Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63406588C>ACA2653803918KCNQ2c.*56G>T (n.*56G>T)
c.2243G>T (n.2243G>T)
c.2241+458G>T (n.2241+458G>T)
c.2205+458G>T (n.2205+458G>T)
c.2133+458G>T (n.2133+458G>T)
c.1680-5745G>T (n.1680-5745G>T)
 gnomAD v4
20g.63406588C>TCA2653803920KCNQ2c.*56G>A (n.*56G>A)
c.2243G>A (n.2243G>A)
c.2241+458G>A (n.2241+458G>A)
c.2205+458G>A (n.2205+458G>A)
c.2133+458G>A (n.2133+458G>A)
c.1680-5745G>A (n.1680-5745G>A)
 gnomAD v4
20g.63406589T>GCA2374774128KCNQ2c.*55A>C (n.*55A>C)
c.2242A>C (n.2242A>C)
c.2241+457A>C (n.2241+457A>C)
c.2205+457A>C (n.2205+457A>C)
c.2133+457A>C (n.2133+457A>C)
c.1680-5746A>C (n.1680-5746A>C)
 dbSNP
20g.63406589T=CA2374774127KCNQ2c.*55A= (n.*55A=)
c.2242A= (n.2242A=)
c.2241+457A= (n.2241+457A=)
c.2205+457A= (n.2205+457A=)
c.2133+457A= (n.2133+457A=)
c.1680-5746A= (n.1680-5746A=)
20g.63406590C>ACA2653803944KCNQ2c.*54G>T (n.*54G>T)
c.2241G>T (n.2241G>T)
c.2241+456G>T (n.2241+456G>T)
c.2205+456G>T (n.2205+456G>T)
c.2133+456G>T (n.2133+456G>T)
c.1680-5747G>T (n.1680-5747G>T)
 gnomAD v4
20g.63406590C>TCA2653803952KCNQ2c.*54G>A (n.*54G>A)
c.2241G>A (n.2241G>A)
c.2241+456G>A (n.2241+456G>A)
c.2205+456G>A (n.2205+456G>A)
c.2133+456G>A (n.2133+456G>A)
c.1680-5747G>A (n.1680-5747G>A)
 gnomAD v4
20g.63406591G>ACA317421305KCNQ2c.*53C>T (n.*53C>T)
c.2240C>T (n.2240C>T)
c.2241+455C>T (n.2241+455C>T)
c.2205+455C>T (n.2205+455C>T)
c.2133+455C>T (n.2133+455C>T)
c.1680-5748C>T (n.1680-5748C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406591G>CCA2653803959KCNQ2c.*53C>G (n.*53C>G)
c.2240C>G (n.2240C>G)
c.2241+455C>G (n.2241+455C>G)
c.2205+455C>G (n.2205+455C>G)
c.2133+455C>G (n.2133+455C>G)
c.1680-5748C>G (n.1680-5748C>G)
 gnomAD v4
20g.63406591G=CA2374774129KCNQ2c.*53C= (n.*53C=)
c.2240C= (n.2240C=)
c.2241+455C= (n.2241+455C=)
c.2205+455C= (n.2205+455C=)
c.2133+455C= (n.2133+455C=)
c.1680-5748C= (n.1680-5748C=)
20g.63406591G>TCA2653803963KCNQ2c.*53C>A (n.*53C>A)
c.2240C>A (n.2240C>A)
c.2241+455C>A (n.2241+455C>A)
c.2205+455C>A (n.2205+455C>A)
c.2133+455C>A (n.2133+455C>A)
c.1680-5748C>A (n.1680-5748C>A)
 gnomAD v4
20g.63406592delCA2577453405KCNQ2c.*53del (n.*53del)
c.2240del (n.2240del)
c.2241+455del (n.2241+455del)
c.2205+455del (n.2205+455del)
c.2133+455del (n.2133+455del)
c.1680-5748del (n.1680-5748del)
20g.63406592G>ACA317421310KCNQ2c.*52C>T (n.*52C>T)
c.2239C>T (n.2239C>T)
c.2241+454C>T (n.2241+454C>T)
c.2205+454C>T (n.2205+454C>T)
c.2133+454C>T (n.2133+454C>T)
c.1680-5749C>T (n.1680-5749C>T)
 dbSNP gnomAD v4
20g.63406592G>CCA2653803976KCNQ2c.*52C>G (n.*52C>G)
c.2239C>G (n.2239C>G)
c.2241+454C>G (n.2241+454C>G)
c.2205+454C>G (n.2205+454C>G)
c.2133+454C>G (n.2133+454C>G)
c.1680-5749C>G (n.1680-5749C>G)
 gnomAD v4
20g.63406592G=CA2374774130KCNQ2c.*52C= (n.*52C=)
c.2239C= (n.2239C=)
c.2241+454C= (n.2241+454C=)
c.2205+454C= (n.2205+454C=)
c.2133+454C= (n.2133+454C=)
c.1680-5749C= (n.1680-5749C=)
20g.63406592G>TCA1019288243KCNQ2c.*52C>A (n.*52C>A)
c.2239C>A (n.2239C>A)
c.2241+454C>A (n.2241+454C>A)
c.2205+454C>A (n.2205+454C>A)
c.2133+454C>A (n.2133+454C>A)
c.1680-5749C>A (n.1680-5749C>A)
 dbSNP gnomAD v4
20g.63406593A>GCA2653803983KCNQ2c.*51T>C (n.*51T>C)
c.2238T>C (n.2238T>C)
c.2241+453T>C (n.2241+453T>C)
c.2205+453T>C (n.2205+453T>C)
c.2133+453T>C (n.2133+453T>C)
c.1680-5750T>C (n.1680-5750T>C)
 gnomAD v4
20g.63406593A>TCA2653803985KCNQ2c.*51T>A (n.*51T>A)
c.2238T>A (n.2238T>A)
c.2241+453T>A (n.2241+453T>A)
c.2205+453T>A (n.2205+453T>A)
c.2133+453T>A (n.2133+453T>A)
c.1680-5750T>A (n.1680-5750T>A)
 gnomAD v4
20g.63406594G>ACA636340663KCNQ2c.*50C>T (n.*50C>T)
c.2237C>T (n.2237C>T)
c.2241+452C>T (n.2241+452C>T)
c.2205+452C>T (n.2205+452C>T)
c.2133+452C>T (n.2133+452C>T)
c.1680-5751C>T (n.1680-5751C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63406594G=CA2374774131KCNQ2c.*50C= (n.*50C=)
c.2237C= (n.2237C=)
c.2241+452C= (n.2241+452C=)
c.2205+452C= (n.2205+452C=)
c.2133+452C= (n.2133+452C=)
c.1680-5751C= (n.1680-5751C=)
20g.63406594G>TCA2653803988KCNQ2c.*50C>A (n.*50C>A)
c.2237C>A (n.2237C>A)
c.2241+452C>A (n.2241+452C>A)
c.2205+452C>A (n.2205+452C>A)
c.2133+452C>A (n.2133+452C>A)
c.1680-5751C>A (n.1680-5751C>A)
 gnomAD v4
20g.63406595G>ACA636340664KCNQ2c.*49C>T (n.*49C>T)
c.2236C>T (n.2236C>T)
c.2241+451C>T (n.2241+451C>T)
c.2205+451C>T (n.2205+451C>T)
c.2133+451C>T (n.2133+451C>T)
c.1680-5752C>T (n.1680-5752C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63406595G=CA2374774132KCNQ2c.*49C= (n.*49C=)
c.2236C= (n.2236C=)
c.2241+451C= (n.2241+451C=)
c.2205+451C= (n.2205+451C=)
c.2133+451C= (n.2133+451C=)
c.1680-5752C= (n.1680-5752C=)
20g.63406595G>TCA2653803991KCNQ2c.*49C>A (n.*49C>A)
c.2236C>A (n.2236C>A)
c.2241+451C>A (n.2241+451C>A)
c.2205+451C>A (n.2205+451C>A)
c.2133+451C>A (n.2133+451C>A)
c.1680-5752C>A (n.1680-5752C>A)
 gnomAD v4
20g.63406596C>ACA2653803992KCNQ2c.*48G>T (n.*48G>T)
c.2235G>T (n.2235G>T)
c.2241+450G>T (n.2241+450G>T)
c.2205+450G>T (n.2205+450G>T)
c.2133+450G>T (n.2133+450G>T)
c.1680-5753G>T (n.1680-5753G>T)
 gnomAD v4
20g.63406596C>TCA2653803993KCNQ2c.*48G>A (n.*48G>A)
c.2235G>A (n.2235G>A)
c.2241+450G>A (n.2241+450G>A)
c.2205+450G>A (n.2205+450G>A)
c.2133+450G>A (n.2133+450G>A)
c.1680-5753G>A (n.1680-5753G>A)
 gnomAD v4
20g.63406597A>GCA2653803994KCNQ2c.*47T>C (n.*47T>C)
c.2234T>C (n.2234T>C)
c.2241+449T>C (n.2241+449T>C)
c.2205+449T>C (n.2205+449T>C)
c.2133+449T>C (n.2133+449T>C)
c.1680-5754T>C (n.1680-5754T>C)
 gnomAD v4
20g.63406598C>ACA2653803996KCNQ2c.*46G>T (n.*46G>T)
c.2233G>T (n.2233G>T)
c.2241+448G>T (n.2241+448G>T)
c.2205+448G>T (n.2205+448G>T)
c.2133+448G>T (n.2133+448G>T)
c.1680-5755G>T (n.1680-5755G>T)
 gnomAD v4
20g.63406598C=CA2374774133KCNQ2c.*46G= (n.*46G=)
c.2233G= (n.2233G=)
c.2241+448G= (n.2241+448G=)
c.2205+448G= (n.2205+448G=)
c.2133+448G= (n.2133+448G=)
c.1680-5755G= (n.1680-5755G=)
20g.63406598C>TCA1019288244KCNQ2c.*46G>A (n.*46G>A)
c.2233G>A (n.2233G>A)
c.2241+448G>A (n.2241+448G>A)
c.2205+448G>A (n.2205+448G>A)
c.2133+448G>A (n.2133+448G>A)
c.1680-5755G>A (n.1680-5755G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.63406599C>ACA636340665KCNQ2c.*45G>T (n.*45G>T)
c.2232G>T (n.2232G>T)
c.2241+447G>T (n.2241+447G>T)
c.2205+447G>T (n.2205+447G>T)
c.2133+447G>T (n.2133+447G>T)
c.1680-5756G>T (n.1680-5756G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63406599C=CA2374774134KCNQ2c.*45G= (n.*45G=)
c.2232G= (n.2232G=)
c.2241+447G= (n.2241+447G=)
c.2205+447G= (n.2205+447G=)
c.2133+447G= (n.2133+447G=)
c.1680-5756G= (n.1680-5756G=)
20g.63406599C>GCA636340666KCNQ2c.*45G>C (n.*45G>C)
c.2232G>C (n.2232G>C)
c.2241+447G>C (n.2241+447G>C)
c.2205+447G>C (n.2205+447G>C)
c.2133+447G>C (n.2133+447G>C)
c.1680-5756G>C (n.1680-5756G>C)
 dbSNP gnomAD v2 gnomAD v4
20g.63406599C>TCA9958038KCNQ2c.*45G>A (n.*45G>A)
c.2232G>A (n.2232G>A)
c.2241+447G>A (n.2241+447G>A)
c.2205+447G>A (n.2205+447G>A)
c.2133+447G>A (n.2133+447G>A)
c.1680-5756G>A (n.1680-5756G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406600G>ACA9958039KCNQ2c.*44C>T (n.*44C>T)
c.2231C>T (n.2231C>T)
c.2241+446C>T (n.2241+446C>T)
c.2205+446C>T (n.2205+446C>T)
c.2133+446C>T (n.2133+446C>T)
c.1680-5757C>T (n.1680-5757C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406600G=CA2374774136KCNQ2c.*44C= (n.*44C=)
c.2231C= (n.2231C=)
c.2241+446C= (n.2241+446C=)
c.2205+446C= (n.2205+446C=)
c.2133+446C= (n.2133+446C=)
c.1680-5757C= (n.1680-5757C=)
20g.63406600G>TCA2374774135KCNQ2c.*44C>A (n.*44C>A)
c.2231C>A (n.2231C>A)
c.2241+446C>A (n.2241+446C>A)
c.2205+446C>A (n.2205+446C>A)
c.2133+446C>A (n.2133+446C>A)
c.1680-5757C>A (n.1680-5757C>A)
 dbSNP gnomAD v4
20g.63406601T>CCA2653804002KCNQ2c.*43A>G (n.*43A>G)
c.2230A>G (n.2230A>G)
c.2241+445A>G (n.2241+445A>G)
c.2205+445A>G (n.2205+445A>G)
c.2133+445A>G (n.2133+445A>G)
c.1680-5758A>G (n.1680-5758A>G)
 gnomAD v4
20g.63406602G>ACA636340667KCNQ2c.*42C>T (n.*42C>T)
c.2229C>T (n.2229C>T)
c.2241+444C>T (n.2241+444C>T)
c.2205+444C>T (n.2205+444C>T)
c.2133+444C>T (n.2133+444C>T)
c.1680-5759C>T (n.1680-5759C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63406602G=CA2374774137KCNQ2c.*42C= (n.*42C=)
c.2229C= (n.2229C=)
c.2241+444C= (n.2241+444C=)
c.2205+444C= (n.2205+444C=)
c.2133+444C= (n.2133+444C=)
c.1680-5759C= (n.1680-5759C=)
20g.63406602G>TCA2653804004KCNQ2c.*42C>A (n.*42C>A)
c.2229C>A (n.2229C>A)
c.2241+444C>A (n.2241+444C>A)
c.2205+444C>A (n.2205+444C>A)
c.2133+444C>A (n.2133+444C>A)
c.1680-5759C>A (n.1680-5759C>A)
 gnomAD v4
20g.63406603C>ACA746467611KCNQ2c.*41G>T (n.*41G>T)
c.2228G>T (n.2228G>T)
c.2241+443G>T (n.2241+443G>T)
c.2205+443G>T (n.2205+443G>T)
c.2133+443G>T (n.2133+443G>T)
c.1680-5760G>T (n.1680-5760G>T)
 dbSNP gnomAD v4
20g.63406603C=CA2374774138KCNQ2c.*41G= (n.*41G=)
c.2228G= (n.2228G=)
c.2241+443G= (n.2241+443G=)
c.2205+443G= (n.2205+443G=)
c.2133+443G= (n.2133+443G=)
c.1680-5760G= (n.1680-5760G=)
20g.63406603C>GCA2653804008KCNQ2c.*41G>C (n.*41G>C)
c.2228G>C (n.2228G>C)
c.2241+443G>C (n.2241+443G>C)
c.2205+443G>C (n.2205+443G>C)
c.2133+443G>C (n.2133+443G>C)
c.1680-5760G>C (n.1680-5760G>C)
 gnomAD v4
20g.63406603C>TCA2653804010KCNQ2c.*41G>A (n.*41G>A)
c.2228G>A (n.2228G>A)
c.2241+443G>A (n.2241+443G>A)
c.2205+443G>A (n.2205+443G>A)
c.2133+443G>A (n.2133+443G>A)
c.1680-5760G>A (n.1680-5760G>A)
 gnomAD v4
20g.63406604T>ACA636340668KCNQ2c.*40A>T (n.*40A>T)
c.2227A>T (n.2227A>T)
c.2241+442A>T (n.2241+442A>T)
c.2205+442A>T (n.2205+442A>T)
c.2133+442A>T (n.2133+442A>T)
c.1680-5761A>T (n.1680-5761A>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63406604T>CCA2653804016KCNQ2c.*40A>G (n.*40A>G)
c.2227A>G (n.2227A>G)
c.2241+442A>G (n.2241+442A>G)
c.2205+442A>G (n.2205+442A>G)
c.2133+442A>G (n.2133+442A>G)
c.1680-5761A>G (n.1680-5761A>G)
 gnomAD v4
20g.63406604T=CA2374774140KCNQ2c.*40A= (n.*40A=)
c.2227A= (n.2227A=)
c.2241+442A= (n.2241+442A=)
c.2205+442A= (n.2205+442A=)
c.2133+442A= (n.2133+442A=)
c.1680-5761A= (n.1680-5761A=)
20g.63406604_63406607delinsTGAGCA2374774139KCNQ2c.*37_*40delinsCTCA (n.*37_*40delinsCTCA)
c.2224_2227delinsCTCA (n.2224_2227delinsCTCA)
c.2241+439_2241+442delinsCTCA (n.2241+439_2241+442delinsCTCA)
c.2205+439_2205+442delinsCTCA (n.2205+439_2205+442delinsCTCA)
c.2133+439_2133+442delinsCTCA (n.2133+439_2133+442delinsCTCA)
c.1680-5764_1680-5761delinsCTCA (n.1680-5764_1680-5761delinsCTCA)
20g.63406605G>ACA9958040KCNQ2c.*39C>T (n.*39C>T)
c.2226C>T (n.2226C>T)
c.2241+441C>T (n.2241+441C>T)
c.2205+441C>T (n.2205+441C>T)
c.2133+441C>T (n.2133+441C>T)
c.1680-5762C>T (n.1680-5762C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406605G=CA2374774141KCNQ2c.*39C= (n.*39C=)
c.2226C= (n.2226C=)
c.2241+441C= (n.2241+441C=)
c.2205+441C= (n.2205+441C=)
c.2133+441C= (n.2133+441C=)
c.1680-5762C= (n.1680-5762C=)
20g.63406605G>TCA2653804024KCNQ2c.*39C>A (n.*39C>A)
c.2226C>A (n.2226C>A)
c.2241+441C>A (n.2241+441C>A)
c.2205+441C>A (n.2205+441C>A)
c.2133+441C>A (n.2133+441C>A)
c.1680-5762C>A (n.1680-5762C>A)
 gnomAD v4
20g.63406609_63406611delCA636340669KCNQ2c.*37_*39del (n.*37_*39del)
c.2224_2226del (n.2224_2226del)
c.2241+439_2241+441del (n.2241+439_2241+441del)
c.2205+439_2205+441del (n.2205+439_2205+441del)
c.2133+439_2133+441del (n.2133+439_2133+441del)
c.1680-5764_1680-5762del (n.1680-5764_1680-5762del)
 dbSNP gnomAD v2 gnomAD v4
20g.63406606A>GCA2653804032KCNQ2c.*38T>C (n.*38T>C)
c.2225T>C (n.2225T>C)
c.2241+440T>C (n.2241+440T>C)
c.2205+440T>C (n.2205+440T>C)
c.2133+440T>C (n.2133+440T>C)
c.1680-5763T>C (n.1680-5763T>C)
 gnomAD v4
20g.63406607G>ACA2374774143KCNQ2c.*37C>T (n.*37C>T)
c.2224C>T (n.2224C>T)
c.2241+439C>T (n.2241+439C>T)
c.2205+439C>T (n.2205+439C>T)
c.2133+439C>T (n.2133+439C>T)
c.1680-5764C>T (n.1680-5764C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.63406607G>CCA2653804035KCNQ2c.*37C>G (n.*37C>G)
c.2224C>G (n.2224C>G)
c.2241+439C>G (n.2241+439C>G)
c.2205+439C>G (n.2205+439C>G)
c.2133+439C>G (n.2133+439C>G)
c.1680-5764C>G (n.1680-5764C>G)
 gnomAD v4
20g.63406607G=CA2374774142KCNQ2c.*37C= (n.*37C=)
c.2224C= (n.2224C=)
c.2241+439C= (n.2241+439C=)
c.2205+439C= (n.2205+439C=)
c.2133+439C= (n.2133+439C=)
c.1680-5764C= (n.1680-5764C=)
20g.63406607G>TCA2653804038KCNQ2c.*37C>A (n.*37C>A)
c.2224C>A (n.2224C>A)
c.2241+439C>A (n.2241+439C>A)
c.2205+439C>A (n.2205+439C>A)
c.2133+439C>A (n.2133+439C>A)
c.1680-5764C>A (n.1680-5764C>A)
 gnomAD v4
20g.63406608G>ACA636340670KCNQ2c.*36C>T (n.*36C>T)
c.2223C>T (n.2223C>T)
c.2241+438C>T (n.2241+438C>T)
c.2205+438C>T (n.2205+438C>T)
c.2133+438C>T (n.2133+438C>T)
c.1680-5765C>T (n.1680-5765C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406608G>CCA2653804041KCNQ2c.*36C>G (n.*36C>G)
c.2223C>G (n.2223C>G)
c.2241+438C>G (n.2241+438C>G)
c.2205+438C>G (n.2205+438C>G)
c.2133+438C>G (n.2133+438C>G)
c.1680-5765C>G (n.1680-5765C>G)
 gnomAD v4
20g.63406608G=CA2374774144KCNQ2c.*36C= (n.*36C=)
c.2223C= (n.2223C=)
c.2241+438C= (n.2241+438C=)
c.2205+438C= (n.2205+438C=)
c.2133+438C= (n.2133+438C=)
c.1680-5765C= (n.1680-5765C=)
20g.63406608G>TCA2653804040KCNQ2c.*36C>A (n.*36C>A)
c.2223C>A (n.2223C>A)
c.2241+438C>A (n.2241+438C>A)
c.2205+438C>A (n.2205+438C>A)
c.2133+438C>A (n.2133+438C>A)
c.1680-5765C>A (n.1680-5765C>A)
 gnomAD v4
20g.63406609delCA2653804044KCNQ2c.*35del (n.*35del)
c.2222del (n.2222del)
c.2241+437del (n.2241+437del)
c.2205+437del (n.2205+437del)
c.2133+437del (n.2133+437del)
c.1680-5766del (n.1680-5766del)
 gnomAD v4
20g.63406609A>GCA2653804045KCNQ2c.*35T>C (n.*35T>C)
c.2222T>C (n.2222T>C)
c.2241+437T>C (n.2241+437T>C)
c.2205+437T>C (n.2205+437T>C)
c.2133+437T>C (n.2133+437T>C)
c.1680-5766T>C (n.1680-5766T>C)
 gnomAD v4
20g.63406610G>ACA2653804049KCNQ2c.*34C>T (n.*34C>T)
c.2221C>T (n.2221C>T)
c.2241+436C>T (n.2241+436C>T)
c.2205+436C>T (n.2205+436C>T)
c.2133+436C>T (n.2133+436C>T)
c.1680-5767C>T (n.1680-5767C>T)
 gnomAD v4
20g.63406610G>TCA2653804050KCNQ2c.*34C>A (n.*34C>A)
c.2221C>A (n.2221C>A)
c.2241+436C>A (n.2241+436C>A)
c.2205+436C>A (n.2205+436C>A)
c.2133+436C>A (n.2133+436C>A)
c.1680-5767C>A (n.1680-5767C>A)
 gnomAD v4
20g.63406611G>ACA636340671KCNQ2c.*33C>T (n.*33C>T)
c.2220C>T (n.2220C>T)
c.2241+435C>T (n.2241+435C>T)
c.2205+435C>T (n.2205+435C>T)
c.2133+435C>T (n.2133+435C>T)
c.1680-5768C>T (n.1680-5768C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63406611G=CA2374774145KCNQ2c.*33C= (n.*33C=)
c.2220C= (n.2220C=)
c.2241+435C= (n.2241+435C=)
c.2205+435C= (n.2205+435C=)
c.2133+435C= (n.2133+435C=)
c.1680-5768C= (n.1680-5768C=)
20g.63406611G>TCA2653804052KCNQ2c.*33C>A (n.*33C>A)
c.2220C>A (n.2220C>A)
c.2241+435C>A (n.2241+435C>A)
c.2205+435C>A (n.2205+435C>A)
c.2133+435C>A (n.2133+435C>A)
c.1680-5768C>A (n.1680-5768C>A)
 gnomAD v4
20g.63406612G>ACA2653804054KCNQ2c.*32C>T (n.*32C>T)
c.2219C>T (n.2219C>T)
c.2241+434C>T (n.2241+434C>T)
c.2205+434C>T (n.2205+434C>T)
c.2133+434C>T (n.2133+434C>T)
c.1680-5769C>T (n.1680-5769C>T)
 gnomAD v4
20g.63406612G>TCA2653804055KCNQ2c.*32C>A (n.*32C>A)
c.2219C>A (n.2219C>A)
c.2241+434C>A (n.2241+434C>A)
c.2205+434C>A (n.2205+434C>A)
c.2133+434C>A (n.2133+434C>A)
c.1680-5769C>A (n.1680-5769C>A)
 gnomAD v4
20g.63406613C>ACA2653804056KCNQ2c.*31G>T (n.*31G>T)
c.2218G>T (n.2218G>T)
c.2241+433G>T (n.2241+433G>T)
c.2205+433G>T (n.2205+433G>T)
c.2133+433G>T (n.2133+433G>T)
c.1680-5770G>T (n.1680-5770G>T)
 gnomAD v4
20g.63406613C>TCA2653804057KCNQ2c.*31G>A (n.*31G>A)
c.2218G>A (n.2218G>A)
c.2241+433G>A (n.2241+433G>A)
c.2205+433G>A (n.2205+433G>A)
c.2133+433G>A (n.2133+433G>A)
c.1680-5770G>A (n.1680-5770G>A)
 gnomAD v4
20g.63406614C>ACA2653804059KCNQ2c.*30G>T (n.*30G>T)
c.2217G>T (n.2217G>T)
c.2241+432G>T (n.2241+432G>T)
c.2205+432G>T (n.2205+432G>T)
c.2133+432G>T (n.2133+432G>T)
c.1680-5771G>T (n.1680-5771G>T)
 gnomAD v4
20g.63406614C=CA2374774146KCNQ2c.*30G= (n.*30G=)
c.2217G= (n.2217G=)
c.2241+432G= (n.2241+432G=)
c.2205+432G= (n.2205+432G=)
c.2133+432G= (n.2133+432G=)
c.1680-5771G= (n.1680-5771G=)
20g.63406614C>GCA2653804060KCNQ2c.*30G>C (n.*30G>C)
c.2217G>C (n.2217G>C)
c.2241+432G>C (n.2241+432G>C)
c.2205+432G>C (n.2205+432G>C)
c.2133+432G>C (n.2133+432G>C)
c.1680-5771G>C (n.1680-5771G>C)
 gnomAD v4
20g.63406614C>TCA9958041KCNQ2c.*30G>A (n.*30G>A)
c.2217G>A (n.2217G>A)
c.2241+432G>A (n.2241+432G>A)
c.2205+432G>A (n.2205+432G>A)
c.2133+432G>A (n.2133+432G>A)
c.1680-5771G>A (n.1680-5771G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406615G>ACA9958042KCNQ2c.*29C>T (n.*29C>T)
c.2216C>T (n.2216C>T)
c.2241+431C>T (n.2241+431C>T)
c.2205+431C>T (n.2205+431C>T)
c.2133+431C>T (n.2133+431C>T)
c.1680-5772C>T (n.1680-5772C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406615G=CA2374774147KCNQ2c.*29C= (n.*29C=)
c.2216C= (n.2216C=)
c.2241+431C= (n.2241+431C=)
c.2205+431C= (n.2205+431C=)
c.2133+431C= (n.2133+431C=)
c.1680-5772C= (n.1680-5772C=)
20g.63406615G>TCA2653804065KCNQ2c.*29C>A (n.*29C>A)
c.2216C>A (n.2216C>A)
c.2241+431C>A (n.2241+431C>A)
c.2205+431C>A (n.2205+431C>A)
c.2133+431C>A (n.2133+431C>A)
c.1680-5772C>A (n.1680-5772C>A)
 gnomAD v4
20g.63406616C>ACA636340674KCNQ2c.*28G>T (n.*28G>T)
c.2215G>T (n.2215G>T)
c.2241+430G>T (n.2241+430G>T)
c.2205+430G>T (n.2205+430G>T)
c.2133+430G>T (n.2133+430G>T)
c.1680-5773G>T (n.1680-5773G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406616C=CA2374774148KCNQ2c.*28G= (n.*28G=)
c.2215G= (n.2215G=)
c.2241+430G= (n.2241+430G=)
c.2205+430G= (n.2205+430G=)
c.2133+430G= (n.2133+430G=)
c.1680-5773G= (n.1680-5773G=)
20g.63406616C>GCA2374774149KCNQ2c.*28G>C (n.*28G>C)
c.2215G>C (n.2215G>C)
c.2241+430G>C (n.2241+430G>C)
c.2205+430G>C (n.2205+430G>C)
c.2133+430G>C (n.2133+430G>C)
c.1680-5773G>C (n.1680-5773G>C)
 dbSNP gnomAD v4
20g.63406616C>TCA9958043KCNQ2c.*28G>A (n.*28G>A)
c.2215G>A (n.2215G>A)
c.2241+430G>A (n.2241+430G>A)
c.2205+430G>A (n.2205+430G>A)
c.2133+430G>A (n.2133+430G>A)
c.1680-5773G>A (n.1680-5773G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406617G>ACA9958044KCNQ2c.*27C>T (n.*27C>T)
c.2214C>T (n.2214C>T)
c.2241+429C>T (n.2241+429C>T)
c.2205+429C>T (n.2205+429C>T)
c.2133+429C>T (n.2133+429C>T)
c.1680-5774C>T (n.1680-5774C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406617G>CCA746467615KCNQ2c.*27C>G (n.*27C>G)
c.2214C>G (n.2214C>G)
c.2241+429C>G (n.2241+429C>G)
c.2205+429C>G (n.2205+429C>G)
c.2133+429C>G (n.2133+429C>G)
c.1680-5774C>G (n.1680-5774C>G)
 dbSNP gnomAD v4
20g.63406617G=CA2374774150KCNQ2c.*27C= (n.*27C=)
c.2214C= (n.2214C=)
c.2241+429C= (n.2241+429C=)
c.2205+429C= (n.2205+429C=)
c.2133+429C= (n.2133+429C=)
c.1680-5774C= (n.1680-5774C=)
20g.63406617G>TCA2653804082KCNQ2c.*27C>A (n.*27C>A)
c.2214C>A (n.2214C>A)
c.2241+429C>A (n.2241+429C>A)
c.2205+429C>A (n.2205+429C>A)
c.2133+429C>A (n.2133+429C>A)
c.1680-5774C>A (n.1680-5774C>A)
 gnomAD v4
20g.63406619delCA2653804081KCNQ2c.*27del (n.*27del)
c.2214del (n.2214del)
c.2241+429del (n.2241+429del)
c.2205+429del (n.2205+429del)
c.2133+429del (n.2133+429del)
c.1680-5774del (n.1680-5774del)
 gnomAD v4
20g.63406618G>TCA2653804091KCNQ2c.*26C>A (n.*26C>A)
c.2213C>A (n.2213C>A)
c.2241+428C>A (n.2241+428C>A)
c.2205+428C>A (n.2205+428C>A)
c.2133+428C>A (n.2133+428C>A)
c.1680-5775C>A (n.1680-5775C>A)
 gnomAD v4
20g.63406619G>ACA317421391KCNQ2c.*25C>T (n.*25C>T)
c.2212C>T (n.2212C>T)
c.2241+427C>T (n.2241+427C>T)
c.2205+427C>T (n.2205+427C>T)
c.2133+427C>T (n.2133+427C>T)
c.1680-5776C>T (n.1680-5776C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.63406619G=CA2374774151KCNQ2c.*25C= (n.*25C=)
c.2212C= (n.2212C=)
c.2241+427C= (n.2241+427C=)
c.2205+427C= (n.2205+427C=)
c.2133+427C= (n.2133+427C=)
c.1680-5776C= (n.1680-5776C=)
20g.63406619G>TCA2653804092KCNQ2c.*25C>A (n.*25C>A)
c.2212C>A (n.2212C>A)
c.2241+427C>A (n.2241+427C>A)
c.2205+427C>A (n.2205+427C>A)
c.2133+427C>A (n.2133+427C>A)
c.1680-5776C>A (n.1680-5776C>A)
 gnomAD v4
20g.63406619_63406620delinsGCCA2374774152KCNQ2c.*24_*25delinsGC (n.*24_*25delinsGC)
c.2211_2212delinsGC (n.2211_2212delinsGC)
c.2241+426_2241+427delinsGC (n.2241+426_2241+427delinsGC)
c.2205+426_2205+427delinsGC (n.2205+426_2205+427delinsGC)
c.2133+426_2133+427delinsGC (n.2133+426_2133+427delinsGC)
c.1680-5777_1680-5776delinsGC (n.1680-5777_1680-5776delinsGC)
20g.63406620delCA1019288245KCNQ2c.*24del (n.*24del)
c.2211del (n.2211del)
c.2241+426del (n.2241+426del)
c.2205+426del (n.2205+426del)
c.2133+426del (n.2133+426del)
c.1680-5777del (n.1680-5777del)
 dbSNP gnomAD v3 gnomAD v4
20g.63406620C>ACA2653804098KCNQ2c.*24G>T (n.*24G>T)
c.2211G>T (n.2211G>T)
c.2241+426G>T (n.2241+426G>T)
c.2205+426G>T (n.2205+426G>T)
c.2133+426G>T (n.2133+426G>T)
c.1680-5777G>T (n.1680-5777G>T)
 gnomAD v4
20g.63406620C=CA2374774153KCNQ2c.*24G= (n.*24G=)
c.2211G= (n.2211G=)
c.2241+426G= (n.2241+426G=)
c.2205+426G= (n.2205+426G=)
c.2133+426G= (n.2133+426G=)
c.1680-5777G= (n.1680-5777G=)
20g.63406620C>GCA2653804099KCNQ2c.*24G>C (n.*24G>C)
c.2211G>C (n.2211G>C)
c.2241+426G>C (n.2241+426G>C)
c.2205+426G>C (n.2205+426G>C)
c.2133+426G>C (n.2133+426G>C)
c.1680-5777G>C (n.1680-5777G>C)
 gnomAD v4
20g.63406620C>TCA9958045KCNQ2c.*24G>A (n.*24G>A)
c.2211G>A (n.2211G>A)
c.2241+426G>A (n.2241+426G>A)
c.2205+426G>A (n.2205+426G>A)
c.2133+426G>A (n.2133+426G>A)
c.1680-5777G>A (n.1680-5777G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406621G>ACA317421400KCNQ2c.*23C>T (n.*23C>T)
c.2210C>T (n.2210C>T)
c.2241+425C>T (n.2241+425C>T)
c.2205+425C>T (n.2205+425C>T)
c.2133+425C>T (n.2133+425C>T)
c.1680-5778C>T (n.1680-5778C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406621G>CCA636340681KCNQ2c.*23C>G (n.*23C>G)
c.2210C>G (n.2210C>G)
c.2241+425C>G (n.2241+425C>G)
c.2205+425C>G (n.2205+425C>G)
c.2133+425C>G (n.2133+425C>G)
c.1680-5778C>G (n.1680-5778C>G)
 dbSNP gnomAD v2 gnomAD v4
20g.63406621G=CA2374774154KCNQ2c.*23C= (n.*23C=)
c.2210C= (n.2210C=)
c.2241+425C= (n.2241+425C=)
c.2205+425C= (n.2205+425C=)
c.2133+425C= (n.2133+425C=)
c.1680-5778C= (n.1680-5778C=)
20g.63406621G>TCA9958046KCNQ2c.*23C>A (n.*23C>A)
c.2210C>A (n.2210C>A)
c.2241+425C>A (n.2241+425C>A)
c.2205+425C>A (n.2205+425C>A)
c.2133+425C>A (n.2133+425C>A)
c.1680-5778C>A (n.1680-5778C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406622G>ACA317421403KCNQ2c.*22C>T (n.*22C>T)
c.2209C>T (n.2209C>T)
c.2241+424C>T (n.2241+424C>T)
c.2205+424C>T (n.2205+424C>T)
c.2133+424C>T (n.2133+424C>T)
c.1680-5779C>T (n.1680-5779C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.63406622G=CA2374774155KCNQ2c.*22C= (n.*22C=)
c.2209C= (n.2209C=)
c.2241+424C= (n.2241+424C=)
c.2205+424C= (n.2205+424C=)
c.2133+424C= (n.2133+424C=)
c.1680-5779C= (n.1680-5779C=)
20g.63406622G>TCA2653804108KCNQ2c.*22C>A (n.*22C>A)
c.2209C>A (n.2209C>A)
c.2241+424C>A (n.2241+424C>A)
c.2205+424C>A (n.2205+424C>A)
c.2133+424C>A (n.2133+424C>A)
c.1680-5779C>A (n.1680-5779C>A)
 gnomAD v4
20g.63406623G>TCA2653804111KCNQ2c.*21C>A (n.*21C>A)
c.2208C>A (n.2208C>A)
c.2241+423C>A (n.2241+423C>A)
c.2205+423C>A (n.2205+423C>A)
c.2133+423C>A (n.2133+423C>A)
c.1680-5780C>A (n.1680-5780C>A)
 gnomAD v4
20g.63406624T>ACA2653804113KCNQ2c.*20A>T (n.*20A>T)
c.2207A>T (n.2207A>T)
c.2241+422A>T (n.2241+422A>T)
c.2205+422A>T (n.2205+422A>T)
c.2133+422A>T (n.2133+422A>T)
c.1680-5781A>T (n.1680-5781A>T)
 gnomAD v4
20g.63406624T>CCA2653804115KCNQ2c.*20A>G (n.*20A>G)
c.2207A>G (n.2207A>G)
c.2241+422A>G (n.2241+422A>G)
c.2205+422A>G (n.2205+422A>G)
c.2133+422A>G (n.2133+422A>G)
c.1680-5781A>G (n.1680-5781A>G)
 gnomAD v4
20g.63406624T>GCA636340684KCNQ2c.*20A>C (n.*20A>C)
c.2207A>C (n.2207A>C)
c.2241+422A>C (n.2241+422A>C)
c.2205+422A>C (n.2205+422A>C)
c.2133+422A>C (n.2133+422A>C)
c.1680-5781A>C (n.1680-5781A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406624T=CA2374774156KCNQ2c.*20A= (n.*20A=)
c.2207A= (n.2207A=)
c.2241+422A= (n.2241+422A=)
c.2205+422A= (n.2205+422A=)
c.2133+422A= (n.2133+422A=)
c.1680-5781A= (n.1680-5781A=)
20g.63406625C>ACA2653804118KCNQ2c.*19G>T (n.*19G>T)
c.2206G>T (n.2206G>T)
c.2241+421G>T (n.2241+421G>T)
c.2205+421G>T (n.2205+421G>T)
c.2133+421G>T (n.2133+421G>T)
c.1680-5782G>T (n.1680-5782G>T)
 gnomAD v4
20g.63406625C=CA2374774157KCNQ2c.*19G= (n.*19G=)
c.2206G= (n.2206G=)
c.2241+421G= (n.2241+421G=)
c.2205+421G= (n.2205+421G=)
c.2133+421G= (n.2133+421G=)
c.1680-5782G= (n.1680-5782G=)
20g.63406625C>GCA746467623KCNQ2c.*19G>C (n.*19G>C)
c.2206G>C (n.2206G>C)
c.2241+421G>C (n.2241+421G>C)
c.2205+421G>C (n.2205+421G>C)
c.2133+421G>C (n.2133+421G>C)
c.1680-5782G>C (n.1680-5782G>C)
 dbSNP gnomAD v3 gnomAD v4
20g.63406626C>ACA2653804120KCNQ2c.*18G>T (n.*18G>T)
c.2205G>T (n.2205G>T)
c.2241+420G>T (n.2241+420G>T)
c.2205+420G>T (n.2205+420G>T)
c.2133+420G>T (n.2133+420G>T)
c.1680-5783G>T (n.1680-5783G>T)
 gnomAD v4
20g.63406626C>TCA2653804121KCNQ2c.*18G>A (n.*18G>A)
c.2205G>A (n.2205G>A)
c.2241+420G>A (n.2241+420G>A)
c.2205+420G>A (n.2205+420G>A)
c.2133+420G>A (n.2133+420G>A)
c.1680-5783G>A (n.1680-5783G>A)
 gnomAD v4
20g.63406627A>GCA2653804126KCNQ2c.*17T>C (n.*17T>C)
c.2204T>C (n.2204T>C)
c.2241+419T>C (n.2241+419T>C)
c.2205+419T>C (n.2205+419T>C)
c.2133+419T>C (n.2133+419T>C)
c.1680-5784T>C (n.1680-5784T>C)
 gnomAD v4
20g.63406628C>ACA2653804128KCNQ2c.*16G>T (n.*16G>T)
c.2203G>T (n.2203G>T)
c.2241+418G>T (n.2241+418G>T)
c.2205+418G>T (n.2205+418G>T)
c.2133+418G>T (n.2133+418G>T)
c.1680-5785G>T (n.1680-5785G>T)
 gnomAD v4
20g.63406628C>GCA2577453406KCNQ2c.*16G>C (n.*16G>C)
c.2203G>C (n.2203G>C)
c.2241+418G>C (n.2241+418G>C)
c.2205+418G>C (n.2205+418G>C)
c.2133+418G>C (n.2133+418G>C)
c.1680-5785G>C (n.1680-5785G>C)
20g.63406628C>TCA2653804130KCNQ2c.*16G>A (n.*16G>A)
c.2203G>A (n.2203G>A)
c.2241+418G>A (n.2241+418G>A)
c.2205+418G>A (n.2205+418G>A)
c.2133+418G>A (n.2133+418G>A)
c.1680-5785G>A (n.1680-5785G>A)
 gnomAD v4
20g.63406629T>ACA2653804133KCNQ2c.*15A>T (n.*15A>T)
c.2202A>T (n.2202A>T)
c.2241+417A>T (n.2241+417A>T)
c.2205+417A>T (n.2205+417A>T)
c.2133+417A>T (n.2133+417A>T)
c.1680-5786A>T (n.1680-5786A>T)
 gnomAD v4
20g.63406629T>CCA636614155KCNQ2c.*15A>G (n.*15A>G)
c.2202A>G (n.2202A>G)
c.2241+417A>G (n.2241+417A>G)
c.2205+417A>G (n.2205+417A>G)
c.2133+417A>G (n.2133+417A>G)
c.1680-5786A>G (n.1680-5786A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.63406629T=CA2374774158KCNQ2c.*15A= (n.*15A=)
c.2202A= (n.2202A=)
c.2241+417A= (n.2241+417A=)
c.2205+417A= (n.2205+417A=)
c.2133+417A= (n.2133+417A=)
c.1680-5786A= (n.1680-5786A=)
20g.63406630G>ACA2653804143KCNQ2c.*14C>T (n.*14C>T)
c.2201C>T (n.2201C>T)
c.2241+416C>T (n.2241+416C>T)
c.2205+416C>T (n.2205+416C>T)
c.2133+416C>T (n.2133+416C>T)
c.1680-5787C>T (n.1680-5787C>T)
 gnomAD v4
20g.63406630G>TCA2653804145KCNQ2c.*14C>A (n.*14C>A)
c.2201C>A (n.2201C>A)
c.2241+416C>A (n.2241+416C>A)
c.2205+416C>A (n.2205+416C>A)
c.2133+416C>A (n.2133+416C>A)
c.1680-5787C>A (n.1680-5787C>A)
 gnomAD v4
20g.63406631delCA2653804140KCNQ2c.*14del (n.*14del)
c.2201del (n.2201del)
c.2241+416del (n.2241+416del)
c.2205+416del (n.2205+416del)
c.2133+416del (n.2133+416del)
c.1680-5787del (n.1680-5787del)
 gnomAD v4
20g.63406638_63406666delCA2653804141KCNQ2c.2659_*14del (n.[c.2659_*14del;Gly887SerfsTer28])
c.2605_*14del (n.[c.2605_*14del;Gly869SerfsTer28])
c.2002_*14del (n.[c.2002_*14del;Gly668SerfsTer28])
c.2512_*14del (n.[c.2512_*14del;Gly838SerfsTer28])
c.2173_2201del (n.[c.2173_2201del;Gly725SerfsTer28])
c.2521_*14del (n.[c.2521_*14del;Gly841SerfsTer28])
c.2241+388_2241+416del (n.2241+388_2241+416del)
c.2205+388_2205+416del (n.2205+388_2205+416del)
c.2551_*14del (n.[c.2551_*14del;Gly851SerfsTer28])
c.2133+388_2133+416del (n.2133+388_2133+416del)
c.1680-5815_1680-5787del (n.1680-5815_1680-5787del)
c.2647_*14del (n.[c.2647_*14del;Gly883SerfsTer28])
c.2713_*14del (n.[c.2713_*14del;Gly905SerfsTer28])
c.2710_*14del (n.[c.2710_*14del;Gly904SerfsTer28])
c.2683_*14del (n.[c.2683_*14del;Gly895SerfsTer28])
c.2629_*14del (n.[c.2629_*14del;Gly877SerfsTer28])
c.2602_*14del (n.[c.2602_*14del;Gly868SerfsTer28])
c.2587_*14del (n.[c.2587_*14del;Gly863SerfsTer28])
c.2194_*14del (n.[c.2194_*14del;Gly732SerfsTer28])
c.2656_*14del (n.[c.2656_*14del;Gly886SerfsTer28])
c.2593_*14del (n.[c.2593_*14del;Gly865SerfsTer28])
c.2590_*14del (n.[c.2590_*14del;Gly864SerfsTer28])
c.2548_*14del (n.[c.2548_*14del;Gly850SerfsTer28])
c.1621_*14del (n.[c.1621_*14del;Gly541SerfsTer28])
 gnomAD v4
20g.63406631G>ACA2653804146KCNQ2c.*13C>T (n.*13C>T)
c.2200C>T (n.2200C>T)
c.2241+415C>T (n.2241+415C>T)
c.2205+415C>T (n.2205+415C>T)
c.2133+415C>T (n.2133+415C>T)
c.1680-5788C>T (n.1680-5788C>T)
 gnomAD v4
20g.63406631G=CA2374774159KCNQ2c.*13C= (n.*13C=)
c.2200C= (n.2200C=)
c.2241+415C= (n.2241+415C=)
c.2205+415C= (n.2205+415C=)
c.2133+415C= (n.2133+415C=)
c.1680-5788C= (n.1680-5788C=)
20g.63406631G>TCA1019288246KCNQ2c.*13C>A (n.*13C>A)
c.2200C>A (n.2200C>A)
c.2241+415C>A (n.2241+415C>A)
c.2205+415C>A (n.2205+415C>A)
c.2133+415C>A (n.2133+415C>A)
c.1680-5788C>A (n.1680-5788C>A)
 dbSNP gnomAD v3 gnomAD v4
20g.63406632C>ACA2653804152KCNQ2c.*12G>T (n.*12G>T)
c.2199G>T (n.2199G>T)
c.2241+414G>T (n.2241+414G>T)
c.2205+414G>T (n.2205+414G>T)
c.2133+414G>T (n.2133+414G>T)
c.1680-5789G>T (n.1680-5789G>T)
 gnomAD v4
20g.63406632C=CA2374774160KCNQ2c.*12G= (n.*12G=)
c.2199G= (n.2199G=)
c.2241+414G= (n.2241+414G=)
c.2205+414G= (n.2205+414G=)
c.2133+414G= (n.2133+414G=)
c.1680-5789G= (n.1680-5789G=)
20g.63406632C>TCA9958047KCNQ2c.*12G>A (n.*12G>A)
c.2199G>A (n.2199G>A)
c.2241+414G>A (n.2241+414G>A)
c.2205+414G>A (n.2205+414G>A)
c.2133+414G>A (n.2133+414G>A)
c.1680-5789G>A (n.1680-5789G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406634C>ACA2653804162KCNQ2c.*10G>T (n.*10G>T)
c.2197G>T (n.2197G>T)
c.2241+412G>T (n.2241+412G>T)
c.2205+412G>T (n.2205+412G>T)
c.2133+412G>T (n.2133+412G>T)
c.1680-5791G>T (n.1680-5791G>T)
 gnomAD v4
20g.63406634C>TCA2653804165KCNQ2c.*10G>A (n.*10G>A)
c.2197G>A (n.2197G>A)
c.2241+412G>A (n.2241+412G>A)
c.2205+412G>A (n.2205+412G>A)
c.2133+412G>A (n.2133+412G>A)
c.1680-5791G>A (n.1680-5791G>A)
 gnomAD v4
20g.63406635A>GCA2653804167KCNQ2c.*9T>C (n.*9T>C)
c.2196T>C (n.2196T>C)
c.2241+411T>C (n.2241+411T>C)
c.2205+411T>C (n.2205+411T>C)
c.2133+411T>C (n.2133+411T>C)
c.1680-5792T>C (n.1680-5792T>C)
 gnomAD v4
20g.63406635A>TCA2842871697KCNQ2c.*9T>A (n.*9T>A)
c.2196T>A (n.2196T>A)
c.2241+411T>A (n.2241+411T>A)
c.2205+411T>A (n.2205+411T>A)
c.2133+411T>A (n.2133+411T>A)
c.1680-5792T>A (n.1680-5792T>A)
20g.63406636G>ACA2653804170KCNQ2c.*8C>T (n.*8C>T)
c.2195C>T (n.2195C>T)
c.2241+410C>T (n.2241+410C>T)
c.2205+410C>T (n.2205+410C>T)
c.2133+410C>T (n.2133+410C>T)
c.1680-5793C>T (n.1680-5793C>T)
 gnomAD v4
20g.63406636G>CCA2653804173KCNQ2c.*8C>G (n.*8C>G)
c.2195C>G (n.2195C>G)
c.2241+410C>G (n.2241+410C>G)
c.2205+410C>G (n.2205+410C>G)
c.2133+410C>G (n.2133+410C>G)
c.1680-5793C>G (n.1680-5793C>G)
 gnomAD v4
20g.63406637C>ACA636614156KCNQ2c.*7G>T (n.*7G>T)
c.2194G>T (n.2194G>T)
c.2241+409G>T (n.2241+409G>T)
c.2205+409G>T (n.2205+409G>T)
c.2133+409G>T (n.2133+409G>T)
c.1680-5794G>T (n.1680-5794G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406637C=CA2374774161KCNQ2c.*7G= (n.*7G=)
c.2194G= (n.2194G=)
c.2241+409G= (n.2241+409G=)
c.2205+409G= (n.2205+409G=)
c.2133+409G= (n.2133+409G=)
c.1680-5794G= (n.1680-5794G=)
20g.63406637C>TCA9958048KCNQ2c.*7G>A (n.*7G>A)
c.2194G>A (n.2194G>A)
c.2241+409G>A (n.2241+409G>A)
c.2205+409G>A (n.2205+409G>A)
c.2133+409G>A (n.2133+409G>A)
c.1680-5794G>A (n.1680-5794G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406638G>ACA9958049KCNQ2c.*6C>T (n.*6C>T)
c.2193C>T (n.2193C>T)
c.2241+408C>T (n.2241+408C>T)
c.2205+408C>T (n.2205+408C>T)
c.2133+408C>T (n.2133+408C>T)
c.1680-5795C>T (n.1680-5795C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406638G=CA2374774162KCNQ2c.*6C= (n.*6C=)
c.2193C= (n.2193C=)
c.2241+408C= (n.2241+408C=)
c.2205+408C= (n.2205+408C=)
c.2133+408C= (n.2133+408C=)
c.1680-5795C= (n.1680-5795C=)
20g.63406638G>TCA2653804183KCNQ2c.*6C>A (n.*6C>A)
c.2193C>A (n.2193C>A)
c.2241+408C>A (n.2241+408C>A)
c.2205+408C>A (n.2205+408C>A)
c.2133+408C>A (n.2133+408C>A)
c.1680-5795C>A (n.1680-5795C>A)
 gnomAD v4
20g.63406639C>TCA2653804185KCNQ2c.*5G>A (n.*5G>A)
c.2192G>A (n.2192G>A)
c.2241+407G>A (n.2241+407G>A)
c.2205+407G>A (n.2205+407G>A)
c.2133+407G>A (n.2133+407G>A)
c.1680-5796G>A (n.1680-5796G>A)
 gnomAD v4
20g.63406640C>ACA2653804189KCNQ2c.*4G>T (n.*4G>T)
c.2191G>T (n.2191G>T)
c.2241+406G>T (n.2241+406G>T)
c.2205+406G>T (n.2205+406G>T)
c.2133+406G>T (n.2133+406G>T)
c.1680-5797G>T (n.1680-5797G>T)
 gnomAD v4
20g.63406640C=CA2374774163KCNQ2c.*4G= (n.*4G=)
c.2191G= (n.2191G=)
c.2241+406G= (n.2241+406G=)
c.2205+406G= (n.2205+406G=)
c.2133+406G= (n.2133+406G=)
c.1680-5797G= (n.1680-5797G=)
20g.63406640C>TCA234144KCNQ2c.*4G>A (n.*4G>A)
c.2191G>A (n.2191G>A)
c.2241+406G>A (n.2241+406G>A)
c.2205+406G>A (n.2205+406G>A)
c.2133+406G>A (n.2133+406G>A)
c.1680-5797G>A (n.1680-5797G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406641G>ACA9958050KCNQ2c.*3C>T (n.*3C>T)
c.2190C>T (n.2190C>T)
c.2241+405C>T (n.2241+405C>T)
c.2205+405C>T (n.2205+405C>T)
c.2133+405C>T (n.2133+405C>T)
c.1680-5798C>T (n.1680-5798C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406641G=CA2374774164KCNQ2c.*3C= (n.*3C=)
c.2190C= (n.2190C=)
c.2241+405C= (n.2241+405C=)
c.2205+405C= (n.2205+405C=)
c.2133+405C= (n.2133+405C=)
c.1680-5798C= (n.1680-5798C=)
20g.63406641G>TCA2653804203KCNQ2c.*3C>A (n.*3C>A)
c.2190C>A (n.2190C>A)
c.2241+405C>A (n.2241+405C>A)
c.2205+405C>A (n.2205+405C>A)
c.2133+405C>A (n.2133+405C>A)
c.1680-5798C>A (n.1680-5798C>A)
 gnomAD v4
20g.63406642_63406644delinsCCTCA2374774165KCNQ2c.2673_*2delinsAGG (n.[c.2673_*2delinsAGG;Ter891=])
c.2619_*2delinsAGG (n.[c.2619_*2delinsAGG;Ter873=])
c.2016_*2delinsAGG (n.[c.2016_*2delinsAGG;Ter672=])
c.2526_*2delinsAGG (n.[c.2526_*2delinsAGG;Ter842=])
c.2187_2189delinsAGG (n.[c.2187_2189delinsAGG;Ter729=])
c.2535_*2delinsAGG (n.[c.2535_*2delinsAGG;Ter845=])
c.2241+402_2241+404delinsAGG (n.2241+402_2241+404delinsAGG)
c.2205+402_2205+404delinsAGG (n.2205+402_2205+404delinsAGG)
c.2565_*2delinsAGG (n.[c.2565_*2delinsAGG;Ter855=])
c.2133+402_2133+404delinsAGG (n.2133+402_2133+404delinsAGG)
c.1680-5801_1680-5799delinsAGG (n.1680-5801_1680-5799delinsAGG)
c.2661_*2delinsAGG (n.[c.2661_*2delinsAGG;Ter887=])
c.2727_*2delinsAGG (n.[c.2727_*2delinsAGG;Ter909=])
c.2724_*2delinsAGG (n.[c.2724_*2delinsAGG;Ter908=])
c.2697_*2delinsAGG (n.[c.2697_*2delinsAGG;Ter899=])
c.2643_*2delinsAGG (n.[c.2643_*2delinsAGG;Ter881=])
c.2616_*2delinsAGG (n.[c.2616_*2delinsAGG;Ter872=])
c.2601_*2delinsAGG (n.[c.2601_*2delinsAGG;Ter867=])
c.2208_*2delinsAGG (n.[c.2208_*2delinsAGG;Ter736=])
c.2670_*2delinsAGG (n.[c.2670_*2delinsAGG;Ter890=])
c.2607_*2delinsAGG (n.[c.2607_*2delinsAGG;Ter869=])
c.2604_*2delinsAGG (n.[c.2604_*2delinsAGG;Ter868=])
c.2562_*2delinsAGG (n.[c.2562_*2delinsAGG;Ter854=])
c.1635_*2delinsAGG (n.[c.1635_*2delinsAGG;Ter545=])
20g.63406643C>ACA2653804209KCNQ2c.*1G>T (n.*1G>T)
c.2188G>T (n.2188G>T)
c.2241+403G>T (n.2241+403G>T)
c.2205+403G>T (n.2205+403G>T)
c.2133+403G>T (n.2133+403G>T)
c.1680-5800G>T (n.1680-5800G>T)
 gnomAD v4
20g.63406643C>TCA2653804211KCNQ2c.*1G>A (n.*1G>A)
c.2188G>A (n.2188G>A)
c.2241+403G>A (n.2241+403G>A)
c.2205+403G>A (n.2205+403G>A)
c.2133+403G>A (n.2133+403G>A)
c.1680-5800G>A (n.1680-5800G>A)
 gnomAD v4
20g.63406644_63406645delCA2374774166KCNQ2c.2673_*1del (n.[c.2673_*1del;Ter891TrpextTer?])
c.2619_*1del (n.[c.2619_*1del;Ter873TrpextTer?])
c.2016_*1del (n.[c.2016_*1del;Ter672TrpextTer?])
c.2526_*1del (n.[c.2526_*1del;Ter842TrpextTer?])
c.2187_2188del (n.[c.2187_2188del;Ter729TrpextTer?])
c.2535_*1del (n.[c.2535_*1del;Ter845TrpextTer?])
c.2241+402_2241+403del (n.2241+402_2241+403del)
c.2205+402_2205+403del (n.2205+402_2205+403del)
c.2565_*1del (n.[c.2565_*1del;Ter855TrpextTer?])
c.2133+402_2133+403del (n.2133+402_2133+403del)
c.1680-5801_1680-5800del (n.1680-5801_1680-5800del)
c.2661_*1del (n.[c.2661_*1del;Ter887TrpextTer?])
c.2727_*1del (n.[c.2727_*1del;Ter909TrpextTer?])
c.2724_*1del (n.[c.2724_*1del;Ter908TrpextTer?])
c.2697_*1del (n.[c.2697_*1del;Ter899TrpextTer?])
c.2643_*1del (n.[c.2643_*1del;Ter881TrpextTer?])
c.2616_*1del (n.[c.2616_*1del;Ter872TrpextTer?])
c.2601_*1del (n.[c.2601_*1del;Ter867TrpextTer?])
c.2208_*1del (n.[c.2208_*1del;Ter736TrpextTer?])
c.2670_*1del (n.[c.2670_*1del;Ter890TrpextTer?])
c.2607_*1del (n.[c.2607_*1del;Ter869TrpextTer?])
c.2604_*1del (n.[c.2604_*1del;Ter868TrpextTer?])
c.2562_*1del (n.[c.2562_*1del;Ter854TrpextTer?])
c.1635_*1del (n.[c.1635_*1del;Ter545TrpextTer?])
 dbSNP
20g.63406644T>ACA409636267KCNQ2c.2673A>T (p.Ter891Cys)
c.2619A>T (p.Ter873Cys)
c.2016A>T (p.Ter672Cys)
c.2526A>T (p.Ter842Cys)
c.2187A>T (p.Ter729Cys)
c.2535A>T (p.Ter845Cys)
c.2241+402A>T (n.2241+402A>T)
c.2205+402A>T (n.2205+402A>T)
c.2565A>T (p.Ter855Cys)
c.2133+402A>T (n.2133+402A>T)
c.1680-5801A>T (n.1680-5801A>T)
c.2661A>T (p.Ter887Cys)
c.2727A>T (p.Ter909Cys)
c.2724A>T (p.Ter908Cys)
c.2697A>T (p.Ter899Cys)
c.2643A>T (p.Ter881Cys)
c.2616A>T (p.Ter872Cys)
c.2601A>T (p.Ter867Cys)
c.2208A>T (p.Ter736Cys)
c.2670A>T (p.Ter890Cys)
c.2607A>T (p.Ter869Cys)
c.2604A>T (p.Ter868Cys)
c.2562A>T (p.Ter854Cys)
c.1635A>T (p.Ter545Cys)
20g.63406644T>CCA409636265KCNQ2c.2673A>G (p.Ter891Trp)
c.2619A>G (p.Ter873Trp)
c.2016A>G (p.Ter672Trp)
c.2526A>G (p.Ter842Trp)
c.2187A>G (p.Ter729Trp)
c.2535A>G (p.Ter845Trp)
c.2241+402A>G (n.2241+402A>G)
c.2205+402A>G (n.2205+402A>G)
c.2565A>G (p.Ter855Trp)
c.2133+402A>G (n.2133+402A>G)
c.1680-5801A>G (n.1680-5801A>G)
c.2661A>G (p.Ter887Trp)
c.2727A>G (p.Ter909Trp)
c.2724A>G (p.Ter908Trp)
c.2697A>G (p.Ter899Trp)
c.2643A>G (p.Ter881Trp)
c.2616A>G (p.Ter872Trp)
c.2601A>G (p.Ter867Trp)
c.2208A>G (p.Ter736Trp)
c.2670A>G (p.Ter890Trp)
c.2607A>G (p.Ter869Trp)
c.2604A>G (p.Ter868Trp)
c.2562A>G (p.Ter854Trp)
c.1635A>G (p.Ter545Trp)
20g.63406644T>GCA409636260KCNQ2c.2673A>C (p.Ter891Cys)
c.2619A>C (p.Ter873Cys)
c.2016A>C (p.Ter672Cys)
c.2526A>C (p.Ter842Cys)
c.2187A>C (p.Ter729Cys)
c.2535A>C (p.Ter845Cys)
c.2241+402A>C (n.2241+402A>C)
c.2205+402A>C (n.2205+402A>C)
c.2565A>C (p.Ter855Cys)
c.2133+402A>C (n.2133+402A>C)
c.1680-5801A>C (n.1680-5801A>C)
c.2661A>C (p.Ter887Cys)
c.2727A>C (p.Ter909Cys)
c.2724A>C (p.Ter908Cys)
c.2697A>C (p.Ter899Cys)
c.2643A>C (p.Ter881Cys)
c.2616A>C (p.Ter872Cys)
c.2601A>C (p.Ter867Cys)
c.2208A>C (p.Ter736Cys)
c.2670A>C (p.Ter890Cys)
c.2607A>C (p.Ter869Cys)
c.2604A>C (p.Ter868Cys)
c.2562A>C (p.Ter854Cys)
c.1635A>C (p.Ter545Cys)
20g.63406645C>ACA409636271KCNQ2c.2672G>T (p.Ter891Leu)
c.2618G>T (p.Ter873Leu)
c.2015G>T (p.Ter672Leu)
c.2525G>T (p.Ter842Leu)
c.2186G>T (p.Ter729Leu)
c.2534G>T (p.Ter845Leu)
c.2241+401G>T (n.2241+401G>T)
c.2205+401G>T (n.2205+401G>T)
c.2564G>T (p.Ter855Leu)
c.2133+401G>T (n.2133+401G>T)
c.1680-5802G>T (n.1680-5802G>T)
c.2660G>T (p.Ter887Leu)
c.2726G>T (p.Ter909Leu)
c.2723G>T (p.Ter908Leu)
c.2696G>T (p.Ter899Leu)
c.2642G>T (p.Ter881Leu)
c.2615G>T (p.Ter872Leu)
c.2600G>T (p.Ter867Leu)
c.2207G>T (p.Ter736Leu)
c.2669G>T (p.Ter890Leu)
c.2606G>T (p.Ter869Leu)
c.2603G>T (p.Ter868Leu)
c.2561G>T (p.Ter854Leu)
c.1634G>T (p.Ter545Leu)
20g.63406645C=CA2374774167KCNQ2c.2672G= (p.Ter891=)
c.2618G= (p.Ter873=)
c.2015G= (p.Ter672=)
c.2525G= (p.Ter842=)
c.2186G= (p.Ter729=)
c.2534G= (p.Ter845=)
c.2241+401G= (n.2241+401G=)
c.2205+401G= (n.2205+401G=)
c.2564G= (p.Ter855=)
c.2133+401G= (n.2133+401G=)
c.1680-5802G= (n.1680-5802G=)
c.2660G= (p.Ter887=)
c.2726G= (p.Ter909=)
c.2723G= (p.Ter908=)
c.2696G= (p.Ter899=)
c.2642G= (p.Ter881=)
c.2615G= (p.Ter872=)
c.2600G= (p.Ter867=)
c.2207G= (p.Ter736=)
c.2669G= (p.Ter890=)
c.2606G= (p.Ter869=)
c.2603G= (p.Ter868=)
c.2561G= (p.Ter854=)
c.1634G= (p.Ter545=)
20g.63406645C>GCA409636274KCNQ2c.2672G>C (p.Ter891Ser)
c.2618G>C (p.Ter873Ser)
c.2015G>C (p.Ter672Ser)
c.2525G>C (p.Ter842Ser)
c.2186G>C (p.Ter729Ser)
c.2534G>C (p.Ter845Ser)
c.2241+401G>C (n.2241+401G>C)
c.2205+401G>C (n.2205+401G>C)
c.2564G>C (p.Ter855Ser)
c.2133+401G>C (n.2133+401G>C)
c.1680-5802G>C (n.1680-5802G>C)
c.2660G>C (p.Ter887Ser)
c.2726G>C (p.Ter909Ser)
c.2723G>C (p.Ter908Ser)
c.2696G>C (p.Ter899Ser)
c.2642G>C (p.Ter881Ser)
c.2615G>C (p.Ter872Ser)
c.2600G>C (p.Ter867Ser)
c.2207G>C (p.Ter736Ser)
c.2669G>C (p.Ter890Ser)
c.2606G>C (p.Ter869Ser)
c.2603G>C (p.Ter868Ser)
c.2561G>C (p.Ter854Ser)
c.1634G>C (p.Ter545Ser)
20g.63406645C>TCA511339163KCNQ2c.2672G>A (p.Ter891=)
c.2618G>A (p.Ter873=)
c.2015G>A (p.Ter672=)
c.2525G>A (p.Ter842=)
c.2186G>A (p.Ter729=)
c.2534G>A (p.Ter845=)
c.2241+401G>A (n.2241+401G>A)
c.2205+401G>A (n.2205+401G>A)
c.2564G>A (p.Ter855=)
c.2133+401G>A (n.2133+401G>A)
c.1680-5802G>A (n.1680-5802G>A)
c.2660G>A (p.Ter887=)
c.2726G>A (p.Ter909=)
c.2723G>A (p.Ter908=)
c.2696G>A (p.Ter899=)
c.2642G>A (p.Ter881=)
c.2615G>A (p.Ter872=)
c.2600G>A (p.Ter867=)
c.2207G>A (p.Ter736=)
c.2669G>A (p.Ter890=)
c.2606G>A (p.Ter869=)
c.2603G>A (p.Ter868=)
c.2561G>A (p.Ter854=)
c.1634G>A (p.Ter545=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406646A>CCA409636276KCNQ2c.2671T>G (p.Ter891Gly)
c.2617T>G (p.Ter873Gly)
c.2014T>G (p.Ter672Gly)
c.2524T>G (p.Ter842Gly)
c.2185T>G (p.Ter729Gly)
c.2533T>G (p.Ter845Gly)
c.2241+400T>G (n.2241+400T>G)
c.2205+400T>G (n.2205+400T>G)
c.2563T>G (p.Ter855Gly)
c.2133+400T>G (n.2133+400T>G)
c.1680-5803T>G (n.1680-5803T>G)
c.2659T>G (p.Ter887Gly)
c.2725T>G (p.Ter909Gly)
c.2722T>G (p.Ter908Gly)
c.2695T>G (p.Ter899Gly)
c.2641T>G (p.Ter881Gly)
c.2614T>G (p.Ter872Gly)
c.2599T>G (p.Ter867Gly)
c.2206T>G (p.Ter736Gly)
c.2668T>G (p.Ter890Gly)
c.2605T>G (p.Ter869Gly)
c.2602T>G (p.Ter868Gly)
c.2560T>G (p.Ter854Gly)
c.1633T>G (p.Ter545Gly)
20g.63406646A>GCA409636281KCNQ2c.2671T>C (p.Ter891Arg)
c.2617T>C (p.Ter873Arg)
c.2014T>C (p.Ter672Arg)
c.2524T>C (p.Ter842Arg)
c.2185T>C (p.Ter729Arg)
c.2533T>C (p.Ter845Arg)
c.2241+400T>C (n.2241+400T>C)
c.2205+400T>C (n.2205+400T>C)
c.2563T>C (p.Ter855Arg)
c.2133+400T>C (n.2133+400T>C)
c.1680-5803T>C (n.1680-5803T>C)
c.2659T>C (p.Ter887Arg)
c.2725T>C (p.Ter909Arg)
c.2722T>C (p.Ter908Arg)
c.2695T>C (p.Ter899Arg)
c.2641T>C (p.Ter881Arg)
c.2614T>C (p.Ter872Arg)
c.2599T>C (p.Ter867Arg)
c.2206T>C (p.Ter736Arg)
c.2668T>C (p.Ter890Arg)
c.2605T>C (p.Ter869Arg)
c.2602T>C (p.Ter868Arg)
c.2560T>C (p.Ter854Arg)
c.1633T>C (p.Ter545Arg)
20g.63406646A>TCA409636278KCNQ2c.2671T>A (p.Ter891Arg)
c.2617T>A (p.Ter873Arg)
c.2014T>A (p.Ter672Arg)
c.2524T>A (p.Ter842Arg)
c.2185T>A (p.Ter729Arg)
c.2533T>A (p.Ter845Arg)
c.2241+400T>A (n.2241+400T>A)
c.2205+400T>A (n.2205+400T>A)
c.2563T>A (p.Ter855Arg)
c.2133+400T>A (n.2133+400T>A)
c.1680-5803T>A (n.1680-5803T>A)
c.2659T>A (p.Ter887Arg)
c.2725T>A (p.Ter909Arg)
c.2722T>A (p.Ter908Arg)
c.2695T>A (p.Ter899Arg)
c.2641T>A (p.Ter881Arg)
c.2614T>A (p.Ter872Arg)
c.2599T>A (p.Ter867Arg)
c.2206T>A (p.Ter736Arg)
c.2668T>A (p.Ter890Arg)
c.2605T>A (p.Ter869Arg)
c.2602T>A (p.Ter868Arg)
c.2560T>A (p.Ter854Arg)
c.1633T>A (p.Ter545Arg)
20g.63406647C>ACA409636284KCNQ2c.2670G>T (p.Lys890Asn)
c.2616G>T (p.Lys872Asn)
c.2013G>T (p.Lys671Asn)
c.2523G>T (p.Lys841Asn)
c.2184G>T (p.Lys728Asn)
c.2532G>T (p.Lys844Asn)
c.2241+399G>T (n.2241+399G>T)
c.2205+399G>T (n.2205+399G>T)
c.2562G>T (p.Lys854Asn)
c.2133+399G>T (n.2133+399G>T)
c.1680-5804G>T (n.1680-5804G>T)
c.2658G>T (p.Lys886Asn)
c.2724G>T (p.Lys908Asn)
c.2721G>T (p.Lys907Asn)
c.2694G>T (p.Lys898Asn)
c.2640G>T (p.Lys880Asn)
c.2613G>T (p.Lys871Asn)
c.2598G>T (p.Lys866Asn)
c.2205G>T (p.Lys735Asn)
c.2667G>T (p.Lys889Asn)
c.2604G>T (p.Lys868Asn)
c.2601G>T (p.Lys867Asn)
c.2559G>T (p.Lys853Asn)
c.1632G>T (p.Lys544Asn)
20g.63406647C=CA2374774168KCNQ2c.2670G= (p.Lys890=)
c.2616G= (p.Lys872=)
c.2013G= (p.Lys671=)
c.2523G= (p.Lys841=)
c.2184G= (p.Lys728=)
c.2532G= (p.Lys844=)
c.2241+399G= (n.2241+399G=)
c.2205+399G= (n.2205+399G=)
c.2562G= (p.Lys854=)
c.2133+399G= (n.2133+399G=)
c.1680-5804G= (n.1680-5804G=)
c.2658G= (p.Lys886=)
c.2724G= (p.Lys908=)
c.2721G= (p.Lys907=)
c.2694G= (p.Lys898=)
c.2640G= (p.Lys880=)
c.2613G= (p.Lys871=)
c.2598G= (p.Lys866=)
c.2205G= (p.Lys735=)
c.2667G= (p.Lys889=)
c.2604G= (p.Lys868=)
c.2601G= (p.Lys867=)
c.2559G= (p.Lys853=)
c.1632G= (p.Lys544=)
20g.63406647C>GCA409636286KCNQ2c.2670G>C (p.Lys890Asn)
c.2616G>C (p.Lys872Asn)
c.2013G>C (p.Lys671Asn)
c.2523G>C (p.Lys841Asn)
c.2184G>C (p.Lys728Asn)
c.2532G>C (p.Lys844Asn)
c.2241+399G>C (n.2241+399G>C)
c.2205+399G>C (n.2205+399G>C)
c.2562G>C (p.Lys854Asn)
c.2133+399G>C (n.2133+399G>C)
c.1680-5804G>C (n.1680-5804G>C)
c.2658G>C (p.Lys886Asn)
c.2724G>C (p.Lys908Asn)
c.2721G>C (p.Lys907Asn)
c.2694G>C (p.Lys898Asn)
c.2640G>C (p.Lys880Asn)
c.2613G>C (p.Lys871Asn)
c.2598G>C (p.Lys866Asn)
c.2205G>C (p.Lys735Asn)
c.2667G>C (p.Lys889Asn)
c.2604G>C (p.Lys868Asn)
c.2601G>C (p.Lys867Asn)
c.2559G>C (p.Lys853Asn)
c.1632G>C (p.Lys544Asn)
 ClinVar dbSNP gnomAD v2
20g.63406647C>TCA511339164KCNQ2c.2670G>A (p.Lys890=)
c.2616G>A (p.Lys872=)
c.2013G>A (p.Lys671=)
c.2523G>A (p.Lys841=)
c.2184G>A (p.Lys728=)
c.2532G>A (p.Lys844=)
c.2241+399G>A (n.2241+399G>A)
c.2205+399G>A (n.2205+399G>A)
c.2562G>A (p.Lys854=)
c.2133+399G>A (n.2133+399G>A)
c.1680-5804G>A (n.1680-5804G>A)
c.2658G>A (p.Lys886=)
c.2724G>A (p.Lys908=)
c.2721G>A (p.Lys907=)
c.2694G>A (p.Lys898=)
c.2640G>A (p.Lys880=)
c.2613G>A (p.Lys871=)
c.2598G>A (p.Lys866=)
c.2205G>A (p.Lys735=)
c.2667G>A (p.Lys889=)
c.2604G>A (p.Lys868=)
c.2601G>A (p.Lys867=)
c.2559G>A (p.Lys853=)
c.1632G>A (p.Lys544=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406648T>ACA409636289KCNQ2c.2669A>T (p.Lys890Met)
c.2615A>T (p.Lys872Met)
c.2012A>T (p.Lys671Met)
c.2522A>T (p.Lys841Met)
c.2183A>T (p.Lys728Met)
c.2531A>T (p.Lys844Met)
c.2241+398A>T (n.2241+398A>T)
c.2205+398A>T (n.2205+398A>T)
c.2561A>T (p.Lys854Met)
c.2133+398A>T (n.2133+398A>T)
c.1680-5805A>T (n.1680-5805A>T)
c.2657A>T (p.Lys886Met)
c.2723A>T (p.Lys908Met)
c.2720A>T (p.Lys907Met)
c.2693A>T (p.Lys898Met)
c.2639A>T (p.Lys880Met)
c.2612A>T (p.Lys871Met)
c.2597A>T (p.Lys866Met)
c.2204A>T (p.Lys735Met)
c.2666A>T (p.Lys889Met)
c.2603A>T (p.Lys868Met)
c.2600A>T (p.Lys867Met)
c.2558A>T (p.Lys853Met)
c.1631A>T (p.Lys544Met)
20g.63406648T>CCA409636291KCNQ2c.2669A>G (p.Lys890Arg)
c.2615A>G (p.Lys872Arg)
c.2012A>G (p.Lys671Arg)
c.2522A>G (p.Lys841Arg)
c.2183A>G (p.Lys728Arg)
c.2531A>G (p.Lys844Arg)
c.2241+398A>G (n.2241+398A>G)
c.2205+398A>G (n.2205+398A>G)
c.2561A>G (p.Lys854Arg)
c.2133+398A>G (n.2133+398A>G)
c.1680-5805A>G (n.1680-5805A>G)
c.2657A>G (p.Lys886Arg)
c.2723A>G (p.Lys908Arg)
c.2720A>G (p.Lys907Arg)
c.2693A>G (p.Lys898Arg)
c.2639A>G (p.Lys880Arg)
c.2612A>G (p.Lys871Arg)
c.2597A>G (p.Lys866Arg)
c.2204A>G (p.Lys735Arg)
c.2666A>G (p.Lys889Arg)
c.2603A>G (p.Lys868Arg)
c.2600A>G (p.Lys867Arg)
c.2558A>G (p.Lys853Arg)
c.1631A>G (p.Lys544Arg)
20g.63406648T>GCA409636293KCNQ2c.2669A>C (p.Lys890Thr)
c.2615A>C (p.Lys872Thr)
c.2012A>C (p.Lys671Thr)
c.2522A>C (p.Lys841Thr)
c.2183A>C (p.Lys728Thr)
c.2531A>C (p.Lys844Thr)
c.2241+398A>C (n.2241+398A>C)
c.2205+398A>C (n.2205+398A>C)
c.2561A>C (p.Lys854Thr)
c.2133+398A>C (n.2133+398A>C)
c.1680-5805A>C (n.1680-5805A>C)
c.2657A>C (p.Lys886Thr)
c.2723A>C (p.Lys908Thr)
c.2720A>C (p.Lys907Thr)
c.2693A>C (p.Lys898Thr)
c.2639A>C (p.Lys880Thr)
c.2612A>C (p.Lys871Thr)
c.2597A>C (p.Lys866Thr)
c.2204A>C (p.Lys735Thr)
c.2666A>C (p.Lys889Thr)
c.2603A>C (p.Lys868Thr)
c.2600A>C (p.Lys867Thr)
c.2558A>C (p.Lys853Thr)
c.1631A>C (p.Lys544Thr)
 gnomAD v4
20g.63406648_63406653delinsTTCCTGCA2374774169KCNQ2c.2664_2669delinsCAGGAA (p.Pro888=)
c.2610_2615delinsCAGGAA (p.Pro870=)
c.2007_2012delinsCAGGAA (p.Pro669=)
c.2517_2522delinsCAGGAA (p.Pro839=)
c.2178_2183delinsCAGGAA (p.Pro726=)
c.2526_2531delinsCAGGAA (p.Pro842=)
c.2241+393_2241+398delinsCAGGAA (n.2241+393_2241+398delinsCAGGAA)
c.2205+393_2205+398delinsCAGGAA (n.2205+393_2205+398delinsCAGGAA)
c.2556_2561delinsCAGGAA (p.Pro852=)
c.2133+393_2133+398delinsCAGGAA (n.2133+393_2133+398delinsCAGGAA)
c.1680-5810_1680-5805delinsCAGGAA (n.1680-5810_1680-5805delinsCAGGAA)
c.2652_2657delinsCAGGAA (p.Pro884=)
c.2718_2723delinsCAGGAA (p.Pro906=)
c.2715_2720delinsCAGGAA (p.Pro905=)
c.2688_2693delinsCAGGAA (p.Pro896=)
c.2634_2639delinsCAGGAA (p.Pro878=)
c.2607_2612delinsCAGGAA (p.Pro869=)
c.2592_2597delinsCAGGAA (p.Pro864=)
c.2199_2204delinsCAGGAA (p.Pro733=)
c.2661_2666delinsCAGGAA (p.Pro887=)
c.2598_2603delinsCAGGAA (p.Pro866=)
c.2595_2600delinsCAGGAA (p.Pro865=)
c.2553_2558delinsCAGGAA (p.Pro851=)
c.1626_1631delinsCAGGAA (p.Pro542=)
20g.63406649T>ACA409636299KCNQ2c.2668A>T (p.Lys890Ter)
c.2614A>T (p.Lys872Ter)
c.2011A>T (p.Lys671Ter)
c.2521A>T (p.Lys841Ter)
c.2182A>T (p.Lys728Ter)
c.2530A>T (p.Lys844Ter)
c.2241+397A>T (n.2241+397A>T)
c.2205+397A>T (n.2205+397A>T)
c.2560A>T (p.Lys854Ter)
c.2133+397A>T (n.2133+397A>T)
c.1680-5806A>T (n.1680-5806A>T)
c.2656A>T (p.Lys886Ter)
c.2722A>T (p.Lys908Ter)
c.2719A>T (p.Lys907Ter)
c.2692A>T (p.Lys898Ter)
c.2638A>T (p.Lys880Ter)
c.2611A>T (p.Lys871Ter)
c.2596A>T (p.Lys866Ter)
c.2203A>T (p.Lys735Ter)
c.2665A>T (p.Lys889Ter)
c.2602A>T (p.Lys868Ter)
c.2599A>T (p.Lys867Ter)
c.2557A>T (p.Lys853Ter)
c.1630A>T (p.Lys544Ter)
20g.63406649T>CCA409636301KCNQ2c.2668A>G (p.Lys890Glu)
c.2614A>G (p.Lys872Glu)
c.2011A>G (p.Lys671Glu)
c.2521A>G (p.Lys841Glu)
c.2182A>G (p.Lys728Glu)
c.2530A>G (p.Lys844Glu)
c.2241+397A>G (n.2241+397A>G)
c.2205+397A>G (n.2205+397A>G)
c.2560A>G (p.Lys854Glu)
c.2133+397A>G (n.2133+397A>G)
c.1680-5806A>G (n.1680-5806A>G)
c.2656A>G (p.Lys886Glu)
c.2722A>G (p.Lys908Glu)
c.2719A>G (p.Lys907Glu)
c.2692A>G (p.Lys898Glu)
c.2638A>G (p.Lys880Glu)
c.2611A>G (p.Lys871Glu)
c.2596A>G (p.Lys866Glu)
c.2203A>G (p.Lys735Glu)
c.2665A>G (p.Lys889Glu)
c.2602A>G (p.Lys868Glu)
c.2599A>G (p.Lys867Glu)
c.2557A>G (p.Lys853Glu)
c.1630A>G (p.Lys544Glu)
20g.63406649T>GCA409636305KCNQ2c.2668A>C (p.Lys890Gln)
c.2614A>C (p.Lys872Gln)
c.2011A>C (p.Lys671Gln)
c.2521A>C (p.Lys841Gln)
c.2182A>C (p.Lys728Gln)
c.2530A>C (p.Lys844Gln)
c.2241+397A>C (n.2241+397A>C)
c.2205+397A>C (n.2205+397A>C)
c.2560A>C (p.Lys854Gln)
c.2133+397A>C (n.2133+397A>C)
c.1680-5806A>C (n.1680-5806A>C)
c.2656A>C (p.Lys886Gln)
c.2722A>C (p.Lys908Gln)
c.2719A>C (p.Lys907Gln)
c.2692A>C (p.Lys898Gln)
c.2638A>C (p.Lys880Gln)
c.2611A>C (p.Lys871Gln)
c.2596A>C (p.Lys866Gln)
c.2203A>C (p.Lys735Gln)
c.2665A>C (p.Lys889Gln)
c.2602A>C (p.Lys868Gln)
c.2599A>C (p.Lys867Gln)
c.2557A>C (p.Lys853Gln)
c.1630A>C (p.Lys544Gln)
20g.63406649_63406653delCA2374774170KCNQ2c.2664_2668del (p.Arg889ValfsTer?)
c.2610_2614del (p.Arg871ValfsTer?)
c.2007_2011del (p.Arg670ValfsTer?)
c.2517_2521del (p.Arg840ValfsTer?)
c.2178_2182del (p.Arg727ValfsTer?)
c.2526_2530del (p.Arg843ValfsTer?)
c.2241+393_2241+397del (n.2241+393_2241+397del)
c.2205+393_2205+397del (n.2205+393_2205+397del)
c.2556_2560del (p.Arg853ValfsTer?)
c.2133+393_2133+397del (n.2133+393_2133+397del)
c.1680-5810_1680-5806del (n.1680-5810_1680-5806del)
c.2652_2656del (p.Arg885ValfsTer?)
c.2718_2722del (p.Arg907ValfsTer?)
c.2715_2719del (p.Arg906ValfsTer?)
c.2688_2692del (p.Arg897ValfsTer?)
c.2634_2638del (p.Arg879ValfsTer?)
c.2607_2611del (p.Arg870ValfsTer?)
c.2592_2596del (p.Arg865ValfsTer?)
c.2199_2203del (p.Arg734ValfsTer?)
c.2661_2665del (p.Arg888ValfsTer?)
c.2598_2602del (p.Arg867ValfsTer?)
c.2595_2599del (p.Arg866ValfsTer?)
c.2553_2557del (p.Arg852ValfsTer?)
c.1626_1630del (p.Arg543ValfsTer?)
 dbSNP
20g.63406650C>ACA288935KCNQ2c.2667G>T (p.Arg889Ser)
c.2613G>T (p.Arg871Ser)
c.2010G>T (p.Arg670Ser)
c.2520G>T (p.Arg840Ser)
c.2181G>T (p.Arg727Ser)
c.2529G>T (p.Arg843Ser)
c.2241+396G>T (n.2241+396G>T)
c.2205+396G>T (n.2205+396G>T)
c.2559G>T (p.Arg853Ser)
c.2133+396G>T (n.2133+396G>T)
c.1680-5807G>T (n.1680-5807G>T)
c.2655G>T (p.Arg885Ser)
c.2721G>T (p.Arg907Ser)
c.2718G>T (p.Arg906Ser)
c.2691G>T (p.Arg897Ser)
c.2637G>T (p.Arg879Ser)
c.2610G>T (p.Arg870Ser)
c.2595G>T (p.Arg865Ser)
c.2202G>T (p.Arg734Ser)
c.2664G>T (p.Arg888Ser)
c.2601G>T (p.Arg867Ser)
c.2598G>T (p.Arg866Ser)
c.2556G>T (p.Arg852Ser)
c.1629G>T (p.Arg543Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406650C=CA2374774171KCNQ2c.2667G= (p.Arg889=)
c.2613G= (p.Arg871=)
c.2010G= (p.Arg670=)
c.2520G= (p.Arg840=)
c.2181G= (p.Arg727=)
c.2529G= (p.Arg843=)
c.2241+396G= (n.2241+396G=)
c.2205+396G= (n.2205+396G=)
c.2559G= (p.Arg853=)
c.2133+396G= (n.2133+396G=)
c.1680-5807G= (n.1680-5807G=)
c.2655G= (p.Arg885=)
c.2721G= (p.Arg907=)
c.2718G= (p.Arg906=)
c.2691G= (p.Arg897=)
c.2637G= (p.Arg879=)
c.2610G= (p.Arg870=)
c.2595G= (p.Arg865=)
c.2202G= (p.Arg734=)
c.2664G= (p.Arg888=)
c.2601G= (p.Arg867=)
c.2598G= (p.Arg866=)
c.2556G= (p.Arg852=)
c.1629G= (p.Arg543=)
20g.63406650C>GCA409636308KCNQ2c.2667G>C (p.Arg889Ser)
c.2613G>C (p.Arg871Ser)
c.2010G>C (p.Arg670Ser)
c.2520G>C (p.Arg840Ser)
c.2181G>C (p.Arg727Ser)
c.2529G>C (p.Arg843Ser)
c.2241+396G>C (n.2241+396G>C)
c.2205+396G>C (n.2205+396G>C)
c.2559G>C (p.Arg853Ser)
c.2133+396G>C (n.2133+396G>C)
c.1680-5807G>C (n.1680-5807G>C)
c.2655G>C (p.Arg885Ser)
c.2721G>C (p.Arg907Ser)
c.2718G>C (p.Arg906Ser)
c.2691G>C (p.Arg897Ser)
c.2637G>C (p.Arg879Ser)
c.2610G>C (p.Arg870Ser)
c.2595G>C (p.Arg865Ser)
c.2202G>C (p.Arg734Ser)
c.2664G>C (p.Arg888Ser)
c.2601G>C (p.Arg867Ser)
c.2598G>C (p.Arg866Ser)
c.2556G>C (p.Arg852Ser)
c.1629G>C (p.Arg543Ser)
20g.63406650C>TCA511339165KCNQ2c.2667G>A (p.Arg889=)
c.2613G>A (p.Arg871=)
c.2010G>A (p.Arg670=)
c.2520G>A (p.Arg840=)
c.2181G>A (p.Arg727=)
c.2529G>A (p.Arg843=)
c.2241+396G>A (n.2241+396G>A)
c.2205+396G>A (n.2205+396G>A)
c.2559G>A (p.Arg853=)
c.2133+396G>A (n.2133+396G>A)
c.1680-5807G>A (n.1680-5807G>A)
c.2655G>A (p.Arg885=)
c.2721G>A (p.Arg907=)
c.2718G>A (p.Arg906=)
c.2691G>A (p.Arg897=)
c.2637G>A (p.Arg879=)
c.2610G>A (p.Arg870=)
c.2595G>A (p.Arg865=)
c.2202G>A (p.Arg734=)
c.2664G>A (p.Arg888=)
c.2601G>A (p.Arg867=)
c.2598G>A (p.Arg866=)
c.2556G>A (p.Arg852=)
c.1629G>A (p.Arg543=)
20g.63406651C>ACA409636312KCNQ2c.2666G>T (p.Arg889Met)
c.2612G>T (p.Arg871Met)
c.2009G>T (p.Arg670Met)
c.2519G>T (p.Arg840Met)
c.2180G>T (p.Arg727Met)
c.2528G>T (p.Arg843Met)
c.2241+395G>T (n.2241+395G>T)
c.2205+395G>T (n.2205+395G>T)
c.2558G>T (p.Arg853Met)
c.2133+395G>T (n.2133+395G>T)
c.1680-5808G>T (n.1680-5808G>T)
c.2654G>T (p.Arg885Met)
c.2720G>T (p.Arg907Met)
c.2717G>T (p.Arg906Met)
c.2690G>T (p.Arg897Met)
c.2636G>T (p.Arg879Met)
c.2609G>T (p.Arg870Met)
c.2594G>T (p.Arg865Met)
c.2201G>T (p.Arg734Met)
c.2663G>T (p.Arg888Met)
c.2600G>T (p.Arg867Met)
c.2597G>T (p.Arg866Met)
c.2555G>T (p.Arg852Met)
c.1628G>T (p.Arg543Met)
20g.63406651C=CA2374774172KCNQ2c.2666G= (p.Arg889=)
c.2612G= (p.Arg871=)
c.2009G= (p.Arg670=)
c.2519G= (p.Arg840=)
c.2180G= (p.Arg727=)
c.2528G= (p.Arg843=)
c.2241+395G= (n.2241+395G=)
c.2205+395G= (n.2205+395G=)
c.2558G= (p.Arg853=)
c.2133+395G= (n.2133+395G=)
c.1680-5808G= (n.1680-5808G=)
c.2654G= (p.Arg885=)
c.2720G= (p.Arg907=)
c.2717G= (p.Arg906=)
c.2690G= (p.Arg897=)
c.2636G= (p.Arg879=)
c.2609G= (p.Arg870=)
c.2594G= (p.Arg865=)
c.2201G= (p.Arg734=)
c.2663G= (p.Arg888=)
c.2600G= (p.Arg867=)
c.2597G= (p.Arg866=)
c.2555G= (p.Arg852=)
c.1628G= (p.Arg543=)
20g.63406651C>GCA409636314KCNQ2c.2666G>C (p.Arg889Thr)
c.2612G>C (p.Arg871Thr)
c.2009G>C (p.Arg670Thr)
c.2519G>C (p.Arg840Thr)
c.2180G>C (p.Arg727Thr)
c.2528G>C (p.Arg843Thr)
c.2241+395G>C (n.2241+395G>C)
c.2205+395G>C (n.2205+395G>C)
c.2558G>C (p.Arg853Thr)
c.2133+395G>C (n.2133+395G>C)
c.1680-5808G>C (n.1680-5808G>C)
c.2654G>C (p.Arg885Thr)
c.2720G>C (p.Arg907Thr)
c.2717G>C (p.Arg906Thr)
c.2690G>C (p.Arg897Thr)
c.2636G>C (p.Arg879Thr)
c.2609G>C (p.Arg870Thr)
c.2594G>C (p.Arg865Thr)
c.2201G>C (p.Arg734Thr)
c.2663G>C (p.Arg888Thr)
c.2600G>C (p.Arg867Thr)
c.2597G>C (p.Arg866Thr)
c.2555G>C (p.Arg852Thr)
c.1628G>C (p.Arg543Thr)
20g.63406651C>TCA409636316KCNQ2c.2666G>A (p.Arg889Lys)
c.2612G>A (p.Arg871Lys)
c.2009G>A (p.Arg670Lys)
c.2519G>A (p.Arg840Lys)
c.2180G>A (p.Arg727Lys)
c.2528G>A (p.Arg843Lys)
c.2241+395G>A (n.2241+395G>A)
c.2205+395G>A (n.2205+395G>A)
c.2558G>A (p.Arg853Lys)
c.2133+395G>A (n.2133+395G>A)
c.1680-5808G>A (n.1680-5808G>A)
c.2654G>A (p.Arg885Lys)
c.2720G>A (p.Arg907Lys)
c.2717G>A (p.Arg906Lys)
c.2690G>A (p.Arg897Lys)
c.2636G>A (p.Arg879Lys)
c.2609G>A (p.Arg870Lys)
c.2594G>A (p.Arg865Lys)
c.2201G>A (p.Arg734Lys)
c.2663G>A (p.Arg888Lys)
c.2600G>A (p.Arg867Lys)
c.2597G>A (p.Arg866Lys)
c.2555G>A (p.Arg852Lys)
c.1628G>A (p.Arg543Lys)
 ClinVar dbSNP
20g.63406652T>ACA409636318KCNQ2c.2665A>T (p.Arg889Trp)
c.2611A>T (p.Arg871Trp)
c.2008A>T (p.Arg670Trp)
c.2518A>T (p.Arg840Trp)
c.2179A>T (p.Arg727Trp)
c.2527A>T (p.Arg843Trp)
c.2241+394A>T (n.2241+394A>T)
c.2205+394A>T (n.2205+394A>T)
c.2557A>T (p.Arg853Trp)
c.2133+394A>T (n.2133+394A>T)
c.1680-5809A>T (n.1680-5809A>T)
c.2653A>T (p.Arg885Trp)
c.2719A>T (p.Arg907Trp)
c.2716A>T (p.Arg906Trp)
c.2689A>T (p.Arg897Trp)
c.2635A>T (p.Arg879Trp)
c.2608A>T (p.Arg870Trp)
c.2593A>T (p.Arg865Trp)
c.2200A>T (p.Arg734Trp)
c.2662A>T (p.Arg888Trp)
c.2599A>T (p.Arg867Trp)
c.2596A>T (p.Arg866Trp)
c.2554A>T (p.Arg852Trp)
c.1627A>T (p.Arg543Trp)
20g.63406652T>CCA317421425KCNQ2c.2665A>G (p.Arg889Gly)
c.2611A>G (p.Arg871Gly)
c.2008A>G (p.Arg670Gly)
c.2518A>G (p.Arg840Gly)
c.2179A>G (p.Arg727Gly)
c.2527A>G (p.Arg843Gly)
c.2241+394A>G (n.2241+394A>G)
c.2205+394A>G (n.2205+394A>G)
c.2557A>G (p.Arg853Gly)
c.2133+394A>G (n.2133+394A>G)
c.1680-5809A>G (n.1680-5809A>G)
c.2653A>G (p.Arg885Gly)
c.2719A>G (p.Arg907Gly)
c.2716A>G (p.Arg906Gly)
c.2689A>G (p.Arg897Gly)
c.2635A>G (p.Arg879Gly)
c.2608A>G (p.Arg870Gly)
c.2593A>G (p.Arg865Gly)
c.2200A>G (p.Arg734Gly)
c.2662A>G (p.Arg888Gly)
c.2599A>G (p.Arg867Gly)
c.2596A>G (p.Arg866Gly)
c.2554A>G (p.Arg852Gly)
c.1627A>G (p.Arg543Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406652T>GCA511339166KCNQ2c.2665A>C (p.Arg889=)
c.2611A>C (p.Arg871=)
c.2008A>C (p.Arg670=)
c.2518A>C (p.Arg840=)
c.2179A>C (p.Arg727=)
c.2527A>C (p.Arg843=)
c.2241+394A>C (n.2241+394A>C)
c.2205+394A>C (n.2205+394A>C)
c.2557A>C (p.Arg853=)
c.2133+394A>C (n.2133+394A>C)
c.1680-5809A>C (n.1680-5809A>C)
c.2653A>C (p.Arg885=)
c.2719A>C (p.Arg907=)
c.2716A>C (p.Arg906=)
c.2689A>C (p.Arg897=)
c.2635A>C (p.Arg879=)
c.2608A>C (p.Arg870=)
c.2593A>C (p.Arg865=)
c.2200A>C (p.Arg734=)
c.2662A>C (p.Arg888=)
c.2599A>C (p.Arg867=)
c.2596A>C (p.Arg866=)
c.2554A>C (p.Arg852=)
c.1627A>C (p.Arg543=)
20g.63406652T=CA2374774173KCNQ2c.2665A= (p.Arg889=)
c.2611A= (p.Arg871=)
c.2008A= (p.Arg670=)
c.2518A= (p.Arg840=)
c.2179A= (p.Arg727=)
c.2527A= (p.Arg843=)
c.2241+394A= (n.2241+394A=)
c.2205+394A= (n.2205+394A=)
c.2557A= (p.Arg853=)
c.2133+394A= (n.2133+394A=)
c.1680-5809A= (n.1680-5809A=)
c.2653A= (p.Arg885=)
c.2719A= (p.Arg907=)
c.2716A= (p.Arg906=)
c.2689A= (p.Arg897=)
c.2635A= (p.Arg879=)
c.2608A= (p.Arg870=)
c.2593A= (p.Arg865=)
c.2200A= (p.Arg734=)
c.2662A= (p.Arg888=)
c.2599A= (p.Arg867=)
c.2596A= (p.Arg866=)
c.2554A= (p.Arg852=)
c.1627A= (p.Arg543=)
20g.63406653G>ACA511339169KCNQ2c.2664C>T (p.Pro888=)
c.2610C>T (p.Pro870=)
c.2007C>T (p.Pro669=)
c.2517C>T (p.Pro839=)
c.2178C>T (p.Pro726=)
c.2526C>T (p.Pro842=)
c.2241+393C>T (n.2241+393C>T)
c.2205+393C>T (n.2205+393C>T)
c.2556C>T (p.Pro852=)
c.2133+393C>T (n.2133+393C>T)
c.1680-5810C>T (n.1680-5810C>T)
c.2652C>T (p.Pro884=)
c.2718C>T (p.Pro906=)
c.2715C>T (p.Pro905=)
c.2688C>T (p.Pro896=)
c.2634C>T (p.Pro878=)
c.2607C>T (p.Pro869=)
c.2592C>T (p.Pro864=)
c.2199C>T (p.Pro733=)
c.2661C>T (p.Pro887=)
c.2598C>T (p.Pro866=)
c.2595C>T (p.Pro865=)
c.2553C>T (p.Pro851=)
c.1626C>T (p.Pro542=)
 dbSNP gnomAD v2
20g.63406653G>CCA511339167KCNQ2c.2664C>G (p.Pro888=)
c.2610C>G (p.Pro870=)
c.2007C>G (p.Pro669=)
c.2517C>G (p.Pro839=)
c.2178C>G (p.Pro726=)
c.2526C>G (p.Pro842=)
c.2241+393C>G (n.2241+393C>G)
c.2205+393C>G (n.2205+393C>G)
c.2556C>G (p.Pro852=)
c.2133+393C>G (n.2133+393C>G)
c.1680-5810C>G (n.1680-5810C>G)
c.2652C>G (p.Pro884=)
c.2718C>G (p.Pro906=)
c.2715C>G (p.Pro905=)
c.2688C>G (p.Pro896=)
c.2634C>G (p.Pro878=)
c.2607C>G (p.Pro869=)
c.2592C>G (p.Pro864=)
c.2199C>G (p.Pro733=)
c.2661C>G (p.Pro887=)
c.2598C>G (p.Pro866=)
c.2595C>G (p.Pro865=)
c.2553C>G (p.Pro851=)
c.1626C>G (p.Pro542=)
20g.63406653G=CA2374774174KCNQ2c.2664C= (p.Pro888=)
c.2610C= (p.Pro870=)
c.2007C= (p.Pro669=)
c.2517C= (p.Pro839=)
c.2178C= (p.Pro726=)
c.2526C= (p.Pro842=)
c.2241+393C= (n.2241+393C=)
c.2205+393C= (n.2205+393C=)
c.2556C= (p.Pro852=)
c.2133+393C= (n.2133+393C=)
c.1680-5810C= (n.1680-5810C=)
c.2652C= (p.Pro884=)
c.2718C= (p.Pro906=)
c.2715C= (p.Pro905=)
c.2688C= (p.Pro896=)
c.2634C= (p.Pro878=)
c.2607C= (p.Pro869=)
c.2592C= (p.Pro864=)
c.2199C= (p.Pro733=)
c.2661C= (p.Pro887=)
c.2598C= (p.Pro866=)
c.2595C= (p.Pro865=)
c.2553C= (p.Pro851=)
c.1626C= (p.Pro542=)
20g.63406653G>TCA511339168KCNQ2c.2664C>A (p.Pro888=)
c.2610C>A (p.Pro870=)
c.2007C>A (p.Pro669=)
c.2517C>A (p.Pro839=)
c.2178C>A (p.Pro726=)
c.2526C>A (p.Pro842=)
c.2241+393C>A (n.2241+393C>A)
c.2205+393C>A (n.2205+393C>A)
c.2556C>A (p.Pro852=)
c.2133+393C>A (n.2133+393C>A)
c.1680-5810C>A (n.1680-5810C>A)
c.2652C>A (p.Pro884=)
c.2718C>A (p.Pro906=)
c.2715C>A (p.Pro905=)
c.2688C>A (p.Pro896=)
c.2634C>A (p.Pro878=)
c.2607C>A (p.Pro869=)
c.2592C>A (p.Pro864=)
c.2199C>A (p.Pro733=)
c.2661C>A (p.Pro887=)
c.2598C>A (p.Pro866=)
c.2595C>A (p.Pro865=)
c.2553C>A (p.Pro851=)
c.1626C>A (p.Pro542=)
 gnomAD v4
20g.63406654G>ACA409636329KCNQ2c.2663C>T (p.Pro888Leu)
c.2609C>T (p.Pro870Leu)
c.2006C>T (p.Pro669Leu)
c.2516C>T (p.Pro839Leu)
c.2177C>T (p.Pro726Leu)
c.2525C>T (p.Pro842Leu)
c.2241+392C>T (n.2241+392C>T)
c.2205+392C>T (n.2205+392C>T)
c.2555C>T (p.Pro852Leu)
c.2133+392C>T (n.2133+392C>T)
c.1680-5811C>T (n.1680-5811C>T)
c.2651C>T (p.Pro884Leu)
c.2717C>T (p.Pro906Leu)
c.2714C>T (p.Pro905Leu)
c.2687C>T (p.Pro896Leu)
c.2633C>T (p.Pro878Leu)
c.2606C>T (p.Pro869Leu)
c.2591C>T (p.Pro864Leu)
c.2198C>T (p.Pro733Leu)
c.2660C>T (p.Pro887Leu)
c.2597C>T (p.Pro866Leu)
c.2594C>T (p.Pro865Leu)
c.2552C>T (p.Pro851Leu)
c.1625C>T (p.Pro542Leu)
20g.63406654G>CCA317421442KCNQ2c.2663C>G (p.Pro888Arg)
c.2609C>G (p.Pro870Arg)
c.2006C>G (p.Pro669Arg)
c.2516C>G (p.Pro839Arg)
c.2177C>G (p.Pro726Arg)
c.2525C>G (p.Pro842Arg)
c.2241+392C>G (n.2241+392C>G)
c.2205+392C>G (n.2205+392C>G)
c.2555C>G (p.Pro852Arg)
c.2133+392C>G (n.2133+392C>G)
c.1680-5811C>G (n.1680-5811C>G)
c.2651C>G (p.Pro884Arg)
c.2717C>G (p.Pro906Arg)
c.2714C>G (p.Pro905Arg)
c.2687C>G (p.Pro896Arg)
c.2633C>G (p.Pro878Arg)
c.2606C>G (p.Pro869Arg)
c.2591C>G (p.Pro864Arg)
c.2198C>G (p.Pro733Arg)
c.2660C>G (p.Pro887Arg)
c.2597C>G (p.Pro866Arg)
c.2594C>G (p.Pro865Arg)
c.2552C>G (p.Pro851Arg)
c.1625C>G (p.Pro542Arg)
 dbSNP
20g.63406654G=CA2374774175KCNQ2c.2663C= (p.Pro888=)
c.2609C= (p.Pro870=)
c.2006C= (p.Pro669=)
c.2516C= (p.Pro839=)
c.2177C= (p.Pro726=)
c.2525C= (p.Pro842=)
c.2241+392C= (n.2241+392C=)
c.2205+392C= (n.2205+392C=)
c.2555C= (p.Pro852=)
c.2133+392C= (n.2133+392C=)
c.1680-5811C= (n.1680-5811C=)
c.2651C= (p.Pro884=)
c.2717C= (p.Pro906=)
c.2714C= (p.Pro905=)
c.2687C= (p.Pro896=)
c.2633C= (p.Pro878=)
c.2606C= (p.Pro869=)
c.2591C= (p.Pro864=)
c.2198C= (p.Pro733=)
c.2660C= (p.Pro887=)
c.2597C= (p.Pro866=)
c.2594C= (p.Pro865=)
c.2552C= (p.Pro851=)
c.1625C= (p.Pro542=)
20g.63406654G>TCA409636333KCNQ2c.2663C>A (p.Pro888His)
c.2609C>A (p.Pro870His)
c.2006C>A (p.Pro669His)
c.2516C>A (p.Pro839His)
c.2177C>A (p.Pro726His)
c.2525C>A (p.Pro842His)
c.2241+392C>A (n.2241+392C>A)
c.2205+392C>A (n.2205+392C>A)
c.2555C>A (p.Pro852His)
c.2133+392C>A (n.2133+392C>A)
c.1680-5811C>A (n.1680-5811C>A)
c.2651C>A (p.Pro884His)
c.2717C>A (p.Pro906His)
c.2714C>A (p.Pro905His)
c.2687C>A (p.Pro896His)
c.2633C>A (p.Pro878His)
c.2606C>A (p.Pro869His)
c.2591C>A (p.Pro864His)
c.2198C>A (p.Pro733His)
c.2660C>A (p.Pro887His)
c.2597C>A (p.Pro866His)
c.2594C>A (p.Pro865His)
c.2552C>A (p.Pro851His)
c.1625C>A (p.Pro542His)
 gnomAD v4
20g.63406659_63406663dupCA342497KCNQ2c.2659_2663dup (p.Arg889GlyfsTer?)
c.2605_2609dup (p.Arg871GlyfsTer?)
c.2002_2006dup (p.Arg670GlyfsTer?)
c.2512_2516dup (p.Arg840GlyfsTer?)
c.2173_2177dup (p.Arg727GlyfsTer?)
c.2521_2525dup (p.Arg843GlyfsTer?)
c.2241+388_2241+392dup (n.2241+388_2241+392dup)
c.2205+388_2205+392dup (n.2205+388_2205+392dup)
c.2551_2555dup (p.Arg853GlyfsTer?)
c.2133+388_2133+392dup (n.2133+388_2133+392dup)
c.1680-5815_1680-5811dup (n.1680-5815_1680-5811dup)
c.2647_2651dup (p.Arg885GlyfsTer?)
c.2713_2717dup (p.Arg907GlyfsTer?)
c.2710_2714dup (p.Arg906GlyfsTer?)
c.2683_2687dup (p.Arg897GlyfsTer?)
c.2629_2633dup (p.Arg879GlyfsTer?)
c.2602_2606dup (p.Arg870GlyfsTer?)
c.2587_2591dup (p.Arg865GlyfsTer?)
c.2194_2198dup (p.Arg734GlyfsTer?)
c.2656_2660dup (p.Arg888GlyfsTer?)
c.2593_2597dup (p.Arg867GlyfsTer?)
c.2590_2594dup (p.Arg866GlyfsTer?)
c.2548_2552dup (p.Arg852GlyfsTer?)
c.1621_1625dup (p.Arg543GlyfsTer?)
 ClinVar dbSNP
20g.63406655G>ACA409636340KCNQ2c.2662C>T (p.Pro888Ser)
c.2608C>T (p.Pro870Ser)
c.2005C>T (p.Pro669Ser)
c.2515C>T (p.Pro839Ser)
c.2176C>T (p.Pro726Ser)
c.2524C>T (p.Pro842Ser)
c.2241+391C>T (n.2241+391C>T)
c.2205+391C>T (n.2205+391C>T)
c.2554C>T (p.Pro852Ser)
c.2133+391C>T (n.2133+391C>T)
c.1680-5812C>T (n.1680-5812C>T)
c.2650C>T (p.Pro884Ser)
c.2716C>T (p.Pro906Ser)
c.2713C>T (p.Pro905Ser)
c.2686C>T (p.Pro896Ser)
c.2632C>T (p.Pro878Ser)
c.2605C>T (p.Pro869Ser)
c.2590C>T (p.Pro864Ser)
c.2197C>T (p.Pro733Ser)
c.2659C>T (p.Pro887Ser)
c.2596C>T (p.Pro866Ser)
c.2593C>T (p.Pro865Ser)
c.2551C>T (p.Pro851Ser)
c.1624C>T (p.Pro542Ser)
 ClinVar gnomAD v4
20g.63406655G>CCA409636344KCNQ2c.2662C>G (p.Pro888Ala)
c.2608C>G (p.Pro870Ala)
c.2005C>G (p.Pro669Ala)
c.2515C>G (p.Pro839Ala)
c.2176C>G (p.Pro726Ala)
c.2524C>G (p.Pro842Ala)
c.2241+391C>G (n.2241+391C>G)
c.2205+391C>G (n.2205+391C>G)
c.2554C>G (p.Pro852Ala)
c.2133+391C>G (n.2133+391C>G)
c.1680-5812C>G (n.1680-5812C>G)
c.2650C>G (p.Pro884Ala)
c.2716C>G (p.Pro906Ala)
c.2713C>G (p.Pro905Ala)
c.2686C>G (p.Pro896Ala)
c.2632C>G (p.Pro878Ala)
c.2605C>G (p.Pro869Ala)
c.2590C>G (p.Pro864Ala)
c.2197C>G (p.Pro733Ala)
c.2659C>G (p.Pro887Ala)
c.2596C>G (p.Pro866Ala)
c.2593C>G (p.Pro865Ala)
c.2551C>G (p.Pro851Ala)
c.1624C>G (p.Pro542Ala)
20g.63406655G>TCA409636346KCNQ2c.2662C>A (p.Pro888Thr)
c.2608C>A (p.Pro870Thr)
c.2005C>A (p.Pro669Thr)
c.2515C>A (p.Pro839Thr)
c.2176C>A (p.Pro726Thr)
c.2524C>A (p.Pro842Thr)
c.2241+391C>A (n.2241+391C>A)
c.2205+391C>A (n.2205+391C>A)
c.2554C>A (p.Pro852Thr)
c.2133+391C>A (n.2133+391C>A)
c.1680-5812C>A (n.1680-5812C>A)
c.2650C>A (p.Pro884Thr)
c.2716C>A (p.Pro906Thr)
c.2713C>A (p.Pro905Thr)
c.2686C>A (p.Pro896Thr)
c.2632C>A (p.Pro878Thr)
c.2605C>A (p.Pro869Thr)
c.2590C>A (p.Pro864Thr)
c.2197C>A (p.Pro733Thr)
c.2659C>A (p.Pro887Thr)
c.2596C>A (p.Pro866Thr)
c.2593C>A (p.Pro865Thr)
c.2551C>A (p.Pro851Thr)
c.1624C>A (p.Pro542Thr)
 gnomAD v4
20g.63406656C>ACA511339170KCNQ2c.2661G>T (p.Gly887=)
c.2607G>T (p.Gly869=)
c.2004G>T (p.Gly668=)
c.2514G>T (p.Gly838=)
c.2175G>T (p.Gly725=)
c.2523G>T (p.Gly841=)
c.2241+390G>T (n.2241+390G>T)
c.2205+390G>T (n.2205+390G>T)
c.2553G>T (p.Gly851=)
c.2133+390G>T (n.2133+390G>T)
c.1680-5813G>T (n.1680-5813G>T)
c.2649G>T (p.Gly883=)
c.2715G>T (p.Gly905=)
c.2712G>T (p.Gly904=)
c.2685G>T (p.Gly895=)
c.2631G>T (p.Gly877=)
c.2604G>T (p.Gly868=)
c.2589G>T (p.Gly863=)
c.2196G>T (p.Gly732=)
c.2658G>T (p.Gly886=)
c.2595G>T (p.Gly865=)
c.2592G>T (p.Gly864=)
c.2550G>T (p.Gly850=)
c.1623G>T (p.Gly541=)
 gnomAD v4
20g.63406656C=CA2374774176KCNQ2c.2661G= (p.Gly887=)
c.2607G= (p.Gly869=)
c.2004G= (p.Gly668=)
c.2514G= (p.Gly838=)
c.2175G= (p.Gly725=)
c.2523G= (p.Gly841=)
c.2241+390G= (n.2241+390G=)
c.2205+390G= (n.2205+390G=)
c.2553G= (p.Gly851=)
c.2133+390G= (n.2133+390G=)
c.1680-5813G= (n.1680-5813G=)
c.2649G= (p.Gly883=)
c.2715G= (p.Gly905=)
c.2712G= (p.Gly904=)
c.2685G= (p.Gly895=)
c.2631G= (p.Gly877=)
c.2604G= (p.Gly868=)
c.2589G= (p.Gly863=)
c.2196G= (p.Gly732=)
c.2658G= (p.Gly886=)
c.2595G= (p.Gly865=)
c.2592G= (p.Gly864=)
c.2550G= (p.Gly850=)
c.1623G= (p.Gly541=)
20g.63406656C>GCA511339171KCNQ2c.2661G>C (p.Gly887=)
c.2607G>C (p.Gly869=)
c.2004G>C (p.Gly668=)
c.2514G>C (p.Gly838=)
c.2175G>C (p.Gly725=)
c.2523G>C (p.Gly841=)
c.2241+390G>C (n.2241+390G>C)
c.2205+390G>C (n.2205+390G>C)
c.2553G>C (p.Gly851=)
c.2133+390G>C (n.2133+390G>C)
c.1680-5813G>C (n.1680-5813G>C)
c.2649G>C (p.Gly883=)
c.2715G>C (p.Gly905=)
c.2712G>C (p.Gly904=)
c.2685G>C (p.Gly895=)
c.2631G>C (p.Gly877=)
c.2604G>C (p.Gly868=)
c.2589G>C (p.Gly863=)
c.2196G>C (p.Gly732=)
c.2658G>C (p.Gly886=)
c.2595G>C (p.Gly865=)
c.2592G>C (p.Gly864=)
c.2550G>C (p.Gly850=)
c.1623G>C (p.Gly541=)
 ClinVar
20g.63406656C>TCA511339172KCNQ2c.2661G>A (p.Gly887=)
c.2607G>A (p.Gly869=)
c.2004G>A (p.Gly668=)
c.2514G>A (p.Gly838=)
c.2175G>A (p.Gly725=)
c.2523G>A (p.Gly841=)
c.2241+390G>A (n.2241+390G>A)
c.2205+390G>A (n.2205+390G>A)
c.2553G>A (p.Gly851=)
c.2133+390G>A (n.2133+390G>A)
c.1680-5813G>A (n.1680-5813G>A)
c.2649G>A (p.Gly883=)
c.2715G>A (p.Gly905=)
c.2712G>A (p.Gly904=)
c.2685G>A (p.Gly895=)
c.2631G>A (p.Gly877=)
c.2604G>A (p.Gly868=)
c.2589G>A (p.Gly863=)
c.2196G>A (p.Gly732=)
c.2658G>A (p.Gly886=)
c.2595G>A (p.Gly865=)
c.2592G>A (p.Gly864=)
c.2550G>A (p.Gly850=)
c.1623G>A (p.Gly541=)
 dbSNP gnomAD v2 gnomAD v4
20g.63406658delCA2739277251KCNQ2c.2661del (p.Arg889GlyfsTer?)
c.2607del (p.Arg871GlyfsTer?)
c.2004del (p.Arg670GlyfsTer?)
c.2514del (p.Arg840GlyfsTer?)
c.2175del (p.Arg727GlyfsTer?)
c.2523del (p.Arg843GlyfsTer?)
c.2241+390del (n.2241+390del)
c.2205+390del (n.2205+390del)
c.2553del (p.Arg853GlyfsTer?)
c.2133+390del (n.2133+390del)
c.1680-5813del (n.1680-5813del)
c.2649del (p.Arg885GlyfsTer?)
c.2715del (p.Arg907GlyfsTer?)
c.2712del (p.Arg906GlyfsTer?)
c.2685del (p.Arg897GlyfsTer?)
c.2631del (p.Arg879GlyfsTer?)
c.2604del (p.Arg870GlyfsTer?)
c.2589del (p.Arg865GlyfsTer?)
c.2196del (p.Arg734GlyfsTer?)
c.2658del (p.Arg888GlyfsTer?)
c.2595del (p.Arg867GlyfsTer?)
c.2592del (p.Arg866GlyfsTer?)
c.2550del (p.Arg852GlyfsTer?)
c.1623del (p.Arg543GlyfsTer?)
 ClinVar
20g.63406657C>ACA317421445KCNQ2c.2660G>T (p.Gly887Val)
c.2606G>T (p.Gly869Val)
c.2003G>T (p.Gly668Val)
c.2513G>T (p.Gly838Val)
c.2174G>T (p.Gly725Val)
c.2522G>T (p.Gly841Val)
c.2241+389G>T (n.2241+389G>T)
c.2205+389G>T (n.2205+389G>T)
c.2552G>T (p.Gly851Val)
c.2133+389G>T (n.2133+389G>T)
c.1680-5814G>T (n.1680-5814G>T)
c.2648G>T (p.Gly883Val)
c.2714G>T (p.Gly905Val)
c.2711G>T (p.Gly904Val)
c.2684G>T (p.Gly895Val)
c.2630G>T (p.Gly877Val)
c.2603G>T (p.Gly868Val)
c.2588G>T (p.Gly863Val)
c.2195G>T (p.Gly732Val)
c.2657G>T (p.Gly886Val)
c.2594G>T (p.Gly865Val)
c.2591G>T (p.Gly864Val)
c.2549G>T (p.Gly850Val)
c.1622G>T (p.Gly541Val)
 dbSNP gnomAD v4
20g.63406657C=CA2374774177KCNQ2c.2660G= (p.Gly887=)
c.2606G= (p.Gly869=)
c.2003G= (p.Gly668=)
c.2513G= (p.Gly838=)
c.2174G= (p.Gly725=)
c.2522G= (p.Gly841=)
c.2241+389G= (n.2241+389G=)
c.2205+389G= (n.2205+389G=)
c.2552G= (p.Gly851=)
c.2133+389G= (n.2133+389G=)
c.1680-5814G= (n.1680-5814G=)
c.2648G= (p.Gly883=)
c.2714G= (p.Gly905=)
c.2711G= (p.Gly904=)
c.2684G= (p.Gly895=)
c.2630G= (p.Gly877=)
c.2603G= (p.Gly868=)
c.2588G= (p.Gly863=)
c.2195G= (p.Gly732=)
c.2657G= (p.Gly886=)
c.2594G= (p.Gly865=)
c.2591G= (p.Gly864=)
c.2549G= (p.Gly850=)
c.1622G= (p.Gly541=)
20g.63406657C>GCA409636351KCNQ2c.2660G>C (p.Gly887Ala)
c.2606G>C (p.Gly869Ala)
c.2003G>C (p.Gly668Ala)
c.2513G>C (p.Gly838Ala)
c.2174G>C (p.Gly725Ala)
c.2522G>C (p.Gly841Ala)
c.2241+389G>C (n.2241+389G>C)
c.2205+389G>C (n.2205+389G>C)
c.2552G>C (p.Gly851Ala)
c.2133+389G>C (n.2133+389G>C)
c.1680-5814G>C (n.1680-5814G>C)
c.2648G>C (p.Gly883Ala)
c.2714G>C (p.Gly905Ala)
c.2711G>C (p.Gly904Ala)
c.2684G>C (p.Gly895Ala)
c.2630G>C (p.Gly877Ala)
c.2603G>C (p.Gly868Ala)
c.2588G>C (p.Gly863Ala)
c.2195G>C (p.Gly732Ala)
c.2657G>C (p.Gly886Ala)
c.2594G>C (p.Gly865Ala)
c.2591G>C (p.Gly864Ala)
c.2549G>C (p.Gly850Ala)
c.1622G>C (p.Gly541Ala)
20g.63406657C>TCA409636355KCNQ2c.2660G>A (p.Gly887Glu)
c.2606G>A (p.Gly869Glu)
c.2003G>A (p.Gly668Glu)
c.2513G>A (p.Gly838Glu)
c.2174G>A (p.Gly725Glu)
c.2522G>A (p.Gly841Glu)
c.2241+389G>A (n.2241+389G>A)
c.2205+389G>A (n.2205+389G>A)
c.2552G>A (p.Gly851Glu)
c.2133+389G>A (n.2133+389G>A)
c.1680-5814G>A (n.1680-5814G>A)
c.2648G>A (p.Gly883Glu)
c.2714G>A (p.Gly905Glu)
c.2711G>A (p.Gly904Glu)
c.2684G>A (p.Gly895Glu)
c.2630G>A (p.Gly877Glu)
c.2603G>A (p.Gly868Glu)
c.2588G>A (p.Gly863Glu)
c.2195G>A (p.Gly732Glu)
c.2657G>A (p.Gly886Glu)
c.2594G>A (p.Gly865Glu)
c.2591G>A (p.Gly864Glu)
c.2549G>A (p.Gly850Glu)
c.1622G>A (p.Gly541Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406658C>ACA317421463KCNQ2c.2659G>T (p.Gly887Trp)
c.2605G>T (p.Gly869Trp)
c.2002G>T (p.Gly668Trp)
c.2512G>T (p.Gly838Trp)
c.2173G>T (p.Gly725Trp)
c.2521G>T (p.Gly841Trp)
c.2241+388G>T (n.2241+388G>T)
c.2205+388G>T (n.2205+388G>T)
c.2551G>T (p.Gly851Trp)
c.2133+388G>T (n.2133+388G>T)
c.1680-5815G>T (n.1680-5815G>T)
c.2647G>T (p.Gly883Trp)
c.2713G>T (p.Gly905Trp)
c.2710G>T (p.Gly904Trp)
c.2683G>T (p.Gly895Trp)
c.2629G>T (p.Gly877Trp)
c.2602G>T (p.Gly868Trp)
c.2587G>T (p.Gly863Trp)
c.2194G>T (p.Gly732Trp)
c.2656G>T (p.Gly886Trp)
c.2593G>T (p.Gly865Trp)
c.2590G>T (p.Gly864Trp)
c.2548G>T (p.Gly850Trp)
c.1621G>T (p.Gly541Trp)
 dbSNP gnomAD v4
20g.63406658C=CA2374774178KCNQ2c.2659G= (p.Gly887=)
c.2605G= (p.Gly869=)
c.2002G= (p.Gly668=)
c.2512G= (p.Gly838=)
c.2173G= (p.Gly725=)
c.2521G= (p.Gly841=)
c.2241+388G= (n.2241+388G=)
c.2205+388G= (n.2205+388G=)
c.2551G= (p.Gly851=)
c.2133+388G= (n.2133+388G=)
c.1680-5815G= (n.1680-5815G=)
c.2647G= (p.Gly883=)
c.2713G= (p.Gly905=)
c.2710G= (p.Gly904=)
c.2683G= (p.Gly895=)
c.2629G= (p.Gly877=)
c.2602G= (p.Gly868=)
c.2587G= (p.Gly863=)
c.2194G= (p.Gly732=)
c.2656G= (p.Gly886=)
c.2593G= (p.Gly865=)
c.2590G= (p.Gly864=)
c.2548G= (p.Gly850=)
c.1621G= (p.Gly541=)
20g.63406658C>GCA409636360KCNQ2c.2659G>C (p.Gly887Arg)
c.2605G>C (p.Gly869Arg)
c.2002G>C (p.Gly668Arg)
c.2512G>C (p.Gly838Arg)
c.2173G>C (p.Gly725Arg)
c.2521G>C (p.Gly841Arg)
c.2241+388G>C (n.2241+388G>C)
c.2205+388G>C (n.2205+388G>C)
c.2551G>C (p.Gly851Arg)
c.2133+388G>C (n.2133+388G>C)
c.1680-5815G>C (n.1680-5815G>C)
c.2647G>C (p.Gly883Arg)
c.2713G>C (p.Gly905Arg)
c.2710G>C (p.Gly904Arg)
c.2683G>C (p.Gly895Arg)
c.2629G>C (p.Gly877Arg)
c.2602G>C (p.Gly868Arg)
c.2587G>C (p.Gly863Arg)
c.2194G>C (p.Gly732Arg)
c.2656G>C (p.Gly886Arg)
c.2593G>C (p.Gly865Arg)
c.2590G>C (p.Gly864Arg)
c.2548G>C (p.Gly850Arg)
c.1621G>C (p.Gly541Arg)
20g.63406658C>TCA409636358KCNQ2c.2659G>A (p.Gly887Arg)
c.2605G>A (p.Gly869Arg)
c.2002G>A (p.Gly668Arg)
c.2512G>A (p.Gly838Arg)
c.2173G>A (p.Gly725Arg)
c.2521G>A (p.Gly841Arg)
c.2241+388G>A (n.2241+388G>A)
c.2205+388G>A (n.2205+388G>A)
c.2551G>A (p.Gly851Arg)
c.2133+388G>A (n.2133+388G>A)
c.1680-5815G>A (n.1680-5815G>A)
c.2647G>A (p.Gly883Arg)
c.2713G>A (p.Gly905Arg)
c.2710G>A (p.Gly904Arg)
c.2683G>A (p.Gly895Arg)
c.2629G>A (p.Gly877Arg)
c.2602G>A (p.Gly868Arg)
c.2587G>A (p.Gly863Arg)
c.2194G>A (p.Gly732Arg)
c.2656G>A (p.Gly886Arg)
c.2593G>A (p.Gly865Arg)
c.2590G>A (p.Gly864Arg)
c.2548G>A (p.Gly850Arg)
c.1621G>A (p.Gly541Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406658_63406659insACTCA2374774179KCNQ2c.2658_2659insAGT (p.Ala886_Gly887insSer)
c.2604_2605insAGT (p.Ala868_Gly869insSer)
c.2001_2002insAGT (p.Ala667_Gly668insSer)
c.2511_2512insAGT (p.Ala837_Gly838insSer)
c.2172_2173insAGT (p.Ala724_Gly725insSer)
c.2520_2521insAGT (p.Ala840_Gly841insSer)
c.2241+387_2241+388insAGT (n.2241+387_2241+388insAGT)
c.2205+387_2205+388insAGT (n.2205+387_2205+388insAGT)
c.2550_2551insAGT (p.Ala850_Gly851insSer)
c.2133+387_2133+388insAGT (n.2133+387_2133+388insAGT)
c.1680-5816_1680-5815insAGT (n.1680-5816_1680-5815insAGT)
c.2646_2647insAGT (p.Ala882_Gly883insSer)
c.2712_2713insAGT (p.Ala904_Gly905insSer)
c.2709_2710insAGT (p.Ala903_Gly904insSer)
c.2682_2683insAGT (p.Ala894_Gly895insSer)
c.2628_2629insAGT (p.Ala876_Gly877insSer)
c.2601_2602insAGT (p.Ala867_Gly868insSer)
c.2586_2587insAGT (p.Ala862_Gly863insSer)
c.2193_2194insAGT (p.Ala731_Gly732insSer)
c.2655_2656insAGT (p.Ala885_Gly886insSer)
c.2592_2593insAGT (p.Ala864_Gly865insSer)
c.2589_2590insAGT (p.Ala863_Gly864insSer)
c.2547_2548insAGT (p.Ala849_Gly850insSer)
c.1620_1621insAGT (p.Ala540_Gly541insSer)
 dbSNP
20g.63406659G>ACA9958051KCNQ2c.2658C>T (p.Ala886=)
c.2604C>T (p.Ala868=)
c.2001C>T (p.Ala667=)
c.2511C>T (p.Ala837=)
c.2172C>T (p.Ala724=)
c.2520C>T (p.Ala840=)
c.2241+387C>T (n.2241+387C>T)
c.2205+387C>T (n.2205+387C>T)
c.2550C>T (p.Ala850=)
c.2133+387C>T (n.2133+387C>T)
c.1680-5816C>T (n.1680-5816C>T)
c.2646C>T (p.Ala882=)
c.2712C>T (p.Ala904=)
c.2709C>T (p.Ala903=)
c.2682C>T (p.Ala894=)
c.2628C>T (p.Ala876=)
c.2601C>T (p.Ala867=)
c.2586C>T (p.Ala862=)
c.2193C>T (p.Ala731=)
c.2655C>T (p.Ala885=)
c.2592C>T (p.Ala864=)
c.2589C>T (p.Ala863=)
c.2547C>T (p.Ala849=)
c.1620C>T (p.Ala540=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406659G>CCA511339173KCNQ2c.2658C>G (p.Ala886=)
c.2604C>G (p.Ala868=)
c.2001C>G (p.Ala667=)
c.2511C>G (p.Ala837=)
c.2172C>G (p.Ala724=)
c.2520C>G (p.Ala840=)
c.2241+387C>G (n.2241+387C>G)
c.2205+387C>G (n.2205+387C>G)
c.2550C>G (p.Ala850=)
c.2133+387C>G (n.2133+387C>G)
c.1680-5816C>G (n.1680-5816C>G)
c.2646C>G (p.Ala882=)
c.2712C>G (p.Ala904=)
c.2709C>G (p.Ala903=)
c.2682C>G (p.Ala894=)
c.2628C>G (p.Ala876=)
c.2601C>G (p.Ala867=)
c.2586C>G (p.Ala862=)
c.2193C>G (p.Ala731=)
c.2655C>G (p.Ala885=)
c.2592C>G (p.Ala864=)
c.2589C>G (p.Ala863=)
c.2547C>G (p.Ala849=)
c.1620C>G (p.Ala540=)
20g.63406659G=CA2374774180KCNQ2c.2658C= (p.Ala886=)
c.2604C= (p.Ala868=)
c.2001C= (p.Ala667=)
c.2511C= (p.Ala837=)
c.2172C= (p.Ala724=)
c.2520C= (p.Ala840=)
c.2241+387C= (n.2241+387C=)
c.2205+387C= (n.2205+387C=)
c.2550C= (p.Ala850=)
c.2133+387C= (n.2133+387C=)
c.1680-5816C= (n.1680-5816C=)
c.2646C= (p.Ala882=)
c.2712C= (p.Ala904=)
c.2709C= (p.Ala903=)
c.2682C= (p.Ala894=)
c.2628C= (p.Ala876=)
c.2601C= (p.Ala867=)
c.2586C= (p.Ala862=)
c.2193C= (p.Ala731=)
c.2655C= (p.Ala885=)
c.2592C= (p.Ala864=)
c.2589C= (p.Ala863=)
c.2547C= (p.Ala849=)
c.1620C= (p.Ala540=)
20g.63406659G>TCA511339174KCNQ2c.2658C>A (p.Ala886=)
c.2604C>A (p.Ala868=)
c.2001C>A (p.Ala667=)
c.2511C>A (p.Ala837=)
c.2172C>A (p.Ala724=)
c.2520C>A (p.Ala840=)
c.2241+387C>A (n.2241+387C>A)
c.2205+387C>A (n.2205+387C>A)
c.2550C>A (p.Ala850=)
c.2133+387C>A (n.2133+387C>A)
c.1680-5816C>A (n.1680-5816C>A)
c.2646C>A (p.Ala882=)
c.2712C>A (p.Ala904=)
c.2709C>A (p.Ala903=)
c.2682C>A (p.Ala894=)
c.2628C>A (p.Ala876=)
c.2601C>A (p.Ala867=)
c.2586C>A (p.Ala862=)
c.2193C>A (p.Ala731=)
c.2655C>A (p.Ala885=)
c.2592C>A (p.Ala864=)
c.2589C>A (p.Ala863=)
c.2547C>A (p.Ala849=)
c.1620C>A (p.Ala540=)
 gnomAD v4
20g.63406660G>ACA409636366KCNQ2c.2657C>T (p.Ala886Val)
c.2603C>T (p.Ala868Val)
c.2000C>T (p.Ala667Val)
c.2510C>T (p.Ala837Val)
c.2171C>T (p.Ala724Val)
c.2519C>T (p.Ala840Val)
c.2241+386C>T (n.2241+386C>T)
c.2205+386C>T (n.2205+386C>T)
c.2549C>T (p.Ala850Val)
c.2133+386C>T (n.2133+386C>T)
c.1680-5817C>T (n.1680-5817C>T)
c.2645C>T (p.Ala882Val)
c.2711C>T (p.Ala904Val)
c.2708C>T (p.Ala903Val)
c.2681C>T (p.Ala894Val)
c.2627C>T (p.Ala876Val)
c.2600C>T (p.Ala867Val)
c.2585C>T (p.Ala862Val)
c.2192C>T (p.Ala731Val)
c.2654C>T (p.Ala885Val)
c.2591C>T (p.Ala864Val)
c.2588C>T (p.Ala863Val)
c.2546C>T (p.Ala849Val)
c.1619C>T (p.Ala540Val)
 gnomAD v4
20g.63406660G>CCA409636369KCNQ2c.2657C>G (p.Ala886Gly)
c.2603C>G (p.Ala868Gly)
c.2000C>G (p.Ala667Gly)
c.2510C>G (p.Ala837Gly)
c.2171C>G (p.Ala724Gly)
c.2519C>G (p.Ala840Gly)
c.2241+386C>G (n.2241+386C>G)
c.2205+386C>G (n.2205+386C>G)
c.2549C>G (p.Ala850Gly)
c.2133+386C>G (n.2133+386C>G)
c.1680-5817C>G (n.1680-5817C>G)
c.2645C>G (p.Ala882Gly)
c.2711C>G (p.Ala904Gly)
c.2708C>G (p.Ala903Gly)
c.2681C>G (p.Ala894Gly)
c.2627C>G (p.Ala876Gly)
c.2600C>G (p.Ala867Gly)
c.2585C>G (p.Ala862Gly)
c.2192C>G (p.Ala731Gly)
c.2654C>G (p.Ala885Gly)
c.2591C>G (p.Ala864Gly)
c.2588C>G (p.Ala863Gly)
c.2546C>G (p.Ala849Gly)
c.1619C>G (p.Ala540Gly)
20g.63406660G>TCA409636371KCNQ2c.2657C>A (p.Ala886Asp)
c.2603C>A (p.Ala868Asp)
c.2000C>A (p.Ala667Asp)
c.2510C>A (p.Ala837Asp)
c.2171C>A (p.Ala724Asp)
c.2519C>A (p.Ala840Asp)
c.2241+386C>A (n.2241+386C>A)
c.2205+386C>A (n.2205+386C>A)
c.2549C>A (p.Ala850Asp)
c.2133+386C>A (n.2133+386C>A)
c.1680-5817C>A (n.1680-5817C>A)
c.2645C>A (p.Ala882Asp)
c.2711C>A (p.Ala904Asp)
c.2708C>A (p.Ala903Asp)
c.2681C>A (p.Ala894Asp)
c.2627C>A (p.Ala876Asp)
c.2600C>A (p.Ala867Asp)
c.2585C>A (p.Ala862Asp)
c.2192C>A (p.Ala731Asp)
c.2654C>A (p.Ala885Asp)
c.2591C>A (p.Ala864Asp)
c.2588C>A (p.Ala863Asp)
c.2546C>A (p.Ala849Asp)
c.1619C>A (p.Ala540Asp)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406665_63406669dupCA10654777KCNQ2c.2653_2657dup (p.Arg889GlyfsTer?)
c.2599_2603dup (p.Arg871GlyfsTer?)
c.1996_2000dup (p.Arg670GlyfsTer?)
c.2506_2510dup (p.Arg840GlyfsTer?)
c.2167_2171dup (p.Arg727GlyfsTer?)
c.2515_2519dup (p.Arg843GlyfsTer?)
c.2241+382_2241+386dup (n.2241+382_2241+386dup)
c.2205+382_2205+386dup (n.2205+382_2205+386dup)
c.2545_2549dup (p.Arg853GlyfsTer?)
c.2133+382_2133+386dup (n.2133+382_2133+386dup)
c.1680-5821_1680-5817dup (n.1680-5821_1680-5817dup)
c.2641_2645dup (p.Arg885GlyfsTer?)
c.2707_2711dup (p.Arg907GlyfsTer?)
c.2704_2708dup (p.Arg906GlyfsTer?)
c.2677_2681dup (p.Arg897GlyfsTer?)
c.2623_2627dup (p.Arg879GlyfsTer?)
c.2596_2600dup (p.Arg870GlyfsTer?)
c.2581_2585dup (p.Arg865GlyfsTer?)
c.2188_2192dup (p.Arg734GlyfsTer?)
c.2650_2654dup (p.Arg888GlyfsTer?)
c.2587_2591dup (p.Arg867GlyfsTer?)
c.2584_2588dup (p.Arg866GlyfsTer?)
c.2542_2546dup (p.Arg852GlyfsTer?)
c.1615_1619dup (p.Arg543GlyfsTer?)
 ClinVar dbSNP
20g.63406661C>ACA409636376KCNQ2c.2656G>T (p.Ala886Ser)
c.2602G>T (p.Ala868Ser)
c.1999G>T (p.Ala667Ser)
c.2509G>T (p.Ala837Ser)
c.2170G>T (p.Ala724Ser)
c.2518G>T (p.Ala840Ser)
c.2241+385G>T (n.2241+385G>T)
c.2205+385G>T (n.2205+385G>T)
c.2548G>T (p.Ala850Ser)
c.2133+385G>T (n.2133+385G>T)
c.1680-5818G>T (n.1680-5818G>T)
c.2644G>T (p.Ala882Ser)
c.2710G>T (p.Ala904Ser)
c.2707G>T (p.Ala903Ser)
c.2680G>T (p.Ala894Ser)
c.2626G>T (p.Ala876Ser)
c.2599G>T (p.Ala867Ser)
c.2584G>T (p.Ala862Ser)
c.2191G>T (p.Ala731Ser)
c.2653G>T (p.Ala885Ser)
c.2590G>T (p.Ala864Ser)
c.2587G>T (p.Ala863Ser)
c.2545G>T (p.Ala849Ser)
c.1618G>T (p.Ala540Ser)
 gnomAD v4
20g.63406661C=CA2374774181KCNQ2c.2656G= (p.Ala886=)
c.2602G= (p.Ala868=)
c.1999G= (p.Ala667=)
c.2509G= (p.Ala837=)
c.2170G= (p.Ala724=)
c.2518G= (p.Ala840=)
c.2241+385G= (n.2241+385G=)
c.2205+385G= (n.2205+385G=)
c.2548G= (p.Ala850=)
c.2133+385G= (n.2133+385G=)
c.1680-5818G= (n.1680-5818G=)
c.2644G= (p.Ala882=)
c.2710G= (p.Ala904=)
c.2707G= (p.Ala903=)
c.2680G= (p.Ala894=)
c.2626G= (p.Ala876=)
c.2599G= (p.Ala867=)
c.2584G= (p.Ala862=)
c.2191G= (p.Ala731=)
c.2653G= (p.Ala885=)
c.2590G= (p.Ala864=)
c.2587G= (p.Ala863=)
c.2545G= (p.Ala849=)
c.1618G= (p.Ala540=)
20g.63406661C>GCA9958052KCNQ2c.2656G>C (p.Ala886Pro)
c.2602G>C (p.Ala868Pro)
c.1999G>C (p.Ala667Pro)
c.2509G>C (p.Ala837Pro)
c.2170G>C (p.Ala724Pro)
c.2518G>C (p.Ala840Pro)
c.2241+385G>C (n.2241+385G>C)
c.2205+385G>C (n.2205+385G>C)
c.2548G>C (p.Ala850Pro)
c.2133+385G>C (n.2133+385G>C)
c.1680-5818G>C (n.1680-5818G>C)
c.2644G>C (p.Ala882Pro)
c.2710G>C (p.Ala904Pro)
c.2707G>C (p.Ala903Pro)
c.2680G>C (p.Ala894Pro)
c.2626G>C (p.Ala876Pro)
c.2599G>C (p.Ala867Pro)
c.2584G>C (p.Ala862Pro)
c.2191G>C (p.Ala731Pro)
c.2653G>C (p.Ala885Pro)
c.2590G>C (p.Ala864Pro)
c.2587G>C (p.Ala863Pro)
c.2545G>C (p.Ala849Pro)
c.1618G>C (p.Ala540Pro)
 ClinVar dbSNP ExAC
20g.63406661C>TCA409636374KCNQ2c.2656G>A (p.Ala886Thr)
c.2602G>A (p.Ala868Thr)
c.1999G>A (p.Ala667Thr)
c.2509G>A (p.Ala837Thr)
c.2170G>A (p.Ala724Thr)
c.2518G>A (p.Ala840Thr)
c.2241+385G>A (n.2241+385G>A)
c.2205+385G>A (n.2205+385G>A)
c.2548G>A (p.Ala850Thr)
c.2133+385G>A (n.2133+385G>A)
c.1680-5818G>A (n.1680-5818G>A)
c.2644G>A (p.Ala882Thr)
c.2710G>A (p.Ala904Thr)
c.2707G>A (p.Ala903Thr)
c.2680G>A (p.Ala894Thr)
c.2626G>A (p.Ala876Thr)
c.2599G>A (p.Ala867Thr)
c.2584G>A (p.Ala862Thr)
c.2191G>A (p.Ala731Thr)
c.2653G>A (p.Ala885Thr)
c.2590G>A (p.Ala864Thr)
c.2587G>A (p.Ala863Thr)
c.2545G>A (p.Ala849Thr)
c.1618G>A (p.Ala540Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.63406662C>ACA409636379KCNQ2c.2655G>T (p.Trp885Cys)
c.2601G>T (p.Trp867Cys)
c.1998G>T (p.Trp666Cys)
c.2508G>T (p.Trp836Cys)
c.2169G>T (p.Trp723Cys)
c.2517G>T (p.Trp839Cys)
c.2241+384G>T (n.2241+384G>T)
c.2205+384G>T (n.2205+384G>T)
c.2547G>T (p.Trp849Cys)
c.2133+384G>T (n.2133+384G>T)
c.1680-5819G>T (n.1680-5819G>T)
c.2643G>T (p.Trp881Cys)
c.2709G>T (p.Trp903Cys)
c.2706G>T (p.Trp902Cys)
c.2679G>T (p.Trp893Cys)
c.2625G>T (p.Trp875Cys)
c.2598G>T (p.Trp866Cys)
c.2583G>T (p.Trp861Cys)
c.2190G>T (p.Trp730Cys)
c.2652G>T (p.Trp884Cys)
c.2589G>T (p.Trp863Cys)
c.2586G>T (p.Trp862Cys)
c.2544G>T (p.Trp848Cys)
c.1617G>T (p.Trp539Cys)
20g.63406662C>GCA409636381KCNQ2c.2655G>C (p.Trp885Cys)
c.2601G>C (p.Trp867Cys)
c.1998G>C (p.Trp666Cys)
c.2508G>C (p.Trp836Cys)
c.2169G>C (p.Trp723Cys)
c.2517G>C (p.Trp839Cys)
c.2241+384G>C (n.2241+384G>C)
c.2205+384G>C (n.2205+384G>C)
c.2547G>C (p.Trp849Cys)
c.2133+384G>C (n.2133+384G>C)
c.1680-5819G>C (n.1680-5819G>C)
c.2643G>C (p.Trp881Cys)
c.2709G>C (p.Trp903Cys)
c.2706G>C (p.Trp902Cys)
c.2679G>C (p.Trp893Cys)
c.2625G>C (p.Trp875Cys)
c.2598G>C (p.Trp866Cys)
c.2583G>C (p.Trp861Cys)
c.2190G>C (p.Trp730Cys)
c.2652G>C (p.Trp884Cys)
c.2589G>C (p.Trp863Cys)
c.2586G>C (p.Trp862Cys)
c.2544G>C (p.Trp848Cys)
c.1617G>C (p.Trp539Cys)
20g.63406662C>TCA409636383KCNQ2c.2655G>A (p.Trp885Ter)
c.2601G>A (p.Trp867Ter)
c.1998G>A (p.Trp666Ter)
c.2508G>A (p.Trp836Ter)
c.2169G>A (p.Trp723Ter)
c.2517G>A (p.Trp839Ter)
c.2241+384G>A (n.2241+384G>A)
c.2205+384G>A (n.2205+384G>A)
c.2547G>A (p.Trp849Ter)
c.2133+384G>A (n.2133+384G>A)
c.1680-5819G>A (n.1680-5819G>A)
c.2643G>A (p.Trp881Ter)
c.2709G>A (p.Trp903Ter)
c.2706G>A (p.Trp902Ter)
c.2679G>A (p.Trp893Ter)
c.2625G>A (p.Trp875Ter)
c.2598G>A (p.Trp866Ter)
c.2583G>A (p.Trp861Ter)
c.2190G>A (p.Trp730Ter)
c.2652G>A (p.Trp884Ter)
c.2589G>A (p.Trp863Ter)
c.2586G>A (p.Trp862Ter)
c.2544G>A (p.Trp848Ter)
c.1617G>A (p.Trp539Ter)
 gnomAD v4
20g.63406663C>ACA409636384KCNQ2c.2654G>T (p.Trp885Leu)
c.2600G>T (p.Trp867Leu)
c.1997G>T (p.Trp666Leu)
c.2507G>T (p.Trp836Leu)
c.2168G>T (p.Trp723Leu)
c.2516G>T (p.Trp839Leu)
c.2241+383G>T (n.2241+383G>T)
c.2205+383G>T (n.2205+383G>T)
c.2546G>T (p.Trp849Leu)
c.2133+383G>T (n.2133+383G>T)
c.1680-5820G>T (n.1680-5820G>T)
c.2642G>T (p.Trp881Leu)
c.2708G>T (p.Trp903Leu)
c.2705G>T (p.Trp902Leu)
c.2678G>T (p.Trp893Leu)
c.2624G>T (p.Trp875Leu)
c.2597G>T (p.Trp866Leu)
c.2582G>T (p.Trp861Leu)
c.2189G>T (p.Trp730Leu)
c.2651G>T (p.Trp884Leu)
c.2588G>T (p.Trp863Leu)
c.2585G>T (p.Trp862Leu)
c.2543G>T (p.Trp848Leu)
c.1616G>T (p.Trp539Leu)
 gnomAD v4
20g.63406663C>GCA409636385KCNQ2c.2654G>C (p.Trp885Ser)
c.2600G>C (p.Trp867Ser)
c.1997G>C (p.Trp666Ser)
c.2507G>C (p.Trp836Ser)
c.2168G>C (p.Trp723Ser)
c.2516G>C (p.Trp839Ser)
c.2241+383G>C (n.2241+383G>C)
c.2205+383G>C (n.2205+383G>C)
c.2546G>C (p.Trp849Ser)
c.2133+383G>C (n.2133+383G>C)
c.1680-5820G>C (n.1680-5820G>C)
c.2642G>C (p.Trp881Ser)
c.2708G>C (p.Trp903Ser)
c.2705G>C (p.Trp902Ser)
c.2678G>C (p.Trp893Ser)
c.2624G>C (p.Trp875Ser)
c.2597G>C (p.Trp866Ser)
c.2582G>C (p.Trp861Ser)
c.2189G>C (p.Trp730Ser)
c.2651G>C (p.Trp884Ser)
c.2588G>C (p.Trp863Ser)
c.2585G>C (p.Trp862Ser)
c.2543G>C (p.Trp848Ser)
c.1616G>C (p.Trp539Ser)
20g.63406663C>TCA409636387KCNQ2c.2654G>A (p.Trp885Ter)
c.2600G>A (p.Trp867Ter)
c.1997G>A (p.Trp666Ter)
c.2507G>A (p.Trp836Ter)
c.2168G>A (p.Trp723Ter)
c.2516G>A (p.Trp839Ter)
c.2241+383G>A (n.2241+383G>A)
c.2205+383G>A (n.2205+383G>A)
c.2546G>A (p.Trp849Ter)
c.2133+383G>A (n.2133+383G>A)
c.1680-5820G>A (n.1680-5820G>A)
c.2642G>A (p.Trp881Ter)
c.2708G>A (p.Trp903Ter)
c.2705G>A (p.Trp902Ter)
c.2678G>A (p.Trp893Ter)
c.2624G>A (p.Trp875Ter)
c.2597G>A (p.Trp866Ter)
c.2582G>A (p.Trp861Ter)
c.2189G>A (p.Trp730Ter)
c.2651G>A (p.Trp884Ter)
c.2588G>A (p.Trp863Ter)
c.2585G>A (p.Trp862Ter)
c.2543G>A (p.Trp848Ter)
c.1616G>A (p.Trp539Ter)
20g.63406664A=CA2374774182KCNQ2c.2653T= (p.Trp885=)
c.2599T= (p.Trp867=)
c.1996T= (p.Trp666=)
c.2506T= (p.Trp836=)
c.2167T= (p.Trp723=)
c.2515T= (p.Trp839=)
c.2241+382T= (n.2241+382T=)
c.2205+382T= (n.2205+382T=)
c.2545T= (p.Trp849=)
c.2133+382T= (n.2133+382T=)
c.1680-5821T= (n.1680-5821T=)
c.2641T= (p.Trp881=)
c.2707T= (p.Trp903=)
c.2704T= (p.Trp902=)
c.2677T= (p.Trp893=)
c.2623T= (p.Trp875=)
c.2596T= (p.Trp866=)
c.2581T= (p.Trp861=)
c.2188T= (p.Trp730=)
c.2650T= (p.Trp884=)
c.2587T= (p.Trp863=)
c.2584T= (p.Trp862=)
c.2542T= (p.Trp848=)
c.1615T= (p.Trp539=)
20g.63406664A>CCA409636389KCNQ2c.2653T>G (p.Trp885Gly)
c.2599T>G (p.Trp867Gly)
c.1996T>G (p.Trp666Gly)
c.2506T>G (p.Trp836Gly)
c.2167T>G (p.Trp723Gly)
c.2515T>G (p.Trp839Gly)
c.2241+382T>G (n.2241+382T>G)
c.2205+382T>G (n.2205+382T>G)
c.2545T>G (p.Trp849Gly)
c.2133+382T>G (n.2133+382T>G)
c.1680-5821T>G (n.1680-5821T>G)
c.2641T>G (p.Trp881Gly)
c.2707T>G (p.Trp903Gly)
c.2704T>G (p.Trp902Gly)
c.2677T>G (p.Trp893Gly)
c.2623T>G (p.Trp875Gly)
c.2596T>G (p.Trp866Gly)
c.2581T>G (p.Trp861Gly)
c.2188T>G (p.Trp730Gly)
c.2650T>G (p.Trp884Gly)
c.2587T>G (p.Trp863Gly)
c.2584T>G (p.Trp862Gly)
c.2542T>G (p.Trp848Gly)
c.1615T>G (p.Trp539Gly)
20g.63406664A>GCA409636393KCNQ2c.2653T>C (p.Trp885Arg)
c.2599T>C (p.Trp867Arg)
c.1996T>C (p.Trp666Arg)
c.2506T>C (p.Trp836Arg)
c.2167T>C (p.Trp723Arg)
c.2515T>C (p.Trp839Arg)
c.2241+382T>C (n.2241+382T>C)
c.2205+382T>C (n.2205+382T>C)
c.2545T>C (p.Trp849Arg)
c.2133+382T>C (n.2133+382T>C)
c.1680-5821T>C (n.1680-5821T>C)
c.2641T>C (p.Trp881Arg)
c.2707T>C (p.Trp903Arg)
c.2704T>C (p.Trp902Arg)
c.2677T>C (p.Trp893Arg)
c.2623T>C (p.Trp875Arg)
c.2596T>C (p.Trp866Arg)
c.2581T>C (p.Trp861Arg)
c.2188T>C (p.Trp730Arg)
c.2650T>C (p.Trp884Arg)
c.2587T>C (p.Trp863Arg)
c.2584T>C (p.Trp862Arg)
c.2542T>C (p.Trp848Arg)
c.1615T>C (p.Trp539Arg)
 ClinVar dbSNP COSMIC COSMIC COSMIC
20g.63406664A>TCA409636391KCNQ2c.2653T>A (p.Trp885Arg)
c.2599T>A (p.Trp867Arg)
c.1996T>A (p.Trp666Arg)
c.2506T>A (p.Trp836Arg)
c.2167T>A (p.Trp723Arg)
c.2515T>A (p.Trp839Arg)
c.2241+382T>A (n.2241+382T>A)
c.2205+382T>A (n.2205+382T>A)
c.2545T>A (p.Trp849Arg)
c.2133+382T>A (n.2133+382T>A)
c.1680-5821T>A (n.1680-5821T>A)
c.2641T>A (p.Trp881Arg)
c.2707T>A (p.Trp903Arg)
c.2704T>A (p.Trp902Arg)
c.2677T>A (p.Trp893Arg)
c.2623T>A (p.Trp875Arg)
c.2596T>A (p.Trp866Arg)
c.2581T>A (p.Trp861Arg)
c.2188T>A (p.Trp730Arg)
c.2650T>A (p.Trp884Arg)
c.2587T>A (p.Trp863Arg)
c.2584T>A (p.Trp862Arg)
c.2542T>A (p.Trp848Arg)
c.1615T>A (p.Trp539Arg)
20g.63406665G>ACA511339177KCNQ2c.2652C>T (p.Gly884=)
c.2598C>T (p.Gly866=)
c.1995C>T (p.Gly665=)
c.2505C>T (p.Gly835=)
c.2166C>T (p.Gly722=)
c.2514C>T (p.Gly838=)
c.2241+381C>T (n.2241+381C>T)
c.2205+381C>T (n.2205+381C>T)
c.2544C>T (p.Gly848=)
c.2133+381C>T (n.2133+381C>T)
c.1680-5822C>T (n.1680-5822C>T)
c.2640C>T (p.Gly880=)
c.2706C>T (p.Gly902=)
c.2703C>T (p.Gly901=)
c.2676C>T (p.Gly892=)
c.2622C>T (p.Gly874=)
c.2595C>T (p.Gly865=)
c.2580C>T (p.Gly860=)
c.2187C>T (p.Gly729=)
c.2649C>T (p.Gly883=)
c.2586C>T (p.Gly862=)
c.2583C>T (p.Gly861=)
c.2541C>T (p.Gly847=)
c.1614C>T (p.Gly538=)
 dbSNP gnomAD v4
20g.63406665G>CCA511339176KCNQ2c.2652C>G (p.Gly884=)
c.2598C>G (p.Gly866=)
c.1995C>G (p.Gly665=)
c.2505C>G (p.Gly835=)
c.2166C>G (p.Gly722=)
c.2514C>G (p.Gly838=)
c.2241+381C>G (n.2241+381C>G)
c.2205+381C>G (n.2205+381C>G)
c.2544C>G (p.Gly848=)
c.2133+381C>G (n.2133+381C>G)
c.1680-5822C>G (n.1680-5822C>G)
c.2640C>G (p.Gly880=)
c.2706C>G (p.Gly902=)
c.2703C>G (p.Gly901=)
c.2676C>G (p.Gly892=)
c.2622C>G (p.Gly874=)
c.2595C>G (p.Gly865=)
c.2580C>G (p.Gly860=)
c.2187C>G (p.Gly729=)
c.2649C>G (p.Gly883=)
c.2586C>G (p.Gly862=)
c.2583C>G (p.Gly861=)
c.2541C>G (p.Gly847=)
c.1614C>G (p.Gly538=)
20g.63406665G>TCA511339175KCNQ2c.2652C>A (p.Gly884=)
c.2598C>A (p.Gly866=)
c.1995C>A (p.Gly665=)
c.2505C>A (p.Gly835=)
c.2166C>A (p.Gly722=)
c.2514C>A (p.Gly838=)
c.2241+381C>A (n.2241+381C>A)
c.2205+381C>A (n.2205+381C>A)
c.2544C>A (p.Gly848=)
c.2133+381C>A (n.2133+381C>A)
c.1680-5822C>A (n.1680-5822C>A)
c.2640C>A (p.Gly880=)
c.2706C>A (p.Gly902=)
c.2703C>A (p.Gly901=)
c.2676C>A (p.Gly892=)
c.2622C>A (p.Gly874=)
c.2595C>A (p.Gly865=)
c.2580C>A (p.Gly860=)
c.2187C>A (p.Gly729=)
c.2649C>A (p.Gly883=)
c.2586C>A (p.Gly862=)
c.2583C>A (p.Gly861=)
c.2541C>A (p.Gly847=)
c.1614C>A (p.Gly538=)
 gnomAD v4
20g.63406665_63406666delinsGCCA2374774183KCNQ2c.2651_2652delinsGC (p.Gly884=)
c.2597_2598delinsGC (p.Gly866=)
c.1994_1995delinsGC (p.Gly665=)
c.2504_2505delinsGC (p.Gly835=)
c.2165_2166delinsGC (p.Gly722=)
c.2513_2514delinsGC (p.Gly838=)
c.2241+380_2241+381delinsGC (n.2241+380_2241+381delinsGC)
c.2205+380_2205+381delinsGC (n.2205+380_2205+381delinsGC)
c.2543_2544delinsGC (p.Gly848=)
c.2133+380_2133+381delinsGC (n.2133+380_2133+381delinsGC)
c.1680-5823_1680-5822delinsGC (n.1680-5823_1680-5822delinsGC)
c.2639_2640delinsGC (p.Gly880=)
c.2705_2706delinsGC (p.Gly902=)
c.2702_2703delinsGC (p.Gly901=)
c.2675_2676delinsGC (p.Gly892=)
c.2621_2622delinsGC (p.Gly874=)
c.2594_2595delinsGC (p.Gly865=)
c.2579_2580delinsGC (p.Gly860=)
c.2186_2187delinsGC (p.Gly729=)
c.2648_2649delinsGC (p.Gly883=)
c.2585_2586delinsGC (p.Gly862=)
c.2582_2583delinsGC (p.Gly861=)
c.2540_2541delinsGC (p.Gly847=)
c.1613_1614delinsGC (p.Gly538=)
20g.63406666C>ACA409636395KCNQ2c.2651G>T (p.Gly884Val)
c.2597G>T (p.Gly866Val)
c.1994G>T (p.Gly665Val)
c.2504G>T (p.Gly835Val)
c.2165G>T (p.Gly722Val)
c.2513G>T (p.Gly838Val)
c.2241+380G>T (n.2241+380G>T)
c.2205+380G>T (n.2205+380G>T)
c.2543G>T (p.Gly848Val)
c.2133+380G>T (n.2133+380G>T)
c.1680-5823G>T (n.1680-5823G>T)
c.2639G>T (p.Gly880Val)
c.2705G>T (p.Gly902Val)
c.2702G>T (p.Gly901Val)
c.2675G>T (p.Gly892Val)
c.2621G>T (p.Gly874Val)
c.2594G>T (p.Gly865Val)
c.2579G>T (p.Gly860Val)
c.2186G>T (p.Gly729Val)
c.2648G>T (p.Gly883Val)
c.2585G>T (p.Gly862Val)
c.2582G>T (p.Gly861Val)
c.2540G>T (p.Gly847Val)
c.1613G>T (p.Gly538Val)
 gnomAD v4
20g.63406666C>GCA409636396KCNQ2c.2651G>C (p.Gly884Ala)
c.2597G>C (p.Gly866Ala)
c.1994G>C (p.Gly665Ala)
c.2504G>C (p.Gly835Ala)
c.2165G>C (p.Gly722Ala)
c.2513G>C (p.Gly838Ala)
c.2241+380G>C (n.2241+380G>C)
c.2205+380G>C (n.2205+380G>C)
c.2543G>C (p.Gly848Ala)
c.2133+380G>C (n.2133+380G>C)
c.1680-5823G>C (n.1680-5823G>C)
c.2639G>C (p.Gly880Ala)
c.2705G>C (p.Gly902Ala)
c.2702G>C (p.Gly901Ala)
c.2675G>C (p.Gly892Ala)
c.2621G>C (p.Gly874Ala)
c.2594G>C (p.Gly865Ala)
c.2579G>C (p.Gly860Ala)
c.2186G>C (p.Gly729Ala)
c.2648G>C (p.Gly883Ala)
c.2585G>C (p.Gly862Ala)
c.2582G>C (p.Gly861Ala)
c.2540G>C (p.Gly847Ala)
c.1613G>C (p.Gly538Ala)
20g.63406666C>TCA409636398KCNQ2c.2651G>A (p.Gly884Asp)
c.2597G>A (p.Gly866Asp)
c.1994G>A (p.Gly665Asp)
c.2504G>A (p.Gly835Asp)
c.2165G>A (p.Gly722Asp)
c.2513G>A (p.Gly838Asp)
c.2241+380G>A (n.2241+380G>A)
c.2205+380G>A (n.2205+380G>A)
c.2543G>A (p.Gly848Asp)
c.2133+380G>A (n.2133+380G>A)
c.1680-5823G>A (n.1680-5823G>A)
c.2639G>A (p.Gly880Asp)
c.2705G>A (p.Gly902Asp)
c.2702G>A (p.Gly901Asp)
c.2675G>A (p.Gly892Asp)
c.2621G>A (p.Gly874Asp)
c.2594G>A (p.Gly865Asp)
c.2579G>A (p.Gly860Asp)
c.2186G>A (p.Gly729Asp)
c.2648G>A (p.Gly883Asp)
c.2585G>A (p.Gly862Asp)
c.2582G>A (p.Gly861Asp)
c.2540G>A (p.Gly847Asp)
c.1613G>A (p.Gly538Asp)
 gnomAD v4
20g.63406668delCA342495KCNQ2c.2651del (p.Gly884AlafsTer?)
c.2597del (p.Gly866AlafsTer?)
c.1994del (p.Gly665AlafsTer?)
c.2504del (p.Gly835AlafsTer?)
c.2165del (p.Gly722AlafsTer?)
c.2513del (p.Gly838AlafsTer?)
c.2241+380del (n.2241+380del)
c.2205+380del (n.2205+380del)
c.2543del (p.Gly848AlafsTer?)
c.2133+380del (n.2133+380del)
c.1680-5823del (n.1680-5823del)
c.2639del (p.Gly880AlafsTer?)
c.2705del (p.Gly902AlafsTer?)
c.2702del (p.Gly901AlafsTer?)
c.2675del (p.Gly892AlafsTer?)
c.2621del (p.Gly874AlafsTer?)
c.2594del (p.Gly865AlafsTer?)
c.2579del (p.Gly860AlafsTer?)
c.2186del (p.Gly729AlafsTer?)
c.2648del (p.Gly883AlafsTer?)
c.2585del (p.Gly862AlafsTer?)
c.2582del (p.Gly861AlafsTer?)
c.2540del (p.Gly847AlafsTer?)
c.1613del (p.Gly538AlafsTer?)
 ClinVar dbSNP
20g.63406667C>ACA409636401KCNQ2c.2650G>T (p.Gly884Cys)
c.2596G>T (p.Gly866Cys)
c.1993G>T (p.Gly665Cys)
c.2503G>T (p.Gly835Cys)
c.2164G>T (p.Gly722Cys)
c.2512G>T (p.Gly838Cys)
c.2241+379G>T (n.2241+379G>T)
c.2205+379G>T (n.2205+379G>T)
c.2542G>T (p.Gly848Cys)
c.2133+379G>T (n.2133+379G>T)
c.1680-5824G>T (n.1680-5824G>T)
c.2638G>T (p.Gly880Cys)
c.2704G>T (p.Gly902Cys)
c.2701G>T (p.Gly901Cys)
c.2674G>T (p.Gly892Cys)
c.2620G>T (p.Gly874Cys)
c.2593G>T (p.Gly865Cys)
c.2578G>T (p.Gly860Cys)
c.2185G>T (p.Gly729Cys)
c.2647G>T (p.Gly883Cys)
c.2584G>T (p.Gly862Cys)
c.2581G>T (p.Gly861Cys)
c.2539G>T (p.Gly847Cys)
c.1612G>T (p.Gly538Cys)
 gnomAD v4
20g.63406667C>GCA409636403KCNQ2c.2650G>C (p.Gly884Arg)
c.2596G>C (p.Gly866Arg)
c.1993G>C (p.Gly665Arg)
c.2503G>C (p.Gly835Arg)
c.2164G>C (p.Gly722Arg)
c.2512G>C (p.Gly838Arg)
c.2241+379G>C (n.2241+379G>C)
c.2205+379G>C (n.2205+379G>C)
c.2542G>C (p.Gly848Arg)
c.2133+379G>C (n.2133+379G>C)
c.1680-5824G>C (n.1680-5824G>C)
c.2638G>C (p.Gly880Arg)
c.2704G>C (p.Gly902Arg)
c.2701G>C (p.Gly901Arg)
c.2674G>C (p.Gly892Arg)
c.2620G>C (p.Gly874Arg)
c.2593G>C (p.Gly865Arg)
c.2578G>C (p.Gly860Arg)
c.2185G>C (p.Gly729Arg)
c.2647G>C (p.Gly883Arg)
c.2584G>C (p.Gly862Arg)
c.2581G>C (p.Gly861Arg)
c.2539G>C (p.Gly847Arg)
c.1612G>C (p.Gly538Arg)
20g.63406667C>TCA409636405KCNQ2c.2650G>A (p.Gly884Ser)
c.2596G>A (p.Gly866Ser)
c.1993G>A (p.Gly665Ser)
c.2503G>A (p.Gly835Ser)
c.2164G>A (p.Gly722Ser)
c.2512G>A (p.Gly838Ser)
c.2241+379G>A (n.2241+379G>A)
c.2205+379G>A (n.2205+379G>A)
c.2542G>A (p.Gly848Ser)
c.2133+379G>A (n.2133+379G>A)
c.1680-5824G>A (n.1680-5824G>A)
c.2638G>A (p.Gly880Ser)
c.2704G>A (p.Gly902Ser)
c.2701G>A (p.Gly901Ser)
c.2674G>A (p.Gly892Ser)
c.2620G>A (p.Gly874Ser)
c.2593G>A (p.Gly865Ser)
c.2578G>A (p.Gly860Ser)
c.2185G>A (p.Gly729Ser)
c.2647G>A (p.Gly883Ser)
c.2584G>A (p.Gly862Ser)
c.2581G>A (p.Gly861Ser)
c.2539G>A (p.Gly847Ser)
c.1612G>A (p.Gly538Ser)
 gnomAD v4
20g.63406668C>ACA511339178KCNQ2c.2649G>T (p.Val883=)
c.2595G>T (p.Val865=)
c.1992G>T (p.Val664=)
c.2502G>T (p.Val834=)
c.2163G>T (p.Val721=)
c.2511G>T (p.Val837=)
c.2241+378G>T (n.2241+378G>T)
c.2205+378G>T (n.2205+378G>T)
c.2541G>T (p.Val847=)
c.2133+378G>T (n.2133+378G>T)
c.1680-5825G>T (n.1680-5825G>T)
c.2637G>T (p.Val879=)
c.2703G>T (p.Val901=)
c.2700G>T (p.Val900=)
c.2673G>T (p.Val891=)
c.2619G>T (p.Val873=)
c.2592G>T (p.Val864=)
c.2577G>T (p.Val859=)
c.2184G>T (p.Val728=)
c.2646G>T (p.Val882=)
c.2583G>T (p.Val861=)
c.2580G>T (p.Val860=)
c.2538G>T (p.Val846=)
c.1611G>T (p.Val537=)
 gnomAD v4
20g.63406668C>GCA511339179KCNQ2c.2649G>C (p.Val883=)
c.2595G>C (p.Val865=)
c.1992G>C (p.Val664=)
c.2502G>C (p.Val834=)
c.2163G>C (p.Val721=)
c.2511G>C (p.Val837=)
c.2241+378G>C (n.2241+378G>C)
c.2205+378G>C (n.2205+378G>C)
c.2541G>C (p.Val847=)
c.2133+378G>C (n.2133+378G>C)
c.1680-5825G>C (n.1680-5825G>C)
c.2637G>C (p.Val879=)
c.2703G>C (p.Val901=)
c.2700G>C (p.Val900=)
c.2673G>C (p.Val891=)
c.2619G>C (p.Val873=)
c.2592G>C (p.Val864=)
c.2577G>C (p.Val859=)
c.2184G>C (p.Val728=)
c.2646G>C (p.Val882=)
c.2583G>C (p.Val861=)
c.2580G>C (p.Val860=)
c.2538G>C (p.Val846=)
c.1611G>C (p.Val537=)
20g.63406668C>TCA511339180KCNQ2c.2649G>A (p.Val883=)
c.2595G>A (p.Val865=)
c.1992G>A (p.Val664=)
c.2502G>A (p.Val834=)
c.2163G>A (p.Val721=)
c.2511G>A (p.Val837=)
c.2241+378G>A (n.2241+378G>A)
c.2205+378G>A (n.2205+378G>A)
c.2541G>A (p.Val847=)
c.2133+378G>A (n.2133+378G>A)
c.1680-5825G>A (n.1680-5825G>A)
c.2637G>A (p.Val879=)
c.2703G>A (p.Val901=)
c.2700G>A (p.Val900=)
c.2673G>A (p.Val891=)
c.2619G>A (p.Val873=)
c.2592G>A (p.Val864=)
c.2577G>A (p.Val859=)
c.2184G>A (p.Val728=)
c.2646G>A (p.Val882=)
c.2583G>A (p.Val861=)
c.2580G>A (p.Val860=)
c.2538G>A (p.Val846=)
c.1611G>A (p.Val537=)
20g.63406669A=CA2374774184KCNQ2c.2648T= (p.Val883=)
c.2594T= (p.Val865=)
c.1991T= (p.Val664=)
c.2501T= (p.Val834=)
c.2162T= (p.Val721=)
c.2510T= (p.Val837=)
c.2241+377T= (n.2241+377T=)
c.2205+377T= (n.2205+377T=)
c.2540T= (p.Val847=)
c.2133+377T= (n.2133+377T=)
c.1680-5826T= (n.1680-5826T=)
c.2636T= (p.Val879=)
c.2702T= (p.Val901=)
c.2699T= (p.Val900=)
c.2672T= (p.Val891=)
c.2618T= (p.Val873=)
c.2591T= (p.Val864=)
c.2576T= (p.Val859=)
c.2183T= (p.Val728=)
c.2645T= (p.Val882=)
c.2582T= (p.Val861=)
c.2579T= (p.Val860=)
c.2537T= (p.Val846=)
c.1610T= (p.Val537=)
20g.63406669A>CCA9958053KCNQ2c.2648T>G (p.Val883Gly)
c.2594T>G (p.Val865Gly)
c.1991T>G (p.Val664Gly)
c.2501T>G (p.Val834Gly)
c.2162T>G (p.Val721Gly)
c.2510T>G (p.Val837Gly)
c.2241+377T>G (n.2241+377T>G)
c.2205+377T>G (n.2205+377T>G)
c.2540T>G (p.Val847Gly)
c.2133+377T>G (n.2133+377T>G)
c.1680-5826T>G (n.1680-5826T>G)
c.2636T>G (p.Val879Gly)
c.2702T>G (p.Val901Gly)
c.2699T>G (p.Val900Gly)
c.2672T>G (p.Val891Gly)
c.2618T>G (p.Val873Gly)
c.2591T>G (p.Val864Gly)
c.2576T>G (p.Val859Gly)
c.2183T>G (p.Val728Gly)
c.2645T>G (p.Val882Gly)
c.2582T>G (p.Val861Gly)
c.2579T>G (p.Val860Gly)
c.2537T>G (p.Val846Gly)
c.1610T>G (p.Val537Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406669A>GCA409636407KCNQ2c.2648T>C (p.Val883Ala)
c.2594T>C (p.Val865Ala)
c.1991T>C (p.Val664Ala)
c.2501T>C (p.Val834Ala)
c.2162T>C (p.Val721Ala)
c.2510T>C (p.Val837Ala)
c.2241+377T>C (n.2241+377T>C)
c.2205+377T>C (n.2205+377T>C)
c.2540T>C (p.Val847Ala)
c.2133+377T>C (n.2133+377T>C)
c.1680-5826T>C (n.1680-5826T>C)
c.2636T>C (p.Val879Ala)
c.2702T>C (p.Val901Ala)
c.2699T>C (p.Val900Ala)
c.2672T>C (p.Val891Ala)
c.2618T>C (p.Val873Ala)
c.2591T>C (p.Val864Ala)
c.2576T>C (p.Val859Ala)
c.2183T>C (p.Val728Ala)
c.2645T>C (p.Val882Ala)
c.2582T>C (p.Val861Ala)
c.2579T>C (p.Val860Ala)
c.2537T>C (p.Val846Ala)
c.1610T>C (p.Val537Ala)
20g.63406669A>TCA409636408KCNQ2c.2648T>A (p.Val883Glu)
c.2594T>A (p.Val865Glu)
c.1991T>A (p.Val664Glu)
c.2501T>A (p.Val834Glu)
c.2162T>A (p.Val721Glu)
c.2510T>A (p.Val837Glu)
c.2241+377T>A (n.2241+377T>A)
c.2205+377T>A (n.2205+377T>A)
c.2540T>A (p.Val847Glu)
c.2133+377T>A (n.2133+377T>A)
c.1680-5826T>A (n.1680-5826T>A)
c.2636T>A (p.Val879Glu)
c.2702T>A (p.Val901Glu)
c.2699T>A (p.Val900Glu)
c.2672T>A (p.Val891Glu)
c.2618T>A (p.Val873Glu)
c.2591T>A (p.Val864Glu)
c.2576T>A (p.Val859Glu)
c.2183T>A (p.Val728Glu)
c.2645T>A (p.Val882Glu)
c.2582T>A (p.Val861Glu)
c.2579T>A (p.Val860Glu)
c.2537T>A (p.Val846Glu)
c.1610T>A (p.Val537Glu)
20g.63406670C>ACA409636413KCNQ2c.2647G>T (p.Val883Leu)
c.2593G>T (p.Val865Leu)
c.1990G>T (p.Val664Leu)
c.2500G>T (p.Val834Leu)
c.2161G>T (p.Val721Leu)
c.2509G>T (p.Val837Leu)
c.2241+376G>T (n.2241+376G>T)
c.2205+376G>T (n.2205+376G>T)
c.2539G>T (p.Val847Leu)
c.2133+376G>T (n.2133+376G>T)
c.1680-5827G>T (n.1680-5827G>T)
c.2635G>T (p.Val879Leu)
c.2701G>T (p.Val901Leu)
c.2698G>T (p.Val900Leu)
c.2671G>T (p.Val891Leu)
c.2617G>T (p.Val873Leu)
c.2590G>T (p.Val864Leu)
c.2575G>T (p.Val859Leu)
c.2182G>T (p.Val728Leu)
c.2644G>T (p.Val882Leu)
c.2581G>T (p.Val861Leu)
c.2578G>T (p.Val860Leu)
c.2536G>T (p.Val846Leu)
c.1609G>T (p.Val537Leu)
20g.63406670C=CA2374774185KCNQ2c.2647G= (p.Val883=)
c.2593G= (p.Val865=)
c.1990G= (p.Val664=)
c.2500G= (p.Val834=)
c.2161G= (p.Val721=)
c.2509G= (p.Val837=)
c.2241+376G= (n.2241+376G=)
c.2205+376G= (n.2205+376G=)
c.2539G= (p.Val847=)
c.2133+376G= (n.2133+376G=)
c.1680-5827G= (n.1680-5827G=)
c.2635G= (p.Val879=)
c.2701G= (p.Val901=)
c.2698G= (p.Val900=)
c.2671G= (p.Val891=)
c.2617G= (p.Val873=)
c.2590G= (p.Val864=)
c.2575G= (p.Val859=)
c.2182G= (p.Val728=)
c.2644G= (p.Val882=)
c.2581G= (p.Val861=)
c.2578G= (p.Val860=)
c.2536G= (p.Val846=)
c.1609G= (p.Val537=)
20g.63406670C>GCA409636410KCNQ2c.2647G>C (p.Val883Leu)
c.2593G>C (p.Val865Leu)
c.1990G>C (p.Val664Leu)
c.2500G>C (p.Val834Leu)
c.2161G>C (p.Val721Leu)
c.2509G>C (p.Val837Leu)
c.2241+376G>C (n.2241+376G>C)
c.2205+376G>C (n.2205+376G>C)
c.2539G>C (p.Val847Leu)
c.2133+376G>C (n.2133+376G>C)
c.1680-5827G>C (n.1680-5827G>C)
c.2635G>C (p.Val879Leu)
c.2701G>C (p.Val901Leu)
c.2698G>C (p.Val900Leu)
c.2671G>C (p.Val891Leu)
c.2617G>C (p.Val873Leu)
c.2590G>C (p.Val864Leu)
c.2575G>C (p.Val859Leu)
c.2182G>C (p.Val728Leu)
c.2644G>C (p.Val882Leu)
c.2581G>C (p.Val861Leu)
c.2578G>C (p.Val860Leu)
c.2536G>C (p.Val846Leu)
c.1609G>C (p.Val537Leu)
 dbSNP gnomAD v4
20g.63406670C>TCA317421518KCNQ2c.2647G>A (p.Val883Met)
c.2593G>A (p.Val865Met)
c.1990G>A (p.Val664Met)
c.2500G>A (p.Val834Met)
c.2161G>A (p.Val721Met)
c.2509G>A (p.Val837Met)
c.2241+376G>A (n.2241+376G>A)
c.2205+376G>A (n.2205+376G>A)
c.2539G>A (p.Val847Met)
c.2133+376G>A (n.2133+376G>A)
c.1680-5827G>A (n.1680-5827G>A)
c.2635G>A (p.Val879Met)
c.2701G>A (p.Val901Met)
c.2698G>A (p.Val900Met)
c.2671G>A (p.Val891Met)
c.2617G>A (p.Val873Met)
c.2590G>A (p.Val864Met)
c.2575G>A (p.Val859Met)
c.2182G>A (p.Val728Met)
c.2644G>A (p.Val882Met)
c.2581G>A (p.Val861Met)
c.2578G>A (p.Val860Met)
c.2536G>A (p.Val846Met)
c.1609G>A (p.Val537Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406671G>ACA9958054KCNQ2c.2646C>T (p.Asp882=)
c.2592C>T (p.Asp864=)
c.1989C>T (p.Asp663=)
c.2499C>T (p.Asp833=)
c.2160C>T (p.Asp720=)
c.2508C>T (p.Asp836=)
c.2241+375C>T (n.2241+375C>T)
c.2205+375C>T (n.2205+375C>T)
c.2538C>T (p.Asp846=)
c.2133+375C>T (n.2133+375C>T)
c.1680-5828C>T (n.1680-5828C>T)
c.2634C>T (p.Asp878=)
c.2700C>T (p.Asp900=)
c.2697C>T (p.Asp899=)
c.2670C>T (p.Asp890=)
c.2616C>T (p.Asp872=)
c.2589C>T (p.Asp863=)
c.2574C>T (p.Asp858=)
c.2181C>T (p.Asp727=)
c.2643C>T (p.Asp881=)
c.2580C>T (p.Asp860=)
c.2577C>T (p.Asp859=)
c.2535C>T (p.Asp845=)
c.1608C>T (p.Asp536=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406671G>CCA409636417KCNQ2c.2646C>G (p.Asp882Glu)
c.2592C>G (p.Asp864Glu)
c.1989C>G (p.Asp663Glu)
c.2499C>G (p.Asp833Glu)
c.2160C>G (p.Asp720Glu)
c.2508C>G (p.Asp836Glu)
c.2241+375C>G (n.2241+375C>G)
c.2205+375C>G (n.2205+375C>G)
c.2538C>G (p.Asp846Glu)
c.2133+375C>G (n.2133+375C>G)
c.1680-5828C>G (n.1680-5828C>G)
c.2634C>G (p.Asp878Glu)
c.2700C>G (p.Asp900Glu)
c.2697C>G (p.Asp899Glu)
c.2670C>G (p.Asp890Glu)
c.2616C>G (p.Asp872Glu)
c.2589C>G (p.Asp863Glu)
c.2574C>G (p.Asp858Glu)
c.2181C>G (p.Asp727Glu)
c.2643C>G (p.Asp881Glu)
c.2580C>G (p.Asp860Glu)
c.2577C>G (p.Asp859Glu)
c.2535C>G (p.Asp845Glu)
c.1608C>G (p.Asp536Glu)
20g.63406671G=CA2374774186KCNQ2c.2646C= (p.Asp882=)
c.2592C= (p.Asp864=)
c.1989C= (p.Asp663=)
c.2499C= (p.Asp833=)
c.2160C= (p.Asp720=)
c.2508C= (p.Asp836=)
c.2241+375C= (n.2241+375C=)
c.2205+375C= (n.2205+375C=)
c.2538C= (p.Asp846=)
c.2133+375C= (n.2133+375C=)
c.1680-5828C= (n.1680-5828C=)
c.2634C= (p.Asp878=)
c.2700C= (p.Asp900=)
c.2697C= (p.Asp899=)
c.2670C= (p.Asp890=)
c.2616C= (p.Asp872=)
c.2589C= (p.Asp863=)
c.2574C= (p.Asp858=)
c.2181C= (p.Asp727=)
c.2643C= (p.Asp881=)
c.2580C= (p.Asp860=)
c.2577C= (p.Asp859=)
c.2535C= (p.Asp845=)
c.1608C= (p.Asp536=)
20g.63406671G>TCA409636415KCNQ2c.2646C>A (p.Asp882Glu)
c.2592C>A (p.Asp864Glu)
c.1989C>A (p.Asp663Glu)
c.2499C>A (p.Asp833Glu)
c.2160C>A (p.Asp720Glu)
c.2508C>A (p.Asp836Glu)
c.2241+375C>A (n.2241+375C>A)
c.2205+375C>A (n.2205+375C>A)
c.2538C>A (p.Asp846Glu)
c.2133+375C>A (n.2133+375C>A)
c.1680-5828C>A (n.1680-5828C>A)
c.2634C>A (p.Asp878Glu)
c.2700C>A (p.Asp900Glu)
c.2697C>A (p.Asp899Glu)
c.2670C>A (p.Asp890Glu)
c.2616C>A (p.Asp872Glu)
c.2589C>A (p.Asp863Glu)
c.2574C>A (p.Asp858Glu)
c.2181C>A (p.Asp727Glu)
c.2643C>A (p.Asp881Glu)
c.2580C>A (p.Asp860Glu)
c.2577C>A (p.Asp859Glu)
c.2535C>A (p.Asp845Glu)
c.1608C>A (p.Asp536Glu)
 gnomAD v4
20g.63406672T>ACA409636419KCNQ2c.2645A>T (p.Asp882Val)
c.2591A>T (p.Asp864Val)
c.1988A>T (p.Asp663Val)
c.2498A>T (p.Asp833Val)
c.2159A>T (p.Asp720Val)
c.2507A>T (p.Asp836Val)
c.2241+374A>T (n.2241+374A>T)
c.2205+374A>T (n.2205+374A>T)
c.2537A>T (p.Asp846Val)
c.2133+374A>T (n.2133+374A>T)
c.1680-5829A>T (n.1680-5829A>T)
c.2633A>T (p.Asp878Val)
c.2699A>T (p.Asp900Val)
c.2696A>T (p.Asp899Val)
c.2669A>T (p.Asp890Val)
c.2615A>T (p.Asp872Val)
c.2588A>T (p.Asp863Val)
c.2573A>T (p.Asp858Val)
c.2180A>T (p.Asp727Val)
c.2642A>T (p.Asp881Val)
c.2579A>T (p.Asp860Val)
c.2576A>T (p.Asp859Val)
c.2534A>T (p.Asp845Val)
c.1607A>T (p.Asp536Val)
20g.63406672T>CCA409636421KCNQ2c.2645A>G (p.Asp882Gly)
c.2591A>G (p.Asp864Gly)
c.1988A>G (p.Asp663Gly)
c.2498A>G (p.Asp833Gly)
c.2159A>G (p.Asp720Gly)
c.2507A>G (p.Asp836Gly)
c.2241+374A>G (n.2241+374A>G)
c.2205+374A>G (n.2205+374A>G)
c.2537A>G (p.Asp846Gly)
c.2133+374A>G (n.2133+374A>G)
c.1680-5829A>G (n.1680-5829A>G)
c.2633A>G (p.Asp878Gly)
c.2699A>G (p.Asp900Gly)
c.2696A>G (p.Asp899Gly)
c.2669A>G (p.Asp890Gly)
c.2615A>G (p.Asp872Gly)
c.2588A>G (p.Asp863Gly)
c.2573A>G (p.Asp858Gly)
c.2180A>G (p.Asp727Gly)
c.2642A>G (p.Asp881Gly)
c.2579A>G (p.Asp860Gly)
c.2576A>G (p.Asp859Gly)
c.2534A>G (p.Asp845Gly)
c.1607A>G (p.Asp536Gly)
20g.63406672T>GCA409636423KCNQ2c.2645A>C (p.Asp882Ala)
c.2591A>C (p.Asp864Ala)
c.1988A>C (p.Asp663Ala)
c.2498A>C (p.Asp833Ala)
c.2159A>C (p.Asp720Ala)
c.2507A>C (p.Asp836Ala)
c.2241+374A>C (n.2241+374A>C)
c.2205+374A>C (n.2205+374A>C)
c.2537A>C (p.Asp846Ala)
c.2133+374A>C (n.2133+374A>C)
c.1680-5829A>C (n.1680-5829A>C)
c.2633A>C (p.Asp878Ala)
c.2699A>C (p.Asp900Ala)
c.2696A>C (p.Asp899Ala)
c.2669A>C (p.Asp890Ala)
c.2615A>C (p.Asp872Ala)
c.2588A>C (p.Asp863Ala)
c.2573A>C (p.Asp858Ala)
c.2180A>C (p.Asp727Ala)
c.2642A>C (p.Asp881Ala)
c.2579A>C (p.Asp860Ala)
c.2576A>C (p.Asp859Ala)
c.2534A>C (p.Asp845Ala)
c.1607A>C (p.Asp536Ala)
20g.63406673C>ACA409636425KCNQ2c.2644G>T (p.Asp882Tyr)
c.2590G>T (p.Asp864Tyr)
c.1987G>T (p.Asp663Tyr)
c.2497G>T (p.Asp833Tyr)
c.2158G>T (p.Asp720Tyr)
c.2506G>T (p.Asp836Tyr)
c.2241+373G>T (n.2241+373G>T)
c.2205+373G>T (n.2205+373G>T)
c.2536G>T (p.Asp846Tyr)
c.2133+373G>T (n.2133+373G>T)
c.1680-5830G>T (n.1680-5830G>T)
c.2632G>T (p.Asp878Tyr)
c.2698G>T (p.Asp900Tyr)
c.2695G>T (p.Asp899Tyr)
c.2668G>T (p.Asp890Tyr)
c.2614G>T (p.Asp872Tyr)
c.2587G>T (p.Asp863Tyr)
c.2572G>T (p.Asp858Tyr)
c.2179G>T (p.Asp727Tyr)
c.2641G>T (p.Asp881Tyr)
c.2578G>T (p.Asp860Tyr)
c.2575G>T (p.Asp859Tyr)
c.2533G>T (p.Asp845Tyr)
c.1606G>T (p.Asp536Tyr)
 gnomAD v4
20g.63406673C>GCA409636426KCNQ2c.2644G>C (p.Asp882His)
c.2590G>C (p.Asp864His)
c.1987G>C (p.Asp663His)
c.2497G>C (p.Asp833His)
c.2158G>C (p.Asp720His)
c.2506G>C (p.Asp836His)
c.2241+373G>C (n.2241+373G>C)
c.2205+373G>C (n.2205+373G>C)
c.2536G>C (p.Asp846His)
c.2133+373G>C (n.2133+373G>C)
c.1680-5830G>C (n.1680-5830G>C)
c.2632G>C (p.Asp878His)
c.2698G>C (p.Asp900His)
c.2695G>C (p.Asp899His)
c.2668G>C (p.Asp890His)
c.2614G>C (p.Asp872His)
c.2587G>C (p.Asp863His)
c.2572G>C (p.Asp858His)
c.2179G>C (p.Asp727His)
c.2641G>C (p.Asp881His)
c.2578G>C (p.Asp860His)
c.2575G>C (p.Asp859His)
c.2533G>C (p.Asp845His)
c.1606G>C (p.Asp536His)
20g.63406673C>TCA409636428KCNQ2c.2644G>A (p.Asp882Asn)
c.2590G>A (p.Asp864Asn)
c.1987G>A (p.Asp663Asn)
c.2497G>A (p.Asp833Asn)
c.2158G>A (p.Asp720Asn)
c.2506G>A (p.Asp836Asn)
c.2241+373G>A (n.2241+373G>A)
c.2205+373G>A (n.2205+373G>A)
c.2536G>A (p.Asp846Asn)
c.2133+373G>A (n.2133+373G>A)
c.1680-5830G>A (n.1680-5830G>A)
c.2632G>A (p.Asp878Asn)
c.2698G>A (p.Asp900Asn)
c.2695G>A (p.Asp899Asn)
c.2668G>A (p.Asp890Asn)
c.2614G>A (p.Asp872Asn)
c.2587G>A (p.Asp863Asn)
c.2572G>A (p.Asp858Asn)
c.2179G>A (p.Asp727Asn)
c.2641G>A (p.Asp881Asn)
c.2578G>A (p.Asp860Asn)
c.2575G>A (p.Asp859Asn)
c.2533G>A (p.Asp845Asn)
c.1606G>A (p.Asp536Asn)
20g.63406674A>CCA511339181KCNQ2c.2643T>G (p.Gly881=)
c.2589T>G (p.Gly863=)
c.1986T>G (p.Gly662=)
c.2496T>G (p.Gly832=)
c.2157T>G (p.Gly719=)
c.2505T>G (p.Gly835=)
c.2241+372T>G (n.2241+372T>G)
c.2205+372T>G (n.2205+372T>G)
c.2535T>G (p.Gly845=)
c.2133+372T>G (n.2133+372T>G)
c.1680-5831T>G (n.1680-5831T>G)
c.2631T>G (p.Gly877=)
c.2697T>G (p.Gly899=)
c.2694T>G (p.Gly898=)
c.2667T>G (p.Gly889=)
c.2613T>G (p.Gly871=)
c.2586T>G (p.Gly862=)
c.2571T>G (p.Gly857=)
c.2178T>G (p.Gly726=)
c.2640T>G (p.Gly880=)
c.2577T>G (p.Gly859=)
c.2574T>G (p.Gly858=)
c.2532T>G (p.Gly844=)
c.1605T>G (p.Gly535=)
20g.63406674A>GCA511339182KCNQ2c.2643T>C (p.Gly881=)
c.2589T>C (p.Gly863=)
c.1986T>C (p.Gly662=)
c.2496T>C (p.Gly832=)
c.2157T>C (p.Gly719=)
c.2505T>C (p.Gly835=)
c.2241+372T>C (n.2241+372T>C)
c.2205+372T>C (n.2205+372T>C)
c.2535T>C (p.Gly845=)
c.2133+372T>C (n.2133+372T>C)
c.1680-5831T>C (n.1680-5831T>C)
c.2631T>C (p.Gly877=)
c.2697T>C (p.Gly899=)
c.2694T>C (p.Gly898=)
c.2667T>C (p.Gly889=)
c.2613T>C (p.Gly871=)
c.2586T>C (p.Gly862=)
c.2571T>C (p.Gly857=)
c.2178T>C (p.Gly726=)
c.2640T>C (p.Gly880=)
c.2577T>C (p.Gly859=)
c.2574T>C (p.Gly858=)
c.2532T>C (p.Gly844=)
c.1605T>C (p.Gly535=)
20g.63406674A>TCA511339183KCNQ2c.2643T>A (p.Gly881=)
c.2589T>A (p.Gly863=)
c.1986T>A (p.Gly662=)
c.2496T>A (p.Gly832=)
c.2157T>A (p.Gly719=)
c.2505T>A (p.Gly835=)
c.2241+372T>A (n.2241+372T>A)
c.2205+372T>A (n.2205+372T>A)
c.2535T>A (p.Gly845=)
c.2133+372T>A (n.2133+372T>A)
c.1680-5831T>A (n.1680-5831T>A)
c.2631T>A (p.Gly877=)
c.2697T>A (p.Gly899=)
c.2694T>A (p.Gly898=)
c.2667T>A (p.Gly889=)
c.2613T>A (p.Gly871=)
c.2586T>A (p.Gly862=)
c.2571T>A (p.Gly857=)
c.2178T>A (p.Gly726=)
c.2640T>A (p.Gly880=)
c.2577T>A (p.Gly859=)
c.2574T>A (p.Gly858=)
c.2532T>A (p.Gly844=)
c.1605T>A (p.Gly535=)
20g.63406675C>ACA409636430KCNQ2c.2642G>T (p.Gly881Val)
c.2588G>T (p.Gly863Val)
c.1985G>T (p.Gly662Val)
c.2495G>T (p.Gly832Val)
c.2156G>T (p.Gly719Val)
c.2504G>T (p.Gly835Val)
c.2241+371G>T (n.2241+371G>T)
c.2205+371G>T (n.2205+371G>T)
c.2534G>T (p.Gly845Val)
c.2133+371G>T (n.2133+371G>T)
c.1680-5832G>T (n.1680-5832G>T)
c.2630G>T (p.Gly877Val)
c.2696G>T (p.Gly899Val)
c.2693G>T (p.Gly898Val)
c.2666G>T (p.Gly889Val)
c.2612G>T (p.Gly871Val)
c.2585G>T (p.Gly862Val)
c.2570G>T (p.Gly857Val)
c.2177G>T (p.Gly726Val)
c.2639G>T (p.Gly880Val)
c.2576G>T (p.Gly859Val)
c.2573G>T (p.Gly858Val)
c.2531G>T (p.Gly844Val)
c.1604G>T (p.Gly535Val)
20g.63406675C>GCA409636432KCNQ2c.2642G>C (p.Gly881Ala)
c.2588G>C (p.Gly863Ala)
c.1985G>C (p.Gly662Ala)
c.2495G>C (p.Gly832Ala)
c.2156G>C (p.Gly719Ala)
c.2504G>C (p.Gly835Ala)
c.2241+371G>C (n.2241+371G>C)
c.2205+371G>C (n.2205+371G>C)
c.2534G>C (p.Gly845Ala)
c.2133+371G>C (n.2133+371G>C)
c.1680-5832G>C (n.1680-5832G>C)
c.2630G>C (p.Gly877Ala)
c.2696G>C (p.Gly899Ala)
c.2693G>C (p.Gly898Ala)
c.2666G>C (p.Gly889Ala)
c.2612G>C (p.Gly871Ala)
c.2585G>C (p.Gly862Ala)
c.2570G>C (p.Gly857Ala)
c.2177G>C (p.Gly726Ala)
c.2639G>C (p.Gly880Ala)
c.2576G>C (p.Gly859Ala)
c.2573G>C (p.Gly858Ala)
c.2531G>C (p.Gly844Ala)
c.1604G>C (p.Gly535Ala)
20g.63406675C>TCA409636434KCNQ2c.2642G>A (p.Gly881Asp)
c.2588G>A (p.Gly863Asp)
c.1985G>A (p.Gly662Asp)
c.2495G>A (p.Gly832Asp)
c.2156G>A (p.Gly719Asp)
c.2504G>A (p.Gly835Asp)
c.2241+371G>A (n.2241+371G>A)
c.2205+371G>A (n.2205+371G>A)
c.2534G>A (p.Gly845Asp)
c.2133+371G>A (n.2133+371G>A)
c.1680-5832G>A (n.1680-5832G>A)
c.2630G>A (p.Gly877Asp)
c.2696G>A (p.Gly899Asp)
c.2693G>A (p.Gly898Asp)
c.2666G>A (p.Gly889Asp)
c.2612G>A (p.Gly871Asp)
c.2585G>A (p.Gly862Asp)
c.2570G>A (p.Gly857Asp)
c.2177G>A (p.Gly726Asp)
c.2639G>A (p.Gly880Asp)
c.2576G>A (p.Gly859Asp)
c.2573G>A (p.Gly858Asp)
c.2531G>A (p.Gly844Asp)
c.1604G>A (p.Gly535Asp)
20g.63406676C>ACA409636436KCNQ2c.2641G>T (p.Gly881Cys)
c.2587G>T (p.Gly863Cys)
c.1984G>T (p.Gly662Cys)
c.2494G>T (p.Gly832Cys)
c.2155G>T (p.Gly719Cys)
c.2503G>T (p.Gly835Cys)
c.2241+370G>T (n.2241+370G>T)
c.2205+370G>T (n.2205+370G>T)
c.2533G>T (p.Gly845Cys)
c.2133+370G>T (n.2133+370G>T)
c.1680-5833G>T (n.1680-5833G>T)
c.2629G>T (p.Gly877Cys)
c.2695G>T (p.Gly899Cys)
c.2692G>T (p.Gly898Cys)
c.2665G>T (p.Gly889Cys)
c.2611G>T (p.Gly871Cys)
c.2584G>T (p.Gly862Cys)
c.2569G>T (p.Gly857Cys)
c.2176G>T (p.Gly726Cys)
c.2638G>T (p.Gly880Cys)
c.2575G>T (p.Gly859Cys)
c.2572G>T (p.Gly858Cys)
c.2530G>T (p.Gly844Cys)
c.1603G>T (p.Gly535Cys)
 gnomAD v4
20g.63406676C>GCA409636438KCNQ2c.2641G>C (p.Gly881Arg)
c.2587G>C (p.Gly863Arg)
c.1984G>C (p.Gly662Arg)
c.2494G>C (p.Gly832Arg)
c.2155G>C (p.Gly719Arg)
c.2503G>C (p.Gly835Arg)
c.2241+370G>C (n.2241+370G>C)
c.2205+370G>C (n.2205+370G>C)
c.2533G>C (p.Gly845Arg)
c.2133+370G>C (n.2133+370G>C)
c.1680-5833G>C (n.1680-5833G>C)
c.2629G>C (p.Gly877Arg)
c.2695G>C (p.Gly899Arg)
c.2692G>C (p.Gly898Arg)
c.2665G>C (p.Gly889Arg)
c.2611G>C (p.Gly871Arg)
c.2584G>C (p.Gly862Arg)
c.2569G>C (p.Gly857Arg)
c.2176G>C (p.Gly726Arg)
c.2638G>C (p.Gly880Arg)
c.2575G>C (p.Gly859Arg)
c.2572G>C (p.Gly858Arg)
c.2530G>C (p.Gly844Arg)
c.1603G>C (p.Gly535Arg)
 gnomAD v4
20g.63406676C>TCA409636440KCNQ2c.2641G>A (p.Gly881Ser)
c.2587G>A (p.Gly863Ser)
c.1984G>A (p.Gly662Ser)
c.2494G>A (p.Gly832Ser)
c.2155G>A (p.Gly719Ser)
c.2503G>A (p.Gly835Ser)
c.2241+370G>A (n.2241+370G>A)
c.2205+370G>A (n.2205+370G>A)
c.2533G>A (p.Gly845Ser)
c.2133+370G>A (n.2133+370G>A)
c.1680-5833G>A (n.1680-5833G>A)
c.2629G>A (p.Gly877Ser)
c.2695G>A (p.Gly899Ser)
c.2692G>A (p.Gly898Ser)
c.2665G>A (p.Gly889Ser)
c.2611G>A (p.Gly871Ser)
c.2584G>A (p.Gly862Ser)
c.2569G>A (p.Gly857Ser)
c.2176G>A (p.Gly726Ser)
c.2638G>A (p.Gly880Ser)
c.2575G>A (p.Gly859Ser)
c.2572G>A (p.Gly858Ser)
c.2530G>A (p.Gly844Ser)
c.1603G>A (p.Gly535Ser)
20g.63406677A=CA2374774187KCNQ2c.2640T= (p.Phe880=)
c.2586T= (p.Phe862=)
c.1983T= (p.Phe661=)
c.2493T= (p.Phe831=)
c.2154T= (p.Phe718=)
c.2502T= (p.Phe834=)
c.2241+369T= (n.2241+369T=)
c.2205+369T= (n.2205+369T=)
c.2532T= (p.Phe844=)
c.2133+369T= (n.2133+369T=)
c.1680-5834T= (n.1680-5834T=)
c.2628T= (p.Phe876=)
c.2694T= (p.Phe898=)
c.2691T= (p.Phe897=)
c.2664T= (p.Phe888=)
c.2610T= (p.Phe870=)
c.2583T= (p.Phe861=)
c.2568T= (p.Phe856=)
c.2175T= (p.Phe725=)
c.2637T= (p.Phe879=)
c.2574T= (p.Phe858=)
c.2571T= (p.Phe857=)
c.2529T= (p.Phe843=)
c.1602T= (p.Phe534=)
20g.63406677A>CCA409636444KCNQ2c.2640T>G (p.Phe880Leu)
c.2586T>G (p.Phe862Leu)
c.1983T>G (p.Phe661Leu)
c.2493T>G (p.Phe831Leu)
c.2154T>G (p.Phe718Leu)
c.2502T>G (p.Phe834Leu)
c.2241+369T>G (n.2241+369T>G)
c.2205+369T>G (n.2205+369T>G)
c.2532T>G (p.Phe844Leu)
c.2133+369T>G (n.2133+369T>G)
c.1680-5834T>G (n.1680-5834T>G)
c.2628T>G (p.Phe876Leu)
c.2694T>G (p.Phe898Leu)
c.2691T>G (p.Phe897Leu)
c.2664T>G (p.Phe888Leu)
c.2610T>G (p.Phe870Leu)
c.2583T>G (p.Phe861Leu)
c.2568T>G (p.Phe856Leu)
c.2175T>G (p.Phe725Leu)
c.2637T>G (p.Phe879Leu)
c.2574T>G (p.Phe858Leu)
c.2571T>G (p.Phe857Leu)
c.2529T>G (p.Phe843Leu)
c.1602T>G (p.Phe534Leu)
20g.63406677A>GCA511339184KCNQ2c.2640T>C (p.Phe880=)
c.2586T>C (p.Phe862=)
c.1983T>C (p.Phe661=)
c.2493T>C (p.Phe831=)
c.2154T>C (p.Phe718=)
c.2502T>C (p.Phe834=)
c.2241+369T>C (n.2241+369T>C)
c.2205+369T>C (n.2205+369T>C)
c.2532T>C (p.Phe844=)
c.2133+369T>C (n.2133+369T>C)
c.1680-5834T>C (n.1680-5834T>C)
c.2628T>C (p.Phe876=)
c.2694T>C (p.Phe898=)
c.2691T>C (p.Phe897=)
c.2664T>C (p.Phe888=)
c.2610T>C (p.Phe870=)
c.2583T>C (p.Phe861=)
c.2568T>C (p.Phe856=)
c.2175T>C (p.Phe725=)
c.2637T>C (p.Phe879=)
c.2574T>C (p.Phe858=)
c.2571T>C (p.Phe857=)
c.2529T>C (p.Phe843=)
c.1602T>C (p.Phe534=)
 dbSNP gnomAD v2 gnomAD v4
20g.63406677A>TCA409636442KCNQ2c.2640T>A (p.Phe880Leu)
c.2586T>A (p.Phe862Leu)
c.1983T>A (p.Phe661Leu)
c.2493T>A (p.Phe831Leu)
c.2154T>A (p.Phe718Leu)
c.2502T>A (p.Phe834Leu)
c.2241+369T>A (n.2241+369T>A)
c.2205+369T>A (n.2205+369T>A)
c.2532T>A (p.Phe844Leu)
c.2133+369T>A (n.2133+369T>A)
c.1680-5834T>A (n.1680-5834T>A)
c.2628T>A (p.Phe876Leu)
c.2694T>A (p.Phe898Leu)
c.2691T>A (p.Phe897Leu)
c.2664T>A (p.Phe888Leu)
c.2610T>A (p.Phe870Leu)
c.2583T>A (p.Phe861Leu)
c.2568T>A (p.Phe856Leu)
c.2175T>A (p.Phe725Leu)
c.2637T>A (p.Phe879Leu)
c.2574T>A (p.Phe858Leu)
c.2571T>A (p.Phe857Leu)
c.2529T>A (p.Phe843Leu)
c.1602T>A (p.Phe534Leu)
20g.63406679delCA2653804361KCNQ2c.2640del (p.Phe880LeufsTer?)
c.2586del (p.Phe862LeufsTer?)
c.1983del (p.Phe661LeufsTer?)
c.2493del (p.Phe831LeufsTer?)
c.2154del (p.Phe718LeufsTer?)
c.2502del (p.Phe834LeufsTer?)
c.2241+369del (n.2241+369del)
c.2205+369del (n.2205+369del)
c.2532del (p.Phe844LeufsTer?)
c.2133+369del (n.2133+369del)
c.1680-5834del (n.1680-5834del)
c.2628del (p.Phe876LeufsTer?)
c.2694del (p.Phe898LeufsTer?)
c.2691del (p.Phe897LeufsTer?)
c.2664del (p.Phe888LeufsTer?)
c.2610del (p.Phe870LeufsTer?)
c.2583del (p.Phe861LeufsTer?)
c.2568del (p.Phe856LeufsTer?)
c.2175del (p.Phe725LeufsTer?)
c.2637del (p.Phe879LeufsTer?)
c.2574del (p.Phe858LeufsTer?)
c.2571del (p.Phe857LeufsTer?)
c.2529del (p.Phe843LeufsTer?)
c.1602del (p.Phe534LeufsTer?)
 gnomAD v4
20g.63406678A>CCA409636446KCNQ2c.2639T>G (p.Phe880Cys)
c.2585T>G (p.Phe862Cys)
c.1982T>G (p.Phe661Cys)
c.2492T>G (p.Phe831Cys)
c.2153T>G (p.Phe718Cys)
c.2501T>G (p.Phe834Cys)
c.2241+368T>G (n.2241+368T>G)
c.2205+368T>G (n.2205+368T>G)
c.2531T>G (p.Phe844Cys)
c.2133+368T>G (n.2133+368T>G)
c.1680-5835T>G (n.1680-5835T>G)
c.2627T>G (p.Phe876Cys)
c.2693T>G (p.Phe898Cys)
c.2690T>G (p.Phe897Cys)
c.2663T>G (p.Phe888Cys)
c.2609T>G (p.Phe870Cys)
c.2582T>G (p.Phe861Cys)
c.2567T>G (p.Phe856Cys)
c.2174T>G (p.Phe725Cys)
c.2636T>G (p.Phe879Cys)
c.2573T>G (p.Phe858Cys)
c.2570T>G (p.Phe857Cys)
c.2528T>G (p.Phe843Cys)
c.1601T>G (p.Phe534Cys)
20g.63406678A>GCA409636448KCNQ2c.2639T>C (p.Phe880Ser)
c.2585T>C (p.Phe862Ser)
c.1982T>C (p.Phe661Ser)
c.2492T>C (p.Phe831Ser)
c.2153T>C (p.Phe718Ser)
c.2501T>C (p.Phe834Ser)
c.2241+368T>C (n.2241+368T>C)
c.2205+368T>C (n.2205+368T>C)
c.2531T>C (p.Phe844Ser)
c.2133+368T>C (n.2133+368T>C)
c.1680-5835T>C (n.1680-5835T>C)
c.2627T>C (p.Phe876Ser)
c.2693T>C (p.Phe898Ser)
c.2690T>C (p.Phe897Ser)
c.2663T>C (p.Phe888Ser)
c.2609T>C (p.Phe870Ser)
c.2582T>C (p.Phe861Ser)
c.2567T>C (p.Phe856Ser)
c.2174T>C (p.Phe725Ser)
c.2636T>C (p.Phe879Ser)
c.2573T>C (p.Phe858Ser)
c.2570T>C (p.Phe857Ser)
c.2528T>C (p.Phe843Ser)
c.1601T>C (p.Phe534Ser)
20g.63406678A>TCA409636450KCNQ2c.2639T>A (p.Phe880Tyr)
c.2585T>A (p.Phe862Tyr)
c.1982T>A (p.Phe661Tyr)
c.2492T>A (p.Phe831Tyr)
c.2153T>A (p.Phe718Tyr)
c.2501T>A (p.Phe834Tyr)
c.2241+368T>A (n.2241+368T>A)
c.2205+368T>A (n.2205+368T>A)
c.2531T>A (p.Phe844Tyr)
c.2133+368T>A (n.2133+368T>A)
c.1680-5835T>A (n.1680-5835T>A)
c.2627T>A (p.Phe876Tyr)
c.2693T>A (p.Phe898Tyr)
c.2690T>A (p.Phe897Tyr)
c.2663T>A (p.Phe888Tyr)
c.2609T>A (p.Phe870Tyr)
c.2582T>A (p.Phe861Tyr)
c.2567T>A (p.Phe856Tyr)
c.2174T>A (p.Phe725Tyr)
c.2636T>A (p.Phe879Tyr)
c.2573T>A (p.Phe858Tyr)
c.2570T>A (p.Phe857Tyr)
c.2528T>A (p.Phe843Tyr)
c.1601T>A (p.Phe534Tyr)
20g.63406679A=CA2374774188KCNQ2c.2638T= (p.Phe880=)
c.2584T= (p.Phe862=)
c.1981T= (p.Phe661=)
c.2491T= (p.Phe831=)
c.2152T= (p.Phe718=)
c.2500T= (p.Phe834=)
c.2241+367T= (n.2241+367T=)
c.2205+367T= (n.2205+367T=)
c.2530T= (p.Phe844=)
c.2133+367T= (n.2133+367T=)
c.1680-5836T= (n.1680-5836T=)
c.2626T= (p.Phe876=)
c.2692T= (p.Phe898=)
c.2689T= (p.Phe897=)
c.2662T= (p.Phe888=)
c.2608T= (p.Phe870=)
c.2581T= (p.Phe861=)
c.2566T= (p.Phe856=)
c.2173T= (p.Phe725=)
c.2635T= (p.Phe879=)
c.2572T= (p.Phe858=)
c.2569T= (p.Phe857=)
c.2527T= (p.Phe843=)
c.1600T= (p.Phe534=)
20g.63406679A>CCA409636452KCNQ2c.2638T>G (p.Phe880Val)
c.2584T>G (p.Phe862Val)
c.1981T>G (p.Phe661Val)
c.2491T>G (p.Phe831Val)
c.2152T>G (p.Phe718Val)
c.2500T>G (p.Phe834Val)
c.2241+367T>G (n.2241+367T>G)
c.2205+367T>G (n.2205+367T>G)
c.2530T>G (p.Phe844Val)
c.2133+367T>G (n.2133+367T>G)
c.1680-5836T>G (n.1680-5836T>G)
c.2626T>G (p.Phe876Val)
c.2692T>G (p.Phe898Val)
c.2689T>G (p.Phe897Val)
c.2662T>G (p.Phe888Val)
c.2608T>G (p.Phe870Val)
c.2581T>G (p.Phe861Val)
c.2566T>G (p.Phe856Val)
c.2173T>G (p.Phe725Val)
c.2635T>G (p.Phe879Val)
c.2572T>G (p.Phe858Val)
c.2569T>G (p.Phe857Val)
c.2527T>G (p.Phe843Val)
c.1600T>G (p.Phe534Val)
20g.63406679A>GCA090955KCNQ2c.2638T>C (p.Phe880Leu)
c.2584T>C (p.Phe862Leu)
c.1981T>C (p.Phe661Leu)
c.2491T>C (p.Phe831Leu)
c.2152T>C (p.Phe718Leu)
c.2500T>C (p.Phe834Leu)
c.2241+367T>C (n.2241+367T>C)
c.2205+367T>C (n.2205+367T>C)
c.2530T>C (p.Phe844Leu)
c.2133+367T>C (n.2133+367T>C)
c.1680-5836T>C (n.1680-5836T>C)
c.2626T>C (p.Phe876Leu)
c.2692T>C (p.Phe898Leu)
c.2689T>C (p.Phe897Leu)
c.2662T>C (p.Phe888Leu)
c.2608T>C (p.Phe870Leu)
c.2581T>C (p.Phe861Leu)
c.2566T>C (p.Phe856Leu)
c.2173T>C (p.Phe725Leu)
c.2635T>C (p.Phe879Leu)
c.2572T>C (p.Phe858Leu)
c.2569T>C (p.Phe857Leu)
c.2527T>C (p.Phe843Leu)
c.1600T>C (p.Phe534Leu)
 ClinVar dbSNP gnomAD v4
20g.63406679A>TCA409636455KCNQ2c.2638T>A (p.Phe880Ile)
c.2584T>A (p.Phe862Ile)
c.1981T>A (p.Phe661Ile)
c.2491T>A (p.Phe831Ile)
c.2152T>A (p.Phe718Ile)
c.2500T>A (p.Phe834Ile)
c.2241+367T>A (n.2241+367T>A)
c.2205+367T>A (n.2205+367T>A)
c.2530T>A (p.Phe844Ile)
c.2133+367T>A (n.2133+367T>A)
c.1680-5836T>A (n.1680-5836T>A)
c.2626T>A (p.Phe876Ile)
c.2692T>A (p.Phe898Ile)
c.2689T>A (p.Phe897Ile)
c.2662T>A (p.Phe888Ile)
c.2608T>A (p.Phe870Ile)
c.2581T>A (p.Phe861Ile)
c.2566T>A (p.Phe856Ile)
c.2173T>A (p.Phe725Ile)
c.2635T>A (p.Phe879Ile)
c.2572T>A (p.Phe858Ile)
c.2569T>A (p.Phe857Ile)
c.2527T>A (p.Phe843Ile)
c.1600T>A (p.Phe534Ile)
20g.63406680G>ACA511339185KCNQ2c.2637C>T (p.Pro879=)
c.2583C>T (p.Pro861=)
c.1980C>T (p.Pro660=)
c.2490C>T (p.Pro830=)
c.2151C>T (p.Pro717=)
c.2499C>T (p.Pro833=)
c.2241+366C>T (n.2241+366C>T)
c.2205+366C>T (n.2205+366C>T)
c.2529C>T (p.Pro843=)
c.2133+366C>T (n.2133+366C>T)
c.1680-5837C>T (n.1680-5837C>T)
c.2625C>T (p.Pro875=)
c.2691C>T (p.Pro897=)
c.2688C>T (p.Pro896=)
c.2661C>T (p.Pro887=)
c.2607C>T (p.Pro869=)
c.2580C>T (p.Pro860=)
c.2565C>T (p.Pro855=)
c.2172C>T (p.Pro724=)
c.2634C>T (p.Pro878=)
c.2571C>T (p.Pro857=)
c.2568C>T (p.Pro856=)
c.2526C>T (p.Pro842=)
c.1599C>T (p.Pro533=)
20g.63406680G>CCA511339186KCNQ2c.2637C>G (p.Pro879=)
c.2583C>G (p.Pro861=)
c.1980C>G (p.Pro660=)
c.2490C>G (p.Pro830=)
c.2151C>G (p.Pro717=)
c.2499C>G (p.Pro833=)
c.2241+366C>G (n.2241+366C>G)
c.2205+366C>G (n.2205+366C>G)
c.2529C>G (p.Pro843=)
c.2133+366C>G (n.2133+366C>G)
c.1680-5837C>G (n.1680-5837C>G)
c.2625C>G (p.Pro875=)
c.2691C>G (p.Pro897=)
c.2688C>G (p.Pro896=)
c.2661C>G (p.Pro887=)
c.2607C>G (p.Pro869=)
c.2580C>G (p.Pro860=)
c.2565C>G (p.Pro855=)
c.2172C>G (p.Pro724=)
c.2634C>G (p.Pro878=)
c.2571C>G (p.Pro857=)
c.2568C>G (p.Pro856=)
c.2526C>G (p.Pro842=)
c.1599C>G (p.Pro533=)
 ClinVar
20g.63406680G=CA2374774189KCNQ2c.2637C= (p.Pro879=)
c.2583C= (p.Pro861=)
c.1980C= (p.Pro660=)
c.2490C= (p.Pro830=)
c.2151C= (p.Pro717=)
c.2499C= (p.Pro833=)
c.2241+366C= (n.2241+366C=)
c.2205+366C= (n.2205+366C=)
c.2529C= (p.Pro843=)
c.2133+366C= (n.2133+366C=)
c.1680-5837C= (n.1680-5837C=)
c.2625C= (p.Pro875=)
c.2691C= (p.Pro897=)
c.2688C= (p.Pro896=)
c.2661C= (p.Pro887=)
c.2607C= (p.Pro869=)
c.2580C= (p.Pro860=)
c.2565C= (p.Pro855=)
c.2172C= (p.Pro724=)
c.2634C= (p.Pro878=)
c.2571C= (p.Pro857=)
c.2568C= (p.Pro856=)
c.2526C= (p.Pro842=)
c.1599C= (p.Pro533=)
20g.63406680G>TCA511339187KCNQ2c.2637C>A (p.Pro879=)
c.2583C>A (p.Pro861=)
c.1980C>A (p.Pro660=)
c.2490C>A (p.Pro830=)
c.2151C>A (p.Pro717=)
c.2499C>A (p.Pro833=)
c.2241+366C>A (n.2241+366C>A)
c.2205+366C>A (n.2205+366C>A)
c.2529C>A (p.Pro843=)
c.2133+366C>A (n.2133+366C>A)
c.1680-5837C>A (n.1680-5837C>A)
c.2625C>A (p.Pro875=)
c.2691C>A (p.Pro897=)
c.2688C>A (p.Pro896=)
c.2661C>A (p.Pro887=)
c.2607C>A (p.Pro869=)
c.2580C>A (p.Pro860=)
c.2565C>A (p.Pro855=)
c.2172C>A (p.Pro724=)
c.2634C>A (p.Pro878=)
c.2571C>A (p.Pro857=)
c.2568C>A (p.Pro856=)
c.2526C>A (p.Pro842=)
c.1599C>A (p.Pro533=)
 ClinVar dbSNP gnomAD v4
20g.63406681G>ACA409636457KCNQ2c.2636C>T (p.Pro879Leu)
c.2582C>T (p.Pro861Leu)
c.1979C>T (p.Pro660Leu)
c.2489C>T (p.Pro830Leu)
c.2150C>T (p.Pro717Leu)
c.2498C>T (p.Pro833Leu)
c.2241+365C>T (n.2241+365C>T)
c.2205+365C>T (n.2205+365C>T)
c.2528C>T (p.Pro843Leu)
c.2133+365C>T (n.2133+365C>T)
c.1680-5838C>T (n.1680-5838C>T)
c.2624C>T (p.Pro875Leu)
c.2690C>T (p.Pro897Leu)
c.2687C>T (p.Pro896Leu)
c.2660C>T (p.Pro887Leu)
c.2606C>T (p.Pro869Leu)
c.2579C>T (p.Pro860Leu)
c.2564C>T (p.Pro855Leu)
c.2171C>T (p.Pro724Leu)
c.2633C>T (p.Pro878Leu)
c.2570C>T (p.Pro857Leu)
c.2567C>T (p.Pro856Leu)
c.2525C>T (p.Pro842Leu)
c.1598C>T (p.Pro533Leu)
 gnomAD v4
20g.63406681G>CCA409636460KCNQ2c.2636C>G (p.Pro879Arg)
c.2582C>G (p.Pro861Arg)
c.1979C>G (p.Pro660Arg)
c.2489C>G (p.Pro830Arg)
c.2150C>G (p.Pro717Arg)
c.2498C>G (p.Pro833Arg)
c.2241+365C>G (n.2241+365C>G)
c.2205+365C>G (n.2205+365C>G)
c.2528C>G (p.Pro843Arg)
c.2133+365C>G (n.2133+365C>G)
c.1680-5838C>G (n.1680-5838C>G)
c.2624C>G (p.Pro875Arg)
c.2690C>G (p.Pro897Arg)
c.2687C>G (p.Pro896Arg)
c.2660C>G (p.Pro887Arg)
c.2606C>G (p.Pro869Arg)
c.2579C>G (p.Pro860Arg)
c.2564C>G (p.Pro855Arg)
c.2171C>G (p.Pro724Arg)
c.2633C>G (p.Pro878Arg)
c.2570C>G (p.Pro857Arg)
c.2567C>G (p.Pro856Arg)
c.2525C>G (p.Pro842Arg)
c.1598C>G (p.Pro533Arg)
20g.63406681G>TCA409636462KCNQ2c.2636C>A (p.Pro879His)
c.2582C>A (p.Pro861His)
c.1979C>A (p.Pro660His)
c.2489C>A (p.Pro830His)
c.2150C>A (p.Pro717His)
c.2498C>A (p.Pro833His)
c.2241+365C>A (n.2241+365C>A)
c.2205+365C>A (n.2205+365C>A)
c.2528C>A (p.Pro843His)
c.2133+365C>A (n.2133+365C>A)
c.1680-5838C>A (n.1680-5838C>A)
c.2624C>A (p.Pro875His)
c.2690C>A (p.Pro897His)
c.2687C>A (p.Pro896His)
c.2660C>A (p.Pro887His)
c.2606C>A (p.Pro869His)
c.2579C>A (p.Pro860His)
c.2564C>A (p.Pro855His)
c.2171C>A (p.Pro724His)
c.2633C>A (p.Pro878His)
c.2570C>A (p.Pro857His)
c.2567C>A (p.Pro856His)
c.2525C>A (p.Pro842His)
c.1598C>A (p.Pro533His)
 gnomAD v4
20g.63406682G>ACA409636464KCNQ2c.2635C>T (p.Pro879Ser)
c.2581C>T (p.Pro861Ser)
c.1978C>T (p.Pro660Ser)
c.2488C>T (p.Pro830Ser)
c.2149C>T (p.Pro717Ser)
c.2497C>T (p.Pro833Ser)
c.2241+364C>T (n.2241+364C>T)
c.2205+364C>T (n.2205+364C>T)
c.2527C>T (p.Pro843Ser)
c.2133+364C>T (n.2133+364C>T)
c.1680-5839C>T (n.1680-5839C>T)
c.2623C>T (p.Pro875Ser)
c.2689C>T (p.Pro897Ser)
c.2686C>T (p.Pro896Ser)
c.2659C>T (p.Pro887Ser)
c.2605C>T (p.Pro869Ser)
c.2578C>T (p.Pro860Ser)
c.2563C>T (p.Pro855Ser)
c.2170C>T (p.Pro724Ser)
c.2632C>T (p.Pro878Ser)
c.2569C>T (p.Pro857Ser)
c.2566C>T (p.Pro856Ser)
c.2524C>T (p.Pro842Ser)
c.1597C>T (p.Pro533Ser)
 dbSNP gnomAD v4
20g.63406682G>CCA409636465KCNQ2c.2635C>G (p.Pro879Ala)
c.2581C>G (p.Pro861Ala)
c.1978C>G (p.Pro660Ala)
c.2488C>G (p.Pro830Ala)
c.2149C>G (p.Pro717Ala)
c.2497C>G (p.Pro833Ala)
c.2241+364C>G (n.2241+364C>G)
c.2205+364C>G (n.2205+364C>G)
c.2527C>G (p.Pro843Ala)
c.2133+364C>G (n.2133+364C>G)
c.1680-5839C>G (n.1680-5839C>G)
c.2623C>G (p.Pro875Ala)
c.2689C>G (p.Pro897Ala)
c.2686C>G (p.Pro896Ala)
c.2659C>G (p.Pro887Ala)
c.2605C>G (p.Pro869Ala)
c.2578C>G (p.Pro860Ala)
c.2563C>G (p.Pro855Ala)
c.2170C>G (p.Pro724Ala)
c.2632C>G (p.Pro878Ala)
c.2569C>G (p.Pro857Ala)
c.2566C>G (p.Pro856Ala)
c.2524C>G (p.Pro842Ala)
c.1597C>G (p.Pro533Ala)
20g.63406682G=CA2374774190KCNQ2c.2635C= (p.Pro879=)
c.2581C= (p.Pro861=)
c.1978C= (p.Pro660=)
c.2488C= (p.Pro830=)
c.2149C= (p.Pro717=)
c.2497C= (p.Pro833=)
c.2241+364C= (n.2241+364C=)
c.2205+364C= (n.2205+364C=)
c.2527C= (p.Pro843=)
c.2133+364C= (n.2133+364C=)
c.1680-5839C= (n.1680-5839C=)
c.2623C= (p.Pro875=)
c.2689C= (p.Pro897=)
c.2686C= (p.Pro896=)
c.2659C= (p.Pro887=)
c.2605C= (p.Pro869=)
c.2578C= (p.Pro860=)
c.2563C= (p.Pro855=)
c.2170C= (p.Pro724=)
c.2632C= (p.Pro878=)
c.2569C= (p.Pro857=)
c.2566C= (p.Pro856=)
c.2524C= (p.Pro842=)
c.1597C= (p.Pro533=)
20g.63406682G>TCA409636466KCNQ2c.2635C>A (p.Pro879Thr)
c.2581C>A (p.Pro861Thr)
c.1978C>A (p.Pro660Thr)
c.2488C>A (p.Pro830Thr)
c.2149C>A (p.Pro717Thr)
c.2497C>A (p.Pro833Thr)
c.2241+364C>A (n.2241+364C>A)
c.2205+364C>A (n.2205+364C>A)
c.2527C>A (p.Pro843Thr)
c.2133+364C>A (n.2133+364C>A)
c.1680-5839C>A (n.1680-5839C>A)
c.2623C>A (p.Pro875Thr)
c.2689C>A (p.Pro897Thr)
c.2686C>A (p.Pro896Thr)
c.2659C>A (p.Pro887Thr)
c.2605C>A (p.Pro869Thr)
c.2578C>A (p.Pro860Thr)
c.2563C>A (p.Pro855Thr)
c.2170C>A (p.Pro724Thr)
c.2632C>A (p.Pro878Thr)
c.2569C>A (p.Pro857Thr)
c.2566C>A (p.Pro856Thr)
c.2524C>A (p.Pro842Thr)
c.1597C>A (p.Pro533Thr)
 gnomAD v4
20g.63406683A>CCA511339188KCNQ2c.2634T>G (p.Gly878=)
c.2580T>G (p.Gly860=)
c.1977T>G (p.Gly659=)
c.2487T>G (p.Gly829=)
c.2148T>G (p.Gly716=)
c.2496T>G (p.Gly832=)
c.2241+363T>G (n.2241+363T>G)
c.2205+363T>G (n.2205+363T>G)
c.2526T>G (p.Gly842=)
c.2133+363T>G (n.2133+363T>G)
c.1680-5840T>G (n.1680-5840T>G)
c.2622T>G (p.Gly874=)
c.2688T>G (p.Gly896=)
c.2685T>G (p.Gly895=)
c.2658T>G (p.Gly886=)
c.2604T>G (p.Gly868=)
c.2577T>G (p.Gly859=)
c.2562T>G (p.Gly854=)
c.2169T>G (p.Gly723=)
c.2631T>G (p.Gly877=)
c.2568T>G (p.Gly856=)
c.2565T>G (p.Gly855=)
c.2523T>G (p.Gly841=)
c.1596T>G (p.Gly532=)
20g.63406683A>GCA511339189KCNQ2c.2634T>C (p.Gly878=)
c.2580T>C (p.Gly860=)
c.1977T>C (p.Gly659=)
c.2487T>C (p.Gly829=)
c.2148T>C (p.Gly716=)
c.2496T>C (p.Gly832=)
c.2241+363T>C (n.2241+363T>C)
c.2205+363T>C (n.2205+363T>C)
c.2526T>C (p.Gly842=)
c.2133+363T>C (n.2133+363T>C)
c.1680-5840T>C (n.1680-5840T>C)
c.2622T>C (p.Gly874=)
c.2688T>C (p.Gly896=)
c.2685T>C (p.Gly895=)
c.2658T>C (p.Gly886=)
c.2604T>C (p.Gly868=)
c.2577T>C (p.Gly859=)
c.2562T>C (p.Gly854=)
c.2169T>C (p.Gly723=)
c.2631T>C (p.Gly877=)
c.2568T>C (p.Gly856=)
c.2565T>C (p.Gly855=)
c.2523T>C (p.Gly841=)
c.1596T>C (p.Gly532=)
 gnomAD v4
20g.63406683A>TCA511339190KCNQ2c.2634T>A (p.Gly878=)
c.2580T>A (p.Gly860=)
c.1977T>A (p.Gly659=)
c.2487T>A (p.Gly829=)
c.2148T>A (p.Gly716=)
c.2496T>A (p.Gly832=)
c.2241+363T>A (n.2241+363T>A)
c.2205+363T>A (n.2205+363T>A)
c.2526T>A (p.Gly842=)
c.2133+363T>A (n.2133+363T>A)
c.1680-5840T>A (n.1680-5840T>A)
c.2622T>A (p.Gly874=)
c.2688T>A (p.Gly896=)
c.2685T>A (p.Gly895=)
c.2658T>A (p.Gly886=)
c.2604T>A (p.Gly868=)
c.2577T>A (p.Gly859=)
c.2562T>A (p.Gly854=)
c.2169T>A (p.Gly723=)
c.2631T>A (p.Gly877=)
c.2568T>A (p.Gly856=)
c.2565T>A (p.Gly855=)
c.2523T>A (p.Gly841=)
c.1596T>A (p.Gly532=)
20g.63406684C>ACA409636471KCNQ2c.2633G>T (p.Gly878Val)
c.2579G>T (p.Gly860Val)
c.1976G>T (p.Gly659Val)
c.2486G>T (p.Gly829Val)
c.2147G>T (p.Gly716Val)
c.2495G>T (p.Gly832Val)
c.2241+362G>T (n.2241+362G>T)
c.2205+362G>T (n.2205+362G>T)
c.2525G>T (p.Gly842Val)
c.2133+362G>T (n.2133+362G>T)
c.1680-5841G>T (n.1680-5841G>T)
c.2621G>T (p.Gly874Val)
c.2687G>T (p.Gly896Val)
c.2684G>T (p.Gly895Val)
c.2657G>T (p.Gly886Val)
c.2603G>T (p.Gly868Val)
c.2576G>T (p.Gly859Val)
c.2561G>T (p.Gly854Val)
c.2168G>T (p.Gly723Val)
c.2630G>T (p.Gly877Val)
c.2567G>T (p.Gly856Val)
c.2564G>T (p.Gly855Val)
c.2522G>T (p.Gly841Val)
c.1595G>T (p.Gly532Val)
 dbSNP gnomAD v2 gnomAD v4
20g.63406684C=CA2374774191KCNQ2c.2633G= (p.Gly878=)
c.2579G= (p.Gly860=)
c.1976G= (p.Gly659=)
c.2486G= (p.Gly829=)
c.2147G= (p.Gly716=)
c.2495G= (p.Gly832=)
c.2241+362G= (n.2241+362G=)
c.2205+362G= (n.2205+362G=)
c.2525G= (p.Gly842=)
c.2133+362G= (n.2133+362G=)
c.1680-5841G= (n.1680-5841G=)
c.2621G= (p.Gly874=)
c.2687G= (p.Gly896=)
c.2684G= (p.Gly895=)
c.2657G= (p.Gly886=)
c.2603G= (p.Gly868=)
c.2576G= (p.Gly859=)
c.2561G= (p.Gly854=)
c.2168G= (p.Gly723=)
c.2630G= (p.Gly877=)
c.2567G= (p.Gly856=)
c.2564G= (p.Gly855=)
c.2522G= (p.Gly841=)
c.1595G= (p.Gly532=)
20g.63406684C>GCA409636469KCNQ2c.2633G>C (p.Gly878Ala)
c.2579G>C (p.Gly860Ala)
c.1976G>C (p.Gly659Ala)
c.2486G>C (p.Gly829Ala)
c.2147G>C (p.Gly716Ala)
c.2495G>C (p.Gly832Ala)
c.2241+362G>C (n.2241+362G>C)
c.2205+362G>C (n.2205+362G>C)
c.2525G>C (p.Gly842Ala)
c.2133+362G>C (n.2133+362G>C)
c.1680-5841G>C (n.1680-5841G>C)
c.2621G>C (p.Gly874Ala)
c.2687G>C (p.Gly896Ala)
c.2684G>C (p.Gly895Ala)
c.2657G>C (p.Gly886Ala)
c.2603G>C (p.Gly868Ala)
c.2576G>C (p.Gly859Ala)
c.2561G>C (p.Gly854Ala)
c.2168G>C (p.Gly723Ala)
c.2630G>C (p.Gly877Ala)
c.2567G>C (p.Gly856Ala)
c.2564G>C (p.Gly855Ala)
c.2522G>C (p.Gly841Ala)
c.1595G>C (p.Gly532Ala)
20g.63406684C>TCA409636468KCNQ2c.2633G>A (p.Gly878Asp)
c.2579G>A (p.Gly860Asp)
c.1976G>A (p.Gly659Asp)
c.2486G>A (p.Gly829Asp)
c.2147G>A (p.Gly716Asp)
c.2495G>A (p.Gly832Asp)
c.2241+362G>A (n.2241+362G>A)
c.2205+362G>A (n.2205+362G>A)
c.2525G>A (p.Gly842Asp)
c.2133+362G>A (n.2133+362G>A)
c.1680-5841G>A (n.1680-5841G>A)
c.2621G>A (p.Gly874Asp)
c.2687G>A (p.Gly896Asp)
c.2684G>A (p.Gly895Asp)
c.2657G>A (p.Gly886Asp)
c.2603G>A (p.Gly868Asp)
c.2576G>A (p.Gly859Asp)
c.2561G>A (p.Gly854Asp)
c.2168G>A (p.Gly723Asp)
c.2630G>A (p.Gly877Asp)
c.2567G>A (p.Gly856Asp)
c.2564G>A (p.Gly855Asp)
c.2522G>A (p.Gly841Asp)
c.1595G>A (p.Gly532Asp)
20g.63406685C>ACA409636473KCNQ2c.2632G>T (p.Gly878Cys)
c.2578G>T (p.Gly860Cys)
c.1975G>T (p.Gly659Cys)
c.2485G>T (p.Gly829Cys)
c.2146G>T (p.Gly716Cys)
c.2494G>T (p.Gly832Cys)
c.2241+361G>T (n.2241+361G>T)
c.2205+361G>T (n.2205+361G>T)
c.2524G>T (p.Gly842Cys)
c.2133+361G>T (n.2133+361G>T)
c.1680-5842G>T (n.1680-5842G>T)
c.2620G>T (p.Gly874Cys)
c.2686G>T (p.Gly896Cys)
c.2683G>T (p.Gly895Cys)
c.2656G>T (p.Gly886Cys)
c.2602G>T (p.Gly868Cys)
c.2575G>T (p.Gly859Cys)
c.2560G>T (p.Gly854Cys)
c.2167G>T (p.Gly723Cys)
c.2629G>T (p.Gly877Cys)
c.2566G>T (p.Gly856Cys)
c.2563G>T (p.Gly855Cys)
c.2521G>T (p.Gly841Cys)
c.1594G>T (p.Gly532Cys)
 gnomAD v4
20g.63406685C>GCA409636475KCNQ2c.2632G>C (p.Gly878Arg)
c.2578G>C (p.Gly860Arg)
c.1975G>C (p.Gly659Arg)
c.2485G>C (p.Gly829Arg)
c.2146G>C (p.Gly716Arg)
c.2494G>C (p.Gly832Arg)
c.2241+361G>C (n.2241+361G>C)
c.2205+361G>C (n.2205+361G>C)
c.2524G>C (p.Gly842Arg)
c.2133+361G>C (n.2133+361G>C)
c.1680-5842G>C (n.1680-5842G>C)
c.2620G>C (p.Gly874Arg)
c.2686G>C (p.Gly896Arg)
c.2683G>C (p.Gly895Arg)
c.2656G>C (p.Gly886Arg)
c.2602G>C (p.Gly868Arg)
c.2575G>C (p.Gly859Arg)
c.2560G>C (p.Gly854Arg)
c.2167G>C (p.Gly723Arg)
c.2629G>C (p.Gly877Arg)
c.2566G>C (p.Gly856Arg)
c.2563G>C (p.Gly855Arg)
c.2521G>C (p.Gly841Arg)
c.1594G>C (p.Gly532Arg)
 ClinVar
20g.63406685C>TCA409636477KCNQ2c.2632G>A (p.Gly878Ser)
c.2578G>A (p.Gly860Ser)
c.1975G>A (p.Gly659Ser)
c.2485G>A (p.Gly829Ser)
c.2146G>A (p.Gly716Ser)
c.2494G>A (p.Gly832Ser)
c.2241+361G>A (n.2241+361G>A)
c.2205+361G>A (n.2205+361G>A)
c.2524G>A (p.Gly842Ser)
c.2133+361G>A (n.2133+361G>A)
c.1680-5842G>A (n.1680-5842G>A)
c.2620G>A (p.Gly874Ser)
c.2686G>A (p.Gly896Ser)
c.2683G>A (p.Gly895Ser)
c.2656G>A (p.Gly886Ser)
c.2602G>A (p.Gly868Ser)
c.2575G>A (p.Gly859Ser)
c.2560G>A (p.Gly854Ser)
c.2167G>A (p.Gly723Ser)
c.2629G>A (p.Gly877Ser)
c.2566G>A (p.Gly856Ser)
c.2563G>A (p.Gly855Ser)
c.2521G>A (p.Gly841Ser)
c.1594G>A (p.Gly532Ser)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406686C>ACA409636479KCNQ2c.2631G>T (p.Glu877Asp)
c.2577G>T (p.Glu859Asp)
c.1974G>T (p.Glu658Asp)
c.2484G>T (p.Glu828Asp)
c.2145G>T (p.Glu715Asp)
c.2493G>T (p.Glu831Asp)
c.2241+360G>T (n.2241+360G>T)
c.2205+360G>T (n.2205+360G>T)
c.2523G>T (p.Glu841Asp)
c.2133+360G>T (n.2133+360G>T)
c.1680-5843G>T (n.1680-5843G>T)
c.2619G>T (p.Glu873Asp)
c.2685G>T (p.Glu895Asp)
c.2682G>T (p.Glu894Asp)
c.2655G>T (p.Glu885Asp)
c.2601G>T (p.Glu867Asp)
c.2574G>T (p.Glu858Asp)
c.2559G>T (p.Glu853Asp)
c.2166G>T (p.Glu722Asp)
c.2628G>T (p.Glu876Asp)
c.2565G>T (p.Glu855Asp)
c.2562G>T (p.Glu854Asp)
c.2520G>T (p.Glu840Asp)
c.1593G>T (p.Glu531Asp)
 gnomAD v4
20g.63406686C=CA2374774192KCNQ2c.2631G= (p.Glu877=)
c.2577G= (p.Glu859=)
c.1974G= (p.Glu658=)
c.2484G= (p.Glu828=)
c.2145G= (p.Glu715=)
c.2493G= (p.Glu831=)
c.2241+360G= (n.2241+360G=)
c.2205+360G= (n.2205+360G=)
c.2523G= (p.Glu841=)
c.2133+360G= (n.2133+360G=)
c.1680-5843G= (n.1680-5843G=)
c.2619G= (p.Glu873=)
c.2685G= (p.Glu895=)
c.2682G= (p.Glu894=)
c.2655G= (p.Glu885=)
c.2601G= (p.Glu867=)
c.2574G= (p.Glu858=)
c.2559G= (p.Glu853=)
c.2166G= (p.Glu722=)
c.2628G= (p.Glu876=)
c.2565G= (p.Glu855=)
c.2562G= (p.Glu854=)
c.2520G= (p.Glu840=)
c.1593G= (p.Glu531=)
20g.63406686C>GCA409636481KCNQ2c.2631G>C (p.Glu877Asp)
c.2577G>C (p.Glu859Asp)
c.1974G>C (p.Glu658Asp)
c.2484G>C (p.Glu828Asp)
c.2145G>C (p.Glu715Asp)
c.2493G>C (p.Glu831Asp)
c.2241+360G>C (n.2241+360G>C)
c.2205+360G>C (n.2205+360G>C)
c.2523G>C (p.Glu841Asp)
c.2133+360G>C (n.2133+360G>C)
c.1680-5843G>C (n.1680-5843G>C)
c.2619G>C (p.Glu873Asp)
c.2685G>C (p.Glu895Asp)
c.2682G>C (p.Glu894Asp)
c.2655G>C (p.Glu885Asp)
c.2601G>C (p.Glu867Asp)
c.2574G>C (p.Glu858Asp)
c.2559G>C (p.Glu853Asp)
c.2166G>C (p.Glu722Asp)
c.2628G>C (p.Glu876Asp)
c.2565G>C (p.Glu855Asp)
c.2562G>C (p.Glu854Asp)
c.2520G>C (p.Glu840Asp)
c.1593G>C (p.Glu531Asp)
 gnomAD v4
20g.63406686C>TCA511339191KCNQ2c.2631G>A (p.Glu877=)
c.2577G>A (p.Glu859=)
c.1974G>A (p.Glu658=)
c.2484G>A (p.Glu828=)
c.2145G>A (p.Glu715=)
c.2493G>A (p.Glu831=)
c.2241+360G>A (n.2241+360G>A)
c.2205+360G>A (n.2205+360G>A)
c.2523G>A (p.Glu841=)
c.2133+360G>A (n.2133+360G>A)
c.1680-5843G>A (n.1680-5843G>A)
c.2619G>A (p.Glu873=)
c.2685G>A (p.Glu895=)
c.2682G>A (p.Glu894=)
c.2655G>A (p.Glu885=)
c.2601G>A (p.Glu867=)
c.2574G>A (p.Glu858=)
c.2559G>A (p.Glu853=)
c.2166G>A (p.Glu722=)
c.2628G>A (p.Glu876=)
c.2565G>A (p.Glu855=)
c.2562G>A (p.Glu854=)
c.2520G>A (p.Glu840=)
c.1593G>A (p.Glu531=)
 ClinVar dbSNP
20g.63406687T>ACA317421522KCNQ2c.2630A>T (p.Glu877Val)
c.2576A>T (p.Glu859Val)
c.1973A>T (p.Glu658Val)
c.2483A>T (p.Glu828Val)
c.2144A>T (p.Glu715Val)
c.2492A>T (p.Glu831Val)
c.2241+359A>T (n.2241+359A>T)
c.2205+359A>T (n.2205+359A>T)
c.2522A>T (p.Glu841Val)
c.2133+359A>T (n.2133+359A>T)
c.1680-5844A>T (n.1680-5844A>T)
c.2618A>T (p.Glu873Val)
c.2684A>T (p.Glu895Val)
c.2681A>T (p.Glu894Val)
c.2654A>T (p.Glu885Val)
c.2600A>T (p.Glu867Val)
c.2573A>T (p.Glu858Val)
c.2558A>T (p.Glu853Val)
c.2165A>T (p.Glu722Val)
c.2627A>T (p.Glu876Val)
c.2564A>T (p.Glu855Val)
c.2561A>T (p.Glu854Val)
c.2519A>T (p.Glu840Val)
c.1592A>T (p.Glu531Val)
 dbSNP
20g.63406687T>CCA409636484KCNQ2c.2630A>G (p.Glu877Gly)
c.2576A>G (p.Glu859Gly)
c.1973A>G (p.Glu658Gly)
c.2483A>G (p.Glu828Gly)
c.2144A>G (p.Glu715Gly)
c.2492A>G (p.Glu831Gly)
c.2241+359A>G (n.2241+359A>G)
c.2205+359A>G (n.2205+359A>G)
c.2522A>G (p.Glu841Gly)
c.2133+359A>G (n.2133+359A>G)
c.1680-5844A>G (n.1680-5844A>G)
c.2618A>G (p.Glu873Gly)
c.2684A>G (p.Glu895Gly)
c.2681A>G (p.Glu894Gly)
c.2654A>G (p.Glu885Gly)
c.2600A>G (p.Glu867Gly)
c.2573A>G (p.Glu858Gly)
c.2558A>G (p.Glu853Gly)
c.2165A>G (p.Glu722Gly)
c.2627A>G (p.Glu876Gly)
c.2564A>G (p.Glu855Gly)
c.2561A>G (p.Glu854Gly)
c.2519A>G (p.Glu840Gly)
c.1592A>G (p.Glu531Gly)
20g.63406687T>GCA409636486KCNQ2c.2630A>C (p.Glu877Ala)
c.2576A>C (p.Glu859Ala)
c.1973A>C (p.Glu658Ala)
c.2483A>C (p.Glu828Ala)
c.2144A>C (p.Glu715Ala)
c.2492A>C (p.Glu831Ala)
c.2241+359A>C (n.2241+359A>C)
c.2205+359A>C (n.2205+359A>C)
c.2522A>C (p.Glu841Ala)
c.2133+359A>C (n.2133+359A>C)
c.1680-5844A>C (n.1680-5844A>C)
c.2618A>C (p.Glu873Ala)
c.2684A>C (p.Glu895Ala)
c.2681A>C (p.Glu894Ala)
c.2654A>C (p.Glu885Ala)
c.2600A>C (p.Glu867Ala)
c.2573A>C (p.Glu858Ala)
c.2558A>C (p.Glu853Ala)
c.2165A>C (p.Glu722Ala)
c.2627A>C (p.Glu876Ala)
c.2564A>C (p.Glu855Ala)
c.2561A>C (p.Glu854Ala)
c.2519A>C (p.Glu840Ala)
c.1592A>C (p.Glu531Ala)
20g.63406687T=CA2374774193KCNQ2c.2630A= (p.Glu877=)
c.2576A= (p.Glu859=)
c.1973A= (p.Glu658=)
c.2483A= (p.Glu828=)
c.2144A= (p.Glu715=)
c.2492A= (p.Glu831=)
c.2241+359A= (n.2241+359A=)
c.2205+359A= (n.2205+359A=)
c.2522A= (p.Glu841=)
c.2133+359A= (n.2133+359A=)
c.1680-5844A= (n.1680-5844A=)
c.2618A= (p.Glu873=)
c.2684A= (p.Glu895=)
c.2681A= (p.Glu894=)
c.2654A= (p.Glu885=)
c.2600A= (p.Glu867=)
c.2573A= (p.Glu858=)
c.2558A= (p.Glu853=)
c.2165A= (p.Glu722=)
c.2627A= (p.Glu876=)
c.2564A= (p.Glu855=)
c.2561A= (p.Glu854=)
c.2519A= (p.Glu840=)
c.1592A= (p.Glu531=)
20g.63406688C>ACA409636489KCNQ2c.2629G>T (p.Glu877Ter)
c.2575G>T (p.Glu859Ter)
c.1972G>T (p.Glu658Ter)
c.2482G>T (p.Glu828Ter)
c.2143G>T (p.Glu715Ter)
c.2491G>T (p.Glu831Ter)
c.2241+358G>T (n.2241+358G>T)
c.2205+358G>T (n.2205+358G>T)
c.2521G>T (p.Glu841Ter)
c.2133+358G>T (n.2133+358G>T)
c.1680-5845G>T (n.1680-5845G>T)
c.2617G>T (p.Glu873Ter)
c.2683G>T (p.Glu895Ter)
c.2680G>T (p.Glu894Ter)
c.2653G>T (p.Glu885Ter)
c.2599G>T (p.Glu867Ter)
c.2572G>T (p.Glu858Ter)
c.2557G>T (p.Glu853Ter)
c.2164G>T (p.Glu722Ter)
c.2626G>T (p.Glu876Ter)
c.2563G>T (p.Glu855Ter)
c.2560G>T (p.Glu854Ter)
c.2518G>T (p.Glu840Ter)
c.1591G>T (p.Glu531Ter)
 gnomAD v4
20g.63406688C>GCA409636490KCNQ2c.2629G>C (p.Glu877Gln)
c.2575G>C (p.Glu859Gln)
c.1972G>C (p.Glu658Gln)
c.2482G>C (p.Glu828Gln)
c.2143G>C (p.Glu715Gln)
c.2491G>C (p.Glu831Gln)
c.2241+358G>C (n.2241+358G>C)
c.2205+358G>C (n.2205+358G>C)
c.2521G>C (p.Glu841Gln)
c.2133+358G>C (n.2133+358G>C)
c.1680-5845G>C (n.1680-5845G>C)
c.2617G>C (p.Glu873Gln)
c.2683G>C (p.Glu895Gln)
c.2680G>C (p.Glu894Gln)
c.2653G>C (p.Glu885Gln)
c.2599G>C (p.Glu867Gln)
c.2572G>C (p.Glu858Gln)
c.2557G>C (p.Glu853Gln)
c.2164G>C (p.Glu722Gln)
c.2626G>C (p.Glu876Gln)
c.2563G>C (p.Glu855Gln)
c.2560G>C (p.Glu854Gln)
c.2518G>C (p.Glu840Gln)
c.1591G>C (p.Glu531Gln)
20g.63406688C>TCA409636491KCNQ2c.2629G>A (p.Glu877Lys)
c.2575G>A (p.Glu859Lys)
c.1972G>A (p.Glu658Lys)
c.2482G>A (p.Glu828Lys)
c.2143G>A (p.Glu715Lys)
c.2491G>A (p.Glu831Lys)
c.2241+358G>A (n.2241+358G>A)
c.2205+358G>A (n.2205+358G>A)
c.2521G>A (p.Glu841Lys)
c.2133+358G>A (n.2133+358G>A)
c.1680-5845G>A (n.1680-5845G>A)
c.2617G>A (p.Glu873Lys)
c.2683G>A (p.Glu895Lys)
c.2680G>A (p.Glu894Lys)
c.2653G>A (p.Glu885Lys)
c.2599G>A (p.Glu867Lys)
c.2572G>A (p.Glu858Lys)
c.2557G>A (p.Glu853Lys)
c.2164G>A (p.Glu722Lys)
c.2626G>A (p.Glu876Lys)
c.2563G>A (p.Glu855Lys)
c.2560G>A (p.Glu854Lys)
c.2518G>A (p.Glu840Lys)
c.1591G>A (p.Glu531Lys)
 ClinVar gnomAD v4

Number of alleles fetched