>T (p.Asp389Tyr)
c.1675G>T (p.Asp559Tyr)
c.1336G>T (p.Asp446Tyr)
c.1684G>T (p.Asp562Tyr)
c.1792G>T (p.Asp598Tyr)
c.1756G>T (p.Asp586Tyr)
c.1714G>T (p.Asp572Tyr)
c.1679+4918G>T (n.1679+4918G>T)
c.1810G>T (p.Asp604Tyr)
c.1876G>T (p.Asp626Tyr)
c.1873G>T (p.Asp625Tyr)
c.1846G>T (p.Asp616Tyr)
c.1765G>T (p.Asp589Tyr)
c.1750G>T (p.Asp584Tyr)
c.1357G>T (p.Asp453Tyr)
c.1819G>T (p.Asp607Tyr)
c.1753G>T (p.Asp585Tyr)
c.1711G>T (p.Asp571Tyr)
c.784G>T (p.Asp262Tyr)
 gnomAD v4
20g.63408532C>GCA409640502KCNQ2c.1822G>C (p.Asp608His)
c.1768G>C (p.Asp590His)
c.94G>C
c.1165G>C (p.Asp389His)
c.1675G>C (p.Asp559His)
c.1336G>C (p.Asp446His)
c.1684G>C (p.Asp562His)
c.1792G>C (p.Asp598His)
c.1756G>C (p.Asp586His)
c.1714G>C (p.Asp572His)
c.1679+4918G>C (n.1679+4918G>C)
c.1810G>C (p.Asp604His)
c.1876G>C (p.Asp626His)
c.1873G>C (p.Asp625His)
c.1846G>C (p.Asp616His)
c.1765G>C (p.Asp589His)
c.1750G>C (p.Asp584His)
c.1357G>C (p.Asp453His)
c.1819G>C (p.Asp607His)
c.1753G>C (p.Asp585His)
c.1711G>C (p.Asp571His)
c.784G>C (p.Asp262His)
20g.63408532C>TCA409640510KCNQ2c.1822G>A (p.Asp608Asn)
c.1768G>A (p.Asp590Asn)
c.94G>A
c.1165G>A (p.Asp389Asn)
c.1675G>A (p.Asp559Asn)
c.1336G>A (p.Asp446Asn)
c.1684G>A (p.Asp562Asn)
c.1792G>A (p.Asp598Asn)
c.1756G>A (p.Asp586Asn)
c.1714G>A (p.Asp572Asn)
c.1679+4918G>A (n.1679+4918G>A)
c.1810G>A (p.Asp604Asn)
c.1876G>A (p.Asp626Asn)
c.1873G>A (p.Asp625Asn)
c.1846G>A (p.Asp616Asn)
c.1765G>A (p.Asp589Asn)
c.1750G>A (p.Asp584Asn)
c.1357G>A (p.Asp453Asn)
c.1819G>A (p.Asp607Asn)
c.1753G>A (p.Asp585Asn)
c.1711G>A (p.Asp571Asn)
c.784G>A (p.Asp262Asn)
20g.63408533C>ACA511203601KCNQ2c.1821G>T (p.Val607=)
c.1767G>T (p.Val589=)
c.93G>T
c.1164G>T (p.Val388=)
c.1674G>T (p.Val558=)
c.1335G>T (p.Val445=)
c.1683G>T (p.Val561=)
c.1791G>T (p.Val597=)
c.1755G>T (p.Val585=)
c.1713G>T (p.Val571=)
c.1679+4917G>T (n.1679+4917G>T)
c.1809G>T (p.Val603=)
c.1875G>T (p.Val625=)
c.1872G>T (p.Val624=)
c.1845G>T (p.Val615=)
c.1764G>T (p.Val588=)
c.1749G>T (p.Val583=)
c.1356G>T (p.Val452=)
c.1818G>T (p.Val606=)
c.1752G>T (p.Val584=)
c.1710G>T (p.Val570=)
c.783G>T (p.Val261=)
 gnomAD v4
20g.63408533C>GCA511203602KCNQ2c.1821G>C (p.Val607=)
c.1767G>C (p.Val589=)
c.93G>C
c.1164G>C (p.Val388=)
c.1674G>C (p.Val558=)
c.1335G>C (p.Val445=)
c.1683G>C (p.Val561=)
c.1791G>C (p.Val597=)
c.1755G>C (p.Val585=)
c.1713G>C (p.Val571=)
c.1679+4917G>C (n.1679+4917G>C)
c.1809G>C (p.Val603=)
c.1875G>C (p.Val625=)
c.1872G>C (p.Val624=)
c.1845G>C (p.Val615=)
c.1764G>C (p.Val588=)
c.1749G>C (p.Val583=)
c.1356G>C (p.Val452=)
c.1818G>C (p.Val606=)
c.1752G>C (p.Val584=)
c.1710G>C (p.Val570=)
c.783G>C (p.Val261=)
20g.63408533C>TCA511203603KCNQ2c.1821G>A (p.Val607=)
c.1767G>A (p.Val589=)
c.93G>A
c.1164G>A (p.Val388=)
c.1674G>A (p.Val558=)
c.1335G>A (p.Val445=)
c.1683G>A (p.Val561=)
c.1791G>A (p.Val597=)
c.1755G>A (p.Val585=)
c.1713G>A (p.Val571=)
c.1679+4917G>A (n.1679+4917G>A)
c.1809G>A (p.Val603=)
c.1875G>A (p.Val625=)
c.1872G>A (p.Val624=)
c.1845G>A (p.Val615=)
c.1764G>A (p.Val588=)
c.1749G>A (p.Val583=)
c.1356G>A (p.Val452=)
c.1818G>A (p.Val606=)
c.1752G>A (p.Val584=)
c.1710G>A (p.Val570=)
c.783G>A (p.Val261=)
20g.63408534A>CCA409640512KCNQ2c.1820T>G (p.Val607Gly)
c.1766T>G (p.Val589Gly)
c.92T>G
c.1163T>G (p.Val388Gly)
c.1673T>G (p.Val558Gly)
c.1334T>G (p.Val445Gly)
c.1682T>G (p.Val561Gly)
c.1790T>G (p.Val597Gly)
c.1754T>G (p.Val585Gly)
c.1712T>G (p.Val571Gly)
c.1679+4916T>G (n.1679+4916T>G)
c.1808T>G (p.Val603Gly)
c.1874T>G (p.Val625Gly)
c.1871T>G (p.Val624Gly)
c.1844T>G (p.Val615Gly)
c.1763T>G (p.Val588Gly)
c.1748T>G (p.Val583Gly)
c.1355T>G (p.Val452Gly)
c.1817T>G (p.Val606Gly)
c.1751T>G (p.Val584Gly)
c.1709T>G (p.Val570Gly)
c.782T>G (p.Val261Gly)
20g.63408534A>GCA409640516KCNQ2c.1820T>C (p.Val607Ala)
c.1766T>C (p.Val589Ala)
c.92T>C
c.1163T>C (p.Val388Ala)
c.1673T>C (p.Val558Ala)
c.1334T>C (p.Val445Ala)
c.1682T>C (p.Val561Ala)
c.1790T>C (p.Val597Ala)
c.1754T>C (p.Val585Ala)
c.1712T>C (p.Val571Ala)
c.1679+4916T>C (n.1679+4916T>C)
c.1808T>C (p.Val603Ala)
c.1874T>C (p.Val625Ala)
c.1871T>C (p.Val624Ala)
c.1844T>C (p.Val615Ala)
c.1763T>C (p.Val588Ala)
c.1748T>C (p.Val583Ala)
c.1355T>C (p.Val452Ala)
c.1817T>C (p.Val606Ala)
c.1751T>C (p.Val584Ala)
c.1709T>C (p.Val570Ala)
c.782T>C (p.Val261Ala)
20g.63408534A>TCA409640519KCNQ2c.1820T>A (p.Val607Glu)
c.1766T>A (p.Val589Glu)
c.92T>A
c.1163T>A (p.Val388Glu)
c.1673T>A (p.Val558Glu)
c.1334T>A (p.Val445Glu)
c.1682T>A (p.Val561Glu)
c.1790T>A (p.Val597Glu)
c.1754T>A (p.Val585Glu)
c.1712T>A (p.Val571Glu)
c.1679+4916T>A (n.1679+4916T>A)
c.1808T>A (p.Val603Glu)
c.1874T>A (p.Val625Glu)
c.1871T>A (p.Val624Glu)
c.1844T>A (p.Val615Glu)
c.1763T>A (p.Val588Glu)
c.1748T>A (p.Val583Glu)
c.1355T>A (p.Val452Glu)
c.1817T>A (p.Val606Glu)
c.1751T>A (p.Val584Glu)
c.1709T>A (p.Val570Glu)
c.782T>A (p.Val261Glu)
20g.63408535C>ACA409640521KCNQ2c.1819G>T (p.Val607Leu)
c.1765G>T (p.Val589Leu)
c.91G>T
c.1162G>T (p.Val388Leu)
c.1672G>T (p.Val558Leu)
c.1333G>T (p.Val445Leu)
c.1681G>T (p.Val561Leu)
c.1789G>T (p.Val597Leu)
c.1753G>T (p.Val585Leu)
c.1711G>T (p.Val571Leu)
c.1679+4915G>T (n.1679+4915G>T)
c.1807G>T (p.Val603Leu)
c.1873G>T (p.Val625Leu)
c.1870G>T (p.Val624Leu)
c.1843G>T (p.Val615Leu)
c.1762G>T (p.Val588Leu)
c.1747G>T (p.Val583Leu)
c.1354G>T (p.Val452Leu)
c.1816G>T (p.Val606Leu)
c.1750G>T (p.Val584Leu)
c.1708G>T (p.Val570Leu)
c.781G>T (p.Val261Leu)
20g.63408535C>GCA409640525KCNQ2c.1819G>C (p.Val607Leu)
c.1765G>C (p.Val589Leu)
c.91G>C
c.1162G>C (p.Val388Leu)
c.1672G>C (p.Val558Leu)
c.1333G>C (p.Val445Leu)
c.1681G>C (p.Val561Leu)
c.1789G>C (p.Val597Leu)
c.1753G>C (p.Val585Leu)
c.1711G>C (p.Val571Leu)
c.1679+4915G>C (n.1679+4915G>C)
c.1807G>C (p.Val603Leu)
c.1873G>C (p.Val625Leu)
c.1870G>C (p.Val624Leu)
c.1843G>C (p.Val615Leu)
c.1762G>C (p.Val588Leu)
c.1747G>C (p.Val583Leu)
c.1354G>C (p.Val452Leu)
c.1816G>C (p.Val606Leu)
c.1750G>C (p.Val584Leu)
c.1708G>C (p.Val570Leu)
c.781G>C (p.Val261Leu)
20g.63408535C>TCA409640530KCNQ2c.1819G>A (p.Val607Met)
c.1765G>A (p.Val589Met)
c.91G>A
c.1162G>A (p.Val388Met)
c.1672G>A (p.Val558Met)
c.1333G>A (p.Val445Met)
c.1681G>A (p.Val561Met)
c.1789G>A (p.Val597Met)
c.1753G>A (p.Val585Met)
c.1711G>A (p.Val571Met)
c.1679+4915G>A (n.1679+4915G>A)
c.1807G>A (p.Val603Met)
c.1873G>A (p.Val625Met)
c.1870G>A (p.Val624Met)
c.1843G>A (p.Val615Met)
c.1762G>A (p.Val588Met)
c.1747G>A (p.Val583Met)
c.1354G>A (p.Val452Met)
c.1816G>A (p.Val606Met)
c.1750G>A (p.Val584Met)
c.1708G>A (p.Val570Met)
c.781G>A (p.Val261Met)
20g.63408536T>ACA342475KCNQ2c.1818A>T (p.Arg606Ser)
c.1764A>T (p.Arg588Ser)
c.90A>T
c.1161A>T (p.Arg387Ser)
c.1671A>T (p.Arg557Ser)
c.1332A>T (p.Arg444Ser)
c.1680A>T (p.Arg560Ser)
c.1788A>T (p.Arg596Ser)
c.1752A>T (p.Arg584Ser)
c.1710A>T (p.Arg570Ser)
c.1679+4914A>T (n.1679+4914A>T)
c.1806A>T (p.Gly602=)
c.1872A>T (p.Arg624Ser)
c.1869A>T (p.Arg623Ser)
c.1842A>T (p.Arg614Ser)
c.1761A>T (p.Arg587Ser)
c.1746A>T (p.Arg582Ser)
c.1353A>T (p.Arg451Ser)
c.1815A>T (p.Arg605Ser)
c.1752A>T (p.Gly584=)
c.1749A>T (p.Arg583Ser)
c.1707A>T (p.Arg569Ser)
c.780A>T (p.Arg260Ser)
 ClinVar dbSNP
20g.63408536T>CCA511203604KCNQ2c.1818A>G (p.Arg606=)
c.1764A>G (p.Arg588=)
c.90A>G
c.1161A>G (p.Arg387=)
c.1671A>G (p.Arg557=)
c.1332A>G (p.Arg444=)
c.1680A>G (p.Arg560=)
c.1788A>G (p.Arg596=)
c.1752A>G (p.Arg584=)
c.1710A>G (p.Arg570=)
c.1679+4914A>G (n.1679+4914A>G)
c.1806A>G (p.Gly602=)
c.1872A>G (p.Arg624=)
c.1869A>G (p.Arg623=)
c.1842A>G (p.Arg614=)
c.1761A>G (p.Arg587=)
c.1746A>G (p.Arg582=)
c.1353A>G (p.Arg451=)
c.1815A>G (p.Arg605=)
c.1752A>G (p.Gly584=)
c.1749A>G (p.Arg583=)
c.1707A>G (p.Arg569=)
c.780A>G (p.Arg260=)
20g.63408536T>GCA409640538KCNQ2c.1818A>C (p.Arg606Ser)
c.1764A>C (p.Arg588Ser)
c.90A>C
c.1161A>C (p.Arg387Ser)
c.1671A>C (p.Arg557Ser)
c.1332A>C (p.Arg444Ser)
c.1680A>C (p.Arg560Ser)
c.1788A>C (p.Arg596Ser)
c.1752A>C (p.Arg584Ser)
c.1710A>C (p.Arg570Ser)
c.1679+4914A>C (n.1679+4914A>C)
c.1806A>C (p.Gly602=)
c.1872A>C (p.Arg624Ser)
c.1869A>C (p.Arg623Ser)
c.1842A>C (p.Arg614Ser)
c.1761A>C (p.Arg587Ser)
c.1746A>C (p.Arg582Ser)
c.1353A>C (p.Arg451Ser)
c.1815A>C (p.Arg605Ser)
c.1752A>C (p.Gly584=)
c.1749A>C (p.Arg583Ser)
c.1707A>C (p.Arg569Ser)
c.780A>C (p.Arg260Ser)
20g.63408536T=CA2374775243KCNQ2c.1818A= (p.Arg606=)
c.1764A= (p.Arg588=)
c.90A=
c.1161A= (p.Arg387=)
c.1671A= (p.Arg557=)
c.1332A= (p.Arg444=)
c.1680A= (p.Arg560=)
c.1788A= (p.Arg596=)
c.1752A= (p.Arg584=)
c.1710A= (p.Arg570=)
c.1679+4914A= (n.1679+4914A=)
c.1806A= (p.Gly602=)
c.1872A= (p.Arg624=)
c.1869A= (p.Arg623=)
c.1842A= (p.Arg614=)
c.1761A= (p.Arg587=)
c.1746A= (p.Arg582=)
c.1353A= (p.Arg451=)
c.1815A= (p.Arg605=)
c.1752A= (p.Gly584=)
c.1749A= (p.Arg583=)
c.1707A= (p.Arg569=)
c.780A= (p.Arg260=)

Number of alleles fetched