Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63406889_63407267del | CA2739277253 | KCNQ2 | c.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 |
20 | g.63407100_63407107del | CA2837995039 | KCNQ2 | c.2216_2223del (p.Gln739ProfsTer?) c.2162_2169del (p.Gln721ProfsTer?) c.1559_1566del (p.Gln520ProfsTer?) c.2069_2076del (p.Gln690ProfsTer?) c.1730_1737del (p.Gln577ProfsTer?) c.2078_2085del (p.Gln693ProfsTer?) c.2186_2193del (p.Gln729ProfsTer?) c.2150_2157del (p.Gln717ProfsTer?) c.2108_2115del (p.Gln703ProfsTer?) c.1680-6258_1680-6251del (n.1680-6258_1680-6251del) c.2204_2211del (p.Gln735ProfsTer?) c.2270_2277del (p.Gln757ProfsTer?) c.2267_2274del (p.Gln756ProfsTer?) c.2240_2247del (p.Gln747ProfsTer?) c.2159_2166del (p.Gln720ProfsTer?) c.2144_2151del (p.Gln715ProfsTer?) c.1751_1758del (p.Gln584ProfsTer?) c.2213_2220del (p.Gln738ProfsTer?) c.2147_2154del (p.Gln716ProfsTer?) c.2105_2112del (p.Gln702ProfsTer?) c.1178_1185del (p.Gln393ProfsTer?) | |
20 | g.63407107del | CA2697547449 | KCNQ2 | c.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 |
20 | g.63407107T>A | CA409638798 | KCNQ2 | c.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) | |
20 | g.63407107T>C | CA409638800 | KCNQ2 | c.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 |
20 | g.63407107T>G | CA409638801 | KCNQ2 | c.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) | |
20 | g.63407108G>A | CA409638805 | KCNQ2 | c.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 |
20 | g.63407108G>C | CA409638806 | KCNQ2 | c.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) | |
20 | g.63407108G>T | CA409638809 | KCNQ2 | c.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 |
20 | g.63407109C>A | CA409638811 | KCNQ2 | c.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 |
20 | g.63407109C>G | CA409638812 | KCNQ2 | c.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) | |
20 | g.63407109C>T | CA409638814 | KCNQ2 | c.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 |
20 | g.63407110C>A | CA409638820 | KCNQ2 | c.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) | |
20 | g.63407110C>G | CA409638818 | KCNQ2 | c.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) | |
20 | g.63407110C>T | CA409638817 | KCNQ2 | c.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) | |
20 | g.63407110_63407113delinsCAGG | CA2374774421 | KCNQ2 | c.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=) | |
20 | g.63407111A>C | CA409638822 | KCNQ2 | c.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) | |
20 | g.63407111A>G | CA409638824 | KCNQ2 | c.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 |
20 | g.63407111A>T | CA409638826 | KCNQ2 | c.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 |
20 | g.63407114_63407116del | CA636614189 | KCNQ2 | c.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 |
20 | g.63407112G>A | CA511339515 | KCNQ2 | c.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 |
20 | g.63407112G>C | CA511339516 | KCNQ2 | c.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=) | |
20 | g.63407112G>T | CA511339517 | KCNQ2 | c.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 |
20 | g.63407113G>A | CA409638828 | KCNQ2 | c.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) | |
20 | g.63407113G>C | CA409638829 | KCNQ2 | c.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) | |
20 | g.63407113G>T | CA409638831 | KCNQ2 | c.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 |
20 | g.63407114A>C | CA409638832 | KCNQ2 | c.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) | |
20 | g.63407114A>G | CA409638834 | KCNQ2 | c.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 |
20 | g.63407114A>T | CA409638836 | KCNQ2 | c.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 |
20 | g.63407115G>A | CA511339518 | KCNQ2 | c.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 |
20 | g.63407115G>C | CA511339519 | KCNQ2 | c.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=) | |
20 | g.63407115G>T | CA511339520 | KCNQ2 | c.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 |
20 | g.63407116dup | CA2842871704 | KCNQ2 | c.2202dup (p.Ser735LeufsTer?) c.2148dup (p.Ser717LeufsTer?) c.1545dup (p.Ser516LeufsTer?) c.2055dup (p.Ser686LeufsTer?) c.1716dup (p.Ser573LeufsTer?) c.2064dup (p.Ser689LeufsTer?) c.2172dup (p.Ser725LeufsTer?) c.2136dup (p.Ser713LeufsTer?) c.2094dup (p.Ser699LeufsTer?) c.1680-6272dup (n.1680-6272dup) c.2190dup (p.Ser731LeufsTer?) c.2256dup (p.Ser753LeufsTer?) c.2253dup (p.Ser752LeufsTer?) c.2226dup (p.Ser743LeufsTer?) c.2145dup (p.Ser716LeufsTer?) c.2130dup (p.Ser711LeufsTer?) c.1737dup (p.Ser580LeufsTer?) c.2199dup (p.Ser734LeufsTer?) c.2133dup (p.Ser712LeufsTer?) c.2091dup (p.Ser698LeufsTer?) c.1164dup (p.Ser389LeufsTer?) | |
20 | g.63407116G>A | CA347943 | KCNQ2 | c.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 |
20 | g.63407116G>C | CA409638839 | KCNQ2 | c.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) | |
20 | g.63407116G= | CA2374774422 | KCNQ2 | c.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=) | |
20 | g.63407116G>T | CA409638841 | KCNQ2 | c.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 |
20 | g.63407117T>A | CA409638844 | KCNQ2 | c.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) | |
20 | g.63407117T>C | CA409638846 | KCNQ2 | c.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) | |
20 | g.63407117T>G | CA409638843 | KCNQ2 | c.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 |
20 | g.63407117T= | CA2374774423 | KCNQ2 | c.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=) | |
20 | g.63407118G>A | CA511339521 | KCNQ2 | c.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 |
20 | g.63407118G>C | CA511339523 | KCNQ2 | c.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 |
20 | g.63407118G= | CA2374774424 | KCNQ2 | c.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=) | |
20 | g.63407118G>T | CA511339522 | KCNQ2 | c.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 |
20 | g.63407119del | CA2842871705 | KCNQ2 | c.2199del (p.Thr734ProfsTer?) c.2145del (p.Thr716ProfsTer?) c.1542del (p.Thr515ProfsTer?) c.2052del (p.Thr685ProfsTer?) c.1713del (p.Thr572ProfsTer?) c.2061del (p.Thr688ProfsTer?) c.2169del (p.Thr724ProfsTer?) c.2133del (p.Thr712ProfsTer?) c.2091del (p.Thr698ProfsTer?) c.1680-6275del (n.1680-6275del) c.2187del (p.Thr730ProfsTer?) c.2253del (p.Thr752ProfsTer?) c.2250del (p.Thr751ProfsTer?) c.2223del (p.Thr742ProfsTer?) c.2142del (p.Thr715ProfsTer?) c.2127del (p.Thr710ProfsTer?) c.1734del (p.Thr579ProfsTer?) c.2196del (p.Thr733ProfsTer?) c.2130del (p.Thr711ProfsTer?) c.2088del (p.Thr697ProfsTer?) c.1161del (p.Thr388ProfsTer?) | |
20 | g.63407119G>A | CA409638848 | KCNQ2 | c.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) | |
20 | g.63407119G>C | CA409638850 | KCNQ2 | c.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 |
20 | g.63407119G>T | CA409638852 | KCNQ2 | c.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 |
20 | g.63407120A>C | CA409638854 | KCNQ2 | c.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) | |
20 | g.63407120A>G | CA409638856 | KCNQ2 | c.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 |
20 | g.63407120A>T | CA409638858 | KCNQ2 | c.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) | |
20 | g.63407121G>A | CA511339524 | KCNQ2 | c.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 |
20 | g.63407121G>C | CA511339525 | KCNQ2 | c.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=) | |
20 | g.63407121G= | CA2374774425 | KCNQ2 | c.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=) | |
20 | g.63407121G>T | CA511339526 | KCNQ2 | c.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 |
20 | g.63407123del | CA2839291611 | KCNQ2 | c.2196del (p.Ser733ProfsTer?) c.2142del (p.Ser715ProfsTer?) c.1539del (p.Ser514ProfsTer?) c.2049del (p.Ser684ProfsTer?) c.1710del (p.Ser571ProfsTer?) c.2058del (p.Ser687ProfsTer?) c.2166del (p.Ser723ProfsTer?) c.2130del (p.Ser711ProfsTer?) c.2088del (p.Ser697ProfsTer?) c.1680-6278del (n.1680-6278del) c.2184del (p.Ser729ProfsTer?) c.2250del (p.Ser751ProfsTer?) c.2247del (p.Ser750ProfsTer?) c.2220del (p.Ser741ProfsTer?) c.2139del (p.Ser714ProfsTer?) c.2124del (p.Ser709ProfsTer?) c.1731del (p.Ser578ProfsTer?) c.2193del (p.Ser732ProfsTer?) c.2127del (p.Ser710ProfsTer?) c.2085del (p.Ser696ProfsTer?) c.1158del (p.Ser387ProfsTer?) | |
20 | g.63407122G>A | CA409638860 | KCNQ2 | c.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) | |
20 | g.63407122G>C | CA409638862 | KCNQ2 | c.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) | |
20 | g.63407122G= | CA2374774426 | KCNQ2 | c.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=) | |
20 | g.63407122G>T | CA409638864 | KCNQ2 | c.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 |
20 | g.63407123G>A | CA409638866 | KCNQ2 | c.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) | |
20 | g.63407123G>C | CA409638867 | KCNQ2 | c.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) | |
20 | g.63407123G>T | CA409638868 | KCNQ2 | c.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 |
20 | g.63407124C>A | CA511339527 | KCNQ2 | c.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 |
20 | g.63407124C= | CA2374774427 | KCNQ2 | c.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=) | |
20 | g.63407124C>G | CA511339528 | KCNQ2 | c.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=) | |
20 | g.63407124C>T | CA9958139 | KCNQ2 | c.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 |
20 | g.63407125G>A | CA9958140 | KCNQ2 | c.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 |
20 | g.63407125G>C | CA409638873 | KCNQ2 | c.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) | |
20 | g.63407125G= | CA2374774428 | KCNQ2 | c.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=) | |
20 | g.63407125G>T | CA409638871 | KCNQ2 | c.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 |
20 | g.63407126G>A | CA409638874 | KCNQ2 | c.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 |
20 | g.63407126G>C | CA409638876 | KCNQ2 | c.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 |
20 | g.63407126G= | CA2374774429 | KCNQ2 | c.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=) | |
20 | g.63407126G>T | CA409638877 | KCNQ2 | c.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 |
20 | g.63407127A= | CA2374774430 | KCNQ2 | c.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=) | |
20 | g.63407127A>C | CA409638879 | KCNQ2 | c.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) | |
20 | g.63407127A>G | CA511339529 | KCNQ2 | c.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 |
20 | g.63407127A>T | CA409638881 | KCNQ2 | c.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) | |
20 | g.63407129_63407130del | CA2842871706 | KCNQ2 | c.2189_2190del (p.Cys730SerfsTer?) c.2135_2136del (p.Cys712SerfsTer?) c.1532_1533del (p.Cys511SerfsTer?) c.2042_2043del (p.Cys681SerfsTer?) c.1703_1704del (p.Cys568SerfsTer?) c.2051_2052del (p.Cys684SerfsTer?) c.2159_2160del (p.Cys720SerfsTer?) c.2123_2124del (p.Cys708SerfsTer?) c.2081_2082del (p.Cys694SerfsTer?) c.1680-6285_1680-6284del (n.1680-6285_1680-6284del) c.2177_2178del (p.Cys726SerfsTer?) c.2243_2244del (p.Cys748SerfsTer?) c.2240_2241del (p.Cys747SerfsTer?) c.2213_2214del (p.Cys738SerfsTer?) c.2132_2133del (p.Cys711SerfsTer?) c.2117_2118del (p.Cys706SerfsTer?) c.1724_1725del (p.Cys575SerfsTer?) c.2186_2187del (p.Cys729SerfsTer?) c.2120_2121del (p.Cys707SerfsTer?) c.2078_2079del (p.Cys693SerfsTer?) c.1151_1152del (p.Cys384SerfsTer?) | |
20 | g.63407128C>A | CA409638884 | KCNQ2 | c.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 |
20 | g.63407128C>G | CA409638885 | KCNQ2 | c.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) | |
20 | g.63407128C>T | CA409638887 | KCNQ2 | c.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 |
20 | g.63407129A>C | CA409638889 | KCNQ2 | c.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) | |
20 | g.63407129A>G | CA409638891 | KCNQ2 | c.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) | |
20 | g.63407129A>T | CA409638893 | KCNQ2 | c.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) | |
20 | g.63407130C>A | CA409638895 | KCNQ2 | c.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 |
20 | g.63407130C= | CA2374774431 | KCNQ2 | c.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=) | |
20 | g.63407130C>G | CA409638897 | KCNQ2 | c.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) | |
20 | g.63407130C>T | CA317422227 | KCNQ2 | c.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 |
20 | g.63407131T>A | CA409638903 | KCNQ2 | c.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 |
20 | g.63407131T>C | CA409638901 | KCNQ2 | c.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 |
20 | g.63407131T>G | CA409638900 | KCNQ2 | c.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 |
20 | g.63407132G>A | CA409638906 | KCNQ2 | c.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 |
20 | g.63407132G>C | CA409638910 | KCNQ2 | c.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) | |
20 | g.63407132G>T | CA409638907 | KCNQ2 | c.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 |
20 | g.63407133G>A | CA511339532 | KCNQ2 | c.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 |
20 | g.63407133G>C | CA511339530 | KCNQ2 | c.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=) | |
20 | g.63407133G>T | CA511339531 | KCNQ2 | c.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 |
20 | g.63407134A= | CA2374774432 | KCNQ2 | c.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=) | |
20 | g.63407134A>C | CA409638912 | KCNQ2 | c.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 |
20 | g.63407134A>G | CA409638915 | KCNQ2 | c.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) | |
20 | g.63407134A>T | CA409638913 | KCNQ2 | c.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) | |
20 | g.63407135C>A | CA409638917 | KCNQ2 | c.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 |
20 | g.63407135C>G | CA409638920 | KCNQ2 | c.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 |
20 | g.63407135C>T | CA409638918 | KCNQ2 | c.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 |
20 | g.63407135_63407136delinsCA | CA2374774433 | KCNQ2 | c.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=) | |
20 | g.63407135_63407137delinsCAG | CA2374774434 | KCNQ2 | c.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=) | |
20 | g.63407136del | CA315556 | KCNQ2 | c.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 |
20 | g.63407136A= | CA2374774435 | KCNQ2 | c.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=) | |
20 | g.63407136A>C | CA511339533 | KCNQ2 | c.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 |
20 | g.63407136A>G | CA9958141 | KCNQ2 | c.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 |
20 | g.63407136A>T | CA511339534 | KCNQ2 | c.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=) | |
20 | g.63407136_63407137del | CA204876 | KCNQ2 | c.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 |
20 | g.63407136_63407148delinsAGGGGGCGCGGCC | CA2374774436 | KCNQ2 | c.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=) | |
20 | g.63407137G>A | CA409638925 | KCNQ2 | c.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 |
20 | g.63407137G>C | CA409638927 | KCNQ2 | c.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) | |
20 | g.63407137G= | CA2374774437 | KCNQ2 | c.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=) | |
20 | g.63407137G>T | CA409638929 | KCNQ2 | c.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 |
20 | g.63407141dup | CA16620962 | KCNQ2 | c.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 |
20 | g.63407141del | CA2653805632 | KCNQ2 | c.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 |
20 | g.63407145_63407156del | CA2374774438 | KCNQ2 | c.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 |
20 | g.63407138G>A | CA409638931 | KCNQ2 | c.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 |
20 | g.63407138G>C | CA409638933 | KCNQ2 | c.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) | |
20 | g.63407138G>T | CA409638936 | KCNQ2 | c.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 |
20 | g.63407139G>A | CA511339273 | KCNQ2 | c.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 |
20 | g.63407139G>C | CA511339275 | KCNQ2 | c.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 |
20 | g.63407139G= | CA2374774439 | KCNQ2 | c.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=) | |
20 | g.63407139G>T | CA511339276 | KCNQ2 | c.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 |
20 | g.63407140G>A | CA409638938 | KCNQ2 | c.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 |
20 | g.63407140G>C | CA409638943 | KCNQ2 | c.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) | |
20 | g.63407140G= | CA2374774440 | KCNQ2 | c.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=) | |
20 | g.63407140G>T | CA409638945 | KCNQ2 | c.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 |
20 | g.63407141G>A | CA409638947 | KCNQ2 | c.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 |
20 | g.63407141G>C | CA9958142 | KCNQ2 | c.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 |
20 | g.63407141G= | CA2374774441 | KCNQ2 | c.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=) | |
20 | g.63407141G>T | CA409638949 | KCNQ2 | c.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 |
20 | g.63407142C>A | CA511339282 | KCNQ2 | c.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 |
20 | g.63407142C= | CA2374774442 | KCNQ2 | c.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=) | |
20 | g.63407142C>G | CA511339283 | KCNQ2 | c.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 |
20 | g.63407142C>T | CA511339284 | KCNQ2 | c.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 |
20 | g.63407143G>A | CA409638952 | KCNQ2 | c.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 |
20 | g.63407143G>C | CA9958143 | KCNQ2 | c.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 |
20 | g.63407143G= | CA2374774443 | KCNQ2 | c.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=) | |
20 | g.63407143G>T | CA409638954 | KCNQ2 | c.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 |
20 | g.63407144C>A | CA409638955 | KCNQ2 | c.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 |
20 | g.63407144C= | CA2374774444 | KCNQ2 | c.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=) | |
20 | g.63407144C>G | CA409638956 | KCNQ2 | c.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) | |
20 | g.63407144C>T | CA9958144 | KCNQ2 | c.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 |
20 | g.63407145G>A | CA9958145 | KCNQ2 | c.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 |
20 | g.63407145G>C | CA511339289 | KCNQ2 | c.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=) | |
20 | g.63407145G= | CA2374774445 | KCNQ2 | c.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=) | |
20 | g.63407145G>T | CA511339291 | KCNQ2 | c.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 |
20 | g.63407146del | CA2695230035 | KCNQ2 | c.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?) | |
20 | g.63407146G>A | CA409638957 | KCNQ2 | c.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 |
20 | g.63407146G>C | CA409638958 | KCNQ2 | c.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) | |
20 | g.63407146G= | CA2374774446 | KCNQ2 | c.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=) | |
20 | g.63407146G>T | CA317422271 | KCNQ2 | c.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 |
20 | g.63407147C>A | CA409638959 | KCNQ2 | c.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 |
20 | g.63407147C>G | CA409638960 | KCNQ2 | c.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) | |
20 | g.63407147C>T | CA409638961 | KCNQ2 | c.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 |
20 | g.63407148C>A | CA511339294 | KCNQ2 | c.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 |
20 | g.63407148C= | CA2374774447 | KCNQ2 | c.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=) | |
20 | g.63407148C>G | CA9958147 | KCNQ2 | c.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 |
20 | g.63407148C>T | CA9958146 | KCNQ2 | c.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 |
20 | g.63407148_63407149delinsCG | CA2374774448 | KCNQ2 | c.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=) | |
20 | g.63407149G>A | CA9958148 | KCNQ2 | c.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 |
20 | g.63407149G>C | CA409638962 | KCNQ2 | c.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 |
20 | g.63407149G= | CA2374774449 | KCNQ2 | c.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=) | |
20 | g.63407149G>T | CA409638963 | KCNQ2 | c.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 |
20 | g.63407153dup | CA2499225801 | KCNQ2 | c.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 |
20 | g.63407153del | CA658799397 | KCNQ2 | c.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 |
20 | g.63407150G>A | CA9958149 | KCNQ2 | c.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 |
20 | g.63407150G>C | CA409638964 | KCNQ2 | c.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 |
20 | g.63407150G= | CA2374774450 | KCNQ2 | c.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=) | |
20 | g.63407150G>T | CA409638965 | KCNQ2 | c.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 |
20 | g.63407151G>A | CA511339303 | KCNQ2 | c.2166C>T (p.Pro722=) c.2112C>T (p.Pro704=) c.1509C>T (p.Pro503=) c.2019C>T (p.Pro673=) c.1680C>T (p.Pro560=) c.2028C>T (p.Pro676=) c.2136C>T (p.Pro712=) c.2100C>T (p.Pro700=) c.2058C>T (p.Pro686=) c.1679+6299C>T (n.1679+6299C>T) c.2154C>T (p.Pro718=) c.2220C>T (p.Pro740=) c.2217C>T (p.Pro739=) c.2190C>T (p.Pro730=) c.2109C>T (p.Pro703=) c.2094C>T (p.Pro698=) c.1701C>T (p.Pro567=) c.2163C>T (p.Pro721=) c.2097C>T (p.Pro699=) c.2055C>T (p.Pro685=) c.1128C>T (p.Pro376=) | |
20 | g.63407151G>C | CA511339304 | KCNQ2 | c.2166C>G (p.Pro722=) c.2112C>G (p.Pro704=) c.1509C>G (p.Pro503=) c.2019C>G (p.Pro673=) c.1680C>G (p.Pro560=) c.2028C>G (p.Pro676=) c.2136C>G (p.Pro712=) c.2100C>G (p.Pro700=) c.2058C>G (p.Pro686=) c.1679+6299C>G (n.1679+6299C>G) c.2154C>G (p.Pro718=) c.2220C>G (p.Pro740=) c.2217C>G (p.Pro739=) c.2190C>G (p.Pro730=) c.2109C>G (p.Pro703=) c.2094C>G (p.Pro698=) c.1701C>G (p.Pro567=) c.2163C>G (p.Pro721=) c.2097C>G (p.Pro699=) c.2055C>G (p.Pro685=) c.1128C>G (p.Pro376=) | |
20 | g.63407151G>T | CA511339305 | KCNQ2 | c.2166C>A (p.Pro722=) c.2112C>A (p.Pro704=) c.1509C>A (p.Pro503=) c.2019C>A (p.Pro673=) c.1680C>A (p.Pro560=) c.2028C>A (p.Pro676=) c.2136C>A (p.Pro712=) c.2100C>A (p.Pro700=) c.2058C>A (p.Pro686=) c.1679+6299C>A (n.1679+6299C>A) c.2154C>A (p.Pro718=) c.2220C>A (p.Pro740=) c.2217C>A (p.Pro739=) c.2190C>A (p.Pro730=) c.2109C>A (p.Pro703=) c.2094C>A (p.Pro698=) c.1701C>A (p.Pro567=) c.2163C>A (p.Pro721=) c.2097C>A (p.Pro699=) c.2055C>A (p.Pro685=) c.1128C>A (p.Pro376=) | gnomAD v4 |
20 | g.63407152G>A | CA409638966 | KCNQ2 | c.2165C>T (p.Pro722Leu) c.2111C>T (p.Pro704Leu) c.1508C>T (p.Pro503Leu) c.2018C>T (p.Pro673Leu) c.1679C>T (p.Pro560Leu) c.2027C>T (p.Pro676Leu) c.2135C>T (p.Pro712Leu) c.2099C>T (p.Pro700Leu) c.2057C>T (p.Pro686Leu) c.1679+6298C>T (n.1679+6298C>T) c.2153C>T (p.Pro718Leu) c.2219C>T (p.Pro740Leu) c.2216C>T (p.Pro739Leu) c.2189C>T (p.Pro730Leu) c.2108C>T (p.Pro703Leu) c.2093C>T (p.Pro698Leu) c.1700C>T (p.Pro567Leu) c.2162C>T (p.Pro721Leu) c.2096C>T (p.Pro699Leu) c.2054C>T (p.Pro685Leu) c.1127C>T (p.Pro376Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407152G>C | CA409638967 | KCNQ2 | c.2165C>G (p.Pro722Arg) c.2111C>G (p.Pro704Arg) c.1508C>G (p.Pro503Arg) c.2018C>G (p.Pro673Arg) c.1679C>G (p.Pro560Arg) c.2027C>G (p.Pro676Arg) c.2135C>G (p.Pro712Arg) c.2099C>G (p.Pro700Arg) c.2057C>G (p.Pro686Arg) c.1679+6298C>G (n.1679+6298C>G) c.2153C>G (p.Pro718Arg) c.2219C>G (p.Pro740Arg) c.2216C>G (p.Pro739Arg) c.2189C>G (p.Pro730Arg) c.2108C>G (p.Pro703Arg) c.2093C>G (p.Pro698Arg) c.1700C>G (p.Pro567Arg) c.2162C>G (p.Pro721Arg) c.2096C>G (p.Pro699Arg) c.2054C>G (p.Pro685Arg) c.1127C>G (p.Pro376Arg) | |
20 | g.63407152G= | CA2374774451 | KCNQ2 | c.2165C= (p.Pro722=) c.2111C= (p.Pro704=) c.1508C= (p.Pro503=) c.2018C= (p.Pro673=) c.1679C= (p.Pro560=) c.2027C= (p.Pro676=) c.2135C= (p.Pro712=) c.2099C= (p.Pro700=) c.2057C= (p.Pro686=) c.1679+6298C= (n.1679+6298C=) c.2153C= (p.Pro718=) c.2219C= (p.Pro740=) c.2216C= (p.Pro739=) c.2189C= (p.Pro730=) c.2108C= (p.Pro703=) c.2093C= (p.Pro698=) c.1700C= (p.Pro567=) c.2162C= (p.Pro721=) c.2096C= (p.Pro699=) c.2054C= (p.Pro685=) c.1127C= (p.Pro376=) | |
20 | g.63407152G>T | CA409638968 | KCNQ2 | c.2165C>A (p.Pro722His) c.2111C>A (p.Pro704His) c.1508C>A (p.Pro503His) c.2018C>A (p.Pro673His) c.1679C>A (p.Pro560His) c.2027C>A (p.Pro676His) c.2135C>A (p.Pro712His) c.2099C>A (p.Pro700His) c.2057C>A (p.Pro686His) c.1679+6298C>A (n.1679+6298C>A) c.2153C>A (p.Pro718His) c.2219C>A (p.Pro740His) c.2216C>A (p.Pro739His) c.2189C>A (p.Pro730His) c.2108C>A (p.Pro703His) c.2093C>A (p.Pro698His) c.1700C>A (p.Pro567His) c.2162C>A (p.Pro721His) c.2096C>A (p.Pro699His) c.2054C>A (p.Pro685His) c.1127C>A (p.Pro376His) | gnomAD v4 |
20 | g.63407153G>A | CA409638969 | KCNQ2 | c.2164C>T (p.Pro722Ser) c.2110C>T (p.Pro704Ser) c.1507C>T (p.Pro503Ser) c.2017C>T (p.Pro673Ser) c.1678C>T (p.Pro560Ser) c.2026C>T (p.Pro676Ser) c.2134C>T (p.Pro712Ser) c.2098C>T (p.Pro700Ser) c.2056C>T (p.Pro686Ser) c.1679+6297C>T (n.1679+6297C>T) c.2152C>T (p.Pro718Ser) c.2218C>T (p.Pro740Ser) c.2215C>T (p.Pro739Ser) c.2188C>T (p.Pro730Ser) c.2107C>T (p.Pro703Ser) c.2092C>T (p.Pro698Ser) c.1699C>T (p.Pro567Ser) c.2161C>T (p.Pro721Ser) c.2095C>T (p.Pro699Ser) c.2053C>T (p.Pro685Ser) c.1126C>T (p.Pro376Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407153G>C | CA409638970 | KCNQ2 | c.2164C>G (p.Pro722Ala) c.2110C>G (p.Pro704Ala) c.1507C>G (p.Pro503Ala) c.2017C>G (p.Pro673Ala) c.1678C>G (p.Pro560Ala) c.2026C>G (p.Pro676Ala) c.2134C>G (p.Pro712Ala) c.2098C>G (p.Pro700Ala) c.2056C>G (p.Pro686Ala) c.1679+6297C>G (n.1679+6297C>G) c.2152C>G (p.Pro718Ala) c.2218C>G (p.Pro740Ala) c.2215C>G (p.Pro739Ala) c.2188C>G (p.Pro730Ala) c.2107C>G (p.Pro703Ala) c.2092C>G (p.Pro698Ala) c.1699C>G (p.Pro567Ala) c.2161C>G (p.Pro721Ala) c.2095C>G (p.Pro699Ala) c.2053C>G (p.Pro685Ala) c.1126C>G (p.Pro376Ala) | |
20 | g.63407153G= | CA2374774452 | KCNQ2 | c.2164C= (p.Pro722=) c.2110C= (p.Pro704=) c.1507C= (p.Pro503=) c.2017C= (p.Pro673=) c.1678C= (p.Pro560=) c.2026C= (p.Pro676=) c.2134C= (p.Pro712=) c.2098C= (p.Pro700=) c.2056C= (p.Pro686=) c.1679+6297C= (n.1679+6297C=) c.2152C= (p.Pro718=) c.2218C= (p.Pro740=) c.2215C= (p.Pro739=) c.2188C= (p.Pro730=) c.2107C= (p.Pro703=) c.2092C= (p.Pro698=) c.1699C= (p.Pro567=) c.2161C= (p.Pro721=) c.2095C= (p.Pro699=) c.2053C= (p.Pro685=) c.1126C= (p.Pro376=) | |
20 | g.63407153G>T | CA409638971 | KCNQ2 | c.2164C>A (p.Pro722Thr) c.2110C>A (p.Pro704Thr) c.1507C>A (p.Pro503Thr) c.2017C>A (p.Pro673Thr) c.1678C>A (p.Pro560Thr) c.2026C>A (p.Pro676Thr) c.2134C>A (p.Pro712Thr) c.2098C>A (p.Pro700Thr) c.2056C>A (p.Pro686Thr) c.1679+6297C>A (n.1679+6297C>A) c.2152C>A (p.Pro718Thr) c.2218C>A (p.Pro740Thr) c.2215C>A (p.Pro739Thr) c.2188C>A (p.Pro730Thr) c.2107C>A (p.Pro703Thr) c.2092C>A (p.Pro698Thr) c.1699C>A (p.Pro567Thr) c.2161C>A (p.Pro721Thr) c.2095C>A (p.Pro699Thr) c.2053C>A (p.Pro685Thr) c.1126C>A (p.Pro376Thr) | gnomAD v4 |
20 | g.63407154C>A | CA9958150 | KCNQ2 | c.2163G>T (p.Ala721=) c.2109G>T (p.Ala703=) c.1506G>T (p.Ala502=) c.2016G>T (p.Ala672=) c.1677G>T (p.Ala559=) c.2025G>T (p.Ala675=) c.2133G>T (p.Ala711=) c.2097G>T (p.Ala699=) c.2055G>T (p.Ala685=) c.1679+6296G>T (n.1679+6296G>T) c.2151G>T (p.Ala717=) c.2217G>T (p.Ala739=) c.2214G>T (p.Ala738=) c.2187G>T (p.Ala729=) c.2106G>T (p.Ala702=) c.2091G>T (p.Ala697=) c.1698G>T (p.Ala566=) c.2160G>T (p.Ala720=) c.2094G>T (p.Ala698=) c.2052G>T (p.Ala684=) c.1125G>T (p.Ala375=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407154C= | CA2374774453 | KCNQ2 | c.2163G= (p.Ala721=) c.2109G= (p.Ala703=) c.1506G= (p.Ala502=) c.2016G= (p.Ala672=) c.1677G= (p.Ala559=) c.2025G= (p.Ala675=) c.2133G= (p.Ala711=) c.2097G= (p.Ala699=) c.2055G= (p.Ala685=) c.1679+6296G= (n.1679+6296G=) c.2151G= (p.Ala717=) c.2217G= (p.Ala739=) c.2214G= (p.Ala738=) c.2187G= (p.Ala729=) c.2106G= (p.Ala702=) c.2091G= (p.Ala697=) c.1698G= (p.Ala566=) c.2160G= (p.Ala720=) c.2094G= (p.Ala698=) c.2052G= (p.Ala684=) c.1125G= (p.Ala375=) | |
20 | g.63407154C>G | CA511339311 | KCNQ2 | c.2163G>C (p.Ala721=) c.2109G>C (p.Ala703=) c.1506G>C (p.Ala502=) c.2016G>C (p.Ala672=) c.1677G>C (p.Ala559=) c.2025G>C (p.Ala675=) c.2133G>C (p.Ala711=) c.2097G>C (p.Ala699=) c.2055G>C (p.Ala685=) c.1679+6296G>C (n.1679+6296G>C) c.2151G>C (p.Ala717=) c.2217G>C (p.Ala739=) c.2214G>C (p.Ala738=) c.2187G>C (p.Ala729=) c.2106G>C (p.Ala702=) c.2091G>C (p.Ala697=) c.1698G>C (p.Ala566=) c.2160G>C (p.Ala720=) c.2094G>C (p.Ala698=) c.2052G>C (p.Ala684=) c.1125G>C (p.Ala375=) | |
20 | g.63407154C>T | CA511339312 | KCNQ2 | c.2163G>A (p.Ala721=) c.2109G>A (p.Ala703=) c.1506G>A (p.Ala502=) c.2016G>A (p.Ala672=) c.1677G>A (p.Ala559=) c.2025G>A (p.Ala675=) c.2133G>A (p.Ala711=) c.2097G>A (p.Ala699=) c.2055G>A (p.Ala685=) c.1679+6296G>A (n.1679+6296G>A) c.2151G>A (p.Ala717=) c.2217G>A (p.Ala739=) c.2214G>A (p.Ala738=) c.2187G>A (p.Ala729=) c.2106G>A (p.Ala702=) c.2091G>A (p.Ala697=) c.1698G>A (p.Ala566=) c.2160G>A (p.Ala720=) c.2094G>A (p.Ala698=) c.2052G>A (p.Ala684=) c.1125G>A (p.Ala375=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407155G>A | CA9958151 | KCNQ2 | c.2162C>T (p.Ala721Val) c.2108C>T (p.Ala703Val) c.1505C>T (p.Ala502Val) c.2015C>T (p.Ala672Val) c.1676C>T (p.Ala559Val) c.2024C>T (p.Ala675Val) c.2132C>T (p.Ala711Val) c.2096C>T (p.Ala699Val) c.2054C>T (p.Ala685Val) c.1679+6295C>T (n.1679+6295C>T) c.2150C>T (p.Ala717Val) c.2216C>T (p.Ala739Val) c.2213C>T (p.Ala738Val) c.2186C>T (p.Ala729Val) c.2105C>T (p.Ala702Val) c.2090C>T (p.Ala697Val) c.1697C>T (p.Ala566Val) c.2159C>T (p.Ala720Val) c.2093C>T (p.Ala698Val) c.2051C>T (p.Ala684Val) c.1124C>T (p.Ala375Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407155G>C | CA409638972 | KCNQ2 | c.2162C>G (p.Ala721Gly) c.2108C>G (p.Ala703Gly) c.1505C>G (p.Ala502Gly) c.2015C>G (p.Ala672Gly) c.1676C>G (p.Ala559Gly) c.2024C>G (p.Ala675Gly) c.2132C>G (p.Ala711Gly) c.2096C>G (p.Ala699Gly) c.2054C>G (p.Ala685Gly) c.1679+6295C>G (n.1679+6295C>G) c.2150C>G (p.Ala717Gly) c.2216C>G (p.Ala739Gly) c.2213C>G (p.Ala738Gly) c.2186C>G (p.Ala729Gly) c.2105C>G (p.Ala702Gly) c.2090C>G (p.Ala697Gly) c.1697C>G (p.Ala566Gly) c.2159C>G (p.Ala720Gly) c.2093C>G (p.Ala698Gly) c.2051C>G (p.Ala684Gly) c.1124C>G (p.Ala375Gly) | |
20 | g.63407155G= | CA2374774454 | KCNQ2 | c.2162C= (p.Ala721=) c.2108C= (p.Ala703=) c.1505C= (p.Ala502=) c.2015C= (p.Ala672=) c.1676C= (p.Ala559=) c.2024C= (p.Ala675=) c.2132C= (p.Ala711=) c.2096C= (p.Ala699=) c.2054C= (p.Ala685=) c.1679+6295C= (n.1679+6295C=) c.2150C= (p.Ala717=) c.2216C= (p.Ala739=) c.2213C= (p.Ala738=) c.2186C= (p.Ala729=) c.2105C= (p.Ala702=) c.2090C= (p.Ala697=) c.1697C= (p.Ala566=) c.2159C= (p.Ala720=) c.2093C= (p.Ala698=) c.2051C= (p.Ala684=) c.1124C= (p.Ala375=) | |
20 | g.63407155G>T | CA409638973 | KCNQ2 | c.2162C>A (p.Ala721Glu) c.2108C>A (p.Ala703Glu) c.1505C>A (p.Ala502Glu) c.2015C>A (p.Ala672Glu) c.1676C>A (p.Ala559Glu) c.2024C>A (p.Ala675Glu) c.2132C>A (p.Ala711Glu) c.2096C>A (p.Ala699Glu) c.2054C>A (p.Ala685Glu) c.1679+6295C>A (n.1679+6295C>A) c.2150C>A (p.Ala717Glu) c.2216C>A (p.Ala739Glu) c.2213C>A (p.Ala738Glu) c.2186C>A (p.Ala729Glu) c.2105C>A (p.Ala702Glu) c.2090C>A (p.Ala697Glu) c.1697C>A (p.Ala566Glu) c.2159C>A (p.Ala720Glu) c.2093C>A (p.Ala698Glu) c.2051C>A (p.Ala684Glu) c.1124C>A (p.Ala375Glu) | gnomAD v4 |
20 | g.63407156C>A | CA409638974 | KCNQ2 | c.2161G>T (p.Ala721Ser) c.2107G>T (p.Ala703Ser) c.1504G>T (p.Ala502Ser) c.2014G>T (p.Ala672Ser) c.1675G>T (p.Ala559Ser) c.2023G>T (p.Ala675Ser) c.2131G>T (p.Ala711Ser) c.2095G>T (p.Ala699Ser) c.2053G>T (p.Ala685Ser) c.1679+6294G>T (n.1679+6294G>T) c.2149G>T (p.Ala717Ser) c.2215G>T (p.Ala739Ser) c.2212G>T (p.Ala738Ser) c.2185G>T (p.Ala729Ser) c.2104G>T (p.Ala702Ser) c.2089G>T (p.Ala697Ser) c.1696G>T (p.Ala566Ser) c.2158G>T (p.Ala720Ser) c.2092G>T (p.Ala698Ser) c.2050G>T (p.Ala684Ser) c.1123G>T (p.Ala375Ser) | |
20 | g.63407156C>G | CA409638975 | KCNQ2 | c.2161G>C (p.Ala721Pro) c.2107G>C (p.Ala703Pro) c.1504G>C (p.Ala502Pro) c.2014G>C (p.Ala672Pro) c.1675G>C (p.Ala559Pro) c.2023G>C (p.Ala675Pro) c.2131G>C (p.Ala711Pro) c.2095G>C (p.Ala699Pro) c.2053G>C (p.Ala685Pro) c.1679+6294G>C (n.1679+6294G>C) c.2149G>C (p.Ala717Pro) c.2215G>C (p.Ala739Pro) c.2212G>C (p.Ala738Pro) c.2185G>C (p.Ala729Pro) c.2104G>C (p.Ala702Pro) c.2089G>C (p.Ala697Pro) c.1696G>C (p.Ala566Pro) c.2158G>C (p.Ala720Pro) c.2092G>C (p.Ala698Pro) c.2050G>C (p.Ala684Pro) c.1123G>C (p.Ala375Pro) | |
20 | g.63407156C>T | CA409638976 | KCNQ2 | c.2161G>A (p.Ala721Thr) c.2107G>A (p.Ala703Thr) c.1504G>A (p.Ala502Thr) c.2014G>A (p.Ala672Thr) c.1675G>A (p.Ala559Thr) c.2023G>A (p.Ala675Thr) c.2131G>A (p.Ala711Thr) c.2095G>A (p.Ala699Thr) c.2053G>A (p.Ala685Thr) c.1679+6294G>A (n.1679+6294G>A) c.2149G>A (p.Ala717Thr) c.2215G>A (p.Ala739Thr) c.2212G>A (p.Ala738Thr) c.2185G>A (p.Ala729Thr) c.2104G>A (p.Ala702Thr) c.2089G>A (p.Ala697Thr) c.1696G>A (p.Ala566Thr) c.2158G>A (p.Ala720Thr) c.2092G>A (p.Ala698Thr) c.2050G>A (p.Ala684Thr) c.1123G>A (p.Ala375Thr) | gnomAD v4 |
20 | g.63407157C>A | CA511339318 | KCNQ2 | c.2160G>T (p.Ser720=) c.2106G>T (p.Ser702=) c.1503G>T (p.Ser501=) c.2013G>T (p.Ser671=) c.1674G>T (p.Ser558=) c.2022G>T (p.Ser674=) c.2130G>T (p.Ser710=) c.2094G>T (p.Ser698=) c.2052G>T (p.Ser684=) c.1679+6293G>T (n.1679+6293G>T) c.2148G>T (p.Ser716=) c.2214G>T (p.Ser738=) c.2211G>T (p.Ser737=) c.2184G>T (p.Ser728=) c.2103G>T (p.Ser701=) c.2088G>T (p.Ser696=) c.1695G>T (p.Ser565=) c.2157G>T (p.Ser719=) c.2091G>T (p.Ser697=) c.2049G>T (p.Ser683=) c.1122G>T (p.Ser374=) | gnomAD v4 |
20 | g.63407157C= | CA2374774455 | KCNQ2 | c.2160G= (p.Ser720=) c.2106G= (p.Ser702=) c.1503G= (p.Ser501=) c.2013G= (p.Ser671=) c.1674G= (p.Ser558=) c.2022G= (p.Ser674=) c.2130G= (p.Ser710=) c.2094G= (p.Ser698=) c.2052G= (p.Ser684=) c.1679+6293G= (n.1679+6293G=) c.2148G= (p.Ser716=) c.2214G= (p.Ser738=) c.2211G= (p.Ser737=) c.2184G= (p.Ser728=) c.2103G= (p.Ser701=) c.2088G= (p.Ser696=) c.1695G= (p.Ser565=) c.2157G= (p.Ser719=) c.2091G= (p.Ser697=) c.2049G= (p.Ser683=) c.1122G= (p.Ser374=) | |
20 | g.63407157C>G | CA511339319 | KCNQ2 | c.2160G>C (p.Ser720=) c.2106G>C (p.Ser702=) c.1503G>C (p.Ser501=) c.2013G>C (p.Ser671=) c.1674G>C (p.Ser558=) c.2022G>C (p.Ser674=) c.2130G>C (p.Ser710=) c.2094G>C (p.Ser698=) c.2052G>C (p.Ser684=) c.1679+6293G>C (n.1679+6293G>C) c.2148G>C (p.Ser716=) c.2214G>C (p.Ser738=) c.2211G>C (p.Ser737=) c.2184G>C (p.Ser728=) c.2103G>C (p.Ser701=) c.2088G>C (p.Ser696=) c.1695G>C (p.Ser565=) c.2157G>C (p.Ser719=) c.2091G>C (p.Ser697=) c.2049G>C (p.Ser683=) c.1122G>C (p.Ser374=) | gnomAD v4 |
20 | g.63407157C>T | CA302778 | KCNQ2 | c.2160G>A (p.Ser720=) c.2106G>A (p.Ser702=) c.1503G>A (p.Ser501=) c.2013G>A (p.Ser671=) c.1674G>A (p.Ser558=) c.2022G>A (p.Ser674=) c.2130G>A (p.Ser710=) c.2094G>A (p.Ser698=) c.2052G>A (p.Ser684=) c.1679+6293G>A (n.1679+6293G>A) c.2148G>A (p.Ser716=) c.2214G>A (p.Ser738=) c.2211G>A (p.Ser737=) c.2184G>A (p.Ser728=) c.2103G>A (p.Ser701=) c.2088G>A (p.Ser696=) c.1695G>A (p.Ser565=) c.2157G>A (p.Ser719=) c.2091G>A (p.Ser697=) c.2049G>A (p.Ser683=) c.1122G>A (p.Ser374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407158G>A | CA9958152 | KCNQ2 | c.2159C>T (p.Ser720Leu) c.2105C>T (p.Ser702Leu) c.1502C>T (p.Ser501Leu) c.2012C>T (p.Ser671Leu) c.1673C>T (p.Ser558Leu) c.2021C>T (p.Ser674Leu) c.2129C>T (p.Ser710Leu) c.2093C>T (p.Ser698Leu) c.2051C>T (p.Ser684Leu) c.1679+6292C>T (n.1679+6292C>T) c.2147C>T (p.Ser716Leu) c.2213C>T (p.Ser738Leu) c.2210C>T (p.Ser737Leu) c.2183C>T (p.Ser728Leu) c.2102C>T (p.Ser701Leu) c.2087C>T (p.Ser696Leu) c.1694C>T (p.Ser565Leu) c.2156C>T (p.Ser719Leu) c.2090C>T (p.Ser697Leu) c.2048C>T (p.Ser683Leu) c.1121C>T (p.Ser374Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407158G>C | CA409638977 | KCNQ2 | c.2159C>G (p.Ser720Trp) c.2105C>G (p.Ser702Trp) c.1502C>G (p.Ser501Trp) c.2012C>G (p.Ser671Trp) c.1673C>G (p.Ser558Trp) c.2021C>G (p.Ser674Trp) c.2129C>G (p.Ser710Trp) c.2093C>G (p.Ser698Trp) c.2051C>G (p.Ser684Trp) c.1679+6292C>G (n.1679+6292C>G) c.2147C>G (p.Ser716Trp) c.2213C>G (p.Ser738Trp) c.2210C>G (p.Ser737Trp) c.2183C>G (p.Ser728Trp) c.2102C>G (p.Ser701Trp) c.2087C>G (p.Ser696Trp) c.1694C>G (p.Ser565Trp) c.2156C>G (p.Ser719Trp) c.2090C>G (p.Ser697Trp) c.2048C>G (p.Ser683Trp) c.1121C>G (p.Ser374Trp) | |
20 | g.63407158G= | CA2374774457 | KCNQ2 | c.2159C= (p.Ser720=) c.2105C= (p.Ser702=) c.1502C= (p.Ser501=) c.2012C= (p.Ser671=) c.1673C= (p.Ser558=) c.2021C= (p.Ser674=) c.2129C= (p.Ser710=) c.2093C= (p.Ser698=) c.2051C= (p.Ser684=) c.1679+6292C= (n.1679+6292C=) c.2147C= (p.Ser716=) c.2213C= (p.Ser738=) c.2210C= (p.Ser737=) c.2183C= (p.Ser728=) c.2102C= (p.Ser701=) c.2087C= (p.Ser696=) c.1694C= (p.Ser565=) c.2156C= (p.Ser719=) c.2090C= (p.Ser697=) c.2048C= (p.Ser683=) c.1121C= (p.Ser374=) | |
20 | g.63407158G>T | CA409638978 | KCNQ2 | c.2159C>A (p.Ser720Ter) c.2105C>A (p.Ser702Ter) c.1502C>A (p.Ser501Ter) c.2012C>A (p.Ser671Ter) c.1673C>A (p.Ser558Ter) c.2021C>A (p.Ser674Ter) c.2129C>A (p.Ser710Ter) c.2093C>A (p.Ser698Ter) c.2051C>A (p.Ser684Ter) c.1679+6292C>A (n.1679+6292C>A) c.2147C>A (p.Ser716Ter) c.2213C>A (p.Ser738Ter) c.2210C>A (p.Ser737Ter) c.2183C>A (p.Ser728Ter) c.2102C>A (p.Ser701Ter) c.2087C>A (p.Ser696Ter) c.1694C>A (p.Ser565Ter) c.2156C>A (p.Ser719Ter) c.2090C>A (p.Ser697Ter) c.2048C>A (p.Ser683Ter) c.1121C>A (p.Ser374Ter) | gnomAD v4 |
20 | g.63407158_63407161delinsGAGA | CA2374774456 | KCNQ2 | c.2156_2159delinsTCTC (p.Phe719=) c.2102_2105delinsTCTC (p.Phe701=) c.1499_1502delinsTCTC (p.Phe500=) c.2009_2012delinsTCTC (p.Phe670=) c.1670_1673delinsTCTC (p.Phe557=) c.2018_2021delinsTCTC (p.Phe673=) c.2126_2129delinsTCTC (p.Phe709=) c.2090_2093delinsTCTC (p.Phe697=) c.2048_2051delinsTCTC (p.Phe683=) c.1679+6289_1679+6292delinsTCTC (n.1679+6289_1679+6292delinsTCTC) c.2144_2147delinsTCTC (p.Phe715=) c.2210_2213delinsTCTC (p.Phe737=) c.2207_2210delinsTCTC (p.Phe736=) c.2180_2183delinsTCTC (p.Phe727=) c.2099_2102delinsTCTC (p.Phe700=) c.2084_2087delinsTCTC (p.Phe695=) c.1691_1694delinsTCTC (p.Phe564=) c.2153_2156delinsTCTC (p.Phe718=) c.2087_2090delinsTCTC (p.Phe696=) c.2045_2048delinsTCTC (p.Phe682=) c.1118_1121delinsTCTC (p.Phe373=) | |
20 | g.63407159A>C | CA409638979 | KCNQ2 | c.2158T>G (p.Ser720Ala) c.2104T>G (p.Ser702Ala) c.1501T>G (p.Ser501Ala) c.2011T>G (p.Ser671Ala) c.1672T>G (p.Ser558Ala) c.2020T>G (p.Ser674Ala) c.2128T>G (p.Ser710Ala) c.2092T>G (p.Ser698Ala) c.2050T>G (p.Ser684Ala) c.1679+6291T>G (n.1679+6291T>G) c.2146T>G (p.Ser716Ala) c.2212T>G (p.Ser738Ala) c.2209T>G (p.Ser737Ala) c.2182T>G (p.Ser728Ala) c.2101T>G (p.Ser701Ala) c.2086T>G (p.Ser696Ala) c.1693T>G (p.Ser565Ala) c.2155T>G (p.Ser719Ala) c.2089T>G (p.Ser697Ala) c.2047T>G (p.Ser683Ala) c.1120T>G (p.Ser374Ala) | |
20 | g.63407159A>G | CA409638980 | KCNQ2 | c.2158T>C (p.Ser720Pro) c.2104T>C (p.Ser702Pro) c.1501T>C (p.Ser501Pro) c.2011T>C (p.Ser671Pro) c.1672T>C (p.Ser558Pro) c.2020T>C (p.Ser674Pro) c.2128T>C (p.Ser710Pro) c.2092T>C (p.Ser698Pro) c.2050T>C (p.Ser684Pro) c.1679+6291T>C (n.1679+6291T>C) c.2146T>C (p.Ser716Pro) c.2212T>C (p.Ser738Pro) c.2209T>C (p.Ser737Pro) c.2182T>C (p.Ser728Pro) c.2101T>C (p.Ser701Pro) c.2086T>C (p.Ser696Pro) c.1693T>C (p.Ser565Pro) c.2155T>C (p.Ser719Pro) c.2089T>C (p.Ser697Pro) c.2047T>C (p.Ser683Pro) c.1120T>C (p.Ser374Pro) | gnomAD v4 |
20 | g.63407159A>T | CA409638981 | KCNQ2 | c.2158T>A (p.Ser720Thr) c.2104T>A (p.Ser702Thr) c.1501T>A (p.Ser501Thr) c.2011T>A (p.Ser671Thr) c.1672T>A (p.Ser558Thr) c.2020T>A (p.Ser674Thr) c.2128T>A (p.Ser710Thr) c.2092T>A (p.Ser698Thr) c.2050T>A (p.Ser684Thr) c.1679+6291T>A (n.1679+6291T>A) c.2146T>A (p.Ser716Thr) c.2212T>A (p.Ser738Thr) c.2209T>A (p.Ser737Thr) c.2182T>A (p.Ser728Thr) c.2101T>A (p.Ser701Thr) c.2086T>A (p.Ser696Thr) c.1693T>A (p.Ser565Thr) c.2155T>A (p.Ser719Thr) c.2089T>A (p.Ser697Thr) c.2047T>A (p.Ser683Thr) c.1120T>A (p.Ser374Thr) | |
20 | g.63407161_63407163del | CA315553 | KCNQ2 | c.2156_2158del (p.Phe719del) c.2102_2104del (p.Phe701del) c.1499_1501del (p.Phe500del) c.2009_2011del (p.Phe670del) c.1670_1672del (p.Phe557del) c.2018_2020del (p.Phe673del) c.2126_2128del (p.Phe709del) c.2090_2092del (p.Phe697del) c.2048_2050del (p.Phe683del) c.1679+6289_1679+6291del (n.1679+6289_1679+6291del) c.2144_2146del (p.Phe715del) c.2210_2212del (p.Phe737del) c.2207_2209del (p.Phe736del) c.2180_2182del (p.Phe727del) c.2099_2101del (p.Phe700del) c.2084_2086del (p.Phe695del) c.1691_1693del (p.Phe564del) c.2153_2155del (p.Phe718del) c.2087_2089del (p.Phe696del) c.2045_2047del (p.Phe682del) c.1118_1120del (p.Phe373del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407160G>A | CA9958153 | KCNQ2 | c.2157C>T (p.Phe719=) c.2103C>T (p.Phe701=) c.1500C>T (p.Phe500=) c.2010C>T (p.Phe670=) c.1671C>T (p.Phe557=) c.2019C>T (p.Phe673=) c.2127C>T (p.Phe709=) c.2091C>T (p.Phe697=) c.2049C>T (p.Phe683=) c.1679+6290C>T (n.1679+6290C>T) c.2145C>T (p.Phe715=) c.2211C>T (p.Phe737=) c.2208C>T (p.Phe736=) c.2181C>T (p.Phe727=) c.2100C>T (p.Phe700=) c.2085C>T (p.Phe695=) c.1692C>T (p.Phe564=) c.2154C>T (p.Phe718=) c.2088C>T (p.Phe696=) c.2046C>T (p.Phe682=) c.1119C>T (p.Phe373=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407160G>C | CA409638983 | KCNQ2 | c.2157C>G (p.Phe719Leu) c.2103C>G (p.Phe701Leu) c.1500C>G (p.Phe500Leu) c.2010C>G (p.Phe670Leu) c.1671C>G (p.Phe557Leu) c.2019C>G (p.Phe673Leu) c.2127C>G (p.Phe709Leu) c.2091C>G (p.Phe697Leu) c.2049C>G (p.Phe683Leu) c.1679+6290C>G (n.1679+6290C>G) c.2145C>G (p.Phe715Leu) c.2211C>G (p.Phe737Leu) c.2208C>G (p.Phe736Leu) c.2181C>G (p.Phe727Leu) c.2100C>G (p.Phe700Leu) c.2085C>G (p.Phe695Leu) c.1692C>G (p.Phe564Leu) c.2154C>G (p.Phe718Leu) c.2088C>G (p.Phe696Leu) c.2046C>G (p.Phe682Leu) c.1119C>G (p.Phe373Leu) | ClinVar dbSNP gnomAD v4 |
20 | g.63407160G= | CA2374774458 | KCNQ2 | c.2157C= (p.Phe719=) c.2103C= (p.Phe701=) c.1500C= (p.Phe500=) c.2010C= (p.Phe670=) c.1671C= (p.Phe557=) c.2019C= (p.Phe673=) c.2127C= (p.Phe709=) c.2091C= (p.Phe697=) c.2049C= (p.Phe683=) c.1679+6290C= (n.1679+6290C=) c.2145C= (p.Phe715=) c.2211C= (p.Phe737=) c.2208C= (p.Phe736=) c.2181C= (p.Phe727=) c.2100C= (p.Phe700=) c.2085C= (p.Phe695=) c.1692C= (p.Phe564=) c.2154C= (p.Phe718=) c.2088C= (p.Phe696=) c.2046C= (p.Phe682=) c.1119C= (p.Phe373=) | |
20 | g.63407160G>T | CA409638982 | KCNQ2 | c.2157C>A (p.Phe719Leu) c.2103C>A (p.Phe701Leu) c.1500C>A (p.Phe500Leu) c.2010C>A (p.Phe670Leu) c.1671C>A (p.Phe557Leu) c.2019C>A (p.Phe673Leu) c.2127C>A (p.Phe709Leu) c.2091C>A (p.Phe697Leu) c.2049C>A (p.Phe683Leu) c.1679+6290C>A (n.1679+6290C>A) c.2145C>A (p.Phe715Leu) c.2211C>A (p.Phe737Leu) c.2208C>A (p.Phe736Leu) c.2181C>A (p.Phe727Leu) c.2100C>A (p.Phe700Leu) c.2085C>A (p.Phe695Leu) c.1692C>A (p.Phe564Leu) c.2154C>A (p.Phe718Leu) c.2088C>A (p.Phe696Leu) c.2046C>A (p.Phe682Leu) c.1119C>A (p.Phe373Leu) | gnomAD v4 |
20 | g.63407161A>C | CA409638984 | KCNQ2 | c.2156T>G (p.Phe719Cys) c.2102T>G (p.Phe701Cys) c.1499T>G (p.Phe500Cys) c.2009T>G (p.Phe670Cys) c.1670T>G (p.Phe557Cys) c.2018T>G (p.Phe673Cys) c.2126T>G (p.Phe709Cys) c.2090T>G (p.Phe697Cys) c.2048T>G (p.Phe683Cys) c.1679+6289T>G (n.1679+6289T>G) c.2144T>G (p.Phe715Cys) c.2210T>G (p.Phe737Cys) c.2207T>G (p.Phe736Cys) c.2180T>G (p.Phe727Cys) c.2099T>G (p.Phe700Cys) c.2084T>G (p.Phe695Cys) c.1691T>G (p.Phe564Cys) c.2153T>G (p.Phe718Cys) c.2087T>G (p.Phe696Cys) c.2045T>G (p.Phe682Cys) c.1118T>G (p.Phe373Cys) | |
20 | g.63407161A>G | CA409638985 | KCNQ2 | c.2156T>C (p.Phe719Ser) c.2102T>C (p.Phe701Ser) c.1499T>C (p.Phe500Ser) c.2009T>C (p.Phe670Ser) c.1670T>C (p.Phe557Ser) c.2018T>C (p.Phe673Ser) c.2126T>C (p.Phe709Ser) c.2090T>C (p.Phe697Ser) c.2048T>C (p.Phe683Ser) c.1679+6289T>C (n.1679+6289T>C) c.2144T>C (p.Phe715Ser) c.2210T>C (p.Phe737Ser) c.2207T>C (p.Phe736Ser) c.2180T>C (p.Phe727Ser) c.2099T>C (p.Phe700Ser) c.2084T>C (p.Phe695Ser) c.1691T>C (p.Phe564Ser) c.2153T>C (p.Phe718Ser) c.2087T>C (p.Phe696Ser) c.2045T>C (p.Phe682Ser) c.1118T>C (p.Phe373Ser) | gnomAD v4 |
20 | g.63407161A>T | CA409638986 | KCNQ2 | c.2156T>A (p.Phe719Tyr) c.2102T>A (p.Phe701Tyr) c.1499T>A (p.Phe500Tyr) c.2009T>A (p.Phe670Tyr) c.1670T>A (p.Phe557Tyr) c.2018T>A (p.Phe673Tyr) c.2126T>A (p.Phe709Tyr) c.2090T>A (p.Phe697Tyr) c.2048T>A (p.Phe683Tyr) c.1679+6289T>A (n.1679+6289T>A) c.2144T>A (p.Phe715Tyr) c.2210T>A (p.Phe737Tyr) c.2207T>A (p.Phe736Tyr) c.2180T>A (p.Phe727Tyr) c.2099T>A (p.Phe700Tyr) c.2084T>A (p.Phe695Tyr) c.1691T>A (p.Phe564Tyr) c.2153T>A (p.Phe718Tyr) c.2087T>A (p.Phe696Tyr) c.2045T>A (p.Phe682Tyr) c.1118T>A (p.Phe373Tyr) | |
20 | g.63407162A>C | CA409638987 | KCNQ2 | c.2155T>G (p.Phe719Val) c.2101T>G (p.Phe701Val) c.1498T>G (p.Phe500Val) c.2008T>G (p.Phe670Val) c.1669T>G (p.Phe557Val) c.2017T>G (p.Phe673Val) c.2125T>G (p.Phe709Val) c.2089T>G (p.Phe697Val) c.2047T>G (p.Phe683Val) c.1679+6288T>G (n.1679+6288T>G) c.2143T>G (p.Phe715Val) c.2209T>G (p.Phe737Val) c.2206T>G (p.Phe736Val) c.2179T>G (p.Phe727Val) c.2098T>G (p.Phe700Val) c.2083T>G (p.Phe695Val) c.1690T>G (p.Phe564Val) c.2152T>G (p.Phe718Val) c.2086T>G (p.Phe696Val) c.2044T>G (p.Phe682Val) c.1117T>G (p.Phe373Val) | |
20 | g.63407162A>G | CA409638988 | KCNQ2 | c.2155T>C (p.Phe719Leu) c.2101T>C (p.Phe701Leu) c.1498T>C (p.Phe500Leu) c.2008T>C (p.Phe670Leu) c.1669T>C (p.Phe557Leu) c.2017T>C (p.Phe673Leu) c.2125T>C (p.Phe709Leu) c.2089T>C (p.Phe697Leu) c.2047T>C (p.Phe683Leu) c.1679+6288T>C (n.1679+6288T>C) c.2143T>C (p.Phe715Leu) c.2209T>C (p.Phe737Leu) c.2206T>C (p.Phe736Leu) c.2179T>C (p.Phe727Leu) c.2098T>C (p.Phe700Leu) c.2083T>C (p.Phe695Leu) c.1690T>C (p.Phe564Leu) c.2152T>C (p.Phe718Leu) c.2086T>C (p.Phe696Leu) c.2044T>C (p.Phe682Leu) c.1117T>C (p.Phe373Leu) | gnomAD v4 |
20 | g.63407162A>T | CA409638989 | KCNQ2 | c.2155T>A (p.Phe719Ile) c.2101T>A (p.Phe701Ile) c.1498T>A (p.Phe500Ile) c.2008T>A (p.Phe670Ile) c.1669T>A (p.Phe557Ile) c.2017T>A (p.Phe673Ile) c.2125T>A (p.Phe709Ile) c.2089T>A (p.Phe697Ile) c.2047T>A (p.Phe683Ile) c.1679+6288T>A (n.1679+6288T>A) c.2143T>A (p.Phe715Ile) c.2209T>A (p.Phe737Ile) c.2206T>A (p.Phe736Ile) c.2179T>A (p.Phe727Ile) c.2098T>A (p.Phe700Ile) c.2083T>A (p.Phe695Ile) c.1690T>A (p.Phe564Ile) c.2152T>A (p.Phe718Ile) c.2086T>A (p.Phe696Ile) c.2044T>A (p.Phe682Ile) c.1117T>A (p.Phe373Ile) | |
20 | g.63407163G>A | CA317422307 | KCNQ2 | c.2154C>T (p.Asn718=) c.2100C>T (p.Asn700=) c.1497C>T (p.Asn499=) c.2007C>T (p.Asn669=) c.1668C>T (p.Asn556=) c.2016C>T (p.Asn672=) c.2124C>T (p.Asn708=) c.2088C>T (p.Asn696=) c.2046C>T (p.Asn682=) c.1679+6287C>T (n.1679+6287C>T) c.2142C>T (p.Asn714=) c.2208C>T (p.Asn736=) c.2205C>T (p.Asn735=) c.2178C>T (p.Asn726=) c.2097C>T (p.Asn699=) c.2082C>T (p.Asn694=) c.1689C>T (p.Asn563=) c.2151C>T (p.Asn717=) c.2085C>T (p.Asn695=) c.2043C>T (p.Asn681=) c.1116C>T (p.Asn372=) | ClinVar dbSNP |
20 | g.63407163G>C | CA409638990 | KCNQ2 | c.2154C>G (p.Asn718Lys) c.2100C>G (p.Asn700Lys) c.1497C>G (p.Asn499Lys) c.2007C>G (p.Asn669Lys) c.1668C>G (p.Asn556Lys) c.2016C>G (p.Asn672Lys) c.2124C>G (p.Asn708Lys) c.2088C>G (p.Asn696Lys) c.2046C>G (p.Asn682Lys) c.1679+6287C>G (n.1679+6287C>G) c.2142C>G (p.Asn714Lys) c.2208C>G (p.Asn736Lys) c.2205C>G (p.Asn735Lys) c.2178C>G (p.Asn726Lys) c.2097C>G (p.Asn699Lys) c.2082C>G (p.Asn694Lys) c.1689C>G (p.Asn563Lys) c.2151C>G (p.Asn717Lys) c.2085C>G (p.Asn695Lys) c.2043C>G (p.Asn681Lys) c.1116C>G (p.Asn372Lys) | |
20 | g.63407163G= | CA2374774460 | KCNQ2 | c.2154C= (p.Asn718=) c.2100C= (p.Asn700=) c.1497C= (p.Asn499=) c.2007C= (p.Asn669=) c.1668C= (p.Asn556=) c.2016C= (p.Asn672=) c.2124C= (p.Asn708=) c.2088C= (p.Asn696=) c.2046C= (p.Asn682=) c.1679+6287C= (n.1679+6287C=) c.2142C= (p.Asn714=) c.2208C= (p.Asn736=) c.2205C= (p.Asn735=) c.2178C= (p.Asn726=) c.2097C= (p.Asn699=) c.2082C= (p.Asn694=) c.1689C= (p.Asn563=) c.2151C= (p.Asn717=) c.2085C= (p.Asn695=) c.2043C= (p.Asn681=) c.1116C= (p.Asn372=) | |
20 | g.63407163G>T | CA409638991 | KCNQ2 | c.2154C>A (p.Asn718Lys) c.2100C>A (p.Asn700Lys) c.1497C>A (p.Asn499Lys) c.2007C>A (p.Asn669Lys) c.1668C>A (p.Asn556Lys) c.2016C>A (p.Asn672Lys) c.2124C>A (p.Asn708Lys) c.2088C>A (p.Asn696Lys) c.2046C>A (p.Asn682Lys) c.1679+6287C>A (n.1679+6287C>A) c.2142C>A (p.Asn714Lys) c.2208C>A (p.Asn736Lys) c.2205C>A (p.Asn735Lys) c.2178C>A (p.Asn726Lys) c.2097C>A (p.Asn699Lys) c.2082C>A (p.Asn694Lys) c.1689C>A (p.Asn563Lys) c.2151C>A (p.Asn717Lys) c.2085C>A (p.Asn695Lys) c.2043C>A (p.Asn681Lys) c.1116C>A (p.Asn372Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407163_63407166delinsGTTC | CA2374774459 | KCNQ2 | c.2151_2154delinsGAAC (p.Lys717=) c.2097_2100delinsGAAC (p.Lys699=) c.1494_1497delinsGAAC (p.Lys498=) c.2004_2007delinsGAAC (p.Lys668=) c.1665_1668delinsGAAC (p.Lys555=) c.2013_2016delinsGAAC (p.Lys671=) c.2121_2124delinsGAAC (p.Lys707=) c.2085_2088delinsGAAC (p.Lys695=) c.2043_2046delinsGAAC (p.Lys681=) c.1679+6284_1679+6287delinsGAAC (n.1679+6284_1679+6287delinsGAAC) c.2139_2142delinsGAAC (p.Lys713=) c.2205_2208delinsGAAC (p.Lys735=) c.2202_2205delinsGAAC (p.Lys734=) c.2175_2178delinsGAAC (p.Lys725=) c.2094_2097delinsGAAC (p.Lys698=) c.2079_2082delinsGAAC (p.Lys693=) c.1686_1689delinsGAAC (p.Lys562=) c.2148_2151delinsGAAC (p.Lys716=) c.2082_2085delinsGAAC (p.Lys694=) c.2040_2043delinsGAAC (p.Lys680=) c.1113_1116delinsGAAC (p.Lys371=) | |
20 | g.63407164T>A | CA409638993 | KCNQ2 | c.2153A>T (p.Asn718Ile) c.2099A>T (p.Asn700Ile) c.1496A>T (p.Asn499Ile) c.2006A>T (p.Asn669Ile) c.1667A>T (p.Asn556Ile) c.2015A>T (p.Asn672Ile) c.2123A>T (p.Asn708Ile) c.2087A>T (p.Asn696Ile) c.2045A>T (p.Asn682Ile) c.1679+6286A>T (n.1679+6286A>T) c.2141A>T (p.Asn714Ile) c.2207A>T (p.Asn736Ile) c.2204A>T (p.Asn735Ile) c.2177A>T (p.Asn726Ile) c.2096A>T (p.Asn699Ile) c.2081A>T (p.Asn694Ile) c.1688A>T (p.Asn563Ile) c.2150A>T (p.Asn717Ile) c.2084A>T (p.Asn695Ile) c.2042A>T (p.Asn681Ile) c.1115A>T (p.Asn372Ile) | |
20 | g.63407164T>C | CA409638992 | KCNQ2 | c.2153A>G (p.Asn718Ser) c.2099A>G (p.Asn700Ser) c.1496A>G (p.Asn499Ser) c.2006A>G (p.Asn669Ser) c.1667A>G (p.Asn556Ser) c.2015A>G (p.Asn672Ser) c.2123A>G (p.Asn708Ser) c.2087A>G (p.Asn696Ser) c.2045A>G (p.Asn682Ser) c.1679+6286A>G (n.1679+6286A>G) c.2141A>G (p.Asn714Ser) c.2207A>G (p.Asn736Ser) c.2204A>G (p.Asn735Ser) c.2177A>G (p.Asn726Ser) c.2096A>G (p.Asn699Ser) c.2081A>G (p.Asn694Ser) c.1688A>G (p.Asn563Ser) c.2150A>G (p.Asn717Ser) c.2084A>G (p.Asn695Ser) c.2042A>G (p.Asn681Ser) c.1115A>G (p.Asn372Ser) | gnomAD v4 |
20 | g.63407164T>G | CA409638994 | KCNQ2 | c.2153A>C (p.Asn718Thr) c.2099A>C (p.Asn700Thr) c.1496A>C (p.Asn499Thr) c.2006A>C (p.Asn669Thr) c.1667A>C (p.Asn556Thr) c.2015A>C (p.Asn672Thr) c.2123A>C (p.Asn708Thr) c.2087A>C (p.Asn696Thr) c.2045A>C (p.Asn682Thr) c.1679+6286A>C (n.1679+6286A>C) c.2141A>C (p.Asn714Thr) c.2207A>C (p.Asn736Thr) c.2204A>C (p.Asn735Thr) c.2177A>C (p.Asn726Thr) c.2096A>C (p.Asn699Thr) c.2081A>C (p.Asn694Thr) c.1688A>C (p.Asn563Thr) c.2150A>C (p.Asn717Thr) c.2084A>C (p.Asn695Thr) c.2042A>C (p.Asn681Thr) c.1115A>C (p.Asn372Thr) | |
20 | g.63407168_63407170del | CA9958154 | KCNQ2 | c.2151_2153del (p.Lys717del) c.2097_2099del (p.Lys699del) c.1494_1496del (p.Lys498del) c.2004_2006del (p.Lys668del) c.1665_1667del (p.Lys555del) c.2013_2015del (p.Lys671del) c.2121_2123del (p.Lys707del) c.2085_2087del (p.Lys695del) c.2043_2045del (p.Lys681del) c.1679+6284_1679+6286del (n.1679+6284_1679+6286del) c.2139_2141del (p.Lys713del) c.2205_2207del (p.Lys735del) c.2202_2204del (p.Lys734del) c.2175_2177del (p.Lys725del) c.2094_2096del (p.Lys698del) c.2079_2081del (p.Lys693del) c.1686_1688del (p.Lys562del) c.2148_2150del (p.Lys716del) c.2082_2084del (p.Lys694del) c.2040_2042del (p.Lys680del) c.1113_1115del (p.Lys371del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407165T>A | CA409638995 | KCNQ2 | c.2152A>T (p.Asn718Tyr) c.2098A>T (p.Asn700Tyr) c.1495A>T (p.Asn499Tyr) c.2005A>T (p.Asn669Tyr) c.1666A>T (p.Asn556Tyr) c.2014A>T (p.Asn672Tyr) c.2122A>T (p.Asn708Tyr) c.2086A>T (p.Asn696Tyr) c.2044A>T (p.Asn682Tyr) c.1679+6285A>T (n.1679+6285A>T) c.2140A>T (p.Asn714Tyr) c.2206A>T (p.Asn736Tyr) c.2203A>T (p.Asn735Tyr) c.2176A>T (p.Asn726Tyr) c.2095A>T (p.Asn699Tyr) c.2080A>T (p.Asn694Tyr) c.1687A>T (p.Asn563Tyr) c.2149A>T (p.Asn717Tyr) c.2083A>T (p.Asn695Tyr) c.2041A>T (p.Asn681Tyr) c.1114A>T (p.Asn372Tyr) | |
20 | g.63407165T>C | CA409638996 | KCNQ2 | c.2152A>G (p.Asn718Asp) c.2098A>G (p.Asn700Asp) c.1495A>G (p.Asn499Asp) c.2005A>G (p.Asn669Asp) c.1666A>G (p.Asn556Asp) c.2014A>G (p.Asn672Asp) c.2122A>G (p.Asn708Asp) c.2086A>G (p.Asn696Asp) c.2044A>G (p.Asn682Asp) c.1679+6285A>G (n.1679+6285A>G) c.2140A>G (p.Asn714Asp) c.2206A>G (p.Asn736Asp) c.2203A>G (p.Asn735Asp) c.2176A>G (p.Asn726Asp) c.2095A>G (p.Asn699Asp) c.2080A>G (p.Asn694Asp) c.1687A>G (p.Asn563Asp) c.2149A>G (p.Asn717Asp) c.2083A>G (p.Asn695Asp) c.2041A>G (p.Asn681Asp) c.1114A>G (p.Asn372Asp) | gnomAD v4 |
20 | g.63407165T>G | CA409638997 | KCNQ2 | c.2152A>C (p.Asn718His) c.2098A>C (p.Asn700His) c.1495A>C (p.Asn499His) c.2005A>C (p.Asn669His) c.1666A>C (p.Asn556His) c.2014A>C (p.Asn672His) c.2122A>C (p.Asn708His) c.2086A>C (p.Asn696His) c.2044A>C (p.Asn682His) c.1679+6285A>C (n.1679+6285A>C) c.2140A>C (p.Asn714His) c.2206A>C (p.Asn736His) c.2203A>C (p.Asn735His) c.2176A>C (p.Asn726His) c.2095A>C (p.Asn699His) c.2080A>C (p.Asn694His) c.1687A>C (p.Asn563His) c.2149A>C (p.Asn717His) c.2083A>C (p.Asn695His) c.2041A>C (p.Asn681His) c.1114A>C (p.Asn372His) | |
20 | g.63407166C>A | CA409638998 | KCNQ2 | c.2151G>T (p.Lys717Asn) c.2097G>T (p.Lys699Asn) c.1494G>T (p.Lys498Asn) c.2004G>T (p.Lys668Asn) c.1665G>T (p.Lys555Asn) c.2013G>T (p.Lys671Asn) c.2121G>T (p.Lys707Asn) c.2085G>T (p.Lys695Asn) c.2043G>T (p.Lys681Asn) c.1679+6284G>T (n.1679+6284G>T) c.2139G>T (p.Lys713Asn) c.2205G>T (p.Lys735Asn) c.2202G>T (p.Lys734Asn) c.2175G>T (p.Lys725Asn) c.2094G>T (p.Lys698Asn) c.2079G>T (p.Lys693Asn) c.1686G>T (p.Lys562Asn) c.2148G>T (p.Lys716Asn) c.2082G>T (p.Lys694Asn) c.2040G>T (p.Lys680Asn) c.1113G>T (p.Lys371Asn) | gnomAD v4 COSMIC |
20 | g.63407166C>G | CA409638999 | KCNQ2 | c.2151G>C (p.Lys717Asn) c.2097G>C (p.Lys699Asn) c.1494G>C (p.Lys498Asn) c.2004G>C (p.Lys668Asn) c.1665G>C (p.Lys555Asn) c.2013G>C (p.Lys671Asn) c.2121G>C (p.Lys707Asn) c.2085G>C (p.Lys695Asn) c.2043G>C (p.Lys681Asn) c.1679+6284G>C (n.1679+6284G>C) c.2139G>C (p.Lys713Asn) c.2205G>C (p.Lys735Asn) c.2202G>C (p.Lys734Asn) c.2175G>C (p.Lys725Asn) c.2094G>C (p.Lys698Asn) c.2079G>C (p.Lys693Asn) c.1686G>C (p.Lys562Asn) c.2148G>C (p.Lys716Asn) c.2082G>C (p.Lys694Asn) c.2040G>C (p.Lys680Asn) c.1113G>C (p.Lys371Asn) | |
20 | g.63407166C>T | CA511339334 | KCNQ2 | c.2151G>A (p.Lys717=) c.2097G>A (p.Lys699=) c.1494G>A (p.Lys498=) c.2004G>A (p.Lys668=) c.1665G>A (p.Lys555=) c.2013G>A (p.Lys671=) c.2121G>A (p.Lys707=) c.2085G>A (p.Lys695=) c.2043G>A (p.Lys681=) c.1679+6284G>A (n.1679+6284G>A) c.2139G>A (p.Lys713=) c.2205G>A (p.Lys735=) c.2202G>A (p.Lys734=) c.2175G>A (p.Lys725=) c.2094G>A (p.Lys698=) c.2079G>A (p.Lys693=) c.1686G>A (p.Lys562=) c.2148G>A (p.Lys716=) c.2082G>A (p.Lys694=) c.2040G>A (p.Lys680=) c.1113G>A (p.Lys371=) | COSMIC COSMIC COSMIC |
20 | g.63407167T>A | CA409639002 | KCNQ2 | c.2150A>T (p.Lys717Met) c.2096A>T (p.Lys699Met) c.1493A>T (p.Lys498Met) c.2003A>T (p.Lys668Met) c.1664A>T (p.Lys555Met) c.2012A>T (p.Lys671Met) c.2120A>T (p.Lys707Met) c.2084A>T (p.Lys695Met) c.2042A>T (p.Lys681Met) c.1679+6283A>T (n.1679+6283A>T) c.2138A>T (p.Lys713Met) c.2204A>T (p.Lys735Met) c.2201A>T (p.Lys734Met) c.2174A>T (p.Lys725Met) c.2093A>T (p.Lys698Met) c.2078A>T (p.Lys693Met) c.1685A>T (p.Lys562Met) c.2147A>T (p.Lys716Met) c.2081A>T (p.Lys694Met) c.2039A>T (p.Lys680Met) c.1112A>T (p.Lys371Met) | |
20 | g.63407167T>C | CA409639001 | KCNQ2 | c.2150A>G (p.Lys717Arg) c.2096A>G (p.Lys699Arg) c.1493A>G (p.Lys498Arg) c.2003A>G (p.Lys668Arg) c.1664A>G (p.Lys555Arg) c.2012A>G (p.Lys671Arg) c.2120A>G (p.Lys707Arg) c.2084A>G (p.Lys695Arg) c.2042A>G (p.Lys681Arg) c.1679+6283A>G (n.1679+6283A>G) c.2138A>G (p.Lys713Arg) c.2204A>G (p.Lys735Arg) c.2201A>G (p.Lys734Arg) c.2174A>G (p.Lys725Arg) c.2093A>G (p.Lys698Arg) c.2078A>G (p.Lys693Arg) c.1685A>G (p.Lys562Arg) c.2147A>G (p.Lys716Arg) c.2081A>G (p.Lys694Arg) c.2039A>G (p.Lys680Arg) c.1112A>G (p.Lys371Arg) | gnomAD v4 |
20 | g.63407167T>G | CA409639000 | KCNQ2 | c.2150A>C (p.Lys717Thr) c.2096A>C (p.Lys699Thr) c.1493A>C (p.Lys498Thr) c.2003A>C (p.Lys668Thr) c.1664A>C (p.Lys555Thr) c.2012A>C (p.Lys671Thr) c.2120A>C (p.Lys707Thr) c.2084A>C (p.Lys695Thr) c.2042A>C (p.Lys681Thr) c.1679+6283A>C (n.1679+6283A>C) c.2138A>C (p.Lys713Thr) c.2204A>C (p.Lys735Thr) c.2201A>C (p.Lys734Thr) c.2174A>C (p.Lys725Thr) c.2093A>C (p.Lys698Thr) c.2078A>C (p.Lys693Thr) c.1685A>C (p.Lys562Thr) c.2147A>C (p.Lys716Thr) c.2081A>C (p.Lys694Thr) c.2039A>C (p.Lys680Thr) c.1112A>C (p.Lys371Thr) | |
20 | g.63407168T>A | CA409639003 | KCNQ2 | c.2149A>T (p.Lys717Ter) c.2095A>T (p.Lys699Ter) c.1492A>T (p.Lys498Ter) c.2002A>T (p.Lys668Ter) c.1663A>T (p.Lys555Ter) c.2011A>T (p.Lys671Ter) c.2119A>T (p.Lys707Ter) c.2083A>T (p.Lys695Ter) c.2041A>T (p.Lys681Ter) c.1679+6282A>T (n.1679+6282A>T) c.2137A>T (p.Lys713Ter) c.2203A>T (p.Lys735Ter) c.2200A>T (p.Lys734Ter) c.2173A>T (p.Lys725Ter) c.2092A>T (p.Lys698Ter) c.2077A>T (p.Lys693Ter) c.1684A>T (p.Lys562Ter) c.2146A>T (p.Lys716Ter) c.2080A>T (p.Lys694Ter) c.2038A>T (p.Lys680Ter) c.1111A>T (p.Lys371Ter) | |
20 | g.63407168T>C | CA409639004 | KCNQ2 | c.2149A>G (p.Lys717Glu) c.2095A>G (p.Lys699Glu) c.1492A>G (p.Lys498Glu) c.2002A>G (p.Lys668Glu) c.1663A>G (p.Lys555Glu) c.2011A>G (p.Lys671Glu) c.2119A>G (p.Lys707Glu) c.2083A>G (p.Lys695Glu) c.2041A>G (p.Lys681Glu) c.1679+6282A>G (n.1679+6282A>G) c.2137A>G (p.Lys713Glu) c.2203A>G (p.Lys735Glu) c.2200A>G (p.Lys734Glu) c.2173A>G (p.Lys725Glu) c.2092A>G (p.Lys698Glu) c.2077A>G (p.Lys693Glu) c.1684A>G (p.Lys562Glu) c.2146A>G (p.Lys716Glu) c.2080A>G (p.Lys694Glu) c.2038A>G (p.Lys680Glu) c.1111A>G (p.Lys371Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407168T>G | CA409639005 | KCNQ2 | c.2149A>C (p.Lys717Gln) c.2095A>C (p.Lys699Gln) c.1492A>C (p.Lys498Gln) c.2002A>C (p.Lys668Gln) c.1663A>C (p.Lys555Gln) c.2011A>C (p.Lys671Gln) c.2119A>C (p.Lys707Gln) c.2083A>C (p.Lys695Gln) c.2041A>C (p.Lys681Gln) c.1679+6282A>C (n.1679+6282A>C) c.2137A>C (p.Lys713Gln) c.2203A>C (p.Lys735Gln) c.2200A>C (p.Lys734Gln) c.2173A>C (p.Lys725Gln) c.2092A>C (p.Lys698Gln) c.2077A>C (p.Lys693Gln) c.1684A>C (p.Lys562Gln) c.2146A>C (p.Lys716Gln) c.2080A>C (p.Lys694Gln) c.2038A>C (p.Lys680Gln) c.1111A>C (p.Lys371Gln) | |
20 | g.63407168T= | CA2374774461 | KCNQ2 | c.2149A= (p.Lys717=) c.2095A= (p.Lys699=) c.1492A= (p.Lys498=) c.2002A= (p.Lys668=) c.1663A= (p.Lys555=) c.2011A= (p.Lys671=) c.2119A= (p.Lys707=) c.2083A= (p.Lys695=) c.2041A= (p.Lys681=) c.1679+6282A= (n.1679+6282A=) c.2137A= (p.Lys713=) c.2203A= (p.Lys735=) c.2200A= (p.Lys734=) c.2173A= (p.Lys725=) c.2092A= (p.Lys698=) c.2077A= (p.Lys693=) c.1684A= (p.Lys562=) c.2146A= (p.Lys716=) c.2080A= (p.Lys694=) c.2038A= (p.Lys680=) c.1111A= (p.Lys371=) | |
20 | g.63407169C>A | CA409639006 | KCNQ2 | c.2148G>T (p.Gln716His) c.2094G>T (p.Gln698His) c.1491G>T (p.Gln497His) c.2001G>T (p.Gln667His) c.1662G>T (p.Gln554His) c.2010G>T (p.Gln670His) c.2118G>T (p.Gln706His) c.2082G>T (p.Gln694His) c.2040G>T (p.Gln680His) c.1679+6281G>T (n.1679+6281G>T) c.2136G>T (p.Gln712His) c.2202G>T (p.Gln734His) c.2199G>T (p.Gln733His) c.2172G>T (p.Gln724His) c.2091G>T (p.Gln697His) c.2076G>T (p.Gln692His) c.1683G>T (p.Gln561His) c.2145G>T (p.Gln715His) c.2079G>T (p.Gln693His) c.2037G>T (p.Gln679His) c.1110G>T (p.Gln370His) | gnomAD v4 |
20 | g.63407169C>G | CA409639007 | KCNQ2 | c.2148G>C (p.Gln716His) c.2094G>C (p.Gln698His) c.1491G>C (p.Gln497His) c.2001G>C (p.Gln667His) c.1662G>C (p.Gln554His) c.2010G>C (p.Gln670His) c.2118G>C (p.Gln706His) c.2082G>C (p.Gln694His) c.2040G>C (p.Gln680His) c.1679+6281G>C (n.1679+6281G>C) c.2136G>C (p.Gln712His) c.2202G>C (p.Gln734His) c.2199G>C (p.Gln733His) c.2172G>C (p.Gln724His) c.2091G>C (p.Gln697His) c.2076G>C (p.Gln692His) c.1683G>C (p.Gln561His) c.2145G>C (p.Gln715His) c.2079G>C (p.Gln693His) c.2037G>C (p.Gln679His) c.1110G>C (p.Gln370His) | |
20 | g.63407169C>T | CA511339338 | KCNQ2 | c.2148G>A (p.Gln716=) c.2094G>A (p.Gln698=) c.1491G>A (p.Gln497=) c.2001G>A (p.Gln667=) c.1662G>A (p.Gln554=) c.2010G>A (p.Gln670=) c.2118G>A (p.Gln706=) c.2082G>A (p.Gln694=) c.2040G>A (p.Gln680=) c.1679+6281G>A (n.1679+6281G>A) c.2136G>A (p.Gln712=) c.2202G>A (p.Gln734=) c.2199G>A (p.Gln733=) c.2172G>A (p.Gln724=) c.2091G>A (p.Gln697=) c.2076G>A (p.Gln692=) c.1683G>A (p.Gln561=) c.2145G>A (p.Gln715=) c.2079G>A (p.Gln693=) c.2037G>A (p.Gln679=) c.1110G>A (p.Gln370=) | |
20 | g.63407170T>A | CA409639008 | KCNQ2 | c.2147A>T (p.Gln716Leu) c.2093A>T (p.Gln698Leu) c.1490A>T (p.Gln497Leu) c.2000A>T (p.Gln667Leu) c.1661A>T (p.Gln554Leu) c.2009A>T (p.Gln670Leu) c.2117A>T (p.Gln706Leu) c.2081A>T (p.Gln694Leu) c.2039A>T (p.Gln680Leu) c.1679+6280A>T (n.1679+6280A>T) c.2135A>T (p.Gln712Leu) c.2201A>T (p.Gln734Leu) c.2198A>T (p.Gln733Leu) c.2171A>T (p.Gln724Leu) c.2090A>T (p.Gln697Leu) c.2075A>T (p.Gln692Leu) c.1682A>T (p.Gln561Leu) c.2144A>T (p.Gln715Leu) c.2078A>T (p.Gln693Leu) c.2036A>T (p.Gln679Leu) c.1109A>T (p.Gln370Leu) | gnomAD v4 |
20 | g.63407170T>C | CA409639009 | KCNQ2 | c.2147A>G (p.Gln716Arg) c.2093A>G (p.Gln698Arg) c.1490A>G (p.Gln497Arg) c.2000A>G (p.Gln667Arg) c.1661A>G (p.Gln554Arg) c.2009A>G (p.Gln670Arg) c.2117A>G (p.Gln706Arg) c.2081A>G (p.Gln694Arg) c.2039A>G (p.Gln680Arg) c.1679+6280A>G (n.1679+6280A>G) c.2135A>G (p.Gln712Arg) c.2201A>G (p.Gln734Arg) c.2198A>G (p.Gln733Arg) c.2171A>G (p.Gln724Arg) c.2090A>G (p.Gln697Arg) c.2075A>G (p.Gln692Arg) c.1682A>G (p.Gln561Arg) c.2144A>G (p.Gln715Arg) c.2078A>G (p.Gln693Arg) c.2036A>G (p.Gln679Arg) c.1109A>G (p.Gln370Arg) | gnomAD v4 |
20 | g.63407170T>G | CA409639010 | KCNQ2 | c.2147A>C (p.Gln716Pro) c.2093A>C (p.Gln698Pro) c.1490A>C (p.Gln497Pro) c.2000A>C (p.Gln667Pro) c.1661A>C (p.Gln554Pro) c.2009A>C (p.Gln670Pro) c.2117A>C (p.Gln706Pro) c.2081A>C (p.Gln694Pro) c.2039A>C (p.Gln680Pro) c.1679+6280A>C (n.1679+6280A>C) c.2135A>C (p.Gln712Pro) c.2201A>C (p.Gln734Pro) c.2198A>C (p.Gln733Pro) c.2171A>C (p.Gln724Pro) c.2090A>C (p.Gln697Pro) c.2075A>C (p.Gln692Pro) c.1682A>C (p.Gln561Pro) c.2144A>C (p.Gln715Pro) c.2078A>C (p.Gln693Pro) c.2036A>C (p.Gln679Pro) c.1109A>C (p.Gln370Pro) | |
20 | g.63407171G>A | CA409639011 | KCNQ2 | c.2146C>T (p.Gln716Ter) c.2092C>T (p.Gln698Ter) c.1489C>T (p.Gln497Ter) c.1999C>T (p.Gln667Ter) c.1660C>T (p.Gln554Ter) c.2008C>T (p.Gln670Ter) c.2116C>T (p.Gln706Ter) c.2080C>T (p.Gln694Ter) c.2038C>T (p.Gln680Ter) c.1679+6279C>T (n.1679+6279C>T) c.2134C>T (p.Gln712Ter) c.2200C>T (p.Gln734Ter) c.2197C>T (p.Gln733Ter) c.2170C>T (p.Gln724Ter) c.2089C>T (p.Gln697Ter) c.2074C>T (p.Gln692Ter) c.1681C>T (p.Gln561Ter) c.2143C>T (p.Gln715Ter) c.2077C>T (p.Gln693Ter) c.2035C>T (p.Gln679Ter) c.1108C>T (p.Gln370Ter) | ClinVar dbSNP gnomAD v4 |
20 | g.63407171G>C | CA409639013 | KCNQ2 | c.2146C>G (p.Gln716Glu) c.2092C>G (p.Gln698Glu) c.1489C>G (p.Gln497Glu) c.1999C>G (p.Gln667Glu) c.1660C>G (p.Gln554Glu) c.2008C>G (p.Gln670Glu) c.2116C>G (p.Gln706Glu) c.2080C>G (p.Gln694Glu) c.2038C>G (p.Gln680Glu) c.1679+6279C>G (n.1679+6279C>G) c.2134C>G (p.Gln712Glu) c.2200C>G (p.Gln734Glu) c.2197C>G (p.Gln733Glu) c.2170C>G (p.Gln724Glu) c.2089C>G (p.Gln697Glu) c.2074C>G (p.Gln692Glu) c.1681C>G (p.Gln561Glu) c.2143C>G (p.Gln715Glu) c.2077C>G (p.Gln693Glu) c.2035C>G (p.Gln679Glu) c.1108C>G (p.Gln370Glu) | |
20 | g.63407171G= | CA2374774462 | KCNQ2 | c.2146C= (p.Gln716=) c.2092C= (p.Gln698=) c.1489C= (p.Gln497=) c.1999C= (p.Gln667=) c.1660C= (p.Gln554=) c.2008C= (p.Gln670=) c.2116C= (p.Gln706=) c.2080C= (p.Gln694=) c.2038C= (p.Gln680=) c.1679+6279C= (n.1679+6279C=) c.2134C= (p.Gln712=) c.2200C= (p.Gln734=) c.2197C= (p.Gln733=) c.2170C= (p.Gln724=) c.2089C= (p.Gln697=) c.2074C= (p.Gln692=) c.1681C= (p.Gln561=) c.2143C= (p.Gln715=) c.2077C= (p.Gln693=) c.2035C= (p.Gln679=) c.1108C= (p.Gln370=) | |
20 | g.63407171G>T | CA409639012 | KCNQ2 | c.2146C>A (p.Gln716Lys) c.2092C>A (p.Gln698Lys) c.1489C>A (p.Gln497Lys) c.1999C>A (p.Gln667Lys) c.1660C>A (p.Gln554Lys) c.2008C>A (p.Gln670Lys) c.2116C>A (p.Gln706Lys) c.2080C>A (p.Gln694Lys) c.2038C>A (p.Gln680Lys) c.1679+6279C>A (n.1679+6279C>A) c.2134C>A (p.Gln712Lys) c.2200C>A (p.Gln734Lys) c.2197C>A (p.Gln733Lys) c.2170C>A (p.Gln724Lys) c.2089C>A (p.Gln697Lys) c.2074C>A (p.Gln692Lys) c.1681C>A (p.Gln561Lys) c.2143C>A (p.Gln715Lys) c.2077C>A (p.Gln693Lys) c.2035C>A (p.Gln679Lys) c.1108C>A (p.Gln370Lys) | gnomAD v4 |
20 | g.63407172G>A | CA511339342 | KCNQ2 | c.2145C>T (p.Gly715=) c.2091C>T (p.Gly697=) c.1488C>T (p.Gly496=) c.1998C>T (p.Gly666=) c.1659C>T (p.Gly553=) c.2007C>T (p.Gly669=) c.2115C>T (p.Gly705=) c.2079C>T (p.Gly693=) c.2037C>T (p.Gly679=) c.1679+6278C>T (n.1679+6278C>T) c.2133C>T (p.Gly711=) c.2199C>T (p.Gly733=) c.2196C>T (p.Gly732=) c.2169C>T (p.Gly723=) c.2088C>T (p.Gly696=) c.2073C>T (p.Gly691=) c.1680C>T (p.Gly560=) c.2142C>T (p.Gly714=) c.2076C>T (p.Gly692=) c.2034C>T (p.Gly678=) c.1107C>T (p.Gly369=) | dbSNP gnomAD v4 |
20 | g.63407172G>C | CA511339343 | KCNQ2 | c.2145C>G (p.Gly715=) c.2091C>G (p.Gly697=) c.1488C>G (p.Gly496=) c.1998C>G (p.Gly666=) c.1659C>G (p.Gly553=) c.2007C>G (p.Gly669=) c.2115C>G (p.Gly705=) c.2079C>G (p.Gly693=) c.2037C>G (p.Gly679=) c.1679+6278C>G (n.1679+6278C>G) c.2133C>G (p.Gly711=) c.2199C>G (p.Gly733=) c.2196C>G (p.Gly732=) c.2169C>G (p.Gly723=) c.2088C>G (p.Gly696=) c.2073C>G (p.Gly691=) c.1680C>G (p.Gly560=) c.2142C>G (p.Gly714=) c.2076C>G (p.Gly692=) c.2034C>G (p.Gly678=) c.1107C>G (p.Gly369=) | |
20 | g.63407172G= | CA2374774463 | KCNQ2 | c.2145C= (p.Gly715=) c.2091C= (p.Gly697=) c.1488C= (p.Gly496=) c.1998C= (p.Gly666=) c.1659C= (p.Gly553=) c.2007C= (p.Gly669=) c.2115C= (p.Gly705=) c.2079C= (p.Gly693=) c.2037C= (p.Gly679=) c.1679+6278C= (n.1679+6278C=) c.2133C= (p.Gly711=) c.2199C= (p.Gly733=) c.2196C= (p.Gly732=) c.2169C= (p.Gly723=) c.2088C= (p.Gly696=) c.2073C= (p.Gly691=) c.1680C= (p.Gly560=) c.2142C= (p.Gly714=) c.2076C= (p.Gly692=) c.2034C= (p.Gly678=) c.1107C= (p.Gly369=) | |
20 | g.63407172G>T | CA511339345 | KCNQ2 | c.2145C>A (p.Gly715=) c.2091C>A (p.Gly697=) c.1488C>A (p.Gly496=) c.1998C>A (p.Gly666=) c.1659C>A (p.Gly553=) c.2007C>A (p.Gly669=) c.2115C>A (p.Gly705=) c.2079C>A (p.Gly693=) c.2037C>A (p.Gly679=) c.1679+6278C>A (n.1679+6278C>A) c.2133C>A (p.Gly711=) c.2199C>A (p.Gly733=) c.2196C>A (p.Gly732=) c.2169C>A (p.Gly723=) c.2088C>A (p.Gly696=) c.2073C>A (p.Gly691=) c.1680C>A (p.Gly560=) c.2142C>A (p.Gly714=) c.2076C>A (p.Gly692=) c.2034C>A (p.Gly678=) c.1107C>A (p.Gly369=) | gnomAD v4 |
20 | g.63407173C>A | CA409639014 | KCNQ2 | c.2144G>T (p.Gly715Val) c.2090G>T (p.Gly697Val) c.1487G>T (p.Gly496Val) c.1997G>T (p.Gly666Val) c.1658G>T (p.Gly553Val) c.2006G>T (p.Gly669Val) c.2114G>T (p.Gly705Val) c.2078G>T (p.Gly693Val) c.2036G>T (p.Gly679Val) c.1679+6277G>T (n.1679+6277G>T) c.2132G>T (p.Gly711Val) c.2198G>T (p.Gly733Val) c.2195G>T (p.Gly732Val) c.2168G>T (p.Gly723Val) c.2087G>T (p.Gly696Val) c.2072G>T (p.Gly691Val) c.1679G>T (p.Gly560Val) c.2141G>T (p.Gly714Val) c.2075G>T (p.Gly692Val) c.2033G>T (p.Gly678Val) c.1106G>T (p.Gly369Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407173C= | CA2374774464 | KCNQ2 | c.2144G= (p.Gly715=) c.2090G= (p.Gly697=) c.1487G= (p.Gly496=) c.1997G= (p.Gly666=) c.1658G= (p.Gly553=) c.2006G= (p.Gly669=) c.2114G= (p.Gly705=) c.2078G= (p.Gly693=) c.2036G= (p.Gly679=) c.1679+6277G= (n.1679+6277G=) c.2132G= (p.Gly711=) c.2198G= (p.Gly733=) c.2195G= (p.Gly732=) c.2168G= (p.Gly723=) c.2087G= (p.Gly696=) c.2072G= (p.Gly691=) c.1679G= (p.Gly560=) c.2141G= (p.Gly714=) c.2075G= (p.Gly692=) c.2033G= (p.Gly678=) c.1106G= (p.Gly369=) | |
20 | g.63407173C>G | CA409639015 | KCNQ2 | c.2144G>C (p.Gly715Ala) c.2090G>C (p.Gly697Ala) c.1487G>C (p.Gly496Ala) c.1997G>C (p.Gly666Ala) c.1658G>C (p.Gly553Ala) c.2006G>C (p.Gly669Ala) c.2114G>C (p.Gly705Ala) c.2078G>C (p.Gly693Ala) c.2036G>C (p.Gly679Ala) c.1679+6277G>C (n.1679+6277G>C) c.2132G>C (p.Gly711Ala) c.2198G>C (p.Gly733Ala) c.2195G>C (p.Gly732Ala) c.2168G>C (p.Gly723Ala) c.2087G>C (p.Gly696Ala) c.2072G>C (p.Gly691Ala) c.1679G>C (p.Gly560Ala) c.2141G>C (p.Gly714Ala) c.2075G>C (p.Gly692Ala) c.2033G>C (p.Gly678Ala) c.1106G>C (p.Gly369Ala) | |
20 | g.63407173C>T | CA409639016 | KCNQ2 | c.2144G>A (p.Gly715Asp) c.2090G>A (p.Gly697Asp) c.1487G>A (p.Gly496Asp) c.1997G>A (p.Gly666Asp) c.1658G>A (p.Gly553Asp) c.2006G>A (p.Gly669Asp) c.2114G>A (p.Gly705Asp) c.2078G>A (p.Gly693Asp) c.2036G>A (p.Gly679Asp) c.1679+6277G>A (n.1679+6277G>A) c.2132G>A (p.Gly711Asp) c.2198G>A (p.Gly733Asp) c.2195G>A (p.Gly732Asp) c.2168G>A (p.Gly723Asp) c.2087G>A (p.Gly696Asp) c.2072G>A (p.Gly691Asp) c.1679G>A (p.Gly560Asp) c.2141G>A (p.Gly714Asp) c.2075G>A (p.Gly692Asp) c.2033G>A (p.Gly678Asp) c.1106G>A (p.Gly369Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407175del | CA2653805855 | KCNQ2 | c.2144del (p.Gly715AlafsTer?) c.2090del (p.Gly697AlafsTer?) c.1487del (p.Gly496AlafsTer?) c.1997del (p.Gly666AlafsTer?) c.1658del (p.Gly553AlafsTer?) c.2006del (p.Gly669AlafsTer?) c.2114del (p.Gly705AlafsTer?) c.2078del (p.Gly693AlafsTer?) c.2036del (p.Gly679AlafsTer?) c.1679+6277del (n.1679+6277del) c.2132del (p.Gly711AlafsTer?) c.2198del (p.Gly733AlafsTer?) c.2195del (p.Gly732AlafsTer?) c.2168del (p.Gly723AlafsTer?) c.2087del (p.Gly696AlafsTer?) c.2072del (p.Gly691AlafsTer?) c.1679del (p.Gly560AlafsTer?) c.2141del (p.Gly714AlafsTer?) c.2075del (p.Gly692AlafsTer?) c.2033del (p.Gly678AlafsTer?) c.1106del (p.Gly369AlafsTer?) | gnomAD v4 |
20 | g.63407174C>A | CA409639017 | KCNQ2 | c.2143G>T (p.Gly715Cys) c.2089G>T (p.Gly697Cys) c.1486G>T (p.Gly496Cys) c.1996G>T (p.Gly666Cys) c.1657G>T (p.Gly553Cys) c.2005G>T (p.Gly669Cys) c.2113G>T (p.Gly705Cys) c.2077G>T (p.Gly693Cys) c.2035G>T (p.Gly679Cys) c.1679+6276G>T (n.1679+6276G>T) c.2131G>T (p.Gly711Cys) c.2197G>T (p.Gly733Cys) c.2194G>T (p.Gly732Cys) c.2167G>T (p.Gly723Cys) c.2086G>T (p.Gly696Cys) c.2071G>T (p.Gly691Cys) c.1678G>T (p.Gly560Cys) c.2140G>T (p.Gly714Cys) c.2074G>T (p.Gly692Cys) c.2032G>T (p.Gly678Cys) c.1105G>T (p.Gly369Cys) | gnomAD v4 |
20 | g.63407174C= | CA2374774465 | KCNQ2 | c.2143G= (p.Gly715=) c.2089G= (p.Gly697=) c.1486G= (p.Gly496=) c.1996G= (p.Gly666=) c.1657G= (p.Gly553=) c.2005G= (p.Gly669=) c.2113G= (p.Gly705=) c.2077G= (p.Gly693=) c.2035G= (p.Gly679=) c.1679+6276G= (n.1679+6276G=) c.2131G= (p.Gly711=) c.2197G= (p.Gly733=) c.2194G= (p.Gly732=) c.2167G= (p.Gly723=) c.2086G= (p.Gly696=) c.2071G= (p.Gly691=) c.1678G= (p.Gly560=) c.2140G= (p.Gly714=) c.2074G= (p.Gly692=) c.2032G= (p.Gly678=) c.1105G= (p.Gly369=) | |
20 | g.63407174C>G | CA409639018 | KCNQ2 | c.2143G>C (p.Gly715Arg) c.2089G>C (p.Gly697Arg) c.1486G>C (p.Gly496Arg) c.1996G>C (p.Gly666Arg) c.1657G>C (p.Gly553Arg) c.2005G>C (p.Gly669Arg) c.2113G>C (p.Gly705Arg) c.2077G>C (p.Gly693Arg) c.2035G>C (p.Gly679Arg) c.1679+6276G>C (n.1679+6276G>C) c.2131G>C (p.Gly711Arg) c.2197G>C (p.Gly733Arg) c.2194G>C (p.Gly732Arg) c.2167G>C (p.Gly723Arg) c.2086G>C (p.Gly696Arg) c.2071G>C (p.Gly691Arg) c.1678G>C (p.Gly560Arg) c.2140G>C (p.Gly714Arg) c.2074G>C (p.Gly692Arg) c.2032G>C (p.Gly678Arg) c.1105G>C (p.Gly369Arg) | |
20 | g.63407174C>T | CA409639019 | KCNQ2 | c.2143G>A (p.Gly715Ser) c.2089G>A (p.Gly697Ser) c.1486G>A (p.Gly496Ser) c.1996G>A (p.Gly666Ser) c.1657G>A (p.Gly553Ser) c.2005G>A (p.Gly669Ser) c.2113G>A (p.Gly705Ser) c.2077G>A (p.Gly693Ser) c.2035G>A (p.Gly679Ser) c.1679+6276G>A (n.1679+6276G>A) c.2131G>A (p.Gly711Ser) c.2197G>A (p.Gly733Ser) c.2194G>A (p.Gly732Ser) c.2167G>A (p.Gly723Ser) c.2086G>A (p.Gly696Ser) c.2071G>A (p.Gly691Ser) c.1678G>A (p.Gly560Ser) c.2140G>A (p.Gly714Ser) c.2074G>A (p.Gly692Ser) c.2032G>A (p.Gly678Ser) c.1105G>A (p.Gly369Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407175C>A | CA511339348 | KCNQ2 | c.2142G>T (p.Thr714=) c.2088G>T (p.Thr696=) c.1485G>T (p.Thr495=) c.1995G>T (p.Thr665=) c.1656G>T (p.Thr552=) c.2004G>T (p.Thr668=) c.2112G>T (p.Thr704=) c.2076G>T (p.Thr692=) c.2034G>T (p.Thr678=) c.1679+6275G>T (n.1679+6275G>T) c.2130G>T (p.Thr710=) c.2196G>T (p.Thr732=) c.2193G>T (p.Thr731=) c.2166G>T (p.Thr722=) c.2085G>T (p.Thr695=) c.2070G>T (p.Thr690=) c.1677G>T (p.Thr559=) c.2139G>T (p.Thr713=) c.2073G>T (p.Thr691=) c.2031G>T (p.Thr677=) c.1104G>T (p.Thr368=) | gnomAD v4 |
20 | g.63407175C= | CA2374774466 | KCNQ2 | c.2142G= (p.Thr714=) c.2088G= (p.Thr696=) c.1485G= (p.Thr495=) c.1995G= (p.Thr665=) c.1656G= (p.Thr552=) c.2004G= (p.Thr668=) c.2112G= (p.Thr704=) c.2076G= (p.Thr692=) c.2034G= (p.Thr678=) c.1679+6275G= (n.1679+6275G=) c.2130G= (p.Thr710=) c.2196G= (p.Thr732=) c.2193G= (p.Thr731=) c.2166G= (p.Thr722=) c.2085G= (p.Thr695=) c.2070G= (p.Thr690=) c.1677G= (p.Thr559=) c.2139G= (p.Thr713=) c.2073G= (p.Thr691=) c.2031G= (p.Thr677=) c.1104G= (p.Thr368=) | |
20 | g.63407175C>G | CA511339350 | KCNQ2 | c.2142G>C (p.Thr714=) c.2088G>C (p.Thr696=) c.1485G>C (p.Thr495=) c.1995G>C (p.Thr665=) c.1656G>C (p.Thr552=) c.2004G>C (p.Thr668=) c.2112G>C (p.Thr704=) c.2076G>C (p.Thr692=) c.2034G>C (p.Thr678=) c.1679+6275G>C (n.1679+6275G>C) c.2130G>C (p.Thr710=) c.2196G>C (p.Thr732=) c.2193G>C (p.Thr731=) c.2166G>C (p.Thr722=) c.2085G>C (p.Thr695=) c.2070G>C (p.Thr690=) c.1677G>C (p.Thr559=) c.2139G>C (p.Thr713=) c.2073G>C (p.Thr691=) c.2031G>C (p.Thr677=) c.1104G>C (p.Thr368=) | |
20 | g.63407175C>T | CA9958155 | KCNQ2 | c.2142G>A (p.Thr714=) c.2088G>A (p.Thr696=) c.1485G>A (p.Thr495=) c.1995G>A (p.Thr665=) c.1656G>A (p.Thr552=) c.2004G>A (p.Thr668=) c.2112G>A (p.Thr704=) c.2076G>A (p.Thr692=) c.2034G>A (p.Thr678=) c.1679+6275G>A (n.1679+6275G>A) c.2130G>A (p.Thr710=) c.2196G>A (p.Thr732=) c.2193G>A (p.Thr731=) c.2166G>A (p.Thr722=) c.2085G>A (p.Thr695=) c.2070G>A (p.Thr690=) c.1677G>A (p.Thr559=) c.2139G>A (p.Thr713=) c.2073G>A (p.Thr691=) c.2031G>A (p.Thr677=) c.1104G>A (p.Thr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407176G>A | CA9958156 | KCNQ2 | c.2141C>T (p.Thr714Met) c.2087C>T (p.Thr696Met) c.1484C>T (p.Thr495Met) c.1994C>T (p.Thr665Met) c.1655C>T (p.Thr552Met) c.2003C>T (p.Thr668Met) c.2111C>T (p.Thr704Met) c.2075C>T (p.Thr692Met) c.2033C>T (p.Thr678Met) c.1679+6274C>T (n.1679+6274C>T) c.2129C>T (p.Thr710Met) c.2195C>T (p.Thr732Met) c.2192C>T (p.Thr731Met) c.2165C>T (p.Thr722Met) c.2084C>T (p.Thr695Met) c.2069C>T (p.Thr690Met) c.1676C>T (p.Thr559Met) c.2138C>T (p.Thr713Met) c.2072C>T (p.Thr691Met) c.2030C>T (p.Thr677Met) c.1103C>T (p.Thr368Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407176G>C | CA409639020 | KCNQ2 | c.2141C>G (p.Thr714Arg) c.2087C>G (p.Thr696Arg) c.1484C>G (p.Thr495Arg) c.1994C>G (p.Thr665Arg) c.1655C>G (p.Thr552Arg) c.2003C>G (p.Thr668Arg) c.2111C>G (p.Thr704Arg) c.2075C>G (p.Thr692Arg) c.2033C>G (p.Thr678Arg) c.1679+6274C>G (n.1679+6274C>G) c.2129C>G (p.Thr710Arg) c.2195C>G (p.Thr732Arg) c.2192C>G (p.Thr731Arg) c.2165C>G (p.Thr722Arg) c.2084C>G (p.Thr695Arg) c.2069C>G (p.Thr690Arg) c.1676C>G (p.Thr559Arg) c.2138C>G (p.Thr713Arg) c.2072C>G (p.Thr691Arg) c.2030C>G (p.Thr677Arg) c.1103C>G (p.Thr368Arg) | |
20 | g.63407176G= | CA2374774467 | KCNQ2 | c.2141C= (p.Thr714=) c.2087C= (p.Thr696=) c.1484C= (p.Thr495=) c.1994C= (p.Thr665=) c.1655C= (p.Thr552=) c.2003C= (p.Thr668=) c.2111C= (p.Thr704=) c.2075C= (p.Thr692=) c.2033C= (p.Thr678=) c.1679+6274C= (n.1679+6274C=) c.2129C= (p.Thr710=) c.2195C= (p.Thr732=) c.2192C= (p.Thr731=) c.2165C= (p.Thr722=) c.2084C= (p.Thr695=) c.2069C= (p.Thr690=) c.1676C= (p.Thr559=) c.2138C= (p.Thr713=) c.2072C= (p.Thr691=) c.2030C= (p.Thr677=) c.1103C= (p.Thr368=) | |
20 | g.63407176G>T | CA409639021 | KCNQ2 | c.2141C>A (p.Thr714Lys) c.2087C>A (p.Thr696Lys) c.1484C>A (p.Thr495Lys) c.1994C>A (p.Thr665Lys) c.1655C>A (p.Thr552Lys) c.2003C>A (p.Thr668Lys) c.2111C>A (p.Thr704Lys) c.2075C>A (p.Thr692Lys) c.2033C>A (p.Thr678Lys) c.1679+6274C>A (n.1679+6274C>A) c.2129C>A (p.Thr710Lys) c.2195C>A (p.Thr732Lys) c.2192C>A (p.Thr731Lys) c.2165C>A (p.Thr722Lys) c.2084C>A (p.Thr695Lys) c.2069C>A (p.Thr690Lys) c.1676C>A (p.Thr559Lys) c.2138C>A (p.Thr713Lys) c.2072C>A (p.Thr691Lys) c.2030C>A (p.Thr677Lys) c.1103C>A (p.Thr368Lys) | gnomAD v4 |
20 | g.63407176dup | CA2842871707 | KCNQ2 | c.2141dup (p.Gln716ProfsTer?) c.2087dup (p.Gln698ProfsTer?) c.1484dup (p.Gln497ProfsTer?) c.1994dup (p.Gln667ProfsTer?) c.1655dup (p.Gln554ProfsTer?) c.2003dup (p.Gln670ProfsTer?) c.2111dup (p.Gln706ProfsTer?) c.2075dup (p.Gln694ProfsTer?) c.2033dup (p.Gln680ProfsTer?) c.1679+6274dup (n.1679+6274dup) c.2129dup (p.Gln712ProfsTer?) c.2195dup (p.Gln734ProfsTer?) c.2192dup (p.Gln733ProfsTer?) c.2165dup (p.Gln724ProfsTer?) c.2084dup (p.Gln697ProfsTer?) c.2069dup (p.Gln692ProfsTer?) c.1676dup (p.Gln561ProfsTer?) c.2138dup (p.Gln715ProfsTer?) c.2072dup (p.Gln693ProfsTer?) c.2030dup (p.Gln679ProfsTer?) c.1103dup (p.Gln370ProfsTer?) | |
20 | g.63407177T>A | CA409639022 | KCNQ2 | c.2140A>T (p.Thr714Ser) c.2086A>T (p.Thr696Ser) c.1483A>T (p.Thr495Ser) c.1993A>T (p.Thr665Ser) c.1654A>T (p.Thr552Ser) c.2002A>T (p.Thr668Ser) c.2110A>T (p.Thr704Ser) c.2074A>T (p.Thr692Ser) c.2032A>T (p.Thr678Ser) c.1679+6273A>T (n.1679+6273A>T) c.2128A>T (p.Thr710Ser) c.2194A>T (p.Thr732Ser) c.2191A>T (p.Thr731Ser) c.2164A>T (p.Thr722Ser) c.2083A>T (p.Thr695Ser) c.2068A>T (p.Thr690Ser) c.1675A>T (p.Thr559Ser) c.2137A>T (p.Thr713Ser) c.2071A>T (p.Thr691Ser) c.2029A>T (p.Thr677Ser) c.1102A>T (p.Thr368Ser) | |
20 | g.63407177T>C | CA409639023 | KCNQ2 | c.2140A>G (p.Thr714Ala) c.2086A>G (p.Thr696Ala) c.1483A>G (p.Thr495Ala) c.1993A>G (p.Thr665Ala) c.1654A>G (p.Thr552Ala) c.2002A>G (p.Thr668Ala) c.2110A>G (p.Thr704Ala) c.2074A>G (p.Thr692Ala) c.2032A>G (p.Thr678Ala) c.1679+6273A>G (n.1679+6273A>G) c.2128A>G (p.Thr710Ala) c.2194A>G (p.Thr732Ala) c.2191A>G (p.Thr731Ala) c.2164A>G (p.Thr722Ala) c.2083A>G (p.Thr695Ala) c.2068A>G (p.Thr690Ala) c.1675A>G (p.Thr559Ala) c.2137A>G (p.Thr713Ala) c.2071A>G (p.Thr691Ala) c.2029A>G (p.Thr677Ala) c.1102A>G (p.Thr368Ala) | gnomAD v4 |
20 | g.63407177T>G | CA409639024 | KCNQ2 | c.2140A>C (p.Thr714Pro) c.2086A>C (p.Thr696Pro) c.1483A>C (p.Thr495Pro) c.1993A>C (p.Thr665Pro) c.1654A>C (p.Thr552Pro) c.2002A>C (p.Thr668Pro) c.2110A>C (p.Thr704Pro) c.2074A>C (p.Thr692Pro) c.2032A>C (p.Thr678Pro) c.1679+6273A>C (n.1679+6273A>C) c.2128A>C (p.Thr710Pro) c.2194A>C (p.Thr732Pro) c.2191A>C (p.Thr731Pro) c.2164A>C (p.Thr722Pro) c.2083A>C (p.Thr695Pro) c.2068A>C (p.Thr690Pro) c.1675A>C (p.Thr559Pro) c.2137A>C (p.Thr713Pro) c.2071A>C (p.Thr691Pro) c.2029A>C (p.Thr677Pro) c.1102A>C (p.Thr368Pro) | |
20 | g.63407177_63407178delinsTG | CA2374774468 | KCNQ2 | c.2139_2140delinsCA (p.Ser713=) c.2085_2086delinsCA (p.Ser695=) c.1482_1483delinsCA (p.Ser494=) c.1992_1993delinsCA (p.Ser664=) c.1653_1654delinsCA (p.Ser551=) c.2001_2002delinsCA (p.Ser667=) c.2109_2110delinsCA (p.Ser703=) c.2073_2074delinsCA (p.Ser691=) c.2031_2032delinsCA (p.Ser677=) c.1679+6272_1679+6273delinsCA (n.1679+6272_1679+6273delinsCA) c.2127_2128delinsCA (p.Ser709=) c.2193_2194delinsCA (p.Ser731=) c.2190_2191delinsCA (p.Ser730=) c.2163_2164delinsCA (p.Ser721=) c.2082_2083delinsCA (p.Ser694=) c.2067_2068delinsCA (p.Ser689=) c.1674_1675delinsCA (p.Ser558=) c.2136_2137delinsCA (p.Ser712=) c.2070_2071delinsCA (p.Ser690=) c.2028_2029delinsCA (p.Ser676=) c.1101_1102delinsCA (p.Ser367=) | |
20 | g.63407178G>A | CA511339354 | KCNQ2 | c.2139C>T (p.Ser713=) c.2085C>T (p.Ser695=) c.1482C>T (p.Ser494=) c.1992C>T (p.Ser664=) c.1653C>T (p.Ser551=) c.2001C>T (p.Ser667=) c.2109C>T (p.Ser703=) c.2073C>T (p.Ser691=) c.2031C>T (p.Ser677=) c.1679+6272C>T (n.1679+6272C>T) c.2127C>T (p.Ser709=) c.2193C>T (p.Ser731=) c.2190C>T (p.Ser730=) c.2163C>T (p.Ser721=) c.2082C>T (p.Ser694=) c.2067C>T (p.Ser689=) c.1674C>T (p.Ser558=) c.2136C>T (p.Ser712=) c.2070C>T (p.Ser690=) c.2028C>T (p.Ser676=) c.1101C>T (p.Ser367=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407178G>C | CA511339355 | KCNQ2 | c.2139C>G (p.Ser713=) c.2085C>G (p.Ser695=) c.1482C>G (p.Ser494=) c.1992C>G (p.Ser664=) c.1653C>G (p.Ser551=) c.2001C>G (p.Ser667=) c.2109C>G (p.Ser703=) c.2073C>G (p.Ser691=) c.2031C>G (p.Ser677=) c.1679+6272C>G (n.1679+6272C>G) c.2127C>G (p.Ser709=) c.2193C>G (p.Ser731=) c.2190C>G (p.Ser730=) c.2163C>G (p.Ser721=) c.2082C>G (p.Ser694=) c.2067C>G (p.Ser689=) c.1674C>G (p.Ser558=) c.2136C>G (p.Ser712=) c.2070C>G (p.Ser690=) c.2028C>G (p.Ser676=) c.1101C>G (p.Ser367=) | |
20 | g.63407178G= | CA2374774469 | KCNQ2 | c.2139C= (p.Ser713=) c.2085C= (p.Ser695=) c.1482C= (p.Ser494=) c.1992C= (p.Ser664=) c.1653C= (p.Ser551=) c.2001C= (p.Ser667=) c.2109C= (p.Ser703=) c.2073C= (p.Ser691=) c.2031C= (p.Ser677=) c.1679+6272C= (n.1679+6272C=) c.2127C= (p.Ser709=) c.2193C= (p.Ser731=) c.2190C= (p.Ser730=) c.2163C= (p.Ser721=) c.2082C= (p.Ser694=) c.2067C= (p.Ser689=) c.1674C= (p.Ser558=) c.2136C= (p.Ser712=) c.2070C= (p.Ser690=) c.2028C= (p.Ser676=) c.1101C= (p.Ser367=) | |
20 | g.63407178G>T | CA511339356 | KCNQ2 | c.2139C>A (p.Ser713=) c.2085C>A (p.Ser695=) c.1482C>A (p.Ser494=) c.1992C>A (p.Ser664=) c.1653C>A (p.Ser551=) c.2001C>A (p.Ser667=) c.2109C>A (p.Ser703=) c.2073C>A (p.Ser691=) c.2031C>A (p.Ser677=) c.1679+6272C>A (n.1679+6272C>A) c.2127C>A (p.Ser709=) c.2193C>A (p.Ser731=) c.2190C>A (p.Ser730=) c.2163C>A (p.Ser721=) c.2082C>A (p.Ser694=) c.2067C>A (p.Ser689=) c.1674C>A (p.Ser558=) c.2136C>A (p.Ser712=) c.2070C>A (p.Ser690=) c.2028C>A (p.Ser676=) c.1101C>A (p.Ser367=) | gnomAD v4 |
20 | g.63407179del | CA645369788 | KCNQ2 | c.2139del (p.Thr714ArgfsTer?) c.2085del (p.Thr696ArgfsTer?) c.1482del (p.Thr495ArgfsTer?) c.1992del (p.Thr665ArgfsTer?) c.1653del (p.Thr552ArgfsTer?) c.2001del (p.Thr668ArgfsTer?) c.2109del (p.Thr704ArgfsTer?) c.2073del (p.Thr692ArgfsTer?) c.2031del (p.Thr678ArgfsTer?) c.1679+6272del (n.1679+6272del) c.2127del (p.Thr710ArgfsTer?) c.2193del (p.Thr732ArgfsTer?) c.2190del (p.Thr731ArgfsTer?) c.2163del (p.Thr722ArgfsTer?) c.2082del (p.Thr695ArgfsTer?) c.2067del (p.Thr690ArgfsTer?) c.1674del (p.Thr559ArgfsTer?) c.2136del (p.Thr713ArgfsTer?) c.2070del (p.Thr691ArgfsTer?) c.2028del (p.Thr677ArgfsTer?) c.1101del (p.Thr368ArgfsTer?) | ClinVar dbSNP |
20 | g.63407179G>A | CA409639025 | KCNQ2 | c.2138C>T (p.Ser713Phe) c.2084C>T (p.Ser695Phe) c.1481C>T (p.Ser494Phe) c.1991C>T (p.Ser664Phe) c.1652C>T (p.Ser551Phe) c.2000C>T (p.Ser667Phe) c.2108C>T (p.Ser703Phe) c.2072C>T (p.Ser691Phe) c.2030C>T (p.Ser677Phe) c.1679+6271C>T (n.1679+6271C>T) c.2126C>T (p.Ser709Phe) c.2192C>T (p.Ser731Phe) c.2189C>T (p.Ser730Phe) c.2162C>T (p.Ser721Phe) c.2081C>T (p.Ser694Phe) c.2066C>T (p.Ser689Phe) c.1673C>T (p.Ser558Phe) c.2135C>T (p.Ser712Phe) c.2069C>T (p.Ser690Phe) c.2027C>T (p.Ser676Phe) c.1100C>T (p.Ser367Phe) | dbSNP gnomAD v2 |
20 | g.63407179G>C | CA409639027 | KCNQ2 | c.2138C>G (p.Ser713Cys) c.2084C>G (p.Ser695Cys) c.1481C>G (p.Ser494Cys) c.1991C>G (p.Ser664Cys) c.1652C>G (p.Ser551Cys) c.2000C>G (p.Ser667Cys) c.2108C>G (p.Ser703Cys) c.2072C>G (p.Ser691Cys) c.2030C>G (p.Ser677Cys) c.1679+6271C>G (n.1679+6271C>G) c.2126C>G (p.Ser709Cys) c.2192C>G (p.Ser731Cys) c.2189C>G (p.Ser730Cys) c.2162C>G (p.Ser721Cys) c.2081C>G (p.Ser694Cys) c.2066C>G (p.Ser689Cys) c.1673C>G (p.Ser558Cys) c.2135C>G (p.Ser712Cys) c.2069C>G (p.Ser690Cys) c.2027C>G (p.Ser676Cys) c.1100C>G (p.Ser367Cys) | |
20 | g.63407179G= | CA2374774470 | KCNQ2 | c.2138C= (p.Ser713=) c.2084C= (p.Ser695=) c.1481C= (p.Ser494=) c.1991C= (p.Ser664=) c.1652C= (p.Ser551=) c.2000C= (p.Ser667=) c.2108C= (p.Ser703=) c.2072C= (p.Ser691=) c.2030C= (p.Ser677=) c.1679+6271C= (n.1679+6271C=) c.2126C= (p.Ser709=) c.2192C= (p.Ser731=) c.2189C= (p.Ser730=) c.2162C= (p.Ser721=) c.2081C= (p.Ser694=) c.2066C= (p.Ser689=) c.1673C= (p.Ser558=) c.2135C= (p.Ser712=) c.2069C= (p.Ser690=) c.2027C= (p.Ser676=) c.1100C= (p.Ser367=) | |
20 | g.63407179G>T | CA409639026 | KCNQ2 | c.2138C>A (p.Ser713Tyr) c.2084C>A (p.Ser695Tyr) c.1481C>A (p.Ser494Tyr) c.1991C>A (p.Ser664Tyr) c.1652C>A (p.Ser551Tyr) c.2000C>A (p.Ser667Tyr) c.2108C>A (p.Ser703Tyr) c.2072C>A (p.Ser691Tyr) c.2030C>A (p.Ser677Tyr) c.1679+6271C>A (n.1679+6271C>A) c.2126C>A (p.Ser709Tyr) c.2192C>A (p.Ser731Tyr) c.2189C>A (p.Ser730Tyr) c.2162C>A (p.Ser721Tyr) c.2081C>A (p.Ser694Tyr) c.2066C>A (p.Ser689Tyr) c.1673C>A (p.Ser558Tyr) c.2135C>A (p.Ser712Tyr) c.2069C>A (p.Ser690Tyr) c.2027C>A (p.Ser676Tyr) c.1100C>A (p.Ser367Tyr) | gnomAD v4 |
20 | g.63407180A= | CA2374774471 | KCNQ2 | c.2137T= (p.Ser713=) c.2083T= (p.Ser695=) c.1480T= (p.Ser494=) c.1990T= (p.Ser664=) c.1651T= (p.Ser551=) c.1999T= (p.Ser667=) c.2107T= (p.Ser703=) c.2071T= (p.Ser691=) c.2029T= (p.Ser677=) c.1679+6270T= (n.1679+6270T=) c.2125T= (p.Ser709=) c.2191T= (p.Ser731=) c.2188T= (p.Ser730=) c.2161T= (p.Ser721=) c.2080T= (p.Ser694=) c.2065T= (p.Ser689=) c.1672T= (p.Ser558=) c.2134T= (p.Ser712=) c.2068T= (p.Ser690=) c.2026T= (p.Ser676=) c.1099T= (p.Ser367=) | |
20 | g.63407180A>C | CA409639028 | KCNQ2 | c.2137T>G (p.Ser713Ala) c.2083T>G (p.Ser695Ala) c.1480T>G (p.Ser494Ala) c.1990T>G (p.Ser664Ala) c.1651T>G (p.Ser551Ala) c.1999T>G (p.Ser667Ala) c.2107T>G (p.Ser703Ala) c.2071T>G (p.Ser691Ala) c.2029T>G (p.Ser677Ala) c.1679+6270T>G (n.1679+6270T>G) c.2125T>G (p.Ser709Ala) c.2191T>G (p.Ser731Ala) c.2188T>G (p.Ser730Ala) c.2161T>G (p.Ser721Ala) c.2080T>G (p.Ser694Ala) c.2065T>G (p.Ser689Ala) c.1672T>G (p.Ser558Ala) c.2134T>G (p.Ser712Ala) c.2068T>G (p.Ser690Ala) c.2026T>G (p.Ser676Ala) c.1099T>G (p.Ser367Ala) | |
20 | g.63407180A>G | CA409639029 | KCNQ2 | c.2137T>C (p.Ser713Pro) c.2083T>C (p.Ser695Pro) c.1480T>C (p.Ser494Pro) c.1990T>C (p.Ser664Pro) c.1651T>C (p.Ser551Pro) c.1999T>C (p.Ser667Pro) c.2107T>C (p.Ser703Pro) c.2071T>C (p.Ser691Pro) c.2029T>C (p.Ser677Pro) c.1679+6270T>C (n.1679+6270T>C) c.2125T>C (p.Ser709Pro) c.2191T>C (p.Ser731Pro) c.2188T>C (p.Ser730Pro) c.2161T>C (p.Ser721Pro) c.2080T>C (p.Ser694Pro) c.2065T>C (p.Ser689Pro) c.1672T>C (p.Ser558Pro) c.2134T>C (p.Ser712Pro) c.2068T>C (p.Ser690Pro) c.2026T>C (p.Ser676Pro) c.1099T>C (p.Ser367Pro) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407180A>T | CA409639030 | KCNQ2 | c.2137T>A (p.Ser713Thr) c.2083T>A (p.Ser695Thr) c.1480T>A (p.Ser494Thr) c.1990T>A (p.Ser664Thr) c.1651T>A (p.Ser551Thr) c.1999T>A (p.Ser667Thr) c.2107T>A (p.Ser703Thr) c.2071T>A (p.Ser691Thr) c.2029T>A (p.Ser677Thr) c.1679+6270T>A (n.1679+6270T>A) c.2125T>A (p.Ser709Thr) c.2191T>A (p.Ser731Thr) c.2188T>A (p.Ser730Thr) c.2161T>A (p.Ser721Thr) c.2080T>A (p.Ser694Thr) c.2065T>A (p.Ser689Thr) c.1672T>A (p.Ser558Thr) c.2134T>A (p.Ser712Thr) c.2068T>A (p.Ser690Thr) c.2026T>A (p.Ser676Thr) c.1099T>A (p.Ser367Thr) | |
20 | g.63407181G>A | CA511339361 | KCNQ2 | c.2136C>T (p.Ser712=) c.2082C>T (p.Ser694=) c.1479C>T (p.Ser493=) c.1989C>T (p.Ser663=) c.1650C>T (p.Ser550=) c.1998C>T (p.Ser666=) c.2106C>T (p.Ser702=) c.2070C>T (p.Ser690=) c.2028C>T (p.Ser676=) c.1679+6269C>T (n.1679+6269C>T) c.2124C>T (p.Ser708=) c.2190C>T (p.Ser730=) c.2187C>T (p.Ser729=) c.2160C>T (p.Ser720=) c.2079C>T (p.Ser693=) c.2064C>T (p.Ser688=) c.1671C>T (p.Ser557=) c.2133C>T (p.Ser711=) c.2067C>T (p.Ser689=) c.2025C>T (p.Ser675=) c.1098C>T (p.Ser366=) | |
20 | g.63407181G>C | CA409639031 | KCNQ2 | c.2136C>G (p.Ser712Arg) c.2082C>G (p.Ser694Arg) c.1479C>G (p.Ser493Arg) c.1989C>G (p.Ser663Arg) c.1650C>G (p.Ser550Arg) c.1998C>G (p.Ser666Arg) c.2106C>G (p.Ser702Arg) c.2070C>G (p.Ser690Arg) c.2028C>G (p.Ser676Arg) c.1679+6269C>G (n.1679+6269C>G) c.2124C>G (p.Ser708Arg) c.2190C>G (p.Ser730Arg) c.2187C>G (p.Ser729Arg) c.2160C>G (p.Ser720Arg) c.2079C>G (p.Ser693Arg) c.2064C>G (p.Ser688Arg) c.1671C>G (p.Ser557Arg) c.2133C>G (p.Ser711Arg) c.2067C>G (p.Ser689Arg) c.2025C>G (p.Ser675Arg) c.1098C>G (p.Ser366Arg) | ClinVar |
20 | g.63407181G>T | CA409639032 | KCNQ2 | c.2136C>A (p.Ser712Arg) c.2082C>A (p.Ser694Arg) c.1479C>A (p.Ser493Arg) c.1989C>A (p.Ser663Arg) c.1650C>A (p.Ser550Arg) c.1998C>A (p.Ser666Arg) c.2106C>A (p.Ser702Arg) c.2070C>A (p.Ser690Arg) c.2028C>A (p.Ser676Arg) c.1679+6269C>A (n.1679+6269C>A) c.2124C>A (p.Ser708Arg) c.2190C>A (p.Ser730Arg) c.2187C>A (p.Ser729Arg) c.2160C>A (p.Ser720Arg) c.2079C>A (p.Ser693Arg) c.2064C>A (p.Ser688Arg) c.1671C>A (p.Ser557Arg) c.2133C>A (p.Ser711Arg) c.2067C>A (p.Ser689Arg) c.2025C>A (p.Ser675Arg) c.1098C>A (p.Ser366Arg) | gnomAD v4 |
20 | g.63407182C>A | CA409639033 | KCNQ2 | c.2135G>T (p.Ser712Ile) c.2081G>T (p.Ser694Ile) c.1478G>T (p.Ser493Ile) c.1988G>T (p.Ser663Ile) c.1649G>T (p.Ser550Ile) c.1997G>T (p.Ser666Ile) c.2105G>T (p.Ser702Ile) c.2069G>T (p.Ser690Ile) c.2027G>T (p.Ser676Ile) c.1679+6268G>T (n.1679+6268G>T) c.2123G>T (p.Ser708Ile) c.2189G>T (p.Ser730Ile) c.2186G>T (p.Ser729Ile) c.2159G>T (p.Ser720Ile) c.2078G>T (p.Ser693Ile) c.2063G>T (p.Ser688Ile) c.1670G>T (p.Ser557Ile) c.2132G>T (p.Ser711Ile) c.2066G>T (p.Ser689Ile) c.2024G>T (p.Ser675Ile) c.1097G>T (p.Ser366Ile) | gnomAD v4 |
20 | g.63407182C= | CA2374774472 | KCNQ2 | c.2135G= (p.Ser712=) c.2081G= (p.Ser694=) c.1478G= (p.Ser493=) c.1988G= (p.Ser663=) c.1649G= (p.Ser550=) c.1997G= (p.Ser666=) c.2105G= (p.Ser702=) c.2069G= (p.Ser690=) c.2027G= (p.Ser676=) c.1679+6268G= (n.1679+6268G=) c.2123G= (p.Ser708=) c.2189G= (p.Ser730=) c.2186G= (p.Ser729=) c.2159G= (p.Ser720=) c.2078G= (p.Ser693=) c.2063G= (p.Ser688=) c.1670G= (p.Ser557=) c.2132G= (p.Ser711=) c.2066G= (p.Ser689=) c.2024G= (p.Ser675=) c.1097G= (p.Ser366=) | |
20 | g.63407182C>G | CA9958157 | KCNQ2 | c.2135G>C (p.Ser712Thr) c.2081G>C (p.Ser694Thr) c.1478G>C (p.Ser493Thr) c.1988G>C (p.Ser663Thr) c.1649G>C (p.Ser550Thr) c.1997G>C (p.Ser666Thr) c.2105G>C (p.Ser702Thr) c.2069G>C (p.Ser690Thr) c.2027G>C (p.Ser676Thr) c.1679+6268G>C (n.1679+6268G>C) c.2123G>C (p.Ser708Thr) c.2189G>C (p.Ser730Thr) c.2186G>C (p.Ser729Thr) c.2159G>C (p.Ser720Thr) c.2078G>C (p.Ser693Thr) c.2063G>C (p.Ser688Thr) c.1670G>C (p.Ser557Thr) c.2132G>C (p.Ser711Thr) c.2066G>C (p.Ser689Thr) c.2024G>C (p.Ser675Thr) c.1097G>C (p.Ser366Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407182C>T | CA409639034 | KCNQ2 | c.2135G>A (p.Ser712Asn) c.2081G>A (p.Ser694Asn) c.1478G>A (p.Ser493Asn) c.1988G>A (p.Ser663Asn) c.1649G>A (p.Ser550Asn) c.1997G>A (p.Ser666Asn) c.2105G>A (p.Ser702Asn) c.2069G>A (p.Ser690Asn) c.2027G>A (p.Ser676Asn) c.1679+6268G>A (n.1679+6268G>A) c.2123G>A (p.Ser708Asn) c.2189G>A (p.Ser730Asn) c.2186G>A (p.Ser729Asn) c.2159G>A (p.Ser720Asn) c.2078G>A (p.Ser693Asn) c.2063G>A (p.Ser688Asn) c.1670G>A (p.Ser557Asn) c.2132G>A (p.Ser711Asn) c.2066G>A (p.Ser689Asn) c.2024G>A (p.Ser675Asn) c.1097G>A (p.Ser366Asn) | |
20 | g.63407183T>A | CA409639035 | KCNQ2 | c.2134A>T (p.Ser712Cys) c.2080A>T (p.Ser694Cys) c.1477A>T (p.Ser493Cys) c.1987A>T (p.Ser663Cys) c.1648A>T (p.Ser550Cys) c.1996A>T (p.Ser666Cys) c.2104A>T (p.Ser702Cys) c.2068A>T (p.Ser690Cys) c.2026A>T (p.Ser676Cys) c.1679+6267A>T (n.1679+6267A>T) c.2122A>T (p.Ser708Cys) c.2188A>T (p.Ser730Cys) c.2185A>T (p.Ser729Cys) c.2158A>T (p.Ser720Cys) c.2077A>T (p.Ser693Cys) c.2062A>T (p.Ser688Cys) c.1669A>T (p.Ser557Cys) c.2131A>T (p.Ser711Cys) c.2065A>T (p.Ser689Cys) c.2023A>T (p.Ser675Cys) c.1096A>T (p.Ser366Cys) | |
20 | g.63407183T>C | CA409639036 | KCNQ2 | c.2134A>G (p.Ser712Gly) c.2080A>G (p.Ser694Gly) c.1477A>G (p.Ser493Gly) c.1987A>G (p.Ser663Gly) c.1648A>G (p.Ser550Gly) c.1996A>G (p.Ser666Gly) c.2104A>G (p.Ser702Gly) c.2068A>G (p.Ser690Gly) c.2026A>G (p.Ser676Gly) c.1679+6267A>G (n.1679+6267A>G) c.2122A>G (p.Ser708Gly) c.2188A>G (p.Ser730Gly) c.2185A>G (p.Ser729Gly) c.2158A>G (p.Ser720Gly) c.2077A>G (p.Ser693Gly) c.2062A>G (p.Ser688Gly) c.1669A>G (p.Ser557Gly) c.2131A>G (p.Ser711Gly) c.2065A>G (p.Ser689Gly) c.2023A>G (p.Ser675Gly) c.1096A>G (p.Ser366Gly) | |
20 | g.63407183T>G | CA409639037 | KCNQ2 | c.2134A>C (p.Ser712Arg) c.2080A>C (p.Ser694Arg) c.1477A>C (p.Ser493Arg) c.1987A>C (p.Ser663Arg) c.1648A>C (p.Ser550Arg) c.1996A>C (p.Ser666Arg) c.2104A>C (p.Ser702Arg) c.2068A>C (p.Ser690Arg) c.2026A>C (p.Ser676Arg) c.1679+6267A>C (n.1679+6267A>C) c.2122A>C (p.Ser708Arg) c.2188A>C (p.Ser730Arg) c.2185A>C (p.Ser729Arg) c.2158A>C (p.Ser720Arg) c.2077A>C (p.Ser693Arg) c.2062A>C (p.Ser688Arg) c.1669A>C (p.Ser557Arg) c.2131A>C (p.Ser711Arg) c.2065A>C (p.Ser689Arg) c.2023A>C (p.Ser675Arg) c.1096A>C (p.Ser366Arg) | gnomAD v4 |
20 | g.63407184G>A | CA511339367 | KCNQ2 | c.2133C>T (p.Ser711=) c.2079C>T (p.Ser693=) c.1476C>T (p.Ser492=) c.1986C>T (p.Ser662=) c.1647C>T (p.Ser549=) c.1995C>T (p.Ser665=) c.2103C>T (p.Ser701=) c.2067C>T (p.Ser689=) c.2025C>T (p.Ser675=) c.1679+6266C>T (n.1679+6266C>T) c.2121C>T (p.Ser707=) c.2187C>T (p.Ser729=) c.2184C>T (p.Ser728=) c.2157C>T (p.Ser719=) c.2076C>T (p.Ser692=) c.2061C>T (p.Ser687=) c.1668C>T (p.Ser556=) c.2130C>T (p.Ser710=) c.2064C>T (p.Ser688=) c.2022C>T (p.Ser674=) c.1095C>T (p.Ser365=) | gnomAD v4 |
20 | g.63407184G>C | CA409639038 | KCNQ2 | c.2133C>G (p.Ser711Arg) c.2079C>G (p.Ser693Arg) c.1476C>G (p.Ser492Arg) c.1986C>G (p.Ser662Arg) c.1647C>G (p.Ser549Arg) c.1995C>G (p.Ser665Arg) c.2103C>G (p.Ser701Arg) c.2067C>G (p.Ser689Arg) c.2025C>G (p.Ser675Arg) c.1679+6266C>G (n.1679+6266C>G) c.2121C>G (p.Ser707Arg) c.2187C>G (p.Ser729Arg) c.2184C>G (p.Ser728Arg) c.2157C>G (p.Ser719Arg) c.2076C>G (p.Ser692Arg) c.2061C>G (p.Ser687Arg) c.1668C>G (p.Ser556Arg) c.2130C>G (p.Ser710Arg) c.2064C>G (p.Ser688Arg) c.2022C>G (p.Ser674Arg) c.1095C>G (p.Ser365Arg) | ClinVar dbSNP gnomAD v4 |
20 | g.63407184G= | CA2374774473 | KCNQ2 | c.2133C= (p.Ser711=) c.2079C= (p.Ser693=) c.1476C= (p.Ser492=) c.1986C= (p.Ser662=) c.1647C= (p.Ser549=) c.1995C= (p.Ser665=) c.2103C= (p.Ser701=) c.2067C= (p.Ser689=) c.2025C= (p.Ser675=) c.1679+6266C= (n.1679+6266C=) c.2121C= (p.Ser707=) c.2187C= (p.Ser729=) c.2184C= (p.Ser728=) c.2157C= (p.Ser719=) c.2076C= (p.Ser692=) c.2061C= (p.Ser687=) c.1668C= (p.Ser556=) c.2130C= (p.Ser710=) c.2064C= (p.Ser688=) c.2022C= (p.Ser674=) c.1095C= (p.Ser365=) | |
20 | g.63407184G>T | CA409639039 | KCNQ2 | c.2133C>A (p.Ser711Arg) c.2079C>A (p.Ser693Arg) c.1476C>A (p.Ser492Arg) c.1986C>A (p.Ser662Arg) c.1647C>A (p.Ser549Arg) c.1995C>A (p.Ser665Arg) c.2103C>A (p.Ser701Arg) c.2067C>A (p.Ser689Arg) c.2025C>A (p.Ser675Arg) c.1679+6266C>A (n.1679+6266C>A) c.2121C>A (p.Ser707Arg) c.2187C>A (p.Ser729Arg) c.2184C>A (p.Ser728Arg) c.2157C>A (p.Ser719Arg) c.2076C>A (p.Ser692Arg) c.2061C>A (p.Ser687Arg) c.1668C>A (p.Ser556Arg) c.2130C>A (p.Ser710Arg) c.2064C>A (p.Ser688Arg) c.2022C>A (p.Ser674Arg) c.1095C>A (p.Ser365Arg) | gnomAD v4 |
20 | g.63407185C>A | CA409639040 | KCNQ2 | c.2132G>T (p.Ser711Ile) c.2078G>T (p.Ser693Ile) c.1475G>T (p.Ser492Ile) c.1985G>T (p.Ser662Ile) c.1646G>T (p.Ser549Ile) c.1994G>T (p.Ser665Ile) c.2102G>T (p.Ser701Ile) c.2066G>T (p.Ser689Ile) c.2024G>T (p.Ser675Ile) c.1679+6265G>T (n.1679+6265G>T) c.2120G>T (p.Ser707Ile) c.2186G>T (p.Ser729Ile) c.2183G>T (p.Ser728Ile) c.2156G>T (p.Ser719Ile) c.2075G>T (p.Ser692Ile) c.2060G>T (p.Ser687Ile) c.1667G>T (p.Ser556Ile) c.2129G>T (p.Ser710Ile) c.2063G>T (p.Ser688Ile) c.2021G>T (p.Ser674Ile) c.1094G>T (p.Ser365Ile) | gnomAD v4 |
20 | g.63407185C= | CA2374774474 | KCNQ2 | c.2132G= (p.Ser711=) c.2078G= (p.Ser693=) c.1475G= (p.Ser492=) c.1985G= (p.Ser662=) c.1646G= (p.Ser549=) c.1994G= (p.Ser665=) c.2102G= (p.Ser701=) c.2066G= (p.Ser689=) c.2024G= (p.Ser675=) c.1679+6265G= (n.1679+6265G=) c.2120G= (p.Ser707=) c.2186G= (p.Ser729=) c.2183G= (p.Ser728=) c.2156G= (p.Ser719=) c.2075G= (p.Ser692=) c.2060G= (p.Ser687=) c.1667G= (p.Ser556=) c.2129G= (p.Ser710=) c.2063G= (p.Ser688=) c.2021G= (p.Ser674=) c.1094G= (p.Ser365=) | |
20 | g.63407185C>G | CA409639042 | KCNQ2 | c.2132G>C (p.Ser711Thr) c.2078G>C (p.Ser693Thr) c.1475G>C (p.Ser492Thr) c.1985G>C (p.Ser662Thr) c.1646G>C (p.Ser549Thr) c.1994G>C (p.Ser665Thr) c.2102G>C (p.Ser701Thr) c.2066G>C (p.Ser689Thr) c.2024G>C (p.Ser675Thr) c.1679+6265G>C (n.1679+6265G>C) c.2120G>C (p.Ser707Thr) c.2186G>C (p.Ser729Thr) c.2183G>C (p.Ser728Thr) c.2156G>C (p.Ser719Thr) c.2075G>C (p.Ser692Thr) c.2060G>C (p.Ser687Thr) c.1667G>C (p.Ser556Thr) c.2129G>C (p.Ser710Thr) c.2063G>C (p.Ser688Thr) c.2021G>C (p.Ser674Thr) c.1094G>C (p.Ser365Thr) | |
20 | g.63407185C>T | CA409639041 | KCNQ2 | c.2132G>A (p.Ser711Asn) c.2078G>A (p.Ser693Asn) c.1475G>A (p.Ser492Asn) c.1985G>A (p.Ser662Asn) c.1646G>A (p.Ser549Asn) c.1994G>A (p.Ser665Asn) c.2102G>A (p.Ser701Asn) c.2066G>A (p.Ser689Asn) c.2024G>A (p.Ser675Asn) c.1679+6265G>A (n.1679+6265G>A) c.2120G>A (p.Ser707Asn) c.2186G>A (p.Ser729Asn) c.2183G>A (p.Ser728Asn) c.2156G>A (p.Ser719Asn) c.2075G>A (p.Ser692Asn) c.2060G>A (p.Ser687Asn) c.1667G>A (p.Ser556Asn) c.2129G>A (p.Ser710Asn) c.2063G>A (p.Ser688Asn) c.2021G>A (p.Ser674Asn) c.1094G>A (p.Ser365Asn) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407186del | CA2697547450 | KCNQ2 | c.2131del (p.Ser711AlafsTer?) c.2077del (p.Ser693AlafsTer?) c.1474del (p.Ser492AlafsTer?) c.1984del (p.Ser662AlafsTer?) c.1645del (p.Ser549AlafsTer?) c.1993del (p.Ser665AlafsTer?) c.2101del (p.Ser701AlafsTer?) c.2065del (p.Ser689AlafsTer?) c.2023del (p.Ser675AlafsTer?) c.1679+6264del (n.1679+6264del) c.2119del (p.Ser707AlafsTer?) c.2185del (p.Ser729AlafsTer?) c.2182del (p.Ser728AlafsTer?) c.2155del (p.Ser719AlafsTer?) c.2074del (p.Ser692AlafsTer?) c.2059del (p.Ser687AlafsTer?) c.1666del (p.Ser556AlafsTer?) c.2128del (p.Ser710AlafsTer?) c.2062del (p.Ser688AlafsTer?) c.2020del (p.Ser674AlafsTer?) c.1093del (p.Ser365AlafsTer?) | ClinVar |
20 | g.63407186T>A | CA409639043 | KCNQ2 | c.2131A>T (p.Ser711Cys) c.2077A>T (p.Ser693Cys) c.1474A>T (p.Ser492Cys) c.1984A>T (p.Ser662Cys) c.1645A>T (p.Ser549Cys) c.1993A>T (p.Ser665Cys) c.2101A>T (p.Ser701Cys) c.2065A>T (p.Ser689Cys) c.2023A>T (p.Ser675Cys) c.1679+6264A>T (n.1679+6264A>T) c.2119A>T (p.Ser707Cys) c.2185A>T (p.Ser729Cys) c.2182A>T (p.Ser728Cys) c.2155A>T (p.Ser719Cys) c.2074A>T (p.Ser692Cys) c.2059A>T (p.Ser687Cys) c.1666A>T (p.Ser556Cys) c.2128A>T (p.Ser710Cys) c.2062A>T (p.Ser688Cys) c.2020A>T (p.Ser674Cys) c.1093A>T (p.Ser365Cys) | |
20 | g.63407186T>C | CA409639045 | KCNQ2 | c.2131A>G (p.Ser711Gly) c.2077A>G (p.Ser693Gly) c.1474A>G (p.Ser492Gly) c.1984A>G (p.Ser662Gly) c.1645A>G (p.Ser549Gly) c.1993A>G (p.Ser665Gly) c.2101A>G (p.Ser701Gly) c.2065A>G (p.Ser689Gly) c.2023A>G (p.Ser675Gly) c.1679+6264A>G (n.1679+6264A>G) c.2119A>G (p.Ser707Gly) c.2185A>G (p.Ser729Gly) c.2182A>G (p.Ser728Gly) c.2155A>G (p.Ser719Gly) c.2074A>G (p.Ser692Gly) c.2059A>G (p.Ser687Gly) c.1666A>G (p.Ser556Gly) c.2128A>G (p.Ser710Gly) c.2062A>G (p.Ser688Gly) c.2020A>G (p.Ser674Gly) c.1093A>G (p.Ser365Gly) | dbSNP gnomAD v2 |
20 | g.63407186T>G | CA409639044 | KCNQ2 | c.2131A>C (p.Ser711Arg) c.2077A>C (p.Ser693Arg) c.1474A>C (p.Ser492Arg) c.1984A>C (p.Ser662Arg) c.1645A>C (p.Ser549Arg) c.1993A>C (p.Ser665Arg) c.2101A>C (p.Ser701Arg) c.2065A>C (p.Ser689Arg) c.2023A>C (p.Ser675Arg) c.1679+6264A>C (n.1679+6264A>C) c.2119A>C (p.Ser707Arg) c.2185A>C (p.Ser729Arg) c.2182A>C (p.Ser728Arg) c.2155A>C (p.Ser719Arg) c.2074A>C (p.Ser692Arg) c.2059A>C (p.Ser687Arg) c.1666A>C (p.Ser556Arg) c.2128A>C (p.Ser710Arg) c.2062A>C (p.Ser688Arg) c.2020A>C (p.Ser674Arg) c.1093A>C (p.Ser365Arg) | |
20 | g.63407186T= | CA2374774475 | KCNQ2 | c.2131A= (p.Ser711=) c.2077A= (p.Ser693=) c.1474A= (p.Ser492=) c.1984A= (p.Ser662=) c.1645A= (p.Ser549=) c.1993A= (p.Ser665=) c.2101A= (p.Ser701=) c.2065A= (p.Ser689=) c.2023A= (p.Ser675=) c.1679+6264A= (n.1679+6264A=) c.2119A= (p.Ser707=) c.2185A= (p.Ser729=) c.2182A= (p.Ser728=) c.2155A= (p.Ser719=) c.2074A= (p.Ser692=) c.2059A= (p.Ser687=) c.1666A= (p.Ser556=) c.2128A= (p.Ser710=) c.2062A= (p.Ser688=) c.2020A= (p.Ser674=) c.1093A= (p.Ser365=) | |
20 | g.63407187G>A | CA511339370 | KCNQ2 | c.2130C>T (p.Ser710=) c.2076C>T (p.Ser692=) c.1473C>T (p.Ser491=) c.1983C>T (p.Ser661=) c.1644C>T (p.Ser548=) c.1992C>T (p.Ser664=) c.2100C>T (p.Ser700=) c.2064C>T (p.Ser688=) c.2022C>T (p.Ser674=) c.1679+6263C>T (n.1679+6263C>T) c.2118C>T (p.Ser706=) c.2184C>T (p.Ser728=) c.2181C>T (p.Ser727=) c.2154C>T (p.Ser718=) c.2073C>T (p.Ser691=) c.2058C>T (p.Ser686=) c.1665C>T (p.Ser555=) c.2127C>T (p.Ser709=) c.2061C>T (p.Ser687=) c.2019C>T (p.Ser673=) c.1092C>T (p.Ser364=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407187G>C | CA511339371 | KCNQ2 | c.2130C>G (p.Ser710=) c.2076C>G (p.Ser692=) c.1473C>G (p.Ser491=) c.1983C>G (p.Ser661=) c.1644C>G (p.Ser548=) c.1992C>G (p.Ser664=) c.2100C>G (p.Ser700=) c.2064C>G (p.Ser688=) c.2022C>G (p.Ser674=) c.1679+6263C>G (n.1679+6263C>G) c.2118C>G (p.Ser706=) c.2184C>G (p.Ser728=) c.2181C>G (p.Ser727=) c.2154C>G (p.Ser718=) c.2073C>G (p.Ser691=) c.2058C>G (p.Ser686=) c.1665C>G (p.Ser555=) c.2127C>G (p.Ser709=) c.2061C>G (p.Ser687=) c.2019C>G (p.Ser673=) c.1092C>G (p.Ser364=) | |
20 | g.63407187G= | CA2374774476 | KCNQ2 | c.2130C= (p.Ser710=) c.2076C= (p.Ser692=) c.1473C= (p.Ser491=) c.1983C= (p.Ser661=) c.1644C= (p.Ser548=) c.1992C= (p.Ser664=) c.2100C= (p.Ser700=) c.2064C= (p.Ser688=) c.2022C= (p.Ser674=) c.1679+6263C= (n.1679+6263C=) c.2118C= (p.Ser706=) c.2184C= (p.Ser728=) c.2181C= (p.Ser727=) c.2154C= (p.Ser718=) c.2073C= (p.Ser691=) c.2058C= (p.Ser686=) c.1665C= (p.Ser555=) c.2127C= (p.Ser709=) c.2061C= (p.Ser687=) c.2019C= (p.Ser673=) c.1092C= (p.Ser364=) | |
20 | g.63407187G>T | CA511339375 | KCNQ2 | c.2130C>A (p.Ser710=) c.2076C>A (p.Ser692=) c.1473C>A (p.Ser491=) c.1983C>A (p.Ser661=) c.1644C>A (p.Ser548=) c.1992C>A (p.Ser664=) c.2100C>A (p.Ser700=) c.2064C>A (p.Ser688=) c.2022C>A (p.Ser674=) c.1679+6263C>A (n.1679+6263C>A) c.2118C>A (p.Ser706=) c.2184C>A (p.Ser728=) c.2181C>A (p.Ser727=) c.2154C>A (p.Ser718=) c.2073C>A (p.Ser691=) c.2058C>A (p.Ser686=) c.1665C>A (p.Ser555=) c.2127C>A (p.Ser709=) c.2061C>A (p.Ser687=) c.2019C>A (p.Ser673=) c.1092C>A (p.Ser364=) | gnomAD v4 |
20 | g.63407188G>A | CA409639046 | KCNQ2 | c.2129C>T (p.Ser710Phe) c.2075C>T (p.Ser692Phe) c.1472C>T (p.Ser491Phe) c.1982C>T (p.Ser661Phe) c.1643C>T (p.Ser548Phe) c.1991C>T (p.Ser664Phe) c.2099C>T (p.Ser700Phe) c.2063C>T (p.Ser688Phe) c.2021C>T (p.Ser674Phe) c.1679+6262C>T (n.1679+6262C>T) c.2117C>T (p.Ser706Phe) c.2183C>T (p.Ser728Phe) c.2180C>T (p.Ser727Phe) c.2153C>T (p.Ser718Phe) c.2072C>T (p.Ser691Phe) c.2057C>T (p.Ser686Phe) c.1664C>T (p.Ser555Phe) c.2126C>T (p.Ser709Phe) c.2060C>T (p.Ser687Phe) c.2018C>T (p.Ser673Phe) c.1091C>T (p.Ser364Phe) | gnomAD v4 |
20 | g.63407188G>C | CA409639047 | KCNQ2 | c.2129C>G (p.Ser710Cys) c.2075C>G (p.Ser692Cys) c.1472C>G (p.Ser491Cys) c.1982C>G (p.Ser661Cys) c.1643C>G (p.Ser548Cys) c.1991C>G (p.Ser664Cys) c.2099C>G (p.Ser700Cys) c.2063C>G (p.Ser688Cys) c.2021C>G (p.Ser674Cys) c.1679+6262C>G (n.1679+6262C>G) c.2117C>G (p.Ser706Cys) c.2183C>G (p.Ser728Cys) c.2180C>G (p.Ser727Cys) c.2153C>G (p.Ser718Cys) c.2072C>G (p.Ser691Cys) c.2057C>G (p.Ser686Cys) c.1664C>G (p.Ser555Cys) c.2126C>G (p.Ser709Cys) c.2060C>G (p.Ser687Cys) c.2018C>G (p.Ser673Cys) c.1091C>G (p.Ser364Cys) | |
20 | g.63407188G>T | CA409639048 | KCNQ2 | c.2129C>A (p.Ser710Tyr) c.2075C>A (p.Ser692Tyr) c.1472C>A (p.Ser491Tyr) c.1982C>A (p.Ser661Tyr) c.1643C>A (p.Ser548Tyr) c.1991C>A (p.Ser664Tyr) c.2099C>A (p.Ser700Tyr) c.2063C>A (p.Ser688Tyr) c.2021C>A (p.Ser674Tyr) c.1679+6262C>A (n.1679+6262C>A) c.2117C>A (p.Ser706Tyr) c.2183C>A (p.Ser728Tyr) c.2180C>A (p.Ser727Tyr) c.2153C>A (p.Ser718Tyr) c.2072C>A (p.Ser691Tyr) c.2057C>A (p.Ser686Tyr) c.1664C>A (p.Ser555Tyr) c.2126C>A (p.Ser709Tyr) c.2060C>A (p.Ser687Tyr) c.2018C>A (p.Ser673Tyr) c.1091C>A (p.Ser364Tyr) | gnomAD v4 |
20 | g.63407189A>C | CA409639049 | KCNQ2 | c.2128T>G (p.Ser710Ala) c.2074T>G (p.Ser692Ala) c.1471T>G (p.Ser491Ala) c.1981T>G (p.Ser661Ala) c.1642T>G (p.Ser548Ala) c.1990T>G (p.Ser664Ala) c.2098T>G (p.Ser700Ala) c.2062T>G (p.Ser688Ala) c.2020T>G (p.Ser674Ala) c.1679+6261T>G (n.1679+6261T>G) c.2116T>G (p.Ser706Ala) c.2182T>G (p.Ser728Ala) c.2179T>G (p.Ser727Ala) c.2152T>G (p.Ser718Ala) c.2071T>G (p.Ser691Ala) c.2056T>G (p.Ser686Ala) c.1663T>G (p.Ser555Ala) c.2125T>G (p.Ser709Ala) c.2059T>G (p.Ser687Ala) c.2017T>G (p.Ser673Ala) c.1090T>G (p.Ser364Ala) | |
20 | g.63407189A>G | CA409639050 | KCNQ2 | c.2128T>C (p.Ser710Pro) c.2074T>C (p.Ser692Pro) c.1471T>C (p.Ser491Pro) c.1981T>C (p.Ser661Pro) c.1642T>C (p.Ser548Pro) c.1990T>C (p.Ser664Pro) c.2098T>C (p.Ser700Pro) c.2062T>C (p.Ser688Pro) c.2020T>C (p.Ser674Pro) c.1679+6261T>C (n.1679+6261T>C) c.2116T>C (p.Ser706Pro) c.2182T>C (p.Ser728Pro) c.2179T>C (p.Ser727Pro) c.2152T>C (p.Ser718Pro) c.2071T>C (p.Ser691Pro) c.2056T>C (p.Ser686Pro) c.1663T>C (p.Ser555Pro) c.2125T>C (p.Ser709Pro) c.2059T>C (p.Ser687Pro) c.2017T>C (p.Ser673Pro) c.1090T>C (p.Ser364Pro) | |
20 | g.63407189A>T | CA409639051 | KCNQ2 | c.2128T>A (p.Ser710Thr) c.2074T>A (p.Ser692Thr) c.1471T>A (p.Ser491Thr) c.1981T>A (p.Ser661Thr) c.1642T>A (p.Ser548Thr) c.1990T>A (p.Ser664Thr) c.2098T>A (p.Ser700Thr) c.2062T>A (p.Ser688Thr) c.2020T>A (p.Ser674Thr) c.1679+6261T>A (n.1679+6261T>A) c.2116T>A (p.Ser706Thr) c.2182T>A (p.Ser728Thr) c.2179T>A (p.Ser727Thr) c.2152T>A (p.Ser718Thr) c.2071T>A (p.Ser691Thr) c.2056T>A (p.Ser686Thr) c.1663T>A (p.Ser555Thr) c.2125T>A (p.Ser709Thr) c.2059T>A (p.Ser687Thr) c.2017T>A (p.Ser673Thr) c.1090T>A (p.Ser364Thr) | gnomAD v4 |
20 | g.63407190G>A | CA511339380 | KCNQ2 | c.2127C>T (p.Arg709=) c.2073C>T (p.Arg691=) c.1470C>T (p.Arg490=) c.1980C>T (p.Arg660=) c.1641C>T (p.Arg547=) c.1989C>T (p.Arg663=) c.2097C>T (p.Arg699=) c.2061C>T (p.Arg687=) c.2019C>T (p.Arg673=) c.1679+6260C>T (n.1679+6260C>T) c.2115C>T (p.Arg705=) c.2181C>T (p.Arg727=) c.2178C>T (p.Arg726=) c.2151C>T (p.Arg717=) c.2070C>T (p.Arg690=) c.2055C>T (p.Arg685=) c.1662C>T (p.Arg554=) c.2124C>T (p.Arg708=) c.2058C>T (p.Arg686=) c.2016C>T (p.Arg672=) c.1089C>T (p.Arg363=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407190G>C | CA511339382 | KCNQ2 | c.2127C>G (p.Arg709=) c.2073C>G (p.Arg691=) c.1470C>G (p.Arg490=) c.1980C>G (p.Arg660=) c.1641C>G (p.Arg547=) c.1989C>G (p.Arg663=) c.2097C>G (p.Arg699=) c.2061C>G (p.Arg687=) c.2019C>G (p.Arg673=) c.1679+6260C>G (n.1679+6260C>G) c.2115C>G (p.Arg705=) c.2181C>G (p.Arg727=) c.2178C>G (p.Arg726=) c.2151C>G (p.Arg717=) c.2070C>G (p.Arg690=) c.2055C>G (p.Arg685=) c.1662C>G (p.Arg554=) c.2124C>G (p.Arg708=) c.2058C>G (p.Arg686=) c.2016C>G (p.Arg672=) c.1089C>G (p.Arg363=) | |
20 | g.63407190G= | CA2374774477 | KCNQ2 | c.2127C= (p.Arg709=) c.2073C= (p.Arg691=) c.1470C= (p.Arg490=) c.1980C= (p.Arg660=) c.1641C= (p.Arg547=) c.1989C= (p.Arg663=) c.2097C= (p.Arg699=) c.2061C= (p.Arg687=) c.2019C= (p.Arg673=) c.1679+6260C= (n.1679+6260C=) c.2115C= (p.Arg705=) c.2181C= (p.Arg727=) c.2178C= (p.Arg726=) c.2151C= (p.Arg717=) c.2070C= (p.Arg690=) c.2055C= (p.Arg685=) c.1662C= (p.Arg554=) c.2124C= (p.Arg708=) c.2058C= (p.Arg686=) c.2016C= (p.Arg672=) c.1089C= (p.Arg363=) | |
20 | g.63407190G>T | CA511339381 | KCNQ2 | c.2127C>A (p.Arg709=) c.2073C>A (p.Arg691=) c.1470C>A (p.Arg490=) c.1980C>A (p.Arg660=) c.1641C>A (p.Arg547=) c.1989C>A (p.Arg663=) c.2097C>A (p.Arg699=) c.2061C>A (p.Arg687=) c.2019C>A (p.Arg673=) c.1679+6260C>A (n.1679+6260C>A) c.2115C>A (p.Arg705=) c.2181C>A (p.Arg727=) c.2178C>A (p.Arg726=) c.2151C>A (p.Arg717=) c.2070C>A (p.Arg690=) c.2055C>A (p.Arg685=) c.1662C>A (p.Arg554=) c.2124C>A (p.Arg708=) c.2058C>A (p.Arg686=) c.2016C>A (p.Arg672=) c.1089C>A (p.Arg363=) | gnomAD v4 |
20 | g.63407191C>A | CA409639052 | KCNQ2 | c.2126G>T (p.Arg709Leu) c.2072G>T (p.Arg691Leu) c.1469G>T (p.Arg490Leu) c.1979G>T (p.Arg660Leu) c.1640G>T (p.Arg547Leu) c.1988G>T (p.Arg663Leu) c.2096G>T (p.Arg699Leu) c.2060G>T (p.Arg687Leu) c.2018G>T (p.Arg673Leu) c.1679+6259G>T (n.1679+6259G>T) c.2114G>T (p.Arg705Leu) c.2180G>T (p.Arg727Leu) c.2177G>T (p.Arg726Leu) c.2150G>T (p.Arg717Leu) c.2069G>T (p.Arg690Leu) c.2054G>T (p.Arg685Leu) c.1661G>T (p.Arg554Leu) c.2123G>T (p.Arg708Leu) c.2057G>T (p.Arg686Leu) c.2015G>T (p.Arg672Leu) c.1088G>T (p.Arg363Leu) | gnomAD v4 |
20 | g.63407191C= | CA2374774478 | KCNQ2 | c.2126G= (p.Arg709=) c.2072G= (p.Arg691=) c.1469G= (p.Arg490=) c.1979G= (p.Arg660=) c.1640G= (p.Arg547=) c.1988G= (p.Arg663=) c.2096G= (p.Arg699=) c.2060G= (p.Arg687=) c.2018G= (p.Arg673=) c.1679+6259G= (n.1679+6259G=) c.2114G= (p.Arg705=) c.2180G= (p.Arg727=) c.2177G= (p.Arg726=) c.2150G= (p.Arg717=) c.2069G= (p.Arg690=) c.2054G= (p.Arg685=) c.1661G= (p.Arg554=) c.2123G= (p.Arg708=) c.2057G= (p.Arg686=) c.2015G= (p.Arg672=) c.1088G= (p.Arg363=) | |
20 | g.63407191C>G | CA409639053 | KCNQ2 | c.2126G>C (p.Arg709Pro) c.2072G>C (p.Arg691Pro) c.1469G>C (p.Arg490Pro) c.1979G>C (p.Arg660Pro) c.1640G>C (p.Arg547Pro) c.1988G>C (p.Arg663Pro) c.2096G>C (p.Arg699Pro) c.2060G>C (p.Arg687Pro) c.2018G>C (p.Arg673Pro) c.1679+6259G>C (n.1679+6259G>C) c.2114G>C (p.Arg705Pro) c.2180G>C (p.Arg727Pro) c.2177G>C (p.Arg726Pro) c.2150G>C (p.Arg717Pro) c.2069G>C (p.Arg690Pro) c.2054G>C (p.Arg685Pro) c.1661G>C (p.Arg554Pro) c.2123G>C (p.Arg708Pro) c.2057G>C (p.Arg686Pro) c.2015G>C (p.Arg672Pro) c.1088G>C (p.Arg363Pro) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407191C>T | CA315520 | KCNQ2 | c.2126G>A (p.Arg709His) c.2072G>A (p.Arg691His) c.1469G>A (p.Arg490His) c.1979G>A (p.Arg660His) c.1640G>A (p.Arg547His) c.1988G>A (p.Arg663His) c.2096G>A (p.Arg699His) c.2060G>A (p.Arg687His) c.2018G>A (p.Arg673His) c.1679+6259G>A (n.1679+6259G>A) c.2114G>A (p.Arg705His) c.2180G>A (p.Arg727His) c.2177G>A (p.Arg726His) c.2150G>A (p.Arg717His) c.2069G>A (p.Arg690His) c.2054G>A (p.Arg685His) c.1661G>A (p.Arg554His) c.2123G>A (p.Arg708His) c.2057G>A (p.Arg686His) c.2015G>A (p.Arg672His) c.1088G>A (p.Arg363His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407192G>A | CA409639054 | KCNQ2 | c.2125C>T (p.Arg709Cys) c.2071C>T (p.Arg691Cys) c.1468C>T (p.Arg490Cys) c.1978C>T (p.Arg660Cys) c.1639C>T (p.Arg547Cys) c.1987C>T (p.Arg663Cys) c.2095C>T (p.Arg699Cys) c.2059C>T (p.Arg687Cys) c.2017C>T (p.Arg673Cys) c.1679+6258C>T (n.1679+6258C>T) c.2113C>T (p.Arg705Cys) c.2179C>T (p.Arg727Cys) c.2176C>T (p.Arg726Cys) c.2149C>T (p.Arg717Cys) c.2068C>T (p.Arg690Cys) c.2053C>T (p.Arg685Cys) c.1660C>T (p.Arg554Cys) c.2122C>T (p.Arg708Cys) c.2056C>T (p.Arg686Cys) c.2014C>T (p.Arg672Cys) c.1087C>T (p.Arg363Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407192G>C | CA409639055 | KCNQ2 | c.2125C>G (p.Arg709Gly) c.2071C>G (p.Arg691Gly) c.1468C>G (p.Arg490Gly) c.1978C>G (p.Arg660Gly) c.1639C>G (p.Arg547Gly) c.1987C>G (p.Arg663Gly) c.2095C>G (p.Arg699Gly) c.2059C>G (p.Arg687Gly) c.2017C>G (p.Arg673Gly) c.1679+6258C>G (n.1679+6258C>G) c.2113C>G (p.Arg705Gly) c.2179C>G (p.Arg727Gly) c.2176C>G (p.Arg726Gly) c.2149C>G (p.Arg717Gly) c.2068C>G (p.Arg690Gly) c.2053C>G (p.Arg685Gly) c.1660C>G (p.Arg554Gly) c.2122C>G (p.Arg708Gly) c.2056C>G (p.Arg686Gly) c.2014C>G (p.Arg672Gly) c.1087C>G (p.Arg363Gly) | |
20 | g.63407192G= | CA2374774479 | KCNQ2 | c.2125C= (p.Arg709=) c.2071C= (p.Arg691=) c.1468C= (p.Arg490=) c.1978C= (p.Arg660=) c.1639C= (p.Arg547=) c.1987C= (p.Arg663=) c.2095C= (p.Arg699=) c.2059C= (p.Arg687=) c.2017C= (p.Arg673=) c.1679+6258C= (n.1679+6258C=) c.2113C= (p.Arg705=) c.2179C= (p.Arg727=) c.2176C= (p.Arg726=) c.2149C= (p.Arg717=) c.2068C= (p.Arg690=) c.2053C= (p.Arg685=) c.1660C= (p.Arg554=) c.2122C= (p.Arg708=) c.2056C= (p.Arg686=) c.2014C= (p.Arg672=) c.1087C= (p.Arg363=) | |
20 | g.63407192G>T | CA409639056 | KCNQ2 | c.2125C>A (p.Arg709Ser) c.2071C>A (p.Arg691Ser) c.1468C>A (p.Arg490Ser) c.1978C>A (p.Arg660Ser) c.1639C>A (p.Arg547Ser) c.1987C>A (p.Arg663Ser) c.2095C>A (p.Arg699Ser) c.2059C>A (p.Arg687Ser) c.2017C>A (p.Arg673Ser) c.1679+6258C>A (n.1679+6258C>A) c.2113C>A (p.Arg705Ser) c.2179C>A (p.Arg727Ser) c.2176C>A (p.Arg726Ser) c.2149C>A (p.Arg717Ser) c.2068C>A (p.Arg690Ser) c.2053C>A (p.Arg685Ser) c.1660C>A (p.Arg554Ser) c.2122C>A (p.Arg708Ser) c.2056C>A (p.Arg686Ser) c.2014C>A (p.Arg672Ser) c.1087C>A (p.Arg363Ser) | gnomAD v4 |
20 | g.63407193C>A | CA511339385 | KCNQ2 | c.2124G>T (p.Val708=) c.2070G>T (p.Val690=) c.1467G>T (p.Val489=) c.1977G>T (p.Val659=) c.1638G>T (p.Val546=) c.1986G>T (p.Val662=) c.2094G>T (p.Val698=) c.2058G>T (p.Val686=) c.2016G>T (p.Val672=) c.1679+6257G>T (n.1679+6257G>T) c.2112G>T (p.Val704=) c.2178G>T (p.Val726=) c.2175G>T (p.Val725=) c.2148G>T (p.Val716=) c.2067G>T (p.Val689=) c.2052G>T (p.Val684=) c.1659G>T (p.Val553=) c.2121G>T (p.Val707=) c.2055G>T (p.Val685=) c.2013G>T (p.Val671=) c.1086G>T (p.Val362=) | |
20 | g.63407193C>G | CA511339388 | KCNQ2 | c.2124G>C (p.Val708=) c.2070G>C (p.Val690=) c.1467G>C (p.Val489=) c.1977G>C (p.Val659=) c.1638G>C (p.Val546=) c.1986G>C (p.Val662=) c.2094G>C (p.Val698=) c.2058G>C (p.Val686=) c.2016G>C (p.Val672=) c.1679+6257G>C (n.1679+6257G>C) c.2112G>C (p.Val704=) c.2178G>C (p.Val726=) c.2175G>C (p.Val725=) c.2148G>C (p.Val716=) c.2067G>C (p.Val689=) c.2052G>C (p.Val684=) c.1659G>C (p.Val553=) c.2121G>C (p.Val707=) c.2055G>C (p.Val685=) c.2013G>C (p.Val671=) c.1086G>C (p.Val362=) | |
20 | g.63407193C>T | CA511339389 | KCNQ2 | c.2124G>A (p.Val708=) c.2070G>A (p.Val690=) c.1467G>A (p.Val489=) c.1977G>A (p.Val659=) c.1638G>A (p.Val546=) c.1986G>A (p.Val662=) c.2094G>A (p.Val698=) c.2058G>A (p.Val686=) c.2016G>A (p.Val672=) c.1679+6257G>A (n.1679+6257G>A) c.2112G>A (p.Val704=) c.2178G>A (p.Val726=) c.2175G>A (p.Val725=) c.2148G>A (p.Val716=) c.2067G>A (p.Val689=) c.2052G>A (p.Val684=) c.1659G>A (p.Val553=) c.2121G>A (p.Val707=) c.2055G>A (p.Val685=) c.2013G>A (p.Val671=) c.1086G>A (p.Val362=) | |
20 | g.63407194A>C | CA409639057 | KCNQ2 | c.2123T>G (p.Val708Gly) c.2069T>G (p.Val690Gly) c.1466T>G (p.Val489Gly) c.1976T>G (p.Val659Gly) c.1637T>G (p.Val546Gly) c.1985T>G (p.Val662Gly) c.2093T>G (p.Val698Gly) c.2057T>G (p.Val686Gly) c.2015T>G (p.Val672Gly) c.1679+6256T>G (n.1679+6256T>G) c.2111T>G (p.Val704Gly) c.2177T>G (p.Val726Gly) c.2174T>G (p.Val725Gly) c.2147T>G (p.Val716Gly) c.2066T>G (p.Val689Gly) c.2051T>G (p.Val684Gly) c.1658T>G (p.Val553Gly) c.2120T>G (p.Val707Gly) c.2054T>G (p.Val685Gly) c.2012T>G (p.Val671Gly) c.1085T>G (p.Val362Gly) | |
20 | g.63407194A>G | CA409639059 | KCNQ2 | c.2123T>C (p.Val708Ala) c.2069T>C (p.Val690Ala) c.1466T>C (p.Val489Ala) c.1976T>C (p.Val659Ala) c.1637T>C (p.Val546Ala) c.1985T>C (p.Val662Ala) c.2093T>C (p.Val698Ala) c.2057T>C (p.Val686Ala) c.2015T>C (p.Val672Ala) c.1679+6256T>C (n.1679+6256T>C) c.2111T>C (p.Val704Ala) c.2177T>C (p.Val726Ala) c.2174T>C (p.Val725Ala) c.2147T>C (p.Val716Ala) c.2066T>C (p.Val689Ala) c.2051T>C (p.Val684Ala) c.1658T>C (p.Val553Ala) c.2120T>C (p.Val707Ala) c.2054T>C (p.Val685Ala) c.2012T>C (p.Val671Ala) c.1085T>C (p.Val362Ala) | gnomAD v4 |
20 | g.63407194A>T | CA409639058 | KCNQ2 | c.2123T>A (p.Val708Glu) c.2069T>A (p.Val690Glu) c.1466T>A (p.Val489Glu) c.1976T>A (p.Val659Glu) c.1637T>A (p.Val546Glu) c.1985T>A (p.Val662Glu) c.2093T>A (p.Val698Glu) c.2057T>A (p.Val686Glu) c.2015T>A (p.Val672Glu) c.1679+6256T>A (n.1679+6256T>A) c.2111T>A (p.Val704Glu) c.2177T>A (p.Val726Glu) c.2174T>A (p.Val725Glu) c.2147T>A (p.Val716Glu) c.2066T>A (p.Val689Glu) c.2051T>A (p.Val684Glu) c.1658T>A (p.Val553Glu) c.2120T>A (p.Val707Glu) c.2054T>A (p.Val685Glu) c.2012T>A (p.Val671Glu) c.1085T>A (p.Val362Glu) | |
20 | g.63407194_63407195delinsAC | CA2374774480 | KCNQ2 | c.2122_2123delinsGT (p.Val708=) c.2068_2069delinsGT (p.Val690=) c.1465_1466delinsGT (p.Val489=) c.1975_1976delinsGT (p.Val659=) c.1636_1637delinsGT (p.Val546=) c.1984_1985delinsGT (p.Val662=) c.2092_2093delinsGT (p.Val698=) c.2056_2057delinsGT (p.Val686=) c.2014_2015delinsGT (p.Val672=) c.1679+6255_1679+6256delinsGT (n.1679+6255_1679+6256delinsGT) c.2110_2111delinsGT (p.Val704=) c.2176_2177delinsGT (p.Val726=) c.2173_2174delinsGT (p.Val725=) c.2146_2147delinsGT (p.Val716=) c.2065_2066delinsGT (p.Val689=) c.2050_2051delinsGT (p.Val684=) c.1657_1658delinsGT (p.Val553=) c.2119_2120delinsGT (p.Val707=) c.2053_2054delinsGT (p.Val685=) c.2011_2012delinsGT (p.Val671=) c.1084_1085delinsGT (p.Val362=) | |
20 | g.63407195del | CA916083761 | KCNQ2 | c.2122del (p.Val708CysfsTer?) c.2068del (p.Val690CysfsTer?) c.1465del (p.Val489CysfsTer?) c.1975del (p.Val659CysfsTer?) c.1636del (p.Val546CysfsTer?) c.1984del (p.Val662CysfsTer?) c.2092del (p.Val698CysfsTer?) c.2056del (p.Val686CysfsTer?) c.2014del (p.Val672CysfsTer?) c.1679+6255del (n.1679+6255del) c.2110del (p.Val704CysfsTer?) c.2176del (p.Val726CysfsTer?) c.2173del (p.Val725CysfsTer?) c.2146del (p.Val716CysfsTer?) c.2065del (p.Val689CysfsTer?) c.2050del (p.Val684CysfsTer?) c.1657del (p.Val553CysfsTer?) c.2119del (p.Val707CysfsTer?) c.2053del (p.Val685CysfsTer?) c.2011del (p.Val671CysfsTer?) c.1084del (p.Val362CysfsTer?) | ClinVar dbSNP |
20 | g.63407195C>A | CA409639060 | KCNQ2 | c.2122G>T (p.Val708Leu) c.2068G>T (p.Val690Leu) c.1465G>T (p.Val489Leu) c.1975G>T (p.Val659Leu) c.1636G>T (p.Val546Leu) c.1984G>T (p.Val662Leu) c.2092G>T (p.Val698Leu) c.2056G>T (p.Val686Leu) c.2014G>T (p.Val672Leu) c.1679+6255G>T (n.1679+6255G>T) c.2110G>T (p.Val704Leu) c.2176G>T (p.Val726Leu) c.2173G>T (p.Val725Leu) c.2146G>T (p.Val716Leu) c.2065G>T (p.Val689Leu) c.2050G>T (p.Val684Leu) c.1657G>T (p.Val553Leu) c.2119G>T (p.Val707Leu) c.2053G>T (p.Val685Leu) c.2011G>T (p.Val671Leu) c.1084G>T (p.Val362Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407195C= | CA2374774481 | KCNQ2 | c.2122G= (p.Val708=) c.2068G= (p.Val690=) c.1465G= (p.Val489=) c.1975G= (p.Val659=) c.1636G= (p.Val546=) c.1984G= (p.Val662=) c.2092G= (p.Val698=) c.2056G= (p.Val686=) c.2014G= (p.Val672=) c.1679+6255G= (n.1679+6255G=) c.2110G= (p.Val704=) c.2176G= (p.Val726=) c.2173G= (p.Val725=) c.2146G= (p.Val716=) c.2065G= (p.Val689=) c.2050G= (p.Val684=) c.1657G= (p.Val553=) c.2119G= (p.Val707=) c.2053G= (p.Val685=) c.2011G= (p.Val671=) c.1084G= (p.Val362=) | |
20 | g.63407195C>G | CA409639061 | KCNQ2 | c.2122G>C (p.Val708Leu) c.2068G>C (p.Val690Leu) c.1465G>C (p.Val489Leu) c.1975G>C (p.Val659Leu) c.1636G>C (p.Val546Leu) c.1984G>C (p.Val662Leu) c.2092G>C (p.Val698Leu) c.2056G>C (p.Val686Leu) c.2014G>C (p.Val672Leu) c.1679+6255G>C (n.1679+6255G>C) c.2110G>C (p.Val704Leu) c.2176G>C (p.Val726Leu) c.2173G>C (p.Val725Leu) c.2146G>C (p.Val716Leu) c.2065G>C (p.Val689Leu) c.2050G>C (p.Val684Leu) c.1657G>C (p.Val553Leu) c.2119G>C (p.Val707Leu) c.2053G>C (p.Val685Leu) c.2011G>C (p.Val671Leu) c.1084G>C (p.Val362Leu) | |
20 | g.63407195C>T | CA9958158 | KCNQ2 | c.2122G>A (p.Val708Met) c.2068G>A (p.Val690Met) c.1465G>A (p.Val489Met) c.1975G>A (p.Val659Met) c.1636G>A (p.Val546Met) c.1984G>A (p.Val662Met) c.2092G>A (p.Val698Met) c.2056G>A (p.Val686Met) c.2014G>A (p.Val672Met) c.1679+6255G>A (n.1679+6255G>A) c.2110G>A (p.Val704Met) c.2176G>A (p.Val726Met) c.2173G>A (p.Val725Met) c.2146G>A (p.Val716Met) c.2065G>A (p.Val689Met) c.2050G>A (p.Val684Met) c.1657G>A (p.Val553Met) c.2119G>A (p.Val707Met) c.2053G>A (p.Val685Met) c.2011G>A (p.Val671Met) c.1084G>A (p.Val362Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407196G>A | CA317422350 | KCNQ2 | c.2121C>T (p.Ile707=) c.2067C>T (p.Ile689=) c.1464C>T (p.Ile488=) c.1974C>T (p.Ile658=) c.1635C>T (p.Ile545=) c.1983C>T (p.Ile661=) c.2091C>T (p.Ile697=) c.2055C>T (p.Ile685=) c.2013C>T (p.Ile671=) c.1679+6254C>T (n.1679+6254C>T) c.2109C>T (p.Ile703=) c.2175C>T (p.Ile725=) c.2172C>T (p.Ile724=) c.2145C>T (p.Ile715=) c.2064C>T (p.Ile688=) c.2049C>T (p.Ile683=) c.1656C>T (p.Ile552=) c.2118C>T (p.Ile706=) c.2052C>T (p.Ile684=) c.2010C>T (p.Ile670=) c.1083C>T (p.Ile361=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407196G>C | CA9958159 | KCNQ2 | c.2121C>G (p.Ile707Met) c.2067C>G (p.Ile689Met) c.1464C>G (p.Ile488Met) c.1974C>G (p.Ile658Met) c.1635C>G (p.Ile545Met) c.1983C>G (p.Ile661Met) c.2091C>G (p.Ile697Met) c.2055C>G (p.Ile685Met) c.2013C>G (p.Ile671Met) c.1679+6254C>G (n.1679+6254C>G) c.2109C>G (p.Ile703Met) c.2175C>G (p.Ile725Met) c.2172C>G (p.Ile724Met) c.2145C>G (p.Ile715Met) c.2064C>G (p.Ile688Met) c.2049C>G (p.Ile683Met) c.1656C>G (p.Ile552Met) c.2118C>G (p.Ile706Met) c.2052C>G (p.Ile684Met) c.2010C>G (p.Ile670Met) c.1083C>G (p.Ile361Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407196G= | CA2374774482 | KCNQ2 | c.2121C= (p.Ile707=) c.2067C= (p.Ile689=) c.1464C= (p.Ile488=) c.1974C= (p.Ile658=) c.1635C= (p.Ile545=) c.1983C= (p.Ile661=) c.2091C= (p.Ile697=) c.2055C= (p.Ile685=) c.2013C= (p.Ile671=) c.1679+6254C= (n.1679+6254C=) c.2109C= (p.Ile703=) c.2175C= (p.Ile725=) c.2172C= (p.Ile724=) c.2145C= (p.Ile715=) c.2064C= (p.Ile688=) c.2049C= (p.Ile683=) c.1656C= (p.Ile552=) c.2118C= (p.Ile706=) c.2052C= (p.Ile684=) c.2010C= (p.Ile670=) c.1083C= (p.Ile361=) | |
20 | g.63407196G>T | CA511339393 | KCNQ2 | c.2121C>A (p.Ile707=) c.2067C>A (p.Ile689=) c.1464C>A (p.Ile488=) c.1974C>A (p.Ile658=) c.1635C>A (p.Ile545=) c.1983C>A (p.Ile661=) c.2091C>A (p.Ile697=) c.2055C>A (p.Ile685=) c.2013C>A (p.Ile671=) c.1679+6254C>A (n.1679+6254C>A) c.2109C>A (p.Ile703=) c.2175C>A (p.Ile725=) c.2172C>A (p.Ile724=) c.2145C>A (p.Ile715=) c.2064C>A (p.Ile688=) c.2049C>A (p.Ile683=) c.1656C>A (p.Ile552=) c.2118C>A (p.Ile706=) c.2052C>A (p.Ile684=) c.2010C>A (p.Ile670=) c.1083C>A (p.Ile361=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407197A>C | CA409639062 | KCNQ2 | c.2120T>G (p.Ile707Ser) c.2066T>G (p.Ile689Ser) c.1463T>G (p.Ile488Ser) c.1973T>G (p.Ile658Ser) c.1634T>G (p.Ile545Ser) c.1982T>G (p.Ile661Ser) c.2090T>G (p.Ile697Ser) c.2054T>G (p.Ile685Ser) c.2012T>G (p.Ile671Ser) c.1679+6253T>G (n.1679+6253T>G) c.2108T>G (p.Ile703Ser) c.2174T>G (p.Ile725Ser) c.2171T>G (p.Ile724Ser) c.2144T>G (p.Ile715Ser) c.2063T>G (p.Ile688Ser) c.2048T>G (p.Ile683Ser) c.1655T>G (p.Ile552Ser) c.2117T>G (p.Ile706Ser) c.2051T>G (p.Ile684Ser) c.2009T>G (p.Ile670Ser) c.1082T>G (p.Ile361Ser) | |
20 | g.63407197A>G | CA409639063 | KCNQ2 | c.2120T>C (p.Ile707Thr) c.2066T>C (p.Ile689Thr) c.1463T>C (p.Ile488Thr) c.1973T>C (p.Ile658Thr) c.1634T>C (p.Ile545Thr) c.1982T>C (p.Ile661Thr) c.2090T>C (p.Ile697Thr) c.2054T>C (p.Ile685Thr) c.2012T>C (p.Ile671Thr) c.1679+6253T>C (n.1679+6253T>C) c.2108T>C (p.Ile703Thr) c.2174T>C (p.Ile725Thr) c.2171T>C (p.Ile724Thr) c.2144T>C (p.Ile715Thr) c.2063T>C (p.Ile688Thr) c.2048T>C (p.Ile683Thr) c.1655T>C (p.Ile552Thr) c.2117T>C (p.Ile706Thr) c.2051T>C (p.Ile684Thr) c.2009T>C (p.Ile670Thr) c.1082T>C (p.Ile361Thr) | |
20 | g.63407197A>T | CA409639064 | KCNQ2 | c.2120T>A (p.Ile707Asn) c.2066T>A (p.Ile689Asn) c.1463T>A (p.Ile488Asn) c.1973T>A (p.Ile658Asn) c.1634T>A (p.Ile545Asn) c.1982T>A (p.Ile661Asn) c.2090T>A (p.Ile697Asn) c.2054T>A (p.Ile685Asn) c.2012T>A (p.Ile671Asn) c.1679+6253T>A (n.1679+6253T>A) c.2108T>A (p.Ile703Asn) c.2174T>A (p.Ile725Asn) c.2171T>A (p.Ile724Asn) c.2144T>A (p.Ile715Asn) c.2063T>A (p.Ile688Asn) c.2048T>A (p.Ile683Asn) c.1655T>A (p.Ile552Asn) c.2117T>A (p.Ile706Asn) c.2051T>A (p.Ile684Asn) c.2009T>A (p.Ile670Asn) c.1082T>A (p.Ile361Asn) | |
20 | g.63407198T>A | CA409639065 | KCNQ2 | c.2119A>T (p.Ile707Phe) c.2065A>T (p.Ile689Phe) c.1462A>T (p.Ile488Phe) c.1972A>T (p.Ile658Phe) c.1633A>T (p.Ile545Phe) c.1981A>T (p.Ile661Phe) c.2089A>T (p.Ile697Phe) c.2053A>T (p.Ile685Phe) c.2011A>T (p.Ile671Phe) c.1679+6252A>T (n.1679+6252A>T) c.2107A>T (p.Ile703Phe) c.2173A>T (p.Ile725Phe) c.2170A>T (p.Ile724Phe) c.2143A>T (p.Ile715Phe) c.2062A>T (p.Ile688Phe) c.2047A>T (p.Ile683Phe) c.1654A>T (p.Ile552Phe) c.2116A>T (p.Ile706Phe) c.2050A>T (p.Ile684Phe) c.2008A>T (p.Ile670Phe) c.1081A>T (p.Ile361Phe) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407198T>C | CA409639066 | KCNQ2 | c.2119A>G (p.Ile707Val) c.2065A>G (p.Ile689Val) c.1462A>G (p.Ile488Val) c.1972A>G (p.Ile658Val) c.1633A>G (p.Ile545Val) c.1981A>G (p.Ile661Val) c.2089A>G (p.Ile697Val) c.2053A>G (p.Ile685Val) c.2011A>G (p.Ile671Val) c.1679+6252A>G (n.1679+6252A>G) c.2107A>G (p.Ile703Val) c.2173A>G (p.Ile725Val) c.2170A>G (p.Ile724Val) c.2143A>G (p.Ile715Val) c.2062A>G (p.Ile688Val) c.2047A>G (p.Ile683Val) c.1654A>G (p.Ile552Val) c.2116A>G (p.Ile706Val) c.2050A>G (p.Ile684Val) c.2008A>G (p.Ile670Val) c.1081A>G (p.Ile361Val) | gnomAD v4 |
20 | g.63407198T>G | CA315312 | KCNQ2 | c.2119A>C (p.Ile707Leu) c.2065A>C (p.Ile689Leu) c.1462A>C (p.Ile488Leu) c.1972A>C (p.Ile658Leu) c.1633A>C (p.Ile545Leu) c.1981A>C (p.Ile661Leu) c.2089A>C (p.Ile697Leu) c.2053A>C (p.Ile685Leu) c.2011A>C (p.Ile671Leu) c.1679+6252A>C (n.1679+6252A>C) c.2107A>C (p.Ile703Leu) c.2173A>C (p.Ile725Leu) c.2170A>C (p.Ile724Leu) c.2143A>C (p.Ile715Leu) c.2062A>C (p.Ile688Leu) c.2047A>C (p.Ile683Leu) c.1654A>C (p.Ile552Leu) c.2116A>C (p.Ile706Leu) c.2050A>C (p.Ile684Leu) c.2008A>C (p.Ile670Leu) c.1081A>C (p.Ile361Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407198T= | CA2374774483 | KCNQ2 | c.2119A= (p.Ile707=) c.2065A= (p.Ile689=) c.1462A= (p.Ile488=) c.1972A= (p.Ile658=) c.1633A= (p.Ile545=) c.1981A= (p.Ile661=) c.2089A= (p.Ile697=) c.2053A= (p.Ile685=) c.2011A= (p.Ile671=) c.1679+6252A= (n.1679+6252A=) c.2107A= (p.Ile703=) c.2173A= (p.Ile725=) c.2170A= (p.Ile724=) c.2143A= (p.Ile715=) c.2062A= (p.Ile688=) c.2047A= (p.Ile683=) c.1654A= (p.Ile552=) c.2116A= (p.Ile706=) c.2050A= (p.Ile684=) c.2008A= (p.Ile670=) c.1081A= (p.Ile361=) | |
20 | g.63407199C>A | CA409639068 | KCNQ2 | c.2118G>T (p.Lys706Asn) c.2064G>T (p.Lys688Asn) c.1461G>T (p.Lys487Asn) c.1971G>T (p.Lys657Asn) c.1632G>T (p.Lys544Asn) c.1980G>T (p.Lys660Asn) c.2088G>T (p.Lys696Asn) c.2052G>T (p.Lys684Asn) c.2010G>T (p.Lys670Asn) c.1679+6251G>T (n.1679+6251G>T) c.2106G>T (p.Lys702Asn) c.2172G>T (p.Lys724Asn) c.2169G>T (p.Lys723Asn) c.2142G>T (p.Lys714Asn) c.2061G>T (p.Lys687Asn) c.2046G>T (p.Lys682Asn) c.1653G>T (p.Lys551Asn) c.2115G>T (p.Lys705Asn) c.2049G>T (p.Lys683Asn) c.2007G>T (p.Lys669Asn) c.1080G>T (p.Lys360Asn) | |
20 | g.63407199C= | CA2374774484 | KCNQ2 | c.2118G= (p.Lys706=) c.2064G= (p.Lys688=) c.1461G= (p.Lys487=) c.1971G= (p.Lys657=) c.1632G= (p.Lys544=) c.1980G= (p.Lys660=) c.2088G= (p.Lys696=) c.2052G= (p.Lys684=) c.2010G= (p.Lys670=) c.1679+6251G= (n.1679+6251G=) c.2106G= (p.Lys702=) c.2172G= (p.Lys724=) c.2169G= (p.Lys723=) c.2142G= (p.Lys714=) c.2061G= (p.Lys687=) c.2046G= (p.Lys682=) c.1653G= (p.Lys551=) c.2115G= (p.Lys705=) c.2049G= (p.Lys683=) c.2007G= (p.Lys669=) c.1080G= (p.Lys360=) | |
20 | g.63407199C>G | CA409639067 | KCNQ2 | c.2118G>C (p.Lys706Asn) c.2064G>C (p.Lys688Asn) c.1461G>C (p.Lys487Asn) c.1971G>C (p.Lys657Asn) c.1632G>C (p.Lys544Asn) c.1980G>C (p.Lys660Asn) c.2088G>C (p.Lys696Asn) c.2052G>C (p.Lys684Asn) c.2010G>C (p.Lys670Asn) c.1679+6251G>C (n.1679+6251G>C) c.2106G>C (p.Lys702Asn) c.2172G>C (p.Lys724Asn) c.2169G>C (p.Lys723Asn) c.2142G>C (p.Lys714Asn) c.2061G>C (p.Lys687Asn) c.2046G>C (p.Lys682Asn) c.1653G>C (p.Lys551Asn) c.2115G>C (p.Lys705Asn) c.2049G>C (p.Lys683Asn) c.2007G>C (p.Lys669Asn) c.1080G>C (p.Lys360Asn) | |
20 | g.63407199C>T | CA511339397 | KCNQ2 | c.2118G>A (p.Lys706=) c.2064G>A (p.Lys688=) c.1461G>A (p.Lys487=) c.1971G>A (p.Lys657=) c.1632G>A (p.Lys544=) c.1980G>A (p.Lys660=) c.2088G>A (p.Lys696=) c.2052G>A (p.Lys684=) c.2010G>A (p.Lys670=) c.1679+6251G>A (n.1679+6251G>A) c.2106G>A (p.Lys702=) c.2172G>A (p.Lys724=) c.2169G>A (p.Lys723=) c.2142G>A (p.Lys714=) c.2061G>A (p.Lys687=) c.2046G>A (p.Lys682=) c.1653G>A (p.Lys551=) c.2115G>A (p.Lys705=) c.2049G>A (p.Lys683=) c.2007G>A (p.Lys669=) c.1080G>A (p.Lys360=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407200T>A | CA409639069 | KCNQ2 | c.2117A>T (p.Lys706Met) c.2063A>T (p.Lys688Met) c.1460A>T (p.Lys487Met) c.1970A>T (p.Lys657Met) c.1631A>T (p.Lys544Met) c.1979A>T (p.Lys660Met) c.2087A>T (p.Lys696Met) c.2051A>T (p.Lys684Met) c.2009A>T (p.Lys670Met) c.1679+6250A>T (n.1679+6250A>T) c.2105A>T (p.Lys702Met) c.2171A>T (p.Lys724Met) c.2168A>T (p.Lys723Met) c.2141A>T (p.Lys714Met) c.2060A>T (p.Lys687Met) c.2045A>T (p.Lys682Met) c.1652A>T (p.Lys551Met) c.2114A>T (p.Lys705Met) c.2048A>T (p.Lys683Met) c.2006A>T (p.Lys669Met) c.1079A>T (p.Lys360Met) | |
20 | g.63407200T>C | CA409639070 | KCNQ2 | c.2117A>G (p.Lys706Arg) c.2063A>G (p.Lys688Arg) c.1460A>G (p.Lys487Arg) c.1970A>G (p.Lys657Arg) c.1631A>G (p.Lys544Arg) c.1979A>G (p.Lys660Arg) c.2087A>G (p.Lys696Arg) c.2051A>G (p.Lys684Arg) c.2009A>G (p.Lys670Arg) c.1679+6250A>G (n.1679+6250A>G) c.2105A>G (p.Lys702Arg) c.2171A>G (p.Lys724Arg) c.2168A>G (p.Lys723Arg) c.2141A>G (p.Lys714Arg) c.2060A>G (p.Lys687Arg) c.2045A>G (p.Lys682Arg) c.1652A>G (p.Lys551Arg) c.2114A>G (p.Lys705Arg) c.2048A>G (p.Lys683Arg) c.2006A>G (p.Lys669Arg) c.1079A>G (p.Lys360Arg) | |
20 | g.63407200T>G | CA409639071 | KCNQ2 | c.2117A>C (p.Lys706Thr) c.2063A>C (p.Lys688Thr) c.1460A>C (p.Lys487Thr) c.1970A>C (p.Lys657Thr) c.1631A>C (p.Lys544Thr) c.1979A>C (p.Lys660Thr) c.2087A>C (p.Lys696Thr) c.2051A>C (p.Lys684Thr) c.2009A>C (p.Lys670Thr) c.1679+6250A>C (n.1679+6250A>C) c.2105A>C (p.Lys702Thr) c.2171A>C (p.Lys724Thr) c.2168A>C (p.Lys723Thr) c.2141A>C (p.Lys714Thr) c.2060A>C (p.Lys687Thr) c.2045A>C (p.Lys682Thr) c.1652A>C (p.Lys551Thr) c.2114A>C (p.Lys705Thr) c.2048A>C (p.Lys683Thr) c.2006A>C (p.Lys669Thr) c.1079A>C (p.Lys360Thr) | |
20 | g.63407201T>A | CA409639072 | KCNQ2 | c.2116A>T (p.Lys706Ter) c.2062A>T (p.Lys688Ter) c.1459A>T (p.Lys487Ter) c.1969A>T (p.Lys657Ter) c.1630A>T (p.Lys544Ter) c.1978A>T (p.Lys660Ter) c.2086A>T (p.Lys696Ter) c.2050A>T (p.Lys684Ter) c.2008A>T (p.Lys670Ter) c.1679+6249A>T (n.1679+6249A>T) c.2104A>T (p.Lys702Ter) c.2170A>T (p.Lys724Ter) c.2167A>T (p.Lys723Ter) c.2140A>T (p.Lys714Ter) c.2059A>T (p.Lys687Ter) c.2044A>T (p.Lys682Ter) c.1651A>T (p.Lys551Ter) c.2113A>T (p.Lys705Ter) c.2047A>T (p.Lys683Ter) c.2005A>T (p.Lys669Ter) c.1078A>T (p.Lys360Ter) | |
20 | g.63407201T>C | CA409639073 | KCNQ2 | c.2116A>G (p.Lys706Glu) c.2062A>G (p.Lys688Glu) c.1459A>G (p.Lys487Glu) c.1969A>G (p.Lys657Glu) c.1630A>G (p.Lys544Glu) c.1978A>G (p.Lys660Glu) c.2086A>G (p.Lys696Glu) c.2050A>G (p.Lys684Glu) c.2008A>G (p.Lys670Glu) c.1679+6249A>G (n.1679+6249A>G) c.2104A>G (p.Lys702Glu) c.2170A>G (p.Lys724Glu) c.2167A>G (p.Lys723Glu) c.2140A>G (p.Lys714Glu) c.2059A>G (p.Lys687Glu) c.2044A>G (p.Lys682Glu) c.1651A>G (p.Lys551Glu) c.2113A>G (p.Lys705Glu) c.2047A>G (p.Lys683Glu) c.2005A>G (p.Lys669Glu) c.1078A>G (p.Lys360Glu) | gnomAD v4 |
20 | g.63407201T>G | CA409639074 | KCNQ2 | c.2116A>C (p.Lys706Gln) c.2062A>C (p.Lys688Gln) c.1459A>C (p.Lys487Gln) c.1969A>C (p.Lys657Gln) c.1630A>C (p.Lys544Gln) c.1978A>C (p.Lys660Gln) c.2086A>C (p.Lys696Gln) c.2050A>C (p.Lys684Gln) c.2008A>C (p.Lys670Gln) c.1679+6249A>C (n.1679+6249A>C) c.2104A>C (p.Lys702Gln) c.2170A>C (p.Lys724Gln) c.2167A>C (p.Lys723Gln) c.2140A>C (p.Lys714Gln) c.2059A>C (p.Lys687Gln) c.2044A>C (p.Lys682Gln) c.1651A>C (p.Lys551Gln) c.2113A>C (p.Lys705Gln) c.2047A>C (p.Lys683Gln) c.2005A>C (p.Lys669Gln) c.1078A>C (p.Lys360Gln) | |
20 | g.63407202G>A | CA317422366 | KCNQ2 | c.2115C>T (p.Val705=) c.2061C>T (p.Val687=) c.1458C>T (p.Val486=) c.1968C>T (p.Val656=) c.1629C>T (p.Val543=) c.1977C>T (p.Val659=) c.2085C>T (p.Val695=) c.2049C>T (p.Val683=) c.2007C>T (p.Val669=) c.1679+6248C>T (n.1679+6248C>T) c.2103C>T (p.Val701=) c.2169C>T (p.Val723=) c.2166C>T (p.Val722=) c.2139C>T (p.Val713=) c.2058C>T (p.Val686=) c.2043C>T (p.Val681=) c.1650C>T (p.Val550=) c.2112C>T (p.Val704=) c.2046C>T (p.Val682=) c.2004C>T (p.Val668=) c.1077C>T (p.Val359=) | ClinVar dbSNP gnomAD v4 |
20 | g.63407202G>C | CA511339405 | KCNQ2 | c.2115C>G (p.Val705=) c.2061C>G (p.Val687=) c.1458C>G (p.Val486=) c.1968C>G (p.Val656=) c.1629C>G (p.Val543=) c.1977C>G (p.Val659=) c.2085C>G (p.Val695=) c.2049C>G (p.Val683=) c.2007C>G (p.Val669=) c.1679+6248C>G (n.1679+6248C>G) c.2103C>G (p.Val701=) c.2169C>G (p.Val723=) c.2166C>G (p.Val722=) c.2139C>G (p.Val713=) c.2058C>G (p.Val686=) c.2043C>G (p.Val681=) c.1650C>G (p.Val550=) c.2112C>G (p.Val704=) c.2046C>G (p.Val682=) c.2004C>G (p.Val668=) c.1077C>G (p.Val359=) | |
20 | g.63407202G= | CA2374774485 | KCNQ2 | c.2115C= (p.Val705=) c.2061C= (p.Val687=) c.1458C= (p.Val486=) c.1968C= (p.Val656=) c.1629C= (p.Val543=) c.1977C= (p.Val659=) c.2085C= (p.Val695=) c.2049C= (p.Val683=) c.2007C= (p.Val669=) c.1679+6248C= (n.1679+6248C=) c.2103C= (p.Val701=) c.2169C= (p.Val723=) c.2166C= (p.Val722=) c.2139C= (p.Val713=) c.2058C= (p.Val686=) c.2043C= (p.Val681=) c.1650C= (p.Val550=) c.2112C= (p.Val704=) c.2046C= (p.Val682=) c.2004C= (p.Val668=) c.1077C= (p.Val359=) | |
20 | g.63407202G>T | CA511339404 | KCNQ2 | c.2115C>A (p.Val705=) c.2061C>A (p.Val687=) c.1458C>A (p.Val486=) c.1968C>A (p.Val656=) c.1629C>A (p.Val543=) c.1977C>A (p.Val659=) c.2085C>A (p.Val695=) c.2049C>A (p.Val683=) c.2007C>A (p.Val669=) c.1679+6248C>A (n.1679+6248C>A) c.2103C>A (p.Val701=) c.2169C>A (p.Val723=) c.2166C>A (p.Val722=) c.2139C>A (p.Val713=) c.2058C>A (p.Val686=) c.2043C>A (p.Val681=) c.1650C>A (p.Val550=) c.2112C>A (p.Val704=) c.2046C>A (p.Val682=) c.2004C>A (p.Val668=) c.1077C>A (p.Val359=) | gnomAD v4 |
20 | g.63407203A>C | CA409639075 | KCNQ2 | c.2114T>G (p.Val705Gly) c.2060T>G (p.Val687Gly) c.1457T>G (p.Val486Gly) c.1967T>G (p.Val656Gly) c.1628T>G (p.Val543Gly) c.1976T>G (p.Val659Gly) c.2084T>G (p.Val695Gly) c.2048T>G (p.Val683Gly) c.2006T>G (p.Val669Gly) c.1679+6247T>G (n.1679+6247T>G) c.2102T>G (p.Val701Gly) c.2168T>G (p.Val723Gly) c.2165T>G (p.Val722Gly) c.2138T>G (p.Val713Gly) c.2057T>G (p.Val686Gly) c.2042T>G (p.Val681Gly) c.1649T>G (p.Val550Gly) c.2111T>G (p.Val704Gly) c.2045T>G (p.Val682Gly) c.2003T>G (p.Val668Gly) c.1076T>G (p.Val359Gly) | |
20 | g.63407203A>G | CA409639077 | KCNQ2 | c.2114T>C (p.Val705Ala) c.2060T>C (p.Val687Ala) c.1457T>C (p.Val486Ala) c.1967T>C (p.Val656Ala) c.1628T>C (p.Val543Ala) c.1976T>C (p.Val659Ala) c.2084T>C (p.Val695Ala) c.2048T>C (p.Val683Ala) c.2006T>C (p.Val669Ala) c.1679+6247T>C (n.1679+6247T>C) c.2102T>C (p.Val701Ala) c.2168T>C (p.Val723Ala) c.2165T>C (p.Val722Ala) c.2138T>C (p.Val713Ala) c.2057T>C (p.Val686Ala) c.2042T>C (p.Val681Ala) c.1649T>C (p.Val550Ala) c.2111T>C (p.Val704Ala) c.2045T>C (p.Val682Ala) c.2003T>C (p.Val668Ala) c.1076T>C (p.Val359Ala) | |
20 | g.63407203A>T | CA409639076 | KCNQ2 | c.2114T>A (p.Val705Asp) c.2060T>A (p.Val687Asp) c.1457T>A (p.Val486Asp) c.1967T>A (p.Val656Asp) c.1628T>A (p.Val543Asp) c.1976T>A (p.Val659Asp) c.2084T>A (p.Val695Asp) c.2048T>A (p.Val683Asp) c.2006T>A (p.Val669Asp) c.1679+6247T>A (n.1679+6247T>A) c.2102T>A (p.Val701Asp) c.2168T>A (p.Val723Asp) c.2165T>A (p.Val722Asp) c.2138T>A (p.Val713Asp) c.2057T>A (p.Val686Asp) c.2042T>A (p.Val681Asp) c.1649T>A (p.Val550Asp) c.2111T>A (p.Val704Asp) c.2045T>A (p.Val682Asp) c.2003T>A (p.Val668Asp) c.1076T>A (p.Val359Asp) | |
20 | g.63407204C>A | CA409639078 | KCNQ2 | c.2113G>T (p.Val705Phe) c.2059G>T (p.Val687Phe) c.1456G>T (p.Val486Phe) c.1966G>T (p.Val656Phe) c.1627G>T (p.Val543Phe) c.1975G>T (p.Val659Phe) c.2083G>T (p.Val695Phe) c.2047G>T (p.Val683Phe) c.2005G>T (p.Val669Phe) c.1679+6246G>T (n.1679+6246G>T) c.2101G>T (p.Val701Phe) c.2167G>T (p.Val723Phe) c.2164G>T (p.Val722Phe) c.2137G>T (p.Val713Phe) c.2056G>T (p.Val686Phe) c.2041G>T (p.Val681Phe) c.1648G>T (p.Val550Phe) c.2110G>T (p.Val704Phe) c.2044G>T (p.Val682Phe) c.2002G>T (p.Val668Phe) c.1075G>T (p.Val359Phe) | |
20 | g.63407204C>G | CA409639079 | KCNQ2 | c.2113G>C (p.Val705Leu) c.2059G>C (p.Val687Leu) c.1456G>C (p.Val486Leu) c.1966G>C (p.Val656Leu) c.1627G>C (p.Val543Leu) c.1975G>C (p.Val659Leu) c.2083G>C (p.Val695Leu) c.2047G>C (p.Val683Leu) c.2005G>C (p.Val669Leu) c.1679+6246G>C (n.1679+6246G>C) c.2101G>C (p.Val701Leu) c.2167G>C (p.Val723Leu) c.2164G>C (p.Val722Leu) c.2137G>C (p.Val713Leu) c.2056G>C (p.Val686Leu) c.2041G>C (p.Val681Leu) c.1648G>C (p.Val550Leu) c.2110G>C (p.Val704Leu) c.2044G>C (p.Val682Leu) c.2002G>C (p.Val668Leu) c.1075G>C (p.Val359Leu) | |
20 | g.63407204C>T | CA409639080 | KCNQ2 | c.2113G>A (p.Val705Ile) c.2059G>A (p.Val687Ile) c.1456G>A (p.Val486Ile) c.1966G>A (p.Val656Ile) c.1627G>A (p.Val543Ile) c.1975G>A (p.Val659Ile) c.2083G>A (p.Val695Ile) c.2047G>A (p.Val683Ile) c.2005G>A (p.Val669Ile) c.1679+6246G>A (n.1679+6246G>A) c.2101G>A (p.Val701Ile) c.2167G>A (p.Val723Ile) c.2164G>A (p.Val722Ile) c.2137G>A (p.Val713Ile) c.2056G>A (p.Val686Ile) c.2041G>A (p.Val681Ile) c.1648G>A (p.Val550Ile) c.2110G>A (p.Val704Ile) c.2044G>A (p.Val682Ile) c.2002G>A (p.Val668Ile) c.1075G>A (p.Val359Ile) | gnomAD v4 |
20 | g.63407205A= | CA2374774486 | KCNQ2 | c.2112T= (p.Ile704=) c.2058T= (p.Ile686=) c.1455T= (p.Ile485=) c.1965T= (p.Ile655=) c.1626T= (p.Ile542=) c.1974T= (p.Ile658=) c.2082T= (p.Ile694=) c.2046T= (p.Ile682=) c.2004T= (p.Ile668=) c.1679+6245T= (n.1679+6245T=) c.2100T= (p.Ile700=) c.2166T= (p.Ile722=) c.2163T= (p.Ile721=) c.2136T= (p.Ile712=) c.2055T= (p.Ile685=) c.2040T= (p.Ile680=) c.1647T= (p.Ile549=) c.2109T= (p.Ile703=) c.2043T= (p.Ile681=) c.2001T= (p.Ile667=) c.1074T= (p.Ile358=) | |
20 | g.63407205A>C | CA409639081 | KCNQ2 | c.2112T>G (p.Ile704Met) c.2058T>G (p.Ile686Met) c.1455T>G (p.Ile485Met) c.1965T>G (p.Ile655Met) c.1626T>G (p.Ile542Met) c.1974T>G (p.Ile658Met) c.2082T>G (p.Ile694Met) c.2046T>G (p.Ile682Met) c.2004T>G (p.Ile668Met) c.1679+6245T>G (n.1679+6245T>G) c.2100T>G (p.Ile700Met) c.2166T>G (p.Ile722Met) c.2163T>G (p.Ile721Met) c.2136T>G (p.Ile712Met) c.2055T>G (p.Ile685Met) c.2040T>G (p.Ile680Met) c.1647T>G (p.Ile549Met) c.2109T>G (p.Ile703Met) c.2043T>G (p.Ile681Met) c.2001T>G (p.Ile667Met) c.1074T>G (p.Ile358Met) | |
20 | g.63407205A>G | CA511339408 | KCNQ2 | c.2112T>C (p.Ile704=) c.2058T>C (p.Ile686=) c.1455T>C (p.Ile485=) c.1965T>C (p.Ile655=) c.1626T>C (p.Ile542=) c.1974T>C (p.Ile658=) c.2082T>C (p.Ile694=) c.2046T>C (p.Ile682=) c.2004T>C (p.Ile668=) c.1679+6245T>C (n.1679+6245T>C) c.2100T>C (p.Ile700=) c.2166T>C (p.Ile722=) c.2163T>C (p.Ile721=) c.2136T>C (p.Ile712=) c.2055T>C (p.Ile685=) c.2040T>C (p.Ile680=) c.1647T>C (p.Ile549=) c.2109T>C (p.Ile703=) c.2043T>C (p.Ile681=) c.2001T>C (p.Ile667=) c.1074T>C (p.Ile358=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407205A>T | CA511339407 | KCNQ2 | c.2112T>A (p.Ile704=) c.2058T>A (p.Ile686=) c.1455T>A (p.Ile485=) c.1965T>A (p.Ile655=) c.1626T>A (p.Ile542=) c.1974T>A (p.Ile658=) c.2082T>A (p.Ile694=) c.2046T>A (p.Ile682=) c.2004T>A (p.Ile668=) c.1679+6245T>A (n.1679+6245T>A) c.2100T>A (p.Ile700=) c.2166T>A (p.Ile722=) c.2163T>A (p.Ile721=) c.2136T>A (p.Ile712=) c.2055T>A (p.Ile685=) c.2040T>A (p.Ile680=) c.1647T>A (p.Ile549=) c.2109T>A (p.Ile703=) c.2043T>A (p.Ile681=) c.2001T>A (p.Ile667=) c.1074T>A (p.Ile358=) | |
20 | g.63407206A>C | CA409639082 | KCNQ2 | c.2111T>G (p.Ile704Ser) c.2057T>G (p.Ile686Ser) c.1454T>G (p.Ile485Ser) c.1964T>G (p.Ile655Ser) c.1625T>G (p.Ile542Ser) c.1973T>G (p.Ile658Ser) c.2081T>G (p.Ile694Ser) c.2045T>G (p.Ile682Ser) c.2003T>G (p.Ile668Ser) c.1679+6244T>G (n.1679+6244T>G) c.2099T>G (p.Ile700Ser) c.2165T>G (p.Ile722Ser) c.2162T>G (p.Ile721Ser) c.2135T>G (p.Ile712Ser) c.2054T>G (p.Ile685Ser) c.2039T>G (p.Ile680Ser) c.1646T>G (p.Ile549Ser) c.2108T>G (p.Ile703Ser) c.2042T>G (p.Ile681Ser) c.2000T>G (p.Ile667Ser) c.1073T>G (p.Ile358Ser) | |
20 | g.63407206A>G | CA409639084 | KCNQ2 | c.2111T>C (p.Ile704Thr) c.2057T>C (p.Ile686Thr) c.1454T>C (p.Ile485Thr) c.1964T>C (p.Ile655Thr) c.1625T>C (p.Ile542Thr) c.1973T>C (p.Ile658Thr) c.2081T>C (p.Ile694Thr) c.2045T>C (p.Ile682Thr) c.2003T>C (p.Ile668Thr) c.1679+6244T>C (n.1679+6244T>C) c.2099T>C (p.Ile700Thr) c.2165T>C (p.Ile722Thr) c.2162T>C (p.Ile721Thr) c.2135T>C (p.Ile712Thr) c.2054T>C (p.Ile685Thr) c.2039T>C (p.Ile680Thr) c.1646T>C (p.Ile549Thr) c.2108T>C (p.Ile703Thr) c.2042T>C (p.Ile681Thr) c.2000T>C (p.Ile667Thr) c.1073T>C (p.Ile358Thr) | |
20 | g.63407206A>T | CA409639083 | KCNQ2 | c.2111T>A (p.Ile704Asn) c.2057T>A (p.Ile686Asn) c.1454T>A (p.Ile485Asn) c.1964T>A (p.Ile655Asn) c.1625T>A (p.Ile542Asn) c.1973T>A (p.Ile658Asn) c.2081T>A (p.Ile694Asn) c.2045T>A (p.Ile682Asn) c.2003T>A (p.Ile668Asn) c.1679+6244T>A (n.1679+6244T>A) c.2099T>A (p.Ile700Asn) c.2165T>A (p.Ile722Asn) c.2162T>A (p.Ile721Asn) c.2135T>A (p.Ile712Asn) c.2054T>A (p.Ile685Asn) c.2039T>A (p.Ile680Asn) c.1646T>A (p.Ile549Asn) c.2108T>A (p.Ile703Asn) c.2042T>A (p.Ile681Asn) c.2000T>A (p.Ile667Asn) c.1073T>A (p.Ile358Asn) | |
20 | g.63407207T>A | CA409639085 | KCNQ2 | c.2110A>T (p.Ile704Phe) c.2056A>T (p.Ile686Phe) c.1453A>T (p.Ile485Phe) c.1963A>T (p.Ile655Phe) c.1624A>T (p.Ile542Phe) c.1972A>T (p.Ile658Phe) c.2080A>T (p.Ile694Phe) c.2044A>T (p.Ile682Phe) c.2002A>T (p.Ile668Phe) c.1679+6243A>T (n.1679+6243A>T) c.2098A>T (p.Ile700Phe) c.2164A>T (p.Ile722Phe) c.2161A>T (p.Ile721Phe) c.2134A>T (p.Ile712Phe) c.2053A>T (p.Ile685Phe) c.2038A>T (p.Ile680Phe) c.1645A>T (p.Ile549Phe) c.2107A>T (p.Ile703Phe) c.2041A>T (p.Ile681Phe) c.1999A>T (p.Ile667Phe) c.1072A>T (p.Ile358Phe) | |
20 | g.63407207T>C | CA9958160 | KCNQ2 | c.2110A>G (p.Ile704Val) c.2056A>G (p.Ile686Val) c.1453A>G (p.Ile485Val) c.1963A>G (p.Ile655Val) c.1624A>G (p.Ile542Val) c.1972A>G (p.Ile658Val) c.2080A>G (p.Ile694Val) c.2044A>G (p.Ile682Val) c.2002A>G (p.Ile668Val) c.1679+6243A>G (n.1679+6243A>G) c.2098A>G (p.Ile700Val) c.2164A>G (p.Ile722Val) c.2161A>G (p.Ile721Val) c.2134A>G (p.Ile712Val) c.2053A>G (p.Ile685Val) c.2038A>G (p.Ile680Val) c.1645A>G (p.Ile549Val) c.2107A>G (p.Ile703Val) c.2041A>G (p.Ile681Val) c.1999A>G (p.Ile667Val) c.1072A>G (p.Ile358Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407207T>G | CA409639086 | KCNQ2 | c.2110A>C (p.Ile704Leu) c.2056A>C (p.Ile686Leu) c.1453A>C (p.Ile485Leu) c.1963A>C (p.Ile655Leu) c.1624A>C (p.Ile542Leu) c.1972A>C (p.Ile658Leu) c.2080A>C (p.Ile694Leu) c.2044A>C (p.Ile682Leu) c.2002A>C (p.Ile668Leu) c.1679+6243A>C (n.1679+6243A>C) c.2098A>C (p.Ile700Leu) c.2164A>C (p.Ile722Leu) c.2161A>C (p.Ile721Leu) c.2134A>C (p.Ile712Leu) c.2053A>C (p.Ile685Leu) c.2038A>C (p.Ile680Leu) c.1645A>C (p.Ile549Leu) c.2107A>C (p.Ile703Leu) c.2041A>C (p.Ile681Leu) c.1999A>C (p.Ile667Leu) c.1072A>C (p.Ile358Leu) | |
20 | g.63407207T= | CA2374774487 | KCNQ2 | c.2110A= (p.Ile704=) c.2056A= (p.Ile686=) c.1453A= (p.Ile485=) c.1963A= (p.Ile655=) c.1624A= (p.Ile542=) c.1972A= (p.Ile658=) c.2080A= (p.Ile694=) c.2044A= (p.Ile682=) c.2002A= (p.Ile668=) c.1679+6243A= (n.1679+6243A=) c.2098A= (p.Ile700=) c.2164A= (p.Ile722=) c.2161A= (p.Ile721=) c.2134A= (p.Ile712=) c.2053A= (p.Ile685=) c.2038A= (p.Ile680=) c.1645A= (p.Ile549=) c.2107A= (p.Ile703=) c.2041A= (p.Ile681=) c.1999A= (p.Ile667=) c.1072A= (p.Ile358=) |