Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63406573T>C | CA2653803849 | KCNQ2 | c.*71A>G (n.*71A>G) c.2258A>G (n.2258A>G) c.2241+473A>G (n.2241+473A>G) c.2205+473A>G (n.2205+473A>G) c.2133+473A>G (n.2133+473A>G) c.1680-5730A>G (n.1680-5730A>G) | gnomAD v4 |
20 | g.63406574T>C | CA2653803850 | KCNQ2 | c.*70A>G (n.*70A>G) c.2257A>G (n.2257A>G) c.2241+472A>G (n.2241+472A>G) c.2205+472A>G (n.2205+472A>G) c.2133+472A>G (n.2133+472A>G) c.1680-5731A>G (n.1680-5731A>G) | gnomAD v4 |
20 | g.63406575C>A | CA2653803851 | KCNQ2 | c.*69G>T (n.*69G>T) c.2256G>T (n.2256G>T) c.2241+471G>T (n.2241+471G>T) c.2205+471G>T (n.2205+471G>T) c.2133+471G>T (n.2133+471G>T) c.1680-5732G>T (n.1680-5732G>T) | gnomAD v4 |
20 | g.63406575C= | CA2374774122 | KCNQ2 | c.*69G= (n.*69G=) c.2256G= (n.2256G=) c.2241+471G= (n.2241+471G=) c.2205+471G= (n.2205+471G=) c.2133+471G= (n.2133+471G=) c.1680-5732G= (n.1680-5732G=) | |
20 | g.63406575C>G | CA636340662 | KCNQ2 | c.*69G>C (n.*69G>C) c.2256G>C (n.2256G>C) c.2241+471G>C (n.2241+471G>C) c.2205+471G>C (n.2205+471G>C) c.2133+471G>C (n.2133+471G>C) c.1680-5732G>C (n.1680-5732G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406575C>T | CA746467594 | KCNQ2 | c.*69G>A (n.*69G>A) c.2256G>A (n.2256G>A) c.2241+471G>A (n.2241+471G>A) c.2205+471G>A (n.2205+471G>A) c.2133+471G>A (n.2133+471G>A) c.1680-5732G>A (n.1680-5732G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406577del | CA2577453402 | KCNQ2 | c.*69del (n.*69del) c.2256del (n.2256del) c.2241+471del (n.2241+471del) c.2205+471del (n.2205+471del) c.2133+471del (n.2133+471del) c.1680-5732del (n.1680-5732del) | |
20 | g.63406576C>A | CA2653803856 | KCNQ2 | c.*68G>T (n.*68G>T) c.2255G>T (n.2255G>T) c.2241+470G>T (n.2241+470G>T) c.2205+470G>T (n.2205+470G>T) c.2133+470G>T (n.2133+470G>T) c.1680-5733G>T (n.1680-5733G>T) | gnomAD v4 |
20 | g.63406576C= | CA2374774123 | KCNQ2 | c.*68G= (n.*68G=) c.2255G= (n.2255G=) c.2241+470G= (n.2241+470G=) c.2205+470G= (n.2205+470G=) c.2133+470G= (n.2133+470G=) c.1680-5733G= (n.1680-5733G=) | |
20 | g.63406576C>T | CA746467598 | KCNQ2 | c.*68G>A (n.*68G>A) c.2255G>A (n.2255G>A) c.2241+470G>A (n.2241+470G>A) c.2205+470G>A (n.2205+470G>A) c.2133+470G>A (n.2133+470G>A) c.1680-5733G>A (n.1680-5733G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406577C>A | CA2653803858 | KCNQ2 | c.*67G>T (n.*67G>T) c.2254G>T (n.2254G>T) c.2241+469G>T (n.2241+469G>T) c.2205+469G>T (n.2205+469G>T) c.2133+469G>T (n.2133+469G>T) c.1680-5734G>T (n.1680-5734G>T) | gnomAD v4 |
20 | g.63406577C= | CA2374774124 | KCNQ2 | c.*67G= (n.*67G=) c.2254G= (n.2254G=) c.2241+469G= (n.2241+469G=) c.2205+469G= (n.2205+469G=) c.2133+469G= (n.2133+469G=) c.1680-5734G= (n.1680-5734G=) | |
20 | g.63406577C>T | CA317421286 | KCNQ2 | c.*67G>A (n.*67G>A) c.2254G>A (n.2254G>A) c.2241+469G>A (n.2241+469G>A) c.2205+469G>A (n.2205+469G>A) c.2133+469G>A (n.2133+469G>A) c.1680-5734G>A (n.1680-5734G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406578G>A | CA2577453403 | KCNQ2 | c.*66C>T (n.*66C>T) c.2253C>T (n.2253C>T) c.2241+468C>T (n.2241+468C>T) c.2205+468C>T (n.2205+468C>T) c.2133+468C>T (n.2133+468C>T) c.1680-5735C>T (n.1680-5735C>T) | gnomAD v4 |
20 | g.63406578G>T | CA2653803861 | KCNQ2 | c.*66C>A (n.*66C>A) c.2253C>A (n.2253C>A) c.2241+468C>A (n.2241+468C>A) c.2205+468C>A (n.2205+468C>A) c.2133+468C>A (n.2133+468C>A) c.1680-5735C>A (n.1680-5735C>A) | gnomAD v4 |
20 | g.63406579C>A | CA2653803863 | KCNQ2 | c.*65G>T (n.*65G>T) c.2252G>T (n.2252G>T) c.2241+467G>T (n.2241+467G>T) c.2205+467G>T (n.2205+467G>T) c.2133+467G>T (n.2133+467G>T) c.1680-5736G>T (n.1680-5736G>T) | gnomAD v4 |
20 | g.63406579C>T | CA2653803866 | KCNQ2 | c.*65G>A (n.*65G>A) c.2252G>A (n.2252G>A) c.2241+467G>A (n.2241+467G>A) c.2205+467G>A (n.2205+467G>A) c.2133+467G>A (n.2133+467G>A) c.1680-5736G>A (n.1680-5736G>A) | gnomAD v4 |
20 | g.63406580C>A | CA2653803867 | KCNQ2 | c.*64G>T (n.*64G>T) c.2251G>T (n.2251G>T) c.2241+466G>T (n.2241+466G>T) c.2205+466G>T (n.2205+466G>T) c.2133+466G>T (n.2133+466G>T) c.1680-5737G>T (n.1680-5737G>T) | gnomAD v4 |
20 | g.63406580C>T | CA2653803869 | KCNQ2 | c.*64G>A (n.*64G>A) c.2251G>A (n.2251G>A) c.2241+466G>A (n.2241+466G>A) c.2205+466G>A (n.2205+466G>A) c.2133+466G>A (n.2133+466G>A) c.1680-5737G>A (n.1680-5737G>A) | gnomAD v4 |
20 | g.63406581T>C | CA2577453404 | KCNQ2 | c.*63A>G (n.*63A>G) c.2250A>G (n.2250A>G) c.2241+465A>G (n.2241+465A>G) c.2205+465A>G (n.2205+465A>G) c.2133+465A>G (n.2133+465A>G) c.1680-5738A>G (n.1680-5738A>G) | gnomAD v4 |
20 | g.63406582C>A | CA1019288242 | KCNQ2 | c.*62G>T (n.*62G>T) c.2249G>T (n.2249G>T) c.2241+464G>T (n.2241+464G>T) c.2205+464G>T (n.2205+464G>T) c.2133+464G>T (n.2133+464G>T) c.1680-5739G>T (n.1680-5739G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406582C= | CA2374774125 | KCNQ2 | c.*62G= (n.*62G=) c.2249G= (n.2249G=) c.2241+464G= (n.2241+464G=) c.2205+464G= (n.2205+464G=) c.2133+464G= (n.2133+464G=) c.1680-5739G= (n.1680-5739G=) | |
20 | g.63406582C>G | CA2653803874 | KCNQ2 | c.*62G>C (n.*62G>C) c.2249G>C (n.2249G>C) c.2241+464G>C (n.2241+464G>C) c.2205+464G>C (n.2205+464G>C) c.2133+464G>C (n.2133+464G>C) c.1680-5739G>C (n.1680-5739G>C) | gnomAD v4 |
20 | g.63406582C>T | CA2653803896 | KCNQ2 | c.*62G>A (n.*62G>A) c.2249G>A (n.2249G>A) c.2241+464G>A (n.2241+464G>A) c.2205+464G>A (n.2205+464G>A) c.2133+464G>A (n.2133+464G>A) c.1680-5739G>A (n.1680-5739G>A) | gnomAD v4 |
20 | g.63406583A= | CA2374774126 | KCNQ2 | c.*61T= (n.*61T=) c.2248T= (n.2248T=) c.2241+463T= (n.2241+463T=) c.2205+463T= (n.2205+463T=) c.2133+463T= (n.2133+463T=) c.1680-5740T= (n.1680-5740T=) | |
20 | g.63406583A>C | CA746467602 | KCNQ2 | c.*61T>G (n.*61T>G) c.2248T>G (n.2248T>G) c.2241+463T>G (n.2241+463T>G) c.2205+463T>G (n.2205+463T>G) c.2133+463T>G (n.2133+463T>G) c.1680-5740T>G (n.1680-5740T>G) | dbSNP |
20 | g.63406583A>G | CA2653803898 | KCNQ2 | c.*61T>C (n.*61T>C) c.2248T>C (n.2248T>C) c.2241+463T>C (n.2241+463T>C) c.2205+463T>C (n.2205+463T>C) c.2133+463T>C (n.2133+463T>C) c.1680-5740T>C (n.1680-5740T>C) | gnomAD v4 |
20 | g.63406584A>G | CA2653803901 | KCNQ2 | c.*60T>C (n.*60T>C) c.2247T>C (n.2247T>C) c.2241+462T>C (n.2241+462T>C) c.2205+462T>C (n.2205+462T>C) c.2133+462T>C (n.2133+462T>C) c.1680-5741T>C (n.1680-5741T>C) | gnomAD v4 |
20 | g.63406586A>G | CA2653803902 | KCNQ2 | c.*58T>C (n.*58T>C) c.2245T>C (n.2245T>C) c.2241+460T>C (n.2241+460T>C) c.2205+460T>C (n.2205+460T>C) c.2133+460T>C (n.2133+460T>C) c.1680-5743T>C (n.1680-5743T>C) | gnomAD v4 |
20 | g.63406587C>A | CA2653803906 | KCNQ2 | c.*57G>T (n.*57G>T) c.2244G>T (n.2244G>T) c.2241+459G>T (n.2241+459G>T) c.2205+459G>T (n.2205+459G>T) c.2133+459G>T (n.2133+459G>T) c.1680-5744G>T (n.1680-5744G>T) | gnomAD v4 |
20 | g.63406587C>G | CA2595908143 | KCNQ2 | c.*57G>C (n.*57G>C) c.2244G>C (n.2244G>C) c.2241+459G>C (n.2241+459G>C) c.2205+459G>C (n.2205+459G>C) c.2133+459G>C (n.2133+459G>C) c.1680-5744G>C (n.1680-5744G>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406587C>T | CA2653803904 | KCNQ2 | c.*57G>A (n.*57G>A) c.2244G>A (n.2244G>A) c.2241+459G>A (n.2241+459G>A) c.2205+459G>A (n.2205+459G>A) c.2133+459G>A (n.2133+459G>A) c.1680-5744G>A (n.1680-5744G>A) | gnomAD v4 |
20 | g.63406588C>A | CA2653803918 | KCNQ2 | c.*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 |
20 | g.63406588C>T | CA2653803920 | KCNQ2 | c.*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 |
20 | g.63406589T>G | CA2374774128 | KCNQ2 | c.*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 |
20 | g.63406589T= | CA2374774127 | KCNQ2 | c.*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=) | |
20 | g.63406590C>A | CA2653803944 | KCNQ2 | c.*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 |
20 | g.63406590C>T | CA2653803952 | KCNQ2 | c.*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 |
20 | g.63406591G>A | CA317421305 | KCNQ2 | c.*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 |
20 | g.63406591G>C | CA2653803959 | KCNQ2 | c.*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 |
20 | g.63406591G= | CA2374774129 | KCNQ2 | c.*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=) | |
20 | g.63406591G>T | CA2653803963 | KCNQ2 | c.*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 |
20 | g.63406592del | CA2577453405 | KCNQ2 | c.*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) | |
20 | g.63406592G>A | CA317421310 | KCNQ2 | c.*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 |
20 | g.63406592G>C | CA2653803976 | KCNQ2 | c.*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 |
20 | g.63406592G= | CA2374774130 | KCNQ2 | c.*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=) | |
20 | g.63406592G>T | CA1019288243 | KCNQ2 | c.*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 |
20 | g.63406593A>G | CA2653803983 | KCNQ2 | c.*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 |
20 | g.63406593A>T | CA2653803985 | KCNQ2 | c.*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 |
20 | g.63406594G>A | CA636340663 | KCNQ2 | c.*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 |
20 | g.63406594G= | CA2374774131 | KCNQ2 | c.*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=) | |
20 | g.63406594G>T | CA2653803988 | KCNQ2 | c.*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 |
20 | g.63406595G>A | CA636340664 | KCNQ2 | c.*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 |
20 | g.63406595G= | CA2374774132 | KCNQ2 | c.*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=) | |
20 | g.63406595G>T | CA2653803991 | KCNQ2 | c.*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 |
20 | g.63406596C>A | CA2653803992 | KCNQ2 | c.*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 |
20 | g.63406596C>T | CA2653803993 | KCNQ2 | c.*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 |
20 | g.63406597A>G | CA2653803994 | KCNQ2 | c.*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 |
20 | g.63406598C>A | CA2653803996 | KCNQ2 | c.*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 |
20 | g.63406598C= | CA2374774133 | KCNQ2 | c.*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=) | |
20 | g.63406598C>T | CA1019288244 | KCNQ2 | c.*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 |
20 | g.63406599C>A | CA636340665 | KCNQ2 | c.*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 |
20 | g.63406599C= | CA2374774134 | KCNQ2 | c.*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=) | |
20 | g.63406599C>G | CA636340666 | KCNQ2 | c.*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 |
20 | g.63406599C>T | CA9958038 | KCNQ2 | c.*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 |
20 | g.63406600G>A | CA9958039 | KCNQ2 | c.*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 |
20 | g.63406600G= | CA2374774136 | KCNQ2 | c.*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=) | |
20 | g.63406600G>T | CA2374774135 | KCNQ2 | c.*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 |
20 | g.63406601T>C | CA2653804002 | KCNQ2 | c.*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 |
20 | g.63406602G>A | CA636340667 | KCNQ2 | c.*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 |
20 | g.63406602G= | CA2374774137 | KCNQ2 | c.*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=) | |
20 | g.63406602G>T | CA2653804004 | KCNQ2 | c.*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 |
20 | g.63406603C>A | CA746467611 | KCNQ2 | c.*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 |
20 | g.63406603C= | CA2374774138 | KCNQ2 | c.*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=) | |
20 | g.63406603C>G | CA2653804008 | KCNQ2 | c.*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 |
20 | g.63406603C>T | CA2653804010 | KCNQ2 | c.*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 |
20 | g.63406604T>A | CA636340668 | KCNQ2 | c.*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 |
20 | g.63406604T>C | CA2653804016 | KCNQ2 | c.*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 |
20 | g.63406604T= | CA2374774140 | KCNQ2 | c.*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=) | |
20 | g.63406604_63406607delinsTGAG | CA2374774139 | KCNQ2 | c.*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) | |
20 | g.63406605G>A | CA9958040 | KCNQ2 | c.*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 |
20 | g.63406605G= | CA2374774141 | KCNQ2 | c.*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=) | |
20 | g.63406605G>T | CA2653804024 | KCNQ2 | c.*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 |
20 | g.63406609_63406611del | CA636340669 | KCNQ2 | c.*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 |
20 | g.63406606A>G | CA2653804032 | KCNQ2 | c.*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 |
20 | g.63406607G>A | CA2374774143 | KCNQ2 | c.*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 |
20 | g.63406607G>C | CA2653804035 | KCNQ2 | c.*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 |
20 | g.63406607G= | CA2374774142 | KCNQ2 | c.*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=) | |
20 | g.63406607G>T | CA2653804038 | KCNQ2 | c.*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 |
20 | g.63406608G>A | CA636340670 | KCNQ2 | c.*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 |
20 | g.63406608G>C | CA2653804041 | KCNQ2 | c.*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 |
20 | g.63406608G= | CA2374774144 | KCNQ2 | c.*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=) | |
20 | g.63406608G>T | CA2653804040 | KCNQ2 | c.*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 |
20 | g.63406609del | CA2653804044 | KCNQ2 | c.*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 |
20 | g.63406609A>G | CA2653804045 | KCNQ2 | c.*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 |
20 | g.63406610G>A | CA2653804049 | KCNQ2 | c.*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 |
20 | g.63406610G>T | CA2653804050 | KCNQ2 | c.*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 |
20 | g.63406611G>A | CA636340671 | KCNQ2 | c.*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 |
20 | g.63406611G= | CA2374774145 | KCNQ2 | c.*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=) | |
20 | g.63406611G>T | CA2653804052 | KCNQ2 | c.*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 |
20 | g.63406612G>A | CA2653804054 | KCNQ2 | c.*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 |
20 | g.63406612G>T | CA2653804055 | KCNQ2 | c.*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 |
20 | g.63406613C>A | CA2653804056 | KCNQ2 | c.*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 |
20 | g.63406613C>T | CA2653804057 | KCNQ2 | c.*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 |
20 | g.63406614C>A | CA2653804059 | KCNQ2 | c.*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 |
20 | g.63406614C= | CA2374774146 | KCNQ2 | c.*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=) | |
20 | g.63406614C>G | CA2653804060 | KCNQ2 | c.*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 |
20 | g.63406614C>T | CA9958041 | KCNQ2 | c.*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 |
20 | g.63406615G>A | CA9958042 | KCNQ2 | c.*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 |
20 | g.63406615G= | CA2374774147 | KCNQ2 | c.*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=) | |
20 | g.63406615G>T | CA2653804065 | KCNQ2 | c.*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 |
20 | g.63406616C>A | CA636340674 | KCNQ2 | c.*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 |
20 | g.63406616C= | CA2374774148 | KCNQ2 | c.*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=) | |
20 | g.63406616C>G | CA2374774149 | KCNQ2 | c.*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 |
20 | g.63406616C>T | CA9958043 | KCNQ2 | c.*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 |
20 | g.63406617G>A | CA9958044 | KCNQ2 | c.*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 |
20 | g.63406617G>C | CA746467615 | KCNQ2 | c.*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 |
20 | g.63406617G= | CA2374774150 | KCNQ2 | c.*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=) | |
20 | g.63406617G>T | CA2653804082 | KCNQ2 | c.*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 |
20 | g.63406619del | CA2653804081 | KCNQ2 | c.*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 |
20 | g.63406618G>T | CA2653804091 | KCNQ2 | c.*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 |
20 | g.63406619G>A | CA317421391 | KCNQ2 | c.*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 |
20 | g.63406619G= | CA2374774151 | KCNQ2 | c.*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=) | |
20 | g.63406619G>T | CA2653804092 | KCNQ2 | c.*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 |
20 | g.63406619_63406620delinsGC | CA2374774152 | KCNQ2 | c.*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) | |
20 | g.63406620del | CA1019288245 | KCNQ2 | c.*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 |
20 | g.63406620C>A | CA2653804098 | KCNQ2 | c.*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 |
20 | g.63406620C= | CA2374774153 | KCNQ2 | c.*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=) | |
20 | g.63406620C>G | CA2653804099 | KCNQ2 | c.*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 |
20 | g.63406620C>T | CA9958045 | KCNQ2 | c.*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 |
20 | g.63406621G>A | CA317421400 | KCNQ2 | c.*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 |
20 | g.63406621G>C | CA636340681 | KCNQ2 | c.*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 |
20 | g.63406621G= | CA2374774154 | KCNQ2 | c.*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=) | |
20 | g.63406621G>T | CA9958046 | KCNQ2 | c.*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 |
20 | g.63406622G>A | CA317421403 | KCNQ2 | c.*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 |
20 | g.63406622G= | CA2374774155 | KCNQ2 | c.*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=) | |
20 | g.63406622G>T | CA2653804108 | KCNQ2 | c.*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 |
20 | g.63406623G>T | CA2653804111 | KCNQ2 | c.*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 |
20 | g.63406624T>A | CA2653804113 | KCNQ2 | c.*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 |
20 | g.63406624T>C | CA2653804115 | KCNQ2 | c.*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 |
20 | g.63406624T>G | CA636340684 | KCNQ2 | c.*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 |
20 | g.63406624T= | CA2374774156 | KCNQ2 | c.*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=) | |
20 | g.63406625C>A | CA2653804118 | KCNQ2 | c.*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 |
20 | g.63406625C= | CA2374774157 | KCNQ2 | c.*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=) | |
20 | g.63406625C>G | CA746467623 | KCNQ2 | c.*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 |
20 | g.63406626C>A | CA2653804120 | KCNQ2 | c.*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 |
20 | g.63406626C>T | CA2653804121 | KCNQ2 | c.*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 |
20 | g.63406627A>G | CA2653804126 | KCNQ2 | c.*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 |
20 | g.63406628C>A | CA2653804128 | KCNQ2 | c.*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 |
20 | g.63406628C>G | CA2577453406 | KCNQ2 | c.*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) | |
20 | g.63406628C>T | CA2653804130 | KCNQ2 | c.*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 |
20 | g.63406629T>A | CA2653804133 | KCNQ2 | c.*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 |
20 | g.63406629T>C | CA636614155 | KCNQ2 | c.*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 |
20 | g.63406629T= | CA2374774158 | KCNQ2 | c.*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=) | |
20 | g.63406630G>A | CA2653804143 | KCNQ2 | c.*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 |
20 | g.63406630G>T | CA2653804145 | KCNQ2 | c.*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 |
20 | g.63406631del | CA2653804140 | KCNQ2 | c.*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 |
20 | g.63406638_63406666del | CA2653804141 | KCNQ2 | c.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 |
20 | g.63406631G>A | CA2653804146 | KCNQ2 | c.*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 |
20 | g.63406631G= | CA2374774159 | KCNQ2 | c.*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=) | |
20 | g.63406631G>T | CA1019288246 | KCNQ2 | c.*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 |
20 | g.63406632C>A | CA2653804152 | KCNQ2 | c.*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 |
20 | g.63406632C= | CA2374774160 | KCNQ2 | c.*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=) | |
20 | g.63406632C>T | CA9958047 | KCNQ2 | c.*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 |
20 | g.63406634C>A | CA2653804162 | KCNQ2 | c.*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 |
20 | g.63406634C>T | CA2653804165 | KCNQ2 | c.*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 |
20 | g.63406635A>G | CA2653804167 | KCNQ2 | c.*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 |
20 | g.63406635A>T | CA2842871697 | KCNQ2 | c.*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) | |
20 | g.63406636G>A | CA2653804170 | KCNQ2 | c.*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 |
20 | g.63406636G>C | CA2653804173 | KCNQ2 | c.*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 |
20 | g.63406637C>A | CA636614156 | KCNQ2 | c.*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 |
20 | g.63406637C= | CA2374774161 | KCNQ2 | c.*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=) | |
20 | g.63406637C>T | CA9958048 | KCNQ2 | c.*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 |
20 | g.63406638G>A | CA9958049 | KCNQ2 | c.*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 |
20 | g.63406638G= | CA2374774162 | KCNQ2 | c.*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=) | |
20 | g.63406638G>T | CA2653804183 | KCNQ2 | c.*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 |
20 | g.63406639C>T | CA2653804185 | KCNQ2 | c.*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 |
20 | g.63406640C>A | CA2653804189 | KCNQ2 | c.*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 |
20 | g.63406640C= | CA2374774163 | KCNQ2 | c.*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=) | |
20 | g.63406640C>T | CA234144 | KCNQ2 | c.*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 |
20 | g.63406641G>A | CA9958050 | KCNQ2 | c.*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 |
20 | g.63406641G= | CA2374774164 | KCNQ2 | c.*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=) | |
20 | g.63406641G>T | CA2653804203 | KCNQ2 | c.*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 |
20 | g.63406642_63406644delinsCCT | CA2374774165 | KCNQ2 | c.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=]) | |
20 | g.63406643C>A | CA2653804209 | KCNQ2 | c.*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 |
20 | g.63406643C>T | CA2653804211 | KCNQ2 | c.*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 |
20 | g.63406644_63406645del | CA2374774166 | KCNQ2 | c.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 |
20 | g.63406644T>A | CA409636267 | KCNQ2 | c.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) | |
20 | g.63406644T>C | CA409636265 | KCNQ2 | c.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) | |
20 | g.63406644T>G | CA409636260 | KCNQ2 | c.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) | |
20 | g.63406645C>A | CA409636271 | KCNQ2 | c.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) | |
20 | g.63406645C= | CA2374774167 | KCNQ2 | c.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=) | |
20 | g.63406645C>G | CA409636274 | KCNQ2 | c.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) | |
20 | g.63406645C>T | CA511339163 | KCNQ2 | c.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 |
20 | g.63406646A>C | CA409636276 | KCNQ2 | c.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) | |
20 | g.63406646A>G | CA409636281 | KCNQ2 | c.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) | |
20 | g.63406646A>T | CA409636278 | KCNQ2 | c.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) | |
20 | g.63406647C>A | CA409636284 | KCNQ2 | c.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) | |
20 | g.63406647C= | CA2374774168 | KCNQ2 | c.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=) | |
20 | g.63406647C>G | CA409636286 | KCNQ2 | c.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 |
20 | g.63406647C>T | CA511339164 | KCNQ2 | c.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 |
20 | g.63406648T>A | CA409636289 | KCNQ2 | c.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) | |
20 | g.63406648T>C | CA409636291 | KCNQ2 | c.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) | |
20 | g.63406648T>G | CA409636293 | KCNQ2 | c.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 |
20 | g.63406648_63406653delinsTTCCTG | CA2374774169 | KCNQ2 | c.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=) | |
20 | g.63406649T>A | CA409636299 | KCNQ2 | c.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) | |
20 | g.63406649T>C | CA409636301 | KCNQ2 | c.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) | |
20 | g.63406649T>G | CA409636305 | KCNQ2 | c.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) | |
20 | g.63406649_63406653del | CA2374774170 | KCNQ2 | c.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 |
20 | g.63406650C>A | CA288935 | KCNQ2 | c.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 |
20 | g.63406650C= | CA2374774171 | KCNQ2 | c.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=) | |
20 | g.63406650C>G | CA409636308 | KCNQ2 | c.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) | |
20 | g.63406650C>T | CA511339165 | KCNQ2 | c.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=) | |
20 | g.63406651C>A | CA409636312 | KCNQ2 | c.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) | |
20 | g.63406651C= | CA2374774172 | KCNQ2 | c.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=) | |
20 | g.63406651C>G | CA409636314 | KCNQ2 | c.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) | |
20 | g.63406651C>T | CA409636316 | KCNQ2 | c.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 |
20 | g.63406652T>A | CA409636318 | KCNQ2 | c.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) | |
20 | g.63406652T>C | CA317421425 | KCNQ2 | c.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 |
20 | g.63406652T>G | CA511339166 | KCNQ2 | c.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=) | |
20 | g.63406652T= | CA2374774173 | KCNQ2 | c.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=) | |
20 | g.63406653G>A | CA511339169 | KCNQ2 | c.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 |
20 | g.63406653G>C | CA511339167 | KCNQ2 | c.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=) | |
20 | g.63406653G= | CA2374774174 | KCNQ2 | c.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=) | |
20 | g.63406653G>T | CA511339168 | KCNQ2 | c.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 |
20 | g.63406654G>A | CA409636329 | KCNQ2 | c.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) | |
20 | g.63406654G>C | CA317421442 | KCNQ2 | c.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 |
20 | g.63406654G= | CA2374774175 | KCNQ2 | c.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=) | |
20 | g.63406654G>T | CA409636333 | KCNQ2 | c.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 |
20 | g.63406659_63406663dup | CA342497 | KCNQ2 | c.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 |
20 | g.63406655G>A | CA409636340 | KCNQ2 | c.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 |
20 | g.63406655G>C | CA409636344 | KCNQ2 | c.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) | |
20 | g.63406655G>T | CA409636346 | KCNQ2 | c.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 |
20 | g.63406656C>A | CA511339170 | KCNQ2 | c.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 |
20 | g.63406656C= | CA2374774176 | KCNQ2 | c.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=) | |
20 | g.63406656C>G | CA511339171 | KCNQ2 | c.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 |
20 | g.63406656C>T | CA511339172 | KCNQ2 | c.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 |
20 | g.63406658del | CA2739277251 | KCNQ2 | c.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 |
20 | g.63406657C>A | CA317421445 | KCNQ2 | c.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 |
20 | g.63406657C= | CA2374774177 | KCNQ2 | c.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=) | |
20 | g.63406657C>G | CA409636351 | KCNQ2 | c.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) | |
20 | g.63406657C>T | CA409636355 | KCNQ2 | c.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 |
20 | g.63406658C>A | CA317421463 | KCNQ2 | c.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 |
20 | g.63406658C= | CA2374774178 | KCNQ2 | c.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=) | |
20 | g.63406658C>G | CA409636360 | KCNQ2 | c.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) | |
20 | g.63406658C>T | CA409636358 | KCNQ2 | c.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 |
20 | g.63406658_63406659insACT | CA2374774179 | KCNQ2 | c.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 |
20 | g.63406659G>A | CA9958051 | KCNQ2 | c.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 |
20 | g.63406659G>C | CA511339173 | KCNQ2 | c.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=) | |
20 | g.63406659G= | CA2374774180 | KCNQ2 | c.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=) | |
20 | g.63406659G>T | CA511339174 | KCNQ2 | c.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 |
20 | g.63406660G>A | CA409636366 | KCNQ2 | c.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 |
20 | g.63406660G>C | CA409636369 | KCNQ2 | c.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) | |
20 | g.63406660G>T | CA409636371 | KCNQ2 | c.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 |
20 | g.63406665_63406669dup | CA10654777 | KCNQ2 | c.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 |
20 | g.63406661C>A | CA409636376 | KCNQ2 | c.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 |
20 | g.63406661C= | CA2374774181 | KCNQ2 | c.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=) | |
20 | g.63406661C>G | CA9958052 | KCNQ2 | c.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 |
20 | g.63406661C>T | CA409636374 | KCNQ2 | c.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 |
20 | g.63406662C>A | CA409636379 | KCNQ2 | c.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) | |
20 | g.63406662C>G | CA409636381 | KCNQ2 | c.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) | |
20 | g.63406662C>T | CA409636383 | KCNQ2 | c.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 |
20 | g.63406663C>A | CA409636384 | KCNQ2 | c.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 |
20 | g.63406663C>G | CA409636385 | KCNQ2 | c.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) | |
20 | g.63406663C>T | CA409636387 | KCNQ2 | c.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) | |
20 | g.63406664A= | CA2374774182 | KCNQ2 | c.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=) | |
20 | g.63406664A>C | CA409636389 | KCNQ2 | c.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) | |
20 | g.63406664A>G | CA409636393 | KCNQ2 | c.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 |
20 | g.63406664A>T | CA409636391 | KCNQ2 | c.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) | |
20 | g.63406665G>A | CA511339177 | KCNQ2 | c.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 |
20 | g.63406665G>C | CA511339176 | KCNQ2 | c.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=) | |
20 | g.63406665G>T | CA511339175 | KCNQ2 | c.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 |
20 | g.63406665_63406666delinsGC | CA2374774183 | KCNQ2 | c.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=) | |
20 | g.63406666C>A | CA409636395 | KCNQ2 | c.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 |
20 | g.63406666C>G | CA409636396 | KCNQ2 | c.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) | |
20 | g.63406666C>T | CA409636398 | KCNQ2 | c.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 |
20 | g.63406668del | CA342495 | KCNQ2 | c.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 |
20 | g.63406667C>A | CA409636401 | KCNQ2 | c.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 |
20 | g.63406667C>G | CA409636403 | KCNQ2 | c.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) | |
20 | g.63406667C>T | CA409636405 | KCNQ2 | c.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 |
20 | g.63406668C>A | CA511339178 | KCNQ2 | c.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 |
20 | g.63406668C>G | CA511339179 | KCNQ2 | c.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=) | |
20 | g.63406668C>T | CA511339180 | KCNQ2 | c.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=) | |
20 | g.63406669A= | CA2374774184 | KCNQ2 | c.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=) | |
20 | g.63406669A>C | CA9958053 | KCNQ2 | c.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 |
20 | g.63406669A>G | CA409636407 | KCNQ2 | c.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) | |
20 | g.63406669A>T | CA409636408 | KCNQ2 | c.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) | |
20 | g.63406670C>A | CA409636413 | KCNQ2 | c.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) | |
20 | g.63406670C= | CA2374774185 | KCNQ2 | c.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=) | |
20 | g.63406670C>G | CA409636410 | KCNQ2 | c.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 |
20 | g.63406670C>T | CA317421518 | KCNQ2 | c.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 |
20 | g.63406671G>A | CA9958054 | KCNQ2 | c.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 |
20 | g.63406671G>C | CA409636417 | KCNQ2 | c.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) | |
20 | g.63406671G= | CA2374774186 | KCNQ2 | c.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=) | |
20 | g.63406671G>T | CA409636415 | KCNQ2 | c.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 |
20 | g.63406672T>A | CA409636419 | KCNQ2 | c.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) | |
20 | g.63406672T>C | CA409636421 | KCNQ2 | c.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) | |
20 | g.63406672T>G | CA409636423 | KCNQ2 | c.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) | |
20 | g.63406673C>A | CA409636425 | KCNQ2 | c.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 |
20 | g.63406673C>G | CA409636426 | KCNQ2 | c.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) | |
20 | g.63406673C>T | CA409636428 | KCNQ2 | c.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) |