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.63407050delCA2653805402KCNQ2c.2269del (p.Leu757TrpfsTer?)
c.2215del (p.Leu739TrpfsTer?)
c.1612del (p.Leu538TrpfsTer?)
c.2122del (p.Leu708TrpfsTer?)
c.1783del (p.Leu595TrpfsTer?)
c.2131del (p.Leu711TrpfsTer?)
c.2239del (p.Leu747TrpfsTer?)
c.2203del (p.Leu735TrpfsTer?)
c.2161del (p.Leu721TrpfsTer?)
c.1680-6205del (n.1680-6205del)
c.2257del (p.Leu753TrpfsTer?)
c.2323del (p.Leu775TrpfsTer?)
c.2320del (p.Leu774TrpfsTer?)
c.2293del (p.Leu765TrpfsTer?)
c.2212del (p.Leu738TrpfsTer?)
c.2197del (p.Leu733TrpfsTer?)
c.1804del (p.Leu602TrpfsTer?)
c.2266del (p.Leu756TrpfsTer?)
c.2200del (p.Leu734TrpfsTer?)
c.2158del (p.Leu720TrpfsTer?)
c.1231del (p.Leu411TrpfsTer?)
 gnomAD v4
20g.63407050G>ACA409638471KCNQ2c.2267C>T (p.Ser756Phe)
c.2213C>T (p.Ser738Phe)
c.1610C>T (p.Ser537Phe)
c.2120C>T (p.Ser707Phe)
c.1781C>T (p.Ser594Phe)
c.2129C>T (p.Ser710Phe)
c.2237C>T (p.Ser746Phe)
c.2201C>T (p.Ser734Phe)
c.2159C>T (p.Ser720Phe)
c.1680-6207C>T (n.1680-6207C>T)
c.2255C>T (p.Ser752Phe)
c.2321C>T (p.Ser774Phe)
c.2318C>T (p.Ser773Phe)
c.2291C>T (p.Ser764Phe)
c.2210C>T (p.Ser737Phe)
c.2195C>T (p.Ser732Phe)
c.1802C>T (p.Ser601Phe)
c.2264C>T (p.Ser755Phe)
c.2198C>T (p.Ser733Phe)
c.2156C>T (p.Ser719Phe)
c.1229C>T (p.Ser410Phe)
 dbSNP
20g.63407050G>CCA409638468KCNQ2c.2267C>G (p.Ser756Cys)
c.2213C>G (p.Ser738Cys)
c.1610C>G (p.Ser537Cys)
c.2120C>G (p.Ser707Cys)
c.1781C>G (p.Ser594Cys)
c.2129C>G (p.Ser710Cys)
c.2237C>G (p.Ser746Cys)
c.2201C>G (p.Ser734Cys)
c.2159C>G (p.Ser720Cys)
c.1680-6207C>G (n.1680-6207C>G)
c.2255C>G (p.Ser752Cys)
c.2321C>G (p.Ser774Cys)
c.2318C>G (p.Ser773Cys)
c.2291C>G (p.Ser764Cys)
c.2210C>G (p.Ser737Cys)
c.2195C>G (p.Ser732Cys)
c.1802C>G (p.Ser601Cys)
c.2264C>G (p.Ser755Cys)
c.2198C>G (p.Ser733Cys)
c.2156C>G (p.Ser719Cys)
c.1229C>G (p.Ser410Cys)
20g.63407050G=CA2374774391KCNQ2c.2267C= (p.Ser756=)
c.2213C= (p.Ser738=)
c.1610C= (p.Ser537=)
c.2120C= (p.Ser707=)
c.1781C= (p.Ser594=)
c.2129C= (p.Ser710=)
c.2237C= (p.Ser746=)
c.2201C= (p.Ser734=)
c.2159C= (p.Ser720=)
c.1680-6207C= (n.1680-6207C=)
c.2255C= (p.Ser752=)
c.2321C= (p.Ser774=)
c.2318C= (p.Ser773=)
c.2291C= (p.Ser764=)
c.2210C= (p.Ser737=)
c.2195C= (p.Ser732=)
c.1802C= (p.Ser601=)
c.2264C= (p.Ser755=)
c.2198C= (p.Ser733=)
c.2156C= (p.Ser719=)
c.1229C= (p.Ser410=)
20g.63407050G>TCA409638465KCNQ2c.2267C>A (p.Ser756Tyr)
c.2213C>A (p.Ser738Tyr)
c.1610C>A (p.Ser537Tyr)
c.2120C>A (p.Ser707Tyr)
c.1781C>A (p.Ser594Tyr)
c.2129C>A (p.Ser710Tyr)
c.2237C>A (p.Ser746Tyr)
c.2201C>A (p.Ser734Tyr)
c.2159C>A (p.Ser720Tyr)
c.1680-6207C>A (n.1680-6207C>A)
c.2255C>A (p.Ser752Tyr)
c.2321C>A (p.Ser774Tyr)
c.2318C>A (p.Ser773Tyr)
c.2291C>A (p.Ser764Tyr)
c.2210C>A (p.Ser737Tyr)
c.2195C>A (p.Ser732Tyr)
c.1802C>A (p.Ser601Tyr)
c.2264C>A (p.Ser755Tyr)
c.2198C>A (p.Ser733Tyr)
c.2156C>A (p.Ser719Tyr)
c.1229C>A (p.Ser410Tyr)
 gnomAD v4
20g.63407050_63407051insTCA317422106KCNQ2c.2266_2267insA (p.Ser756TyrfsTer?)
c.2212_2213insA (p.Ser738TyrfsTer?)
c.1609_1610insA (p.Ser537TyrfsTer?)
c.2119_2120insA (p.Ser707TyrfsTer?)
c.1780_1781insA (p.Ser594TyrfsTer?)
c.2128_2129insA (p.Ser710TyrfsTer?)
c.2236_2237insA (p.Ser746TyrfsTer?)
c.2200_2201insA (p.Ser734TyrfsTer?)
c.2158_2159insA (p.Ser720TyrfsTer?)
c.1680-6208_1680-6207insA (n.1680-6208_1680-6207insA)
c.2254_2255insA (p.Ser752TyrfsTer?)
c.2320_2321insA (p.Ser774TyrfsTer?)
c.2317_2318insA (p.Ser773TyrfsTer?)
c.2290_2291insA (p.Ser764TyrfsTer?)
c.2209_2210insA (p.Ser737TyrfsTer?)
c.2194_2195insA (p.Ser732TyrfsTer?)
c.1801_1802insA (p.Ser601TyrfsTer?)
c.2263_2264insA (p.Ser755TyrfsTer?)
c.2197_2198insA (p.Ser733TyrfsTer?)
c.2155_2156insA (p.Ser719TyrfsTer?)
c.1228_1229insA (p.Ser410TyrfsTer?)
 dbSNP
20g.63407051A>CCA409638475KCNQ2c.2266T>G (p.Ser756Ala)
c.2212T>G (p.Ser738Ala)
c.1609T>G (p.Ser537Ala)
c.2119T>G (p.Ser707Ala)
c.1780T>G (p.Ser594Ala)
c.2128T>G (p.Ser710Ala)
c.2236T>G (p.Ser746Ala)
c.2200T>G (p.Ser734Ala)
c.2158T>G (p.Ser720Ala)
c.1680-6208T>G (n.1680-6208T>G)
c.2254T>G (p.Ser752Ala)
c.2320T>G (p.Ser774Ala)
c.2317T>G (p.Ser773Ala)
c.2290T>G (p.Ser764Ala)
c.2209T>G (p.Ser737Ala)
c.2194T>G (p.Ser732Ala)
c.1801T>G (p.Ser601Ala)
c.2263T>G (p.Ser755Ala)
c.2197T>G (p.Ser733Ala)
c.2155T>G (p.Ser719Ala)
c.1228T>G (p.Ser410Ala)
20g.63407051A>GCA409638483KCNQ2c.2266T>C (p.Ser756Pro)
c.2212T>C (p.Ser738Pro)
c.1609T>C (p.Ser537Pro)
c.2119T>C (p.Ser707Pro)
c.1780T>C (p.Ser594Pro)
c.2128T>C (p.Ser710Pro)
c.2236T>C (p.Ser746Pro)
c.2200T>C (p.Ser734Pro)
c.2158T>C (p.Ser720Pro)
c.1680-6208T>C (n.1680-6208T>C)
c.2254T>C (p.Ser752Pro)
c.2320T>C (p.Ser774Pro)
c.2317T>C (p.Ser773Pro)
c.2290T>C (p.Ser764Pro)
c.2209T>C (p.Ser737Pro)
c.2194T>C (p.Ser732Pro)
c.1801T>C (p.Ser601Pro)
c.2263T>C (p.Ser755Pro)
c.2197T>C (p.Ser733Pro)
c.2155T>C (p.Ser719Pro)
c.1228T>C (p.Ser410Pro)
 gnomAD v4
20g.63407051A>TCA409638480KCNQ2c.2266T>A (p.Ser756Thr)
c.2212T>A (p.Ser738Thr)
c.1609T>A (p.Ser537Thr)
c.2119T>A (p.Ser707Thr)
c.1780T>A (p.Ser594Thr)
c.2128T>A (p.Ser710Thr)
c.2236T>A (p.Ser746Thr)
c.2200T>A (p.Ser734Thr)
c.2158T>A (p.Ser720Thr)
c.1680-6208T>A (n.1680-6208T>A)
c.2254T>A (p.Ser752Thr)
c.2320T>A (p.Ser774Thr)
c.2317T>A (p.Ser773Thr)
c.2290T>A (p.Ser764Thr)
c.2209T>A (p.Ser737Thr)
c.2194T>A (p.Ser732Thr)
c.1801T>A (p.Ser601Thr)
c.2263T>A (p.Ser755Thr)
c.2197T>A (p.Ser733Thr)
c.2155T>A (p.Ser719Thr)
c.1228T>A (p.Ser410Thr)
20g.63407052G>ACA511339480KCNQ2c.2265C>T (p.Gly755=)
c.2211C>T (p.Gly737=)
c.1608C>T (p.Gly536=)
c.2118C>T (p.Gly706=)
c.1779C>T (p.Gly593=)
c.2127C>T (p.Gly709=)
c.2235C>T (p.Gly745=)
c.2199C>T (p.Gly733=)
c.2157C>T (p.Gly719=)
c.1680-6209C>T (n.1680-6209C>T)
c.2253C>T (p.Gly751=)
c.2319C>T (p.Gly773=)
c.2316C>T (p.Gly772=)
c.2289C>T (p.Gly763=)
c.2208C>T (p.Gly736=)
c.2193C>T (p.Gly731=)
c.1800C>T (p.Gly600=)
c.2262C>T (p.Gly754=)
c.2196C>T (p.Gly732=)
c.2154C>T (p.Gly718=)
c.1227C>T (p.Gly409=)
20g.63407052G>CCA511339481KCNQ2c.2265C>G (p.Gly755=)
c.2211C>G (p.Gly737=)
c.1608C>G (p.Gly536=)
c.2118C>G (p.Gly706=)
c.1779C>G (p.Gly593=)
c.2127C>G (p.Gly709=)
c.2235C>G (p.Gly745=)
c.2199C>G (p.Gly733=)
c.2157C>G (p.Gly719=)
c.1680-6209C>G (n.1680-6209C>G)
c.2253C>G (p.Gly751=)
c.2319C>G (p.Gly773=)
c.2316C>G (p.Gly772=)
c.2289C>G (p.Gly763=)
c.2208C>G (p.Gly736=)
c.2193C>G (p.Gly731=)
c.1800C>G (p.Gly600=)
c.2262C>G (p.Gly754=)
c.2196C>G (p.Gly732=)
c.2154C>G (p.Gly718=)
c.1227C>G (p.Gly409=)
20g.63407052G>TCA511339482KCNQ2c.2265C>A (p.Gly755=)
c.2211C>A (p.Gly737=)
c.1608C>A (p.Gly536=)
c.2118C>A (p.Gly706=)
c.1779C>A (p.Gly593=)
c.2127C>A (p.Gly709=)
c.2235C>A (p.Gly745=)
c.2199C>A (p.Gly733=)
c.2157C>A (p.Gly719=)
c.1680-6209C>A (n.1680-6209C>A)
c.2253C>A (p.Gly751=)
c.2319C>A (p.Gly773=)
c.2316C>A (p.Gly772=)
c.2289C>A (p.Gly763=)
c.2208C>A (p.Gly736=)
c.2193C>A (p.Gly731=)
c.1800C>A (p.Gly600=)
c.2262C>A (p.Gly754=)
c.2196C>A (p.Gly732=)
c.2154C>A (p.Gly718=)
c.1227C>A (p.Gly409=)
 gnomAD v4
20g.63407059_63407082dupCA2653805403KCNQ2c.2242_2265dup (p.Gly755_Ser756insThrSerProValGlyAspHisGly)
c.2188_2211dup (p.Gly737_Ser738insThrSerProValGlyAspHisGly)
c.1585_1608dup (p.Gly536_Ser537insThrSerProValGlyAspHisGly)
c.2095_2118dup (p.Gly706_Ser707insThrSerProValGlyAspHisGly)
c.1756_1779dup (p.Gly593_Ser594insThrSerProValGlyAspHisGly)
c.2104_2127dup (p.Gly709_Ser710insThrSerProValGlyAspHisGly)
c.2212_2235dup (p.Gly745_Ser746insThrSerProValGlyAspHisGly)
c.2176_2199dup (p.Gly733_Ser734insThrSerProValGlyAspHisGly)
c.2134_2157dup (p.Gly719_Ser720insThrSerProValGlyAspHisGly)
c.1680-6232_1680-6209dup (n.1680-6232_1680-6209dup)
c.2230_2253dup (p.Gly751_Ser752insThrSerProValGlyAspHisGly)
c.2296_2319dup (p.Gly773_Ser774insThrSerProValGlyAspHisGly)
c.2293_2316dup (p.Gly772_Ser773insThrSerProValGlyAspHisGly)
c.2266_2289dup (p.Gly763_Ser764insThrSerProValGlyAspHisGly)
c.2185_2208dup (p.Gly736_Ser737insThrSerProValGlyAspHisGly)
c.2170_2193dup (p.Gly731_Ser732insThrSerProValGlyAspHisGly)
c.1777_1800dup (p.Gly600_Ser601insThrSerProValGlyAspHisGly)
c.2239_2262dup (p.Gly754_Ser755insThrSerProValGlyAspHisGly)
c.2173_2196dup (p.Gly732_Ser733insThrSerProValGlyAspHisGly)
c.2131_2154dup (p.Gly718_Ser719insThrSerProValGlyAspHisGly)
c.1204_1227dup (p.Gly409_Ser410insThrSerProValGlyAspHisGly)
 gnomAD v4
20g.63407053C>ACA9958123KCNQ2c.2264G>T (p.Gly755Val)
c.2210G>T (p.Gly737Val)
c.1607G>T (p.Gly536Val)
c.2117G>T (p.Gly706Val)
c.1778G>T (p.Gly593Val)
c.2126G>T (p.Gly709Val)
c.2234G>T (p.Gly745Val)
c.2198G>T (p.Gly733Val)
c.2156G>T (p.Gly719Val)
c.1680-6210G>T (n.1680-6210G>T)
c.2252G>T (p.Gly751Val)
c.2318G>T (p.Gly773Val)
c.2315G>T (p.Gly772Val)
c.2288G>T (p.Gly763Val)
c.2207G>T (p.Gly736Val)
c.2192G>T (p.Gly731Val)
c.1799G>T (p.Gly600Val)
c.2261G>T (p.Gly754Val)
c.2195G>T (p.Gly732Val)
c.2153G>T (p.Gly718Val)
c.1226G>T (p.Gly409Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407053C=CA2374774392KCNQ2c.2264G= (p.Gly755=)
c.2210G= (p.Gly737=)
c.1607G= (p.Gly536=)
c.2117G= (p.Gly706=)
c.1778G= (p.Gly593=)
c.2126G= (p.Gly709=)
c.2234G= (p.Gly745=)
c.2198G= (p.Gly733=)
c.2156G= (p.Gly719=)
c.1680-6210G= (n.1680-6210G=)
c.2252G= (p.Gly751=)
c.2318G= (p.Gly773=)
c.2315G= (p.Gly772=)
c.2288G= (p.Gly763=)
c.2207G= (p.Gly736=)
c.2192G= (p.Gly731=)
c.1799G= (p.Gly600=)
c.2261G= (p.Gly754=)
c.2195G= (p.Gly732=)
c.2153G= (p.Gly718=)
c.1226G= (p.Gly409=)
20g.63407053C>GCA409638488KCNQ2c.2264G>C (p.Gly755Ala)
c.2210G>C (p.Gly737Ala)
c.1607G>C (p.Gly536Ala)
c.2117G>C (p.Gly706Ala)
c.1778G>C (p.Gly593Ala)
c.2126G>C (p.Gly709Ala)
c.2234G>C (p.Gly745Ala)
c.2198G>C (p.Gly733Ala)
c.2156G>C (p.Gly719Ala)
c.1680-6210G>C (n.1680-6210G>C)
c.2252G>C (p.Gly751Ala)
c.2318G>C (p.Gly773Ala)
c.2315G>C (p.Gly772Ala)
c.2288G>C (p.Gly763Ala)
c.2207G>C (p.Gly736Ala)
c.2192G>C (p.Gly731Ala)
c.1799G>C (p.Gly600Ala)
c.2261G>C (p.Gly754Ala)
c.2195G>C (p.Gly732Ala)
c.2153G>C (p.Gly718Ala)
c.1226G>C (p.Gly409Ala)
20g.63407053C>TCA409638492KCNQ2c.2264G>A (p.Gly755Asp)
c.2210G>A (p.Gly737Asp)
c.1607G>A (p.Gly536Asp)
c.2117G>A (p.Gly706Asp)
c.1778G>A (p.Gly593Asp)
c.2126G>A (p.Gly709Asp)
c.2234G>A (p.Gly745Asp)
c.2198G>A (p.Gly733Asp)
c.2156G>A (p.Gly719Asp)
c.1680-6210G>A (n.1680-6210G>A)
c.2252G>A (p.Gly751Asp)
c.2318G>A (p.Gly773Asp)
c.2315G>A (p.Gly772Asp)
c.2288G>A (p.Gly763Asp)
c.2207G>A (p.Gly736Asp)
c.2192G>A (p.Gly731Asp)
c.1799G>A (p.Gly600Asp)
c.2261G>A (p.Gly754Asp)
c.2195G>A (p.Gly732Asp)
c.2153G>A (p.Gly718Asp)
c.1226G>A (p.Gly409Asp)
 ClinVar dbSNP gnomAD v4
20g.63407054C>ACA409638495KCNQ2c.2263G>T (p.Gly755Cys)
c.2209G>T (p.Gly737Cys)
c.1606G>T (p.Gly536Cys)
c.2116G>T (p.Gly706Cys)
c.1777G>T (p.Gly593Cys)
c.2125G>T (p.Gly709Cys)
c.2233G>T (p.Gly745Cys)
c.2197G>T (p.Gly733Cys)
c.2155G>T (p.Gly719Cys)
c.1680-6211G>T (n.1680-6211G>T)
c.2251G>T (p.Gly751Cys)
c.2317G>T (p.Gly773Cys)
c.2314G>T (p.Gly772Cys)
c.2287G>T (p.Gly763Cys)
c.2206G>T (p.Gly736Cys)
c.2191G>T (p.Gly731Cys)
c.1798G>T (p.Gly600Cys)
c.2260G>T (p.Gly754Cys)
c.2194G>T (p.Gly732Cys)
c.2152G>T (p.Gly718Cys)
c.1225G>T (p.Gly409Cys)
 gnomAD v4
20g.63407054C=CA2374774393KCNQ2c.2263G= (p.Gly755=)
c.2209G= (p.Gly737=)
c.1606G= (p.Gly536=)
c.2116G= (p.Gly706=)
c.1777G= (p.Gly593=)
c.2125G= (p.Gly709=)
c.2233G= (p.Gly745=)
c.2197G= (p.Gly733=)
c.2155G= (p.Gly719=)
c.1680-6211G= (n.1680-6211G=)
c.2251G= (p.Gly751=)
c.2317G= (p.Gly773=)
c.2314G= (p.Gly772=)
c.2287G= (p.Gly763=)
c.2206G= (p.Gly736=)
c.2191G= (p.Gly731=)
c.1798G= (p.Gly600=)
c.2260G= (p.Gly754=)
c.2194G= (p.Gly732=)
c.2152G= (p.Gly718=)
c.1225G= (p.Gly409=)
20g.63407054C>GCA409638498KCNQ2c.2263G>C (p.Gly755Arg)
c.2209G>C (p.Gly737Arg)
c.1606G>C (p.Gly536Arg)
c.2116G>C (p.Gly706Arg)
c.1777G>C (p.Gly593Arg)
c.2125G>C (p.Gly709Arg)
c.2233G>C (p.Gly745Arg)
c.2197G>C (p.Gly733Arg)
c.2155G>C (p.Gly719Arg)
c.1680-6211G>C (n.1680-6211G>C)
c.2251G>C (p.Gly751Arg)
c.2317G>C (p.Gly773Arg)
c.2314G>C (p.Gly772Arg)
c.2287G>C (p.Gly763Arg)
c.2206G>C (p.Gly736Arg)
c.2191G>C (p.Gly731Arg)
c.1798G>C (p.Gly600Arg)
c.2260G>C (p.Gly754Arg)
c.2194G>C (p.Gly732Arg)
c.2152G>C (p.Gly718Arg)
c.1225G>C (p.Gly409Arg)
20g.63407054C>TCA9958124KCNQ2c.2263G>A (p.Gly755Ser)
c.2209G>A (p.Gly737Ser)
c.1606G>A (p.Gly536Ser)
c.2116G>A (p.Gly706Ser)
c.1777G>A (p.Gly593Ser)
c.2125G>A (p.Gly709Ser)
c.2233G>A (p.Gly745Ser)
c.2197G>A (p.Gly733Ser)
c.2155G>A (p.Gly719Ser)
c.1680-6211G>A (n.1680-6211G>A)
c.2251G>A (p.Gly751Ser)
c.2317G>A (p.Gly773Ser)
c.2314G>A (p.Gly772Ser)
c.2287G>A (p.Gly763Ser)
c.2206G>A (p.Gly736Ser)
c.2191G>A (p.Gly731Ser)
c.1798G>A (p.Gly600Ser)
c.2260G>A (p.Gly754Ser)
c.2194G>A (p.Gly732Ser)
c.2152G>A (p.Gly718Ser)
c.1225G>A (p.Gly409Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407055G>ACA9958125KCNQ2c.2262C>T (p.His754=)
c.2208C>T (p.His736=)
c.1605C>T (p.His535=)
c.2115C>T (p.His705=)
c.1776C>T (p.His592=)
c.2124C>T (p.His708=)
c.2232C>T (p.His744=)
c.2196C>T (p.His732=)
c.2154C>T (p.His718=)
c.1680-6212C>T (n.1680-6212C>T)
c.2250C>T (p.His750=)
c.2316C>T (p.His772=)
c.2313C>T (p.His771=)
c.2286C>T (p.His762=)
c.2205C>T (p.His735=)
c.2190C>T (p.His730=)
c.1797C>T (p.His599=)
c.2259C>T (p.His753=)
c.2193C>T (p.His731=)
c.2151C>T (p.His717=)
c.1224C>T (p.His408=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407055G>CCA409638509KCNQ2c.2262C>G (p.His754Gln)
c.2208C>G (p.His736Gln)
c.1605C>G (p.His535Gln)
c.2115C>G (p.His705Gln)
c.1776C>G (p.His592Gln)
c.2124C>G (p.His708Gln)
c.2232C>G (p.His744Gln)
c.2196C>G (p.His732Gln)
c.2154C>G (p.His718Gln)
c.1680-6212C>G (n.1680-6212C>G)
c.2250C>G (p.His750Gln)
c.2316C>G (p.His772Gln)
c.2313C>G (p.His771Gln)
c.2286C>G (p.His762Gln)
c.2205C>G (p.His735Gln)
c.2190C>G (p.His730Gln)
c.1797C>G (p.His599Gln)
c.2259C>G (p.His753Gln)
c.2193C>G (p.His731Gln)
c.2151C>G (p.His717Gln)
c.1224C>G (p.His408Gln)
20g.63407055G=CA2374774394KCNQ2c.2262C= (p.His754=)
c.2208C= (p.His736=)
c.1605C= (p.His535=)
c.2115C= (p.His705=)
c.1776C= (p.His592=)
c.2124C= (p.His708=)
c.2232C= (p.His744=)
c.2196C= (p.His732=)
c.2154C= (p.His718=)
c.1680-6212C= (n.1680-6212C=)
c.2250C= (p.His750=)
c.2316C= (p.His772=)
c.2313C= (p.His771=)
c.2286C= (p.His762=)
c.2205C= (p.His735=)
c.2190C= (p.His730=)
c.1797C= (p.His599=)
c.2259C= (p.His753=)
c.2193C= (p.His731=)
c.2151C= (p.His717=)
c.1224C= (p.His408=)
20g.63407055G>TCA409638512KCNQ2c.2262C>A (p.His754Gln)
c.2208C>A (p.His736Gln)
c.1605C>A (p.His535Gln)
c.2115C>A (p.His705Gln)
c.1776C>A (p.His592Gln)
c.2124C>A (p.His708Gln)
c.2232C>A (p.His744Gln)
c.2196C>A (p.His732Gln)
c.2154C>A (p.His718Gln)
c.1680-6212C>A (n.1680-6212C>A)
c.2250C>A (p.His750Gln)
c.2316C>A (p.His772Gln)
c.2313C>A (p.His771Gln)
c.2286C>A (p.His762Gln)
c.2205C>A (p.His735Gln)
c.2190C>A (p.His730Gln)
c.1797C>A (p.His599Gln)
c.2259C>A (p.His753Gln)
c.2193C>A (p.His731Gln)
c.2151C>A (p.His717Gln)
c.1224C>A (p.His408Gln)
 dbSNP gnomAD v2 gnomAD v4
20g.63407056T>ACA409638515KCNQ2c.2261A>T (p.His754Leu)
c.2207A>T (p.His736Leu)
c.1604A>T (p.His535Leu)
c.2114A>T (p.His705Leu)
c.1775A>T (p.His592Leu)
c.2123A>T (p.His708Leu)
c.2231A>T (p.His744Leu)
c.2195A>T (p.His732Leu)
c.2153A>T (p.His718Leu)
c.1680-6213A>T (n.1680-6213A>T)
c.2249A>T (p.His750Leu)
c.2315A>T (p.His772Leu)
c.2312A>T (p.His771Leu)
c.2285A>T (p.His762Leu)
c.2204A>T (p.His735Leu)
c.2189A>T (p.His730Leu)
c.1796A>T (p.His599Leu)
c.2258A>T (p.His753Leu)
c.2192A>T (p.His731Leu)
c.2150A>T (p.His717Leu)
c.1223A>T (p.His408Leu)
20g.63407056T>CCA409638517KCNQ2c.2261A>G (p.His754Arg)
c.2207A>G (p.His736Arg)
c.1604A>G (p.His535Arg)
c.2114A>G (p.His705Arg)
c.1775A>G (p.His592Arg)
c.2123A>G (p.His708Arg)
c.2231A>G (p.His744Arg)
c.2195A>G (p.His732Arg)
c.2153A>G (p.His718Arg)
c.1680-6213A>G (n.1680-6213A>G)
c.2249A>G (p.His750Arg)
c.2315A>G (p.His772Arg)
c.2312A>G (p.His771Arg)
c.2285A>G (p.His762Arg)
c.2204A>G (p.His735Arg)
c.2189A>G (p.His730Arg)
c.1796A>G (p.His599Arg)
c.2258A>G (p.His753Arg)
c.2192A>G (p.His731Arg)
c.2150A>G (p.His717Arg)
c.1223A>G (p.His408Arg)
 gnomAD v4
20g.63407056T>GCA409638519KCNQ2c.2261A>C (p.His754Pro)
c.2207A>C (p.His736Pro)
c.1604A>C (p.His535Pro)
c.2114A>C (p.His705Pro)
c.1775A>C (p.His592Pro)
c.2123A>C (p.His708Pro)
c.2231A>C (p.His744Pro)
c.2195A>C (p.His732Pro)
c.2153A>C (p.His718Pro)
c.1680-6213A>C (n.1680-6213A>C)
c.2249A>C (p.His750Pro)
c.2315A>C (p.His772Pro)
c.2312A>C (p.His771Pro)
c.2285A>C (p.His762Pro)
c.2204A>C (p.His735Pro)
c.2189A>C (p.His730Pro)
c.1796A>C (p.His599Pro)
c.2258A>C (p.His753Pro)
c.2192A>C (p.His731Pro)
c.2150A>C (p.His717Pro)
c.1223A>C (p.His408Pro)
20g.63407057G>ACA409638526KCNQ2c.2260C>T (p.His754Tyr)
c.2206C>T (p.His736Tyr)
c.1603C>T (p.His535Tyr)
c.2113C>T (p.His705Tyr)
c.1774C>T (p.His592Tyr)
c.2122C>T (p.His708Tyr)
c.2230C>T (p.His744Tyr)
c.2194C>T (p.His732Tyr)
c.2152C>T (p.His718Tyr)
c.1680-6214C>T (n.1680-6214C>T)
c.2248C>T (p.His750Tyr)
c.2314C>T (p.His772Tyr)
c.2311C>T (p.His771Tyr)
c.2284C>T (p.His762Tyr)
c.2203C>T (p.His735Tyr)
c.2188C>T (p.His730Tyr)
c.1795C>T (p.His599Tyr)
c.2257C>T (p.His753Tyr)
c.2191C>T (p.His731Tyr)
c.2149C>T (p.His717Tyr)
c.1222C>T (p.His408Tyr)
 gnomAD v4
20g.63407057G>CCA409638523KCNQ2c.2260C>G (p.His754Asp)
c.2206C>G (p.His736Asp)
c.1603C>G (p.His535Asp)
c.2113C>G (p.His705Asp)
c.1774C>G (p.His592Asp)
c.2122C>G (p.His708Asp)
c.2230C>G (p.His744Asp)
c.2194C>G (p.His732Asp)
c.2152C>G (p.His718Asp)
c.1680-6214C>G (n.1680-6214C>G)
c.2248C>G (p.His750Asp)
c.2314C>G (p.His772Asp)
c.2311C>G (p.His771Asp)
c.2284C>G (p.His762Asp)
c.2203C>G (p.His735Asp)
c.2188C>G (p.His730Asp)
c.1795C>G (p.His599Asp)
c.2257C>G (p.His753Asp)
c.2191C>G (p.His731Asp)
c.2149C>G (p.His717Asp)
c.1222C>G (p.His408Asp)
20g.63407057G>TCA409638525KCNQ2c.2260C>A (p.His754Asn)
c.2206C>A (p.His736Asn)
c.1603C>A (p.His535Asn)
c.2113C>A (p.His705Asn)
c.1774C>A (p.His592Asn)
c.2122C>A (p.His708Asn)
c.2230C>A (p.His744Asn)
c.2194C>A (p.His732Asn)
c.2152C>A (p.His718Asn)
c.1680-6214C>A (n.1680-6214C>A)
c.2248C>A (p.His750Asn)
c.2314C>A (p.His772Asn)
c.2311C>A (p.His771Asn)
c.2284C>A (p.His762Asn)
c.2203C>A (p.His735Asn)
c.2188C>A (p.His730Asn)
c.1795C>A (p.His599Asn)
c.2257C>A (p.His753Asn)
c.2191C>A (p.His731Asn)
c.2149C>A (p.His717Asn)
c.1222C>A (p.His408Asn)
 gnomAD v4
20g.63407058G>ACA511339483KCNQ2c.2259C>T (p.Asp753=)
c.2205C>T (p.Asp735=)
c.1602C>T (p.Asp534=)
c.2112C>T (p.Asp704=)
c.1773C>T (p.Asp591=)
c.2121C>T (p.Asp707=)
c.2229C>T (p.Asp743=)
c.2193C>T (p.Asp731=)
c.2151C>T (p.Asp717=)
c.1680-6215C>T (n.1680-6215C>T)
c.2247C>T (p.Asp749=)
c.2313C>T (p.Asp771=)
c.2310C>T (p.Asp770=)
c.2283C>T (p.Asp761=)
c.2202C>T (p.Asp734=)
c.2187C>T (p.Asp729=)
c.1794C>T (p.Asp598=)
c.2256C>T (p.Asp752=)
c.2190C>T (p.Asp730=)
c.2148C>T (p.Asp716=)
c.1221C>T (p.Asp407=)
 gnomAD v4
20g.63407058G>CCA409638530KCNQ2c.2259C>G (p.Asp753Glu)
c.2205C>G (p.Asp735Glu)
c.1602C>G (p.Asp534Glu)
c.2112C>G (p.Asp704Glu)
c.1773C>G (p.Asp591Glu)
c.2121C>G (p.Asp707Glu)
c.2229C>G (p.Asp743Glu)
c.2193C>G (p.Asp731Glu)
c.2151C>G (p.Asp717Glu)
c.1680-6215C>G (n.1680-6215C>G)
c.2247C>G (p.Asp749Glu)
c.2313C>G (p.Asp771Glu)
c.2310C>G (p.Asp770Glu)
c.2283C>G (p.Asp761Glu)
c.2202C>G (p.Asp734Glu)
c.2187C>G (p.Asp729Glu)
c.1794C>G (p.Asp598Glu)
c.2256C>G (p.Asp752Glu)
c.2190C>G (p.Asp730Glu)
c.2148C>G (p.Asp716Glu)
c.1221C>G (p.Asp407Glu)
20g.63407058G>TCA409638533KCNQ2c.2259C>A (p.Asp753Glu)
c.2205C>A (p.Asp735Glu)
c.1602C>A (p.Asp534Glu)
c.2112C>A (p.Asp704Glu)
c.1773C>A (p.Asp591Glu)
c.2121C>A (p.Asp707Glu)
c.2229C>A (p.Asp743Glu)
c.2193C>A (p.Asp731Glu)
c.2151C>A (p.Asp717Glu)
c.1680-6215C>A (n.1680-6215C>A)
c.2247C>A (p.Asp749Glu)
c.2313C>A (p.Asp771Glu)
c.2310C>A (p.Asp770Glu)
c.2283C>A (p.Asp761Glu)
c.2202C>A (p.Asp734Glu)
c.2187C>A (p.Asp729Glu)
c.1794C>A (p.Asp598Glu)
c.2256C>A (p.Asp752Glu)
c.2190C>A (p.Asp730Glu)
c.2148C>A (p.Asp716Glu)
c.1221C>A (p.Asp407Glu)
 gnomAD v4
20g.63407059delCA2573157301KCNQ2c.2258del (p.Asp753AlafsTer?)
c.2204del (p.Asp735AlafsTer?)
c.1601del (p.Asp534AlafsTer?)
c.2111del (p.Asp704AlafsTer?)
c.1772del (p.Asp591AlafsTer?)
c.2120del (p.Asp707AlafsTer?)
c.2228del (p.Asp743AlafsTer?)
c.2192del (p.Asp731AlafsTer?)
c.2150del (p.Asp717AlafsTer?)
c.1680-6216del (n.1680-6216del)
c.2246del (p.Asp749AlafsTer?)
c.2312del (p.Asp771AlafsTer?)
c.2309del (p.Asp770AlafsTer?)
c.2282del (p.Asp761AlafsTer?)
c.2201del (p.Asp734AlafsTer?)
c.2186del (p.Asp729AlafsTer?)
c.1793del (p.Asp598AlafsTer?)
c.2255del (p.Asp752AlafsTer?)
c.2189del (p.Asp730AlafsTer?)
c.2147del (p.Asp716AlafsTer?)
c.1220del (p.Asp407AlafsTer?)
 ClinVar dbSNP
20g.63407059T>ACA409638535KCNQ2c.2258A>T (p.Asp753Val)
c.2204A>T (p.Asp735Val)
c.1601A>T (p.Asp534Val)
c.2111A>T (p.Asp704Val)
c.1772A>T (p.Asp591Val)
c.2120A>T (p.Asp707Val)
c.2228A>T (p.Asp743Val)
c.2192A>T (p.Asp731Val)
c.2150A>T (p.Asp717Val)
c.1680-6216A>T (n.1680-6216A>T)
c.2246A>T (p.Asp749Val)
c.2312A>T (p.Asp771Val)
c.2309A>T (p.Asp770Val)
c.2282A>T (p.Asp761Val)
c.2201A>T (p.Asp734Val)
c.2186A>T (p.Asp729Val)
c.1793A>T (p.Asp598Val)
c.2255A>T (p.Asp752Val)
c.2189A>T (p.Asp730Val)
c.2147A>T (p.Asp716Val)
c.1220A>T (p.Asp407Val)
20g.63407059T>CCA409638538KCNQ2c.2258A>G (p.Asp753Gly)
c.2204A>G (p.Asp735Gly)
c.1601A>G (p.Asp534Gly)
c.2111A>G (p.Asp704Gly)
c.1772A>G (p.Asp591Gly)
c.2120A>G (p.Asp707Gly)
c.2228A>G (p.Asp743Gly)
c.2192A>G (p.Asp731Gly)
c.2150A>G (p.Asp717Gly)
c.1680-6216A>G (n.1680-6216A>G)
c.2246A>G (p.Asp749Gly)
c.2312A>G (p.Asp771Gly)
c.2309A>G (p.Asp770Gly)
c.2282A>G (p.Asp761Gly)
c.2201A>G (p.Asp734Gly)
c.2186A>G (p.Asp729Gly)
c.1793A>G (p.Asp598Gly)
c.2255A>G (p.Asp752Gly)
c.2189A>G (p.Asp730Gly)
c.2147A>G (p.Asp716Gly)
c.1220A>G (p.Asp407Gly)
 ClinVar dbSNP gnomAD v4
20g.63407059T>GCA9958126KCNQ2c.2258A>C (p.Asp753Ala)
c.2204A>C (p.Asp735Ala)
c.1601A>C (p.Asp534Ala)
c.2111A>C (p.Asp704Ala)
c.1772A>C (p.Asp591Ala)
c.2120A>C (p.Asp707Ala)
c.2228A>C (p.Asp743Ala)
c.2192A>C (p.Asp731Ala)
c.2150A>C (p.Asp717Ala)
c.1680-6216A>C (n.1680-6216A>C)
c.2246A>C (p.Asp749Ala)
c.2312A>C (p.Asp771Ala)
c.2309A>C (p.Asp770Ala)
c.2282A>C (p.Asp761Ala)
c.2201A>C (p.Asp734Ala)
c.2186A>C (p.Asp729Ala)
c.1793A>C (p.Asp598Ala)
c.2255A>C (p.Asp752Ala)
c.2189A>C (p.Asp730Ala)
c.2147A>C (p.Asp716Ala)
c.1220A>C (p.Asp407Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407059T=CA2374774395KCNQ2c.2258A= (p.Asp753=)
c.2204A= (p.Asp735=)
c.1601A= (p.Asp534=)
c.2111A= (p.Asp704=)
c.1772A= (p.Asp591=)
c.2120A= (p.Asp707=)
c.2228A= (p.Asp743=)
c.2192A= (p.Asp731=)
c.2150A= (p.Asp717=)
c.1680-6216A= (n.1680-6216A=)
c.2246A= (p.Asp749=)
c.2312A= (p.Asp771=)
c.2309A= (p.Asp770=)
c.2282A= (p.Asp761=)
c.2201A= (p.Asp734=)
c.2186A= (p.Asp729=)
c.1793A= (p.Asp598=)
c.2255A= (p.Asp752=)
c.2189A= (p.Asp730=)
c.2147A= (p.Asp716=)
c.1220A= (p.Asp407=)
20g.63407060C>ACA409638542KCNQ2c.2257G>T (p.Asp753Tyr)
c.2203G>T (p.Asp735Tyr)
c.1600G>T (p.Asp534Tyr)
c.2110G>T (p.Asp704Tyr)
c.1771G>T (p.Asp591Tyr)
c.2119G>T (p.Asp707Tyr)
c.2227G>T (p.Asp743Tyr)
c.2191G>T (p.Asp731Tyr)
c.2149G>T (p.Asp717Tyr)
c.1680-6217G>T (n.1680-6217G>T)
c.2245G>T (p.Asp749Tyr)
c.2311G>T (p.Asp771Tyr)
c.2308G>T (p.Asp770Tyr)
c.2281G>T (p.Asp761Tyr)
c.2200G>T (p.Asp734Tyr)
c.2185G>T (p.Asp729Tyr)
c.1792G>T (p.Asp598Tyr)
c.2254G>T (p.Asp752Tyr)
c.2188G>T (p.Asp730Tyr)
c.2146G>T (p.Asp716Tyr)
c.1219G>T (p.Asp407Tyr)
 ClinVar gnomAD v4
20g.63407060C=CA2374774396KCNQ2c.2257G= (p.Asp753=)
c.2203G= (p.Asp735=)
c.1600G= (p.Asp534=)
c.2110G= (p.Asp704=)
c.1771G= (p.Asp591=)
c.2119G= (p.Asp707=)
c.2227G= (p.Asp743=)
c.2191G= (p.Asp731=)
c.2149G= (p.Asp717=)
c.1680-6217G= (n.1680-6217G=)
c.2245G= (p.Asp749=)
c.2311G= (p.Asp771=)
c.2308G= (p.Asp770=)
c.2281G= (p.Asp761=)
c.2200G= (p.Asp734=)
c.2185G= (p.Asp729=)
c.1792G= (p.Asp598=)
c.2254G= (p.Asp752=)
c.2188G= (p.Asp730=)
c.2146G= (p.Asp716=)
c.1219G= (p.Asp407=)
20g.63407060C>GCA409638545KCNQ2c.2257G>C (p.Asp753His)
c.2203G>C (p.Asp735His)
c.1600G>C (p.Asp534His)
c.2110G>C (p.Asp704His)
c.1771G>C (p.Asp591His)
c.2119G>C (p.Asp707His)
c.2227G>C (p.Asp743His)
c.2191G>C (p.Asp731His)
c.2149G>C (p.Asp717His)
c.1680-6217G>C (n.1680-6217G>C)
c.2245G>C (p.Asp749His)
c.2311G>C (p.Asp771His)
c.2308G>C (p.Asp770His)
c.2281G>C (p.Asp761His)
c.2200G>C (p.Asp734His)
c.2185G>C (p.Asp729His)
c.1792G>C (p.Asp598His)
c.2254G>C (p.Asp752His)
c.2188G>C (p.Asp730His)
c.2146G>C (p.Asp716His)
c.1219G>C (p.Asp407His)
20g.63407060C>TCA409638548KCNQ2c.2257G>A (p.Asp753Asn)
c.2203G>A (p.Asp735Asn)
c.1600G>A (p.Asp534Asn)
c.2110G>A (p.Asp704Asn)
c.1771G>A (p.Asp591Asn)
c.2119G>A (p.Asp707Asn)
c.2227G>A (p.Asp743Asn)
c.2191G>A (p.Asp731Asn)
c.2149G>A (p.Asp717Asn)
c.1680-6217G>A (n.1680-6217G>A)
c.2245G>A (p.Asp749Asn)
c.2311G>A (p.Asp771Asn)
c.2308G>A (p.Asp770Asn)
c.2281G>A (p.Asp761Asn)
c.2200G>A (p.Asp734Asn)
c.2185G>A (p.Asp729Asn)
c.1792G>A (p.Asp598Asn)
c.2254G>A (p.Asp752Asn)
c.2188G>A (p.Asp730Asn)
c.2146G>A (p.Asp716Asn)
c.1219G>A (p.Asp407Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407064delCA2653805408KCNQ2c.2257del (p.Asp753ThrfsTer?)
c.2203del (p.Asp735ThrfsTer?)
c.1600del (p.Asp534ThrfsTer?)
c.2110del (p.Asp704ThrfsTer?)
c.1771del (p.Asp591ThrfsTer?)
c.2119del (p.Asp707ThrfsTer?)
c.2227del (p.Asp743ThrfsTer?)
c.2191del (p.Asp731ThrfsTer?)
c.2149del (p.Asp717ThrfsTer?)
c.1680-6217del (n.1680-6217del)
c.2245del (p.Asp749ThrfsTer?)
c.2311del (p.Asp771ThrfsTer?)
c.2308del (p.Asp770ThrfsTer?)
c.2281del (p.Asp761ThrfsTer?)
c.2200del (p.Asp734ThrfsTer?)
c.2185del (p.Asp729ThrfsTer?)
c.1792del (p.Asp598ThrfsTer?)
c.2254del (p.Asp752ThrfsTer?)
c.2188del (p.Asp730ThrfsTer?)
c.2146del (p.Asp716ThrfsTer?)
c.1219del (p.Asp407ThrfsTer?)
 gnomAD v4
20g.63407061C>ACA511339484KCNQ2c.2256G>T (p.Gly752=)
c.2202G>T (p.Gly734=)
c.1599G>T (p.Gly533=)
c.2109G>T (p.Gly703=)
c.1770G>T (p.Gly590=)
c.2118G>T (p.Gly706=)
c.2226G>T (p.Gly742=)
c.2190G>T (p.Gly730=)
c.2148G>T (p.Gly716=)
c.1680-6218G>T (n.1680-6218G>T)
c.2244G>T (p.Gly748=)
c.2310G>T (p.Gly770=)
c.2307G>T (p.Gly769=)
c.2280G>T (p.Gly760=)
c.2199G>T (p.Gly733=)
c.2184G>T (p.Gly728=)
c.1791G>T (p.Gly597=)
c.2253G>T (p.Gly751=)
c.2187G>T (p.Gly729=)
c.2145G>T (p.Gly715=)
c.1218G>T (p.Gly406=)
 gnomAD v4
20g.63407061C>GCA511339485KCNQ2c.2256G>C (p.Gly752=)
c.2202G>C (p.Gly734=)
c.1599G>C (p.Gly533=)
c.2109G>C (p.Gly703=)
c.1770G>C (p.Gly590=)
c.2118G>C (p.Gly706=)
c.2226G>C (p.Gly742=)
c.2190G>C (p.Gly730=)
c.2148G>C (p.Gly716=)
c.1680-6218G>C (n.1680-6218G>C)
c.2244G>C (p.Gly748=)
c.2310G>C (p.Gly770=)
c.2307G>C (p.Gly769=)
c.2280G>C (p.Gly760=)
c.2199G>C (p.Gly733=)
c.2184G>C (p.Gly728=)
c.1791G>C (p.Gly597=)
c.2253G>C (p.Gly751=)
c.2187G>C (p.Gly729=)
c.2145G>C (p.Gly715=)
c.1218G>C (p.Gly406=)
20g.63407061C>TCA511339486KCNQ2c.2256G>A (p.Gly752=)
c.2202G>A (p.Gly734=)
c.1599G>A (p.Gly533=)
c.2109G>A (p.Gly703=)
c.1770G>A (p.Gly590=)
c.2118G>A (p.Gly706=)
c.2226G>A (p.Gly742=)
c.2190G>A (p.Gly730=)
c.2148G>A (p.Gly716=)
c.1680-6218G>A (n.1680-6218G>A)
c.2244G>A (p.Gly748=)
c.2310G>A (p.Gly770=)
c.2307G>A (p.Gly769=)
c.2280G>A (p.Gly760=)
c.2199G>A (p.Gly733=)
c.2184G>A (p.Gly728=)
c.1791G>A (p.Gly597=)
c.2253G>A (p.Gly751=)
c.2187G>A (p.Gly729=)
c.2145G>A (p.Gly715=)
c.1218G>A (p.Gly406=)
20g.63407062C>ACA409638551KCNQ2c.2255G>T (p.Gly752Val)
c.2201G>T (p.Gly734Val)
c.1598G>T (p.Gly533Val)
c.2108G>T (p.Gly703Val)
c.1769G>T (p.Gly590Val)
c.2117G>T (p.Gly706Val)
c.2225G>T (p.Gly742Val)
c.2189G>T (p.Gly730Val)
c.2147G>T (p.Gly716Val)
c.1680-6219G>T (n.1680-6219G>T)
c.2243G>T (p.Gly748Val)
c.2309G>T (p.Gly770Val)
c.2306G>T (p.Gly769Val)
c.2279G>T (p.Gly760Val)
c.2198G>T (p.Gly733Val)
c.2183G>T (p.Gly728Val)
c.1790G>T (p.Gly597Val)
c.2252G>T (p.Gly751Val)
c.2186G>T (p.Gly729Val)
c.2144G>T (p.Gly715Val)
c.1217G>T (p.Gly406Val)
 gnomAD v4
20g.63407062C=CA2374774397KCNQ2c.2255G= (p.Gly752=)
c.2201G= (p.Gly734=)
c.1598G= (p.Gly533=)
c.2108G= (p.Gly703=)
c.1769G= (p.Gly590=)
c.2117G= (p.Gly706=)
c.2225G= (p.Gly742=)
c.2189G= (p.Gly730=)
c.2147G= (p.Gly716=)
c.1680-6219G= (n.1680-6219G=)
c.2243G= (p.Gly748=)
c.2309G= (p.Gly770=)
c.2306G= (p.Gly769=)
c.2279G= (p.Gly760=)
c.2198G= (p.Gly733=)
c.2183G= (p.Gly728=)
c.1790G= (p.Gly597=)
c.2252G= (p.Gly751=)
c.2186G= (p.Gly729=)
c.2144G= (p.Gly715=)
c.1217G= (p.Gly406=)
20g.63407062C>GCA409638553KCNQ2c.2255G>C (p.Gly752Ala)
c.2201G>C (p.Gly734Ala)
c.1598G>C (p.Gly533Ala)
c.2108G>C (p.Gly703Ala)
c.1769G>C (p.Gly590Ala)
c.2117G>C (p.Gly706Ala)
c.2225G>C (p.Gly742Ala)
c.2189G>C (p.Gly730Ala)
c.2147G>C (p.Gly716Ala)
c.1680-6219G>C (n.1680-6219G>C)
c.2243G>C (p.Gly748Ala)
c.2309G>C (p.Gly770Ala)
c.2306G>C (p.Gly769Ala)
c.2279G>C (p.Gly760Ala)
c.2198G>C (p.Gly733Ala)
c.2183G>C (p.Gly728Ala)
c.1790G>C (p.Gly597Ala)
c.2252G>C (p.Gly751Ala)
c.2186G>C (p.Gly729Ala)
c.2144G>C (p.Gly715Ala)
c.1217G>C (p.Gly406Ala)
20g.63407062C>TCA409638556KCNQ2c.2255G>A (p.Gly752Glu)
c.2201G>A (p.Gly734Glu)
c.1598G>A (p.Gly533Glu)
c.2108G>A (p.Gly703Glu)
c.1769G>A (p.Gly590Glu)
c.2117G>A (p.Gly706Glu)
c.2225G>A (p.Gly742Glu)
c.2189G>A (p.Gly730Glu)
c.2147G>A (p.Gly716Glu)
c.1680-6219G>A (n.1680-6219G>A)
c.2243G>A (p.Gly748Glu)
c.2309G>A (p.Gly770Glu)
c.2306G>A (p.Gly769Glu)
c.2279G>A (p.Gly760Glu)
c.2198G>A (p.Gly733Glu)
c.2183G>A (p.Gly728Glu)
c.1790G>A (p.Gly597Glu)
c.2252G>A (p.Gly751Glu)
c.2186G>A (p.Gly729Glu)
c.2144G>A (p.Gly715Glu)
c.1217G>A (p.Gly406Glu)
 dbSNP gnomAD v2 gnomAD v4
20g.63407063C>ACA409638565KCNQ2c.2254G>T (p.Gly752Trp)
c.2200G>T (p.Gly734Trp)
c.1597G>T (p.Gly533Trp)
c.2107G>T (p.Gly703Trp)
c.1768G>T (p.Gly590Trp)
c.2116G>T (p.Gly706Trp)
c.2224G>T (p.Gly742Trp)
c.2188G>T (p.Gly730Trp)
c.2146G>T (p.Gly716Trp)
c.1680-6220G>T (n.1680-6220G>T)
c.2242G>T (p.Gly748Trp)
c.2308G>T (p.Gly770Trp)
c.2305G>T (p.Gly769Trp)
c.2278G>T (p.Gly760Trp)
c.2197G>T (p.Gly733Trp)
c.2182G>T (p.Gly728Trp)
c.1789G>T (p.Gly597Trp)
c.2251G>T (p.Gly751Trp)
c.2185G>T (p.Gly729Trp)
c.2143G>T (p.Gly715Trp)
c.1216G>T (p.Gly406Trp)
20g.63407063C=CA2374774398KCNQ2c.2254G= (p.Gly752=)
c.2200G= (p.Gly734=)
c.1597G= (p.Gly533=)
c.2107G= (p.Gly703=)
c.1768G= (p.Gly590=)
c.2116G= (p.Gly706=)
c.2224G= (p.Gly742=)
c.2188G= (p.Gly730=)
c.2146G= (p.Gly716=)
c.1680-6220G= (n.1680-6220G=)
c.2242G= (p.Gly748=)
c.2308G= (p.Gly770=)
c.2305G= (p.Gly769=)
c.2278G= (p.Gly760=)
c.2197G= (p.Gly733=)
c.2182G= (p.Gly728=)
c.1789G= (p.Gly597=)
c.2251G= (p.Gly751=)
c.2185G= (p.Gly729=)
c.2143G= (p.Gly715=)
c.1216G= (p.Gly406=)
20g.63407063C>GCA409638562KCNQ2c.2254G>C (p.Gly752Arg)
c.2200G>C (p.Gly734Arg)
c.1597G>C (p.Gly533Arg)
c.2107G>C (p.Gly703Arg)
c.1768G>C (p.Gly590Arg)
c.2116G>C (p.Gly706Arg)
c.2224G>C (p.Gly742Arg)
c.2188G>C (p.Gly730Arg)
c.2146G>C (p.Gly716Arg)
c.1680-6220G>C (n.1680-6220G>C)
c.2242G>C (p.Gly748Arg)
c.2308G>C (p.Gly770Arg)
c.2305G>C (p.Gly769Arg)
c.2278G>C (p.Gly760Arg)
c.2197G>C (p.Gly733Arg)
c.2182G>C (p.Gly728Arg)
c.1789G>C (p.Gly597Arg)
c.2251G>C (p.Gly751Arg)
c.2185G>C (p.Gly729Arg)
c.2143G>C (p.Gly715Arg)
c.1216G>C (p.Gly406Arg)
 dbSNP gnomAD v2
20g.63407063C>TCA409638559KCNQ2c.2254G>A (p.Gly752Arg)
c.2200G>A (p.Gly734Arg)
c.1597G>A (p.Gly533Arg)
c.2107G>A (p.Gly703Arg)
c.1768G>A (p.Gly590Arg)
c.2116G>A (p.Gly706Arg)
c.2224G>A (p.Gly742Arg)
c.2188G>A (p.Gly730Arg)
c.2146G>A (p.Gly716Arg)
c.1680-6220G>A (n.1680-6220G>A)
c.2242G>A (p.Gly748Arg)
c.2308G>A (p.Gly770Arg)
c.2305G>A (p.Gly769Arg)
c.2278G>A (p.Gly760Arg)
c.2197G>A (p.Gly733Arg)
c.2182G>A (p.Gly728Arg)
c.1789G>A (p.Gly597Arg)
c.2251G>A (p.Gly751Arg)
c.2185G>A (p.Gly729Arg)
c.2143G>A (p.Gly715Arg)
c.1216G>A (p.Gly406Arg)
 ClinVar
20g.63407064C>ACA511339487KCNQ2c.2253G>T (p.Val751=)
c.2199G>T (p.Val733=)
c.1596G>T (p.Val532=)
c.2106G>T (p.Val702=)
c.1767G>T (p.Val589=)
c.2115G>T (p.Val705=)
c.2223G>T (p.Val741=)
c.2187G>T (p.Val729=)
c.2145G>T (p.Val715=)
c.1680-6221G>T (n.1680-6221G>T)
c.2241G>T (p.Val747=)
c.2307G>T (p.Val769=)
c.2304G>T (p.Val768=)
c.2277G>T (p.Val759=)
c.2196G>T (p.Val732=)
c.2181G>T (p.Val727=)
c.1788G>T (p.Val596=)
c.2250G>T (p.Val750=)
c.2184G>T (p.Val728=)
c.2142G>T (p.Val714=)
c.1215G>T (p.Val405=)
 gnomAD v4
20g.63407064C=CA2374774399KCNQ2c.2253G= (p.Val751=)
c.2199G= (p.Val733=)
c.1596G= (p.Val532=)
c.2106G= (p.Val702=)
c.1767G= (p.Val589=)
c.2115G= (p.Val705=)
c.2223G= (p.Val741=)
c.2187G= (p.Val729=)
c.2145G= (p.Val715=)
c.1680-6221G= (n.1680-6221G=)
c.2241G= (p.Val747=)
c.2307G= (p.Val769=)
c.2304G= (p.Val768=)
c.2277G= (p.Val759=)
c.2196G= (p.Val732=)
c.2181G= (p.Val727=)
c.1788G= (p.Val596=)
c.2250G= (p.Val750=)
c.2184G= (p.Val728=)
c.2142G= (p.Val714=)
c.1215G= (p.Val405=)
20g.63407064C>GCA511339489KCNQ2c.2253G>C (p.Val751=)
c.2199G>C (p.Val733=)
c.1596G>C (p.Val532=)
c.2106G>C (p.Val702=)
c.1767G>C (p.Val589=)
c.2115G>C (p.Val705=)
c.2223G>C (p.Val741=)
c.2187G>C (p.Val729=)
c.2145G>C (p.Val715=)
c.1680-6221G>C (n.1680-6221G>C)
c.2241G>C (p.Val747=)
c.2307G>C (p.Val769=)
c.2304G>C (p.Val768=)
c.2277G>C (p.Val759=)
c.2196G>C (p.Val732=)
c.2181G>C (p.Val727=)
c.1788G>C (p.Val596=)
c.2250G>C (p.Val750=)
c.2184G>C (p.Val728=)
c.2142G>C (p.Val714=)
c.1215G>C (p.Val405=)
 gnomAD v4
20g.63407064C>TCA511339488KCNQ2c.2253G>A (p.Val751=)
c.2199G>A (p.Val733=)
c.1596G>A (p.Val532=)
c.2106G>A (p.Val702=)
c.1767G>A (p.Val589=)
c.2115G>A (p.Val705=)
c.2223G>A (p.Val741=)
c.2187G>A (p.Val729=)
c.2145G>A (p.Val715=)
c.1680-6221G>A (n.1680-6221G>A)
c.2241G>A (p.Val747=)
c.2307G>A (p.Val769=)
c.2304G>A (p.Val768=)
c.2277G>A (p.Val759=)
c.2196G>A (p.Val732=)
c.2181G>A (p.Val727=)
c.1788G>A (p.Val596=)
c.2250G>A (p.Val750=)
c.2184G>A (p.Val728=)
c.2142G>A (p.Val714=)
c.1215G>A (p.Val405=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407065A>CCA409638568KCNQ2c.2252T>G (p.Val751Gly)
c.2198T>G (p.Val733Gly)
c.1595T>G (p.Val532Gly)
c.2105T>G (p.Val702Gly)
c.1766T>G (p.Val589Gly)
c.2114T>G (p.Val705Gly)
c.2222T>G (p.Val741Gly)
c.2186T>G (p.Val729Gly)
c.2144T>G (p.Val715Gly)
c.1680-6222T>G (n.1680-6222T>G)
c.2240T>G (p.Val747Gly)
c.2306T>G (p.Val769Gly)
c.2303T>G (p.Val768Gly)
c.2276T>G (p.Val759Gly)
c.2195T>G (p.Val732Gly)
c.2180T>G (p.Val727Gly)
c.1787T>G (p.Val596Gly)
c.2249T>G (p.Val750Gly)
c.2183T>G (p.Val728Gly)
c.2141T>G (p.Val714Gly)
c.1214T>G (p.Val405Gly)
20g.63407065A>GCA409638571KCNQ2c.2252T>C (p.Val751Ala)
c.2198T>C (p.Val733Ala)
c.1595T>C (p.Val532Ala)
c.2105T>C (p.Val702Ala)
c.1766T>C (p.Val589Ala)
c.2114T>C (p.Val705Ala)
c.2222T>C (p.Val741Ala)
c.2186T>C (p.Val729Ala)
c.2144T>C (p.Val715Ala)
c.1680-6222T>C (n.1680-6222T>C)
c.2240T>C (p.Val747Ala)
c.2306T>C (p.Val769Ala)
c.2303T>C (p.Val768Ala)
c.2276T>C (p.Val759Ala)
c.2195T>C (p.Val732Ala)
c.2180T>C (p.Val727Ala)
c.1787T>C (p.Val596Ala)
c.2249T>C (p.Val750Ala)
c.2183T>C (p.Val728Ala)
c.2141T>C (p.Val714Ala)
c.1214T>C (p.Val405Ala)
 ClinVar gnomAD v4
20g.63407065A>TCA409638574KCNQ2c.2252T>A (p.Val751Glu)
c.2198T>A (p.Val733Glu)
c.1595T>A (p.Val532Glu)
c.2105T>A (p.Val702Glu)
c.1766T>A (p.Val589Glu)
c.2114T>A (p.Val705Glu)
c.2222T>A (p.Val741Glu)
c.2186T>A (p.Val729Glu)
c.2144T>A (p.Val715Glu)
c.1680-6222T>A (n.1680-6222T>A)
c.2240T>A (p.Val747Glu)
c.2306T>A (p.Val769Glu)
c.2303T>A (p.Val768Glu)
c.2276T>A (p.Val759Glu)
c.2195T>A (p.Val732Glu)
c.2180T>A (p.Val727Glu)
c.1787T>A (p.Val596Glu)
c.2249T>A (p.Val750Glu)
c.2183T>A (p.Val728Glu)
c.2141T>A (p.Val714Glu)
c.1214T>A (p.Val405Glu)
20g.63407066C>ACA409638576KCNQ2c.2251G>T (p.Val751Leu)
c.2197G>T (p.Val733Leu)
c.1594G>T (p.Val532Leu)
c.2104G>T (p.Val702Leu)
c.1765G>T (p.Val589Leu)
c.2113G>T (p.Val705Leu)
c.2221G>T (p.Val741Leu)
c.2185G>T (p.Val729Leu)
c.2143G>T (p.Val715Leu)
c.1680-6223G>T (n.1680-6223G>T)
c.2239G>T (p.Val747Leu)
c.2305G>T (p.Val769Leu)
c.2302G>T (p.Val768Leu)
c.2275G>T (p.Val759Leu)
c.2194G>T (p.Val732Leu)
c.2179G>T (p.Val727Leu)
c.1786G>T (p.Val596Leu)
c.2248G>T (p.Val750Leu)
c.2182G>T (p.Val728Leu)
c.2140G>T (p.Val714Leu)
c.1213G>T (p.Val405Leu)
 gnomAD v4
20g.63407066C=CA2374774400KCNQ2c.2251G= (p.Val751=)
c.2197G= (p.Val733=)
c.1594G= (p.Val532=)
c.2104G= (p.Val702=)
c.1765G= (p.Val589=)
c.2113G= (p.Val705=)
c.2221G= (p.Val741=)
c.2185G= (p.Val729=)
c.2143G= (p.Val715=)
c.1680-6223G= (n.1680-6223G=)
c.2239G= (p.Val747=)
c.2305G= (p.Val769=)
c.2302G= (p.Val768=)
c.2275G= (p.Val759=)
c.2194G= (p.Val732=)
c.2179G= (p.Val727=)
c.1786G= (p.Val596=)
c.2248G= (p.Val750=)
c.2182G= (p.Val728=)
c.2140G= (p.Val714=)
c.1213G= (p.Val405=)
20g.63407066C>GCA9958127KCNQ2c.2251G>C (p.Val751Leu)
c.2197G>C (p.Val733Leu)
c.1594G>C (p.Val532Leu)
c.2104G>C (p.Val702Leu)
c.1765G>C (p.Val589Leu)
c.2113G>C (p.Val705Leu)
c.2221G>C (p.Val741Leu)
c.2185G>C (p.Val729Leu)
c.2143G>C (p.Val715Leu)
c.1680-6223G>C (n.1680-6223G>C)
c.2239G>C (p.Val747Leu)
c.2305G>C (p.Val769Leu)
c.2302G>C (p.Val768Leu)
c.2275G>C (p.Val759Leu)
c.2194G>C (p.Val732Leu)
c.2179G>C (p.Val727Leu)
c.1786G>C (p.Val596Leu)
c.2248G>C (p.Val750Leu)
c.2182G>C (p.Val728Leu)
c.2140G>C (p.Val714Leu)
c.1213G>C (p.Val405Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407066C>TCA9958128KCNQ2c.2251G>A (p.Val751Met)
c.2197G>A (p.Val733Met)
c.1594G>A (p.Val532Met)
c.2104G>A (p.Val702Met)
c.1765G>A (p.Val589Met)
c.2113G>A (p.Val705Met)
c.2221G>A (p.Val741Met)
c.2185G>A (p.Val729Met)
c.2143G>A (p.Val715Met)
c.1680-6223G>A (n.1680-6223G>A)
c.2239G>A (p.Val747Met)
c.2305G>A (p.Val769Met)
c.2302G>A (p.Val768Met)
c.2275G>A (p.Val759Met)
c.2194G>A (p.Val732Met)
c.2179G>A (p.Val727Met)
c.1786G>A (p.Val596Met)
c.2248G>A (p.Val750Met)
c.2182G>A (p.Val728Met)
c.2140G>A (p.Val714Met)
c.1213G>A (p.Val405Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407067G>ACA317422130KCNQ2c.2250C>T (p.Pro750=)
c.2196C>T (p.Pro732=)
c.1593C>T (p.Pro531=)
c.2103C>T (p.Pro701=)
c.1764C>T (p.Pro588=)
c.2112C>T (p.Pro704=)
c.2220C>T (p.Pro740=)
c.2184C>T (p.Pro728=)
c.2142C>T (p.Pro714=)
c.1680-6224C>T (n.1680-6224C>T)
c.2238C>T (p.Pro746=)
c.2304C>T (p.Pro768=)
c.2301C>T (p.Pro767=)
c.2274C>T (p.Pro758=)
c.2193C>T (p.Pro731=)
c.2178C>T (p.Pro726=)
c.1785C>T (p.Pro595=)
c.2247C>T (p.Pro749=)
c.2181C>T (p.Pro727=)
c.2139C>T (p.Pro713=)
c.1212C>T (p.Pro404=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407067G>CCA511339490KCNQ2c.2250C>G (p.Pro750=)
c.2196C>G (p.Pro732=)
c.1593C>G (p.Pro531=)
c.2103C>G (p.Pro701=)
c.1764C>G (p.Pro588=)
c.2112C>G (p.Pro704=)
c.2220C>G (p.Pro740=)
c.2184C>G (p.Pro728=)
c.2142C>G (p.Pro714=)
c.1680-6224C>G (n.1680-6224C>G)
c.2238C>G (p.Pro746=)
c.2304C>G (p.Pro768=)
c.2301C>G (p.Pro767=)
c.2274C>G (p.Pro758=)
c.2193C>G (p.Pro731=)
c.2178C>G (p.Pro726=)
c.1785C>G (p.Pro595=)
c.2247C>G (p.Pro749=)
c.2181C>G (p.Pro727=)
c.2139C>G (p.Pro713=)
c.1212C>G (p.Pro404=)
20g.63407067G=CA2374774401KCNQ2c.2250C= (p.Pro750=)
c.2196C= (p.Pro732=)
c.1593C= (p.Pro531=)
c.2103C= (p.Pro701=)
c.1764C= (p.Pro588=)
c.2112C= (p.Pro704=)
c.2220C= (p.Pro740=)
c.2184C= (p.Pro728=)
c.2142C= (p.Pro714=)
c.1680-6224C= (n.1680-6224C=)
c.2238C= (p.Pro746=)
c.2304C= (p.Pro768=)
c.2301C= (p.Pro767=)
c.2274C= (p.Pro758=)
c.2193C= (p.Pro731=)
c.2178C= (p.Pro726=)
c.1785C= (p.Pro595=)
c.2247C= (p.Pro749=)
c.2181C= (p.Pro727=)
c.2139C= (p.Pro713=)
c.1212C= (p.Pro404=)
20g.63407067G>TCA511339491KCNQ2c.2250C>A (p.Pro750=)
c.2196C>A (p.Pro732=)
c.1593C>A (p.Pro531=)
c.2103C>A (p.Pro701=)
c.1764C>A (p.Pro588=)
c.2112C>A (p.Pro704=)
c.2220C>A (p.Pro740=)
c.2184C>A (p.Pro728=)
c.2142C>A (p.Pro714=)
c.1680-6224C>A (n.1680-6224C>A)
c.2238C>A (p.Pro746=)
c.2304C>A (p.Pro768=)
c.2301C>A (p.Pro767=)
c.2274C>A (p.Pro758=)
c.2193C>A (p.Pro731=)
c.2178C>A (p.Pro726=)
c.1785C>A (p.Pro595=)
c.2247C>A (p.Pro749=)
c.2181C>A (p.Pro727=)
c.2139C>A (p.Pro713=)
c.1212C>A (p.Pro404=)
 gnomAD v4
20g.63407071delCA2653805416KCNQ2c.2250del (p.Val751TrpfsTer?)
c.2196del (p.Val733TrpfsTer?)
c.1593del (p.Val532TrpfsTer?)
c.2103del (p.Val702TrpfsTer?)
c.1764del (p.Val589TrpfsTer?)
c.2112del (p.Val705TrpfsTer?)
c.2220del (p.Val741TrpfsTer?)
c.2184del (p.Val729TrpfsTer?)
c.2142del (p.Val715TrpfsTer?)
c.1680-6224del (n.1680-6224del)
c.2238del (p.Val747TrpfsTer?)
c.2304del (p.Val769TrpfsTer?)
c.2301del (p.Val768TrpfsTer?)
c.2274del (p.Val759TrpfsTer?)
c.2193del (p.Val732TrpfsTer?)
c.2178del (p.Val727TrpfsTer?)
c.1785del (p.Val596TrpfsTer?)
c.2247del (p.Val750TrpfsTer?)
c.2181del (p.Val728TrpfsTer?)
c.2139del (p.Val714TrpfsTer?)
c.1212del (p.Val405TrpfsTer?)
 ClinVar gnomAD v4
20g.63407068G>ACA409638583KCNQ2c.2249C>T (p.Pro750Leu)
c.2195C>T (p.Pro732Leu)
c.1592C>T (p.Pro531Leu)
c.2102C>T (p.Pro701Leu)
c.1763C>T (p.Pro588Leu)
c.2111C>T (p.Pro704Leu)
c.2219C>T (p.Pro740Leu)
c.2183C>T (p.Pro728Leu)
c.2141C>T (p.Pro714Leu)
c.1680-6225C>T (n.1680-6225C>T)
c.2237C>T (p.Pro746Leu)
c.2303C>T (p.Pro768Leu)
c.2300C>T (p.Pro767Leu)
c.2273C>T (p.Pro758Leu)
c.2192C>T (p.Pro731Leu)
c.2177C>T (p.Pro726Leu)
c.1784C>T (p.Pro595Leu)
c.2246C>T (p.Pro749Leu)
c.2180C>T (p.Pro727Leu)
c.2138C>T (p.Pro713Leu)
c.1211C>T (p.Pro404Leu)
 gnomAD v4
20g.63407068G>CCA409638586KCNQ2c.2249C>G (p.Pro750Arg)
c.2195C>G (p.Pro732Arg)
c.1592C>G (p.Pro531Arg)
c.2102C>G (p.Pro701Arg)
c.1763C>G (p.Pro588Arg)
c.2111C>G (p.Pro704Arg)
c.2219C>G (p.Pro740Arg)
c.2183C>G (p.Pro728Arg)
c.2141C>G (p.Pro714Arg)
c.1680-6225C>G (n.1680-6225C>G)
c.2237C>G (p.Pro746Arg)
c.2303C>G (p.Pro768Arg)
c.2300C>G (p.Pro767Arg)
c.2273C>G (p.Pro758Arg)
c.2192C>G (p.Pro731Arg)
c.2177C>G (p.Pro726Arg)
c.1784C>G (p.Pro595Arg)
c.2246C>G (p.Pro749Arg)
c.2180C>G (p.Pro727Arg)
c.2138C>G (p.Pro713Arg)
c.1211C>G (p.Pro404Arg)
20g.63407068G>TCA409638590KCNQ2c.2249C>A (p.Pro750His)
c.2195C>A (p.Pro732His)
c.1592C>A (p.Pro531His)
c.2102C>A (p.Pro701His)
c.1763C>A (p.Pro588His)
c.2111C>A (p.Pro704His)
c.2219C>A (p.Pro740His)
c.2183C>A (p.Pro728His)
c.2141C>A (p.Pro714His)
c.1680-6225C>A (n.1680-6225C>A)
c.2237C>A (p.Pro746His)
c.2303C>A (p.Pro768His)
c.2300C>A (p.Pro767His)
c.2273C>A (p.Pro758His)
c.2192C>A (p.Pro731His)
c.2177C>A (p.Pro726His)
c.1784C>A (p.Pro595His)
c.2246C>A (p.Pro749His)
c.2180C>A (p.Pro727His)
c.2138C>A (p.Pro713His)
c.1211C>A (p.Pro404His)
 gnomAD v4
20g.63407069G>ACA9958129KCNQ2c.2248C>T (p.Pro750Ser)
c.2194C>T (p.Pro732Ser)
c.1591C>T (p.Pro531Ser)
c.2101C>T (p.Pro701Ser)
c.1762C>T (p.Pro588Ser)
c.2110C>T (p.Pro704Ser)
c.2218C>T (p.Pro740Ser)
c.2182C>T (p.Pro728Ser)
c.2140C>T (p.Pro714Ser)
c.1680-6226C>T (n.1680-6226C>T)
c.2236C>T (p.Pro746Ser)
c.2302C>T (p.Pro768Ser)
c.2299C>T (p.Pro767Ser)
c.2272C>T (p.Pro758Ser)
c.2191C>T (p.Pro731Ser)
c.2176C>T (p.Pro726Ser)
c.1783C>T (p.Pro595Ser)
c.2245C>T (p.Pro749Ser)
c.2179C>T (p.Pro727Ser)
c.2137C>T (p.Pro713Ser)
c.1210C>T (p.Pro404Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407069G>CCA409638596KCNQ2c.2248C>G (p.Pro750Ala)
c.2194C>G (p.Pro732Ala)
c.1591C>G (p.Pro531Ala)
c.2101C>G (p.Pro701Ala)
c.1762C>G (p.Pro588Ala)
c.2110C>G (p.Pro704Ala)
c.2218C>G (p.Pro740Ala)
c.2182C>G (p.Pro728Ala)
c.2140C>G (p.Pro714Ala)
c.1680-6226C>G (n.1680-6226C>G)
c.2236C>G (p.Pro746Ala)
c.2302C>G (p.Pro768Ala)
c.2299C>G (p.Pro767Ala)
c.2272C>G (p.Pro758Ala)
c.2191C>G (p.Pro731Ala)
c.2176C>G (p.Pro726Ala)
c.1783C>G (p.Pro595Ala)
c.2245C>G (p.Pro749Ala)
c.2179C>G (p.Pro727Ala)
c.2137C>G (p.Pro713Ala)
c.1210C>G (p.Pro404Ala)
 gnomAD v4
20g.63407069G=CA2374774402KCNQ2c.2248C= (p.Pro750=)
c.2194C= (p.Pro732=)
c.1591C= (p.Pro531=)
c.2101C= (p.Pro701=)
c.1762C= (p.Pro588=)
c.2110C= (p.Pro704=)
c.2218C= (p.Pro740=)
c.2182C= (p.Pro728=)
c.2140C= (p.Pro714=)
c.1680-6226C= (n.1680-6226C=)
c.2236C= (p.Pro746=)
c.2302C= (p.Pro768=)
c.2299C= (p.Pro767=)
c.2272C= (p.Pro758=)
c.2191C= (p.Pro731=)
c.2176C= (p.Pro726=)
c.1783C= (p.Pro595=)
c.2245C= (p.Pro749=)
c.2179C= (p.Pro727=)
c.2137C= (p.Pro713=)
c.1210C= (p.Pro404=)
20g.63407069G>TCA9958130KCNQ2c.2248C>A (p.Pro750Thr)
c.2194C>A (p.Pro732Thr)
c.1591C>A (p.Pro531Thr)
c.2101C>A (p.Pro701Thr)
c.1762C>A (p.Pro588Thr)
c.2110C>A (p.Pro704Thr)
c.2218C>A (p.Pro740Thr)
c.2182C>A (p.Pro728Thr)
c.2140C>A (p.Pro714Thr)
c.1680-6226C>A (n.1680-6226C>A)
c.2236C>A (p.Pro746Thr)
c.2302C>A (p.Pro768Thr)
c.2299C>A (p.Pro767Thr)
c.2272C>A (p.Pro758Thr)
c.2191C>A (p.Pro731Thr)
c.2176C>A (p.Pro726Thr)
c.1783C>A (p.Pro595Thr)
c.2245C>A (p.Pro749Thr)
c.2179C>A (p.Pro727Thr)
c.2137C>A (p.Pro713Thr)
c.1210C>A (p.Pro404Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407070G>ACA511339492KCNQ2c.2247C>T (p.Ser749=)
c.2193C>T (p.Ser731=)
c.1590C>T (p.Ser530=)
c.2100C>T (p.Ser700=)
c.1761C>T (p.Ser587=)
c.2109C>T (p.Ser703=)
c.2217C>T (p.Ser739=)
c.2181C>T (p.Ser727=)
c.2139C>T (p.Ser713=)
c.1680-6227C>T (n.1680-6227C>T)
c.2235C>T (p.Ser745=)
c.2301C>T (p.Ser767=)
c.2298C>T (p.Ser766=)
c.2271C>T (p.Ser757=)
c.2190C>T (p.Ser730=)
c.2175C>T (p.Ser725=)
c.1782C>T (p.Ser594=)
c.2244C>T (p.Ser748=)
c.2178C>T (p.Ser726=)
c.2136C>T (p.Ser712=)
c.1209C>T (p.Ser403=)
 dbSNP gnomAD v2 gnomAD v4
20g.63407070G>CCA511339493KCNQ2c.2247C>G (p.Ser749=)
c.2193C>G (p.Ser731=)
c.1590C>G (p.Ser530=)
c.2100C>G (p.Ser700=)
c.1761C>G (p.Ser587=)
c.2109C>G (p.Ser703=)
c.2217C>G (p.Ser739=)
c.2181C>G (p.Ser727=)
c.2139C>G (p.Ser713=)
c.1680-6227C>G (n.1680-6227C>G)
c.2235C>G (p.Ser745=)
c.2301C>G (p.Ser767=)
c.2298C>G (p.Ser766=)
c.2271C>G (p.Ser757=)
c.2190C>G (p.Ser730=)
c.2175C>G (p.Ser725=)
c.1782C>G (p.Ser594=)
c.2244C>G (p.Ser748=)
c.2178C>G (p.Ser726=)
c.2136C>G (p.Ser712=)
c.1209C>G (p.Ser403=)
20g.63407070G=CA2374774403KCNQ2c.2247C= (p.Ser749=)
c.2193C= (p.Ser731=)
c.1590C= (p.Ser530=)
c.2100C= (p.Ser700=)
c.1761C= (p.Ser587=)
c.2109C= (p.Ser703=)
c.2217C= (p.Ser739=)
c.2181C= (p.Ser727=)
c.2139C= (p.Ser713=)
c.1680-6227C= (n.1680-6227C=)
c.2235C= (p.Ser745=)
c.2301C= (p.Ser767=)
c.2298C= (p.Ser766=)
c.2271C= (p.Ser757=)
c.2190C= (p.Ser730=)
c.2175C= (p.Ser725=)
c.1782C= (p.Ser594=)
c.2244C= (p.Ser748=)
c.2178C= (p.Ser726=)
c.2136C= (p.Ser712=)
c.1209C= (p.Ser403=)
20g.63407070G>TCA511339494KCNQ2c.2247C>A (p.Ser749=)
c.2193C>A (p.Ser731=)
c.1590C>A (p.Ser530=)
c.2100C>A (p.Ser700=)
c.1761C>A (p.Ser587=)
c.2109C>A (p.Ser703=)
c.2217C>A (p.Ser739=)
c.2181C>A (p.Ser727=)
c.2139C>A (p.Ser713=)
c.1680-6227C>A (n.1680-6227C>A)
c.2235C>A (p.Ser745=)
c.2301C>A (p.Ser767=)
c.2298C>A (p.Ser766=)
c.2271C>A (p.Ser757=)
c.2190C>A (p.Ser730=)
c.2175C>A (p.Ser725=)
c.1782C>A (p.Ser594=)
c.2244C>A (p.Ser748=)
c.2178C>A (p.Ser726=)
c.2136C>A (p.Ser712=)
c.1209C>A (p.Ser403=)
 gnomAD v4
20g.63407071G>ACA409638608KCNQ2c.2246C>T (p.Ser749Phe)
c.2192C>T (p.Ser731Phe)
c.1589C>T (p.Ser530Phe)
c.2099C>T (p.Ser700Phe)
c.1760C>T (p.Ser587Phe)
c.2108C>T (p.Ser703Phe)
c.2216C>T (p.Ser739Phe)
c.2180C>T (p.Ser727Phe)
c.2138C>T (p.Ser713Phe)
c.1680-6228C>T (n.1680-6228C>T)
c.2234C>T (p.Ser745Phe)
c.2300C>T (p.Ser767Phe)
c.2297C>T (p.Ser766Phe)
c.2270C>T (p.Ser757Phe)
c.2189C>T (p.Ser730Phe)
c.2174C>T (p.Ser725Phe)
c.1781C>T (p.Ser594Phe)
c.2243C>T (p.Ser748Phe)
c.2177C>T (p.Ser726Phe)
c.2135C>T (p.Ser712Phe)
c.1208C>T (p.Ser403Phe)
20g.63407071G>CCA409638602KCNQ2c.2246C>G (p.Ser749Cys)
c.2192C>G (p.Ser731Cys)
c.1589C>G (p.Ser530Cys)
c.2099C>G (p.Ser700Cys)
c.1760C>G (p.Ser587Cys)
c.2108C>G (p.Ser703Cys)
c.2216C>G (p.Ser739Cys)
c.2180C>G (p.Ser727Cys)
c.2138C>G (p.Ser713Cys)
c.1680-6228C>G (n.1680-6228C>G)
c.2234C>G (p.Ser745Cys)
c.2300C>G (p.Ser767Cys)
c.2297C>G (p.Ser766Cys)
c.2270C>G (p.Ser757Cys)
c.2189C>G (p.Ser730Cys)
c.2174C>G (p.Ser725Cys)
c.1781C>G (p.Ser594Cys)
c.2243C>G (p.Ser748Cys)
c.2177C>G (p.Ser726Cys)
c.2135C>G (p.Ser712Cys)
c.1208C>G (p.Ser403Cys)
20g.63407071G>TCA409638605KCNQ2c.2246C>A (p.Ser749Tyr)
c.2192C>A (p.Ser731Tyr)
c.1589C>A (p.Ser530Tyr)
c.2099C>A (p.Ser700Tyr)
c.1760C>A (p.Ser587Tyr)
c.2108C>A (p.Ser703Tyr)
c.2216C>A (p.Ser739Tyr)
c.2180C>A (p.Ser727Tyr)
c.2138C>A (p.Ser713Tyr)
c.1680-6228C>A (n.1680-6228C>A)
c.2234C>A (p.Ser745Tyr)
c.2300C>A (p.Ser767Tyr)
c.2297C>A (p.Ser766Tyr)
c.2270C>A (p.Ser757Tyr)
c.2189C>A (p.Ser730Tyr)
c.2174C>A (p.Ser725Tyr)
c.1781C>A (p.Ser594Tyr)
c.2243C>A (p.Ser748Tyr)
c.2177C>A (p.Ser726Tyr)
c.2135C>A (p.Ser712Tyr)
c.1208C>A (p.Ser403Tyr)
 gnomAD v4
20g.63407072A=CA2374774404KCNQ2c.2245T= (p.Ser749=)
c.2191T= (p.Ser731=)
c.1588T= (p.Ser530=)
c.2098T= (p.Ser700=)
c.1759T= (p.Ser587=)
c.2107T= (p.Ser703=)
c.2215T= (p.Ser739=)
c.2179T= (p.Ser727=)
c.2137T= (p.Ser713=)
c.1680-6229T= (n.1680-6229T=)
c.2233T= (p.Ser745=)
c.2299T= (p.Ser767=)
c.2296T= (p.Ser766=)
c.2269T= (p.Ser757=)
c.2188T= (p.Ser730=)
c.2173T= (p.Ser725=)
c.1780T= (p.Ser594=)
c.2242T= (p.Ser748=)
c.2176T= (p.Ser726=)
c.2134T= (p.Ser712=)
c.1207T= (p.Ser403=)
20g.63407072A>CCA409638612KCNQ2c.2245T>G (p.Ser749Ala)
c.2191T>G (p.Ser731Ala)
c.1588T>G (p.Ser530Ala)
c.2098T>G (p.Ser700Ala)
c.1759T>G (p.Ser587Ala)
c.2107T>G (p.Ser703Ala)
c.2215T>G (p.Ser739Ala)
c.2179T>G (p.Ser727Ala)
c.2137T>G (p.Ser713Ala)
c.1680-6229T>G (n.1680-6229T>G)
c.2233T>G (p.Ser745Ala)
c.2299T>G (p.Ser767Ala)
c.2296T>G (p.Ser766Ala)
c.2269T>G (p.Ser757Ala)
c.2188T>G (p.Ser730Ala)
c.2173T>G (p.Ser725Ala)
c.1780T>G (p.Ser594Ala)
c.2242T>G (p.Ser748Ala)
c.2176T>G (p.Ser726Ala)
c.2134T>G (p.Ser712Ala)
c.1207T>G (p.Ser403Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.63407072A>GCA409638614KCNQ2c.2245T>C (p.Ser749Pro)
c.2191T>C (p.Ser731Pro)
c.1588T>C (p.Ser530Pro)
c.2098T>C (p.Ser700Pro)
c.1759T>C (p.Ser587Pro)
c.2107T>C (p.Ser703Pro)
c.2215T>C (p.Ser739Pro)
c.2179T>C (p.Ser727Pro)
c.2137T>C (p.Ser713Pro)
c.1680-6229T>C (n.1680-6229T>C)
c.2233T>C (p.Ser745Pro)
c.2299T>C (p.Ser767Pro)
c.2296T>C (p.Ser766Pro)
c.2269T>C (p.Ser757Pro)
c.2188T>C (p.Ser730Pro)
c.2173T>C (p.Ser725Pro)
c.1780T>C (p.Ser594Pro)
c.2242T>C (p.Ser748Pro)
c.2176T>C (p.Ser726Pro)
c.2134T>C (p.Ser712Pro)
c.1207T>C (p.Ser403Pro)
 gnomAD v4
20g.63407072A>TCA409638616KCNQ2c.2245T>A (p.Ser749Thr)
c.2191T>A (p.Ser731Thr)
c.1588T>A (p.Ser530Thr)
c.2098T>A (p.Ser700Thr)
c.1759T>A (p.Ser587Thr)
c.2107T>A (p.Ser703Thr)
c.2215T>A (p.Ser739Thr)
c.2179T>A (p.Ser727Thr)
c.2137T>A (p.Ser713Thr)
c.1680-6229T>A (n.1680-6229T>A)
c.2233T>A (p.Ser745Thr)
c.2299T>A (p.Ser767Thr)
c.2296T>A (p.Ser766Thr)
c.2269T>A (p.Ser757Thr)
c.2188T>A (p.Ser730Thr)
c.2173T>A (p.Ser725Thr)
c.1780T>A (p.Ser594Thr)
c.2242T>A (p.Ser748Thr)
c.2176T>A (p.Ser726Thr)
c.2134T>A (p.Ser712Thr)
c.1207T>A (p.Ser403Thr)
 gnomAD v4
20g.63407073G>ACA9958131KCNQ2c.2244C>T (p.Thr748=)
c.2190C>T (p.Thr730=)
c.1587C>T (p.Thr529=)
c.2097C>T (p.Thr699=)
c.1758C>T (p.Thr586=)
c.2106C>T (p.Thr702=)
c.2214C>T (p.Thr738=)
c.2178C>T (p.Thr726=)
c.2136C>T (p.Thr712=)
c.1680-6230C>T (n.1680-6230C>T)
c.2232C>T (p.Thr744=)
c.2298C>T (p.Thr766=)
c.2295C>T (p.Thr765=)
c.2268C>T (p.Thr756=)
c.2187C>T (p.Thr729=)
c.2172C>T (p.Thr724=)
c.1779C>T (p.Thr593=)
c.2241C>T (p.Thr747=)
c.2175C>T (p.Thr725=)
c.2133C>T (p.Thr711=)
c.1206C>T (p.Thr402=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407073G>CCA511339495KCNQ2c.2244C>G (p.Thr748=)
c.2190C>G (p.Thr730=)
c.1587C>G (p.Thr529=)
c.2097C>G (p.Thr699=)
c.1758C>G (p.Thr586=)
c.2106C>G (p.Thr702=)
c.2214C>G (p.Thr738=)
c.2178C>G (p.Thr726=)
c.2136C>G (p.Thr712=)
c.1680-6230C>G (n.1680-6230C>G)
c.2232C>G (p.Thr744=)
c.2298C>G (p.Thr766=)
c.2295C>G (p.Thr765=)
c.2268C>G (p.Thr756=)
c.2187C>G (p.Thr729=)
c.2172C>G (p.Thr724=)
c.1779C>G (p.Thr593=)
c.2241C>G (p.Thr747=)
c.2175C>G (p.Thr725=)
c.2133C>G (p.Thr711=)
c.1206C>G (p.Thr402=)
20g.63407073G=CA2374774405KCNQ2c.2244C= (p.Thr748=)
c.2190C= (p.Thr730=)
c.1587C= (p.Thr529=)
c.2097C= (p.Thr699=)
c.1758C= (p.Thr586=)
c.2106C= (p.Thr702=)
c.2214C= (p.Thr738=)
c.2178C= (p.Thr726=)
c.2136C= (p.Thr712=)
c.1680-6230C= (n.1680-6230C=)
c.2232C= (p.Thr744=)
c.2298C= (p.Thr766=)
c.2295C= (p.Thr765=)
c.2268C= (p.Thr756=)
c.2187C= (p.Thr729=)
c.2172C= (p.Thr724=)
c.1779C= (p.Thr593=)
c.2241C= (p.Thr747=)
c.2175C= (p.Thr725=)
c.2133C= (p.Thr711=)
c.1206C= (p.Thr402=)
20g.63407073G>TCA511339496KCNQ2c.2244C>A (p.Thr748=)
c.2190C>A (p.Thr730=)
c.1587C>A (p.Thr529=)
c.2097C>A (p.Thr699=)
c.1758C>A (p.Thr586=)
c.2106C>A (p.Thr702=)
c.2214C>A (p.Thr738=)
c.2178C>A (p.Thr726=)
c.2136C>A (p.Thr712=)
c.1680-6230C>A (n.1680-6230C>A)
c.2232C>A (p.Thr744=)
c.2298C>A (p.Thr766=)
c.2295C>A (p.Thr765=)
c.2268C>A (p.Thr756=)
c.2187C>A (p.Thr729=)
c.2172C>A (p.Thr724=)
c.1779C>A (p.Thr593=)
c.2241C>A (p.Thr747=)
c.2175C>A (p.Thr725=)
c.2133C>A (p.Thr711=)
c.1206C>A (p.Thr402=)
 gnomAD v4
20g.63407074G>ACA409638623KCNQ2c.2243C>T (p.Thr748Ile)
c.2189C>T (p.Thr730Ile)
c.1586C>T (p.Thr529Ile)
c.2096C>T (p.Thr699Ile)
c.1757C>T (p.Thr586Ile)
c.2105C>T (p.Thr702Ile)
c.2213C>T (p.Thr738Ile)
c.2177C>T (p.Thr726Ile)
c.2135C>T (p.Thr712Ile)
c.1680-6231C>T (n.1680-6231C>T)
c.2231C>T (p.Thr744Ile)
c.2297C>T (p.Thr766Ile)
c.2294C>T (p.Thr765Ile)
c.2267C>T (p.Thr756Ile)
c.2186C>T (p.Thr729Ile)
c.2171C>T (p.Thr724Ile)
c.1778C>T (p.Thr593Ile)
c.2240C>T (p.Thr747Ile)
c.2174C>T (p.Thr725Ile)
c.2132C>T (p.Thr711Ile)
c.1205C>T (p.Thr402Ile)
 gnomAD v4
20g.63407074G>CCA409638626KCNQ2c.2243C>G (p.Thr748Ser)
c.2189C>G (p.Thr730Ser)
c.1586C>G (p.Thr529Ser)
c.2096C>G (p.Thr699Ser)
c.1757C>G (p.Thr586Ser)
c.2105C>G (p.Thr702Ser)
c.2213C>G (p.Thr738Ser)
c.2177C>G (p.Thr726Ser)
c.2135C>G (p.Thr712Ser)
c.1680-6231C>G (n.1680-6231C>G)
c.2231C>G (p.Thr744Ser)
c.2297C>G (p.Thr766Ser)
c.2294C>G (p.Thr765Ser)
c.2267C>G (p.Thr756Ser)
c.2186C>G (p.Thr729Ser)
c.2171C>G (p.Thr724Ser)
c.1778C>G (p.Thr593Ser)
c.2240C>G (p.Thr747Ser)
c.2174C>G (p.Thr725Ser)
c.2132C>G (p.Thr711Ser)
c.1205C>G (p.Thr402Ser)
20g.63407074G>TCA409638630KCNQ2c.2243C>A (p.Thr748Asn)
c.2189C>A (p.Thr730Asn)
c.1586C>A (p.Thr529Asn)
c.2096C>A (p.Thr699Asn)
c.1757C>A (p.Thr586Asn)
c.2105C>A (p.Thr702Asn)
c.2213C>A (p.Thr738Asn)
c.2177C>A (p.Thr726Asn)
c.2135C>A (p.Thr712Asn)
c.1680-6231C>A (n.1680-6231C>A)
c.2231C>A (p.Thr744Asn)
c.2297C>A (p.Thr766Asn)
c.2294C>A (p.Thr765Asn)
c.2267C>A (p.Thr756Asn)
c.2186C>A (p.Thr729Asn)
c.2171C>A (p.Thr724Asn)
c.1778C>A (p.Thr593Asn)
c.2240C>A (p.Thr747Asn)
c.2174C>A (p.Thr725Asn)
c.2132C>A (p.Thr711Asn)
c.1205C>A (p.Thr402Asn)
 gnomAD v4
20g.63407075T>ACA409638633KCNQ2c.2242A>T (p.Thr748Ser)
c.2188A>T (p.Thr730Ser)
c.1585A>T (p.Thr529Ser)
c.2095A>T (p.Thr699Ser)
c.1756A>T (p.Thr586Ser)
c.2104A>T (p.Thr702Ser)
c.2212A>T (p.Thr738Ser)
c.2176A>T (p.Thr726Ser)
c.2134A>T (p.Thr712Ser)
c.1680-6232A>T (n.1680-6232A>T)
c.2230A>T (p.Thr744Ser)
c.2296A>T (p.Thr766Ser)
c.2293A>T (p.Thr765Ser)
c.2266A>T (p.Thr756Ser)
c.2185A>T (p.Thr729Ser)
c.2170A>T (p.Thr724Ser)
c.1777A>T (p.Thr593Ser)
c.2239A>T (p.Thr747Ser)
c.2173A>T (p.Thr725Ser)
c.2131A>T (p.Thr711Ser)
c.1204A>T (p.Thr402Ser)
20g.63407075T>CCA409638636KCNQ2c.2242A>G (p.Thr748Ala)
c.2188A>G (p.Thr730Ala)
c.1585A>G (p.Thr529Ala)
c.2095A>G (p.Thr699Ala)
c.1756A>G (p.Thr586Ala)
c.2104A>G (p.Thr702Ala)
c.2212A>G (p.Thr738Ala)
c.2176A>G (p.Thr726Ala)
c.2134A>G (p.Thr712Ala)
c.1680-6232A>G (n.1680-6232A>G)
c.2230A>G (p.Thr744Ala)
c.2296A>G (p.Thr766Ala)
c.2293A>G (p.Thr765Ala)
c.2266A>G (p.Thr756Ala)
c.2185A>G (p.Thr729Ala)
c.2170A>G (p.Thr724Ala)
c.1777A>G (p.Thr593Ala)
c.2239A>G (p.Thr747Ala)
c.2173A>G (p.Thr725Ala)
c.2131A>G (p.Thr711Ala)
c.1204A>G (p.Thr402Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63407075T>GCA409638639KCNQ2c.2242A>C (p.Thr748Pro)
c.2188A>C (p.Thr730Pro)
c.1585A>C (p.Thr529Pro)
c.2095A>C (p.Thr699Pro)
c.1756A>C (p.Thr586Pro)
c.2104A>C (p.Thr702Pro)
c.2212A>C (p.Thr738Pro)
c.2176A>C (p.Thr726Pro)
c.2134A>C (p.Thr712Pro)
c.1680-6232A>C (n.1680-6232A>C)
c.2230A>C (p.Thr744Pro)
c.2296A>C (p.Thr766Pro)
c.2293A>C (p.Thr765Pro)
c.2266A>C (p.Thr756Pro)
c.2185A>C (p.Thr729Pro)
c.2170A>C (p.Thr724Pro)
c.1777A>C (p.Thr593Pro)
c.2239A>C (p.Thr747Pro)
c.2173A>C (p.Thr725Pro)
c.2131A>C (p.Thr711Pro)
c.1204A>C (p.Thr402Pro)
20g.63407075T=CA2374774406KCNQ2c.2242A= (p.Thr748=)
c.2188A= (p.Thr730=)
c.1585A= (p.Thr529=)
c.2095A= (p.Thr699=)
c.1756A= (p.Thr586=)
c.2104A= (p.Thr702=)
c.2212A= (p.Thr738=)
c.2176A= (p.Thr726=)
c.2134A= (p.Thr712=)
c.1680-6232A= (n.1680-6232A=)
c.2230A= (p.Thr744=)
c.2296A= (p.Thr766=)
c.2293A= (p.Thr765=)
c.2266A= (p.Thr756=)
c.2185A= (p.Thr729=)
c.2170A= (p.Thr724=)
c.1777A= (p.Thr593=)
c.2239A= (p.Thr747=)
c.2173A= (p.Thr725=)
c.2131A= (p.Thr711=)
c.1204A= (p.Thr402=)
20g.63407076G>ACA511339497KCNQ2c.2241C>T (p.Gly747=)
c.2187C>T (p.Gly729=)
c.1584C>T (p.Gly528=)
c.2094C>T (p.Gly698=)
c.1755C>T (p.Gly585=)
c.2103C>T (p.Gly701=)
c.2211C>T (p.Gly737=)
c.2175C>T (p.Gly725=)
c.2133C>T (p.Gly711=)
c.1680-6233C>T (n.1680-6233C>T)
c.2229C>T (p.Gly743=)
c.2295C>T (p.Gly765=)
c.2292C>T (p.Gly764=)
c.2265C>T (p.Gly755=)
c.2184C>T (p.Gly728=)
c.2169C>T (p.Gly723=)
c.1776C>T (p.Gly592=)
c.2238C>T (p.Gly746=)
c.2172C>T (p.Gly724=)
c.2130C>T (p.Gly710=)
c.1203C>T (p.Gly401=)
 gnomAD v4
20g.63407076G>CCA511339499KCNQ2c.2241C>G (p.Gly747=)
c.2187C>G (p.Gly729=)
c.1584C>G (p.Gly528=)
c.2094C>G (p.Gly698=)
c.1755C>G (p.Gly585=)
c.2103C>G (p.Gly701=)
c.2211C>G (p.Gly737=)
c.2175C>G (p.Gly725=)
c.2133C>G (p.Gly711=)
c.1680-6233C>G (n.1680-6233C>G)
c.2229C>G (p.Gly743=)
c.2295C>G (p.Gly765=)
c.2292C>G (p.Gly764=)
c.2265C>G (p.Gly755=)
c.2184C>G (p.Gly728=)
c.2169C>G (p.Gly723=)
c.1776C>G (p.Gly592=)
c.2238C>G (p.Gly746=)
c.2172C>G (p.Gly724=)
c.2130C>G (p.Gly710=)
c.1203C>G (p.Gly401=)
20g.63407076G>TCA511339498KCNQ2c.2241C>A (p.Gly747=)
c.2187C>A (p.Gly729=)
c.1584C>A (p.Gly528=)
c.2094C>A (p.Gly698=)
c.1755C>A (p.Gly585=)
c.2103C>A (p.Gly701=)
c.2211C>A (p.Gly737=)
c.2175C>A (p.Gly725=)
c.2133C>A (p.Gly711=)
c.1680-6233C>A (n.1680-6233C>A)
c.2229C>A (p.Gly743=)
c.2295C>A (p.Gly765=)
c.2292C>A (p.Gly764=)
c.2265C>A (p.Gly755=)
c.2184C>A (p.Gly728=)
c.2169C>A (p.Gly723=)
c.1776C>A (p.Gly592=)
c.2238C>A (p.Gly746=)
c.2172C>A (p.Gly724=)
c.2130C>A (p.Gly710=)
c.1203C>A (p.Gly401=)
 gnomAD v4
20g.63407077C>ACA409638642KCNQ2c.2240G>T (p.Gly747Val)
c.2186G>T (p.Gly729Val)
c.1583G>T (p.Gly528Val)
c.2093G>T (p.Gly698Val)
c.1754G>T (p.Gly585Val)
c.2102G>T (p.Gly701Val)
c.2210G>T (p.Gly737Val)
c.2174G>T (p.Gly725Val)
c.2132G>T (p.Gly711Val)
c.1680-6234G>T (n.1680-6234G>T)
c.2228G>T (p.Gly743Val)
c.2294G>T (p.Gly765Val)
c.2291G>T (p.Gly764Val)
c.2264G>T (p.Gly755Val)
c.2183G>T (p.Gly728Val)
c.2168G>T (p.Gly723Val)
c.1775G>T (p.Gly592Val)
c.2237G>T (p.Gly746Val)
c.2171G>T (p.Gly724Val)
c.2129G>T (p.Gly710Val)
c.1202G>T (p.Gly401Val)
 gnomAD v4
20g.63407077C>GCA409638644KCNQ2c.2240G>C (p.Gly747Ala)
c.2186G>C (p.Gly729Ala)
c.1583G>C (p.Gly528Ala)
c.2093G>C (p.Gly698Ala)
c.1754G>C (p.Gly585Ala)
c.2102G>C (p.Gly701Ala)
c.2210G>C (p.Gly737Ala)
c.2174G>C (p.Gly725Ala)
c.2132G>C (p.Gly711Ala)
c.1680-6234G>C (n.1680-6234G>C)
c.2228G>C (p.Gly743Ala)
c.2294G>C (p.Gly765Ala)
c.2291G>C (p.Gly764Ala)
c.2264G>C (p.Gly755Ala)
c.2183G>C (p.Gly728Ala)
c.2168G>C (p.Gly723Ala)
c.1775G>C (p.Gly592Ala)
c.2237G>C (p.Gly746Ala)
c.2171G>C (p.Gly724Ala)
c.2129G>C (p.Gly710Ala)
c.1202G>C (p.Gly401Ala)
20g.63407077C>TCA409638647KCNQ2c.2240G>A (p.Gly747Asp)
c.2186G>A (p.Gly729Asp)
c.1583G>A (p.Gly528Asp)
c.2093G>A (p.Gly698Asp)
c.1754G>A (p.Gly585Asp)
c.2102G>A (p.Gly701Asp)
c.2210G>A (p.Gly737Asp)
c.2174G>A (p.Gly725Asp)
c.2132G>A (p.Gly711Asp)
c.1680-6234G>A (n.1680-6234G>A)
c.2228G>A (p.Gly743Asp)
c.2294G>A (p.Gly765Asp)
c.2291G>A (p.Gly764Asp)
c.2264G>A (p.Gly755Asp)
c.2183G>A (p.Gly728Asp)
c.2168G>A (p.Gly723Asp)
c.1775G>A (p.Gly592Asp)
c.2237G>A (p.Gly746Asp)
c.2171G>A (p.Gly724Asp)
c.2129G>A (p.Gly710Asp)
c.1202G>A (p.Gly401Asp)
 gnomAD v4
20g.63407078C>ACA409638655KCNQ2c.2239G>T (p.Gly747Cys)
c.2185G>T (p.Gly729Cys)
c.1582G>T (p.Gly528Cys)
c.2092G>T (p.Gly698Cys)
c.1753G>T (p.Gly585Cys)
c.2101G>T (p.Gly701Cys)
c.2209G>T (p.Gly737Cys)
c.2173G>T (p.Gly725Cys)
c.2131G>T (p.Gly711Cys)
c.1680-6235G>T (n.1680-6235G>T)
c.2227G>T (p.Gly743Cys)
c.2293G>T (p.Gly765Cys)
c.2290G>T (p.Gly764Cys)
c.2263G>T (p.Gly755Cys)
c.2182G>T (p.Gly728Cys)
c.2167G>T (p.Gly723Cys)
c.1774G>T (p.Gly592Cys)
c.2236G>T (p.Gly746Cys)
c.2170G>T (p.Gly724Cys)
c.2128G>T (p.Gly710Cys)
c.1201G>T (p.Gly401Cys)
 gnomAD v4
20g.63407078C=CA2374774407KCNQ2c.2239G= (p.Gly747=)
c.2185G= (p.Gly729=)
c.1582G= (p.Gly528=)
c.2092G= (p.Gly698=)
c.1753G= (p.Gly585=)
c.2101G= (p.Gly701=)
c.2209G= (p.Gly737=)
c.2173G= (p.Gly725=)
c.2131G= (p.Gly711=)
c.1680-6235G= (n.1680-6235G=)
c.2227G= (p.Gly743=)
c.2293G= (p.Gly765=)
c.2290G= (p.Gly764=)
c.2263G= (p.Gly755=)
c.2182G= (p.Gly728=)
c.2167G= (p.Gly723=)
c.1774G= (p.Gly592=)
c.2236G= (p.Gly746=)
c.2170G= (p.Gly724=)
c.2128G= (p.Gly710=)
c.1201G= (p.Gly401=)
20g.63407078C>GCA409638652KCNQ2c.2239G>C (p.Gly747Arg)
c.2185G>C (p.Gly729Arg)
c.1582G>C (p.Gly528Arg)
c.2092G>C (p.Gly698Arg)
c.1753G>C (p.Gly585Arg)
c.2101G>C (p.Gly701Arg)
c.2209G>C (p.Gly737Arg)
c.2173G>C (p.Gly725Arg)
c.2131G>C (p.Gly711Arg)
c.1680-6235G>C (n.1680-6235G>C)
c.2227G>C (p.Gly743Arg)
c.2293G>C (p.Gly765Arg)
c.2290G>C (p.Gly764Arg)
c.2263G>C (p.Gly755Arg)
c.2182G>C (p.Gly728Arg)
c.2167G>C (p.Gly723Arg)
c.1774G>C (p.Gly592Arg)
c.2236G>C (p.Gly746Arg)
c.2170G>C (p.Gly724Arg)
c.2128G>C (p.Gly710Arg)
c.1201G>C (p.Gly401Arg)
20g.63407078C>TCA317422158KCNQ2c.2239G>A (p.Gly747Ser)
c.2185G>A (p.Gly729Ser)
c.1582G>A (p.Gly528Ser)
c.2092G>A (p.Gly698Ser)
c.1753G>A (p.Gly585Ser)
c.2101G>A (p.Gly701Ser)
c.2209G>A (p.Gly737Ser)
c.2173G>A (p.Gly725Ser)
c.2131G>A (p.Gly711Ser)
c.1680-6235G>A (n.1680-6235G>A)
c.2227G>A (p.Gly743Ser)
c.2293G>A (p.Gly765Ser)
c.2290G>A (p.Gly764Ser)
c.2263G>A (p.Gly755Ser)
c.2182G>A (p.Gly728Ser)
c.2167G>A (p.Gly723Ser)
c.1774G>A (p.Gly592Ser)
c.2236G>A (p.Gly746Ser)
c.2170G>A (p.Gly724Ser)
c.2128G>A (p.Gly710Ser)
c.1201G>A (p.Gly401Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407079G>ACA9958132KCNQ2c.2238C>T (p.His746=)
c.2184C>T (p.His728=)
c.1581C>T (p.His527=)
c.2091C>T (p.His697=)
c.1752C>T (p.His584=)
c.2100C>T (p.His700=)
c.2208C>T (p.His736=)
c.2172C>T (p.His724=)
c.2130C>T (p.His710=)
c.1680-6236C>T (n.1680-6236C>T)
c.2226C>T (p.His742=)
c.2292C>T (p.His764=)
c.2289C>T (p.His763=)
c.2262C>T (p.His754=)
c.2181C>T (p.His727=)
c.2166C>T (p.His722=)
c.1773C>T (p.His591=)
c.2235C>T (p.His745=)
c.2169C>T (p.His723=)
c.2127C>T (p.His709=)
c.1200C>T (p.His400=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407079G>CCA409638665KCNQ2c.2238C>G (p.His746Gln)
c.2184C>G (p.His728Gln)
c.1581C>G (p.His527Gln)
c.2091C>G (p.His697Gln)
c.1752C>G (p.His584Gln)
c.2100C>G (p.His700Gln)
c.2208C>G (p.His736Gln)
c.2172C>G (p.His724Gln)
c.2130C>G (p.His710Gln)
c.1680-6236C>G (n.1680-6236C>G)
c.2226C>G (p.His742Gln)
c.2292C>G (p.His764Gln)
c.2289C>G (p.His763Gln)
c.2262C>G (p.His754Gln)
c.2181C>G (p.His727Gln)
c.2166C>G (p.His722Gln)
c.1773C>G (p.His591Gln)
c.2235C>G (p.His745Gln)
c.2169C>G (p.His723Gln)
c.2127C>G (p.His709Gln)
c.1200C>G (p.His400Gln)
 gnomAD v2 gnomAD v4
20g.63407079G=CA2374774408KCNQ2c.2238C= (p.His746=)
c.2184C= (p.His728=)
c.1581C= (p.His527=)
c.2091C= (p.His697=)
c.1752C= (p.His584=)
c.2100C= (p.His700=)
c.2208C= (p.His736=)
c.2172C= (p.His724=)
c.2130C= (p.His710=)
c.1680-6236C= (n.1680-6236C=)
c.2226C= (p.His742=)
c.2292C= (p.His764=)
c.2289C= (p.His763=)
c.2262C= (p.His754=)
c.2181C= (p.His727=)
c.2166C= (p.His722=)
c.1773C= (p.His591=)
c.2235C= (p.His745=)
c.2169C= (p.His723=)
c.2127C= (p.His709=)
c.1200C= (p.His400=)
20g.63407079G>TCA409638662KCNQ2c.2238C>A (p.His746Gln)
c.2184C>A (p.His728Gln)
c.1581C>A (p.His527Gln)
c.2091C>A (p.His697Gln)
c.1752C>A (p.His584Gln)
c.2100C>A (p.His700Gln)
c.2208C>A (p.His736Gln)
c.2172C>A (p.His724Gln)
c.2130C>A (p.His710Gln)
c.1680-6236C>A (n.1680-6236C>A)
c.2226C>A (p.His742Gln)
c.2292C>A (p.His764Gln)
c.2289C>A (p.His763Gln)
c.2262C>A (p.His754Gln)
c.2181C>A (p.His727Gln)
c.2166C>A (p.His722Gln)
c.1773C>A (p.His591Gln)
c.2235C>A (p.His745Gln)
c.2169C>A (p.His723Gln)
c.2127C>A (p.His709Gln)
c.1200C>A (p.His400Gln)
 gnomAD v4
20g.63407080T>ACA409638668KCNQ2c.2237A>T (p.His746Leu)
c.2183A>T (p.His728Leu)
c.1580A>T (p.His527Leu)
c.2090A>T (p.His697Leu)
c.1751A>T (p.His584Leu)
c.2099A>T (p.His700Leu)
c.2207A>T (p.His736Leu)
c.2171A>T (p.His724Leu)
c.2129A>T (p.His710Leu)
c.1680-6237A>T (n.1680-6237A>T)
c.2225A>T (p.His742Leu)
c.2291A>T (p.His764Leu)
c.2288A>T (p.His763Leu)
c.2261A>T (p.His754Leu)
c.2180A>T (p.His727Leu)
c.2165A>T (p.His722Leu)
c.1772A>T (p.His591Leu)
c.2234A>T (p.His745Leu)
c.2168A>T (p.His723Leu)
c.2126A>T (p.His709Leu)
c.1199A>T (p.His400Leu)
20g.63407080T>CCA409638673KCNQ2c.2237A>G (p.His746Arg)
c.2183A>G (p.His728Arg)
c.1580A>G (p.His527Arg)
c.2090A>G (p.His697Arg)
c.1751A>G (p.His584Arg)
c.2099A>G (p.His700Arg)
c.2207A>G (p.His736Arg)
c.2171A>G (p.His724Arg)
c.2129A>G (p.His710Arg)
c.1680-6237A>G (n.1680-6237A>G)
c.2225A>G (p.His742Arg)
c.2291A>G (p.His764Arg)
c.2288A>G (p.His763Arg)
c.2261A>G (p.His754Arg)
c.2180A>G (p.His727Arg)
c.2165A>G (p.His722Arg)
c.1772A>G (p.His591Arg)
c.2234A>G (p.His745Arg)
c.2168A>G (p.His723Arg)
c.2126A>G (p.His709Arg)
c.1199A>G (p.His400Arg)
20g.63407080T>GCA409638671KCNQ2c.2237A>C (p.His746Pro)
c.2183A>C (p.His728Pro)
c.1580A>C (p.His527Pro)
c.2090A>C (p.His697Pro)
c.1751A>C (p.His584Pro)
c.2099A>C (p.His700Pro)
c.2207A>C (p.His736Pro)
c.2171A>C (p.His724Pro)
c.2129A>C (p.His710Pro)
c.1680-6237A>C (n.1680-6237A>C)
c.2225A>C (p.His742Pro)
c.2291A>C (p.His764Pro)
c.2288A>C (p.His763Pro)
c.2261A>C (p.His754Pro)
c.2180A>C (p.His727Pro)
c.2165A>C (p.His722Pro)
c.1772A>C (p.His591Pro)
c.2234A>C (p.His745Pro)
c.2168A>C (p.His723Pro)
c.2126A>C (p.His709Pro)
c.1199A>C (p.His400Pro)
20g.63407081G>ACA409638675KCNQ2c.2236C>T (p.His746Tyr)
c.2182C>T (p.His728Tyr)
c.1579C>T (p.His527Tyr)
c.2089C>T (p.His697Tyr)
c.1750C>T (p.His584Tyr)
c.2098C>T (p.His700Tyr)
c.2206C>T (p.His736Tyr)
c.2170C>T (p.His724Tyr)
c.2128C>T (p.His710Tyr)
c.1680-6238C>T (n.1680-6238C>T)
c.2224C>T (p.His742Tyr)
c.2290C>T (p.His764Tyr)
c.2287C>T (p.His763Tyr)
c.2260C>T (p.His754Tyr)
c.2179C>T (p.His727Tyr)
c.2164C>T (p.His722Tyr)
c.1771C>T (p.His591Tyr)
c.2233C>T (p.His745Tyr)
c.2167C>T (p.His723Tyr)
c.2125C>T (p.His709Tyr)
c.1198C>T (p.His400Tyr)
20g.63407081G>CCA409638678KCNQ2c.2236C>G (p.His746Asp)
c.2182C>G (p.His728Asp)
c.1579C>G (p.His527Asp)
c.2089C>G (p.His697Asp)
c.1750C>G (p.His584Asp)
c.2098C>G (p.His700Asp)
c.2206C>G (p.His736Asp)
c.2170C>G (p.His724Asp)
c.2128C>G (p.His710Asp)
c.1680-6238C>G (n.1680-6238C>G)
c.2224C>G (p.His742Asp)
c.2290C>G (p.His764Asp)
c.2287C>G (p.His763Asp)
c.2260C>G (p.His754Asp)
c.2179C>G (p.His727Asp)
c.2164C>G (p.His722Asp)
c.1771C>G (p.His591Asp)
c.2233C>G (p.His745Asp)
c.2167C>G (p.His723Asp)
c.2125C>G (p.His709Asp)
c.1198C>G (p.His400Asp)
20g.63407081G>TCA409638681KCNQ2c.2236C>A (p.His746Asn)
c.2182C>A (p.His728Asn)
c.1579C>A (p.His527Asn)
c.2089C>A (p.His697Asn)
c.1750C>A (p.His584Asn)
c.2098C>A (p.His700Asn)
c.2206C>A (p.His736Asn)
c.2170C>A (p.His724Asn)
c.2128C>A (p.His710Asn)
c.1680-6238C>A (n.1680-6238C>A)
c.2224C>A (p.His742Asn)
c.2290C>A (p.His764Asn)
c.2287C>A (p.His763Asn)
c.2260C>A (p.His754Asn)
c.2179C>A (p.His727Asn)
c.2164C>A (p.His722Asn)
c.1771C>A (p.His591Asn)
c.2233C>A (p.His745Asn)
c.2167C>A (p.His723Asn)
c.2125C>A (p.His709Asn)
c.1198C>A (p.His400Asn)
 gnomAD v4
20g.63407082G>ACA317422163KCNQ2c.2235C>T (p.Gly745=)
c.2181C>T (p.Gly727=)
c.1578C>T (p.Gly526=)
c.2088C>T (p.Gly696=)
c.1749C>T (p.Gly583=)
c.2097C>T (p.Gly699=)
c.2205C>T (p.Gly735=)
c.2169C>T (p.Gly723=)
c.2127C>T (p.Gly709=)
c.1680-6239C>T (n.1680-6239C>T)
c.2223C>T (p.Gly741=)
c.2289C>T (p.Gly763=)
c.2286C>T (p.Gly762=)
c.2259C>T (p.Gly753=)
c.2178C>T (p.Gly726=)
c.2163C>T (p.Gly721=)
c.1770C>T (p.Gly590=)
c.2232C>T (p.Gly744=)
c.2166C>T (p.Gly722=)
c.2124C>T (p.Gly708=)
c.1197C>T (p.Gly399=)
 ClinVar dbSNP gnomAD v4
20g.63407082G>CCA511339500KCNQ2c.2235C>G (p.Gly745=)
c.2181C>G (p.Gly727=)
c.1578C>G (p.Gly526=)
c.2088C>G (p.Gly696=)
c.1749C>G (p.Gly583=)
c.2097C>G (p.Gly699=)
c.2205C>G (p.Gly735=)
c.2169C>G (p.Gly723=)
c.2127C>G (p.Gly709=)
c.1680-6239C>G (n.1680-6239C>G)
c.2223C>G (p.Gly741=)
c.2289C>G (p.Gly763=)
c.2286C>G (p.Gly762=)
c.2259C>G (p.Gly753=)
c.2178C>G (p.Gly726=)
c.2163C>G (p.Gly721=)
c.1770C>G (p.Gly590=)
c.2232C>G (p.Gly744=)
c.2166C>G (p.Gly722=)
c.2124C>G (p.Gly708=)
c.1197C>G (p.Gly399=)
20g.63407082G=CA2374774409KCNQ2c.2235C= (p.Gly745=)
c.2181C= (p.Gly727=)
c.1578C= (p.Gly526=)
c.2088C= (p.Gly696=)
c.1749C= (p.Gly583=)
c.2097C= (p.Gly699=)
c.2205C= (p.Gly735=)
c.2169C= (p.Gly723=)
c.2127C= (p.Gly709=)
c.1680-6239C= (n.1680-6239C=)
c.2223C= (p.Gly741=)
c.2289C= (p.Gly763=)
c.2286C= (p.Gly762=)
c.2259C= (p.Gly753=)
c.2178C= (p.Gly726=)
c.2163C= (p.Gly721=)
c.1770C= (p.Gly590=)
c.2232C= (p.Gly744=)
c.2166C= (p.Gly722=)
c.2124C= (p.Gly708=)
c.1197C= (p.Gly399=)
20g.63407082G>TCA511339501KCNQ2c.2235C>A (p.Gly745=)
c.2181C>A (p.Gly727=)
c.1578C>A (p.Gly526=)
c.2088C>A (p.Gly696=)
c.1749C>A (p.Gly583=)
c.2097C>A (p.Gly699=)
c.2205C>A (p.Gly735=)
c.2169C>A (p.Gly723=)
c.2127C>A (p.Gly709=)
c.1680-6239C>A (n.1680-6239C>A)
c.2223C>A (p.Gly741=)
c.2289C>A (p.Gly763=)
c.2286C>A (p.Gly762=)
c.2259C>A (p.Gly753=)
c.2178C>A (p.Gly726=)
c.2163C>A (p.Gly721=)
c.1770C>A (p.Gly590=)
c.2232C>A (p.Gly744=)
c.2166C>A (p.Gly722=)
c.2124C>A (p.Gly708=)
c.1197C>A (p.Gly399=)
 gnomAD v4
20g.63407083C>ACA409638684KCNQ2c.2234G>T (p.Gly745Val)
c.2180G>T (p.Gly727Val)
c.1577G>T (p.Gly526Val)
c.2087G>T (p.Gly696Val)
c.1748G>T (p.Gly583Val)
c.2096G>T (p.Gly699Val)
c.2204G>T (p.Gly735Val)
c.2168G>T (p.Gly723Val)
c.2126G>T (p.Gly709Val)
c.1680-6240G>T (n.1680-6240G>T)
c.2222G>T (p.Gly741Val)
c.2288G>T (p.Gly763Val)
c.2285G>T (p.Gly762Val)
c.2258G>T (p.Gly753Val)
c.2177G>T (p.Gly726Val)
c.2162G>T (p.Gly721Val)
c.1769G>T (p.Gly590Val)
c.2231G>T (p.Gly744Val)
c.2165G>T (p.Gly722Val)
c.2123G>T (p.Gly708Val)
c.1196G>T (p.Gly399Val)
 gnomAD v4
20g.63407083C=CA2374774410KCNQ2c.2234G= (p.Gly745=)
c.2180G= (p.Gly727=)
c.1577G= (p.Gly526=)
c.2087G= (p.Gly696=)
c.1748G= (p.Gly583=)
c.2096G= (p.Gly699=)
c.2204G= (p.Gly735=)
c.2168G= (p.Gly723=)
c.2126G= (p.Gly709=)
c.1680-6240G= (n.1680-6240G=)
c.2222G= (p.Gly741=)
c.2288G= (p.Gly763=)
c.2285G= (p.Gly762=)
c.2258G= (p.Gly753=)
c.2177G= (p.Gly726=)
c.2162G= (p.Gly721=)
c.1769G= (p.Gly590=)
c.2231G= (p.Gly744=)
c.2165G= (p.Gly722=)
c.2123G= (p.Gly708=)
c.1196G= (p.Gly399=)
20g.63407083C>GCA409638687KCNQ2c.2234G>C (p.Gly745Ala)
c.2180G>C (p.Gly727Ala)
c.1577G>C (p.Gly526Ala)
c.2087G>C (p.Gly696Ala)
c.1748G>C (p.Gly583Ala)
c.2096G>C (p.Gly699Ala)
c.2204G>C (p.Gly735Ala)
c.2168G>C (p.Gly723Ala)
c.2126G>C (p.Gly709Ala)
c.1680-6240G>C (n.1680-6240G>C)
c.2222G>C (p.Gly741Ala)
c.2288G>C (p.Gly763Ala)
c.2285G>C (p.Gly762Ala)
c.2258G>C (p.Gly753Ala)
c.2177G>C (p.Gly726Ala)
c.2162G>C (p.Gly721Ala)
c.1769G>C (p.Gly590Ala)
c.2231G>C (p.Gly744Ala)
c.2165G>C (p.Gly722Ala)
c.2123G>C (p.Gly708Ala)
c.1196G>C (p.Gly399Ala)
20g.63407083C>TCA409638690KCNQ2c.2234G>A (p.Gly745Asp)
c.2180G>A (p.Gly727Asp)
c.1577G>A (p.Gly526Asp)
c.2087G>A (p.Gly696Asp)
c.1748G>A (p.Gly583Asp)
c.2096G>A (p.Gly699Asp)
c.2204G>A (p.Gly735Asp)
c.2168G>A (p.Gly723Asp)
c.2126G>A (p.Gly709Asp)
c.1680-6240G>A (n.1680-6240G>A)
c.2222G>A (p.Gly741Asp)
c.2288G>A (p.Gly763Asp)
c.2285G>A (p.Gly762Asp)
c.2258G>A (p.Gly753Asp)
c.2177G>A (p.Gly726Asp)
c.2162G>A (p.Gly721Asp)
c.1769G>A (p.Gly590Asp)
c.2231G>A (p.Gly744Asp)
c.2165G>A (p.Gly722Asp)
c.2123G>A (p.Gly708Asp)
c.1196G>A (p.Gly399Asp)
 COSMIC COSMIC COSMIC
20g.63407084C>ACA409638691KCNQ2c.2233G>T (p.Gly745Cys)
c.2179G>T (p.Gly727Cys)
c.1576G>T (p.Gly526Cys)
c.2086G>T (p.Gly696Cys)
c.1747G>T (p.Gly583Cys)
c.2095G>T (p.Gly699Cys)
c.2203G>T (p.Gly735Cys)
c.2167G>T (p.Gly723Cys)
c.2125G>T (p.Gly709Cys)
c.1680-6241G>T (n.1680-6241G>T)
c.2221G>T (p.Gly741Cys)
c.2287G>T (p.Gly763Cys)
c.2284G>T (p.Gly762Cys)
c.2257G>T (p.Gly753Cys)
c.2176G>T (p.Gly726Cys)
c.2161G>T (p.Gly721Cys)
c.1768G>T (p.Gly590Cys)
c.2230G>T (p.Gly744Cys)
c.2164G>T (p.Gly722Cys)
c.2122G>T (p.Gly708Cys)
c.1195G>T (p.Gly399Cys)
 gnomAD v4
20g.63407084C=CA2374774411KCNQ2c.2233G= (p.Gly745=)
c.2179G= (p.Gly727=)
c.1576G= (p.Gly526=)
c.2086G= (p.Gly696=)
c.1747G= (p.Gly583=)
c.2095G= (p.Gly699=)
c.2203G= (p.Gly735=)
c.2167G= (p.Gly723=)
c.2125G= (p.Gly709=)
c.1680-6241G= (n.1680-6241G=)
c.2221G= (p.Gly741=)
c.2287G= (p.Gly763=)
c.2284G= (p.Gly762=)
c.2257G= (p.Gly753=)
c.2176G= (p.Gly726=)
c.2161G= (p.Gly721=)
c.1768G= (p.Gly590=)
c.2230G= (p.Gly744=)
c.2164G= (p.Gly722=)
c.2122G= (p.Gly708=)
c.1195G= (p.Gly399=)
20g.63407084C>GCA409638694KCNQ2c.2233G>C (p.Gly745Arg)
c.2179G>C (p.Gly727Arg)
c.1576G>C (p.Gly526Arg)
c.2086G>C (p.Gly696Arg)
c.1747G>C (p.Gly583Arg)
c.2095G>C (p.Gly699Arg)
c.2203G>C (p.Gly735Arg)
c.2167G>C (p.Gly723Arg)
c.2125G>C (p.Gly709Arg)
c.1680-6241G>C (n.1680-6241G>C)
c.2221G>C (p.Gly741Arg)
c.2287G>C (p.Gly763Arg)
c.2284G>C (p.Gly762Arg)
c.2257G>C (p.Gly753Arg)
c.2176G>C (p.Gly726Arg)
c.2161G>C (p.Gly721Arg)
c.1768G>C (p.Gly590Arg)
c.2230G>C (p.Gly744Arg)
c.2164G>C (p.Gly722Arg)
c.2122G>C (p.Gly708Arg)
c.1195G>C (p.Gly399Arg)
20g.63407084C>TCA9958133KCNQ2c.2233G>A (p.Gly745Ser)
c.2179G>A (p.Gly727Ser)
c.1576G>A (p.Gly526Ser)
c.2086G>A (p.Gly696Ser)
c.1747G>A (p.Gly583Ser)
c.2095G>A (p.Gly699Ser)
c.2203G>A (p.Gly735Ser)
c.2167G>A (p.Gly723Ser)
c.2125G>A (p.Gly709Ser)
c.1680-6241G>A (n.1680-6241G>A)
c.2221G>A (p.Gly741Ser)
c.2287G>A (p.Gly763Ser)
c.2284G>A (p.Gly762Ser)
c.2257G>A (p.Gly753Ser)
c.2176G>A (p.Gly726Ser)
c.2161G>A (p.Gly721Ser)
c.1768G>A (p.Gly590Ser)
c.2230G>A (p.Gly744Ser)
c.2164G>A (p.Gly722Ser)
c.2122G>A (p.Gly708Ser)
c.1195G>A (p.Gly399Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407085_63407091dupCA16616477KCNQ2c.2227_2233dup (p.Gly745AlafsTer?)
c.2173_2179dup (p.Gly727AlafsTer?)
c.1570_1576dup (p.Gly526AlafsTer?)
c.2080_2086dup (p.Gly696AlafsTer?)
c.1741_1747dup (p.Gly583AlafsTer?)
c.2089_2095dup (p.Gly699AlafsTer?)
c.2197_2203dup (p.Gly735AlafsTer?)
c.2161_2167dup (p.Gly723AlafsTer?)
c.2119_2125dup (p.Gly709AlafsTer?)
c.1680-6247_1680-6241dup (n.1680-6247_1680-6241dup)
c.2215_2221dup (p.Gly741AlafsTer?)
c.2281_2287dup (p.Gly763AlafsTer?)
c.2278_2284dup (p.Gly762AlafsTer?)
c.2251_2257dup (p.Gly753AlafsTer?)
c.2170_2176dup (p.Gly726AlafsTer?)
c.2155_2161dup (p.Gly721AlafsTer?)
c.1762_1768dup (p.Gly590AlafsTer?)
c.2224_2230dup (p.Gly744AlafsTer?)
c.2158_2164dup (p.Gly722AlafsTer?)
c.2116_2122dup (p.Gly708AlafsTer?)
c.1189_1195dup (p.Gly399AlafsTer?)
 ClinVar dbSNP
20g.63407085C>ACA409638698KCNQ2c.2232G>T (p.Gln744His)
c.2178G>T (p.Gln726His)
c.1575G>T (p.Gln525His)
c.2085G>T (p.Gln695His)
c.1746G>T (p.Gln582His)
c.2094G>T (p.Gln698His)
c.2202G>T (p.Gln734His)
c.2166G>T (p.Gln722His)
c.2124G>T (p.Gln708His)
c.1680-6242G>T (n.1680-6242G>T)
c.2220G>T (p.Gln740His)
c.2286G>T (p.Gln762His)
c.2283G>T (p.Gln761His)
c.2256G>T (p.Gln752His)
c.2175G>T (p.Gln725His)
c.2160G>T (p.Gln720His)
c.1767G>T (p.Gln589His)
c.2229G>T (p.Gln743His)
c.2163G>T (p.Gln721His)
c.2121G>T (p.Gln707His)
c.1194G>T (p.Gln398His)
 gnomAD v4
20g.63407085C>GCA409638700KCNQ2c.2232G>C (p.Gln744His)
c.2178G>C (p.Gln726His)
c.1575G>C (p.Gln525His)
c.2085G>C (p.Gln695His)
c.1746G>C (p.Gln582His)
c.2094G>C (p.Gln698His)
c.2202G>C (p.Gln734His)
c.2166G>C (p.Gln722His)
c.2124G>C (p.Gln708His)
c.1680-6242G>C (n.1680-6242G>C)
c.2220G>C (p.Gln740His)
c.2286G>C (p.Gln762His)
c.2283G>C (p.Gln761His)
c.2256G>C (p.Gln752His)
c.2175G>C (p.Gln725His)
c.2160G>C (p.Gln720His)
c.1767G>C (p.Gln589His)
c.2229G>C (p.Gln743His)
c.2163G>C (p.Gln721His)
c.2121G>C (p.Gln707His)
c.1194G>C (p.Gln398His)
20g.63407085C>TCA511339502KCNQ2c.2232G>A (p.Gln744=)
c.2178G>A (p.Gln726=)
c.1575G>A (p.Gln525=)
c.2085G>A (p.Gln695=)
c.1746G>A (p.Gln582=)
c.2094G>A (p.Gln698=)
c.2202G>A (p.Gln734=)
c.2166G>A (p.Gln722=)
c.2124G>A (p.Gln708=)
c.1680-6242G>A (n.1680-6242G>A)
c.2220G>A (p.Gln740=)
c.2286G>A (p.Gln762=)
c.2283G>A (p.Gln761=)
c.2256G>A (p.Gln752=)
c.2175G>A (p.Gln725=)
c.2160G>A (p.Gln720=)
c.1767G>A (p.Gln589=)
c.2229G>A (p.Gln743=)
c.2163G>A (p.Gln721=)
c.2121G>A (p.Gln707=)
c.1194G>A (p.Gln398=)
 ClinVar gnomAD v4
20g.63407086T>ACA409638707KCNQ2c.2231A>T (p.Gln744Leu)
c.2177A>T (p.Gln726Leu)
c.1574A>T (p.Gln525Leu)
c.2084A>T (p.Gln695Leu)
c.1745A>T (p.Gln582Leu)
c.2093A>T (p.Gln698Leu)
c.2201A>T (p.Gln734Leu)
c.2165A>T (p.Gln722Leu)
c.2123A>T (p.Gln708Leu)
c.1680-6243A>T (n.1680-6243A>T)
c.2219A>T (p.Gln740Leu)
c.2285A>T (p.Gln762Leu)
c.2282A>T (p.Gln761Leu)
c.2255A>T (p.Gln752Leu)
c.2174A>T (p.Gln725Leu)
c.2159A>T (p.Gln720Leu)
c.1766A>T (p.Gln589Leu)
c.2228A>T (p.Gln743Leu)
c.2162A>T (p.Gln721Leu)
c.2120A>T (p.Gln707Leu)
c.1193A>T (p.Gln398Leu)
20g.63407086T>CCA409638703KCNQ2c.2231A>G (p.Gln744Arg)
c.2177A>G (p.Gln726Arg)
c.1574A>G (p.Gln525Arg)
c.2084A>G (p.Gln695Arg)
c.1745A>G (p.Gln582Arg)
c.2093A>G (p.Gln698Arg)
c.2201A>G (p.Gln734Arg)
c.2165A>G (p.Gln722Arg)
c.2123A>G (p.Gln708Arg)
c.1680-6243A>G (n.1680-6243A>G)
c.2219A>G (p.Gln740Arg)
c.2285A>G (p.Gln762Arg)
c.2282A>G (p.Gln761Arg)
c.2255A>G (p.Gln752Arg)
c.2174A>G (p.Gln725Arg)
c.2159A>G (p.Gln720Arg)
c.1766A>G (p.Gln589Arg)
c.2228A>G (p.Gln743Arg)
c.2162A>G (p.Gln721Arg)
c.2120A>G (p.Gln707Arg)
c.1193A>G (p.Gln398Arg)
 gnomAD v4
20g.63407086T>GCA409638704KCNQ2c.2231A>C (p.Gln744Pro)
c.2177A>C (p.Gln726Pro)
c.1574A>C (p.Gln525Pro)
c.2084A>C (p.Gln695Pro)
c.1745A>C (p.Gln582Pro)
c.2093A>C (p.Gln698Pro)
c.2201A>C (p.Gln734Pro)
c.2165A>C (p.Gln722Pro)
c.2123A>C (p.Gln708Pro)
c.1680-6243A>C (n.1680-6243A>C)
c.2219A>C (p.Gln740Pro)
c.2285A>C (p.Gln762Pro)
c.2282A>C (p.Gln761Pro)
c.2255A>C (p.Gln752Pro)
c.2174A>C (p.Gln725Pro)
c.2159A>C (p.Gln720Pro)
c.1766A>C (p.Gln589Pro)
c.2228A>C (p.Gln743Pro)
c.2162A>C (p.Gln721Pro)
c.2120A>C (p.Gln707Pro)
c.1193A>C (p.Gln398Pro)
20g.63407087G>ACA409638709KCNQ2c.2230C>T (p.Gln744Ter)
c.2176C>T (p.Gln726Ter)
c.1573C>T (p.Gln525Ter)
c.2083C>T (p.Gln695Ter)
c.1744C>T (p.Gln582Ter)
c.2092C>T (p.Gln698Ter)
c.2200C>T (p.Gln734Ter)
c.2164C>T (p.Gln722Ter)
c.2122C>T (p.Gln708Ter)
c.1680-6244C>T (n.1680-6244C>T)
c.2218C>T (p.Gln740Ter)
c.2284C>T (p.Gln762Ter)
c.2281C>T (p.Gln761Ter)
c.2254C>T (p.Gln752Ter)
c.2173C>T (p.Gln725Ter)
c.2158C>T (p.Gln720Ter)
c.1765C>T (p.Gln589Ter)
c.2227C>T (p.Gln743Ter)
c.2161C>T (p.Gln721Ter)
c.2119C>T (p.Gln707Ter)
c.1192C>T (p.Gln398Ter)
 gnomAD v4
20g.63407087G>CCA409638711KCNQ2c.2230C>G (p.Gln744Glu)
c.2176C>G (p.Gln726Glu)
c.1573C>G (p.Gln525Glu)
c.2083C>G (p.Gln695Glu)
c.1744C>G (p.Gln582Glu)
c.2092C>G (p.Gln698Glu)
c.2200C>G (p.Gln734Glu)
c.2164C>G (p.Gln722Glu)
c.2122C>G (p.Gln708Glu)
c.1680-6244C>G (n.1680-6244C>G)
c.2218C>G (p.Gln740Glu)
c.2284C>G (p.Gln762Glu)
c.2281C>G (p.Gln761Glu)
c.2254C>G (p.Gln752Glu)
c.2173C>G (p.Gln725Glu)
c.2158C>G (p.Gln720Glu)
c.1765C>G (p.Gln589Glu)
c.2227C>G (p.Gln743Glu)
c.2161C>G (p.Gln721Glu)
c.2119C>G (p.Gln707Glu)
c.1192C>G (p.Gln398Glu)
20g.63407087G>TCA409638712KCNQ2c.2230C>A (p.Gln744Lys)
c.2176C>A (p.Gln726Lys)
c.1573C>A (p.Gln525Lys)
c.2083C>A (p.Gln695Lys)
c.1744C>A (p.Gln582Lys)
c.2092C>A (p.Gln698Lys)
c.2200C>A (p.Gln734Lys)
c.2164C>A (p.Gln722Lys)
c.2122C>A (p.Gln708Lys)
c.1680-6244C>A (n.1680-6244C>A)
c.2218C>A (p.Gln740Lys)
c.2284C>A (p.Gln762Lys)
c.2281C>A (p.Gln761Lys)
c.2254C>A (p.Gln752Lys)
c.2173C>A (p.Gln725Lys)
c.2158C>A (p.Gln720Lys)
c.1765C>A (p.Gln589Lys)
c.2227C>A (p.Gln743Lys)
c.2161C>A (p.Gln721Lys)
c.2119C>A (p.Gln707Lys)
c.1192C>A (p.Gln398Lys)
 gnomAD v4
20g.63407088G>ACA511339503KCNQ2c.2229C>T (p.Arg743=)
c.2175C>T (p.Arg725=)
c.1572C>T (p.Arg524=)
c.2082C>T (p.Arg694=)
c.1743C>T (p.Arg581=)
c.2091C>T (p.Arg697=)
c.2199C>T (p.Arg733=)
c.2163C>T (p.Arg721=)
c.2121C>T (p.Arg707=)
c.1680-6245C>T (n.1680-6245C>T)
c.2217C>T (p.Arg739=)
c.2283C>T (p.Arg761=)
c.2280C>T (p.Arg760=)
c.2253C>T (p.Arg751=)
c.2172C>T (p.Arg724=)
c.2157C>T (p.Arg719=)
c.1764C>T (p.Arg588=)
c.2226C>T (p.Arg742=)
c.2160C>T (p.Arg720=)
c.2118C>T (p.Arg706=)
c.1191C>T (p.Arg397=)
20g.63407088G>CCA511339504KCNQ2c.2229C>G (p.Arg743=)
c.2175C>G (p.Arg725=)
c.1572C>G (p.Arg524=)
c.2082C>G (p.Arg694=)
c.1743C>G (p.Arg581=)
c.2091C>G (p.Arg697=)
c.2199C>G (p.Arg733=)
c.2163C>G (p.Arg721=)
c.2121C>G (p.Arg707=)
c.1680-6245C>G (n.1680-6245C>G)
c.2217C>G (p.Arg739=)
c.2283C>G (p.Arg761=)
c.2280C>G (p.Arg760=)
c.2253C>G (p.Arg751=)
c.2172C>G (p.Arg724=)
c.2157C>G (p.Arg719=)
c.1764C>G (p.Arg588=)
c.2226C>G (p.Arg742=)
c.2160C>G (p.Arg720=)
c.2118C>G (p.Arg706=)
c.1191C>G (p.Arg397=)
20g.63407088G>TCA511339505KCNQ2c.2229C>A (p.Arg743=)
c.2175C>A (p.Arg725=)
c.1572C>A (p.Arg524=)
c.2082C>A (p.Arg694=)
c.1743C>A (p.Arg581=)
c.2091C>A (p.Arg697=)
c.2199C>A (p.Arg733=)
c.2163C>A (p.Arg721=)
c.2121C>A (p.Arg707=)
c.1680-6245C>A (n.1680-6245C>A)
c.2217C>A (p.Arg739=)
c.2283C>A (p.Arg761=)
c.2280C>A (p.Arg760=)
c.2253C>A (p.Arg751=)
c.2172C>A (p.Arg724=)
c.2157C>A (p.Arg719=)
c.1764C>A (p.Arg588=)
c.2226C>A (p.Arg742=)
c.2160C>A (p.Arg720=)
c.2118C>A (p.Arg706=)
c.1191C>A (p.Arg397=)
 gnomAD v4
20g.63407089C>ACA9958135KCNQ2c.2228G>T (p.Arg743Leu)
c.2174G>T (p.Arg725Leu)
c.1571G>T (p.Arg524Leu)
c.2081G>T (p.Arg694Leu)
c.1742G>T (p.Arg581Leu)
c.2090G>T (p.Arg697Leu)
c.2198G>T (p.Arg733Leu)
c.2162G>T (p.Arg721Leu)
c.2120G>T (p.Arg707Leu)
c.1680-6246G>T (n.1680-6246G>T)
c.2216G>T (p.Arg739Leu)
c.2282G>T (p.Arg761Leu)
c.2279G>T (p.Arg760Leu)
c.2252G>T (p.Arg751Leu)
c.2171G>T (p.Arg724Leu)
c.2156G>T (p.Arg719Leu)
c.1763G>T (p.Arg588Leu)
c.2225G>T (p.Arg742Leu)
c.2159G>T (p.Arg720Leu)
c.2117G>T (p.Arg706Leu)
c.1190G>T (p.Arg397Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407089C=CA2374774412KCNQ2c.2228G= (p.Arg743=)
c.2174G= (p.Arg725=)
c.1571G= (p.Arg524=)
c.2081G= (p.Arg694=)
c.1742G= (p.Arg581=)
c.2090G= (p.Arg697=)
c.2198G= (p.Arg733=)
c.2162G= (p.Arg721=)
c.2120G= (p.Arg707=)
c.1680-6246G= (n.1680-6246G=)
c.2216G= (p.Arg739=)
c.2282G= (p.Arg761=)
c.2279G= (p.Arg760=)
c.2252G= (p.Arg751=)
c.2171G= (p.Arg724=)
c.2156G= (p.Arg719=)
c.1763G= (p.Arg588=)
c.2225G= (p.Arg742=)
c.2159G= (p.Arg720=)
c.2117G= (p.Arg706=)
c.1190G= (p.Arg397=)
20g.63407089C>GCA317422179KCNQ2c.2228G>C (p.Arg743Pro)
c.2174G>C (p.Arg725Pro)
c.1571G>C (p.Arg524Pro)
c.2081G>C (p.Arg694Pro)
c.1742G>C (p.Arg581Pro)
c.2090G>C (p.Arg697Pro)
c.2198G>C (p.Arg733Pro)
c.2162G>C (p.Arg721Pro)
c.2120G>C (p.Arg707Pro)
c.1680-6246G>C (n.1680-6246G>C)
c.2216G>C (p.Arg739Pro)
c.2282G>C (p.Arg761Pro)
c.2279G>C (p.Arg760Pro)
c.2252G>C (p.Arg751Pro)
c.2171G>C (p.Arg724Pro)
c.2156G>C (p.Arg719Pro)
c.1763G>C (p.Arg588Pro)
c.2225G>C (p.Arg742Pro)
c.2159G>C (p.Arg720Pro)
c.2117G>C (p.Arg706Pro)
c.1190G>C (p.Arg397Pro)
 dbSNP gnomAD v4
20g.63407089C>TCA9958134KCNQ2c.2228G>A (p.Arg743His)
c.2174G>A (p.Arg725His)
c.1571G>A (p.Arg524His)
c.2081G>A (p.Arg694His)
c.1742G>A (p.Arg581His)
c.2090G>A (p.Arg697His)
c.2198G>A (p.Arg733His)
c.2162G>A (p.Arg721His)
c.2120G>A (p.Arg707His)
c.1680-6246G>A (n.1680-6246G>A)
c.2216G>A (p.Arg739His)
c.2282G>A (p.Arg761His)
c.2279G>A (p.Arg760His)
c.2252G>A (p.Arg751His)
c.2171G>A (p.Arg724His)
c.2156G>A (p.Arg719His)
c.1763G>A (p.Arg588His)
c.2225G>A (p.Arg742His)
c.2159G>A (p.Arg720His)
c.2117G>A (p.Arg706His)
c.1190G>A (p.Arg397His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407089_63407104delinsCGCGGGTGGCTCTGTGCA2374774413KCNQ2c.2213_2228delinsCACAGAGCCACCCGCG (p.Pro738=)
c.2159_2174delinsCACAGAGCCACCCGCG (p.Pro720=)
c.1556_1571delinsCACAGAGCCACCCGCG (p.Pro519=)
c.2066_2081delinsCACAGAGCCACCCGCG (p.Pro689=)
c.1727_1742delinsCACAGAGCCACCCGCG (p.Pro576=)
c.2075_2090delinsCACAGAGCCACCCGCG (p.Pro692=)
c.2183_2198delinsCACAGAGCCACCCGCG (p.Pro728=)
c.2147_2162delinsCACAGAGCCACCCGCG (p.Pro716=)
c.2105_2120delinsCACAGAGCCACCCGCG (p.Pro702=)
c.1680-6261_1680-6246delinsCACAGAGCCACCCGCG (n.1680-6261_1680-6246delinsCACAGAGCCACCCGCG)
c.2201_2216delinsCACAGAGCCACCCGCG (p.Pro734=)
c.2267_2282delinsCACAGAGCCACCCGCG (p.Pro756=)
c.2264_2279delinsCACAGAGCCACCCGCG (p.Pro755=)
c.2237_2252delinsCACAGAGCCACCCGCG (p.Pro746=)
c.2156_2171delinsCACAGAGCCACCCGCG (p.Pro719=)
c.2141_2156delinsCACAGAGCCACCCGCG (p.Pro714=)
c.1748_1763delinsCACAGAGCCACCCGCG (p.Pro583=)
c.2210_2225delinsCACAGAGCCACCCGCG (p.Pro737=)
c.2144_2159delinsCACAGAGCCACCCGCG (p.Pro715=)
c.2102_2117delinsCACAGAGCCACCCGCG (p.Pro701=)
c.1175_1190delinsCACAGAGCCACCCGCG (p.Pro392=)
20g.63407090G>ACA9958136KCNQ2c.2227C>T (p.Arg743Cys)
c.2173C>T (p.Arg725Cys)
c.1570C>T (p.Arg524Cys)
c.2080C>T (p.Arg694Cys)
c.1741C>T (p.Arg581Cys)
c.2089C>T (p.Arg697Cys)
c.2197C>T (p.Arg733Cys)
c.2161C>T (p.Arg721Cys)
c.2119C>T (p.Arg707Cys)
c.1680-6247C>T (n.1680-6247C>T)
c.2215C>T (p.Arg739Cys)
c.2281C>T (p.Arg761Cys)
c.2278C>T (p.Arg760Cys)
c.2251C>T (p.Arg751Cys)
c.2170C>T (p.Arg724Cys)
c.2155C>T (p.Arg719Cys)
c.1762C>T (p.Arg588Cys)
c.2224C>T (p.Arg742Cys)
c.2158C>T (p.Arg720Cys)
c.2116C>T (p.Arg706Cys)
c.1189C>T (p.Arg397Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407090G>CCA409638718KCNQ2c.2227C>G (p.Arg743Gly)
c.2173C>G (p.Arg725Gly)
c.1570C>G (p.Arg524Gly)
c.2080C>G (p.Arg694Gly)
c.1741C>G (p.Arg581Gly)
c.2089C>G (p.Arg697Gly)
c.2197C>G (p.Arg733Gly)
c.2161C>G (p.Arg721Gly)
c.2119C>G (p.Arg707Gly)
c.1680-6247C>G (n.1680-6247C>G)
c.2215C>G (p.Arg739Gly)
c.2281C>G (p.Arg761Gly)
c.2278C>G (p.Arg760Gly)
c.2251C>G (p.Arg751Gly)
c.2170C>G (p.Arg724Gly)
c.2155C>G (p.Arg719Gly)
c.1762C>G (p.Arg588Gly)
c.2224C>G (p.Arg742Gly)
c.2158C>G (p.Arg720Gly)
c.2116C>G (p.Arg706Gly)
c.1189C>G (p.Arg397Gly)
20g.63407090G=CA2374774414KCNQ2c.2227C= (p.Arg743=)
c.2173C= (p.Arg725=)
c.1570C= (p.Arg524=)
c.2080C= (p.Arg694=)
c.1741C= (p.Arg581=)
c.2089C= (p.Arg697=)
c.2197C= (p.Arg733=)
c.2161C= (p.Arg721=)
c.2119C= (p.Arg707=)
c.1680-6247C= (n.1680-6247C=)
c.2215C= (p.Arg739=)
c.2281C= (p.Arg761=)
c.2278C= (p.Arg760=)
c.2251C= (p.Arg751=)
c.2170C= (p.Arg724=)
c.2155C= (p.Arg719=)
c.1762C= (p.Arg588=)
c.2224C= (p.Arg742=)
c.2158C= (p.Arg720=)
c.2116C= (p.Arg706=)
c.1189C= (p.Arg397=)
20g.63407090G>TCA409638720KCNQ2c.2227C>A (p.Arg743Ser)
c.2173C>A (p.Arg725Ser)
c.1570C>A (p.Arg524Ser)
c.2080C>A (p.Arg694Ser)
c.1741C>A (p.Arg581Ser)
c.2089C>A (p.Arg697Ser)
c.2197C>A (p.Arg733Ser)
c.2161C>A (p.Arg721Ser)
c.2119C>A (p.Arg707Ser)
c.1680-6247C>A (n.1680-6247C>A)
c.2215C>A (p.Arg739Ser)
c.2281C>A (p.Arg761Ser)
c.2278C>A (p.Arg760Ser)
c.2251C>A (p.Arg751Ser)
c.2170C>A (p.Arg724Ser)
c.2155C>A (p.Arg719Ser)
c.1762C>A (p.Arg588Ser)
c.2224C>A (p.Arg742Ser)
c.2158C>A (p.Arg720Ser)
c.2116C>A (p.Arg706Ser)
c.1189C>A (p.Arg397Ser)
 gnomAD v4
20g.63407092_63407106delCA636614188KCNQ2c.2213_2227del (p.Pro738_Pro742del)
c.2159_2173del (p.Pro720_Pro724del)
c.1556_1570del (p.Pro519_Pro523del)
c.2066_2080del (p.Pro689_Pro693del)
c.1727_1741del (p.Pro576_Pro580del)
c.2075_2089del (p.Pro692_Pro696del)
c.2183_2197del (p.Pro728_Pro732del)
c.2147_2161del (p.Pro716_Pro720del)
c.2105_2119del (p.Pro702_Pro706del)
c.1680-6261_1680-6247del (n.1680-6261_1680-6247del)
c.2201_2215del (p.Pro734_Pro738del)
c.2267_2281del (p.Pro756_Pro760del)
c.2264_2278del (p.Pro755_Pro759del)
c.2237_2251del (p.Pro746_Pro750del)
c.2156_2170del (p.Pro719_Pro723del)
c.2141_2155del (p.Pro714_Pro718del)
c.1748_1762del (p.Pro583_Pro587del)
c.2210_2224del (p.Pro737_Pro741del)
c.2144_2158del (p.Pro715_Pro719del)
c.2102_2116del (p.Pro701_Pro705del)
c.1175_1189del (p.Pro392_Pro396del)
 dbSNP gnomAD v2 gnomAD v4
20g.63407091C>ACA511339506KCNQ2c.2226G>T (p.Pro742=)
c.2172G>T (p.Pro724=)
c.1569G>T (p.Pro523=)
c.2079G>T (p.Pro693=)
c.1740G>T (p.Pro580=)
c.2088G>T (p.Pro696=)
c.2196G>T (p.Pro732=)
c.2160G>T (p.Pro720=)
c.2118G>T (p.Pro706=)
c.1680-6248G>T (n.1680-6248G>T)
c.2214G>T (p.Pro738=)
c.2280G>T (p.Pro760=)
c.2277G>T (p.Pro759=)
c.2250G>T (p.Pro750=)
c.2169G>T (p.Pro723=)
c.2154G>T (p.Pro718=)
c.1761G>T (p.Pro587=)
c.2223G>T (p.Pro741=)
c.2157G>T (p.Pro719=)
c.2115G>T (p.Pro705=)
c.1188G>T (p.Pro396=)
 gnomAD v4
20g.63407091C=CA2374774415KCNQ2c.2226G= (p.Pro742=)
c.2172G= (p.Pro724=)
c.1569G= (p.Pro523=)
c.2079G= (p.Pro693=)
c.1740G= (p.Pro580=)
c.2088G= (p.Pro696=)
c.2196G= (p.Pro732=)
c.2160G= (p.Pro720=)
c.2118G= (p.Pro706=)
c.1680-6248G= (n.1680-6248G=)
c.2214G= (p.Pro738=)
c.2280G= (p.Pro760=)
c.2277G= (p.Pro759=)
c.2250G= (p.Pro750=)
c.2169G= (p.Pro723=)
c.2154G= (p.Pro718=)
c.1761G= (p.Pro587=)
c.2223G= (p.Pro741=)
c.2157G= (p.Pro719=)
c.2115G= (p.Pro705=)
c.1188G= (p.Pro396=)
20g.63407091C>GCA511339507KCNQ2c.2226G>C (p.Pro742=)
c.2172G>C (p.Pro724=)
c.1569G>C (p.Pro523=)
c.2079G>C (p.Pro693=)
c.1740G>C (p.Pro580=)
c.2088G>C (p.Pro696=)
c.2196G>C (p.Pro732=)
c.2160G>C (p.Pro720=)
c.2118G>C (p.Pro706=)
c.1680-6248G>C (n.1680-6248G>C)
c.2214G>C (p.Pro738=)
c.2280G>C (p.Pro760=)
c.2277G>C (p.Pro759=)
c.2250G>C (p.Pro750=)
c.2169G>C (p.Pro723=)
c.2154G>C (p.Pro718=)
c.1761G>C (p.Pro587=)
c.2223G>C (p.Pro741=)
c.2157G>C (p.Pro719=)
c.2115G>C (p.Pro705=)
c.1188G>C (p.Pro396=)
20g.63407091C>TCA9958137KCNQ2c.2226G>A (p.Pro742=)
c.2172G>A (p.Pro724=)
c.1569G>A (p.Pro523=)
c.2079G>A (p.Pro693=)
c.1740G>A (p.Pro580=)
c.2088G>A (p.Pro696=)
c.2196G>A (p.Pro732=)
c.2160G>A (p.Pro720=)
c.2118G>A (p.Pro706=)
c.1680-6248G>A (n.1680-6248G>A)
c.2214G>A (p.Pro738=)
c.2280G>A (p.Pro760=)
c.2277G>A (p.Pro759=)
c.2250G>A (p.Pro750=)
c.2169G>A (p.Pro723=)
c.2154G>A (p.Pro718=)
c.1761G>A (p.Pro587=)
c.2223G>A (p.Pro741=)
c.2157G>A (p.Pro719=)
c.2115G>A (p.Pro705=)
c.1188G>A (p.Pro396=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407092G>ACA9958138KCNQ2c.2225C>T (p.Pro742Leu)
c.2171C>T (p.Pro724Leu)
c.1568C>T (p.Pro523Leu)
c.2078C>T (p.Pro693Leu)
c.1739C>T (p.Pro580Leu)
c.2087C>T (p.Pro696Leu)
c.2195C>T (p.Pro732Leu)
c.2159C>T (p.Pro720Leu)
c.2117C>T (p.Pro706Leu)
c.1680-6249C>T (n.1680-6249C>T)
c.2213C>T (p.Pro738Leu)
c.2279C>T (p.Pro760Leu)
c.2276C>T (p.Pro759Leu)
c.2249C>T (p.Pro750Leu)
c.2168C>T (p.Pro723Leu)
c.2153C>T (p.Pro718Leu)
c.1760C>T (p.Pro587Leu)
c.2222C>T (p.Pro741Leu)
c.2156C>T (p.Pro719Leu)
c.2114C>T (p.Pro705Leu)
c.1187C>T (p.Pro396Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407092G>CCA409638725KCNQ2c.2225C>G (p.Pro742Arg)
c.2171C>G (p.Pro724Arg)
c.1568C>G (p.Pro523Arg)
c.2078C>G (p.Pro693Arg)
c.1739C>G (p.Pro580Arg)
c.2087C>G (p.Pro696Arg)
c.2195C>G (p.Pro732Arg)
c.2159C>G (p.Pro720Arg)
c.2117C>G (p.Pro706Arg)
c.1680-6249C>G (n.1680-6249C>G)
c.2213C>G (p.Pro738Arg)
c.2279C>G (p.Pro760Arg)
c.2276C>G (p.Pro759Arg)
c.2249C>G (p.Pro750Arg)
c.2168C>G (p.Pro723Arg)
c.2153C>G (p.Pro718Arg)
c.1760C>G (p.Pro587Arg)
c.2222C>G (p.Pro741Arg)
c.2156C>G (p.Pro719Arg)
c.2114C>G (p.Pro705Arg)
c.1187C>G (p.Pro396Arg)
20g.63407092G=CA2374774416KCNQ2c.2225C= (p.Pro742=)
c.2171C= (p.Pro724=)
c.1568C= (p.Pro523=)
c.2078C= (p.Pro693=)
c.1739C= (p.Pro580=)
c.2087C= (p.Pro696=)
c.2195C= (p.Pro732=)
c.2159C= (p.Pro720=)
c.2117C= (p.Pro706=)
c.1680-6249C= (n.1680-6249C=)
c.2213C= (p.Pro738=)
c.2279C= (p.Pro760=)
c.2276C= (p.Pro759=)
c.2249C= (p.Pro750=)
c.2168C= (p.Pro723=)
c.2153C= (p.Pro718=)
c.1760C= (p.Pro587=)
c.2222C= (p.Pro741=)
c.2156C= (p.Pro719=)
c.2114C= (p.Pro705=)
c.1187C= (p.Pro396=)
20g.63407092G>TCA409638724KCNQ2c.2225C>A (p.Pro742Gln)
c.2171C>A (p.Pro724Gln)
c.1568C>A (p.Pro523Gln)
c.2078C>A (p.Pro693Gln)
c.1739C>A (p.Pro580Gln)
c.2087C>A (p.Pro696Gln)
c.2195C>A (p.Pro732Gln)
c.2159C>A (p.Pro720Gln)
c.2117C>A (p.Pro706Gln)
c.1680-6249C>A (n.1680-6249C>A)
c.2213C>A (p.Pro738Gln)
c.2279C>A (p.Pro760Gln)
c.2276C>A (p.Pro759Gln)
c.2249C>A (p.Pro750Gln)
c.2168C>A (p.Pro723Gln)
c.2153C>A (p.Pro718Gln)
c.1760C>A (p.Pro587Gln)
c.2222C>A (p.Pro741Gln)
c.2156C>A (p.Pro719Gln)
c.2114C>A (p.Pro705Gln)
c.1187C>A (p.Pro396Gln)
 gnomAD v4
20g.63407094delCA2695230034KCNQ2c.2225del (p.Pro742ArgfsTer?)
c.2171del (p.Pro724ArgfsTer?)
c.1568del (p.Pro523ArgfsTer?)
c.2078del (p.Pro693ArgfsTer?)
c.1739del (p.Pro580ArgfsTer?)
c.2087del (p.Pro696ArgfsTer?)
c.2195del (p.Pro732ArgfsTer?)
c.2159del (p.Pro720ArgfsTer?)
c.2117del (p.Pro706ArgfsTer?)
c.1680-6249del (n.1680-6249del)
c.2213del (p.Pro738ArgfsTer?)
c.2279del (p.Pro760ArgfsTer?)
c.2276del (p.Pro759ArgfsTer?)
c.2249del (p.Pro750ArgfsTer?)
c.2168del (p.Pro723ArgfsTer?)
c.2153del (p.Pro718ArgfsTer?)
c.1760del (p.Pro587ArgfsTer?)
c.2222del (p.Pro741ArgfsTer?)
c.2156del (p.Pro719ArgfsTer?)
c.2114del (p.Pro705ArgfsTer?)
c.1187del (p.Pro396ArgfsTer?)
20g.63407093G>ACA409638728KCNQ2c.2224C>T (p.Pro742Ser)
c.2170C>T (p.Pro724Ser)
c.1567C>T (p.Pro523Ser)
c.2077C>T (p.Pro693Ser)
c.1738C>T (p.Pro580Ser)
c.2086C>T (p.Pro696Ser)
c.2194C>T (p.Pro732Ser)
c.2158C>T (p.Pro720Ser)
c.2116C>T (p.Pro706Ser)
c.1680-6250C>T (n.1680-6250C>T)
c.2212C>T (p.Pro738Ser)
c.2278C>T (p.Pro760Ser)
c.2275C>T (p.Pro759Ser)
c.2248C>T (p.Pro750Ser)
c.2167C>T (p.Pro723Ser)
c.2152C>T (p.Pro718Ser)
c.1759C>T (p.Pro587Ser)
c.2221C>T (p.Pro741Ser)
c.2155C>T (p.Pro719Ser)
c.2113C>T (p.Pro705Ser)
c.1186C>T (p.Pro396Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.63407093G>CCA409638729KCNQ2c.2224C>G (p.Pro742Ala)
c.2170C>G (p.Pro724Ala)
c.1567C>G (p.Pro523Ala)
c.2077C>G (p.Pro693Ala)
c.1738C>G (p.Pro580Ala)
c.2086C>G (p.Pro696Ala)
c.2194C>G (p.Pro732Ala)
c.2158C>G (p.Pro720Ala)
c.2116C>G (p.Pro706Ala)
c.1680-6250C>G (n.1680-6250C>G)
c.2212C>G (p.Pro738Ala)
c.2278C>G (p.Pro760Ala)
c.2275C>G (p.Pro759Ala)
c.2248C>G (p.Pro750Ala)
c.2167C>G (p.Pro723Ala)
c.2152C>G (p.Pro718Ala)
c.1759C>G (p.Pro587Ala)
c.2221C>G (p.Pro741Ala)
c.2155C>G (p.Pro719Ala)
c.2113C>G (p.Pro705Ala)
c.1186C>G (p.Pro396Ala)
20g.63407093G=CA2374774417KCNQ2c.2224C= (p.Pro742=)
c.2170C= (p.Pro724=)
c.1567C= (p.Pro523=)
c.2077C= (p.Pro693=)
c.1738C= (p.Pro580=)
c.2086C= (p.Pro696=)
c.2194C= (p.Pro732=)
c.2158C= (p.Pro720=)
c.2116C= (p.Pro706=)
c.1680-6250C= (n.1680-6250C=)
c.2212C= (p.Pro738=)
c.2278C= (p.Pro760=)
c.2275C= (p.Pro759=)
c.2248C= (p.Pro750=)
c.2167C= (p.Pro723=)
c.2152C= (p.Pro718=)
c.1759C= (p.Pro587=)
c.2221C= (p.Pro741=)
c.2155C= (p.Pro719=)
c.2113C= (p.Pro705=)
c.1186C= (p.Pro396=)
20g.63407093G>TCA409638731KCNQ2c.2224C>A (p.Pro742Thr)
c.2170C>A (p.Pro724Thr)
c.1567C>A (p.Pro523Thr)
c.2077C>A (p.Pro693Thr)
c.1738C>A (p.Pro580Thr)
c.2086C>A (p.Pro696Thr)
c.2194C>A (p.Pro732Thr)
c.2158C>A (p.Pro720Thr)
c.2116C>A (p.Pro706Thr)
c.1680-6250C>A (n.1680-6250C>A)
c.2212C>A (p.Pro738Thr)
c.2278C>A (p.Pro760Thr)
c.2275C>A (p.Pro759Thr)
c.2248C>A (p.Pro750Thr)
c.2167C>A (p.Pro723Thr)
c.2152C>A (p.Pro718Thr)
c.1759C>A (p.Pro587Thr)
c.2221C>A (p.Pro741Thr)
c.2155C>A (p.Pro719Thr)
c.2113C>A (p.Pro705Thr)
c.1186C>A (p.Pro396Thr)
20g.63407094G>ACA511339508KCNQ2c.2223C>T (p.His741=)
c.2169C>T (p.His723=)
c.1566C>T (p.His522=)
c.2076C>T (p.His692=)
c.1737C>T (p.His579=)
c.2085C>T (p.His695=)
c.2193C>T (p.His731=)
c.2157C>T (p.His719=)
c.2115C>T (p.His705=)
c.1680-6251C>T (n.1680-6251C>T)
c.2211C>T (p.His737=)
c.2277C>T (p.His759=)
c.2274C>T (p.His758=)
c.2247C>T (p.His749=)
c.2166C>T (p.His722=)
c.2151C>T (p.His717=)
c.1758C>T (p.His586=)
c.2220C>T (p.His740=)
c.2154C>T (p.His718=)
c.2112C>T (p.His704=)
c.1185C>T (p.His395=)
 gnomAD v4
20g.63407094G>CCA409638733KCNQ2c.2223C>G (p.His741Gln)
c.2169C>G (p.His723Gln)
c.1566C>G (p.His522Gln)
c.2076C>G (p.His692Gln)
c.1737C>G (p.His579Gln)
c.2085C>G (p.His695Gln)
c.2193C>G (p.His731Gln)
c.2157C>G (p.His719Gln)
c.2115C>G (p.His705Gln)
c.1680-6251C>G (n.1680-6251C>G)
c.2211C>G (p.His737Gln)
c.2277C>G (p.His759Gln)
c.2274C>G (p.His758Gln)
c.2247C>G (p.His749Gln)
c.2166C>G (p.His722Gln)
c.2151C>G (p.His717Gln)
c.1758C>G (p.His586Gln)
c.2220C>G (p.His740Gln)
c.2154C>G (p.His718Gln)
c.2112C>G (p.His704Gln)
c.1185C>G (p.His395Gln)
20g.63407094G>TCA409638735KCNQ2c.2223C>A (p.His741Gln)
c.2169C>A (p.His723Gln)
c.1566C>A (p.His522Gln)
c.2076C>A (p.His692Gln)
c.1737C>A (p.His579Gln)
c.2085C>A (p.His695Gln)
c.2193C>A (p.His731Gln)
c.2157C>A (p.His719Gln)
c.2115C>A (p.His705Gln)
c.1680-6251C>A (n.1680-6251C>A)
c.2211C>A (p.His737Gln)
c.2277C>A (p.His759Gln)
c.2274C>A (p.His758Gln)
c.2247C>A (p.His749Gln)
c.2166C>A (p.His722Gln)
c.2151C>A (p.His717Gln)
c.1758C>A (p.His586Gln)
c.2220C>A (p.His740Gln)
c.2154C>A (p.His718Gln)
c.2112C>A (p.His704Gln)
c.1185C>A (p.His395Gln)
 gnomAD v4
20g.63407095T>ACA409638738KCNQ2c.2222A>T (p.His741Leu)
c.2168A>T (p.His723Leu)
c.1565A>T (p.His522Leu)
c.2075A>T (p.His692Leu)
c.1736A>T (p.His579Leu)
c.2084A>T (p.His695Leu)
c.2192A>T (p.His731Leu)
c.2156A>T (p.His719Leu)
c.2114A>T (p.His705Leu)
c.1680-6252A>T (n.1680-6252A>T)
c.2210A>T (p.His737Leu)
c.2276A>T (p.His759Leu)
c.2273A>T (p.His758Leu)
c.2246A>T (p.His749Leu)
c.2165A>T (p.His722Leu)
c.2150A>T (p.His717Leu)
c.1757A>T (p.His586Leu)
c.2219A>T (p.His740Leu)
c.2153A>T (p.His718Leu)
c.2111A>T (p.His704Leu)
c.1184A>T (p.His395Leu)
20g.63407095T>CCA409638740KCNQ2c.2222A>G (p.His741Arg)
c.2168A>G (p.His723Arg)
c.1565A>G (p.His522Arg)
c.2075A>G (p.His692Arg)
c.1736A>G (p.His579Arg)
c.2084A>G (p.His695Arg)
c.2192A>G (p.His731Arg)
c.2156A>G (p.His719Arg)
c.2114A>G (p.His705Arg)
c.1680-6252A>G (n.1680-6252A>G)
c.2210A>G (p.His737Arg)
c.2276A>G (p.His759Arg)
c.2273A>G (p.His758Arg)
c.2246A>G (p.His749Arg)
c.2165A>G (p.His722Arg)
c.2150A>G (p.His717Arg)
c.1757A>G (p.His586Arg)
c.2219A>G (p.His740Arg)
c.2153A>G (p.His718Arg)
c.2111A>G (p.His704Arg)
c.1184A>G (p.His395Arg)
20g.63407095T>GCA409638741KCNQ2c.2222A>C (p.His741Pro)
c.2168A>C (p.His723Pro)
c.1565A>C (p.His522Pro)
c.2075A>C (p.His692Pro)
c.1736A>C (p.His579Pro)
c.2084A>C (p.His695Pro)
c.2192A>C (p.His731Pro)
c.2156A>C (p.His719Pro)
c.2114A>C (p.His705Pro)
c.1680-6252A>C (n.1680-6252A>C)
c.2210A>C (p.His737Pro)
c.2276A>C (p.His759Pro)
c.2273A>C (p.His758Pro)
c.2246A>C (p.His749Pro)
c.2165A>C (p.His722Pro)
c.2150A>C (p.His717Pro)
c.1757A>C (p.His586Pro)
c.2219A>C (p.His740Pro)
c.2153A>C (p.His718Pro)
c.2111A>C (p.His704Pro)
c.1184A>C (p.His395Pro)
20g.63407096G>ACA409638744KCNQ2c.2221C>T (p.His741Tyr)
c.2167C>T (p.His723Tyr)
c.1564C>T (p.His522Tyr)
c.2074C>T (p.His692Tyr)
c.1735C>T (p.His579Tyr)
c.2083C>T (p.His695Tyr)
c.2191C>T (p.His731Tyr)
c.2155C>T (p.His719Tyr)
c.2113C>T (p.His705Tyr)
c.1680-6253C>T (n.1680-6253C>T)
c.2209C>T (p.His737Tyr)
c.2275C>T (p.His759Tyr)
c.2272C>T (p.His758Tyr)
c.2245C>T (p.His749Tyr)
c.2164C>T (p.His722Tyr)
c.2149C>T (p.His717Tyr)
c.1756C>T (p.His586Tyr)
c.2218C>T (p.His740Tyr)
c.2152C>T (p.His718Tyr)
c.2110C>T (p.His704Tyr)
c.1183C>T (p.His395Tyr)
 dbSNP gnomAD v4
20g.63407096G>CCA409638745KCNQ2c.2221C>G (p.His741Asp)
c.2167C>G (p.His723Asp)
c.1564C>G (p.His522Asp)
c.2074C>G (p.His692Asp)
c.1735C>G (p.His579Asp)
c.2083C>G (p.His695Asp)
c.2191C>G (p.His731Asp)
c.2155C>G (p.His719Asp)
c.2113C>G (p.His705Asp)
c.1680-6253C>G (n.1680-6253C>G)
c.2209C>G (p.His737Asp)
c.2275C>G (p.His759Asp)
c.2272C>G (p.His758Asp)
c.2245C>G (p.His749Asp)
c.2164C>G (p.His722Asp)
c.2149C>G (p.His717Asp)
c.1756C>G (p.His586Asp)
c.2218C>G (p.His740Asp)
c.2152C>G (p.His718Asp)
c.2110C>G (p.His704Asp)
c.1183C>G (p.His395Asp)
 gnomAD v4
20g.63407096G=CA2374774418KCNQ2c.2221C= (p.His741=)
c.2167C= (p.His723=)
c.1564C= (p.His522=)
c.2074C= (p.His692=)
c.1735C= (p.His579=)
c.2083C= (p.His695=)
c.2191C= (p.His731=)
c.2155C= (p.His719=)
c.2113C= (p.His705=)
c.1680-6253C= (n.1680-6253C=)
c.2209C= (p.His737=)
c.2275C= (p.His759=)
c.2272C= (p.His758=)
c.2245C= (p.His749=)
c.2164C= (p.His722=)
c.2149C= (p.His717=)
c.1756C= (p.His586=)
c.2218C= (p.His740=)
c.2152C= (p.His718=)
c.2110C= (p.His704=)
c.1183C= (p.His395=)
20g.63407096G>TCA409638747KCNQ2c.2221C>A (p.His741Asn)
c.2167C>A (p.His723Asn)
c.1564C>A (p.His522Asn)
c.2074C>A (p.His692Asn)
c.1735C>A (p.His579Asn)
c.2083C>A (p.His695Asn)
c.2191C>A (p.His731Asn)
c.2155C>A (p.His719Asn)
c.2113C>A (p.His705Asn)
c.1680-6253C>A (n.1680-6253C>A)
c.2209C>A (p.His737Asn)
c.2275C>A (p.His759Asn)
c.2272C>A (p.His758Asn)
c.2245C>A (p.His749Asn)
c.2164C>A (p.His722Asn)
c.2149C>A (p.His717Asn)
c.1756C>A (p.His586Asn)
c.2218C>A (p.His740Asn)
c.2152C>A (p.His718Asn)
c.2110C>A (p.His704Asn)
c.1183C>A (p.His395Asn)
 gnomAD v4
20g.63407097G>ACA511339509KCNQ2c.2220C>T (p.Ser740=)
c.2166C>T (p.Ser722=)
c.1563C>T (p.Ser521=)
c.2073C>T (p.Ser691=)
c.1734C>T (p.Ser578=)
c.2082C>T (p.Ser694=)
c.2190C>T (p.Ser730=)
c.2154C>T (p.Ser718=)
c.2112C>T (p.Ser704=)
c.1680-6254C>T (n.1680-6254C>T)
c.2208C>T (p.Ser736=)
c.2274C>T (p.Ser758=)
c.2271C>T (p.Ser757=)
c.2244C>T (p.Ser748=)
c.2163C>T (p.Ser721=)
c.2148C>T (p.Ser716=)
c.1755C>T (p.Ser585=)
c.2217C>T (p.Ser739=)
c.2151C>T (p.Ser717=)
c.2109C>T (p.Ser703=)
c.1182C>T (p.Ser394=)
 gnomAD v4
20g.63407097G>CCA409638750KCNQ2c.2220C>G (p.Ser740Arg)
c.2166C>G (p.Ser722Arg)
c.1563C>G (p.Ser521Arg)
c.2073C>G (p.Ser691Arg)
c.1734C>G (p.Ser578Arg)
c.2082C>G (p.Ser694Arg)
c.2190C>G (p.Ser730Arg)
c.2154C>G (p.Ser718Arg)
c.2112C>G (p.Ser704Arg)
c.1680-6254C>G (n.1680-6254C>G)
c.2208C>G (p.Ser736Arg)
c.2274C>G (p.Ser758Arg)
c.2271C>G (p.Ser757Arg)
c.2244C>G (p.Ser748Arg)
c.2163C>G (p.Ser721Arg)
c.2148C>G (p.Ser716Arg)
c.1755C>G (p.Ser585Arg)
c.2217C>G (p.Ser739Arg)
c.2151C>G (p.Ser717Arg)
c.2109C>G (p.Ser703Arg)
c.1182C>G (p.Ser394Arg)
20g.63407097G>TCA409638751KCNQ2c.2220C>A (p.Ser740Arg)
c.2166C>A (p.Ser722Arg)
c.1563C>A (p.Ser521Arg)
c.2073C>A (p.Ser691Arg)
c.1734C>A (p.Ser578Arg)
c.2082C>A (p.Ser694Arg)
c.2190C>A (p.Ser730Arg)
c.2154C>A (p.Ser718Arg)
c.2112C>A (p.Ser704Arg)
c.1680-6254C>A (n.1680-6254C>A)
c.2208C>A (p.Ser736Arg)
c.2274C>A (p.Ser758Arg)
c.2271C>A (p.Ser757Arg)
c.2244C>A (p.Ser748Arg)
c.2163C>A (p.Ser721Arg)
c.2148C>A (p.Ser716Arg)
c.1755C>A (p.Ser585Arg)
c.2217C>A (p.Ser739Arg)
c.2151C>A (p.Ser717Arg)
c.2109C>A (p.Ser703Arg)
c.1182C>A (p.Ser394Arg)
 gnomAD v4
20g.63407098C>ACA409638754KCNQ2c.2219G>T (p.Ser740Ile)
c.2165G>T (p.Ser722Ile)
c.1562G>T (p.Ser521Ile)
c.2072G>T (p.Ser691Ile)
c.1733G>T (p.Ser578Ile)
c.2081G>T (p.Ser694Ile)
c.2189G>T (p.Ser730Ile)
c.2153G>T (p.Ser718Ile)
c.2111G>T (p.Ser704Ile)
c.1680-6255G>T (n.1680-6255G>T)
c.2207G>T (p.Ser736Ile)
c.2273G>T (p.Ser758Ile)
c.2270G>T (p.Ser757Ile)
c.2243G>T (p.Ser748Ile)
c.2162G>T (p.Ser721Ile)
c.2147G>T (p.Ser716Ile)
c.1754G>T (p.Ser585Ile)
c.2216G>T (p.Ser739Ile)
c.2150G>T (p.Ser717Ile)
c.2108G>T (p.Ser703Ile)
c.1181G>T (p.Ser394Ile)
 gnomAD v4
20g.63407098C=CA2374774419KCNQ2c.2219G= (p.Ser740=)
c.2165G= (p.Ser722=)
c.1562G= (p.Ser521=)
c.2072G= (p.Ser691=)
c.1733G= (p.Ser578=)
c.2081G= (p.Ser694=)
c.2189G= (p.Ser730=)
c.2153G= (p.Ser718=)
c.2111G= (p.Ser704=)
c.1680-6255G= (n.1680-6255G=)
c.2207G= (p.Ser736=)
c.2273G= (p.Ser758=)
c.2270G= (p.Ser757=)
c.2243G= (p.Ser748=)
c.2162G= (p.Ser721=)
c.2147G= (p.Ser716=)
c.1754G= (p.Ser585=)
c.2216G= (p.Ser739=)
c.2150G= (p.Ser717=)
c.2108G= (p.Ser703=)
c.1181G= (p.Ser394=)
20g.63407098C>GCA409638756KCNQ2c.2219G>C (p.Ser740Thr)
c.2165G>C (p.Ser722Thr)
c.1562G>C (p.Ser521Thr)
c.2072G>C (p.Ser691Thr)
c.1733G>C (p.Ser578Thr)
c.2081G>C (p.Ser694Thr)
c.2189G>C (p.Ser730Thr)
c.2153G>C (p.Ser718Thr)
c.2111G>C (p.Ser704Thr)
c.1680-6255G>C (n.1680-6255G>C)
c.2207G>C (p.Ser736Thr)
c.2273G>C (p.Ser758Thr)
c.2270G>C (p.Ser757Thr)
c.2243G>C (p.Ser748Thr)
c.2162G>C (p.Ser721Thr)
c.2147G>C (p.Ser716Thr)
c.1754G>C (p.Ser585Thr)
c.2216G>C (p.Ser739Thr)
c.2150G>C (p.Ser717Thr)
c.2108G>C (p.Ser703Thr)
c.1181G>C (p.Ser394Thr)
20g.63407098C>TCA317422206KCNQ2c.2219G>A (p.Ser740Asn)
c.2165G>A (p.Ser722Asn)
c.1562G>A (p.Ser521Asn)
c.2072G>A (p.Ser691Asn)
c.1733G>A (p.Ser578Asn)
c.2081G>A (p.Ser694Asn)
c.2189G>A (p.Ser730Asn)
c.2153G>A (p.Ser718Asn)
c.2111G>A (p.Ser704Asn)
c.1680-6255G>A (n.1680-6255G>A)
c.2207G>A (p.Ser736Asn)
c.2273G>A (p.Ser758Asn)
c.2270G>A (p.Ser757Asn)
c.2243G>A (p.Ser748Asn)
c.2162G>A (p.Ser721Asn)
c.2147G>A (p.Ser716Asn)
c.1754G>A (p.Ser585Asn)
c.2216G>A (p.Ser739Asn)
c.2150G>A (p.Ser717Asn)
c.2108G>A (p.Ser703Asn)
c.1181G>A (p.Ser394Asn)
 ClinVar dbSNP gnomAD v4
20g.63407099T>ACA409638759KCNQ2c.2218A>T (p.Ser740Cys)
c.2164A>T (p.Ser722Cys)
c.1561A>T (p.Ser521Cys)
c.2071A>T (p.Ser691Cys)
c.1732A>T (p.Ser578Cys)
c.2080A>T (p.Ser694Cys)
c.2188A>T (p.Ser730Cys)
c.2152A>T (p.Ser718Cys)
c.2110A>T (p.Ser704Cys)
c.1680-6256A>T (n.1680-6256A>T)
c.2206A>T (p.Ser736Cys)
c.2272A>T (p.Ser758Cys)
c.2269A>T (p.Ser757Cys)
c.2242A>T (p.Ser748Cys)
c.2161A>T (p.Ser721Cys)
c.2146A>T (p.Ser716Cys)
c.1753A>T (p.Ser585Cys)
c.2215A>T (p.Ser739Cys)
c.2149A>T (p.Ser717Cys)
c.2107A>T (p.Ser703Cys)
c.1180A>T (p.Ser394Cys)
20g.63407099T>CCA409638761KCNQ2c.2218A>G (p.Ser740Gly)
c.2164A>G (p.Ser722Gly)
c.1561A>G (p.Ser521Gly)
c.2071A>G (p.Ser691Gly)
c.1732A>G (p.Ser578Gly)
c.2080A>G (p.Ser694Gly)
c.2188A>G (p.Ser730Gly)
c.2152A>G (p.Ser718Gly)
c.2110A>G (p.Ser704Gly)
c.1680-6256A>G (n.1680-6256A>G)
c.2206A>G (p.Ser736Gly)
c.2272A>G (p.Ser758Gly)
c.2269A>G (p.Ser757Gly)
c.2242A>G (p.Ser748Gly)
c.2161A>G (p.Ser721Gly)
c.2146A>G (p.Ser716Gly)
c.1753A>G (p.Ser585Gly)
c.2215A>G (p.Ser739Gly)
c.2149A>G (p.Ser717Gly)
c.2107A>G (p.Ser703Gly)
c.1180A>G (p.Ser394Gly)
 gnomAD v4
20g.63407099T>GCA409638763KCNQ2c.2218A>C (p.Ser740Arg)
c.2164A>C (p.Ser722Arg)
c.1561A>C (p.Ser521Arg)
c.2071A>C (p.Ser691Arg)
c.1732A>C (p.Ser578Arg)
c.2080A>C (p.Ser694Arg)
c.2188A>C (p.Ser730Arg)
c.2152A>C (p.Ser718Arg)
c.2110A>C (p.Ser704Arg)
c.1680-6256A>C (n.1680-6256A>C)
c.2206A>C (p.Ser736Arg)
c.2272A>C (p.Ser758Arg)
c.2269A>C (p.Ser757Arg)
c.2242A>C (p.Ser748Arg)
c.2161A>C (p.Ser721Arg)
c.2146A>C (p.Ser716Arg)
c.1753A>C (p.Ser585Arg)
c.2215A>C (p.Ser739Arg)
c.2149A>C (p.Ser717Arg)
c.2107A>C (p.Ser703Arg)
c.1180A>C (p.Ser394Arg)
20g.63407100C>ACA409638765KCNQ2c.2217G>T (p.Gln739His)
c.2163G>T (p.Gln721His)
c.1560G>T (p.Gln520His)
c.2070G>T (p.Gln690His)
c.1731G>T (p.Gln577His)
c.2079G>T (p.Gln693His)
c.2187G>T (p.Gln729His)
c.2151G>T (p.Gln717His)
c.2109G>T (p.Gln703His)
c.1680-6257G>T (n.1680-6257G>T)
c.2205G>T (p.Gln735His)
c.2271G>T (p.Gln757His)
c.2268G>T (p.Gln756His)
c.2241G>T (p.Gln747His)
c.2160G>T (p.Gln720His)
c.2145G>T (p.Gln715His)
c.1752G>T (p.Gln584His)
c.2214G>T (p.Gln738His)
c.2148G>T (p.Gln716His)
c.2106G>T (p.Gln702His)
c.1179G>T (p.Gln393His)
 gnomAD v4
20g.63407100C>GCA409638767KCNQ2c.2217G>C (p.Gln739His)
c.2163G>C (p.Gln721His)
c.1560G>C (p.Gln520His)
c.2070G>C (p.Gln690His)
c.1731G>C (p.Gln577His)
c.2079G>C (p.Gln693His)
c.2187G>C (p.Gln729His)
c.2151G>C (p.Gln717His)
c.2109G>C (p.Gln703His)
c.1680-6257G>C (n.1680-6257G>C)
c.2205G>C (p.Gln735His)
c.2271G>C (p.Gln757His)
c.2268G>C (p.Gln756His)
c.2241G>C (p.Gln747His)
c.2160G>C (p.Gln720His)
c.2145G>C (p.Gln715His)
c.1752G>C (p.Gln584His)
c.2214G>C (p.Gln738His)
c.2148G>C (p.Gln716His)
c.2106G>C (p.Gln702His)
c.1179G>C (p.Gln393His)
20g.63407100C>TCA511339510KCNQ2c.2217G>A (p.Gln739=)
c.2163G>A (p.Gln721=)
c.1560G>A (p.Gln520=)
c.2070G>A (p.Gln690=)
c.1731G>A (p.Gln577=)
c.2079G>A (p.Gln693=)
c.2187G>A (p.Gln729=)
c.2151G>A (p.Gln717=)
c.2109G>A (p.Gln703=)
c.1680-6257G>A (n.1680-6257G>A)
c.2205G>A (p.Gln735=)
c.2271G>A (p.Gln757=)
c.2268G>A (p.Gln756=)
c.2241G>A (p.Gln747=)
c.2160G>A (p.Gln720=)
c.2145G>A (p.Gln715=)
c.1752G>A (p.Gln584=)
c.2214G>A (p.Gln738=)
c.2148G>A (p.Gln716=)
c.2106G>A (p.Gln702=)
c.1179G>A (p.Gln393=)
 gnomAD v4
20g.63407101T>ACA409638770KCNQ2c.2216A>T (p.Gln739Leu)
c.2162A>T (p.Gln721Leu)
c.1559A>T (p.Gln520Leu)
c.2069A>T (p.Gln690Leu)
c.1730A>T (p.Gln577Leu)
c.2078A>T (p.Gln693Leu)
c.2186A>T (p.Gln729Leu)
c.2150A>T (p.Gln717Leu)
c.2108A>T (p.Gln703Leu)
c.1680-6258A>T (n.1680-6258A>T)
c.2204A>T (p.Gln735Leu)
c.2270A>T (p.Gln757Leu)
c.2267A>T (p.Gln756Leu)
c.2240A>T (p.Gln747Leu)
c.2159A>T (p.Gln720Leu)
c.2144A>T (p.Gln715Leu)
c.1751A>T (p.Gln584Leu)
c.2213A>T (p.Gln738Leu)
c.2147A>T (p.Gln716Leu)
c.2105A>T (p.Gln702Leu)
c.1178A>T (p.Gln393Leu)
20g.63407101T>CCA409638771KCNQ2c.2216A>G (p.Gln739Arg)
c.2162A>G (p.Gln721Arg)
c.1559A>G (p.Gln520Arg)
c.2069A>G (p.Gln690Arg)
c.1730A>G (p.Gln577Arg)
c.2078A>G (p.Gln693Arg)
c.2186A>G (p.Gln729Arg)
c.2150A>G (p.Gln717Arg)
c.2108A>G (p.Gln703Arg)
c.1680-6258A>G (n.1680-6258A>G)
c.2204A>G (p.Gln735Arg)
c.2270A>G (p.Gln757Arg)
c.2267A>G (p.Gln756Arg)
c.2240A>G (p.Gln747Arg)
c.2159A>G (p.Gln720Arg)
c.2144A>G (p.Gln715Arg)
c.1751A>G (p.Gln584Arg)
c.2213A>G (p.Gln738Arg)
c.2147A>G (p.Gln716Arg)
c.2105A>G (p.Gln702Arg)
c.1178A>G (p.Gln393Arg)
 ClinVar gnomAD v4
20g.63407101T>GCA409638773KCNQ2c.2216A>C (p.Gln739Pro)
c.2162A>C (p.Gln721Pro)
c.1559A>C (p.Gln520Pro)
c.2069A>C (p.Gln690Pro)
c.1730A>C (p.Gln577Pro)
c.2078A>C (p.Gln693Pro)
c.2186A>C (p.Gln729Pro)
c.2150A>C (p.Gln717Pro)
c.2108A>C (p.Gln703Pro)
c.1680-6258A>C (n.1680-6258A>C)
c.2204A>C (p.Gln735Pro)
c.2270A>C (p.Gln757Pro)
c.2267A>C (p.Gln756Pro)
c.2240A>C (p.Gln747Pro)
c.2159A>C (p.Gln720Pro)
c.2144A>C (p.Gln715Pro)
c.1751A>C (p.Gln584Pro)
c.2213A>C (p.Gln738Pro)
c.2147A>C (p.Gln716Pro)
c.2105A>C (p.Gln702Pro)
c.1178A>C (p.Gln393Pro)
20g.63407102G>ACA409638775KCNQ2c.2215C>T (p.Gln739Ter)
c.2161C>T (p.Gln721Ter)
c.1558C>T (p.Gln520Ter)
c.2068C>T (p.Gln690Ter)
c.1729C>T (p.Gln577Ter)
c.2077C>T (p.Gln693Ter)
c.2185C>T (p.Gln729Ter)
c.2149C>T (p.Gln717Ter)
c.2107C>T (p.Gln703Ter)
c.1680-6259C>T (n.1680-6259C>T)
c.2203C>T (p.Gln735Ter)
c.2269C>T (p.Gln757Ter)
c.2266C>T (p.Gln756Ter)
c.2239C>T (p.Gln747Ter)
c.2158C>T (p.Gln720Ter)
c.2143C>T (p.Gln715Ter)
c.1750C>T (p.Gln584Ter)
c.2212C>T (p.Gln738Ter)
c.2146C>T (p.Gln716Ter)
c.2104C>T (p.Gln702Ter)
c.1177C>T (p.Gln393Ter)
 gnomAD v4
20g.63407102G>CCA409638777KCNQ2c.2215C>G (p.Gln739Glu)
c.2161C>G (p.Gln721Glu)
c.1558C>G (p.Gln520Glu)
c.2068C>G (p.Gln690Glu)
c.1729C>G (p.Gln577Glu)
c.2077C>G (p.Gln693Glu)
c.2185C>G (p.Gln729Glu)
c.2149C>G (p.Gln717Glu)
c.2107C>G (p.Gln703Glu)
c.1680-6259C>G (n.1680-6259C>G)
c.2203C>G (p.Gln735Glu)
c.2269C>G (p.Gln757Glu)
c.2266C>G (p.Gln756Glu)
c.2239C>G (p.Gln747Glu)
c.2158C>G (p.Gln720Glu)
c.2143C>G (p.Gln715Glu)
c.1750C>G (p.Gln584Glu)
c.2212C>G (p.Gln738Glu)
c.2146C>G (p.Gln716Glu)
c.2104C>G (p.Gln702Glu)
c.1177C>G (p.Gln393Glu)
20g.63407102G>TCA409638779KCNQ2c.2215C>A (p.Gln739Lys)
c.2161C>A (p.Gln721Lys)
c.1558C>A (p.Gln520Lys)
c.2068C>A (p.Gln690Lys)
c.1729C>A (p.Gln577Lys)
c.2077C>A (p.Gln693Lys)
c.2185C>A (p.Gln729Lys)
c.2149C>A (p.Gln717Lys)
c.2107C>A (p.Gln703Lys)
c.1680-6259C>A (n.1680-6259C>A)
c.2203C>A (p.Gln735Lys)
c.2269C>A (p.Gln757Lys)
c.2266C>A (p.Gln756Lys)
c.2239C>A (p.Gln747Lys)
c.2158C>A (p.Gln720Lys)
c.2143C>A (p.Gln715Lys)
c.1750C>A (p.Gln584Lys)
c.2212C>A (p.Gln738Lys)
c.2146C>A (p.Gln716Lys)
c.2104C>A (p.Gln702Lys)
c.1177C>A (p.Gln393Lys)
 dbSNP gnomAD v4
20g.63407103T>ACA511339511KCNQ2c.2214A>T (p.Pro738=)
c.2160A>T (p.Pro720=)
c.1557A>T (p.Pro519=)
c.2067A>T (p.Pro689=)
c.1728A>T (p.Pro576=)
c.2076A>T (p.Pro692=)
c.2184A>T (p.Pro728=)
c.2148A>T (p.Pro716=)
c.2106A>T (p.Pro702=)
c.1680-6260A>T (n.1680-6260A>T)
c.2202A>T (p.Pro734=)
c.2268A>T (p.Pro756=)
c.2265A>T (p.Pro755=)
c.2238A>T (p.Pro746=)
c.2157A>T (p.Pro719=)
c.2142A>T (p.Pro714=)
c.1749A>T (p.Pro583=)
c.2211A>T (p.Pro737=)
c.2145A>T (p.Pro715=)
c.2103A>T (p.Pro701=)
c.1176A>T (p.Pro392=)
20g.63407103T>CCA511339512KCNQ2c.2214A>G (p.Pro738=)
c.2160A>G (p.Pro720=)
c.1557A>G (p.Pro519=)
c.2067A>G (p.Pro689=)
c.1728A>G (p.Pro576=)
c.2076A>G (p.Pro692=)
c.2184A>G (p.Pro728=)
c.2148A>G (p.Pro716=)
c.2106A>G (p.Pro702=)
c.1680-6260A>G (n.1680-6260A>G)
c.2202A>G (p.Pro734=)
c.2268A>G (p.Pro756=)
c.2265A>G (p.Pro755=)
c.2238A>G (p.Pro746=)
c.2157A>G (p.Pro719=)
c.2142A>G (p.Pro714=)
c.1749A>G (p.Pro583=)
c.2211A>G (p.Pro737=)
c.2145A>G (p.Pro715=)
c.2103A>G (p.Pro701=)
c.1176A>G (p.Pro392=)
20g.63407103T>GCA511339513KCNQ2c.2214A>C (p.Pro738=)
c.2160A>C (p.Pro720=)
c.1557A>C (p.Pro519=)
c.2067A>C (p.Pro689=)
c.1728A>C (p.Pro576=)
c.2076A>C (p.Pro692=)
c.2184A>C (p.Pro728=)
c.2148A>C (p.Pro716=)
c.2106A>C (p.Pro702=)
c.1680-6260A>C (n.1680-6260A>C)
c.2202A>C (p.Pro734=)
c.2268A>C (p.Pro756=)
c.2265A>C (p.Pro755=)
c.2238A>C (p.Pro746=)
c.2157A>C (p.Pro719=)
c.2142A>C (p.Pro714=)
c.1749A>C (p.Pro583=)
c.2211A>C (p.Pro737=)
c.2145A>C (p.Pro715=)
c.2103A>C (p.Pro701=)
c.1176A>C (p.Pro392=)
20g.63407104G>ACA409638785KCNQ2c.2213C>T (p.Pro738Leu)
c.2159C>T (p.Pro720Leu)
c.1556C>T (p.Pro519Leu)
c.2066C>T (p.Pro689Leu)
c.1727C>T (p.Pro576Leu)
c.2075C>T (p.Pro692Leu)
c.2183C>T (p.Pro728Leu)
c.2147C>T (p.Pro716Leu)
c.2105C>T (p.Pro702Leu)
c.1680-6261C>T (n.1680-6261C>T)
c.2201C>T (p.Pro734Leu)
c.2267C>T (p.Pro756Leu)
c.2264C>T (p.Pro755Leu)
c.2237C>T (p.Pro746Leu)
c.2156C>T (p.Pro719Leu)
c.2141C>T (p.Pro714Leu)
c.1748C>T (p.Pro583Leu)
c.2210C>T (p.Pro737Leu)
c.2144C>T (p.Pro715Leu)
c.2102C>T (p.Pro701Leu)
c.1175C>T (p.Pro392Leu)
20g.63407104G>CCA409638783KCNQ2c.2213C>G (p.Pro738Arg)
c.2159C>G (p.Pro720Arg)
c.1556C>G (p.Pro519Arg)
c.2066C>G (p.Pro689Arg)
c.1727C>G (p.Pro576Arg)
c.2075C>G (p.Pro692Arg)
c.2183C>G (p.Pro728Arg)
c.2147C>G (p.Pro716Arg)
c.2105C>G (p.Pro702Arg)
c.1680-6261C>G (n.1680-6261C>G)
c.2201C>G (p.Pro734Arg)
c.2267C>G (p.Pro756Arg)
c.2264C>G (p.Pro755Arg)
c.2237C>G (p.Pro746Arg)
c.2156C>G (p.Pro719Arg)
c.2141C>G (p.Pro714Arg)
c.1748C>G (p.Pro583Arg)
c.2210C>G (p.Pro737Arg)
c.2144C>G (p.Pro715Arg)
c.2102C>G (p.Pro701Arg)
c.1175C>G (p.Pro392Arg)
20g.63407104G>TCA409638781KCNQ2c.2213C>A (p.Pro738Gln)
c.2159C>A (p.Pro720Gln)
c.1556C>A (p.Pro519Gln)
c.2066C>A (p.Pro689Gln)
c.1727C>A (p.Pro576Gln)
c.2075C>A (p.Pro692Gln)
c.2183C>A (p.Pro728Gln)
c.2147C>A (p.Pro716Gln)
c.2105C>A (p.Pro702Gln)
c.1680-6261C>A (n.1680-6261C>A)
c.2201C>A (p.Pro734Gln)
c.2267C>A (p.Pro756Gln)
c.2264C>A (p.Pro755Gln)
c.2237C>A (p.Pro746Gln)
c.2156C>A (p.Pro719Gln)
c.2141C>A (p.Pro714Gln)
c.1748C>A (p.Pro583Gln)
c.2210C>A (p.Pro737Gln)
c.2144C>A (p.Pro715Gln)
c.2102C>A (p.Pro701Gln)
c.1175C>A (p.Pro392Gln)
 gnomAD v4
20g.63407105G>ACA409638789KCNQ2c.2212C>T (p.Pro738Ser)
c.2158C>T (p.Pro720Ser)
c.1555C>T (p.Pro519Ser)
c.2065C>T (p.Pro689Ser)
c.1726C>T (p.Pro576Ser)
c.2074C>T (p.Pro692Ser)
c.2182C>T (p.Pro728Ser)
c.2146C>T (p.Pro716Ser)
c.2104C>T (p.Pro702Ser)
c.1680-6262C>T (n.1680-6262C>T)
c.2200C>T (p.Pro734Ser)
c.2266C>T (p.Pro756Ser)
c.2263C>T (p.Pro755Ser)
c.2236C>T (p.Pro746Ser)
c.2155C>T (p.Pro719Ser)
c.2140C>T (p.Pro714Ser)
c.1747C>T (p.Pro583Ser)
c.2209C>T (p.Pro737Ser)
c.2143C>T (p.Pro715Ser)
c.2101C>T (p.Pro701Ser)
c.1174C>T (p.Pro392Ser)
 gnomAD v4
20g.63407105G>CCA409638787KCNQ2c.2212C>G (p.Pro738Ala)
c.2158C>G (p.Pro720Ala)
c.1555C>G (p.Pro519Ala)
c.2065C>G (p.Pro689Ala)
c.1726C>G (p.Pro576Ala)
c.2074C>G (p.Pro692Ala)
c.2182C>G (p.Pro728Ala)
c.2146C>G (p.Pro716Ala)
c.2104C>G (p.Pro702Ala)
c.1680-6262C>G (n.1680-6262C>G)
c.2200C>G (p.Pro734Ala)
c.2266C>G (p.Pro756Ala)
c.2263C>G (p.Pro755Ala)
c.2236C>G (p.Pro746Ala)
c.2155C>G (p.Pro719Ala)
c.2140C>G (p.Pro714Ala)
c.1747C>G (p.Pro583Ala)
c.2209C>G (p.Pro737Ala)
c.2143C>G (p.Pro715Ala)
c.2101C>G (p.Pro701Ala)
c.1174C>G (p.Pro392Ala)
20g.63407105G>TCA409638791KCNQ2c.2212C>A (p.Pro738Thr)
c.2158C>A (p.Pro720Thr)
c.1555C>A (p.Pro519Thr)
c.2065C>A (p.Pro689Thr)
c.1726C>A (p.Pro576Thr)
c.2074C>A (p.Pro692Thr)
c.2182C>A (p.Pro728Thr)
c.2146C>A (p.Pro716Thr)
c.2104C>A (p.Pro702Thr)
c.1680-6262C>A (n.1680-6262C>A)
c.2200C>A (p.Pro734Thr)
c.2266C>A (p.Pro756Thr)
c.2263C>A (p.Pro755Thr)
c.2236C>A (p.Pro746Thr)
c.2155C>A (p.Pro719Thr)
c.2140C>A (p.Pro714Thr)
c.1747C>A (p.Pro583Thr)
c.2209C>A (p.Pro737Thr)
c.2143C>A (p.Pro715Thr)
c.2101C>A (p.Pro701Thr)
c.1174C>A (p.Pro392Thr)
 dbSNP gnomAD v4
20g.63407106C>ACA409638794KCNQ2c.2211G>T (p.Gln737His)
c.2157G>T (p.Gln719His)
c.1554G>T (p.Gln518His)
c.2064G>T (p.Gln688His)
c.1725G>T (p.Gln575His)
c.2073G>T (p.Gln691His)
c.2181G>T (p.Gln727His)
c.2145G>T (p.Gln715His)
c.2103G>T (p.Gln701His)
c.1680-6263G>T (n.1680-6263G>T)
c.2199G>T (p.Gln733His)
c.2265G>T (p.Gln755His)
c.2262G>T (p.Gln754His)
c.2235G>T (p.Gln745His)
c.2154G>T (p.Gln718His)
c.2139G>T (p.Gln713His)
c.1746G>T (p.Gln582His)
c.2208G>T (p.Gln736His)
c.2142G>T (p.Gln714His)
c.2100G>T (p.Gln700His)
c.1173G>T (p.Gln391His)
 gnomAD v4
20g.63407106C=CA2374774420KCNQ2c.2211G= (p.Gln737=)
c.2157G= (p.Gln719=)
c.1554G= (p.Gln518=)
c.2064G= (p.Gln688=)
c.1725G= (p.Gln575=)
c.2073G= (p.Gln691=)
c.2181G= (p.Gln727=)
c.2145G= (p.Gln715=)
c.2103G= (p.Gln701=)
c.1680-6263G= (n.1680-6263G=)
c.2199G= (p.Gln733=)
c.2265G= (p.Gln755=)
c.2262G= (p.Gln754=)
c.2235G= (p.Gln745=)
c.2154G= (p.Gln718=)
c.2139G= (p.Gln713=)
c.1746G= (p.Gln582=)
c.2208G= (p.Gln736=)
c.2142G= (p.Gln714=)
c.2100G= (p.Gln700=)
c.1173G= (p.Gln391=)
20g.63407106C>GCA409638795KCNQ2c.2211G>C (p.Gln737His)
c.2157G>C (p.Gln719His)
c.1554G>C (p.Gln518His)
c.2064G>C (p.Gln688His)
c.1725G>C (p.Gln575His)
c.2073G>C (p.Gln691His)
c.2181G>C (p.Gln727His)
c.2145G>C (p.Gln715His)
c.2103G>C (p.Gln701His)
c.1680-6263G>C (n.1680-6263G>C)
c.2199G>C (p.Gln733His)
c.2265G>C (p.Gln755His)
c.2262G>C (p.Gln754His)
c.2235G>C (p.Gln745His)
c.2154G>C (p.Gln718His)
c.2139G>C (p.Gln713His)
c.1746G>C (p.Gln582His)
c.2208G>C (p.Gln736His)
c.2142G>C (p.Gln714His)
c.2100G>C (p.Gln700His)
c.1173G>C (p.Gln391His)
20g.63407106C>TCA511339514KCNQ2c.2211G>A (p.Gln737=)
c.2157G>A (p.Gln719=)
c.1554G>A (p.Gln518=)
c.2064G>A (p.Gln688=)
c.1725G>A (p.Gln575=)
c.2073G>A (p.Gln691=)
c.2181G>A (p.Gln727=)
c.2145G>A (p.Gln715=)
c.2103G>A (p.Gln701=)
c.1680-6263G>A (n.1680-6263G>A)
c.2199G>A (p.Gln733=)
c.2265G>A (p.Gln755=)
c.2262G>A (p.Gln754=)
c.2235G>A (p.Gln745=)
c.2154G>A (p.Gln718=)
c.2139G>A (p.Gln713=)
c.1746G>A (p.Gln582=)
c.2208G>A (p.Gln736=)
c.2142G>A (p.Gln714=)
c.2100G>A (p.Gln700=)
c.1173G>A (p.Gln391=)
 ClinVar dbSNP gnomAD v4
20g.63407107delCA2697547449KCNQ2c.2210del (p.Gln737ArgfsTer?)
c.2156del (p.Gln719ArgfsTer?)
c.1553del (p.Gln518ArgfsTer?)
c.2063del (p.Gln688ArgfsTer?)
c.1724del (p.Gln575ArgfsTer?)
c.2072del (p.Gln691ArgfsTer?)
c.2180del (p.Gln727ArgfsTer?)
c.2144del (p.Gln715ArgfsTer?)
c.2102del (p.Gln701ArgfsTer?)
c.1680-6264del (n.1680-6264del)
c.2198del (p.Gln733ArgfsTer?)
c.2264del (p.Gln755ArgfsTer?)
c.2261del (p.Gln754ArgfsTer?)
c.2234del (p.Gln745ArgfsTer?)
c.2153del (p.Gln718ArgfsTer?)
c.2138del (p.Gln713ArgfsTer?)
c.1745del (p.Gln582ArgfsTer?)
c.2207del (p.Gln736ArgfsTer?)
c.2141del (p.Gln714ArgfsTer?)
c.2099del (p.Gln700ArgfsTer?)
c.1172del (p.Gln391ArgfsTer?)
 ClinVar
20g.63407107T>ACA409638798KCNQ2c.2210A>T (p.Gln737Leu)
c.2156A>T (p.Gln719Leu)
c.1553A>T (p.Gln518Leu)
c.2063A>T (p.Gln688Leu)
c.1724A>T (p.Gln575Leu)
c.2072A>T (p.Gln691Leu)
c.2180A>T (p.Gln727Leu)
c.2144A>T (p.Gln715Leu)
c.2102A>T (p.Gln701Leu)
c.1680-6264A>T (n.1680-6264A>T)
c.2198A>T (p.Gln733Leu)
c.2264A>T (p.Gln755Leu)
c.2261A>T (p.Gln754Leu)
c.2234A>T (p.Gln745Leu)
c.2153A>T (p.Gln718Leu)
c.2138A>T (p.Gln713Leu)
c.1745A>T (p.Gln582Leu)
c.2207A>T (p.Gln736Leu)
c.2141A>T (p.Gln714Leu)
c.2099A>T (p.Gln700Leu)
c.1172A>T (p.Gln391Leu)
20g.63407107T>CCA409638800KCNQ2c.2210A>G (p.Gln737Arg)
c.2156A>G (p.Gln719Arg)
c.1553A>G (p.Gln518Arg)
c.2063A>G (p.Gln688Arg)
c.1724A>G (p.Gln575Arg)
c.2072A>G (p.Gln691Arg)
c.2180A>G (p.Gln727Arg)
c.2144A>G (p.Gln715Arg)
c.2102A>G (p.Gln701Arg)
c.1680-6264A>G (n.1680-6264A>G)
c.2198A>G (p.Gln733Arg)
c.2264A>G (p.Gln755Arg)
c.2261A>G (p.Gln754Arg)
c.2234A>G (p.Gln745Arg)
c.2153A>G (p.Gln718Arg)
c.2138A>G (p.Gln713Arg)
c.1745A>G (p.Gln582Arg)
c.2207A>G (p.Gln736Arg)
c.2141A>G (p.Gln714Arg)
c.2099A>G (p.Gln700Arg)
c.1172A>G (p.Gln391Arg)
 gnomAD v4
20g.63407107T>GCA409638801KCNQ2c.2210A>C (p.Gln737Pro)
c.2156A>C (p.Gln719Pro)
c.1553A>C (p.Gln518Pro)
c.2063A>C (p.Gln688Pro)
c.1724A>C (p.Gln575Pro)
c.2072A>C (p.Gln691Pro)
c.2180A>C (p.Gln727Pro)
c.2144A>C (p.Gln715Pro)
c.2102A>C (p.Gln701Pro)
c.1680-6264A>C (n.1680-6264A>C)
c.2198A>C (p.Gln733Pro)
c.2264A>C (p.Gln755Pro)
c.2261A>C (p.Gln754Pro)
c.2234A>C (p.Gln745Pro)
c.2153A>C (p.Gln718Pro)
c.2138A>C (p.Gln713Pro)
c.1745A>C (p.Gln582Pro)
c.2207A>C (p.Gln736Pro)
c.2141A>C (p.Gln714Pro)
c.2099A>C (p.Gln700Pro)
c.1172A>C (p.Gln391Pro)
20g.63407108G>ACA409638805KCNQ2c.2209C>T (p.Gln737Ter)
c.2155C>T (p.Gln719Ter)
c.1552C>T (p.Gln518Ter)
c.2062C>T (p.Gln688Ter)
c.1723C>T (p.Gln575Ter)
c.2071C>T (p.Gln691Ter)
c.2179C>T (p.Gln727Ter)
c.2143C>T (p.Gln715Ter)
c.2101C>T (p.Gln701Ter)
c.1680-6265C>T (n.1680-6265C>T)
c.2197C>T (p.Gln733Ter)
c.2263C>T (p.Gln755Ter)
c.2260C>T (p.Gln754Ter)
c.2233C>T (p.Gln745Ter)
c.2152C>T (p.Gln718Ter)
c.2137C>T (p.Gln713Ter)
c.1744C>T (p.Gln582Ter)
c.2206C>T (p.Gln736Ter)
c.2140C>T (p.Gln714Ter)
c.2098C>T (p.Gln700Ter)
c.1171C>T (p.Gln391Ter)
 gnomAD v4
20g.63407108G>CCA409638806KCNQ2c.2209C>G (p.Gln737Glu)
c.2155C>G (p.Gln719Glu)
c.1552C>G (p.Gln518Glu)
c.2062C>G (p.Gln688Glu)
c.1723C>G (p.Gln575Glu)
c.2071C>G (p.Gln691Glu)
c.2179C>G (p.Gln727Glu)
c.2143C>G (p.Gln715Glu)
c.2101C>G (p.Gln701Glu)
c.1680-6265C>G (n.1680-6265C>G)
c.2197C>G (p.Gln733Glu)
c.2263C>G (p.Gln755Glu)
c.2260C>G (p.Gln754Glu)
c.2233C>G (p.Gln745Glu)
c.2152C>G (p.Gln718Glu)
c.2137C>G (p.Gln713Glu)
c.1744C>G (p.Gln582Glu)
c.2206C>G (p.Gln736Glu)
c.2140C>G (p.Gln714Glu)
c.2098C>G (p.Gln700Glu)
c.1171C>G (p.Gln391Glu)
20g.63407108G>TCA409638809KCNQ2c.2209C>A (p.Gln737Lys)
c.2155C>A (p.Gln719Lys)
c.1552C>A (p.Gln518Lys)
c.2062C>A (p.Gln688Lys)
c.1723C>A (p.Gln575Lys)
c.2071C>A (p.Gln691Lys)
c.2179C>A (p.Gln727Lys)
c.2143C>A (p.Gln715Lys)
c.2101C>A (p.Gln701Lys)
c.1680-6265C>A (n.1680-6265C>A)
c.2197C>A (p.Gln733Lys)
c.2263C>A (p.Gln755Lys)
c.2260C>A (p.Gln754Lys)
c.2233C>A (p.Gln745Lys)
c.2152C>A (p.Gln718Lys)
c.2137C>A (p.Gln713Lys)
c.1744C>A (p.Gln582Lys)
c.2206C>A (p.Gln736Lys)
c.2140C>A (p.Gln714Lys)
c.2098C>A (p.Gln700Lys)
c.1171C>A (p.Gln391Lys)
 gnomAD v4
20g.63407109C>ACA409638811KCNQ2c.2208G>T (p.Trp736Cys)
c.2154G>T (p.Trp718Cys)
c.1551G>T (p.Trp517Cys)
c.2061G>T (p.Trp687Cys)
c.1722G>T (p.Trp574Cys)
c.2070G>T (p.Trp690Cys)
c.2178G>T (p.Trp726Cys)
c.2142G>T (p.Trp714Cys)
c.2100G>T (p.Trp700Cys)
c.1680-6266G>T (n.1680-6266G>T)
c.2196G>T (p.Trp732Cys)
c.2262G>T (p.Trp754Cys)
c.2259G>T (p.Trp753Cys)
c.2232G>T (p.Trp744Cys)
c.2151G>T (p.Trp717Cys)
c.2136G>T (p.Trp712Cys)
c.1743G>T (p.Trp581Cys)
c.2205G>T (p.Trp735Cys)
c.2139G>T (p.Trp713Cys)
c.2097G>T (p.Trp699Cys)
c.1170G>T (p.Trp390Cys)
 gnomAD v4
20g.63407109C>GCA409638812KCNQ2c.2208G>C (p.Trp736Cys)
c.2154G>C (p.Trp718Cys)
c.1551G>C (p.Trp517Cys)
c.2061G>C (p.Trp687Cys)
c.1722G>C (p.Trp574Cys)
c.2070G>C (p.Trp690Cys)
c.2178G>C (p.Trp726Cys)
c.2142G>C (p.Trp714Cys)
c.2100G>C (p.Trp700Cys)
c.1680-6266G>C (n.1680-6266G>C)
c.2196G>C (p.Trp732Cys)
c.2262G>C (p.Trp754Cys)
c.2259G>C (p.Trp753Cys)
c.2232G>C (p.Trp744Cys)
c.2151G>C (p.Trp717Cys)
c.2136G>C (p.Trp712Cys)
c.1743G>C (p.Trp581Cys)
c.2205G>C (p.Trp735Cys)
c.2139G>C (p.Trp713Cys)
c.2097G>C (p.Trp699Cys)
c.1170G>C (p.Trp390Cys)
20g.63407109C>TCA409638814KCNQ2c.2208G>A (p.Trp736Ter)
c.2154G>A (p.Trp718Ter)
c.1551G>A (p.Trp517Ter)
c.2061G>A (p.Trp687Ter)
c.1722G>A (p.Trp574Ter)
c.2070G>A (p.Trp690Ter)
c.2178G>A (p.Trp726Ter)
c.2142G>A (p.Trp714Ter)
c.2100G>A (p.Trp700Ter)
c.1680-6266G>A (n.1680-6266G>A)
c.2196G>A (p.Trp732Ter)
c.2262G>A (p.Trp754Ter)
c.2259G>A (p.Trp753Ter)
c.2232G>A (p.Trp744Ter)
c.2151G>A (p.Trp717Ter)
c.2136G>A (p.Trp712Ter)
c.1743G>A (p.Trp581Ter)
c.2205G>A (p.Trp735Ter)
c.2139G>A (p.Trp713Ter)
c.2097G>A (p.Trp699Ter)
c.1170G>A (p.Trp390Ter)
 ClinVar gnomAD v4
20g.63407110C>ACA409638820KCNQ2c.2207G>T (p.Trp736Leu)
c.2153G>T (p.Trp718Leu)
c.1550G>T (p.Trp517Leu)
c.2060G>T (p.Trp687Leu)
c.1721G>T (p.Trp574Leu)
c.2069G>T (p.Trp690Leu)
c.2177G>T (p.Trp726Leu)
c.2141G>T (p.Trp714Leu)
c.2099G>T (p.Trp700Leu)
c.1680-6267G>T (n.1680-6267G>T)
c.2195G>T (p.Trp732Leu)
c.2261G>T (p.Trp754Leu)
c.2258G>T (p.Trp753Leu)
c.2231G>T (p.Trp744Leu)
c.2150G>T (p.Trp717Leu)
c.2135G>T (p.Trp712Leu)
c.1742G>T (p.Trp581Leu)
c.2204G>T (p.Trp735Leu)
c.2138G>T (p.Trp713Leu)
c.2096G>T (p.Trp699Leu)
c.1169G>T (p.Trp390Leu)
20g.63407110C>GCA409638818KCNQ2c.2207G>C (p.Trp736Ser)
c.2153G>C (p.Trp718Ser)
c.1550G>C (p.Trp517Ser)
c.2060G>C (p.Trp687Ser)
c.1721G>C (p.Trp574Ser)
c.2069G>C (p.Trp690Ser)
c.2177G>C (p.Trp726Ser)
c.2141G>C (p.Trp714Ser)
c.2099G>C (p.Trp700Ser)
c.1680-6267G>C (n.1680-6267G>C)
c.2195G>C (p.Trp732Ser)
c.2261G>C (p.Trp754Ser)
c.2258G>C (p.Trp753Ser)
c.2231G>C (p.Trp744Ser)
c.2150G>C (p.Trp717Ser)
c.2135G>C (p.Trp712Ser)
c.1742G>C (p.Trp581Ser)
c.2204G>C (p.Trp735Ser)
c.2138G>C (p.Trp713Ser)
c.2096G>C (p.Trp699Ser)
c.1169G>C (p.Trp390Ser)
20g.63407110C>TCA409638817KCNQ2c.2207G>A (p.Trp736Ter)
c.2153G>A (p.Trp718Ter)
c.1550G>A (p.Trp517Ter)
c.2060G>A (p.Trp687Ter)
c.1721G>A (p.Trp574Ter)
c.2069G>A (p.Trp690Ter)
c.2177G>A (p.Trp726Ter)
c.2141G>A (p.Trp714Ter)
c.2099G>A (p.Trp700Ter)
c.1680-6267G>A (n.1680-6267G>A)
c.2195G>A (p.Trp732Ter)
c.2261G>A (p.Trp754Ter)
c.2258G>A (p.Trp753Ter)
c.2231G>A (p.Trp744Ter)
c.2150G>A (p.Trp717Ter)
c.2135G>A (p.Trp712Ter)
c.1742G>A (p.Trp581Ter)
c.2204G>A (p.Trp735Ter)
c.2138G>A (p.Trp713Ter)
c.2096G>A (p.Trp699Ter)
c.1169G>A (p.Trp390Ter)
20g.63407110_63407113delinsCAGGCA2374774421KCNQ2c.2204_2207delinsCCTG (p.Ser735=)
c.2150_2153delinsCCTG (p.Ser717=)
c.1547_1550delinsCCTG (p.Ser516=)
c.2057_2060delinsCCTG (p.Ser686=)
c.1718_1721delinsCCTG (p.Ser573=)
c.2066_2069delinsCCTG (p.Ser689=)
c.2174_2177delinsCCTG (p.Ser725=)
c.2138_2141delinsCCTG (p.Ser713=)
c.2096_2099delinsCCTG (p.Ser699=)
c.1680-6270_1680-6267delinsCCTG (n.1680-6270_1680-6267delinsCCTG)
c.2192_2195delinsCCTG (p.Ser731=)
c.2258_2261delinsCCTG (p.Ser753=)
c.2255_2258delinsCCTG (p.Ser752=)
c.2228_2231delinsCCTG (p.Ser743=)
c.2147_2150delinsCCTG (p.Ser716=)
c.2132_2135delinsCCTG (p.Ser711=)
c.1739_1742delinsCCTG (p.Ser580=)
c.2201_2204delinsCCTG (p.Ser734=)
c.2135_2138delinsCCTG (p.Ser712=)
c.2093_2096delinsCCTG (p.Ser698=)
c.1166_1169delinsCCTG (p.Ser389=)
20g.63407111A>CCA409638822KCNQ2c.2206T>G (p.Trp736Gly)
c.2152T>G (p.Trp718Gly)
c.1549T>G (p.Trp517Gly)
c.2059T>G (p.Trp687Gly)
c.1720T>G (p.Trp574Gly)
c.2068T>G (p.Trp690Gly)
c.2176T>G (p.Trp726Gly)
c.2140T>G (p.Trp714Gly)
c.2098T>G (p.Trp700Gly)
c.1680-6268T>G (n.1680-6268T>G)
c.2194T>G (p.Trp732Gly)
c.2260T>G (p.Trp754Gly)
c.2257T>G (p.Trp753Gly)
c.2230T>G (p.Trp744Gly)
c.2149T>G (p.Trp717Gly)
c.2134T>G (p.Trp712Gly)
c.1741T>G (p.Trp581Gly)
c.2203T>G (p.Trp735Gly)
c.2137T>G (p.Trp713Gly)
c.2095T>G (p.Trp699Gly)
c.1168T>G (p.Trp390Gly)
20g.63407111A>GCA409638824KCNQ2c.2206T>C (p.Trp736Arg)
c.2152T>C (p.Trp718Arg)
c.1549T>C (p.Trp517Arg)
c.2059T>C (p.Trp687Arg)
c.1720T>C (p.Trp574Arg)
c.2068T>C (p.Trp690Arg)
c.2176T>C (p.Trp726Arg)
c.2140T>C (p.Trp714Arg)
c.2098T>C (p.Trp700Arg)
c.1680-6268T>C (n.1680-6268T>C)
c.2194T>C (p.Trp732Arg)
c.2260T>C (p.Trp754Arg)
c.2257T>C (p.Trp753Arg)
c.2230T>C (p.Trp744Arg)
c.2149T>C (p.Trp717Arg)
c.2134T>C (p.Trp712Arg)
c.1741T>C (p.Trp581Arg)
c.2203T>C (p.Trp735Arg)
c.2137T>C (p.Trp713Arg)
c.2095T>C (p.Trp699Arg)
c.1168T>C (p.Trp390Arg)
 gnomAD v4
20g.63407111A>TCA409638826KCNQ2c.2206T>A (p.Trp736Arg)
c.2152T>A (p.Trp718Arg)
c.1549T>A (p.Trp517Arg)
c.2059T>A (p.Trp687Arg)
c.1720T>A (p.Trp574Arg)
c.2068T>A (p.Trp690Arg)
c.2176T>A (p.Trp726Arg)
c.2140T>A (p.Trp714Arg)
c.2098T>A (p.Trp700Arg)
c.1680-6268T>A (n.1680-6268T>A)
c.2194T>A (p.Trp732Arg)
c.2260T>A (p.Trp754Arg)
c.2257T>A (p.Trp753Arg)
c.2230T>A (p.Trp744Arg)
c.2149T>A (p.Trp717Arg)
c.2134T>A (p.Trp712Arg)
c.1741T>A (p.Trp581Arg)
c.2203T>A (p.Trp735Arg)
c.2137T>A (p.Trp713Arg)
c.2095T>A (p.Trp699Arg)
c.1168T>A (p.Trp390Arg)
 gnomAD v4
20g.63407114_63407116delCA636614189KCNQ2c.2204_2206del (p.Ser735del)
c.2150_2152del (p.Ser717del)
c.1547_1549del (p.Ser516del)
c.2057_2059del (p.Ser686del)
c.1718_1720del (p.Ser573del)
c.2066_2068del (p.Ser689del)
c.2174_2176del (p.Ser725del)
c.2138_2140del (p.Ser713del)
c.2096_2098del (p.Ser699del)
c.1680-6270_1680-6268del (n.1680-6270_1680-6268del)
c.2192_2194del (p.Ser731del)
c.2258_2260del (p.Ser753del)
c.2255_2257del (p.Ser752del)
c.2228_2230del (p.Ser743del)
c.2147_2149del (p.Ser716del)
c.2132_2134del (p.Ser711del)
c.1739_1741del (p.Ser580del)
c.2201_2203del (p.Ser734del)
c.2135_2137del (p.Ser712del)
c.2093_2095del (p.Ser698del)
c.1166_1168del (p.Ser389del)
 dbSNP gnomAD v2 gnomAD v4
20g.63407112G>ACA511339515KCNQ2c.2205C>T (p.Ser735=)
c.2151C>T (p.Ser717=)
c.1548C>T (p.Ser516=)
c.2058C>T (p.Ser686=)
c.1719C>T (p.Ser573=)
c.2067C>T (p.Ser689=)
c.2175C>T (p.Ser725=)
c.2139C>T (p.Ser713=)
c.2097C>T (p.Ser699=)
c.1680-6269C>T (n.1680-6269C>T)
c.2193C>T (p.Ser731=)
c.2259C>T (p.Ser753=)
c.2256C>T (p.Ser752=)
c.2229C>T (p.Ser743=)
c.2148C>T (p.Ser716=)
c.2133C>T (p.Ser711=)
c.1740C>T (p.Ser580=)
c.2202C>T (p.Ser734=)
c.2136C>T (p.Ser712=)
c.2094C>T (p.Ser698=)
c.1167C>T (p.Ser389=)
 gnomAD v4
20g.63407112G>CCA511339516KCNQ2c.2205C>G (p.Ser735=)
c.2151C>G (p.Ser717=)
c.1548C>G (p.Ser516=)
c.2058C>G (p.Ser686=)
c.1719C>G (p.Ser573=)
c.2067C>G (p.Ser689=)
c.2175C>G (p.Ser725=)
c.2139C>G (p.Ser713=)
c.2097C>G (p.Ser699=)
c.1680-6269C>G (n.1680-6269C>G)
c.2193C>G (p.Ser731=)
c.2259C>G (p.Ser753=)
c.2256C>G (p.Ser752=)
c.2229C>G (p.Ser743=)
c.2148C>G (p.Ser716=)
c.2133C>G (p.Ser711=)
c.1740C>G (p.Ser580=)
c.2202C>G (p.Ser734=)
c.2136C>G (p.Ser712=)
c.2094C>G (p.Ser698=)
c.1167C>G (p.Ser389=)
20g.63407112G>TCA511339517KCNQ2c.2205C>A (p.Ser735=)
c.2151C>A (p.Ser717=)
c.1548C>A (p.Ser516=)
c.2058C>A (p.Ser686=)
c.1719C>A (p.Ser573=)
c.2067C>A (p.Ser689=)
c.2175C>A (p.Ser725=)
c.2139C>A (p.Ser713=)
c.2097C>A (p.Ser699=)
c.1680-6269C>A (n.1680-6269C>A)
c.2193C>A (p.Ser731=)
c.2259C>A (p.Ser753=)
c.2256C>A (p.Ser752=)
c.2229C>A (p.Ser743=)
c.2148C>A (p.Ser716=)
c.2133C>A (p.Ser711=)
c.1740C>A (p.Ser580=)
c.2202C>A (p.Ser734=)
c.2136C>A (p.Ser712=)
c.2094C>A (p.Ser698=)
c.1167C>A (p.Ser389=)
 gnomAD v4
20g.63407113G>ACA409638828KCNQ2c.2204C>T (p.Ser735Phe)
c.2150C>T (p.Ser717Phe)
c.1547C>T (p.Ser516Phe)
c.2057C>T (p.Ser686Phe)
c.1718C>T (p.Ser573Phe)
c.2066C>T (p.Ser689Phe)
c.2174C>T (p.Ser725Phe)
c.2138C>T (p.Ser713Phe)
c.2096C>T (p.Ser699Phe)
c.1680-6270C>T (n.1680-6270C>T)
c.2192C>T (p.Ser731Phe)
c.2258C>T (p.Ser753Phe)
c.2255C>T (p.Ser752Phe)
c.2228C>T (p.Ser743Phe)
c.2147C>T (p.Ser716Phe)
c.2132C>T (p.Ser711Phe)
c.1739C>T (p.Ser580Phe)
c.2201C>T (p.Ser734Phe)
c.2135C>T (p.Ser712Phe)
c.2093C>T (p.Ser698Phe)
c.1166C>T (p.Ser389Phe)
20g.63407113G>CCA409638829KCNQ2c.2204C>G (p.Ser735Cys)
c.2150C>G (p.Ser717Cys)
c.1547C>G (p.Ser516Cys)
c.2057C>G (p.Ser686Cys)
c.1718C>G (p.Ser573Cys)
c.2066C>G (p.Ser689Cys)
c.2174C>G (p.Ser725Cys)
c.2138C>G (p.Ser713Cys)
c.2096C>G (p.Ser699Cys)
c.1680-6270C>G (n.1680-6270C>G)
c.2192C>G (p.Ser731Cys)
c.2258C>G (p.Ser753Cys)
c.2255C>G (p.Ser752Cys)
c.2228C>G (p.Ser743Cys)
c.2147C>G (p.Ser716Cys)
c.2132C>G (p.Ser711Cys)
c.1739C>G (p.Ser580Cys)
c.2201C>G (p.Ser734Cys)
c.2135C>G (p.Ser712Cys)
c.2093C>G (p.Ser698Cys)
c.1166C>G (p.Ser389Cys)
20g.63407113G>TCA409638831KCNQ2c.2204C>A (p.Ser735Tyr)
c.2150C>A (p.Ser717Tyr)
c.1547C>A (p.Ser516Tyr)
c.2057C>A (p.Ser686Tyr)
c.1718C>A (p.Ser573Tyr)
c.2066C>A (p.Ser689Tyr)
c.2174C>A (p.Ser725Tyr)
c.2138C>A (p.Ser713Tyr)
c.2096C>A (p.Ser699Tyr)
c.1680-6270C>A (n.1680-6270C>A)
c.2192C>A (p.Ser731Tyr)
c.2258C>A (p.Ser753Tyr)
c.2255C>A (p.Ser752Tyr)
c.2228C>A (p.Ser743Tyr)
c.2147C>A (p.Ser716Tyr)
c.2132C>A (p.Ser711Tyr)
c.1739C>A (p.Ser580Tyr)
c.2201C>A (p.Ser734Tyr)
c.2135C>A (p.Ser712Tyr)
c.2093C>A (p.Ser698Tyr)
c.1166C>A (p.Ser389Tyr)
 gnomAD v4
20g.63407114A>CCA409638832KCNQ2c.2203T>G (p.Ser735Ala)
c.2149T>G (p.Ser717Ala)
c.1546T>G (p.Ser516Ala)
c.2056T>G (p.Ser686Ala)
c.1717T>G (p.Ser573Ala)
c.2065T>G (p.Ser689Ala)
c.2173T>G (p.Ser725Ala)
c.2137T>G (p.Ser713Ala)
c.2095T>G (p.Ser699Ala)
c.1680-6271T>G (n.1680-6271T>G)
c.2191T>G (p.Ser731Ala)
c.2257T>G (p.Ser753Ala)
c.2254T>G (p.Ser752Ala)
c.2227T>G (p.Ser743Ala)
c.2146T>G (p.Ser716Ala)
c.2131T>G (p.Ser711Ala)
c.1738T>G (p.Ser580Ala)
c.2200T>G (p.Ser734Ala)
c.2134T>G (p.Ser712Ala)
c.2092T>G (p.Ser698Ala)
c.1165T>G (p.Ser389Ala)
20g.63407114A>GCA409638834KCNQ2c.2203T>C (p.Ser735Pro)
c.2149T>C (p.Ser717Pro)
c.1546T>C (p.Ser516Pro)
c.2056T>C (p.Ser686Pro)
c.1717T>C (p.Ser573Pro)
c.2065T>C (p.Ser689Pro)
c.2173T>C (p.Ser725Pro)
c.2137T>C (p.Ser713Pro)
c.2095T>C (p.Ser699Pro)
c.1680-6271T>C (n.1680-6271T>C)
c.2191T>C (p.Ser731Pro)
c.2257T>C (p.Ser753Pro)
c.2254T>C (p.Ser752Pro)
c.2227T>C (p.Ser743Pro)
c.2146T>C (p.Ser716Pro)
c.2131T>C (p.Ser711Pro)
c.1738T>C (p.Ser580Pro)
c.2200T>C (p.Ser734Pro)
c.2134T>C (p.Ser712Pro)
c.2092T>C (p.Ser698Pro)
c.1165T>C (p.Ser389Pro)
 gnomAD v4
20g.63407114A>TCA409638836KCNQ2c.2203T>A (p.Ser735Thr)
c.2149T>A (p.Ser717Thr)
c.1546T>A (p.Ser516Thr)
c.2056T>A (p.Ser686Thr)
c.1717T>A (p.Ser573Thr)
c.2065T>A (p.Ser689Thr)
c.2173T>A (p.Ser725Thr)
c.2137T>A (p.Ser713Thr)
c.2095T>A (p.Ser699Thr)
c.1680-6271T>A (n.1680-6271T>A)
c.2191T>A (p.Ser731Thr)
c.2257T>A (p.Ser753Thr)
c.2254T>A (p.Ser752Thr)
c.2227T>A (p.Ser743Thr)
c.2146T>A (p.Ser716Thr)
c.2131T>A (p.Ser711Thr)
c.1738T>A (p.Ser580Thr)
c.2200T>A (p.Ser734Thr)
c.2134T>A (p.Ser712Thr)
c.2092T>A (p.Ser698Thr)
c.1165T>A (p.Ser389Thr)
 gnomAD v4
20g.63407115G>ACA511339518KCNQ2c.2202C>T (p.Thr734=)
c.2148C>T (p.Thr716=)
c.1545C>T (p.Thr515=)
c.2055C>T (p.Thr685=)
c.1716C>T (p.Thr572=)
c.2064C>T (p.Thr688=)
c.2172C>T (p.Thr724=)
c.2136C>T (p.Thr712=)
c.2094C>T (p.Thr698=)
c.1680-6272C>T (n.1680-6272C>T)
c.2190C>T (p.Thr730=)
c.2256C>T (p.Thr752=)
c.2253C>T (p.Thr751=)
c.2226C>T (p.Thr742=)
c.2145C>T (p.Thr715=)
c.2130C>T (p.Thr710=)
c.1737C>T (p.Thr579=)
c.2199C>T (p.Thr733=)
c.2133C>T (p.Thr711=)
c.2091C>T (p.Thr697=)
c.1164C>T (p.Thr388=)
 gnomAD v4
20g.63407115G>CCA511339519KCNQ2c.2202C>G (p.Thr734=)
c.2148C>G (p.Thr716=)
c.1545C>G (p.Thr515=)
c.2055C>G (p.Thr685=)
c.1716C>G (p.Thr572=)
c.2064C>G (p.Thr688=)
c.2172C>G (p.Thr724=)
c.2136C>G (p.Thr712=)
c.2094C>G (p.Thr698=)
c.1680-6272C>G (n.1680-6272C>G)
c.2190C>G (p.Thr730=)
c.2256C>G (p.Thr752=)
c.2253C>G (p.Thr751=)
c.2226C>G (p.Thr742=)
c.2145C>G (p.Thr715=)
c.2130C>G (p.Thr710=)
c.1737C>G (p.Thr579=)
c.2199C>G (p.Thr733=)
c.2133C>G (p.Thr711=)
c.2091C>G (p.Thr697=)
c.1164C>G (p.Thr388=)
20g.63407115G>TCA511339520KCNQ2c.2202C>A (p.Thr734=)
c.2148C>A (p.Thr716=)
c.1545C>A (p.Thr515=)
c.2055C>A (p.Thr685=)
c.1716C>A (p.Thr572=)
c.2064C>A (p.Thr688=)
c.2172C>A (p.Thr724=)
c.2136C>A (p.Thr712=)
c.2094C>A (p.Thr698=)
c.1680-6272C>A (n.1680-6272C>A)
c.2190C>A (p.Thr730=)
c.2256C>A (p.Thr752=)
c.2253C>A (p.Thr751=)
c.2226C>A (p.Thr742=)
c.2145C>A (p.Thr715=)
c.2130C>A (p.Thr710=)
c.1737C>A (p.Thr579=)
c.2199C>A (p.Thr733=)
c.2133C>A (p.Thr711=)
c.2091C>A (p.Thr697=)
c.1164C>A (p.Thr388=)
 gnomAD v4
20g.63407116G>ACA347943KCNQ2c.2201C>T (p.Thr734Ile)
c.2147C>T (p.Thr716Ile)
c.1544C>T (p.Thr515Ile)
c.2054C>T (p.Thr685Ile)
c.1715C>T (p.Thr572Ile)
c.2063C>T (p.Thr688Ile)
c.2171C>T (p.Thr724Ile)
c.2135C>T (p.Thr712Ile)
c.2093C>T (p.Thr698Ile)
c.1680-6273C>T (n.1680-6273C>T)
c.2189C>T (p.Thr730Ile)
c.2255C>T (p.Thr752Ile)
c.2252C>T (p.Thr751Ile)
c.2225C>T (p.Thr742Ile)
c.2144C>T (p.Thr715Ile)
c.2129C>T (p.Thr710Ile)
c.1736C>T (p.Thr579Ile)
c.2198C>T (p.Thr733Ile)
c.2132C>T (p.Thr711Ile)
c.2090C>T (p.Thr697Ile)
c.1163C>T (p.Thr388Ile)
 ClinVar dbSNP gnomAD v4
20g.63407116G>CCA409638839KCNQ2c.2201C>G (p.Thr734Ser)
c.2147C>G (p.Thr716Ser)
c.1544C>G (p.Thr515Ser)
c.2054C>G (p.Thr685Ser)
c.1715C>G (p.Thr572Ser)
c.2063C>G (p.Thr688Ser)
c.2171C>G (p.Thr724Ser)
c.2135C>G (p.Thr712Ser)
c.2093C>G (p.Thr698Ser)
c.1680-6273C>G (n.1680-6273C>G)
c.2189C>G (p.Thr730Ser)
c.2255C>G (p.Thr752Ser)
c.2252C>G (p.Thr751Ser)
c.2225C>G (p.Thr742Ser)
c.2144C>G (p.Thr715Ser)
c.2129C>G (p.Thr710Ser)
c.1736C>G (p.Thr579Ser)
c.2198C>G (p.Thr733Ser)
c.2132C>G (p.Thr711Ser)
c.2090C>G (p.Thr697Ser)
c.1163C>G (p.Thr388Ser)
20g.63407116G=CA2374774422KCNQ2c.2201C= (p.Thr734=)
c.2147C= (p.Thr716=)
c.1544C= (p.Thr515=)
c.2054C= (p.Thr685=)
c.1715C= (p.Thr572=)
c.2063C= (p.Thr688=)
c.2171C= (p.Thr724=)
c.2135C= (p.Thr712=)
c.2093C= (p.Thr698=)
c.1680-6273C= (n.1680-6273C=)
c.2189C= (p.Thr730=)
c.2255C= (p.Thr752=)
c.2252C= (p.Thr751=)
c.2225C= (p.Thr742=)
c.2144C= (p.Thr715=)
c.2129C= (p.Thr710=)
c.1736C= (p.Thr579=)
c.2198C= (p.Thr733=)
c.2132C= (p.Thr711=)
c.2090C= (p.Thr697=)
c.1163C= (p.Thr388=)
20g.63407116G>TCA409638841KCNQ2c.2201C>A (p.Thr734Asn)
c.2147C>A (p.Thr716Asn)
c.1544C>A (p.Thr515Asn)
c.2054C>A (p.Thr685Asn)
c.1715C>A (p.Thr572Asn)
c.2063C>A (p.Thr688Asn)
c.2171C>A (p.Thr724Asn)
c.2135C>A (p.Thr712Asn)
c.2093C>A (p.Thr698Asn)
c.1680-6273C>A (n.1680-6273C>A)
c.2189C>A (p.Thr730Asn)
c.2255C>A (p.Thr752Asn)
c.2252C>A (p.Thr751Asn)
c.2225C>A (p.Thr742Asn)
c.2144C>A (p.Thr715Asn)
c.2129C>A (p.Thr710Asn)
c.1736C>A (p.Thr579Asn)
c.2198C>A (p.Thr733Asn)
c.2132C>A (p.Thr711Asn)
c.2090C>A (p.Thr697Asn)
c.1163C>A (p.Thr388Asn)
 gnomAD v4
20g.63407117T>ACA409638844KCNQ2c.2200A>T (p.Thr734Ser)
c.2146A>T (p.Thr716Ser)
c.1543A>T (p.Thr515Ser)
c.2053A>T (p.Thr685Ser)
c.1714A>T (p.Thr572Ser)
c.2062A>T (p.Thr688Ser)
c.2170A>T (p.Thr724Ser)
c.2134A>T (p.Thr712Ser)
c.2092A>T (p.Thr698Ser)
c.1680-6274A>T (n.1680-6274A>T)
c.2188A>T (p.Thr730Ser)
c.2254A>T (p.Thr752Ser)
c.2251A>T (p.Thr751Ser)
c.2224A>T (p.Thr742Ser)
c.2143A>T (p.Thr715Ser)
c.2128A>T (p.Thr710Ser)
c.1735A>T (p.Thr579Ser)
c.2197A>T (p.Thr733Ser)
c.2131A>T (p.Thr711Ser)
c.2089A>T (p.Thr697Ser)
c.1162A>T (p.Thr388Ser)
20g.63407117T>CCA409638846KCNQ2c.2200A>G (p.Thr734Ala)
c.2146A>G (p.Thr716Ala)
c.1543A>G (p.Thr515Ala)
c.2053A>G (p.Thr685Ala)
c.1714A>G (p.Thr572Ala)
c.2062A>G (p.Thr688Ala)
c.2170A>G (p.Thr724Ala)
c.2134A>G (p.Thr712Ala)
c.2092A>G (p.Thr698Ala)
c.1680-6274A>G (n.1680-6274A>G)
c.2188A>G (p.Thr730Ala)
c.2254A>G (p.Thr752Ala)
c.2251A>G (p.Thr751Ala)
c.2224A>G (p.Thr742Ala)
c.2143A>G (p.Thr715Ala)
c.2128A>G (p.Thr710Ala)
c.1735A>G (p.Thr579Ala)
c.2197A>G (p.Thr733Ala)
c.2131A>G (p.Thr711Ala)
c.2089A>G (p.Thr697Ala)
c.1162A>G (p.Thr388Ala)
20g.63407117T>GCA409638843KCNQ2c.2200A>C (p.Thr734Pro)
c.2146A>C (p.Thr716Pro)
c.1543A>C (p.Thr515Pro)
c.2053A>C (p.Thr685Pro)
c.1714A>C (p.Thr572Pro)
c.2062A>C (p.Thr688Pro)
c.2170A>C (p.Thr724Pro)
c.2134A>C (p.Thr712Pro)
c.2092A>C (p.Thr698Pro)
c.1680-6274A>C (n.1680-6274A>C)
c.2188A>C (p.Thr730Pro)
c.2254A>C (p.Thr752Pro)
c.2251A>C (p.Thr751Pro)
c.2224A>C (p.Thr742Pro)
c.2143A>C (p.Thr715Pro)
c.2128A>C (p.Thr710Pro)
c.1735A>C (p.Thr579Pro)
c.2197A>C (p.Thr733Pro)
c.2131A>C (p.Thr711Pro)
c.2089A>C (p.Thr697Pro)
c.1162A>C (p.Thr388Pro)
 dbSNP gnomAD v4
20g.63407117T=CA2374774423KCNQ2c.2200A= (p.Thr734=)
c.2146A= (p.Thr716=)
c.1543A= (p.Thr515=)
c.2053A= (p.Thr685=)
c.1714A= (p.Thr572=)
c.2062A= (p.Thr688=)
c.2170A= (p.Thr724=)
c.2134A= (p.Thr712=)
c.2092A= (p.Thr698=)
c.1680-6274A= (n.1680-6274A=)
c.2188A= (p.Thr730=)
c.2254A= (p.Thr752=)
c.2251A= (p.Thr751=)
c.2224A= (p.Thr742=)
c.2143A= (p.Thr715=)
c.2128A= (p.Thr710=)
c.1735A= (p.Thr579=)
c.2197A= (p.Thr733=)
c.2131A= (p.Thr711=)
c.2089A= (p.Thr697=)
c.1162A= (p.Thr388=)
20g.63407118G>ACA511339521KCNQ2c.2199C>T (p.Ser733=)
c.2145C>T (p.Ser715=)
c.1542C>T (p.Ser514=)
c.2052C>T (p.Ser684=)
c.1713C>T (p.Ser571=)
c.2061C>T (p.Ser687=)
c.2169C>T (p.Ser723=)
c.2133C>T (p.Ser711=)
c.2091C>T (p.Ser697=)
c.1680-6275C>T (n.1680-6275C>T)
c.2187C>T (p.Ser729=)
c.2253C>T (p.Ser751=)
c.2250C>T (p.Ser750=)
c.2223C>T (p.Ser741=)
c.2142C>T (p.Ser714=)
c.2127C>T (p.Ser709=)
c.1734C>T (p.Ser578=)
c.2196C>T (p.Ser732=)
c.2130C>T (p.Ser710=)
c.2088C>T (p.Ser696=)
c.1161C>T (p.Ser387=)
 gnomAD v4
20g.63407118G>CCA511339523KCNQ2c.2199C>G (p.Ser733=)
c.2145C>G (p.Ser715=)
c.1542C>G (p.Ser514=)
c.2052C>G (p.Ser684=)
c.1713C>G (p.Ser571=)
c.2061C>G (p.Ser687=)
c.2169C>G (p.Ser723=)
c.2133C>G (p.Ser711=)
c.2091C>G (p.Ser697=)
c.1680-6275C>G (n.1680-6275C>G)
c.2187C>G (p.Ser729=)
c.2253C>G (p.Ser751=)
c.2250C>G (p.Ser750=)
c.2223C>G (p.Ser741=)
c.2142C>G (p.Ser714=)
c.2127C>G (p.Ser709=)
c.1734C>G (p.Ser578=)
c.2196C>G (p.Ser732=)
c.2130C>G (p.Ser710=)
c.2088C>G (p.Ser696=)
c.1161C>G (p.Ser387=)
 ClinVar dbSNP
20g.63407118G=CA2374774424KCNQ2c.2199C= (p.Ser733=)
c.2145C= (p.Ser715=)
c.1542C= (p.Ser514=)
c.2052C= (p.Ser684=)
c.1713C= (p.Ser571=)
c.2061C= (p.Ser687=)
c.2169C= (p.Ser723=)
c.2133C= (p.Ser711=)
c.2091C= (p.Ser697=)
c.1680-6275C= (n.1680-6275C=)
c.2187C= (p.Ser729=)
c.2253C= (p.Ser751=)
c.2250C= (p.Ser750=)
c.2223C= (p.Ser741=)
c.2142C= (p.Ser714=)
c.2127C= (p.Ser709=)
c.1734C= (p.Ser578=)
c.2196C= (p.Ser732=)
c.2130C= (p.Ser710=)
c.2088C= (p.Ser696=)
c.1161C= (p.Ser387=)
20g.63407118G>TCA511339522KCNQ2c.2199C>A (p.Ser733=)
c.2145C>A (p.Ser715=)
c.1542C>A (p.Ser514=)
c.2052C>A (p.Ser684=)
c.1713C>A (p.Ser571=)
c.2061C>A (p.Ser687=)
c.2169C>A (p.Ser723=)
c.2133C>A (p.Ser711=)
c.2091C>A (p.Ser697=)
c.1680-6275C>A (n.1680-6275C>A)
c.2187C>A (p.Ser729=)
c.2253C>A (p.Ser751=)
c.2250C>A (p.Ser750=)
c.2223C>A (p.Ser741=)
c.2142C>A (p.Ser714=)
c.2127C>A (p.Ser709=)
c.1734C>A (p.Ser578=)
c.2196C>A (p.Ser732=)
c.2130C>A (p.Ser710=)
c.2088C>A (p.Ser696=)
c.1161C>A (p.Ser387=)
 gnomAD v4
20g.63407119G>ACA409638848KCNQ2c.2198C>T (p.Ser733Phe)
c.2144C>T (p.Ser715Phe)
c.1541C>T (p.Ser514Phe)
c.2051C>T (p.Ser684Phe)
c.1712C>T (p.Ser571Phe)
c.2060C>T (p.Ser687Phe)
c.2168C>T (p.Ser723Phe)
c.2132C>T (p.Ser711Phe)
c.2090C>T (p.Ser697Phe)
c.1680-6276C>T (n.1680-6276C>T)
c.2186C>T (p.Ser729Phe)
c.2252C>T (p.Ser751Phe)
c.2249C>T (p.Ser750Phe)
c.2222C>T (p.Ser741Phe)
c.2141C>T (p.Ser714Phe)
c.2126C>T (p.Ser709Phe)
c.1733C>T (p.Ser578Phe)
c.2195C>T (p.Ser732Phe)
c.2129C>T (p.Ser710Phe)
c.2087C>T (p.Ser696Phe)
c.1160C>T (p.Ser387Phe)
20g.63407119G>CCA409638850KCNQ2c.2198C>G (p.Ser733Cys)
c.2144C>G (p.Ser715Cys)
c.1541C>G (p.Ser514Cys)
c.2051C>G (p.Ser684Cys)
c.1712C>G (p.Ser571Cys)
c.2060C>G (p.Ser687Cys)
c.2168C>G (p.Ser723Cys)
c.2132C>G (p.Ser711Cys)
c.2090C>G (p.Ser697Cys)
c.1680-6276C>G (n.1680-6276C>G)
c.2186C>G (p.Ser729Cys)
c.2252C>G (p.Ser751Cys)
c.2249C>G (p.Ser750Cys)
c.2222C>G (p.Ser741Cys)
c.2141C>G (p.Ser714Cys)
c.2126C>G (p.Ser709Cys)
c.1733C>G (p.Ser578Cys)
c.2195C>G (p.Ser732Cys)
c.2129C>G (p.Ser710Cys)
c.2087C>G (p.Ser696Cys)
c.1160C>G (p.Ser387Cys)
 gnomAD v4
20g.63407119G>TCA409638852KCNQ2c.2198C>A (p.Ser733Tyr)
c.2144C>A (p.Ser715Tyr)
c.1541C>A (p.Ser514Tyr)
c.2051C>A (p.Ser684Tyr)
c.1712C>A (p.Ser571Tyr)
c.2060C>A (p.Ser687Tyr)
c.2168C>A (p.Ser723Tyr)
c.2132C>A (p.Ser711Tyr)
c.2090C>A (p.Ser697Tyr)
c.1680-6276C>A (n.1680-6276C>A)
c.2186C>A (p.Ser729Tyr)
c.2252C>A (p.Ser751Tyr)
c.2249C>A (p.Ser750Tyr)
c.2222C>A (p.Ser741Tyr)
c.2141C>A (p.Ser714Tyr)
c.2126C>A (p.Ser709Tyr)
c.1733C>A (p.Ser578Tyr)
c.2195C>A (p.Ser732Tyr)
c.2129C>A (p.Ser710Tyr)
c.2087C>A (p.Ser696Tyr)
c.1160C>A (p.Ser387Tyr)
 gnomAD v4
20g.63407120A>CCA409638854KCNQ2c.2197T>G (p.Ser733Ala)
c.2143T>G (p.Ser715Ala)
c.1540T>G (p.Ser514Ala)
c.2050T>G (p.Ser684Ala)
c.1711T>G (p.Ser571Ala)
c.2059T>G (p.Ser687Ala)
c.2167T>G (p.Ser723Ala)
c.2131T>G (p.Ser711Ala)
c.2089T>G (p.Ser697Ala)
c.1680-6277T>G (n.1680-6277T>G)
c.2185T>G (p.Ser729Ala)
c.2251T>G (p.Ser751Ala)
c.2248T>G (p.Ser750Ala)
c.2221T>G (p.Ser741Ala)
c.2140T>G (p.Ser714Ala)
c.2125T>G (p.Ser709Ala)
c.1732T>G (p.Ser578Ala)
c.2194T>G (p.Ser732Ala)
c.2128T>G (p.Ser710Ala)
c.2086T>G (p.Ser696Ala)
c.1159T>G (p.Ser387Ala)
20g.63407120A>GCA409638856KCNQ2c.2197T>C (p.Ser733Pro)
c.2143T>C (p.Ser715Pro)
c.1540T>C (p.Ser514Pro)
c.2050T>C (p.Ser684Pro)
c.1711T>C (p.Ser571Pro)
c.2059T>C (p.Ser687Pro)
c.2167T>C (p.Ser723Pro)
c.2131T>C (p.Ser711Pro)
c.2089T>C (p.Ser697Pro)
c.1680-6277T>C (n.1680-6277T>C)
c.2185T>C (p.Ser729Pro)
c.2251T>C (p.Ser751Pro)
c.2248T>C (p.Ser750Pro)
c.2221T>C (p.Ser741Pro)
c.2140T>C (p.Ser714Pro)
c.2125T>C (p.Ser709Pro)
c.1732T>C (p.Ser578Pro)
c.2194T>C (p.Ser732Pro)
c.2128T>C (p.Ser710Pro)
c.2086T>C (p.Ser696Pro)
c.1159T>C (p.Ser387Pro)
 gnomAD v4
20g.63407120A>TCA409638858KCNQ2c.2197T>A (p.Ser733Thr)
c.2143T>A (p.Ser715Thr)
c.1540T>A (p.Ser514Thr)
c.2050T>A (p.Ser684Thr)
c.1711T>A (p.Ser571Thr)
c.2059T>A (p.Ser687Thr)
c.2167T>A (p.Ser723Thr)
c.2131T>A (p.Ser711Thr)
c.2089T>A (p.Ser697Thr)
c.1680-6277T>A (n.1680-6277T>A)
c.2185T>A (p.Ser729Thr)
c.2251T>A (p.Ser751Thr)
c.2248T>A (p.Ser750Thr)
c.2221T>A (p.Ser741Thr)
c.2140T>A (p.Ser714Thr)
c.2125T>A (p.Ser709Thr)
c.1732T>A (p.Ser578Thr)
c.2194T>A (p.Ser732Thr)
c.2128T>A (p.Ser710Thr)
c.2086T>A (p.Ser696Thr)
c.1159T>A (p.Ser387Thr)
20g.63407121G>ACA511339524KCNQ2c.2196C>T (p.Pro732=)
c.2142C>T (p.Pro714=)
c.1539C>T (p.Pro513=)
c.2049C>T (p.Pro683=)
c.1710C>T (p.Pro570=)
c.2058C>T (p.Pro686=)
c.2166C>T (p.Pro722=)
c.2130C>T (p.Pro710=)
c.2088C>T (p.Pro696=)
c.1680-6278C>T (n.1680-6278C>T)
c.2184C>T (p.Pro728=)
c.2250C>T (p.Pro750=)
c.2247C>T (p.Pro749=)
c.2220C>T (p.Pro740=)
c.2139C>T (p.Pro713=)
c.2124C>T (p.Pro708=)
c.1731C>T (p.Pro577=)
c.2193C>T (p.Pro731=)
c.2127C>T (p.Pro709=)
c.2085C>T (p.Pro695=)
c.1158C>T (p.Pro386=)
 dbSNP gnomAD v2 gnomAD v4
20g.63407121G>CCA511339525KCNQ2c.2196C>G (p.Pro732=)
c.2142C>G (p.Pro714=)
c.1539C>G (p.Pro513=)
c.2049C>G (p.Pro683=)
c.1710C>G (p.Pro570=)
c.2058C>G (p.Pro686=)
c.2166C>G (p.Pro722=)
c.2130C>G (p.Pro710=)
c.2088C>G (p.Pro696=)
c.1680-6278C>G (n.1680-6278C>G)
c.2184C>G (p.Pro728=)
c.2250C>G (p.Pro750=)
c.2247C>G (p.Pro749=)
c.2220C>G (p.Pro740=)
c.2139C>G (p.Pro713=)
c.2124C>G (p.Pro708=)
c.1731C>G (p.Pro577=)
c.2193C>G (p.Pro731=)
c.2127C>G (p.Pro709=)
c.2085C>G (p.Pro695=)
c.1158C>G (p.Pro386=)
20g.63407121G=CA2374774425KCNQ2c.2196C= (p.Pro732=)
c.2142C= (p.Pro714=)
c.1539C= (p.Pro513=)
c.2049C= (p.Pro683=)
c.1710C= (p.Pro570=)
c.2058C= (p.Pro686=)
c.2166C= (p.Pro722=)
c.2130C= (p.Pro710=)
c.2088C= (p.Pro696=)
c.1680-6278C= (n.1680-6278C=)
c.2184C= (p.Pro728=)
c.2250C= (p.Pro750=)
c.2247C= (p.Pro749=)
c.2220C= (p.Pro740=)
c.2139C= (p.Pro713=)
c.2124C= (p.Pro708=)
c.1731C= (p.Pro577=)
c.2193C= (p.Pro731=)
c.2127C= (p.Pro709=)
c.2085C= (p.Pro695=)
c.1158C= (p.Pro386=)
20g.63407121G>TCA511339526KCNQ2c.2196C>A (p.Pro732=)
c.2142C>A (p.Pro714=)
c.1539C>A (p.Pro513=)
c.2049C>A (p.Pro683=)
c.1710C>A (p.Pro570=)
c.2058C>A (p.Pro686=)
c.2166C>A (p.Pro722=)
c.2130C>A (p.Pro710=)
c.2088C>A (p.Pro696=)
c.1680-6278C>A (n.1680-6278C>A)
c.2184C>A (p.Pro728=)
c.2250C>A (p.Pro750=)
c.2247C>A (p.Pro749=)
c.2220C>A (p.Pro740=)
c.2139C>A (p.Pro713=)
c.2124C>A (p.Pro708=)
c.1731C>A (p.Pro577=)
c.2193C>A (p.Pro731=)
c.2127C>A (p.Pro709=)
c.2085C>A (p.Pro695=)
c.1158C>A (p.Pro386=)
 dbSNP gnomAD v3 gnomAD v4
20g.63407122G>ACA409638860KCNQ2c.2195C>T (p.Pro732Leu)
c.2141C>T (p.Pro714Leu)
c.1538C>T (p.Pro513Leu)
c.2048C>T (p.Pro683Leu)
c.1709C>T (p.Pro570Leu)
c.2057C>T (p.Pro686Leu)
c.2165C>T (p.Pro722Leu)
c.2129C>T (p.Pro710Leu)
c.2087C>T (p.Pro696Leu)
c.1680-6279C>T (n.1680-6279C>T)
c.2183C>T (p.Pro728Leu)
c.2249C>T (p.Pro750Leu)
c.2246C>T (p.Pro749Leu)
c.2219C>T (p.Pro740Leu)
c.2138C>T (p.Pro713Leu)
c.2123C>T (p.Pro708Leu)
c.1730C>T (p.Pro577Leu)
c.2192C>T (p.Pro731Leu)
c.2126C>T (p.Pro709Leu)
c.2084C>T (p.Pro695Leu)
c.1157C>T (p.Pro386Leu)
20g.63407122G>CCA409638862KCNQ2c.2195C>G (p.Pro732Arg)
c.2141C>G (p.Pro714Arg)
c.1538C>G (p.Pro513Arg)
c.2048C>G (p.Pro683Arg)
c.1709C>G (p.Pro570Arg)
c.2057C>G (p.Pro686Arg)
c.2165C>G (p.Pro722Arg)
c.2129C>G (p.Pro710Arg)
c.2087C>G (p.Pro696Arg)
c.1680-6279C>G (n.1680-6279C>G)
c.2183C>G (p.Pro728Arg)
c.2249C>G (p.Pro750Arg)
c.2246C>G (p.Pro749Arg)
c.2219C>G (p.Pro740Arg)
c.2138C>G (p.Pro713Arg)
c.2123C>G (p.Pro708Arg)
c.1730C>G (p.Pro577Arg)
c.2192C>G (p.Pro731Arg)
c.2126C>G (p.Pro709Arg)
c.2084C>G (p.Pro695Arg)
c.1157C>G (p.Pro386Arg)
20g.63407122G=CA2374774426KCNQ2c.2195C= (p.Pro732=)
c.2141C= (p.Pro714=)
c.1538C= (p.Pro513=)
c.2048C= (p.Pro683=)
c.1709C= (p.Pro570=)
c.2057C= (p.Pro686=)
c.2165C= (p.Pro722=)
c.2129C= (p.Pro710=)
c.2087C= (p.Pro696=)
c.1680-6279C= (n.1680-6279C=)
c.2183C= (p.Pro728=)
c.2249C= (p.Pro750=)
c.2246C= (p.Pro749=)
c.2219C= (p.Pro740=)
c.2138C= (p.Pro713=)
c.2123C= (p.Pro708=)
c.1730C= (p.Pro577=)
c.2192C= (p.Pro731=)
c.2126C= (p.Pro709=)
c.2084C= (p.Pro695=)
c.1157C= (p.Pro386=)
20g.63407122G>TCA409638864KCNQ2c.2195C>A (p.Pro732His)
c.2141C>A (p.Pro714His)
c.1538C>A (p.Pro513His)
c.2048C>A (p.Pro683His)
c.1709C>A (p.Pro570His)
c.2057C>A (p.Pro686His)
c.2165C>A (p.Pro722His)
c.2129C>A (p.Pro710His)
c.2087C>A (p.Pro696His)
c.1680-6279C>A (n.1680-6279C>A)
c.2183C>A (p.Pro728His)
c.2249C>A (p.Pro750His)
c.2246C>A (p.Pro749His)
c.2219C>A (p.Pro740His)
c.2138C>A (p.Pro713His)
c.2123C>A (p.Pro708His)
c.1730C>A (p.Pro577His)
c.2192C>A (p.Pro731His)
c.2126C>A (p.Pro709His)
c.2084C>A (p.Pro695His)
c.1157C>A (p.Pro386His)
 dbSNP gnomAD v3 gnomAD v4
20g.63407123G>ACA409638866KCNQ2c.2194C>T (p.Pro732Ser)
c.2140C>T (p.Pro714Ser)
c.1537C>T (p.Pro513Ser)
c.2047C>T (p.Pro683Ser)
c.1708C>T (p.Pro570Ser)
c.2056C>T (p.Pro686Ser)
c.2164C>T (p.Pro722Ser)
c.2128C>T (p.Pro710Ser)
c.2086C>T (p.Pro696Ser)
c.1680-6280C>T (n.1680-6280C>T)
c.2182C>T (p.Pro728Ser)
c.2248C>T (p.Pro750Ser)
c.2245C>T (p.Pro749Ser)
c.2218C>T (p.Pro740Ser)
c.2137C>T (p.Pro713Ser)
c.2122C>T (p.Pro708Ser)
c.1729C>T (p.Pro577Ser)
c.2191C>T (p.Pro731Ser)
c.2125C>T (p.Pro709Ser)
c.2083C>T (p.Pro695Ser)
c.1156C>T (p.Pro386Ser)
20g.63407123G>CCA409638867KCNQ2c.2194C>G (p.Pro732Ala)
c.2140C>G (p.Pro714Ala)
c.1537C>G (p.Pro513Ala)
c.2047C>G (p.Pro683Ala)
c.1708C>G (p.Pro570Ala)
c.2056C>G (p.Pro686Ala)
c.2164C>G (p.Pro722Ala)
c.2128C>G (p.Pro710Ala)
c.2086C>G (p.Pro696Ala)
c.1680-6280C>G (n.1680-6280C>G)
c.2182C>G (p.Pro728Ala)
c.2248C>G (p.Pro750Ala)
c.2245C>G (p.Pro749Ala)
c.2218C>G (p.Pro740Ala)
c.2137C>G (p.Pro713Ala)
c.2122C>G (p.Pro708Ala)
c.1729C>G (p.Pro577Ala)
c.2191C>G (p.Pro731Ala)
c.2125C>G (p.Pro709Ala)
c.2083C>G (p.Pro695Ala)
c.1156C>G (p.Pro386Ala)
20g.63407123G>TCA409638868KCNQ2c.2194C>A (p.Pro732Thr)
c.2140C>A (p.Pro714Thr)
c.1537C>A (p.Pro513Thr)
c.2047C>A (p.Pro683Thr)
c.1708C>A (p.Pro570Thr)
c.2056C>A (p.Pro686Thr)
c.2164C>A (p.Pro722Thr)
c.2128C>A (p.Pro710Thr)
c.2086C>A (p.Pro696Thr)
c.1680-6280C>A (n.1680-6280C>A)
c.2182C>A (p.Pro728Thr)
c.2248C>A (p.Pro750Thr)
c.2245C>A (p.Pro749Thr)
c.2218C>A (p.Pro740Thr)
c.2137C>A (p.Pro713Thr)
c.2122C>A (p.Pro708Thr)
c.1729C>A (p.Pro577Thr)
c.2191C>A (p.Pro731Thr)
c.2125C>A (p.Pro709Thr)
c.2083C>A (p.Pro695Thr)
c.1156C>A (p.Pro386Thr)
 gnomAD v4
20g.63407124C>ACA511339527KCNQ2c.2193G>T (p.Pro731=)
c.2139G>T (p.Pro713=)
c.1536G>T (p.Pro512=)
c.2046G>T (p.Pro682=)
c.1707G>T (p.Pro569=)
c.2055G>T (p.Pro685=)
c.2163G>T (p.Pro721=)
c.2127G>T (p.Pro709=)
c.2085G>T (p.Pro695=)
c.1680-6281G>T (n.1680-6281G>T)
c.2181G>T (p.Pro727=)
c.2247G>T (p.Pro749=)
c.2244G>T (p.Pro748=)
c.2217G>T (p.Pro739=)
c.2136G>T (p.Pro712=)
c.2121G>T (p.Pro707=)
c.1728G>T (p.Pro576=)
c.2190G>T (p.Pro730=)
c.2124G>T (p.Pro708=)
c.2082G>T (p.Pro694=)
c.1155G>T (p.Pro385=)
 gnomAD v4
20g.63407124C=CA2374774427KCNQ2c.2193G= (p.Pro731=)
c.2139G= (p.Pro713=)
c.1536G= (p.Pro512=)
c.2046G= (p.Pro682=)
c.1707G= (p.Pro569=)
c.2055G= (p.Pro685=)
c.2163G= (p.Pro721=)
c.2127G= (p.Pro709=)
c.2085G= (p.Pro695=)
c.1680-6281G= (n.1680-6281G=)
c.2181G= (p.Pro727=)
c.2247G= (p.Pro749=)
c.2244G= (p.Pro748=)
c.2217G= (p.Pro739=)
c.2136G= (p.Pro712=)
c.2121G= (p.Pro707=)
c.1728G= (p.Pro576=)
c.2190G= (p.Pro730=)
c.2124G= (p.Pro708=)
c.2082G= (p.Pro694=)
c.1155G= (p.Pro385=)
20g.63407124C>GCA511339528KCNQ2c.2193G>C (p.Pro731=)
c.2139G>C (p.Pro713=)
c.1536G>C (p.Pro512=)
c.2046G>C (p.Pro682=)
c.1707G>C (p.Pro569=)
c.2055G>C (p.Pro685=)
c.2163G>C (p.Pro721=)
c.2127G>C (p.Pro709=)
c.2085G>C (p.Pro695=)
c.1680-6281G>C (n.1680-6281G>C)
c.2181G>C (p.Pro727=)
c.2247G>C (p.Pro749=)
c.2244G>C (p.Pro748=)
c.2217G>C (p.Pro739=)
c.2136G>C (p.Pro712=)
c.2121G>C (p.Pro707=)
c.1728G>C (p.Pro576=)
c.2190G>C (p.Pro730=)
c.2124G>C (p.Pro708=)
c.2082G>C (p.Pro694=)
c.1155G>C (p.Pro385=)
20g.63407124C>TCA9958139KCNQ2c.2193G>A (p.Pro731=)
c.2139G>A (p.Pro713=)
c.1536G>A (p.Pro512=)
c.2046G>A (p.Pro682=)
c.1707G>A (p.Pro569=)
c.2055G>A (p.Pro685=)
c.2163G>A (p.Pro721=)
c.2127G>A (p.Pro709=)
c.2085G>A (p.Pro695=)
c.1680-6281G>A (n.1680-6281G>A)
c.2181G>A (p.Pro727=)
c.2247G>A (p.Pro749=)
c.2244G>A (p.Pro748=)
c.2217G>A (p.Pro739=)
c.2136G>A (p.Pro712=)
c.2121G>A (p.Pro707=)
c.1728G>A (p.Pro576=)
c.2190G>A (p.Pro730=)
c.2124G>A (p.Pro708=)
c.2082G>A (p.Pro694=)
c.1155G>A (p.Pro385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407125G>ACA9958140KCNQ2c.2192C>T (p.Pro731Leu)
c.2138C>T (p.Pro713Leu)
c.1535C>T (p.Pro512Leu)
c.2045C>T (p.Pro682Leu)
c.1706C>T (p.Pro569Leu)
c.2054C>T (p.Pro685Leu)
c.2162C>T (p.Pro721Leu)
c.2126C>T (p.Pro709Leu)
c.2084C>T (p.Pro695Leu)
c.1680-6282C>T (n.1680-6282C>T)
c.2180C>T (p.Pro727Leu)
c.2246C>T (p.Pro749Leu)
c.2243C>T (p.Pro748Leu)
c.2216C>T (p.Pro739Leu)
c.2135C>T (p.Pro712Leu)
c.2120C>T (p.Pro707Leu)
c.1727C>T (p.Pro576Leu)
c.2189C>T (p.Pro730Leu)
c.2123C>T (p.Pro708Leu)
c.2081C>T (p.Pro694Leu)
c.1154C>T (p.Pro385Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407125G>CCA409638873KCNQ2c.2192C>G (p.Pro731Arg)
c.2138C>G (p.Pro713Arg)
c.1535C>G (p.Pro512Arg)
c.2045C>G (p.Pro682Arg)
c.1706C>G (p.Pro569Arg)
c.2054C>G (p.Pro685Arg)
c.2162C>G (p.Pro721Arg)
c.2126C>G (p.Pro709Arg)
c.2084C>G (p.Pro695Arg)
c.1680-6282C>G (n.1680-6282C>G)
c.2180C>G (p.Pro727Arg)
c.2246C>G (p.Pro749Arg)
c.2243C>G (p.Pro748Arg)
c.2216C>G (p.Pro739Arg)
c.2135C>G (p.Pro712Arg)
c.2120C>G (p.Pro707Arg)
c.1727C>G (p.Pro576Arg)
c.2189C>G (p.Pro730Arg)
c.2123C>G (p.Pro708Arg)
c.2081C>G (p.Pro694Arg)
c.1154C>G (p.Pro385Arg)
20g.63407125G=CA2374774428KCNQ2c.2192C= (p.Pro731=)
c.2138C= (p.Pro713=)
c.1535C= (p.Pro512=)
c.2045C= (p.Pro682=)
c.1706C= (p.Pro569=)
c.2054C= (p.Pro685=)
c.2162C= (p.Pro721=)
c.2126C= (p.Pro709=)
c.2084C= (p.Pro695=)
c.1680-6282C= (n.1680-6282C=)
c.2180C= (p.Pro727=)
c.2246C= (p.Pro749=)
c.2243C= (p.Pro748=)
c.2216C= (p.Pro739=)
c.2135C= (p.Pro712=)
c.2120C= (p.Pro707=)
c.1727C= (p.Pro576=)
c.2189C= (p.Pro730=)
c.2123C= (p.Pro708=)
c.2081C= (p.Pro694=)
c.1154C= (p.Pro385=)
20g.63407125G>TCA409638871KCNQ2c.2192C>A (p.Pro731Gln)
c.2138C>A (p.Pro713Gln)
c.1535C>A (p.Pro512Gln)
c.2045C>A (p.Pro682Gln)
c.1706C>A (p.Pro569Gln)
c.2054C>A (p.Pro685Gln)
c.2162C>A (p.Pro721Gln)
c.2126C>A (p.Pro709Gln)
c.2084C>A (p.Pro695Gln)
c.1680-6282C>A (n.1680-6282C>A)
c.2180C>A (p.Pro727Gln)
c.2246C>A (p.Pro749Gln)
c.2243C>A (p.Pro748Gln)
c.2216C>A (p.Pro739Gln)
c.2135C>A (p.Pro712Gln)
c.2120C>A (p.Pro707Gln)
c.1727C>A (p.Pro576Gln)
c.2189C>A (p.Pro730Gln)
c.2123C>A (p.Pro708Gln)
c.2081C>A (p.Pro694Gln)
c.1154C>A (p.Pro385Gln)
 gnomAD v4
20g.63407126G>ACA409638874KCNQ2c.2191C>T (p.Pro731Ser)
c.2137C>T (p.Pro713Ser)
c.1534C>T (p.Pro512Ser)
c.2044C>T (p.Pro682Ser)
c.1705C>T (p.Pro569Ser)
c.2053C>T (p.Pro685Ser)
c.2161C>T (p.Pro721Ser)
c.2125C>T (p.Pro709Ser)
c.2083C>T (p.Pro695Ser)
c.1680-6283C>T (n.1680-6283C>T)
c.2179C>T (p.Pro727Ser)
c.2245C>T (p.Pro749Ser)
c.2242C>T (p.Pro748Ser)
c.2215C>T (p.Pro739Ser)
c.2134C>T (p.Pro712Ser)
c.2119C>T (p.Pro707Ser)
c.1726C>T (p.Pro576Ser)
c.2188C>T (p.Pro730Ser)
c.2122C>T (p.Pro708Ser)
c.2080C>T (p.Pro694Ser)
c.1153C>T (p.Pro385Ser)
 gnomAD v4
20g.63407126G>CCA409638876KCNQ2c.2191C>G (p.Pro731Ala)
c.2137C>G (p.Pro713Ala)
c.1534C>G (p.Pro512Ala)
c.2044C>G (p.Pro682Ala)
c.1705C>G (p.Pro569Ala)
c.2053C>G (p.Pro685Ala)
c.2161C>G (p.Pro721Ala)
c.2125C>G (p.Pro709Ala)
c.2083C>G (p.Pro695Ala)
c.1680-6283C>G (n.1680-6283C>G)
c.2179C>G (p.Pro727Ala)
c.2245C>G (p.Pro749Ala)
c.2242C>G (p.Pro748Ala)
c.2215C>G (p.Pro739Ala)
c.2134C>G (p.Pro712Ala)
c.2119C>G (p.Pro707Ala)
c.1726C>G (p.Pro576Ala)
c.2188C>G (p.Pro730Ala)
c.2122C>G (p.Pro708Ala)
c.2080C>G (p.Pro694Ala)
c.1153C>G (p.Pro385Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407126G=CA2374774429KCNQ2c.2191C= (p.Pro731=)
c.2137C= (p.Pro713=)
c.1534C= (p.Pro512=)
c.2044C= (p.Pro682=)
c.1705C= (p.Pro569=)
c.2053C= (p.Pro685=)
c.2161C= (p.Pro721=)
c.2125C= (p.Pro709=)
c.2083C= (p.Pro695=)
c.1680-6283C= (n.1680-6283C=)
c.2179C= (p.Pro727=)
c.2245C= (p.Pro749=)
c.2242C= (p.Pro748=)
c.2215C= (p.Pro739=)
c.2134C= (p.Pro712=)
c.2119C= (p.Pro707=)
c.1726C= (p.Pro576=)
c.2188C= (p.Pro730=)
c.2122C= (p.Pro708=)
c.2080C= (p.Pro694=)
c.1153C= (p.Pro385=)
20g.63407126G>TCA409638877KCNQ2c.2191C>A (p.Pro731Thr)
c.2137C>A (p.Pro713Thr)
c.1534C>A (p.Pro512Thr)
c.2044C>A (p.Pro682Thr)
c.1705C>A (p.Pro569Thr)
c.2053C>A (p.Pro685Thr)
c.2161C>A (p.Pro721Thr)
c.2125C>A (p.Pro709Thr)
c.2083C>A (p.Pro695Thr)
c.1680-6283C>A (n.1680-6283C>A)
c.2179C>A (p.Pro727Thr)
c.2245C>A (p.Pro749Thr)
c.2242C>A (p.Pro748Thr)
c.2215C>A (p.Pro739Thr)
c.2134C>A (p.Pro712Thr)
c.2119C>A (p.Pro707Thr)
c.1726C>A (p.Pro576Thr)
c.2188C>A (p.Pro730Thr)
c.2122C>A (p.Pro708Thr)
c.2080C>A (p.Pro694Thr)
c.1153C>A (p.Pro385Thr)
 gnomAD v4
20g.63407127A=CA2374774430KCNQ2c.2190T= (p.Cys730=)
c.2136T= (p.Cys712=)
c.1533T= (p.Cys511=)
c.2043T= (p.Cys681=)
c.1704T= (p.Cys568=)
c.2052T= (p.Cys684=)
c.2160T= (p.Cys720=)
c.2124T= (p.Cys708=)
c.2082T= (p.Cys694=)
c.1680-6284T= (n.1680-6284T=)
c.2178T= (p.Cys726=)
c.2244T= (p.Cys748=)
c.2241T= (p.Cys747=)
c.2214T= (p.Cys738=)
c.2133T= (p.Cys711=)
c.2118T= (p.Cys706=)
c.1725T= (p.Cys575=)
c.2187T= (p.Cys729=)
c.2121T= (p.Cys707=)
c.2079T= (p.Cys693=)
c.1152T= (p.Cys384=)
20g.63407127A>CCA409638879KCNQ2c.2190T>G (p.Cys730Trp)
c.2136T>G (p.Cys712Trp)
c.1533T>G (p.Cys511Trp)
c.2043T>G (p.Cys681Trp)
c.1704T>G (p.Cys568Trp)
c.2052T>G (p.Cys684Trp)
c.2160T>G (p.Cys720Trp)
c.2124T>G (p.Cys708Trp)
c.2082T>G (p.Cys694Trp)
c.1680-6284T>G (n.1680-6284T>G)
c.2178T>G (p.Cys726Trp)
c.2244T>G (p.Cys748Trp)
c.2241T>G (p.Cys747Trp)
c.2214T>G (p.Cys738Trp)
c.2133T>G (p.Cys711Trp)
c.2118T>G (p.Cys706Trp)
c.1725T>G (p.Cys575Trp)
c.2187T>G (p.Cys729Trp)
c.2121T>G (p.Cys707Trp)
c.2079T>G (p.Cys693Trp)
c.1152T>G (p.Cys384Trp)
20g.63407127A>GCA511339529KCNQ2c.2190T>C (p.Cys730=)
c.2136T>C (p.Cys712=)
c.1533T>C (p.Cys511=)
c.2043T>C (p.Cys681=)
c.1704T>C (p.Cys568=)
c.2052T>C (p.Cys684=)
c.2160T>C (p.Cys720=)
c.2124T>C (p.Cys708=)
c.2082T>C (p.Cys694=)
c.1680-6284T>C (n.1680-6284T>C)
c.2178T>C (p.Cys726=)
c.2244T>C (p.Cys748=)
c.2241T>C (p.Cys747=)
c.2214T>C (p.Cys738=)
c.2133T>C (p.Cys711=)
c.2118T>C (p.Cys706=)
c.1725T>C (p.Cys575=)
c.2187T>C (p.Cys729=)
c.2121T>C (p.Cys707=)
c.2079T>C (p.Cys693=)
c.1152T>C (p.Cys384=)
 dbSNP
20g.63407127A>TCA409638881KCNQ2c.2190T>A (p.Cys730Ter)
c.2136T>A (p.Cys712Ter)
c.1533T>A (p.Cys511Ter)
c.2043T>A (p.Cys681Ter)
c.1704T>A (p.Cys568Ter)
c.2052T>A (p.Cys684Ter)
c.2160T>A (p.Cys720Ter)
c.2124T>A (p.Cys708Ter)
c.2082T>A (p.Cys694Ter)
c.1680-6284T>A (n.1680-6284T>A)
c.2178T>A (p.Cys726Ter)
c.2244T>A (p.Cys748Ter)
c.2241T>A (p.Cys747Ter)
c.2214T>A (p.Cys738Ter)
c.2133T>A (p.Cys711Ter)
c.2118T>A (p.Cys706Ter)
c.1725T>A (p.Cys575Ter)
c.2187T>A (p.Cys729Ter)
c.2121T>A (p.Cys707Ter)
c.2079T>A (p.Cys693Ter)
c.1152T>A (p.Cys384Ter)
20g.63407128C>ACA409638884KCNQ2c.2189G>T (p.Cys730Phe)
c.2135G>T (p.Cys712Phe)
c.1532G>T (p.Cys511Phe)
c.2042G>T (p.Cys681Phe)
c.1703G>T (p.Cys568Phe)
c.2051G>T (p.Cys684Phe)
c.2159G>T (p.Cys720Phe)
c.2123G>T (p.Cys708Phe)
c.2081G>T (p.Cys694Phe)
c.1680-6285G>T (n.1680-6285G>T)
c.2177G>T (p.Cys726Phe)
c.2243G>T (p.Cys748Phe)
c.2240G>T (p.Cys747Phe)
c.2213G>T (p.Cys738Phe)
c.2132G>T (p.Cys711Phe)
c.2117G>T (p.Cys706Phe)
c.1724G>T (p.Cys575Phe)
c.2186G>T (p.Cys729Phe)
c.2120G>T (p.Cys707Phe)
c.2078G>T (p.Cys693Phe)
c.1151G>T (p.Cys384Phe)
 gnomAD v4
20g.63407128C>GCA409638885KCNQ2c.2189G>C (p.Cys730Ser)
c.2135G>C (p.Cys712Ser)
c.1532G>C (p.Cys511Ser)
c.2042G>C (p.Cys681Ser)
c.1703G>C (p.Cys568Ser)
c.2051G>C (p.Cys684Ser)
c.2159G>C (p.Cys720Ser)
c.2123G>C (p.Cys708Ser)
c.2081G>C (p.Cys694Ser)
c.1680-6285G>C (n.1680-6285G>C)
c.2177G>C (p.Cys726Ser)
c.2243G>C (p.Cys748Ser)
c.2240G>C (p.Cys747Ser)
c.2213G>C (p.Cys738Ser)
c.2132G>C (p.Cys711Ser)
c.2117G>C (p.Cys706Ser)
c.1724G>C (p.Cys575Ser)
c.2186G>C (p.Cys729Ser)
c.2120G>C (p.Cys707Ser)
c.2078G>C (p.Cys693Ser)
c.1151G>C (p.Cys384Ser)
20g.63407128C>TCA409638887KCNQ2c.2189G>A (p.Cys730Tyr)
c.2135G>A (p.Cys712Tyr)
c.1532G>A (p.Cys511Tyr)
c.2042G>A (p.Cys681Tyr)
c.1703G>A (p.Cys568Tyr)
c.2051G>A (p.Cys684Tyr)
c.2159G>A (p.Cys720Tyr)
c.2123G>A (p.Cys708Tyr)
c.2081G>A (p.Cys694Tyr)
c.1680-6285G>A (n.1680-6285G>A)
c.2177G>A (p.Cys726Tyr)
c.2243G>A (p.Cys748Tyr)
c.2240G>A (p.Cys747Tyr)
c.2213G>A (p.Cys738Tyr)
c.2132G>A (p.Cys711Tyr)
c.2117G>A (p.Cys706Tyr)
c.1724G>A (p.Cys575Tyr)
c.2186G>A (p.Cys729Tyr)
c.2120G>A (p.Cys707Tyr)
c.2078G>A (p.Cys693Tyr)
c.1151G>A (p.Cys384Tyr)
 gnomAD v4
20g.63407129A>CCA409638889KCNQ2c.2188T>G (p.Cys730Gly)
c.2134T>G (p.Cys712Gly)
c.1531T>G (p.Cys511Gly)
c.2041T>G (p.Cys681Gly)
c.1702T>G (p.Cys568Gly)
c.2050T>G (p.Cys684Gly)
c.2158T>G (p.Cys720Gly)
c.2122T>G (p.Cys708Gly)
c.2080T>G (p.Cys694Gly)
c.1680-6286T>G (n.1680-6286T>G)
c.2176T>G (p.Cys726Gly)
c.2242T>G (p.Cys748Gly)
c.2239T>G (p.Cys747Gly)
c.2212T>G (p.Cys738Gly)
c.2131T>G (p.Cys711Gly)
c.2116T>G (p.Cys706Gly)
c.1723T>G (p.Cys575Gly)
c.2185T>G (p.Cys729Gly)
c.2119T>G (p.Cys707Gly)
c.2077T>G (p.Cys693Gly)
c.1150T>G (p.Cys384Gly)
20g.63407129A>GCA409638891KCNQ2c.2188T>C (p.Cys730Arg)
c.2134T>C (p.Cys712Arg)
c.1531T>C (p.Cys511Arg)
c.2041T>C (p.Cys681Arg)
c.1702T>C (p.Cys568Arg)
c.2050T>C (p.Cys684Arg)
c.2158T>C (p.Cys720Arg)
c.2122T>C (p.Cys708Arg)
c.2080T>C (p.Cys694Arg)
c.1680-6286T>C (n.1680-6286T>C)
c.2176T>C (p.Cys726Arg)
c.2242T>C (p.Cys748Arg)
c.2239T>C (p.Cys747Arg)
c.2212T>C (p.Cys738Arg)
c.2131T>C (p.Cys711Arg)
c.2116T>C (p.Cys706Arg)
c.1723T>C (p.Cys575Arg)
c.2185T>C (p.Cys729Arg)
c.2119T>C (p.Cys707Arg)
c.2077T>C (p.Cys693Arg)
c.1150T>C (p.Cys384Arg)
20g.63407129A>TCA409638893KCNQ2c.2188T>A (p.Cys730Ser)
c.2134T>A (p.Cys712Ser)
c.1531T>A (p.Cys511Ser)
c.2041T>A (p.Cys681Ser)
c.1702T>A (p.Cys568Ser)
c.2050T>A (p.Cys684Ser)
c.2158T>A (p.Cys720Ser)
c.2122T>A (p.Cys708Ser)
c.2080T>A (p.Cys694Ser)
c.1680-6286T>A (n.1680-6286T>A)
c.2176T>A (p.Cys726Ser)
c.2242T>A (p.Cys748Ser)
c.2239T>A (p.Cys747Ser)
c.2212T>A (p.Cys738Ser)
c.2131T>A (p.Cys711Ser)
c.2116T>A (p.Cys706Ser)
c.1723T>A (p.Cys575Ser)
c.2185T>A (p.Cys729Ser)
c.2119T>A (p.Cys707Ser)
c.2077T>A (p.Cys693Ser)
c.1150T>A (p.Cys384Ser)
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

Number of alleles fetched