| 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.63407213_63407229del | CA2739277256 | KCNQ2 | c.2090_2106del (p.His697LeufsTer?) c.2036_2052del (p.His679LeufsTer?) c.1433_1449del (p.His478LeufsTer?) c.1943_1959del (p.His648LeufsTer?) c.1604_1620del (p.His535LeufsTer?) c.1952_1968del (p.His651LeufsTer?) c.2060_2076del (p.His687LeufsTer?) c.2024_2040del (p.His675LeufsTer?) c.1982_1998del (p.His661LeufsTer?) c.1679+6223_1679+6239del (n.1679+6223_1679+6239del) c.2078_2094del (p.His693LeufsTer?) c.2144_2160del (p.His715LeufsTer?) c.2141_2157del (p.His714LeufsTer?) c.2114_2130del (p.His705LeufsTer?) c.2033_2049del (p.His678LeufsTer?) c.2018_2034del (p.His673LeufsTer?) c.1625_1641del (p.His542LeufsTer?) c.2087_2103del (p.His696LeufsTer?) c.2021_2037del (p.His674LeufsTer?) c.1979_1995del (p.His660LeufsTer?) c.1052_1068del (p.His351LeufsTer?) | ClinVar |
| 20 | g.63407226A= | CA2374774497 | KCNQ2 | c.2091T= (p.His697=) c.2037T= (p.His679=) c.1434T= (p.His478=) c.1944T= (p.His648=) c.1605T= (p.His535=) c.1953T= (p.His651=) c.2061T= (p.His687=) c.2025T= (p.His675=) c.1983T= (p.His661=) c.1679+6224T= (n.1679+6224T=) c.2079T= (p.His693=) c.2145T= (p.His715=) c.2142T= (p.His714=) c.2115T= (p.His705=) c.2034T= (p.His678=) c.2019T= (p.His673=) c.1626T= (p.His542=) c.2088T= (p.His696=) c.2022T= (p.His674=) c.1980T= (p.His660=) c.1053T= (p.His351=) | |
| 20 | g.63407226A>C | CA409639129 | KCNQ2 | c.2091T>G (p.His697Gln) c.2037T>G (p.His679Gln) c.1434T>G (p.His478Gln) c.1944T>G (p.His648Gln) c.1605T>G (p.His535Gln) c.1953T>G (p.His651Gln) c.2061T>G (p.His687Gln) c.2025T>G (p.His675Gln) c.1983T>G (p.His661Gln) c.1679+6224T>G (n.1679+6224T>G) c.2079T>G (p.His693Gln) c.2145T>G (p.His715Gln) c.2142T>G (p.His714Gln) c.2115T>G (p.His705Gln) c.2034T>G (p.His678Gln) c.2019T>G (p.His673Gln) c.1626T>G (p.His542Gln) c.2088T>G (p.His696Gln) c.2022T>G (p.His674Gln) c.1980T>G (p.His660Gln) c.1053T>G (p.His351Gln) | ClinVar |
| 20 | g.63407226A>G | CA511339427 | KCNQ2 | c.2091T>C (p.His697=) c.2037T>C (p.His679=) c.1434T>C (p.His478=) c.1944T>C (p.His648=) c.1605T>C (p.His535=) c.1953T>C (p.His651=) c.2061T>C (p.His687=) c.2025T>C (p.His675=) c.1983T>C (p.His661=) c.1679+6224T>C (n.1679+6224T>C) c.2079T>C (p.His693=) c.2145T>C (p.His715=) c.2142T>C (p.His714=) c.2115T>C (p.His705=) c.2034T>C (p.His678=) c.2019T>C (p.His673=) c.1626T>C (p.His542=) c.2088T>C (p.His696=) c.2022T>C (p.His674=) c.1980T>C (p.His660=) c.1053T>C (p.His351=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63407226A>T | CA409639130 | KCNQ2 | c.2091T>A (p.His697Gln) c.2037T>A (p.His679Gln) c.1434T>A (p.His478Gln) c.1944T>A (p.His648Gln) c.1605T>A (p.His535Gln) c.1953T>A (p.His651Gln) c.2061T>A (p.His687Gln) c.2025T>A (p.His675Gln) c.1983T>A (p.His661Gln) c.1679+6224T>A (n.1679+6224T>A) c.2079T>A (p.His693Gln) c.2145T>A (p.His715Gln) c.2142T>A (p.His714Gln) c.2115T>A (p.His705Gln) c.2034T>A (p.His678Gln) c.2019T>A (p.His673Gln) c.1626T>A (p.His542Gln) c.2088T>A (p.His696Gln) c.2022T>A (p.His674Gln) c.1980T>A (p.His660Gln) c.1053T>A (p.His351Gln) | |
| 20 | g.63407227T>A | CA409639131 | KCNQ2 | c.2090A>T (p.His697Leu) c.2036A>T (p.His679Leu) c.1433A>T (p.His478Leu) c.1943A>T (p.His648Leu) c.1604A>T (p.His535Leu) c.1952A>T (p.His651Leu) c.2060A>T (p.His687Leu) c.2024A>T (p.His675Leu) c.1982A>T (p.His661Leu) c.1679+6223A>T (n.1679+6223A>T) c.2078A>T (p.His693Leu) c.2144A>T (p.His715Leu) c.2141A>T (p.His714Leu) c.2114A>T (p.His705Leu) c.2033A>T (p.His678Leu) c.2018A>T (p.His673Leu) c.1625A>T (p.His542Leu) c.2087A>T (p.His696Leu) c.2021A>T (p.His674Leu) c.1979A>T (p.His660Leu) c.1052A>T (p.His351Leu) | |
| 20 | g.63407227T>C | CA9958165 | KCNQ2 | c.2090A>G (p.His697Arg) c.2036A>G (p.His679Arg) c.1433A>G (p.His478Arg) c.1943A>G (p.His648Arg) c.1604A>G (p.His535Arg) c.1952A>G (p.His651Arg) c.2060A>G (p.His687Arg) c.2024A>G (p.His675Arg) c.1982A>G (p.His661Arg) c.1679+6223A>G (n.1679+6223A>G) c.2078A>G (p.His693Arg) c.2144A>G (p.His715Arg) c.2141A>G (p.His714Arg) c.2114A>G (p.His705Arg) c.2033A>G (p.His678Arg) c.2018A>G (p.His673Arg) c.1625A>G (p.His542Arg) c.2087A>G (p.His696Arg) c.2021A>G (p.His674Arg) c.1979A>G (p.His660Arg) c.1052A>G (p.His351Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63407227T>G | CA409639132 | KCNQ2 | c.2090A>C (p.His697Pro) c.2036A>C (p.His679Pro) c.1433A>C (p.His478Pro) c.1943A>C (p.His648Pro) c.1604A>C (p.His535Pro) c.1952A>C (p.His651Pro) c.2060A>C (p.His687Pro) c.2024A>C (p.His675Pro) c.1982A>C (p.His661Pro) c.1679+6223A>C (n.1679+6223A>C) c.2078A>C (p.His693Pro) c.2144A>C (p.His715Pro) c.2141A>C (p.His714Pro) c.2114A>C (p.His705Pro) c.2033A>C (p.His678Pro) c.2018A>C (p.His673Pro) c.1625A>C (p.His542Pro) c.2087A>C (p.His696Pro) c.2021A>C (p.His674Pro) c.1979A>C (p.His660Pro) c.1052A>C (p.His351Pro) | |
| 20 | g.63407227T= | CA2374774498 | KCNQ2 | c.2090A= (p.His697=) c.2036A= (p.His679=) c.1433A= (p.His478=) c.1943A= (p.His648=) c.1604A= (p.His535=) c.1952A= (p.His651=) c.2060A= (p.His687=) c.2024A= (p.His675=) c.1982A= (p.His661=) c.1679+6223A= (n.1679+6223A=) c.2078A= (p.His693=) c.2144A= (p.His715=) c.2141A= (p.His714=) c.2114A= (p.His705=) c.2033A= (p.His678=) c.2018A= (p.His673=) c.1625A= (p.His542=) c.2087A= (p.His696=) c.2021A= (p.His674=) c.1979A= (p.His660=) c.1052A= (p.His351=) | |
| 20 | g.63407228G>A | CA409639133 | KCNQ2 | c.2089C>T (p.His697Tyr) c.2035C>T (p.His679Tyr) c.1432C>T (p.His478Tyr) c.1942C>T (p.His648Tyr) c.1603C>T (p.His535Tyr) c.1951C>T (p.His651Tyr) c.2059C>T (p.His687Tyr) c.2023C>T (p.His675Tyr) c.1981C>T (p.His661Tyr) c.1679+6222C>T (n.1679+6222C>T) c.2077C>T (p.His693Tyr) c.2143C>T (p.His715Tyr) c.2140C>T (p.His714Tyr) c.2113C>T (p.His705Tyr) c.2032C>T (p.His678Tyr) c.2017C>T (p.His673Tyr) c.1624C>T (p.His542Tyr) c.2086C>T (p.His696Tyr) c.2020C>T (p.His674Tyr) c.1978C>T (p.His660Tyr) c.1051C>T (p.His351Tyr) | COSMIC COSMIC COSMIC |
| 20 | g.63407228G>C | CA409639134 | KCNQ2 | c.2089C>G (p.His697Asp) c.2035C>G (p.His679Asp) c.1432C>G (p.His478Asp) c.1942C>G (p.His648Asp) c.1603C>G (p.His535Asp) c.1951C>G (p.His651Asp) c.2059C>G (p.His687Asp) c.2023C>G (p.His675Asp) c.1981C>G (p.His661Asp) c.1679+6222C>G (n.1679+6222C>G) c.2077C>G (p.His693Asp) c.2143C>G (p.His715Asp) c.2140C>G (p.His714Asp) c.2113C>G (p.His705Asp) c.2032C>G (p.His678Asp) c.2017C>G (p.His673Asp) c.1624C>G (p.His542Asp) c.2086C>G (p.His696Asp) c.2020C>G (p.His674Asp) c.1978C>G (p.His660Asp) c.1051C>G (p.His351Asp) | |
| 20 | g.63407228G>T | CA409639135 | KCNQ2 | c.2089C>A (p.His697Asn) c.2035C>A (p.His679Asn) c.1432C>A (p.His478Asn) c.1942C>A (p.His648Asn) c.1603C>A (p.His535Asn) c.1951C>A (p.His651Asn) c.2059C>A (p.His687Asn) c.2023C>A (p.His675Asn) c.1981C>A (p.His661Asn) c.1679+6222C>A (n.1679+6222C>A) c.2077C>A (p.His693Asn) c.2143C>A (p.His715Asn) c.2140C>A (p.His714Asn) c.2113C>A (p.His705Asn) c.2032C>A (p.His678Asn) c.2017C>A (p.His673Asn) c.1624C>A (p.His542Asn) c.2086C>A (p.His696Asn) c.2020C>A (p.His674Asn) c.1978C>A (p.His660Asn) c.1051C>A (p.His351Asn) | gnomAD v4 |
| 20 | g.63407229C>A | CA409639136 | KCNQ2 | c.2088G>T (p.Glu696Asp) c.2034G>T (p.Glu678Asp) c.1431G>T (p.Glu477Asp) c.1941G>T (p.Glu647Asp) c.1602G>T (p.Glu534Asp) c.1950G>T (p.Glu650Asp) c.2058G>T (p.Glu686Asp) c.2022G>T (p.Glu674Asp) c.1980G>T (p.Glu660Asp) c.1679+6221G>T (n.1679+6221G>T) c.2076G>T (p.Glu692Asp) c.2142G>T (p.Glu714Asp) c.2139G>T (p.Glu713Asp) c.2112G>T (p.Glu704Asp) c.2031G>T (p.Glu677Asp) c.2016G>T (p.Glu672Asp) c.1623G>T (p.Glu541Asp) c.2085G>T (p.Glu695Asp) c.2019G>T (p.Glu673Asp) c.1977G>T (p.Glu659Asp) c.1050G>T (p.Glu350Asp) | gnomAD v4 |
| 20 | g.63407229C>G | CA409639137 | KCNQ2 | c.2088G>C (p.Glu696Asp) c.2034G>C (p.Glu678Asp) c.1431G>C (p.Glu477Asp) c.1941G>C (p.Glu647Asp) c.1602G>C (p.Glu534Asp) c.1950G>C (p.Glu650Asp) c.2058G>C (p.Glu686Asp) c.2022G>C (p.Glu674Asp) c.1980G>C (p.Glu660Asp) c.1679+6221G>C (n.1679+6221G>C) c.2076G>C (p.Glu692Asp) c.2142G>C (p.Glu714Asp) c.2139G>C (p.Glu713Asp) c.2112G>C (p.Glu704Asp) c.2031G>C (p.Glu677Asp) c.2016G>C (p.Glu672Asp) c.1623G>C (p.Glu541Asp) c.2085G>C (p.Glu695Asp) c.2019G>C (p.Glu673Asp) c.1977G>C (p.Glu659Asp) c.1050G>C (p.Glu350Asp) | |
| 20 | g.63407229C>T | CA511339429 | KCNQ2 | c.2088G>A (p.Glu696=) c.2034G>A (p.Glu678=) c.1431G>A (p.Glu477=) c.1941G>A (p.Glu647=) c.1602G>A (p.Glu534=) c.1950G>A (p.Glu650=) c.2058G>A (p.Glu686=) c.2022G>A (p.Glu674=) c.1980G>A (p.Glu660=) c.1679+6221G>A (n.1679+6221G>A) c.2076G>A (p.Glu692=) c.2142G>A (p.Glu714=) c.2139G>A (p.Glu713=) c.2112G>A (p.Glu704=) c.2031G>A (p.Glu677=) c.2016G>A (p.Glu672=) c.1623G>A (p.Glu541=) c.2085G>A (p.Glu695=) c.2019G>A (p.Glu673=) c.1977G>A (p.Glu659=) c.1050G>A (p.Glu350=) | gnomAD v4 |
| 20 | g.63407230T>A | CA409639138 | KCNQ2 | c.2087A>T (p.Glu696Val) c.2033A>T (p.Glu678Val) c.1430A>T (p.Glu477Val) c.1940A>T (p.Glu647Val) c.1601A>T (p.Glu534Val) c.1949A>T (p.Glu650Val) c.2057A>T (p.Glu686Val) c.2021A>T (p.Glu674Val) c.1979A>T (p.Glu660Val) c.1679+6220A>T (n.1679+6220A>T) c.2075A>T (p.Glu692Val) c.2141A>T (p.Glu714Val) c.2138A>T (p.Glu713Val) c.2111A>T (p.Glu704Val) c.2030A>T (p.Glu677Val) c.2015A>T (p.Glu672Val) c.1622A>T (p.Glu541Val) c.2084A>T (p.Glu695Val) c.2018A>T (p.Glu673Val) c.1976A>T (p.Glu659Val) c.1049A>T (p.Glu350Val) | |
| 20 | g.63407230T>C | CA409639139 | KCNQ2 | c.2087A>G (p.Glu696Gly) c.2033A>G (p.Glu678Gly) c.1430A>G (p.Glu477Gly) c.1940A>G (p.Glu647Gly) c.1601A>G (p.Glu534Gly) c.1949A>G (p.Glu650Gly) c.2057A>G (p.Glu686Gly) c.2021A>G (p.Glu674Gly) c.1979A>G (p.Glu660Gly) c.1679+6220A>G (n.1679+6220A>G) c.2075A>G (p.Glu692Gly) c.2141A>G (p.Glu714Gly) c.2138A>G (p.Glu713Gly) c.2111A>G (p.Glu704Gly) c.2030A>G (p.Glu677Gly) c.2015A>G (p.Glu672Gly) c.1622A>G (p.Glu541Gly) c.2084A>G (p.Glu695Gly) c.2018A>G (p.Glu673Gly) c.1976A>G (p.Glu659Gly) c.1049A>G (p.Glu350Gly) | |
| 20 | g.63407230T>G | CA409639140 | KCNQ2 | c.2087A>C (p.Glu696Ala) c.2033A>C (p.Glu678Ala) c.1430A>C (p.Glu477Ala) c.1940A>C (p.Glu647Ala) c.1601A>C (p.Glu534Ala) c.1949A>C (p.Glu650Ala) c.2057A>C (p.Glu686Ala) c.2021A>C (p.Glu674Ala) c.1979A>C (p.Glu660Ala) c.1679+6220A>C (n.1679+6220A>C) c.2075A>C (p.Glu692Ala) c.2141A>C (p.Glu714Ala) c.2138A>C (p.Glu713Ala) c.2111A>C (p.Glu704Ala) c.2030A>C (p.Glu677Ala) c.2015A>C (p.Glu672Ala) c.1622A>C (p.Glu541Ala) c.2084A>C (p.Glu695Ala) c.2018A>C (p.Glu673Ala) c.1976A>C (p.Glu659Ala) c.1049A>C (p.Glu350Ala) | |
| 20 | g.63407231C>A | CA409639141 | KCNQ2 | c.2086G>T (p.Glu696Ter) c.2032G>T (p.Glu678Ter) c.1429G>T (p.Glu477Ter) c.1939G>T (p.Glu647Ter) c.1600G>T (p.Glu534Ter) c.1948G>T (p.Glu650Ter) c.2056G>T (p.Glu686Ter) c.2020G>T (p.Glu674Ter) c.1978G>T (p.Glu660Ter) c.1679+6219G>T (n.1679+6219G>T) c.2074G>T (p.Glu692Ter) c.2140G>T (p.Glu714Ter) c.2137G>T (p.Glu713Ter) c.2110G>T (p.Glu704Ter) c.2029G>T (p.Glu677Ter) c.2014G>T (p.Glu672Ter) c.1621G>T (p.Glu541Ter) c.2083G>T (p.Glu695Ter) c.2017G>T (p.Glu673Ter) c.1975G>T (p.Glu659Ter) c.1048G>T (p.Glu350Ter) | gnomAD v4 |
| 20 | g.63407231C= | CA2374774499 | KCNQ2 | c.2086G= (p.Glu696=) c.2032G= (p.Glu678=) c.1429G= (p.Glu477=) c.1939G= (p.Glu647=) c.1600G= (p.Glu534=) c.1948G= (p.Glu650=) c.2056G= (p.Glu686=) c.2020G= (p.Glu674=) c.1978G= (p.Glu660=) c.1679+6219G= (n.1679+6219G=) c.2074G= (p.Glu692=) c.2140G= (p.Glu714=) c.2137G= (p.Glu713=) c.2110G= (p.Glu704=) c.2029G= (p.Glu677=) c.2014G= (p.Glu672=) c.1621G= (p.Glu541=) c.2083G= (p.Glu695=) c.2017G= (p.Glu673=) c.1975G= (p.Glu659=) c.1048G= (p.Glu350=) | |
| 20 | g.63407231C>G | CA409639142 | KCNQ2 | c.2086G>C (p.Glu696Gln) c.2032G>C (p.Glu678Gln) c.1429G>C (p.Glu477Gln) c.1939G>C (p.Glu647Gln) c.1600G>C (p.Glu534Gln) c.1948G>C (p.Glu650Gln) c.2056G>C (p.Glu686Gln) c.2020G>C (p.Glu674Gln) c.1978G>C (p.Glu660Gln) c.1679+6219G>C (n.1679+6219G>C) c.2074G>C (p.Glu692Gln) c.2140G>C (p.Glu714Gln) c.2137G>C (p.Glu713Gln) c.2110G>C (p.Glu704Gln) c.2029G>C (p.Glu677Gln) c.2014G>C (p.Glu672Gln) c.1621G>C (p.Glu541Gln) c.2083G>C (p.Glu695Gln) c.2017G>C (p.Glu673Gln) c.1975G>C (p.Glu659Gln) c.1048G>C (p.Glu350Gln) | |
| 20 | g.63407231C>T | CA409639143 | KCNQ2 | c.2086G>A (p.Glu696Lys) c.2032G>A (p.Glu678Lys) c.1429G>A (p.Glu477Lys) c.1939G>A (p.Glu647Lys) c.1600G>A (p.Glu534Lys) c.1948G>A (p.Glu650Lys) c.2056G>A (p.Glu686Lys) c.2020G>A (p.Glu674Lys) c.1978G>A (p.Glu660Lys) c.1679+6219G>A (n.1679+6219G>A) c.2074G>A (p.Glu692Lys) c.2140G>A (p.Glu714Lys) c.2137G>A (p.Glu713Lys) c.2110G>A (p.Glu704Lys) c.2029G>A (p.Glu677Lys) c.2014G>A (p.Glu672Lys) c.1621G>A (p.Glu541Lys) c.2083G>A (p.Glu695Lys) c.2017G>A (p.Glu673Lys) c.1975G>A (p.Glu659Lys) c.1048G>A (p.Glu350Lys) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63407233dup | CA2695230036 | KCNQ2 | c.2086dup (p.Glu696GlyfsTer?) c.2032dup (p.Glu678GlyfsTer?) c.1429dup (p.Glu477GlyfsTer?) c.1939dup (p.Glu647GlyfsTer?) c.1600dup (p.Glu534GlyfsTer?) c.1948dup (p.Glu650GlyfsTer?) c.2056dup (p.Glu686GlyfsTer?) c.2020dup (p.Glu674GlyfsTer?) c.1978dup (p.Glu660GlyfsTer?) c.1679+6219dup (n.1679+6219dup) c.2074dup (p.Glu692GlyfsTer?) c.2140dup (p.Glu714GlyfsTer?) c.2137dup (p.Glu713GlyfsTer?) c.2110dup (p.Glu704GlyfsTer?) c.2029dup (p.Glu677GlyfsTer?) c.2014dup (p.Glu672GlyfsTer?) c.1621dup (p.Glu541GlyfsTer?) c.2083dup (p.Glu695GlyfsTer?) c.2017dup (p.Glu673GlyfsTer?) c.1975dup (p.Glu659GlyfsTer?) c.1048dup (p.Glu350GlyfsTer?) | |
| 20 | g.63407233del | CA2573157306 | KCNQ2 | c.2086del (p.Glu696SerfsTer?) c.2032del (p.Glu678SerfsTer?) c.1429del (p.Glu477SerfsTer?) c.1939del (p.Glu647SerfsTer?) c.1600del (p.Glu534SerfsTer?) c.1948del (p.Glu650SerfsTer?) c.2056del (p.Glu686SerfsTer?) c.2020del (p.Glu674SerfsTer?) c.1978del (p.Glu660SerfsTer?) c.1679+6219del (n.1679+6219del) c.2074del (p.Glu692SerfsTer?) c.2140del (p.Glu714SerfsTer?) c.2137del (p.Glu713SerfsTer?) c.2110del (p.Glu704SerfsTer?) c.2029del (p.Glu677SerfsTer?) c.2014del (p.Glu672SerfsTer?) c.1621del (p.Glu541SerfsTer?) c.2083del (p.Glu695SerfsTer?) c.2017del (p.Glu673SerfsTer?) c.1975del (p.Glu659SerfsTer?) c.1048del (p.Glu350SerfsTer?) | ClinVar dbSNP |
| 20 | g.63407232C>A | CA511339432 | KCNQ2 | c.2085G>T (p.Arg695=) c.2031G>T (p.Arg677=) c.1428G>T (p.Arg476=) c.1938G>T (p.Arg646=) c.1599G>T (p.Arg533=) c.1947G>T (p.Arg649=) c.2055G>T (p.Arg685=) c.2019G>T (p.Arg673=) c.1977G>T (p.Arg659=) c.1679+6218G>T (n.1679+6218G>T) c.2073G>T (p.Arg691=) c.2139G>T (p.Arg713=) c.2136G>T (p.Arg712=) c.2109G>T (p.Arg703=) c.2028G>T (p.Arg676=) c.2013G>T (p.Arg671=) c.1620G>T (p.Arg540=) c.2082G>T (p.Arg694=) c.2016G>T (p.Arg672=) c.1974G>T (p.Arg658=) c.1047G>T (p.Arg349=) | gnomAD v4 |
| 20 | g.63407232C= | CA2374774500 | KCNQ2 | c.2085G= (p.Arg695=) c.2031G= (p.Arg677=) c.1428G= (p.Arg476=) c.1938G= (p.Arg646=) c.1599G= (p.Arg533=) c.1947G= (p.Arg649=) c.2055G= (p.Arg685=) c.2019G= (p.Arg673=) c.1977G= (p.Arg659=) c.1679+6218G= (n.1679+6218G=) c.2073G= (p.Arg691=) c.2139G= (p.Arg713=) c.2136G= (p.Arg712=) c.2109G= (p.Arg703=) c.2028G= (p.Arg676=) c.2013G= (p.Arg671=) c.1620G= (p.Arg540=) c.2082G= (p.Arg694=) c.2016G= (p.Arg672=) c.1974G= (p.Arg658=) c.1047G= (p.Arg349=) | |
| 20 | g.63407232C>G | CA511339433 | KCNQ2 | c.2085G>C (p.Arg695=) c.2031G>C (p.Arg677=) c.1428G>C (p.Arg476=) c.1938G>C (p.Arg646=) c.1599G>C (p.Arg533=) c.1947G>C (p.Arg649=) c.2055G>C (p.Arg685=) c.2019G>C (p.Arg673=) c.1977G>C (p.Arg659=) c.1679+6218G>C (n.1679+6218G>C) c.2073G>C (p.Arg691=) c.2139G>C (p.Arg713=) c.2136G>C (p.Arg712=) c.2109G>C (p.Arg703=) c.2028G>C (p.Arg676=) c.2013G>C (p.Arg671=) c.1620G>C (p.Arg540=) c.2082G>C (p.Arg694=) c.2016G>C (p.Arg672=) c.1974G>C (p.Arg658=) c.1047G>C (p.Arg349=) | |
| 20 | g.63407232C>T | CA288930 | KCNQ2 | c.2085G>A (p.Arg695=) c.2031G>A (p.Arg677=) c.1428G>A (p.Arg476=) c.1938G>A (p.Arg646=) c.1599G>A (p.Arg533=) c.1947G>A (p.Arg649=) c.2055G>A (p.Arg685=) c.2019G>A (p.Arg673=) c.1977G>A (p.Arg659=) c.1679+6218G>A (n.1679+6218G>A) c.2073G>A (p.Arg691=) c.2139G>A (p.Arg713=) c.2136G>A (p.Arg712=) c.2109G>A (p.Arg703=) c.2028G>A (p.Arg676=) c.2013G>A (p.Arg671=) c.1620G>A (p.Arg540=) c.2082G>A (p.Arg694=) c.2016G>A (p.Arg672=) c.1974G>A (p.Arg658=) c.1047G>A (p.Arg349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63407233C>A | CA409639144 | KCNQ2 | c.2084G>T (p.Arg695Leu) c.2030G>T (p.Arg677Leu) c.1427G>T (p.Arg476Leu) c.1937G>T (p.Arg646Leu) c.1598G>T (p.Arg533Leu) c.1946G>T (p.Arg649Leu) c.2054G>T (p.Arg685Leu) c.2018G>T (p.Arg673Leu) c.1976G>T (p.Arg659Leu) c.1679+6217G>T (n.1679+6217G>T) c.2072G>T (p.Arg691Leu) c.2138G>T (p.Arg713Leu) c.2135G>T (p.Arg712Leu) c.2108G>T (p.Arg703Leu) c.2027G>T (p.Arg676Leu) c.2012G>T (p.Arg671Leu) c.1619G>T (p.Arg540Leu) c.2081G>T (p.Arg694Leu) c.2015G>T (p.Arg672Leu) c.1973G>T (p.Arg658Leu) c.1046G>T (p.Arg349Leu) | gnomAD v4 |
| 20 | g.63407233C= | CA2374774501 | KCNQ2 | c.2084G= (p.Arg695=) c.2030G= (p.Arg677=) c.1427G= (p.Arg476=) c.1937G= (p.Arg646=) c.1598G= (p.Arg533=) c.1946G= (p.Arg649=) c.2054G= (p.Arg685=) c.2018G= (p.Arg673=) c.1976G= (p.Arg659=) c.1679+6217G= (n.1679+6217G=) c.2072G= (p.Arg691=) c.2138G= (p.Arg713=) c.2135G= (p.Arg712=) c.2108G= (p.Arg703=) c.2027G= (p.Arg676=) c.2012G= (p.Arg671=) c.1619G= (p.Arg540=) c.2081G= (p.Arg694=) c.2015G= (p.Arg672=) c.1973G= (p.Arg658=) c.1046G= (p.Arg349=) | |
| 20 | g.63407233C>G | CA409639145 | KCNQ2 | c.2084G>C (p.Arg695Pro) c.2030G>C (p.Arg677Pro) c.1427G>C (p.Arg476Pro) c.1937G>C (p.Arg646Pro) c.1598G>C (p.Arg533Pro) c.1946G>C (p.Arg649Pro) c.2054G>C (p.Arg685Pro) c.2018G>C (p.Arg673Pro) c.1976G>C (p.Arg659Pro) c.1679+6217G>C (n.1679+6217G>C) c.2072G>C (p.Arg691Pro) c.2138G>C (p.Arg713Pro) c.2135G>C (p.Arg712Pro) c.2108G>C (p.Arg703Pro) c.2027G>C (p.Arg676Pro) c.2012G>C (p.Arg671Pro) c.1619G>C (p.Arg540Pro) c.2081G>C (p.Arg694Pro) c.2015G>C (p.Arg672Pro) c.1973G>C (p.Arg658Pro) c.1046G>C (p.Arg349Pro) | ClinVar dbSNP |
| 20 | g.63407233C>T | CA409639146 | KCNQ2 | c.2084G>A (p.Arg695Gln) c.2030G>A (p.Arg677Gln) c.1427G>A (p.Arg476Gln) c.1937G>A (p.Arg646Gln) c.1598G>A (p.Arg533Gln) c.1946G>A (p.Arg649Gln) c.2054G>A (p.Arg685Gln) c.2018G>A (p.Arg673Gln) c.1976G>A (p.Arg659Gln) c.1679+6217G>A (n.1679+6217G>A) c.2072G>A (p.Arg691Gln) c.2138G>A (p.Arg713Gln) c.2135G>A (p.Arg712Gln) c.2108G>A (p.Arg703Gln) c.2027G>A (p.Arg676Gln) c.2012G>A (p.Arg671Gln) c.1619G>A (p.Arg540Gln) c.2081G>A (p.Arg694Gln) c.2015G>A (p.Arg672Gln) c.1973G>A (p.Arg658Gln) c.1046G>A (p.Arg349Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63407234G>A | CA9958166 | KCNQ2 | c.2083C>T (p.Arg695Trp) c.2029C>T (p.Arg677Trp) c.1426C>T (p.Arg476Trp) c.1936C>T (p.Arg646Trp) c.1597C>T (p.Arg533Trp) c.1945C>T (p.Arg649Trp) c.2053C>T (p.Arg685Trp) c.2017C>T (p.Arg673Trp) c.1975C>T (p.Arg659Trp) c.1679+6216C>T (n.1679+6216C>T) c.2071C>T (p.Arg691Trp) c.2137C>T (p.Arg713Trp) c.2134C>T (p.Arg712Trp) c.2107C>T (p.Arg703Trp) c.2026C>T (p.Arg676Trp) c.2011C>T (p.Arg671Trp) c.1618C>T (p.Arg540Trp) c.2080C>T (p.Arg694Trp) c.2014C>T (p.Arg672Trp) c.1972C>T (p.Arg658Trp) c.1045C>T (p.Arg349Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63407234G>C | CA409639147 | KCNQ2 | c.2083C>G (p.Arg695Gly) c.2029C>G (p.Arg677Gly) c.1426C>G (p.Arg476Gly) c.1936C>G (p.Arg646Gly) c.1597C>G (p.Arg533Gly) c.1945C>G (p.Arg649Gly) c.2053C>G (p.Arg685Gly) c.2017C>G (p.Arg673Gly) c.1975C>G (p.Arg659Gly) c.1679+6216C>G (n.1679+6216C>G) c.2071C>G (p.Arg691Gly) c.2137C>G (p.Arg713Gly) c.2134C>G (p.Arg712Gly) c.2107C>G (p.Arg703Gly) c.2026C>G (p.Arg676Gly) c.2011C>G (p.Arg671Gly) c.1618C>G (p.Arg540Gly) c.2080C>G (p.Arg694Gly) c.2014C>G (p.Arg672Gly) c.1972C>G (p.Arg658Gly) c.1045C>G (p.Arg349Gly) | |
| 20 | g.63407234G= | CA2374774502 | KCNQ2 | c.2083C= (p.Arg695=) c.2029C= (p.Arg677=) c.1426C= (p.Arg476=) c.1936C= (p.Arg646=) c.1597C= (p.Arg533=) c.1945C= (p.Arg649=) c.2053C= (p.Arg685=) c.2017C= (p.Arg673=) c.1975C= (p.Arg659=) c.1679+6216C= (n.1679+6216C=) c.2071C= (p.Arg691=) c.2137C= (p.Arg713=) c.2134C= (p.Arg712=) c.2107C= (p.Arg703=) c.2026C= (p.Arg676=) c.2011C= (p.Arg671=) c.1618C= (p.Arg540=) c.2080C= (p.Arg694=) c.2014C= (p.Arg672=) c.1972C= (p.Arg658=) c.1045C= (p.Arg349=) | |
| 20 | g.63407234G>T | CA9958167 | KCNQ2 | c.2083C>A (p.Arg695=) c.2029C>A (p.Arg677=) c.1426C>A (p.Arg476=) c.1936C>A (p.Arg646=) c.1597C>A (p.Arg533=) c.1945C>A (p.Arg649=) c.2053C>A (p.Arg685=) c.2017C>A (p.Arg673=) c.1975C>A (p.Arg659=) c.1679+6216C>A (n.1679+6216C>A) c.2071C>A (p.Arg691=) c.2137C>A (p.Arg713=) c.2134C>A (p.Arg712=) c.2107C>A (p.Arg703=) c.2026C>A (p.Arg676=) c.2011C>A (p.Arg671=) c.1618C>A (p.Arg540=) c.2080C>A (p.Arg694=) c.2014C>A (p.Arg672=) c.1972C>A (p.Arg658=) c.1045C>A (p.Arg349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63407235G>A | CA511339436 | KCNQ2 | c.2082C>T (p.Ser694=) c.2028C>T (p.Ser676=) c.1425C>T (p.Ser475=) c.1935C>T (p.Ser645=) c.1596C>T (p.Ser532=) c.1944C>T (p.Ser648=) c.2052C>T (p.Ser684=) c.2016C>T (p.Ser672=) c.1974C>T (p.Ser658=) c.1679+6215C>T (n.1679+6215C>T) c.2070C>T (p.Ser690=) c.2136C>T (p.Ser712=) c.2133C>T (p.Ser711=) c.2106C>T (p.Ser702=) c.2025C>T (p.Ser675=) c.2010C>T (p.Ser670=) c.1617C>T (p.Ser539=) c.2079C>T (p.Ser693=) c.2013C>T (p.Ser671=) c.1971C>T (p.Ser657=) c.1044C>T (p.Ser348=) | gnomAD v4 |
| 20 | g.63407235G>C | CA409639149 | KCNQ2 | c.2082C>G (p.Ser694Arg) c.2028C>G (p.Ser676Arg) c.1425C>G (p.Ser475Arg) c.1935C>G (p.Ser645Arg) c.1596C>G (p.Ser532Arg) c.1944C>G (p.Ser648Arg) c.2052C>G (p.Ser684Arg) c.2016C>G (p.Ser672Arg) c.1974C>G (p.Ser658Arg) c.1679+6215C>G (n.1679+6215C>G) c.2070C>G (p.Ser690Arg) c.2136C>G (p.Ser712Arg) c.2133C>G (p.Ser711Arg) c.2106C>G (p.Ser702Arg) c.2025C>G (p.Ser675Arg) c.2010C>G (p.Ser670Arg) c.1617C>G (p.Ser539Arg) c.2079C>G (p.Ser693Arg) c.2013C>G (p.Ser671Arg) c.1971C>G (p.Ser657Arg) c.1044C>G (p.Ser348Arg) | gnomAD v4 |
| 20 | g.63407235G>T | CA409639148 | KCNQ2 | c.2082C>A (p.Ser694Arg) c.2028C>A (p.Ser676Arg) c.1425C>A (p.Ser475Arg) c.1935C>A (p.Ser645Arg) c.1596C>A (p.Ser532Arg) c.1944C>A (p.Ser648Arg) c.2052C>A (p.Ser684Arg) c.2016C>A (p.Ser672Arg) c.1974C>A (p.Ser658Arg) c.1679+6215C>A (n.1679+6215C>A) c.2070C>A (p.Ser690Arg) c.2136C>A (p.Ser712Arg) c.2133C>A (p.Ser711Arg) c.2106C>A (p.Ser702Arg) c.2025C>A (p.Ser675Arg) c.2010C>A (p.Ser670Arg) c.1617C>A (p.Ser539Arg) c.2079C>A (p.Ser693Arg) c.2013C>A (p.Ser671Arg) c.1971C>A (p.Ser657Arg) c.1044C>A (p.Ser348Arg) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63407236C>A | CA409639150 | KCNQ2 | c.2081G>T (p.Ser694Ile) c.2027G>T (p.Ser676Ile) c.1424G>T (p.Ser475Ile) c.1934G>T (p.Ser645Ile) c.1595G>T (p.Ser532Ile) c.1943G>T (p.Ser648Ile) c.2051G>T (p.Ser684Ile) c.2015G>T (p.Ser672Ile) c.1973G>T (p.Ser658Ile) c.1679+6214G>T (n.1679+6214G>T) c.2069G>T (p.Ser690Ile) c.2135G>T (p.Ser712Ile) c.2132G>T (p.Ser711Ile) c.2105G>T (p.Ser702Ile) c.2024G>T (p.Ser675Ile) c.2009G>T (p.Ser670Ile) c.1616G>T (p.Ser539Ile) c.2078G>T (p.Ser693Ile) c.2012G>T (p.Ser671Ile) c.1970G>T (p.Ser657Ile) c.1043G>T (p.Ser348Ile) | |
| 20 | g.63407236C>G | CA409639152 | KCNQ2 | c.2081G>C (p.Ser694Thr) c.2027G>C (p.Ser676Thr) c.1424G>C (p.Ser475Thr) c.1934G>C (p.Ser645Thr) c.1595G>C (p.Ser532Thr) c.1943G>C (p.Ser648Thr) c.2051G>C (p.Ser684Thr) c.2015G>C (p.Ser672Thr) c.1973G>C (p.Ser658Thr) c.1679+6214G>C (n.1679+6214G>C) c.2069G>C (p.Ser690Thr) c.2135G>C (p.Ser712Thr) c.2132G>C (p.Ser711Thr) c.2105G>C (p.Ser702Thr) c.2024G>C (p.Ser675Thr) c.2009G>C (p.Ser670Thr) c.1616G>C (p.Ser539Thr) c.2078G>C (p.Ser693Thr) c.2012G>C (p.Ser671Thr) c.1970G>C (p.Ser657Thr) c.1043G>C (p.Ser348Thr) | |
| 20 | g.63407236C>T | CA409639151 | KCNQ2 | c.2081G>A (p.Ser694Asn) c.2027G>A (p.Ser676Asn) c.1424G>A (p.Ser475Asn) c.1934G>A (p.Ser645Asn) c.1595G>A (p.Ser532Asn) c.1943G>A (p.Ser648Asn) c.2051G>A (p.Ser684Asn) c.2015G>A (p.Ser672Asn) c.1973G>A (p.Ser658Asn) c.1679+6214G>A (n.1679+6214G>A) c.2069G>A (p.Ser690Asn) c.2135G>A (p.Ser712Asn) c.2132G>A (p.Ser711Asn) c.2105G>A (p.Ser702Asn) c.2024G>A (p.Ser675Asn) c.2009G>A (p.Ser670Asn) c.1616G>A (p.Ser539Asn) c.2078G>A (p.Ser693Asn) c.2012G>A (p.Ser671Asn) c.1970G>A (p.Ser657Asn) c.1043G>A (p.Ser348Asn) | gnomAD v4 |
| 20 | g.63407237T>A | CA409639153 | KCNQ2 | c.2080A>T (p.Ser694Cys) c.2026A>T (p.Ser676Cys) c.1423A>T (p.Ser475Cys) c.1933A>T (p.Ser645Cys) c.1594A>T (p.Ser532Cys) c.1942A>T (p.Ser648Cys) c.2050A>T (p.Ser684Cys) c.2014A>T (p.Ser672Cys) c.1972A>T (p.Ser658Cys) c.1679+6213A>T (n.1679+6213A>T) c.2068A>T (p.Ser690Cys) c.2134A>T (p.Ser712Cys) c.2131A>T (p.Ser711Cys) c.2104A>T (p.Ser702Cys) c.2023A>T (p.Ser675Cys) c.2008A>T (p.Ser670Cys) c.1615A>T (p.Ser539Cys) c.2077A>T (p.Ser693Cys) c.2011A>T (p.Ser671Cys) c.1969A>T (p.Ser657Cys) c.1042A>T (p.Ser348Cys) | |
| 20 | g.63407237T>C | CA409639154 | KCNQ2 | c.2080A>G (p.Ser694Gly) c.2026A>G (p.Ser676Gly) c.1423A>G (p.Ser475Gly) c.1933A>G (p.Ser645Gly) c.1594A>G (p.Ser532Gly) c.1942A>G (p.Ser648Gly) c.2050A>G (p.Ser684Gly) c.2014A>G (p.Ser672Gly) c.1972A>G (p.Ser658Gly) c.1679+6213A>G (n.1679+6213A>G) c.2068A>G (p.Ser690Gly) c.2134A>G (p.Ser712Gly) c.2131A>G (p.Ser711Gly) c.2104A>G (p.Ser702Gly) c.2023A>G (p.Ser675Gly) c.2008A>G (p.Ser670Gly) c.1615A>G (p.Ser539Gly) c.2077A>G (p.Ser693Gly) c.2011A>G (p.Ser671Gly) c.1969A>G (p.Ser657Gly) c.1042A>G (p.Ser348Gly) | |
| 20 | g.63407237T>G | CA409639155 | KCNQ2 | c.2080A>C (p.Ser694Arg) c.2026A>C (p.Ser676Arg) c.1423A>C (p.Ser475Arg) c.1933A>C (p.Ser645Arg) c.1594A>C (p.Ser532Arg) c.1942A>C (p.Ser648Arg) c.2050A>C (p.Ser684Arg) c.2014A>C (p.Ser672Arg) c.1972A>C (p.Ser658Arg) c.1679+6213A>C (n.1679+6213A>C) c.2068A>C (p.Ser690Arg) c.2134A>C (p.Ser712Arg) c.2131A>C (p.Ser711Arg) c.2104A>C (p.Ser702Arg) c.2023A>C (p.Ser675Arg) c.2008A>C (p.Ser670Arg) c.1615A>C (p.Ser539Arg) c.2077A>C (p.Ser693Arg) c.2011A>C (p.Ser671Arg) c.1969A>C (p.Ser657Arg) c.1042A>C (p.Ser348Arg) | |
| 20 | g.63407238G>A | CA511339437 | KCNQ2 | c.2079C>T (p.Asp693=) c.2025C>T (p.Asp675=) c.1422C>T (p.Asp474=) c.1932C>T (p.Asp644=) c.1593C>T (p.Asp531=) c.1941C>T (p.Asp647=) c.2049C>T (p.Asp683=) c.2013C>T (p.Asp671=) c.1971C>T (p.Asp657=) c.1679+6212C>T (n.1679+6212C>T) c.2067C>T (p.Asp689=) c.2133C>T (p.Asp711=) c.2130C>T (p.Asp710=) c.2103C>T (p.Asp701=) c.2022C>T (p.Asp674=) c.2007C>T (p.Asp669=) c.1614C>T (p.Asp538=) c.2076C>T (p.Asp692=) c.2010C>T (p.Asp670=) c.1968C>T (p.Asp656=) c.1041C>T (p.Asp347=) | ClinVar gnomAD v4 |
| 20 | g.63407238G>C | CA9958168 | KCNQ2 | c.2079C>G (p.Asp693Glu) c.2025C>G (p.Asp675Glu) c.1422C>G (p.Asp474Glu) c.1932C>G (p.Asp644Glu) c.1593C>G (p.Asp531Glu) c.1941C>G (p.Asp647Glu) c.2049C>G (p.Asp683Glu) c.2013C>G (p.Asp671Glu) c.1971C>G (p.Asp657Glu) c.1679+6212C>G (n.1679+6212C>G) c.2067C>G (p.Asp689Glu) c.2133C>G (p.Asp711Glu) c.2130C>G (p.Asp710Glu) c.2103C>G (p.Asp701Glu) c.2022C>G (p.Asp674Glu) c.2007C>G (p.Asp669Glu) c.1614C>G (p.Asp538Glu) c.2076C>G (p.Asp692Glu) c.2010C>G (p.Asp670Glu) c.1968C>G (p.Asp656Glu) c.1041C>G (p.Asp347Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63407238G= | CA2374774503 | KCNQ2 | c.2079C= (p.Asp693=) c.2025C= (p.Asp675=) c.1422C= (p.Asp474=) c.1932C= (p.Asp644=) c.1593C= (p.Asp531=) c.1941C= (p.Asp647=) c.2049C= (p.Asp683=) c.2013C= (p.Asp671=) c.1971C= (p.Asp657=) c.1679+6212C= (n.1679+6212C=) c.2067C= (p.Asp689=) c.2133C= (p.Asp711=) c.2130C= (p.Asp710=) c.2103C= (p.Asp701=) c.2022C= (p.Asp674=) c.2007C= (p.Asp669=) c.1614C= (p.Asp538=) c.2076C= (p.Asp692=) c.2010C= (p.Asp670=) c.1968C= (p.Asp656=) c.1041C= (p.Asp347=) | |
| 20 | g.63407238G>T | CA409639156 | KCNQ2 | c.2079C>A (p.Asp693Glu) c.2025C>A (p.Asp675Glu) c.1422C>A (p.Asp474Glu) c.1932C>A (p.Asp644Glu) c.1593C>A (p.Asp531Glu) c.1941C>A (p.Asp647Glu) c.2049C>A (p.Asp683Glu) c.2013C>A (p.Asp671Glu) c.1971C>A (p.Asp657Glu) c.1679+6212C>A (n.1679+6212C>A) c.2067C>A (p.Asp689Glu) c.2133C>A (p.Asp711Glu) c.2130C>A (p.Asp710Glu) c.2103C>A (p.Asp701Glu) c.2022C>A (p.Asp674Glu) c.2007C>A (p.Asp669Glu) c.1614C>A (p.Asp538Glu) c.2076C>A (p.Asp692Glu) c.2010C>A (p.Asp670Glu) c.1968C>A (p.Asp656Glu) c.1041C>A (p.Asp347Glu) | gnomAD v4 |