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.63407130C>ACA409638895KCNQ2c.2187G>T (p.Gln729His)
c.2133G>T (p.Gln711His)
c.1530G>T (p.Gln510His)
c.2040G>T (p.Gln680His)
c.1701G>T (p.Gln567His)
c.2049G>T (p.Gln683His)
c.2157G>T (p.Gln719His)
c.2121G>T (p.Gln707His)
c.2079G>T (p.Gln693His)
c.1680-6287G>T (n.1680-6287G>T)
c.2175G>T (p.Gln725His)
c.2241G>T (p.Gln747His)
c.2238G>T (p.Gln746His)
c.2211G>T (p.Gln737His)
c.2130G>T (p.Gln710His)
c.2115G>T (p.Gln705His)
c.1722G>T (p.Gln574His)
c.2184G>T (p.Gln728His)
c.2118G>T (p.Gln706His)
c.2076G>T (p.Gln692His)
c.1149G>T (p.Gln383His)
 gnomAD v4
20g.63407130C=CA2374774431KCNQ2c.2187G= (p.Gln729=)
c.2133G= (p.Gln711=)
c.1530G= (p.Gln510=)
c.2040G= (p.Gln680=)
c.1701G= (p.Gln567=)
c.2049G= (p.Gln683=)
c.2157G= (p.Gln719=)
c.2121G= (p.Gln707=)
c.2079G= (p.Gln693=)
c.1680-6287G= (n.1680-6287G=)
c.2175G= (p.Gln725=)
c.2241G= (p.Gln747=)
c.2238G= (p.Gln746=)
c.2211G= (p.Gln737=)
c.2130G= (p.Gln710=)
c.2115G= (p.Gln705=)
c.1722G= (p.Gln574=)
c.2184G= (p.Gln728=)
c.2118G= (p.Gln706=)
c.2076G= (p.Gln692=)
c.1149G= (p.Gln383=)
20g.63407130C>GCA409638897KCNQ2c.2187G>C (p.Gln729His)
c.2133G>C (p.Gln711His)
c.1530G>C (p.Gln510His)
c.2040G>C (p.Gln680His)
c.1701G>C (p.Gln567His)
c.2049G>C (p.Gln683His)
c.2157G>C (p.Gln719His)
c.2121G>C (p.Gln707His)
c.2079G>C (p.Gln693His)
c.1680-6287G>C (n.1680-6287G>C)
c.2175G>C (p.Gln725His)
c.2241G>C (p.Gln747His)
c.2238G>C (p.Gln746His)
c.2211G>C (p.Gln737His)
c.2130G>C (p.Gln710His)
c.2115G>C (p.Gln705His)
c.1722G>C (p.Gln574His)
c.2184G>C (p.Gln728His)
c.2118G>C (p.Gln706His)
c.2076G>C (p.Gln692His)
c.1149G>C (p.Gln383His)
20g.63407130C>TCA317422227KCNQ2c.2187G>A (p.Gln729=)
c.2133G>A (p.Gln711=)
c.1530G>A (p.Gln510=)
c.2040G>A (p.Gln680=)
c.1701G>A (p.Gln567=)
c.2049G>A (p.Gln683=)
c.2157G>A (p.Gln719=)
c.2121G>A (p.Gln707=)
c.2079G>A (p.Gln693=)
c.1680-6287G>A (n.1680-6287G>A)
c.2175G>A (p.Gln725=)
c.2241G>A (p.Gln747=)
c.2238G>A (p.Gln746=)
c.2211G>A (p.Gln737=)
c.2130G>A (p.Gln710=)
c.2115G>A (p.Gln705=)
c.1722G>A (p.Gln574=)
c.2184G>A (p.Gln728=)
c.2118G>A (p.Gln706=)
c.2076G>A (p.Gln692=)
c.1149G>A (p.Gln383=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407131T>ACA409638903KCNQ2c.2186A>T (p.Gln729Leu)
c.2132A>T (p.Gln711Leu)
c.1529A>T (p.Gln510Leu)
c.2039A>T (p.Gln680Leu)
c.1700A>T (p.Gln567Leu)
c.2048A>T (p.Gln683Leu)
c.2156A>T (p.Gln719Leu)
c.2120A>T (p.Gln707Leu)
c.2078A>T (p.Gln693Leu)
c.1680-6288A>T (n.1680-6288A>T)
c.2174A>T (p.Gln725Leu)
c.2240A>T (p.Gln747Leu)
c.2237A>T (p.Gln746Leu)
c.2210A>T (p.Gln737Leu)
c.2129A>T (p.Gln710Leu)
c.2114A>T (p.Gln705Leu)
c.1721A>T (p.Gln574Leu)
c.2183A>T (p.Gln728Leu)
c.2117A>T (p.Gln706Leu)
c.2075A>T (p.Gln692Leu)
c.1148A>T (p.Gln383Leu)
 gnomAD v4
20g.63407131T>CCA409638901KCNQ2c.2186A>G (p.Gln729Arg)
c.2132A>G (p.Gln711Arg)
c.1529A>G (p.Gln510Arg)
c.2039A>G (p.Gln680Arg)
c.1700A>G (p.Gln567Arg)
c.2048A>G (p.Gln683Arg)
c.2156A>G (p.Gln719Arg)
c.2120A>G (p.Gln707Arg)
c.2078A>G (p.Gln693Arg)
c.1680-6288A>G (n.1680-6288A>G)
c.2174A>G (p.Gln725Arg)
c.2240A>G (p.Gln747Arg)
c.2237A>G (p.Gln746Arg)
c.2210A>G (p.Gln737Arg)
c.2129A>G (p.Gln710Arg)
c.2114A>G (p.Gln705Arg)
c.1721A>G (p.Gln574Arg)
c.2183A>G (p.Gln728Arg)
c.2117A>G (p.Gln706Arg)
c.2075A>G (p.Gln692Arg)
c.1148A>G (p.Gln383Arg)
 gnomAD v4
20g.63407131T>GCA409638900KCNQ2c.2186A>C (p.Gln729Pro)
c.2132A>C (p.Gln711Pro)
c.1529A>C (p.Gln510Pro)
c.2039A>C (p.Gln680Pro)
c.1700A>C (p.Gln567Pro)
c.2048A>C (p.Gln683Pro)
c.2156A>C (p.Gln719Pro)
c.2120A>C (p.Gln707Pro)
c.2078A>C (p.Gln693Pro)
c.1680-6288A>C (n.1680-6288A>C)
c.2174A>C (p.Gln725Pro)
c.2240A>C (p.Gln747Pro)
c.2237A>C (p.Gln746Pro)
c.2210A>C (p.Gln737Pro)
c.2129A>C (p.Gln710Pro)
c.2114A>C (p.Gln705Pro)
c.1721A>C (p.Gln574Pro)
c.2183A>C (p.Gln728Pro)
c.2117A>C (p.Gln706Pro)
c.2075A>C (p.Gln692Pro)
c.1148A>C (p.Gln383Pro)
 ClinVar dbSNP gnomAD v4
20g.63407132G>ACA409638906KCNQ2c.2185C>T (p.Gln729Ter)
c.2131C>T (p.Gln711Ter)
c.1528C>T (p.Gln510Ter)
c.2038C>T (p.Gln680Ter)
c.1699C>T (p.Gln567Ter)
c.2047C>T (p.Gln683Ter)
c.2155C>T (p.Gln719Ter)
c.2119C>T (p.Gln707Ter)
c.2077C>T (p.Gln693Ter)
c.1680-6289C>T (n.1680-6289C>T)
c.2173C>T (p.Gln725Ter)
c.2239C>T (p.Gln747Ter)
c.2236C>T (p.Gln746Ter)
c.2209C>T (p.Gln737Ter)
c.2128C>T (p.Gln710Ter)
c.2113C>T (p.Gln705Ter)
c.1720C>T (p.Gln574Ter)
c.2182C>T (p.Gln728Ter)
c.2116C>T (p.Gln706Ter)
c.2074C>T (p.Gln692Ter)
c.1147C>T (p.Gln383Ter)
 COSMIC COSMIC COSMIC
20g.63407132G>CCA409638910KCNQ2c.2185C>G (p.Gln729Glu)
c.2131C>G (p.Gln711Glu)
c.1528C>G (p.Gln510Glu)
c.2038C>G (p.Gln680Glu)
c.1699C>G (p.Gln567Glu)
c.2047C>G (p.Gln683Glu)
c.2155C>G (p.Gln719Glu)
c.2119C>G (p.Gln707Glu)
c.2077C>G (p.Gln693Glu)
c.1680-6289C>G (n.1680-6289C>G)
c.2173C>G (p.Gln725Glu)
c.2239C>G (p.Gln747Glu)
c.2236C>G (p.Gln746Glu)
c.2209C>G (p.Gln737Glu)
c.2128C>G (p.Gln710Glu)
c.2113C>G (p.Gln705Glu)
c.1720C>G (p.Gln574Glu)
c.2182C>G (p.Gln728Glu)
c.2116C>G (p.Gln706Glu)
c.2074C>G (p.Gln692Glu)
c.1147C>G (p.Gln383Glu)
20g.63407132G>TCA409638907KCNQ2c.2185C>A (p.Gln729Lys)
c.2131C>A (p.Gln711Lys)
c.1528C>A (p.Gln510Lys)
c.2038C>A (p.Gln680Lys)
c.1699C>A (p.Gln567Lys)
c.2047C>A (p.Gln683Lys)
c.2155C>A (p.Gln719Lys)
c.2119C>A (p.Gln707Lys)
c.2077C>A (p.Gln693Lys)
c.1680-6289C>A (n.1680-6289C>A)
c.2173C>A (p.Gln725Lys)
c.2239C>A (p.Gln747Lys)
c.2236C>A (p.Gln746Lys)
c.2209C>A (p.Gln737Lys)
c.2128C>A (p.Gln710Lys)
c.2113C>A (p.Gln705Lys)
c.1720C>A (p.Gln574Lys)
c.2182C>A (p.Gln728Lys)
c.2116C>A (p.Gln706Lys)
c.2074C>A (p.Gln692Lys)
c.1147C>A (p.Gln383Lys)
 gnomAD v4
20g.63407133G>ACA511339532KCNQ2c.2184C>T (p.Val728=)
c.2130C>T (p.Val710=)
c.1527C>T (p.Val509=)
c.2037C>T (p.Val679=)
c.1698C>T (p.Val566=)
c.2046C>T (p.Val682=)
c.2154C>T (p.Val718=)
c.2118C>T (p.Val706=)
c.2076C>T (p.Val692=)
c.1680-6290C>T (n.1680-6290C>T)
c.2172C>T (p.Val724=)
c.2238C>T (p.Val746=)
c.2235C>T (p.Val745=)
c.2208C>T (p.Val736=)
c.2127C>T (p.Val709=)
c.2112C>T (p.Val704=)
c.1719C>T (p.Val573=)
c.2181C>T (p.Val727=)
c.2115C>T (p.Val705=)
c.2073C>T (p.Val691=)
c.1146C>T (p.Val382=)
 gnomAD v4
20g.63407133G>CCA511339530KCNQ2c.2184C>G (p.Val728=)
c.2130C>G (p.Val710=)
c.1527C>G (p.Val509=)
c.2037C>G (p.Val679=)
c.1698C>G (p.Val566=)
c.2046C>G (p.Val682=)
c.2154C>G (p.Val718=)
c.2118C>G (p.Val706=)
c.2076C>G (p.Val692=)
c.1680-6290C>G (n.1680-6290C>G)
c.2172C>G (p.Val724=)
c.2238C>G (p.Val746=)
c.2235C>G (p.Val745=)
c.2208C>G (p.Val736=)
c.2127C>G (p.Val709=)
c.2112C>G (p.Val704=)
c.1719C>G (p.Val573=)
c.2181C>G (p.Val727=)
c.2115C>G (p.Val705=)
c.2073C>G (p.Val691=)
c.1146C>G (p.Val382=)
20g.63407133G>TCA511339531KCNQ2c.2184C>A (p.Val728=)
c.2130C>A (p.Val710=)
c.1527C>A (p.Val509=)
c.2037C>A (p.Val679=)
c.1698C>A (p.Val566=)
c.2046C>A (p.Val682=)
c.2154C>A (p.Val718=)
c.2118C>A (p.Val706=)
c.2076C>A (p.Val692=)
c.1680-6290C>A (n.1680-6290C>A)
c.2172C>A (p.Val724=)
c.2238C>A (p.Val746=)
c.2235C>A (p.Val745=)
c.2208C>A (p.Val736=)
c.2127C>A (p.Val709=)
c.2112C>A (p.Val704=)
c.1719C>A (p.Val573=)
c.2181C>A (p.Val727=)
c.2115C>A (p.Val705=)
c.2073C>A (p.Val691=)
c.1146C>A (p.Val382=)
 gnomAD v4
20g.63407134A=CA2374774432KCNQ2c.2183T= (p.Val728=)
c.2129T= (p.Val710=)
c.1526T= (p.Val509=)
c.2036T= (p.Val679=)
c.1697T= (p.Val566=)
c.2045T= (p.Val682=)
c.2153T= (p.Val718=)
c.2117T= (p.Val706=)
c.2075T= (p.Val692=)
c.1680-6291T= (n.1680-6291T=)
c.2171T= (p.Val724=)
c.2237T= (p.Val746=)
c.2234T= (p.Val745=)
c.2207T= (p.Val736=)
c.2126T= (p.Val709=)
c.2111T= (p.Val704=)
c.1718T= (p.Val573=)
c.2180T= (p.Val727=)
c.2114T= (p.Val705=)
c.2072T= (p.Val691=)
c.1145T= (p.Val382=)
20g.63407134A>CCA409638912KCNQ2c.2183T>G (p.Val728Gly)
c.2129T>G (p.Val710Gly)
c.1526T>G (p.Val509Gly)
c.2036T>G (p.Val679Gly)
c.1697T>G (p.Val566Gly)
c.2045T>G (p.Val682Gly)
c.2153T>G (p.Val718Gly)
c.2117T>G (p.Val706Gly)
c.2075T>G (p.Val692Gly)
c.1680-6291T>G (n.1680-6291T>G)
c.2171T>G (p.Val724Gly)
c.2237T>G (p.Val746Gly)
c.2234T>G (p.Val745Gly)
c.2207T>G (p.Val736Gly)
c.2126T>G (p.Val709Gly)
c.2111T>G (p.Val704Gly)
c.1718T>G (p.Val573Gly)
c.2180T>G (p.Val727Gly)
c.2114T>G (p.Val705Gly)
c.2072T>G (p.Val691Gly)
c.1145T>G (p.Val382Gly)
 dbSNP gnomAD v4
20g.63407134A>GCA409638915KCNQ2c.2183T>C (p.Val728Ala)
c.2129T>C (p.Val710Ala)
c.1526T>C (p.Val509Ala)
c.2036T>C (p.Val679Ala)
c.1697T>C (p.Val566Ala)
c.2045T>C (p.Val682Ala)
c.2153T>C (p.Val718Ala)
c.2117T>C (p.Val706Ala)
c.2075T>C (p.Val692Ala)
c.1680-6291T>C (n.1680-6291T>C)
c.2171T>C (p.Val724Ala)
c.2237T>C (p.Val746Ala)
c.2234T>C (p.Val745Ala)
c.2207T>C (p.Val736Ala)
c.2126T>C (p.Val709Ala)
c.2111T>C (p.Val704Ala)
c.1718T>C (p.Val573Ala)
c.2180T>C (p.Val727Ala)
c.2114T>C (p.Val705Ala)
c.2072T>C (p.Val691Ala)
c.1145T>C (p.Val382Ala)
20g.63407134A>TCA409638913KCNQ2c.2183T>A (p.Val728Asp)
c.2129T>A (p.Val710Asp)
c.1526T>A (p.Val509Asp)
c.2036T>A (p.Val679Asp)
c.1697T>A (p.Val566Asp)
c.2045T>A (p.Val682Asp)
c.2153T>A (p.Val718Asp)
c.2117T>A (p.Val706Asp)
c.2075T>A (p.Val692Asp)
c.1680-6291T>A (n.1680-6291T>A)
c.2171T>A (p.Val724Asp)
c.2237T>A (p.Val746Asp)
c.2234T>A (p.Val745Asp)
c.2207T>A (p.Val736Asp)
c.2126T>A (p.Val709Asp)
c.2111T>A (p.Val704Asp)
c.1718T>A (p.Val573Asp)
c.2180T>A (p.Val727Asp)
c.2114T>A (p.Val705Asp)
c.2072T>A (p.Val691Asp)
c.1145T>A (p.Val382Asp)
20g.63407135C>ACA409638917KCNQ2c.2182G>T (p.Val728Phe)
c.2128G>T (p.Val710Phe)
c.1525G>T (p.Val509Phe)
c.2035G>T (p.Val679Phe)
c.1696G>T (p.Val566Phe)
c.2044G>T (p.Val682Phe)
c.2152G>T (p.Val718Phe)
c.2116G>T (p.Val706Phe)
c.2074G>T (p.Val692Phe)
c.1680-6292G>T (n.1680-6292G>T)
c.2170G>T (p.Val724Phe)
c.2236G>T (p.Val746Phe)
c.2233G>T (p.Val745Phe)
c.2206G>T (p.Val736Phe)
c.2125G>T (p.Val709Phe)
c.2110G>T (p.Val704Phe)
c.1717G>T (p.Val573Phe)
c.2179G>T (p.Val727Phe)
c.2113G>T (p.Val705Phe)
c.2071G>T (p.Val691Phe)
c.1144G>T (p.Val382Phe)
 gnomAD v4
20g.63407135C>GCA409638920KCNQ2c.2182G>C (p.Val728Leu)
c.2128G>C (p.Val710Leu)
c.1525G>C (p.Val509Leu)
c.2035G>C (p.Val679Leu)
c.1696G>C (p.Val566Leu)
c.2044G>C (p.Val682Leu)
c.2152G>C (p.Val718Leu)
c.2116G>C (p.Val706Leu)
c.2074G>C (p.Val692Leu)
c.1680-6292G>C (n.1680-6292G>C)
c.2170G>C (p.Val724Leu)
c.2236G>C (p.Val746Leu)
c.2233G>C (p.Val745Leu)
c.2206G>C (p.Val736Leu)
c.2125G>C (p.Val709Leu)
c.2110G>C (p.Val704Leu)
c.1717G>C (p.Val573Leu)
c.2179G>C (p.Val727Leu)
c.2113G>C (p.Val705Leu)
c.2071G>C (p.Val691Leu)
c.1144G>C (p.Val382Leu)
 gnomAD v4 COSMIC
20g.63407135C>TCA409638918KCNQ2c.2182G>A (p.Val728Ile)
c.2128G>A (p.Val710Ile)
c.1525G>A (p.Val509Ile)
c.2035G>A (p.Val679Ile)
c.1696G>A (p.Val566Ile)
c.2044G>A (p.Val682Ile)
c.2152G>A (p.Val718Ile)
c.2116G>A (p.Val706Ile)
c.2074G>A (p.Val692Ile)
c.1680-6292G>A (n.1680-6292G>A)
c.2170G>A (p.Val724Ile)
c.2236G>A (p.Val746Ile)
c.2233G>A (p.Val745Ile)
c.2206G>A (p.Val736Ile)
c.2125G>A (p.Val709Ile)
c.2110G>A (p.Val704Ile)
c.1717G>A (p.Val573Ile)
c.2179G>A (p.Val727Ile)
c.2113G>A (p.Val705Ile)
c.2071G>A (p.Val691Ile)
c.1144G>A (p.Val382Ile)
 gnomAD v4
20g.63407135_63407136delinsCACA2374774433KCNQ2c.2181_2182delinsTG (p.Pro727=)
c.2127_2128delinsTG (p.Pro709=)
c.1524_1525delinsTG (p.Pro508=)
c.2034_2035delinsTG (p.Pro678=)
c.1695_1696delinsTG (p.Pro565=)
c.2043_2044delinsTG (p.Pro681=)
c.2151_2152delinsTG (p.Pro717=)
c.2115_2116delinsTG (p.Pro705=)
c.2073_2074delinsTG (p.Pro691=)
c.1680-6293_1680-6292delinsTG (n.1680-6293_1680-6292delinsTG)
c.2169_2170delinsTG (p.Pro723=)
c.2235_2236delinsTG (p.Pro745=)
c.2232_2233delinsTG (p.Pro744=)
c.2205_2206delinsTG (p.Pro735=)
c.2124_2125delinsTG (p.Pro708=)
c.2109_2110delinsTG (p.Pro703=)
c.1716_1717delinsTG (p.Pro572=)
c.2178_2179delinsTG (p.Pro726=)
c.2112_2113delinsTG (p.Pro704=)
c.2070_2071delinsTG (p.Pro690=)
c.1143_1144delinsTG (p.Pro381=)
20g.63407135_63407137delinsCAGCA2374774434KCNQ2c.2180_2182delinsCTG (p.Pro727=)
c.2126_2128delinsCTG (p.Pro709=)
c.1523_1525delinsCTG (p.Pro508=)
c.2033_2035delinsCTG (p.Pro678=)
c.1694_1696delinsCTG (p.Pro565=)
c.2042_2044delinsCTG (p.Pro681=)
c.2150_2152delinsCTG (p.Pro717=)
c.2114_2116delinsCTG (p.Pro705=)
c.2072_2074delinsCTG (p.Pro691=)
c.1680-6294_1680-6292delinsCTG (n.1680-6294_1680-6292delinsCTG)
c.2168_2170delinsCTG (p.Pro723=)
c.2234_2236delinsCTG (p.Pro745=)
c.2231_2233delinsCTG (p.Pro744=)
c.2204_2206delinsCTG (p.Pro735=)
c.2123_2125delinsCTG (p.Pro708=)
c.2108_2110delinsCTG (p.Pro703=)
c.1715_1717delinsCTG (p.Pro572=)
c.2177_2179delinsCTG (p.Pro726=)
c.2111_2113delinsCTG (p.Pro704=)
c.2069_2071delinsCTG (p.Pro690=)
c.1142_1144delinsCTG (p.Pro381=)
20g.63407136delCA315556KCNQ2c.2181del (p.Val728SerfsTer?)
c.2127del (p.Val710SerfsTer?)
c.1524del (p.Val509SerfsTer?)
c.2034del (p.Val679SerfsTer?)
c.1695del (p.Val566SerfsTer?)
c.2043del (p.Val682SerfsTer?)
c.2151del (p.Val718SerfsTer?)
c.2115del (p.Val706SerfsTer?)
c.2073del (p.Val692SerfsTer?)
c.1680-6293del (n.1680-6293del)
c.2169del (p.Val724SerfsTer?)
c.2235del (p.Val746SerfsTer?)
c.2232del (p.Val745SerfsTer?)
c.2205del (p.Val736SerfsTer?)
c.2124del (p.Val709SerfsTer?)
c.2109del (p.Val704SerfsTer?)
c.1716del (p.Val573SerfsTer?)
c.2178del (p.Val727SerfsTer?)
c.2112del (p.Val705SerfsTer?)
c.2070del (p.Val691SerfsTer?)
c.1143del (p.Val382SerfsTer?)
 ClinVar dbSNP
20g.63407136A=CA2374774435KCNQ2c.2181T= (p.Pro727=)
c.2127T= (p.Pro709=)
c.1524T= (p.Pro508=)
c.2034T= (p.Pro678=)
c.1695T= (p.Pro565=)
c.2043T= (p.Pro681=)
c.2151T= (p.Pro717=)
c.2115T= (p.Pro705=)
c.2073T= (p.Pro691=)
c.1680-6293T= (n.1680-6293T=)
c.2169T= (p.Pro723=)
c.2235T= (p.Pro745=)
c.2232T= (p.Pro744=)
c.2205T= (p.Pro735=)
c.2124T= (p.Pro708=)
c.2109T= (p.Pro703=)
c.1716T= (p.Pro572=)
c.2178T= (p.Pro726=)
c.2112T= (p.Pro704=)
c.2070T= (p.Pro690=)
c.1143T= (p.Pro381=)
20g.63407136A>CCA511339533KCNQ2c.2181T>G (p.Pro727=)
c.2127T>G (p.Pro709=)
c.1524T>G (p.Pro508=)
c.2034T>G (p.Pro678=)
c.1695T>G (p.Pro565=)
c.2043T>G (p.Pro681=)
c.2151T>G (p.Pro717=)
c.2115T>G (p.Pro705=)
c.2073T>G (p.Pro691=)
c.1680-6293T>G (n.1680-6293T>G)
c.2169T>G (p.Pro723=)
c.2235T>G (p.Pro745=)
c.2232T>G (p.Pro744=)
c.2205T>G (p.Pro735=)
c.2124T>G (p.Pro708=)
c.2109T>G (p.Pro703=)
c.1716T>G (p.Pro572=)
c.2178T>G (p.Pro726=)
c.2112T>G (p.Pro704=)
c.2070T>G (p.Pro690=)
c.1143T>G (p.Pro381=)
 dbSNP gnomAD v3 gnomAD v4
20g.63407136A>GCA9958141KCNQ2c.2181T>C (p.Pro727=)
c.2127T>C (p.Pro709=)
c.1524T>C (p.Pro508=)
c.2034T>C (p.Pro678=)
c.1695T>C (p.Pro565=)
c.2043T>C (p.Pro681=)
c.2151T>C (p.Pro717=)
c.2115T>C (p.Pro705=)
c.2073T>C (p.Pro691=)
c.1680-6293T>C (n.1680-6293T>C)
c.2169T>C (p.Pro723=)
c.2235T>C (p.Pro745=)
c.2232T>C (p.Pro744=)
c.2205T>C (p.Pro735=)
c.2124T>C (p.Pro708=)
c.2109T>C (p.Pro703=)
c.1716T>C (p.Pro572=)
c.2178T>C (p.Pro726=)
c.2112T>C (p.Pro704=)
c.2070T>C (p.Pro690=)
c.1143T>C (p.Pro381=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407136A>TCA511339534KCNQ2c.2181T>A (p.Pro727=)
c.2127T>A (p.Pro709=)
c.1524T>A (p.Pro508=)
c.2034T>A (p.Pro678=)
c.1695T>A (p.Pro565=)
c.2043T>A (p.Pro681=)
c.2151T>A (p.Pro717=)
c.2115T>A (p.Pro705=)
c.2073T>A (p.Pro691=)
c.1680-6293T>A (n.1680-6293T>A)
c.2169T>A (p.Pro723=)
c.2235T>A (p.Pro745=)
c.2232T>A (p.Pro744=)
c.2205T>A (p.Pro735=)
c.2124T>A (p.Pro708=)
c.2109T>A (p.Pro703=)
c.1716T>A (p.Pro572=)
c.2178T>A (p.Pro726=)
c.2112T>A (p.Pro704=)
c.2070T>A (p.Pro690=)
c.1143T>A (p.Pro381=)
20g.63407136_63407137delCA204876KCNQ2c.2180_2181del (p.Pro727ArgfsTer?)
c.2126_2127del (p.Pro709ArgfsTer?)
c.1523_1524del (p.Pro508ArgfsTer?)
c.2033_2034del (p.Pro678ArgfsTer?)
c.1694_1695del (p.Pro565ArgfsTer?)
c.2042_2043del (p.Pro681ArgfsTer?)
c.2150_2151del (p.Pro717ArgfsTer?)
c.2114_2115del (p.Pro705ArgfsTer?)
c.2072_2073del (p.Pro691ArgfsTer?)
c.1680-6294_1680-6293del (n.1680-6294_1680-6293del)
c.2168_2169del (p.Pro723ArgfsTer?)
c.2234_2235del (p.Pro745ArgfsTer?)
c.2231_2232del (p.Pro744ArgfsTer?)
c.2204_2205del (p.Pro735ArgfsTer?)
c.2123_2124del (p.Pro708ArgfsTer?)
c.2108_2109del (p.Pro703ArgfsTer?)
c.1715_1716del (p.Pro572ArgfsTer?)
c.2177_2178del (p.Pro726ArgfsTer?)
c.2111_2112del (p.Pro704ArgfsTer?)
c.2069_2070del (p.Pro690ArgfsTer?)
c.1142_1143del (p.Pro381ArgfsTer?)
 ClinVar dbSNP
20g.63407136_63407148delinsAGGGGGCGCGGCCCA2374774436KCNQ2c.2169_2181delinsGGCCGCGCCCCCT (p.Pro723=)
c.2115_2127delinsGGCCGCGCCCCCT (p.Pro705=)
c.1512_1524delinsGGCCGCGCCCCCT (p.Pro504=)
c.2022_2034delinsGGCCGCGCCCCCT (p.Pro674=)
c.1683_1695delinsGGCCGCGCCCCCT (p.Pro561=)
c.2031_2043delinsGGCCGCGCCCCCT (p.Pro677=)
c.2139_2151delinsGGCCGCGCCCCCT (p.Pro713=)
c.2103_2115delinsGGCCGCGCCCCCT (p.Pro701=)
c.2061_2073delinsGGCCGCGCCCCCT (p.Pro687=)
c.1679+6302_1680-6293delinsGGCCGCGCCCCCT (n.1679+6302_1680-6293delinsGGCCGCGCCCCCT)
c.2157_2169delinsGGCCGCGCCCCCT (p.Pro719=)
c.2223_2235delinsGGCCGCGCCCCCT (p.Pro741=)
c.2220_2232delinsGGCCGCGCCCCCT (p.Pro740=)
c.2193_2205delinsGGCCGCGCCCCCT (p.Pro731=)
c.2112_2124delinsGGCCGCGCCCCCT (p.Pro704=)
c.2097_2109delinsGGCCGCGCCCCCT (p.Pro699=)
c.1704_1716delinsGGCCGCGCCCCCT (p.Pro568=)
c.2166_2178delinsGGCCGCGCCCCCT (p.Pro722=)
c.2100_2112delinsGGCCGCGCCCCCT (p.Pro700=)
c.2058_2070delinsGGCCGCGCCCCCT (p.Pro686=)
c.1131_1143delinsGGCCGCGCCCCCT (p.Pro377=)
20g.63407137G>ACA409638925KCNQ2c.2180C>T (p.Pro727Leu)
c.2126C>T (p.Pro709Leu)
c.1523C>T (p.Pro508Leu)
c.2033C>T (p.Pro678Leu)
c.1694C>T (p.Pro565Leu)
c.2042C>T (p.Pro681Leu)
c.2150C>T (p.Pro717Leu)
c.2114C>T (p.Pro705Leu)
c.2072C>T (p.Pro691Leu)
c.1680-6294C>T (n.1680-6294C>T)
c.2168C>T (p.Pro723Leu)
c.2234C>T (p.Pro745Leu)
c.2231C>T (p.Pro744Leu)
c.2204C>T (p.Pro735Leu)
c.2123C>T (p.Pro708Leu)
c.2108C>T (p.Pro703Leu)
c.1715C>T (p.Pro572Leu)
c.2177C>T (p.Pro726Leu)
c.2111C>T (p.Pro704Leu)
c.2069C>T (p.Pro690Leu)
c.1142C>T (p.Pro381Leu)
 ClinVar dbSNP gnomAD v4
20g.63407137G>CCA409638927KCNQ2c.2180C>G (p.Pro727Arg)
c.2126C>G (p.Pro709Arg)
c.1523C>G (p.Pro508Arg)
c.2033C>G (p.Pro678Arg)
c.1694C>G (p.Pro565Arg)
c.2042C>G (p.Pro681Arg)
c.2150C>G (p.Pro717Arg)
c.2114C>G (p.Pro705Arg)
c.2072C>G (p.Pro691Arg)
c.1680-6294C>G (n.1680-6294C>G)
c.2168C>G (p.Pro723Arg)
c.2234C>G (p.Pro745Arg)
c.2231C>G (p.Pro744Arg)
c.2204C>G (p.Pro735Arg)
c.2123C>G (p.Pro708Arg)
c.2108C>G (p.Pro703Arg)
c.1715C>G (p.Pro572Arg)
c.2177C>G (p.Pro726Arg)
c.2111C>G (p.Pro704Arg)
c.2069C>G (p.Pro690Arg)
c.1142C>G (p.Pro381Arg)
20g.63407137G=CA2374774437KCNQ2c.2180C= (p.Pro727=)
c.2126C= (p.Pro709=)
c.1523C= (p.Pro508=)
c.2033C= (p.Pro678=)
c.1694C= (p.Pro565=)
c.2042C= (p.Pro681=)
c.2150C= (p.Pro717=)
c.2114C= (p.Pro705=)
c.2072C= (p.Pro691=)
c.1680-6294C= (n.1680-6294C=)
c.2168C= (p.Pro723=)
c.2234C= (p.Pro745=)
c.2231C= (p.Pro744=)
c.2204C= (p.Pro735=)
c.2123C= (p.Pro708=)
c.2108C= (p.Pro703=)
c.1715C= (p.Pro572=)
c.2177C= (p.Pro726=)
c.2111C= (p.Pro704=)
c.2069C= (p.Pro690=)
c.1142C= (p.Pro381=)
20g.63407137G>TCA409638929KCNQ2c.2180C>A (p.Pro727His)
c.2126C>A (p.Pro709His)
c.1523C>A (p.Pro508His)
c.2033C>A (p.Pro678His)
c.1694C>A (p.Pro565His)
c.2042C>A (p.Pro681His)
c.2150C>A (p.Pro717His)
c.2114C>A (p.Pro705His)
c.2072C>A (p.Pro691His)
c.1680-6294C>A (n.1680-6294C>A)
c.2168C>A (p.Pro723His)
c.2234C>A (p.Pro745His)
c.2231C>A (p.Pro744His)
c.2204C>A (p.Pro735His)
c.2123C>A (p.Pro708His)
c.2108C>A (p.Pro703His)
c.1715C>A (p.Pro572His)
c.2177C>A (p.Pro726His)
c.2111C>A (p.Pro704His)
c.2069C>A (p.Pro690His)
c.1142C>A (p.Pro381His)
 gnomAD v4
20g.63407141dupCA16620962KCNQ2c.2180dup (p.Val728CysfsTer?)
c.2126dup (p.Val710CysfsTer?)
c.1523dup (p.Val509CysfsTer?)
c.2033dup (p.Val679CysfsTer?)
c.1694dup (p.Val566CysfsTer?)
c.2042dup (p.Val682CysfsTer?)
c.2150dup (p.Val718CysfsTer?)
c.2114dup (p.Val706CysfsTer?)
c.2072dup (p.Val692CysfsTer?)
c.1680-6294dup (n.1680-6294dup)
c.2168dup (p.Val724CysfsTer?)
c.2234dup (p.Val746CysfsTer?)
c.2231dup (p.Val745CysfsTer?)
c.2204dup (p.Val736CysfsTer?)
c.2123dup (p.Val709CysfsTer?)
c.2108dup (p.Val704CysfsTer?)
c.1715dup (p.Val573CysfsTer?)
c.2177dup (p.Val727CysfsTer?)
c.2111dup (p.Val705CysfsTer?)
c.2069dup (p.Val691CysfsTer?)
c.1142dup (p.Val382CysfsTer?)
 ClinVar dbSNP gnomAD v4
20g.63407141delCA2653805632KCNQ2c.2180del (p.Pro727LeufsTer?)
c.2126del (p.Pro709LeufsTer?)
c.1523del (p.Pro508LeufsTer?)
c.2033del (p.Pro678LeufsTer?)
c.1694del (p.Pro565LeufsTer?)
c.2042del (p.Pro681LeufsTer?)
c.2150del (p.Pro717LeufsTer?)
c.2114del (p.Pro705LeufsTer?)
c.2072del (p.Pro691LeufsTer?)
c.1680-6294del (n.1680-6294del)
c.2168del (p.Pro723LeufsTer?)
c.2234del (p.Pro745LeufsTer?)
c.2231del (p.Pro744LeufsTer?)
c.2204del (p.Pro735LeufsTer?)
c.2123del (p.Pro708LeufsTer?)
c.2108del (p.Pro703LeufsTer?)
c.1715del (p.Pro572LeufsTer?)
c.2177del (p.Pro726LeufsTer?)
c.2111del (p.Pro704LeufsTer?)
c.2069del (p.Pro690LeufsTer?)
c.1142del (p.Pro381LeufsTer?)
 gnomAD v4
20g.63407145_63407156delCA2374774438KCNQ2c.2169_2180del (p.Ala724_Pro727del)
c.2115_2126del (p.Ala706_Pro709del)
c.1512_1523del (p.Ala505_Pro508del)
c.2022_2033del (p.Ala675_Pro678del)
c.1683_1694del (p.Ala562_Pro565del)
c.2031_2042del (p.Ala678_Pro681del)
c.2139_2150del (p.Ala714_Pro717del)
c.2103_2114del (p.Ala702_Pro705del)
c.2061_2072del (p.Ala688_Pro691del)
c.1679+6302_1680-6294del (n.1679+6302_1680-6294del)
c.2157_2168del (p.Ala720_Pro723del)
c.2223_2234del (p.Ala742_Pro745del)
c.2220_2231del (p.Ala741_Pro744del)
c.2193_2204del (p.Ala732_Pro735del)
c.2112_2123del (p.Ala705_Pro708del)
c.2097_2108del (p.Ala700_Pro703del)
c.1704_1715del (p.Ala569_Pro572del)
c.2166_2177del (p.Ala723_Pro726del)
c.2100_2111del (p.Ala701_Pro704del)
c.2058_2069del (p.Ala687_Pro690del)
c.1131_1142del (p.Ala378_Pro381del)
 dbSNP
20g.63407138G>ACA409638931KCNQ2c.2179C>T (p.Pro727Ser)
c.2125C>T (p.Pro709Ser)
c.1522C>T (p.Pro508Ser)
c.2032C>T (p.Pro678Ser)
c.1693C>T (p.Pro565Ser)
c.2041C>T (p.Pro681Ser)
c.2149C>T (p.Pro717Ser)
c.2113C>T (p.Pro705Ser)
c.2071C>T (p.Pro691Ser)
c.1680-6295C>T (n.1680-6295C>T)
c.2167C>T (p.Pro723Ser)
c.2233C>T (p.Pro745Ser)
c.2230C>T (p.Pro744Ser)
c.2203C>T (p.Pro735Ser)
c.2122C>T (p.Pro708Ser)
c.2107C>T (p.Pro703Ser)
c.1714C>T (p.Pro572Ser)
c.2176C>T (p.Pro726Ser)
c.2110C>T (p.Pro704Ser)
c.2068C>T (p.Pro690Ser)
c.1141C>T (p.Pro381Ser)
 gnomAD v4
20g.63407138G>CCA409638933KCNQ2c.2179C>G (p.Pro727Ala)
c.2125C>G (p.Pro709Ala)
c.1522C>G (p.Pro508Ala)
c.2032C>G (p.Pro678Ala)
c.1693C>G (p.Pro565Ala)
c.2041C>G (p.Pro681Ala)
c.2149C>G (p.Pro717Ala)
c.2113C>G (p.Pro705Ala)
c.2071C>G (p.Pro691Ala)
c.1680-6295C>G (n.1680-6295C>G)
c.2167C>G (p.Pro723Ala)
c.2233C>G (p.Pro745Ala)
c.2230C>G (p.Pro744Ala)
c.2203C>G (p.Pro735Ala)
c.2122C>G (p.Pro708Ala)
c.2107C>G (p.Pro703Ala)
c.1714C>G (p.Pro572Ala)
c.2176C>G (p.Pro726Ala)
c.2110C>G (p.Pro704Ala)
c.2068C>G (p.Pro690Ala)
c.1141C>G (p.Pro381Ala)
20g.63407138G>TCA409638936KCNQ2c.2179C>A (p.Pro727Thr)
c.2125C>A (p.Pro709Thr)
c.1522C>A (p.Pro508Thr)
c.2032C>A (p.Pro678Thr)
c.1693C>A (p.Pro565Thr)
c.2041C>A (p.Pro681Thr)
c.2149C>A (p.Pro717Thr)
c.2113C>A (p.Pro705Thr)
c.2071C>A (p.Pro691Thr)
c.1680-6295C>A (n.1680-6295C>A)
c.2167C>A (p.Pro723Thr)
c.2233C>A (p.Pro745Thr)
c.2230C>A (p.Pro744Thr)
c.2203C>A (p.Pro735Thr)
c.2122C>A (p.Pro708Thr)
c.2107C>A (p.Pro703Thr)
c.1714C>A (p.Pro572Thr)
c.2176C>A (p.Pro726Thr)
c.2110C>A (p.Pro704Thr)
c.2068C>A (p.Pro690Thr)
c.1141C>A (p.Pro381Thr)
 gnomAD v4
20g.63407139G>ACA511339273KCNQ2c.2178C>T (p.Pro726=)
c.2124C>T (p.Pro708=)
c.1521C>T (p.Pro507=)
c.2031C>T (p.Pro677=)
c.1692C>T (p.Pro564=)
c.2040C>T (p.Pro680=)
c.2148C>T (p.Pro716=)
c.2112C>T (p.Pro704=)
c.2070C>T (p.Pro690=)
c.1680-6296C>T (n.1680-6296C>T)
c.2166C>T (p.Pro722=)
c.2232C>T (p.Pro744=)
c.2229C>T (p.Pro743=)
c.2202C>T (p.Pro734=)
c.2121C>T (p.Pro707=)
c.2106C>T (p.Pro702=)
c.1713C>T (p.Pro571=)
c.2175C>T (p.Pro725=)
c.2109C>T (p.Pro703=)
c.2067C>T (p.Pro689=)
c.1140C>T (p.Pro380=)
 dbSNP gnomAD v4
20g.63407139G>CCA511339275KCNQ2c.2178C>G (p.Pro726=)
c.2124C>G (p.Pro708=)
c.1521C>G (p.Pro507=)
c.2031C>G (p.Pro677=)
c.1692C>G (p.Pro564=)
c.2040C>G (p.Pro680=)
c.2148C>G (p.Pro716=)
c.2112C>G (p.Pro704=)
c.2070C>G (p.Pro690=)
c.1680-6296C>G (n.1680-6296C>G)
c.2166C>G (p.Pro722=)
c.2232C>G (p.Pro744=)
c.2229C>G (p.Pro743=)
c.2202C>G (p.Pro734=)
c.2121C>G (p.Pro707=)
c.2106C>G (p.Pro702=)
c.1713C>G (p.Pro571=)
c.2175C>G (p.Pro725=)
c.2109C>G (p.Pro703=)
c.2067C>G (p.Pro689=)
c.1140C>G (p.Pro380=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407139G=CA2374774439KCNQ2c.2178C= (p.Pro726=)
c.2124C= (p.Pro708=)
c.1521C= (p.Pro507=)
c.2031C= (p.Pro677=)
c.1692C= (p.Pro564=)
c.2040C= (p.Pro680=)
c.2148C= (p.Pro716=)
c.2112C= (p.Pro704=)
c.2070C= (p.Pro690=)
c.1680-6296C= (n.1680-6296C=)
c.2166C= (p.Pro722=)
c.2232C= (p.Pro744=)
c.2229C= (p.Pro743=)
c.2202C= (p.Pro734=)
c.2121C= (p.Pro707=)
c.2106C= (p.Pro702=)
c.1713C= (p.Pro571=)
c.2175C= (p.Pro725=)
c.2109C= (p.Pro703=)
c.2067C= (p.Pro689=)
c.1140C= (p.Pro380=)
20g.63407139G>TCA511339276KCNQ2c.2178C>A (p.Pro726=)
c.2124C>A (p.Pro708=)
c.1521C>A (p.Pro507=)
c.2031C>A (p.Pro677=)
c.1692C>A (p.Pro564=)
c.2040C>A (p.Pro680=)
c.2148C>A (p.Pro716=)
c.2112C>A (p.Pro704=)
c.2070C>A (p.Pro690=)
c.1680-6296C>A (n.1680-6296C>A)
c.2166C>A (p.Pro722=)
c.2232C>A (p.Pro744=)
c.2229C>A (p.Pro743=)
c.2202C>A (p.Pro734=)
c.2121C>A (p.Pro707=)
c.2106C>A (p.Pro702=)
c.1713C>A (p.Pro571=)
c.2175C>A (p.Pro725=)
c.2109C>A (p.Pro703=)
c.2067C>A (p.Pro689=)
c.1140C>A (p.Pro380=)
 gnomAD v4
20g.63407140G>ACA409638938KCNQ2c.2177C>T (p.Pro726Leu)
c.2123C>T (p.Pro708Leu)
c.1520C>T (p.Pro507Leu)
c.2030C>T (p.Pro677Leu)
c.1691C>T (p.Pro564Leu)
c.2039C>T (p.Pro680Leu)
c.2147C>T (p.Pro716Leu)
c.2111C>T (p.Pro704Leu)
c.2069C>T (p.Pro690Leu)
c.1680-6297C>T (n.1680-6297C>T)
c.2165C>T (p.Pro722Leu)
c.2231C>T (p.Pro744Leu)
c.2228C>T (p.Pro743Leu)
c.2201C>T (p.Pro734Leu)
c.2120C>T (p.Pro707Leu)
c.2105C>T (p.Pro702Leu)
c.1712C>T (p.Pro571Leu)
c.2174C>T (p.Pro725Leu)
c.2108C>T (p.Pro703Leu)
c.2066C>T (p.Pro689Leu)
c.1139C>T (p.Pro380Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63407140G>CCA409638943KCNQ2c.2177C>G (p.Pro726Arg)
c.2123C>G (p.Pro708Arg)
c.1520C>G (p.Pro507Arg)
c.2030C>G (p.Pro677Arg)
c.1691C>G (p.Pro564Arg)
c.2039C>G (p.Pro680Arg)
c.2147C>G (p.Pro716Arg)
c.2111C>G (p.Pro704Arg)
c.2069C>G (p.Pro690Arg)
c.1680-6297C>G (n.1680-6297C>G)
c.2165C>G (p.Pro722Arg)
c.2231C>G (p.Pro744Arg)
c.2228C>G (p.Pro743Arg)
c.2201C>G (p.Pro734Arg)
c.2120C>G (p.Pro707Arg)
c.2105C>G (p.Pro702Arg)
c.1712C>G (p.Pro571Arg)
c.2174C>G (p.Pro725Arg)
c.2108C>G (p.Pro703Arg)
c.2066C>G (p.Pro689Arg)
c.1139C>G (p.Pro380Arg)
20g.63407140G=CA2374774440KCNQ2c.2177C= (p.Pro726=)
c.2123C= (p.Pro708=)
c.1520C= (p.Pro507=)
c.2030C= (p.Pro677=)
c.1691C= (p.Pro564=)
c.2039C= (p.Pro680=)
c.2147C= (p.Pro716=)
c.2111C= (p.Pro704=)
c.2069C= (p.Pro690=)
c.1680-6297C= (n.1680-6297C=)
c.2165C= (p.Pro722=)
c.2231C= (p.Pro744=)
c.2228C= (p.Pro743=)
c.2201C= (p.Pro734=)
c.2120C= (p.Pro707=)
c.2105C= (p.Pro702=)
c.1712C= (p.Pro571=)
c.2174C= (p.Pro725=)
c.2108C= (p.Pro703=)
c.2066C= (p.Pro689=)
c.1139C= (p.Pro380=)
20g.63407140G>TCA409638945KCNQ2c.2177C>A (p.Pro726His)
c.2123C>A (p.Pro708His)
c.1520C>A (p.Pro507His)
c.2030C>A (p.Pro677His)
c.1691C>A (p.Pro564His)
c.2039C>A (p.Pro680His)
c.2147C>A (p.Pro716His)
c.2111C>A (p.Pro704His)
c.2069C>A (p.Pro690His)
c.1680-6297C>A (n.1680-6297C>A)
c.2165C>A (p.Pro722His)
c.2231C>A (p.Pro744His)
c.2228C>A (p.Pro743His)
c.2201C>A (p.Pro734His)
c.2120C>A (p.Pro707His)
c.2105C>A (p.Pro702His)
c.1712C>A (p.Pro571His)
c.2174C>A (p.Pro725His)
c.2108C>A (p.Pro703His)
c.2066C>A (p.Pro689His)
c.1139C>A (p.Pro380His)
 ClinVar dbSNP gnomAD v4
20g.63407141G>ACA409638947KCNQ2c.2176C>T (p.Pro726Ser)
c.2122C>T (p.Pro708Ser)
c.1519C>T (p.Pro507Ser)
c.2029C>T (p.Pro677Ser)
c.1690C>T (p.Pro564Ser)
c.2038C>T (p.Pro680Ser)
c.2146C>T (p.Pro716Ser)
c.2110C>T (p.Pro704Ser)
c.2068C>T (p.Pro690Ser)
c.1680-6298C>T (n.1680-6298C>T)
c.2164C>T (p.Pro722Ser)
c.2230C>T (p.Pro744Ser)
c.2227C>T (p.Pro743Ser)
c.2200C>T (p.Pro734Ser)
c.2119C>T (p.Pro707Ser)
c.2104C>T (p.Pro702Ser)
c.1711C>T (p.Pro571Ser)
c.2173C>T (p.Pro725Ser)
c.2107C>T (p.Pro703Ser)
c.2065C>T (p.Pro689Ser)
c.1138C>T (p.Pro380Ser)
 gnomAD v4
20g.63407141G>CCA9958142KCNQ2c.2176C>G (p.Pro726Ala)
c.2122C>G (p.Pro708Ala)
c.1519C>G (p.Pro507Ala)
c.2029C>G (p.Pro677Ala)
c.1690C>G (p.Pro564Ala)
c.2038C>G (p.Pro680Ala)
c.2146C>G (p.Pro716Ala)
c.2110C>G (p.Pro704Ala)
c.2068C>G (p.Pro690Ala)
c.1680-6298C>G (n.1680-6298C>G)
c.2164C>G (p.Pro722Ala)
c.2230C>G (p.Pro744Ala)
c.2227C>G (p.Pro743Ala)
c.2200C>G (p.Pro734Ala)
c.2119C>G (p.Pro707Ala)
c.2104C>G (p.Pro702Ala)
c.1711C>G (p.Pro571Ala)
c.2173C>G (p.Pro725Ala)
c.2107C>G (p.Pro703Ala)
c.2065C>G (p.Pro689Ala)
c.1138C>G (p.Pro380Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407141G=CA2374774441KCNQ2c.2176C= (p.Pro726=)
c.2122C= (p.Pro708=)
c.1519C= (p.Pro507=)
c.2029C= (p.Pro677=)
c.1690C= (p.Pro564=)
c.2038C= (p.Pro680=)
c.2146C= (p.Pro716=)
c.2110C= (p.Pro704=)
c.2068C= (p.Pro690=)
c.1680-6298C= (n.1680-6298C=)
c.2164C= (p.Pro722=)
c.2230C= (p.Pro744=)
c.2227C= (p.Pro743=)
c.2200C= (p.Pro734=)
c.2119C= (p.Pro707=)
c.2104C= (p.Pro702=)
c.1711C= (p.Pro571=)
c.2173C= (p.Pro725=)
c.2107C= (p.Pro703=)
c.2065C= (p.Pro689=)
c.1138C= (p.Pro380=)
20g.63407141G>TCA409638949KCNQ2c.2176C>A (p.Pro726Thr)
c.2122C>A (p.Pro708Thr)
c.1519C>A (p.Pro507Thr)
c.2029C>A (p.Pro677Thr)
c.1690C>A (p.Pro564Thr)
c.2038C>A (p.Pro680Thr)
c.2146C>A (p.Pro716Thr)
c.2110C>A (p.Pro704Thr)
c.2068C>A (p.Pro690Thr)
c.1680-6298C>A (n.1680-6298C>A)
c.2164C>A (p.Pro722Thr)
c.2230C>A (p.Pro744Thr)
c.2227C>A (p.Pro743Thr)
c.2200C>A (p.Pro734Thr)
c.2119C>A (p.Pro707Thr)
c.2104C>A (p.Pro702Thr)
c.1711C>A (p.Pro571Thr)
c.2173C>A (p.Pro725Thr)
c.2107C>A (p.Pro703Thr)
c.2065C>A (p.Pro689Thr)
c.1138C>A (p.Pro380Thr)
 gnomAD v4
20g.63407142C>ACA511339282KCNQ2c.2175G>T (p.Ala725=)
c.2121G>T (p.Ala707=)
c.1518G>T (p.Ala506=)
c.2028G>T (p.Ala676=)
c.1689G>T (p.Ala563=)
c.2037G>T (p.Ala679=)
c.2145G>T (p.Ala715=)
c.2109G>T (p.Ala703=)
c.2067G>T (p.Ala689=)
c.1680-6299G>T (n.1680-6299G>T)
c.2163G>T (p.Ala721=)
c.2229G>T (p.Ala743=)
c.2226G>T (p.Ala742=)
c.2199G>T (p.Ala733=)
c.2118G>T (p.Ala706=)
c.2103G>T (p.Ala701=)
c.1710G>T (p.Ala570=)
c.2172G>T (p.Ala724=)
c.2106G>T (p.Ala702=)
c.2064G>T (p.Ala688=)
c.1137G>T (p.Ala379=)
 gnomAD v4
20g.63407142C=CA2374774442KCNQ2c.2175G= (p.Ala725=)
c.2121G= (p.Ala707=)
c.1518G= (p.Ala506=)
c.2028G= (p.Ala676=)
c.1689G= (p.Ala563=)
c.2037G= (p.Ala679=)
c.2145G= (p.Ala715=)
c.2109G= (p.Ala703=)
c.2067G= (p.Ala689=)
c.1680-6299G= (n.1680-6299G=)
c.2163G= (p.Ala721=)
c.2229G= (p.Ala743=)
c.2226G= (p.Ala742=)
c.2199G= (p.Ala733=)
c.2118G= (p.Ala706=)
c.2103G= (p.Ala701=)
c.1710G= (p.Ala570=)
c.2172G= (p.Ala724=)
c.2106G= (p.Ala702=)
c.2064G= (p.Ala688=)
c.1137G= (p.Ala379=)
20g.63407142C>GCA511339283KCNQ2c.2175G>C (p.Ala725=)
c.2121G>C (p.Ala707=)
c.1518G>C (p.Ala506=)
c.2028G>C (p.Ala676=)
c.1689G>C (p.Ala563=)
c.2037G>C (p.Ala679=)
c.2145G>C (p.Ala715=)
c.2109G>C (p.Ala703=)
c.2067G>C (p.Ala689=)
c.1680-6299G>C (n.1680-6299G>C)
c.2163G>C (p.Ala721=)
c.2229G>C (p.Ala743=)
c.2226G>C (p.Ala742=)
c.2199G>C (p.Ala733=)
c.2118G>C (p.Ala706=)
c.2103G>C (p.Ala701=)
c.1710G>C (p.Ala570=)
c.2172G>C (p.Ala724=)
c.2106G>C (p.Ala702=)
c.2064G>C (p.Ala688=)
c.1137G>C (p.Ala379=)
 gnomAD v4
20g.63407142C>TCA511339284KCNQ2c.2175G>A (p.Ala725=)
c.2121G>A (p.Ala707=)
c.1518G>A (p.Ala506=)
c.2028G>A (p.Ala676=)
c.1689G>A (p.Ala563=)
c.2037G>A (p.Ala679=)
c.2145G>A (p.Ala715=)
c.2109G>A (p.Ala703=)
c.2067G>A (p.Ala689=)
c.1680-6299G>A (n.1680-6299G>A)
c.2163G>A (p.Ala721=)
c.2229G>A (p.Ala743=)
c.2226G>A (p.Ala742=)
c.2199G>A (p.Ala733=)
c.2118G>A (p.Ala706=)
c.2103G>A (p.Ala701=)
c.1710G>A (p.Ala570=)
c.2172G>A (p.Ala724=)
c.2106G>A (p.Ala702=)
c.2064G>A (p.Ala688=)
c.1137G>A (p.Ala379=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407143G>ACA409638952KCNQ2c.2174C>T (p.Ala725Val)
c.2120C>T (p.Ala707Val)
c.1517C>T (p.Ala506Val)
c.2027C>T (p.Ala676Val)
c.1688C>T (p.Ala563Val)
c.2036C>T (p.Ala679Val)
c.2144C>T (p.Ala715Val)
c.2108C>T (p.Ala703Val)
c.2066C>T (p.Ala689Val)
c.1680-6300C>T (n.1680-6300C>T)
c.2162C>T (p.Ala721Val)
c.2228C>T (p.Ala743Val)
c.2225C>T (p.Ala742Val)
c.2198C>T (p.Ala733Val)
c.2117C>T (p.Ala706Val)
c.2102C>T (p.Ala701Val)
c.1709C>T (p.Ala570Val)
c.2171C>T (p.Ala724Val)
c.2105C>T (p.Ala702Val)
c.2063C>T (p.Ala688Val)
c.1136C>T (p.Ala379Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407143G>CCA9958143KCNQ2c.2174C>G (p.Ala725Gly)
c.2120C>G (p.Ala707Gly)
c.1517C>G (p.Ala506Gly)
c.2027C>G (p.Ala676Gly)
c.1688C>G (p.Ala563Gly)
c.2036C>G (p.Ala679Gly)
c.2144C>G (p.Ala715Gly)
c.2108C>G (p.Ala703Gly)
c.2066C>G (p.Ala689Gly)
c.1680-6300C>G (n.1680-6300C>G)
c.2162C>G (p.Ala721Gly)
c.2228C>G (p.Ala743Gly)
c.2225C>G (p.Ala742Gly)
c.2198C>G (p.Ala733Gly)
c.2117C>G (p.Ala706Gly)
c.2102C>G (p.Ala701Gly)
c.1709C>G (p.Ala570Gly)
c.2171C>G (p.Ala724Gly)
c.2105C>G (p.Ala702Gly)
c.2063C>G (p.Ala688Gly)
c.1136C>G (p.Ala379Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407143G=CA2374774443KCNQ2c.2174C= (p.Ala725=)
c.2120C= (p.Ala707=)
c.1517C= (p.Ala506=)
c.2027C= (p.Ala676=)
c.1688C= (p.Ala563=)
c.2036C= (p.Ala679=)
c.2144C= (p.Ala715=)
c.2108C= (p.Ala703=)
c.2066C= (p.Ala689=)
c.1680-6300C= (n.1680-6300C=)
c.2162C= (p.Ala721=)
c.2228C= (p.Ala743=)
c.2225C= (p.Ala742=)
c.2198C= (p.Ala733=)
c.2117C= (p.Ala706=)
c.2102C= (p.Ala701=)
c.1709C= (p.Ala570=)
c.2171C= (p.Ala724=)
c.2105C= (p.Ala702=)
c.2063C= (p.Ala688=)
c.1136C= (p.Ala379=)
20g.63407143G>TCA409638954KCNQ2c.2174C>A (p.Ala725Glu)
c.2120C>A (p.Ala707Glu)
c.1517C>A (p.Ala506Glu)
c.2027C>A (p.Ala676Glu)
c.1688C>A (p.Ala563Glu)
c.2036C>A (p.Ala679Glu)
c.2144C>A (p.Ala715Glu)
c.2108C>A (p.Ala703Glu)
c.2066C>A (p.Ala689Glu)
c.1680-6300C>A (n.1680-6300C>A)
c.2162C>A (p.Ala721Glu)
c.2228C>A (p.Ala743Glu)
c.2225C>A (p.Ala742Glu)
c.2198C>A (p.Ala733Glu)
c.2117C>A (p.Ala706Glu)
c.2102C>A (p.Ala701Glu)
c.1709C>A (p.Ala570Glu)
c.2171C>A (p.Ala724Glu)
c.2105C>A (p.Ala702Glu)
c.2063C>A (p.Ala688Glu)
c.1136C>A (p.Ala379Glu)
 gnomAD v4
20g.63407144C>ACA409638955KCNQ2c.2173G>T (p.Ala725Ser)
c.2119G>T (p.Ala707Ser)
c.1516G>T (p.Ala506Ser)
c.2026G>T (p.Ala676Ser)
c.1687G>T (p.Ala563Ser)
c.2035G>T (p.Ala679Ser)
c.2143G>T (p.Ala715Ser)
c.2107G>T (p.Ala703Ser)
c.2065G>T (p.Ala689Ser)
c.1680-6301G>T (n.1680-6301G>T)
c.2161G>T (p.Ala721Ser)
c.2227G>T (p.Ala743Ser)
c.2224G>T (p.Ala742Ser)
c.2197G>T (p.Ala733Ser)
c.2116G>T (p.Ala706Ser)
c.2101G>T (p.Ala701Ser)
c.1708G>T (p.Ala570Ser)
c.2170G>T (p.Ala724Ser)
c.2104G>T (p.Ala702Ser)
c.2062G>T (p.Ala688Ser)
c.1135G>T (p.Ala379Ser)
 gnomAD v4
20g.63407144C=CA2374774444KCNQ2c.2173G= (p.Ala725=)
c.2119G= (p.Ala707=)
c.1516G= (p.Ala506=)
c.2026G= (p.Ala676=)
c.1687G= (p.Ala563=)
c.2035G= (p.Ala679=)
c.2143G= (p.Ala715=)
c.2107G= (p.Ala703=)
c.2065G= (p.Ala689=)
c.1680-6301G= (n.1680-6301G=)
c.2161G= (p.Ala721=)
c.2227G= (p.Ala743=)
c.2224G= (p.Ala742=)
c.2197G= (p.Ala733=)
c.2116G= (p.Ala706=)
c.2101G= (p.Ala701=)
c.1708G= (p.Ala570=)
c.2170G= (p.Ala724=)
c.2104G= (p.Ala702=)
c.2062G= (p.Ala688=)
c.1135G= (p.Ala379=)
20g.63407144C>GCA409638956KCNQ2c.2173G>C (p.Ala725Pro)
c.2119G>C (p.Ala707Pro)
c.1516G>C (p.Ala506Pro)
c.2026G>C (p.Ala676Pro)
c.1687G>C (p.Ala563Pro)
c.2035G>C (p.Ala679Pro)
c.2143G>C (p.Ala715Pro)
c.2107G>C (p.Ala703Pro)
c.2065G>C (p.Ala689Pro)
c.1680-6301G>C (n.1680-6301G>C)
c.2161G>C (p.Ala721Pro)
c.2227G>C (p.Ala743Pro)
c.2224G>C (p.Ala742Pro)
c.2197G>C (p.Ala733Pro)
c.2116G>C (p.Ala706Pro)
c.2101G>C (p.Ala701Pro)
c.1708G>C (p.Ala570Pro)
c.2170G>C (p.Ala724Pro)
c.2104G>C (p.Ala702Pro)
c.2062G>C (p.Ala688Pro)
c.1135G>C (p.Ala379Pro)
20g.63407144C>TCA9958144KCNQ2c.2173G>A (p.Ala725Thr)
c.2119G>A (p.Ala707Thr)
c.1516G>A (p.Ala506Thr)
c.2026G>A (p.Ala676Thr)
c.1687G>A (p.Ala563Thr)
c.2035G>A (p.Ala679Thr)
c.2143G>A (p.Ala715Thr)
c.2107G>A (p.Ala703Thr)
c.2065G>A (p.Ala689Thr)
c.1680-6301G>A (n.1680-6301G>A)
c.2161G>A (p.Ala721Thr)
c.2227G>A (p.Ala743Thr)
c.2224G>A (p.Ala742Thr)
c.2197G>A (p.Ala733Thr)
c.2116G>A (p.Ala706Thr)
c.2101G>A (p.Ala701Thr)
c.1708G>A (p.Ala570Thr)
c.2170G>A (p.Ala724Thr)
c.2104G>A (p.Ala702Thr)
c.2062G>A (p.Ala688Thr)
c.1135G>A (p.Ala379Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407145G>ACA9958145KCNQ2c.2172C>T (p.Ala724=)
c.2118C>T (p.Ala706=)
c.1515C>T (p.Ala505=)
c.2025C>T (p.Ala675=)
c.1686C>T (p.Ala562=)
c.2034C>T (p.Ala678=)
c.2142C>T (p.Ala714=)
c.2106C>T (p.Ala702=)
c.2064C>T (p.Ala688=)
c.1680-6302C>T (n.1680-6302C>T)
c.2160C>T (p.Ala720=)
c.2226C>T (p.Ala742=)
c.2223C>T (p.Ala741=)
c.2196C>T (p.Ala732=)
c.2115C>T (p.Ala705=)
c.2100C>T (p.Ala700=)
c.1707C>T (p.Ala569=)
c.2169C>T (p.Ala723=)
c.2103C>T (p.Ala701=)
c.2061C>T (p.Ala687=)
c.1134C>T (p.Ala378=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407145G>CCA511339289KCNQ2c.2172C>G (p.Ala724=)
c.2118C>G (p.Ala706=)
c.1515C>G (p.Ala505=)
c.2025C>G (p.Ala675=)
c.1686C>G (p.Ala562=)
c.2034C>G (p.Ala678=)
c.2142C>G (p.Ala714=)
c.2106C>G (p.Ala702=)
c.2064C>G (p.Ala688=)
c.1680-6302C>G (n.1680-6302C>G)
c.2160C>G (p.Ala720=)
c.2226C>G (p.Ala742=)
c.2223C>G (p.Ala741=)
c.2196C>G (p.Ala732=)
c.2115C>G (p.Ala705=)
c.2100C>G (p.Ala700=)
c.1707C>G (p.Ala569=)
c.2169C>G (p.Ala723=)
c.2103C>G (p.Ala701=)
c.2061C>G (p.Ala687=)
c.1134C>G (p.Ala378=)
20g.63407145G=CA2374774445KCNQ2c.2172C= (p.Ala724=)
c.2118C= (p.Ala706=)
c.1515C= (p.Ala505=)
c.2025C= (p.Ala675=)
c.1686C= (p.Ala562=)
c.2034C= (p.Ala678=)
c.2142C= (p.Ala714=)
c.2106C= (p.Ala702=)
c.2064C= (p.Ala688=)
c.1680-6302C= (n.1680-6302C=)
c.2160C= (p.Ala720=)
c.2226C= (p.Ala742=)
c.2223C= (p.Ala741=)
c.2196C= (p.Ala732=)
c.2115C= (p.Ala705=)
c.2100C= (p.Ala700=)
c.1707C= (p.Ala569=)
c.2169C= (p.Ala723=)
c.2103C= (p.Ala701=)
c.2061C= (p.Ala687=)
c.1134C= (p.Ala378=)
20g.63407145G>TCA511339291KCNQ2c.2172C>A (p.Ala724=)
c.2118C>A (p.Ala706=)
c.1515C>A (p.Ala505=)
c.2025C>A (p.Ala675=)
c.1686C>A (p.Ala562=)
c.2034C>A (p.Ala678=)
c.2142C>A (p.Ala714=)
c.2106C>A (p.Ala702=)
c.2064C>A (p.Ala688=)
c.1680-6302C>A (n.1680-6302C>A)
c.2160C>A (p.Ala720=)
c.2226C>A (p.Ala742=)
c.2223C>A (p.Ala741=)
c.2196C>A (p.Ala732=)
c.2115C>A (p.Ala705=)
c.2100C>A (p.Ala700=)
c.1707C>A (p.Ala569=)
c.2169C>A (p.Ala723=)
c.2103C>A (p.Ala701=)
c.2061C>A (p.Ala687=)
c.1134C>A (p.Ala378=)
 gnomAD v4
20g.63407146delCA2695230035KCNQ2c.2172del (p.Ala725ArgfsTer?)
c.2118del (p.Ala707ArgfsTer?)
c.1515del (p.Ala506ArgfsTer?)
c.2025del (p.Ala676ArgfsTer?)
c.1686del (p.Ala563ArgfsTer?)
c.2034del (p.Ala679ArgfsTer?)
c.2142del (p.Ala715ArgfsTer?)
c.2106del (p.Ala703ArgfsTer?)
c.2064del (p.Ala689ArgfsTer?)
c.1680-6302del (n.1680-6302del)
c.2160del (p.Ala721ArgfsTer?)
c.2226del (p.Ala743ArgfsTer?)
c.2223del (p.Ala742ArgfsTer?)
c.2196del (p.Ala733ArgfsTer?)
c.2115del (p.Ala706ArgfsTer?)
c.2100del (p.Ala701ArgfsTer?)
c.1707del (p.Ala570ArgfsTer?)
c.2169del (p.Ala724ArgfsTer?)
c.2103del (p.Ala702ArgfsTer?)
c.2061del (p.Ala688ArgfsTer?)
c.1134del (p.Ala379ArgfsTer?)
20g.63407146G>ACA409638957KCNQ2c.2171C>T (p.Ala724Val)
c.2117C>T (p.Ala706Val)
c.1514C>T (p.Ala505Val)
c.2024C>T (p.Ala675Val)
c.1685C>T (p.Ala562Val)
c.2033C>T (p.Ala678Val)
c.2141C>T (p.Ala714Val)
c.2105C>T (p.Ala702Val)
c.2063C>T (p.Ala688Val)
c.1680-6303C>T (n.1680-6303C>T)
c.2159C>T (p.Ala720Val)
c.2225C>T (p.Ala742Val)
c.2222C>T (p.Ala741Val)
c.2195C>T (p.Ala732Val)
c.2114C>T (p.Ala705Val)
c.2099C>T (p.Ala700Val)
c.1706C>T (p.Ala569Val)
c.2168C>T (p.Ala723Val)
c.2102C>T (p.Ala701Val)
c.2060C>T (p.Ala687Val)
c.1133C>T (p.Ala378Val)
 gnomAD v4
20g.63407146G>CCA409638958KCNQ2c.2171C>G (p.Ala724Gly)
c.2117C>G (p.Ala706Gly)
c.1514C>G (p.Ala505Gly)
c.2024C>G (p.Ala675Gly)
c.1685C>G (p.Ala562Gly)
c.2033C>G (p.Ala678Gly)
c.2141C>G (p.Ala714Gly)
c.2105C>G (p.Ala702Gly)
c.2063C>G (p.Ala688Gly)
c.1680-6303C>G (n.1680-6303C>G)
c.2159C>G (p.Ala720Gly)
c.2225C>G (p.Ala742Gly)
c.2222C>G (p.Ala741Gly)
c.2195C>G (p.Ala732Gly)
c.2114C>G (p.Ala705Gly)
c.2099C>G (p.Ala700Gly)
c.1706C>G (p.Ala569Gly)
c.2168C>G (p.Ala723Gly)
c.2102C>G (p.Ala701Gly)
c.2060C>G (p.Ala687Gly)
c.1133C>G (p.Ala378Gly)
20g.63407146G=CA2374774446KCNQ2c.2171C= (p.Ala724=)
c.2117C= (p.Ala706=)
c.1514C= (p.Ala505=)
c.2024C= (p.Ala675=)
c.1685C= (p.Ala562=)
c.2033C= (p.Ala678=)
c.2141C= (p.Ala714=)
c.2105C= (p.Ala702=)
c.2063C= (p.Ala688=)
c.1680-6303C= (n.1680-6303C=)
c.2159C= (p.Ala720=)
c.2225C= (p.Ala742=)
c.2222C= (p.Ala741=)
c.2195C= (p.Ala732=)
c.2114C= (p.Ala705=)
c.2099C= (p.Ala700=)
c.1706C= (p.Ala569=)
c.2168C= (p.Ala723=)
c.2102C= (p.Ala701=)
c.2060C= (p.Ala687=)
c.1133C= (p.Ala378=)
20g.63407146G>TCA317422271KCNQ2c.2171C>A (p.Ala724Asp)
c.2117C>A (p.Ala706Asp)
c.1514C>A (p.Ala505Asp)
c.2024C>A (p.Ala675Asp)
c.1685C>A (p.Ala562Asp)
c.2033C>A (p.Ala678Asp)
c.2141C>A (p.Ala714Asp)
c.2105C>A (p.Ala702Asp)
c.2063C>A (p.Ala688Asp)
c.1680-6303C>A (n.1680-6303C>A)
c.2159C>A (p.Ala720Asp)
c.2225C>A (p.Ala742Asp)
c.2222C>A (p.Ala741Asp)
c.2195C>A (p.Ala732Asp)
c.2114C>A (p.Ala705Asp)
c.2099C>A (p.Ala700Asp)
c.1706C>A (p.Ala569Asp)
c.2168C>A (p.Ala723Asp)
c.2102C>A (p.Ala701Asp)
c.2060C>A (p.Ala687Asp)
c.1133C>A (p.Ala378Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407147C>ACA409638959KCNQ2c.2170G>T (p.Ala724Ser)
c.2116G>T (p.Ala706Ser)
c.1513G>T (p.Ala505Ser)
c.2023G>T (p.Ala675Ser)
c.1684G>T (p.Ala562Ser)
c.2032G>T (p.Ala678Ser)
c.2140G>T (p.Ala714Ser)
c.2104G>T (p.Ala702Ser)
c.2062G>T (p.Ala688Ser)
c.1680-6304G>T (n.1680-6304G>T)
c.2158G>T (p.Ala720Ser)
c.2224G>T (p.Ala742Ser)
c.2221G>T (p.Ala741Ser)
c.2194G>T (p.Ala732Ser)
c.2113G>T (p.Ala705Ser)
c.2098G>T (p.Ala700Ser)
c.1705G>T (p.Ala569Ser)
c.2167G>T (p.Ala723Ser)
c.2101G>T (p.Ala701Ser)
c.2059G>T (p.Ala687Ser)
c.1132G>T (p.Ala378Ser)
 gnomAD v4
20g.63407147C>GCA409638960KCNQ2c.2170G>C (p.Ala724Pro)
c.2116G>C (p.Ala706Pro)
c.1513G>C (p.Ala505Pro)
c.2023G>C (p.Ala675Pro)
c.1684G>C (p.Ala562Pro)
c.2032G>C (p.Ala678Pro)
c.2140G>C (p.Ala714Pro)
c.2104G>C (p.Ala702Pro)
c.2062G>C (p.Ala688Pro)
c.1680-6304G>C (n.1680-6304G>C)
c.2158G>C (p.Ala720Pro)
c.2224G>C (p.Ala742Pro)
c.2221G>C (p.Ala741Pro)
c.2194G>C (p.Ala732Pro)
c.2113G>C (p.Ala705Pro)
c.2098G>C (p.Ala700Pro)
c.1705G>C (p.Ala569Pro)
c.2167G>C (p.Ala723Pro)
c.2101G>C (p.Ala701Pro)
c.2059G>C (p.Ala687Pro)
c.1132G>C (p.Ala378Pro)
20g.63407147C>TCA409638961KCNQ2c.2170G>A (p.Ala724Thr)
c.2116G>A (p.Ala706Thr)
c.1513G>A (p.Ala505Thr)
c.2023G>A (p.Ala675Thr)
c.1684G>A (p.Ala562Thr)
c.2032G>A (p.Ala678Thr)
c.2140G>A (p.Ala714Thr)
c.2104G>A (p.Ala702Thr)
c.2062G>A (p.Ala688Thr)
c.1680-6304G>A (n.1680-6304G>A)
c.2158G>A (p.Ala720Thr)
c.2224G>A (p.Ala742Thr)
c.2221G>A (p.Ala741Thr)
c.2194G>A (p.Ala732Thr)
c.2113G>A (p.Ala705Thr)
c.2098G>A (p.Ala700Thr)
c.1705G>A (p.Ala569Thr)
c.2167G>A (p.Ala723Thr)
c.2101G>A (p.Ala701Thr)
c.2059G>A (p.Ala687Thr)
c.1132G>A (p.Ala378Thr)
 gnomAD v4
20g.63407148C>ACA511339294KCNQ2c.2169G>T (p.Pro723=)
c.2115G>T (p.Pro705=)
c.1512G>T (p.Pro504=)
c.2022G>T (p.Pro674=)
c.1683G>T (p.Pro561=)
c.2031G>T (p.Pro677=)
c.2139G>T (p.Pro713=)
c.2103G>T (p.Pro701=)
c.2061G>T (p.Pro687=)
c.1679+6302G>T (n.1679+6302G>T)
c.2157G>T (p.Pro719=)
c.2223G>T (p.Pro741=)
c.2220G>T (p.Pro740=)
c.2193G>T (p.Pro731=)
c.2112G>T (p.Pro704=)
c.2097G>T (p.Pro699=)
c.1704G>T (p.Pro568=)
c.2166G>T (p.Pro722=)
c.2100G>T (p.Pro700=)
c.2058G>T (p.Pro686=)
c.1131G>T (p.Pro377=)
 dbSNP gnomAD v2 gnomAD v4
20g.63407148C=CA2374774447KCNQ2c.2169G= (p.Pro723=)
c.2115G= (p.Pro705=)
c.1512G= (p.Pro504=)
c.2022G= (p.Pro674=)
c.1683G= (p.Pro561=)
c.2031G= (p.Pro677=)
c.2139G= (p.Pro713=)
c.2103G= (p.Pro701=)
c.2061G= (p.Pro687=)
c.1679+6302G= (n.1679+6302G=)
c.2157G= (p.Pro719=)
c.2223G= (p.Pro741=)
c.2220G= (p.Pro740=)
c.2193G= (p.Pro731=)
c.2112G= (p.Pro704=)
c.2097G= (p.Pro699=)
c.1704G= (p.Pro568=)
c.2166G= (p.Pro722=)
c.2100G= (p.Pro700=)
c.2058G= (p.Pro686=)
c.1131G= (p.Pro377=)
20g.63407148C>GCA9958147KCNQ2c.2169G>C (p.Pro723=)
c.2115G>C (p.Pro705=)
c.1512G>C (p.Pro504=)
c.2022G>C (p.Pro674=)
c.1683G>C (p.Pro561=)
c.2031G>C (p.Pro677=)
c.2139G>C (p.Pro713=)
c.2103G>C (p.Pro701=)
c.2061G>C (p.Pro687=)
c.1679+6302G>C (n.1679+6302G>C)
c.2157G>C (p.Pro719=)
c.2223G>C (p.Pro741=)
c.2220G>C (p.Pro740=)
c.2193G>C (p.Pro731=)
c.2112G>C (p.Pro704=)
c.2097G>C (p.Pro699=)
c.1704G>C (p.Pro568=)
c.2166G>C (p.Pro722=)
c.2100G>C (p.Pro700=)
c.2058G>C (p.Pro686=)
c.1131G>C (p.Pro377=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407148C>TCA9958146KCNQ2c.2169G>A (p.Pro723=)
c.2115G>A (p.Pro705=)
c.1512G>A (p.Pro504=)
c.2022G>A (p.Pro674=)
c.1683G>A (p.Pro561=)
c.2031G>A (p.Pro677=)
c.2139G>A (p.Pro713=)
c.2103G>A (p.Pro701=)
c.2061G>A (p.Pro687=)
c.1679+6302G>A (n.1679+6302G>A)
c.2157G>A (p.Pro719=)
c.2223G>A (p.Pro741=)
c.2220G>A (p.Pro740=)
c.2193G>A (p.Pro731=)
c.2112G>A (p.Pro704=)
c.2097G>A (p.Pro699=)
c.1704G>A (p.Pro568=)
c.2166G>A (p.Pro722=)
c.2100G>A (p.Pro700=)
c.2058G>A (p.Pro686=)
c.1131G>A (p.Pro377=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407148_63407149delinsCGCA2374774448KCNQ2c.2168_2169delinsCG (p.Pro723=)
c.2114_2115delinsCG (p.Pro705=)
c.1511_1512delinsCG (p.Pro504=)
c.2021_2022delinsCG (p.Pro674=)
c.1682_1683delinsCG (p.Pro561=)
c.2030_2031delinsCG (p.Pro677=)
c.2138_2139delinsCG (p.Pro713=)
c.2102_2103delinsCG (p.Pro701=)
c.2060_2061delinsCG (p.Pro687=)
c.1679+6301_1679+6302delinsCG (n.1679+6301_1679+6302delinsCG)
c.2156_2157delinsCG (p.Pro719=)
c.2222_2223delinsCG (p.Pro741=)
c.2219_2220delinsCG (p.Pro740=)
c.2192_2193delinsCG (p.Pro731=)
c.2111_2112delinsCG (p.Pro704=)
c.2096_2097delinsCG (p.Pro699=)
c.1703_1704delinsCG (p.Pro568=)
c.2165_2166delinsCG (p.Pro722=)
c.2099_2100delinsCG (p.Pro700=)
c.2057_2058delinsCG (p.Pro686=)
c.1130_1131delinsCG (p.Pro377=)
20g.63407149G>ACA9958148KCNQ2c.2168C>T (p.Pro723Leu)
c.2114C>T (p.Pro705Leu)
c.1511C>T (p.Pro504Leu)
c.2021C>T (p.Pro674Leu)
c.1682C>T (p.Pro561Leu)
c.2030C>T (p.Pro677Leu)
c.2138C>T (p.Pro713Leu)
c.2102C>T (p.Pro701Leu)
c.2060C>T (p.Pro687Leu)
c.1679+6301C>T (n.1679+6301C>T)
c.2156C>T (p.Pro719Leu)
c.2222C>T (p.Pro741Leu)
c.2219C>T (p.Pro740Leu)
c.2192C>T (p.Pro731Leu)
c.2111C>T (p.Pro704Leu)
c.2096C>T (p.Pro699Leu)
c.1703C>T (p.Pro568Leu)
c.2165C>T (p.Pro722Leu)
c.2099C>T (p.Pro700Leu)
c.2057C>T (p.Pro686Leu)
c.1130C>T (p.Pro377Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407149G>CCA409638962KCNQ2c.2168C>G (p.Pro723Arg)
c.2114C>G (p.Pro705Arg)
c.1511C>G (p.Pro504Arg)
c.2021C>G (p.Pro674Arg)
c.1682C>G (p.Pro561Arg)
c.2030C>G (p.Pro677Arg)
c.2138C>G (p.Pro713Arg)
c.2102C>G (p.Pro701Arg)
c.2060C>G (p.Pro687Arg)
c.1679+6301C>G (n.1679+6301C>G)
c.2156C>G (p.Pro719Arg)
c.2222C>G (p.Pro741Arg)
c.2219C>G (p.Pro740Arg)
c.2192C>G (p.Pro731Arg)
c.2111C>G (p.Pro704Arg)
c.2096C>G (p.Pro699Arg)
c.1703C>G (p.Pro568Arg)
c.2165C>G (p.Pro722Arg)
c.2099C>G (p.Pro700Arg)
c.2057C>G (p.Pro686Arg)
c.1130C>G (p.Pro377Arg)
 gnomAD v4
20g.63407149G=CA2374774449KCNQ2c.2168C= (p.Pro723=)
c.2114C= (p.Pro705=)
c.1511C= (p.Pro504=)
c.2021C= (p.Pro674=)
c.1682C= (p.Pro561=)
c.2030C= (p.Pro677=)
c.2138C= (p.Pro713=)
c.2102C= (p.Pro701=)
c.2060C= (p.Pro687=)
c.1679+6301C= (n.1679+6301C=)
c.2156C= (p.Pro719=)
c.2222C= (p.Pro741=)
c.2219C= (p.Pro740=)
c.2192C= (p.Pro731=)
c.2111C= (p.Pro704=)
c.2096C= (p.Pro699=)
c.1703C= (p.Pro568=)
c.2165C= (p.Pro722=)
c.2099C= (p.Pro700=)
c.2057C= (p.Pro686=)
c.1130C= (p.Pro377=)
20g.63407149G>TCA409638963KCNQ2c.2168C>A (p.Pro723Gln)
c.2114C>A (p.Pro705Gln)
c.1511C>A (p.Pro504Gln)
c.2021C>A (p.Pro674Gln)
c.1682C>A (p.Pro561Gln)
c.2030C>A (p.Pro677Gln)
c.2138C>A (p.Pro713Gln)
c.2102C>A (p.Pro701Gln)
c.2060C>A (p.Pro687Gln)
c.1679+6301C>A (n.1679+6301C>A)
c.2156C>A (p.Pro719Gln)
c.2222C>A (p.Pro741Gln)
c.2219C>A (p.Pro740Gln)
c.2192C>A (p.Pro731Gln)
c.2111C>A (p.Pro704Gln)
c.2096C>A (p.Pro699Gln)
c.1703C>A (p.Pro568Gln)
c.2165C>A (p.Pro722Gln)
c.2099C>A (p.Pro700Gln)
c.2057C>A (p.Pro686Gln)
c.1130C>A (p.Pro377Gln)
 dbSNP gnomAD v4 COSMIC
20g.63407153dupCA2499225801KCNQ2c.2168dup (p.Ala724GlyfsTer?)
c.2114dup (p.Ala706GlyfsTer?)
c.1511dup (p.Ala505GlyfsTer?)
c.2021dup (p.Ala675GlyfsTer?)
c.1682dup (p.Ala562GlyfsTer?)
c.2030dup (p.Ala678GlyfsTer?)
c.2138dup (p.Ala714GlyfsTer?)
c.2102dup (p.Ala702GlyfsTer?)
c.2060dup (p.Ala688GlyfsTer?)
c.1679+6301dup (n.1679+6301dup)
c.2156dup (p.Ala720GlyfsTer?)
c.2222dup (p.Ala742GlyfsTer?)
c.2219dup (p.Ala741GlyfsTer?)
c.2192dup (p.Ala732GlyfsTer?)
c.2111dup (p.Ala705GlyfsTer?)
c.2096dup (p.Ala700GlyfsTer?)
c.1703dup (p.Ala569GlyfsTer?)
c.2165dup (p.Ala723GlyfsTer?)
c.2099dup (p.Ala701GlyfsTer?)
c.2057dup (p.Ala687GlyfsTer?)
c.1130dup (p.Ala378GlyfsTer?)
 ClinVar dbSNP
20g.63407153delCA658799397KCNQ2c.2168del (p.Pro723ArgfsTer?)
c.2114del (p.Pro705ArgfsTer?)
c.1511del (p.Pro504ArgfsTer?)
c.2021del (p.Pro674ArgfsTer?)
c.1682del (p.Pro561ArgfsTer?)
c.2030del (p.Pro677ArgfsTer?)
c.2138del (p.Pro713ArgfsTer?)
c.2102del (p.Pro701ArgfsTer?)
c.2060del (p.Pro687ArgfsTer?)
c.1679+6301del (n.1679+6301del)
c.2156del (p.Pro719ArgfsTer?)
c.2222del (p.Pro741ArgfsTer?)
c.2219del (p.Pro740ArgfsTer?)
c.2192del (p.Pro731ArgfsTer?)
c.2111del (p.Pro704ArgfsTer?)
c.2096del (p.Pro699ArgfsTer?)
c.1703del (p.Pro568ArgfsTer?)
c.2165del (p.Pro722ArgfsTer?)
c.2099del (p.Pro700ArgfsTer?)
c.2057del (p.Pro686ArgfsTer?)
c.1130del (p.Pro377ArgfsTer?)
 ClinVar dbSNP gnomAD v4
20g.63407150G>ACA9958149KCNQ2c.2167C>T (p.Pro723Ser)
c.2113C>T (p.Pro705Ser)
c.1510C>T (p.Pro504Ser)
c.2020C>T (p.Pro674Ser)
c.1681C>T (p.Pro561Ser)
c.2029C>T (p.Pro677Ser)
c.2137C>T (p.Pro713Ser)
c.2101C>T (p.Pro701Ser)
c.2059C>T (p.Pro687Ser)
c.1679+6300C>T (n.1679+6300C>T)
c.2155C>T (p.Pro719Ser)
c.2221C>T (p.Pro741Ser)
c.2218C>T (p.Pro740Ser)
c.2191C>T (p.Pro731Ser)
c.2110C>T (p.Pro704Ser)
c.2095C>T (p.Pro699Ser)
c.1702C>T (p.Pro568Ser)
c.2164C>T (p.Pro722Ser)
c.2098C>T (p.Pro700Ser)
c.2056C>T (p.Pro686Ser)
c.1129C>T (p.Pro377Ser)
 dbSNP ExAC gnomAD v2
20g.63407150G>CCA409638964KCNQ2c.2167C>G (p.Pro723Ala)
c.2113C>G (p.Pro705Ala)
c.1510C>G (p.Pro504Ala)
c.2020C>G (p.Pro674Ala)
c.1681C>G (p.Pro561Ala)
c.2029C>G (p.Pro677Ala)
c.2137C>G (p.Pro713Ala)
c.2101C>G (p.Pro701Ala)
c.2059C>G (p.Pro687Ala)
c.1679+6300C>G (n.1679+6300C>G)
c.2155C>G (p.Pro719Ala)
c.2221C>G (p.Pro741Ala)
c.2218C>G (p.Pro740Ala)
c.2191C>G (p.Pro731Ala)
c.2110C>G (p.Pro704Ala)
c.2095C>G (p.Pro699Ala)
c.1702C>G (p.Pro568Ala)
c.2164C>G (p.Pro722Ala)
c.2098C>G (p.Pro700Ala)
c.2056C>G (p.Pro686Ala)
c.1129C>G (p.Pro377Ala)
 gnomAD v4
20g.63407150G=CA2374774450KCNQ2c.2167C= (p.Pro723=)
c.2113C= (p.Pro705=)
c.1510C= (p.Pro504=)
c.2020C= (p.Pro674=)
c.1681C= (p.Pro561=)
c.2029C= (p.Pro677=)
c.2137C= (p.Pro713=)
c.2101C= (p.Pro701=)
c.2059C= (p.Pro687=)
c.1679+6300C= (n.1679+6300C=)
c.2155C= (p.Pro719=)
c.2221C= (p.Pro741=)
c.2218C= (p.Pro740=)
c.2191C= (p.Pro731=)
c.2110C= (p.Pro704=)
c.2095C= (p.Pro699=)
c.1702C= (p.Pro568=)
c.2164C= (p.Pro722=)
c.2098C= (p.Pro700=)
c.2056C= (p.Pro686=)
c.1129C= (p.Pro377=)
20g.63407150G>TCA409638965KCNQ2c.2167C>A (p.Pro723Thr)
c.2113C>A (p.Pro705Thr)
c.1510C>A (p.Pro504Thr)
c.2020C>A (p.Pro674Thr)
c.1681C>A (p.Pro561Thr)
c.2029C>A (p.Pro677Thr)
c.2137C>A (p.Pro713Thr)
c.2101C>A (p.Pro701Thr)
c.2059C>A (p.Pro687Thr)
c.1679+6300C>A (n.1679+6300C>A)
c.2155C>A (p.Pro719Thr)
c.2221C>A (p.Pro741Thr)
c.2218C>A (p.Pro740Thr)
c.2191C>A (p.Pro731Thr)
c.2110C>A (p.Pro704Thr)
c.2095C>A (p.Pro699Thr)
c.1702C>A (p.Pro568Thr)
c.2164C>A (p.Pro722Thr)
c.2098C>A (p.Pro700Thr)
c.2056C>A (p.Pro686Thr)
c.1129C>A (p.Pro377Thr)
 gnomAD v4
20g.63407151G>ACA511339303KCNQ2c.2166C>T (p.Pro722=)
c.2112C>T (p.Pro704=)
c.1509C>T (p.Pro503=)
c.2019C>T (p.Pro673=)
c.1680C>T (p.Pro560=)
c.2028C>T (p.Pro676=)
c.2136C>T (p.Pro712=)
c.2100C>T (p.Pro700=)
c.2058C>T (p.Pro686=)
c.1679+6299C>T (n.1679+6299C>T)
c.2154C>T (p.Pro718=)
c.2220C>T (p.Pro740=)
c.2217C>T (p.Pro739=)
c.2190C>T (p.Pro730=)
c.2109C>T (p.Pro703=)
c.2094C>T (p.Pro698=)
c.1701C>T (p.Pro567=)
c.2163C>T (p.Pro721=)
c.2097C>T (p.Pro699=)
c.2055C>T (p.Pro685=)
c.1128C>T (p.Pro376=)
20g.63407151G>CCA511339304KCNQ2c.2166C>G (p.Pro722=)
c.2112C>G (p.Pro704=)
c.1509C>G (p.Pro503=)
c.2019C>G (p.Pro673=)
c.1680C>G (p.Pro560=)
c.2028C>G (p.Pro676=)
c.2136C>G (p.Pro712=)
c.2100C>G (p.Pro700=)
c.2058C>G (p.Pro686=)
c.1679+6299C>G (n.1679+6299C>G)
c.2154C>G (p.Pro718=)
c.2220C>G (p.Pro740=)
c.2217C>G (p.Pro739=)
c.2190C>G (p.Pro730=)
c.2109C>G (p.Pro703=)
c.2094C>G (p.Pro698=)
c.1701C>G (p.Pro567=)
c.2163C>G (p.Pro721=)
c.2097C>G (p.Pro699=)
c.2055C>G (p.Pro685=)
c.1128C>G (p.Pro376=)
20g.63407151G>TCA511339305KCNQ2c.2166C>A (p.Pro722=)
c.2112C>A (p.Pro704=)
c.1509C>A (p.Pro503=)
c.2019C>A (p.Pro673=)
c.1680C>A (p.Pro560=)
c.2028C>A (p.Pro676=)
c.2136C>A (p.Pro712=)
c.2100C>A (p.Pro700=)
c.2058C>A (p.Pro686=)
c.1679+6299C>A (n.1679+6299C>A)
c.2154C>A (p.Pro718=)
c.2220C>A (p.Pro740=)
c.2217C>A (p.Pro739=)
c.2190C>A (p.Pro730=)
c.2109C>A (p.Pro703=)
c.2094C>A (p.Pro698=)
c.1701C>A (p.Pro567=)
c.2163C>A (p.Pro721=)
c.2097C>A (p.Pro699=)
c.2055C>A (p.Pro685=)
c.1128C>A (p.Pro376=)
 gnomAD v4
20g.63407152G>ACA409638966KCNQ2c.2165C>T (p.Pro722Leu)
c.2111C>T (p.Pro704Leu)
c.1508C>T (p.Pro503Leu)
c.2018C>T (p.Pro673Leu)
c.1679C>T (p.Pro560Leu)
c.2027C>T (p.Pro676Leu)
c.2135C>T (p.Pro712Leu)
c.2099C>T (p.Pro700Leu)
c.2057C>T (p.Pro686Leu)
c.1679+6298C>T (n.1679+6298C>T)
c.2153C>T (p.Pro718Leu)
c.2219C>T (p.Pro740Leu)
c.2216C>T (p.Pro739Leu)
c.2189C>T (p.Pro730Leu)
c.2108C>T (p.Pro703Leu)
c.2093C>T (p.Pro698Leu)
c.1700C>T (p.Pro567Leu)
c.2162C>T (p.Pro721Leu)
c.2096C>T (p.Pro699Leu)
c.2054C>T (p.Pro685Leu)
c.1127C>T (p.Pro376Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407152G>CCA409638967KCNQ2c.2165C>G (p.Pro722Arg)
c.2111C>G (p.Pro704Arg)
c.1508C>G (p.Pro503Arg)
c.2018C>G (p.Pro673Arg)
c.1679C>G (p.Pro560Arg)
c.2027C>G (p.Pro676Arg)
c.2135C>G (p.Pro712Arg)
c.2099C>G (p.Pro700Arg)
c.2057C>G (p.Pro686Arg)
c.1679+6298C>G (n.1679+6298C>G)
c.2153C>G (p.Pro718Arg)
c.2219C>G (p.Pro740Arg)
c.2216C>G (p.Pro739Arg)
c.2189C>G (p.Pro730Arg)
c.2108C>G (p.Pro703Arg)
c.2093C>G (p.Pro698Arg)
c.1700C>G (p.Pro567Arg)
c.2162C>G (p.Pro721Arg)
c.2096C>G (p.Pro699Arg)
c.2054C>G (p.Pro685Arg)
c.1127C>G (p.Pro376Arg)
20g.63407152G=CA2374774451KCNQ2c.2165C= (p.Pro722=)
c.2111C= (p.Pro704=)
c.1508C= (p.Pro503=)
c.2018C= (p.Pro673=)
c.1679C= (p.Pro560=)
c.2027C= (p.Pro676=)
c.2135C= (p.Pro712=)
c.2099C= (p.Pro700=)
c.2057C= (p.Pro686=)
c.1679+6298C= (n.1679+6298C=)
c.2153C= (p.Pro718=)
c.2219C= (p.Pro740=)
c.2216C= (p.Pro739=)
c.2189C= (p.Pro730=)
c.2108C= (p.Pro703=)
c.2093C= (p.Pro698=)
c.1700C= (p.Pro567=)
c.2162C= (p.Pro721=)
c.2096C= (p.Pro699=)
c.2054C= (p.Pro685=)
c.1127C= (p.Pro376=)
20g.63407152G>TCA409638968KCNQ2c.2165C>A (p.Pro722His)
c.2111C>A (p.Pro704His)
c.1508C>A (p.Pro503His)
c.2018C>A (p.Pro673His)
c.1679C>A (p.Pro560His)
c.2027C>A (p.Pro676His)
c.2135C>A (p.Pro712His)
c.2099C>A (p.Pro700His)
c.2057C>A (p.Pro686His)
c.1679+6298C>A (n.1679+6298C>A)
c.2153C>A (p.Pro718His)
c.2219C>A (p.Pro740His)
c.2216C>A (p.Pro739His)
c.2189C>A (p.Pro730His)
c.2108C>A (p.Pro703His)
c.2093C>A (p.Pro698His)
c.1700C>A (p.Pro567His)
c.2162C>A (p.Pro721His)
c.2096C>A (p.Pro699His)
c.2054C>A (p.Pro685His)
c.1127C>A (p.Pro376His)
 gnomAD v4
20g.63407153G>ACA409638969KCNQ2c.2164C>T (p.Pro722Ser)
c.2110C>T (p.Pro704Ser)
c.1507C>T (p.Pro503Ser)
c.2017C>T (p.Pro673Ser)
c.1678C>T (p.Pro560Ser)
c.2026C>T (p.Pro676Ser)
c.2134C>T (p.Pro712Ser)
c.2098C>T (p.Pro700Ser)
c.2056C>T (p.Pro686Ser)
c.1679+6297C>T (n.1679+6297C>T)
c.2152C>T (p.Pro718Ser)
c.2218C>T (p.Pro740Ser)
c.2215C>T (p.Pro739Ser)
c.2188C>T (p.Pro730Ser)
c.2107C>T (p.Pro703Ser)
c.2092C>T (p.Pro698Ser)
c.1699C>T (p.Pro567Ser)
c.2161C>T (p.Pro721Ser)
c.2095C>T (p.Pro699Ser)
c.2053C>T (p.Pro685Ser)
c.1126C>T (p.Pro376Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407153G>CCA409638970KCNQ2c.2164C>G (p.Pro722Ala)
c.2110C>G (p.Pro704Ala)
c.1507C>G (p.Pro503Ala)
c.2017C>G (p.Pro673Ala)
c.1678C>G (p.Pro560Ala)
c.2026C>G (p.Pro676Ala)
c.2134C>G (p.Pro712Ala)
c.2098C>G (p.Pro700Ala)
c.2056C>G (p.Pro686Ala)
c.1679+6297C>G (n.1679+6297C>G)
c.2152C>G (p.Pro718Ala)
c.2218C>G (p.Pro740Ala)
c.2215C>G (p.Pro739Ala)
c.2188C>G (p.Pro730Ala)
c.2107C>G (p.Pro703Ala)
c.2092C>G (p.Pro698Ala)
c.1699C>G (p.Pro567Ala)
c.2161C>G (p.Pro721Ala)
c.2095C>G (p.Pro699Ala)
c.2053C>G (p.Pro685Ala)
c.1126C>G (p.Pro376Ala)
20g.63407153G=CA2374774452KCNQ2c.2164C= (p.Pro722=)
c.2110C= (p.Pro704=)
c.1507C= (p.Pro503=)
c.2017C= (p.Pro673=)
c.1678C= (p.Pro560=)
c.2026C= (p.Pro676=)
c.2134C= (p.Pro712=)
c.2098C= (p.Pro700=)
c.2056C= (p.Pro686=)
c.1679+6297C= (n.1679+6297C=)
c.2152C= (p.Pro718=)
c.2218C= (p.Pro740=)
c.2215C= (p.Pro739=)
c.2188C= (p.Pro730=)
c.2107C= (p.Pro703=)
c.2092C= (p.Pro698=)
c.1699C= (p.Pro567=)
c.2161C= (p.Pro721=)
c.2095C= (p.Pro699=)
c.2053C= (p.Pro685=)
c.1126C= (p.Pro376=)
20g.63407153G>TCA409638971KCNQ2c.2164C>A (p.Pro722Thr)
c.2110C>A (p.Pro704Thr)
c.1507C>A (p.Pro503Thr)
c.2017C>A (p.Pro673Thr)
c.1678C>A (p.Pro560Thr)
c.2026C>A (p.Pro676Thr)
c.2134C>A (p.Pro712Thr)
c.2098C>A (p.Pro700Thr)
c.2056C>A (p.Pro686Thr)
c.1679+6297C>A (n.1679+6297C>A)
c.2152C>A (p.Pro718Thr)
c.2218C>A (p.Pro740Thr)
c.2215C>A (p.Pro739Thr)
c.2188C>A (p.Pro730Thr)
c.2107C>A (p.Pro703Thr)
c.2092C>A (p.Pro698Thr)
c.1699C>A (p.Pro567Thr)
c.2161C>A (p.Pro721Thr)
c.2095C>A (p.Pro699Thr)
c.2053C>A (p.Pro685Thr)
c.1126C>A (p.Pro376Thr)
 gnomAD v4
20g.63407154C>ACA9958150KCNQ2c.2163G>T (p.Ala721=)
c.2109G>T (p.Ala703=)
c.1506G>T (p.Ala502=)
c.2016G>T (p.Ala672=)
c.1677G>T (p.Ala559=)
c.2025G>T (p.Ala675=)
c.2133G>T (p.Ala711=)
c.2097G>T (p.Ala699=)
c.2055G>T (p.Ala685=)
c.1679+6296G>T (n.1679+6296G>T)
c.2151G>T (p.Ala717=)
c.2217G>T (p.Ala739=)
c.2214G>T (p.Ala738=)
c.2187G>T (p.Ala729=)
c.2106G>T (p.Ala702=)
c.2091G>T (p.Ala697=)
c.1698G>T (p.Ala566=)
c.2160G>T (p.Ala720=)
c.2094G>T (p.Ala698=)
c.2052G>T (p.Ala684=)
c.1125G>T (p.Ala375=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407154C=CA2374774453KCNQ2c.2163G= (p.Ala721=)
c.2109G= (p.Ala703=)
c.1506G= (p.Ala502=)
c.2016G= (p.Ala672=)
c.1677G= (p.Ala559=)
c.2025G= (p.Ala675=)
c.2133G= (p.Ala711=)
c.2097G= (p.Ala699=)
c.2055G= (p.Ala685=)
c.1679+6296G= (n.1679+6296G=)
c.2151G= (p.Ala717=)
c.2217G= (p.Ala739=)
c.2214G= (p.Ala738=)
c.2187G= (p.Ala729=)
c.2106G= (p.Ala702=)
c.2091G= (p.Ala697=)
c.1698G= (p.Ala566=)
c.2160G= (p.Ala720=)
c.2094G= (p.Ala698=)
c.2052G= (p.Ala684=)
c.1125G= (p.Ala375=)
20g.63407154C>GCA511339311KCNQ2c.2163G>C (p.Ala721=)
c.2109G>C (p.Ala703=)
c.1506G>C (p.Ala502=)
c.2016G>C (p.Ala672=)
c.1677G>C (p.Ala559=)
c.2025G>C (p.Ala675=)
c.2133G>C (p.Ala711=)
c.2097G>C (p.Ala699=)
c.2055G>C (p.Ala685=)
c.1679+6296G>C (n.1679+6296G>C)
c.2151G>C (p.Ala717=)
c.2217G>C (p.Ala739=)
c.2214G>C (p.Ala738=)
c.2187G>C (p.Ala729=)
c.2106G>C (p.Ala702=)
c.2091G>C (p.Ala697=)
c.1698G>C (p.Ala566=)
c.2160G>C (p.Ala720=)
c.2094G>C (p.Ala698=)
c.2052G>C (p.Ala684=)
c.1125G>C (p.Ala375=)
20g.63407154C>TCA511339312KCNQ2c.2163G>A (p.Ala721=)
c.2109G>A (p.Ala703=)
c.1506G>A (p.Ala502=)
c.2016G>A (p.Ala672=)
c.1677G>A (p.Ala559=)
c.2025G>A (p.Ala675=)
c.2133G>A (p.Ala711=)
c.2097G>A (p.Ala699=)
c.2055G>A (p.Ala685=)
c.1679+6296G>A (n.1679+6296G>A)
c.2151G>A (p.Ala717=)
c.2217G>A (p.Ala739=)
c.2214G>A (p.Ala738=)
c.2187G>A (p.Ala729=)
c.2106G>A (p.Ala702=)
c.2091G>A (p.Ala697=)
c.1698G>A (p.Ala566=)
c.2160G>A (p.Ala720=)
c.2094G>A (p.Ala698=)
c.2052G>A (p.Ala684=)
c.1125G>A (p.Ala375=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407155G>ACA9958151KCNQ2c.2162C>T (p.Ala721Val)
c.2108C>T (p.Ala703Val)
c.1505C>T (p.Ala502Val)
c.2015C>T (p.Ala672Val)
c.1676C>T (p.Ala559Val)
c.2024C>T (p.Ala675Val)
c.2132C>T (p.Ala711Val)
c.2096C>T (p.Ala699Val)
c.2054C>T (p.Ala685Val)
c.1679+6295C>T (n.1679+6295C>T)
c.2150C>T (p.Ala717Val)
c.2216C>T (p.Ala739Val)
c.2213C>T (p.Ala738Val)
c.2186C>T (p.Ala729Val)
c.2105C>T (p.Ala702Val)
c.2090C>T (p.Ala697Val)
c.1697C>T (p.Ala566Val)
c.2159C>T (p.Ala720Val)
c.2093C>T (p.Ala698Val)
c.2051C>T (p.Ala684Val)
c.1124C>T (p.Ala375Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407155G>CCA409638972KCNQ2c.2162C>G (p.Ala721Gly)
c.2108C>G (p.Ala703Gly)
c.1505C>G (p.Ala502Gly)
c.2015C>G (p.Ala672Gly)
c.1676C>G (p.Ala559Gly)
c.2024C>G (p.Ala675Gly)
c.2132C>G (p.Ala711Gly)
c.2096C>G (p.Ala699Gly)
c.2054C>G (p.Ala685Gly)
c.1679+6295C>G (n.1679+6295C>G)
c.2150C>G (p.Ala717Gly)
c.2216C>G (p.Ala739Gly)
c.2213C>G (p.Ala738Gly)
c.2186C>G (p.Ala729Gly)
c.2105C>G (p.Ala702Gly)
c.2090C>G (p.Ala697Gly)
c.1697C>G (p.Ala566Gly)
c.2159C>G (p.Ala720Gly)
c.2093C>G (p.Ala698Gly)
c.2051C>G (p.Ala684Gly)
c.1124C>G (p.Ala375Gly)
20g.63407155G=CA2374774454KCNQ2c.2162C= (p.Ala721=)
c.2108C= (p.Ala703=)
c.1505C= (p.Ala502=)
c.2015C= (p.Ala672=)
c.1676C= (p.Ala559=)
c.2024C= (p.Ala675=)
c.2132C= (p.Ala711=)
c.2096C= (p.Ala699=)
c.2054C= (p.Ala685=)
c.1679+6295C= (n.1679+6295C=)
c.2150C= (p.Ala717=)
c.2216C= (p.Ala739=)
c.2213C= (p.Ala738=)
c.2186C= (p.Ala729=)
c.2105C= (p.Ala702=)
c.2090C= (p.Ala697=)
c.1697C= (p.Ala566=)
c.2159C= (p.Ala720=)
c.2093C= (p.Ala698=)
c.2051C= (p.Ala684=)
c.1124C= (p.Ala375=)
20g.63407155G>TCA409638973KCNQ2c.2162C>A (p.Ala721Glu)
c.2108C>A (p.Ala703Glu)
c.1505C>A (p.Ala502Glu)
c.2015C>A (p.Ala672Glu)
c.1676C>A (p.Ala559Glu)
c.2024C>A (p.Ala675Glu)
c.2132C>A (p.Ala711Glu)
c.2096C>A (p.Ala699Glu)
c.2054C>A (p.Ala685Glu)
c.1679+6295C>A (n.1679+6295C>A)
c.2150C>A (p.Ala717Glu)
c.2216C>A (p.Ala739Glu)
c.2213C>A (p.Ala738Glu)
c.2186C>A (p.Ala729Glu)
c.2105C>A (p.Ala702Glu)
c.2090C>A (p.Ala697Glu)
c.1697C>A (p.Ala566Glu)
c.2159C>A (p.Ala720Glu)
c.2093C>A (p.Ala698Glu)
c.2051C>A (p.Ala684Glu)
c.1124C>A (p.Ala375Glu)
 gnomAD v4
20g.63407156C>ACA409638974KCNQ2c.2161G>T (p.Ala721Ser)
c.2107G>T (p.Ala703Ser)
c.1504G>T (p.Ala502Ser)
c.2014G>T (p.Ala672Ser)
c.1675G>T (p.Ala559Ser)
c.2023G>T (p.Ala675Ser)
c.2131G>T (p.Ala711Ser)
c.2095G>T (p.Ala699Ser)
c.2053G>T (p.Ala685Ser)
c.1679+6294G>T (n.1679+6294G>T)
c.2149G>T (p.Ala717Ser)
c.2215G>T (p.Ala739Ser)
c.2212G>T (p.Ala738Ser)
c.2185G>T (p.Ala729Ser)
c.2104G>T (p.Ala702Ser)
c.2089G>T (p.Ala697Ser)
c.1696G>T (p.Ala566Ser)
c.2158G>T (p.Ala720Ser)
c.2092G>T (p.Ala698Ser)
c.2050G>T (p.Ala684Ser)
c.1123G>T (p.Ala375Ser)
20g.63407156C>GCA409638975KCNQ2c.2161G>C (p.Ala721Pro)
c.2107G>C (p.Ala703Pro)
c.1504G>C (p.Ala502Pro)
c.2014G>C (p.Ala672Pro)
c.1675G>C (p.Ala559Pro)
c.2023G>C (p.Ala675Pro)
c.2131G>C (p.Ala711Pro)
c.2095G>C (p.Ala699Pro)
c.2053G>C (p.Ala685Pro)
c.1679+6294G>C (n.1679+6294G>C)
c.2149G>C (p.Ala717Pro)
c.2215G>C (p.Ala739Pro)
c.2212G>C (p.Ala738Pro)
c.2185G>C (p.Ala729Pro)
c.2104G>C (p.Ala702Pro)
c.2089G>C (p.Ala697Pro)
c.1696G>C (p.Ala566Pro)
c.2158G>C (p.Ala720Pro)
c.2092G>C (p.Ala698Pro)
c.2050G>C (p.Ala684Pro)
c.1123G>C (p.Ala375Pro)
20g.63407156C>TCA409638976KCNQ2c.2161G>A (p.Ala721Thr)
c.2107G>A (p.Ala703Thr)
c.1504G>A (p.Ala502Thr)
c.2014G>A (p.Ala672Thr)
c.1675G>A (p.Ala559Thr)
c.2023G>A (p.Ala675Thr)
c.2131G>A (p.Ala711Thr)
c.2095G>A (p.Ala699Thr)
c.2053G>A (p.Ala685Thr)
c.1679+6294G>A (n.1679+6294G>A)
c.2149G>A (p.Ala717Thr)
c.2215G>A (p.Ala739Thr)
c.2212G>A (p.Ala738Thr)
c.2185G>A (p.Ala729Thr)
c.2104G>A (p.Ala702Thr)
c.2089G>A (p.Ala697Thr)
c.1696G>A (p.Ala566Thr)
c.2158G>A (p.Ala720Thr)
c.2092G>A (p.Ala698Thr)
c.2050G>A (p.Ala684Thr)
c.1123G>A (p.Ala375Thr)
 gnomAD v4
20g.63407157C>ACA511339318KCNQ2c.2160G>T (p.Ser720=)
c.2106G>T (p.Ser702=)
c.1503G>T (p.Ser501=)
c.2013G>T (p.Ser671=)
c.1674G>T (p.Ser558=)
c.2022G>T (p.Ser674=)
c.2130G>T (p.Ser710=)
c.2094G>T (p.Ser698=)
c.2052G>T (p.Ser684=)
c.1679+6293G>T (n.1679+6293G>T)
c.2148G>T (p.Ser716=)
c.2214G>T (p.Ser738=)
c.2211G>T (p.Ser737=)
c.2184G>T (p.Ser728=)
c.2103G>T (p.Ser701=)
c.2088G>T (p.Ser696=)
c.1695G>T (p.Ser565=)
c.2157G>T (p.Ser719=)
c.2091G>T (p.Ser697=)
c.2049G>T (p.Ser683=)
c.1122G>T (p.Ser374=)
 gnomAD v4
20g.63407157C=CA2374774455KCNQ2c.2160G= (p.Ser720=)
c.2106G= (p.Ser702=)
c.1503G= (p.Ser501=)
c.2013G= (p.Ser671=)
c.1674G= (p.Ser558=)
c.2022G= (p.Ser674=)
c.2130G= (p.Ser710=)
c.2094G= (p.Ser698=)
c.2052G= (p.Ser684=)
c.1679+6293G= (n.1679+6293G=)
c.2148G= (p.Ser716=)
c.2214G= (p.Ser738=)
c.2211G= (p.Ser737=)
c.2184G= (p.Ser728=)
c.2103G= (p.Ser701=)
c.2088G= (p.Ser696=)
c.1695G= (p.Ser565=)
c.2157G= (p.Ser719=)
c.2091G= (p.Ser697=)
c.2049G= (p.Ser683=)
c.1122G= (p.Ser374=)
20g.63407157C>GCA511339319KCNQ2c.2160G>C (p.Ser720=)
c.2106G>C (p.Ser702=)
c.1503G>C (p.Ser501=)
c.2013G>C (p.Ser671=)
c.1674G>C (p.Ser558=)
c.2022G>C (p.Ser674=)
c.2130G>C (p.Ser710=)
c.2094G>C (p.Ser698=)
c.2052G>C (p.Ser684=)
c.1679+6293G>C (n.1679+6293G>C)
c.2148G>C (p.Ser716=)
c.2214G>C (p.Ser738=)
c.2211G>C (p.Ser737=)
c.2184G>C (p.Ser728=)
c.2103G>C (p.Ser701=)
c.2088G>C (p.Ser696=)
c.1695G>C (p.Ser565=)
c.2157G>C (p.Ser719=)
c.2091G>C (p.Ser697=)
c.2049G>C (p.Ser683=)
c.1122G>C (p.Ser374=)
 gnomAD v4
20g.63407157C>TCA302778KCNQ2c.2160G>A (p.Ser720=)
c.2106G>A (p.Ser702=)
c.1503G>A (p.Ser501=)
c.2013G>A (p.Ser671=)
c.1674G>A (p.Ser558=)
c.2022G>A (p.Ser674=)
c.2130G>A (p.Ser710=)
c.2094G>A (p.Ser698=)
c.2052G>A (p.Ser684=)
c.1679+6293G>A (n.1679+6293G>A)
c.2148G>A (p.Ser716=)
c.2214G>A (p.Ser738=)
c.2211G>A (p.Ser737=)
c.2184G>A (p.Ser728=)
c.2103G>A (p.Ser701=)
c.2088G>A (p.Ser696=)
c.1695G>A (p.Ser565=)
c.2157G>A (p.Ser719=)
c.2091G>A (p.Ser697=)
c.2049G>A (p.Ser683=)
c.1122G>A (p.Ser374=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407158G>ACA9958152KCNQ2c.2159C>T (p.Ser720Leu)
c.2105C>T (p.Ser702Leu)
c.1502C>T (p.Ser501Leu)
c.2012C>T (p.Ser671Leu)
c.1673C>T (p.Ser558Leu)
c.2021C>T (p.Ser674Leu)
c.2129C>T (p.Ser710Leu)
c.2093C>T (p.Ser698Leu)
c.2051C>T (p.Ser684Leu)
c.1679+6292C>T (n.1679+6292C>T)
c.2147C>T (p.Ser716Leu)
c.2213C>T (p.Ser738Leu)
c.2210C>T (p.Ser737Leu)
c.2183C>T (p.Ser728Leu)
c.2102C>T (p.Ser701Leu)
c.2087C>T (p.Ser696Leu)
c.1694C>T (p.Ser565Leu)
c.2156C>T (p.Ser719Leu)
c.2090C>T (p.Ser697Leu)
c.2048C>T (p.Ser683Leu)
c.1121C>T (p.Ser374Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407158G>CCA409638977KCNQ2c.2159C>G (p.Ser720Trp)
c.2105C>G (p.Ser702Trp)
c.1502C>G (p.Ser501Trp)
c.2012C>G (p.Ser671Trp)
c.1673C>G (p.Ser558Trp)
c.2021C>G (p.Ser674Trp)
c.2129C>G (p.Ser710Trp)
c.2093C>G (p.Ser698Trp)
c.2051C>G (p.Ser684Trp)
c.1679+6292C>G (n.1679+6292C>G)
c.2147C>G (p.Ser716Trp)
c.2213C>G (p.Ser738Trp)
c.2210C>G (p.Ser737Trp)
c.2183C>G (p.Ser728Trp)
c.2102C>G (p.Ser701Trp)
c.2087C>G (p.Ser696Trp)
c.1694C>G (p.Ser565Trp)
c.2156C>G (p.Ser719Trp)
c.2090C>G (p.Ser697Trp)
c.2048C>G (p.Ser683Trp)
c.1121C>G (p.Ser374Trp)
20g.63407158G=CA2374774457KCNQ2c.2159C= (p.Ser720=)
c.2105C= (p.Ser702=)
c.1502C= (p.Ser501=)
c.2012C= (p.Ser671=)
c.1673C= (p.Ser558=)
c.2021C= (p.Ser674=)
c.2129C= (p.Ser710=)
c.2093C= (p.Ser698=)
c.2051C= (p.Ser684=)
c.1679+6292C= (n.1679+6292C=)
c.2147C= (p.Ser716=)
c.2213C= (p.Ser738=)
c.2210C= (p.Ser737=)
c.2183C= (p.Ser728=)
c.2102C= (p.Ser701=)
c.2087C= (p.Ser696=)
c.1694C= (p.Ser565=)
c.2156C= (p.Ser719=)
c.2090C= (p.Ser697=)
c.2048C= (p.Ser683=)
c.1121C= (p.Ser374=)
20g.63407158G>TCA409638978KCNQ2c.2159C>A (p.Ser720Ter)
c.2105C>A (p.Ser702Ter)
c.1502C>A (p.Ser501Ter)
c.2012C>A (p.Ser671Ter)
c.1673C>A (p.Ser558Ter)
c.2021C>A (p.Ser674Ter)
c.2129C>A (p.Ser710Ter)
c.2093C>A (p.Ser698Ter)
c.2051C>A (p.Ser684Ter)
c.1679+6292C>A (n.1679+6292C>A)
c.2147C>A (p.Ser716Ter)
c.2213C>A (p.Ser738Ter)
c.2210C>A (p.Ser737Ter)
c.2183C>A (p.Ser728Ter)
c.2102C>A (p.Ser701Ter)
c.2087C>A (p.Ser696Ter)
c.1694C>A (p.Ser565Ter)
c.2156C>A (p.Ser719Ter)
c.2090C>A (p.Ser697Ter)
c.2048C>A (p.Ser683Ter)
c.1121C>A (p.Ser374Ter)
 gnomAD v4
20g.63407158_63407161delinsGAGACA2374774456KCNQ2c.2156_2159delinsTCTC (p.Phe719=)
c.2102_2105delinsTCTC (p.Phe701=)
c.1499_1502delinsTCTC (p.Phe500=)
c.2009_2012delinsTCTC (p.Phe670=)
c.1670_1673delinsTCTC (p.Phe557=)
c.2018_2021delinsTCTC (p.Phe673=)
c.2126_2129delinsTCTC (p.Phe709=)
c.2090_2093delinsTCTC (p.Phe697=)
c.2048_2051delinsTCTC (p.Phe683=)
c.1679+6289_1679+6292delinsTCTC (n.1679+6289_1679+6292delinsTCTC)
c.2144_2147delinsTCTC (p.Phe715=)
c.2210_2213delinsTCTC (p.Phe737=)
c.2207_2210delinsTCTC (p.Phe736=)
c.2180_2183delinsTCTC (p.Phe727=)
c.2099_2102delinsTCTC (p.Phe700=)
c.2084_2087delinsTCTC (p.Phe695=)
c.1691_1694delinsTCTC (p.Phe564=)
c.2153_2156delinsTCTC (p.Phe718=)
c.2087_2090delinsTCTC (p.Phe696=)
c.2045_2048delinsTCTC (p.Phe682=)
c.1118_1121delinsTCTC (p.Phe373=)
20g.63407159A>CCA409638979KCNQ2c.2158T>G (p.Ser720Ala)
c.2104T>G (p.Ser702Ala)
c.1501T>G (p.Ser501Ala)
c.2011T>G (p.Ser671Ala)
c.1672T>G (p.Ser558Ala)
c.2020T>G (p.Ser674Ala)
c.2128T>G (p.Ser710Ala)
c.2092T>G (p.Ser698Ala)
c.2050T>G (p.Ser684Ala)
c.1679+6291T>G (n.1679+6291T>G)
c.2146T>G (p.Ser716Ala)
c.2212T>G (p.Ser738Ala)
c.2209T>G (p.Ser737Ala)
c.2182T>G (p.Ser728Ala)
c.2101T>G (p.Ser701Ala)
c.2086T>G (p.Ser696Ala)
c.1693T>G (p.Ser565Ala)
c.2155T>G (p.Ser719Ala)
c.2089T>G (p.Ser697Ala)
c.2047T>G (p.Ser683Ala)
c.1120T>G (p.Ser374Ala)
20g.63407159A>GCA409638980KCNQ2c.2158T>C (p.Ser720Pro)
c.2104T>C (p.Ser702Pro)
c.1501T>C (p.Ser501Pro)
c.2011T>C (p.Ser671Pro)
c.1672T>C (p.Ser558Pro)
c.2020T>C (p.Ser674Pro)
c.2128T>C (p.Ser710Pro)
c.2092T>C (p.Ser698Pro)
c.2050T>C (p.Ser684Pro)
c.1679+6291T>C (n.1679+6291T>C)
c.2146T>C (p.Ser716Pro)
c.2212T>C (p.Ser738Pro)
c.2209T>C (p.Ser737Pro)
c.2182T>C (p.Ser728Pro)
c.2101T>C (p.Ser701Pro)
c.2086T>C (p.Ser696Pro)
c.1693T>C (p.Ser565Pro)
c.2155T>C (p.Ser719Pro)
c.2089T>C (p.Ser697Pro)
c.2047T>C (p.Ser683Pro)
c.1120T>C (p.Ser374Pro)
 gnomAD v4
20g.63407159A>TCA409638981KCNQ2c.2158T>A (p.Ser720Thr)
c.2104T>A (p.Ser702Thr)
c.1501T>A (p.Ser501Thr)
c.2011T>A (p.Ser671Thr)
c.1672T>A (p.Ser558Thr)
c.2020T>A (p.Ser674Thr)
c.2128T>A (p.Ser710Thr)
c.2092T>A (p.Ser698Thr)
c.2050T>A (p.Ser684Thr)
c.1679+6291T>A (n.1679+6291T>A)
c.2146T>A (p.Ser716Thr)
c.2212T>A (p.Ser738Thr)
c.2209T>A (p.Ser737Thr)
c.2182T>A (p.Ser728Thr)
c.2101T>A (p.Ser701Thr)
c.2086T>A (p.Ser696Thr)
c.1693T>A (p.Ser565Thr)
c.2155T>A (p.Ser719Thr)
c.2089T>A (p.Ser697Thr)
c.2047T>A (p.Ser683Thr)
c.1120T>A (p.Ser374Thr)
20g.63407161_63407163delCA315553KCNQ2c.2156_2158del (p.Phe719del)
c.2102_2104del (p.Phe701del)
c.1499_1501del (p.Phe500del)
c.2009_2011del (p.Phe670del)
c.1670_1672del (p.Phe557del)
c.2018_2020del (p.Phe673del)
c.2126_2128del (p.Phe709del)
c.2090_2092del (p.Phe697del)
c.2048_2050del (p.Phe683del)
c.1679+6289_1679+6291del (n.1679+6289_1679+6291del)
c.2144_2146del (p.Phe715del)
c.2210_2212del (p.Phe737del)
c.2207_2209del (p.Phe736del)
c.2180_2182del (p.Phe727del)
c.2099_2101del (p.Phe700del)
c.2084_2086del (p.Phe695del)
c.1691_1693del (p.Phe564del)
c.2153_2155del (p.Phe718del)
c.2087_2089del (p.Phe696del)
c.2045_2047del (p.Phe682del)
c.1118_1120del (p.Phe373del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407160G>ACA9958153KCNQ2c.2157C>T (p.Phe719=)
c.2103C>T (p.Phe701=)
c.1500C>T (p.Phe500=)
c.2010C>T (p.Phe670=)
c.1671C>T (p.Phe557=)
c.2019C>T (p.Phe673=)
c.2127C>T (p.Phe709=)
c.2091C>T (p.Phe697=)
c.2049C>T (p.Phe683=)
c.1679+6290C>T (n.1679+6290C>T)
c.2145C>T (p.Phe715=)
c.2211C>T (p.Phe737=)
c.2208C>T (p.Phe736=)
c.2181C>T (p.Phe727=)
c.2100C>T (p.Phe700=)
c.2085C>T (p.Phe695=)
c.1692C>T (p.Phe564=)
c.2154C>T (p.Phe718=)
c.2088C>T (p.Phe696=)
c.2046C>T (p.Phe682=)
c.1119C>T (p.Phe373=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407160G>CCA409638983KCNQ2c.2157C>G (p.Phe719Leu)
c.2103C>G (p.Phe701Leu)
c.1500C>G (p.Phe500Leu)
c.2010C>G (p.Phe670Leu)
c.1671C>G (p.Phe557Leu)
c.2019C>G (p.Phe673Leu)
c.2127C>G (p.Phe709Leu)
c.2091C>G (p.Phe697Leu)
c.2049C>G (p.Phe683Leu)
c.1679+6290C>G (n.1679+6290C>G)
c.2145C>G (p.Phe715Leu)
c.2211C>G (p.Phe737Leu)
c.2208C>G (p.Phe736Leu)
c.2181C>G (p.Phe727Leu)
c.2100C>G (p.Phe700Leu)
c.2085C>G (p.Phe695Leu)
c.1692C>G (p.Phe564Leu)
c.2154C>G (p.Phe718Leu)
c.2088C>G (p.Phe696Leu)
c.2046C>G (p.Phe682Leu)
c.1119C>G (p.Phe373Leu)
 ClinVar dbSNP gnomAD v4
20g.63407160G=CA2374774458KCNQ2c.2157C= (p.Phe719=)
c.2103C= (p.Phe701=)
c.1500C= (p.Phe500=)
c.2010C= (p.Phe670=)
c.1671C= (p.Phe557=)
c.2019C= (p.Phe673=)
c.2127C= (p.Phe709=)
c.2091C= (p.Phe697=)
c.2049C= (p.Phe683=)
c.1679+6290C= (n.1679+6290C=)
c.2145C= (p.Phe715=)
c.2211C= (p.Phe737=)
c.2208C= (p.Phe736=)
c.2181C= (p.Phe727=)
c.2100C= (p.Phe700=)
c.2085C= (p.Phe695=)
c.1692C= (p.Phe564=)
c.2154C= (p.Phe718=)
c.2088C= (p.Phe696=)
c.2046C= (p.Phe682=)
c.1119C= (p.Phe373=)
20g.63407160G>TCA409638982KCNQ2c.2157C>A (p.Phe719Leu)
c.2103C>A (p.Phe701Leu)
c.1500C>A (p.Phe500Leu)
c.2010C>A (p.Phe670Leu)
c.1671C>A (p.Phe557Leu)
c.2019C>A (p.Phe673Leu)
c.2127C>A (p.Phe709Leu)
c.2091C>A (p.Phe697Leu)
c.2049C>A (p.Phe683Leu)
c.1679+6290C>A (n.1679+6290C>A)
c.2145C>A (p.Phe715Leu)
c.2211C>A (p.Phe737Leu)
c.2208C>A (p.Phe736Leu)
c.2181C>A (p.Phe727Leu)
c.2100C>A (p.Phe700Leu)
c.2085C>A (p.Phe695Leu)
c.1692C>A (p.Phe564Leu)
c.2154C>A (p.Phe718Leu)
c.2088C>A (p.Phe696Leu)
c.2046C>A (p.Phe682Leu)
c.1119C>A (p.Phe373Leu)
 gnomAD v4
20g.63407161A>CCA409638984KCNQ2c.2156T>G (p.Phe719Cys)
c.2102T>G (p.Phe701Cys)
c.1499T>G (p.Phe500Cys)
c.2009T>G (p.Phe670Cys)
c.1670T>G (p.Phe557Cys)
c.2018T>G (p.Phe673Cys)
c.2126T>G (p.Phe709Cys)
c.2090T>G (p.Phe697Cys)
c.2048T>G (p.Phe683Cys)
c.1679+6289T>G (n.1679+6289T>G)
c.2144T>G (p.Phe715Cys)
c.2210T>G (p.Phe737Cys)
c.2207T>G (p.Phe736Cys)
c.2180T>G (p.Phe727Cys)
c.2099T>G (p.Phe700Cys)
c.2084T>G (p.Phe695Cys)
c.1691T>G (p.Phe564Cys)
c.2153T>G (p.Phe718Cys)
c.2087T>G (p.Phe696Cys)
c.2045T>G (p.Phe682Cys)
c.1118T>G (p.Phe373Cys)
20g.63407161A>GCA409638985KCNQ2c.2156T>C (p.Phe719Ser)
c.2102T>C (p.Phe701Ser)
c.1499T>C (p.Phe500Ser)
c.2009T>C (p.Phe670Ser)
c.1670T>C (p.Phe557Ser)
c.2018T>C (p.Phe673Ser)
c.2126T>C (p.Phe709Ser)
c.2090T>C (p.Phe697Ser)
c.2048T>C (p.Phe683Ser)
c.1679+6289T>C (n.1679+6289T>C)
c.2144T>C (p.Phe715Ser)
c.2210T>C (p.Phe737Ser)
c.2207T>C (p.Phe736Ser)
c.2180T>C (p.Phe727Ser)
c.2099T>C (p.Phe700Ser)
c.2084T>C (p.Phe695Ser)
c.1691T>C (p.Phe564Ser)
c.2153T>C (p.Phe718Ser)
c.2087T>C (p.Phe696Ser)
c.2045T>C (p.Phe682Ser)
c.1118T>C (p.Phe373Ser)
 gnomAD v4
20g.63407161A>TCA409638986KCNQ2c.2156T>A (p.Phe719Tyr)
c.2102T>A (p.Phe701Tyr)
c.1499T>A (p.Phe500Tyr)
c.2009T>A (p.Phe670Tyr)
c.1670T>A (p.Phe557Tyr)
c.2018T>A (p.Phe673Tyr)
c.2126T>A (p.Phe709Tyr)
c.2090T>A (p.Phe697Tyr)
c.2048T>A (p.Phe683Tyr)
c.1679+6289T>A (n.1679+6289T>A)
c.2144T>A (p.Phe715Tyr)
c.2210T>A (p.Phe737Tyr)
c.2207T>A (p.Phe736Tyr)
c.2180T>A (p.Phe727Tyr)
c.2099T>A (p.Phe700Tyr)
c.2084T>A (p.Phe695Tyr)
c.1691T>A (p.Phe564Tyr)
c.2153T>A (p.Phe718Tyr)
c.2087T>A (p.Phe696Tyr)
c.2045T>A (p.Phe682Tyr)
c.1118T>A (p.Phe373Tyr)
20g.63407162A>CCA409638987KCNQ2c.2155T>G (p.Phe719Val)
c.2101T>G (p.Phe701Val)
c.1498T>G (p.Phe500Val)
c.2008T>G (p.Phe670Val)
c.1669T>G (p.Phe557Val)
c.2017T>G (p.Phe673Val)
c.2125T>G (p.Phe709Val)
c.2089T>G (p.Phe697Val)
c.2047T>G (p.Phe683Val)
c.1679+6288T>G (n.1679+6288T>G)
c.2143T>G (p.Phe715Val)
c.2209T>G (p.Phe737Val)
c.2206T>G (p.Phe736Val)
c.2179T>G (p.Phe727Val)
c.2098T>G (p.Phe700Val)
c.2083T>G (p.Phe695Val)
c.1690T>G (p.Phe564Val)
c.2152T>G (p.Phe718Val)
c.2086T>G (p.Phe696Val)
c.2044T>G (p.Phe682Val)
c.1117T>G (p.Phe373Val)
20g.63407162A>GCA409638988KCNQ2c.2155T>C (p.Phe719Leu)
c.2101T>C (p.Phe701Leu)
c.1498T>C (p.Phe500Leu)
c.2008T>C (p.Phe670Leu)
c.1669T>C (p.Phe557Leu)
c.2017T>C (p.Phe673Leu)
c.2125T>C (p.Phe709Leu)
c.2089T>C (p.Phe697Leu)
c.2047T>C (p.Phe683Leu)
c.1679+6288T>C (n.1679+6288T>C)
c.2143T>C (p.Phe715Leu)
c.2209T>C (p.Phe737Leu)
c.2206T>C (p.Phe736Leu)
c.2179T>C (p.Phe727Leu)
c.2098T>C (p.Phe700Leu)
c.2083T>C (p.Phe695Leu)
c.1690T>C (p.Phe564Leu)
c.2152T>C (p.Phe718Leu)
c.2086T>C (p.Phe696Leu)
c.2044T>C (p.Phe682Leu)
c.1117T>C (p.Phe373Leu)
 gnomAD v4
20g.63407162A>TCA409638989KCNQ2c.2155T>A (p.Phe719Ile)
c.2101T>A (p.Phe701Ile)
c.1498T>A (p.Phe500Ile)
c.2008T>A (p.Phe670Ile)
c.1669T>A (p.Phe557Ile)
c.2017T>A (p.Phe673Ile)
c.2125T>A (p.Phe709Ile)
c.2089T>A (p.Phe697Ile)
c.2047T>A (p.Phe683Ile)
c.1679+6288T>A (n.1679+6288T>A)
c.2143T>A (p.Phe715Ile)
c.2209T>A (p.Phe737Ile)
c.2206T>A (p.Phe736Ile)
c.2179T>A (p.Phe727Ile)
c.2098T>A (p.Phe700Ile)
c.2083T>A (p.Phe695Ile)
c.1690T>A (p.Phe564Ile)
c.2152T>A (p.Phe718Ile)
c.2086T>A (p.Phe696Ile)
c.2044T>A (p.Phe682Ile)
c.1117T>A (p.Phe373Ile)
20g.63407163G>ACA317422307KCNQ2c.2154C>T (p.Asn718=)
c.2100C>T (p.Asn700=)
c.1497C>T (p.Asn499=)
c.2007C>T (p.Asn669=)
c.1668C>T (p.Asn556=)
c.2016C>T (p.Asn672=)
c.2124C>T (p.Asn708=)
c.2088C>T (p.Asn696=)
c.2046C>T (p.Asn682=)
c.1679+6287C>T (n.1679+6287C>T)
c.2142C>T (p.Asn714=)
c.2208C>T (p.Asn736=)
c.2205C>T (p.Asn735=)
c.2178C>T (p.Asn726=)
c.2097C>T (p.Asn699=)
c.2082C>T (p.Asn694=)
c.1689C>T (p.Asn563=)
c.2151C>T (p.Asn717=)
c.2085C>T (p.Asn695=)
c.2043C>T (p.Asn681=)
c.1116C>T (p.Asn372=)
 ClinVar dbSNP
20g.63407163G>CCA409638990KCNQ2c.2154C>G (p.Asn718Lys)
c.2100C>G (p.Asn700Lys)
c.1497C>G (p.Asn499Lys)
c.2007C>G (p.Asn669Lys)
c.1668C>G (p.Asn556Lys)
c.2016C>G (p.Asn672Lys)
c.2124C>G (p.Asn708Lys)
c.2088C>G (p.Asn696Lys)
c.2046C>G (p.Asn682Lys)
c.1679+6287C>G (n.1679+6287C>G)
c.2142C>G (p.Asn714Lys)
c.2208C>G (p.Asn736Lys)
c.2205C>G (p.Asn735Lys)
c.2178C>G (p.Asn726Lys)
c.2097C>G (p.Asn699Lys)
c.2082C>G (p.Asn694Lys)
c.1689C>G (p.Asn563Lys)
c.2151C>G (p.Asn717Lys)
c.2085C>G (p.Asn695Lys)
c.2043C>G (p.Asn681Lys)
c.1116C>G (p.Asn372Lys)
20g.63407163G=CA2374774460KCNQ2c.2154C= (p.Asn718=)
c.2100C= (p.Asn700=)
c.1497C= (p.Asn499=)
c.2007C= (p.Asn669=)
c.1668C= (p.Asn556=)
c.2016C= (p.Asn672=)
c.2124C= (p.Asn708=)
c.2088C= (p.Asn696=)
c.2046C= (p.Asn682=)
c.1679+6287C= (n.1679+6287C=)
c.2142C= (p.Asn714=)
c.2208C= (p.Asn736=)
c.2205C= (p.Asn735=)
c.2178C= (p.Asn726=)
c.2097C= (p.Asn699=)
c.2082C= (p.Asn694=)
c.1689C= (p.Asn563=)
c.2151C= (p.Asn717=)
c.2085C= (p.Asn695=)
c.2043C= (p.Asn681=)
c.1116C= (p.Asn372=)
20g.63407163G>TCA409638991KCNQ2c.2154C>A (p.Asn718Lys)
c.2100C>A (p.Asn700Lys)
c.1497C>A (p.Asn499Lys)
c.2007C>A (p.Asn669Lys)
c.1668C>A (p.Asn556Lys)
c.2016C>A (p.Asn672Lys)
c.2124C>A (p.Asn708Lys)
c.2088C>A (p.Asn696Lys)
c.2046C>A (p.Asn682Lys)
c.1679+6287C>A (n.1679+6287C>A)
c.2142C>A (p.Asn714Lys)
c.2208C>A (p.Asn736Lys)
c.2205C>A (p.Asn735Lys)
c.2178C>A (p.Asn726Lys)
c.2097C>A (p.Asn699Lys)
c.2082C>A (p.Asn694Lys)
c.1689C>A (p.Asn563Lys)
c.2151C>A (p.Asn717Lys)
c.2085C>A (p.Asn695Lys)
c.2043C>A (p.Asn681Lys)
c.1116C>A (p.Asn372Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407163_63407166delinsGTTCCA2374774459KCNQ2c.2151_2154delinsGAAC (p.Lys717=)
c.2097_2100delinsGAAC (p.Lys699=)
c.1494_1497delinsGAAC (p.Lys498=)
c.2004_2007delinsGAAC (p.Lys668=)
c.1665_1668delinsGAAC (p.Lys555=)
c.2013_2016delinsGAAC (p.Lys671=)
c.2121_2124delinsGAAC (p.Lys707=)
c.2085_2088delinsGAAC (p.Lys695=)
c.2043_2046delinsGAAC (p.Lys681=)
c.1679+6284_1679+6287delinsGAAC (n.1679+6284_1679+6287delinsGAAC)
c.2139_2142delinsGAAC (p.Lys713=)
c.2205_2208delinsGAAC (p.Lys735=)
c.2202_2205delinsGAAC (p.Lys734=)
c.2175_2178delinsGAAC (p.Lys725=)
c.2094_2097delinsGAAC (p.Lys698=)
c.2079_2082delinsGAAC (p.Lys693=)
c.1686_1689delinsGAAC (p.Lys562=)
c.2148_2151delinsGAAC (p.Lys716=)
c.2082_2085delinsGAAC (p.Lys694=)
c.2040_2043delinsGAAC (p.Lys680=)
c.1113_1116delinsGAAC (p.Lys371=)
20g.63407164T>ACA409638993KCNQ2c.2153A>T (p.Asn718Ile)
c.2099A>T (p.Asn700Ile)
c.1496A>T (p.Asn499Ile)
c.2006A>T (p.Asn669Ile)
c.1667A>T (p.Asn556Ile)
c.2015A>T (p.Asn672Ile)
c.2123A>T (p.Asn708Ile)
c.2087A>T (p.Asn696Ile)
c.2045A>T (p.Asn682Ile)
c.1679+6286A>T (n.1679+6286A>T)
c.2141A>T (p.Asn714Ile)
c.2207A>T (p.Asn736Ile)
c.2204A>T (p.Asn735Ile)
c.2177A>T (p.Asn726Ile)
c.2096A>T (p.Asn699Ile)
c.2081A>T (p.Asn694Ile)
c.1688A>T (p.Asn563Ile)
c.2150A>T (p.Asn717Ile)
c.2084A>T (p.Asn695Ile)
c.2042A>T (p.Asn681Ile)
c.1115A>T (p.Asn372Ile)
20g.63407164T>CCA409638992KCNQ2c.2153A>G (p.Asn718Ser)
c.2099A>G (p.Asn700Ser)
c.1496A>G (p.Asn499Ser)
c.2006A>G (p.Asn669Ser)
c.1667A>G (p.Asn556Ser)
c.2015A>G (p.Asn672Ser)
c.2123A>G (p.Asn708Ser)
c.2087A>G (p.Asn696Ser)
c.2045A>G (p.Asn682Ser)
c.1679+6286A>G (n.1679+6286A>G)
c.2141A>G (p.Asn714Ser)
c.2207A>G (p.Asn736Ser)
c.2204A>G (p.Asn735Ser)
c.2177A>G (p.Asn726Ser)
c.2096A>G (p.Asn699Ser)
c.2081A>G (p.Asn694Ser)
c.1688A>G (p.Asn563Ser)
c.2150A>G (p.Asn717Ser)
c.2084A>G (p.Asn695Ser)
c.2042A>G (p.Asn681Ser)
c.1115A>G (p.Asn372Ser)
 gnomAD v4
20g.63407164T>GCA409638994KCNQ2c.2153A>C (p.Asn718Thr)
c.2099A>C (p.Asn700Thr)
c.1496A>C (p.Asn499Thr)
c.2006A>C (p.Asn669Thr)
c.1667A>C (p.Asn556Thr)
c.2015A>C (p.Asn672Thr)
c.2123A>C (p.Asn708Thr)
c.2087A>C (p.Asn696Thr)
c.2045A>C (p.Asn682Thr)
c.1679+6286A>C (n.1679+6286A>C)
c.2141A>C (p.Asn714Thr)
c.2207A>C (p.Asn736Thr)
c.2204A>C (p.Asn735Thr)
c.2177A>C (p.Asn726Thr)
c.2096A>C (p.Asn699Thr)
c.2081A>C (p.Asn694Thr)
c.1688A>C (p.Asn563Thr)
c.2150A>C (p.Asn717Thr)
c.2084A>C (p.Asn695Thr)
c.2042A>C (p.Asn681Thr)
c.1115A>C (p.Asn372Thr)
20g.63407168_63407170delCA9958154KCNQ2c.2151_2153del (p.Lys717del)
c.2097_2099del (p.Lys699del)
c.1494_1496del (p.Lys498del)
c.2004_2006del (p.Lys668del)
c.1665_1667del (p.Lys555del)
c.2013_2015del (p.Lys671del)
c.2121_2123del (p.Lys707del)
c.2085_2087del (p.Lys695del)
c.2043_2045del (p.Lys681del)
c.1679+6284_1679+6286del (n.1679+6284_1679+6286del)
c.2139_2141del (p.Lys713del)
c.2205_2207del (p.Lys735del)
c.2202_2204del (p.Lys734del)
c.2175_2177del (p.Lys725del)
c.2094_2096del (p.Lys698del)
c.2079_2081del (p.Lys693del)
c.1686_1688del (p.Lys562del)
c.2148_2150del (p.Lys716del)
c.2082_2084del (p.Lys694del)
c.2040_2042del (p.Lys680del)
c.1113_1115del (p.Lys371del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407165T>ACA409638995KCNQ2c.2152A>T (p.Asn718Tyr)
c.2098A>T (p.Asn700Tyr)
c.1495A>T (p.Asn499Tyr)
c.2005A>T (p.Asn669Tyr)
c.1666A>T (p.Asn556Tyr)
c.2014A>T (p.Asn672Tyr)
c.2122A>T (p.Asn708Tyr)
c.2086A>T (p.Asn696Tyr)
c.2044A>T (p.Asn682Tyr)
c.1679+6285A>T (n.1679+6285A>T)
c.2140A>T (p.Asn714Tyr)
c.2206A>T (p.Asn736Tyr)
c.2203A>T (p.Asn735Tyr)
c.2176A>T (p.Asn726Tyr)
c.2095A>T (p.Asn699Tyr)
c.2080A>T (p.Asn694Tyr)
c.1687A>T (p.Asn563Tyr)
c.2149A>T (p.Asn717Tyr)
c.2083A>T (p.Asn695Tyr)
c.2041A>T (p.Asn681Tyr)
c.1114A>T (p.Asn372Tyr)
20g.63407165T>CCA409638996KCNQ2c.2152A>G (p.Asn718Asp)
c.2098A>G (p.Asn700Asp)
c.1495A>G (p.Asn499Asp)
c.2005A>G (p.Asn669Asp)
c.1666A>G (p.Asn556Asp)
c.2014A>G (p.Asn672Asp)
c.2122A>G (p.Asn708Asp)
c.2086A>G (p.Asn696Asp)
c.2044A>G (p.Asn682Asp)
c.1679+6285A>G (n.1679+6285A>G)
c.2140A>G (p.Asn714Asp)
c.2206A>G (p.Asn736Asp)
c.2203A>G (p.Asn735Asp)
c.2176A>G (p.Asn726Asp)
c.2095A>G (p.Asn699Asp)
c.2080A>G (p.Asn694Asp)
c.1687A>G (p.Asn563Asp)
c.2149A>G (p.Asn717Asp)
c.2083A>G (p.Asn695Asp)
c.2041A>G (p.Asn681Asp)
c.1114A>G (p.Asn372Asp)
 gnomAD v4
20g.63407165T>GCA409638997KCNQ2c.2152A>C (p.Asn718His)
c.2098A>C (p.Asn700His)
c.1495A>C (p.Asn499His)
c.2005A>C (p.Asn669His)
c.1666A>C (p.Asn556His)
c.2014A>C (p.Asn672His)
c.2122A>C (p.Asn708His)
c.2086A>C (p.Asn696His)
c.2044A>C (p.Asn682His)
c.1679+6285A>C (n.1679+6285A>C)
c.2140A>C (p.Asn714His)
c.2206A>C (p.Asn736His)
c.2203A>C (p.Asn735His)
c.2176A>C (p.Asn726His)
c.2095A>C (p.Asn699His)
c.2080A>C (p.Asn694His)
c.1687A>C (p.Asn563His)
c.2149A>C (p.Asn717His)
c.2083A>C (p.Asn695His)
c.2041A>C (p.Asn681His)
c.1114A>C (p.Asn372His)
20g.63407166C>ACA409638998KCNQ2c.2151G>T (p.Lys717Asn)
c.2097G>T (p.Lys699Asn)
c.1494G>T (p.Lys498Asn)
c.2004G>T (p.Lys668Asn)
c.1665G>T (p.Lys555Asn)
c.2013G>T (p.Lys671Asn)
c.2121G>T (p.Lys707Asn)
c.2085G>T (p.Lys695Asn)
c.2043G>T (p.Lys681Asn)
c.1679+6284G>T (n.1679+6284G>T)
c.2139G>T (p.Lys713Asn)
c.2205G>T (p.Lys735Asn)
c.2202G>T (p.Lys734Asn)
c.2175G>T (p.Lys725Asn)
c.2094G>T (p.Lys698Asn)
c.2079G>T (p.Lys693Asn)
c.1686G>T (p.Lys562Asn)
c.2148G>T (p.Lys716Asn)
c.2082G>T (p.Lys694Asn)
c.2040G>T (p.Lys680Asn)
c.1113G>T (p.Lys371Asn)
 gnomAD v4 COSMIC
20g.63407166C>GCA409638999KCNQ2c.2151G>C (p.Lys717Asn)
c.2097G>C (p.Lys699Asn)
c.1494G>C (p.Lys498Asn)
c.2004G>C (p.Lys668Asn)
c.1665G>C (p.Lys555Asn)
c.2013G>C (p.Lys671Asn)
c.2121G>C (p.Lys707Asn)
c.2085G>C (p.Lys695Asn)
c.2043G>C (p.Lys681Asn)
c.1679+6284G>C (n.1679+6284G>C)
c.2139G>C (p.Lys713Asn)
c.2205G>C (p.Lys735Asn)
c.2202G>C (p.Lys734Asn)
c.2175G>C (p.Lys725Asn)
c.2094G>C (p.Lys698Asn)
c.2079G>C (p.Lys693Asn)
c.1686G>C (p.Lys562Asn)
c.2148G>C (p.Lys716Asn)
c.2082G>C (p.Lys694Asn)
c.2040G>C (p.Lys680Asn)
c.1113G>C (p.Lys371Asn)
20g.63407166C>TCA511339334KCNQ2c.2151G>A (p.Lys717=)
c.2097G>A (p.Lys699=)
c.1494G>A (p.Lys498=)
c.2004G>A (p.Lys668=)
c.1665G>A (p.Lys555=)
c.2013G>A (p.Lys671=)
c.2121G>A (p.Lys707=)
c.2085G>A (p.Lys695=)
c.2043G>A (p.Lys681=)
c.1679+6284G>A (n.1679+6284G>A)
c.2139G>A (p.Lys713=)
c.2205G>A (p.Lys735=)
c.2202G>A (p.Lys734=)
c.2175G>A (p.Lys725=)
c.2094G>A (p.Lys698=)
c.2079G>A (p.Lys693=)
c.1686G>A (p.Lys562=)
c.2148G>A (p.Lys716=)
c.2082G>A (p.Lys694=)
c.2040G>A (p.Lys680=)
c.1113G>A (p.Lys371=)
 COSMIC COSMIC COSMIC
20g.63407167T>ACA409639002KCNQ2c.2150A>T (p.Lys717Met)
c.2096A>T (p.Lys699Met)
c.1493A>T (p.Lys498Met)
c.2003A>T (p.Lys668Met)
c.1664A>T (p.Lys555Met)
c.2012A>T (p.Lys671Met)
c.2120A>T (p.Lys707Met)
c.2084A>T (p.Lys695Met)
c.2042A>T (p.Lys681Met)
c.1679+6283A>T (n.1679+6283A>T)
c.2138A>T (p.Lys713Met)
c.2204A>T (p.Lys735Met)
c.2201A>T (p.Lys734Met)
c.2174A>T (p.Lys725Met)
c.2093A>T (p.Lys698Met)
c.2078A>T (p.Lys693Met)
c.1685A>T (p.Lys562Met)
c.2147A>T (p.Lys716Met)
c.2081A>T (p.Lys694Met)
c.2039A>T (p.Lys680Met)
c.1112A>T (p.Lys371Met)
20g.63407167T>CCA409639001KCNQ2c.2150A>G (p.Lys717Arg)
c.2096A>G (p.Lys699Arg)
c.1493A>G (p.Lys498Arg)
c.2003A>G (p.Lys668Arg)
c.1664A>G (p.Lys555Arg)
c.2012A>G (p.Lys671Arg)
c.2120A>G (p.Lys707Arg)
c.2084A>G (p.Lys695Arg)
c.2042A>G (p.Lys681Arg)
c.1679+6283A>G (n.1679+6283A>G)
c.2138A>G (p.Lys713Arg)
c.2204A>G (p.Lys735Arg)
c.2201A>G (p.Lys734Arg)
c.2174A>G (p.Lys725Arg)
c.2093A>G (p.Lys698Arg)
c.2078A>G (p.Lys693Arg)
c.1685A>G (p.Lys562Arg)
c.2147A>G (p.Lys716Arg)
c.2081A>G (p.Lys694Arg)
c.2039A>G (p.Lys680Arg)
c.1112A>G (p.Lys371Arg)
 gnomAD v4
20g.63407167T>GCA409639000KCNQ2c.2150A>C (p.Lys717Thr)
c.2096A>C (p.Lys699Thr)
c.1493A>C (p.Lys498Thr)
c.2003A>C (p.Lys668Thr)
c.1664A>C (p.Lys555Thr)
c.2012A>C (p.Lys671Thr)
c.2120A>C (p.Lys707Thr)
c.2084A>C (p.Lys695Thr)
c.2042A>C (p.Lys681Thr)
c.1679+6283A>C (n.1679+6283A>C)
c.2138A>C (p.Lys713Thr)
c.2204A>C (p.Lys735Thr)
c.2201A>C (p.Lys734Thr)
c.2174A>C (p.Lys725Thr)
c.2093A>C (p.Lys698Thr)
c.2078A>C (p.Lys693Thr)
c.1685A>C (p.Lys562Thr)
c.2147A>C (p.Lys716Thr)
c.2081A>C (p.Lys694Thr)
c.2039A>C (p.Lys680Thr)
c.1112A>C (p.Lys371Thr)
20g.63407168T>ACA409639003KCNQ2c.2149A>T (p.Lys717Ter)
c.2095A>T (p.Lys699Ter)
c.1492A>T (p.Lys498Ter)
c.2002A>T (p.Lys668Ter)
c.1663A>T (p.Lys555Ter)
c.2011A>T (p.Lys671Ter)
c.2119A>T (p.Lys707Ter)
c.2083A>T (p.Lys695Ter)
c.2041A>T (p.Lys681Ter)
c.1679+6282A>T (n.1679+6282A>T)
c.2137A>T (p.Lys713Ter)
c.2203A>T (p.Lys735Ter)
c.2200A>T (p.Lys734Ter)
c.2173A>T (p.Lys725Ter)
c.2092A>T (p.Lys698Ter)
c.2077A>T (p.Lys693Ter)
c.1684A>T (p.Lys562Ter)
c.2146A>T (p.Lys716Ter)
c.2080A>T (p.Lys694Ter)
c.2038A>T (p.Lys680Ter)
c.1111A>T (p.Lys371Ter)
20g.63407168T>CCA409639004KCNQ2c.2149A>G (p.Lys717Glu)
c.2095A>G (p.Lys699Glu)
c.1492A>G (p.Lys498Glu)
c.2002A>G (p.Lys668Glu)
c.1663A>G (p.Lys555Glu)
c.2011A>G (p.Lys671Glu)
c.2119A>G (p.Lys707Glu)
c.2083A>G (p.Lys695Glu)
c.2041A>G (p.Lys681Glu)
c.1679+6282A>G (n.1679+6282A>G)
c.2137A>G (p.Lys713Glu)
c.2203A>G (p.Lys735Glu)
c.2200A>G (p.Lys734Glu)
c.2173A>G (p.Lys725Glu)
c.2092A>G (p.Lys698Glu)
c.2077A>G (p.Lys693Glu)
c.1684A>G (p.Lys562Glu)
c.2146A>G (p.Lys716Glu)
c.2080A>G (p.Lys694Glu)
c.2038A>G (p.Lys680Glu)
c.1111A>G (p.Lys371Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407168T>GCA409639005KCNQ2c.2149A>C (p.Lys717Gln)
c.2095A>C (p.Lys699Gln)
c.1492A>C (p.Lys498Gln)
c.2002A>C (p.Lys668Gln)
c.1663A>C (p.Lys555Gln)
c.2011A>C (p.Lys671Gln)
c.2119A>C (p.Lys707Gln)
c.2083A>C (p.Lys695Gln)
c.2041A>C (p.Lys681Gln)
c.1679+6282A>C (n.1679+6282A>C)
c.2137A>C (p.Lys713Gln)
c.2203A>C (p.Lys735Gln)
c.2200A>C (p.Lys734Gln)
c.2173A>C (p.Lys725Gln)
c.2092A>C (p.Lys698Gln)
c.2077A>C (p.Lys693Gln)
c.1684A>C (p.Lys562Gln)
c.2146A>C (p.Lys716Gln)
c.2080A>C (p.Lys694Gln)
c.2038A>C (p.Lys680Gln)
c.1111A>C (p.Lys371Gln)
20g.63407168T=CA2374774461KCNQ2c.2149A= (p.Lys717=)
c.2095A= (p.Lys699=)
c.1492A= (p.Lys498=)
c.2002A= (p.Lys668=)
c.1663A= (p.Lys555=)
c.2011A= (p.Lys671=)
c.2119A= (p.Lys707=)
c.2083A= (p.Lys695=)
c.2041A= (p.Lys681=)
c.1679+6282A= (n.1679+6282A=)
c.2137A= (p.Lys713=)
c.2203A= (p.Lys735=)
c.2200A= (p.Lys734=)
c.2173A= (p.Lys725=)
c.2092A= (p.Lys698=)
c.2077A= (p.Lys693=)
c.1684A= (p.Lys562=)
c.2146A= (p.Lys716=)
c.2080A= (p.Lys694=)
c.2038A= (p.Lys680=)
c.1111A= (p.Lys371=)
20g.63407169C>ACA409639006KCNQ2c.2148G>T (p.Gln716His)
c.2094G>T (p.Gln698His)
c.1491G>T (p.Gln497His)
c.2001G>T (p.Gln667His)
c.1662G>T (p.Gln554His)
c.2010G>T (p.Gln670His)
c.2118G>T (p.Gln706His)
c.2082G>T (p.Gln694His)
c.2040G>T (p.Gln680His)
c.1679+6281G>T (n.1679+6281G>T)
c.2136G>T (p.Gln712His)
c.2202G>T (p.Gln734His)
c.2199G>T (p.Gln733His)
c.2172G>T (p.Gln724His)
c.2091G>T (p.Gln697His)
c.2076G>T (p.Gln692His)
c.1683G>T (p.Gln561His)
c.2145G>T (p.Gln715His)
c.2079G>T (p.Gln693His)
c.2037G>T (p.Gln679His)
c.1110G>T (p.Gln370His)
 gnomAD v4
20g.63407169C>GCA409639007KCNQ2c.2148G>C (p.Gln716His)
c.2094G>C (p.Gln698His)
c.1491G>C (p.Gln497His)
c.2001G>C (p.Gln667His)
c.1662G>C (p.Gln554His)
c.2010G>C (p.Gln670His)
c.2118G>C (p.Gln706His)
c.2082G>C (p.Gln694His)
c.2040G>C (p.Gln680His)
c.1679+6281G>C (n.1679+6281G>C)
c.2136G>C (p.Gln712His)
c.2202G>C (p.Gln734His)
c.2199G>C (p.Gln733His)
c.2172G>C (p.Gln724His)
c.2091G>C (p.Gln697His)
c.2076G>C (p.Gln692His)
c.1683G>C (p.Gln561His)
c.2145G>C (p.Gln715His)
c.2079G>C (p.Gln693His)
c.2037G>C (p.Gln679His)
c.1110G>C (p.Gln370His)
20g.63407169C>TCA511339338KCNQ2c.2148G>A (p.Gln716=)
c.2094G>A (p.Gln698=)
c.1491G>A (p.Gln497=)
c.2001G>A (p.Gln667=)
c.1662G>A (p.Gln554=)
c.2010G>A (p.Gln670=)
c.2118G>A (p.Gln706=)
c.2082G>A (p.Gln694=)
c.2040G>A (p.Gln680=)
c.1679+6281G>A (n.1679+6281G>A)
c.2136G>A (p.Gln712=)
c.2202G>A (p.Gln734=)
c.2199G>A (p.Gln733=)
c.2172G>A (p.Gln724=)
c.2091G>A (p.Gln697=)
c.2076G>A (p.Gln692=)
c.1683G>A (p.Gln561=)
c.2145G>A (p.Gln715=)
c.2079G>A (p.Gln693=)
c.2037G>A (p.Gln679=)
c.1110G>A (p.Gln370=)
20g.63407170T>ACA409639008KCNQ2c.2147A>T (p.Gln716Leu)
c.2093A>T (p.Gln698Leu)
c.1490A>T (p.Gln497Leu)
c.2000A>T (p.Gln667Leu)
c.1661A>T (p.Gln554Leu)
c.2009A>T (p.Gln670Leu)
c.2117A>T (p.Gln706Leu)
c.2081A>T (p.Gln694Leu)
c.2039A>T (p.Gln680Leu)
c.1679+6280A>T (n.1679+6280A>T)
c.2135A>T (p.Gln712Leu)
c.2201A>T (p.Gln734Leu)
c.2198A>T (p.Gln733Leu)
c.2171A>T (p.Gln724Leu)
c.2090A>T (p.Gln697Leu)
c.2075A>T (p.Gln692Leu)
c.1682A>T (p.Gln561Leu)
c.2144A>T (p.Gln715Leu)
c.2078A>T (p.Gln693Leu)
c.2036A>T (p.Gln679Leu)
c.1109A>T (p.Gln370Leu)
 gnomAD v4
20g.63407170T>CCA409639009KCNQ2c.2147A>G (p.Gln716Arg)
c.2093A>G (p.Gln698Arg)
c.1490A>G (p.Gln497Arg)
c.2000A>G (p.Gln667Arg)
c.1661A>G (p.Gln554Arg)
c.2009A>G (p.Gln670Arg)
c.2117A>G (p.Gln706Arg)
c.2081A>G (p.Gln694Arg)
c.2039A>G (p.Gln680Arg)
c.1679+6280A>G (n.1679+6280A>G)
c.2135A>G (p.Gln712Arg)
c.2201A>G (p.Gln734Arg)
c.2198A>G (p.Gln733Arg)
c.2171A>G (p.Gln724Arg)
c.2090A>G (p.Gln697Arg)
c.2075A>G (p.Gln692Arg)
c.1682A>G (p.Gln561Arg)
c.2144A>G (p.Gln715Arg)
c.2078A>G (p.Gln693Arg)
c.2036A>G (p.Gln679Arg)
c.1109A>G (p.Gln370Arg)
 gnomAD v4
20g.63407170T>GCA409639010KCNQ2c.2147A>C (p.Gln716Pro)
c.2093A>C (p.Gln698Pro)
c.1490A>C (p.Gln497Pro)
c.2000A>C (p.Gln667Pro)
c.1661A>C (p.Gln554Pro)
c.2009A>C (p.Gln670Pro)
c.2117A>C (p.Gln706Pro)
c.2081A>C (p.Gln694Pro)
c.2039A>C (p.Gln680Pro)
c.1679+6280A>C (n.1679+6280A>C)
c.2135A>C (p.Gln712Pro)
c.2201A>C (p.Gln734Pro)
c.2198A>C (p.Gln733Pro)
c.2171A>C (p.Gln724Pro)
c.2090A>C (p.Gln697Pro)
c.2075A>C (p.Gln692Pro)
c.1682A>C (p.Gln561Pro)
c.2144A>C (p.Gln715Pro)
c.2078A>C (p.Gln693Pro)
c.2036A>C (p.Gln679Pro)
c.1109A>C (p.Gln370Pro)
20g.63407171G>ACA409639011KCNQ2c.2146C>T (p.Gln716Ter)
c.2092C>T (p.Gln698Ter)
c.1489C>T (p.Gln497Ter)
c.1999C>T (p.Gln667Ter)
c.1660C>T (p.Gln554Ter)
c.2008C>T (p.Gln670Ter)
c.2116C>T (p.Gln706Ter)
c.2080C>T (p.Gln694Ter)
c.2038C>T (p.Gln680Ter)
c.1679+6279C>T (n.1679+6279C>T)
c.2134C>T (p.Gln712Ter)
c.2200C>T (p.Gln734Ter)
c.2197C>T (p.Gln733Ter)
c.2170C>T (p.Gln724Ter)
c.2089C>T (p.Gln697Ter)
c.2074C>T (p.Gln692Ter)
c.1681C>T (p.Gln561Ter)
c.2143C>T (p.Gln715Ter)
c.2077C>T (p.Gln693Ter)
c.2035C>T (p.Gln679Ter)
c.1108C>T (p.Gln370Ter)
 ClinVar dbSNP gnomAD v4
20g.63407171G>CCA409639013KCNQ2c.2146C>G (p.Gln716Glu)
c.2092C>G (p.Gln698Glu)
c.1489C>G (p.Gln497Glu)
c.1999C>G (p.Gln667Glu)
c.1660C>G (p.Gln554Glu)
c.2008C>G (p.Gln670Glu)
c.2116C>G (p.Gln706Glu)
c.2080C>G (p.Gln694Glu)
c.2038C>G (p.Gln680Glu)
c.1679+6279C>G (n.1679+6279C>G)
c.2134C>G (p.Gln712Glu)
c.2200C>G (p.Gln734Glu)
c.2197C>G (p.Gln733Glu)
c.2170C>G (p.Gln724Glu)
c.2089C>G (p.Gln697Glu)
c.2074C>G (p.Gln692Glu)
c.1681C>G (p.Gln561Glu)
c.2143C>G (p.Gln715Glu)
c.2077C>G (p.Gln693Glu)
c.2035C>G (p.Gln679Glu)
c.1108C>G (p.Gln370Glu)
20g.63407171G=CA2374774462KCNQ2c.2146C= (p.Gln716=)
c.2092C= (p.Gln698=)
c.1489C= (p.Gln497=)
c.1999C= (p.Gln667=)
c.1660C= (p.Gln554=)
c.2008C= (p.Gln670=)
c.2116C= (p.Gln706=)
c.2080C= (p.Gln694=)
c.2038C= (p.Gln680=)
c.1679+6279C= (n.1679+6279C=)
c.2134C= (p.Gln712=)
c.2200C= (p.Gln734=)
c.2197C= (p.Gln733=)
c.2170C= (p.Gln724=)
c.2089C= (p.Gln697=)
c.2074C= (p.Gln692=)
c.1681C= (p.Gln561=)
c.2143C= (p.Gln715=)
c.2077C= (p.Gln693=)
c.2035C= (p.Gln679=)
c.1108C= (p.Gln370=)
20g.63407171G>TCA409639012KCNQ2c.2146C>A (p.Gln716Lys)
c.2092C>A (p.Gln698Lys)
c.1489C>A (p.Gln497Lys)
c.1999C>A (p.Gln667Lys)
c.1660C>A (p.Gln554Lys)
c.2008C>A (p.Gln670Lys)
c.2116C>A (p.Gln706Lys)
c.2080C>A (p.Gln694Lys)
c.2038C>A (p.Gln680Lys)
c.1679+6279C>A (n.1679+6279C>A)
c.2134C>A (p.Gln712Lys)
c.2200C>A (p.Gln734Lys)
c.2197C>A (p.Gln733Lys)
c.2170C>A (p.Gln724Lys)
c.2089C>A (p.Gln697Lys)
c.2074C>A (p.Gln692Lys)
c.1681C>A (p.Gln561Lys)
c.2143C>A (p.Gln715Lys)
c.2077C>A (p.Gln693Lys)
c.2035C>A (p.Gln679Lys)
c.1108C>A (p.Gln370Lys)
 gnomAD v4
20g.63407172G>ACA511339342KCNQ2c.2145C>T (p.Gly715=)
c.2091C>T (p.Gly697=)
c.1488C>T (p.Gly496=)
c.1998C>T (p.Gly666=)
c.1659C>T (p.Gly553=)
c.2007C>T (p.Gly669=)
c.2115C>T (p.Gly705=)
c.2079C>T (p.Gly693=)
c.2037C>T (p.Gly679=)
c.1679+6278C>T (n.1679+6278C>T)
c.2133C>T (p.Gly711=)
c.2199C>T (p.Gly733=)
c.2196C>T (p.Gly732=)
c.2169C>T (p.Gly723=)
c.2088C>T (p.Gly696=)
c.2073C>T (p.Gly691=)
c.1680C>T (p.Gly560=)
c.2142C>T (p.Gly714=)
c.2076C>T (p.Gly692=)
c.2034C>T (p.Gly678=)
c.1107C>T (p.Gly369=)
 dbSNP gnomAD v4
20g.63407172G>CCA511339343KCNQ2c.2145C>G (p.Gly715=)
c.2091C>G (p.Gly697=)
c.1488C>G (p.Gly496=)
c.1998C>G (p.Gly666=)
c.1659C>G (p.Gly553=)
c.2007C>G (p.Gly669=)
c.2115C>G (p.Gly705=)
c.2079C>G (p.Gly693=)
c.2037C>G (p.Gly679=)
c.1679+6278C>G (n.1679+6278C>G)
c.2133C>G (p.Gly711=)
c.2199C>G (p.Gly733=)
c.2196C>G (p.Gly732=)
c.2169C>G (p.Gly723=)
c.2088C>G (p.Gly696=)
c.2073C>G (p.Gly691=)
c.1680C>G (p.Gly560=)
c.2142C>G (p.Gly714=)
c.2076C>G (p.Gly692=)
c.2034C>G (p.Gly678=)
c.1107C>G (p.Gly369=)
20g.63407172G=CA2374774463KCNQ2c.2145C= (p.Gly715=)
c.2091C= (p.Gly697=)
c.1488C= (p.Gly496=)
c.1998C= (p.Gly666=)
c.1659C= (p.Gly553=)
c.2007C= (p.Gly669=)
c.2115C= (p.Gly705=)
c.2079C= (p.Gly693=)
c.2037C= (p.Gly679=)
c.1679+6278C= (n.1679+6278C=)
c.2133C= (p.Gly711=)
c.2199C= (p.Gly733=)
c.2196C= (p.Gly732=)
c.2169C= (p.Gly723=)
c.2088C= (p.Gly696=)
c.2073C= (p.Gly691=)
c.1680C= (p.Gly560=)
c.2142C= (p.Gly714=)
c.2076C= (p.Gly692=)
c.2034C= (p.Gly678=)
c.1107C= (p.Gly369=)
20g.63407172G>TCA511339345KCNQ2c.2145C>A (p.Gly715=)
c.2091C>A (p.Gly697=)
c.1488C>A (p.Gly496=)
c.1998C>A (p.Gly666=)
c.1659C>A (p.Gly553=)
c.2007C>A (p.Gly669=)
c.2115C>A (p.Gly705=)
c.2079C>A (p.Gly693=)
c.2037C>A (p.Gly679=)
c.1679+6278C>A (n.1679+6278C>A)
c.2133C>A (p.Gly711=)
c.2199C>A (p.Gly733=)
c.2196C>A (p.Gly732=)
c.2169C>A (p.Gly723=)
c.2088C>A (p.Gly696=)
c.2073C>A (p.Gly691=)
c.1680C>A (p.Gly560=)
c.2142C>A (p.Gly714=)
c.2076C>A (p.Gly692=)
c.2034C>A (p.Gly678=)
c.1107C>A (p.Gly369=)
 gnomAD v4
20g.63407173C>ACA409639014KCNQ2c.2144G>T (p.Gly715Val)
c.2090G>T (p.Gly697Val)
c.1487G>T (p.Gly496Val)
c.1997G>T (p.Gly666Val)
c.1658G>T (p.Gly553Val)
c.2006G>T (p.Gly669Val)
c.2114G>T (p.Gly705Val)
c.2078G>T (p.Gly693Val)
c.2036G>T (p.Gly679Val)
c.1679+6277G>T (n.1679+6277G>T)
c.2132G>T (p.Gly711Val)
c.2198G>T (p.Gly733Val)
c.2195G>T (p.Gly732Val)
c.2168G>T (p.Gly723Val)
c.2087G>T (p.Gly696Val)
c.2072G>T (p.Gly691Val)
c.1679G>T (p.Gly560Val)
c.2141G>T (p.Gly714Val)
c.2075G>T (p.Gly692Val)
c.2033G>T (p.Gly678Val)
c.1106G>T (p.Gly369Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407173C=CA2374774464KCNQ2c.2144G= (p.Gly715=)
c.2090G= (p.Gly697=)
c.1487G= (p.Gly496=)
c.1997G= (p.Gly666=)
c.1658G= (p.Gly553=)
c.2006G= (p.Gly669=)
c.2114G= (p.Gly705=)
c.2078G= (p.Gly693=)
c.2036G= (p.Gly679=)
c.1679+6277G= (n.1679+6277G=)
c.2132G= (p.Gly711=)
c.2198G= (p.Gly733=)
c.2195G= (p.Gly732=)
c.2168G= (p.Gly723=)
c.2087G= (p.Gly696=)
c.2072G= (p.Gly691=)
c.1679G= (p.Gly560=)
c.2141G= (p.Gly714=)
c.2075G= (p.Gly692=)
c.2033G= (p.Gly678=)
c.1106G= (p.Gly369=)
20g.63407173C>GCA409639015KCNQ2c.2144G>C (p.Gly715Ala)
c.2090G>C (p.Gly697Ala)
c.1487G>C (p.Gly496Ala)
c.1997G>C (p.Gly666Ala)
c.1658G>C (p.Gly553Ala)
c.2006G>C (p.Gly669Ala)
c.2114G>C (p.Gly705Ala)
c.2078G>C (p.Gly693Ala)
c.2036G>C (p.Gly679Ala)
c.1679+6277G>C (n.1679+6277G>C)
c.2132G>C (p.Gly711Ala)
c.2198G>C (p.Gly733Ala)
c.2195G>C (p.Gly732Ala)
c.2168G>C (p.Gly723Ala)
c.2087G>C (p.Gly696Ala)
c.2072G>C (p.Gly691Ala)
c.1679G>C (p.Gly560Ala)
c.2141G>C (p.Gly714Ala)
c.2075G>C (p.Gly692Ala)
c.2033G>C (p.Gly678Ala)
c.1106G>C (p.Gly369Ala)
20g.63407173C>TCA409639016KCNQ2c.2144G>A (p.Gly715Asp)
c.2090G>A (p.Gly697Asp)
c.1487G>A (p.Gly496Asp)
c.1997G>A (p.Gly666Asp)
c.1658G>A (p.Gly553Asp)
c.2006G>A (p.Gly669Asp)
c.2114G>A (p.Gly705Asp)
c.2078G>A (p.Gly693Asp)
c.2036G>A (p.Gly679Asp)
c.1679+6277G>A (n.1679+6277G>A)
c.2132G>A (p.Gly711Asp)
c.2198G>A (p.Gly733Asp)
c.2195G>A (p.Gly732Asp)
c.2168G>A (p.Gly723Asp)
c.2087G>A (p.Gly696Asp)
c.2072G>A (p.Gly691Asp)
c.1679G>A (p.Gly560Asp)
c.2141G>A (p.Gly714Asp)
c.2075G>A (p.Gly692Asp)
c.2033G>A (p.Gly678Asp)
c.1106G>A (p.Gly369Asp)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.63407175delCA2653805855KCNQ2c.2144del (p.Gly715AlafsTer?)
c.2090del (p.Gly697AlafsTer?)
c.1487del (p.Gly496AlafsTer?)
c.1997del (p.Gly666AlafsTer?)
c.1658del (p.Gly553AlafsTer?)
c.2006del (p.Gly669AlafsTer?)
c.2114del (p.Gly705AlafsTer?)
c.2078del (p.Gly693AlafsTer?)
c.2036del (p.Gly679AlafsTer?)
c.1679+6277del (n.1679+6277del)
c.2132del (p.Gly711AlafsTer?)
c.2198del (p.Gly733AlafsTer?)
c.2195del (p.Gly732AlafsTer?)
c.2168del (p.Gly723AlafsTer?)
c.2087del (p.Gly696AlafsTer?)
c.2072del (p.Gly691AlafsTer?)
c.1679del (p.Gly560AlafsTer?)
c.2141del (p.Gly714AlafsTer?)
c.2075del (p.Gly692AlafsTer?)
c.2033del (p.Gly678AlafsTer?)
c.1106del (p.Gly369AlafsTer?)
 gnomAD v4
20g.63407174C>ACA409639017KCNQ2c.2143G>T (p.Gly715Cys)
c.2089G>T (p.Gly697Cys)
c.1486G>T (p.Gly496Cys)
c.1996G>T (p.Gly666Cys)
c.1657G>T (p.Gly553Cys)
c.2005G>T (p.Gly669Cys)
c.2113G>T (p.Gly705Cys)
c.2077G>T (p.Gly693Cys)
c.2035G>T (p.Gly679Cys)
c.1679+6276G>T (n.1679+6276G>T)
c.2131G>T (p.Gly711Cys)
c.2197G>T (p.Gly733Cys)
c.2194G>T (p.Gly732Cys)
c.2167G>T (p.Gly723Cys)
c.2086G>T (p.Gly696Cys)
c.2071G>T (p.Gly691Cys)
c.1678G>T (p.Gly560Cys)
c.2140G>T (p.Gly714Cys)
c.2074G>T (p.Gly692Cys)
c.2032G>T (p.Gly678Cys)
c.1105G>T (p.Gly369Cys)
 gnomAD v4
20g.63407174C=CA2374774465KCNQ2c.2143G= (p.Gly715=)
c.2089G= (p.Gly697=)
c.1486G= (p.Gly496=)
c.1996G= (p.Gly666=)
c.1657G= (p.Gly553=)
c.2005G= (p.Gly669=)
c.2113G= (p.Gly705=)
c.2077G= (p.Gly693=)
c.2035G= (p.Gly679=)
c.1679+6276G= (n.1679+6276G=)
c.2131G= (p.Gly711=)
c.2197G= (p.Gly733=)
c.2194G= (p.Gly732=)
c.2167G= (p.Gly723=)
c.2086G= (p.Gly696=)
c.2071G= (p.Gly691=)
c.1678G= (p.Gly560=)
c.2140G= (p.Gly714=)
c.2074G= (p.Gly692=)
c.2032G= (p.Gly678=)
c.1105G= (p.Gly369=)
20g.63407174C>GCA409639018KCNQ2c.2143G>C (p.Gly715Arg)
c.2089G>C (p.Gly697Arg)
c.1486G>C (p.Gly496Arg)
c.1996G>C (p.Gly666Arg)
c.1657G>C (p.Gly553Arg)
c.2005G>C (p.Gly669Arg)
c.2113G>C (p.Gly705Arg)
c.2077G>C (p.Gly693Arg)
c.2035G>C (p.Gly679Arg)
c.1679+6276G>C (n.1679+6276G>C)
c.2131G>C (p.Gly711Arg)
c.2197G>C (p.Gly733Arg)
c.2194G>C (p.Gly732Arg)
c.2167G>C (p.Gly723Arg)
c.2086G>C (p.Gly696Arg)
c.2071G>C (p.Gly691Arg)
c.1678G>C (p.Gly560Arg)
c.2140G>C (p.Gly714Arg)
c.2074G>C (p.Gly692Arg)
c.2032G>C (p.Gly678Arg)
c.1105G>C (p.Gly369Arg)
20g.63407174C>TCA409639019KCNQ2c.2143G>A (p.Gly715Ser)
c.2089G>A (p.Gly697Ser)
c.1486G>A (p.Gly496Ser)
c.1996G>A (p.Gly666Ser)
c.1657G>A (p.Gly553Ser)
c.2005G>A (p.Gly669Ser)
c.2113G>A (p.Gly705Ser)
c.2077G>A (p.Gly693Ser)
c.2035G>A (p.Gly679Ser)
c.1679+6276G>A (n.1679+6276G>A)
c.2131G>A (p.Gly711Ser)
c.2197G>A (p.Gly733Ser)
c.2194G>A (p.Gly732Ser)
c.2167G>A (p.Gly723Ser)
c.2086G>A (p.Gly696Ser)
c.2071G>A (p.Gly691Ser)
c.1678G>A (p.Gly560Ser)
c.2140G>A (p.Gly714Ser)
c.2074G>A (p.Gly692Ser)
c.2032G>A (p.Gly678Ser)
c.1105G>A (p.Gly369Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407175C>ACA511339348KCNQ2c.2142G>T (p.Thr714=)
c.2088G>T (p.Thr696=)
c.1485G>T (p.Thr495=)
c.1995G>T (p.Thr665=)
c.1656G>T (p.Thr552=)
c.2004G>T (p.Thr668=)
c.2112G>T (p.Thr704=)
c.2076G>T (p.Thr692=)
c.2034G>T (p.Thr678=)
c.1679+6275G>T (n.1679+6275G>T)
c.2130G>T (p.Thr710=)
c.2196G>T (p.Thr732=)
c.2193G>T (p.Thr731=)
c.2166G>T (p.Thr722=)
c.2085G>T (p.Thr695=)
c.2070G>T (p.Thr690=)
c.1677G>T (p.Thr559=)
c.2139G>T (p.Thr713=)
c.2073G>T (p.Thr691=)
c.2031G>T (p.Thr677=)
c.1104G>T (p.Thr368=)
 gnomAD v4
20g.63407175C=CA2374774466KCNQ2c.2142G= (p.Thr714=)
c.2088G= (p.Thr696=)
c.1485G= (p.Thr495=)
c.1995G= (p.Thr665=)
c.1656G= (p.Thr552=)
c.2004G= (p.Thr668=)
c.2112G= (p.Thr704=)
c.2076G= (p.Thr692=)
c.2034G= (p.Thr678=)
c.1679+6275G= (n.1679+6275G=)
c.2130G= (p.Thr710=)
c.2196G= (p.Thr732=)
c.2193G= (p.Thr731=)
c.2166G= (p.Thr722=)
c.2085G= (p.Thr695=)
c.2070G= (p.Thr690=)
c.1677G= (p.Thr559=)
c.2139G= (p.Thr713=)
c.2073G= (p.Thr691=)
c.2031G= (p.Thr677=)
c.1104G= (p.Thr368=)
20g.63407175C>GCA511339350KCNQ2c.2142G>C (p.Thr714=)
c.2088G>C (p.Thr696=)
c.1485G>C (p.Thr495=)
c.1995G>C (p.Thr665=)
c.1656G>C (p.Thr552=)
c.2004G>C (p.Thr668=)
c.2112G>C (p.Thr704=)
c.2076G>C (p.Thr692=)
c.2034G>C (p.Thr678=)
c.1679+6275G>C (n.1679+6275G>C)
c.2130G>C (p.Thr710=)
c.2196G>C (p.Thr732=)
c.2193G>C (p.Thr731=)
c.2166G>C (p.Thr722=)
c.2085G>C (p.Thr695=)
c.2070G>C (p.Thr690=)
c.1677G>C (p.Thr559=)
c.2139G>C (p.Thr713=)
c.2073G>C (p.Thr691=)
c.2031G>C (p.Thr677=)
c.1104G>C (p.Thr368=)
20g.63407175C>TCA9958155KCNQ2c.2142G>A (p.Thr714=)
c.2088G>A (p.Thr696=)
c.1485G>A (p.Thr495=)
c.1995G>A (p.Thr665=)
c.1656G>A (p.Thr552=)
c.2004G>A (p.Thr668=)
c.2112G>A (p.Thr704=)
c.2076G>A (p.Thr692=)
c.2034G>A (p.Thr678=)
c.1679+6275G>A (n.1679+6275G>A)
c.2130G>A (p.Thr710=)
c.2196G>A (p.Thr732=)
c.2193G>A (p.Thr731=)
c.2166G>A (p.Thr722=)
c.2085G>A (p.Thr695=)
c.2070G>A (p.Thr690=)
c.1677G>A (p.Thr559=)
c.2139G>A (p.Thr713=)
c.2073G>A (p.Thr691=)
c.2031G>A (p.Thr677=)
c.1104G>A (p.Thr368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407176G>ACA9958156KCNQ2c.2141C>T (p.Thr714Met)
c.2087C>T (p.Thr696Met)
c.1484C>T (p.Thr495Met)
c.1994C>T (p.Thr665Met)
c.1655C>T (p.Thr552Met)
c.2003C>T (p.Thr668Met)
c.2111C>T (p.Thr704Met)
c.2075C>T (p.Thr692Met)
c.2033C>T (p.Thr678Met)
c.1679+6274C>T (n.1679+6274C>T)
c.2129C>T (p.Thr710Met)
c.2195C>T (p.Thr732Met)
c.2192C>T (p.Thr731Met)
c.2165C>T (p.Thr722Met)
c.2084C>T (p.Thr695Met)
c.2069C>T (p.Thr690Met)
c.1676C>T (p.Thr559Met)
c.2138C>T (p.Thr713Met)
c.2072C>T (p.Thr691Met)
c.2030C>T (p.Thr677Met)
c.1103C>T (p.Thr368Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407176G>CCA409639020KCNQ2c.2141C>G (p.Thr714Arg)
c.2087C>G (p.Thr696Arg)
c.1484C>G (p.Thr495Arg)
c.1994C>G (p.Thr665Arg)
c.1655C>G (p.Thr552Arg)
c.2003C>G (p.Thr668Arg)
c.2111C>G (p.Thr704Arg)
c.2075C>G (p.Thr692Arg)
c.2033C>G (p.Thr678Arg)
c.1679+6274C>G (n.1679+6274C>G)
c.2129C>G (p.Thr710Arg)
c.2195C>G (p.Thr732Arg)
c.2192C>G (p.Thr731Arg)
c.2165C>G (p.Thr722Arg)
c.2084C>G (p.Thr695Arg)
c.2069C>G (p.Thr690Arg)
c.1676C>G (p.Thr559Arg)
c.2138C>G (p.Thr713Arg)
c.2072C>G (p.Thr691Arg)
c.2030C>G (p.Thr677Arg)
c.1103C>G (p.Thr368Arg)
20g.63407176G=CA2374774467KCNQ2c.2141C= (p.Thr714=)
c.2087C= (p.Thr696=)
c.1484C= (p.Thr495=)
c.1994C= (p.Thr665=)
c.1655C= (p.Thr552=)
c.2003C= (p.Thr668=)
c.2111C= (p.Thr704=)
c.2075C= (p.Thr692=)
c.2033C= (p.Thr678=)
c.1679+6274C= (n.1679+6274C=)
c.2129C= (p.Thr710=)
c.2195C= (p.Thr732=)
c.2192C= (p.Thr731=)
c.2165C= (p.Thr722=)
c.2084C= (p.Thr695=)
c.2069C= (p.Thr690=)
c.1676C= (p.Thr559=)
c.2138C= (p.Thr713=)
c.2072C= (p.Thr691=)
c.2030C= (p.Thr677=)
c.1103C= (p.Thr368=)
20g.63407176G>TCA409639021KCNQ2c.2141C>A (p.Thr714Lys)
c.2087C>A (p.Thr696Lys)
c.1484C>A (p.Thr495Lys)
c.1994C>A (p.Thr665Lys)
c.1655C>A (p.Thr552Lys)
c.2003C>A (p.Thr668Lys)
c.2111C>A (p.Thr704Lys)
c.2075C>A (p.Thr692Lys)
c.2033C>A (p.Thr678Lys)
c.1679+6274C>A (n.1679+6274C>A)
c.2129C>A (p.Thr710Lys)
c.2195C>A (p.Thr732Lys)
c.2192C>A (p.Thr731Lys)
c.2165C>A (p.Thr722Lys)
c.2084C>A (p.Thr695Lys)
c.2069C>A (p.Thr690Lys)
c.1676C>A (p.Thr559Lys)
c.2138C>A (p.Thr713Lys)
c.2072C>A (p.Thr691Lys)
c.2030C>A (p.Thr677Lys)
c.1103C>A (p.Thr368Lys)
 gnomAD v4
20g.63407177T>ACA409639022KCNQ2c.2140A>T (p.Thr714Ser)
c.2086A>T (p.Thr696Ser)
c.1483A>T (p.Thr495Ser)
c.1993A>T (p.Thr665Ser)
c.1654A>T (p.Thr552Ser)
c.2002A>T (p.Thr668Ser)
c.2110A>T (p.Thr704Ser)
c.2074A>T (p.Thr692Ser)
c.2032A>T (p.Thr678Ser)
c.1679+6273A>T (n.1679+6273A>T)
c.2128A>T (p.Thr710Ser)
c.2194A>T (p.Thr732Ser)
c.2191A>T (p.Thr731Ser)
c.2164A>T (p.Thr722Ser)
c.2083A>T (p.Thr695Ser)
c.2068A>T (p.Thr690Ser)
c.1675A>T (p.Thr559Ser)
c.2137A>T (p.Thr713Ser)
c.2071A>T (p.Thr691Ser)
c.2029A>T (p.Thr677Ser)
c.1102A>T (p.Thr368Ser)
20g.63407177T>CCA409639023KCNQ2c.2140A>G (p.Thr714Ala)
c.2086A>G (p.Thr696Ala)
c.1483A>G (p.Thr495Ala)
c.1993A>G (p.Thr665Ala)
c.1654A>G (p.Thr552Ala)
c.2002A>G (p.Thr668Ala)
c.2110A>G (p.Thr704Ala)
c.2074A>G (p.Thr692Ala)
c.2032A>G (p.Thr678Ala)
c.1679+6273A>G (n.1679+6273A>G)
c.2128A>G (p.Thr710Ala)
c.2194A>G (p.Thr732Ala)
c.2191A>G (p.Thr731Ala)
c.2164A>G (p.Thr722Ala)
c.2083A>G (p.Thr695Ala)
c.2068A>G (p.Thr690Ala)
c.1675A>G (p.Thr559Ala)
c.2137A>G (p.Thr713Ala)
c.2071A>G (p.Thr691Ala)
c.2029A>G (p.Thr677Ala)
c.1102A>G (p.Thr368Ala)
 gnomAD v4
20g.63407177T>GCA409639024KCNQ2c.2140A>C (p.Thr714Pro)
c.2086A>C (p.Thr696Pro)
c.1483A>C (p.Thr495Pro)
c.1993A>C (p.Thr665Pro)
c.1654A>C (p.Thr552Pro)
c.2002A>C (p.Thr668Pro)
c.2110A>C (p.Thr704Pro)
c.2074A>C (p.Thr692Pro)
c.2032A>C (p.Thr678Pro)
c.1679+6273A>C (n.1679+6273A>C)
c.2128A>C (p.Thr710Pro)
c.2194A>C (p.Thr732Pro)
c.2191A>C (p.Thr731Pro)
c.2164A>C (p.Thr722Pro)
c.2083A>C (p.Thr695Pro)
c.2068A>C (p.Thr690Pro)
c.1675A>C (p.Thr559Pro)
c.2137A>C (p.Thr713Pro)
c.2071A>C (p.Thr691Pro)
c.2029A>C (p.Thr677Pro)
c.1102A>C (p.Thr368Pro)
20g.63407177_63407178delinsTGCA2374774468KCNQ2c.2139_2140delinsCA (p.Ser713=)
c.2085_2086delinsCA (p.Ser695=)
c.1482_1483delinsCA (p.Ser494=)
c.1992_1993delinsCA (p.Ser664=)
c.1653_1654delinsCA (p.Ser551=)
c.2001_2002delinsCA (p.Ser667=)
c.2109_2110delinsCA (p.Ser703=)
c.2073_2074delinsCA (p.Ser691=)
c.2031_2032delinsCA (p.Ser677=)
c.1679+6272_1679+6273delinsCA (n.1679+6272_1679+6273delinsCA)
c.2127_2128delinsCA (p.Ser709=)
c.2193_2194delinsCA (p.Ser731=)
c.2190_2191delinsCA (p.Ser730=)
c.2163_2164delinsCA (p.Ser721=)
c.2082_2083delinsCA (p.Ser694=)
c.2067_2068delinsCA (p.Ser689=)
c.1674_1675delinsCA (p.Ser558=)
c.2136_2137delinsCA (p.Ser712=)
c.2070_2071delinsCA (p.Ser690=)
c.2028_2029delinsCA (p.Ser676=)
c.1101_1102delinsCA (p.Ser367=)
20g.63407178G>ACA511339354KCNQ2c.2139C>T (p.Ser713=)
c.2085C>T (p.Ser695=)
c.1482C>T (p.Ser494=)
c.1992C>T (p.Ser664=)
c.1653C>T (p.Ser551=)
c.2001C>T (p.Ser667=)
c.2109C>T (p.Ser703=)
c.2073C>T (p.Ser691=)
c.2031C>T (p.Ser677=)
c.1679+6272C>T (n.1679+6272C>T)
c.2127C>T (p.Ser709=)
c.2193C>T (p.Ser731=)
c.2190C>T (p.Ser730=)
c.2163C>T (p.Ser721=)
c.2082C>T (p.Ser694=)
c.2067C>T (p.Ser689=)
c.1674C>T (p.Ser558=)
c.2136C>T (p.Ser712=)
c.2070C>T (p.Ser690=)
c.2028C>T (p.Ser676=)
c.1101C>T (p.Ser367=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.63407178G>CCA511339355KCNQ2c.2139C>G (p.Ser713=)
c.2085C>G (p.Ser695=)
c.1482C>G (p.Ser494=)
c.1992C>G (p.Ser664=)
c.1653C>G (p.Ser551=)
c.2001C>G (p.Ser667=)
c.2109C>G (p.Ser703=)
c.2073C>G (p.Ser691=)
c.2031C>G (p.Ser677=)
c.1679+6272C>G (n.1679+6272C>G)
c.2127C>G (p.Ser709=)
c.2193C>G (p.Ser731=)
c.2190C>G (p.Ser730=)
c.2163C>G (p.Ser721=)
c.2082C>G (p.Ser694=)
c.2067C>G (p.Ser689=)
c.1674C>G (p.Ser558=)
c.2136C>G (p.Ser712=)
c.2070C>G (p.Ser690=)
c.2028C>G (p.Ser676=)
c.1101C>G (p.Ser367=)
20g.63407178G=CA2374774469KCNQ2c.2139C= (p.Ser713=)
c.2085C= (p.Ser695=)
c.1482C= (p.Ser494=)
c.1992C= (p.Ser664=)
c.1653C= (p.Ser551=)
c.2001C= (p.Ser667=)
c.2109C= (p.Ser703=)
c.2073C= (p.Ser691=)
c.2031C= (p.Ser677=)
c.1679+6272C= (n.1679+6272C=)
c.2127C= (p.Ser709=)
c.2193C= (p.Ser731=)
c.2190C= (p.Ser730=)
c.2163C= (p.Ser721=)
c.2082C= (p.Ser694=)
c.2067C= (p.Ser689=)
c.1674C= (p.Ser558=)
c.2136C= (p.Ser712=)
c.2070C= (p.Ser690=)
c.2028C= (p.Ser676=)
c.1101C= (p.Ser367=)
20g.63407178G>TCA511339356KCNQ2c.2139C>A (p.Ser713=)
c.2085C>A (p.Ser695=)
c.1482C>A (p.Ser494=)
c.1992C>A (p.Ser664=)
c.1653C>A (p.Ser551=)
c.2001C>A (p.Ser667=)
c.2109C>A (p.Ser703=)
c.2073C>A (p.Ser691=)
c.2031C>A (p.Ser677=)
c.1679+6272C>A (n.1679+6272C>A)
c.2127C>A (p.Ser709=)
c.2193C>A (p.Ser731=)
c.2190C>A (p.Ser730=)
c.2163C>A (p.Ser721=)
c.2082C>A (p.Ser694=)
c.2067C>A (p.Ser689=)
c.1674C>A (p.Ser558=)
c.2136C>A (p.Ser712=)
c.2070C>A (p.Ser690=)
c.2028C>A (p.Ser676=)
c.1101C>A (p.Ser367=)
 gnomAD v4
20g.63407179delCA645369788KCNQ2c.2139del (p.Thr714ArgfsTer?)
c.2085del (p.Thr696ArgfsTer?)
c.1482del (p.Thr495ArgfsTer?)
c.1992del (p.Thr665ArgfsTer?)
c.1653del (p.Thr552ArgfsTer?)
c.2001del (p.Thr668ArgfsTer?)
c.2109del (p.Thr704ArgfsTer?)
c.2073del (p.Thr692ArgfsTer?)
c.2031del (p.Thr678ArgfsTer?)
c.1679+6272del (n.1679+6272del)
c.2127del (p.Thr710ArgfsTer?)
c.2193del (p.Thr732ArgfsTer?)
c.2190del (p.Thr731ArgfsTer?)
c.2163del (p.Thr722ArgfsTer?)
c.2082del (p.Thr695ArgfsTer?)
c.2067del (p.Thr690ArgfsTer?)
c.1674del (p.Thr559ArgfsTer?)
c.2136del (p.Thr713ArgfsTer?)
c.2070del (p.Thr691ArgfsTer?)
c.2028del (p.Thr677ArgfsTer?)
c.1101del (p.Thr368ArgfsTer?)
 ClinVar dbSNP
20g.63407179G>ACA409639025KCNQ2c.2138C>T (p.Ser713Phe)
c.2084C>T (p.Ser695Phe)
c.1481C>T (p.Ser494Phe)
c.1991C>T (p.Ser664Phe)
c.1652C>T (p.Ser551Phe)
c.2000C>T (p.Ser667Phe)
c.2108C>T (p.Ser703Phe)
c.2072C>T (p.Ser691Phe)
c.2030C>T (p.Ser677Phe)
c.1679+6271C>T (n.1679+6271C>T)
c.2126C>T (p.Ser709Phe)
c.2192C>T (p.Ser731Phe)
c.2189C>T (p.Ser730Phe)
c.2162C>T (p.Ser721Phe)
c.2081C>T (p.Ser694Phe)
c.2066C>T (p.Ser689Phe)
c.1673C>T (p.Ser558Phe)
c.2135C>T (p.Ser712Phe)
c.2069C>T (p.Ser690Phe)
c.2027C>T (p.Ser676Phe)
c.1100C>T (p.Ser367Phe)
 dbSNP gnomAD v2
20g.63407179G>CCA409639027KCNQ2c.2138C>G (p.Ser713Cys)
c.2084C>G (p.Ser695Cys)
c.1481C>G (p.Ser494Cys)
c.1991C>G (p.Ser664Cys)
c.1652C>G (p.Ser551Cys)
c.2000C>G (p.Ser667Cys)
c.2108C>G (p.Ser703Cys)
c.2072C>G (p.Ser691Cys)
c.2030C>G (p.Ser677Cys)
c.1679+6271C>G (n.1679+6271C>G)
c.2126C>G (p.Ser709Cys)
c.2192C>G (p.Ser731Cys)
c.2189C>G (p.Ser730Cys)
c.2162C>G (p.Ser721Cys)
c.2081C>G (p.Ser694Cys)
c.2066C>G (p.Ser689Cys)
c.1673C>G (p.Ser558Cys)
c.2135C>G (p.Ser712Cys)
c.2069C>G (p.Ser690Cys)
c.2027C>G (p.Ser676Cys)
c.1100C>G (p.Ser367Cys)
20g.63407179G=CA2374774470KCNQ2c.2138C= (p.Ser713=)
c.2084C= (p.Ser695=)
c.1481C= (p.Ser494=)
c.1991C= (p.Ser664=)
c.1652C= (p.Ser551=)
c.2000C= (p.Ser667=)
c.2108C= (p.Ser703=)
c.2072C= (p.Ser691=)
c.2030C= (p.Ser677=)
c.1679+6271C= (n.1679+6271C=)
c.2126C= (p.Ser709=)
c.2192C= (p.Ser731=)
c.2189C= (p.Ser730=)
c.2162C= (p.Ser721=)
c.2081C= (p.Ser694=)
c.2066C= (p.Ser689=)
c.1673C= (p.Ser558=)
c.2135C= (p.Ser712=)
c.2069C= (p.Ser690=)
c.2027C= (p.Ser676=)
c.1100C= (p.Ser367=)
20g.63407179G>TCA409639026KCNQ2c.2138C>A (p.Ser713Tyr)
c.2084C>A (p.Ser695Tyr)
c.1481C>A (p.Ser494Tyr)
c.1991C>A (p.Ser664Tyr)
c.1652C>A (p.Ser551Tyr)
c.2000C>A (p.Ser667Tyr)
c.2108C>A (p.Ser703Tyr)
c.2072C>A (p.Ser691Tyr)
c.2030C>A (p.Ser677Tyr)
c.1679+6271C>A (n.1679+6271C>A)
c.2126C>A (p.Ser709Tyr)
c.2192C>A (p.Ser731Tyr)
c.2189C>A (p.Ser730Tyr)
c.2162C>A (p.Ser721Tyr)
c.2081C>A (p.Ser694Tyr)
c.2066C>A (p.Ser689Tyr)
c.1673C>A (p.Ser558Tyr)
c.2135C>A (p.Ser712Tyr)
c.2069C>A (p.Ser690Tyr)
c.2027C>A (p.Ser676Tyr)
c.1100C>A (p.Ser367Tyr)
 gnomAD v4
20g.63407180A=CA2374774471KCNQ2c.2137T= (p.Ser713=)
c.2083T= (p.Ser695=)
c.1480T= (p.Ser494=)
c.1990T= (p.Ser664=)
c.1651T= (p.Ser551=)
c.1999T= (p.Ser667=)
c.2107T= (p.Ser703=)
c.2071T= (p.Ser691=)
c.2029T= (p.Ser677=)
c.1679+6270T= (n.1679+6270T=)
c.2125T= (p.Ser709=)
c.2191T= (p.Ser731=)
c.2188T= (p.Ser730=)
c.2161T= (p.Ser721=)
c.2080T= (p.Ser694=)
c.2065T= (p.Ser689=)
c.1672T= (p.Ser558=)
c.2134T= (p.Ser712=)
c.2068T= (p.Ser690=)
c.2026T= (p.Ser676=)
c.1099T= (p.Ser367=)
20g.63407180A>CCA409639028KCNQ2c.2137T>G (p.Ser713Ala)
c.2083T>G (p.Ser695Ala)
c.1480T>G (p.Ser494Ala)
c.1990T>G (p.Ser664Ala)
c.1651T>G (p.Ser551Ala)
c.1999T>G (p.Ser667Ala)
c.2107T>G (p.Ser703Ala)
c.2071T>G (p.Ser691Ala)
c.2029T>G (p.Ser677Ala)
c.1679+6270T>G (n.1679+6270T>G)
c.2125T>G (p.Ser709Ala)
c.2191T>G (p.Ser731Ala)
c.2188T>G (p.Ser730Ala)
c.2161T>G (p.Ser721Ala)
c.2080T>G (p.Ser694Ala)
c.2065T>G (p.Ser689Ala)
c.1672T>G (p.Ser558Ala)
c.2134T>G (p.Ser712Ala)
c.2068T>G (p.Ser690Ala)
c.2026T>G (p.Ser676Ala)
c.1099T>G (p.Ser367Ala)
20g.63407180A>GCA409639029KCNQ2c.2137T>C (p.Ser713Pro)
c.2083T>C (p.Ser695Pro)
c.1480T>C (p.Ser494Pro)
c.1990T>C (p.Ser664Pro)
c.1651T>C (p.Ser551Pro)
c.1999T>C (p.Ser667Pro)
c.2107T>C (p.Ser703Pro)
c.2071T>C (p.Ser691Pro)
c.2029T>C (p.Ser677Pro)
c.1679+6270T>C (n.1679+6270T>C)
c.2125T>C (p.Ser709Pro)
c.2191T>C (p.Ser731Pro)
c.2188T>C (p.Ser730Pro)
c.2161T>C (p.Ser721Pro)
c.2080T>C (p.Ser694Pro)
c.2065T>C (p.Ser689Pro)
c.1672T>C (p.Ser558Pro)
c.2134T>C (p.Ser712Pro)
c.2068T>C (p.Ser690Pro)
c.2026T>C (p.Ser676Pro)
c.1099T>C (p.Ser367Pro)
 dbSNP gnomAD v2 gnomAD v4
20g.63407180A>TCA409639030KCNQ2c.2137T>A (p.Ser713Thr)
c.2083T>A (p.Ser695Thr)
c.1480T>A (p.Ser494Thr)
c.1990T>A (p.Ser664Thr)
c.1651T>A (p.Ser551Thr)
c.1999T>A (p.Ser667Thr)
c.2107T>A (p.Ser703Thr)
c.2071T>A (p.Ser691Thr)
c.2029T>A (p.Ser677Thr)
c.1679+6270T>A (n.1679+6270T>A)
c.2125T>A (p.Ser709Thr)
c.2191T>A (p.Ser731Thr)
c.2188T>A (p.Ser730Thr)
c.2161T>A (p.Ser721Thr)
c.2080T>A (p.Ser694Thr)
c.2065T>A (p.Ser689Thr)
c.1672T>A (p.Ser558Thr)
c.2134T>A (p.Ser712Thr)
c.2068T>A (p.Ser690Thr)
c.2026T>A (p.Ser676Thr)
c.1099T>A (p.Ser367Thr)
20g.63407181G>ACA511339361KCNQ2c.2136C>T (p.Ser712=)
c.2082C>T (p.Ser694=)
c.1479C>T (p.Ser493=)
c.1989C>T (p.Ser663=)
c.1650C>T (p.Ser550=)
c.1998C>T (p.Ser666=)
c.2106C>T (p.Ser702=)
c.2070C>T (p.Ser690=)
c.2028C>T (p.Ser676=)
c.1679+6269C>T (n.1679+6269C>T)
c.2124C>T (p.Ser708=)
c.2190C>T (p.Ser730=)
c.2187C>T (p.Ser729=)
c.2160C>T (p.Ser720=)
c.2079C>T (p.Ser693=)
c.2064C>T (p.Ser688=)
c.1671C>T (p.Ser557=)
c.2133C>T (p.Ser711=)
c.2067C>T (p.Ser689=)
c.2025C>T (p.Ser675=)
c.1098C>T (p.Ser366=)
20g.63407181G>CCA409639031KCNQ2c.2136C>G (p.Ser712Arg)
c.2082C>G (p.Ser694Arg)
c.1479C>G (p.Ser493Arg)
c.1989C>G (p.Ser663Arg)
c.1650C>G (p.Ser550Arg)
c.1998C>G (p.Ser666Arg)
c.2106C>G (p.Ser702Arg)
c.2070C>G (p.Ser690Arg)
c.2028C>G (p.Ser676Arg)
c.1679+6269C>G (n.1679+6269C>G)
c.2124C>G (p.Ser708Arg)
c.2190C>G (p.Ser730Arg)
c.2187C>G (p.Ser729Arg)
c.2160C>G (p.Ser720Arg)
c.2079C>G (p.Ser693Arg)
c.2064C>G (p.Ser688Arg)
c.1671C>G (p.Ser557Arg)
c.2133C>G (p.Ser711Arg)
c.2067C>G (p.Ser689Arg)
c.2025C>G (p.Ser675Arg)
c.1098C>G (p.Ser366Arg)
 ClinVar
20g.63407181G>TCA409639032KCNQ2c.2136C>A (p.Ser712Arg)
c.2082C>A (p.Ser694Arg)
c.1479C>A (p.Ser493Arg)
c.1989C>A (p.Ser663Arg)
c.1650C>A (p.Ser550Arg)
c.1998C>A (p.Ser666Arg)
c.2106C>A (p.Ser702Arg)
c.2070C>A (p.Ser690Arg)
c.2028C>A (p.Ser676Arg)
c.1679+6269C>A (n.1679+6269C>A)
c.2124C>A (p.Ser708Arg)
c.2190C>A (p.Ser730Arg)
c.2187C>A (p.Ser729Arg)
c.2160C>A (p.Ser720Arg)
c.2079C>A (p.Ser693Arg)
c.2064C>A (p.Ser688Arg)
c.1671C>A (p.Ser557Arg)
c.2133C>A (p.Ser711Arg)
c.2067C>A (p.Ser689Arg)
c.2025C>A (p.Ser675Arg)
c.1098C>A (p.Ser366Arg)
 gnomAD v4
20g.63407182C>ACA409639033KCNQ2c.2135G>T (p.Ser712Ile)
c.2081G>T (p.Ser694Ile)
c.1478G>T (p.Ser493Ile)
c.1988G>T (p.Ser663Ile)
c.1649G>T (p.Ser550Ile)
c.1997G>T (p.Ser666Ile)
c.2105G>T (p.Ser702Ile)
c.2069G>T (p.Ser690Ile)
c.2027G>T (p.Ser676Ile)
c.1679+6268G>T (n.1679+6268G>T)
c.2123G>T (p.Ser708Ile)
c.2189G>T (p.Ser730Ile)
c.2186G>T (p.Ser729Ile)
c.2159G>T (p.Ser720Ile)
c.2078G>T (p.Ser693Ile)
c.2063G>T (p.Ser688Ile)
c.1670G>T (p.Ser557Ile)
c.2132G>T (p.Ser711Ile)
c.2066G>T (p.Ser689Ile)
c.2024G>T (p.Ser675Ile)
c.1097G>T (p.Ser366Ile)
 gnomAD v4
20g.63407182C=CA2374774472KCNQ2c.2135G= (p.Ser712=)
c.2081G= (p.Ser694=)
c.1478G= (p.Ser493=)
c.1988G= (p.Ser663=)
c.1649G= (p.Ser550=)
c.1997G= (p.Ser666=)
c.2105G= (p.Ser702=)
c.2069G= (p.Ser690=)
c.2027G= (p.Ser676=)
c.1679+6268G= (n.1679+6268G=)
c.2123G= (p.Ser708=)
c.2189G= (p.Ser730=)
c.2186G= (p.Ser729=)
c.2159G= (p.Ser720=)
c.2078G= (p.Ser693=)
c.2063G= (p.Ser688=)
c.1670G= (p.Ser557=)
c.2132G= (p.Ser711=)
c.2066G= (p.Ser689=)
c.2024G= (p.Ser675=)
c.1097G= (p.Ser366=)
20g.63407182C>GCA9958157KCNQ2c.2135G>C (p.Ser712Thr)
c.2081G>C (p.Ser694Thr)
c.1478G>C (p.Ser493Thr)
c.1988G>C (p.Ser663Thr)
c.1649G>C (p.Ser550Thr)
c.1997G>C (p.Ser666Thr)
c.2105G>C (p.Ser702Thr)
c.2069G>C (p.Ser690Thr)
c.2027G>C (p.Ser676Thr)
c.1679+6268G>C (n.1679+6268G>C)
c.2123G>C (p.Ser708Thr)
c.2189G>C (p.Ser730Thr)
c.2186G>C (p.Ser729Thr)
c.2159G>C (p.Ser720Thr)
c.2078G>C (p.Ser693Thr)
c.2063G>C (p.Ser688Thr)
c.1670G>C (p.Ser557Thr)
c.2132G>C (p.Ser711Thr)
c.2066G>C (p.Ser689Thr)
c.2024G>C (p.Ser675Thr)
c.1097G>C (p.Ser366Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407182C>TCA409639034KCNQ2c.2135G>A (p.Ser712Asn)
c.2081G>A (p.Ser694Asn)
c.1478G>A (p.Ser493Asn)
c.1988G>A (p.Ser663Asn)
c.1649G>A (p.Ser550Asn)
c.1997G>A (p.Ser666Asn)
c.2105G>A (p.Ser702Asn)
c.2069G>A (p.Ser690Asn)
c.2027G>A (p.Ser676Asn)
c.1679+6268G>A (n.1679+6268G>A)
c.2123G>A (p.Ser708Asn)
c.2189G>A (p.Ser730Asn)
c.2186G>A (p.Ser729Asn)
c.2159G>A (p.Ser720Asn)
c.2078G>A (p.Ser693Asn)
c.2063G>A (p.Ser688Asn)
c.1670G>A (p.Ser557Asn)
c.2132G>A (p.Ser711Asn)
c.2066G>A (p.Ser689Asn)
c.2024G>A (p.Ser675Asn)
c.1097G>A (p.Ser366Asn)
20g.63407183T>ACA409639035KCNQ2c.2134A>T (p.Ser712Cys)
c.2080A>T (p.Ser694Cys)
c.1477A>T (p.Ser493Cys)
c.1987A>T (p.Ser663Cys)
c.1648A>T (p.Ser550Cys)
c.1996A>T (p.Ser666Cys)
c.2104A>T (p.Ser702Cys)
c.2068A>T (p.Ser690Cys)
c.2026A>T (p.Ser676Cys)
c.1679+6267A>T (n.1679+6267A>T)
c.2122A>T (p.Ser708Cys)
c.2188A>T (p.Ser730Cys)
c.2185A>T (p.Ser729Cys)
c.2158A>T (p.Ser720Cys)
c.2077A>T (p.Ser693Cys)
c.2062A>T (p.Ser688Cys)
c.1669A>T (p.Ser557Cys)
c.2131A>T (p.Ser711Cys)
c.2065A>T (p.Ser689Cys)
c.2023A>T (p.Ser675Cys)
c.1096A>T (p.Ser366Cys)
20g.63407183T>CCA409639036KCNQ2c.2134A>G (p.Ser712Gly)
c.2080A>G (p.Ser694Gly)
c.1477A>G (p.Ser493Gly)
c.1987A>G (p.Ser663Gly)
c.1648A>G (p.Ser550Gly)
c.1996A>G (p.Ser666Gly)
c.2104A>G (p.Ser702Gly)
c.2068A>G (p.Ser690Gly)
c.2026A>G (p.Ser676Gly)
c.1679+6267A>G (n.1679+6267A>G)
c.2122A>G (p.Ser708Gly)
c.2188A>G (p.Ser730Gly)
c.2185A>G (p.Ser729Gly)
c.2158A>G (p.Ser720Gly)
c.2077A>G (p.Ser693Gly)
c.2062A>G (p.Ser688Gly)
c.1669A>G (p.Ser557Gly)
c.2131A>G (p.Ser711Gly)
c.2065A>G (p.Ser689Gly)
c.2023A>G (p.Ser675Gly)
c.1096A>G (p.Ser366Gly)
20g.63407183T>GCA409639037KCNQ2c.2134A>C (p.Ser712Arg)
c.2080A>C (p.Ser694Arg)
c.1477A>C (p.Ser493Arg)
c.1987A>C (p.Ser663Arg)
c.1648A>C (p.Ser550Arg)
c.1996A>C (p.Ser666Arg)
c.2104A>C (p.Ser702Arg)
c.2068A>C (p.Ser690Arg)
c.2026A>C (p.Ser676Arg)
c.1679+6267A>C (n.1679+6267A>C)
c.2122A>C (p.Ser708Arg)
c.2188A>C (p.Ser730Arg)
c.2185A>C (p.Ser729Arg)
c.2158A>C (p.Ser720Arg)
c.2077A>C (p.Ser693Arg)
c.2062A>C (p.Ser688Arg)
c.1669A>C (p.Ser557Arg)
c.2131A>C (p.Ser711Arg)
c.2065A>C (p.Ser689Arg)
c.2023A>C (p.Ser675Arg)
c.1096A>C (p.Ser366Arg)
 gnomAD v4
20g.63407184G>ACA511339367KCNQ2c.2133C>T (p.Ser711=)
c.2079C>T (p.Ser693=)
c.1476C>T (p.Ser492=)
c.1986C>T (p.Ser662=)
c.1647C>T (p.Ser549=)
c.1995C>T (p.Ser665=)
c.2103C>T (p.Ser701=)
c.2067C>T (p.Ser689=)
c.2025C>T (p.Ser675=)
c.1679+6266C>T (n.1679+6266C>T)
c.2121C>T (p.Ser707=)
c.2187C>T (p.Ser729=)
c.2184C>T (p.Ser728=)
c.2157C>T (p.Ser719=)
c.2076C>T (p.Ser692=)
c.2061C>T (p.Ser687=)
c.1668C>T (p.Ser556=)
c.2130C>T (p.Ser710=)
c.2064C>T (p.Ser688=)
c.2022C>T (p.Ser674=)
c.1095C>T (p.Ser365=)
 gnomAD v4
20g.63407184G>CCA409639038KCNQ2c.2133C>G (p.Ser711Arg)
c.2079C>G (p.Ser693Arg)
c.1476C>G (p.Ser492Arg)
c.1986C>G (p.Ser662Arg)
c.1647C>G (p.Ser549Arg)
c.1995C>G (p.Ser665Arg)
c.2103C>G (p.Ser701Arg)
c.2067C>G (p.Ser689Arg)
c.2025C>G (p.Ser675Arg)
c.1679+6266C>G (n.1679+6266C>G)
c.2121C>G (p.Ser707Arg)
c.2187C>G (p.Ser729Arg)
c.2184C>G (p.Ser728Arg)
c.2157C>G (p.Ser719Arg)
c.2076C>G (p.Ser692Arg)
c.2061C>G (p.Ser687Arg)
c.1668C>G (p.Ser556Arg)
c.2130C>G (p.Ser710Arg)
c.2064C>G (p.Ser688Arg)
c.2022C>G (p.Ser674Arg)
c.1095C>G (p.Ser365Arg)
 ClinVar dbSNP gnomAD v4
20g.63407184G=CA2374774473KCNQ2c.2133C= (p.Ser711=)
c.2079C= (p.Ser693=)
c.1476C= (p.Ser492=)
c.1986C= (p.Ser662=)
c.1647C= (p.Ser549=)
c.1995C= (p.Ser665=)
c.2103C= (p.Ser701=)
c.2067C= (p.Ser689=)
c.2025C= (p.Ser675=)
c.1679+6266C= (n.1679+6266C=)
c.2121C= (p.Ser707=)
c.2187C= (p.Ser729=)
c.2184C= (p.Ser728=)
c.2157C= (p.Ser719=)
c.2076C= (p.Ser692=)
c.2061C= (p.Ser687=)
c.1668C= (p.Ser556=)
c.2130C= (p.Ser710=)
c.2064C= (p.Ser688=)
c.2022C= (p.Ser674=)
c.1095C= (p.Ser365=)
20g.63407184G>TCA409639039KCNQ2c.2133C>A (p.Ser711Arg)
c.2079C>A (p.Ser693Arg)
c.1476C>A (p.Ser492Arg)
c.1986C>A (p.Ser662Arg)
c.1647C>A (p.Ser549Arg)
c.1995C>A (p.Ser665Arg)
c.2103C>A (p.Ser701Arg)
c.2067C>A (p.Ser689Arg)
c.2025C>A (p.Ser675Arg)
c.1679+6266C>A (n.1679+6266C>A)
c.2121C>A (p.Ser707Arg)
c.2187C>A (p.Ser729Arg)
c.2184C>A (p.Ser728Arg)
c.2157C>A (p.Ser719Arg)
c.2076C>A (p.Ser692Arg)
c.2061C>A (p.Ser687Arg)
c.1668C>A (p.Ser556Arg)
c.2130C>A (p.Ser710Arg)
c.2064C>A (p.Ser688Arg)
c.2022C>A (p.Ser674Arg)
c.1095C>A (p.Ser365Arg)
 gnomAD v4
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)

Number of alleles fetched