Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63406889_63407267delCA2739277253KCNQ2c.2053_2431del (p.Ala685TrpfsTer?)
c.1999_2377del (p.Ala667TrpfsTer?)
c.1396_1774del (p.Ala466TrpfsTer?)
c.1906_2284del (p.Ala636TrpfsTer?)
c.1567_1945del (p.Ala523TrpfsTer?)
c.1915_2293del (p.Ala639TrpfsTer?)
c.2023_2241+160del
c.1987_2205+160del
c.1945_2323del (p.Ala649TrpfsTer?)
c.1915_2133+160del
c.1679+6186_1680-6043del (n.1679+6186_1680-6043del)
c.2041_2419del (p.Ala681TrpfsTer?)
c.2107_2485del (p.Ala703TrpfsTer?)
c.2104_2482del (p.Ala702TrpfsTer?)
c.2077_2455del (p.Ala693TrpfsTer?)
c.2023_2401del (p.Ala675TrpfsTer?)
c.1996_2374del (p.Ala666TrpfsTer?)
c.1981_2359del (p.Ala661TrpfsTer?)
c.1588_1966del (p.Ala530TrpfsTer?)
c.2050_2428del (p.Ala684TrpfsTer?)
c.1987_2365del (p.Ala663TrpfsTer?)
c.1984_2362del (p.Ala662TrpfsTer?)
c.1942_2320del (p.Ala648TrpfsTer?)
c.1015_1393del (p.Ala339TrpfsTer?)
 ClinVar
20g.63407185C>ACA409639040KCNQ2c.2132G>T (p.Ser711Ile)
c.2078G>T (p.Ser693Ile)
c.1475G>T (p.Ser492Ile)
c.1985G>T (p.Ser662Ile)
c.1646G>T (p.Ser549Ile)
c.1994G>T (p.Ser665Ile)
c.2102G>T (p.Ser701Ile)
c.2066G>T (p.Ser689Ile)
c.2024G>T (p.Ser675Ile)
c.1679+6265G>T (n.1679+6265G>T)
c.2120G>T (p.Ser707Ile)
c.2186G>T (p.Ser729Ile)
c.2183G>T (p.Ser728Ile)
c.2156G>T (p.Ser719Ile)
c.2075G>T (p.Ser692Ile)
c.2060G>T (p.Ser687Ile)
c.1667G>T (p.Ser556Ile)
c.2129G>T (p.Ser710Ile)
c.2063G>T (p.Ser688Ile)
c.2021G>T (p.Ser674Ile)
c.1094G>T (p.Ser365Ile)
 gnomAD v4
20g.63407185C=CA2374774474KCNQ2c.2132G= (p.Ser711=)
c.2078G= (p.Ser693=)
c.1475G= (p.Ser492=)
c.1985G= (p.Ser662=)
c.1646G= (p.Ser549=)
c.1994G= (p.Ser665=)
c.2102G= (p.Ser701=)
c.2066G= (p.Ser689=)
c.2024G= (p.Ser675=)
c.1679+6265G= (n.1679+6265G=)
c.2120G= (p.Ser707=)
c.2186G= (p.Ser729=)
c.2183G= (p.Ser728=)
c.2156G= (p.Ser719=)
c.2075G= (p.Ser692=)
c.2060G= (p.Ser687=)
c.1667G= (p.Ser556=)
c.2129G= (p.Ser710=)
c.2063G= (p.Ser688=)
c.2021G= (p.Ser674=)
c.1094G= (p.Ser365=)
20g.63407185C>GCA409639042KCNQ2c.2132G>C (p.Ser711Thr)
c.2078G>C (p.Ser693Thr)
c.1475G>C (p.Ser492Thr)
c.1985G>C (p.Ser662Thr)
c.1646G>C (p.Ser549Thr)
c.1994G>C (p.Ser665Thr)
c.2102G>C (p.Ser701Thr)
c.2066G>C (p.Ser689Thr)
c.2024G>C (p.Ser675Thr)
c.1679+6265G>C (n.1679+6265G>C)
c.2120G>C (p.Ser707Thr)
c.2186G>C (p.Ser729Thr)
c.2183G>C (p.Ser728Thr)
c.2156G>C (p.Ser719Thr)
c.2075G>C (p.Ser692Thr)
c.2060G>C (p.Ser687Thr)
c.1667G>C (p.Ser556Thr)
c.2129G>C (p.Ser710Thr)
c.2063G>C (p.Ser688Thr)
c.2021G>C (p.Ser674Thr)
c.1094G>C (p.Ser365Thr)
20g.63407185C>TCA409639041KCNQ2c.2132G>A (p.Ser711Asn)
c.2078G>A (p.Ser693Asn)
c.1475G>A (p.Ser492Asn)
c.1985G>A (p.Ser662Asn)
c.1646G>A (p.Ser549Asn)
c.1994G>A (p.Ser665Asn)
c.2102G>A (p.Ser701Asn)
c.2066G>A (p.Ser689Asn)
c.2024G>A (p.Ser675Asn)
c.1679+6265G>A (n.1679+6265G>A)
c.2120G>A (p.Ser707Asn)
c.2186G>A (p.Ser729Asn)
c.2183G>A (p.Ser728Asn)
c.2156G>A (p.Ser719Asn)
c.2075G>A (p.Ser692Asn)
c.2060G>A (p.Ser687Asn)
c.1667G>A (p.Ser556Asn)
c.2129G>A (p.Ser710Asn)
c.2063G>A (p.Ser688Asn)
c.2021G>A (p.Ser674Asn)
c.1094G>A (p.Ser365Asn)
 dbSNP gnomAD v2 gnomAD v4
20g.63407186delCA2697547450KCNQ2c.2131del (p.Ser711AlafsTer?)
c.2077del (p.Ser693AlafsTer?)
c.1474del (p.Ser492AlafsTer?)
c.1984del (p.Ser662AlafsTer?)
c.1645del (p.Ser549AlafsTer?)
c.1993del (p.Ser665AlafsTer?)
c.2101del (p.Ser701AlafsTer?)
c.2065del (p.Ser689AlafsTer?)
c.2023del (p.Ser675AlafsTer?)
c.1679+6264del (n.1679+6264del)
c.2119del (p.Ser707AlafsTer?)
c.2185del (p.Ser729AlafsTer?)
c.2182del (p.Ser728AlafsTer?)
c.2155del (p.Ser719AlafsTer?)
c.2074del (p.Ser692AlafsTer?)
c.2059del (p.Ser687AlafsTer?)
c.1666del (p.Ser556AlafsTer?)
c.2128del (p.Ser710AlafsTer?)
c.2062del (p.Ser688AlafsTer?)
c.2020del (p.Ser674AlafsTer?)
c.1093del (p.Ser365AlafsTer?)
 ClinVar
20g.63407186T>ACA409639043KCNQ2c.2131A>T (p.Ser711Cys)
c.2077A>T (p.Ser693Cys)
c.1474A>T (p.Ser492Cys)
c.1984A>T (p.Ser662Cys)
c.1645A>T (p.Ser549Cys)
c.1993A>T (p.Ser665Cys)
c.2101A>T (p.Ser701Cys)
c.2065A>T (p.Ser689Cys)
c.2023A>T (p.Ser675Cys)
c.1679+6264A>T (n.1679+6264A>T)
c.2119A>T (p.Ser707Cys)
c.2185A>T (p.Ser729Cys)
c.2182A>T (p.Ser728Cys)
c.2155A>T (p.Ser719Cys)
c.2074A>T (p.Ser692Cys)
c.2059A>T (p.Ser687Cys)
c.1666A>T (p.Ser556Cys)
c.2128A>T (p.Ser710Cys)
c.2062A>T (p.Ser688Cys)
c.2020A>T (p.Ser674Cys)
c.1093A>T (p.Ser365Cys)
20g.63407186T>CCA409639045KCNQ2c.2131A>G (p.Ser711Gly)
c.2077A>G (p.Ser693Gly)
c.1474A>G (p.Ser492Gly)
c.1984A>G (p.Ser662Gly)
c.1645A>G (p.Ser549Gly)
c.1993A>G (p.Ser665Gly)
c.2101A>G (p.Ser701Gly)
c.2065A>G (p.Ser689Gly)
c.2023A>G (p.Ser675Gly)
c.1679+6264A>G (n.1679+6264A>G)
c.2119A>G (p.Ser707Gly)
c.2185A>G (p.Ser729Gly)
c.2182A>G (p.Ser728Gly)
c.2155A>G (p.Ser719Gly)
c.2074A>G (p.Ser692Gly)
c.2059A>G (p.Ser687Gly)
c.1666A>G (p.Ser556Gly)
c.2128A>G (p.Ser710Gly)
c.2062A>G (p.Ser688Gly)
c.2020A>G (p.Ser674Gly)
c.1093A>G (p.Ser365Gly)
 dbSNP gnomAD v2
20g.63407186T>GCA409639044KCNQ2c.2131A>C (p.Ser711Arg)
c.2077A>C (p.Ser693Arg)
c.1474A>C (p.Ser492Arg)
c.1984A>C (p.Ser662Arg)
c.1645A>C (p.Ser549Arg)
c.1993A>C (p.Ser665Arg)
c.2101A>C (p.Ser701Arg)
c.2065A>C (p.Ser689Arg)
c.2023A>C (p.Ser675Arg)
c.1679+6264A>C (n.1679+6264A>C)
c.2119A>C (p.Ser707Arg)
c.2185A>C (p.Ser729Arg)
c.2182A>C (p.Ser728Arg)
c.2155A>C (p.Ser719Arg)
c.2074A>C (p.Ser692Arg)
c.2059A>C (p.Ser687Arg)
c.1666A>C (p.Ser556Arg)
c.2128A>C (p.Ser710Arg)
c.2062A>C (p.Ser688Arg)
c.2020A>C (p.Ser674Arg)
c.1093A>C (p.Ser365Arg)
20g.63407186T=CA2374774475KCNQ2c.2131A= (p.Ser711=)
c.2077A= (p.Ser693=)
c.1474A= (p.Ser492=)
c.1984A= (p.Ser662=)
c.1645A= (p.Ser549=)
c.1993A= (p.Ser665=)
c.2101A= (p.Ser701=)
c.2065A= (p.Ser689=)
c.2023A= (p.Ser675=)
c.1679+6264A= (n.1679+6264A=)
c.2119A= (p.Ser707=)
c.2185A= (p.Ser729=)
c.2182A= (p.Ser728=)
c.2155A= (p.Ser719=)
c.2074A= (p.Ser692=)
c.2059A= (p.Ser687=)
c.1666A= (p.Ser556=)
c.2128A= (p.Ser710=)
c.2062A= (p.Ser688=)
c.2020A= (p.Ser674=)
c.1093A= (p.Ser365=)
20g.63407187G>ACA511339370KCNQ2c.2130C>T (p.Ser710=)
c.2076C>T (p.Ser692=)
c.1473C>T (p.Ser491=)
c.1983C>T (p.Ser661=)
c.1644C>T (p.Ser548=)
c.1992C>T (p.Ser664=)
c.2100C>T (p.Ser700=)
c.2064C>T (p.Ser688=)
c.2022C>T (p.Ser674=)
c.1679+6263C>T (n.1679+6263C>T)
c.2118C>T (p.Ser706=)
c.2184C>T (p.Ser728=)
c.2181C>T (p.Ser727=)
c.2154C>T (p.Ser718=)
c.2073C>T (p.Ser691=)
c.2058C>T (p.Ser686=)
c.1665C>T (p.Ser555=)
c.2127C>T (p.Ser709=)
c.2061C>T (p.Ser687=)
c.2019C>T (p.Ser673=)
c.1092C>T (p.Ser364=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63407187G>CCA511339371KCNQ2c.2130C>G (p.Ser710=)
c.2076C>G (p.Ser692=)
c.1473C>G (p.Ser491=)
c.1983C>G (p.Ser661=)
c.1644C>G (p.Ser548=)
c.1992C>G (p.Ser664=)
c.2100C>G (p.Ser700=)
c.2064C>G (p.Ser688=)
c.2022C>G (p.Ser674=)
c.1679+6263C>G (n.1679+6263C>G)
c.2118C>G (p.Ser706=)
c.2184C>G (p.Ser728=)
c.2181C>G (p.Ser727=)
c.2154C>G (p.Ser718=)
c.2073C>G (p.Ser691=)
c.2058C>G (p.Ser686=)
c.1665C>G (p.Ser555=)
c.2127C>G (p.Ser709=)
c.2061C>G (p.Ser687=)
c.2019C>G (p.Ser673=)
c.1092C>G (p.Ser364=)
20g.63407187G=CA2374774476KCNQ2c.2130C= (p.Ser710=)
c.2076C= (p.Ser692=)
c.1473C= (p.Ser491=)
c.1983C= (p.Ser661=)
c.1644C= (p.Ser548=)
c.1992C= (p.Ser664=)
c.2100C= (p.Ser700=)
c.2064C= (p.Ser688=)
c.2022C= (p.Ser674=)
c.1679+6263C= (n.1679+6263C=)
c.2118C= (p.Ser706=)
c.2184C= (p.Ser728=)
c.2181C= (p.Ser727=)
c.2154C= (p.Ser718=)
c.2073C= (p.Ser691=)
c.2058C= (p.Ser686=)
c.1665C= (p.Ser555=)
c.2127C= (p.Ser709=)
c.2061C= (p.Ser687=)
c.2019C= (p.Ser673=)
c.1092C= (p.Ser364=)
20g.63407187G>TCA511339375KCNQ2c.2130C>A (p.Ser710=)
c.2076C>A (p.Ser692=)
c.1473C>A (p.Ser491=)
c.1983C>A (p.Ser661=)
c.1644C>A (p.Ser548=)
c.1992C>A (p.Ser664=)
c.2100C>A (p.Ser700=)
c.2064C>A (p.Ser688=)
c.2022C>A (p.Ser674=)
c.1679+6263C>A (n.1679+6263C>A)
c.2118C>A (p.Ser706=)
c.2184C>A (p.Ser728=)
c.2181C>A (p.Ser727=)
c.2154C>A (p.Ser718=)
c.2073C>A (p.Ser691=)
c.2058C>A (p.Ser686=)
c.1665C>A (p.Ser555=)
c.2127C>A (p.Ser709=)
c.2061C>A (p.Ser687=)
c.2019C>A (p.Ser673=)
c.1092C>A (p.Ser364=)
 gnomAD v4
20g.63407188G>ACA409639046KCNQ2c.2129C>T (p.Ser710Phe)
c.2075C>T (p.Ser692Phe)
c.1472C>T (p.Ser491Phe)
c.1982C>T (p.Ser661Phe)
c.1643C>T (p.Ser548Phe)
c.1991C>T (p.Ser664Phe)
c.2099C>T (p.Ser700Phe)
c.2063C>T (p.Ser688Phe)
c.2021C>T (p.Ser674Phe)
c.1679+6262C>T (n.1679+6262C>T)
c.2117C>T (p.Ser706Phe)
c.2183C>T (p.Ser728Phe)
c.2180C>T (p.Ser727Phe)
c.2153C>T (p.Ser718Phe)
c.2072C>T (p.Ser691Phe)
c.2057C>T (p.Ser686Phe)
c.1664C>T (p.Ser555Phe)
c.2126C>T (p.Ser709Phe)
c.2060C>T (p.Ser687Phe)
c.2018C>T (p.Ser673Phe)
c.1091C>T (p.Ser364Phe)
 gnomAD v4
20g.63407188G>CCA409639047KCNQ2c.2129C>G (p.Ser710Cys)
c.2075C>G (p.Ser692Cys)
c.1472C>G (p.Ser491Cys)
c.1982C>G (p.Ser661Cys)
c.1643C>G (p.Ser548Cys)
c.1991C>G (p.Ser664Cys)
c.2099C>G (p.Ser700Cys)
c.2063C>G (p.Ser688Cys)
c.2021C>G (p.Ser674Cys)
c.1679+6262C>G (n.1679+6262C>G)
c.2117C>G (p.Ser706Cys)
c.2183C>G (p.Ser728Cys)
c.2180C>G (p.Ser727Cys)
c.2153C>G (p.Ser718Cys)
c.2072C>G (p.Ser691Cys)
c.2057C>G (p.Ser686Cys)
c.1664C>G (p.Ser555Cys)
c.2126C>G (p.Ser709Cys)
c.2060C>G (p.Ser687Cys)
c.2018C>G (p.Ser673Cys)
c.1091C>G (p.Ser364Cys)
20g.63407188G>TCA409639048KCNQ2c.2129C>A (p.Ser710Tyr)
c.2075C>A (p.Ser692Tyr)
c.1472C>A (p.Ser491Tyr)
c.1982C>A (p.Ser661Tyr)
c.1643C>A (p.Ser548Tyr)
c.1991C>A (p.Ser664Tyr)
c.2099C>A (p.Ser700Tyr)
c.2063C>A (p.Ser688Tyr)
c.2021C>A (p.Ser674Tyr)
c.1679+6262C>A (n.1679+6262C>A)
c.2117C>A (p.Ser706Tyr)
c.2183C>A (p.Ser728Tyr)
c.2180C>A (p.Ser727Tyr)
c.2153C>A (p.Ser718Tyr)
c.2072C>A (p.Ser691Tyr)
c.2057C>A (p.Ser686Tyr)
c.1664C>A (p.Ser555Tyr)
c.2126C>A (p.Ser709Tyr)
c.2060C>A (p.Ser687Tyr)
c.2018C>A (p.Ser673Tyr)
c.1091C>A (p.Ser364Tyr)
 gnomAD v4
20g.63407189A>CCA409639049KCNQ2c.2128T>G (p.Ser710Ala)
c.2074T>G (p.Ser692Ala)
c.1471T>G (p.Ser491Ala)
c.1981T>G (p.Ser661Ala)
c.1642T>G (p.Ser548Ala)
c.1990T>G (p.Ser664Ala)
c.2098T>G (p.Ser700Ala)
c.2062T>G (p.Ser688Ala)
c.2020T>G (p.Ser674Ala)
c.1679+6261T>G (n.1679+6261T>G)
c.2116T>G (p.Ser706Ala)
c.2182T>G (p.Ser728Ala)
c.2179T>G (p.Ser727Ala)
c.2152T>G (p.Ser718Ala)
c.2071T>G (p.Ser691Ala)
c.2056T>G (p.Ser686Ala)
c.1663T>G (p.Ser555Ala)
c.2125T>G (p.Ser709Ala)
c.2059T>G (p.Ser687Ala)
c.2017T>G (p.Ser673Ala)
c.1090T>G (p.Ser364Ala)
20g.63407189A>GCA409639050KCNQ2c.2128T>C (p.Ser710Pro)
c.2074T>C (p.Ser692Pro)
c.1471T>C (p.Ser491Pro)
c.1981T>C (p.Ser661Pro)
c.1642T>C (p.Ser548Pro)
c.1990T>C (p.Ser664Pro)
c.2098T>C (p.Ser700Pro)
c.2062T>C (p.Ser688Pro)
c.2020T>C (p.Ser674Pro)
c.1679+6261T>C (n.1679+6261T>C)
c.2116T>C (p.Ser706Pro)
c.2182T>C (p.Ser728Pro)
c.2179T>C (p.Ser727Pro)
c.2152T>C (p.Ser718Pro)
c.2071T>C (p.Ser691Pro)
c.2056T>C (p.Ser686Pro)
c.1663T>C (p.Ser555Pro)
c.2125T>C (p.Ser709Pro)
c.2059T>C (p.Ser687Pro)
c.2017T>C (p.Ser673Pro)
c.1090T>C (p.Ser364Pro)
20g.63407189A>TCA409639051KCNQ2c.2128T>A (p.Ser710Thr)
c.2074T>A (p.Ser692Thr)
c.1471T>A (p.Ser491Thr)
c.1981T>A (p.Ser661Thr)
c.1642T>A (p.Ser548Thr)
c.1990T>A (p.Ser664Thr)
c.2098T>A (p.Ser700Thr)
c.2062T>A (p.Ser688Thr)
c.2020T>A (p.Ser674Thr)
c.1679+6261T>A (n.1679+6261T>A)
c.2116T>A (p.Ser706Thr)
c.2182T>A (p.Ser728Thr)
c.2179T>A (p.Ser727Thr)
c.2152T>A (p.Ser718Thr)
c.2071T>A (p.Ser691Thr)
c.2056T>A (p.Ser686Thr)
c.1663T>A (p.Ser555Thr)
c.2125T>A (p.Ser709Thr)
c.2059T>A (p.Ser687Thr)
c.2017T>A (p.Ser673Thr)
c.1090T>A (p.Ser364Thr)
 gnomAD v4
20g.63407190G>ACA511339380KCNQ2c.2127C>T (p.Arg709=)
c.2073C>T (p.Arg691=)
c.1470C>T (p.Arg490=)
c.1980C>T (p.Arg660=)
c.1641C>T (p.Arg547=)
c.1989C>T (p.Arg663=)
c.2097C>T (p.Arg699=)
c.2061C>T (p.Arg687=)
c.2019C>T (p.Arg673=)
c.1679+6260C>T (n.1679+6260C>T)
c.2115C>T (p.Arg705=)
c.2181C>T (p.Arg727=)
c.2178C>T (p.Arg726=)
c.2151C>T (p.Arg717=)
c.2070C>T (p.Arg690=)
c.2055C>T (p.Arg685=)
c.1662C>T (p.Arg554=)
c.2124C>T (p.Arg708=)
c.2058C>T (p.Arg686=)
c.2016C>T (p.Arg672=)
c.1089C>T (p.Arg363=)
 dbSNP gnomAD v3 gnomAD v4
20g.63407190G>CCA511339382KCNQ2c.2127C>G (p.Arg709=)
c.2073C>G (p.Arg691=)
c.1470C>G (p.Arg490=)
c.1980C>G (p.Arg660=)
c.1641C>G (p.Arg547=)
c.1989C>G (p.Arg663=)
c.2097C>G (p.Arg699=)
c.2061C>G (p.Arg687=)
c.2019C>G (p.Arg673=)
c.1679+6260C>G (n.1679+6260C>G)
c.2115C>G (p.Arg705=)
c.2181C>G (p.Arg727=)
c.2178C>G (p.Arg726=)
c.2151C>G (p.Arg717=)
c.2070C>G (p.Arg690=)
c.2055C>G (p.Arg685=)
c.1662C>G (p.Arg554=)
c.2124C>G (p.Arg708=)
c.2058C>G (p.Arg686=)
c.2016C>G (p.Arg672=)
c.1089C>G (p.Arg363=)
20g.63407190G=CA2374774477KCNQ2c.2127C= (p.Arg709=)
c.2073C= (p.Arg691=)
c.1470C= (p.Arg490=)
c.1980C= (p.Arg660=)
c.1641C= (p.Arg547=)
c.1989C= (p.Arg663=)
c.2097C= (p.Arg699=)
c.2061C= (p.Arg687=)
c.2019C= (p.Arg673=)
c.1679+6260C= (n.1679+6260C=)
c.2115C= (p.Arg705=)
c.2181C= (p.Arg727=)
c.2178C= (p.Arg726=)
c.2151C= (p.Arg717=)
c.2070C= (p.Arg690=)
c.2055C= (p.Arg685=)
c.1662C= (p.Arg554=)
c.2124C= (p.Arg708=)
c.2058C= (p.Arg686=)
c.2016C= (p.Arg672=)
c.1089C= (p.Arg363=)
20g.63407190G>TCA511339381KCNQ2c.2127C>A (p.Arg709=)
c.2073C>A (p.Arg691=)
c.1470C>A (p.Arg490=)
c.1980C>A (p.Arg660=)
c.1641C>A (p.Arg547=)
c.1989C>A (p.Arg663=)
c.2097C>A (p.Arg699=)
c.2061C>A (p.Arg687=)
c.2019C>A (p.Arg673=)
c.1679+6260C>A (n.1679+6260C>A)
c.2115C>A (p.Arg705=)
c.2181C>A (p.Arg727=)
c.2178C>A (p.Arg726=)
c.2151C>A (p.Arg717=)
c.2070C>A (p.Arg690=)
c.2055C>A (p.Arg685=)
c.1662C>A (p.Arg554=)
c.2124C>A (p.Arg708=)
c.2058C>A (p.Arg686=)
c.2016C>A (p.Arg672=)
c.1089C>A (p.Arg363=)
 gnomAD v4
20g.63407191C>ACA409639052KCNQ2c.2126G>T (p.Arg709Leu)
c.2072G>T (p.Arg691Leu)
c.1469G>T (p.Arg490Leu)
c.1979G>T (p.Arg660Leu)
c.1640G>T (p.Arg547Leu)
c.1988G>T (p.Arg663Leu)
c.2096G>T (p.Arg699Leu)
c.2060G>T (p.Arg687Leu)
c.2018G>T (p.Arg673Leu)
c.1679+6259G>T (n.1679+6259G>T)
c.2114G>T (p.Arg705Leu)
c.2180G>T (p.Arg727Leu)
c.2177G>T (p.Arg726Leu)
c.2150G>T (p.Arg717Leu)
c.2069G>T (p.Arg690Leu)
c.2054G>T (p.Arg685Leu)
c.1661G>T (p.Arg554Leu)
c.2123G>T (p.Arg708Leu)
c.2057G>T (p.Arg686Leu)
c.2015G>T (p.Arg672Leu)
c.1088G>T (p.Arg363Leu)
 gnomAD v4
20g.63407191C=CA2374774478KCNQ2c.2126G= (p.Arg709=)
c.2072G= (p.Arg691=)
c.1469G= (p.Arg490=)
c.1979G= (p.Arg660=)
c.1640G= (p.Arg547=)
c.1988G= (p.Arg663=)
c.2096G= (p.Arg699=)
c.2060G= (p.Arg687=)
c.2018G= (p.Arg673=)
c.1679+6259G= (n.1679+6259G=)
c.2114G= (p.Arg705=)
c.2180G= (p.Arg727=)
c.2177G= (p.Arg726=)
c.2150G= (p.Arg717=)
c.2069G= (p.Arg690=)
c.2054G= (p.Arg685=)
c.1661G= (p.Arg554=)
c.2123G= (p.Arg708=)
c.2057G= (p.Arg686=)
c.2015G= (p.Arg672=)
c.1088G= (p.Arg363=)
20g.63407191C>GCA409639053KCNQ2c.2126G>C (p.Arg709Pro)
c.2072G>C (p.Arg691Pro)
c.1469G>C (p.Arg490Pro)
c.1979G>C (p.Arg660Pro)
c.1640G>C (p.Arg547Pro)
c.1988G>C (p.Arg663Pro)
c.2096G>C (p.Arg699Pro)
c.2060G>C (p.Arg687Pro)
c.2018G>C (p.Arg673Pro)
c.1679+6259G>C (n.1679+6259G>C)
c.2114G>C (p.Arg705Pro)
c.2180G>C (p.Arg727Pro)
c.2177G>C (p.Arg726Pro)
c.2150G>C (p.Arg717Pro)
c.2069G>C (p.Arg690Pro)
c.2054G>C (p.Arg685Pro)
c.1661G>C (p.Arg554Pro)
c.2123G>C (p.Arg708Pro)
c.2057G>C (p.Arg686Pro)
c.2015G>C (p.Arg672Pro)
c.1088G>C (p.Arg363Pro)
 dbSNP gnomAD v2 gnomAD v4
20g.63407191C>TCA315520KCNQ2c.2126G>A (p.Arg709His)
c.2072G>A (p.Arg691His)
c.1469G>A (p.Arg490His)
c.1979G>A (p.Arg660His)
c.1640G>A (p.Arg547His)
c.1988G>A (p.Arg663His)
c.2096G>A (p.Arg699His)
c.2060G>A (p.Arg687His)
c.2018G>A (p.Arg673His)
c.1679+6259G>A (n.1679+6259G>A)
c.2114G>A (p.Arg705His)
c.2180G>A (p.Arg727His)
c.2177G>A (p.Arg726His)
c.2150G>A (p.Arg717His)
c.2069G>A (p.Arg690His)
c.2054G>A (p.Arg685His)
c.1661G>A (p.Arg554His)
c.2123G>A (p.Arg708His)
c.2057G>A (p.Arg686His)
c.2015G>A (p.Arg672His)
c.1088G>A (p.Arg363His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407192G>ACA409639054KCNQ2c.2125C>T (p.Arg709Cys)
c.2071C>T (p.Arg691Cys)
c.1468C>T (p.Arg490Cys)
c.1978C>T (p.Arg660Cys)
c.1639C>T (p.Arg547Cys)
c.1987C>T (p.Arg663Cys)
c.2095C>T (p.Arg699Cys)
c.2059C>T (p.Arg687Cys)
c.2017C>T (p.Arg673Cys)
c.1679+6258C>T (n.1679+6258C>T)
c.2113C>T (p.Arg705Cys)
c.2179C>T (p.Arg727Cys)
c.2176C>T (p.Arg726Cys)
c.2149C>T (p.Arg717Cys)
c.2068C>T (p.Arg690Cys)
c.2053C>T (p.Arg685Cys)
c.1660C>T (p.Arg554Cys)
c.2122C>T (p.Arg708Cys)
c.2056C>T (p.Arg686Cys)
c.2014C>T (p.Arg672Cys)
c.1087C>T (p.Arg363Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407192G>CCA409639055KCNQ2c.2125C>G (p.Arg709Gly)
c.2071C>G (p.Arg691Gly)
c.1468C>G (p.Arg490Gly)
c.1978C>G (p.Arg660Gly)
c.1639C>G (p.Arg547Gly)
c.1987C>G (p.Arg663Gly)
c.2095C>G (p.Arg699Gly)
c.2059C>G (p.Arg687Gly)
c.2017C>G (p.Arg673Gly)
c.1679+6258C>G (n.1679+6258C>G)
c.2113C>G (p.Arg705Gly)
c.2179C>G (p.Arg727Gly)
c.2176C>G (p.Arg726Gly)
c.2149C>G (p.Arg717Gly)
c.2068C>G (p.Arg690Gly)
c.2053C>G (p.Arg685Gly)
c.1660C>G (p.Arg554Gly)
c.2122C>G (p.Arg708Gly)
c.2056C>G (p.Arg686Gly)
c.2014C>G (p.Arg672Gly)
c.1087C>G (p.Arg363Gly)
20g.63407192G=CA2374774479KCNQ2c.2125C= (p.Arg709=)
c.2071C= (p.Arg691=)
c.1468C= (p.Arg490=)
c.1978C= (p.Arg660=)
c.1639C= (p.Arg547=)
c.1987C= (p.Arg663=)
c.2095C= (p.Arg699=)
c.2059C= (p.Arg687=)
c.2017C= (p.Arg673=)
c.1679+6258C= (n.1679+6258C=)
c.2113C= (p.Arg705=)
c.2179C= (p.Arg727=)
c.2176C= (p.Arg726=)
c.2149C= (p.Arg717=)
c.2068C= (p.Arg690=)
c.2053C= (p.Arg685=)
c.1660C= (p.Arg554=)
c.2122C= (p.Arg708=)
c.2056C= (p.Arg686=)
c.2014C= (p.Arg672=)
c.1087C= (p.Arg363=)
20g.63407192G>TCA409639056KCNQ2c.2125C>A (p.Arg709Ser)
c.2071C>A (p.Arg691Ser)
c.1468C>A (p.Arg490Ser)
c.1978C>A (p.Arg660Ser)
c.1639C>A (p.Arg547Ser)
c.1987C>A (p.Arg663Ser)
c.2095C>A (p.Arg699Ser)
c.2059C>A (p.Arg687Ser)
c.2017C>A (p.Arg673Ser)
c.1679+6258C>A (n.1679+6258C>A)
c.2113C>A (p.Arg705Ser)
c.2179C>A (p.Arg727Ser)
c.2176C>A (p.Arg726Ser)
c.2149C>A (p.Arg717Ser)
c.2068C>A (p.Arg690Ser)
c.2053C>A (p.Arg685Ser)
c.1660C>A (p.Arg554Ser)
c.2122C>A (p.Arg708Ser)
c.2056C>A (p.Arg686Ser)
c.2014C>A (p.Arg672Ser)
c.1087C>A (p.Arg363Ser)
 gnomAD v4
20g.63407193C>ACA511339385KCNQ2c.2124G>T (p.Val708=)
c.2070G>T (p.Val690=)
c.1467G>T (p.Val489=)
c.1977G>T (p.Val659=)
c.1638G>T (p.Val546=)
c.1986G>T (p.Val662=)
c.2094G>T (p.Val698=)
c.2058G>T (p.Val686=)
c.2016G>T (p.Val672=)
c.1679+6257G>T (n.1679+6257G>T)
c.2112G>T (p.Val704=)
c.2178G>T (p.Val726=)
c.2175G>T (p.Val725=)
c.2148G>T (p.Val716=)
c.2067G>T (p.Val689=)
c.2052G>T (p.Val684=)
c.1659G>T (p.Val553=)
c.2121G>T (p.Val707=)
c.2055G>T (p.Val685=)
c.2013G>T (p.Val671=)
c.1086G>T (p.Val362=)
20g.63407193C>GCA511339388KCNQ2c.2124G>C (p.Val708=)
c.2070G>C (p.Val690=)
c.1467G>C (p.Val489=)
c.1977G>C (p.Val659=)
c.1638G>C (p.Val546=)
c.1986G>C (p.Val662=)
c.2094G>C (p.Val698=)
c.2058G>C (p.Val686=)
c.2016G>C (p.Val672=)
c.1679+6257G>C (n.1679+6257G>C)
c.2112G>C (p.Val704=)
c.2178G>C (p.Val726=)
c.2175G>C (p.Val725=)
c.2148G>C (p.Val716=)
c.2067G>C (p.Val689=)
c.2052G>C (p.Val684=)
c.1659G>C (p.Val553=)
c.2121G>C (p.Val707=)
c.2055G>C (p.Val685=)
c.2013G>C (p.Val671=)
c.1086G>C (p.Val362=)
20g.63407193C>TCA511339389KCNQ2c.2124G>A (p.Val708=)
c.2070G>A (p.Val690=)
c.1467G>A (p.Val489=)
c.1977G>A (p.Val659=)
c.1638G>A (p.Val546=)
c.1986G>A (p.Val662=)
c.2094G>A (p.Val698=)
c.2058G>A (p.Val686=)
c.2016G>A (p.Val672=)
c.1679+6257G>A (n.1679+6257G>A)
c.2112G>A (p.Val704=)
c.2178G>A (p.Val726=)
c.2175G>A (p.Val725=)
c.2148G>A (p.Val716=)
c.2067G>A (p.Val689=)
c.2052G>A (p.Val684=)
c.1659G>A (p.Val553=)
c.2121G>A (p.Val707=)
c.2055G>A (p.Val685=)
c.2013G>A (p.Val671=)
c.1086G>A (p.Val362=)
20g.63407194A>CCA409639057KCNQ2c.2123T>G (p.Val708Gly)
c.2069T>G (p.Val690Gly)
c.1466T>G (p.Val489Gly)
c.1976T>G (p.Val659Gly)
c.1637T>G (p.Val546Gly)
c.1985T>G (p.Val662Gly)
c.2093T>G (p.Val698Gly)
c.2057T>G (p.Val686Gly)
c.2015T>G (p.Val672Gly)
c.1679+6256T>G (n.1679+6256T>G)
c.2111T>G (p.Val704Gly)
c.2177T>G (p.Val726Gly)
c.2174T>G (p.Val725Gly)
c.2147T>G (p.Val716Gly)
c.2066T>G (p.Val689Gly)
c.2051T>G (p.Val684Gly)
c.1658T>G (p.Val553Gly)
c.2120T>G (p.Val707Gly)
c.2054T>G (p.Val685Gly)
c.2012T>G (p.Val671Gly)
c.1085T>G (p.Val362Gly)
20g.63407194A>GCA409639059KCNQ2c.2123T>C (p.Val708Ala)
c.2069T>C (p.Val690Ala)
c.1466T>C (p.Val489Ala)
c.1976T>C (p.Val659Ala)
c.1637T>C (p.Val546Ala)
c.1985T>C (p.Val662Ala)
c.2093T>C (p.Val698Ala)
c.2057T>C (p.Val686Ala)
c.2015T>C (p.Val672Ala)
c.1679+6256T>C (n.1679+6256T>C)
c.2111T>C (p.Val704Ala)
c.2177T>C (p.Val726Ala)
c.2174T>C (p.Val725Ala)
c.2147T>C (p.Val716Ala)
c.2066T>C (p.Val689Ala)
c.2051T>C (p.Val684Ala)
c.1658T>C (p.Val553Ala)
c.2120T>C (p.Val707Ala)
c.2054T>C (p.Val685Ala)
c.2012T>C (p.Val671Ala)
c.1085T>C (p.Val362Ala)
 gnomAD v4
20g.63407194A>TCA409639058KCNQ2c.2123T>A (p.Val708Glu)
c.2069T>A (p.Val690Glu)
c.1466T>A (p.Val489Glu)
c.1976T>A (p.Val659Glu)
c.1637T>A (p.Val546Glu)
c.1985T>A (p.Val662Glu)
c.2093T>A (p.Val698Glu)
c.2057T>A (p.Val686Glu)
c.2015T>A (p.Val672Glu)
c.1679+6256T>A (n.1679+6256T>A)
c.2111T>A (p.Val704Glu)
c.2177T>A (p.Val726Glu)
c.2174T>A (p.Val725Glu)
c.2147T>A (p.Val716Glu)
c.2066T>A (p.Val689Glu)
c.2051T>A (p.Val684Glu)
c.1658T>A (p.Val553Glu)
c.2120T>A (p.Val707Glu)
c.2054T>A (p.Val685Glu)
c.2012T>A (p.Val671Glu)
c.1085T>A (p.Val362Glu)
20g.63407194_63407195delinsACCA2374774480KCNQ2c.2122_2123delinsGT (p.Val708=)
c.2068_2069delinsGT (p.Val690=)
c.1465_1466delinsGT (p.Val489=)
c.1975_1976delinsGT (p.Val659=)
c.1636_1637delinsGT (p.Val546=)
c.1984_1985delinsGT (p.Val662=)
c.2092_2093delinsGT (p.Val698=)
c.2056_2057delinsGT (p.Val686=)
c.2014_2015delinsGT (p.Val672=)
c.1679+6255_1679+6256delinsGT (n.1679+6255_1679+6256delinsGT)
c.2110_2111delinsGT (p.Val704=)
c.2176_2177delinsGT (p.Val726=)
c.2173_2174delinsGT (p.Val725=)
c.2146_2147delinsGT (p.Val716=)
c.2065_2066delinsGT (p.Val689=)
c.2050_2051delinsGT (p.Val684=)
c.1657_1658delinsGT (p.Val553=)
c.2119_2120delinsGT (p.Val707=)
c.2053_2054delinsGT (p.Val685=)
c.2011_2012delinsGT (p.Val671=)
c.1084_1085delinsGT (p.Val362=)
20g.63407195delCA916083761KCNQ2c.2122del (p.Val708CysfsTer?)
c.2068del (p.Val690CysfsTer?)
c.1465del (p.Val489CysfsTer?)
c.1975del (p.Val659CysfsTer?)
c.1636del (p.Val546CysfsTer?)
c.1984del (p.Val662CysfsTer?)
c.2092del (p.Val698CysfsTer?)
c.2056del (p.Val686CysfsTer?)
c.2014del (p.Val672CysfsTer?)
c.1679+6255del (n.1679+6255del)
c.2110del (p.Val704CysfsTer?)
c.2176del (p.Val726CysfsTer?)
c.2173del (p.Val725CysfsTer?)
c.2146del (p.Val716CysfsTer?)
c.2065del (p.Val689CysfsTer?)
c.2050del (p.Val684CysfsTer?)
c.1657del (p.Val553CysfsTer?)
c.2119del (p.Val707CysfsTer?)
c.2053del (p.Val685CysfsTer?)
c.2011del (p.Val671CysfsTer?)
c.1084del (p.Val362CysfsTer?)
 ClinVar dbSNP
20g.63407195C>ACA409639060KCNQ2c.2122G>T (p.Val708Leu)
c.2068G>T (p.Val690Leu)
c.1465G>T (p.Val489Leu)
c.1975G>T (p.Val659Leu)
c.1636G>T (p.Val546Leu)
c.1984G>T (p.Val662Leu)
c.2092G>T (p.Val698Leu)
c.2056G>T (p.Val686Leu)
c.2014G>T (p.Val672Leu)
c.1679+6255G>T (n.1679+6255G>T)
c.2110G>T (p.Val704Leu)
c.2176G>T (p.Val726Leu)
c.2173G>T (p.Val725Leu)
c.2146G>T (p.Val716Leu)
c.2065G>T (p.Val689Leu)
c.2050G>T (p.Val684Leu)
c.1657G>T (p.Val553Leu)
c.2119G>T (p.Val707Leu)
c.2053G>T (p.Val685Leu)
c.2011G>T (p.Val671Leu)
c.1084G>T (p.Val362Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63407195C=CA2374774481KCNQ2c.2122G= (p.Val708=)
c.2068G= (p.Val690=)
c.1465G= (p.Val489=)
c.1975G= (p.Val659=)
c.1636G= (p.Val546=)
c.1984G= (p.Val662=)
c.2092G= (p.Val698=)
c.2056G= (p.Val686=)
c.2014G= (p.Val672=)
c.1679+6255G= (n.1679+6255G=)
c.2110G= (p.Val704=)
c.2176G= (p.Val726=)
c.2173G= (p.Val725=)
c.2146G= (p.Val716=)
c.2065G= (p.Val689=)
c.2050G= (p.Val684=)
c.1657G= (p.Val553=)
c.2119G= (p.Val707=)
c.2053G= (p.Val685=)
c.2011G= (p.Val671=)
c.1084G= (p.Val362=)
20g.63407195C>GCA409639061KCNQ2c.2122G>C (p.Val708Leu)
c.2068G>C (p.Val690Leu)
c.1465G>C (p.Val489Leu)
c.1975G>C (p.Val659Leu)
c.1636G>C (p.Val546Leu)
c.1984G>C (p.Val662Leu)
c.2092G>C (p.Val698Leu)
c.2056G>C (p.Val686Leu)
c.2014G>C (p.Val672Leu)
c.1679+6255G>C (n.1679+6255G>C)
c.2110G>C (p.Val704Leu)
c.2176G>C (p.Val726Leu)
c.2173G>C (p.Val725Leu)
c.2146G>C (p.Val716Leu)
c.2065G>C (p.Val689Leu)
c.2050G>C (p.Val684Leu)
c.1657G>C (p.Val553Leu)
c.2119G>C (p.Val707Leu)
c.2053G>C (p.Val685Leu)
c.2011G>C (p.Val671Leu)
c.1084G>C (p.Val362Leu)
20g.63407195C>TCA9958158KCNQ2c.2122G>A (p.Val708Met)
c.2068G>A (p.Val690Met)
c.1465G>A (p.Val489Met)
c.1975G>A (p.Val659Met)
c.1636G>A (p.Val546Met)
c.1984G>A (p.Val662Met)
c.2092G>A (p.Val698Met)
c.2056G>A (p.Val686Met)
c.2014G>A (p.Val672Met)
c.1679+6255G>A (n.1679+6255G>A)
c.2110G>A (p.Val704Met)
c.2176G>A (p.Val726Met)
c.2173G>A (p.Val725Met)
c.2146G>A (p.Val716Met)
c.2065G>A (p.Val689Met)
c.2050G>A (p.Val684Met)
c.1657G>A (p.Val553Met)
c.2119G>A (p.Val707Met)
c.2053G>A (p.Val685Met)
c.2011G>A (p.Val671Met)
c.1084G>A (p.Val362Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407196G>ACA317422350KCNQ2c.2121C>T (p.Ile707=)
c.2067C>T (p.Ile689=)
c.1464C>T (p.Ile488=)
c.1974C>T (p.Ile658=)
c.1635C>T (p.Ile545=)
c.1983C>T (p.Ile661=)
c.2091C>T (p.Ile697=)
c.2055C>T (p.Ile685=)
c.2013C>T (p.Ile671=)
c.1679+6254C>T (n.1679+6254C>T)
c.2109C>T (p.Ile703=)
c.2175C>T (p.Ile725=)
c.2172C>T (p.Ile724=)
c.2145C>T (p.Ile715=)
c.2064C>T (p.Ile688=)
c.2049C>T (p.Ile683=)
c.1656C>T (p.Ile552=)
c.2118C>T (p.Ile706=)
c.2052C>T (p.Ile684=)
c.2010C>T (p.Ile670=)
c.1083C>T (p.Ile361=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407196G>CCA9958159KCNQ2c.2121C>G (p.Ile707Met)
c.2067C>G (p.Ile689Met)
c.1464C>G (p.Ile488Met)
c.1974C>G (p.Ile658Met)
c.1635C>G (p.Ile545Met)
c.1983C>G (p.Ile661Met)
c.2091C>G (p.Ile697Met)
c.2055C>G (p.Ile685Met)
c.2013C>G (p.Ile671Met)
c.1679+6254C>G (n.1679+6254C>G)
c.2109C>G (p.Ile703Met)
c.2175C>G (p.Ile725Met)
c.2172C>G (p.Ile724Met)
c.2145C>G (p.Ile715Met)
c.2064C>G (p.Ile688Met)
c.2049C>G (p.Ile683Met)
c.1656C>G (p.Ile552Met)
c.2118C>G (p.Ile706Met)
c.2052C>G (p.Ile684Met)
c.2010C>G (p.Ile670Met)
c.1083C>G (p.Ile361Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407196G=CA2374774482KCNQ2c.2121C= (p.Ile707=)
c.2067C= (p.Ile689=)
c.1464C= (p.Ile488=)
c.1974C= (p.Ile658=)
c.1635C= (p.Ile545=)
c.1983C= (p.Ile661=)
c.2091C= (p.Ile697=)
c.2055C= (p.Ile685=)
c.2013C= (p.Ile671=)
c.1679+6254C= (n.1679+6254C=)
c.2109C= (p.Ile703=)
c.2175C= (p.Ile725=)
c.2172C= (p.Ile724=)
c.2145C= (p.Ile715=)
c.2064C= (p.Ile688=)
c.2049C= (p.Ile683=)
c.1656C= (p.Ile552=)
c.2118C= (p.Ile706=)
c.2052C= (p.Ile684=)
c.2010C= (p.Ile670=)
c.1083C= (p.Ile361=)
20g.63407196G>TCA511339393KCNQ2c.2121C>A (p.Ile707=)
c.2067C>A (p.Ile689=)
c.1464C>A (p.Ile488=)
c.1974C>A (p.Ile658=)
c.1635C>A (p.Ile545=)
c.1983C>A (p.Ile661=)
c.2091C>A (p.Ile697=)
c.2055C>A (p.Ile685=)
c.2013C>A (p.Ile671=)
c.1679+6254C>A (n.1679+6254C>A)
c.2109C>A (p.Ile703=)
c.2175C>A (p.Ile725=)
c.2172C>A (p.Ile724=)
c.2145C>A (p.Ile715=)
c.2064C>A (p.Ile688=)
c.2049C>A (p.Ile683=)
c.1656C>A (p.Ile552=)
c.2118C>A (p.Ile706=)
c.2052C>A (p.Ile684=)
c.2010C>A (p.Ile670=)
c.1083C>A (p.Ile361=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407197A>CCA409639062KCNQ2c.2120T>G (p.Ile707Ser)
c.2066T>G (p.Ile689Ser)
c.1463T>G (p.Ile488Ser)
c.1973T>G (p.Ile658Ser)
c.1634T>G (p.Ile545Ser)
c.1982T>G (p.Ile661Ser)
c.2090T>G (p.Ile697Ser)
c.2054T>G (p.Ile685Ser)
c.2012T>G (p.Ile671Ser)
c.1679+6253T>G (n.1679+6253T>G)
c.2108T>G (p.Ile703Ser)
c.2174T>G (p.Ile725Ser)
c.2171T>G (p.Ile724Ser)
c.2144T>G (p.Ile715Ser)
c.2063T>G (p.Ile688Ser)
c.2048T>G (p.Ile683Ser)
c.1655T>G (p.Ile552Ser)
c.2117T>G (p.Ile706Ser)
c.2051T>G (p.Ile684Ser)
c.2009T>G (p.Ile670Ser)
c.1082T>G (p.Ile361Ser)
20g.63407197A>GCA409639063KCNQ2c.2120T>C (p.Ile707Thr)
c.2066T>C (p.Ile689Thr)
c.1463T>C (p.Ile488Thr)
c.1973T>C (p.Ile658Thr)
c.1634T>C (p.Ile545Thr)
c.1982T>C (p.Ile661Thr)
c.2090T>C (p.Ile697Thr)
c.2054T>C (p.Ile685Thr)
c.2012T>C (p.Ile671Thr)
c.1679+6253T>C (n.1679+6253T>C)
c.2108T>C (p.Ile703Thr)
c.2174T>C (p.Ile725Thr)
c.2171T>C (p.Ile724Thr)
c.2144T>C (p.Ile715Thr)
c.2063T>C (p.Ile688Thr)
c.2048T>C (p.Ile683Thr)
c.1655T>C (p.Ile552Thr)
c.2117T>C (p.Ile706Thr)
c.2051T>C (p.Ile684Thr)
c.2009T>C (p.Ile670Thr)
c.1082T>C (p.Ile361Thr)
20g.63407197A>TCA409639064KCNQ2c.2120T>A (p.Ile707Asn)
c.2066T>A (p.Ile689Asn)
c.1463T>A (p.Ile488Asn)
c.1973T>A (p.Ile658Asn)
c.1634T>A (p.Ile545Asn)
c.1982T>A (p.Ile661Asn)
c.2090T>A (p.Ile697Asn)
c.2054T>A (p.Ile685Asn)
c.2012T>A (p.Ile671Asn)
c.1679+6253T>A (n.1679+6253T>A)
c.2108T>A (p.Ile703Asn)
c.2174T>A (p.Ile725Asn)
c.2171T>A (p.Ile724Asn)
c.2144T>A (p.Ile715Asn)
c.2063T>A (p.Ile688Asn)
c.2048T>A (p.Ile683Asn)
c.1655T>A (p.Ile552Asn)
c.2117T>A (p.Ile706Asn)
c.2051T>A (p.Ile684Asn)
c.2009T>A (p.Ile670Asn)
c.1082T>A (p.Ile361Asn)
20g.63407198T>ACA409639065KCNQ2c.2119A>T (p.Ile707Phe)
c.2065A>T (p.Ile689Phe)
c.1462A>T (p.Ile488Phe)
c.1972A>T (p.Ile658Phe)
c.1633A>T (p.Ile545Phe)
c.1981A>T (p.Ile661Phe)
c.2089A>T (p.Ile697Phe)
c.2053A>T (p.Ile685Phe)
c.2011A>T (p.Ile671Phe)
c.1679+6252A>T (n.1679+6252A>T)
c.2107A>T (p.Ile703Phe)
c.2173A>T (p.Ile725Phe)
c.2170A>T (p.Ile724Phe)
c.2143A>T (p.Ile715Phe)
c.2062A>T (p.Ile688Phe)
c.2047A>T (p.Ile683Phe)
c.1654A>T (p.Ile552Phe)
c.2116A>T (p.Ile706Phe)
c.2050A>T (p.Ile684Phe)
c.2008A>T (p.Ile670Phe)
c.1081A>T (p.Ile361Phe)
 dbSNP gnomAD v3 gnomAD v4
20g.63407198T>CCA409639066KCNQ2c.2119A>G (p.Ile707Val)
c.2065A>G (p.Ile689Val)
c.1462A>G (p.Ile488Val)
c.1972A>G (p.Ile658Val)
c.1633A>G (p.Ile545Val)
c.1981A>G (p.Ile661Val)
c.2089A>G (p.Ile697Val)
c.2053A>G (p.Ile685Val)
c.2011A>G (p.Ile671Val)
c.1679+6252A>G (n.1679+6252A>G)
c.2107A>G (p.Ile703Val)
c.2173A>G (p.Ile725Val)
c.2170A>G (p.Ile724Val)
c.2143A>G (p.Ile715Val)
c.2062A>G (p.Ile688Val)
c.2047A>G (p.Ile683Val)
c.1654A>G (p.Ile552Val)
c.2116A>G (p.Ile706Val)
c.2050A>G (p.Ile684Val)
c.2008A>G (p.Ile670Val)
c.1081A>G (p.Ile361Val)
 gnomAD v4
20g.63407198T>GCA315312KCNQ2c.2119A>C (p.Ile707Leu)
c.2065A>C (p.Ile689Leu)
c.1462A>C (p.Ile488Leu)
c.1972A>C (p.Ile658Leu)
c.1633A>C (p.Ile545Leu)
c.1981A>C (p.Ile661Leu)
c.2089A>C (p.Ile697Leu)
c.2053A>C (p.Ile685Leu)
c.2011A>C (p.Ile671Leu)
c.1679+6252A>C (n.1679+6252A>C)
c.2107A>C (p.Ile703Leu)
c.2173A>C (p.Ile725Leu)
c.2170A>C (p.Ile724Leu)
c.2143A>C (p.Ile715Leu)
c.2062A>C (p.Ile688Leu)
c.2047A>C (p.Ile683Leu)
c.1654A>C (p.Ile552Leu)
c.2116A>C (p.Ile706Leu)
c.2050A>C (p.Ile684Leu)
c.2008A>C (p.Ile670Leu)
c.1081A>C (p.Ile361Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407198T=CA2374774483KCNQ2c.2119A= (p.Ile707=)
c.2065A= (p.Ile689=)
c.1462A= (p.Ile488=)
c.1972A= (p.Ile658=)
c.1633A= (p.Ile545=)
c.1981A= (p.Ile661=)
c.2089A= (p.Ile697=)
c.2053A= (p.Ile685=)
c.2011A= (p.Ile671=)
c.1679+6252A= (n.1679+6252A=)
c.2107A= (p.Ile703=)
c.2173A= (p.Ile725=)
c.2170A= (p.Ile724=)
c.2143A= (p.Ile715=)
c.2062A= (p.Ile688=)
c.2047A= (p.Ile683=)
c.1654A= (p.Ile552=)
c.2116A= (p.Ile706=)
c.2050A= (p.Ile684=)
c.2008A= (p.Ile670=)
c.1081A= (p.Ile361=)
20g.63407199C>ACA409639068KCNQ2c.2118G>T (p.Lys706Asn)
c.2064G>T (p.Lys688Asn)
c.1461G>T (p.Lys487Asn)
c.1971G>T (p.Lys657Asn)
c.1632G>T (p.Lys544Asn)
c.1980G>T (p.Lys660Asn)
c.2088G>T (p.Lys696Asn)
c.2052G>T (p.Lys684Asn)
c.2010G>T (p.Lys670Asn)
c.1679+6251G>T (n.1679+6251G>T)
c.2106G>T (p.Lys702Asn)
c.2172G>T (p.Lys724Asn)
c.2169G>T (p.Lys723Asn)
c.2142G>T (p.Lys714Asn)
c.2061G>T (p.Lys687Asn)
c.2046G>T (p.Lys682Asn)
c.1653G>T (p.Lys551Asn)
c.2115G>T (p.Lys705Asn)
c.2049G>T (p.Lys683Asn)
c.2007G>T (p.Lys669Asn)
c.1080G>T (p.Lys360Asn)
20g.63407199C=CA2374774484KCNQ2c.2118G= (p.Lys706=)
c.2064G= (p.Lys688=)
c.1461G= (p.Lys487=)
c.1971G= (p.Lys657=)
c.1632G= (p.Lys544=)
c.1980G= (p.Lys660=)
c.2088G= (p.Lys696=)
c.2052G= (p.Lys684=)
c.2010G= (p.Lys670=)
c.1679+6251G= (n.1679+6251G=)
c.2106G= (p.Lys702=)
c.2172G= (p.Lys724=)
c.2169G= (p.Lys723=)
c.2142G= (p.Lys714=)
c.2061G= (p.Lys687=)
c.2046G= (p.Lys682=)
c.1653G= (p.Lys551=)
c.2115G= (p.Lys705=)
c.2049G= (p.Lys683=)
c.2007G= (p.Lys669=)
c.1080G= (p.Lys360=)
20g.63407199C>GCA409639067KCNQ2c.2118G>C (p.Lys706Asn)
c.2064G>C (p.Lys688Asn)
c.1461G>C (p.Lys487Asn)
c.1971G>C (p.Lys657Asn)
c.1632G>C (p.Lys544Asn)
c.1980G>C (p.Lys660Asn)
c.2088G>C (p.Lys696Asn)
c.2052G>C (p.Lys684Asn)
c.2010G>C (p.Lys670Asn)
c.1679+6251G>C (n.1679+6251G>C)
c.2106G>C (p.Lys702Asn)
c.2172G>C (p.Lys724Asn)
c.2169G>C (p.Lys723Asn)
c.2142G>C (p.Lys714Asn)
c.2061G>C (p.Lys687Asn)
c.2046G>C (p.Lys682Asn)
c.1653G>C (p.Lys551Asn)
c.2115G>C (p.Lys705Asn)
c.2049G>C (p.Lys683Asn)
c.2007G>C (p.Lys669Asn)
c.1080G>C (p.Lys360Asn)
20g.63407199C>TCA511339397KCNQ2c.2118G>A (p.Lys706=)
c.2064G>A (p.Lys688=)
c.1461G>A (p.Lys487=)
c.1971G>A (p.Lys657=)
c.1632G>A (p.Lys544=)
c.1980G>A (p.Lys660=)
c.2088G>A (p.Lys696=)
c.2052G>A (p.Lys684=)
c.2010G>A (p.Lys670=)
c.1679+6251G>A (n.1679+6251G>A)
c.2106G>A (p.Lys702=)
c.2172G>A (p.Lys724=)
c.2169G>A (p.Lys723=)
c.2142G>A (p.Lys714=)
c.2061G>A (p.Lys687=)
c.2046G>A (p.Lys682=)
c.1653G>A (p.Lys551=)
c.2115G>A (p.Lys705=)
c.2049G>A (p.Lys683=)
c.2007G>A (p.Lys669=)
c.1080G>A (p.Lys360=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407200T>ACA409639069KCNQ2c.2117A>T (p.Lys706Met)
c.2063A>T (p.Lys688Met)
c.1460A>T (p.Lys487Met)
c.1970A>T (p.Lys657Met)
c.1631A>T (p.Lys544Met)
c.1979A>T (p.Lys660Met)
c.2087A>T (p.Lys696Met)
c.2051A>T (p.Lys684Met)
c.2009A>T (p.Lys670Met)
c.1679+6250A>T (n.1679+6250A>T)
c.2105A>T (p.Lys702Met)
c.2171A>T (p.Lys724Met)
c.2168A>T (p.Lys723Met)
c.2141A>T (p.Lys714Met)
c.2060A>T (p.Lys687Met)
c.2045A>T (p.Lys682Met)
c.1652A>T (p.Lys551Met)
c.2114A>T (p.Lys705Met)
c.2048A>T (p.Lys683Met)
c.2006A>T (p.Lys669Met)
c.1079A>T (p.Lys360Met)
20g.63407200T>CCA409639070KCNQ2c.2117A>G (p.Lys706Arg)
c.2063A>G (p.Lys688Arg)
c.1460A>G (p.Lys487Arg)
c.1970A>G (p.Lys657Arg)
c.1631A>G (p.Lys544Arg)
c.1979A>G (p.Lys660Arg)
c.2087A>G (p.Lys696Arg)
c.2051A>G (p.Lys684Arg)
c.2009A>G (p.Lys670Arg)
c.1679+6250A>G (n.1679+6250A>G)
c.2105A>G (p.Lys702Arg)
c.2171A>G (p.Lys724Arg)
c.2168A>G (p.Lys723Arg)
c.2141A>G (p.Lys714Arg)
c.2060A>G (p.Lys687Arg)
c.2045A>G (p.Lys682Arg)
c.1652A>G (p.Lys551Arg)
c.2114A>G (p.Lys705Arg)
c.2048A>G (p.Lys683Arg)
c.2006A>G (p.Lys669Arg)
c.1079A>G (p.Lys360Arg)
20g.63407200T>GCA409639071KCNQ2c.2117A>C (p.Lys706Thr)
c.2063A>C (p.Lys688Thr)
c.1460A>C (p.Lys487Thr)
c.1970A>C (p.Lys657Thr)
c.1631A>C (p.Lys544Thr)
c.1979A>C (p.Lys660Thr)
c.2087A>C (p.Lys696Thr)
c.2051A>C (p.Lys684Thr)
c.2009A>C (p.Lys670Thr)
c.1679+6250A>C (n.1679+6250A>C)
c.2105A>C (p.Lys702Thr)
c.2171A>C (p.Lys724Thr)
c.2168A>C (p.Lys723Thr)
c.2141A>C (p.Lys714Thr)
c.2060A>C (p.Lys687Thr)
c.2045A>C (p.Lys682Thr)
c.1652A>C (p.Lys551Thr)
c.2114A>C (p.Lys705Thr)
c.2048A>C (p.Lys683Thr)
c.2006A>C (p.Lys669Thr)
c.1079A>C (p.Lys360Thr)
20g.63407201T>ACA409639072KCNQ2c.2116A>T (p.Lys706Ter)
c.2062A>T (p.Lys688Ter)
c.1459A>T (p.Lys487Ter)
c.1969A>T (p.Lys657Ter)
c.1630A>T (p.Lys544Ter)
c.1978A>T (p.Lys660Ter)
c.2086A>T (p.Lys696Ter)
c.2050A>T (p.Lys684Ter)
c.2008A>T (p.Lys670Ter)
c.1679+6249A>T (n.1679+6249A>T)
c.2104A>T (p.Lys702Ter)
c.2170A>T (p.Lys724Ter)
c.2167A>T (p.Lys723Ter)
c.2140A>T (p.Lys714Ter)
c.2059A>T (p.Lys687Ter)
c.2044A>T (p.Lys682Ter)
c.1651A>T (p.Lys551Ter)
c.2113A>T (p.Lys705Ter)
c.2047A>T (p.Lys683Ter)
c.2005A>T (p.Lys669Ter)
c.1078A>T (p.Lys360Ter)
20g.63407201T>CCA409639073KCNQ2c.2116A>G (p.Lys706Glu)
c.2062A>G (p.Lys688Glu)
c.1459A>G (p.Lys487Glu)
c.1969A>G (p.Lys657Glu)
c.1630A>G (p.Lys544Glu)
c.1978A>G (p.Lys660Glu)
c.2086A>G (p.Lys696Glu)
c.2050A>G (p.Lys684Glu)
c.2008A>G (p.Lys670Glu)
c.1679+6249A>G (n.1679+6249A>G)
c.2104A>G (p.Lys702Glu)
c.2170A>G (p.Lys724Glu)
c.2167A>G (p.Lys723Glu)
c.2140A>G (p.Lys714Glu)
c.2059A>G (p.Lys687Glu)
c.2044A>G (p.Lys682Glu)
c.1651A>G (p.Lys551Glu)
c.2113A>G (p.Lys705Glu)
c.2047A>G (p.Lys683Glu)
c.2005A>G (p.Lys669Glu)
c.1078A>G (p.Lys360Glu)
 gnomAD v4
20g.63407201T>GCA409639074KCNQ2c.2116A>C (p.Lys706Gln)
c.2062A>C (p.Lys688Gln)
c.1459A>C (p.Lys487Gln)
c.1969A>C (p.Lys657Gln)
c.1630A>C (p.Lys544Gln)
c.1978A>C (p.Lys660Gln)
c.2086A>C (p.Lys696Gln)
c.2050A>C (p.Lys684Gln)
c.2008A>C (p.Lys670Gln)
c.1679+6249A>C (n.1679+6249A>C)
c.2104A>C (p.Lys702Gln)
c.2170A>C (p.Lys724Gln)
c.2167A>C (p.Lys723Gln)
c.2140A>C (p.Lys714Gln)
c.2059A>C (p.Lys687Gln)
c.2044A>C (p.Lys682Gln)
c.1651A>C (p.Lys551Gln)
c.2113A>C (p.Lys705Gln)
c.2047A>C (p.Lys683Gln)
c.2005A>C (p.Lys669Gln)
c.1078A>C (p.Lys360Gln)
20g.63407202G>ACA317422366KCNQ2c.2115C>T (p.Val705=)
c.2061C>T (p.Val687=)
c.1458C>T (p.Val486=)
c.1968C>T (p.Val656=)
c.1629C>T (p.Val543=)
c.1977C>T (p.Val659=)
c.2085C>T (p.Val695=)
c.2049C>T (p.Val683=)
c.2007C>T (p.Val669=)
c.1679+6248C>T (n.1679+6248C>T)
c.2103C>T (p.Val701=)
c.2169C>T (p.Val723=)
c.2166C>T (p.Val722=)
c.2139C>T (p.Val713=)
c.2058C>T (p.Val686=)
c.2043C>T (p.Val681=)
c.1650C>T (p.Val550=)
c.2112C>T (p.Val704=)
c.2046C>T (p.Val682=)
c.2004C>T (p.Val668=)
c.1077C>T (p.Val359=)
 ClinVar dbSNP gnomAD v4
20g.63407202G>CCA511339405KCNQ2c.2115C>G (p.Val705=)
c.2061C>G (p.Val687=)
c.1458C>G (p.Val486=)
c.1968C>G (p.Val656=)
c.1629C>G (p.Val543=)
c.1977C>G (p.Val659=)
c.2085C>G (p.Val695=)
c.2049C>G (p.Val683=)
c.2007C>G (p.Val669=)
c.1679+6248C>G (n.1679+6248C>G)
c.2103C>G (p.Val701=)
c.2169C>G (p.Val723=)
c.2166C>G (p.Val722=)
c.2139C>G (p.Val713=)
c.2058C>G (p.Val686=)
c.2043C>G (p.Val681=)
c.1650C>G (p.Val550=)
c.2112C>G (p.Val704=)
c.2046C>G (p.Val682=)
c.2004C>G (p.Val668=)
c.1077C>G (p.Val359=)
20g.63407202G=CA2374774485KCNQ2c.2115C= (p.Val705=)
c.2061C= (p.Val687=)
c.1458C= (p.Val486=)
c.1968C= (p.Val656=)
c.1629C= (p.Val543=)
c.1977C= (p.Val659=)
c.2085C= (p.Val695=)
c.2049C= (p.Val683=)
c.2007C= (p.Val669=)
c.1679+6248C= (n.1679+6248C=)
c.2103C= (p.Val701=)
c.2169C= (p.Val723=)
c.2166C= (p.Val722=)
c.2139C= (p.Val713=)
c.2058C= (p.Val686=)
c.2043C= (p.Val681=)
c.1650C= (p.Val550=)
c.2112C= (p.Val704=)
c.2046C= (p.Val682=)
c.2004C= (p.Val668=)
c.1077C= (p.Val359=)
20g.63407202G>TCA511339404KCNQ2c.2115C>A (p.Val705=)
c.2061C>A (p.Val687=)
c.1458C>A (p.Val486=)
c.1968C>A (p.Val656=)
c.1629C>A (p.Val543=)
c.1977C>A (p.Val659=)
c.2085C>A (p.Val695=)
c.2049C>A (p.Val683=)
c.2007C>A (p.Val669=)
c.1679+6248C>A (n.1679+6248C>A)
c.2103C>A (p.Val701=)
c.2169C>A (p.Val723=)
c.2166C>A (p.Val722=)
c.2139C>A (p.Val713=)
c.2058C>A (p.Val686=)
c.2043C>A (p.Val681=)
c.1650C>A (p.Val550=)
c.2112C>A (p.Val704=)
c.2046C>A (p.Val682=)
c.2004C>A (p.Val668=)
c.1077C>A (p.Val359=)
 gnomAD v4
20g.63407203A>CCA409639075KCNQ2c.2114T>G (p.Val705Gly)
c.2060T>G (p.Val687Gly)
c.1457T>G (p.Val486Gly)
c.1967T>G (p.Val656Gly)
c.1628T>G (p.Val543Gly)
c.1976T>G (p.Val659Gly)
c.2084T>G (p.Val695Gly)
c.2048T>G (p.Val683Gly)
c.2006T>G (p.Val669Gly)
c.1679+6247T>G (n.1679+6247T>G)
c.2102T>G (p.Val701Gly)
c.2168T>G (p.Val723Gly)
c.2165T>G (p.Val722Gly)
c.2138T>G (p.Val713Gly)
c.2057T>G (p.Val686Gly)
c.2042T>G (p.Val681Gly)
c.1649T>G (p.Val550Gly)
c.2111T>G (p.Val704Gly)
c.2045T>G (p.Val682Gly)
c.2003T>G (p.Val668Gly)
c.1076T>G (p.Val359Gly)
20g.63407203A>GCA409639077KCNQ2c.2114T>C (p.Val705Ala)
c.2060T>C (p.Val687Ala)
c.1457T>C (p.Val486Ala)
c.1967T>C (p.Val656Ala)
c.1628T>C (p.Val543Ala)
c.1976T>C (p.Val659Ala)
c.2084T>C (p.Val695Ala)
c.2048T>C (p.Val683Ala)
c.2006T>C (p.Val669Ala)
c.1679+6247T>C (n.1679+6247T>C)
c.2102T>C (p.Val701Ala)
c.2168T>C (p.Val723Ala)
c.2165T>C (p.Val722Ala)
c.2138T>C (p.Val713Ala)
c.2057T>C (p.Val686Ala)
c.2042T>C (p.Val681Ala)
c.1649T>C (p.Val550Ala)
c.2111T>C (p.Val704Ala)
c.2045T>C (p.Val682Ala)
c.2003T>C (p.Val668Ala)
c.1076T>C (p.Val359Ala)
20g.63407203A>TCA409639076KCNQ2c.2114T>A (p.Val705Asp)
c.2060T>A (p.Val687Asp)
c.1457T>A (p.Val486Asp)
c.1967T>A (p.Val656Asp)
c.1628T>A (p.Val543Asp)
c.1976T>A (p.Val659Asp)
c.2084T>A (p.Val695Asp)
c.2048T>A (p.Val683Asp)
c.2006T>A (p.Val669Asp)
c.1679+6247T>A (n.1679+6247T>A)
c.2102T>A (p.Val701Asp)
c.2168T>A (p.Val723Asp)
c.2165T>A (p.Val722Asp)
c.2138T>A (p.Val713Asp)
c.2057T>A (p.Val686Asp)
c.2042T>A (p.Val681Asp)
c.1649T>A (p.Val550Asp)
c.2111T>A (p.Val704Asp)
c.2045T>A (p.Val682Asp)
c.2003T>A (p.Val668Asp)
c.1076T>A (p.Val359Asp)
20g.63407204C>ACA409639078KCNQ2c.2113G>T (p.Val705Phe)
c.2059G>T (p.Val687Phe)
c.1456G>T (p.Val486Phe)
c.1966G>T (p.Val656Phe)
c.1627G>T (p.Val543Phe)
c.1975G>T (p.Val659Phe)
c.2083G>T (p.Val695Phe)
c.2047G>T (p.Val683Phe)
c.2005G>T (p.Val669Phe)
c.1679+6246G>T (n.1679+6246G>T)
c.2101G>T (p.Val701Phe)
c.2167G>T (p.Val723Phe)
c.2164G>T (p.Val722Phe)
c.2137G>T (p.Val713Phe)
c.2056G>T (p.Val686Phe)
c.2041G>T (p.Val681Phe)
c.1648G>T (p.Val550Phe)
c.2110G>T (p.Val704Phe)
c.2044G>T (p.Val682Phe)
c.2002G>T (p.Val668Phe)
c.1075G>T (p.Val359Phe)
20g.63407204C>GCA409639079KCNQ2c.2113G>C (p.Val705Leu)
c.2059G>C (p.Val687Leu)
c.1456G>C (p.Val486Leu)
c.1966G>C (p.Val656Leu)
c.1627G>C (p.Val543Leu)
c.1975G>C (p.Val659Leu)
c.2083G>C (p.Val695Leu)
c.2047G>C (p.Val683Leu)
c.2005G>C (p.Val669Leu)
c.1679+6246G>C (n.1679+6246G>C)
c.2101G>C (p.Val701Leu)
c.2167G>C (p.Val723Leu)
c.2164G>C (p.Val722Leu)
c.2137G>C (p.Val713Leu)
c.2056G>C (p.Val686Leu)
c.2041G>C (p.Val681Leu)
c.1648G>C (p.Val550Leu)
c.2110G>C (p.Val704Leu)
c.2044G>C (p.Val682Leu)
c.2002G>C (p.Val668Leu)
c.1075G>C (p.Val359Leu)
20g.63407204C>TCA409639080KCNQ2c.2113G>A (p.Val705Ile)
c.2059G>A (p.Val687Ile)
c.1456G>A (p.Val486Ile)
c.1966G>A (p.Val656Ile)
c.1627G>A (p.Val543Ile)
c.1975G>A (p.Val659Ile)
c.2083G>A (p.Val695Ile)
c.2047G>A (p.Val683Ile)
c.2005G>A (p.Val669Ile)
c.1679+6246G>A (n.1679+6246G>A)
c.2101G>A (p.Val701Ile)
c.2167G>A (p.Val723Ile)
c.2164G>A (p.Val722Ile)
c.2137G>A (p.Val713Ile)
c.2056G>A (p.Val686Ile)
c.2041G>A (p.Val681Ile)
c.1648G>A (p.Val550Ile)
c.2110G>A (p.Val704Ile)
c.2044G>A (p.Val682Ile)
c.2002G>A (p.Val668Ile)
c.1075G>A (p.Val359Ile)
 gnomAD v4
20g.63407205A=CA2374774486KCNQ2c.2112T= (p.Ile704=)
c.2058T= (p.Ile686=)
c.1455T= (p.Ile485=)
c.1965T= (p.Ile655=)
c.1626T= (p.Ile542=)
c.1974T= (p.Ile658=)
c.2082T= (p.Ile694=)
c.2046T= (p.Ile682=)
c.2004T= (p.Ile668=)
c.1679+6245T= (n.1679+6245T=)
c.2100T= (p.Ile700=)
c.2166T= (p.Ile722=)
c.2163T= (p.Ile721=)
c.2136T= (p.Ile712=)
c.2055T= (p.Ile685=)
c.2040T= (p.Ile680=)
c.1647T= (p.Ile549=)
c.2109T= (p.Ile703=)
c.2043T= (p.Ile681=)
c.2001T= (p.Ile667=)
c.1074T= (p.Ile358=)
20g.63407205A>CCA409639081KCNQ2c.2112T>G (p.Ile704Met)
c.2058T>G (p.Ile686Met)
c.1455T>G (p.Ile485Met)
c.1965T>G (p.Ile655Met)
c.1626T>G (p.Ile542Met)
c.1974T>G (p.Ile658Met)
c.2082T>G (p.Ile694Met)
c.2046T>G (p.Ile682Met)
c.2004T>G (p.Ile668Met)
c.1679+6245T>G (n.1679+6245T>G)
c.2100T>G (p.Ile700Met)
c.2166T>G (p.Ile722Met)
c.2163T>G (p.Ile721Met)
c.2136T>G (p.Ile712Met)
c.2055T>G (p.Ile685Met)
c.2040T>G (p.Ile680Met)
c.1647T>G (p.Ile549Met)
c.2109T>G (p.Ile703Met)
c.2043T>G (p.Ile681Met)
c.2001T>G (p.Ile667Met)
c.1074T>G (p.Ile358Met)
20g.63407205A>GCA511339408KCNQ2c.2112T>C (p.Ile704=)
c.2058T>C (p.Ile686=)
c.1455T>C (p.Ile485=)
c.1965T>C (p.Ile655=)
c.1626T>C (p.Ile542=)
c.1974T>C (p.Ile658=)
c.2082T>C (p.Ile694=)
c.2046T>C (p.Ile682=)
c.2004T>C (p.Ile668=)
c.1679+6245T>C (n.1679+6245T>C)
c.2100T>C (p.Ile700=)
c.2166T>C (p.Ile722=)
c.2163T>C (p.Ile721=)
c.2136T>C (p.Ile712=)
c.2055T>C (p.Ile685=)
c.2040T>C (p.Ile680=)
c.1647T>C (p.Ile549=)
c.2109T>C (p.Ile703=)
c.2043T>C (p.Ile681=)
c.2001T>C (p.Ile667=)
c.1074T>C (p.Ile358=)
 dbSNP gnomAD v3 gnomAD v4
20g.63407205A>TCA511339407KCNQ2c.2112T>A (p.Ile704=)
c.2058T>A (p.Ile686=)
c.1455T>A (p.Ile485=)
c.1965T>A (p.Ile655=)
c.1626T>A (p.Ile542=)
c.1974T>A (p.Ile658=)
c.2082T>A (p.Ile694=)
c.2046T>A (p.Ile682=)
c.2004T>A (p.Ile668=)
c.1679+6245T>A (n.1679+6245T>A)
c.2100T>A (p.Ile700=)
c.2166T>A (p.Ile722=)
c.2163T>A (p.Ile721=)
c.2136T>A (p.Ile712=)
c.2055T>A (p.Ile685=)
c.2040T>A (p.Ile680=)
c.1647T>A (p.Ile549=)
c.2109T>A (p.Ile703=)
c.2043T>A (p.Ile681=)
c.2001T>A (p.Ile667=)
c.1074T>A (p.Ile358=)
20g.63407206A>CCA409639082KCNQ2c.2111T>G (p.Ile704Ser)
c.2057T>G (p.Ile686Ser)
c.1454T>G (p.Ile485Ser)
c.1964T>G (p.Ile655Ser)
c.1625T>G (p.Ile542Ser)
c.1973T>G (p.Ile658Ser)
c.2081T>G (p.Ile694Ser)
c.2045T>G (p.Ile682Ser)
c.2003T>G (p.Ile668Ser)
c.1679+6244T>G (n.1679+6244T>G)
c.2099T>G (p.Ile700Ser)
c.2165T>G (p.Ile722Ser)
c.2162T>G (p.Ile721Ser)
c.2135T>G (p.Ile712Ser)
c.2054T>G (p.Ile685Ser)
c.2039T>G (p.Ile680Ser)
c.1646T>G (p.Ile549Ser)
c.2108T>G (p.Ile703Ser)
c.2042T>G (p.Ile681Ser)
c.2000T>G (p.Ile667Ser)
c.1073T>G (p.Ile358Ser)
20g.63407206A>GCA409639084KCNQ2c.2111T>C (p.Ile704Thr)
c.2057T>C (p.Ile686Thr)
c.1454T>C (p.Ile485Thr)
c.1964T>C (p.Ile655Thr)
c.1625T>C (p.Ile542Thr)
c.1973T>C (p.Ile658Thr)
c.2081T>C (p.Ile694Thr)
c.2045T>C (p.Ile682Thr)
c.2003T>C (p.Ile668Thr)
c.1679+6244T>C (n.1679+6244T>C)
c.2099T>C (p.Ile700Thr)
c.2165T>C (p.Ile722Thr)
c.2162T>C (p.Ile721Thr)
c.2135T>C (p.Ile712Thr)
c.2054T>C (p.Ile685Thr)
c.2039T>C (p.Ile680Thr)
c.1646T>C (p.Ile549Thr)
c.2108T>C (p.Ile703Thr)
c.2042T>C (p.Ile681Thr)
c.2000T>C (p.Ile667Thr)
c.1073T>C (p.Ile358Thr)
20g.63407206A>TCA409639083KCNQ2c.2111T>A (p.Ile704Asn)
c.2057T>A (p.Ile686Asn)
c.1454T>A (p.Ile485Asn)
c.1964T>A (p.Ile655Asn)
c.1625T>A (p.Ile542Asn)
c.1973T>A (p.Ile658Asn)
c.2081T>A (p.Ile694Asn)
c.2045T>A (p.Ile682Asn)
c.2003T>A (p.Ile668Asn)
c.1679+6244T>A (n.1679+6244T>A)
c.2099T>A (p.Ile700Asn)
c.2165T>A (p.Ile722Asn)
c.2162T>A (p.Ile721Asn)
c.2135T>A (p.Ile712Asn)
c.2054T>A (p.Ile685Asn)
c.2039T>A (p.Ile680Asn)
c.1646T>A (p.Ile549Asn)
c.2108T>A (p.Ile703Asn)
c.2042T>A (p.Ile681Asn)
c.2000T>A (p.Ile667Asn)
c.1073T>A (p.Ile358Asn)
20g.63407207T>ACA409639085KCNQ2c.2110A>T (p.Ile704Phe)
c.2056A>T (p.Ile686Phe)
c.1453A>T (p.Ile485Phe)
c.1963A>T (p.Ile655Phe)
c.1624A>T (p.Ile542Phe)
c.1972A>T (p.Ile658Phe)
c.2080A>T (p.Ile694Phe)
c.2044A>T (p.Ile682Phe)
c.2002A>T (p.Ile668Phe)
c.1679+6243A>T (n.1679+6243A>T)
c.2098A>T (p.Ile700Phe)
c.2164A>T (p.Ile722Phe)
c.2161A>T (p.Ile721Phe)
c.2134A>T (p.Ile712Phe)
c.2053A>T (p.Ile685Phe)
c.2038A>T (p.Ile680Phe)
c.1645A>T (p.Ile549Phe)
c.2107A>T (p.Ile703Phe)
c.2041A>T (p.Ile681Phe)
c.1999A>T (p.Ile667Phe)
c.1072A>T (p.Ile358Phe)
20g.63407207T>CCA9958160KCNQ2c.2110A>G (p.Ile704Val)
c.2056A>G (p.Ile686Val)
c.1453A>G (p.Ile485Val)
c.1963A>G (p.Ile655Val)
c.1624A>G (p.Ile542Val)
c.1972A>G (p.Ile658Val)
c.2080A>G (p.Ile694Val)
c.2044A>G (p.Ile682Val)
c.2002A>G (p.Ile668Val)
c.1679+6243A>G (n.1679+6243A>G)
c.2098A>G (p.Ile700Val)
c.2164A>G (p.Ile722Val)
c.2161A>G (p.Ile721Val)
c.2134A>G (p.Ile712Val)
c.2053A>G (p.Ile685Val)
c.2038A>G (p.Ile680Val)
c.1645A>G (p.Ile549Val)
c.2107A>G (p.Ile703Val)
c.2041A>G (p.Ile681Val)
c.1999A>G (p.Ile667Val)
c.1072A>G (p.Ile358Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407207T>GCA409639086KCNQ2c.2110A>C (p.Ile704Leu)
c.2056A>C (p.Ile686Leu)
c.1453A>C (p.Ile485Leu)
c.1963A>C (p.Ile655Leu)
c.1624A>C (p.Ile542Leu)
c.1972A>C (p.Ile658Leu)
c.2080A>C (p.Ile694Leu)
c.2044A>C (p.Ile682Leu)
c.2002A>C (p.Ile668Leu)
c.1679+6243A>C (n.1679+6243A>C)
c.2098A>C (p.Ile700Leu)
c.2164A>C (p.Ile722Leu)
c.2161A>C (p.Ile721Leu)
c.2134A>C (p.Ile712Leu)
c.2053A>C (p.Ile685Leu)
c.2038A>C (p.Ile680Leu)
c.1645A>C (p.Ile549Leu)
c.2107A>C (p.Ile703Leu)
c.2041A>C (p.Ile681Leu)
c.1999A>C (p.Ile667Leu)
c.1072A>C (p.Ile358Leu)
20g.63407207T=CA2374774487KCNQ2c.2110A= (p.Ile704=)
c.2056A= (p.Ile686=)
c.1453A= (p.Ile485=)
c.1963A= (p.Ile655=)
c.1624A= (p.Ile542=)
c.1972A= (p.Ile658=)
c.2080A= (p.Ile694=)
c.2044A= (p.Ile682=)
c.2002A= (p.Ile668=)
c.1679+6243A= (n.1679+6243A=)
c.2098A= (p.Ile700=)
c.2164A= (p.Ile722=)
c.2161A= (p.Ile721=)
c.2134A= (p.Ile712=)
c.2053A= (p.Ile685=)
c.2038A= (p.Ile680=)
c.1645A= (p.Ile549=)
c.2107A= (p.Ile703=)
c.2041A= (p.Ile681=)
c.1999A= (p.Ile667=)
c.1072A= (p.Ile358=)
20g.63407208G>ACA511339410KCNQ2c.2109C>T (p.Cys703=)
c.2055C>T (p.Cys685=)
c.1452C>T (p.Cys484=)
c.1962C>T (p.Cys654=)
c.1623C>T (p.Cys541=)
c.1971C>T (p.Cys657=)
c.2079C>T (p.Cys693=)
c.2043C>T (p.Cys681=)
c.2001C>T (p.Cys667=)
c.1679+6242C>T (n.1679+6242C>T)
c.2097C>T (p.Cys699=)
c.2163C>T (p.Cys721=)
c.2160C>T (p.Cys720=)
c.2133C>T (p.Cys711=)
c.2052C>T (p.Cys684=)
c.2037C>T (p.Cys679=)
c.1644C>T (p.Cys548=)
c.2106C>T (p.Cys702=)
c.2040C>T (p.Cys680=)
c.1998C>T (p.Cys666=)
c.1071C>T (p.Cys357=)
 gnomAD v4
20g.63407208G>CCA409639087KCNQ2c.2109C>G (p.Cys703Trp)
c.2055C>G (p.Cys685Trp)
c.1452C>G (p.Cys484Trp)
c.1962C>G (p.Cys654Trp)
c.1623C>G (p.Cys541Trp)
c.1971C>G (p.Cys657Trp)
c.2079C>G (p.Cys693Trp)
c.2043C>G (p.Cys681Trp)
c.2001C>G (p.Cys667Trp)
c.1679+6242C>G (n.1679+6242C>G)
c.2097C>G (p.Cys699Trp)
c.2163C>G (p.Cys721Trp)
c.2160C>G (p.Cys720Trp)
c.2133C>G (p.Cys711Trp)
c.2052C>G (p.Cys684Trp)
c.2037C>G (p.Cys679Trp)
c.1644C>G (p.Cys548Trp)
c.2106C>G (p.Cys702Trp)
c.2040C>G (p.Cys680Trp)
c.1998C>G (p.Cys666Trp)
c.1071C>G (p.Cys357Trp)
20g.63407208G>TCA409639088KCNQ2c.2109C>A (p.Cys703Ter)
c.2055C>A (p.Cys685Ter)
c.1452C>A (p.Cys484Ter)
c.1962C>A (p.Cys654Ter)
c.1623C>A (p.Cys541Ter)
c.1971C>A (p.Cys657Ter)
c.2079C>A (p.Cys693Ter)
c.2043C>A (p.Cys681Ter)
c.2001C>A (p.Cys667Ter)
c.1679+6242C>A (n.1679+6242C>A)
c.2097C>A (p.Cys699Ter)
c.2163C>A (p.Cys721Ter)
c.2160C>A (p.Cys720Ter)
c.2133C>A (p.Cys711Ter)
c.2052C>A (p.Cys684Ter)
c.2037C>A (p.Cys679Ter)
c.1644C>A (p.Cys548Ter)
c.2106C>A (p.Cys702Ter)
c.2040C>A (p.Cys680Ter)
c.1998C>A (p.Cys666Ter)
c.1071C>A (p.Cys357Ter)
 gnomAD v4
20g.63407209C>ACA409639089KCNQ2c.2108G>T (p.Cys703Phe)
c.2054G>T (p.Cys685Phe)
c.1451G>T (p.Cys484Phe)
c.1961G>T (p.Cys654Phe)
c.1622G>T (p.Cys541Phe)
c.1970G>T (p.Cys657Phe)
c.2078G>T (p.Cys693Phe)
c.2042G>T (p.Cys681Phe)
c.2000G>T (p.Cys667Phe)
c.1679+6241G>T (n.1679+6241G>T)
c.2096G>T (p.Cys699Phe)
c.2162G>T (p.Cys721Phe)
c.2159G>T (p.Cys720Phe)
c.2132G>T (p.Cys711Phe)
c.2051G>T (p.Cys684Phe)
c.2036G>T (p.Cys679Phe)
c.1643G>T (p.Cys548Phe)
c.2105G>T (p.Cys702Phe)
c.2039G>T (p.Cys680Phe)
c.1997G>T (p.Cys666Phe)
c.1070G>T (p.Cys357Phe)
 gnomAD v4
20g.63407209C=CA2374774488KCNQ2c.2108G= (p.Cys703=)
c.2054G= (p.Cys685=)
c.1451G= (p.Cys484=)
c.1961G= (p.Cys654=)
c.1622G= (p.Cys541=)
c.1970G= (p.Cys657=)
c.2078G= (p.Cys693=)
c.2042G= (p.Cys681=)
c.2000G= (p.Cys667=)
c.1679+6241G= (n.1679+6241G=)
c.2096G= (p.Cys699=)
c.2162G= (p.Cys721=)
c.2159G= (p.Cys720=)
c.2132G= (p.Cys711=)
c.2051G= (p.Cys684=)
c.2036G= (p.Cys679=)
c.1643G= (p.Cys548=)
c.2105G= (p.Cys702=)
c.2039G= (p.Cys680=)
c.1997G= (p.Cys666=)
c.1070G= (p.Cys357=)
20g.63407209C>GCA409639090KCNQ2c.2108G>C (p.Cys703Ser)
c.2054G>C (p.Cys685Ser)
c.1451G>C (p.Cys484Ser)
c.1961G>C (p.Cys654Ser)
c.1622G>C (p.Cys541Ser)
c.1970G>C (p.Cys657Ser)
c.2078G>C (p.Cys693Ser)
c.2042G>C (p.Cys681Ser)
c.2000G>C (p.Cys667Ser)
c.1679+6241G>C (n.1679+6241G>C)
c.2096G>C (p.Cys699Ser)
c.2162G>C (p.Cys721Ser)
c.2159G>C (p.Cys720Ser)
c.2132G>C (p.Cys711Ser)
c.2051G>C (p.Cys684Ser)
c.2036G>C (p.Cys679Ser)
c.1643G>C (p.Cys548Ser)
c.2105G>C (p.Cys702Ser)
c.2039G>C (p.Cys680Ser)
c.1997G>C (p.Cys666Ser)
c.1070G>C (p.Cys357Ser)
20g.63407209C>TCA409639091KCNQ2c.2108G>A (p.Cys703Tyr)
c.2054G>A (p.Cys685Tyr)
c.1451G>A (p.Cys484Tyr)
c.1961G>A (p.Cys654Tyr)
c.1622G>A (p.Cys541Tyr)
c.1970G>A (p.Cys657Tyr)
c.2078G>A (p.Cys693Tyr)
c.2042G>A (p.Cys681Tyr)
c.2000G>A (p.Cys667Tyr)
c.1679+6241G>A (n.1679+6241G>A)
c.2096G>A (p.Cys699Tyr)
c.2162G>A (p.Cys721Tyr)
c.2159G>A (p.Cys720Tyr)
c.2132G>A (p.Cys711Tyr)
c.2051G>A (p.Cys684Tyr)
c.2036G>A (p.Cys679Tyr)
c.1643G>A (p.Cys548Tyr)
c.2105G>A (p.Cys702Tyr)
c.2039G>A (p.Cys680Tyr)
c.1997G>A (p.Cys666Tyr)
c.1070G>A (p.Cys357Tyr)
 dbSNP gnomAD v4
20g.63407210A>CCA409639092KCNQ2c.2107T>G (p.Cys703Gly)
c.2053T>G (p.Cys685Gly)
c.1450T>G (p.Cys484Gly)
c.1960T>G (p.Cys654Gly)
c.1621T>G (p.Cys541Gly)
c.1969T>G (p.Cys657Gly)
c.2077T>G (p.Cys693Gly)
c.2041T>G (p.Cys681Gly)
c.1999T>G (p.Cys667Gly)
c.1679+6240T>G (n.1679+6240T>G)
c.2095T>G (p.Cys699Gly)
c.2161T>G (p.Cys721Gly)
c.2158T>G (p.Cys720Gly)
c.2131T>G (p.Cys711Gly)
c.2050T>G (p.Cys684Gly)
c.2035T>G (p.Cys679Gly)
c.1642T>G (p.Cys548Gly)
c.2104T>G (p.Cys702Gly)
c.2038T>G (p.Cys680Gly)
c.1996T>G (p.Cys666Gly)
c.1069T>G (p.Cys357Gly)
20g.63407210A>GCA409639093KCNQ2c.2107T>C (p.Cys703Arg)
c.2053T>C (p.Cys685Arg)
c.1450T>C (p.Cys484Arg)
c.1960T>C (p.Cys654Arg)
c.1621T>C (p.Cys541Arg)
c.1969T>C (p.Cys657Arg)
c.2077T>C (p.Cys693Arg)
c.2041T>C (p.Cys681Arg)
c.1999T>C (p.Cys667Arg)
c.1679+6240T>C (n.1679+6240T>C)
c.2095T>C (p.Cys699Arg)
c.2161T>C (p.Cys721Arg)
c.2158T>C (p.Cys720Arg)
c.2131T>C (p.Cys711Arg)
c.2050T>C (p.Cys684Arg)
c.2035T>C (p.Cys679Arg)
c.1642T>C (p.Cys548Arg)
c.2104T>C (p.Cys702Arg)
c.2038T>C (p.Cys680Arg)
c.1996T>C (p.Cys666Arg)
c.1069T>C (p.Cys357Arg)
20g.63407210A>TCA409639094KCNQ2c.2107T>A (p.Cys703Ser)
c.2053T>A (p.Cys685Ser)
c.1450T>A (p.Cys484Ser)
c.1960T>A (p.Cys654Ser)
c.1621T>A (p.Cys541Ser)
c.1969T>A (p.Cys657Ser)
c.2077T>A (p.Cys693Ser)
c.2041T>A (p.Cys681Ser)
c.1999T>A (p.Cys667Ser)
c.1679+6240T>A (n.1679+6240T>A)
c.2095T>A (p.Cys699Ser)
c.2161T>A (p.Cys721Ser)
c.2158T>A (p.Cys720Ser)
c.2131T>A (p.Cys711Ser)
c.2050T>A (p.Cys684Ser)
c.2035T>A (p.Cys679Ser)
c.1642T>A (p.Cys548Ser)
c.2104T>A (p.Cys702Ser)
c.2038T>A (p.Cys680Ser)
c.1996T>A (p.Cys666Ser)
c.1069T>A (p.Cys357Ser)
20g.63407211G>ACA9958161KCNQ2c.2106C>T (p.Gly702=)
c.2052C>T (p.Gly684=)
c.1449C>T (p.Gly483=)
c.1959C>T (p.Gly653=)
c.1620C>T (p.Gly540=)
c.1968C>T (p.Gly656=)
c.2076C>T (p.Gly692=)
c.2040C>T (p.Gly680=)
c.1998C>T (p.Gly666=)
c.1679+6239C>T (n.1679+6239C>T)
c.2094C>T (p.Gly698=)
c.2160C>T (p.Gly720=)
c.2157C>T (p.Gly719=)
c.2130C>T (p.Gly710=)
c.2049C>T (p.Gly683=)
c.2034C>T (p.Gly678=)
c.1641C>T (p.Gly547=)
c.2103C>T (p.Gly701=)
c.2037C>T (p.Gly679=)
c.1995C>T (p.Gly665=)
c.1068C>T (p.Gly356=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407211G>CCA511339412KCNQ2c.2106C>G (p.Gly702=)
c.2052C>G (p.Gly684=)
c.1449C>G (p.Gly483=)
c.1959C>G (p.Gly653=)
c.1620C>G (p.Gly540=)
c.1968C>G (p.Gly656=)
c.2076C>G (p.Gly692=)
c.2040C>G (p.Gly680=)
c.1998C>G (p.Gly666=)
c.1679+6239C>G (n.1679+6239C>G)
c.2094C>G (p.Gly698=)
c.2160C>G (p.Gly720=)
c.2157C>G (p.Gly719=)
c.2130C>G (p.Gly710=)
c.2049C>G (p.Gly683=)
c.2034C>G (p.Gly678=)
c.1641C>G (p.Gly547=)
c.2103C>G (p.Gly701=)
c.2037C>G (p.Gly679=)
c.1995C>G (p.Gly665=)
c.1068C>G (p.Gly356=)
 dbSNP gnomAD v2 gnomAD v4
20g.63407211G=CA2374774489KCNQ2c.2106C= (p.Gly702=)
c.2052C= (p.Gly684=)
c.1449C= (p.Gly483=)
c.1959C= (p.Gly653=)
c.1620C= (p.Gly540=)
c.1968C= (p.Gly656=)
c.2076C= (p.Gly692=)
c.2040C= (p.Gly680=)
c.1998C= (p.Gly666=)
c.1679+6239C= (n.1679+6239C=)
c.2094C= (p.Gly698=)
c.2160C= (p.Gly720=)
c.2157C= (p.Gly719=)
c.2130C= (p.Gly710=)
c.2049C= (p.Gly683=)
c.2034C= (p.Gly678=)
c.1641C= (p.Gly547=)
c.2103C= (p.Gly701=)
c.2037C= (p.Gly679=)
c.1995C= (p.Gly665=)
c.1068C= (p.Gly356=)
20g.63407211G>TCA511339413KCNQ2c.2106C>A (p.Gly702=)
c.2052C>A (p.Gly684=)
c.1449C>A (p.Gly483=)
c.1959C>A (p.Gly653=)
c.1620C>A (p.Gly540=)
c.1968C>A (p.Gly656=)
c.2076C>A (p.Gly692=)
c.2040C>A (p.Gly680=)
c.1998C>A (p.Gly666=)
c.1679+6239C>A (n.1679+6239C>A)
c.2094C>A (p.Gly698=)
c.2160C>A (p.Gly720=)
c.2157C>A (p.Gly719=)
c.2130C>A (p.Gly710=)
c.2049C>A (p.Gly683=)
c.2034C>A (p.Gly678=)
c.1641C>A (p.Gly547=)
c.2103C>A (p.Gly701=)
c.2037C>A (p.Gly679=)
c.1995C>A (p.Gly665=)
c.1068C>A (p.Gly356=)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407213_63407229delCA2739277256KCNQ2c.2090_2106del (p.His697LeufsTer?)
c.2036_2052del (p.His679LeufsTer?)
c.1433_1449del (p.His478LeufsTer?)
c.1943_1959del (p.His648LeufsTer?)
c.1604_1620del (p.His535LeufsTer?)
c.1952_1968del (p.His651LeufsTer?)
c.2060_2076del (p.His687LeufsTer?)
c.2024_2040del (p.His675LeufsTer?)
c.1982_1998del (p.His661LeufsTer?)
c.1679+6223_1679+6239del (n.1679+6223_1679+6239del)
c.2078_2094del (p.His693LeufsTer?)
c.2144_2160del (p.His715LeufsTer?)
c.2141_2157del (p.His714LeufsTer?)
c.2114_2130del (p.His705LeufsTer?)
c.2033_2049del (p.His678LeufsTer?)
c.2018_2034del (p.His673LeufsTer?)
c.1625_1641del (p.His542LeufsTer?)
c.2087_2103del (p.His696LeufsTer?)
c.2021_2037del (p.His674LeufsTer?)
c.1979_1995del (p.His660LeufsTer?)
c.1052_1068del (p.His351LeufsTer?)
 ClinVar
20g.63407212C>ACA409639096KCNQ2c.2105G>T (p.Gly702Val)
c.2051G>T (p.Gly684Val)
c.1448G>T (p.Gly483Val)
c.1958G>T (p.Gly653Val)
c.1619G>T (p.Gly540Val)
c.1967G>T (p.Gly656Val)
c.2075G>T (p.Gly692Val)
c.2039G>T (p.Gly680Val)
c.1997G>T (p.Gly666Val)
c.1679+6238G>T (n.1679+6238G>T)
c.2093G>T (p.Gly698Val)
c.2159G>T (p.Gly720Val)
c.2156G>T (p.Gly719Val)
c.2129G>T (p.Gly710Val)
c.2048G>T (p.Gly683Val)
c.2033G>T (p.Gly678Val)
c.1640G>T (p.Gly547Val)
c.2102G>T (p.Gly701Val)
c.2036G>T (p.Gly679Val)
c.1994G>T (p.Gly665Val)
c.1067G>T (p.Gly356Val)
 gnomAD v4
20g.63407212C>GCA409639095KCNQ2c.2105G>C (p.Gly702Ala)
c.2051G>C (p.Gly684Ala)
c.1448G>C (p.Gly483Ala)
c.1958G>C (p.Gly653Ala)
c.1619G>C (p.Gly540Ala)
c.1967G>C (p.Gly656Ala)
c.2075G>C (p.Gly692Ala)
c.2039G>C (p.Gly680Ala)
c.1997G>C (p.Gly666Ala)
c.1679+6238G>C (n.1679+6238G>C)
c.2093G>C (p.Gly698Ala)
c.2159G>C (p.Gly720Ala)
c.2156G>C (p.Gly719Ala)
c.2129G>C (p.Gly710Ala)
c.2048G>C (p.Gly683Ala)
c.2033G>C (p.Gly678Ala)
c.1640G>C (p.Gly547Ala)
c.2102G>C (p.Gly701Ala)
c.2036G>C (p.Gly679Ala)
c.1994G>C (p.Gly665Ala)
c.1067G>C (p.Gly356Ala)
20g.63407212C>TCA409639097KCNQ2c.2105G>A (p.Gly702Asp)
c.2051G>A (p.Gly684Asp)
c.1448G>A (p.Gly483Asp)
c.1958G>A (p.Gly653Asp)
c.1619G>A (p.Gly540Asp)
c.1967G>A (p.Gly656Asp)
c.2075G>A (p.Gly692Asp)
c.2039G>A (p.Gly680Asp)
c.1997G>A (p.Gly666Asp)
c.1679+6238G>A (n.1679+6238G>A)
c.2093G>A (p.Gly698Asp)
c.2159G>A (p.Gly720Asp)
c.2156G>A (p.Gly719Asp)
c.2129G>A (p.Gly710Asp)
c.2048G>A (p.Gly683Asp)
c.2033G>A (p.Gly678Asp)
c.1640G>A (p.Gly547Asp)
c.2102G>A (p.Gly701Asp)
c.2036G>A (p.Gly679Asp)
c.1994G>A (p.Gly665Asp)
c.1067G>A (p.Gly356Asp)
 gnomAD v4
20g.63407213C>ACA409639098KCNQ2c.2104G>T (p.Gly702Cys)
c.2050G>T (p.Gly684Cys)
c.1447G>T (p.Gly483Cys)
c.1957G>T (p.Gly653Cys)
c.1618G>T (p.Gly540Cys)
c.1966G>T (p.Gly656Cys)
c.2074G>T (p.Gly692Cys)
c.2038G>T (p.Gly680Cys)
c.1996G>T (p.Gly666Cys)
c.1679+6237G>T (n.1679+6237G>T)
c.2092G>T (p.Gly698Cys)
c.2158G>T (p.Gly720Cys)
c.2155G>T (p.Gly719Cys)
c.2128G>T (p.Gly710Cys)
c.2047G>T (p.Gly683Cys)
c.2032G>T (p.Gly678Cys)
c.1639G>T (p.Gly547Cys)
c.2101G>T (p.Gly701Cys)
c.2035G>T (p.Gly679Cys)
c.1993G>T (p.Gly665Cys)
c.1066G>T (p.Gly356Cys)
 gnomAD v4
20g.63407213C=CA2374774490KCNQ2c.2104G= (p.Gly702=)
c.2050G= (p.Gly684=)
c.1447G= (p.Gly483=)
c.1957G= (p.Gly653=)
c.1618G= (p.Gly540=)
c.1966G= (p.Gly656=)
c.2074G= (p.Gly692=)
c.2038G= (p.Gly680=)
c.1996G= (p.Gly666=)
c.1679+6237G= (n.1679+6237G=)
c.2092G= (p.Gly698=)
c.2158G= (p.Gly720=)
c.2155G= (p.Gly719=)
c.2128G= (p.Gly710=)
c.2047G= (p.Gly683=)
c.2032G= (p.Gly678=)
c.1639G= (p.Gly547=)
c.2101G= (p.Gly701=)
c.2035G= (p.Gly679=)
c.1993G= (p.Gly665=)
c.1066G= (p.Gly356=)
20g.63407213C>GCA409639099KCNQ2c.2104G>C (p.Gly702Arg)
c.2050G>C (p.Gly684Arg)
c.1447G>C (p.Gly483Arg)
c.1957G>C (p.Gly653Arg)
c.1618G>C (p.Gly540Arg)
c.1966G>C (p.Gly656Arg)
c.2074G>C (p.Gly692Arg)
c.2038G>C (p.Gly680Arg)
c.1996G>C (p.Gly666Arg)
c.1679+6237G>C (n.1679+6237G>C)
c.2092G>C (p.Gly698Arg)
c.2158G>C (p.Gly720Arg)
c.2155G>C (p.Gly719Arg)
c.2128G>C (p.Gly710Arg)
c.2047G>C (p.Gly683Arg)
c.2032G>C (p.Gly678Arg)
c.1639G>C (p.Gly547Arg)
c.2101G>C (p.Gly701Arg)
c.2035G>C (p.Gly679Arg)
c.1993G>C (p.Gly665Arg)
c.1066G>C (p.Gly356Arg)
20g.63407213C>TCA315516KCNQ2c.2104G>A (p.Gly702Ser)
c.2050G>A (p.Gly684Ser)
c.1447G>A (p.Gly483Ser)
c.1957G>A (p.Gly653Ser)
c.1618G>A (p.Gly540Ser)
c.1966G>A (p.Gly656Ser)
c.2074G>A (p.Gly692Ser)
c.2038G>A (p.Gly680Ser)
c.1996G>A (p.Gly666Ser)
c.1679+6237G>A (n.1679+6237G>A)
c.2092G>A (p.Gly698Ser)
c.2158G>A (p.Gly720Ser)
c.2155G>A (p.Gly719Ser)
c.2128G>A (p.Gly710Ser)
c.2047G>A (p.Gly683Ser)
c.2032G>A (p.Gly678Ser)
c.1639G>A (p.Gly547Ser)
c.2101G>A (p.Gly701Ser)
c.2035G>A (p.Gly679Ser)
c.1993G>A (p.Gly665Ser)
c.1066G>A (p.Gly356Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407214G>ACA9958162KCNQ2c.2103C>T (p.His701=)
c.2049C>T (p.His683=)
c.1446C>T (p.His482=)
c.1956C>T (p.His652=)
c.1617C>T (p.His539=)
c.1965C>T (p.His655=)
c.2073C>T (p.His691=)
c.2037C>T (p.His679=)
c.1995C>T (p.His665=)
c.1679+6236C>T (n.1679+6236C>T)
c.2091C>T (p.His697=)
c.2157C>T (p.His719=)
c.2154C>T (p.His718=)
c.2127C>T (p.His709=)
c.2046C>T (p.His682=)
c.2031C>T (p.His677=)
c.1638C>T (p.His546=)
c.2100C>T (p.His700=)
c.2034C>T (p.His678=)
c.1992C>T (p.His664=)
c.1065C>T (p.His355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407214G>CCA409639100KCNQ2c.2103C>G (p.His701Gln)
c.2049C>G (p.His683Gln)
c.1446C>G (p.His482Gln)
c.1956C>G (p.His652Gln)
c.1617C>G (p.His539Gln)
c.1965C>G (p.His655Gln)
c.2073C>G (p.His691Gln)
c.2037C>G (p.His679Gln)
c.1995C>G (p.His665Gln)
c.1679+6236C>G (n.1679+6236C>G)
c.2091C>G (p.His697Gln)
c.2157C>G (p.His719Gln)
c.2154C>G (p.His718Gln)
c.2127C>G (p.His709Gln)
c.2046C>G (p.His682Gln)
c.2031C>G (p.His677Gln)
c.1638C>G (p.His546Gln)
c.2100C>G (p.His700Gln)
c.2034C>G (p.His678Gln)
c.1992C>G (p.His664Gln)
c.1065C>G (p.His355Gln)
20g.63407214G=CA2374774491KCNQ2c.2103C= (p.His701=)
c.2049C= (p.His683=)
c.1446C= (p.His482=)
c.1956C= (p.His652=)
c.1617C= (p.His539=)
c.1965C= (p.His655=)
c.2073C= (p.His691=)
c.2037C= (p.His679=)
c.1995C= (p.His665=)
c.1679+6236C= (n.1679+6236C=)
c.2091C= (p.His697=)
c.2157C= (p.His719=)
c.2154C= (p.His718=)
c.2127C= (p.His709=)
c.2046C= (p.His682=)
c.2031C= (p.His677=)
c.1638C= (p.His546=)
c.2100C= (p.His700=)
c.2034C= (p.His678=)
c.1992C= (p.His664=)
c.1065C= (p.His355=)
20g.63407214G>TCA409639101KCNQ2c.2103C>A (p.His701Gln)
c.2049C>A (p.His683Gln)
c.1446C>A (p.His482Gln)
c.1956C>A (p.His652Gln)
c.1617C>A (p.His539Gln)
c.1965C>A (p.His655Gln)
c.2073C>A (p.His691Gln)
c.2037C>A (p.His679Gln)
c.1995C>A (p.His665Gln)
c.1679+6236C>A (n.1679+6236C>A)
c.2091C>A (p.His697Gln)
c.2157C>A (p.His719Gln)
c.2154C>A (p.His718Gln)
c.2127C>A (p.His709Gln)
c.2046C>A (p.His682Gln)
c.2031C>A (p.His677Gln)
c.1638C>A (p.His546Gln)
c.2100C>A (p.His700Gln)
c.2034C>A (p.His678Gln)
c.1992C>A (p.His664Gln)
c.1065C>A (p.His355Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407215_63407216delCA915952958KCNQ2c.2102_2103del (p.His701ArgfsTer?)
c.2048_2049del (p.His683ArgfsTer?)
c.1445_1446del (p.His482ArgfsTer?)
c.1955_1956del (p.His652ArgfsTer?)
c.1616_1617del (p.His539ArgfsTer?)
c.1964_1965del (p.His655ArgfsTer?)
c.2072_2073del (p.His691ArgfsTer?)
c.2036_2037del (p.His679ArgfsTer?)
c.1994_1995del (p.His665ArgfsTer?)
c.1679+6235_1679+6236del (n.1679+6235_1679+6236del)
c.2090_2091del (p.His697ArgfsTer?)
c.2156_2157del (p.His719ArgfsTer?)
c.2153_2154del (p.His718ArgfsTer?)
c.2126_2127del (p.His709ArgfsTer?)
c.2045_2046del (p.His682ArgfsTer?)
c.2030_2031del (p.His677ArgfsTer?)
c.1637_1638del (p.His546ArgfsTer?)
c.2099_2100del (p.His700ArgfsTer?)
c.2033_2034del (p.His678ArgfsTer?)
c.1991_1992del (p.His664ArgfsTer?)
c.1064_1065del (p.His355ArgfsTer?)
 ClinVar
20g.63407215T>ACA409639102KCNQ2c.2102A>T (p.His701Leu)
c.2048A>T (p.His683Leu)
c.1445A>T (p.His482Leu)
c.1955A>T (p.His652Leu)
c.1616A>T (p.His539Leu)
c.1964A>T (p.His655Leu)
c.2072A>T (p.His691Leu)
c.2036A>T (p.His679Leu)
c.1994A>T (p.His665Leu)
c.1679+6235A>T (n.1679+6235A>T)
c.2090A>T (p.His697Leu)
c.2156A>T (p.His719Leu)
c.2153A>T (p.His718Leu)
c.2126A>T (p.His709Leu)
c.2045A>T (p.His682Leu)
c.2030A>T (p.His677Leu)
c.1637A>T (p.His546Leu)
c.2099A>T (p.His700Leu)
c.2033A>T (p.His678Leu)
c.1991A>T (p.His664Leu)
c.1064A>T (p.His355Leu)
20g.63407215T>CCA409639103KCNQ2c.2102A>G (p.His701Arg)
c.2048A>G (p.His683Arg)
c.1445A>G (p.His482Arg)
c.1955A>G (p.His652Arg)
c.1616A>G (p.His539Arg)
c.1964A>G (p.His655Arg)
c.2072A>G (p.His691Arg)
c.2036A>G (p.His679Arg)
c.1994A>G (p.His665Arg)
c.1679+6235A>G (n.1679+6235A>G)
c.2090A>G (p.His697Arg)
c.2156A>G (p.His719Arg)
c.2153A>G (p.His718Arg)
c.2126A>G (p.His709Arg)
c.2045A>G (p.His682Arg)
c.2030A>G (p.His677Arg)
c.1637A>G (p.His546Arg)
c.2099A>G (p.His700Arg)
c.2033A>G (p.His678Arg)
c.1991A>G (p.His664Arg)
c.1064A>G (p.His355Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407215T>GCA409639104KCNQ2c.2102A>C (p.His701Pro)
c.2048A>C (p.His683Pro)
c.1445A>C (p.His482Pro)
c.1955A>C (p.His652Pro)
c.1616A>C (p.His539Pro)
c.1964A>C (p.His655Pro)
c.2072A>C (p.His691Pro)
c.2036A>C (p.His679Pro)
c.1994A>C (p.His665Pro)
c.1679+6235A>C (n.1679+6235A>C)
c.2090A>C (p.His697Pro)
c.2156A>C (p.His719Pro)
c.2153A>C (p.His718Pro)
c.2126A>C (p.His709Pro)
c.2045A>C (p.His682Pro)
c.2030A>C (p.His677Pro)
c.1637A>C (p.His546Pro)
c.2099A>C (p.His700Pro)
c.2033A>C (p.His678Pro)
c.1991A>C (p.His664Pro)
c.1064A>C (p.His355Pro)
20g.63407215T=CA2374774492KCNQ2c.2102A= (p.His701=)
c.2048A= (p.His683=)
c.1445A= (p.His482=)
c.1955A= (p.His652=)
c.1616A= (p.His539=)
c.1964A= (p.His655=)
c.2072A= (p.His691=)
c.2036A= (p.His679=)
c.1994A= (p.His665=)
c.1679+6235A= (n.1679+6235A=)
c.2090A= (p.His697=)
c.2156A= (p.His719=)
c.2153A= (p.His718=)
c.2126A= (p.His709=)
c.2045A= (p.His682=)
c.2030A= (p.His677=)
c.1637A= (p.His546=)
c.2099A= (p.His700=)
c.2033A= (p.His678=)
c.1991A= (p.His664=)
c.1064A= (p.His355=)
20g.63407216G>ACA409639105KCNQ2c.2101C>T (p.His701Tyr)
c.2047C>T (p.His683Tyr)
c.1444C>T (p.His482Tyr)
c.1954C>T (p.His652Tyr)
c.1615C>T (p.His539Tyr)
c.1963C>T (p.His655Tyr)
c.2071C>T (p.His691Tyr)
c.2035C>T (p.His679Tyr)
c.1993C>T (p.His665Tyr)
c.1679+6234C>T (n.1679+6234C>T)
c.2089C>T (p.His697Tyr)
c.2155C>T (p.His719Tyr)
c.2152C>T (p.His718Tyr)
c.2125C>T (p.His709Tyr)
c.2044C>T (p.His682Tyr)
c.2029C>T (p.His677Tyr)
c.1636C>T (p.His546Tyr)
c.2098C>T (p.His700Tyr)
c.2032C>T (p.His678Tyr)
c.1990C>T (p.His664Tyr)
c.1063C>T (p.His355Tyr)
20g.63407216G>CCA409639106KCNQ2c.2101C>G (p.His701Asp)
c.2047C>G (p.His683Asp)
c.1444C>G (p.His482Asp)
c.1954C>G (p.His652Asp)
c.1615C>G (p.His539Asp)
c.1963C>G (p.His655Asp)
c.2071C>G (p.His691Asp)
c.2035C>G (p.His679Asp)
c.1993C>G (p.His665Asp)
c.1679+6234C>G (n.1679+6234C>G)
c.2089C>G (p.His697Asp)
c.2155C>G (p.His719Asp)
c.2152C>G (p.His718Asp)
c.2125C>G (p.His709Asp)
c.2044C>G (p.His682Asp)
c.2029C>G (p.His677Asp)
c.1636C>G (p.His546Asp)
c.2098C>G (p.His700Asp)
c.2032C>G (p.His678Asp)
c.1990C>G (p.His664Asp)
c.1063C>G (p.His355Asp)
20g.63407216G>TCA409639107KCNQ2c.2101C>A (p.His701Asn)
c.2047C>A (p.His683Asn)
c.1444C>A (p.His482Asn)
c.1954C>A (p.His652Asn)
c.1615C>A (p.His539Asn)
c.1963C>A (p.His655Asn)
c.2071C>A (p.His691Asn)
c.2035C>A (p.His679Asn)
c.1993C>A (p.His665Asn)
c.1679+6234C>A (n.1679+6234C>A)
c.2089C>A (p.His697Asn)
c.2155C>A (p.His719Asn)
c.2152C>A (p.His718Asn)
c.2125C>A (p.His709Asn)
c.2044C>A (p.His682Asn)
c.2029C>A (p.His677Asn)
c.1636C>A (p.His546Asn)
c.2098C>A (p.His700Asn)
c.2032C>A (p.His678Asn)
c.1990C>A (p.His664Asn)
c.1063C>A (p.His355Asn)
 gnomAD v4
20g.63407217C>ACA409639109KCNQ2c.2100G>T (p.Arg700Ser)
c.2046G>T (p.Arg682Ser)
c.1443G>T (p.Arg481Ser)
c.1953G>T (p.Arg651Ser)
c.1614G>T (p.Arg538Ser)
c.1962G>T (p.Arg654Ser)
c.2070G>T (p.Arg690Ser)
c.2034G>T (p.Arg678Ser)
c.1992G>T (p.Arg664Ser)
c.1679+6233G>T (n.1679+6233G>T)
c.2088G>T (p.Arg696Ser)
c.2154G>T (p.Arg718Ser)
c.2151G>T (p.Arg717Ser)
c.2124G>T (p.Arg708Ser)
c.2043G>T (p.Arg681Ser)
c.2028G>T (p.Arg676Ser)
c.1635G>T (p.Arg545Ser)
c.2097G>T (p.Arg699Ser)
c.2031G>T (p.Arg677Ser)
c.1989G>T (p.Arg663Ser)
c.1062G>T (p.Arg354Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.63407217C=CA2374774493KCNQ2c.2100G= (p.Arg700=)
c.2046G= (p.Arg682=)
c.1443G= (p.Arg481=)
c.1953G= (p.Arg651=)
c.1614G= (p.Arg538=)
c.1962G= (p.Arg654=)
c.2070G= (p.Arg690=)
c.2034G= (p.Arg678=)
c.1992G= (p.Arg664=)
c.1679+6233G= (n.1679+6233G=)
c.2088G= (p.Arg696=)
c.2154G= (p.Arg718=)
c.2151G= (p.Arg717=)
c.2124G= (p.Arg708=)
c.2043G= (p.Arg681=)
c.2028G= (p.Arg676=)
c.1635G= (p.Arg545=)
c.2097G= (p.Arg699=)
c.2031G= (p.Arg677=)
c.1989G= (p.Arg663=)
c.1062G= (p.Arg354=)
20g.63407217C>GCA409639108KCNQ2c.2100G>C (p.Arg700Ser)
c.2046G>C (p.Arg682Ser)
c.1443G>C (p.Arg481Ser)
c.1953G>C (p.Arg651Ser)
c.1614G>C (p.Arg538Ser)
c.1962G>C (p.Arg654Ser)
c.2070G>C (p.Arg690Ser)
c.2034G>C (p.Arg678Ser)
c.1992G>C (p.Arg664Ser)
c.1679+6233G>C (n.1679+6233G>C)
c.2088G>C (p.Arg696Ser)
c.2154G>C (p.Arg718Ser)
c.2151G>C (p.Arg717Ser)
c.2124G>C (p.Arg708Ser)
c.2043G>C (p.Arg681Ser)
c.2028G>C (p.Arg676Ser)
c.1635G>C (p.Arg545Ser)
c.2097G>C (p.Arg699Ser)
c.2031G>C (p.Arg677Ser)
c.1989G>C (p.Arg663Ser)
c.1062G>C (p.Arg354Ser)
20g.63407217C>TCA511339416KCNQ2c.2100G>A (p.Arg700=)
c.2046G>A (p.Arg682=)
c.1443G>A (p.Arg481=)
c.1953G>A (p.Arg651=)
c.1614G>A (p.Arg538=)
c.1962G>A (p.Arg654=)
c.2070G>A (p.Arg690=)
c.2034G>A (p.Arg678=)
c.1992G>A (p.Arg664=)
c.1679+6233G>A (n.1679+6233G>A)
c.2088G>A (p.Arg696=)
c.2154G>A (p.Arg718=)
c.2151G>A (p.Arg717=)
c.2124G>A (p.Arg708=)
c.2043G>A (p.Arg681=)
c.2028G>A (p.Arg676=)
c.1635G>A (p.Arg545=)
c.2097G>A (p.Arg699=)
c.2031G>A (p.Arg677=)
c.1989G>A (p.Arg663=)
c.1062G>A (p.Arg354=)
 gnomAD v4
20g.63407217_63407218insACA2739277257KCNQ2c.2099_2100insT (p.Arg700SerfsTer?)
c.2045_2046insT (p.Arg682SerfsTer?)
c.1442_1443insT (p.Arg481SerfsTer?)
c.1952_1953insT (p.Arg651SerfsTer?)
c.1613_1614insT (p.Arg538SerfsTer?)
c.1961_1962insT (p.Arg654SerfsTer?)
c.2069_2070insT (p.Arg690SerfsTer?)
c.2033_2034insT (p.Arg678SerfsTer?)
c.1991_1992insT (p.Arg664SerfsTer?)
c.1679+6232_1679+6233insT (n.1679+6232_1679+6233insT)
c.2087_2088insT (p.Arg696SerfsTer?)
c.2153_2154insT (p.Arg718SerfsTer?)
c.2150_2151insT (p.Arg717SerfsTer?)
c.2123_2124insT (p.Arg708SerfsTer?)
c.2042_2043insT (p.Arg681SerfsTer?)
c.2027_2028insT (p.Arg676SerfsTer?)
c.1634_1635insT (p.Arg545SerfsTer?)
c.2096_2097insT (p.Arg699SerfsTer?)
c.2030_2031insT (p.Arg677SerfsTer?)
c.1988_1989insT (p.Arg663SerfsTer?)
c.1061_1062insT (p.Arg354SerfsTer?)
 ClinVar
20g.63407218C>ACA409639110KCNQ2c.2099G>T (p.Arg700Met)
c.2045G>T (p.Arg682Met)
c.1442G>T (p.Arg481Met)
c.1952G>T (p.Arg651Met)
c.1613G>T (p.Arg538Met)
c.1961G>T (p.Arg654Met)
c.2069G>T (p.Arg690Met)
c.2033G>T (p.Arg678Met)
c.1991G>T (p.Arg664Met)
c.1679+6232G>T (n.1679+6232G>T)
c.2087G>T (p.Arg696Met)
c.2153G>T (p.Arg718Met)
c.2150G>T (p.Arg717Met)
c.2123G>T (p.Arg708Met)
c.2042G>T (p.Arg681Met)
c.2027G>T (p.Arg676Met)
c.1634G>T (p.Arg545Met)
c.2096G>T (p.Arg699Met)
c.2030G>T (p.Arg677Met)
c.1988G>T (p.Arg663Met)
c.1061G>T (p.Arg354Met)
 gnomAD v4
20g.63407218C=CA2374774494KCNQ2c.2099G= (p.Arg700=)
c.2045G= (p.Arg682=)
c.1442G= (p.Arg481=)
c.1952G= (p.Arg651=)
c.1613G= (p.Arg538=)
c.1961G= (p.Arg654=)
c.2069G= (p.Arg690=)
c.2033G= (p.Arg678=)
c.1991G= (p.Arg664=)
c.1679+6232G= (n.1679+6232G=)
c.2087G= (p.Arg696=)
c.2153G= (p.Arg718=)
c.2150G= (p.Arg717=)
c.2123G= (p.Arg708=)
c.2042G= (p.Arg681=)
c.2027G= (p.Arg676=)
c.1634G= (p.Arg545=)
c.2096G= (p.Arg699=)
c.2030G= (p.Arg677=)
c.1988G= (p.Arg663=)
c.1061G= (p.Arg354=)
20g.63407218C>GCA409639111KCNQ2c.2099G>C (p.Arg700Thr)
c.2045G>C (p.Arg682Thr)
c.1442G>C (p.Arg481Thr)
c.1952G>C (p.Arg651Thr)
c.1613G>C (p.Arg538Thr)
c.1961G>C (p.Arg654Thr)
c.2069G>C (p.Arg690Thr)
c.2033G>C (p.Arg678Thr)
c.1991G>C (p.Arg664Thr)
c.1679+6232G>C (n.1679+6232G>C)
c.2087G>C (p.Arg696Thr)
c.2153G>C (p.Arg718Thr)
c.2150G>C (p.Arg717Thr)
c.2123G>C (p.Arg708Thr)
c.2042G>C (p.Arg681Thr)
c.2027G>C (p.Arg676Thr)
c.1634G>C (p.Arg545Thr)
c.2096G>C (p.Arg699Thr)
c.2030G>C (p.Arg677Thr)
c.1988G>C (p.Arg663Thr)
c.1061G>C (p.Arg354Thr)
20g.63407218C>TCA409639112KCNQ2c.2099G>A (p.Arg700Lys)
c.2045G>A (p.Arg682Lys)
c.1442G>A (p.Arg481Lys)
c.1952G>A (p.Arg651Lys)
c.1613G>A (p.Arg538Lys)
c.1961G>A (p.Arg654Lys)
c.2069G>A (p.Arg690Lys)
c.2033G>A (p.Arg678Lys)
c.1991G>A (p.Arg664Lys)
c.1679+6232G>A (n.1679+6232G>A)
c.2087G>A (p.Arg696Lys)
c.2153G>A (p.Arg718Lys)
c.2150G>A (p.Arg717Lys)
c.2123G>A (p.Arg708Lys)
c.2042G>A (p.Arg681Lys)
c.2027G>A (p.Arg676Lys)
c.1634G>A (p.Arg545Lys)
c.2096G>A (p.Arg699Lys)
c.2030G>A (p.Arg677Lys)
c.1988G>A (p.Arg663Lys)
c.1061G>A (p.Arg354Lys)
 dbSNP gnomAD v4
20g.63407219T>ACA409639113KCNQ2c.2098A>T (p.Arg700Trp)
c.2044A>T (p.Arg682Trp)
c.1441A>T (p.Arg481Trp)
c.1951A>T (p.Arg651Trp)
c.1612A>T (p.Arg538Trp)
c.1960A>T (p.Arg654Trp)
c.2068A>T (p.Arg690Trp)
c.2032A>T (p.Arg678Trp)
c.1990A>T (p.Arg664Trp)
c.1679+6231A>T (n.1679+6231A>T)
c.2086A>T (p.Arg696Trp)
c.2152A>T (p.Arg718Trp)
c.2149A>T (p.Arg717Trp)
c.2122A>T (p.Arg708Trp)
c.2041A>T (p.Arg681Trp)
c.2026A>T (p.Arg676Trp)
c.1633A>T (p.Arg545Trp)
c.2095A>T (p.Arg699Trp)
c.2029A>T (p.Arg677Trp)
c.1987A>T (p.Arg663Trp)
c.1060A>T (p.Arg354Trp)
20g.63407219T>CCA409639114KCNQ2c.2098A>G (p.Arg700Gly)
c.2044A>G (p.Arg682Gly)
c.1441A>G (p.Arg481Gly)
c.1951A>G (p.Arg651Gly)
c.1612A>G (p.Arg538Gly)
c.1960A>G (p.Arg654Gly)
c.2068A>G (p.Arg690Gly)
c.2032A>G (p.Arg678Gly)
c.1990A>G (p.Arg664Gly)
c.1679+6231A>G (n.1679+6231A>G)
c.2086A>G (p.Arg696Gly)
c.2152A>G (p.Arg718Gly)
c.2149A>G (p.Arg717Gly)
c.2122A>G (p.Arg708Gly)
c.2041A>G (p.Arg681Gly)
c.2026A>G (p.Arg676Gly)
c.1633A>G (p.Arg545Gly)
c.2095A>G (p.Arg699Gly)
c.2029A>G (p.Arg677Gly)
c.1987A>G (p.Arg663Gly)
c.1060A>G (p.Arg354Gly)
 gnomAD v4
20g.63407219T>GCA511339418KCNQ2c.2098A>C (p.Arg700=)
c.2044A>C (p.Arg682=)
c.1441A>C (p.Arg481=)
c.1951A>C (p.Arg651=)
c.1612A>C (p.Arg538=)
c.1960A>C (p.Arg654=)
c.2068A>C (p.Arg690=)
c.2032A>C (p.Arg678=)
c.1990A>C (p.Arg664=)
c.1679+6231A>C (n.1679+6231A>C)
c.2086A>C (p.Arg696=)
c.2152A>C (p.Arg718=)
c.2149A>C (p.Arg717=)
c.2122A>C (p.Arg708=)
c.2041A>C (p.Arg681=)
c.2026A>C (p.Arg676=)
c.1633A>C (p.Arg545=)
c.2095A>C (p.Arg699=)
c.2029A>C (p.Arg677=)
c.1987A>C (p.Arg663=)
c.1060A>C (p.Arg354=)
20g.63407220G>ACA511339419KCNQ2c.2097C>T (p.Asp699=)
c.2043C>T (p.Asp681=)
c.1440C>T (p.Asp480=)
c.1950C>T (p.Asp650=)
c.1611C>T (p.Asp537=)
c.1959C>T (p.Asp653=)
c.2067C>T (p.Asp689=)
c.2031C>T (p.Asp677=)
c.1989C>T (p.Asp663=)
c.1679+6230C>T (n.1679+6230C>T)
c.2085C>T (p.Asp695=)
c.2151C>T (p.Asp717=)
c.2148C>T (p.Asp716=)
c.2121C>T (p.Asp707=)
c.2040C>T (p.Asp680=)
c.2025C>T (p.Asp675=)
c.1632C>T (p.Asp544=)
c.2094C>T (p.Asp698=)
c.2028C>T (p.Asp676=)
c.1986C>T (p.Asp662=)
c.1059C>T (p.Asp353=)
 gnomAD v4
20g.63407220G>CCA409639115KCNQ2c.2097C>G (p.Asp699Glu)
c.2043C>G (p.Asp681Glu)
c.1440C>G (p.Asp480Glu)
c.1950C>G (p.Asp650Glu)
c.1611C>G (p.Asp537Glu)
c.1959C>G (p.Asp653Glu)
c.2067C>G (p.Asp689Glu)
c.2031C>G (p.Asp677Glu)
c.1989C>G (p.Asp663Glu)
c.1679+6230C>G (n.1679+6230C>G)
c.2085C>G (p.Asp695Glu)
c.2151C>G (p.Asp717Glu)
c.2148C>G (p.Asp716Glu)
c.2121C>G (p.Asp707Glu)
c.2040C>G (p.Asp680Glu)
c.2025C>G (p.Asp675Glu)
c.1632C>G (p.Asp544Glu)
c.2094C>G (p.Asp698Glu)
c.2028C>G (p.Asp676Glu)
c.1986C>G (p.Asp662Glu)
c.1059C>G (p.Asp353Glu)
20g.63407220G>TCA409639116KCNQ2c.2097C>A (p.Asp699Glu)
c.2043C>A (p.Asp681Glu)
c.1440C>A (p.Asp480Glu)
c.1950C>A (p.Asp650Glu)
c.1611C>A (p.Asp537Glu)
c.1959C>A (p.Asp653Glu)
c.2067C>A (p.Asp689Glu)
c.2031C>A (p.Asp677Glu)
c.1989C>A (p.Asp663Glu)
c.1679+6230C>A (n.1679+6230C>A)
c.2085C>A (p.Asp695Glu)
c.2151C>A (p.Asp717Glu)
c.2148C>A (p.Asp716Glu)
c.2121C>A (p.Asp707Glu)
c.2040C>A (p.Asp680Glu)
c.2025C>A (p.Asp675Glu)
c.1632C>A (p.Asp544Glu)
c.2094C>A (p.Asp698Glu)
c.2028C>A (p.Asp676Glu)
c.1986C>A (p.Asp662Glu)
c.1059C>A (p.Asp353Glu)
 gnomAD v4
20g.63407221T>ACA409639117KCNQ2c.2096A>T (p.Asp699Val)
c.2042A>T (p.Asp681Val)
c.1439A>T (p.Asp480Val)
c.1949A>T (p.Asp650Val)
c.1610A>T (p.Asp537Val)
c.1958A>T (p.Asp653Val)
c.2066A>T (p.Asp689Val)
c.2030A>T (p.Asp677Val)
c.1988A>T (p.Asp663Val)
c.1679+6229A>T (n.1679+6229A>T)
c.2084A>T (p.Asp695Val)
c.2150A>T (p.Asp717Val)
c.2147A>T (p.Asp716Val)
c.2120A>T (p.Asp707Val)
c.2039A>T (p.Asp680Val)
c.2024A>T (p.Asp675Val)
c.1631A>T (p.Asp544Val)
c.2093A>T (p.Asp698Val)
c.2027A>T (p.Asp676Val)
c.1985A>T (p.Asp662Val)
c.1058A>T (p.Asp353Val)
20g.63407221T>CCA409639118KCNQ2c.2096A>G (p.Asp699Gly)
c.2042A>G (p.Asp681Gly)
c.1439A>G (p.Asp480Gly)
c.1949A>G (p.Asp650Gly)
c.1610A>G (p.Asp537Gly)
c.1958A>G (p.Asp653Gly)
c.2066A>G (p.Asp689Gly)
c.2030A>G (p.Asp677Gly)
c.1988A>G (p.Asp663Gly)
c.1679+6229A>G (n.1679+6229A>G)
c.2084A>G (p.Asp695Gly)
c.2150A>G (p.Asp717Gly)
c.2147A>G (p.Asp716Gly)
c.2120A>G (p.Asp707Gly)
c.2039A>G (p.Asp680Gly)
c.2024A>G (p.Asp675Gly)
c.1631A>G (p.Asp544Gly)
c.2093A>G (p.Asp698Gly)
c.2027A>G (p.Asp676Gly)
c.1985A>G (p.Asp662Gly)
c.1058A>G (p.Asp353Gly)
 gnomAD v4
20g.63407221T>GCA409639119KCNQ2c.2096A>C (p.Asp699Ala)
c.2042A>C (p.Asp681Ala)
c.1439A>C (p.Asp480Ala)
c.1949A>C (p.Asp650Ala)
c.1610A>C (p.Asp537Ala)
c.1958A>C (p.Asp653Ala)
c.2066A>C (p.Asp689Ala)
c.2030A>C (p.Asp677Ala)
c.1988A>C (p.Asp663Ala)
c.1679+6229A>C (n.1679+6229A>C)
c.2084A>C (p.Asp695Ala)
c.2150A>C (p.Asp717Ala)
c.2147A>C (p.Asp716Ala)
c.2120A>C (p.Asp707Ala)
c.2039A>C (p.Asp680Ala)
c.2024A>C (p.Asp675Ala)
c.1631A>C (p.Asp544Ala)
c.2093A>C (p.Asp698Ala)
c.2027A>C (p.Asp676Ala)
c.1985A>C (p.Asp662Ala)
c.1058A>C (p.Asp353Ala)
20g.63407222C>ACA409639120KCNQ2c.2095G>T (p.Asp699Tyr)
c.2041G>T (p.Asp681Tyr)
c.1438G>T (p.Asp480Tyr)
c.1948G>T (p.Asp650Tyr)
c.1609G>T (p.Asp537Tyr)
c.1957G>T (p.Asp653Tyr)
c.2065G>T (p.Asp689Tyr)
c.2029G>T (p.Asp677Tyr)
c.1987G>T (p.Asp663Tyr)
c.1679+6228G>T (n.1679+6228G>T)
c.2083G>T (p.Asp695Tyr)
c.2149G>T (p.Asp717Tyr)
c.2146G>T (p.Asp716Tyr)
c.2119G>T (p.Asp707Tyr)
c.2038G>T (p.Asp680Tyr)
c.2023G>T (p.Asp675Tyr)
c.1630G>T (p.Asp544Tyr)
c.2092G>T (p.Asp698Tyr)
c.2026G>T (p.Asp676Tyr)
c.1984G>T (p.Asp662Tyr)
c.1057G>T (p.Asp353Tyr)
20g.63407222C=CA2374774495KCNQ2c.2095G= (p.Asp699=)
c.2041G= (p.Asp681=)
c.1438G= (p.Asp480=)
c.1948G= (p.Asp650=)
c.1609G= (p.Asp537=)
c.1957G= (p.Asp653=)
c.2065G= (p.Asp689=)
c.2029G= (p.Asp677=)
c.1987G= (p.Asp663=)
c.1679+6228G= (n.1679+6228G=)
c.2083G= (p.Asp695=)
c.2149G= (p.Asp717=)
c.2146G= (p.Asp716=)
c.2119G= (p.Asp707=)
c.2038G= (p.Asp680=)
c.2023G= (p.Asp675=)
c.1630G= (p.Asp544=)
c.2092G= (p.Asp698=)
c.2026G= (p.Asp676=)
c.1984G= (p.Asp662=)
c.1057G= (p.Asp353=)
20g.63407222C>GCA409639121KCNQ2c.2095G>C (p.Asp699His)
c.2041G>C (p.Asp681His)
c.1438G>C (p.Asp480His)
c.1948G>C (p.Asp650His)
c.1609G>C (p.Asp537His)
c.1957G>C (p.Asp653His)
c.2065G>C (p.Asp689His)
c.2029G>C (p.Asp677His)
c.1987G>C (p.Asp663His)
c.1679+6228G>C (n.1679+6228G>C)
c.2083G>C (p.Asp695His)
c.2149G>C (p.Asp717His)
c.2146G>C (p.Asp716His)
c.2119G>C (p.Asp707His)
c.2038G>C (p.Asp680His)
c.2023G>C (p.Asp675His)
c.1630G>C (p.Asp544His)
c.2092G>C (p.Asp698His)
c.2026G>C (p.Asp676His)
c.1984G>C (p.Asp662His)
c.1057G>C (p.Asp353His)
 gnomAD v4
20g.63407222C>TCA409639122KCNQ2c.2095G>A (p.Asp699Asn)
c.2041G>A (p.Asp681Asn)
c.1438G>A (p.Asp480Asn)
c.1948G>A (p.Asp650Asn)
c.1609G>A (p.Asp537Asn)
c.1957G>A (p.Asp653Asn)
c.2065G>A (p.Asp689Asn)
c.2029G>A (p.Asp677Asn)
c.1987G>A (p.Asp663Asn)
c.1679+6228G>A (n.1679+6228G>A)
c.2083G>A (p.Asp695Asn)
c.2149G>A (p.Asp717Asn)
c.2146G>A (p.Asp716Asn)
c.2119G>A (p.Asp707Asn)
c.2038G>A (p.Asp680Asn)
c.2023G>A (p.Asp675Asn)
c.1630G>A (p.Asp544Asn)
c.2092G>A (p.Asp698Asn)
c.2026G>A (p.Asp676Asn)
c.1984G>A (p.Asp662Asn)
c.1057G>A (p.Asp353Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407223G>ACA9958163KCNQ2c.2094C>T (p.Val698=)
c.2040C>T (p.Val680=)
c.1437C>T (p.Val479=)
c.1947C>T (p.Val649=)
c.1608C>T (p.Val536=)
c.1956C>T (p.Val652=)
c.2064C>T (p.Val688=)
c.2028C>T (p.Val676=)
c.1986C>T (p.Val662=)
c.1679+6227C>T (n.1679+6227C>T)
c.2082C>T (p.Val694=)
c.2148C>T (p.Val716=)
c.2145C>T (p.Val715=)
c.2118C>T (p.Val706=)
c.2037C>T (p.Val679=)
c.2022C>T (p.Val674=)
c.1629C>T (p.Val543=)
c.2091C>T (p.Val697=)
c.2025C>T (p.Val675=)
c.1983C>T (p.Val661=)
c.1056C>T (p.Val352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407223G>CCA9958164KCNQ2c.2094C>G (p.Val698=)
c.2040C>G (p.Val680=)
c.1437C>G (p.Val479=)
c.1947C>G (p.Val649=)
c.1608C>G (p.Val536=)
c.1956C>G (p.Val652=)
c.2064C>G (p.Val688=)
c.2028C>G (p.Val676=)
c.1986C>G (p.Val662=)
c.1679+6227C>G (n.1679+6227C>G)
c.2082C>G (p.Val694=)
c.2148C>G (p.Val716=)
c.2145C>G (p.Val715=)
c.2118C>G (p.Val706=)
c.2037C>G (p.Val679=)
c.2022C>G (p.Val674=)
c.1629C>G (p.Val543=)
c.2091C>G (p.Val697=)
c.2025C>G (p.Val675=)
c.1983C>G (p.Val661=)
c.1056C>G (p.Val352=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407223G=CA2374774496KCNQ2c.2094C= (p.Val698=)
c.2040C= (p.Val680=)
c.1437C= (p.Val479=)
c.1947C= (p.Val649=)
c.1608C= (p.Val536=)
c.1956C= (p.Val652=)
c.2064C= (p.Val688=)
c.2028C= (p.Val676=)
c.1986C= (p.Val662=)
c.1679+6227C= (n.1679+6227C=)
c.2082C= (p.Val694=)
c.2148C= (p.Val716=)
c.2145C= (p.Val715=)
c.2118C= (p.Val706=)
c.2037C= (p.Val679=)
c.2022C= (p.Val674=)
c.1629C= (p.Val543=)
c.2091C= (p.Val697=)
c.2025C= (p.Val675=)
c.1983C= (p.Val661=)
c.1056C= (p.Val352=)
20g.63407223G>TCA511339423KCNQ2c.2094C>A (p.Val698=)
c.2040C>A (p.Val680=)
c.1437C>A (p.Val479=)
c.1947C>A (p.Val649=)
c.1608C>A (p.Val536=)
c.1956C>A (p.Val652=)
c.2064C>A (p.Val688=)
c.2028C>A (p.Val676=)
c.1986C>A (p.Val662=)
c.1679+6227C>A (n.1679+6227C>A)
c.2082C>A (p.Val694=)
c.2148C>A (p.Val716=)
c.2145C>A (p.Val715=)
c.2118C>A (p.Val706=)
c.2037C>A (p.Val679=)
c.2022C>A (p.Val674=)
c.1629C>A (p.Val543=)
c.2091C>A (p.Val697=)
c.2025C>A (p.Val675=)
c.1983C>A (p.Val661=)
c.1056C>A (p.Val352=)
 gnomAD v4
20g.63407224A>CCA409639123KCNQ2c.2093T>G (p.Val698Gly)
c.2039T>G (p.Val680Gly)
c.1436T>G (p.Val479Gly)
c.1946T>G (p.Val649Gly)
c.1607T>G (p.Val536Gly)
c.1955T>G (p.Val652Gly)
c.2063T>G (p.Val688Gly)
c.2027T>G (p.Val676Gly)
c.1985T>G (p.Val662Gly)
c.1679+6226T>G (n.1679+6226T>G)
c.2081T>G (p.Val694Gly)
c.2147T>G (p.Val716Gly)
c.2144T>G (p.Val715Gly)
c.2117T>G (p.Val706Gly)
c.2036T>G (p.Val679Gly)
c.2021T>G (p.Val674Gly)
c.1628T>G (p.Val543Gly)
c.2090T>G (p.Val697Gly)
c.2024T>G (p.Val675Gly)
c.1982T>G (p.Val661Gly)
c.1055T>G (p.Val352Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.63407224A>GCA409639124KCNQ2c.2093T>C (p.Val698Ala)
c.2039T>C (p.Val680Ala)
c.1436T>C (p.Val479Ala)
c.1946T>C (p.Val649Ala)
c.1607T>C (p.Val536Ala)
c.1955T>C (p.Val652Ala)
c.2063T>C (p.Val688Ala)
c.2027T>C (p.Val676Ala)
c.1985T>C (p.Val662Ala)
c.1679+6226T>C (n.1679+6226T>C)
c.2081T>C (p.Val694Ala)
c.2147T>C (p.Val716Ala)
c.2144T>C (p.Val715Ala)
c.2117T>C (p.Val706Ala)
c.2036T>C (p.Val679Ala)
c.2021T>C (p.Val674Ala)
c.1628T>C (p.Val543Ala)
c.2090T>C (p.Val697Ala)
c.2024T>C (p.Val675Ala)
c.1982T>C (p.Val661Ala)
c.1055T>C (p.Val352Ala)
20g.63407224A>TCA409639125KCNQ2c.2093T>A (p.Val698Asp)
c.2039T>A (p.Val680Asp)
c.1436T>A (p.Val479Asp)
c.1946T>A (p.Val649Asp)
c.1607T>A (p.Val536Asp)
c.1955T>A (p.Val652Asp)
c.2063T>A (p.Val688Asp)
c.2027T>A (p.Val676Asp)
c.1985T>A (p.Val662Asp)
c.1679+6226T>A (n.1679+6226T>A)
c.2081T>A (p.Val694Asp)
c.2147T>A (p.Val716Asp)
c.2144T>A (p.Val715Asp)
c.2117T>A (p.Val706Asp)
c.2036T>A (p.Val679Asp)
c.2021T>A (p.Val674Asp)
c.1628T>A (p.Val543Asp)
c.2090T>A (p.Val697Asp)
c.2024T>A (p.Val675Asp)
c.1982T>A (p.Val661Asp)
c.1055T>A (p.Val352Asp)
20g.63407225C>ACA409639126KCNQ2c.2092G>T (p.Val698Phe)
c.2038G>T (p.Val680Phe)
c.1435G>T (p.Val479Phe)
c.1945G>T (p.Val649Phe)
c.1606G>T (p.Val536Phe)
c.1954G>T (p.Val652Phe)
c.2062G>T (p.Val688Phe)
c.2026G>T (p.Val676Phe)
c.1984G>T (p.Val662Phe)
c.1679+6225G>T (n.1679+6225G>T)
c.2080G>T (p.Val694Phe)
c.2146G>T (p.Val716Phe)
c.2143G>T (p.Val715Phe)
c.2116G>T (p.Val706Phe)
c.2035G>T (p.Val679Phe)
c.2020G>T (p.Val674Phe)
c.1627G>T (p.Val543Phe)
c.2089G>T (p.Val697Phe)
c.2023G>T (p.Val675Phe)
c.1981G>T (p.Val661Phe)
c.1054G>T (p.Val352Phe)
20g.63407225C>GCA409639127KCNQ2c.2092G>C (p.Val698Leu)
c.2038G>C (p.Val680Leu)
c.1435G>C (p.Val479Leu)
c.1945G>C (p.Val649Leu)
c.1606G>C (p.Val536Leu)
c.1954G>C (p.Val652Leu)
c.2062G>C (p.Val688Leu)
c.2026G>C (p.Val676Leu)
c.1984G>C (p.Val662Leu)
c.1679+6225G>C (n.1679+6225G>C)
c.2080G>C (p.Val694Leu)
c.2146G>C (p.Val716Leu)
c.2143G>C (p.Val715Leu)
c.2116G>C (p.Val706Leu)
c.2035G>C (p.Val679Leu)
c.2020G>C (p.Val674Leu)
c.1627G>C (p.Val543Leu)
c.2089G>C (p.Val697Leu)
c.2023G>C (p.Val675Leu)
c.1981G>C (p.Val661Leu)
c.1054G>C (p.Val352Leu)
20g.63407225C>TCA409639128KCNQ2c.2092G>A (p.Val698Ile)
c.2038G>A (p.Val680Ile)
c.1435G>A (p.Val479Ile)
c.1945G>A (p.Val649Ile)
c.1606G>A (p.Val536Ile)
c.1954G>A (p.Val652Ile)
c.2062G>A (p.Val688Ile)
c.2026G>A (p.Val676Ile)
c.1984G>A (p.Val662Ile)
c.1679+6225G>A (n.1679+6225G>A)
c.2080G>A (p.Val694Ile)
c.2146G>A (p.Val716Ile)
c.2143G>A (p.Val715Ile)
c.2116G>A (p.Val706Ile)
c.2035G>A (p.Val679Ile)
c.2020G>A (p.Val674Ile)
c.1627G>A (p.Val543Ile)
c.2089G>A (p.Val697Ile)
c.2023G>A (p.Val675Ile)
c.1981G>A (p.Val661Ile)
c.1054G>A (p.Val352Ile)
 gnomAD v4
20g.63407226A=CA2374774497KCNQ2c.2091T= (p.His697=)
c.2037T= (p.His679=)
c.1434T= (p.His478=)
c.1944T= (p.His648=)
c.1605T= (p.His535=)
c.1953T= (p.His651=)
c.2061T= (p.His687=)
c.2025T= (p.His675=)
c.1983T= (p.His661=)
c.1679+6224T= (n.1679+6224T=)
c.2079T= (p.His693=)
c.2145T= (p.His715=)
c.2142T= (p.His714=)
c.2115T= (p.His705=)
c.2034T= (p.His678=)
c.2019T= (p.His673=)
c.1626T= (p.His542=)
c.2088T= (p.His696=)
c.2022T= (p.His674=)
c.1980T= (p.His660=)
c.1053T= (p.His351=)
20g.63407226A>CCA409639129KCNQ2c.2091T>G (p.His697Gln)
c.2037T>G (p.His679Gln)
c.1434T>G (p.His478Gln)
c.1944T>G (p.His648Gln)
c.1605T>G (p.His535Gln)
c.1953T>G (p.His651Gln)
c.2061T>G (p.His687Gln)
c.2025T>G (p.His675Gln)
c.1983T>G (p.His661Gln)
c.1679+6224T>G (n.1679+6224T>G)
c.2079T>G (p.His693Gln)
c.2145T>G (p.His715Gln)
c.2142T>G (p.His714Gln)
c.2115T>G (p.His705Gln)
c.2034T>G (p.His678Gln)
c.2019T>G (p.His673Gln)
c.1626T>G (p.His542Gln)
c.2088T>G (p.His696Gln)
c.2022T>G (p.His674Gln)
c.1980T>G (p.His660Gln)
c.1053T>G (p.His351Gln)
 ClinVar
20g.63407226A>GCA511339427KCNQ2c.2091T>C (p.His697=)
c.2037T>C (p.His679=)
c.1434T>C (p.His478=)
c.1944T>C (p.His648=)
c.1605T>C (p.His535=)
c.1953T>C (p.His651=)
c.2061T>C (p.His687=)
c.2025T>C (p.His675=)
c.1983T>C (p.His661=)
c.1679+6224T>C (n.1679+6224T>C)
c.2079T>C (p.His693=)
c.2145T>C (p.His715=)
c.2142T>C (p.His714=)
c.2115T>C (p.His705=)
c.2034T>C (p.His678=)
c.2019T>C (p.His673=)
c.1626T>C (p.His542=)
c.2088T>C (p.His696=)
c.2022T>C (p.His674=)
c.1980T>C (p.His660=)
c.1053T>C (p.His351=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407226A>TCA409639130KCNQ2c.2091T>A (p.His697Gln)
c.2037T>A (p.His679Gln)
c.1434T>A (p.His478Gln)
c.1944T>A (p.His648Gln)
c.1605T>A (p.His535Gln)
c.1953T>A (p.His651Gln)
c.2061T>A (p.His687Gln)
c.2025T>A (p.His675Gln)
c.1983T>A (p.His661Gln)
c.1679+6224T>A (n.1679+6224T>A)
c.2079T>A (p.His693Gln)
c.2145T>A (p.His715Gln)
c.2142T>A (p.His714Gln)
c.2115T>A (p.His705Gln)
c.2034T>A (p.His678Gln)
c.2019T>A (p.His673Gln)
c.1626T>A (p.His542Gln)
c.2088T>A (p.His696Gln)
c.2022T>A (p.His674Gln)
c.1980T>A (p.His660Gln)
c.1053T>A (p.His351Gln)
20g.63407227T>ACA409639131KCNQ2c.2090A>T (p.His697Leu)
c.2036A>T (p.His679Leu)
c.1433A>T (p.His478Leu)
c.1943A>T (p.His648Leu)
c.1604A>T (p.His535Leu)
c.1952A>T (p.His651Leu)
c.2060A>T (p.His687Leu)
c.2024A>T (p.His675Leu)
c.1982A>T (p.His661Leu)
c.1679+6223A>T (n.1679+6223A>T)
c.2078A>T (p.His693Leu)
c.2144A>T (p.His715Leu)
c.2141A>T (p.His714Leu)
c.2114A>T (p.His705Leu)
c.2033A>T (p.His678Leu)
c.2018A>T (p.His673Leu)
c.1625A>T (p.His542Leu)
c.2087A>T (p.His696Leu)
c.2021A>T (p.His674Leu)
c.1979A>T (p.His660Leu)
c.1052A>T (p.His351Leu)
20g.63407227T>CCA9958165KCNQ2c.2090A>G (p.His697Arg)
c.2036A>G (p.His679Arg)
c.1433A>G (p.His478Arg)
c.1943A>G (p.His648Arg)
c.1604A>G (p.His535Arg)
c.1952A>G (p.His651Arg)
c.2060A>G (p.His687Arg)
c.2024A>G (p.His675Arg)
c.1982A>G (p.His661Arg)
c.1679+6223A>G (n.1679+6223A>G)
c.2078A>G (p.His693Arg)
c.2144A>G (p.His715Arg)
c.2141A>G (p.His714Arg)
c.2114A>G (p.His705Arg)
c.2033A>G (p.His678Arg)
c.2018A>G (p.His673Arg)
c.1625A>G (p.His542Arg)
c.2087A>G (p.His696Arg)
c.2021A>G (p.His674Arg)
c.1979A>G (p.His660Arg)
c.1052A>G (p.His351Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407227T>GCA409639132KCNQ2c.2090A>C (p.His697Pro)
c.2036A>C (p.His679Pro)
c.1433A>C (p.His478Pro)
c.1943A>C (p.His648Pro)
c.1604A>C (p.His535Pro)
c.1952A>C (p.His651Pro)
c.2060A>C (p.His687Pro)
c.2024A>C (p.His675Pro)
c.1982A>C (p.His661Pro)
c.1679+6223A>C (n.1679+6223A>C)
c.2078A>C (p.His693Pro)
c.2144A>C (p.His715Pro)
c.2141A>C (p.His714Pro)
c.2114A>C (p.His705Pro)
c.2033A>C (p.His678Pro)
c.2018A>C (p.His673Pro)
c.1625A>C (p.His542Pro)
c.2087A>C (p.His696Pro)
c.2021A>C (p.His674Pro)
c.1979A>C (p.His660Pro)
c.1052A>C (p.His351Pro)
20g.63407227T=CA2374774498KCNQ2c.2090A= (p.His697=)
c.2036A= (p.His679=)
c.1433A= (p.His478=)
c.1943A= (p.His648=)
c.1604A= (p.His535=)
c.1952A= (p.His651=)
c.2060A= (p.His687=)
c.2024A= (p.His675=)
c.1982A= (p.His661=)
c.1679+6223A= (n.1679+6223A=)
c.2078A= (p.His693=)
c.2144A= (p.His715=)
c.2141A= (p.His714=)
c.2114A= (p.His705=)
c.2033A= (p.His678=)
c.2018A= (p.His673=)
c.1625A= (p.His542=)
c.2087A= (p.His696=)
c.2021A= (p.His674=)
c.1979A= (p.His660=)
c.1052A= (p.His351=)
20g.63407228G>ACA409639133KCNQ2c.2089C>T (p.His697Tyr)
c.2035C>T (p.His679Tyr)
c.1432C>T (p.His478Tyr)
c.1942C>T (p.His648Tyr)
c.1603C>T (p.His535Tyr)
c.1951C>T (p.His651Tyr)
c.2059C>T (p.His687Tyr)
c.2023C>T (p.His675Tyr)
c.1981C>T (p.His661Tyr)
c.1679+6222C>T (n.1679+6222C>T)
c.2077C>T (p.His693Tyr)
c.2143C>T (p.His715Tyr)
c.2140C>T (p.His714Tyr)
c.2113C>T (p.His705Tyr)
c.2032C>T (p.His678Tyr)
c.2017C>T (p.His673Tyr)
c.1624C>T (p.His542Tyr)
c.2086C>T (p.His696Tyr)
c.2020C>T (p.His674Tyr)
c.1978C>T (p.His660Tyr)
c.1051C>T (p.His351Tyr)
 COSMIC COSMIC COSMIC
20g.63407228G>CCA409639134KCNQ2c.2089C>G (p.His697Asp)
c.2035C>G (p.His679Asp)
c.1432C>G (p.His478Asp)
c.1942C>G (p.His648Asp)
c.1603C>G (p.His535Asp)
c.1951C>G (p.His651Asp)
c.2059C>G (p.His687Asp)
c.2023C>G (p.His675Asp)
c.1981C>G (p.His661Asp)
c.1679+6222C>G (n.1679+6222C>G)
c.2077C>G (p.His693Asp)
c.2143C>G (p.His715Asp)
c.2140C>G (p.His714Asp)
c.2113C>G (p.His705Asp)
c.2032C>G (p.His678Asp)
c.2017C>G (p.His673Asp)
c.1624C>G (p.His542Asp)
c.2086C>G (p.His696Asp)
c.2020C>G (p.His674Asp)
c.1978C>G (p.His660Asp)
c.1051C>G (p.His351Asp)
20g.63407228G>TCA409639135KCNQ2c.2089C>A (p.His697Asn)
c.2035C>A (p.His679Asn)
c.1432C>A (p.His478Asn)
c.1942C>A (p.His648Asn)
c.1603C>A (p.His535Asn)
c.1951C>A (p.His651Asn)
c.2059C>A (p.His687Asn)
c.2023C>A (p.His675Asn)
c.1981C>A (p.His661Asn)
c.1679+6222C>A (n.1679+6222C>A)
c.2077C>A (p.His693Asn)
c.2143C>A (p.His715Asn)
c.2140C>A (p.His714Asn)
c.2113C>A (p.His705Asn)
c.2032C>A (p.His678Asn)
c.2017C>A (p.His673Asn)
c.1624C>A (p.His542Asn)
c.2086C>A (p.His696Asn)
c.2020C>A (p.His674Asn)
c.1978C>A (p.His660Asn)
c.1051C>A (p.His351Asn)
 gnomAD v4
20g.63407229C>ACA409639136KCNQ2c.2088G>T (p.Glu696Asp)
c.2034G>T (p.Glu678Asp)
c.1431G>T (p.Glu477Asp)
c.1941G>T (p.Glu647Asp)
c.1602G>T (p.Glu534Asp)
c.1950G>T (p.Glu650Asp)
c.2058G>T (p.Glu686Asp)
c.2022G>T (p.Glu674Asp)
c.1980G>T (p.Glu660Asp)
c.1679+6221G>T (n.1679+6221G>T)
c.2076G>T (p.Glu692Asp)
c.2142G>T (p.Glu714Asp)
c.2139G>T (p.Glu713Asp)
c.2112G>T (p.Glu704Asp)
c.2031G>T (p.Glu677Asp)
c.2016G>T (p.Glu672Asp)
c.1623G>T (p.Glu541Asp)
c.2085G>T (p.Glu695Asp)
c.2019G>T (p.Glu673Asp)
c.1977G>T (p.Glu659Asp)
c.1050G>T (p.Glu350Asp)
 gnomAD v4
20g.63407229C>GCA409639137KCNQ2c.2088G>C (p.Glu696Asp)
c.2034G>C (p.Glu678Asp)
c.1431G>C (p.Glu477Asp)
c.1941G>C (p.Glu647Asp)
c.1602G>C (p.Glu534Asp)
c.1950G>C (p.Glu650Asp)
c.2058G>C (p.Glu686Asp)
c.2022G>C (p.Glu674Asp)
c.1980G>C (p.Glu660Asp)
c.1679+6221G>C (n.1679+6221G>C)
c.2076G>C (p.Glu692Asp)
c.2142G>C (p.Glu714Asp)
c.2139G>C (p.Glu713Asp)
c.2112G>C (p.Glu704Asp)
c.2031G>C (p.Glu677Asp)
c.2016G>C (p.Glu672Asp)
c.1623G>C (p.Glu541Asp)
c.2085G>C (p.Glu695Asp)
c.2019G>C (p.Glu673Asp)
c.1977G>C (p.Glu659Asp)
c.1050G>C (p.Glu350Asp)
20g.63407229C>TCA511339429KCNQ2c.2088G>A (p.Glu696=)
c.2034G>A (p.Glu678=)
c.1431G>A (p.Glu477=)
c.1941G>A (p.Glu647=)
c.1602G>A (p.Glu534=)
c.1950G>A (p.Glu650=)
c.2058G>A (p.Glu686=)
c.2022G>A (p.Glu674=)
c.1980G>A (p.Glu660=)
c.1679+6221G>A (n.1679+6221G>A)
c.2076G>A (p.Glu692=)
c.2142G>A (p.Glu714=)
c.2139G>A (p.Glu713=)
c.2112G>A (p.Glu704=)
c.2031G>A (p.Glu677=)
c.2016G>A (p.Glu672=)
c.1623G>A (p.Glu541=)
c.2085G>A (p.Glu695=)
c.2019G>A (p.Glu673=)
c.1977G>A (p.Glu659=)
c.1050G>A (p.Glu350=)
 gnomAD v4
20g.63407230T>ACA409639138KCNQ2c.2087A>T (p.Glu696Val)
c.2033A>T (p.Glu678Val)
c.1430A>T (p.Glu477Val)
c.1940A>T (p.Glu647Val)
c.1601A>T (p.Glu534Val)
c.1949A>T (p.Glu650Val)
c.2057A>T (p.Glu686Val)
c.2021A>T (p.Glu674Val)
c.1979A>T (p.Glu660Val)
c.1679+6220A>T (n.1679+6220A>T)
c.2075A>T (p.Glu692Val)
c.2141A>T (p.Glu714Val)
c.2138A>T (p.Glu713Val)
c.2111A>T (p.Glu704Val)
c.2030A>T (p.Glu677Val)
c.2015A>T (p.Glu672Val)
c.1622A>T (p.Glu541Val)
c.2084A>T (p.Glu695Val)
c.2018A>T (p.Glu673Val)
c.1976A>T (p.Glu659Val)
c.1049A>T (p.Glu350Val)
20g.63407230T>CCA409639139KCNQ2c.2087A>G (p.Glu696Gly)
c.2033A>G (p.Glu678Gly)
c.1430A>G (p.Glu477Gly)
c.1940A>G (p.Glu647Gly)
c.1601A>G (p.Glu534Gly)
c.1949A>G (p.Glu650Gly)
c.2057A>G (p.Glu686Gly)
c.2021A>G (p.Glu674Gly)
c.1979A>G (p.Glu660Gly)
c.1679+6220A>G (n.1679+6220A>G)
c.2075A>G (p.Glu692Gly)
c.2141A>G (p.Glu714Gly)
c.2138A>G (p.Glu713Gly)
c.2111A>G (p.Glu704Gly)
c.2030A>G (p.Glu677Gly)
c.2015A>G (p.Glu672Gly)
c.1622A>G (p.Glu541Gly)
c.2084A>G (p.Glu695Gly)
c.2018A>G (p.Glu673Gly)
c.1976A>G (p.Glu659Gly)
c.1049A>G (p.Glu350Gly)
20g.63407230T>GCA409639140KCNQ2c.2087A>C (p.Glu696Ala)
c.2033A>C (p.Glu678Ala)
c.1430A>C (p.Glu477Ala)
c.1940A>C (p.Glu647Ala)
c.1601A>C (p.Glu534Ala)
c.1949A>C (p.Glu650Ala)
c.2057A>C (p.Glu686Ala)
c.2021A>C (p.Glu674Ala)
c.1979A>C (p.Glu660Ala)
c.1679+6220A>C (n.1679+6220A>C)
c.2075A>C (p.Glu692Ala)
c.2141A>C (p.Glu714Ala)
c.2138A>C (p.Glu713Ala)
c.2111A>C (p.Glu704Ala)
c.2030A>C (p.Glu677Ala)
c.2015A>C (p.Glu672Ala)
c.1622A>C (p.Glu541Ala)
c.2084A>C (p.Glu695Ala)
c.2018A>C (p.Glu673Ala)
c.1976A>C (p.Glu659Ala)
c.1049A>C (p.Glu350Ala)
20g.63407231C>ACA409639141KCNQ2c.2086G>T (p.Glu696Ter)
c.2032G>T (p.Glu678Ter)
c.1429G>T (p.Glu477Ter)
c.1939G>T (p.Glu647Ter)
c.1600G>T (p.Glu534Ter)
c.1948G>T (p.Glu650Ter)
c.2056G>T (p.Glu686Ter)
c.2020G>T (p.Glu674Ter)
c.1978G>T (p.Glu660Ter)
c.1679+6219G>T (n.1679+6219G>T)
c.2074G>T (p.Glu692Ter)
c.2140G>T (p.Glu714Ter)
c.2137G>T (p.Glu713Ter)
c.2110G>T (p.Glu704Ter)
c.2029G>T (p.Glu677Ter)
c.2014G>T (p.Glu672Ter)
c.1621G>T (p.Glu541Ter)
c.2083G>T (p.Glu695Ter)
c.2017G>T (p.Glu673Ter)
c.1975G>T (p.Glu659Ter)
c.1048G>T (p.Glu350Ter)
 gnomAD v4
20g.63407231C=CA2374774499KCNQ2c.2086G= (p.Glu696=)
c.2032G= (p.Glu678=)
c.1429G= (p.Glu477=)
c.1939G= (p.Glu647=)
c.1600G= (p.Glu534=)
c.1948G= (p.Glu650=)
c.2056G= (p.Glu686=)
c.2020G= (p.Glu674=)
c.1978G= (p.Glu660=)
c.1679+6219G= (n.1679+6219G=)
c.2074G= (p.Glu692=)
c.2140G= (p.Glu714=)
c.2137G= (p.Glu713=)
c.2110G= (p.Glu704=)
c.2029G= (p.Glu677=)
c.2014G= (p.Glu672=)
c.1621G= (p.Glu541=)
c.2083G= (p.Glu695=)
c.2017G= (p.Glu673=)
c.1975G= (p.Glu659=)
c.1048G= (p.Glu350=)
20g.63407231C>GCA409639142KCNQ2c.2086G>C (p.Glu696Gln)
c.2032G>C (p.Glu678Gln)
c.1429G>C (p.Glu477Gln)
c.1939G>C (p.Glu647Gln)
c.1600G>C (p.Glu534Gln)
c.1948G>C (p.Glu650Gln)
c.2056G>C (p.Glu686Gln)
c.2020G>C (p.Glu674Gln)
c.1978G>C (p.Glu660Gln)
c.1679+6219G>C (n.1679+6219G>C)
c.2074G>C (p.Glu692Gln)
c.2140G>C (p.Glu714Gln)
c.2137G>C (p.Glu713Gln)
c.2110G>C (p.Glu704Gln)
c.2029G>C (p.Glu677Gln)
c.2014G>C (p.Glu672Gln)
c.1621G>C (p.Glu541Gln)
c.2083G>C (p.Glu695Gln)
c.2017G>C (p.Glu673Gln)
c.1975G>C (p.Glu659Gln)
c.1048G>C (p.Glu350Gln)
20g.63407231C>TCA409639143KCNQ2c.2086G>A (p.Glu696Lys)
c.2032G>A (p.Glu678Lys)
c.1429G>A (p.Glu477Lys)
c.1939G>A (p.Glu647Lys)
c.1600G>A (p.Glu534Lys)
c.1948G>A (p.Glu650Lys)
c.2056G>A (p.Glu686Lys)
c.2020G>A (p.Glu674Lys)
c.1978G>A (p.Glu660Lys)
c.1679+6219G>A (n.1679+6219G>A)
c.2074G>A (p.Glu692Lys)
c.2140G>A (p.Glu714Lys)
c.2137G>A (p.Glu713Lys)
c.2110G>A (p.Glu704Lys)
c.2029G>A (p.Glu677Lys)
c.2014G>A (p.Glu672Lys)
c.1621G>A (p.Glu541Lys)
c.2083G>A (p.Glu695Lys)
c.2017G>A (p.Glu673Lys)
c.1975G>A (p.Glu659Lys)
c.1048G>A (p.Glu350Lys)
 ClinVar dbSNP gnomAD v4
20g.63407233dupCA2695230036KCNQ2c.2086dup (p.Glu696GlyfsTer?)
c.2032dup (p.Glu678GlyfsTer?)
c.1429dup (p.Glu477GlyfsTer?)
c.1939dup (p.Glu647GlyfsTer?)
c.1600dup (p.Glu534GlyfsTer?)
c.1948dup (p.Glu650GlyfsTer?)
c.2056dup (p.Glu686GlyfsTer?)
c.2020dup (p.Glu674GlyfsTer?)
c.1978dup (p.Glu660GlyfsTer?)
c.1679+6219dup (n.1679+6219dup)
c.2074dup (p.Glu692GlyfsTer?)
c.2140dup (p.Glu714GlyfsTer?)
c.2137dup (p.Glu713GlyfsTer?)
c.2110dup (p.Glu704GlyfsTer?)
c.2029dup (p.Glu677GlyfsTer?)
c.2014dup (p.Glu672GlyfsTer?)
c.1621dup (p.Glu541GlyfsTer?)
c.2083dup (p.Glu695GlyfsTer?)
c.2017dup (p.Glu673GlyfsTer?)
c.1975dup (p.Glu659GlyfsTer?)
c.1048dup (p.Glu350GlyfsTer?)
20g.63407233delCA2573157306KCNQ2c.2086del (p.Glu696SerfsTer?)
c.2032del (p.Glu678SerfsTer?)
c.1429del (p.Glu477SerfsTer?)
c.1939del (p.Glu647SerfsTer?)
c.1600del (p.Glu534SerfsTer?)
c.1948del (p.Glu650SerfsTer?)
c.2056del (p.Glu686SerfsTer?)
c.2020del (p.Glu674SerfsTer?)
c.1978del (p.Glu660SerfsTer?)
c.1679+6219del (n.1679+6219del)
c.2074del (p.Glu692SerfsTer?)
c.2140del (p.Glu714SerfsTer?)
c.2137del (p.Glu713SerfsTer?)
c.2110del (p.Glu704SerfsTer?)
c.2029del (p.Glu677SerfsTer?)
c.2014del (p.Glu672SerfsTer?)
c.1621del (p.Glu541SerfsTer?)
c.2083del (p.Glu695SerfsTer?)
c.2017del (p.Glu673SerfsTer?)
c.1975del (p.Glu659SerfsTer?)
c.1048del (p.Glu350SerfsTer?)
 ClinVar dbSNP
20g.63407232C>ACA511339432KCNQ2c.2085G>T (p.Arg695=)
c.2031G>T (p.Arg677=)
c.1428G>T (p.Arg476=)
c.1938G>T (p.Arg646=)
c.1599G>T (p.Arg533=)
c.1947G>T (p.Arg649=)
c.2055G>T (p.Arg685=)
c.2019G>T (p.Arg673=)
c.1977G>T (p.Arg659=)
c.1679+6218G>T (n.1679+6218G>T)
c.2073G>T (p.Arg691=)
c.2139G>T (p.Arg713=)
c.2136G>T (p.Arg712=)
c.2109G>T (p.Arg703=)
c.2028G>T (p.Arg676=)
c.2013G>T (p.Arg671=)
c.1620G>T (p.Arg540=)
c.2082G>T (p.Arg694=)
c.2016G>T (p.Arg672=)
c.1974G>T (p.Arg658=)
c.1047G>T (p.Arg349=)
 gnomAD v4
20g.63407232C=CA2374774500KCNQ2c.2085G= (p.Arg695=)
c.2031G= (p.Arg677=)
c.1428G= (p.Arg476=)
c.1938G= (p.Arg646=)
c.1599G= (p.Arg533=)
c.1947G= (p.Arg649=)
c.2055G= (p.Arg685=)
c.2019G= (p.Arg673=)
c.1977G= (p.Arg659=)
c.1679+6218G= (n.1679+6218G=)
c.2073G= (p.Arg691=)
c.2139G= (p.Arg713=)
c.2136G= (p.Arg712=)
c.2109G= (p.Arg703=)
c.2028G= (p.Arg676=)
c.2013G= (p.Arg671=)
c.1620G= (p.Arg540=)
c.2082G= (p.Arg694=)
c.2016G= (p.Arg672=)
c.1974G= (p.Arg658=)
c.1047G= (p.Arg349=)
20g.63407232C>GCA511339433KCNQ2c.2085G>C (p.Arg695=)
c.2031G>C (p.Arg677=)
c.1428G>C (p.Arg476=)
c.1938G>C (p.Arg646=)
c.1599G>C (p.Arg533=)
c.1947G>C (p.Arg649=)
c.2055G>C (p.Arg685=)
c.2019G>C (p.Arg673=)
c.1977G>C (p.Arg659=)
c.1679+6218G>C (n.1679+6218G>C)
c.2073G>C (p.Arg691=)
c.2139G>C (p.Arg713=)
c.2136G>C (p.Arg712=)
c.2109G>C (p.Arg703=)
c.2028G>C (p.Arg676=)
c.2013G>C (p.Arg671=)
c.1620G>C (p.Arg540=)
c.2082G>C (p.Arg694=)
c.2016G>C (p.Arg672=)
c.1974G>C (p.Arg658=)
c.1047G>C (p.Arg349=)
20g.63407232C>TCA288930KCNQ2c.2085G>A (p.Arg695=)
c.2031G>A (p.Arg677=)
c.1428G>A (p.Arg476=)
c.1938G>A (p.Arg646=)
c.1599G>A (p.Arg533=)
c.1947G>A (p.Arg649=)
c.2055G>A (p.Arg685=)
c.2019G>A (p.Arg673=)
c.1977G>A (p.Arg659=)
c.1679+6218G>A (n.1679+6218G>A)
c.2073G>A (p.Arg691=)
c.2139G>A (p.Arg713=)
c.2136G>A (p.Arg712=)
c.2109G>A (p.Arg703=)
c.2028G>A (p.Arg676=)
c.2013G>A (p.Arg671=)
c.1620G>A (p.Arg540=)
c.2082G>A (p.Arg694=)
c.2016G>A (p.Arg672=)
c.1974G>A (p.Arg658=)
c.1047G>A (p.Arg349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407233C>ACA409639144KCNQ2c.2084G>T (p.Arg695Leu)
c.2030G>T (p.Arg677Leu)
c.1427G>T (p.Arg476Leu)
c.1937G>T (p.Arg646Leu)
c.1598G>T (p.Arg533Leu)
c.1946G>T (p.Arg649Leu)
c.2054G>T (p.Arg685Leu)
c.2018G>T (p.Arg673Leu)
c.1976G>T (p.Arg659Leu)
c.1679+6217G>T (n.1679+6217G>T)
c.2072G>T (p.Arg691Leu)
c.2138G>T (p.Arg713Leu)
c.2135G>T (p.Arg712Leu)
c.2108G>T (p.Arg703Leu)
c.2027G>T (p.Arg676Leu)
c.2012G>T (p.Arg671Leu)
c.1619G>T (p.Arg540Leu)
c.2081G>T (p.Arg694Leu)
c.2015G>T (p.Arg672Leu)
c.1973G>T (p.Arg658Leu)
c.1046G>T (p.Arg349Leu)
 gnomAD v4
20g.63407233C=CA2374774501KCNQ2c.2084G= (p.Arg695=)
c.2030G= (p.Arg677=)
c.1427G= (p.Arg476=)
c.1937G= (p.Arg646=)
c.1598G= (p.Arg533=)
c.1946G= (p.Arg649=)
c.2054G= (p.Arg685=)
c.2018G= (p.Arg673=)
c.1976G= (p.Arg659=)
c.1679+6217G= (n.1679+6217G=)
c.2072G= (p.Arg691=)
c.2138G= (p.Arg713=)
c.2135G= (p.Arg712=)
c.2108G= (p.Arg703=)
c.2027G= (p.Arg676=)
c.2012G= (p.Arg671=)
c.1619G= (p.Arg540=)
c.2081G= (p.Arg694=)
c.2015G= (p.Arg672=)
c.1973G= (p.Arg658=)
c.1046G= (p.Arg349=)
20g.63407233C>GCA409639145KCNQ2c.2084G>C (p.Arg695Pro)
c.2030G>C (p.Arg677Pro)
c.1427G>C (p.Arg476Pro)
c.1937G>C (p.Arg646Pro)
c.1598G>C (p.Arg533Pro)
c.1946G>C (p.Arg649Pro)
c.2054G>C (p.Arg685Pro)
c.2018G>C (p.Arg673Pro)
c.1976G>C (p.Arg659Pro)
c.1679+6217G>C (n.1679+6217G>C)
c.2072G>C (p.Arg691Pro)
c.2138G>C (p.Arg713Pro)
c.2135G>C (p.Arg712Pro)
c.2108G>C (p.Arg703Pro)
c.2027G>C (p.Arg676Pro)
c.2012G>C (p.Arg671Pro)
c.1619G>C (p.Arg540Pro)
c.2081G>C (p.Arg694Pro)
c.2015G>C (p.Arg672Pro)
c.1973G>C (p.Arg658Pro)
c.1046G>C (p.Arg349Pro)
 ClinVar dbSNP
20g.63407233C>TCA409639146KCNQ2c.2084G>A (p.Arg695Gln)
c.2030G>A (p.Arg677Gln)
c.1427G>A (p.Arg476Gln)
c.1937G>A (p.Arg646Gln)
c.1598G>A (p.Arg533Gln)
c.1946G>A (p.Arg649Gln)
c.2054G>A (p.Arg685Gln)
c.2018G>A (p.Arg673Gln)
c.1976G>A (p.Arg659Gln)
c.1679+6217G>A (n.1679+6217G>A)
c.2072G>A (p.Arg691Gln)
c.2138G>A (p.Arg713Gln)
c.2135G>A (p.Arg712Gln)
c.2108G>A (p.Arg703Gln)
c.2027G>A (p.Arg676Gln)
c.2012G>A (p.Arg671Gln)
c.1619G>A (p.Arg540Gln)
c.2081G>A (p.Arg694Gln)
c.2015G>A (p.Arg672Gln)
c.1973G>A (p.Arg658Gln)
c.1046G>A (p.Arg349Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407234G>ACA9958166KCNQ2c.2083C>T (p.Arg695Trp)
c.2029C>T (p.Arg677Trp)
c.1426C>T (p.Arg476Trp)
c.1936C>T (p.Arg646Trp)
c.1597C>T (p.Arg533Trp)
c.1945C>T (p.Arg649Trp)
c.2053C>T (p.Arg685Trp)
c.2017C>T (p.Arg673Trp)
c.1975C>T (p.Arg659Trp)
c.1679+6216C>T (n.1679+6216C>T)
c.2071C>T (p.Arg691Trp)
c.2137C>T (p.Arg713Trp)
c.2134C>T (p.Arg712Trp)
c.2107C>T (p.Arg703Trp)
c.2026C>T (p.Arg676Trp)
c.2011C>T (p.Arg671Trp)
c.1618C>T (p.Arg540Trp)
c.2080C>T (p.Arg694Trp)
c.2014C>T (p.Arg672Trp)
c.1972C>T (p.Arg658Trp)
c.1045C>T (p.Arg349Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407234G>CCA409639147KCNQ2c.2083C>G (p.Arg695Gly)
c.2029C>G (p.Arg677Gly)
c.1426C>G (p.Arg476Gly)
c.1936C>G (p.Arg646Gly)
c.1597C>G (p.Arg533Gly)
c.1945C>G (p.Arg649Gly)
c.2053C>G (p.Arg685Gly)
c.2017C>G (p.Arg673Gly)
c.1975C>G (p.Arg659Gly)
c.1679+6216C>G (n.1679+6216C>G)
c.2071C>G (p.Arg691Gly)
c.2137C>G (p.Arg713Gly)
c.2134C>G (p.Arg712Gly)
c.2107C>G (p.Arg703Gly)
c.2026C>G (p.Arg676Gly)
c.2011C>G (p.Arg671Gly)
c.1618C>G (p.Arg540Gly)
c.2080C>G (p.Arg694Gly)
c.2014C>G (p.Arg672Gly)
c.1972C>G (p.Arg658Gly)
c.1045C>G (p.Arg349Gly)
20g.63407234G=CA2374774502KCNQ2c.2083C= (p.Arg695=)
c.2029C= (p.Arg677=)
c.1426C= (p.Arg476=)
c.1936C= (p.Arg646=)
c.1597C= (p.Arg533=)
c.1945C= (p.Arg649=)
c.2053C= (p.Arg685=)
c.2017C= (p.Arg673=)
c.1975C= (p.Arg659=)
c.1679+6216C= (n.1679+6216C=)
c.2071C= (p.Arg691=)
c.2137C= (p.Arg713=)
c.2134C= (p.Arg712=)
c.2107C= (p.Arg703=)
c.2026C= (p.Arg676=)
c.2011C= (p.Arg671=)
c.1618C= (p.Arg540=)
c.2080C= (p.Arg694=)
c.2014C= (p.Arg672=)
c.1972C= (p.Arg658=)
c.1045C= (p.Arg349=)
20g.63407234G>TCA9958167KCNQ2c.2083C>A (p.Arg695=)
c.2029C>A (p.Arg677=)
c.1426C>A (p.Arg476=)
c.1936C>A (p.Arg646=)
c.1597C>A (p.Arg533=)
c.1945C>A (p.Arg649=)
c.2053C>A (p.Arg685=)
c.2017C>A (p.Arg673=)
c.1975C>A (p.Arg659=)
c.1679+6216C>A (n.1679+6216C>A)
c.2071C>A (p.Arg691=)
c.2137C>A (p.Arg713=)
c.2134C>A (p.Arg712=)
c.2107C>A (p.Arg703=)
c.2026C>A (p.Arg676=)
c.2011C>A (p.Arg671=)
c.1618C>A (p.Arg540=)
c.2080C>A (p.Arg694=)
c.2014C>A (p.Arg672=)
c.1972C>A (p.Arg658=)
c.1045C>A (p.Arg349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407235G>ACA511339436KCNQ2c.2082C>T (p.Ser694=)
c.2028C>T (p.Ser676=)
c.1425C>T (p.Ser475=)
c.1935C>T (p.Ser645=)
c.1596C>T (p.Ser532=)
c.1944C>T (p.Ser648=)
c.2052C>T (p.Ser684=)
c.2016C>T (p.Ser672=)
c.1974C>T (p.Ser658=)
c.1679+6215C>T (n.1679+6215C>T)
c.2070C>T (p.Ser690=)
c.2136C>T (p.Ser712=)
c.2133C>T (p.Ser711=)
c.2106C>T (p.Ser702=)
c.2025C>T (p.Ser675=)
c.2010C>T (p.Ser670=)
c.1617C>T (p.Ser539=)
c.2079C>T (p.Ser693=)
c.2013C>T (p.Ser671=)
c.1971C>T (p.Ser657=)
c.1044C>T (p.Ser348=)
 gnomAD v4
20g.63407235G>CCA409639149KCNQ2c.2082C>G (p.Ser694Arg)
c.2028C>G (p.Ser676Arg)
c.1425C>G (p.Ser475Arg)
c.1935C>G (p.Ser645Arg)
c.1596C>G (p.Ser532Arg)
c.1944C>G (p.Ser648Arg)
c.2052C>G (p.Ser684Arg)
c.2016C>G (p.Ser672Arg)
c.1974C>G (p.Ser658Arg)
c.1679+6215C>G (n.1679+6215C>G)
c.2070C>G (p.Ser690Arg)
c.2136C>G (p.Ser712Arg)
c.2133C>G (p.Ser711Arg)
c.2106C>G (p.Ser702Arg)
c.2025C>G (p.Ser675Arg)
c.2010C>G (p.Ser670Arg)
c.1617C>G (p.Ser539Arg)
c.2079C>G (p.Ser693Arg)
c.2013C>G (p.Ser671Arg)
c.1971C>G (p.Ser657Arg)
c.1044C>G (p.Ser348Arg)
 gnomAD v4
20g.63407235G>TCA409639148KCNQ2c.2082C>A (p.Ser694Arg)
c.2028C>A (p.Ser676Arg)
c.1425C>A (p.Ser475Arg)
c.1935C>A (p.Ser645Arg)
c.1596C>A (p.Ser532Arg)
c.1944C>A (p.Ser648Arg)
c.2052C>A (p.Ser684Arg)
c.2016C>A (p.Ser672Arg)
c.1974C>A (p.Ser658Arg)
c.1679+6215C>A (n.1679+6215C>A)
c.2070C>A (p.Ser690Arg)
c.2136C>A (p.Ser712Arg)
c.2133C>A (p.Ser711Arg)
c.2106C>A (p.Ser702Arg)
c.2025C>A (p.Ser675Arg)
c.2010C>A (p.Ser670Arg)
c.1617C>A (p.Ser539Arg)
c.2079C>A (p.Ser693Arg)
c.2013C>A (p.Ser671Arg)
c.1971C>A (p.Ser657Arg)
c.1044C>A (p.Ser348Arg)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407236C>ACA409639150KCNQ2c.2081G>T (p.Ser694Ile)
c.2027G>T (p.Ser676Ile)
c.1424G>T (p.Ser475Ile)
c.1934G>T (p.Ser645Ile)
c.1595G>T (p.Ser532Ile)
c.1943G>T (p.Ser648Ile)
c.2051G>T (p.Ser684Ile)
c.2015G>T (p.Ser672Ile)
c.1973G>T (p.Ser658Ile)
c.1679+6214G>T (n.1679+6214G>T)
c.2069G>T (p.Ser690Ile)
c.2135G>T (p.Ser712Ile)
c.2132G>T (p.Ser711Ile)
c.2105G>T (p.Ser702Ile)
c.2024G>T (p.Ser675Ile)
c.2009G>T (p.Ser670Ile)
c.1616G>T (p.Ser539Ile)
c.2078G>T (p.Ser693Ile)
c.2012G>T (p.Ser671Ile)
c.1970G>T (p.Ser657Ile)
c.1043G>T (p.Ser348Ile)
20g.63407236C>GCA409639152KCNQ2c.2081G>C (p.Ser694Thr)
c.2027G>C (p.Ser676Thr)
c.1424G>C (p.Ser475Thr)
c.1934G>C (p.Ser645Thr)
c.1595G>C (p.Ser532Thr)
c.1943G>C (p.Ser648Thr)
c.2051G>C (p.Ser684Thr)
c.2015G>C (p.Ser672Thr)
c.1973G>C (p.Ser658Thr)
c.1679+6214G>C (n.1679+6214G>C)
c.2069G>C (p.Ser690Thr)
c.2135G>C (p.Ser712Thr)
c.2132G>C (p.Ser711Thr)
c.2105G>C (p.Ser702Thr)
c.2024G>C (p.Ser675Thr)
c.2009G>C (p.Ser670Thr)
c.1616G>C (p.Ser539Thr)
c.2078G>C (p.Ser693Thr)
c.2012G>C (p.Ser671Thr)
c.1970G>C (p.Ser657Thr)
c.1043G>C (p.Ser348Thr)
20g.63407236C>TCA409639151KCNQ2c.2081G>A (p.Ser694Asn)
c.2027G>A (p.Ser676Asn)
c.1424G>A (p.Ser475Asn)
c.1934G>A (p.Ser645Asn)
c.1595G>A (p.Ser532Asn)
c.1943G>A (p.Ser648Asn)
c.2051G>A (p.Ser684Asn)
c.2015G>A (p.Ser672Asn)
c.1973G>A (p.Ser658Asn)
c.1679+6214G>A (n.1679+6214G>A)
c.2069G>A (p.Ser690Asn)
c.2135G>A (p.Ser712Asn)
c.2132G>A (p.Ser711Asn)
c.2105G>A (p.Ser702Asn)
c.2024G>A (p.Ser675Asn)
c.2009G>A (p.Ser670Asn)
c.1616G>A (p.Ser539Asn)
c.2078G>A (p.Ser693Asn)
c.2012G>A (p.Ser671Asn)
c.1970G>A (p.Ser657Asn)
c.1043G>A (p.Ser348Asn)
 gnomAD v4
20g.63407237T>ACA409639153KCNQ2c.2080A>T (p.Ser694Cys)
c.2026A>T (p.Ser676Cys)
c.1423A>T (p.Ser475Cys)
c.1933A>T (p.Ser645Cys)
c.1594A>T (p.Ser532Cys)
c.1942A>T (p.Ser648Cys)
c.2050A>T (p.Ser684Cys)
c.2014A>T (p.Ser672Cys)
c.1972A>T (p.Ser658Cys)
c.1679+6213A>T (n.1679+6213A>T)
c.2068A>T (p.Ser690Cys)
c.2134A>T (p.Ser712Cys)
c.2131A>T (p.Ser711Cys)
c.2104A>T (p.Ser702Cys)
c.2023A>T (p.Ser675Cys)
c.2008A>T (p.Ser670Cys)
c.1615A>T (p.Ser539Cys)
c.2077A>T (p.Ser693Cys)
c.2011A>T (p.Ser671Cys)
c.1969A>T (p.Ser657Cys)
c.1042A>T (p.Ser348Cys)
20g.63407237T>CCA409639154KCNQ2c.2080A>G (p.Ser694Gly)
c.2026A>G (p.Ser676Gly)
c.1423A>G (p.Ser475Gly)
c.1933A>G (p.Ser645Gly)
c.1594A>G (p.Ser532Gly)
c.1942A>G (p.Ser648Gly)
c.2050A>G (p.Ser684Gly)
c.2014A>G (p.Ser672Gly)
c.1972A>G (p.Ser658Gly)
c.1679+6213A>G (n.1679+6213A>G)
c.2068A>G (p.Ser690Gly)
c.2134A>G (p.Ser712Gly)
c.2131A>G (p.Ser711Gly)
c.2104A>G (p.Ser702Gly)
c.2023A>G (p.Ser675Gly)
c.2008A>G (p.Ser670Gly)
c.1615A>G (p.Ser539Gly)
c.2077A>G (p.Ser693Gly)
c.2011A>G (p.Ser671Gly)
c.1969A>G (p.Ser657Gly)
c.1042A>G (p.Ser348Gly)
20g.63407237T>GCA409639155KCNQ2c.2080A>C (p.Ser694Arg)
c.2026A>C (p.Ser676Arg)
c.1423A>C (p.Ser475Arg)
c.1933A>C (p.Ser645Arg)
c.1594A>C (p.Ser532Arg)
c.1942A>C (p.Ser648Arg)
c.2050A>C (p.Ser684Arg)
c.2014A>C (p.Ser672Arg)
c.1972A>C (p.Ser658Arg)
c.1679+6213A>C (n.1679+6213A>C)
c.2068A>C (p.Ser690Arg)
c.2134A>C (p.Ser712Arg)
c.2131A>C (p.Ser711Arg)
c.2104A>C (p.Ser702Arg)
c.2023A>C (p.Ser675Arg)
c.2008A>C (p.Ser670Arg)
c.1615A>C (p.Ser539Arg)
c.2077A>C (p.Ser693Arg)
c.2011A>C (p.Ser671Arg)
c.1969A>C (p.Ser657Arg)
c.1042A>C (p.Ser348Arg)
20g.63407238G>ACA511339437KCNQ2c.2079C>T (p.Asp693=)
c.2025C>T (p.Asp675=)
c.1422C>T (p.Asp474=)
c.1932C>T (p.Asp644=)
c.1593C>T (p.Asp531=)
c.1941C>T (p.Asp647=)
c.2049C>T (p.Asp683=)
c.2013C>T (p.Asp671=)
c.1971C>T (p.Asp657=)
c.1679+6212C>T (n.1679+6212C>T)
c.2067C>T (p.Asp689=)
c.2133C>T (p.Asp711=)
c.2130C>T (p.Asp710=)
c.2103C>T (p.Asp701=)
c.2022C>T (p.Asp674=)
c.2007C>T (p.Asp669=)
c.1614C>T (p.Asp538=)
c.2076C>T (p.Asp692=)
c.2010C>T (p.Asp670=)
c.1968C>T (p.Asp656=)
c.1041C>T (p.Asp347=)
 ClinVar gnomAD v4
20g.63407238G>CCA9958168KCNQ2c.2079C>G (p.Asp693Glu)
c.2025C>G (p.Asp675Glu)
c.1422C>G (p.Asp474Glu)
c.1932C>G (p.Asp644Glu)
c.1593C>G (p.Asp531Glu)
c.1941C>G (p.Asp647Glu)
c.2049C>G (p.Asp683Glu)
c.2013C>G (p.Asp671Glu)
c.1971C>G (p.Asp657Glu)
c.1679+6212C>G (n.1679+6212C>G)
c.2067C>G (p.Asp689Glu)
c.2133C>G (p.Asp711Glu)
c.2130C>G (p.Asp710Glu)
c.2103C>G (p.Asp701Glu)
c.2022C>G (p.Asp674Glu)
c.2007C>G (p.Asp669Glu)
c.1614C>G (p.Asp538Glu)
c.2076C>G (p.Asp692Glu)
c.2010C>G (p.Asp670Glu)
c.1968C>G (p.Asp656Glu)
c.1041C>G (p.Asp347Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407238G=CA2374774503KCNQ2c.2079C= (p.Asp693=)
c.2025C= (p.Asp675=)
c.1422C= (p.Asp474=)
c.1932C= (p.Asp644=)
c.1593C= (p.Asp531=)
c.1941C= (p.Asp647=)
c.2049C= (p.Asp683=)
c.2013C= (p.Asp671=)
c.1971C= (p.Asp657=)
c.1679+6212C= (n.1679+6212C=)
c.2067C= (p.Asp689=)
c.2133C= (p.Asp711=)
c.2130C= (p.Asp710=)
c.2103C= (p.Asp701=)
c.2022C= (p.Asp674=)
c.2007C= (p.Asp669=)
c.1614C= (p.Asp538=)
c.2076C= (p.Asp692=)
c.2010C= (p.Asp670=)
c.1968C= (p.Asp656=)
c.1041C= (p.Asp347=)
20g.63407238G>TCA409639156KCNQ2c.2079C>A (p.Asp693Glu)
c.2025C>A (p.Asp675Glu)
c.1422C>A (p.Asp474Glu)
c.1932C>A (p.Asp644Glu)
c.1593C>A (p.Asp531Glu)
c.1941C>A (p.Asp647Glu)
c.2049C>A (p.Asp683Glu)
c.2013C>A (p.Asp671Glu)
c.1971C>A (p.Asp657Glu)
c.1679+6212C>A (n.1679+6212C>A)
c.2067C>A (p.Asp689Glu)
c.2133C>A (p.Asp711Glu)
c.2130C>A (p.Asp710Glu)
c.2103C>A (p.Asp701Glu)
c.2022C>A (p.Asp674Glu)
c.2007C>A (p.Asp669Glu)
c.1614C>A (p.Asp538Glu)
c.2076C>A (p.Asp692Glu)
c.2010C>A (p.Asp670Glu)
c.1968C>A (p.Asp656Glu)
c.1041C>A (p.Asp347Glu)
 gnomAD v4
20g.63407239T>ACA409639157KCNQ2c.2078A>T (p.Asp693Val)
c.2024A>T (p.Asp675Val)
c.1421A>T (p.Asp474Val)
c.1931A>T (p.Asp644Val)
c.1592A>T (p.Asp531Val)
c.1940A>T (p.Asp647Val)
c.2048A>T (p.Asp683Val)
c.2012A>T (p.Asp671Val)
c.1970A>T (p.Asp657Val)
c.1679+6211A>T (n.1679+6211A>T)
c.2066A>T (p.Asp689Val)
c.2132A>T (p.Asp711Val)
c.2129A>T (p.Asp710Val)
c.2102A>T (p.Asp701Val)
c.2021A>T (p.Asp674Val)
c.2006A>T (p.Asp669Val)
c.1613A>T (p.Asp538Val)
c.2075A>T (p.Asp692Val)
c.2009A>T (p.Asp670Val)
c.1967A>T (p.Asp656Val)
c.1040A>T (p.Asp347Val)
20g.63407239T>CCA409639158KCNQ2c.2078A>G (p.Asp693Gly)
c.2024A>G (p.Asp675Gly)
c.1421A>G (p.Asp474Gly)
c.1931A>G (p.Asp644Gly)
c.1592A>G (p.Asp531Gly)
c.1940A>G (p.Asp647Gly)
c.2048A>G (p.Asp683Gly)
c.2012A>G (p.Asp671Gly)
c.1970A>G (p.Asp657Gly)
c.1679+6211A>G (n.1679+6211A>G)
c.2066A>G (p.Asp689Gly)
c.2132A>G (p.Asp711Gly)
c.2129A>G (p.Asp710Gly)
c.2102A>G (p.Asp701Gly)
c.2021A>G (p.Asp674Gly)
c.2006A>G (p.Asp669Gly)
c.1613A>G (p.Asp538Gly)
c.2075A>G (p.Asp692Gly)
c.2009A>G (p.Asp670Gly)
c.1967A>G (p.Asp656Gly)
c.1040A>G (p.Asp347Gly)
 dbSNP gnomAD v2
20g.63407239T>GCA409639159KCNQ2c.2078A>C (p.Asp693Ala)
c.2024A>C (p.Asp675Ala)
c.1421A>C (p.Asp474Ala)
c.1931A>C (p.Asp644Ala)
c.1592A>C (p.Asp531Ala)
c.1940A>C (p.Asp647Ala)
c.2048A>C (p.Asp683Ala)
c.2012A>C (p.Asp671Ala)
c.1970A>C (p.Asp657Ala)
c.1679+6211A>C (n.1679+6211A>C)
c.2066A>C (p.Asp689Ala)
c.2132A>C (p.Asp711Ala)
c.2129A>C (p.Asp710Ala)
c.2102A>C (p.Asp701Ala)
c.2021A>C (p.Asp674Ala)
c.2006A>C (p.Asp669Ala)
c.1613A>C (p.Asp538Ala)
c.2075A>C (p.Asp692Ala)
c.2009A>C (p.Asp670Ala)
c.1967A>C (p.Asp656Ala)
c.1040A>C (p.Asp347Ala)
20g.63407239T=CA2374774504KCNQ2c.2078A= (p.Asp693=)
c.2024A= (p.Asp675=)
c.1421A= (p.Asp474=)
c.1931A= (p.Asp644=)
c.1592A= (p.Asp531=)
c.1940A= (p.Asp647=)
c.2048A= (p.Asp683=)
c.2012A= (p.Asp671=)
c.1970A= (p.Asp657=)
c.1679+6211A= (n.1679+6211A=)
c.2066A= (p.Asp689=)
c.2132A= (p.Asp711=)
c.2129A= (p.Asp710=)
c.2102A= (p.Asp701=)
c.2021A= (p.Asp674=)
c.2006A= (p.Asp669=)
c.1613A= (p.Asp538=)
c.2075A= (p.Asp692=)
c.2009A= (p.Asp670=)
c.1967A= (p.Asp656=)
c.1040A= (p.Asp347=)
20g.63407240C>ACA409639160KCNQ2c.2077G>T (p.Asp693Tyr)
c.2023G>T (p.Asp675Tyr)
c.1420G>T (p.Asp474Tyr)
c.1930G>T (p.Asp644Tyr)
c.1591G>T (p.Asp531Tyr)
c.1939G>T (p.Asp647Tyr)
c.2047G>T (p.Asp683Tyr)
c.2011G>T (p.Asp671Tyr)
c.1969G>T (p.Asp657Tyr)
c.1679+6210G>T (n.1679+6210G>T)
c.2065G>T (p.Asp689Tyr)
c.2131G>T (p.Asp711Tyr)
c.2128G>T (p.Asp710Tyr)
c.2101G>T (p.Asp701Tyr)
c.2020G>T (p.Asp674Tyr)
c.2005G>T (p.Asp669Tyr)
c.1612G>T (p.Asp538Tyr)
c.2074G>T (p.Asp692Tyr)
c.2008G>T (p.Asp670Tyr)
c.1966G>T (p.Asp656Tyr)
c.1039G>T (p.Asp347Tyr)
20g.63407240C=CA2374774505KCNQ2c.2077G= (p.Asp693=)
c.2023G= (p.Asp675=)
c.1420G= (p.Asp474=)
c.1930G= (p.Asp644=)
c.1591G= (p.Asp531=)
c.1939G= (p.Asp647=)
c.2047G= (p.Asp683=)
c.2011G= (p.Asp671=)
c.1969G= (p.Asp657=)
c.1679+6210G= (n.1679+6210G=)
c.2065G= (p.Asp689=)
c.2131G= (p.Asp711=)
c.2128G= (p.Asp710=)
c.2101G= (p.Asp701=)
c.2020G= (p.Asp674=)
c.2005G= (p.Asp669=)
c.1612G= (p.Asp538=)
c.2074G= (p.Asp692=)
c.2008G= (p.Asp670=)
c.1966G= (p.Asp656=)
c.1039G= (p.Asp347=)
20g.63407240C>GCA409639161KCNQ2c.2077G>C (p.Asp693His)
c.2023G>C (p.Asp675His)
c.1420G>C (p.Asp474His)
c.1930G>C (p.Asp644His)
c.1591G>C (p.Asp531His)
c.1939G>C (p.Asp647His)
c.2047G>C (p.Asp683His)
c.2011G>C (p.Asp671His)
c.1969G>C (p.Asp657His)
c.1679+6210G>C (n.1679+6210G>C)
c.2065G>C (p.Asp689His)
c.2131G>C (p.Asp711His)
c.2128G>C (p.Asp710His)
c.2101G>C (p.Asp701His)
c.2020G>C (p.Asp674His)
c.2005G>C (p.Asp669His)
c.1612G>C (p.Asp538His)
c.2074G>C (p.Asp692His)
c.2008G>C (p.Asp670His)
c.1966G>C (p.Asp656His)
c.1039G>C (p.Asp347His)
20g.63407240C>TCA9958169KCNQ2c.2077G>A (p.Asp693Asn)
c.2023G>A (p.Asp675Asn)
c.1420G>A (p.Asp474Asn)
c.1930G>A (p.Asp644Asn)
c.1591G>A (p.Asp531Asn)
c.1939G>A (p.Asp647Asn)
c.2047G>A (p.Asp683Asn)
c.2011G>A (p.Asp671Asn)
c.1969G>A (p.Asp657Asn)
c.1679+6210G>A (n.1679+6210G>A)
c.2065G>A (p.Asp689Asn)
c.2131G>A (p.Asp711Asn)
c.2128G>A (p.Asp710Asn)
c.2101G>A (p.Asp701Asn)
c.2020G>A (p.Asp674Asn)
c.2005G>A (p.Asp669Asn)
c.1612G>A (p.Asp538Asn)
c.2074G>A (p.Asp692Asn)
c.2008G>A (p.Asp670Asn)
c.1966G>A (p.Asp656Asn)
c.1039G>A (p.Asp347Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407241T>ACA409639162KCNQ2c.2076A>T (p.Glu692Asp)
c.2022A>T (p.Glu674Asp)
c.1419A>T (p.Glu473Asp)
c.1929A>T (p.Glu643Asp)
c.1590A>T (p.Glu530Asp)
c.1938A>T (p.Glu646Asp)
c.2046A>T (p.Glu682Asp)
c.2010A>T (p.Glu670Asp)
c.1968A>T (p.Glu656Asp)
c.1679+6209A>T (n.1679+6209A>T)
c.2064A>T (p.Glu688Asp)
c.2130A>T (p.Glu710Asp)
c.2127A>T (p.Glu709Asp)
c.2100A>T (p.Glu700Asp)
c.2019A>T (p.Glu673Asp)
c.2004A>T (p.Glu668Asp)
c.1611A>T (p.Glu537Asp)
c.2073A>T (p.Glu691Asp)
c.2007A>T (p.Glu669Asp)
c.1965A>T (p.Glu655Asp)
c.1038A>T (p.Glu346Asp)
20g.63407241T>CCA511339438KCNQ2c.2076A>G (p.Glu692=)
c.2022A>G (p.Glu674=)
c.1419A>G (p.Glu473=)
c.1929A>G (p.Glu643=)
c.1590A>G (p.Glu530=)
c.1938A>G (p.Glu646=)
c.2046A>G (p.Glu682=)
c.2010A>G (p.Glu670=)
c.1968A>G (p.Glu656=)
c.1679+6209A>G (n.1679+6209A>G)
c.2064A>G (p.Glu688=)
c.2130A>G (p.Glu710=)
c.2127A>G (p.Glu709=)
c.2100A>G (p.Glu700=)
c.2019A>G (p.Glu673=)
c.2004A>G (p.Glu668=)
c.1611A>G (p.Glu537=)
c.2073A>G (p.Glu691=)
c.2007A>G (p.Glu669=)
c.1965A>G (p.Glu655=)
c.1038A>G (p.Glu346=)
 gnomAD v4
20g.63407241T>GCA409639163KCNQ2c.2076A>C (p.Glu692Asp)
c.2022A>C (p.Glu674Asp)
c.1419A>C (p.Glu473Asp)
c.1929A>C (p.Glu643Asp)
c.1590A>C (p.Glu530Asp)
c.1938A>C (p.Glu646Asp)
c.2046A>C (p.Glu682Asp)
c.2010A>C (p.Glu670Asp)
c.1968A>C (p.Glu656Asp)
c.1679+6209A>C (n.1679+6209A>C)
c.2064A>C (p.Glu688Asp)
c.2130A>C (p.Glu710Asp)
c.2127A>C (p.Glu709Asp)
c.2100A>C (p.Glu700Asp)
c.2019A>C (p.Glu673Asp)
c.2004A>C (p.Glu668Asp)
c.1611A>C (p.Glu537Asp)
c.2073A>C (p.Glu691Asp)
c.2007A>C (p.Glu669Asp)
c.1965A>C (p.Glu655Asp)
c.1038A>C (p.Glu346Asp)
20g.63407242T>ACA409639166KCNQ2c.2075A>T (p.Glu692Val)
c.2021A>T (p.Glu674Val)
c.1418A>T (p.Glu473Val)
c.1928A>T (p.Glu643Val)
c.1589A>T (p.Glu530Val)
c.1937A>T (p.Glu646Val)
c.2045A>T (p.Glu682Val)
c.2009A>T (p.Glu670Val)
c.1967A>T (p.Glu656Val)
c.1679+6208A>T (n.1679+6208A>T)
c.2063A>T (p.Glu688Val)
c.2129A>T (p.Glu710Val)
c.2126A>T (p.Glu709Val)
c.2099A>T (p.Glu700Val)
c.2018A>T (p.Glu673Val)
c.2003A>T (p.Glu668Val)
c.1610A>T (p.Glu537Val)
c.2072A>T (p.Glu691Val)
c.2006A>T (p.Glu669Val)
c.1964A>T (p.Glu655Val)
c.1037A>T (p.Glu346Val)
20g.63407242T>CCA409639164KCNQ2c.2075A>G (p.Glu692Gly)
c.2021A>G (p.Glu674Gly)
c.1418A>G (p.Glu473Gly)
c.1928A>G (p.Glu643Gly)
c.1589A>G (p.Glu530Gly)
c.1937A>G (p.Glu646Gly)
c.2045A>G (p.Glu682Gly)
c.2009A>G (p.Glu670Gly)
c.1967A>G (p.Glu656Gly)
c.1679+6208A>G (n.1679+6208A>G)
c.2063A>G (p.Glu688Gly)
c.2129A>G (p.Glu710Gly)
c.2126A>G (p.Glu709Gly)
c.2099A>G (p.Glu700Gly)
c.2018A>G (p.Glu673Gly)
c.2003A>G (p.Glu668Gly)
c.1610A>G (p.Glu537Gly)
c.2072A>G (p.Glu691Gly)
c.2006A>G (p.Glu669Gly)
c.1964A>G (p.Glu655Gly)
c.1037A>G (p.Glu346Gly)
 gnomAD v4
20g.63407242T>GCA409639165KCNQ2c.2075A>C (p.Glu692Ala)
c.2021A>C (p.Glu674Ala)
c.1418A>C (p.Glu473Ala)
c.1928A>C (p.Glu643Ala)
c.1589A>C (p.Glu530Ala)
c.1937A>C (p.Glu646Ala)
c.2045A>C (p.Glu682Ala)
c.2009A>C (p.Glu670Ala)
c.1967A>C (p.Glu656Ala)
c.1679+6208A>C (n.1679+6208A>C)
c.2063A>C (p.Glu688Ala)
c.2129A>C (p.Glu710Ala)
c.2126A>C (p.Glu709Ala)
c.2099A>C (p.Glu700Ala)
c.2018A>C (p.Glu673Ala)
c.2003A>C (p.Glu668Ala)
c.1610A>C (p.Glu537Ala)
c.2072A>C (p.Glu691Ala)
c.2006A>C (p.Glu669Ala)
c.1964A>C (p.Glu655Ala)
c.1037A>C (p.Glu346Ala)
20g.63407243C>ACA409639167KCNQ2c.2074G>T (p.Glu692Ter)
c.2020G>T (p.Glu674Ter)
c.1417G>T (p.Glu473Ter)
c.1927G>T (p.Glu643Ter)
c.1588G>T (p.Glu530Ter)
c.1936G>T (p.Glu646Ter)
c.2044G>T (p.Glu682Ter)
c.2008G>T (p.Glu670Ter)
c.1966G>T (p.Glu656Ter)
c.1679+6207G>T (n.1679+6207G>T)
c.2062G>T (p.Glu688Ter)
c.2128G>T (p.Glu710Ter)
c.2125G>T (p.Glu709Ter)
c.2098G>T (p.Glu700Ter)
c.2017G>T (p.Glu673Ter)
c.2002G>T (p.Glu668Ter)
c.1609G>T (p.Glu537Ter)
c.2071G>T (p.Glu691Ter)
c.2005G>T (p.Glu669Ter)
c.1963G>T (p.Glu655Ter)
c.1036G>T (p.Glu346Ter)
 gnomAD v4
20g.63407243C>GCA409639168KCNQ2c.2074G>C (p.Glu692Gln)
c.2020G>C (p.Glu674Gln)
c.1417G>C (p.Glu473Gln)
c.1927G>C (p.Glu643Gln)
c.1588G>C (p.Glu530Gln)
c.1936G>C (p.Glu646Gln)
c.2044G>C (p.Glu682Gln)
c.2008G>C (p.Glu670Gln)
c.1966G>C (p.Glu656Gln)
c.1679+6207G>C (n.1679+6207G>C)
c.2062G>C (p.Glu688Gln)
c.2128G>C (p.Glu710Gln)
c.2125G>C (p.Glu709Gln)
c.2098G>C (p.Glu700Gln)
c.2017G>C (p.Glu673Gln)
c.2002G>C (p.Glu668Gln)
c.1609G>C (p.Glu537Gln)
c.2071G>C (p.Glu691Gln)
c.2005G>C (p.Glu669Gln)
c.1963G>C (p.Glu655Gln)
c.1036G>C (p.Glu346Gln)
 ClinVar
20g.63407243C>TCA409639169KCNQ2c.2074G>A (p.Glu692Lys)
c.2020G>A (p.Glu674Lys)
c.1417G>A (p.Glu473Lys)
c.1927G>A (p.Glu643Lys)
c.1588G>A (p.Glu530Lys)
c.1936G>A (p.Glu646Lys)
c.2044G>A (p.Glu682Lys)
c.2008G>A (p.Glu670Lys)
c.1966G>A (p.Glu656Lys)
c.1679+6207G>A (n.1679+6207G>A)
c.2062G>A (p.Glu688Lys)
c.2128G>A (p.Glu710Lys)
c.2125G>A (p.Glu709Lys)
c.2098G>A (p.Glu700Lys)
c.2017G>A (p.Glu673Lys)
c.2002G>A (p.Glu668Lys)
c.1609G>A (p.Glu537Lys)
c.2071G>A (p.Glu691Lys)
c.2005G>A (p.Glu669Lys)
c.1963G>A (p.Glu655Lys)
c.1036G>A (p.Glu346Lys)
 gnomAD v4
20g.63407244C>ACA511339439KCNQ2c.2073G>T (p.Pro691=)
c.2019G>T (p.Pro673=)
c.1416G>T (p.Pro472=)
c.1926G>T (p.Pro642=)
c.1587G>T (p.Pro529=)
c.1935G>T (p.Pro645=)
c.2043G>T (p.Pro681=)
c.2007G>T (p.Pro669=)
c.1965G>T (p.Pro655=)
c.1679+6206G>T (n.1679+6206G>T)
c.2061G>T (p.Pro687=)
c.2127G>T (p.Pro709=)
c.2124G>T (p.Pro708=)
c.2097G>T (p.Pro699=)
c.2016G>T (p.Pro672=)
c.2001G>T (p.Pro667=)
c.1608G>T (p.Pro536=)
c.2070G>T (p.Pro690=)
c.2004G>T (p.Pro668=)
c.1962G>T (p.Pro654=)
c.1035G>T (p.Pro345=)
 gnomAD v4
20g.63407244C=CA2374774506KCNQ2c.2073G= (p.Pro691=)
c.2019G= (p.Pro673=)
c.1416G= (p.Pro472=)
c.1926G= (p.Pro642=)
c.1587G= (p.Pro529=)
c.1935G= (p.Pro645=)
c.2043G= (p.Pro681=)
c.2007G= (p.Pro669=)
c.1965G= (p.Pro655=)
c.1679+6206G= (n.1679+6206G=)
c.2061G= (p.Pro687=)
c.2127G= (p.Pro709=)
c.2124G= (p.Pro708=)
c.2097G= (p.Pro699=)
c.2016G= (p.Pro672=)
c.2001G= (p.Pro667=)
c.1608G= (p.Pro536=)
c.2070G= (p.Pro690=)
c.2004G= (p.Pro668=)
c.1962G= (p.Pro654=)
c.1035G= (p.Pro345=)
20g.63407244C>GCA511339440KCNQ2c.2073G>C (p.Pro691=)
c.2019G>C (p.Pro673=)
c.1416G>C (p.Pro472=)
c.1926G>C (p.Pro642=)
c.1587G>C (p.Pro529=)
c.1935G>C (p.Pro645=)
c.2043G>C (p.Pro681=)
c.2007G>C (p.Pro669=)
c.1965G>C (p.Pro655=)
c.1679+6206G>C (n.1679+6206G>C)
c.2061G>C (p.Pro687=)
c.2127G>C (p.Pro709=)
c.2124G>C (p.Pro708=)
c.2097G>C (p.Pro699=)
c.2016G>C (p.Pro672=)
c.2001G>C (p.Pro667=)
c.1608G>C (p.Pro536=)
c.2070G>C (p.Pro690=)
c.2004G>C (p.Pro668=)
c.1962G>C (p.Pro654=)
c.1035G>C (p.Pro345=)
20g.63407244C>TCA9958170KCNQ2c.2073G>A (p.Pro691=)
c.2019G>A (p.Pro673=)
c.1416G>A (p.Pro472=)
c.1926G>A (p.Pro642=)
c.1587G>A (p.Pro529=)
c.1935G>A (p.Pro645=)
c.2043G>A (p.Pro681=)
c.2007G>A (p.Pro669=)
c.1965G>A (p.Pro655=)
c.1679+6206G>A (n.1679+6206G>A)
c.2061G>A (p.Pro687=)
c.2127G>A (p.Pro709=)
c.2124G>A (p.Pro708=)
c.2097G>A (p.Pro699=)
c.2016G>A (p.Pro672=)
c.2001G>A (p.Pro667=)
c.1608G>A (p.Pro536=)
c.2070G>A (p.Pro690=)
c.2004G>A (p.Pro668=)
c.1962G>A (p.Pro654=)
c.1035G>A (p.Pro345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407245G>ACA409639170KCNQ2c.2072C>T (p.Pro691Leu)
c.2018C>T (p.Pro673Leu)
c.1415C>T (p.Pro472Leu)
c.1925C>T (p.Pro642Leu)
c.1586C>T (p.Pro529Leu)
c.1934C>T (p.Pro645Leu)
c.2042C>T (p.Pro681Leu)
c.2006C>T (p.Pro669Leu)
c.1964C>T (p.Pro655Leu)
c.1679+6205C>T (n.1679+6205C>T)
c.2060C>T (p.Pro687Leu)
c.2126C>T (p.Pro709Leu)
c.2123C>T (p.Pro708Leu)
c.2096C>T (p.Pro699Leu)
c.2015C>T (p.Pro672Leu)
c.2000C>T (p.Pro667Leu)
c.1607C>T (p.Pro536Leu)
c.2069C>T (p.Pro690Leu)
c.2003C>T (p.Pro668Leu)
c.1961C>T (p.Pro654Leu)
c.1034C>T (p.Pro345Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63407245G>CCA409639171KCNQ2c.2072C>G (p.Pro691Arg)
c.2018C>G (p.Pro673Arg)
c.1415C>G (p.Pro472Arg)
c.1925C>G (p.Pro642Arg)
c.1586C>G (p.Pro529Arg)
c.1934C>G (p.Pro645Arg)
c.2042C>G (p.Pro681Arg)
c.2006C>G (p.Pro669Arg)
c.1964C>G (p.Pro655Arg)
c.1679+6205C>G (n.1679+6205C>G)
c.2060C>G (p.Pro687Arg)
c.2126C>G (p.Pro709Arg)
c.2123C>G (p.Pro708Arg)
c.2096C>G (p.Pro699Arg)
c.2015C>G (p.Pro672Arg)
c.2000C>G (p.Pro667Arg)
c.1607C>G (p.Pro536Arg)
c.2069C>G (p.Pro690Arg)
c.2003C>G (p.Pro668Arg)
c.1961C>G (p.Pro654Arg)
c.1034C>G (p.Pro345Arg)
20g.63407245G=CA2374774507KCNQ2c.2072C= (p.Pro691=)
c.2018C= (p.Pro673=)
c.1415C= (p.Pro472=)
c.1925C= (p.Pro642=)
c.1586C= (p.Pro529=)
c.1934C= (p.Pro645=)
c.2042C= (p.Pro681=)
c.2006C= (p.Pro669=)
c.1964C= (p.Pro655=)
c.1679+6205C= (n.1679+6205C=)
c.2060C= (p.Pro687=)
c.2126C= (p.Pro709=)
c.2123C= (p.Pro708=)
c.2096C= (p.Pro699=)
c.2015C= (p.Pro672=)
c.2000C= (p.Pro667=)
c.1607C= (p.Pro536=)
c.2069C= (p.Pro690=)
c.2003C= (p.Pro668=)
c.1961C= (p.Pro654=)
c.1034C= (p.Pro345=)
20g.63407245G>TCA409639172KCNQ2c.2072C>A (p.Pro691Gln)
c.2018C>A (p.Pro673Gln)
c.1415C>A (p.Pro472Gln)
c.1925C>A (p.Pro642Gln)
c.1586C>A (p.Pro529Gln)
c.1934C>A (p.Pro645Gln)
c.2042C>A (p.Pro681Gln)
c.2006C>A (p.Pro669Gln)
c.1964C>A (p.Pro655Gln)
c.1679+6205C>A (n.1679+6205C>A)
c.2060C>A (p.Pro687Gln)
c.2126C>A (p.Pro709Gln)
c.2123C>A (p.Pro708Gln)
c.2096C>A (p.Pro699Gln)
c.2015C>A (p.Pro672Gln)
c.2000C>A (p.Pro667Gln)
c.1607C>A (p.Pro536Gln)
c.2069C>A (p.Pro690Gln)
c.2003C>A (p.Pro668Gln)
c.1961C>A (p.Pro654Gln)
c.1034C>A (p.Pro345Gln)
 gnomAD v4
20g.63407246G>ACA409639173KCNQ2c.2071C>T (p.Pro691Ser)
c.2017C>T (p.Pro673Ser)
c.1414C>T (p.Pro472Ser)
c.1924C>T (p.Pro642Ser)
c.1585C>T (p.Pro529Ser)
c.1933C>T (p.Pro645Ser)
c.2041C>T (p.Pro681Ser)
c.2005C>T (p.Pro669Ser)
c.1963C>T (p.Pro655Ser)
c.1679+6204C>T (n.1679+6204C>T)
c.2059C>T (p.Pro687Ser)
c.2125C>T (p.Pro709Ser)
c.2122C>T (p.Pro708Ser)
c.2095C>T (p.Pro699Ser)
c.2014C>T (p.Pro672Ser)
c.1999C>T (p.Pro667Ser)
c.1606C>T (p.Pro536Ser)
c.2068C>T (p.Pro690Ser)
c.2002C>T (p.Pro668Ser)
c.1960C>T (p.Pro654Ser)
c.1033C>T (p.Pro345Ser)
20g.63407246G>CCA409639174KCNQ2c.2071C>G (p.Pro691Ala)
c.2017C>G (p.Pro673Ala)
c.1414C>G (p.Pro472Ala)
c.1924C>G (p.Pro642Ala)
c.1585C>G (p.Pro529Ala)
c.1933C>G (p.Pro645Ala)
c.2041C>G (p.Pro681Ala)
c.2005C>G (p.Pro669Ala)
c.1963C>G (p.Pro655Ala)
c.1679+6204C>G (n.1679+6204C>G)
c.2059C>G (p.Pro687Ala)
c.2125C>G (p.Pro709Ala)
c.2122C>G (p.Pro708Ala)
c.2095C>G (p.Pro699Ala)
c.2014C>G (p.Pro672Ala)
c.1999C>G (p.Pro667Ala)
c.1606C>G (p.Pro536Ala)
c.2068C>G (p.Pro690Ala)
c.2002C>G (p.Pro668Ala)
c.1960C>G (p.Pro654Ala)
c.1033C>G (p.Pro345Ala)
20g.63407246G>TCA409639175KCNQ2c.2071C>A (p.Pro691Thr)
c.2017C>A (p.Pro673Thr)
c.1414C>A (p.Pro472Thr)
c.1924C>A (p.Pro642Thr)
c.1585C>A (p.Pro529Thr)
c.1933C>A (p.Pro645Thr)
c.2041C>A (p.Pro681Thr)
c.2005C>A (p.Pro669Thr)
c.1963C>A (p.Pro655Thr)
c.1679+6204C>A (n.1679+6204C>A)
c.2059C>A (p.Pro687Thr)
c.2125C>A (p.Pro709Thr)
c.2122C>A (p.Pro708Thr)
c.2095C>A (p.Pro699Thr)
c.2014C>A (p.Pro672Thr)
c.1999C>A (p.Pro667Thr)
c.1606C>A (p.Pro536Thr)
c.2068C>A (p.Pro690Thr)
c.2002C>A (p.Pro668Thr)
c.1960C>A (p.Pro654Thr)
c.1033C>A (p.Pro345Thr)
 gnomAD v4
20g.63407247G>ACA511339441KCNQ2c.2070C>T (p.Ser690=)
c.2016C>T (p.Ser672=)
c.1413C>T (p.Ser471=)
c.1923C>T (p.Ser641=)
c.1584C>T (p.Ser528=)
c.1932C>T (p.Ser644=)
c.2040C>T (p.Ser680=)
c.2004C>T (p.Ser668=)
c.1962C>T (p.Ser654=)
c.1679+6203C>T (n.1679+6203C>T)
c.2058C>T (p.Ser686=)
c.2124C>T (p.Ser708=)
c.2121C>T (p.Ser707=)
c.2094C>T (p.Ser698=)
c.2013C>T (p.Ser671=)
c.1998C>T (p.Ser666=)
c.1605C>T (p.Ser535=)
c.2067C>T (p.Ser689=)
c.2001C>T (p.Ser667=)
c.1959C>T (p.Ser653=)
c.1032C>T (p.Ser344=)
 gnomAD v4
20g.63407247G>CCA409639176KCNQ2c.2070C>G (p.Ser690Arg)
c.2016C>G (p.Ser672Arg)
c.1413C>G (p.Ser471Arg)
c.1923C>G (p.Ser641Arg)
c.1584C>G (p.Ser528Arg)
c.1932C>G (p.Ser644Arg)
c.2040C>G (p.Ser680Arg)
c.2004C>G (p.Ser668Arg)
c.1962C>G (p.Ser654Arg)
c.1679+6203C>G (n.1679+6203C>G)
c.2058C>G (p.Ser686Arg)
c.2124C>G (p.Ser708Arg)
c.2121C>G (p.Ser707Arg)
c.2094C>G (p.Ser698Arg)
c.2013C>G (p.Ser671Arg)
c.1998C>G (p.Ser666Arg)
c.1605C>G (p.Ser535Arg)
c.2067C>G (p.Ser689Arg)
c.2001C>G (p.Ser667Arg)
c.1959C>G (p.Ser653Arg)
c.1032C>G (p.Ser344Arg)
20g.63407247G>TCA409639177KCNQ2c.2070C>A (p.Ser690Arg)
c.2016C>A (p.Ser672Arg)
c.1413C>A (p.Ser471Arg)
c.1923C>A (p.Ser641Arg)
c.1584C>A (p.Ser528Arg)
c.1932C>A (p.Ser644Arg)
c.2040C>A (p.Ser680Arg)
c.2004C>A (p.Ser668Arg)
c.1962C>A (p.Ser654Arg)
c.1679+6203C>A (n.1679+6203C>A)
c.2058C>A (p.Ser686Arg)
c.2124C>A (p.Ser708Arg)
c.2121C>A (p.Ser707Arg)
c.2094C>A (p.Ser698Arg)
c.2013C>A (p.Ser671Arg)
c.1998C>A (p.Ser666Arg)
c.1605C>A (p.Ser535Arg)
c.2067C>A (p.Ser689Arg)
c.2001C>A (p.Ser667Arg)
c.1959C>A (p.Ser653Arg)
c.1032C>A (p.Ser344Arg)
 gnomAD v4
20g.63407247_63407248delinsGCCA2374774508KCNQ2c.2069_2070delinsGC (p.Ser690=)
c.2015_2016delinsGC (p.Ser672=)
c.1412_1413delinsGC (p.Ser471=)
c.1922_1923delinsGC (p.Ser641=)
c.1583_1584delinsGC (p.Ser528=)
c.1931_1932delinsGC (p.Ser644=)
c.2039_2040delinsGC (p.Ser680=)
c.2003_2004delinsGC (p.Ser668=)
c.1961_1962delinsGC (p.Ser654=)
c.1679+6202_1679+6203delinsGC (n.1679+6202_1679+6203delinsGC)
c.2057_2058delinsGC (p.Ser686=)
c.2123_2124delinsGC (p.Ser708=)
c.2120_2121delinsGC (p.Ser707=)
c.2093_2094delinsGC (p.Ser698=)
c.2012_2013delinsGC (p.Ser671=)
c.1997_1998delinsGC (p.Ser666=)
c.1604_1605delinsGC (p.Ser535=)
c.2066_2067delinsGC (p.Ser689=)
c.2000_2001delinsGC (p.Ser667=)
c.1958_1959delinsGC (p.Ser653=)
c.1031_1032delinsGC (p.Ser344=)
20g.63407248delCA342488KCNQ2c.2069del (p.Ser690ThrfsTer?)
c.2015del (p.Ser672ThrfsTer?)
c.1412del (p.Ser471ThrfsTer?)
c.1922del (p.Ser641ThrfsTer?)
c.1583del (p.Ser528ThrfsTer?)
c.1931del (p.Ser644ThrfsTer?)
c.2039del (p.Ser680ThrfsTer?)
c.2003del (p.Ser668ThrfsTer?)
c.1961del (p.Ser654ThrfsTer?)
c.1679+6202del (n.1679+6202del)
c.2057del (p.Ser686ThrfsTer?)
c.2123del (p.Ser708ThrfsTer?)
c.2120del (p.Ser707ThrfsTer?)
c.2093del (p.Ser698ThrfsTer?)
c.2012del (p.Ser671ThrfsTer?)
c.1997del (p.Ser666ThrfsTer?)
c.1604del (p.Ser535ThrfsTer?)
c.2066del (p.Ser689ThrfsTer?)
c.2000del (p.Ser667ThrfsTer?)
c.1958del (p.Ser653ThrfsTer?)
c.1031del (p.Ser344ThrfsTer?)
 ClinVar dbSNP
20g.63407248C>ACA409639180KCNQ2c.2069G>T (p.Ser690Ile)
c.2015G>T (p.Ser672Ile)
c.1412G>T (p.Ser471Ile)
c.1922G>T (p.Ser641Ile)
c.1583G>T (p.Ser528Ile)
c.1931G>T (p.Ser644Ile)
c.2039G>T (p.Ser680Ile)
c.2003G>T (p.Ser668Ile)
c.1961G>T (p.Ser654Ile)
c.1679+6202G>T (n.1679+6202G>T)
c.2057G>T (p.Ser686Ile)
c.2123G>T (p.Ser708Ile)
c.2120G>T (p.Ser707Ile)
c.2093G>T (p.Ser698Ile)
c.2012G>T (p.Ser671Ile)
c.1997G>T (p.Ser666Ile)
c.1604G>T (p.Ser535Ile)
c.2066G>T (p.Ser689Ile)
c.2000G>T (p.Ser667Ile)
c.1958G>T (p.Ser653Ile)
c.1031G>T (p.Ser344Ile)
 gnomAD v4
20g.63407248C=CA2374774509KCNQ2c.2069G= (p.Ser690=)
c.2015G= (p.Ser672=)
c.1412G= (p.Ser471=)
c.1922G= (p.Ser641=)
c.1583G= (p.Ser528=)
c.1931G= (p.Ser644=)
c.2039G= (p.Ser680=)
c.2003G= (p.Ser668=)
c.1961G= (p.Ser654=)
c.1679+6202G= (n.1679+6202G=)
c.2057G= (p.Ser686=)
c.2123G= (p.Ser708=)
c.2120G= (p.Ser707=)
c.2093G= (p.Ser698=)
c.2012G= (p.Ser671=)
c.1997G= (p.Ser666=)
c.1604G= (p.Ser535=)
c.2066G= (p.Ser689=)
c.2000G= (p.Ser667=)
c.1958G= (p.Ser653=)
c.1031G= (p.Ser344=)
20g.63407248C>GCA409639179KCNQ2c.2069G>C (p.Ser690Thr)
c.2015G>C (p.Ser672Thr)
c.1412G>C (p.Ser471Thr)
c.1922G>C (p.Ser641Thr)
c.1583G>C (p.Ser528Thr)
c.1931G>C (p.Ser644Thr)
c.2039G>C (p.Ser680Thr)
c.2003G>C (p.Ser668Thr)
c.1961G>C (p.Ser654Thr)
c.1679+6202G>C (n.1679+6202G>C)
c.2057G>C (p.Ser686Thr)
c.2123G>C (p.Ser708Thr)
c.2120G>C (p.Ser707Thr)
c.2093G>C (p.Ser698Thr)
c.2012G>C (p.Ser671Thr)
c.1997G>C (p.Ser666Thr)
c.1604G>C (p.Ser535Thr)
c.2066G>C (p.Ser689Thr)
c.2000G>C (p.Ser667Thr)
c.1958G>C (p.Ser653Thr)
c.1031G>C (p.Ser344Thr)
20g.63407248C>TCA409639178KCNQ2c.2069G>A (p.Ser690Asn)
c.2015G>A (p.Ser672Asn)
c.1412G>A (p.Ser471Asn)
c.1922G>A (p.Ser641Asn)
c.1583G>A (p.Ser528Asn)
c.1931G>A (p.Ser644Asn)
c.2039G>A (p.Ser680Asn)
c.2003G>A (p.Ser668Asn)
c.1961G>A (p.Ser654Asn)
c.1679+6202G>A (n.1679+6202G>A)
c.2057G>A (p.Ser686Asn)
c.2123G>A (p.Ser708Asn)
c.2120G>A (p.Ser707Asn)
c.2093G>A (p.Ser698Asn)
c.2012G>A (p.Ser671Asn)
c.1997G>A (p.Ser666Asn)
c.1604G>A (p.Ser535Asn)
c.2066G>A (p.Ser689Asn)
c.2000G>A (p.Ser667Asn)
c.1958G>A (p.Ser653Asn)
c.1031G>A (p.Ser344Asn)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.63407249T>ACA409639183KCNQ2c.2068A>T (p.Ser690Cys)
c.2014A>T (p.Ser672Cys)
c.1411A>T (p.Ser471Cys)
c.1921A>T (p.Ser641Cys)
c.1582A>T (p.Ser528Cys)
c.1930A>T (p.Ser644Cys)
c.2038A>T (p.Ser680Cys)
c.2002A>T (p.Ser668Cys)
c.1960A>T (p.Ser654Cys)
c.1679+6201A>T (n.1679+6201A>T)
c.2056A>T (p.Ser686Cys)
c.2122A>T (p.Ser708Cys)
c.2119A>T (p.Ser707Cys)
c.2092A>T (p.Ser698Cys)
c.2011A>T (p.Ser671Cys)
c.1996A>T (p.Ser666Cys)
c.1603A>T (p.Ser535Cys)
c.2065A>T (p.Ser689Cys)
c.1999A>T (p.Ser667Cys)
c.1957A>T (p.Ser653Cys)
c.1030A>T (p.Ser344Cys)
20g.63407249T>CCA409639181KCNQ2c.2068A>G (p.Ser690Gly)
c.2014A>G (p.Ser672Gly)
c.1411A>G (p.Ser471Gly)
c.1921A>G (p.Ser641Gly)
c.1582A>G (p.Ser528Gly)
c.1930A>G (p.Ser644Gly)
c.2038A>G (p.Ser680Gly)
c.2002A>G (p.Ser668Gly)
c.1960A>G (p.Ser654Gly)
c.1679+6201A>G (n.1679+6201A>G)
c.2056A>G (p.Ser686Gly)
c.2122A>G (p.Ser708Gly)
c.2119A>G (p.Ser707Gly)
c.2092A>G (p.Ser698Gly)
c.2011A>G (p.Ser671Gly)
c.1996A>G (p.Ser666Gly)
c.1603A>G (p.Ser535Gly)
c.2065A>G (p.Ser689Gly)
c.1999A>G (p.Ser667Gly)
c.1957A>G (p.Ser653Gly)
c.1030A>G (p.Ser344Gly)
 gnomAD v4
20g.63407249T>GCA409639182KCNQ2c.2068A>C (p.Ser690Arg)
c.2014A>C (p.Ser672Arg)
c.1411A>C (p.Ser471Arg)
c.1921A>C (p.Ser641Arg)
c.1582A>C (p.Ser528Arg)
c.1930A>C (p.Ser644Arg)
c.2038A>C (p.Ser680Arg)
c.2002A>C (p.Ser668Arg)
c.1960A>C (p.Ser654Arg)
c.1679+6201A>C (n.1679+6201A>C)
c.2056A>C (p.Ser686Arg)
c.2122A>C (p.Ser708Arg)
c.2119A>C (p.Ser707Arg)
c.2092A>C (p.Ser698Arg)
c.2011A>C (p.Ser671Arg)
c.1996A>C (p.Ser666Arg)
c.1603A>C (p.Ser535Arg)
c.2065A>C (p.Ser689Arg)
c.1999A>C (p.Ser667Arg)
c.1957A>C (p.Ser653Arg)
c.1030A>C (p.Ser344Arg)
20g.63407250G>ACA511339442KCNQ2c.2067C>T (p.His689=)
c.2013C>T (p.His671=)
c.1410C>T (p.His470=)
c.1920C>T (p.His640=)
c.1581C>T (p.His527=)
c.1929C>T (p.His643=)
c.2037C>T (p.His679=)
c.2001C>T (p.His667=)
c.1959C>T (p.His653=)
c.1679+6200C>T (n.1679+6200C>T)
c.2055C>T (p.His685=)
c.2121C>T (p.His707=)
c.2118C>T (p.His706=)
c.2091C>T (p.His697=)
c.2010C>T (p.His670=)
c.1995C>T (p.His665=)
c.1602C>T (p.His534=)
c.2064C>T (p.His688=)
c.1998C>T (p.His666=)
c.1956C>T (p.His652=)
c.1029C>T (p.His343=)
 gnomAD v4
20g.63407250G>CCA409639184KCNQ2c.2067C>G (p.His689Gln)
c.2013C>G (p.His671Gln)
c.1410C>G (p.His470Gln)
c.1920C>G (p.His640Gln)
c.1581C>G (p.His527Gln)
c.1929C>G (p.His643Gln)
c.2037C>G (p.His679Gln)
c.2001C>G (p.His667Gln)
c.1959C>G (p.His653Gln)
c.1679+6200C>G (n.1679+6200C>G)
c.2055C>G (p.His685Gln)
c.2121C>G (p.His707Gln)
c.2118C>G (p.His706Gln)
c.2091C>G (p.His697Gln)
c.2010C>G (p.His670Gln)
c.1995C>G (p.His665Gln)
c.1602C>G (p.His534Gln)
c.2064C>G (p.His688Gln)
c.1998C>G (p.His666Gln)
c.1956C>G (p.His652Gln)
c.1029C>G (p.His343Gln)
20g.63407250G>TCA409639185KCNQ2c.2067C>A (p.His689Gln)
c.2013C>A (p.His671Gln)
c.1410C>A (p.His470Gln)
c.1920C>A (p.His640Gln)
c.1581C>A (p.His527Gln)
c.1929C>A (p.His643Gln)
c.2037C>A (p.His679Gln)
c.2001C>A (p.His667Gln)
c.1959C>A (p.His653Gln)
c.1679+6200C>A (n.1679+6200C>A)
c.2055C>A (p.His685Gln)
c.2121C>A (p.His707Gln)
c.2118C>A (p.His706Gln)
c.2091C>A (p.His697Gln)
c.2010C>A (p.His670Gln)
c.1995C>A (p.His665Gln)
c.1602C>A (p.His534Gln)
c.2064C>A (p.His688Gln)
c.1998C>A (p.His666Gln)
c.1956C>A (p.His652Gln)
c.1029C>A (p.His343Gln)
 gnomAD v4
20g.63407251T>ACA409639186KCNQ2c.2066A>T (p.His689Leu)
c.2012A>T (p.His671Leu)
c.1409A>T (p.His470Leu)
c.1919A>T (p.His640Leu)
c.1580A>T (p.His527Leu)
c.1928A>T (p.His643Leu)
c.2036A>T (p.His679Leu)
c.2000A>T (p.His667Leu)
c.1958A>T (p.His653Leu)
c.1679+6199A>T (n.1679+6199A>T)
c.2054A>T (p.His685Leu)
c.2120A>T (p.His707Leu)
c.2117A>T (p.His706Leu)
c.2090A>T (p.His697Leu)
c.2009A>T (p.His670Leu)
c.1994A>T (p.His665Leu)
c.1601A>T (p.His534Leu)
c.2063A>T (p.His688Leu)
c.1997A>T (p.His666Leu)
c.1955A>T (p.His652Leu)
c.1028A>T (p.His343Leu)
20g.63407251T>CCA409639187KCNQ2c.2066A>G (p.His689Arg)
c.2012A>G (p.His671Arg)
c.1409A>G (p.His470Arg)
c.1919A>G (p.His640Arg)
c.1580A>G (p.His527Arg)
c.1928A>G (p.His643Arg)
c.2036A>G (p.His679Arg)
c.2000A>G (p.His667Arg)
c.1958A>G (p.His653Arg)
c.1679+6199A>G (n.1679+6199A>G)
c.2054A>G (p.His685Arg)
c.2120A>G (p.His707Arg)
c.2117A>G (p.His706Arg)
c.2090A>G (p.His697Arg)
c.2009A>G (p.His670Arg)
c.1994A>G (p.His665Arg)
c.1601A>G (p.His534Arg)
c.2063A>G (p.His688Arg)
c.1997A>G (p.His666Arg)
c.1955A>G (p.His652Arg)
c.1028A>G (p.His343Arg)
20g.63407251T>GCA409639188KCNQ2c.2066A>C (p.His689Pro)
c.2012A>C (p.His671Pro)
c.1409A>C (p.His470Pro)
c.1919A>C (p.His640Pro)
c.1580A>C (p.His527Pro)
c.1928A>C (p.His643Pro)
c.2036A>C (p.His679Pro)
c.2000A>C (p.His667Pro)
c.1958A>C (p.His653Pro)
c.1679+6199A>C (n.1679+6199A>C)
c.2054A>C (p.His685Pro)
c.2120A>C (p.His707Pro)
c.2117A>C (p.His706Pro)
c.2090A>C (p.His697Pro)
c.2009A>C (p.His670Pro)
c.1994A>C (p.His665Pro)
c.1601A>C (p.His534Pro)
c.2063A>C (p.His688Pro)
c.1997A>C (p.His666Pro)
c.1955A>C (p.His652Pro)
c.1028A>C (p.His343Pro)
 gnomAD v4
20g.63407252G>ACA409639189KCNQ2c.2065C>T (p.His689Tyr)
c.2011C>T (p.His671Tyr)
c.1408C>T (p.His470Tyr)
c.1918C>T (p.His640Tyr)
c.1579C>T (p.His527Tyr)
c.1927C>T (p.His643Tyr)
c.2035C>T (p.His679Tyr)
c.1999C>T (p.His667Tyr)
c.1957C>T (p.His653Tyr)
c.1679+6198C>T (n.1679+6198C>T)
c.2053C>T (p.His685Tyr)
c.2119C>T (p.His707Tyr)
c.2116C>T (p.His706Tyr)
c.2089C>T (p.His697Tyr)
c.2008C>T (p.His670Tyr)
c.1993C>T (p.His665Tyr)
c.1600C>T (p.His534Tyr)
c.2062C>T (p.His688Tyr)
c.1996C>T (p.His666Tyr)
c.1954C>T (p.His652Tyr)
c.1027C>T (p.His343Tyr)
20g.63407252G>CCA409639190KCNQ2c.2065C>G (p.His689Asp)
c.2011C>G (p.His671Asp)
c.1408C>G (p.His470Asp)
c.1918C>G (p.His640Asp)
c.1579C>G (p.His527Asp)
c.1927C>G (p.His643Asp)
c.2035C>G (p.His679Asp)
c.1999C>G (p.His667Asp)
c.1957C>G (p.His653Asp)
c.1679+6198C>G (n.1679+6198C>G)
c.2053C>G (p.His685Asp)
c.2119C>G (p.His707Asp)
c.2116C>G (p.His706Asp)
c.2089C>G (p.His697Asp)
c.2008C>G (p.His670Asp)
c.1993C>G (p.His665Asp)
c.1600C>G (p.His534Asp)
c.2062C>G (p.His688Asp)
c.1996C>G (p.His666Asp)
c.1954C>G (p.His652Asp)
c.1027C>G (p.His343Asp)
20g.63407252G>TCA409639191KCNQ2c.2065C>A (p.His689Asn)
c.2011C>A (p.His671Asn)
c.1408C>A (p.His470Asn)
c.1918C>A (p.His640Asn)
c.1579C>A (p.His527Asn)
c.1927C>A (p.His643Asn)
c.2035C>A (p.His679Asn)
c.1999C>A (p.His667Asn)
c.1957C>A (p.His653Asn)
c.1679+6198C>A (n.1679+6198C>A)
c.2053C>A (p.His685Asn)
c.2119C>A (p.His707Asn)
c.2116C>A (p.His706Asn)
c.2089C>A (p.His697Asn)
c.2008C>A (p.His670Asn)
c.1993C>A (p.His665Asn)
c.1600C>A (p.His534Asn)
c.2062C>A (p.His688Asn)
c.1996C>A (p.His666Asn)
c.1954C>A (p.His652Asn)
c.1027C>A (p.His343Asn)
 gnomAD v4
20g.63407253G>ACA9958171KCNQ2c.2064C>T (p.Tyr688=)
c.2010C>T (p.Tyr670=)
c.1407C>T (p.Tyr469=)
c.1917C>T (p.Tyr639=)
c.1578C>T (p.Tyr526=)
c.1926C>T (p.Tyr642=)
c.2034C>T (p.Tyr678=)
c.1998C>T (p.Tyr666=)
c.1956C>T (p.Tyr652=)
c.1679+6197C>T (n.1679+6197C>T)
c.2052C>T (p.Tyr684=)
c.2118C>T (p.Tyr706=)
c.2115C>T (p.Tyr705=)
c.2088C>T (p.Tyr696=)
c.2007C>T (p.Tyr669=)
c.1992C>T (p.Tyr664=)
c.1599C>T (p.Tyr533=)
c.2061C>T (p.Tyr687=)
c.1995C>T (p.Tyr665=)
c.1953C>T (p.Tyr651=)
c.1026C>T (p.Tyr342=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407253G>CCA409639192KCNQ2c.2064C>G (p.Tyr688Ter)
c.2010C>G (p.Tyr670Ter)
c.1407C>G (p.Tyr469Ter)
c.1917C>G (p.Tyr639Ter)
c.1578C>G (p.Tyr526Ter)
c.1926C>G (p.Tyr642Ter)
c.2034C>G (p.Tyr678Ter)
c.1998C>G (p.Tyr666Ter)
c.1956C>G (p.Tyr652Ter)
c.1679+6197C>G (n.1679+6197C>G)
c.2052C>G (p.Tyr684Ter)
c.2118C>G (p.Tyr706Ter)
c.2115C>G (p.Tyr705Ter)
c.2088C>G (p.Tyr696Ter)
c.2007C>G (p.Tyr669Ter)
c.1992C>G (p.Tyr664Ter)
c.1599C>G (p.Tyr533Ter)
c.2061C>G (p.Tyr687Ter)
c.1995C>G (p.Tyr665Ter)
c.1953C>G (p.Tyr651Ter)
c.1026C>G (p.Tyr342Ter)
20g.63407253G=CA2374774510KCNQ2c.2064C= (p.Tyr688=)
c.2010C= (p.Tyr670=)
c.1407C= (p.Tyr469=)
c.1917C= (p.Tyr639=)
c.1578C= (p.Tyr526=)
c.1926C= (p.Tyr642=)
c.2034C= (p.Tyr678=)
c.1998C= (p.Tyr666=)
c.1956C= (p.Tyr652=)
c.1679+6197C= (n.1679+6197C=)
c.2052C= (p.Tyr684=)
c.2118C= (p.Tyr706=)
c.2115C= (p.Tyr705=)
c.2088C= (p.Tyr696=)
c.2007C= (p.Tyr669=)
c.1992C= (p.Tyr664=)
c.1599C= (p.Tyr533=)
c.2061C= (p.Tyr687=)
c.1995C= (p.Tyr665=)
c.1953C= (p.Tyr651=)
c.1026C= (p.Tyr342=)
20g.63407253G>TCA409639193KCNQ2c.2064C>A (p.Tyr688Ter)
c.2010C>A (p.Tyr670Ter)
c.1407C>A (p.Tyr469Ter)
c.1917C>A (p.Tyr639Ter)
c.1578C>A (p.Tyr526Ter)
c.1926C>A (p.Tyr642Ter)
c.2034C>A (p.Tyr678Ter)
c.1998C>A (p.Tyr666Ter)
c.1956C>A (p.Tyr652Ter)
c.1679+6197C>A (n.1679+6197C>A)
c.2052C>A (p.Tyr684Ter)
c.2118C>A (p.Tyr706Ter)
c.2115C>A (p.Tyr705Ter)
c.2088C>A (p.Tyr696Ter)
c.2007C>A (p.Tyr669Ter)
c.1992C>A (p.Tyr664Ter)
c.1599C>A (p.Tyr533Ter)
c.2061C>A (p.Tyr687Ter)
c.1995C>A (p.Tyr665Ter)
c.1953C>A (p.Tyr651Ter)
c.1026C>A (p.Tyr342Ter)
 gnomAD v4
20g.63407254T>ACA409639196KCNQ2c.2063A>T (p.Tyr688Phe)
c.2009A>T (p.Tyr670Phe)
c.1406A>T (p.Tyr469Phe)
c.1916A>T (p.Tyr639Phe)
c.1577A>T (p.Tyr526Phe)
c.1925A>T (p.Tyr642Phe)
c.2033A>T (p.Tyr678Phe)
c.1997A>T (p.Tyr666Phe)
c.1955A>T (p.Tyr652Phe)
c.1679+6196A>T (n.1679+6196A>T)
c.2051A>T (p.Tyr684Phe)
c.2117A>T (p.Tyr706Phe)
c.2114A>T (p.Tyr705Phe)
c.2087A>T (p.Tyr696Phe)
c.2006A>T (p.Tyr669Phe)
c.1991A>T (p.Tyr664Phe)
c.1598A>T (p.Tyr533Phe)
c.2060A>T (p.Tyr687Phe)
c.1994A>T (p.Tyr665Phe)
c.1952A>T (p.Tyr651Phe)
c.1025A>T (p.Tyr342Phe)
20g.63407254T>CCA409639194KCNQ2c.2063A>G (p.Tyr688Cys)
c.2009A>G (p.Tyr670Cys)
c.1406A>G (p.Tyr469Cys)
c.1916A>G (p.Tyr639Cys)
c.1577A>G (p.Tyr526Cys)
c.1925A>G (p.Tyr642Cys)
c.2033A>G (p.Tyr678Cys)
c.1997A>G (p.Tyr666Cys)
c.1955A>G (p.Tyr652Cys)
c.1679+6196A>G (n.1679+6196A>G)
c.2051A>G (p.Tyr684Cys)
c.2117A>G (p.Tyr706Cys)
c.2114A>G (p.Tyr705Cys)
c.2087A>G (p.Tyr696Cys)
c.2006A>G (p.Tyr669Cys)
c.1991A>G (p.Tyr664Cys)
c.1598A>G (p.Tyr533Cys)
c.2060A>G (p.Tyr687Cys)
c.1994A>G (p.Tyr665Cys)
c.1952A>G (p.Tyr651Cys)
c.1025A>G (p.Tyr342Cys)
 gnomAD v4
20g.63407254T>GCA409639195KCNQ2c.2063A>C (p.Tyr688Ser)
c.2009A>C (p.Tyr670Ser)
c.1406A>C (p.Tyr469Ser)
c.1916A>C (p.Tyr639Ser)
c.1577A>C (p.Tyr526Ser)
c.1925A>C (p.Tyr642Ser)
c.2033A>C (p.Tyr678Ser)
c.1997A>C (p.Tyr666Ser)
c.1955A>C (p.Tyr652Ser)
c.1679+6196A>C (n.1679+6196A>C)
c.2051A>C (p.Tyr684Ser)
c.2117A>C (p.Tyr706Ser)
c.2114A>C (p.Tyr705Ser)
c.2087A>C (p.Tyr696Ser)
c.2006A>C (p.Tyr669Ser)
c.1991A>C (p.Tyr664Ser)
c.1598A>C (p.Tyr533Ser)
c.2060A>C (p.Tyr687Ser)
c.1994A>C (p.Tyr665Ser)
c.1952A>C (p.Tyr651Ser)
c.1025A>C (p.Tyr342Ser)
20g.63407255A>CCA409639197KCNQ2c.2062T>G (p.Tyr688Asp)
c.2008T>G (p.Tyr670Asp)
c.1405T>G (p.Tyr469Asp)
c.1915T>G (p.Tyr639Asp)
c.1576T>G (p.Tyr526Asp)
c.1924T>G (p.Tyr642Asp)
c.2032T>G (p.Tyr678Asp)
c.1996T>G (p.Tyr666Asp)
c.1954T>G (p.Tyr652Asp)
c.1679+6195T>G (n.1679+6195T>G)
c.2050T>G (p.Tyr684Asp)
c.2116T>G (p.Tyr706Asp)
c.2113T>G (p.Tyr705Asp)
c.2086T>G (p.Tyr696Asp)
c.2005T>G (p.Tyr669Asp)
c.1990T>G (p.Tyr664Asp)
c.1597T>G (p.Tyr533Asp)
c.2059T>G (p.Tyr687Asp)
c.1993T>G (p.Tyr665Asp)
c.1951T>G (p.Tyr651Asp)
c.1024T>G (p.Tyr342Asp)
20g.63407255A>GCA409639198KCNQ2c.2062T>C (p.Tyr688His)
c.2008T>C (p.Tyr670His)
c.1405T>C (p.Tyr469His)
c.1915T>C (p.Tyr639His)
c.1576T>C (p.Tyr526His)
c.1924T>C (p.Tyr642His)
c.2032T>C (p.Tyr678His)
c.1996T>C (p.Tyr666His)
c.1954T>C (p.Tyr652His)
c.1679+6195T>C (n.1679+6195T>C)
c.2050T>C (p.Tyr684His)
c.2116T>C (p.Tyr706His)
c.2113T>C (p.Tyr705His)
c.2086T>C (p.Tyr696His)
c.2005T>C (p.Tyr669His)
c.1990T>C (p.Tyr664His)
c.1597T>C (p.Tyr533His)
c.2059T>C (p.Tyr687His)
c.1993T>C (p.Tyr665His)
c.1951T>C (p.Tyr651His)
c.1024T>C (p.Tyr342His)
20g.63407255A>TCA409639199KCNQ2c.2062T>A (p.Tyr688Asn)
c.2008T>A (p.Tyr670Asn)
c.1405T>A (p.Tyr469Asn)
c.1915T>A (p.Tyr639Asn)
c.1576T>A (p.Tyr526Asn)
c.1924T>A (p.Tyr642Asn)
c.2032T>A (p.Tyr678Asn)
c.1996T>A (p.Tyr666Asn)
c.1954T>A (p.Tyr652Asn)
c.1679+6195T>A (n.1679+6195T>A)
c.2050T>A (p.Tyr684Asn)
c.2116T>A (p.Tyr706Asn)
c.2113T>A (p.Tyr705Asn)
c.2086T>A (p.Tyr696Asn)
c.2005T>A (p.Tyr669Asn)
c.1990T>A (p.Tyr664Asn)
c.1597T>A (p.Tyr533Asn)
c.2059T>A (p.Tyr687Asn)
c.1993T>A (p.Tyr665Asn)
c.1951T>A (p.Tyr651Asn)
c.1024T>A (p.Tyr342Asn)
20g.63407256C>ACA511339443KCNQ2c.2061G>T (p.Pro687=)
c.2007G>T (p.Pro669=)
c.1404G>T (p.Pro468=)
c.1914G>T (p.Pro638=)
c.1575G>T (p.Pro525=)
c.1923G>T (p.Pro641=)
c.2031G>T (p.Pro677=)
c.1995G>T (p.Pro665=)
c.1953G>T (p.Pro651=)
c.1679+6194G>T (n.1679+6194G>T)
c.2049G>T (p.Pro683=)
c.2115G>T (p.Pro705=)
c.2112G>T (p.Pro704=)
c.2085G>T (p.Pro695=)
c.2004G>T (p.Pro668=)
c.1989G>T (p.Pro663=)
c.1596G>T (p.Pro532=)
c.2058G>T (p.Pro686=)
c.1992G>T (p.Pro664=)
c.1950G>T (p.Pro650=)
c.1023G>T (p.Pro341=)
 gnomAD v4
20g.63407256C=CA2374774511KCNQ2c.2061G= (p.Pro687=)
c.2007G= (p.Pro669=)
c.1404G= (p.Pro468=)
c.1914G= (p.Pro638=)
c.1575G= (p.Pro525=)
c.1923G= (p.Pro641=)
c.2031G= (p.Pro677=)
c.1995G= (p.Pro665=)
c.1953G= (p.Pro651=)
c.1679+6194G= (n.1679+6194G=)
c.2049G= (p.Pro683=)
c.2115G= (p.Pro705=)
c.2112G= (p.Pro704=)
c.2085G= (p.Pro695=)
c.2004G= (p.Pro668=)
c.1989G= (p.Pro663=)
c.1596G= (p.Pro532=)
c.2058G= (p.Pro686=)
c.1992G= (p.Pro664=)
c.1950G= (p.Pro650=)
c.1023G= (p.Pro341=)
20g.63407256C>GCA9958173KCNQ2c.2061G>C (p.Pro687=)
c.2007G>C (p.Pro669=)
c.1404G>C (p.Pro468=)
c.1914G>C (p.Pro638=)
c.1575G>C (p.Pro525=)
c.1923G>C (p.Pro641=)
c.2031G>C (p.Pro677=)
c.1995G>C (p.Pro665=)
c.1953G>C (p.Pro651=)
c.1679+6194G>C (n.1679+6194G>C)
c.2049G>C (p.Pro683=)
c.2115G>C (p.Pro705=)
c.2112G>C (p.Pro704=)
c.2085G>C (p.Pro695=)
c.2004G>C (p.Pro668=)
c.1989G>C (p.Pro663=)
c.1596G>C (p.Pro532=)
c.2058G>C (p.Pro686=)
c.1992G>C (p.Pro664=)
c.1950G>C (p.Pro650=)
c.1023G>C (p.Pro341=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407256C>TCA9958172KCNQ2c.2061G>A (p.Pro687=)
c.2007G>A (p.Pro669=)
c.1404G>A (p.Pro468=)
c.1914G>A (p.Pro638=)
c.1575G>A (p.Pro525=)
c.1923G>A (p.Pro641=)
c.2031G>A (p.Pro677=)
c.1995G>A (p.Pro665=)
c.1953G>A (p.Pro651=)
c.1679+6194G>A (n.1679+6194G>A)
c.2049G>A (p.Pro683=)
c.2115G>A (p.Pro705=)
c.2112G>A (p.Pro704=)
c.2085G>A (p.Pro695=)
c.2004G>A (p.Pro668=)
c.1989G>A (p.Pro663=)
c.1596G>A (p.Pro532=)
c.2058G>A (p.Pro686=)
c.1992G>A (p.Pro664=)
c.1950G>A (p.Pro650=)
c.1023G>A (p.Pro341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407257G>ACA9958174KCNQ2c.2060C>T (p.Pro687Leu)
c.2006C>T (p.Pro669Leu)
c.1403C>T (p.Pro468Leu)
c.1913C>T (p.Pro638Leu)
c.1574C>T (p.Pro525Leu)
c.1922C>T (p.Pro641Leu)
c.2030C>T (p.Pro677Leu)
c.1994C>T (p.Pro665Leu)
c.1952C>T (p.Pro651Leu)
c.1679+6193C>T (n.1679+6193C>T)
c.2048C>T (p.Pro683Leu)
c.2114C>T (p.Pro705Leu)
c.2111C>T (p.Pro704Leu)
c.2084C>T (p.Pro695Leu)
c.2003C>T (p.Pro668Leu)
c.1988C>T (p.Pro663Leu)
c.1595C>T (p.Pro532Leu)
c.2057C>T (p.Pro686Leu)
c.1991C>T (p.Pro664Leu)
c.1949C>T (p.Pro650Leu)
c.1022C>T (p.Pro341Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407257G>CCA409639200KCNQ2c.2060C>G (p.Pro687Arg)
c.2006C>G (p.Pro669Arg)
c.1403C>G (p.Pro468Arg)
c.1913C>G (p.Pro638Arg)
c.1574C>G (p.Pro525Arg)
c.1922C>G (p.Pro641Arg)
c.2030C>G (p.Pro677Arg)
c.1994C>G (p.Pro665Arg)
c.1952C>G (p.Pro651Arg)
c.1679+6193C>G (n.1679+6193C>G)
c.2048C>G (p.Pro683Arg)
c.2114C>G (p.Pro705Arg)
c.2111C>G (p.Pro704Arg)
c.2084C>G (p.Pro695Arg)
c.2003C>G (p.Pro668Arg)
c.1988C>G (p.Pro663Arg)
c.1595C>G (p.Pro532Arg)
c.2057C>G (p.Pro686Arg)
c.1991C>G (p.Pro664Arg)
c.1949C>G (p.Pro650Arg)
c.1022C>G (p.Pro341Arg)
 gnomAD v4
20g.63407257G=CA2374774512KCNQ2c.2060C= (p.Pro687=)
c.2006C= (p.Pro669=)
c.1403C= (p.Pro468=)
c.1913C= (p.Pro638=)
c.1574C= (p.Pro525=)
c.1922C= (p.Pro641=)
c.2030C= (p.Pro677=)
c.1994C= (p.Pro665=)
c.1952C= (p.Pro651=)
c.1679+6193C= (n.1679+6193C=)
c.2048C= (p.Pro683=)
c.2114C= (p.Pro705=)
c.2111C= (p.Pro704=)
c.2084C= (p.Pro695=)
c.2003C= (p.Pro668=)
c.1988C= (p.Pro663=)
c.1595C= (p.Pro532=)
c.2057C= (p.Pro686=)
c.1991C= (p.Pro664=)
c.1949C= (p.Pro650=)
c.1022C= (p.Pro341=)
20g.63407257G>TCA409639201KCNQ2c.2060C>A (p.Pro687Gln)
c.2006C>A (p.Pro669Gln)
c.1403C>A (p.Pro468Gln)
c.1913C>A (p.Pro638Gln)
c.1574C>A (p.Pro525Gln)
c.1922C>A (p.Pro641Gln)
c.2030C>A (p.Pro677Gln)
c.1994C>A (p.Pro665Gln)
c.1952C>A (p.Pro651Gln)
c.1679+6193C>A (n.1679+6193C>A)
c.2048C>A (p.Pro683Gln)
c.2114C>A (p.Pro705Gln)
c.2111C>A (p.Pro704Gln)
c.2084C>A (p.Pro695Gln)
c.2003C>A (p.Pro668Gln)
c.1988C>A (p.Pro663Gln)
c.1595C>A (p.Pro532Gln)
c.2057C>A (p.Pro686Gln)
c.1991C>A (p.Pro664Gln)
c.1949C>A (p.Pro650Gln)
c.1022C>A (p.Pro341Gln)
 gnomAD v4
20g.63407258G>ACA409639202KCNQ2c.2059C>T (p.Pro687Ser)
c.2005C>T (p.Pro669Ser)
c.1402C>T (p.Pro468Ser)
c.1912C>T (p.Pro638Ser)
c.1573C>T (p.Pro525Ser)
c.1921C>T (p.Pro641Ser)
c.2029C>T (p.Pro677Ser)
c.1993C>T (p.Pro665Ser)
c.1951C>T (p.Pro651Ser)
c.1679+6192C>T (n.1679+6192C>T)
c.2047C>T (p.Pro683Ser)
c.2113C>T (p.Pro705Ser)
c.2110C>T (p.Pro704Ser)
c.2083C>T (p.Pro695Ser)
c.2002C>T (p.Pro668Ser)
c.1987C>T (p.Pro663Ser)
c.1594C>T (p.Pro532Ser)
c.2056C>T (p.Pro686Ser)
c.1990C>T (p.Pro664Ser)
c.1948C>T (p.Pro650Ser)
c.1021C>T (p.Pro341Ser)
20g.63407258G>CCA409639203KCNQ2c.2059C>G (p.Pro687Ala)
c.2005C>G (p.Pro669Ala)
c.1402C>G (p.Pro468Ala)
c.1912C>G (p.Pro638Ala)
c.1573C>G (p.Pro525Ala)
c.1921C>G (p.Pro641Ala)
c.2029C>G (p.Pro677Ala)
c.1993C>G (p.Pro665Ala)
c.1951C>G (p.Pro651Ala)
c.1679+6192C>G (n.1679+6192C>G)
c.2047C>G (p.Pro683Ala)
c.2113C>G (p.Pro705Ala)
c.2110C>G (p.Pro704Ala)
c.2083C>G (p.Pro695Ala)
c.2002C>G (p.Pro668Ala)
c.1987C>G (p.Pro663Ala)
c.1594C>G (p.Pro532Ala)
c.2056C>G (p.Pro686Ala)
c.1990C>G (p.Pro664Ala)
c.1948C>G (p.Pro650Ala)
c.1021C>G (p.Pro341Ala)
20g.63407258G>TCA409639204KCNQ2c.2059C>A (p.Pro687Thr)
c.2005C>A (p.Pro669Thr)
c.1402C>A (p.Pro468Thr)
c.1912C>A (p.Pro638Thr)
c.1573C>A (p.Pro525Thr)
c.1921C>A (p.Pro641Thr)
c.2029C>A (p.Pro677Thr)
c.1993C>A (p.Pro665Thr)
c.1951C>A (p.Pro651Thr)
c.1679+6192C>A (n.1679+6192C>A)
c.2047C>A (p.Pro683Thr)
c.2113C>A (p.Pro705Thr)
c.2110C>A (p.Pro704Thr)
c.2083C>A (p.Pro695Thr)
c.2002C>A (p.Pro668Thr)
c.1987C>A (p.Pro663Thr)
c.1594C>A (p.Pro532Thr)
c.2056C>A (p.Pro686Thr)
c.1990C>A (p.Pro664Thr)
c.1948C>A (p.Pro650Thr)
c.1021C>A (p.Pro341Thr)
 gnomAD v4
20g.63407259C>ACA511339444KCNQ2c.2058G>T (p.Pro686=)
c.2004G>T (p.Pro668=)
c.1401G>T (p.Pro467=)
c.1911G>T (p.Pro637=)
c.1572G>T (p.Pro524=)
c.1920G>T (p.Pro640=)
c.2028G>T (p.Pro676=)
c.1992G>T (p.Pro664=)
c.1950G>T (p.Pro650=)
c.1679+6191G>T (n.1679+6191G>T)
c.2046G>T (p.Pro682=)
c.2112G>T (p.Pro704=)
c.2109G>T (p.Pro703=)
c.2082G>T (p.Pro694=)
c.2001G>T (p.Pro667=)
c.1986G>T (p.Pro662=)
c.1593G>T (p.Pro531=)
c.2055G>T (p.Pro685=)
c.1989G>T (p.Pro663=)
c.1947G>T (p.Pro649=)
c.1020G>T (p.Pro340=)
20g.63407259C=CA2374774513KCNQ2c.2058G= (p.Pro686=)
c.2004G= (p.Pro668=)
c.1401G= (p.Pro467=)
c.1911G= (p.Pro637=)
c.1572G= (p.Pro524=)
c.1920G= (p.Pro640=)
c.2028G= (p.Pro676=)
c.1992G= (p.Pro664=)
c.1950G= (p.Pro650=)
c.1679+6191G= (n.1679+6191G=)
c.2046G= (p.Pro682=)
c.2112G= (p.Pro704=)
c.2109G= (p.Pro703=)
c.2082G= (p.Pro694=)
c.2001G= (p.Pro667=)
c.1986G= (p.Pro662=)
c.1593G= (p.Pro531=)
c.2055G= (p.Pro685=)
c.1989G= (p.Pro663=)
c.1947G= (p.Pro649=)
c.1020G= (p.Pro340=)
20g.63407259C>GCA511339445KCNQ2c.2058G>C (p.Pro686=)
c.2004G>C (p.Pro668=)
c.1401G>C (p.Pro467=)
c.1911G>C (p.Pro637=)
c.1572G>C (p.Pro524=)
c.1920G>C (p.Pro640=)
c.2028G>C (p.Pro676=)
c.1992G>C (p.Pro664=)
c.1950G>C (p.Pro650=)
c.1679+6191G>C (n.1679+6191G>C)
c.2046G>C (p.Pro682=)
c.2112G>C (p.Pro704=)
c.2109G>C (p.Pro703=)
c.2082G>C (p.Pro694=)
c.2001G>C (p.Pro667=)
c.1986G>C (p.Pro662=)
c.1593G>C (p.Pro531=)
c.2055G>C (p.Pro685=)
c.1989G>C (p.Pro663=)
c.1947G>C (p.Pro649=)
c.1020G>C (p.Pro340=)
20g.63407259C>TCA317422459KCNQ2c.2058G>A (p.Pro686=)
c.2004G>A (p.Pro668=)
c.1401G>A (p.Pro467=)
c.1911G>A (p.Pro637=)
c.1572G>A (p.Pro524=)
c.1920G>A (p.Pro640=)
c.2028G>A (p.Pro676=)
c.1992G>A (p.Pro664=)
c.1950G>A (p.Pro650=)
c.1679+6191G>A (n.1679+6191G>A)
c.2046G>A (p.Pro682=)
c.2112G>A (p.Pro704=)
c.2109G>A (p.Pro703=)
c.2082G>A (p.Pro694=)
c.2001G>A (p.Pro667=)
c.1986G>A (p.Pro662=)
c.1593G>A (p.Pro531=)
c.2055G>A (p.Pro685=)
c.1989G>A (p.Pro663=)
c.1947G>A (p.Pro649=)
c.1020G>A (p.Pro340=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407260G>ACA409639206KCNQ2c.2057C>T (p.Pro686Leu)
c.2003C>T (p.Pro668Leu)
c.1400C>T (p.Pro467Leu)
c.1910C>T (p.Pro637Leu)
c.1571C>T (p.Pro524Leu)
c.1919C>T (p.Pro640Leu)
c.2027C>T (p.Pro676Leu)
c.1991C>T (p.Pro664Leu)
c.1949C>T (p.Pro650Leu)
c.1679+6190C>T (n.1679+6190C>T)
c.2045C>T (p.Pro682Leu)
c.2111C>T (p.Pro704Leu)
c.2108C>T (p.Pro703Leu)
c.2081C>T (p.Pro694Leu)
c.2000C>T (p.Pro667Leu)
c.1985C>T (p.Pro662Leu)
c.1592C>T (p.Pro531Leu)
c.2054C>T (p.Pro685Leu)
c.1988C>T (p.Pro663Leu)
c.1946C>T (p.Pro649Leu)
c.1019C>T (p.Pro340Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63407260G>CCA409639207KCNQ2c.2057C>G (p.Pro686Arg)
c.2003C>G (p.Pro668Arg)
c.1400C>G (p.Pro467Arg)
c.1910C>G (p.Pro637Arg)
c.1571C>G (p.Pro524Arg)
c.1919C>G (p.Pro640Arg)
c.2027C>G (p.Pro676Arg)
c.1991C>G (p.Pro664Arg)
c.1949C>G (p.Pro650Arg)
c.1679+6190C>G (n.1679+6190C>G)
c.2045C>G (p.Pro682Arg)
c.2111C>G (p.Pro704Arg)
c.2108C>G (p.Pro703Arg)
c.2081C>G (p.Pro694Arg)
c.2000C>G (p.Pro667Arg)
c.1985C>G (p.Pro662Arg)
c.1592C>G (p.Pro531Arg)
c.2054C>G (p.Pro685Arg)
c.1988C>G (p.Pro663Arg)
c.1946C>G (p.Pro649Arg)
c.1019C>G (p.Pro340Arg)
20g.63407260G=CA2374774514KCNQ2c.2057C= (p.Pro686=)
c.2003C= (p.Pro668=)
c.1400C= (p.Pro467=)
c.1910C= (p.Pro637=)
c.1571C= (p.Pro524=)
c.1919C= (p.Pro640=)
c.2027C= (p.Pro676=)
c.1991C= (p.Pro664=)
c.1949C= (p.Pro650=)
c.1679+6190C= (n.1679+6190C=)
c.2045C= (p.Pro682=)
c.2111C= (p.Pro704=)
c.2108C= (p.Pro703=)
c.2081C= (p.Pro694=)
c.2000C= (p.Pro667=)
c.1985C= (p.Pro662=)
c.1592C= (p.Pro531=)
c.2054C= (p.Pro685=)
c.1988C= (p.Pro663=)
c.1946C= (p.Pro649=)
c.1019C= (p.Pro340=)
20g.63407260G>TCA409639205KCNQ2c.2057C>A (p.Pro686Gln)
c.2003C>A (p.Pro668Gln)
c.1400C>A (p.Pro467Gln)
c.1910C>A (p.Pro637Gln)
c.1571C>A (p.Pro524Gln)
c.1919C>A (p.Pro640Gln)
c.2027C>A (p.Pro676Gln)
c.1991C>A (p.Pro664Gln)
c.1949C>A (p.Pro650Gln)
c.1679+6190C>A (n.1679+6190C>A)
c.2045C>A (p.Pro682Gln)
c.2111C>A (p.Pro704Gln)
c.2108C>A (p.Pro703Gln)
c.2081C>A (p.Pro694Gln)
c.2000C>A (p.Pro667Gln)
c.1985C>A (p.Pro662Gln)
c.1592C>A (p.Pro531Gln)
c.2054C>A (p.Pro685Gln)
c.1988C>A (p.Pro663Gln)
c.1946C>A (p.Pro649Gln)
c.1019C>A (p.Pro340Gln)
 COSMIC COSMIC COSMIC
20g.63407261G>ACA409639208KCNQ2c.2056C>T (p.Pro686Ser)
c.2002C>T (p.Pro668Ser)
c.1399C>T (p.Pro467Ser)
c.1909C>T (p.Pro637Ser)
c.1570C>T (p.Pro524Ser)
c.1918C>T (p.Pro640Ser)
c.2026C>T (p.Pro676Ser)
c.1990C>T (p.Pro664Ser)
c.1948C>T (p.Pro650Ser)
c.1679+6189C>T (n.1679+6189C>T)
c.2044C>T (p.Pro682Ser)
c.2110C>T (p.Pro704Ser)
c.2107C>T (p.Pro703Ser)
c.2080C>T (p.Pro694Ser)
c.1999C>T (p.Pro667Ser)
c.1984C>T (p.Pro662Ser)
c.1591C>T (p.Pro531Ser)
c.2053C>T (p.Pro685Ser)
c.1987C>T (p.Pro663Ser)
c.1945C>T (p.Pro649Ser)
c.1018C>T (p.Pro340Ser)
 gnomAD v4
20g.63407261G>CCA409639210KCNQ2c.2056C>G (p.Pro686Ala)
c.2002C>G (p.Pro668Ala)
c.1399C>G (p.Pro467Ala)
c.1909C>G (p.Pro637Ala)
c.1570C>G (p.Pro524Ala)
c.1918C>G (p.Pro640Ala)
c.2026C>G (p.Pro676Ala)
c.1990C>G (p.Pro664Ala)
c.1948C>G (p.Pro650Ala)
c.1679+6189C>G (n.1679+6189C>G)
c.2044C>G (p.Pro682Ala)
c.2110C>G (p.Pro704Ala)
c.2107C>G (p.Pro703Ala)
c.2080C>G (p.Pro694Ala)
c.1999C>G (p.Pro667Ala)
c.1984C>G (p.Pro662Ala)
c.1591C>G (p.Pro531Ala)
c.2053C>G (p.Pro685Ala)
c.1987C>G (p.Pro663Ala)
c.1945C>G (p.Pro649Ala)
c.1018C>G (p.Pro340Ala)
20g.63407261G>TCA409639209KCNQ2c.2056C>A (p.Pro686Thr)
c.2002C>A (p.Pro668Thr)
c.1399C>A (p.Pro467Thr)
c.1909C>A (p.Pro637Thr)
c.1570C>A (p.Pro524Thr)
c.1918C>A (p.Pro640Thr)
c.2026C>A (p.Pro676Thr)
c.1990C>A (p.Pro664Thr)
c.1948C>A (p.Pro650Thr)
c.1679+6189C>A (n.1679+6189C>A)
c.2044C>A (p.Pro682Thr)
c.2110C>A (p.Pro704Thr)
c.2107C>A (p.Pro703Thr)
c.2080C>A (p.Pro694Thr)
c.1999C>A (p.Pro667Thr)
c.1984C>A (p.Pro662Thr)
c.1591C>A (p.Pro531Thr)
c.2053C>A (p.Pro685Thr)
c.1987C>A (p.Pro663Thr)
c.1945C>A (p.Pro649Thr)
c.1018C>A (p.Pro340Thr)
 gnomAD v4
20g.63407262C>ACA511339446KCNQ2c.2055G>T (p.Ala685=)
c.2001G>T (p.Ala667=)
c.1398G>T (p.Ala466=)
c.1908G>T (p.Ala636=)
c.1569G>T (p.Ala523=)
c.1917G>T (p.Ala639=)
c.2025G>T (p.Ala675=)
c.1989G>T (p.Ala663=)
c.1947G>T (p.Ala649=)
c.1679+6188G>T (n.1679+6188G>T)
c.2043G>T (p.Ala681=)
c.2109G>T (p.Ala703=)
c.2106G>T (p.Ala702=)
c.2079G>T (p.Ala693=)
c.1998G>T (p.Ala666=)
c.1983G>T (p.Ala661=)
c.1590G>T (p.Ala530=)
c.2052G>T (p.Ala684=)
c.1986G>T (p.Ala662=)
c.1944G>T (p.Ala648=)
c.1017G>T (p.Ala339=)
20g.63407262C=CA2374774515KCNQ2c.2055G= (p.Ala685=)
c.2001G= (p.Ala667=)
c.1398G= (p.Ala466=)
c.1908G= (p.Ala636=)
c.1569G= (p.Ala523=)
c.1917G= (p.Ala639=)
c.2025G= (p.Ala675=)
c.1989G= (p.Ala663=)
c.1947G= (p.Ala649=)
c.1679+6188G= (n.1679+6188G=)
c.2043G= (p.Ala681=)
c.2109G= (p.Ala703=)
c.2106G= (p.Ala702=)
c.2079G= (p.Ala693=)
c.1998G= (p.Ala666=)
c.1983G= (p.Ala661=)
c.1590G= (p.Ala530=)
c.2052G= (p.Ala684=)
c.1986G= (p.Ala662=)
c.1944G= (p.Ala648=)
c.1017G= (p.Ala339=)
20g.63407262C>GCA317422479KCNQ2c.2055G>C (p.Ala685=)
c.2001G>C (p.Ala667=)
c.1398G>C (p.Ala466=)
c.1908G>C (p.Ala636=)
c.1569G>C (p.Ala523=)
c.1917G>C (p.Ala639=)
c.2025G>C (p.Ala675=)
c.1989G>C (p.Ala663=)
c.1947G>C (p.Ala649=)
c.1679+6188G>C (n.1679+6188G>C)
c.2043G>C (p.Ala681=)
c.2109G>C (p.Ala703=)
c.2106G>C (p.Ala702=)
c.2079G>C (p.Ala693=)
c.1998G>C (p.Ala666=)
c.1983G>C (p.Ala661=)
c.1590G>C (p.Ala530=)
c.2052G>C (p.Ala684=)
c.1986G>C (p.Ala662=)
c.1944G>C (p.Ala648=)
c.1017G>C (p.Ala339=)
 dbSNP
20g.63407262C>TCA9958175KCNQ2c.2055G>A (p.Ala685=)
c.2001G>A (p.Ala667=)
c.1398G>A (p.Ala466=)
c.1908G>A (p.Ala636=)
c.1569G>A (p.Ala523=)
c.1917G>A (p.Ala639=)
c.2025G>A (p.Ala675=)
c.1989G>A (p.Ala663=)
c.1947G>A (p.Ala649=)
c.1679+6188G>A (n.1679+6188G>A)
c.2043G>A (p.Ala681=)
c.2109G>A (p.Ala703=)
c.2106G>A (p.Ala702=)
c.2079G>A (p.Ala693=)
c.1998G>A (p.Ala666=)
c.1983G>A (p.Ala661=)
c.1590G>A (p.Ala530=)
c.2052G>A (p.Ala684=)
c.1986G>A (p.Ala662=)
c.1944G>A (p.Ala648=)
c.1017G>A (p.Ala339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407263G>ACA9958176KCNQ2c.2054C>T (p.Ala685Val)
c.2000C>T (p.Ala667Val)
c.1397C>T (p.Ala466Val)
c.1907C>T (p.Ala636Val)
c.1568C>T (p.Ala523Val)
c.1916C>T (p.Ala639Val)
c.2024C>T (p.Ala675Val)
c.1988C>T (p.Ala663Val)
c.1946C>T (p.Ala649Val)
c.1679+6187C>T (n.1679+6187C>T)
c.2042C>T (p.Ala681Val)
c.2108C>T (p.Ala703Val)
c.2105C>T (p.Ala702Val)
c.2078C>T (p.Ala693Val)
c.1997C>T (p.Ala666Val)
c.1982C>T (p.Ala661Val)
c.1589C>T (p.Ala530Val)
c.2051C>T (p.Ala684Val)
c.1985C>T (p.Ala662Val)
c.1943C>T (p.Ala648Val)
c.1016C>T (p.Ala339Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407263G>CCA409639211KCNQ2c.2054C>G (p.Ala685Gly)
c.2000C>G (p.Ala667Gly)
c.1397C>G (p.Ala466Gly)
c.1907C>G (p.Ala636Gly)
c.1568C>G (p.Ala523Gly)
c.1916C>G (p.Ala639Gly)
c.2024C>G (p.Ala675Gly)
c.1988C>G (p.Ala663Gly)
c.1946C>G (p.Ala649Gly)
c.1679+6187C>G (n.1679+6187C>G)
c.2042C>G (p.Ala681Gly)
c.2108C>G (p.Ala703Gly)
c.2105C>G (p.Ala702Gly)
c.2078C>G (p.Ala693Gly)
c.1997C>G (p.Ala666Gly)
c.1982C>G (p.Ala661Gly)
c.1589C>G (p.Ala530Gly)
c.2051C>G (p.Ala684Gly)
c.1985C>G (p.Ala662Gly)
c.1943C>G (p.Ala648Gly)
c.1016C>G (p.Ala339Gly)
20g.63407263G=CA2374774516KCNQ2c.2054C= (p.Ala685=)
c.2000C= (p.Ala667=)
c.1397C= (p.Ala466=)
c.1907C= (p.Ala636=)
c.1568C= (p.Ala523=)
c.1916C= (p.Ala639=)
c.2024C= (p.Ala675=)
c.1988C= (p.Ala663=)
c.1946C= (p.Ala649=)
c.1679+6187C= (n.1679+6187C=)
c.2042C= (p.Ala681=)
c.2108C= (p.Ala703=)
c.2105C= (p.Ala702=)
c.2078C= (p.Ala693=)
c.1997C= (p.Ala666=)
c.1982C= (p.Ala661=)
c.1589C= (p.Ala530=)
c.2051C= (p.Ala684=)
c.1985C= (p.Ala662=)
c.1943C= (p.Ala648=)
c.1016C= (p.Ala339=)
20g.63407263G>TCA409639212KCNQ2c.2054C>A (p.Ala685Glu)
c.2000C>A (p.Ala667Glu)
c.1397C>A (p.Ala466Glu)
c.1907C>A (p.Ala636Glu)
c.1568C>A (p.Ala523Glu)
c.1916C>A (p.Ala639Glu)
c.2024C>A (p.Ala675Glu)
c.1988C>A (p.Ala663Glu)
c.1946C>A (p.Ala649Glu)
c.1679+6187C>A (n.1679+6187C>A)
c.2042C>A (p.Ala681Glu)
c.2108C>A (p.Ala703Glu)
c.2105C>A (p.Ala702Glu)
c.2078C>A (p.Ala693Glu)
c.1997C>A (p.Ala666Glu)
c.1982C>A (p.Ala661Glu)
c.1589C>A (p.Ala530Glu)
c.2051C>A (p.Ala684Glu)
c.1985C>A (p.Ala662Glu)
c.1943C>A (p.Ala648Glu)
c.1016C>A (p.Ala339Glu)
 gnomAD v4
20g.63407264C>ACA409639213KCNQ2c.2053G>T (p.Ala685Ser)
c.1999G>T (p.Ala667Ser)
c.1396G>T (p.Ala466Ser)
c.1906G>T (p.Ala636Ser)
c.1567G>T (p.Ala523Ser)
c.1915G>T (p.Ala639Ser)
c.2023G>T (p.Ala675Ser)
c.1987G>T (p.Ala663Ser)
c.1945G>T (p.Ala649Ser)
c.1679+6186G>T (n.1679+6186G>T)
c.2041G>T (p.Ala681Ser)
c.2107G>T (p.Ala703Ser)
c.2104G>T (p.Ala702Ser)
c.2077G>T (p.Ala693Ser)
c.1996G>T (p.Ala666Ser)
c.1981G>T (p.Ala661Ser)
c.1588G>T (p.Ala530Ser)
c.2050G>T (p.Ala684Ser)
c.1984G>T (p.Ala662Ser)
c.1942G>T (p.Ala648Ser)
c.1015G>T (p.Ala339Ser)
20g.63407264C>GCA409639214KCNQ2c.2053G>C (p.Ala685Pro)
c.1999G>C (p.Ala667Pro)
c.1396G>C (p.Ala466Pro)
c.1906G>C (p.Ala636Pro)
c.1567G>C (p.Ala523Pro)
c.1915G>C (p.Ala639Pro)
c.2023G>C (p.Ala675Pro)
c.1987G>C (p.Ala663Pro)
c.1945G>C (p.Ala649Pro)
c.1679+6186G>C (n.1679+6186G>C)
c.2041G>C (p.Ala681Pro)
c.2107G>C (p.Ala703Pro)
c.2104G>C (p.Ala702Pro)
c.2077G>C (p.Ala693Pro)
c.1996G>C (p.Ala666Pro)
c.1981G>C (p.Ala661Pro)
c.1588G>C (p.Ala530Pro)
c.2050G>C (p.Ala684Pro)
c.1984G>C (p.Ala662Pro)
c.1942G>C (p.Ala648Pro)
c.1015G>C (p.Ala339Pro)
20g.63407264C>TCA409639215KCNQ2c.2053G>A (p.Ala685Thr)
c.1999G>A (p.Ala667Thr)
c.1396G>A (p.Ala466Thr)
c.1906G>A (p.Ala636Thr)
c.1567G>A (p.Ala523Thr)
c.1915G>A (p.Ala639Thr)
c.2023G>A (p.Ala675Thr)
c.1987G>A (p.Ala663Thr)
c.1945G>A (p.Ala649Thr)
c.1679+6186G>A (n.1679+6186G>A)
c.2041G>A (p.Ala681Thr)
c.2107G>A (p.Ala703Thr)
c.2104G>A (p.Ala702Thr)
c.2077G>A (p.Ala693Thr)
c.1996G>A (p.Ala666Thr)
c.1981G>A (p.Ala661Thr)
c.1588G>A (p.Ala530Thr)
c.2050G>A (p.Ala684Thr)
c.1984G>A (p.Ala662Thr)
c.1942G>A (p.Ala648Thr)
c.1015G>A (p.Ala339Thr)
 gnomAD v4 COSMIC
20g.63407265dupCA920253008KCNQ2c.2053dup (p.Ala685GlyfsTer?)
c.1999dup (p.Ala667GlyfsTer?)
c.1396dup (p.Ala466GlyfsTer?)
c.1906dup (p.Ala636GlyfsTer?)
c.1567dup (p.Ala523GlyfsTer?)
c.1915dup (p.Ala639GlyfsTer?)
c.2023dup (p.Ala675GlyfsTer?)
c.1987dup (p.Ala663GlyfsTer?)
c.1945dup (p.Ala649GlyfsTer?)
c.1679+6186dup (n.1679+6186dup)
c.2041dup (p.Ala681GlyfsTer?)
c.2107dup (p.Ala703GlyfsTer?)
c.2104dup (p.Ala702GlyfsTer?)
c.2077dup (p.Ala693GlyfsTer?)
c.1996dup (p.Ala666GlyfsTer?)
c.1981dup (p.Ala661GlyfsTer?)
c.1588dup (p.Ala530GlyfsTer?)
c.2050dup (p.Ala684GlyfsTer?)
c.1984dup (p.Ala662GlyfsTer?)
c.1942dup (p.Ala648GlyfsTer?)
c.1015dup (p.Ala339GlyfsTer?)
 dbSNP
20g.63407271_63407276dupCA2653806089KCNQ2c.2048_2053dup (p.Pro684_Ala685insGluPro)
c.1994_1999dup (p.Pro666_Ala667insGluPro)
c.1391_1396dup (p.Pro465_Ala466insGluPro)
c.1901_1906dup (p.Pro635_Ala636insGluPro)
c.1562_1567dup (p.Pro522_Ala523insGluPro)
c.1910_1915dup (p.Pro638_Ala639insGluPro)
c.2018_2023dup (p.Pro674_Ala675insGluPro)
c.1982_1987dup (p.Pro662_Ala663insGluPro)
c.1940_1945dup (p.Pro648_Ala649insGluPro)
c.1679+6181_1679+6186dup (n.1679+6181_1679+6186dup)
c.2036_2041dup (p.Pro680_Ala681insGluPro)
c.2102_2107dup (p.Pro702_Ala703insGluPro)
c.2099_2104dup (p.Pro701_Ala702insGluPro)
c.2072_2077dup (p.Pro692_Ala693insGluPro)
c.1991_1996dup (p.Pro665_Ala666insGluPro)
c.1976_1981dup (p.Pro660_Ala661insGluPro)
c.1583_1588dup (p.Pro529_Ala530insGluPro)
c.2045_2050dup (p.Pro683_Ala684insGluPro)
c.1979_1984dup (p.Pro661_Ala662insGluPro)
c.1937_1942dup (p.Pro647_Ala648insGluPro)
c.1010_1015dup (p.Pro338_Ala339insGluPro)
 gnomAD v4
20g.63407265C>ACA511339535KCNQ2c.2052G>T (p.Pro684=)
c.1998G>T (p.Pro666=)
c.1395G>T (p.Pro465=)
c.1905G>T (p.Pro635=)
c.1566G>T (p.Pro522=)
c.1914G>T (p.Pro638=)
c.2022G>T (p.Pro674=)
c.1986G>T (p.Pro662=)
c.1944G>T (p.Pro648=)
c.1679+6185G>T (n.1679+6185G>T)
c.2040G>T (p.Pro680=)
c.2106G>T (p.Pro702=)
c.2103G>T (p.Pro701=)
c.2076G>T (p.Pro692=)
c.1995G>T (p.Pro665=)
c.1980G>T (p.Pro660=)
c.1587G>T (p.Pro529=)
c.2049G>T (p.Pro683=)
c.1983G>T (p.Pro661=)
c.1941G>T (p.Pro647=)
c.1014G>T (p.Pro338=)
 ClinVar dbSNP
20g.63407265C=CA2374774517KCNQ2c.2052G= (p.Pro684=)
c.1998G= (p.Pro666=)
c.1395G= (p.Pro465=)
c.1905G= (p.Pro635=)
c.1566G= (p.Pro522=)
c.1914G= (p.Pro638=)
c.2022G= (p.Pro674=)
c.1986G= (p.Pro662=)
c.1944G= (p.Pro648=)
c.1679+6185G= (n.1679+6185G=)
c.2040G= (p.Pro680=)
c.2106G= (p.Pro702=)
c.2103G= (p.Pro701=)
c.2076G= (p.Pro692=)
c.1995G= (p.Pro665=)
c.1980G= (p.Pro660=)
c.1587G= (p.Pro529=)
c.2049G= (p.Pro683=)
c.1983G= (p.Pro661=)
c.1941G= (p.Pro647=)
c.1014G= (p.Pro338=)
20g.63407265C>GCA511339536KCNQ2c.2052G>C (p.Pro684=)
c.1998G>C (p.Pro666=)
c.1395G>C (p.Pro465=)
c.1905G>C (p.Pro635=)
c.1566G>C (p.Pro522=)
c.1914G>C (p.Pro638=)
c.2022G>C (p.Pro674=)
c.1986G>C (p.Pro662=)
c.1944G>C (p.Pro648=)
c.1679+6185G>C (n.1679+6185G>C)
c.2040G>C (p.Pro680=)
c.2106G>C (p.Pro702=)
c.2103G>C (p.Pro701=)
c.2076G>C (p.Pro692=)
c.1995G>C (p.Pro665=)
c.1980G>C (p.Pro660=)
c.1587G>C (p.Pro529=)
c.2049G>C (p.Pro683=)
c.1983G>C (p.Pro661=)
c.1941G>C (p.Pro647=)
c.1014G>C (p.Pro338=)
 gnomAD v4
20g.63407265C>TCA9958177KCNQ2c.2052G>A (p.Pro684=)
c.1998G>A (p.Pro666=)
c.1395G>A (p.Pro465=)
c.1905G>A (p.Pro635=)
c.1566G>A (p.Pro522=)
c.1914G>A (p.Pro638=)
c.2022G>A (p.Pro674=)
c.1986G>A (p.Pro662=)
c.1944G>A (p.Pro648=)
c.1679+6185G>A (n.1679+6185G>A)
c.2040G>A (p.Pro680=)
c.2106G>A (p.Pro702=)
c.2103G>A (p.Pro701=)
c.2076G>A (p.Pro692=)
c.1995G>A (p.Pro665=)
c.1980G>A (p.Pro660=)
c.1587G>A (p.Pro529=)
c.2049G>A (p.Pro683=)
c.1983G>A (p.Pro661=)
c.1941G>A (p.Pro647=)
c.1014G>A (p.Pro338=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407266G>ACA9958178KCNQ2c.2051C>T (p.Pro684Leu)
c.1997C>T (p.Pro666Leu)
c.1394C>T (p.Pro465Leu)
c.1904C>T (p.Pro635Leu)
c.1565C>T (p.Pro522Leu)
c.1913C>T (p.Pro638Leu)
c.2021C>T (p.Pro674Leu)
c.1985C>T (p.Pro662Leu)
c.1943C>T (p.Pro648Leu)
c.1679+6184C>T (n.1679+6184C>T)
c.2039C>T (p.Pro680Leu)
c.2105C>T (p.Pro702Leu)
c.2102C>T (p.Pro701Leu)
c.2075C>T (p.Pro692Leu)
c.1994C>T (p.Pro665Leu)
c.1979C>T (p.Pro660Leu)
c.1586C>T (p.Pro529Leu)
c.2048C>T (p.Pro683Leu)
c.1982C>T (p.Pro661Leu)
c.1940C>T (p.Pro647Leu)
c.1013C>T (p.Pro338Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407266G>CCA409639216KCNQ2c.2051C>G (p.Pro684Arg)
c.1997C>G (p.Pro666Arg)
c.1394C>G (p.Pro465Arg)
c.1904C>G (p.Pro635Arg)
c.1565C>G (p.Pro522Arg)
c.1913C>G (p.Pro638Arg)
c.2021C>G (p.Pro674Arg)
c.1985C>G (p.Pro662Arg)
c.1943C>G (p.Pro648Arg)
c.1679+6184C>G (n.1679+6184C>G)
c.2039C>G (p.Pro680Arg)
c.2105C>G (p.Pro702Arg)
c.2102C>G (p.Pro701Arg)
c.2075C>G (p.Pro692Arg)
c.1994C>G (p.Pro665Arg)
c.1979C>G (p.Pro660Arg)
c.1586C>G (p.Pro529Arg)
c.2048C>G (p.Pro683Arg)
c.1982C>G (p.Pro661Arg)
c.1940C>G (p.Pro647Arg)
c.1013C>G (p.Pro338Arg)
20g.63407266G=CA2374774518KCNQ2c.2051C= (p.Pro684=)
c.1997C= (p.Pro666=)
c.1394C= (p.Pro465=)
c.1904C= (p.Pro635=)
c.1565C= (p.Pro522=)
c.1913C= (p.Pro638=)
c.2021C= (p.Pro674=)
c.1985C= (p.Pro662=)
c.1943C= (p.Pro648=)
c.1679+6184C= (n.1679+6184C=)
c.2039C= (p.Pro680=)
c.2105C= (p.Pro702=)
c.2102C= (p.Pro701=)
c.2075C= (p.Pro692=)
c.1994C= (p.Pro665=)
c.1979C= (p.Pro660=)
c.1586C= (p.Pro529=)
c.2048C= (p.Pro683=)
c.1982C= (p.Pro661=)
c.1940C= (p.Pro647=)
c.1013C= (p.Pro338=)
20g.63407266G>TCA409639217KCNQ2c.2051C>A (p.Pro684Gln)
c.1997C>A (p.Pro666Gln)
c.1394C>A (p.Pro465Gln)
c.1904C>A (p.Pro635Gln)
c.1565C>A (p.Pro522Gln)
c.1913C>A (p.Pro638Gln)
c.2021C>A (p.Pro674Gln)
c.1985C>A (p.Pro662Gln)
c.1943C>A (p.Pro648Gln)
c.1679+6184C>A (n.1679+6184C>A)
c.2039C>A (p.Pro680Gln)
c.2105C>A (p.Pro702Gln)
c.2102C>A (p.Pro701Gln)
c.2075C>A (p.Pro692Gln)
c.1994C>A (p.Pro665Gln)
c.1979C>A (p.Pro660Gln)
c.1586C>A (p.Pro529Gln)
c.2048C>A (p.Pro683Gln)
c.1982C>A (p.Pro661Gln)
c.1940C>A (p.Pro647Gln)
c.1013C>A (p.Pro338Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63407267G>ACA409639218KCNQ2c.2050C>T (p.Pro684Ser)
c.1996C>T (p.Pro666Ser)
c.1393C>T (p.Pro465Ser)
c.1903C>T (p.Pro635Ser)
c.1564C>T (p.Pro522Ser)
c.1912C>T (p.Pro638Ser)
c.2020C>T (p.Pro674Ser)
c.1984C>T (p.Pro662Ser)
c.1942C>T (p.Pro648Ser)
c.1679+6183C>T (n.1679+6183C>T)
c.2038C>T (p.Pro680Ser)
c.2104C>T (p.Pro702Ser)
c.2101C>T (p.Pro701Ser)
c.2074C>T (p.Pro692Ser)
c.1993C>T (p.Pro665Ser)
c.1978C>T (p.Pro660Ser)
c.1585C>T (p.Pro529Ser)
c.2047C>T (p.Pro683Ser)
c.1981C>T (p.Pro661Ser)
c.1939C>T (p.Pro647Ser)
c.1012C>T (p.Pro338Ser)
 gnomAD v4
20g.63407267G>CCA409639220KCNQ2c.2050C>G (p.Pro684Ala)
c.1996C>G (p.Pro666Ala)
c.1393C>G (p.Pro465Ala)
c.1903C>G (p.Pro635Ala)
c.1564C>G (p.Pro522Ala)
c.1912C>G (p.Pro638Ala)
c.2020C>G (p.Pro674Ala)
c.1984C>G (p.Pro662Ala)
c.1942C>G (p.Pro648Ala)
c.1679+6183C>G (n.1679+6183C>G)
c.2038C>G (p.Pro680Ala)
c.2104C>G (p.Pro702Ala)
c.2101C>G (p.Pro701Ala)
c.2074C>G (p.Pro692Ala)
c.1993C>G (p.Pro665Ala)
c.1978C>G (p.Pro660Ala)
c.1585C>G (p.Pro529Ala)
c.2047C>G (p.Pro683Ala)
c.1981C>G (p.Pro661Ala)
c.1939C>G (p.Pro647Ala)
c.1012C>G (p.Pro338Ala)
20g.63407267G>TCA409639219KCNQ2c.2050C>A (p.Pro684Thr)
c.1996C>A (p.Pro666Thr)
c.1393C>A (p.Pro465Thr)
c.1903C>A (p.Pro635Thr)
c.1564C>A (p.Pro522Thr)
c.1912C>A (p.Pro638Thr)
c.2020C>A (p.Pro674Thr)
c.1984C>A (p.Pro662Thr)
c.1942C>A (p.Pro648Thr)
c.1679+6183C>A (n.1679+6183C>A)
c.2038C>A (p.Pro680Thr)
c.2104C>A (p.Pro702Thr)
c.2101C>A (p.Pro701Thr)
c.2074C>A (p.Pro692Thr)
c.1993C>A (p.Pro665Thr)
c.1978C>A (p.Pro660Thr)
c.1585C>A (p.Pro529Thr)
c.2047C>A (p.Pro683Thr)
c.1981C>A (p.Pro661Thr)
c.1939C>A (p.Pro647Thr)
c.1012C>A (p.Pro338Thr)
 gnomAD v4
20g.63407268C>ACA409639221KCNQ2c.2049G>T (p.Glu683Asp)
c.1995G>T (p.Glu665Asp)
c.1392G>T (p.Glu464Asp)
c.1902G>T (p.Glu634Asp)
c.1563G>T (p.Glu521Asp)
c.1911G>T (p.Glu637Asp)
c.2019G>T (p.Glu673Asp)
c.1983G>T (p.Glu661Asp)
c.1941G>T (p.Glu647Asp)
c.1679+6182G>T (n.1679+6182G>T)
c.2037G>T (p.Glu679Asp)
c.2103G>T (p.Glu701Asp)
c.2100G>T (p.Glu700Asp)
c.2073G>T (p.Glu691Asp)
c.1992G>T (p.Glu664Asp)
c.1977G>T (p.Glu659Asp)
c.1584G>T (p.Glu528Asp)
c.2046G>T (p.Glu682Asp)
c.1980G>T (p.Glu660Asp)
c.1938G>T (p.Glu646Asp)
c.1011G>T (p.Glu337Asp)
20g.63407268C>GCA409639222KCNQ2c.2049G>C (p.Glu683Asp)
c.1995G>C (p.Glu665Asp)
c.1392G>C (p.Glu464Asp)
c.1902G>C (p.Glu634Asp)
c.1563G>C (p.Glu521Asp)
c.1911G>C (p.Glu637Asp)
c.2019G>C (p.Glu673Asp)
c.1983G>C (p.Glu661Asp)
c.1941G>C (p.Glu647Asp)
c.1679+6182G>C (n.1679+6182G>C)
c.2037G>C (p.Glu679Asp)
c.2103G>C (p.Glu701Asp)
c.2100G>C (p.Glu700Asp)
c.2073G>C (p.Glu691Asp)
c.1992G>C (p.Glu664Asp)
c.1977G>C (p.Glu659Asp)
c.1584G>C (p.Glu528Asp)
c.2046G>C (p.Glu682Asp)
c.1980G>C (p.Glu660Asp)
c.1938G>C (p.Glu646Asp)
c.1011G>C (p.Glu337Asp)
20g.63407268C>TCA511339537KCNQ2c.2049G>A (p.Glu683=)
c.1995G>A (p.Glu665=)
c.1392G>A (p.Glu464=)
c.1902G>A (p.Glu634=)
c.1563G>A (p.Glu521=)
c.1911G>A (p.Glu637=)
c.2019G>A (p.Glu673=)
c.1983G>A (p.Glu661=)
c.1941G>A (p.Glu647=)
c.1679+6182G>A (n.1679+6182G>A)
c.2037G>A (p.Glu679=)
c.2103G>A (p.Glu701=)
c.2100G>A (p.Glu700=)
c.2073G>A (p.Glu691=)
c.1992G>A (p.Glu664=)
c.1977G>A (p.Glu659=)
c.1584G>A (p.Glu528=)
c.2046G>A (p.Glu682=)
c.1980G>A (p.Glu660=)
c.1938G>A (p.Glu646=)
c.1011G>A (p.Glu337=)
20g.63407269T>ACA409639223KCNQ2c.2048A>T (p.Glu683Val)
c.1994A>T (p.Glu665Val)
c.1391A>T (p.Glu464Val)
c.1901A>T (p.Glu634Val)
c.1562A>T (p.Glu521Val)
c.1910A>T (p.Glu637Val)
c.2018A>T (p.Glu673Val)
c.1982A>T (p.Glu661Val)
c.1940A>T (p.Glu647Val)
c.1679+6181A>T (n.1679+6181A>T)
c.2036A>T (p.Glu679Val)
c.2102A>T (p.Glu701Val)
c.2099A>T (p.Glu700Val)
c.2072A>T (p.Glu691Val)
c.1991A>T (p.Glu664Val)
c.1976A>T (p.Glu659Val)
c.1583A>T (p.Glu528Val)
c.2045A>T (p.Glu682Val)
c.1979A>T (p.Glu660Val)
c.1937A>T (p.Glu646Val)
c.1010A>T (p.Glu337Val)
20g.63407269T>CCA409639224KCNQ2c.2048A>G (p.Glu683Gly)
c.1994A>G (p.Glu665Gly)
c.1391A>G (p.Glu464Gly)
c.1901A>G (p.Glu634Gly)
c.1562A>G (p.Glu521Gly)
c.1910A>G (p.Glu637Gly)
c.2018A>G (p.Glu673Gly)
c.1982A>G (p.Glu661Gly)
c.1940A>G (p.Glu647Gly)
c.1679+6181A>G (n.1679+6181A>G)
c.2036A>G (p.Glu679Gly)
c.2102A>G (p.Glu701Gly)
c.2099A>G (p.Glu700Gly)
c.2072A>G (p.Glu691Gly)
c.1991A>G (p.Glu664Gly)
c.1976A>G (p.Glu659Gly)
c.1583A>G (p.Glu528Gly)
c.2045A>G (p.Glu682Gly)
c.1979A>G (p.Glu660Gly)
c.1937A>G (p.Glu646Gly)
c.1010A>G (p.Glu337Gly)
 dbSNP
20g.63407269T>GCA409639225KCNQ2c.2048A>C (p.Glu683Ala)
c.1994A>C (p.Glu665Ala)
c.1391A>C (p.Glu464Ala)
c.1901A>C (p.Glu634Ala)
c.1562A>C (p.Glu521Ala)
c.1910A>C (p.Glu637Ala)
c.2018A>C (p.Glu673Ala)
c.1982A>C (p.Glu661Ala)
c.1940A>C (p.Glu647Ala)
c.1679+6181A>C (n.1679+6181A>C)
c.2036A>C (p.Glu679Ala)
c.2102A>C (p.Glu701Ala)
c.2099A>C (p.Glu700Ala)
c.2072A>C (p.Glu691Ala)
c.1991A>C (p.Glu664Ala)
c.1976A>C (p.Glu659Ala)
c.1583A>C (p.Glu528Ala)
c.2045A>C (p.Glu682Ala)
c.1979A>C (p.Glu660Ala)
c.1937A>C (p.Glu646Ala)
c.1010A>C (p.Glu337Ala)
20g.63407269T=CA2374774519KCNQ2c.2048A= (p.Glu683=)
c.1994A= (p.Glu665=)
c.1391A= (p.Glu464=)
c.1901A= (p.Glu634=)
c.1562A= (p.Glu521=)
c.1910A= (p.Glu637=)
c.2018A= (p.Glu673=)
c.1982A= (p.Glu661=)
c.1940A= (p.Glu647=)
c.1679+6181A= (n.1679+6181A=)
c.2036A= (p.Glu679=)
c.2102A= (p.Glu701=)
c.2099A= (p.Glu700=)
c.2072A= (p.Glu691=)
c.1991A= (p.Glu664=)
c.1976A= (p.Glu659=)
c.1583A= (p.Glu528=)
c.2045A= (p.Glu682=)
c.1979A= (p.Glu660=)
c.1937A= (p.Glu646=)
c.1010A= (p.Glu337=)
20g.63407270C>ACA409639226KCNQ2c.2047G>T (p.Glu683Ter)
c.1993G>T (p.Glu665Ter)
c.1390G>T (p.Glu464Ter)
c.1900G>T (p.Glu634Ter)
c.1561G>T (p.Glu521Ter)
c.1909G>T (p.Glu637Ter)
c.2017G>T (p.Glu673Ter)
c.1981G>T (p.Glu661Ter)
c.1939G>T (p.Glu647Ter)
c.1679+6180G>T (n.1679+6180G>T)
c.2035G>T (p.Glu679Ter)
c.2101G>T (p.Glu701Ter)
c.2098G>T (p.Glu700Ter)
c.2071G>T (p.Glu691Ter)
c.1990G>T (p.Glu664Ter)
c.1975G>T (p.Glu659Ter)
c.1582G>T (p.Glu528Ter)
c.2044G>T (p.Glu682Ter)
c.1978G>T (p.Glu660Ter)
c.1936G>T (p.Glu646Ter)
c.1009G>T (p.Glu337Ter)
20g.63407270C>GCA409639227KCNQ2c.2047G>C (p.Glu683Gln)
c.1993G>C (p.Glu665Gln)
c.1390G>C (p.Glu464Gln)
c.1900G>C (p.Glu634Gln)
c.1561G>C (p.Glu521Gln)
c.1909G>C (p.Glu637Gln)
c.2017G>C (p.Glu673Gln)
c.1981G>C (p.Glu661Gln)
c.1939G>C (p.Glu647Gln)
c.1679+6180G>C (n.1679+6180G>C)
c.2035G>C (p.Glu679Gln)
c.2101G>C (p.Glu701Gln)
c.2098G>C (p.Glu700Gln)
c.2071G>C (p.Glu691Gln)
c.1990G>C (p.Glu664Gln)
c.1975G>C (p.Glu659Gln)
c.1582G>C (p.Glu528Gln)
c.2044G>C (p.Glu682Gln)
c.1978G>C (p.Glu660Gln)
c.1936G>C (p.Glu646Gln)
c.1009G>C (p.Glu337Gln)
20g.63407270C>TCA409639228KCNQ2c.2047G>A (p.Glu683Lys)
c.1993G>A (p.Glu665Lys)
c.1390G>A (p.Glu464Lys)
c.1900G>A (p.Glu634Lys)
c.1561G>A (p.Glu521Lys)
c.1909G>A (p.Glu637Lys)
c.2017G>A (p.Glu673Lys)
c.1981G>A (p.Glu661Lys)
c.1939G>A (p.Glu647Lys)
c.1679+6180G>A (n.1679+6180G>A)
c.2035G>A (p.Glu679Lys)
c.2101G>A (p.Glu701Lys)
c.2098G>A (p.Glu700Lys)
c.2071G>A (p.Glu691Lys)
c.1990G>A (p.Glu664Lys)
c.1975G>A (p.Glu659Lys)
c.1582G>A (p.Glu528Lys)
c.2044G>A (p.Glu682Lys)
c.1978G>A (p.Glu660Lys)
c.1936G>A (p.Glu646Lys)
c.1009G>A (p.Glu337Lys)
20g.63407271C>ACA511339538KCNQ2c.2046G>T (p.Pro682=)
c.1992G>T (p.Pro664=)
c.1389G>T (p.Pro463=)
c.1899G>T (p.Pro633=)
c.1560G>T (p.Pro520=)
c.1908G>T (p.Pro636=)
c.2016G>T (p.Pro672=)
c.1980G>T (p.Pro660=)
c.1938G>T (p.Pro646=)
c.1679+6179G>T (n.1679+6179G>T)
c.2034G>T (p.Pro678=)
c.2100G>T (p.Pro700=)
c.2097G>T (p.Pro699=)
c.2070G>T (p.Pro690=)
c.1989G>T (p.Pro663=)
c.1974G>T (p.Pro658=)
c.1581G>T (p.Pro527=)
c.2043G>T (p.Pro681=)
c.1977G>T (p.Pro659=)
c.1935G>T (p.Pro645=)
c.1008G>T (p.Pro336=)
20g.63407271C=CA2374774520KCNQ2c.2046G= (p.Pro682=)
c.1992G= (p.Pro664=)
c.1389G= (p.Pro463=)
c.1899G= (p.Pro633=)
c.1560G= (p.Pro520=)
c.1908G= (p.Pro636=)
c.2016G= (p.Pro672=)
c.1980G= (p.Pro660=)
c.1938G= (p.Pro646=)
c.1679+6179G= (n.1679+6179G=)
c.2034G= (p.Pro678=)
c.2100G= (p.Pro700=)
c.2097G= (p.Pro699=)
c.2070G= (p.Pro690=)
c.1989G= (p.Pro663=)
c.1974G= (p.Pro658=)
c.1581G= (p.Pro527=)
c.2043G= (p.Pro681=)
c.1977G= (p.Pro659=)
c.1935G= (p.Pro645=)
c.1008G= (p.Pro336=)
20g.63407271C>GCA511339539KCNQ2c.2046G>C (p.Pro682=)
c.1992G>C (p.Pro664=)
c.1389G>C (p.Pro463=)
c.1899G>C (p.Pro633=)
c.1560G>C (p.Pro520=)
c.1908G>C (p.Pro636=)
c.2016G>C (p.Pro672=)
c.1980G>C (p.Pro660=)
c.1938G>C (p.Pro646=)
c.1679+6179G>C (n.1679+6179G>C)
c.2034G>C (p.Pro678=)
c.2100G>C (p.Pro700=)
c.2097G>C (p.Pro699=)
c.2070G>C (p.Pro690=)
c.1989G>C (p.Pro663=)
c.1974G>C (p.Pro658=)
c.1581G>C (p.Pro527=)
c.2043G>C (p.Pro681=)
c.1977G>C (p.Pro659=)
c.1935G>C (p.Pro645=)
c.1008G>C (p.Pro336=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407271C>TCA317422508KCNQ2c.2046G>A (p.Pro682=)
c.1992G>A (p.Pro664=)
c.1389G>A (p.Pro463=)
c.1899G>A (p.Pro633=)
c.1560G>A (p.Pro520=)
c.1908G>A (p.Pro636=)
c.2016G>A (p.Pro672=)
c.1980G>A (p.Pro660=)
c.1938G>A (p.Pro646=)
c.1679+6179G>A (n.1679+6179G>A)
c.2034G>A (p.Pro678=)
c.2100G>A (p.Pro700=)
c.2097G>A (p.Pro699=)
c.2070G>A (p.Pro690=)
c.1989G>A (p.Pro663=)
c.1974G>A (p.Pro658=)
c.1581G>A (p.Pro527=)
c.2043G>A (p.Pro681=)
c.1977G>A (p.Pro659=)
c.1935G>A (p.Pro645=)
c.1008G>A (p.Pro336=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407272G>ACA9958179KCNQ2c.2045C>T (p.Pro682Leu)
c.1991C>T (p.Pro664Leu)
c.1388C>T (p.Pro463Leu)
c.1898C>T (p.Pro633Leu)
c.1559C>T (p.Pro520Leu)
c.1907C>T (p.Pro636Leu)
c.2015C>T (p.Pro672Leu)
c.1979C>T (p.Pro660Leu)
c.1937C>T (p.Pro646Leu)
c.1679+6178C>T (n.1679+6178C>T)
c.2033C>T (p.Pro678Leu)
c.2099C>T (p.Pro700Leu)
c.2096C>T (p.Pro699Leu)
c.2069C>T (p.Pro690Leu)
c.1988C>T (p.Pro663Leu)
c.1973C>T (p.Pro658Leu)
c.1580C>T (p.Pro527Leu)
c.2042C>T (p.Pro681Leu)
c.1976C>T (p.Pro659Leu)
c.1934C>T (p.Pro645Leu)
c.1007C>T (p.Pro336Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407272G>CCA409639230KCNQ2c.2045C>G (p.Pro682Arg)
c.1991C>G (p.Pro664Arg)
c.1388C>G (p.Pro463Arg)
c.1898C>G (p.Pro633Arg)
c.1559C>G (p.Pro520Arg)
c.1907C>G (p.Pro636Arg)
c.2015C>G (p.Pro672Arg)
c.1979C>G (p.Pro660Arg)
c.1937C>G (p.Pro646Arg)
c.1679+6178C>G (n.1679+6178C>G)
c.2033C>G (p.Pro678Arg)
c.2099C>G (p.Pro700Arg)
c.2096C>G (p.Pro699Arg)
c.2069C>G (p.Pro690Arg)
c.1988C>G (p.Pro663Arg)
c.1973C>G (p.Pro658Arg)
c.1580C>G (p.Pro527Arg)
c.2042C>G (p.Pro681Arg)
c.1976C>G (p.Pro659Arg)
c.1934C>G (p.Pro645Arg)
c.1007C>G (p.Pro336Arg)
20g.63407272G=CA2374774521KCNQ2c.2045C= (p.Pro682=)
c.1991C= (p.Pro664=)
c.1388C= (p.Pro463=)
c.1898C= (p.Pro633=)
c.1559C= (p.Pro520=)
c.1907C= (p.Pro636=)
c.2015C= (p.Pro672=)
c.1979C= (p.Pro660=)
c.1937C= (p.Pro646=)
c.1679+6178C= (n.1679+6178C=)
c.2033C= (p.Pro678=)
c.2099C= (p.Pro700=)
c.2096C= (p.Pro699=)
c.2069C= (p.Pro690=)
c.1988C= (p.Pro663=)
c.1973C= (p.Pro658=)
c.1580C= (p.Pro527=)
c.2042C= (p.Pro681=)
c.1976C= (p.Pro659=)
c.1934C= (p.Pro645=)
c.1007C= (p.Pro336=)
20g.63407272G>TCA409639229KCNQ2c.2045C>A (p.Pro682Gln)
c.1991C>A (p.Pro664Gln)
c.1388C>A (p.Pro463Gln)
c.1898C>A (p.Pro633Gln)
c.1559C>A (p.Pro520Gln)
c.1907C>A (p.Pro636Gln)
c.2015C>A (p.Pro672Gln)
c.1979C>A (p.Pro660Gln)
c.1937C>A (p.Pro646Gln)
c.1679+6178C>A (n.1679+6178C>A)
c.2033C>A (p.Pro678Gln)
c.2099C>A (p.Pro700Gln)
c.2096C>A (p.Pro699Gln)
c.2069C>A (p.Pro690Gln)
c.1988C>A (p.Pro663Gln)
c.1973C>A (p.Pro658Gln)
c.1580C>A (p.Pro527Gln)
c.2042C>A (p.Pro681Gln)
c.1976C>A (p.Pro659Gln)
c.1934C>A (p.Pro645Gln)
c.1007C>A (p.Pro336Gln)
 gnomAD v4
20g.63407273G>ACA9958180KCNQ2c.2044C>T (p.Pro682Ser)
c.1990C>T (p.Pro664Ser)
c.1387C>T (p.Pro463Ser)
c.1897C>T (p.Pro633Ser)
c.1558C>T (p.Pro520Ser)
c.1906C>T (p.Pro636Ser)
c.2014C>T (p.Pro672Ser)
c.1978C>T (p.Pro660Ser)
c.1936C>T (p.Pro646Ser)
c.1679+6177C>T (n.1679+6177C>T)
c.2032C>T (p.Pro678Ser)
c.2098C>T (p.Pro700Ser)
c.2095C>T (p.Pro699Ser)
c.2068C>T (p.Pro690Ser)
c.1987C>T (p.Pro663Ser)
c.1972C>T (p.Pro658Ser)
c.1579C>T (p.Pro527Ser)
c.2041C>T (p.Pro681Ser)
c.1975C>T (p.Pro659Ser)
c.1933C>T (p.Pro645Ser)
c.1006C>T (p.Pro336Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407273G>CCA409639231KCNQ2c.2044C>G (p.Pro682Ala)
c.1990C>G (p.Pro664Ala)
c.1387C>G (p.Pro463Ala)
c.1897C>G (p.Pro633Ala)
c.1558C>G (p.Pro520Ala)
c.1906C>G (p.Pro636Ala)
c.2014C>G (p.Pro672Ala)
c.1978C>G (p.Pro660Ala)
c.1936C>G (p.Pro646Ala)
c.1679+6177C>G (n.1679+6177C>G)
c.2032C>G (p.Pro678Ala)
c.2098C>G (p.Pro700Ala)
c.2095C>G (p.Pro699Ala)
c.2068C>G (p.Pro690Ala)
c.1987C>G (p.Pro663Ala)
c.1972C>G (p.Pro658Ala)
c.1579C>G (p.Pro527Ala)
c.2041C>G (p.Pro681Ala)
c.1975C>G (p.Pro659Ala)
c.1933C>G (p.Pro645Ala)
c.1006C>G (p.Pro336Ala)
20g.63407273G=CA2374774522KCNQ2c.2044C= (p.Pro682=)
c.1990C= (p.Pro664=)
c.1387C= (p.Pro463=)
c.1897C= (p.Pro633=)
c.1558C= (p.Pro520=)
c.1906C= (p.Pro636=)
c.2014C= (p.Pro672=)
c.1978C= (p.Pro660=)
c.1936C= (p.Pro646=)
c.1679+6177C= (n.1679+6177C=)
c.2032C= (p.Pro678=)
c.2098C= (p.Pro700=)
c.2095C= (p.Pro699=)
c.2068C= (p.Pro690=)
c.1987C= (p.Pro663=)
c.1972C= (p.Pro658=)
c.1579C= (p.Pro527=)
c.2041C= (p.Pro681=)
c.1975C= (p.Pro659=)
c.1933C= (p.Pro645=)
c.1006C= (p.Pro336=)
20g.63407273G>TCA409639232KCNQ2c.2044C>A (p.Pro682Thr)
c.1990C>A (p.Pro664Thr)
c.1387C>A (p.Pro463Thr)
c.1897C>A (p.Pro633Thr)
c.1558C>A (p.Pro520Thr)
c.1906C>A (p.Pro636Thr)
c.2014C>A (p.Pro672Thr)
c.1978C>A (p.Pro660Thr)
c.1936C>A (p.Pro646Thr)
c.1679+6177C>A (n.1679+6177C>A)
c.2032C>A (p.Pro678Thr)
c.2098C>A (p.Pro700Thr)
c.2095C>A (p.Pro699Thr)
c.2068C>A (p.Pro690Thr)
c.1987C>A (p.Pro663Thr)
c.1972C>A (p.Pro658Thr)
c.1579C>A (p.Pro527Thr)
c.2041C>A (p.Pro681Thr)
c.1975C>A (p.Pro659Thr)
c.1933C>A (p.Pro645Thr)
c.1006C>A (p.Pro336Thr)
 dbSNP gnomAD v3 gnomAD v4
20g.63407274C>ACA409639233KCNQ2c.2043G>T (p.Glu681Asp)
c.1989G>T (p.Glu663Asp)
c.1386G>T (p.Glu462Asp)
c.1896G>T (p.Glu632Asp)
c.1557G>T (p.Glu519Asp)
c.1905G>T (p.Glu635Asp)
c.2013G>T (p.Glu671Asp)
c.1977G>T (p.Glu659Asp)
c.1935G>T (p.Glu645Asp)
c.1679+6176G>T (n.1679+6176G>T)
c.2031G>T (p.Glu677Asp)
c.2097G>T (p.Glu699Asp)
c.2094G>T (p.Glu698Asp)
c.2067G>T (p.Glu689Asp)
c.1986G>T (p.Glu662Asp)
c.1971G>T (p.Glu657Asp)
c.1578G>T (p.Glu526Asp)
c.2040G>T (p.Glu680Asp)
c.1974G>T (p.Glu658Asp)
c.1932G>T (p.Glu644Asp)
c.1005G>T (p.Glu335Asp)
20g.63407274C>GCA409639234KCNQ2c.2043G>C (p.Glu681Asp)
c.1989G>C (p.Glu663Asp)
c.1386G>C (p.Glu462Asp)
c.1896G>C (p.Glu632Asp)
c.1557G>C (p.Glu519Asp)
c.1905G>C (p.Glu635Asp)
c.2013G>C (p.Glu671Asp)
c.1977G>C (p.Glu659Asp)
c.1935G>C (p.Glu645Asp)
c.1679+6176G>C (n.1679+6176G>C)
c.2031G>C (p.Glu677Asp)
c.2097G>C (p.Glu699Asp)
c.2094G>C (p.Glu698Asp)
c.2067G>C (p.Glu689Asp)
c.1986G>C (p.Glu662Asp)
c.1971G>C (p.Glu657Asp)
c.1578G>C (p.Glu526Asp)
c.2040G>C (p.Glu680Asp)
c.1974G>C (p.Glu658Asp)
c.1932G>C (p.Glu644Asp)
c.1005G>C (p.Glu335Asp)
20g.63407274C>TCA511339540KCNQ2c.2043G>A (p.Glu681=)
c.1989G>A (p.Glu663=)
c.1386G>A (p.Glu462=)
c.1896G>A (p.Glu632=)
c.1557G>A (p.Glu519=)
c.1905G>A (p.Glu635=)
c.2013G>A (p.Glu671=)
c.1977G>A (p.Glu659=)
c.1935G>A (p.Glu645=)
c.1679+6176G>A (n.1679+6176G>A)
c.2031G>A (p.Glu677=)
c.2097G>A (p.Glu699=)
c.2094G>A (p.Glu698=)
c.2067G>A (p.Glu689=)
c.1986G>A (p.Glu662=)
c.1971G>A (p.Glu657=)
c.1578G>A (p.Glu526=)
c.2040G>A (p.Glu680=)
c.1974G>A (p.Glu658=)
c.1932G>A (p.Glu644=)
c.1005G>A (p.Glu335=)
20g.63407275T>ACA409639236KCNQ2c.2042A>T (p.Glu681Val)
c.1988A>T (p.Glu663Val)
c.1385A>T (p.Glu462Val)
c.1895A>T (p.Glu632Val)
c.1556A>T (p.Glu519Val)
c.1904A>T (p.Glu635Val)
c.2012A>T (p.Glu671Val)
c.1976A>T (p.Glu659Val)
c.1934A>T (p.Glu645Val)
c.1679+6175A>T (n.1679+6175A>T)
c.2030A>T (p.Glu677Val)
c.2096A>T (p.Glu699Val)
c.2093A>T (p.Glu698Val)
c.2066A>T (p.Glu689Val)
c.1985A>T (p.Glu662Val)
c.1970A>T (p.Glu657Val)
c.1577A>T (p.Glu526Val)
c.2039A>T (p.Glu680Val)
c.1973A>T (p.Glu658Val)
c.1931A>T (p.Glu644Val)
c.1004A>T (p.Glu335Val)
20g.63407275T>CCA315513KCNQ2c.2042A>G (p.Glu681Gly)
c.1988A>G (p.Glu663Gly)
c.1385A>G (p.Glu462Gly)
c.1895A>G (p.Glu632Gly)
c.1556A>G (p.Glu519Gly)
c.1904A>G (p.Glu635Gly)
c.2012A>G (p.Glu671Gly)
c.1976A>G (p.Glu659Gly)
c.1934A>G (p.Glu645Gly)
c.1679+6175A>G (n.1679+6175A>G)
c.2030A>G (p.Glu677Gly)
c.2096A>G (p.Glu699Gly)
c.2093A>G (p.Glu698Gly)
c.2066A>G (p.Glu689Gly)
c.1985A>G (p.Glu662Gly)
c.1970A>G (p.Glu657Gly)
c.1577A>G (p.Glu526Gly)
c.2039A>G (p.Glu680Gly)
c.1973A>G (p.Glu658Gly)
c.1931A>G (p.Glu644Gly)
c.1004A>G (p.Glu335Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407275T>GCA409639235KCNQ2c.2042A>C (p.Glu681Ala)
c.1988A>C (p.Glu663Ala)
c.1385A>C (p.Glu462Ala)
c.1895A>C (p.Glu632Ala)
c.1556A>C (p.Glu519Ala)
c.1904A>C (p.Glu635Ala)
c.2012A>C (p.Glu671Ala)
c.1976A>C (p.Glu659Ala)
c.1934A>C (p.Glu645Ala)
c.1679+6175A>C (n.1679+6175A>C)
c.2030A>C (p.Glu677Ala)
c.2096A>C (p.Glu699Ala)
c.2093A>C (p.Glu698Ala)
c.2066A>C (p.Glu689Ala)
c.1985A>C (p.Glu662Ala)
c.1970A>C (p.Glu657Ala)
c.1577A>C (p.Glu526Ala)
c.2039A>C (p.Glu680Ala)
c.1973A>C (p.Glu658Ala)
c.1931A>C (p.Glu644Ala)
c.1004A>C (p.Glu335Ala)
20g.63407275T=CA2374774523KCNQ2c.2042A= (p.Glu681=)
c.1988A= (p.Glu663=)
c.1385A= (p.Glu462=)
c.1895A= (p.Glu632=)
c.1556A= (p.Glu519=)
c.1904A= (p.Glu635=)
c.2012A= (p.Glu671=)
c.1976A= (p.Glu659=)
c.1934A= (p.Glu645=)
c.1679+6175A= (n.1679+6175A=)
c.2030A= (p.Glu677=)
c.2096A= (p.Glu699=)
c.2093A= (p.Glu698=)
c.2066A= (p.Glu689=)
c.1985A= (p.Glu662=)
c.1970A= (p.Glu657=)
c.1577A= (p.Glu526=)
c.2039A= (p.Glu680=)
c.1973A= (p.Glu658=)
c.1931A= (p.Glu644=)
c.1004A= (p.Glu335=)
20g.63407276C>ACA409639237KCNQ2c.2041G>T (p.Glu681Ter)
c.1987G>T (p.Glu663Ter)
c.1384G>T (p.Glu462Ter)
c.1894G>T (p.Glu632Ter)
c.1555G>T (p.Glu519Ter)
c.1903G>T (p.Glu635Ter)
c.2011G>T (p.Glu671Ter)
c.1975G>T (p.Glu659Ter)
c.1933G>T (p.Glu645Ter)
c.1679+6174G>T (n.1679+6174G>T)
c.2029G>T (p.Glu677Ter)
c.2095G>T (p.Glu699Ter)
c.2092G>T (p.Glu698Ter)
c.2065G>T (p.Glu689Ter)
c.1984G>T (p.Glu662Ter)
c.1969G>T (p.Glu657Ter)
c.1576G>T (p.Glu526Ter)
c.2038G>T (p.Glu680Ter)
c.1972G>T (p.Glu658Ter)
c.1930G>T (p.Glu644Ter)
c.1003G>T (p.Glu335Ter)
 gnomAD v4
20g.63407276C>GCA409639238KCNQ2c.2041G>C (p.Glu681Gln)
c.1987G>C (p.Glu663Gln)
c.1384G>C (p.Glu462Gln)
c.1894G>C (p.Glu632Gln)
c.1555G>C (p.Glu519Gln)
c.1903G>C (p.Glu635Gln)
c.2011G>C (p.Glu671Gln)
c.1975G>C (p.Glu659Gln)
c.1933G>C (p.Glu645Gln)
c.1679+6174G>C (n.1679+6174G>C)
c.2029G>C (p.Glu677Gln)
c.2095G>C (p.Glu699Gln)
c.2092G>C (p.Glu698Gln)
c.2065G>C (p.Glu689Gln)
c.1984G>C (p.Glu662Gln)
c.1969G>C (p.Glu657Gln)
c.1576G>C (p.Glu526Gln)
c.2038G>C (p.Glu680Gln)
c.1972G>C (p.Glu658Gln)
c.1930G>C (p.Glu644Gln)
c.1003G>C (p.Glu335Gln)
20g.63407276C>TCA409639239KCNQ2c.2041G>A (p.Glu681Lys)
c.1987G>A (p.Glu663Lys)
c.1384G>A (p.Glu462Lys)
c.1894G>A (p.Glu632Lys)
c.1555G>A (p.Glu519Lys)
c.1903G>A (p.Glu635Lys)
c.2011G>A (p.Glu671Lys)
c.1975G>A (p.Glu659Lys)
c.1933G>A (p.Glu645Lys)
c.1679+6174G>A (n.1679+6174G>A)
c.2029G>A (p.Glu677Lys)
c.2095G>A (p.Glu699Lys)
c.2092G>A (p.Glu698Lys)
c.2065G>A (p.Glu689Lys)
c.1984G>A (p.Glu662Lys)
c.1969G>A (p.Glu657Lys)
c.1576G>A (p.Glu526Lys)
c.2038G>A (p.Glu680Lys)
c.1972G>A (p.Glu658Lys)
c.1930G>A (p.Glu644Lys)
c.1003G>A (p.Glu335Lys)
20g.63407277T>ACA409639240KCNQ2c.2040A>T (p.Lys680Asn)
c.1986A>T (p.Lys662Asn)
c.1383A>T (p.Lys461Asn)
c.1893A>T (p.Lys631Asn)
c.1554A>T (p.Lys518Asn)
c.1902A>T (p.Lys634Asn)
c.2010A>T (p.Lys670Asn)
c.1974A>T (p.Lys658Asn)
c.1932A>T (p.Lys644Asn)
c.1679+6173A>T (n.1679+6173A>T)
c.2028A>T (p.Lys676Asn)
c.2094A>T (p.Lys698Asn)
c.2091A>T (p.Lys697Asn)
c.2064A>T (p.Lys688Asn)
c.1983A>T (p.Lys661Asn)
c.1968A>T (p.Lys656Asn)
c.1575A>T (p.Lys525Asn)
c.2037A>T (p.Lys679Asn)
c.1971A>T (p.Lys657Asn)
c.1929A>T (p.Lys643Asn)
c.1002A>T (p.Lys334Asn)
20g.63407277T>CCA511339541KCNQ2c.2040A>G (p.Lys680=)
c.1986A>G (p.Lys662=)
c.1383A>G (p.Lys461=)
c.1893A>G (p.Lys631=)
c.1554A>G (p.Lys518=)
c.1902A>G (p.Lys634=)
c.2010A>G (p.Lys670=)
c.1974A>G (p.Lys658=)
c.1932A>G (p.Lys644=)
c.1679+6173A>G (n.1679+6173A>G)
c.2028A>G (p.Lys676=)
c.2094A>G (p.Lys698=)
c.2091A>G (p.Lys697=)
c.2064A>G (p.Lys688=)
c.1983A>G (p.Lys661=)
c.1968A>G (p.Lys656=)
c.1575A>G (p.Lys525=)
c.2037A>G (p.Lys679=)
c.1971A>G (p.Lys657=)
c.1929A>G (p.Lys643=)
c.1002A>G (p.Lys334=)
20g.63407277T>GCA409639241KCNQ2c.2040A>C (p.Lys680Asn)
c.1986A>C (p.Lys662Asn)
c.1383A>C (p.Lys461Asn)
c.1893A>C (p.Lys631Asn)
c.1554A>C (p.Lys518Asn)
c.1902A>C (p.Lys634Asn)
c.2010A>C (p.Lys670Asn)
c.1974A>C (p.Lys658Asn)
c.1932A>C (p.Lys644Asn)
c.1679+6173A>C (n.1679+6173A>C)
c.2028A>C (p.Lys676Asn)
c.2094A>C (p.Lys698Asn)
c.2091A>C (p.Lys697Asn)
c.2064A>C (p.Lys688Asn)
c.1983A>C (p.Lys661Asn)
c.1968A>C (p.Lys656Asn)
c.1575A>C (p.Lys525Asn)
c.2037A>C (p.Lys679Asn)
c.1971A>C (p.Lys657Asn)
c.1929A>C (p.Lys643Asn)
c.1002A>C (p.Lys334Asn)
20g.63407278T>ACA409639242KCNQ2c.2039A>T (p.Lys680Ile)
c.1985A>T (p.Lys662Ile)
c.1382A>T (p.Lys461Ile)
c.1892A>T (p.Lys631Ile)
c.1553A>T (p.Lys518Ile)
c.1901A>T (p.Lys634Ile)
c.2009A>T (p.Lys670Ile)
c.1973A>T (p.Lys658Ile)
c.1931A>T (p.Lys644Ile)
c.1679+6172A>T (n.1679+6172A>T)
c.2027A>T (p.Lys676Ile)
c.2093A>T (p.Lys698Ile)
c.2090A>T (p.Lys697Ile)
c.2063A>T (p.Lys688Ile)
c.1982A>T (p.Lys661Ile)
c.1967A>T (p.Lys656Ile)
c.1574A>T (p.Lys525Ile)
c.2036A>T (p.Lys679Ile)
c.1970A>T (p.Lys657Ile)
c.1928A>T (p.Lys643Ile)
c.1001A>T (p.Lys334Ile)
20g.63407278T>CCA409639244KCNQ2c.2039A>G (p.Lys680Arg)
c.1985A>G (p.Lys662Arg)
c.1382A>G (p.Lys461Arg)
c.1892A>G (p.Lys631Arg)
c.1553A>G (p.Lys518Arg)
c.1901A>G (p.Lys634Arg)
c.2009A>G (p.Lys670Arg)
c.1973A>G (p.Lys658Arg)
c.1931A>G (p.Lys644Arg)
c.1679+6172A>G (n.1679+6172A>G)
c.2027A>G (p.Lys676Arg)
c.2093A>G (p.Lys698Arg)
c.2090A>G (p.Lys697Arg)
c.2063A>G (p.Lys688Arg)
c.1982A>G (p.Lys661Arg)
c.1967A>G (p.Lys656Arg)
c.1574A>G (p.Lys525Arg)
c.2036A>G (p.Lys679Arg)
c.1970A>G (p.Lys657Arg)
c.1928A>G (p.Lys643Arg)
c.1001A>G (p.Lys334Arg)
20g.63407278T>GCA409639243KCNQ2c.2039A>C (p.Lys680Thr)
c.1985A>C (p.Lys662Thr)
c.1382A>C (p.Lys461Thr)
c.1892A>C (p.Lys631Thr)
c.1553A>C (p.Lys518Thr)
c.1901A>C (p.Lys634Thr)
c.2009A>C (p.Lys670Thr)
c.1973A>C (p.Lys658Thr)
c.1931A>C (p.Lys644Thr)
c.1679+6172A>C (n.1679+6172A>C)
c.2027A>C (p.Lys676Thr)
c.2093A>C (p.Lys698Thr)
c.2090A>C (p.Lys697Thr)
c.2063A>C (p.Lys688Thr)
c.1982A>C (p.Lys661Thr)
c.1967A>C (p.Lys656Thr)
c.1574A>C (p.Lys525Thr)
c.2036A>C (p.Lys679Thr)
c.1970A>C (p.Lys657Thr)
c.1928A>C (p.Lys643Thr)
c.1001A>C (p.Lys334Thr)
20g.63407279T>ACA409639245KCNQ2c.2038A>T (p.Lys680Ter)
c.1984A>T (p.Lys662Ter)
c.1381A>T (p.Lys461Ter)
c.1891A>T (p.Lys631Ter)
c.1552A>T (p.Lys518Ter)
c.1900A>T (p.Lys634Ter)
c.2008A>T (p.Lys670Ter)
c.1972A>T (p.Lys658Ter)
c.1930A>T (p.Lys644Ter)
c.1679+6171A>T (n.1679+6171A>T)
c.2026A>T (p.Lys676Ter)
c.2092A>T (p.Lys698Ter)
c.2089A>T (p.Lys697Ter)
c.2062A>T (p.Lys688Ter)
c.1981A>T (p.Lys661Ter)
c.1966A>T (p.Lys656Ter)
c.1573A>T (p.Lys525Ter)
c.2035A>T (p.Lys679Ter)
c.1969A>T (p.Lys657Ter)
c.1927A>T (p.Lys643Ter)
c.1000A>T (p.Lys334Ter)
20g.63407279T>CCA409639246KCNQ2c.2038A>G (p.Lys680Glu)
c.1984A>G (p.Lys662Glu)
c.1381A>G (p.Lys461Glu)
c.1891A>G (p.Lys631Glu)
c.1552A>G (p.Lys518Glu)
c.1900A>G (p.Lys634Glu)
c.2008A>G (p.Lys670Glu)
c.1972A>G (p.Lys658Glu)
c.1930A>G (p.Lys644Glu)
c.1679+6171A>G (n.1679+6171A>G)
c.2026A>G (p.Lys676Glu)
c.2092A>G (p.Lys698Glu)
c.2089A>G (p.Lys697Glu)
c.2062A>G (p.Lys688Glu)
c.1981A>G (p.Lys661Glu)
c.1966A>G (p.Lys656Glu)
c.1573A>G (p.Lys525Glu)
c.2035A>G (p.Lys679Glu)
c.1969A>G (p.Lys657Glu)
c.1927A>G (p.Lys643Glu)
c.1000A>G (p.Lys334Glu)
20g.63407279T>GCA409639247KCNQ2c.2038A>C (p.Lys680Gln)
c.1984A>C (p.Lys662Gln)
c.1381A>C (p.Lys461Gln)
c.1891A>C (p.Lys631Gln)
c.1552A>C (p.Lys518Gln)
c.1900A>C (p.Lys634Gln)
c.2008A>C (p.Lys670Gln)
c.1972A>C (p.Lys658Gln)
c.1930A>C (p.Lys644Gln)
c.1679+6171A>C (n.1679+6171A>C)
c.2026A>C (p.Lys676Gln)
c.2092A>C (p.Lys698Gln)
c.2089A>C (p.Lys697Gln)
c.2062A>C (p.Lys688Gln)
c.1981A>C (p.Lys661Gln)
c.1966A>C (p.Lys656Gln)
c.1573A>C (p.Lys525Gln)
c.2035A>C (p.Lys679Gln)
c.1969A>C (p.Lys657Gln)
c.1927A>C (p.Lys643Gln)
c.1000A>C (p.Lys334Gln)
20g.63407280G>ACA511339543KCNQ2c.2037C>T (p.Ala679=)
c.1983C>T (p.Ala661=)
c.1380C>T (p.Ala460=)
c.1890C>T (p.Ala630=)
c.1551C>T (p.Ala517=)
c.1899C>T (p.Ala633=)
c.2007C>T (p.Ala669=)
c.1971C>T (p.Ala657=)
c.1929C>T (p.Ala643=)
c.1679+6170C>T (n.1679+6170C>T)
c.2025C>T (p.Ala675=)
c.2091C>T (p.Ala697=)
c.2088C>T (p.Ala696=)
c.2061C>T (p.Ala687=)
c.1980C>T (p.Ala660=)
c.1965C>T (p.Ala655=)
c.1572C>T (p.Ala524=)
c.2034C>T (p.Ala678=)
c.1968C>T (p.Ala656=)
c.1926C>T (p.Ala642=)
c.999C>T (p.Ala333=)
 gnomAD v4
20g.63407280G>CCA511339544KCNQ2c.2037C>G (p.Ala679=)
c.1983C>G (p.Ala661=)
c.1380C>G (p.Ala460=)
c.1890C>G (p.Ala630=)
c.1551C>G (p.Ala517=)
c.1899C>G (p.Ala633=)
c.2007C>G (p.Ala669=)
c.1971C>G (p.Ala657=)
c.1929C>G (p.Ala643=)
c.1679+6170C>G (n.1679+6170C>G)
c.2025C>G (p.Ala675=)
c.2091C>G (p.Ala697=)
c.2088C>G (p.Ala696=)
c.2061C>G (p.Ala687=)
c.1980C>G (p.Ala660=)
c.1965C>G (p.Ala655=)
c.1572C>G (p.Ala524=)
c.2034C>G (p.Ala678=)
c.1968C>G (p.Ala656=)
c.1926C>G (p.Ala642=)
c.999C>G (p.Ala333=)
20g.63407280G>TCA511339542KCNQ2c.2037C>A (p.Ala679=)
c.1983C>A (p.Ala661=)
c.1380C>A (p.Ala460=)
c.1890C>A (p.Ala630=)
c.1551C>A (p.Ala517=)
c.1899C>A (p.Ala633=)
c.2007C>A (p.Ala669=)
c.1971C>A (p.Ala657=)
c.1929C>A (p.Ala643=)
c.1679+6170C>A (n.1679+6170C>A)
c.2025C>A (p.Ala675=)
c.2091C>A (p.Ala697=)
c.2088C>A (p.Ala696=)
c.2061C>A (p.Ala687=)
c.1980C>A (p.Ala660=)
c.1965C>A (p.Ala655=)
c.1572C>A (p.Ala524=)
c.2034C>A (p.Ala678=)
c.1968C>A (p.Ala656=)
c.1926C>A (p.Ala642=)
c.999C>A (p.Ala333=)
 gnomAD v4
20g.63407281G>ACA409639248KCNQ2c.2036C>T (p.Ala679Val)
c.1982C>T (p.Ala661Val)
c.1379C>T (p.Ala460Val)
c.1889C>T (p.Ala630Val)
c.1550C>T (p.Ala517Val)
c.1898C>T (p.Ala633Val)
c.2006C>T (p.Ala669Val)
c.1970C>T (p.Ala657Val)
c.1928C>T (p.Ala643Val)
c.1679+6169C>T (n.1679+6169C>T)
c.2024C>T (p.Ala675Val)
c.2090C>T (p.Ala697Val)
c.2087C>T (p.Ala696Val)
c.2060C>T (p.Ala687Val)
c.1979C>T (p.Ala660Val)
c.1964C>T (p.Ala655Val)
c.1571C>T (p.Ala524Val)
c.2033C>T (p.Ala678Val)
c.1967C>T (p.Ala656Val)
c.1925C>T (p.Ala642Val)
c.998C>T (p.Ala333Val)
20g.63407281G>CCA409639249KCNQ2c.2036C>G (p.Ala679Gly)
c.1982C>G (p.Ala661Gly)
c.1379C>G (p.Ala460Gly)
c.1889C>G (p.Ala630Gly)
c.1550C>G (p.Ala517Gly)
c.1898C>G (p.Ala633Gly)
c.2006C>G (p.Ala669Gly)
c.1970C>G (p.Ala657Gly)
c.1928C>G (p.Ala643Gly)
c.1679+6169C>G (n.1679+6169C>G)
c.2024C>G (p.Ala675Gly)
c.2090C>G (p.Ala697Gly)
c.2087C>G (p.Ala696Gly)
c.2060C>G (p.Ala687Gly)
c.1979C>G (p.Ala660Gly)
c.1964C>G (p.Ala655Gly)
c.1571C>G (p.Ala524Gly)
c.2033C>G (p.Ala678Gly)
c.1967C>G (p.Ala656Gly)
c.1925C>G (p.Ala642Gly)
c.998C>G (p.Ala333Gly)
20g.63407281G>TCA409639250KCNQ2c.2036C>A (p.Ala679Asp)
c.1982C>A (p.Ala661Asp)
c.1379C>A (p.Ala460Asp)
c.1889C>A (p.Ala630Asp)
c.1550C>A (p.Ala517Asp)
c.1898C>A (p.Ala633Asp)
c.2006C>A (p.Ala669Asp)
c.1970C>A (p.Ala657Asp)
c.1928C>A (p.Ala643Asp)
c.1679+6169C>A (n.1679+6169C>A)
c.2024C>A (p.Ala675Asp)
c.2090C>A (p.Ala697Asp)
c.2087C>A (p.Ala696Asp)
c.2060C>A (p.Ala687Asp)
c.1979C>A (p.Ala660Asp)
c.1964C>A (p.Ala655Asp)
c.1571C>A (p.Ala524Asp)
c.2033C>A (p.Ala678Asp)
c.1967C>A (p.Ala656Asp)
c.1925C>A (p.Ala642Asp)
c.998C>A (p.Ala333Asp)
 gnomAD v4
20g.63407282C>ACA409639251KCNQ2c.2035G>T (p.Ala679Ser)
c.1981G>T (p.Ala661Ser)
c.1378G>T (p.Ala460Ser)
c.1888G>T (p.Ala630Ser)
c.1549G>T (p.Ala517Ser)
c.1897G>T (p.Ala633Ser)
c.2005G>T (p.Ala669Ser)
c.1969G>T (p.Ala657Ser)
c.1927G>T (p.Ala643Ser)
c.1679+6168G>T (n.1679+6168G>T)
c.2023G>T (p.Ala675Ser)
c.2089G>T (p.Ala697Ser)
c.2086G>T (p.Ala696Ser)
c.2059G>T (p.Ala687Ser)
c.1978G>T (p.Ala660Ser)
c.1963G>T (p.Ala655Ser)
c.1570G>T (p.Ala524Ser)
c.2032G>T (p.Ala678Ser)
c.1966G>T (p.Ala656Ser)
c.1924G>T (p.Ala642Ser)
c.997G>T (p.Ala333Ser)
 gnomAD v4
20g.63407282C>GCA409639253KCNQ2c.2035G>C (p.Ala679Pro)
c.1981G>C (p.Ala661Pro)
c.1378G>C (p.Ala460Pro)
c.1888G>C (p.Ala630Pro)
c.1549G>C (p.Ala517Pro)
c.1897G>C (p.Ala633Pro)
c.2005G>C (p.Ala669Pro)
c.1969G>C (p.Ala657Pro)
c.1927G>C (p.Ala643Pro)
c.1679+6168G>C (n.1679+6168G>C)
c.2023G>C (p.Ala675Pro)
c.2089G>C (p.Ala697Pro)
c.2086G>C (p.Ala696Pro)
c.2059G>C (p.Ala687Pro)
c.1978G>C (p.Ala660Pro)
c.1963G>C (p.Ala655Pro)
c.1570G>C (p.Ala524Pro)
c.2032G>C (p.Ala678Pro)
c.1966G>C (p.Ala656Pro)
c.1924G>C (p.Ala642Pro)
c.997G>C (p.Ala333Pro)
20g.63407282C>TCA409639256KCNQ2c.2035G>A (p.Ala679Thr)
c.1981G>A (p.Ala661Thr)
c.1378G>A (p.Ala460Thr)
c.1888G>A (p.Ala630Thr)
c.1549G>A (p.Ala517Thr)
c.1897G>A (p.Ala633Thr)
c.2005G>A (p.Ala669Thr)
c.1969G>A (p.Ala657Thr)
c.1927G>A (p.Ala643Thr)
c.1679+6168G>A (n.1679+6168G>A)
c.2023G>A (p.Ala675Thr)
c.2089G>A (p.Ala697Thr)
c.2086G>A (p.Ala696Thr)
c.2059G>A (p.Ala687Thr)
c.1978G>A (p.Ala660Thr)
c.1963G>A (p.Ala655Thr)
c.1570G>A (p.Ala524Thr)
c.2032G>A (p.Ala678Thr)
c.1966G>A (p.Ala656Thr)
c.1924G>A (p.Ala642Thr)
c.997G>A (p.Ala333Thr)
20g.63407283C>ACA511339547KCNQ2c.2034G>T (p.Gly678=)
c.1980G>T (p.Gly660=)
c.1377G>T (p.Gly459=)
c.1887G>T (p.Gly629=)
c.1548G>T (p.Gly516=)
c.1896G>T (p.Gly632=)
c.2004G>T (p.Gly668=)
c.1968G>T (p.Gly656=)
c.1926G>T (p.Gly642=)
c.1679+6167G>T (n.1679+6167G>T)
c.2022G>T (p.Gly674=)
c.2088G>T (p.Gly696=)
c.2085G>T (p.Gly695=)
c.2058G>T (p.Gly686=)
c.1977G>T (p.Gly659=)
c.1962G>T (p.Gly654=)
c.1569G>T (p.Gly523=)
c.2031G>T (p.Gly677=)
c.1965G>T (p.Gly655=)
c.1923G>T (p.Gly641=)
c.996G>T (p.Gly332=)
20g.63407283C>GCA511339545KCNQ2c.2034G>C (p.Gly678=)
c.1980G>C (p.Gly660=)
c.1377G>C (p.Gly459=)
c.1887G>C (p.Gly629=)
c.1548G>C (p.Gly516=)
c.1896G>C (p.Gly632=)
c.2004G>C (p.Gly668=)
c.1968G>C (p.Gly656=)
c.1926G>C (p.Gly642=)
c.1679+6167G>C (n.1679+6167G>C)
c.2022G>C (p.Gly674=)
c.2088G>C (p.Gly696=)
c.2085G>C (p.Gly695=)
c.2058G>C (p.Gly686=)
c.1977G>C (p.Gly659=)
c.1962G>C (p.Gly654=)
c.1569G>C (p.Gly523=)
c.2031G>C (p.Gly677=)
c.1965G>C (p.Gly655=)
c.1923G>C (p.Gly641=)
c.996G>C (p.Gly332=)
20g.63407283C>TCA511339546KCNQ2c.2034G>A (p.Gly678=)
c.1980G>A (p.Gly660=)
c.1377G>A (p.Gly459=)
c.1887G>A (p.Gly629=)
c.1548G>A (p.Gly516=)
c.1896G>A (p.Gly632=)
c.2004G>A (p.Gly668=)
c.1968G>A (p.Gly656=)
c.1926G>A (p.Gly642=)
c.1679+6167G>A (n.1679+6167G>A)
c.2022G>A (p.Gly674=)
c.2088G>A (p.Gly696=)
c.2085G>A (p.Gly695=)
c.2058G>A (p.Gly686=)
c.1977G>A (p.Gly659=)
c.1962G>A (p.Gly654=)
c.1569G>A (p.Gly523=)
c.2031G>A (p.Gly677=)
c.1965G>A (p.Gly655=)
c.1923G>A (p.Gly641=)
c.996G>A (p.Gly332=)
20g.63407284C>ACA409639258KCNQ2c.2033G>T (p.Gly678Val)
c.1979G>T (p.Gly660Val)
c.1376G>T (p.Gly459Val)
c.1886G>T (p.Gly629Val)
c.1547G>T (p.Gly516Val)
c.1895G>T (p.Gly632Val)
c.2003G>T (p.Gly668Val)
c.1967G>T (p.Gly656Val)
c.1925G>T (p.Gly642Val)
c.1679+6166G>T (n.1679+6166G>T)
c.2021G>T (p.Gly674Val)
c.2087G>T (p.Gly696Val)
c.2084G>T (p.Gly695Val)
c.2057G>T (p.Gly686Val)
c.1976G>T (p.Gly659Val)
c.1961G>T (p.Gly654Val)
c.1568G>T (p.Gly523Val)
c.2030G>T (p.Gly677Val)
c.1964G>T (p.Gly655Val)
c.1922G>T (p.Gly641Val)
c.995G>T (p.Gly332Val)
 dbSNP gnomAD v3 gnomAD v4
20g.63407284C=CA2374774524KCNQ2c.2033G= (p.Gly678=)
c.1979G= (p.Gly660=)
c.1376G= (p.Gly459=)
c.1886G= (p.Gly629=)
c.1547G= (p.Gly516=)
c.1895G= (p.Gly632=)
c.2003G= (p.Gly668=)
c.1967G= (p.Gly656=)
c.1925G= (p.Gly642=)
c.1679+6166G= (n.1679+6166G=)
c.2021G= (p.Gly674=)
c.2087G= (p.Gly696=)
c.2084G= (p.Gly695=)
c.2057G= (p.Gly686=)
c.1976G= (p.Gly659=)
c.1961G= (p.Gly654=)
c.1568G= (p.Gly523=)
c.2030G= (p.Gly677=)
c.1964G= (p.Gly655=)
c.1922G= (p.Gly641=)
c.995G= (p.Gly332=)
20g.63407284C>GCA409639259KCNQ2c.2033G>C (p.Gly678Ala)
c.1979G>C (p.Gly660Ala)
c.1376G>C (p.Gly459Ala)
c.1886G>C (p.Gly629Ala)
c.1547G>C (p.Gly516Ala)
c.1895G>C (p.Gly632Ala)
c.2003G>C (p.Gly668Ala)
c.1967G>C (p.Gly656Ala)
c.1925G>C (p.Gly642Ala)
c.1679+6166G>C (n.1679+6166G>C)
c.2021G>C (p.Gly674Ala)
c.2087G>C (p.Gly696Ala)
c.2084G>C (p.Gly695Ala)
c.2057G>C (p.Gly686Ala)
c.1976G>C (p.Gly659Ala)
c.1961G>C (p.Gly654Ala)
c.1568G>C (p.Gly523Ala)
c.2030G>C (p.Gly677Ala)
c.1964G>C (p.Gly655Ala)
c.1922G>C (p.Gly641Ala)
c.995G>C (p.Gly332Ala)
20g.63407284C>TCA409639260KCNQ2c.2033G>A (p.Gly678Glu)
c.1979G>A (p.Gly660Glu)
c.1376G>A (p.Gly459Glu)
c.1886G>A (p.Gly629Glu)
c.1547G>A (p.Gly516Glu)
c.1895G>A (p.Gly632Glu)
c.2003G>A (p.Gly668Glu)
c.1967G>A (p.Gly656Glu)
c.1925G>A (p.Gly642Glu)
c.1679+6166G>A (n.1679+6166G>A)
c.2021G>A (p.Gly674Glu)
c.2087G>A (p.Gly696Glu)
c.2084G>A (p.Gly695Glu)
c.2057G>A (p.Gly686Glu)
c.1976G>A (p.Gly659Glu)
c.1961G>A (p.Gly654Glu)
c.1568G>A (p.Gly523Glu)
c.2030G>A (p.Gly677Glu)
c.1964G>A (p.Gly655Glu)
c.1922G>A (p.Gly641Glu)
c.995G>A (p.Gly332Glu)
20g.63407285C>ACA409639266KCNQ2c.2032G>T (p.Gly678Trp)
c.1978G>T (p.Gly660Trp)
c.1375G>T (p.Gly459Trp)
c.1885G>T (p.Gly629Trp)
c.1546G>T (p.Gly516Trp)
c.1894G>T (p.Gly632Trp)
c.2002G>T (p.Gly668Trp)
c.1966G>T (p.Gly656Trp)
c.1924G>T (p.Gly642Trp)
c.1679+6165G>T (n.1679+6165G>T)
c.2020G>T (p.Gly674Trp)
c.2086G>T (p.Gly696Trp)
c.2083G>T (p.Gly695Trp)
c.2056G>T (p.Gly686Trp)
c.1975G>T (p.Gly659Trp)
c.1960G>T (p.Gly654Trp)
c.1567G>T (p.Gly523Trp)
c.2029G>T (p.Gly677Trp)
c.1963G>T (p.Gly655Trp)
c.1921G>T (p.Gly641Trp)
c.994G>T (p.Gly332Trp)
 gnomAD v4
20g.63407285C=CA2374774525KCNQ2c.2032G= (p.Gly678=)
c.1978G= (p.Gly660=)
c.1375G= (p.Gly459=)
c.1885G= (p.Gly629=)
c.1546G= (p.Gly516=)
c.1894G= (p.Gly632=)
c.2002G= (p.Gly668=)
c.1966G= (p.Gly656=)
c.1924G= (p.Gly642=)
c.1679+6165G= (n.1679+6165G=)
c.2020G= (p.Gly674=)
c.2086G= (p.Gly696=)
c.2083G= (p.Gly695=)
c.2056G= (p.Gly686=)
c.1975G= (p.Gly659=)
c.1960G= (p.Gly654=)
c.1567G= (p.Gly523=)
c.2029G= (p.Gly677=)
c.1963G= (p.Gly655=)
c.1921G= (p.Gly641=)
c.994G= (p.Gly332=)
20g.63407285C>GCA409639265KCNQ2c.2032G>C (p.Gly678Arg)
c.1978G>C (p.Gly660Arg)
c.1375G>C (p.Gly459Arg)
c.1885G>C (p.Gly629Arg)
c.1546G>C (p.Gly516Arg)
c.1894G>C (p.Gly632Arg)
c.2002G>C (p.Gly668Arg)
c.1966G>C (p.Gly656Arg)
c.1924G>C (p.Gly642Arg)
c.1679+6165G>C (n.1679+6165G>C)
c.2020G>C (p.Gly674Arg)
c.2086G>C (p.Gly696Arg)
c.2083G>C (p.Gly695Arg)
c.2056G>C (p.Gly686Arg)
c.1975G>C (p.Gly659Arg)
c.1960G>C (p.Gly654Arg)
c.1567G>C (p.Gly523Arg)
c.2029G>C (p.Gly677Arg)
c.1963G>C (p.Gly655Arg)
c.1921G>C (p.Gly641Arg)
c.994G>C (p.Gly332Arg)
20g.63407285C>TCA409639264KCNQ2c.2032G>A (p.Gly678Arg)
c.1978G>A (p.Gly660Arg)
c.1375G>A (p.Gly459Arg)
c.1885G>A (p.Gly629Arg)
c.1546G>A (p.Gly516Arg)
c.1894G>A (p.Gly632Arg)
c.2002G>A (p.Gly668Arg)
c.1966G>A (p.Gly656Arg)
c.1924G>A (p.Gly642Arg)
c.1679+6165G>A (n.1679+6165G>A)
c.2020G>A (p.Gly674Arg)
c.2086G>A (p.Gly696Arg)
c.2083G>A (p.Gly695Arg)
c.2056G>A (p.Gly686Arg)
c.1975G>A (p.Gly659Arg)
c.1960G>A (p.Gly654Arg)
c.1567G>A (p.Gly523Arg)
c.2029G>A (p.Gly677Arg)
c.1963G>A (p.Gly655Arg)
c.1921G>A (p.Gly641Arg)
c.994G>A (p.Gly332Arg)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched