Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63406889_63407267del | CA2739277253 | KCNQ2 | c.2053_2431del (p.Ala685TrpfsTer?) c.1999_2377del (p.Ala667TrpfsTer?) c.1396_1774del (p.Ala466TrpfsTer?) c.1906_2284del (p.Ala636TrpfsTer?) c.1567_1945del (p.Ala523TrpfsTer?) c.1915_2293del (p.Ala639TrpfsTer?) c.2023_2241+160del c.1987_2205+160del c.1945_2323del (p.Ala649TrpfsTer?) c.1915_2133+160del c.1679+6186_1680-6043del (n.1679+6186_1680-6043del) c.2041_2419del (p.Ala681TrpfsTer?) c.2107_2485del (p.Ala703TrpfsTer?) c.2104_2482del (p.Ala702TrpfsTer?) c.2077_2455del (p.Ala693TrpfsTer?) c.2023_2401del (p.Ala675TrpfsTer?) c.1996_2374del (p.Ala666TrpfsTer?) c.1981_2359del (p.Ala661TrpfsTer?) c.1588_1966del (p.Ala530TrpfsTer?) c.2050_2428del (p.Ala684TrpfsTer?) c.1987_2365del (p.Ala663TrpfsTer?) c.1984_2362del (p.Ala662TrpfsTer?) c.1942_2320del (p.Ala648TrpfsTer?) c.1015_1393del (p.Ala339TrpfsTer?) | ClinVar |
20 | g.63407202G>A | CA317422366 | KCNQ2 | c.2115C>T (p.Val705=) c.2061C>T (p.Val687=) c.1458C>T (p.Val486=) c.1968C>T (p.Val656=) c.1629C>T (p.Val543=) c.1977C>T (p.Val659=) c.2085C>T (p.Val695=) c.2049C>T (p.Val683=) c.2007C>T (p.Val669=) c.1679+6248C>T (n.1679+6248C>T) c.2103C>T (p.Val701=) c.2169C>T (p.Val723=) c.2166C>T (p.Val722=) c.2139C>T (p.Val713=) c.2058C>T (p.Val686=) c.2043C>T (p.Val681=) c.1650C>T (p.Val550=) c.2112C>T (p.Val704=) c.2046C>T (p.Val682=) c.2004C>T (p.Val668=) c.1077C>T (p.Val359=) | ClinVar dbSNP gnomAD v4 |
20 | g.63407202G>C | CA511339405 | KCNQ2 | c.2115C>G (p.Val705=) c.2061C>G (p.Val687=) c.1458C>G (p.Val486=) c.1968C>G (p.Val656=) c.1629C>G (p.Val543=) c.1977C>G (p.Val659=) c.2085C>G (p.Val695=) c.2049C>G (p.Val683=) c.2007C>G (p.Val669=) c.1679+6248C>G (n.1679+6248C>G) c.2103C>G (p.Val701=) c.2169C>G (p.Val723=) c.2166C>G (p.Val722=) c.2139C>G (p.Val713=) c.2058C>G (p.Val686=) c.2043C>G (p.Val681=) c.1650C>G (p.Val550=) c.2112C>G (p.Val704=) c.2046C>G (p.Val682=) c.2004C>G (p.Val668=) c.1077C>G (p.Val359=) | |
20 | g.63407202G= | CA2374774485 | KCNQ2 | c.2115C= (p.Val705=) c.2061C= (p.Val687=) c.1458C= (p.Val486=) c.1968C= (p.Val656=) c.1629C= (p.Val543=) c.1977C= (p.Val659=) c.2085C= (p.Val695=) c.2049C= (p.Val683=) c.2007C= (p.Val669=) c.1679+6248C= (n.1679+6248C=) c.2103C= (p.Val701=) c.2169C= (p.Val723=) c.2166C= (p.Val722=) c.2139C= (p.Val713=) c.2058C= (p.Val686=) c.2043C= (p.Val681=) c.1650C= (p.Val550=) c.2112C= (p.Val704=) c.2046C= (p.Val682=) c.2004C= (p.Val668=) c.1077C= (p.Val359=) | |
20 | g.63407202G>T | CA511339404 | KCNQ2 | c.2115C>A (p.Val705=) c.2061C>A (p.Val687=) c.1458C>A (p.Val486=) c.1968C>A (p.Val656=) c.1629C>A (p.Val543=) c.1977C>A (p.Val659=) c.2085C>A (p.Val695=) c.2049C>A (p.Val683=) c.2007C>A (p.Val669=) c.1679+6248C>A (n.1679+6248C>A) c.2103C>A (p.Val701=) c.2169C>A (p.Val723=) c.2166C>A (p.Val722=) c.2139C>A (p.Val713=) c.2058C>A (p.Val686=) c.2043C>A (p.Val681=) c.1650C>A (p.Val550=) c.2112C>A (p.Val704=) c.2046C>A (p.Val682=) c.2004C>A (p.Val668=) c.1077C>A (p.Val359=) | gnomAD v4 |
20 | g.63407203A>C | CA409639075 | KCNQ2 | c.2114T>G (p.Val705Gly) c.2060T>G (p.Val687Gly) c.1457T>G (p.Val486Gly) c.1967T>G (p.Val656Gly) c.1628T>G (p.Val543Gly) c.1976T>G (p.Val659Gly) c.2084T>G (p.Val695Gly) c.2048T>G (p.Val683Gly) c.2006T>G (p.Val669Gly) c.1679+6247T>G (n.1679+6247T>G) c.2102T>G (p.Val701Gly) c.2168T>G (p.Val723Gly) c.2165T>G (p.Val722Gly) c.2138T>G (p.Val713Gly) c.2057T>G (p.Val686Gly) c.2042T>G (p.Val681Gly) c.1649T>G (p.Val550Gly) c.2111T>G (p.Val704Gly) c.2045T>G (p.Val682Gly) c.2003T>G (p.Val668Gly) c.1076T>G (p.Val359Gly) | |
20 | g.63407203A>G | CA409639077 | KCNQ2 | c.2114T>C (p.Val705Ala) c.2060T>C (p.Val687Ala) c.1457T>C (p.Val486Ala) c.1967T>C (p.Val656Ala) c.1628T>C (p.Val543Ala) c.1976T>C (p.Val659Ala) c.2084T>C (p.Val695Ala) c.2048T>C (p.Val683Ala) c.2006T>C (p.Val669Ala) c.1679+6247T>C (n.1679+6247T>C) c.2102T>C (p.Val701Ala) c.2168T>C (p.Val723Ala) c.2165T>C (p.Val722Ala) c.2138T>C (p.Val713Ala) c.2057T>C (p.Val686Ala) c.2042T>C (p.Val681Ala) c.1649T>C (p.Val550Ala) c.2111T>C (p.Val704Ala) c.2045T>C (p.Val682Ala) c.2003T>C (p.Val668Ala) c.1076T>C (p.Val359Ala) | |
20 | g.63407203A>T | CA409639076 | KCNQ2 | c.2114T>A (p.Val705Asp) c.2060T>A (p.Val687Asp) c.1457T>A (p.Val486Asp) c.1967T>A (p.Val656Asp) c.1628T>A (p.Val543Asp) c.1976T>A (p.Val659Asp) c.2084T>A (p.Val695Asp) c.2048T>A (p.Val683Asp) c.2006T>A (p.Val669Asp) c.1679+6247T>A (n.1679+6247T>A) c.2102T>A (p.Val701Asp) c.2168T>A (p.Val723Asp) c.2165T>A (p.Val722Asp) c.2138T>A (p.Val713Asp) c.2057T>A (p.Val686Asp) c.2042T>A (p.Val681Asp) c.1649T>A (p.Val550Asp) c.2111T>A (p.Val704Asp) c.2045T>A (p.Val682Asp) c.2003T>A (p.Val668Asp) c.1076T>A (p.Val359Asp) | |
20 | g.63407204C>A | CA409639078 | KCNQ2 | c.2113G>T (p.Val705Phe) c.2059G>T (p.Val687Phe) c.1456G>T (p.Val486Phe) c.1966G>T (p.Val656Phe) c.1627G>T (p.Val543Phe) c.1975G>T (p.Val659Phe) c.2083G>T (p.Val695Phe) c.2047G>T (p.Val683Phe) c.2005G>T (p.Val669Phe) c.1679+6246G>T (n.1679+6246G>T) c.2101G>T (p.Val701Phe) c.2167G>T (p.Val723Phe) c.2164G>T (p.Val722Phe) c.2137G>T (p.Val713Phe) c.2056G>T (p.Val686Phe) c.2041G>T (p.Val681Phe) c.1648G>T (p.Val550Phe) c.2110G>T (p.Val704Phe) c.2044G>T (p.Val682Phe) c.2002G>T (p.Val668Phe) c.1075G>T (p.Val359Phe) | |
20 | g.63407204C>G | CA409639079 | KCNQ2 | c.2113G>C (p.Val705Leu) c.2059G>C (p.Val687Leu) c.1456G>C (p.Val486Leu) c.1966G>C (p.Val656Leu) c.1627G>C (p.Val543Leu) c.1975G>C (p.Val659Leu) c.2083G>C (p.Val695Leu) c.2047G>C (p.Val683Leu) c.2005G>C (p.Val669Leu) c.1679+6246G>C (n.1679+6246G>C) c.2101G>C (p.Val701Leu) c.2167G>C (p.Val723Leu) c.2164G>C (p.Val722Leu) c.2137G>C (p.Val713Leu) c.2056G>C (p.Val686Leu) c.2041G>C (p.Val681Leu) c.1648G>C (p.Val550Leu) c.2110G>C (p.Val704Leu) c.2044G>C (p.Val682Leu) c.2002G>C (p.Val668Leu) c.1075G>C (p.Val359Leu) | |
20 | g.63407204C>T | CA409639080 | KCNQ2 | c.2113G>A (p.Val705Ile) c.2059G>A (p.Val687Ile) c.1456G>A (p.Val486Ile) c.1966G>A (p.Val656Ile) c.1627G>A (p.Val543Ile) c.1975G>A (p.Val659Ile) c.2083G>A (p.Val695Ile) c.2047G>A (p.Val683Ile) c.2005G>A (p.Val669Ile) c.1679+6246G>A (n.1679+6246G>A) c.2101G>A (p.Val701Ile) c.2167G>A (p.Val723Ile) c.2164G>A (p.Val722Ile) c.2137G>A (p.Val713Ile) c.2056G>A (p.Val686Ile) c.2041G>A (p.Val681Ile) c.1648G>A (p.Val550Ile) c.2110G>A (p.Val704Ile) c.2044G>A (p.Val682Ile) c.2002G>A (p.Val668Ile) c.1075G>A (p.Val359Ile) | gnomAD v4 |
20 | g.63407205A= | CA2374774486 | KCNQ2 | c.2112T= (p.Ile704=) c.2058T= (p.Ile686=) c.1455T= (p.Ile485=) c.1965T= (p.Ile655=) c.1626T= (p.Ile542=) c.1974T= (p.Ile658=) c.2082T= (p.Ile694=) c.2046T= (p.Ile682=) c.2004T= (p.Ile668=) c.1679+6245T= (n.1679+6245T=) c.2100T= (p.Ile700=) c.2166T= (p.Ile722=) c.2163T= (p.Ile721=) c.2136T= (p.Ile712=) c.2055T= (p.Ile685=) c.2040T= (p.Ile680=) c.1647T= (p.Ile549=) c.2109T= (p.Ile703=) c.2043T= (p.Ile681=) c.2001T= (p.Ile667=) c.1074T= (p.Ile358=) | |
20 | g.63407205A>C | CA409639081 | KCNQ2 | c.2112T>G (p.Ile704Met) c.2058T>G (p.Ile686Met) c.1455T>G (p.Ile485Met) c.1965T>G (p.Ile655Met) c.1626T>G (p.Ile542Met) c.1974T>G (p.Ile658Met) c.2082T>G (p.Ile694Met) c.2046T>G (p.Ile682Met) c.2004T>G (p.Ile668Met) c.1679+6245T>G (n.1679+6245T>G) c.2100T>G (p.Ile700Met) c.2166T>G (p.Ile722Met) c.2163T>G (p.Ile721Met) c.2136T>G (p.Ile712Met) c.2055T>G (p.Ile685Met) c.2040T>G (p.Ile680Met) c.1647T>G (p.Ile549Met) c.2109T>G (p.Ile703Met) c.2043T>G (p.Ile681Met) c.2001T>G (p.Ile667Met) c.1074T>G (p.Ile358Met) | |
20 | g.63407205A>G | CA511339408 | KCNQ2 | c.2112T>C (p.Ile704=) c.2058T>C (p.Ile686=) c.1455T>C (p.Ile485=) c.1965T>C (p.Ile655=) c.1626T>C (p.Ile542=) c.1974T>C (p.Ile658=) c.2082T>C (p.Ile694=) c.2046T>C (p.Ile682=) c.2004T>C (p.Ile668=) c.1679+6245T>C (n.1679+6245T>C) c.2100T>C (p.Ile700=) c.2166T>C (p.Ile722=) c.2163T>C (p.Ile721=) c.2136T>C (p.Ile712=) c.2055T>C (p.Ile685=) c.2040T>C (p.Ile680=) c.1647T>C (p.Ile549=) c.2109T>C (p.Ile703=) c.2043T>C (p.Ile681=) c.2001T>C (p.Ile667=) c.1074T>C (p.Ile358=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407205A>T | CA511339407 | KCNQ2 | c.2112T>A (p.Ile704=) c.2058T>A (p.Ile686=) c.1455T>A (p.Ile485=) c.1965T>A (p.Ile655=) c.1626T>A (p.Ile542=) c.1974T>A (p.Ile658=) c.2082T>A (p.Ile694=) c.2046T>A (p.Ile682=) c.2004T>A (p.Ile668=) c.1679+6245T>A (n.1679+6245T>A) c.2100T>A (p.Ile700=) c.2166T>A (p.Ile722=) c.2163T>A (p.Ile721=) c.2136T>A (p.Ile712=) c.2055T>A (p.Ile685=) c.2040T>A (p.Ile680=) c.1647T>A (p.Ile549=) c.2109T>A (p.Ile703=) c.2043T>A (p.Ile681=) c.2001T>A (p.Ile667=) c.1074T>A (p.Ile358=) | |
20 | g.63407206A>C | CA409639082 | KCNQ2 | c.2111T>G (p.Ile704Ser) c.2057T>G (p.Ile686Ser) c.1454T>G (p.Ile485Ser) c.1964T>G (p.Ile655Ser) c.1625T>G (p.Ile542Ser) c.1973T>G (p.Ile658Ser) c.2081T>G (p.Ile694Ser) c.2045T>G (p.Ile682Ser) c.2003T>G (p.Ile668Ser) c.1679+6244T>G (n.1679+6244T>G) c.2099T>G (p.Ile700Ser) c.2165T>G (p.Ile722Ser) c.2162T>G (p.Ile721Ser) c.2135T>G (p.Ile712Ser) c.2054T>G (p.Ile685Ser) c.2039T>G (p.Ile680Ser) c.1646T>G (p.Ile549Ser) c.2108T>G (p.Ile703Ser) c.2042T>G (p.Ile681Ser) c.2000T>G (p.Ile667Ser) c.1073T>G (p.Ile358Ser) | |
20 | g.63407206A>G | CA409639084 | KCNQ2 | c.2111T>C (p.Ile704Thr) c.2057T>C (p.Ile686Thr) c.1454T>C (p.Ile485Thr) c.1964T>C (p.Ile655Thr) c.1625T>C (p.Ile542Thr) c.1973T>C (p.Ile658Thr) c.2081T>C (p.Ile694Thr) c.2045T>C (p.Ile682Thr) c.2003T>C (p.Ile668Thr) c.1679+6244T>C (n.1679+6244T>C) c.2099T>C (p.Ile700Thr) c.2165T>C (p.Ile722Thr) c.2162T>C (p.Ile721Thr) c.2135T>C (p.Ile712Thr) c.2054T>C (p.Ile685Thr) c.2039T>C (p.Ile680Thr) c.1646T>C (p.Ile549Thr) c.2108T>C (p.Ile703Thr) c.2042T>C (p.Ile681Thr) c.2000T>C (p.Ile667Thr) c.1073T>C (p.Ile358Thr) | |
20 | g.63407206A>T | CA409639083 | KCNQ2 | c.2111T>A (p.Ile704Asn) c.2057T>A (p.Ile686Asn) c.1454T>A (p.Ile485Asn) c.1964T>A (p.Ile655Asn) c.1625T>A (p.Ile542Asn) c.1973T>A (p.Ile658Asn) c.2081T>A (p.Ile694Asn) c.2045T>A (p.Ile682Asn) c.2003T>A (p.Ile668Asn) c.1679+6244T>A (n.1679+6244T>A) c.2099T>A (p.Ile700Asn) c.2165T>A (p.Ile722Asn) c.2162T>A (p.Ile721Asn) c.2135T>A (p.Ile712Asn) c.2054T>A (p.Ile685Asn) c.2039T>A (p.Ile680Asn) c.1646T>A (p.Ile549Asn) c.2108T>A (p.Ile703Asn) c.2042T>A (p.Ile681Asn) c.2000T>A (p.Ile667Asn) c.1073T>A (p.Ile358Asn) | |
20 | g.63407207T>A | CA409639085 | KCNQ2 | c.2110A>T (p.Ile704Phe) c.2056A>T (p.Ile686Phe) c.1453A>T (p.Ile485Phe) c.1963A>T (p.Ile655Phe) c.1624A>T (p.Ile542Phe) c.1972A>T (p.Ile658Phe) c.2080A>T (p.Ile694Phe) c.2044A>T (p.Ile682Phe) c.2002A>T (p.Ile668Phe) c.1679+6243A>T (n.1679+6243A>T) c.2098A>T (p.Ile700Phe) c.2164A>T (p.Ile722Phe) c.2161A>T (p.Ile721Phe) c.2134A>T (p.Ile712Phe) c.2053A>T (p.Ile685Phe) c.2038A>T (p.Ile680Phe) c.1645A>T (p.Ile549Phe) c.2107A>T (p.Ile703Phe) c.2041A>T (p.Ile681Phe) c.1999A>T (p.Ile667Phe) c.1072A>T (p.Ile358Phe) | |
20 | g.63407207T>C | CA9958160 | KCNQ2 | c.2110A>G (p.Ile704Val) c.2056A>G (p.Ile686Val) c.1453A>G (p.Ile485Val) c.1963A>G (p.Ile655Val) c.1624A>G (p.Ile542Val) c.1972A>G (p.Ile658Val) c.2080A>G (p.Ile694Val) c.2044A>G (p.Ile682Val) c.2002A>G (p.Ile668Val) c.1679+6243A>G (n.1679+6243A>G) c.2098A>G (p.Ile700Val) c.2164A>G (p.Ile722Val) c.2161A>G (p.Ile721Val) c.2134A>G (p.Ile712Val) c.2053A>G (p.Ile685Val) c.2038A>G (p.Ile680Val) c.1645A>G (p.Ile549Val) c.2107A>G (p.Ile703Val) c.2041A>G (p.Ile681Val) c.1999A>G (p.Ile667Val) c.1072A>G (p.Ile358Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407207T>G | CA409639086 | KCNQ2 | c.2110A>C (p.Ile704Leu) c.2056A>C (p.Ile686Leu) c.1453A>C (p.Ile485Leu) c.1963A>C (p.Ile655Leu) c.1624A>C (p.Ile542Leu) c.1972A>C (p.Ile658Leu) c.2080A>C (p.Ile694Leu) c.2044A>C (p.Ile682Leu) c.2002A>C (p.Ile668Leu) c.1679+6243A>C (n.1679+6243A>C) c.2098A>C (p.Ile700Leu) c.2164A>C (p.Ile722Leu) c.2161A>C (p.Ile721Leu) c.2134A>C (p.Ile712Leu) c.2053A>C (p.Ile685Leu) c.2038A>C (p.Ile680Leu) c.1645A>C (p.Ile549Leu) c.2107A>C (p.Ile703Leu) c.2041A>C (p.Ile681Leu) c.1999A>C (p.Ile667Leu) c.1072A>C (p.Ile358Leu) | |
20 | g.63407207T= | CA2374774487 | KCNQ2 | c.2110A= (p.Ile704=) c.2056A= (p.Ile686=) c.1453A= (p.Ile485=) c.1963A= (p.Ile655=) c.1624A= (p.Ile542=) c.1972A= (p.Ile658=) c.2080A= (p.Ile694=) c.2044A= (p.Ile682=) c.2002A= (p.Ile668=) c.1679+6243A= (n.1679+6243A=) c.2098A= (p.Ile700=) c.2164A= (p.Ile722=) c.2161A= (p.Ile721=) c.2134A= (p.Ile712=) c.2053A= (p.Ile685=) c.2038A= (p.Ile680=) c.1645A= (p.Ile549=) c.2107A= (p.Ile703=) c.2041A= (p.Ile681=) c.1999A= (p.Ile667=) c.1072A= (p.Ile358=) | |
20 | g.63407208G>A | CA511339410 | KCNQ2 | c.2109C>T (p.Cys703=) c.2055C>T (p.Cys685=) c.1452C>T (p.Cys484=) c.1962C>T (p.Cys654=) c.1623C>T (p.Cys541=) c.1971C>T (p.Cys657=) c.2079C>T (p.Cys693=) c.2043C>T (p.Cys681=) c.2001C>T (p.Cys667=) c.1679+6242C>T (n.1679+6242C>T) c.2097C>T (p.Cys699=) c.2163C>T (p.Cys721=) c.2160C>T (p.Cys720=) c.2133C>T (p.Cys711=) c.2052C>T (p.Cys684=) c.2037C>T (p.Cys679=) c.1644C>T (p.Cys548=) c.2106C>T (p.Cys702=) c.2040C>T (p.Cys680=) c.1998C>T (p.Cys666=) c.1071C>T (p.Cys357=) | gnomAD v4 |
20 | g.63407208G>C | CA409639087 | KCNQ2 | c.2109C>G (p.Cys703Trp) c.2055C>G (p.Cys685Trp) c.1452C>G (p.Cys484Trp) c.1962C>G (p.Cys654Trp) c.1623C>G (p.Cys541Trp) c.1971C>G (p.Cys657Trp) c.2079C>G (p.Cys693Trp) c.2043C>G (p.Cys681Trp) c.2001C>G (p.Cys667Trp) c.1679+6242C>G (n.1679+6242C>G) c.2097C>G (p.Cys699Trp) c.2163C>G (p.Cys721Trp) c.2160C>G (p.Cys720Trp) c.2133C>G (p.Cys711Trp) c.2052C>G (p.Cys684Trp) c.2037C>G (p.Cys679Trp) c.1644C>G (p.Cys548Trp) c.2106C>G (p.Cys702Trp) c.2040C>G (p.Cys680Trp) c.1998C>G (p.Cys666Trp) c.1071C>G (p.Cys357Trp) | |
20 | g.63407208G>T | CA409639088 | KCNQ2 | c.2109C>A (p.Cys703Ter) c.2055C>A (p.Cys685Ter) c.1452C>A (p.Cys484Ter) c.1962C>A (p.Cys654Ter) c.1623C>A (p.Cys541Ter) c.1971C>A (p.Cys657Ter) c.2079C>A (p.Cys693Ter) c.2043C>A (p.Cys681Ter) c.2001C>A (p.Cys667Ter) c.1679+6242C>A (n.1679+6242C>A) c.2097C>A (p.Cys699Ter) c.2163C>A (p.Cys721Ter) c.2160C>A (p.Cys720Ter) c.2133C>A (p.Cys711Ter) c.2052C>A (p.Cys684Ter) c.2037C>A (p.Cys679Ter) c.1644C>A (p.Cys548Ter) c.2106C>A (p.Cys702Ter) c.2040C>A (p.Cys680Ter) c.1998C>A (p.Cys666Ter) c.1071C>A (p.Cys357Ter) | gnomAD v4 |
20 | g.63407209C>A | CA409639089 | KCNQ2 | c.2108G>T (p.Cys703Phe) c.2054G>T (p.Cys685Phe) c.1451G>T (p.Cys484Phe) c.1961G>T (p.Cys654Phe) c.1622G>T (p.Cys541Phe) c.1970G>T (p.Cys657Phe) c.2078G>T (p.Cys693Phe) c.2042G>T (p.Cys681Phe) c.2000G>T (p.Cys667Phe) c.1679+6241G>T (n.1679+6241G>T) c.2096G>T (p.Cys699Phe) c.2162G>T (p.Cys721Phe) c.2159G>T (p.Cys720Phe) c.2132G>T (p.Cys711Phe) c.2051G>T (p.Cys684Phe) c.2036G>T (p.Cys679Phe) c.1643G>T (p.Cys548Phe) c.2105G>T (p.Cys702Phe) c.2039G>T (p.Cys680Phe) c.1997G>T (p.Cys666Phe) c.1070G>T (p.Cys357Phe) | gnomAD v4 |
20 | g.63407209C= | CA2374774488 | KCNQ2 | c.2108G= (p.Cys703=) c.2054G= (p.Cys685=) c.1451G= (p.Cys484=) c.1961G= (p.Cys654=) c.1622G= (p.Cys541=) c.1970G= (p.Cys657=) c.2078G= (p.Cys693=) c.2042G= (p.Cys681=) c.2000G= (p.Cys667=) c.1679+6241G= (n.1679+6241G=) c.2096G= (p.Cys699=) c.2162G= (p.Cys721=) c.2159G= (p.Cys720=) c.2132G= (p.Cys711=) c.2051G= (p.Cys684=) c.2036G= (p.Cys679=) c.1643G= (p.Cys548=) c.2105G= (p.Cys702=) c.2039G= (p.Cys680=) c.1997G= (p.Cys666=) c.1070G= (p.Cys357=) | |
20 | g.63407209C>G | CA409639090 | KCNQ2 | c.2108G>C (p.Cys703Ser) c.2054G>C (p.Cys685Ser) c.1451G>C (p.Cys484Ser) c.1961G>C (p.Cys654Ser) c.1622G>C (p.Cys541Ser) c.1970G>C (p.Cys657Ser) c.2078G>C (p.Cys693Ser) c.2042G>C (p.Cys681Ser) c.2000G>C (p.Cys667Ser) c.1679+6241G>C (n.1679+6241G>C) c.2096G>C (p.Cys699Ser) c.2162G>C (p.Cys721Ser) c.2159G>C (p.Cys720Ser) c.2132G>C (p.Cys711Ser) c.2051G>C (p.Cys684Ser) c.2036G>C (p.Cys679Ser) c.1643G>C (p.Cys548Ser) c.2105G>C (p.Cys702Ser) c.2039G>C (p.Cys680Ser) c.1997G>C (p.Cys666Ser) c.1070G>C (p.Cys357Ser) | |
20 | g.63407209C>T | CA409639091 | KCNQ2 | c.2108G>A (p.Cys703Tyr) c.2054G>A (p.Cys685Tyr) c.1451G>A (p.Cys484Tyr) c.1961G>A (p.Cys654Tyr) c.1622G>A (p.Cys541Tyr) c.1970G>A (p.Cys657Tyr) c.2078G>A (p.Cys693Tyr) c.2042G>A (p.Cys681Tyr) c.2000G>A (p.Cys667Tyr) c.1679+6241G>A (n.1679+6241G>A) c.2096G>A (p.Cys699Tyr) c.2162G>A (p.Cys721Tyr) c.2159G>A (p.Cys720Tyr) c.2132G>A (p.Cys711Tyr) c.2051G>A (p.Cys684Tyr) c.2036G>A (p.Cys679Tyr) c.1643G>A (p.Cys548Tyr) c.2105G>A (p.Cys702Tyr) c.2039G>A (p.Cys680Tyr) c.1997G>A (p.Cys666Tyr) c.1070G>A (p.Cys357Tyr) | dbSNP gnomAD v4 |
20 | g.63407210A>C | CA409639092 | KCNQ2 | c.2107T>G (p.Cys703Gly) c.2053T>G (p.Cys685Gly) c.1450T>G (p.Cys484Gly) c.1960T>G (p.Cys654Gly) c.1621T>G (p.Cys541Gly) c.1969T>G (p.Cys657Gly) c.2077T>G (p.Cys693Gly) c.2041T>G (p.Cys681Gly) c.1999T>G (p.Cys667Gly) c.1679+6240T>G (n.1679+6240T>G) c.2095T>G (p.Cys699Gly) c.2161T>G (p.Cys721Gly) c.2158T>G (p.Cys720Gly) c.2131T>G (p.Cys711Gly) c.2050T>G (p.Cys684Gly) c.2035T>G (p.Cys679Gly) c.1642T>G (p.Cys548Gly) c.2104T>G (p.Cys702Gly) c.2038T>G (p.Cys680Gly) c.1996T>G (p.Cys666Gly) c.1069T>G (p.Cys357Gly) | |
20 | g.63407210A>G | CA409639093 | KCNQ2 | c.2107T>C (p.Cys703Arg) c.2053T>C (p.Cys685Arg) c.1450T>C (p.Cys484Arg) c.1960T>C (p.Cys654Arg) c.1621T>C (p.Cys541Arg) c.1969T>C (p.Cys657Arg) c.2077T>C (p.Cys693Arg) c.2041T>C (p.Cys681Arg) c.1999T>C (p.Cys667Arg) c.1679+6240T>C (n.1679+6240T>C) c.2095T>C (p.Cys699Arg) c.2161T>C (p.Cys721Arg) c.2158T>C (p.Cys720Arg) c.2131T>C (p.Cys711Arg) c.2050T>C (p.Cys684Arg) c.2035T>C (p.Cys679Arg) c.1642T>C (p.Cys548Arg) c.2104T>C (p.Cys702Arg) c.2038T>C (p.Cys680Arg) c.1996T>C (p.Cys666Arg) c.1069T>C (p.Cys357Arg) | |
20 | g.63407210A>T | CA409639094 | KCNQ2 | c.2107T>A (p.Cys703Ser) c.2053T>A (p.Cys685Ser) c.1450T>A (p.Cys484Ser) c.1960T>A (p.Cys654Ser) c.1621T>A (p.Cys541Ser) c.1969T>A (p.Cys657Ser) c.2077T>A (p.Cys693Ser) c.2041T>A (p.Cys681Ser) c.1999T>A (p.Cys667Ser) c.1679+6240T>A (n.1679+6240T>A) c.2095T>A (p.Cys699Ser) c.2161T>A (p.Cys721Ser) c.2158T>A (p.Cys720Ser) c.2131T>A (p.Cys711Ser) c.2050T>A (p.Cys684Ser) c.2035T>A (p.Cys679Ser) c.1642T>A (p.Cys548Ser) c.2104T>A (p.Cys702Ser) c.2038T>A (p.Cys680Ser) c.1996T>A (p.Cys666Ser) c.1069T>A (p.Cys357Ser) | |
20 | g.63407211G>A | CA9958161 | KCNQ2 | c.2106C>T (p.Gly702=) c.2052C>T (p.Gly684=) c.1449C>T (p.Gly483=) c.1959C>T (p.Gly653=) c.1620C>T (p.Gly540=) c.1968C>T (p.Gly656=) c.2076C>T (p.Gly692=) c.2040C>T (p.Gly680=) c.1998C>T (p.Gly666=) c.1679+6239C>T (n.1679+6239C>T) c.2094C>T (p.Gly698=) c.2160C>T (p.Gly720=) c.2157C>T (p.Gly719=) c.2130C>T (p.Gly710=) c.2049C>T (p.Gly683=) c.2034C>T (p.Gly678=) c.1641C>T (p.Gly547=) c.2103C>T (p.Gly701=) c.2037C>T (p.Gly679=) c.1995C>T (p.Gly665=) c.1068C>T (p.Gly356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407211G>C | CA511339412 | KCNQ2 | c.2106C>G (p.Gly702=) c.2052C>G (p.Gly684=) c.1449C>G (p.Gly483=) c.1959C>G (p.Gly653=) c.1620C>G (p.Gly540=) c.1968C>G (p.Gly656=) c.2076C>G (p.Gly692=) c.2040C>G (p.Gly680=) c.1998C>G (p.Gly666=) c.1679+6239C>G (n.1679+6239C>G) c.2094C>G (p.Gly698=) c.2160C>G (p.Gly720=) c.2157C>G (p.Gly719=) c.2130C>G (p.Gly710=) c.2049C>G (p.Gly683=) c.2034C>G (p.Gly678=) c.1641C>G (p.Gly547=) c.2103C>G (p.Gly701=) c.2037C>G (p.Gly679=) c.1995C>G (p.Gly665=) c.1068C>G (p.Gly356=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407211G= | CA2374774489 | KCNQ2 | c.2106C= (p.Gly702=) c.2052C= (p.Gly684=) c.1449C= (p.Gly483=) c.1959C= (p.Gly653=) c.1620C= (p.Gly540=) c.1968C= (p.Gly656=) c.2076C= (p.Gly692=) c.2040C= (p.Gly680=) c.1998C= (p.Gly666=) c.1679+6239C= (n.1679+6239C=) c.2094C= (p.Gly698=) c.2160C= (p.Gly720=) c.2157C= (p.Gly719=) c.2130C= (p.Gly710=) c.2049C= (p.Gly683=) c.2034C= (p.Gly678=) c.1641C= (p.Gly547=) c.2103C= (p.Gly701=) c.2037C= (p.Gly679=) c.1995C= (p.Gly665=) c.1068C= (p.Gly356=) | |
20 | g.63407211G>T | CA511339413 | KCNQ2 | c.2106C>A (p.Gly702=) c.2052C>A (p.Gly684=) c.1449C>A (p.Gly483=) c.1959C>A (p.Gly653=) c.1620C>A (p.Gly540=) c.1968C>A (p.Gly656=) c.2076C>A (p.Gly692=) c.2040C>A (p.Gly680=) c.1998C>A (p.Gly666=) c.1679+6239C>A (n.1679+6239C>A) c.2094C>A (p.Gly698=) c.2160C>A (p.Gly720=) c.2157C>A (p.Gly719=) c.2130C>A (p.Gly710=) c.2049C>A (p.Gly683=) c.2034C>A (p.Gly678=) c.1641C>A (p.Gly547=) c.2103C>A (p.Gly701=) c.2037C>A (p.Gly679=) c.1995C>A (p.Gly665=) c.1068C>A (p.Gly356=) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407213_63407229del | CA2739277256 | KCNQ2 | c.2090_2106del (p.His697LeufsTer?) c.2036_2052del (p.His679LeufsTer?) c.1433_1449del (p.His478LeufsTer?) c.1943_1959del (p.His648LeufsTer?) c.1604_1620del (p.His535LeufsTer?) c.1952_1968del (p.His651LeufsTer?) c.2060_2076del (p.His687LeufsTer?) c.2024_2040del (p.His675LeufsTer?) c.1982_1998del (p.His661LeufsTer?) c.1679+6223_1679+6239del (n.1679+6223_1679+6239del) c.2078_2094del (p.His693LeufsTer?) c.2144_2160del (p.His715LeufsTer?) c.2141_2157del (p.His714LeufsTer?) c.2114_2130del (p.His705LeufsTer?) c.2033_2049del (p.His678LeufsTer?) c.2018_2034del (p.His673LeufsTer?) c.1625_1641del (p.His542LeufsTer?) c.2087_2103del (p.His696LeufsTer?) c.2021_2037del (p.His674LeufsTer?) c.1979_1995del (p.His660LeufsTer?) c.1052_1068del (p.His351LeufsTer?) | ClinVar |
20 | g.63407212C>A | CA409639096 | KCNQ2 | c.2105G>T (p.Gly702Val) c.2051G>T (p.Gly684Val) c.1448G>T (p.Gly483Val) c.1958G>T (p.Gly653Val) c.1619G>T (p.Gly540Val) c.1967G>T (p.Gly656Val) c.2075G>T (p.Gly692Val) c.2039G>T (p.Gly680Val) c.1997G>T (p.Gly666Val) c.1679+6238G>T (n.1679+6238G>T) c.2093G>T (p.Gly698Val) c.2159G>T (p.Gly720Val) c.2156G>T (p.Gly719Val) c.2129G>T (p.Gly710Val) c.2048G>T (p.Gly683Val) c.2033G>T (p.Gly678Val) c.1640G>T (p.Gly547Val) c.2102G>T (p.Gly701Val) c.2036G>T (p.Gly679Val) c.1994G>T (p.Gly665Val) c.1067G>T (p.Gly356Val) | gnomAD v4 |
20 | g.63407212C>G | CA409639095 | KCNQ2 | c.2105G>C (p.Gly702Ala) c.2051G>C (p.Gly684Ala) c.1448G>C (p.Gly483Ala) c.1958G>C (p.Gly653Ala) c.1619G>C (p.Gly540Ala) c.1967G>C (p.Gly656Ala) c.2075G>C (p.Gly692Ala) c.2039G>C (p.Gly680Ala) c.1997G>C (p.Gly666Ala) c.1679+6238G>C (n.1679+6238G>C) c.2093G>C (p.Gly698Ala) c.2159G>C (p.Gly720Ala) c.2156G>C (p.Gly719Ala) c.2129G>C (p.Gly710Ala) c.2048G>C (p.Gly683Ala) c.2033G>C (p.Gly678Ala) c.1640G>C (p.Gly547Ala) c.2102G>C (p.Gly701Ala) c.2036G>C (p.Gly679Ala) c.1994G>C (p.Gly665Ala) c.1067G>C (p.Gly356Ala) | |
20 | g.63407212C>T | CA409639097 | KCNQ2 | c.2105G>A (p.Gly702Asp) c.2051G>A (p.Gly684Asp) c.1448G>A (p.Gly483Asp) c.1958G>A (p.Gly653Asp) c.1619G>A (p.Gly540Asp) c.1967G>A (p.Gly656Asp) c.2075G>A (p.Gly692Asp) c.2039G>A (p.Gly680Asp) c.1997G>A (p.Gly666Asp) c.1679+6238G>A (n.1679+6238G>A) c.2093G>A (p.Gly698Asp) c.2159G>A (p.Gly720Asp) c.2156G>A (p.Gly719Asp) c.2129G>A (p.Gly710Asp) c.2048G>A (p.Gly683Asp) c.2033G>A (p.Gly678Asp) c.1640G>A (p.Gly547Asp) c.2102G>A (p.Gly701Asp) c.2036G>A (p.Gly679Asp) c.1994G>A (p.Gly665Asp) c.1067G>A (p.Gly356Asp) | gnomAD v4 |
20 | g.63407213C>A | CA409639098 | KCNQ2 | c.2104G>T (p.Gly702Cys) c.2050G>T (p.Gly684Cys) c.1447G>T (p.Gly483Cys) c.1957G>T (p.Gly653Cys) c.1618G>T (p.Gly540Cys) c.1966G>T (p.Gly656Cys) c.2074G>T (p.Gly692Cys) c.2038G>T (p.Gly680Cys) c.1996G>T (p.Gly666Cys) c.1679+6237G>T (n.1679+6237G>T) c.2092G>T (p.Gly698Cys) c.2158G>T (p.Gly720Cys) c.2155G>T (p.Gly719Cys) c.2128G>T (p.Gly710Cys) c.2047G>T (p.Gly683Cys) c.2032G>T (p.Gly678Cys) c.1639G>T (p.Gly547Cys) c.2101G>T (p.Gly701Cys) c.2035G>T (p.Gly679Cys) c.1993G>T (p.Gly665Cys) c.1066G>T (p.Gly356Cys) | gnomAD v4 |
20 | g.63407213C= | CA2374774490 | KCNQ2 | c.2104G= (p.Gly702=) c.2050G= (p.Gly684=) c.1447G= (p.Gly483=) c.1957G= (p.Gly653=) c.1618G= (p.Gly540=) c.1966G= (p.Gly656=) c.2074G= (p.Gly692=) c.2038G= (p.Gly680=) c.1996G= (p.Gly666=) c.1679+6237G= (n.1679+6237G=) c.2092G= (p.Gly698=) c.2158G= (p.Gly720=) c.2155G= (p.Gly719=) c.2128G= (p.Gly710=) c.2047G= (p.Gly683=) c.2032G= (p.Gly678=) c.1639G= (p.Gly547=) c.2101G= (p.Gly701=) c.2035G= (p.Gly679=) c.1993G= (p.Gly665=) c.1066G= (p.Gly356=) | |
20 | g.63407213C>G | CA409639099 | KCNQ2 | c.2104G>C (p.Gly702Arg) c.2050G>C (p.Gly684Arg) c.1447G>C (p.Gly483Arg) c.1957G>C (p.Gly653Arg) c.1618G>C (p.Gly540Arg) c.1966G>C (p.Gly656Arg) c.2074G>C (p.Gly692Arg) c.2038G>C (p.Gly680Arg) c.1996G>C (p.Gly666Arg) c.1679+6237G>C (n.1679+6237G>C) c.2092G>C (p.Gly698Arg) c.2158G>C (p.Gly720Arg) c.2155G>C (p.Gly719Arg) c.2128G>C (p.Gly710Arg) c.2047G>C (p.Gly683Arg) c.2032G>C (p.Gly678Arg) c.1639G>C (p.Gly547Arg) c.2101G>C (p.Gly701Arg) c.2035G>C (p.Gly679Arg) c.1993G>C (p.Gly665Arg) c.1066G>C (p.Gly356Arg) | |
20 | g.63407213C>T | CA315516 | KCNQ2 | c.2104G>A (p.Gly702Ser) c.2050G>A (p.Gly684Ser) c.1447G>A (p.Gly483Ser) c.1957G>A (p.Gly653Ser) c.1618G>A (p.Gly540Ser) c.1966G>A (p.Gly656Ser) c.2074G>A (p.Gly692Ser) c.2038G>A (p.Gly680Ser) c.1996G>A (p.Gly666Ser) c.1679+6237G>A (n.1679+6237G>A) c.2092G>A (p.Gly698Ser) c.2158G>A (p.Gly720Ser) c.2155G>A (p.Gly719Ser) c.2128G>A (p.Gly710Ser) c.2047G>A (p.Gly683Ser) c.2032G>A (p.Gly678Ser) c.1639G>A (p.Gly547Ser) c.2101G>A (p.Gly701Ser) c.2035G>A (p.Gly679Ser) c.1993G>A (p.Gly665Ser) c.1066G>A (p.Gly356Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407214G>A | CA9958162 | KCNQ2 | c.2103C>T (p.His701=) c.2049C>T (p.His683=) c.1446C>T (p.His482=) c.1956C>T (p.His652=) c.1617C>T (p.His539=) c.1965C>T (p.His655=) c.2073C>T (p.His691=) c.2037C>T (p.His679=) c.1995C>T (p.His665=) c.1679+6236C>T (n.1679+6236C>T) c.2091C>T (p.His697=) c.2157C>T (p.His719=) c.2154C>T (p.His718=) c.2127C>T (p.His709=) c.2046C>T (p.His682=) c.2031C>T (p.His677=) c.1638C>T (p.His546=) c.2100C>T (p.His700=) c.2034C>T (p.His678=) c.1992C>T (p.His664=) c.1065C>T (p.His355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407214G>C | CA409639100 | KCNQ2 | c.2103C>G (p.His701Gln) c.2049C>G (p.His683Gln) c.1446C>G (p.His482Gln) c.1956C>G (p.His652Gln) c.1617C>G (p.His539Gln) c.1965C>G (p.His655Gln) c.2073C>G (p.His691Gln) c.2037C>G (p.His679Gln) c.1995C>G (p.His665Gln) c.1679+6236C>G (n.1679+6236C>G) c.2091C>G (p.His697Gln) c.2157C>G (p.His719Gln) c.2154C>G (p.His718Gln) c.2127C>G (p.His709Gln) c.2046C>G (p.His682Gln) c.2031C>G (p.His677Gln) c.1638C>G (p.His546Gln) c.2100C>G (p.His700Gln) c.2034C>G (p.His678Gln) c.1992C>G (p.His664Gln) c.1065C>G (p.His355Gln) | |
20 | g.63407214G= | CA2374774491 | KCNQ2 | c.2103C= (p.His701=) c.2049C= (p.His683=) c.1446C= (p.His482=) c.1956C= (p.His652=) c.1617C= (p.His539=) c.1965C= (p.His655=) c.2073C= (p.His691=) c.2037C= (p.His679=) c.1995C= (p.His665=) c.1679+6236C= (n.1679+6236C=) c.2091C= (p.His697=) c.2157C= (p.His719=) c.2154C= (p.His718=) c.2127C= (p.His709=) c.2046C= (p.His682=) c.2031C= (p.His677=) c.1638C= (p.His546=) c.2100C= (p.His700=) c.2034C= (p.His678=) c.1992C= (p.His664=) c.1065C= (p.His355=) | |
20 | g.63407214G>T | CA409639101 | KCNQ2 | c.2103C>A (p.His701Gln) c.2049C>A (p.His683Gln) c.1446C>A (p.His482Gln) c.1956C>A (p.His652Gln) c.1617C>A (p.His539Gln) c.1965C>A (p.His655Gln) c.2073C>A (p.His691Gln) c.2037C>A (p.His679Gln) c.1995C>A (p.His665Gln) c.1679+6236C>A (n.1679+6236C>A) c.2091C>A (p.His697Gln) c.2157C>A (p.His719Gln) c.2154C>A (p.His718Gln) c.2127C>A (p.His709Gln) c.2046C>A (p.His682Gln) c.2031C>A (p.His677Gln) c.1638C>A (p.His546Gln) c.2100C>A (p.His700Gln) c.2034C>A (p.His678Gln) c.1992C>A (p.His664Gln) c.1065C>A (p.His355Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407215_63407216del | CA915952958 | KCNQ2 | c.2102_2103del (p.His701ArgfsTer?) c.2048_2049del (p.His683ArgfsTer?) c.1445_1446del (p.His482ArgfsTer?) c.1955_1956del (p.His652ArgfsTer?) c.1616_1617del (p.His539ArgfsTer?) c.1964_1965del (p.His655ArgfsTer?) c.2072_2073del (p.His691ArgfsTer?) c.2036_2037del (p.His679ArgfsTer?) c.1994_1995del (p.His665ArgfsTer?) c.1679+6235_1679+6236del (n.1679+6235_1679+6236del) c.2090_2091del (p.His697ArgfsTer?) c.2156_2157del (p.His719ArgfsTer?) c.2153_2154del (p.His718ArgfsTer?) c.2126_2127del (p.His709ArgfsTer?) c.2045_2046del (p.His682ArgfsTer?) c.2030_2031del (p.His677ArgfsTer?) c.1637_1638del (p.His546ArgfsTer?) c.2099_2100del (p.His700ArgfsTer?) c.2033_2034del (p.His678ArgfsTer?) c.1991_1992del (p.His664ArgfsTer?) c.1064_1065del (p.His355ArgfsTer?) | ClinVar |
20 | g.63407215T>A | CA409639102 | KCNQ2 | c.2102A>T (p.His701Leu) c.2048A>T (p.His683Leu) c.1445A>T (p.His482Leu) c.1955A>T (p.His652Leu) c.1616A>T (p.His539Leu) c.1964A>T (p.His655Leu) c.2072A>T (p.His691Leu) c.2036A>T (p.His679Leu) c.1994A>T (p.His665Leu) c.1679+6235A>T (n.1679+6235A>T) c.2090A>T (p.His697Leu) c.2156A>T (p.His719Leu) c.2153A>T (p.His718Leu) c.2126A>T (p.His709Leu) c.2045A>T (p.His682Leu) c.2030A>T (p.His677Leu) c.1637A>T (p.His546Leu) c.2099A>T (p.His700Leu) c.2033A>T (p.His678Leu) c.1991A>T (p.His664Leu) c.1064A>T (p.His355Leu) | |
20 | g.63407215T>C | CA409639103 | KCNQ2 | c.2102A>G (p.His701Arg) c.2048A>G (p.His683Arg) c.1445A>G (p.His482Arg) c.1955A>G (p.His652Arg) c.1616A>G (p.His539Arg) c.1964A>G (p.His655Arg) c.2072A>G (p.His691Arg) c.2036A>G (p.His679Arg) c.1994A>G (p.His665Arg) c.1679+6235A>G (n.1679+6235A>G) c.2090A>G (p.His697Arg) c.2156A>G (p.His719Arg) c.2153A>G (p.His718Arg) c.2126A>G (p.His709Arg) c.2045A>G (p.His682Arg) c.2030A>G (p.His677Arg) c.1637A>G (p.His546Arg) c.2099A>G (p.His700Arg) c.2033A>G (p.His678Arg) c.1991A>G (p.His664Arg) c.1064A>G (p.His355Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407215T>G | CA409639104 | KCNQ2 | c.2102A>C (p.His701Pro) c.2048A>C (p.His683Pro) c.1445A>C (p.His482Pro) c.1955A>C (p.His652Pro) c.1616A>C (p.His539Pro) c.1964A>C (p.His655Pro) c.2072A>C (p.His691Pro) c.2036A>C (p.His679Pro) c.1994A>C (p.His665Pro) c.1679+6235A>C (n.1679+6235A>C) c.2090A>C (p.His697Pro) c.2156A>C (p.His719Pro) c.2153A>C (p.His718Pro) c.2126A>C (p.His709Pro) c.2045A>C (p.His682Pro) c.2030A>C (p.His677Pro) c.1637A>C (p.His546Pro) c.2099A>C (p.His700Pro) c.2033A>C (p.His678Pro) c.1991A>C (p.His664Pro) c.1064A>C (p.His355Pro) | |
20 | g.63407215T= | CA2374774492 | KCNQ2 | c.2102A= (p.His701=) c.2048A= (p.His683=) c.1445A= (p.His482=) c.1955A= (p.His652=) c.1616A= (p.His539=) c.1964A= (p.His655=) c.2072A= (p.His691=) c.2036A= (p.His679=) c.1994A= (p.His665=) c.1679+6235A= (n.1679+6235A=) c.2090A= (p.His697=) c.2156A= (p.His719=) c.2153A= (p.His718=) c.2126A= (p.His709=) c.2045A= (p.His682=) c.2030A= (p.His677=) c.1637A= (p.His546=) c.2099A= (p.His700=) c.2033A= (p.His678=) c.1991A= (p.His664=) c.1064A= (p.His355=) | |
20 | g.63407216G>A | CA409639105 | KCNQ2 | c.2101C>T (p.His701Tyr) c.2047C>T (p.His683Tyr) c.1444C>T (p.His482Tyr) c.1954C>T (p.His652Tyr) c.1615C>T (p.His539Tyr) c.1963C>T (p.His655Tyr) c.2071C>T (p.His691Tyr) c.2035C>T (p.His679Tyr) c.1993C>T (p.His665Tyr) c.1679+6234C>T (n.1679+6234C>T) c.2089C>T (p.His697Tyr) c.2155C>T (p.His719Tyr) c.2152C>T (p.His718Tyr) c.2125C>T (p.His709Tyr) c.2044C>T (p.His682Tyr) c.2029C>T (p.His677Tyr) c.1636C>T (p.His546Tyr) c.2098C>T (p.His700Tyr) c.2032C>T (p.His678Tyr) c.1990C>T (p.His664Tyr) c.1063C>T (p.His355Tyr) | |
20 | g.63407216G>C | CA409639106 | KCNQ2 | c.2101C>G (p.His701Asp) c.2047C>G (p.His683Asp) c.1444C>G (p.His482Asp) c.1954C>G (p.His652Asp) c.1615C>G (p.His539Asp) c.1963C>G (p.His655Asp) c.2071C>G (p.His691Asp) c.2035C>G (p.His679Asp) c.1993C>G (p.His665Asp) c.1679+6234C>G (n.1679+6234C>G) c.2089C>G (p.His697Asp) c.2155C>G (p.His719Asp) c.2152C>G (p.His718Asp) c.2125C>G (p.His709Asp) c.2044C>G (p.His682Asp) c.2029C>G (p.His677Asp) c.1636C>G (p.His546Asp) c.2098C>G (p.His700Asp) c.2032C>G (p.His678Asp) c.1990C>G (p.His664Asp) c.1063C>G (p.His355Asp) | |
20 | g.63407216G>T | CA409639107 | KCNQ2 | c.2101C>A (p.His701Asn) c.2047C>A (p.His683Asn) c.1444C>A (p.His482Asn) c.1954C>A (p.His652Asn) c.1615C>A (p.His539Asn) c.1963C>A (p.His655Asn) c.2071C>A (p.His691Asn) c.2035C>A (p.His679Asn) c.1993C>A (p.His665Asn) c.1679+6234C>A (n.1679+6234C>A) c.2089C>A (p.His697Asn) c.2155C>A (p.His719Asn) c.2152C>A (p.His718Asn) c.2125C>A (p.His709Asn) c.2044C>A (p.His682Asn) c.2029C>A (p.His677Asn) c.1636C>A (p.His546Asn) c.2098C>A (p.His700Asn) c.2032C>A (p.His678Asn) c.1990C>A (p.His664Asn) c.1063C>A (p.His355Asn) | gnomAD v4 |
20 | g.63407217C>A | CA409639109 | KCNQ2 | c.2100G>T (p.Arg700Ser) c.2046G>T (p.Arg682Ser) c.1443G>T (p.Arg481Ser) c.1953G>T (p.Arg651Ser) c.1614G>T (p.Arg538Ser) c.1962G>T (p.Arg654Ser) c.2070G>T (p.Arg690Ser) c.2034G>T (p.Arg678Ser) c.1992G>T (p.Arg664Ser) c.1679+6233G>T (n.1679+6233G>T) c.2088G>T (p.Arg696Ser) c.2154G>T (p.Arg718Ser) c.2151G>T (p.Arg717Ser) c.2124G>T (p.Arg708Ser) c.2043G>T (p.Arg681Ser) c.2028G>T (p.Arg676Ser) c.1635G>T (p.Arg545Ser) c.2097G>T (p.Arg699Ser) c.2031G>T (p.Arg677Ser) c.1989G>T (p.Arg663Ser) c.1062G>T (p.Arg354Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407217C= | CA2374774493 | KCNQ2 | c.2100G= (p.Arg700=) c.2046G= (p.Arg682=) c.1443G= (p.Arg481=) c.1953G= (p.Arg651=) c.1614G= (p.Arg538=) c.1962G= (p.Arg654=) c.2070G= (p.Arg690=) c.2034G= (p.Arg678=) c.1992G= (p.Arg664=) c.1679+6233G= (n.1679+6233G=) c.2088G= (p.Arg696=) c.2154G= (p.Arg718=) c.2151G= (p.Arg717=) c.2124G= (p.Arg708=) c.2043G= (p.Arg681=) c.2028G= (p.Arg676=) c.1635G= (p.Arg545=) c.2097G= (p.Arg699=) c.2031G= (p.Arg677=) c.1989G= (p.Arg663=) c.1062G= (p.Arg354=) | |
20 | g.63407217C>G | CA409639108 | KCNQ2 | c.2100G>C (p.Arg700Ser) c.2046G>C (p.Arg682Ser) c.1443G>C (p.Arg481Ser) c.1953G>C (p.Arg651Ser) c.1614G>C (p.Arg538Ser) c.1962G>C (p.Arg654Ser) c.2070G>C (p.Arg690Ser) c.2034G>C (p.Arg678Ser) c.1992G>C (p.Arg664Ser) c.1679+6233G>C (n.1679+6233G>C) c.2088G>C (p.Arg696Ser) c.2154G>C (p.Arg718Ser) c.2151G>C (p.Arg717Ser) c.2124G>C (p.Arg708Ser) c.2043G>C (p.Arg681Ser) c.2028G>C (p.Arg676Ser) c.1635G>C (p.Arg545Ser) c.2097G>C (p.Arg699Ser) c.2031G>C (p.Arg677Ser) c.1989G>C (p.Arg663Ser) c.1062G>C (p.Arg354Ser) | |
20 | g.63407217C>T | CA511339416 | KCNQ2 | c.2100G>A (p.Arg700=) c.2046G>A (p.Arg682=) c.1443G>A (p.Arg481=) c.1953G>A (p.Arg651=) c.1614G>A (p.Arg538=) c.1962G>A (p.Arg654=) c.2070G>A (p.Arg690=) c.2034G>A (p.Arg678=) c.1992G>A (p.Arg664=) c.1679+6233G>A (n.1679+6233G>A) c.2088G>A (p.Arg696=) c.2154G>A (p.Arg718=) c.2151G>A (p.Arg717=) c.2124G>A (p.Arg708=) c.2043G>A (p.Arg681=) c.2028G>A (p.Arg676=) c.1635G>A (p.Arg545=) c.2097G>A (p.Arg699=) c.2031G>A (p.Arg677=) c.1989G>A (p.Arg663=) c.1062G>A (p.Arg354=) | gnomAD v4 |
20 | g.63407217_63407218insA | CA2739277257 | KCNQ2 | c.2099_2100insT (p.Arg700SerfsTer?) c.2045_2046insT (p.Arg682SerfsTer?) c.1442_1443insT (p.Arg481SerfsTer?) c.1952_1953insT (p.Arg651SerfsTer?) c.1613_1614insT (p.Arg538SerfsTer?) c.1961_1962insT (p.Arg654SerfsTer?) c.2069_2070insT (p.Arg690SerfsTer?) c.2033_2034insT (p.Arg678SerfsTer?) c.1991_1992insT (p.Arg664SerfsTer?) c.1679+6232_1679+6233insT (n.1679+6232_1679+6233insT) c.2087_2088insT (p.Arg696SerfsTer?) c.2153_2154insT (p.Arg718SerfsTer?) c.2150_2151insT (p.Arg717SerfsTer?) c.2123_2124insT (p.Arg708SerfsTer?) c.2042_2043insT (p.Arg681SerfsTer?) c.2027_2028insT (p.Arg676SerfsTer?) c.1634_1635insT (p.Arg545SerfsTer?) c.2096_2097insT (p.Arg699SerfsTer?) c.2030_2031insT (p.Arg677SerfsTer?) c.1988_1989insT (p.Arg663SerfsTer?) c.1061_1062insT (p.Arg354SerfsTer?) | ClinVar |
20 | g.63407218C>A | CA409639110 | KCNQ2 | c.2099G>T (p.Arg700Met) c.2045G>T (p.Arg682Met) c.1442G>T (p.Arg481Met) c.1952G>T (p.Arg651Met) c.1613G>T (p.Arg538Met) c.1961G>T (p.Arg654Met) c.2069G>T (p.Arg690Met) c.2033G>T (p.Arg678Met) c.1991G>T (p.Arg664Met) c.1679+6232G>T (n.1679+6232G>T) c.2087G>T (p.Arg696Met) c.2153G>T (p.Arg718Met) c.2150G>T (p.Arg717Met) c.2123G>T (p.Arg708Met) c.2042G>T (p.Arg681Met) c.2027G>T (p.Arg676Met) c.1634G>T (p.Arg545Met) c.2096G>T (p.Arg699Met) c.2030G>T (p.Arg677Met) c.1988G>T (p.Arg663Met) c.1061G>T (p.Arg354Met) | gnomAD v4 |
20 | g.63407218C= | CA2374774494 | KCNQ2 | c.2099G= (p.Arg700=) c.2045G= (p.Arg682=) c.1442G= (p.Arg481=) c.1952G= (p.Arg651=) c.1613G= (p.Arg538=) c.1961G= (p.Arg654=) c.2069G= (p.Arg690=) c.2033G= (p.Arg678=) c.1991G= (p.Arg664=) c.1679+6232G= (n.1679+6232G=) c.2087G= (p.Arg696=) c.2153G= (p.Arg718=) c.2150G= (p.Arg717=) c.2123G= (p.Arg708=) c.2042G= (p.Arg681=) c.2027G= (p.Arg676=) c.1634G= (p.Arg545=) c.2096G= (p.Arg699=) c.2030G= (p.Arg677=) c.1988G= (p.Arg663=) c.1061G= (p.Arg354=) | |
20 | g.63407218C>G | CA409639111 | KCNQ2 | c.2099G>C (p.Arg700Thr) c.2045G>C (p.Arg682Thr) c.1442G>C (p.Arg481Thr) c.1952G>C (p.Arg651Thr) c.1613G>C (p.Arg538Thr) c.1961G>C (p.Arg654Thr) c.2069G>C (p.Arg690Thr) c.2033G>C (p.Arg678Thr) c.1991G>C (p.Arg664Thr) c.1679+6232G>C (n.1679+6232G>C) c.2087G>C (p.Arg696Thr) c.2153G>C (p.Arg718Thr) c.2150G>C (p.Arg717Thr) c.2123G>C (p.Arg708Thr) c.2042G>C (p.Arg681Thr) c.2027G>C (p.Arg676Thr) c.1634G>C (p.Arg545Thr) c.2096G>C (p.Arg699Thr) c.2030G>C (p.Arg677Thr) c.1988G>C (p.Arg663Thr) c.1061G>C (p.Arg354Thr) | |
20 | g.63407218C>T | CA409639112 | KCNQ2 | c.2099G>A (p.Arg700Lys) c.2045G>A (p.Arg682Lys) c.1442G>A (p.Arg481Lys) c.1952G>A (p.Arg651Lys) c.1613G>A (p.Arg538Lys) c.1961G>A (p.Arg654Lys) c.2069G>A (p.Arg690Lys) c.2033G>A (p.Arg678Lys) c.1991G>A (p.Arg664Lys) c.1679+6232G>A (n.1679+6232G>A) c.2087G>A (p.Arg696Lys) c.2153G>A (p.Arg718Lys) c.2150G>A (p.Arg717Lys) c.2123G>A (p.Arg708Lys) c.2042G>A (p.Arg681Lys) c.2027G>A (p.Arg676Lys) c.1634G>A (p.Arg545Lys) c.2096G>A (p.Arg699Lys) c.2030G>A (p.Arg677Lys) c.1988G>A (p.Arg663Lys) c.1061G>A (p.Arg354Lys) | dbSNP gnomAD v4 |
20 | g.63407219T>A | CA409639113 | KCNQ2 | c.2098A>T (p.Arg700Trp) c.2044A>T (p.Arg682Trp) c.1441A>T (p.Arg481Trp) c.1951A>T (p.Arg651Trp) c.1612A>T (p.Arg538Trp) c.1960A>T (p.Arg654Trp) c.2068A>T (p.Arg690Trp) c.2032A>T (p.Arg678Trp) c.1990A>T (p.Arg664Trp) c.1679+6231A>T (n.1679+6231A>T) c.2086A>T (p.Arg696Trp) c.2152A>T (p.Arg718Trp) c.2149A>T (p.Arg717Trp) c.2122A>T (p.Arg708Trp) c.2041A>T (p.Arg681Trp) c.2026A>T (p.Arg676Trp) c.1633A>T (p.Arg545Trp) c.2095A>T (p.Arg699Trp) c.2029A>T (p.Arg677Trp) c.1987A>T (p.Arg663Trp) c.1060A>T (p.Arg354Trp) | |
20 | g.63407219T>C | CA409639114 | KCNQ2 | c.2098A>G (p.Arg700Gly) c.2044A>G (p.Arg682Gly) c.1441A>G (p.Arg481Gly) c.1951A>G (p.Arg651Gly) c.1612A>G (p.Arg538Gly) c.1960A>G (p.Arg654Gly) c.2068A>G (p.Arg690Gly) c.2032A>G (p.Arg678Gly) c.1990A>G (p.Arg664Gly) c.1679+6231A>G (n.1679+6231A>G) c.2086A>G (p.Arg696Gly) c.2152A>G (p.Arg718Gly) c.2149A>G (p.Arg717Gly) c.2122A>G (p.Arg708Gly) c.2041A>G (p.Arg681Gly) c.2026A>G (p.Arg676Gly) c.1633A>G (p.Arg545Gly) c.2095A>G (p.Arg699Gly) c.2029A>G (p.Arg677Gly) c.1987A>G (p.Arg663Gly) c.1060A>G (p.Arg354Gly) | gnomAD v4 |
20 | g.63407219T>G | CA511339418 | KCNQ2 | c.2098A>C (p.Arg700=) c.2044A>C (p.Arg682=) c.1441A>C (p.Arg481=) c.1951A>C (p.Arg651=) c.1612A>C (p.Arg538=) c.1960A>C (p.Arg654=) c.2068A>C (p.Arg690=) c.2032A>C (p.Arg678=) c.1990A>C (p.Arg664=) c.1679+6231A>C (n.1679+6231A>C) c.2086A>C (p.Arg696=) c.2152A>C (p.Arg718=) c.2149A>C (p.Arg717=) c.2122A>C (p.Arg708=) c.2041A>C (p.Arg681=) c.2026A>C (p.Arg676=) c.1633A>C (p.Arg545=) c.2095A>C (p.Arg699=) c.2029A>C (p.Arg677=) c.1987A>C (p.Arg663=) c.1060A>C (p.Arg354=) | |
20 | g.63407220G>A | CA511339419 | KCNQ2 | c.2097C>T (p.Asp699=) c.2043C>T (p.Asp681=) c.1440C>T (p.Asp480=) c.1950C>T (p.Asp650=) c.1611C>T (p.Asp537=) c.1959C>T (p.Asp653=) c.2067C>T (p.Asp689=) c.2031C>T (p.Asp677=) c.1989C>T (p.Asp663=) c.1679+6230C>T (n.1679+6230C>T) c.2085C>T (p.Asp695=) c.2151C>T (p.Asp717=) c.2148C>T (p.Asp716=) c.2121C>T (p.Asp707=) c.2040C>T (p.Asp680=) c.2025C>T (p.Asp675=) c.1632C>T (p.Asp544=) c.2094C>T (p.Asp698=) c.2028C>T (p.Asp676=) c.1986C>T (p.Asp662=) c.1059C>T (p.Asp353=) | gnomAD v4 |
20 | g.63407220G>C | CA409639115 | KCNQ2 | c.2097C>G (p.Asp699Glu) c.2043C>G (p.Asp681Glu) c.1440C>G (p.Asp480Glu) c.1950C>G (p.Asp650Glu) c.1611C>G (p.Asp537Glu) c.1959C>G (p.Asp653Glu) c.2067C>G (p.Asp689Glu) c.2031C>G (p.Asp677Glu) c.1989C>G (p.Asp663Glu) c.1679+6230C>G (n.1679+6230C>G) c.2085C>G (p.Asp695Glu) c.2151C>G (p.Asp717Glu) c.2148C>G (p.Asp716Glu) c.2121C>G (p.Asp707Glu) c.2040C>G (p.Asp680Glu) c.2025C>G (p.Asp675Glu) c.1632C>G (p.Asp544Glu) c.2094C>G (p.Asp698Glu) c.2028C>G (p.Asp676Glu) c.1986C>G (p.Asp662Glu) c.1059C>G (p.Asp353Glu) | |
20 | g.63407220G>T | CA409639116 | KCNQ2 | c.2097C>A (p.Asp699Glu) c.2043C>A (p.Asp681Glu) c.1440C>A (p.Asp480Glu) c.1950C>A (p.Asp650Glu) c.1611C>A (p.Asp537Glu) c.1959C>A (p.Asp653Glu) c.2067C>A (p.Asp689Glu) c.2031C>A (p.Asp677Glu) c.1989C>A (p.Asp663Glu) c.1679+6230C>A (n.1679+6230C>A) c.2085C>A (p.Asp695Glu) c.2151C>A (p.Asp717Glu) c.2148C>A (p.Asp716Glu) c.2121C>A (p.Asp707Glu) c.2040C>A (p.Asp680Glu) c.2025C>A (p.Asp675Glu) c.1632C>A (p.Asp544Glu) c.2094C>A (p.Asp698Glu) c.2028C>A (p.Asp676Glu) c.1986C>A (p.Asp662Glu) c.1059C>A (p.Asp353Glu) | gnomAD v4 |
20 | g.63407221T>A | CA409639117 | KCNQ2 | c.2096A>T (p.Asp699Val) c.2042A>T (p.Asp681Val) c.1439A>T (p.Asp480Val) c.1949A>T (p.Asp650Val) c.1610A>T (p.Asp537Val) c.1958A>T (p.Asp653Val) c.2066A>T (p.Asp689Val) c.2030A>T (p.Asp677Val) c.1988A>T (p.Asp663Val) c.1679+6229A>T (n.1679+6229A>T) c.2084A>T (p.Asp695Val) c.2150A>T (p.Asp717Val) c.2147A>T (p.Asp716Val) c.2120A>T (p.Asp707Val) c.2039A>T (p.Asp680Val) c.2024A>T (p.Asp675Val) c.1631A>T (p.Asp544Val) c.2093A>T (p.Asp698Val) c.2027A>T (p.Asp676Val) c.1985A>T (p.Asp662Val) c.1058A>T (p.Asp353Val) | |
20 | g.63407221T>C | CA409639118 | KCNQ2 | c.2096A>G (p.Asp699Gly) c.2042A>G (p.Asp681Gly) c.1439A>G (p.Asp480Gly) c.1949A>G (p.Asp650Gly) c.1610A>G (p.Asp537Gly) c.1958A>G (p.Asp653Gly) c.2066A>G (p.Asp689Gly) c.2030A>G (p.Asp677Gly) c.1988A>G (p.Asp663Gly) c.1679+6229A>G (n.1679+6229A>G) c.2084A>G (p.Asp695Gly) c.2150A>G (p.Asp717Gly) c.2147A>G (p.Asp716Gly) c.2120A>G (p.Asp707Gly) c.2039A>G (p.Asp680Gly) c.2024A>G (p.Asp675Gly) c.1631A>G (p.Asp544Gly) c.2093A>G (p.Asp698Gly) c.2027A>G (p.Asp676Gly) c.1985A>G (p.Asp662Gly) c.1058A>G (p.Asp353Gly) | gnomAD v4 |
20 | g.63407221T>G | CA409639119 | KCNQ2 | c.2096A>C (p.Asp699Ala) c.2042A>C (p.Asp681Ala) c.1439A>C (p.Asp480Ala) c.1949A>C (p.Asp650Ala) c.1610A>C (p.Asp537Ala) c.1958A>C (p.Asp653Ala) c.2066A>C (p.Asp689Ala) c.2030A>C (p.Asp677Ala) c.1988A>C (p.Asp663Ala) c.1679+6229A>C (n.1679+6229A>C) c.2084A>C (p.Asp695Ala) c.2150A>C (p.Asp717Ala) c.2147A>C (p.Asp716Ala) c.2120A>C (p.Asp707Ala) c.2039A>C (p.Asp680Ala) c.2024A>C (p.Asp675Ala) c.1631A>C (p.Asp544Ala) c.2093A>C (p.Asp698Ala) c.2027A>C (p.Asp676Ala) c.1985A>C (p.Asp662Ala) c.1058A>C (p.Asp353Ala) | |
20 | g.63407222C>A | CA409639120 | KCNQ2 | c.2095G>T (p.Asp699Tyr) c.2041G>T (p.Asp681Tyr) c.1438G>T (p.Asp480Tyr) c.1948G>T (p.Asp650Tyr) c.1609G>T (p.Asp537Tyr) c.1957G>T (p.Asp653Tyr) c.2065G>T (p.Asp689Tyr) c.2029G>T (p.Asp677Tyr) c.1987G>T (p.Asp663Tyr) c.1679+6228G>T (n.1679+6228G>T) c.2083G>T (p.Asp695Tyr) c.2149G>T (p.Asp717Tyr) c.2146G>T (p.Asp716Tyr) c.2119G>T (p.Asp707Tyr) c.2038G>T (p.Asp680Tyr) c.2023G>T (p.Asp675Tyr) c.1630G>T (p.Asp544Tyr) c.2092G>T (p.Asp698Tyr) c.2026G>T (p.Asp676Tyr) c.1984G>T (p.Asp662Tyr) c.1057G>T (p.Asp353Tyr) | |
20 | g.63407222C= | CA2374774495 | KCNQ2 | c.2095G= (p.Asp699=) c.2041G= (p.Asp681=) c.1438G= (p.Asp480=) c.1948G= (p.Asp650=) c.1609G= (p.Asp537=) c.1957G= (p.Asp653=) c.2065G= (p.Asp689=) c.2029G= (p.Asp677=) c.1987G= (p.Asp663=) c.1679+6228G= (n.1679+6228G=) c.2083G= (p.Asp695=) c.2149G= (p.Asp717=) c.2146G= (p.Asp716=) c.2119G= (p.Asp707=) c.2038G= (p.Asp680=) c.2023G= (p.Asp675=) c.1630G= (p.Asp544=) c.2092G= (p.Asp698=) c.2026G= (p.Asp676=) c.1984G= (p.Asp662=) c.1057G= (p.Asp353=) | |
20 | g.63407222C>G | CA409639121 | KCNQ2 | c.2095G>C (p.Asp699His) c.2041G>C (p.Asp681His) c.1438G>C (p.Asp480His) c.1948G>C (p.Asp650His) c.1609G>C (p.Asp537His) c.1957G>C (p.Asp653His) c.2065G>C (p.Asp689His) c.2029G>C (p.Asp677His) c.1987G>C (p.Asp663His) c.1679+6228G>C (n.1679+6228G>C) c.2083G>C (p.Asp695His) c.2149G>C (p.Asp717His) c.2146G>C (p.Asp716His) c.2119G>C (p.Asp707His) c.2038G>C (p.Asp680His) c.2023G>C (p.Asp675His) c.1630G>C (p.Asp544His) c.2092G>C (p.Asp698His) c.2026G>C (p.Asp676His) c.1984G>C (p.Asp662His) c.1057G>C (p.Asp353His) | gnomAD v4 |
20 | g.63407222C>T | CA409639122 | KCNQ2 | c.2095G>A (p.Asp699Asn) c.2041G>A (p.Asp681Asn) c.1438G>A (p.Asp480Asn) c.1948G>A (p.Asp650Asn) c.1609G>A (p.Asp537Asn) c.1957G>A (p.Asp653Asn) c.2065G>A (p.Asp689Asn) c.2029G>A (p.Asp677Asn) c.1987G>A (p.Asp663Asn) c.1679+6228G>A (n.1679+6228G>A) c.2083G>A (p.Asp695Asn) c.2149G>A (p.Asp717Asn) c.2146G>A (p.Asp716Asn) c.2119G>A (p.Asp707Asn) c.2038G>A (p.Asp680Asn) c.2023G>A (p.Asp675Asn) c.1630G>A (p.Asp544Asn) c.2092G>A (p.Asp698Asn) c.2026G>A (p.Asp676Asn) c.1984G>A (p.Asp662Asn) c.1057G>A (p.Asp353Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407223G>A | CA9958163 | KCNQ2 | c.2094C>T (p.Val698=) c.2040C>T (p.Val680=) c.1437C>T (p.Val479=) c.1947C>T (p.Val649=) c.1608C>T (p.Val536=) c.1956C>T (p.Val652=) c.2064C>T (p.Val688=) c.2028C>T (p.Val676=) c.1986C>T (p.Val662=) c.1679+6227C>T (n.1679+6227C>T) c.2082C>T (p.Val694=) c.2148C>T (p.Val716=) c.2145C>T (p.Val715=) c.2118C>T (p.Val706=) c.2037C>T (p.Val679=) c.2022C>T (p.Val674=) c.1629C>T (p.Val543=) c.2091C>T (p.Val697=) c.2025C>T (p.Val675=) c.1983C>T (p.Val661=) c.1056C>T (p.Val352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407223G>C | CA9958164 | KCNQ2 | c.2094C>G (p.Val698=) c.2040C>G (p.Val680=) c.1437C>G (p.Val479=) c.1947C>G (p.Val649=) c.1608C>G (p.Val536=) c.1956C>G (p.Val652=) c.2064C>G (p.Val688=) c.2028C>G (p.Val676=) c.1986C>G (p.Val662=) c.1679+6227C>G (n.1679+6227C>G) c.2082C>G (p.Val694=) c.2148C>G (p.Val716=) c.2145C>G (p.Val715=) c.2118C>G (p.Val706=) c.2037C>G (p.Val679=) c.2022C>G (p.Val674=) c.1629C>G (p.Val543=) c.2091C>G (p.Val697=) c.2025C>G (p.Val675=) c.1983C>G (p.Val661=) c.1056C>G (p.Val352=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407223G= | CA2374774496 | KCNQ2 | c.2094C= (p.Val698=) c.2040C= (p.Val680=) c.1437C= (p.Val479=) c.1947C= (p.Val649=) c.1608C= (p.Val536=) c.1956C= (p.Val652=) c.2064C= (p.Val688=) c.2028C= (p.Val676=) c.1986C= (p.Val662=) c.1679+6227C= (n.1679+6227C=) c.2082C= (p.Val694=) c.2148C= (p.Val716=) c.2145C= (p.Val715=) c.2118C= (p.Val706=) c.2037C= (p.Val679=) c.2022C= (p.Val674=) c.1629C= (p.Val543=) c.2091C= (p.Val697=) c.2025C= (p.Val675=) c.1983C= (p.Val661=) c.1056C= (p.Val352=) | |
20 | g.63407223G>T | CA511339423 | KCNQ2 | c.2094C>A (p.Val698=) c.2040C>A (p.Val680=) c.1437C>A (p.Val479=) c.1947C>A (p.Val649=) c.1608C>A (p.Val536=) c.1956C>A (p.Val652=) c.2064C>A (p.Val688=) c.2028C>A (p.Val676=) c.1986C>A (p.Val662=) c.1679+6227C>A (n.1679+6227C>A) c.2082C>A (p.Val694=) c.2148C>A (p.Val716=) c.2145C>A (p.Val715=) c.2118C>A (p.Val706=) c.2037C>A (p.Val679=) c.2022C>A (p.Val674=) c.1629C>A (p.Val543=) c.2091C>A (p.Val697=) c.2025C>A (p.Val675=) c.1983C>A (p.Val661=) c.1056C>A (p.Val352=) | gnomAD v4 |
20 | g.63407224A>C | CA409639123 | KCNQ2 | c.2093T>G (p.Val698Gly) c.2039T>G (p.Val680Gly) c.1436T>G (p.Val479Gly) c.1946T>G (p.Val649Gly) c.1607T>G (p.Val536Gly) c.1955T>G (p.Val652Gly) c.2063T>G (p.Val688Gly) c.2027T>G (p.Val676Gly) c.1985T>G (p.Val662Gly) c.1679+6226T>G (n.1679+6226T>G) c.2081T>G (p.Val694Gly) c.2147T>G (p.Val716Gly) c.2144T>G (p.Val715Gly) c.2117T>G (p.Val706Gly) c.2036T>G (p.Val679Gly) c.2021T>G (p.Val674Gly) c.1628T>G (p.Val543Gly) c.2090T>G (p.Val697Gly) c.2024T>G (p.Val675Gly) c.1982T>G (p.Val661Gly) c.1055T>G (p.Val352Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407224A>G | CA409639124 | KCNQ2 | c.2093T>C (p.Val698Ala) c.2039T>C (p.Val680Ala) c.1436T>C (p.Val479Ala) c.1946T>C (p.Val649Ala) c.1607T>C (p.Val536Ala) c.1955T>C (p.Val652Ala) c.2063T>C (p.Val688Ala) c.2027T>C (p.Val676Ala) c.1985T>C (p.Val662Ala) c.1679+6226T>C (n.1679+6226T>C) c.2081T>C (p.Val694Ala) c.2147T>C (p.Val716Ala) c.2144T>C (p.Val715Ala) c.2117T>C (p.Val706Ala) c.2036T>C (p.Val679Ala) c.2021T>C (p.Val674Ala) c.1628T>C (p.Val543Ala) c.2090T>C (p.Val697Ala) c.2024T>C (p.Val675Ala) c.1982T>C (p.Val661Ala) c.1055T>C (p.Val352Ala) | |
20 | g.63407224A>T | CA409639125 | KCNQ2 | c.2093T>A (p.Val698Asp) c.2039T>A (p.Val680Asp) c.1436T>A (p.Val479Asp) c.1946T>A (p.Val649Asp) c.1607T>A (p.Val536Asp) c.1955T>A (p.Val652Asp) c.2063T>A (p.Val688Asp) c.2027T>A (p.Val676Asp) c.1985T>A (p.Val662Asp) c.1679+6226T>A (n.1679+6226T>A) c.2081T>A (p.Val694Asp) c.2147T>A (p.Val716Asp) c.2144T>A (p.Val715Asp) c.2117T>A (p.Val706Asp) c.2036T>A (p.Val679Asp) c.2021T>A (p.Val674Asp) c.1628T>A (p.Val543Asp) c.2090T>A (p.Val697Asp) c.2024T>A (p.Val675Asp) c.1982T>A (p.Val661Asp) c.1055T>A (p.Val352Asp) | |
20 | g.63407225C>A | CA409639126 | KCNQ2 | c.2092G>T (p.Val698Phe) c.2038G>T (p.Val680Phe) c.1435G>T (p.Val479Phe) c.1945G>T (p.Val649Phe) c.1606G>T (p.Val536Phe) c.1954G>T (p.Val652Phe) c.2062G>T (p.Val688Phe) c.2026G>T (p.Val676Phe) c.1984G>T (p.Val662Phe) c.1679+6225G>T (n.1679+6225G>T) c.2080G>T (p.Val694Phe) c.2146G>T (p.Val716Phe) c.2143G>T (p.Val715Phe) c.2116G>T (p.Val706Phe) c.2035G>T (p.Val679Phe) c.2020G>T (p.Val674Phe) c.1627G>T (p.Val543Phe) c.2089G>T (p.Val697Phe) c.2023G>T (p.Val675Phe) c.1981G>T (p.Val661Phe) c.1054G>T (p.Val352Phe) | |
20 | g.63407225C>G | CA409639127 | KCNQ2 | c.2092G>C (p.Val698Leu) c.2038G>C (p.Val680Leu) c.1435G>C (p.Val479Leu) c.1945G>C (p.Val649Leu) c.1606G>C (p.Val536Leu) c.1954G>C (p.Val652Leu) c.2062G>C (p.Val688Leu) c.2026G>C (p.Val676Leu) c.1984G>C (p.Val662Leu) c.1679+6225G>C (n.1679+6225G>C) c.2080G>C (p.Val694Leu) c.2146G>C (p.Val716Leu) c.2143G>C (p.Val715Leu) c.2116G>C (p.Val706Leu) c.2035G>C (p.Val679Leu) c.2020G>C (p.Val674Leu) c.1627G>C (p.Val543Leu) c.2089G>C (p.Val697Leu) c.2023G>C (p.Val675Leu) c.1981G>C (p.Val661Leu) c.1054G>C (p.Val352Leu) | |
20 | g.63407225C>T | CA409639128 | KCNQ2 | c.2092G>A (p.Val698Ile) c.2038G>A (p.Val680Ile) c.1435G>A (p.Val479Ile) c.1945G>A (p.Val649Ile) c.1606G>A (p.Val536Ile) c.1954G>A (p.Val652Ile) c.2062G>A (p.Val688Ile) c.2026G>A (p.Val676Ile) c.1984G>A (p.Val662Ile) c.1679+6225G>A (n.1679+6225G>A) c.2080G>A (p.Val694Ile) c.2146G>A (p.Val716Ile) c.2143G>A (p.Val715Ile) c.2116G>A (p.Val706Ile) c.2035G>A (p.Val679Ile) c.2020G>A (p.Val674Ile) c.1627G>A (p.Val543Ile) c.2089G>A (p.Val697Ile) c.2023G>A (p.Val675Ile) c.1981G>A (p.Val661Ile) c.1054G>A (p.Val352Ile) | gnomAD v4 |
20 | g.63407226A= | CA2374774497 | KCNQ2 | c.2091T= (p.His697=) c.2037T= (p.His679=) c.1434T= (p.His478=) c.1944T= (p.His648=) c.1605T= (p.His535=) c.1953T= (p.His651=) c.2061T= (p.His687=) c.2025T= (p.His675=) c.1983T= (p.His661=) c.1679+6224T= (n.1679+6224T=) c.2079T= (p.His693=) c.2145T= (p.His715=) c.2142T= (p.His714=) c.2115T= (p.His705=) c.2034T= (p.His678=) c.2019T= (p.His673=) c.1626T= (p.His542=) c.2088T= (p.His696=) c.2022T= (p.His674=) c.1980T= (p.His660=) c.1053T= (p.His351=) | |
20 | g.63407226A>C | CA409639129 | KCNQ2 | c.2091T>G (p.His697Gln) c.2037T>G (p.His679Gln) c.1434T>G (p.His478Gln) c.1944T>G (p.His648Gln) c.1605T>G (p.His535Gln) c.1953T>G (p.His651Gln) c.2061T>G (p.His687Gln) c.2025T>G (p.His675Gln) c.1983T>G (p.His661Gln) c.1679+6224T>G (n.1679+6224T>G) c.2079T>G (p.His693Gln) c.2145T>G (p.His715Gln) c.2142T>G (p.His714Gln) c.2115T>G (p.His705Gln) c.2034T>G (p.His678Gln) c.2019T>G (p.His673Gln) c.1626T>G (p.His542Gln) c.2088T>G (p.His696Gln) c.2022T>G (p.His674Gln) c.1980T>G (p.His660Gln) c.1053T>G (p.His351Gln) | ClinVar |
20 | g.63407226A>G | CA511339427 | KCNQ2 | c.2091T>C (p.His697=) c.2037T>C (p.His679=) c.1434T>C (p.His478=) c.1944T>C (p.His648=) c.1605T>C (p.His535=) c.1953T>C (p.His651=) c.2061T>C (p.His687=) c.2025T>C (p.His675=) c.1983T>C (p.His661=) c.1679+6224T>C (n.1679+6224T>C) c.2079T>C (p.His693=) c.2145T>C (p.His715=) c.2142T>C (p.His714=) c.2115T>C (p.His705=) c.2034T>C (p.His678=) c.2019T>C (p.His673=) c.1626T>C (p.His542=) c.2088T>C (p.His696=) c.2022T>C (p.His674=) c.1980T>C (p.His660=) c.1053T>C (p.His351=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407226A>T | CA409639130 | KCNQ2 | c.2091T>A (p.His697Gln) c.2037T>A (p.His679Gln) c.1434T>A (p.His478Gln) c.1944T>A (p.His648Gln) c.1605T>A (p.His535Gln) c.1953T>A (p.His651Gln) c.2061T>A (p.His687Gln) c.2025T>A (p.His675Gln) c.1983T>A (p.His661Gln) c.1679+6224T>A (n.1679+6224T>A) c.2079T>A (p.His693Gln) c.2145T>A (p.His715Gln) c.2142T>A (p.His714Gln) c.2115T>A (p.His705Gln) c.2034T>A (p.His678Gln) c.2019T>A (p.His673Gln) c.1626T>A (p.His542Gln) c.2088T>A (p.His696Gln) c.2022T>A (p.His674Gln) c.1980T>A (p.His660Gln) c.1053T>A (p.His351Gln) | |
20 | g.63407227T>A | CA409639131 | KCNQ2 | c.2090A>T (p.His697Leu) c.2036A>T (p.His679Leu) c.1433A>T (p.His478Leu) c.1943A>T (p.His648Leu) c.1604A>T (p.His535Leu) c.1952A>T (p.His651Leu) c.2060A>T (p.His687Leu) c.2024A>T (p.His675Leu) c.1982A>T (p.His661Leu) c.1679+6223A>T (n.1679+6223A>T) c.2078A>T (p.His693Leu) c.2144A>T (p.His715Leu) c.2141A>T (p.His714Leu) c.2114A>T (p.His705Leu) c.2033A>T (p.His678Leu) c.2018A>T (p.His673Leu) c.1625A>T (p.His542Leu) c.2087A>T (p.His696Leu) c.2021A>T (p.His674Leu) c.1979A>T (p.His660Leu) c.1052A>T (p.His351Leu) | |
20 | g.63407227T>C | CA9958165 | KCNQ2 | c.2090A>G (p.His697Arg) c.2036A>G (p.His679Arg) c.1433A>G (p.His478Arg) c.1943A>G (p.His648Arg) c.1604A>G (p.His535Arg) c.1952A>G (p.His651Arg) c.2060A>G (p.His687Arg) c.2024A>G (p.His675Arg) c.1982A>G (p.His661Arg) c.1679+6223A>G (n.1679+6223A>G) c.2078A>G (p.His693Arg) c.2144A>G (p.His715Arg) c.2141A>G (p.His714Arg) c.2114A>G (p.His705Arg) c.2033A>G (p.His678Arg) c.2018A>G (p.His673Arg) c.1625A>G (p.His542Arg) c.2087A>G (p.His696Arg) c.2021A>G (p.His674Arg) c.1979A>G (p.His660Arg) c.1052A>G (p.His351Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407227T>G | CA409639132 | KCNQ2 | c.2090A>C (p.His697Pro) c.2036A>C (p.His679Pro) c.1433A>C (p.His478Pro) c.1943A>C (p.His648Pro) c.1604A>C (p.His535Pro) c.1952A>C (p.His651Pro) c.2060A>C (p.His687Pro) c.2024A>C (p.His675Pro) c.1982A>C (p.His661Pro) c.1679+6223A>C (n.1679+6223A>C) c.2078A>C (p.His693Pro) c.2144A>C (p.His715Pro) c.2141A>C (p.His714Pro) c.2114A>C (p.His705Pro) c.2033A>C (p.His678Pro) c.2018A>C (p.His673Pro) c.1625A>C (p.His542Pro) c.2087A>C (p.His696Pro) c.2021A>C (p.His674Pro) c.1979A>C (p.His660Pro) c.1052A>C (p.His351Pro) | |
20 | g.63407227T= | CA2374774498 | KCNQ2 | c.2090A= (p.His697=) c.2036A= (p.His679=) c.1433A= (p.His478=) c.1943A= (p.His648=) c.1604A= (p.His535=) c.1952A= (p.His651=) c.2060A= (p.His687=) c.2024A= (p.His675=) c.1982A= (p.His661=) c.1679+6223A= (n.1679+6223A=) c.2078A= (p.His693=) c.2144A= (p.His715=) c.2141A= (p.His714=) c.2114A= (p.His705=) c.2033A= (p.His678=) c.2018A= (p.His673=) c.1625A= (p.His542=) c.2087A= (p.His696=) c.2021A= (p.His674=) c.1979A= (p.His660=) c.1052A= (p.His351=) | |
20 | g.63407228G>A | CA409639133 | KCNQ2 | c.2089C>T (p.His697Tyr) c.2035C>T (p.His679Tyr) c.1432C>T (p.His478Tyr) c.1942C>T (p.His648Tyr) c.1603C>T (p.His535Tyr) c.1951C>T (p.His651Tyr) c.2059C>T (p.His687Tyr) c.2023C>T (p.His675Tyr) c.1981C>T (p.His661Tyr) c.1679+6222C>T (n.1679+6222C>T) c.2077C>T (p.His693Tyr) c.2143C>T (p.His715Tyr) c.2140C>T (p.His714Tyr) c.2113C>T (p.His705Tyr) c.2032C>T (p.His678Tyr) c.2017C>T (p.His673Tyr) c.1624C>T (p.His542Tyr) c.2086C>T (p.His696Tyr) c.2020C>T (p.His674Tyr) c.1978C>T (p.His660Tyr) c.1051C>T (p.His351Tyr) | COSMIC COSMIC COSMIC |
20 | g.63407228G>C | CA409639134 | KCNQ2 | c.2089C>G (p.His697Asp) c.2035C>G (p.His679Asp) c.1432C>G (p.His478Asp) c.1942C>G (p.His648Asp) c.1603C>G (p.His535Asp) c.1951C>G (p.His651Asp) c.2059C>G (p.His687Asp) c.2023C>G (p.His675Asp) c.1981C>G (p.His661Asp) c.1679+6222C>G (n.1679+6222C>G) c.2077C>G (p.His693Asp) c.2143C>G (p.His715Asp) c.2140C>G (p.His714Asp) c.2113C>G (p.His705Asp) c.2032C>G (p.His678Asp) c.2017C>G (p.His673Asp) c.1624C>G (p.His542Asp) c.2086C>G (p.His696Asp) c.2020C>G (p.His674Asp) c.1978C>G (p.His660Asp) c.1051C>G (p.His351Asp) | |
20 | g.63407228G>T | CA409639135 | KCNQ2 | c.2089C>A (p.His697Asn) c.2035C>A (p.His679Asn) c.1432C>A (p.His478Asn) c.1942C>A (p.His648Asn) c.1603C>A (p.His535Asn) c.1951C>A (p.His651Asn) c.2059C>A (p.His687Asn) c.2023C>A (p.His675Asn) c.1981C>A (p.His661Asn) c.1679+6222C>A (n.1679+6222C>A) c.2077C>A (p.His693Asn) c.2143C>A (p.His715Asn) c.2140C>A (p.His714Asn) c.2113C>A (p.His705Asn) c.2032C>A (p.His678Asn) c.2017C>A (p.His673Asn) c.1624C>A (p.His542Asn) c.2086C>A (p.His696Asn) c.2020C>A (p.His674Asn) c.1978C>A (p.His660Asn) c.1051C>A (p.His351Asn) | gnomAD v4 |
20 | g.63407229C>A | CA409639136 | KCNQ2 | c.2088G>T (p.Glu696Asp) c.2034G>T (p.Glu678Asp) c.1431G>T (p.Glu477Asp) c.1941G>T (p.Glu647Asp) c.1602G>T (p.Glu534Asp) c.1950G>T (p.Glu650Asp) c.2058G>T (p.Glu686Asp) c.2022G>T (p.Glu674Asp) c.1980G>T (p.Glu660Asp) c.1679+6221G>T (n.1679+6221G>T) c.2076G>T (p.Glu692Asp) c.2142G>T (p.Glu714Asp) c.2139G>T (p.Glu713Asp) c.2112G>T (p.Glu704Asp) c.2031G>T (p.Glu677Asp) c.2016G>T (p.Glu672Asp) c.1623G>T (p.Glu541Asp) c.2085G>T (p.Glu695Asp) c.2019G>T (p.Glu673Asp) c.1977G>T (p.Glu659Asp) c.1050G>T (p.Glu350Asp) | gnomAD v4 |
20 | g.63407229C>G | CA409639137 | KCNQ2 | c.2088G>C (p.Glu696Asp) c.2034G>C (p.Glu678Asp) c.1431G>C (p.Glu477Asp) c.1941G>C (p.Glu647Asp) c.1602G>C (p.Glu534Asp) c.1950G>C (p.Glu650Asp) c.2058G>C (p.Glu686Asp) c.2022G>C (p.Glu674Asp) c.1980G>C (p.Glu660Asp) c.1679+6221G>C (n.1679+6221G>C) c.2076G>C (p.Glu692Asp) c.2142G>C (p.Glu714Asp) c.2139G>C (p.Glu713Asp) c.2112G>C (p.Glu704Asp) c.2031G>C (p.Glu677Asp) c.2016G>C (p.Glu672Asp) c.1623G>C (p.Glu541Asp) c.2085G>C (p.Glu695Asp) c.2019G>C (p.Glu673Asp) c.1977G>C (p.Glu659Asp) c.1050G>C (p.Glu350Asp) | |
20 | g.63407229C>T | CA511339429 | KCNQ2 | c.2088G>A (p.Glu696=) c.2034G>A (p.Glu678=) c.1431G>A (p.Glu477=) c.1941G>A (p.Glu647=) c.1602G>A (p.Glu534=) c.1950G>A (p.Glu650=) c.2058G>A (p.Glu686=) c.2022G>A (p.Glu674=) c.1980G>A (p.Glu660=) c.1679+6221G>A (n.1679+6221G>A) c.2076G>A (p.Glu692=) c.2142G>A (p.Glu714=) c.2139G>A (p.Glu713=) c.2112G>A (p.Glu704=) c.2031G>A (p.Glu677=) c.2016G>A (p.Glu672=) c.1623G>A (p.Glu541=) c.2085G>A (p.Glu695=) c.2019G>A (p.Glu673=) c.1977G>A (p.Glu659=) c.1050G>A (p.Glu350=) | gnomAD v4 |
20 | g.63407230T>A | CA409639138 | KCNQ2 | c.2087A>T (p.Glu696Val) c.2033A>T (p.Glu678Val) c.1430A>T (p.Glu477Val) c.1940A>T (p.Glu647Val) c.1601A>T (p.Glu534Val) c.1949A>T (p.Glu650Val) c.2057A>T (p.Glu686Val) c.2021A>T (p.Glu674Val) c.1979A>T (p.Glu660Val) c.1679+6220A>T (n.1679+6220A>T) c.2075A>T (p.Glu692Val) c.2141A>T (p.Glu714Val) c.2138A>T (p.Glu713Val) c.2111A>T (p.Glu704Val) c.2030A>T (p.Glu677Val) c.2015A>T (p.Glu672Val) c.1622A>T (p.Glu541Val) c.2084A>T (p.Glu695Val) c.2018A>T (p.Glu673Val) c.1976A>T (p.Glu659Val) c.1049A>T (p.Glu350Val) | |
20 | g.63407230T>C | CA409639139 | KCNQ2 | c.2087A>G (p.Glu696Gly) c.2033A>G (p.Glu678Gly) c.1430A>G (p.Glu477Gly) c.1940A>G (p.Glu647Gly) c.1601A>G (p.Glu534Gly) c.1949A>G (p.Glu650Gly) c.2057A>G (p.Glu686Gly) c.2021A>G (p.Glu674Gly) c.1979A>G (p.Glu660Gly) c.1679+6220A>G (n.1679+6220A>G) c.2075A>G (p.Glu692Gly) c.2141A>G (p.Glu714Gly) c.2138A>G (p.Glu713Gly) c.2111A>G (p.Glu704Gly) c.2030A>G (p.Glu677Gly) c.2015A>G (p.Glu672Gly) c.1622A>G (p.Glu541Gly) c.2084A>G (p.Glu695Gly) c.2018A>G (p.Glu673Gly) c.1976A>G (p.Glu659Gly) c.1049A>G (p.Glu350Gly) | |
20 | g.63407230T>G | CA409639140 | KCNQ2 | c.2087A>C (p.Glu696Ala) c.2033A>C (p.Glu678Ala) c.1430A>C (p.Glu477Ala) c.1940A>C (p.Glu647Ala) c.1601A>C (p.Glu534Ala) c.1949A>C (p.Glu650Ala) c.2057A>C (p.Glu686Ala) c.2021A>C (p.Glu674Ala) c.1979A>C (p.Glu660Ala) c.1679+6220A>C (n.1679+6220A>C) c.2075A>C (p.Glu692Ala) c.2141A>C (p.Glu714Ala) c.2138A>C (p.Glu713Ala) c.2111A>C (p.Glu704Ala) c.2030A>C (p.Glu677Ala) c.2015A>C (p.Glu672Ala) c.1622A>C (p.Glu541Ala) c.2084A>C (p.Glu695Ala) c.2018A>C (p.Glu673Ala) c.1976A>C (p.Glu659Ala) c.1049A>C (p.Glu350Ala) | |
20 | g.63407231C>A | CA409639141 | KCNQ2 | c.2086G>T (p.Glu696Ter) c.2032G>T (p.Glu678Ter) c.1429G>T (p.Glu477Ter) c.1939G>T (p.Glu647Ter) c.1600G>T (p.Glu534Ter) c.1948G>T (p.Glu650Ter) c.2056G>T (p.Glu686Ter) c.2020G>T (p.Glu674Ter) c.1978G>T (p.Glu660Ter) c.1679+6219G>T (n.1679+6219G>T) c.2074G>T (p.Glu692Ter) c.2140G>T (p.Glu714Ter) c.2137G>T (p.Glu713Ter) c.2110G>T (p.Glu704Ter) c.2029G>T (p.Glu677Ter) c.2014G>T (p.Glu672Ter) c.1621G>T (p.Glu541Ter) c.2083G>T (p.Glu695Ter) c.2017G>T (p.Glu673Ter) c.1975G>T (p.Glu659Ter) c.1048G>T (p.Glu350Ter) | gnomAD v4 |
20 | g.63407231C= | CA2374774499 | KCNQ2 | c.2086G= (p.Glu696=) c.2032G= (p.Glu678=) c.1429G= (p.Glu477=) c.1939G= (p.Glu647=) c.1600G= (p.Glu534=) c.1948G= (p.Glu650=) c.2056G= (p.Glu686=) c.2020G= (p.Glu674=) c.1978G= (p.Glu660=) c.1679+6219G= (n.1679+6219G=) c.2074G= (p.Glu692=) c.2140G= (p.Glu714=) c.2137G= (p.Glu713=) c.2110G= (p.Glu704=) c.2029G= (p.Glu677=) c.2014G= (p.Glu672=) c.1621G= (p.Glu541=) c.2083G= (p.Glu695=) c.2017G= (p.Glu673=) c.1975G= (p.Glu659=) c.1048G= (p.Glu350=) | |
20 | g.63407231C>G | CA409639142 | KCNQ2 | c.2086G>C (p.Glu696Gln) c.2032G>C (p.Glu678Gln) c.1429G>C (p.Glu477Gln) c.1939G>C (p.Glu647Gln) c.1600G>C (p.Glu534Gln) c.1948G>C (p.Glu650Gln) c.2056G>C (p.Glu686Gln) c.2020G>C (p.Glu674Gln) c.1978G>C (p.Glu660Gln) c.1679+6219G>C (n.1679+6219G>C) c.2074G>C (p.Glu692Gln) c.2140G>C (p.Glu714Gln) c.2137G>C (p.Glu713Gln) c.2110G>C (p.Glu704Gln) c.2029G>C (p.Glu677Gln) c.2014G>C (p.Glu672Gln) c.1621G>C (p.Glu541Gln) c.2083G>C (p.Glu695Gln) c.2017G>C (p.Glu673Gln) c.1975G>C (p.Glu659Gln) c.1048G>C (p.Glu350Gln) | |
20 | g.63407231C>T | CA409639143 | KCNQ2 | c.2086G>A (p.Glu696Lys) c.2032G>A (p.Glu678Lys) c.1429G>A (p.Glu477Lys) c.1939G>A (p.Glu647Lys) c.1600G>A (p.Glu534Lys) c.1948G>A (p.Glu650Lys) c.2056G>A (p.Glu686Lys) c.2020G>A (p.Glu674Lys) c.1978G>A (p.Glu660Lys) c.1679+6219G>A (n.1679+6219G>A) c.2074G>A (p.Glu692Lys) c.2140G>A (p.Glu714Lys) c.2137G>A (p.Glu713Lys) c.2110G>A (p.Glu704Lys) c.2029G>A (p.Glu677Lys) c.2014G>A (p.Glu672Lys) c.1621G>A (p.Glu541Lys) c.2083G>A (p.Glu695Lys) c.2017G>A (p.Glu673Lys) c.1975G>A (p.Glu659Lys) c.1048G>A (p.Glu350Lys) | ClinVar dbSNP gnomAD v4 |
20 | g.63407233dup | CA2695230036 | KCNQ2 | c.2086dup (p.Glu696GlyfsTer?) c.2032dup (p.Glu678GlyfsTer?) c.1429dup (p.Glu477GlyfsTer?) c.1939dup (p.Glu647GlyfsTer?) c.1600dup (p.Glu534GlyfsTer?) c.1948dup (p.Glu650GlyfsTer?) c.2056dup (p.Glu686GlyfsTer?) c.2020dup (p.Glu674GlyfsTer?) c.1978dup (p.Glu660GlyfsTer?) c.1679+6219dup (n.1679+6219dup) c.2074dup (p.Glu692GlyfsTer?) c.2140dup (p.Glu714GlyfsTer?) c.2137dup (p.Glu713GlyfsTer?) c.2110dup (p.Glu704GlyfsTer?) c.2029dup (p.Glu677GlyfsTer?) c.2014dup (p.Glu672GlyfsTer?) c.1621dup (p.Glu541GlyfsTer?) c.2083dup (p.Glu695GlyfsTer?) c.2017dup (p.Glu673GlyfsTer?) c.1975dup (p.Glu659GlyfsTer?) c.1048dup (p.Glu350GlyfsTer?) | |
20 | g.63407233del | CA2573157306 | KCNQ2 | c.2086del (p.Glu696SerfsTer?) c.2032del (p.Glu678SerfsTer?) c.1429del (p.Glu477SerfsTer?) c.1939del (p.Glu647SerfsTer?) c.1600del (p.Glu534SerfsTer?) c.1948del (p.Glu650SerfsTer?) c.2056del (p.Glu686SerfsTer?) c.2020del (p.Glu674SerfsTer?) c.1978del (p.Glu660SerfsTer?) c.1679+6219del (n.1679+6219del) c.2074del (p.Glu692SerfsTer?) c.2140del (p.Glu714SerfsTer?) c.2137del (p.Glu713SerfsTer?) c.2110del (p.Glu704SerfsTer?) c.2029del (p.Glu677SerfsTer?) c.2014del (p.Glu672SerfsTer?) c.1621del (p.Glu541SerfsTer?) c.2083del (p.Glu695SerfsTer?) c.2017del (p.Glu673SerfsTer?) c.1975del (p.Glu659SerfsTer?) c.1048del (p.Glu350SerfsTer?) | ClinVar dbSNP |
20 | g.63407232C>A | CA511339432 | KCNQ2 | c.2085G>T (p.Arg695=) c.2031G>T (p.Arg677=) c.1428G>T (p.Arg476=) c.1938G>T (p.Arg646=) c.1599G>T (p.Arg533=) c.1947G>T (p.Arg649=) c.2055G>T (p.Arg685=) c.2019G>T (p.Arg673=) c.1977G>T (p.Arg659=) c.1679+6218G>T (n.1679+6218G>T) c.2073G>T (p.Arg691=) c.2139G>T (p.Arg713=) c.2136G>T (p.Arg712=) c.2109G>T (p.Arg703=) c.2028G>T (p.Arg676=) c.2013G>T (p.Arg671=) c.1620G>T (p.Arg540=) c.2082G>T (p.Arg694=) c.2016G>T (p.Arg672=) c.1974G>T (p.Arg658=) c.1047G>T (p.Arg349=) | gnomAD v4 |
20 | g.63407232C= | CA2374774500 | KCNQ2 | c.2085G= (p.Arg695=) c.2031G= (p.Arg677=) c.1428G= (p.Arg476=) c.1938G= (p.Arg646=) c.1599G= (p.Arg533=) c.1947G= (p.Arg649=) c.2055G= (p.Arg685=) c.2019G= (p.Arg673=) c.1977G= (p.Arg659=) c.1679+6218G= (n.1679+6218G=) c.2073G= (p.Arg691=) c.2139G= (p.Arg713=) c.2136G= (p.Arg712=) c.2109G= (p.Arg703=) c.2028G= (p.Arg676=) c.2013G= (p.Arg671=) c.1620G= (p.Arg540=) c.2082G= (p.Arg694=) c.2016G= (p.Arg672=) c.1974G= (p.Arg658=) c.1047G= (p.Arg349=) | |
20 | g.63407232C>G | CA511339433 | KCNQ2 | c.2085G>C (p.Arg695=) c.2031G>C (p.Arg677=) c.1428G>C (p.Arg476=) c.1938G>C (p.Arg646=) c.1599G>C (p.Arg533=) c.1947G>C (p.Arg649=) c.2055G>C (p.Arg685=) c.2019G>C (p.Arg673=) c.1977G>C (p.Arg659=) c.1679+6218G>C (n.1679+6218G>C) c.2073G>C (p.Arg691=) c.2139G>C (p.Arg713=) c.2136G>C (p.Arg712=) c.2109G>C (p.Arg703=) c.2028G>C (p.Arg676=) c.2013G>C (p.Arg671=) c.1620G>C (p.Arg540=) c.2082G>C (p.Arg694=) c.2016G>C (p.Arg672=) c.1974G>C (p.Arg658=) c.1047G>C (p.Arg349=) | |
20 | g.63407232C>T | CA288930 | KCNQ2 | c.2085G>A (p.Arg695=) c.2031G>A (p.Arg677=) c.1428G>A (p.Arg476=) c.1938G>A (p.Arg646=) c.1599G>A (p.Arg533=) c.1947G>A (p.Arg649=) c.2055G>A (p.Arg685=) c.2019G>A (p.Arg673=) c.1977G>A (p.Arg659=) c.1679+6218G>A (n.1679+6218G>A) c.2073G>A (p.Arg691=) c.2139G>A (p.Arg713=) c.2136G>A (p.Arg712=) c.2109G>A (p.Arg703=) c.2028G>A (p.Arg676=) c.2013G>A (p.Arg671=) c.1620G>A (p.Arg540=) c.2082G>A (p.Arg694=) c.2016G>A (p.Arg672=) c.1974G>A (p.Arg658=) c.1047G>A (p.Arg349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407233C>A | CA409639144 | KCNQ2 | c.2084G>T (p.Arg695Leu) c.2030G>T (p.Arg677Leu) c.1427G>T (p.Arg476Leu) c.1937G>T (p.Arg646Leu) c.1598G>T (p.Arg533Leu) c.1946G>T (p.Arg649Leu) c.2054G>T (p.Arg685Leu) c.2018G>T (p.Arg673Leu) c.1976G>T (p.Arg659Leu) c.1679+6217G>T (n.1679+6217G>T) c.2072G>T (p.Arg691Leu) c.2138G>T (p.Arg713Leu) c.2135G>T (p.Arg712Leu) c.2108G>T (p.Arg703Leu) c.2027G>T (p.Arg676Leu) c.2012G>T (p.Arg671Leu) c.1619G>T (p.Arg540Leu) c.2081G>T (p.Arg694Leu) c.2015G>T (p.Arg672Leu) c.1973G>T (p.Arg658Leu) c.1046G>T (p.Arg349Leu) | gnomAD v4 |
20 | g.63407233C= | CA2374774501 | KCNQ2 | c.2084G= (p.Arg695=) c.2030G= (p.Arg677=) c.1427G= (p.Arg476=) c.1937G= (p.Arg646=) c.1598G= (p.Arg533=) c.1946G= (p.Arg649=) c.2054G= (p.Arg685=) c.2018G= (p.Arg673=) c.1976G= (p.Arg659=) c.1679+6217G= (n.1679+6217G=) c.2072G= (p.Arg691=) c.2138G= (p.Arg713=) c.2135G= (p.Arg712=) c.2108G= (p.Arg703=) c.2027G= (p.Arg676=) c.2012G= (p.Arg671=) c.1619G= (p.Arg540=) c.2081G= (p.Arg694=) c.2015G= (p.Arg672=) c.1973G= (p.Arg658=) c.1046G= (p.Arg349=) | |
20 | g.63407233C>G | CA409639145 | KCNQ2 | c.2084G>C (p.Arg695Pro) c.2030G>C (p.Arg677Pro) c.1427G>C (p.Arg476Pro) c.1937G>C (p.Arg646Pro) c.1598G>C (p.Arg533Pro) c.1946G>C (p.Arg649Pro) c.2054G>C (p.Arg685Pro) c.2018G>C (p.Arg673Pro) c.1976G>C (p.Arg659Pro) c.1679+6217G>C (n.1679+6217G>C) c.2072G>C (p.Arg691Pro) c.2138G>C (p.Arg713Pro) c.2135G>C (p.Arg712Pro) c.2108G>C (p.Arg703Pro) c.2027G>C (p.Arg676Pro) c.2012G>C (p.Arg671Pro) c.1619G>C (p.Arg540Pro) c.2081G>C (p.Arg694Pro) c.2015G>C (p.Arg672Pro) c.1973G>C (p.Arg658Pro) c.1046G>C (p.Arg349Pro) | ClinVar dbSNP |
20 | g.63407233C>T | CA409639146 | KCNQ2 | c.2084G>A (p.Arg695Gln) c.2030G>A (p.Arg677Gln) c.1427G>A (p.Arg476Gln) c.1937G>A (p.Arg646Gln) c.1598G>A (p.Arg533Gln) c.1946G>A (p.Arg649Gln) c.2054G>A (p.Arg685Gln) c.2018G>A (p.Arg673Gln) c.1976G>A (p.Arg659Gln) c.1679+6217G>A (n.1679+6217G>A) c.2072G>A (p.Arg691Gln) c.2138G>A (p.Arg713Gln) c.2135G>A (p.Arg712Gln) c.2108G>A (p.Arg703Gln) c.2027G>A (p.Arg676Gln) c.2012G>A (p.Arg671Gln) c.1619G>A (p.Arg540Gln) c.2081G>A (p.Arg694Gln) c.2015G>A (p.Arg672Gln) c.1973G>A (p.Arg658Gln) c.1046G>A (p.Arg349Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407234G>A | CA9958166 | KCNQ2 | c.2083C>T (p.Arg695Trp) c.2029C>T (p.Arg677Trp) c.1426C>T (p.Arg476Trp) c.1936C>T (p.Arg646Trp) c.1597C>T (p.Arg533Trp) c.1945C>T (p.Arg649Trp) c.2053C>T (p.Arg685Trp) c.2017C>T (p.Arg673Trp) c.1975C>T (p.Arg659Trp) c.1679+6216C>T (n.1679+6216C>T) c.2071C>T (p.Arg691Trp) c.2137C>T (p.Arg713Trp) c.2134C>T (p.Arg712Trp) c.2107C>T (p.Arg703Trp) c.2026C>T (p.Arg676Trp) c.2011C>T (p.Arg671Trp) c.1618C>T (p.Arg540Trp) c.2080C>T (p.Arg694Trp) c.2014C>T (p.Arg672Trp) c.1972C>T (p.Arg658Trp) c.1045C>T (p.Arg349Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407234G>C | CA409639147 | KCNQ2 | c.2083C>G (p.Arg695Gly) c.2029C>G (p.Arg677Gly) c.1426C>G (p.Arg476Gly) c.1936C>G (p.Arg646Gly) c.1597C>G (p.Arg533Gly) c.1945C>G (p.Arg649Gly) c.2053C>G (p.Arg685Gly) c.2017C>G (p.Arg673Gly) c.1975C>G (p.Arg659Gly) c.1679+6216C>G (n.1679+6216C>G) c.2071C>G (p.Arg691Gly) c.2137C>G (p.Arg713Gly) c.2134C>G (p.Arg712Gly) c.2107C>G (p.Arg703Gly) c.2026C>G (p.Arg676Gly) c.2011C>G (p.Arg671Gly) c.1618C>G (p.Arg540Gly) c.2080C>G (p.Arg694Gly) c.2014C>G (p.Arg672Gly) c.1972C>G (p.Arg658Gly) c.1045C>G (p.Arg349Gly) | |
20 | g.63407234G= | CA2374774502 | KCNQ2 | c.2083C= (p.Arg695=) c.2029C= (p.Arg677=) c.1426C= (p.Arg476=) c.1936C= (p.Arg646=) c.1597C= (p.Arg533=) c.1945C= (p.Arg649=) c.2053C= (p.Arg685=) c.2017C= (p.Arg673=) c.1975C= (p.Arg659=) c.1679+6216C= (n.1679+6216C=) c.2071C= (p.Arg691=) c.2137C= (p.Arg713=) c.2134C= (p.Arg712=) c.2107C= (p.Arg703=) c.2026C= (p.Arg676=) c.2011C= (p.Arg671=) c.1618C= (p.Arg540=) c.2080C= (p.Arg694=) c.2014C= (p.Arg672=) c.1972C= (p.Arg658=) c.1045C= (p.Arg349=) | |
20 | g.63407234G>T | CA9958167 | KCNQ2 | c.2083C>A (p.Arg695=) c.2029C>A (p.Arg677=) c.1426C>A (p.Arg476=) c.1936C>A (p.Arg646=) c.1597C>A (p.Arg533=) c.1945C>A (p.Arg649=) c.2053C>A (p.Arg685=) c.2017C>A (p.Arg673=) c.1975C>A (p.Arg659=) c.1679+6216C>A (n.1679+6216C>A) c.2071C>A (p.Arg691=) c.2137C>A (p.Arg713=) c.2134C>A (p.Arg712=) c.2107C>A (p.Arg703=) c.2026C>A (p.Arg676=) c.2011C>A (p.Arg671=) c.1618C>A (p.Arg540=) c.2080C>A (p.Arg694=) c.2014C>A (p.Arg672=) c.1972C>A (p.Arg658=) c.1045C>A (p.Arg349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407235G>A | CA511339436 | KCNQ2 | c.2082C>T (p.Ser694=) c.2028C>T (p.Ser676=) c.1425C>T (p.Ser475=) c.1935C>T (p.Ser645=) c.1596C>T (p.Ser532=) c.1944C>T (p.Ser648=) c.2052C>T (p.Ser684=) c.2016C>T (p.Ser672=) c.1974C>T (p.Ser658=) c.1679+6215C>T (n.1679+6215C>T) c.2070C>T (p.Ser690=) c.2136C>T (p.Ser712=) c.2133C>T (p.Ser711=) c.2106C>T (p.Ser702=) c.2025C>T (p.Ser675=) c.2010C>T (p.Ser670=) c.1617C>T (p.Ser539=) c.2079C>T (p.Ser693=) c.2013C>T (p.Ser671=) c.1971C>T (p.Ser657=) c.1044C>T (p.Ser348=) | gnomAD v4 |
20 | g.63407235G>C | CA409639149 | KCNQ2 | c.2082C>G (p.Ser694Arg) c.2028C>G (p.Ser676Arg) c.1425C>G (p.Ser475Arg) c.1935C>G (p.Ser645Arg) c.1596C>G (p.Ser532Arg) c.1944C>G (p.Ser648Arg) c.2052C>G (p.Ser684Arg) c.2016C>G (p.Ser672Arg) c.1974C>G (p.Ser658Arg) c.1679+6215C>G (n.1679+6215C>G) c.2070C>G (p.Ser690Arg) c.2136C>G (p.Ser712Arg) c.2133C>G (p.Ser711Arg) c.2106C>G (p.Ser702Arg) c.2025C>G (p.Ser675Arg) c.2010C>G (p.Ser670Arg) c.1617C>G (p.Ser539Arg) c.2079C>G (p.Ser693Arg) c.2013C>G (p.Ser671Arg) c.1971C>G (p.Ser657Arg) c.1044C>G (p.Ser348Arg) | gnomAD v4 |
20 | g.63407235G>T | CA409639148 | KCNQ2 | c.2082C>A (p.Ser694Arg) c.2028C>A (p.Ser676Arg) c.1425C>A (p.Ser475Arg) c.1935C>A (p.Ser645Arg) c.1596C>A (p.Ser532Arg) c.1944C>A (p.Ser648Arg) c.2052C>A (p.Ser684Arg) c.2016C>A (p.Ser672Arg) c.1974C>A (p.Ser658Arg) c.1679+6215C>A (n.1679+6215C>A) c.2070C>A (p.Ser690Arg) c.2136C>A (p.Ser712Arg) c.2133C>A (p.Ser711Arg) c.2106C>A (p.Ser702Arg) c.2025C>A (p.Ser675Arg) c.2010C>A (p.Ser670Arg) c.1617C>A (p.Ser539Arg) c.2079C>A (p.Ser693Arg) c.2013C>A (p.Ser671Arg) c.1971C>A (p.Ser657Arg) c.1044C>A (p.Ser348Arg) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407236C>A | CA409639150 | KCNQ2 | c.2081G>T (p.Ser694Ile) c.2027G>T (p.Ser676Ile) c.1424G>T (p.Ser475Ile) c.1934G>T (p.Ser645Ile) c.1595G>T (p.Ser532Ile) c.1943G>T (p.Ser648Ile) c.2051G>T (p.Ser684Ile) c.2015G>T (p.Ser672Ile) c.1973G>T (p.Ser658Ile) c.1679+6214G>T (n.1679+6214G>T) c.2069G>T (p.Ser690Ile) c.2135G>T (p.Ser712Ile) c.2132G>T (p.Ser711Ile) c.2105G>T (p.Ser702Ile) c.2024G>T (p.Ser675Ile) c.2009G>T (p.Ser670Ile) c.1616G>T (p.Ser539Ile) c.2078G>T (p.Ser693Ile) c.2012G>T (p.Ser671Ile) c.1970G>T (p.Ser657Ile) c.1043G>T (p.Ser348Ile) | |
20 | g.63407236C>G | CA409639152 | KCNQ2 | c.2081G>C (p.Ser694Thr) c.2027G>C (p.Ser676Thr) c.1424G>C (p.Ser475Thr) c.1934G>C (p.Ser645Thr) c.1595G>C (p.Ser532Thr) c.1943G>C (p.Ser648Thr) c.2051G>C (p.Ser684Thr) c.2015G>C (p.Ser672Thr) c.1973G>C (p.Ser658Thr) c.1679+6214G>C (n.1679+6214G>C) c.2069G>C (p.Ser690Thr) c.2135G>C (p.Ser712Thr) c.2132G>C (p.Ser711Thr) c.2105G>C (p.Ser702Thr) c.2024G>C (p.Ser675Thr) c.2009G>C (p.Ser670Thr) c.1616G>C (p.Ser539Thr) c.2078G>C (p.Ser693Thr) c.2012G>C (p.Ser671Thr) c.1970G>C (p.Ser657Thr) c.1043G>C (p.Ser348Thr) | |
20 | g.63407236C>T | CA409639151 | KCNQ2 | c.2081G>A (p.Ser694Asn) c.2027G>A (p.Ser676Asn) c.1424G>A (p.Ser475Asn) c.1934G>A (p.Ser645Asn) c.1595G>A (p.Ser532Asn) c.1943G>A (p.Ser648Asn) c.2051G>A (p.Ser684Asn) c.2015G>A (p.Ser672Asn) c.1973G>A (p.Ser658Asn) c.1679+6214G>A (n.1679+6214G>A) c.2069G>A (p.Ser690Asn) c.2135G>A (p.Ser712Asn) c.2132G>A (p.Ser711Asn) c.2105G>A (p.Ser702Asn) c.2024G>A (p.Ser675Asn) c.2009G>A (p.Ser670Asn) c.1616G>A (p.Ser539Asn) c.2078G>A (p.Ser693Asn) c.2012G>A (p.Ser671Asn) c.1970G>A (p.Ser657Asn) c.1043G>A (p.Ser348Asn) | gnomAD v4 |
20 | g.63407237T>A | CA409639153 | KCNQ2 | c.2080A>T (p.Ser694Cys) c.2026A>T (p.Ser676Cys) c.1423A>T (p.Ser475Cys) c.1933A>T (p.Ser645Cys) c.1594A>T (p.Ser532Cys) c.1942A>T (p.Ser648Cys) c.2050A>T (p.Ser684Cys) c.2014A>T (p.Ser672Cys) c.1972A>T (p.Ser658Cys) c.1679+6213A>T (n.1679+6213A>T) c.2068A>T (p.Ser690Cys) c.2134A>T (p.Ser712Cys) c.2131A>T (p.Ser711Cys) c.2104A>T (p.Ser702Cys) c.2023A>T (p.Ser675Cys) c.2008A>T (p.Ser670Cys) c.1615A>T (p.Ser539Cys) c.2077A>T (p.Ser693Cys) c.2011A>T (p.Ser671Cys) c.1969A>T (p.Ser657Cys) c.1042A>T (p.Ser348Cys) | |
20 | g.63407237T>C | CA409639154 | KCNQ2 | c.2080A>G (p.Ser694Gly) c.2026A>G (p.Ser676Gly) c.1423A>G (p.Ser475Gly) c.1933A>G (p.Ser645Gly) c.1594A>G (p.Ser532Gly) c.1942A>G (p.Ser648Gly) c.2050A>G (p.Ser684Gly) c.2014A>G (p.Ser672Gly) c.1972A>G (p.Ser658Gly) c.1679+6213A>G (n.1679+6213A>G) c.2068A>G (p.Ser690Gly) c.2134A>G (p.Ser712Gly) c.2131A>G (p.Ser711Gly) c.2104A>G (p.Ser702Gly) c.2023A>G (p.Ser675Gly) c.2008A>G (p.Ser670Gly) c.1615A>G (p.Ser539Gly) c.2077A>G (p.Ser693Gly) c.2011A>G (p.Ser671Gly) c.1969A>G (p.Ser657Gly) c.1042A>G (p.Ser348Gly) | |
20 | g.63407237T>G | CA409639155 | KCNQ2 | c.2080A>C (p.Ser694Arg) c.2026A>C (p.Ser676Arg) c.1423A>C (p.Ser475Arg) c.1933A>C (p.Ser645Arg) c.1594A>C (p.Ser532Arg) c.1942A>C (p.Ser648Arg) c.2050A>C (p.Ser684Arg) c.2014A>C (p.Ser672Arg) c.1972A>C (p.Ser658Arg) c.1679+6213A>C (n.1679+6213A>C) c.2068A>C (p.Ser690Arg) c.2134A>C (p.Ser712Arg) c.2131A>C (p.Ser711Arg) c.2104A>C (p.Ser702Arg) c.2023A>C (p.Ser675Arg) c.2008A>C (p.Ser670Arg) c.1615A>C (p.Ser539Arg) c.2077A>C (p.Ser693Arg) c.2011A>C (p.Ser671Arg) c.1969A>C (p.Ser657Arg) c.1042A>C (p.Ser348Arg) | |
20 | g.63407238G>A | CA511339437 | KCNQ2 | c.2079C>T (p.Asp693=) c.2025C>T (p.Asp675=) c.1422C>T (p.Asp474=) c.1932C>T (p.Asp644=) c.1593C>T (p.Asp531=) c.1941C>T (p.Asp647=) c.2049C>T (p.Asp683=) c.2013C>T (p.Asp671=) c.1971C>T (p.Asp657=) c.1679+6212C>T (n.1679+6212C>T) c.2067C>T (p.Asp689=) c.2133C>T (p.Asp711=) c.2130C>T (p.Asp710=) c.2103C>T (p.Asp701=) c.2022C>T (p.Asp674=) c.2007C>T (p.Asp669=) c.1614C>T (p.Asp538=) c.2076C>T (p.Asp692=) c.2010C>T (p.Asp670=) c.1968C>T (p.Asp656=) c.1041C>T (p.Asp347=) | ClinVar gnomAD v4 |
20 | g.63407238G>C | CA9958168 | KCNQ2 | c.2079C>G (p.Asp693Glu) c.2025C>G (p.Asp675Glu) c.1422C>G (p.Asp474Glu) c.1932C>G (p.Asp644Glu) c.1593C>G (p.Asp531Glu) c.1941C>G (p.Asp647Glu) c.2049C>G (p.Asp683Glu) c.2013C>G (p.Asp671Glu) c.1971C>G (p.Asp657Glu) c.1679+6212C>G (n.1679+6212C>G) c.2067C>G (p.Asp689Glu) c.2133C>G (p.Asp711Glu) c.2130C>G (p.Asp710Glu) c.2103C>G (p.Asp701Glu) c.2022C>G (p.Asp674Glu) c.2007C>G (p.Asp669Glu) c.1614C>G (p.Asp538Glu) c.2076C>G (p.Asp692Glu) c.2010C>G (p.Asp670Glu) c.1968C>G (p.Asp656Glu) c.1041C>G (p.Asp347Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407238G= | CA2374774503 | KCNQ2 | c.2079C= (p.Asp693=) c.2025C= (p.Asp675=) c.1422C= (p.Asp474=) c.1932C= (p.Asp644=) c.1593C= (p.Asp531=) c.1941C= (p.Asp647=) c.2049C= (p.Asp683=) c.2013C= (p.Asp671=) c.1971C= (p.Asp657=) c.1679+6212C= (n.1679+6212C=) c.2067C= (p.Asp689=) c.2133C= (p.Asp711=) c.2130C= (p.Asp710=) c.2103C= (p.Asp701=) c.2022C= (p.Asp674=) c.2007C= (p.Asp669=) c.1614C= (p.Asp538=) c.2076C= (p.Asp692=) c.2010C= (p.Asp670=) c.1968C= (p.Asp656=) c.1041C= (p.Asp347=) | |
20 | g.63407238G>T | CA409639156 | KCNQ2 | c.2079C>A (p.Asp693Glu) c.2025C>A (p.Asp675Glu) c.1422C>A (p.Asp474Glu) c.1932C>A (p.Asp644Glu) c.1593C>A (p.Asp531Glu) c.1941C>A (p.Asp647Glu) c.2049C>A (p.Asp683Glu) c.2013C>A (p.Asp671Glu) c.1971C>A (p.Asp657Glu) c.1679+6212C>A (n.1679+6212C>A) c.2067C>A (p.Asp689Glu) c.2133C>A (p.Asp711Glu) c.2130C>A (p.Asp710Glu) c.2103C>A (p.Asp701Glu) c.2022C>A (p.Asp674Glu) c.2007C>A (p.Asp669Glu) c.1614C>A (p.Asp538Glu) c.2076C>A (p.Asp692Glu) c.2010C>A (p.Asp670Glu) c.1968C>A (p.Asp656Glu) c.1041C>A (p.Asp347Glu) | gnomAD v4 |
20 | g.63407239T>A | CA409639157 | KCNQ2 | c.2078A>T (p.Asp693Val) c.2024A>T (p.Asp675Val) c.1421A>T (p.Asp474Val) c.1931A>T (p.Asp644Val) c.1592A>T (p.Asp531Val) c.1940A>T (p.Asp647Val) c.2048A>T (p.Asp683Val) c.2012A>T (p.Asp671Val) c.1970A>T (p.Asp657Val) c.1679+6211A>T (n.1679+6211A>T) c.2066A>T (p.Asp689Val) c.2132A>T (p.Asp711Val) c.2129A>T (p.Asp710Val) c.2102A>T (p.Asp701Val) c.2021A>T (p.Asp674Val) c.2006A>T (p.Asp669Val) c.1613A>T (p.Asp538Val) c.2075A>T (p.Asp692Val) c.2009A>T (p.Asp670Val) c.1967A>T (p.Asp656Val) c.1040A>T (p.Asp347Val) | |
20 | g.63407239T>C | CA409639158 | KCNQ2 | c.2078A>G (p.Asp693Gly) c.2024A>G (p.Asp675Gly) c.1421A>G (p.Asp474Gly) c.1931A>G (p.Asp644Gly) c.1592A>G (p.Asp531Gly) c.1940A>G (p.Asp647Gly) c.2048A>G (p.Asp683Gly) c.2012A>G (p.Asp671Gly) c.1970A>G (p.Asp657Gly) c.1679+6211A>G (n.1679+6211A>G) c.2066A>G (p.Asp689Gly) c.2132A>G (p.Asp711Gly) c.2129A>G (p.Asp710Gly) c.2102A>G (p.Asp701Gly) c.2021A>G (p.Asp674Gly) c.2006A>G (p.Asp669Gly) c.1613A>G (p.Asp538Gly) c.2075A>G (p.Asp692Gly) c.2009A>G (p.Asp670Gly) c.1967A>G (p.Asp656Gly) c.1040A>G (p.Asp347Gly) | dbSNP gnomAD v2 |
20 | g.63407239T>G | CA409639159 | KCNQ2 | c.2078A>C (p.Asp693Ala) c.2024A>C (p.Asp675Ala) c.1421A>C (p.Asp474Ala) c.1931A>C (p.Asp644Ala) c.1592A>C (p.Asp531Ala) c.1940A>C (p.Asp647Ala) c.2048A>C (p.Asp683Ala) c.2012A>C (p.Asp671Ala) c.1970A>C (p.Asp657Ala) c.1679+6211A>C (n.1679+6211A>C) c.2066A>C (p.Asp689Ala) c.2132A>C (p.Asp711Ala) c.2129A>C (p.Asp710Ala) c.2102A>C (p.Asp701Ala) c.2021A>C (p.Asp674Ala) c.2006A>C (p.Asp669Ala) c.1613A>C (p.Asp538Ala) c.2075A>C (p.Asp692Ala) c.2009A>C (p.Asp670Ala) c.1967A>C (p.Asp656Ala) c.1040A>C (p.Asp347Ala) | |
20 | g.63407239T= | CA2374774504 | KCNQ2 | c.2078A= (p.Asp693=) c.2024A= (p.Asp675=) c.1421A= (p.Asp474=) c.1931A= (p.Asp644=) c.1592A= (p.Asp531=) c.1940A= (p.Asp647=) c.2048A= (p.Asp683=) c.2012A= (p.Asp671=) c.1970A= (p.Asp657=) c.1679+6211A= (n.1679+6211A=) c.2066A= (p.Asp689=) c.2132A= (p.Asp711=) c.2129A= (p.Asp710=) c.2102A= (p.Asp701=) c.2021A= (p.Asp674=) c.2006A= (p.Asp669=) c.1613A= (p.Asp538=) c.2075A= (p.Asp692=) c.2009A= (p.Asp670=) c.1967A= (p.Asp656=) c.1040A= (p.Asp347=) | |
20 | g.63407240C>A | CA409639160 | KCNQ2 | c.2077G>T (p.Asp693Tyr) c.2023G>T (p.Asp675Tyr) c.1420G>T (p.Asp474Tyr) c.1930G>T (p.Asp644Tyr) c.1591G>T (p.Asp531Tyr) c.1939G>T (p.Asp647Tyr) c.2047G>T (p.Asp683Tyr) c.2011G>T (p.Asp671Tyr) c.1969G>T (p.Asp657Tyr) c.1679+6210G>T (n.1679+6210G>T) c.2065G>T (p.Asp689Tyr) c.2131G>T (p.Asp711Tyr) c.2128G>T (p.Asp710Tyr) c.2101G>T (p.Asp701Tyr) c.2020G>T (p.Asp674Tyr) c.2005G>T (p.Asp669Tyr) c.1612G>T (p.Asp538Tyr) c.2074G>T (p.Asp692Tyr) c.2008G>T (p.Asp670Tyr) c.1966G>T (p.Asp656Tyr) c.1039G>T (p.Asp347Tyr) | |
20 | g.63407240C= | CA2374774505 | KCNQ2 | c.2077G= (p.Asp693=) c.2023G= (p.Asp675=) c.1420G= (p.Asp474=) c.1930G= (p.Asp644=) c.1591G= (p.Asp531=) c.1939G= (p.Asp647=) c.2047G= (p.Asp683=) c.2011G= (p.Asp671=) c.1969G= (p.Asp657=) c.1679+6210G= (n.1679+6210G=) c.2065G= (p.Asp689=) c.2131G= (p.Asp711=) c.2128G= (p.Asp710=) c.2101G= (p.Asp701=) c.2020G= (p.Asp674=) c.2005G= (p.Asp669=) c.1612G= (p.Asp538=) c.2074G= (p.Asp692=) c.2008G= (p.Asp670=) c.1966G= (p.Asp656=) c.1039G= (p.Asp347=) | |
20 | g.63407240C>G | CA409639161 | KCNQ2 | c.2077G>C (p.Asp693His) c.2023G>C (p.Asp675His) c.1420G>C (p.Asp474His) c.1930G>C (p.Asp644His) c.1591G>C (p.Asp531His) c.1939G>C (p.Asp647His) c.2047G>C (p.Asp683His) c.2011G>C (p.Asp671His) c.1969G>C (p.Asp657His) c.1679+6210G>C (n.1679+6210G>C) c.2065G>C (p.Asp689His) c.2131G>C (p.Asp711His) c.2128G>C (p.Asp710His) c.2101G>C (p.Asp701His) c.2020G>C (p.Asp674His) c.2005G>C (p.Asp669His) c.1612G>C (p.Asp538His) c.2074G>C (p.Asp692His) c.2008G>C (p.Asp670His) c.1966G>C (p.Asp656His) c.1039G>C (p.Asp347His) | |
20 | g.63407240C>T | CA9958169 | KCNQ2 | c.2077G>A (p.Asp693Asn) c.2023G>A (p.Asp675Asn) c.1420G>A (p.Asp474Asn) c.1930G>A (p.Asp644Asn) c.1591G>A (p.Asp531Asn) c.1939G>A (p.Asp647Asn) c.2047G>A (p.Asp683Asn) c.2011G>A (p.Asp671Asn) c.1969G>A (p.Asp657Asn) c.1679+6210G>A (n.1679+6210G>A) c.2065G>A (p.Asp689Asn) c.2131G>A (p.Asp711Asn) c.2128G>A (p.Asp710Asn) c.2101G>A (p.Asp701Asn) c.2020G>A (p.Asp674Asn) c.2005G>A (p.Asp669Asn) c.1612G>A (p.Asp538Asn) c.2074G>A (p.Asp692Asn) c.2008G>A (p.Asp670Asn) c.1966G>A (p.Asp656Asn) c.1039G>A (p.Asp347Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407241T>A | CA409639162 | KCNQ2 | c.2076A>T (p.Glu692Asp) c.2022A>T (p.Glu674Asp) c.1419A>T (p.Glu473Asp) c.1929A>T (p.Glu643Asp) c.1590A>T (p.Glu530Asp) c.1938A>T (p.Glu646Asp) c.2046A>T (p.Glu682Asp) c.2010A>T (p.Glu670Asp) c.1968A>T (p.Glu656Asp) c.1679+6209A>T (n.1679+6209A>T) c.2064A>T (p.Glu688Asp) c.2130A>T (p.Glu710Asp) c.2127A>T (p.Glu709Asp) c.2100A>T (p.Glu700Asp) c.2019A>T (p.Glu673Asp) c.2004A>T (p.Glu668Asp) c.1611A>T (p.Glu537Asp) c.2073A>T (p.Glu691Asp) c.2007A>T (p.Glu669Asp) c.1965A>T (p.Glu655Asp) c.1038A>T (p.Glu346Asp) | |
20 | g.63407241T>C | CA511339438 | KCNQ2 | c.2076A>G (p.Glu692=) c.2022A>G (p.Glu674=) c.1419A>G (p.Glu473=) c.1929A>G (p.Glu643=) c.1590A>G (p.Glu530=) c.1938A>G (p.Glu646=) c.2046A>G (p.Glu682=) c.2010A>G (p.Glu670=) c.1968A>G (p.Glu656=) c.1679+6209A>G (n.1679+6209A>G) c.2064A>G (p.Glu688=) c.2130A>G (p.Glu710=) c.2127A>G (p.Glu709=) c.2100A>G (p.Glu700=) c.2019A>G (p.Glu673=) c.2004A>G (p.Glu668=) c.1611A>G (p.Glu537=) c.2073A>G (p.Glu691=) c.2007A>G (p.Glu669=) c.1965A>G (p.Glu655=) c.1038A>G (p.Glu346=) | gnomAD v4 |
20 | g.63407241T>G | CA409639163 | KCNQ2 | c.2076A>C (p.Glu692Asp) c.2022A>C (p.Glu674Asp) c.1419A>C (p.Glu473Asp) c.1929A>C (p.Glu643Asp) c.1590A>C (p.Glu530Asp) c.1938A>C (p.Glu646Asp) c.2046A>C (p.Glu682Asp) c.2010A>C (p.Glu670Asp) c.1968A>C (p.Glu656Asp) c.1679+6209A>C (n.1679+6209A>C) c.2064A>C (p.Glu688Asp) c.2130A>C (p.Glu710Asp) c.2127A>C (p.Glu709Asp) c.2100A>C (p.Glu700Asp) c.2019A>C (p.Glu673Asp) c.2004A>C (p.Glu668Asp) c.1611A>C (p.Glu537Asp) c.2073A>C (p.Glu691Asp) c.2007A>C (p.Glu669Asp) c.1965A>C (p.Glu655Asp) c.1038A>C (p.Glu346Asp) | |
20 | g.63407242T>A | CA409639166 | KCNQ2 | c.2075A>T (p.Glu692Val) c.2021A>T (p.Glu674Val) c.1418A>T (p.Glu473Val) c.1928A>T (p.Glu643Val) c.1589A>T (p.Glu530Val) c.1937A>T (p.Glu646Val) c.2045A>T (p.Glu682Val) c.2009A>T (p.Glu670Val) c.1967A>T (p.Glu656Val) c.1679+6208A>T (n.1679+6208A>T) c.2063A>T (p.Glu688Val) c.2129A>T (p.Glu710Val) c.2126A>T (p.Glu709Val) c.2099A>T (p.Glu700Val) c.2018A>T (p.Glu673Val) c.2003A>T (p.Glu668Val) c.1610A>T (p.Glu537Val) c.2072A>T (p.Glu691Val) c.2006A>T (p.Glu669Val) c.1964A>T (p.Glu655Val) c.1037A>T (p.Glu346Val) | |
20 | g.63407242T>C | CA409639164 | KCNQ2 | c.2075A>G (p.Glu692Gly) c.2021A>G (p.Glu674Gly) c.1418A>G (p.Glu473Gly) c.1928A>G (p.Glu643Gly) c.1589A>G (p.Glu530Gly) c.1937A>G (p.Glu646Gly) c.2045A>G (p.Glu682Gly) c.2009A>G (p.Glu670Gly) c.1967A>G (p.Glu656Gly) c.1679+6208A>G (n.1679+6208A>G) c.2063A>G (p.Glu688Gly) c.2129A>G (p.Glu710Gly) c.2126A>G (p.Glu709Gly) c.2099A>G (p.Glu700Gly) c.2018A>G (p.Glu673Gly) c.2003A>G (p.Glu668Gly) c.1610A>G (p.Glu537Gly) c.2072A>G (p.Glu691Gly) c.2006A>G (p.Glu669Gly) c.1964A>G (p.Glu655Gly) c.1037A>G (p.Glu346Gly) | gnomAD v4 |
20 | g.63407242T>G | CA409639165 | KCNQ2 | c.2075A>C (p.Glu692Ala) c.2021A>C (p.Glu674Ala) c.1418A>C (p.Glu473Ala) c.1928A>C (p.Glu643Ala) c.1589A>C (p.Glu530Ala) c.1937A>C (p.Glu646Ala) c.2045A>C (p.Glu682Ala) c.2009A>C (p.Glu670Ala) c.1967A>C (p.Glu656Ala) c.1679+6208A>C (n.1679+6208A>C) c.2063A>C (p.Glu688Ala) c.2129A>C (p.Glu710Ala) c.2126A>C (p.Glu709Ala) c.2099A>C (p.Glu700Ala) c.2018A>C (p.Glu673Ala) c.2003A>C (p.Glu668Ala) c.1610A>C (p.Glu537Ala) c.2072A>C (p.Glu691Ala) c.2006A>C (p.Glu669Ala) c.1964A>C (p.Glu655Ala) c.1037A>C (p.Glu346Ala) | |
20 | g.63407243C>A | CA409639167 | KCNQ2 | c.2074G>T (p.Glu692Ter) c.2020G>T (p.Glu674Ter) c.1417G>T (p.Glu473Ter) c.1927G>T (p.Glu643Ter) c.1588G>T (p.Glu530Ter) c.1936G>T (p.Glu646Ter) c.2044G>T (p.Glu682Ter) c.2008G>T (p.Glu670Ter) c.1966G>T (p.Glu656Ter) c.1679+6207G>T (n.1679+6207G>T) c.2062G>T (p.Glu688Ter) c.2128G>T (p.Glu710Ter) c.2125G>T (p.Glu709Ter) c.2098G>T (p.Glu700Ter) c.2017G>T (p.Glu673Ter) c.2002G>T (p.Glu668Ter) c.1609G>T (p.Glu537Ter) c.2071G>T (p.Glu691Ter) c.2005G>T (p.Glu669Ter) c.1963G>T (p.Glu655Ter) c.1036G>T (p.Glu346Ter) | gnomAD v4 |
20 | g.63407243C>G | CA409639168 | KCNQ2 | c.2074G>C (p.Glu692Gln) c.2020G>C (p.Glu674Gln) c.1417G>C (p.Glu473Gln) c.1927G>C (p.Glu643Gln) c.1588G>C (p.Glu530Gln) c.1936G>C (p.Glu646Gln) c.2044G>C (p.Glu682Gln) c.2008G>C (p.Glu670Gln) c.1966G>C (p.Glu656Gln) c.1679+6207G>C (n.1679+6207G>C) c.2062G>C (p.Glu688Gln) c.2128G>C (p.Glu710Gln) c.2125G>C (p.Glu709Gln) c.2098G>C (p.Glu700Gln) c.2017G>C (p.Glu673Gln) c.2002G>C (p.Glu668Gln) c.1609G>C (p.Glu537Gln) c.2071G>C (p.Glu691Gln) c.2005G>C (p.Glu669Gln) c.1963G>C (p.Glu655Gln) c.1036G>C (p.Glu346Gln) | ClinVar |
20 | g.63407243C>T | CA409639169 | KCNQ2 | c.2074G>A (p.Glu692Lys) c.2020G>A (p.Glu674Lys) c.1417G>A (p.Glu473Lys) c.1927G>A (p.Glu643Lys) c.1588G>A (p.Glu530Lys) c.1936G>A (p.Glu646Lys) c.2044G>A (p.Glu682Lys) c.2008G>A (p.Glu670Lys) c.1966G>A (p.Glu656Lys) c.1679+6207G>A (n.1679+6207G>A) c.2062G>A (p.Glu688Lys) c.2128G>A (p.Glu710Lys) c.2125G>A (p.Glu709Lys) c.2098G>A (p.Glu700Lys) c.2017G>A (p.Glu673Lys) c.2002G>A (p.Glu668Lys) c.1609G>A (p.Glu537Lys) c.2071G>A (p.Glu691Lys) c.2005G>A (p.Glu669Lys) c.1963G>A (p.Glu655Lys) c.1036G>A (p.Glu346Lys) | gnomAD v4 |
20 | g.63407244C>A | CA511339439 | KCNQ2 | c.2073G>T (p.Pro691=) c.2019G>T (p.Pro673=) c.1416G>T (p.Pro472=) c.1926G>T (p.Pro642=) c.1587G>T (p.Pro529=) c.1935G>T (p.Pro645=) c.2043G>T (p.Pro681=) c.2007G>T (p.Pro669=) c.1965G>T (p.Pro655=) c.1679+6206G>T (n.1679+6206G>T) c.2061G>T (p.Pro687=) c.2127G>T (p.Pro709=) c.2124G>T (p.Pro708=) c.2097G>T (p.Pro699=) c.2016G>T (p.Pro672=) c.2001G>T (p.Pro667=) c.1608G>T (p.Pro536=) c.2070G>T (p.Pro690=) c.2004G>T (p.Pro668=) c.1962G>T (p.Pro654=) c.1035G>T (p.Pro345=) | gnomAD v4 |
20 | g.63407244C= | CA2374774506 | KCNQ2 | c.2073G= (p.Pro691=) c.2019G= (p.Pro673=) c.1416G= (p.Pro472=) c.1926G= (p.Pro642=) c.1587G= (p.Pro529=) c.1935G= (p.Pro645=) c.2043G= (p.Pro681=) c.2007G= (p.Pro669=) c.1965G= (p.Pro655=) c.1679+6206G= (n.1679+6206G=) c.2061G= (p.Pro687=) c.2127G= (p.Pro709=) c.2124G= (p.Pro708=) c.2097G= (p.Pro699=) c.2016G= (p.Pro672=) c.2001G= (p.Pro667=) c.1608G= (p.Pro536=) c.2070G= (p.Pro690=) c.2004G= (p.Pro668=) c.1962G= (p.Pro654=) c.1035G= (p.Pro345=) | |
20 | g.63407244C>G | CA511339440 | KCNQ2 | c.2073G>C (p.Pro691=) c.2019G>C (p.Pro673=) c.1416G>C (p.Pro472=) c.1926G>C (p.Pro642=) c.1587G>C (p.Pro529=) c.1935G>C (p.Pro645=) c.2043G>C (p.Pro681=) c.2007G>C (p.Pro669=) c.1965G>C (p.Pro655=) c.1679+6206G>C (n.1679+6206G>C) c.2061G>C (p.Pro687=) c.2127G>C (p.Pro709=) c.2124G>C (p.Pro708=) c.2097G>C (p.Pro699=) c.2016G>C (p.Pro672=) c.2001G>C (p.Pro667=) c.1608G>C (p.Pro536=) c.2070G>C (p.Pro690=) c.2004G>C (p.Pro668=) c.1962G>C (p.Pro654=) c.1035G>C (p.Pro345=) | |
20 | g.63407244C>T | CA9958170 | KCNQ2 | c.2073G>A (p.Pro691=) c.2019G>A (p.Pro673=) c.1416G>A (p.Pro472=) c.1926G>A (p.Pro642=) c.1587G>A (p.Pro529=) c.1935G>A (p.Pro645=) c.2043G>A (p.Pro681=) c.2007G>A (p.Pro669=) c.1965G>A (p.Pro655=) c.1679+6206G>A (n.1679+6206G>A) c.2061G>A (p.Pro687=) c.2127G>A (p.Pro709=) c.2124G>A (p.Pro708=) c.2097G>A (p.Pro699=) c.2016G>A (p.Pro672=) c.2001G>A (p.Pro667=) c.1608G>A (p.Pro536=) c.2070G>A (p.Pro690=) c.2004G>A (p.Pro668=) c.1962G>A (p.Pro654=) c.1035G>A (p.Pro345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407245G>A | CA409639170 | KCNQ2 | c.2072C>T (p.Pro691Leu) c.2018C>T (p.Pro673Leu) c.1415C>T (p.Pro472Leu) c.1925C>T (p.Pro642Leu) c.1586C>T (p.Pro529Leu) c.1934C>T (p.Pro645Leu) c.2042C>T (p.Pro681Leu) c.2006C>T (p.Pro669Leu) c.1964C>T (p.Pro655Leu) c.1679+6205C>T (n.1679+6205C>T) c.2060C>T (p.Pro687Leu) c.2126C>T (p.Pro709Leu) c.2123C>T (p.Pro708Leu) c.2096C>T (p.Pro699Leu) c.2015C>T (p.Pro672Leu) c.2000C>T (p.Pro667Leu) c.1607C>T (p.Pro536Leu) c.2069C>T (p.Pro690Leu) c.2003C>T (p.Pro668Leu) c.1961C>T (p.Pro654Leu) c.1034C>T (p.Pro345Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407245G>C | CA409639171 | KCNQ2 | c.2072C>G (p.Pro691Arg) c.2018C>G (p.Pro673Arg) c.1415C>G (p.Pro472Arg) c.1925C>G (p.Pro642Arg) c.1586C>G (p.Pro529Arg) c.1934C>G (p.Pro645Arg) c.2042C>G (p.Pro681Arg) c.2006C>G (p.Pro669Arg) c.1964C>G (p.Pro655Arg) c.1679+6205C>G (n.1679+6205C>G) c.2060C>G (p.Pro687Arg) c.2126C>G (p.Pro709Arg) c.2123C>G (p.Pro708Arg) c.2096C>G (p.Pro699Arg) c.2015C>G (p.Pro672Arg) c.2000C>G (p.Pro667Arg) c.1607C>G (p.Pro536Arg) c.2069C>G (p.Pro690Arg) c.2003C>G (p.Pro668Arg) c.1961C>G (p.Pro654Arg) c.1034C>G (p.Pro345Arg) | |
20 | g.63407245G= | CA2374774507 | KCNQ2 | c.2072C= (p.Pro691=) c.2018C= (p.Pro673=) c.1415C= (p.Pro472=) c.1925C= (p.Pro642=) c.1586C= (p.Pro529=) c.1934C= (p.Pro645=) c.2042C= (p.Pro681=) c.2006C= (p.Pro669=) c.1964C= (p.Pro655=) c.1679+6205C= (n.1679+6205C=) c.2060C= (p.Pro687=) c.2126C= (p.Pro709=) c.2123C= (p.Pro708=) c.2096C= (p.Pro699=) c.2015C= (p.Pro672=) c.2000C= (p.Pro667=) c.1607C= (p.Pro536=) c.2069C= (p.Pro690=) c.2003C= (p.Pro668=) c.1961C= (p.Pro654=) c.1034C= (p.Pro345=) | |
20 | g.63407245G>T | CA409639172 | KCNQ2 | c.2072C>A (p.Pro691Gln) c.2018C>A (p.Pro673Gln) c.1415C>A (p.Pro472Gln) c.1925C>A (p.Pro642Gln) c.1586C>A (p.Pro529Gln) c.1934C>A (p.Pro645Gln) c.2042C>A (p.Pro681Gln) c.2006C>A (p.Pro669Gln) c.1964C>A (p.Pro655Gln) c.1679+6205C>A (n.1679+6205C>A) c.2060C>A (p.Pro687Gln) c.2126C>A (p.Pro709Gln) c.2123C>A (p.Pro708Gln) c.2096C>A (p.Pro699Gln) c.2015C>A (p.Pro672Gln) c.2000C>A (p.Pro667Gln) c.1607C>A (p.Pro536Gln) c.2069C>A (p.Pro690Gln) c.2003C>A (p.Pro668Gln) c.1961C>A (p.Pro654Gln) c.1034C>A (p.Pro345Gln) | gnomAD v4 |
20 | g.63407246G>A | CA409639173 | KCNQ2 | c.2071C>T (p.Pro691Ser) c.2017C>T (p.Pro673Ser) c.1414C>T (p.Pro472Ser) c.1924C>T (p.Pro642Ser) c.1585C>T (p.Pro529Ser) c.1933C>T (p.Pro645Ser) c.2041C>T (p.Pro681Ser) c.2005C>T (p.Pro669Ser) c.1963C>T (p.Pro655Ser) c.1679+6204C>T (n.1679+6204C>T) c.2059C>T (p.Pro687Ser) c.2125C>T (p.Pro709Ser) c.2122C>T (p.Pro708Ser) c.2095C>T (p.Pro699Ser) c.2014C>T (p.Pro672Ser) c.1999C>T (p.Pro667Ser) c.1606C>T (p.Pro536Ser) c.2068C>T (p.Pro690Ser) c.2002C>T (p.Pro668Ser) c.1960C>T (p.Pro654Ser) c.1033C>T (p.Pro345Ser) | |
20 | g.63407246G>C | CA409639174 | KCNQ2 | c.2071C>G (p.Pro691Ala) c.2017C>G (p.Pro673Ala) c.1414C>G (p.Pro472Ala) c.1924C>G (p.Pro642Ala) c.1585C>G (p.Pro529Ala) c.1933C>G (p.Pro645Ala) c.2041C>G (p.Pro681Ala) c.2005C>G (p.Pro669Ala) c.1963C>G (p.Pro655Ala) c.1679+6204C>G (n.1679+6204C>G) c.2059C>G (p.Pro687Ala) c.2125C>G (p.Pro709Ala) c.2122C>G (p.Pro708Ala) c.2095C>G (p.Pro699Ala) c.2014C>G (p.Pro672Ala) c.1999C>G (p.Pro667Ala) c.1606C>G (p.Pro536Ala) c.2068C>G (p.Pro690Ala) c.2002C>G (p.Pro668Ala) c.1960C>G (p.Pro654Ala) c.1033C>G (p.Pro345Ala) | |
20 | g.63407246G>T | CA409639175 | KCNQ2 | c.2071C>A (p.Pro691Thr) c.2017C>A (p.Pro673Thr) c.1414C>A (p.Pro472Thr) c.1924C>A (p.Pro642Thr) c.1585C>A (p.Pro529Thr) c.1933C>A (p.Pro645Thr) c.2041C>A (p.Pro681Thr) c.2005C>A (p.Pro669Thr) c.1963C>A (p.Pro655Thr) c.1679+6204C>A (n.1679+6204C>A) c.2059C>A (p.Pro687Thr) c.2125C>A (p.Pro709Thr) c.2122C>A (p.Pro708Thr) c.2095C>A (p.Pro699Thr) c.2014C>A (p.Pro672Thr) c.1999C>A (p.Pro667Thr) c.1606C>A (p.Pro536Thr) c.2068C>A (p.Pro690Thr) c.2002C>A (p.Pro668Thr) c.1960C>A (p.Pro654Thr) c.1033C>A (p.Pro345Thr) | gnomAD v4 |
20 | g.63407247G>A | CA511339441 | KCNQ2 | c.2070C>T (p.Ser690=) c.2016C>T (p.Ser672=) c.1413C>T (p.Ser471=) c.1923C>T (p.Ser641=) c.1584C>T (p.Ser528=) c.1932C>T (p.Ser644=) c.2040C>T (p.Ser680=) c.2004C>T (p.Ser668=) c.1962C>T (p.Ser654=) c.1679+6203C>T (n.1679+6203C>T) c.2058C>T (p.Ser686=) c.2124C>T (p.Ser708=) c.2121C>T (p.Ser707=) c.2094C>T (p.Ser698=) c.2013C>T (p.Ser671=) c.1998C>T (p.Ser666=) c.1605C>T (p.Ser535=) c.2067C>T (p.Ser689=) c.2001C>T (p.Ser667=) c.1959C>T (p.Ser653=) c.1032C>T (p.Ser344=) | gnomAD v4 |
20 | g.63407247G>C | CA409639176 | KCNQ2 | c.2070C>G (p.Ser690Arg) c.2016C>G (p.Ser672Arg) c.1413C>G (p.Ser471Arg) c.1923C>G (p.Ser641Arg) c.1584C>G (p.Ser528Arg) c.1932C>G (p.Ser644Arg) c.2040C>G (p.Ser680Arg) c.2004C>G (p.Ser668Arg) c.1962C>G (p.Ser654Arg) c.1679+6203C>G (n.1679+6203C>G) c.2058C>G (p.Ser686Arg) c.2124C>G (p.Ser708Arg) c.2121C>G (p.Ser707Arg) c.2094C>G (p.Ser698Arg) c.2013C>G (p.Ser671Arg) c.1998C>G (p.Ser666Arg) c.1605C>G (p.Ser535Arg) c.2067C>G (p.Ser689Arg) c.2001C>G (p.Ser667Arg) c.1959C>G (p.Ser653Arg) c.1032C>G (p.Ser344Arg) | |
20 | g.63407247G>T | CA409639177 | KCNQ2 | c.2070C>A (p.Ser690Arg) c.2016C>A (p.Ser672Arg) c.1413C>A (p.Ser471Arg) c.1923C>A (p.Ser641Arg) c.1584C>A (p.Ser528Arg) c.1932C>A (p.Ser644Arg) c.2040C>A (p.Ser680Arg) c.2004C>A (p.Ser668Arg) c.1962C>A (p.Ser654Arg) c.1679+6203C>A (n.1679+6203C>A) c.2058C>A (p.Ser686Arg) c.2124C>A (p.Ser708Arg) c.2121C>A (p.Ser707Arg) c.2094C>A (p.Ser698Arg) c.2013C>A (p.Ser671Arg) c.1998C>A (p.Ser666Arg) c.1605C>A (p.Ser535Arg) c.2067C>A (p.Ser689Arg) c.2001C>A (p.Ser667Arg) c.1959C>A (p.Ser653Arg) c.1032C>A (p.Ser344Arg) | gnomAD v4 |
20 | g.63407247_63407248delinsGC | CA2374774508 | KCNQ2 | c.2069_2070delinsGC (p.Ser690=) c.2015_2016delinsGC (p.Ser672=) c.1412_1413delinsGC (p.Ser471=) c.1922_1923delinsGC (p.Ser641=) c.1583_1584delinsGC (p.Ser528=) c.1931_1932delinsGC (p.Ser644=) c.2039_2040delinsGC (p.Ser680=) c.2003_2004delinsGC (p.Ser668=) c.1961_1962delinsGC (p.Ser654=) c.1679+6202_1679+6203delinsGC (n.1679+6202_1679+6203delinsGC) c.2057_2058delinsGC (p.Ser686=) c.2123_2124delinsGC (p.Ser708=) c.2120_2121delinsGC (p.Ser707=) c.2093_2094delinsGC (p.Ser698=) c.2012_2013delinsGC (p.Ser671=) c.1997_1998delinsGC (p.Ser666=) c.1604_1605delinsGC (p.Ser535=) c.2066_2067delinsGC (p.Ser689=) c.2000_2001delinsGC (p.Ser667=) c.1958_1959delinsGC (p.Ser653=) c.1031_1032delinsGC (p.Ser344=) | |
20 | g.63407248del | CA342488 | KCNQ2 | c.2069del (p.Ser690ThrfsTer?) c.2015del (p.Ser672ThrfsTer?) c.1412del (p.Ser471ThrfsTer?) c.1922del (p.Ser641ThrfsTer?) c.1583del (p.Ser528ThrfsTer?) c.1931del (p.Ser644ThrfsTer?) c.2039del (p.Ser680ThrfsTer?) c.2003del (p.Ser668ThrfsTer?) c.1961del (p.Ser654ThrfsTer?) c.1679+6202del (n.1679+6202del) c.2057del (p.Ser686ThrfsTer?) c.2123del (p.Ser708ThrfsTer?) c.2120del (p.Ser707ThrfsTer?) c.2093del (p.Ser698ThrfsTer?) c.2012del (p.Ser671ThrfsTer?) c.1997del (p.Ser666ThrfsTer?) c.1604del (p.Ser535ThrfsTer?) c.2066del (p.Ser689ThrfsTer?) c.2000del (p.Ser667ThrfsTer?) c.1958del (p.Ser653ThrfsTer?) c.1031del (p.Ser344ThrfsTer?) | ClinVar dbSNP |
20 | g.63407248C>A | CA409639180 | KCNQ2 | c.2069G>T (p.Ser690Ile) c.2015G>T (p.Ser672Ile) c.1412G>T (p.Ser471Ile) c.1922G>T (p.Ser641Ile) c.1583G>T (p.Ser528Ile) c.1931G>T (p.Ser644Ile) c.2039G>T (p.Ser680Ile) c.2003G>T (p.Ser668Ile) c.1961G>T (p.Ser654Ile) c.1679+6202G>T (n.1679+6202G>T) c.2057G>T (p.Ser686Ile) c.2123G>T (p.Ser708Ile) c.2120G>T (p.Ser707Ile) c.2093G>T (p.Ser698Ile) c.2012G>T (p.Ser671Ile) c.1997G>T (p.Ser666Ile) c.1604G>T (p.Ser535Ile) c.2066G>T (p.Ser689Ile) c.2000G>T (p.Ser667Ile) c.1958G>T (p.Ser653Ile) c.1031G>T (p.Ser344Ile) | gnomAD v4 |
20 | g.63407248C= | CA2374774509 | KCNQ2 | c.2069G= (p.Ser690=) c.2015G= (p.Ser672=) c.1412G= (p.Ser471=) c.1922G= (p.Ser641=) c.1583G= (p.Ser528=) c.1931G= (p.Ser644=) c.2039G= (p.Ser680=) c.2003G= (p.Ser668=) c.1961G= (p.Ser654=) c.1679+6202G= (n.1679+6202G=) c.2057G= (p.Ser686=) c.2123G= (p.Ser708=) c.2120G= (p.Ser707=) c.2093G= (p.Ser698=) c.2012G= (p.Ser671=) c.1997G= (p.Ser666=) c.1604G= (p.Ser535=) c.2066G= (p.Ser689=) c.2000G= (p.Ser667=) c.1958G= (p.Ser653=) c.1031G= (p.Ser344=) | |
20 | g.63407248C>G | CA409639179 | KCNQ2 | c.2069G>C (p.Ser690Thr) c.2015G>C (p.Ser672Thr) c.1412G>C (p.Ser471Thr) c.1922G>C (p.Ser641Thr) c.1583G>C (p.Ser528Thr) c.1931G>C (p.Ser644Thr) c.2039G>C (p.Ser680Thr) c.2003G>C (p.Ser668Thr) c.1961G>C (p.Ser654Thr) c.1679+6202G>C (n.1679+6202G>C) c.2057G>C (p.Ser686Thr) c.2123G>C (p.Ser708Thr) c.2120G>C (p.Ser707Thr) c.2093G>C (p.Ser698Thr) c.2012G>C (p.Ser671Thr) c.1997G>C (p.Ser666Thr) c.1604G>C (p.Ser535Thr) c.2066G>C (p.Ser689Thr) c.2000G>C (p.Ser667Thr) c.1958G>C (p.Ser653Thr) c.1031G>C (p.Ser344Thr) | |
20 | g.63407248C>T | CA409639178 | KCNQ2 | c.2069G>A (p.Ser690Asn) c.2015G>A (p.Ser672Asn) c.1412G>A (p.Ser471Asn) c.1922G>A (p.Ser641Asn) c.1583G>A (p.Ser528Asn) c.1931G>A (p.Ser644Asn) c.2039G>A (p.Ser680Asn) c.2003G>A (p.Ser668Asn) c.1961G>A (p.Ser654Asn) c.1679+6202G>A (n.1679+6202G>A) c.2057G>A (p.Ser686Asn) c.2123G>A (p.Ser708Asn) c.2120G>A (p.Ser707Asn) c.2093G>A (p.Ser698Asn) c.2012G>A (p.Ser671Asn) c.1997G>A (p.Ser666Asn) c.1604G>A (p.Ser535Asn) c.2066G>A (p.Ser689Asn) c.2000G>A (p.Ser667Asn) c.1958G>A (p.Ser653Asn) c.1031G>A (p.Ser344Asn) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407249T>A | CA409639183 | KCNQ2 | c.2068A>T (p.Ser690Cys) c.2014A>T (p.Ser672Cys) c.1411A>T (p.Ser471Cys) c.1921A>T (p.Ser641Cys) c.1582A>T (p.Ser528Cys) c.1930A>T (p.Ser644Cys) c.2038A>T (p.Ser680Cys) c.2002A>T (p.Ser668Cys) c.1960A>T (p.Ser654Cys) c.1679+6201A>T (n.1679+6201A>T) c.2056A>T (p.Ser686Cys) c.2122A>T (p.Ser708Cys) c.2119A>T (p.Ser707Cys) c.2092A>T (p.Ser698Cys) c.2011A>T (p.Ser671Cys) c.1996A>T (p.Ser666Cys) c.1603A>T (p.Ser535Cys) c.2065A>T (p.Ser689Cys) c.1999A>T (p.Ser667Cys) c.1957A>T (p.Ser653Cys) c.1030A>T (p.Ser344Cys) | |
20 | g.63407249T>C | CA409639181 | KCNQ2 | c.2068A>G (p.Ser690Gly) c.2014A>G (p.Ser672Gly) c.1411A>G (p.Ser471Gly) c.1921A>G (p.Ser641Gly) c.1582A>G (p.Ser528Gly) c.1930A>G (p.Ser644Gly) c.2038A>G (p.Ser680Gly) c.2002A>G (p.Ser668Gly) c.1960A>G (p.Ser654Gly) c.1679+6201A>G (n.1679+6201A>G) c.2056A>G (p.Ser686Gly) c.2122A>G (p.Ser708Gly) c.2119A>G (p.Ser707Gly) c.2092A>G (p.Ser698Gly) c.2011A>G (p.Ser671Gly) c.1996A>G (p.Ser666Gly) c.1603A>G (p.Ser535Gly) c.2065A>G (p.Ser689Gly) c.1999A>G (p.Ser667Gly) c.1957A>G (p.Ser653Gly) c.1030A>G (p.Ser344Gly) | gnomAD v4 |
20 | g.63407249T>G | CA409639182 | KCNQ2 | c.2068A>C (p.Ser690Arg) c.2014A>C (p.Ser672Arg) c.1411A>C (p.Ser471Arg) c.1921A>C (p.Ser641Arg) c.1582A>C (p.Ser528Arg) c.1930A>C (p.Ser644Arg) c.2038A>C (p.Ser680Arg) c.2002A>C (p.Ser668Arg) c.1960A>C (p.Ser654Arg) c.1679+6201A>C (n.1679+6201A>C) c.2056A>C (p.Ser686Arg) c.2122A>C (p.Ser708Arg) c.2119A>C (p.Ser707Arg) c.2092A>C (p.Ser698Arg) c.2011A>C (p.Ser671Arg) c.1996A>C (p.Ser666Arg) c.1603A>C (p.Ser535Arg) c.2065A>C (p.Ser689Arg) c.1999A>C (p.Ser667Arg) c.1957A>C (p.Ser653Arg) c.1030A>C (p.Ser344Arg) | |
20 | g.63407250G>A | CA511339442 | KCNQ2 | c.2067C>T (p.His689=) c.2013C>T (p.His671=) c.1410C>T (p.His470=) c.1920C>T (p.His640=) c.1581C>T (p.His527=) c.1929C>T (p.His643=) c.2037C>T (p.His679=) c.2001C>T (p.His667=) c.1959C>T (p.His653=) c.1679+6200C>T (n.1679+6200C>T) c.2055C>T (p.His685=) c.2121C>T (p.His707=) c.2118C>T (p.His706=) c.2091C>T (p.His697=) c.2010C>T (p.His670=) c.1995C>T (p.His665=) c.1602C>T (p.His534=) c.2064C>T (p.His688=) c.1998C>T (p.His666=) c.1956C>T (p.His652=) c.1029C>T (p.His343=) | gnomAD v4 |
20 | g.63407250G>C | CA409639184 | KCNQ2 | c.2067C>G (p.His689Gln) c.2013C>G (p.His671Gln) c.1410C>G (p.His470Gln) c.1920C>G (p.His640Gln) c.1581C>G (p.His527Gln) c.1929C>G (p.His643Gln) c.2037C>G (p.His679Gln) c.2001C>G (p.His667Gln) c.1959C>G (p.His653Gln) c.1679+6200C>G (n.1679+6200C>G) c.2055C>G (p.His685Gln) c.2121C>G (p.His707Gln) c.2118C>G (p.His706Gln) c.2091C>G (p.His697Gln) c.2010C>G (p.His670Gln) c.1995C>G (p.His665Gln) c.1602C>G (p.His534Gln) c.2064C>G (p.His688Gln) c.1998C>G (p.His666Gln) c.1956C>G (p.His652Gln) c.1029C>G (p.His343Gln) | |
20 | g.63407250G>T | CA409639185 | KCNQ2 | c.2067C>A (p.His689Gln) c.2013C>A (p.His671Gln) c.1410C>A (p.His470Gln) c.1920C>A (p.His640Gln) c.1581C>A (p.His527Gln) c.1929C>A (p.His643Gln) c.2037C>A (p.His679Gln) c.2001C>A (p.His667Gln) c.1959C>A (p.His653Gln) c.1679+6200C>A (n.1679+6200C>A) c.2055C>A (p.His685Gln) c.2121C>A (p.His707Gln) c.2118C>A (p.His706Gln) c.2091C>A (p.His697Gln) c.2010C>A (p.His670Gln) c.1995C>A (p.His665Gln) c.1602C>A (p.His534Gln) c.2064C>A (p.His688Gln) c.1998C>A (p.His666Gln) c.1956C>A (p.His652Gln) c.1029C>A (p.His343Gln) | gnomAD v4 |
20 | g.63407250dup | CA2842871708 | KCNQ2 | c.2067dup (p.Ser690GlnfsTer?) c.2013dup (p.Ser672GlnfsTer?) c.1410dup (p.Ser471GlnfsTer?) c.1920dup (p.Ser641GlnfsTer?) c.1581dup (p.Ser528GlnfsTer?) c.1929dup (p.Ser644GlnfsTer?) c.2037dup (p.Ser680GlnfsTer?) c.2001dup (p.Ser668GlnfsTer?) c.1959dup (p.Ser654GlnfsTer?) c.1679+6200dup (n.1679+6200dup) c.2055dup (p.Ser686GlnfsTer?) c.2121dup (p.Ser708GlnfsTer?) c.2118dup (p.Ser707GlnfsTer?) c.2091dup (p.Ser698GlnfsTer?) c.2010dup (p.Ser671GlnfsTer?) c.1995dup (p.Ser666GlnfsTer?) c.1602dup (p.Ser535GlnfsTer?) c.2064dup (p.Ser689GlnfsTer?) c.1998dup (p.Ser667GlnfsTer?) c.1956dup (p.Ser653GlnfsTer?) c.1029dup (p.Ser344GlnfsTer?) | |
20 | g.63407251T>A | CA409639186 | KCNQ2 | c.2066A>T (p.His689Leu) c.2012A>T (p.His671Leu) c.1409A>T (p.His470Leu) c.1919A>T (p.His640Leu) c.1580A>T (p.His527Leu) c.1928A>T (p.His643Leu) c.2036A>T (p.His679Leu) c.2000A>T (p.His667Leu) c.1958A>T (p.His653Leu) c.1679+6199A>T (n.1679+6199A>T) c.2054A>T (p.His685Leu) c.2120A>T (p.His707Leu) c.2117A>T (p.His706Leu) c.2090A>T (p.His697Leu) c.2009A>T (p.His670Leu) c.1994A>T (p.His665Leu) c.1601A>T (p.His534Leu) c.2063A>T (p.His688Leu) c.1997A>T (p.His666Leu) c.1955A>T (p.His652Leu) c.1028A>T (p.His343Leu) | |
20 | g.63407251T>C | CA409639187 | KCNQ2 | c.2066A>G (p.His689Arg) c.2012A>G (p.His671Arg) c.1409A>G (p.His470Arg) c.1919A>G (p.His640Arg) c.1580A>G (p.His527Arg) c.1928A>G (p.His643Arg) c.2036A>G (p.His679Arg) c.2000A>G (p.His667Arg) c.1958A>G (p.His653Arg) c.1679+6199A>G (n.1679+6199A>G) c.2054A>G (p.His685Arg) c.2120A>G (p.His707Arg) c.2117A>G (p.His706Arg) c.2090A>G (p.His697Arg) c.2009A>G (p.His670Arg) c.1994A>G (p.His665Arg) c.1601A>G (p.His534Arg) c.2063A>G (p.His688Arg) c.1997A>G (p.His666Arg) c.1955A>G (p.His652Arg) c.1028A>G (p.His343Arg) | |
20 | g.63407251T>G | CA409639188 | KCNQ2 | c.2066A>C (p.His689Pro) c.2012A>C (p.His671Pro) c.1409A>C (p.His470Pro) c.1919A>C (p.His640Pro) c.1580A>C (p.His527Pro) c.1928A>C (p.His643Pro) c.2036A>C (p.His679Pro) c.2000A>C (p.His667Pro) c.1958A>C (p.His653Pro) c.1679+6199A>C (n.1679+6199A>C) c.2054A>C (p.His685Pro) c.2120A>C (p.His707Pro) c.2117A>C (p.His706Pro) c.2090A>C (p.His697Pro) c.2009A>C (p.His670Pro) c.1994A>C (p.His665Pro) c.1601A>C (p.His534Pro) c.2063A>C (p.His688Pro) c.1997A>C (p.His666Pro) c.1955A>C (p.His652Pro) c.1028A>C (p.His343Pro) | gnomAD v4 |
20 | g.63407252G>A | CA409639189 | KCNQ2 | c.2065C>T (p.His689Tyr) c.2011C>T (p.His671Tyr) c.1408C>T (p.His470Tyr) c.1918C>T (p.His640Tyr) c.1579C>T (p.His527Tyr) c.1927C>T (p.His643Tyr) c.2035C>T (p.His679Tyr) c.1999C>T (p.His667Tyr) c.1957C>T (p.His653Tyr) c.1679+6198C>T (n.1679+6198C>T) c.2053C>T (p.His685Tyr) c.2119C>T (p.His707Tyr) c.2116C>T (p.His706Tyr) c.2089C>T (p.His697Tyr) c.2008C>T (p.His670Tyr) c.1993C>T (p.His665Tyr) c.1600C>T (p.His534Tyr) c.2062C>T (p.His688Tyr) c.1996C>T (p.His666Tyr) c.1954C>T (p.His652Tyr) c.1027C>T (p.His343Tyr) | |
20 | g.63407252G>C | CA409639190 | KCNQ2 | c.2065C>G (p.His689Asp) c.2011C>G (p.His671Asp) c.1408C>G (p.His470Asp) c.1918C>G (p.His640Asp) c.1579C>G (p.His527Asp) c.1927C>G (p.His643Asp) c.2035C>G (p.His679Asp) c.1999C>G (p.His667Asp) c.1957C>G (p.His653Asp) c.1679+6198C>G (n.1679+6198C>G) c.2053C>G (p.His685Asp) c.2119C>G (p.His707Asp) c.2116C>G (p.His706Asp) c.2089C>G (p.His697Asp) c.2008C>G (p.His670Asp) c.1993C>G (p.His665Asp) c.1600C>G (p.His534Asp) c.2062C>G (p.His688Asp) c.1996C>G (p.His666Asp) c.1954C>G (p.His652Asp) c.1027C>G (p.His343Asp) | |
20 | g.63407252G>T | CA409639191 | KCNQ2 | c.2065C>A (p.His689Asn) c.2011C>A (p.His671Asn) c.1408C>A (p.His470Asn) c.1918C>A (p.His640Asn) c.1579C>A (p.His527Asn) c.1927C>A (p.His643Asn) c.2035C>A (p.His679Asn) c.1999C>A (p.His667Asn) c.1957C>A (p.His653Asn) c.1679+6198C>A (n.1679+6198C>A) c.2053C>A (p.His685Asn) c.2119C>A (p.His707Asn) c.2116C>A (p.His706Asn) c.2089C>A (p.His697Asn) c.2008C>A (p.His670Asn) c.1993C>A (p.His665Asn) c.1600C>A (p.His534Asn) c.2062C>A (p.His688Asn) c.1996C>A (p.His666Asn) c.1954C>A (p.His652Asn) c.1027C>A (p.His343Asn) | gnomAD v4 |
20 | g.63407253G>A | CA9958171 | KCNQ2 | c.2064C>T (p.Tyr688=) c.2010C>T (p.Tyr670=) c.1407C>T (p.Tyr469=) c.1917C>T (p.Tyr639=) c.1578C>T (p.Tyr526=) c.1926C>T (p.Tyr642=) c.2034C>T (p.Tyr678=) c.1998C>T (p.Tyr666=) c.1956C>T (p.Tyr652=) c.1679+6197C>T (n.1679+6197C>T) c.2052C>T (p.Tyr684=) c.2118C>T (p.Tyr706=) c.2115C>T (p.Tyr705=) c.2088C>T (p.Tyr696=) c.2007C>T (p.Tyr669=) c.1992C>T (p.Tyr664=) c.1599C>T (p.Tyr533=) c.2061C>T (p.Tyr687=) c.1995C>T (p.Tyr665=) c.1953C>T (p.Tyr651=) c.1026C>T (p.Tyr342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407253G>C | CA409639192 | KCNQ2 | c.2064C>G (p.Tyr688Ter) c.2010C>G (p.Tyr670Ter) c.1407C>G (p.Tyr469Ter) c.1917C>G (p.Tyr639Ter) c.1578C>G (p.Tyr526Ter) c.1926C>G (p.Tyr642Ter) c.2034C>G (p.Tyr678Ter) c.1998C>G (p.Tyr666Ter) c.1956C>G (p.Tyr652Ter) c.1679+6197C>G (n.1679+6197C>G) c.2052C>G (p.Tyr684Ter) c.2118C>G (p.Tyr706Ter) c.2115C>G (p.Tyr705Ter) c.2088C>G (p.Tyr696Ter) c.2007C>G (p.Tyr669Ter) c.1992C>G (p.Tyr664Ter) c.1599C>G (p.Tyr533Ter) c.2061C>G (p.Tyr687Ter) c.1995C>G (p.Tyr665Ter) c.1953C>G (p.Tyr651Ter) c.1026C>G (p.Tyr342Ter) | |
20 | g.63407253G= | CA2374774510 | KCNQ2 | c.2064C= (p.Tyr688=) c.2010C= (p.Tyr670=) c.1407C= (p.Tyr469=) c.1917C= (p.Tyr639=) c.1578C= (p.Tyr526=) c.1926C= (p.Tyr642=) c.2034C= (p.Tyr678=) c.1998C= (p.Tyr666=) c.1956C= (p.Tyr652=) c.1679+6197C= (n.1679+6197C=) c.2052C= (p.Tyr684=) c.2118C= (p.Tyr706=) c.2115C= (p.Tyr705=) c.2088C= (p.Tyr696=) c.2007C= (p.Tyr669=) c.1992C= (p.Tyr664=) c.1599C= (p.Tyr533=) c.2061C= (p.Tyr687=) c.1995C= (p.Tyr665=) c.1953C= (p.Tyr651=) c.1026C= (p.Tyr342=) | |
20 | g.63407253G>T | CA409639193 | KCNQ2 | c.2064C>A (p.Tyr688Ter) c.2010C>A (p.Tyr670Ter) c.1407C>A (p.Tyr469Ter) c.1917C>A (p.Tyr639Ter) c.1578C>A (p.Tyr526Ter) c.1926C>A (p.Tyr642Ter) c.2034C>A (p.Tyr678Ter) c.1998C>A (p.Tyr666Ter) c.1956C>A (p.Tyr652Ter) c.1679+6197C>A (n.1679+6197C>A) c.2052C>A (p.Tyr684Ter) c.2118C>A (p.Tyr706Ter) c.2115C>A (p.Tyr705Ter) c.2088C>A (p.Tyr696Ter) c.2007C>A (p.Tyr669Ter) c.1992C>A (p.Tyr664Ter) c.1599C>A (p.Tyr533Ter) c.2061C>A (p.Tyr687Ter) c.1995C>A (p.Tyr665Ter) c.1953C>A (p.Tyr651Ter) c.1026C>A (p.Tyr342Ter) | gnomAD v4 |
20 | g.63407254T>A | CA409639196 | KCNQ2 | c.2063A>T (p.Tyr688Phe) c.2009A>T (p.Tyr670Phe) c.1406A>T (p.Tyr469Phe) c.1916A>T (p.Tyr639Phe) c.1577A>T (p.Tyr526Phe) c.1925A>T (p.Tyr642Phe) c.2033A>T (p.Tyr678Phe) c.1997A>T (p.Tyr666Phe) c.1955A>T (p.Tyr652Phe) c.1679+6196A>T (n.1679+6196A>T) c.2051A>T (p.Tyr684Phe) c.2117A>T (p.Tyr706Phe) c.2114A>T (p.Tyr705Phe) c.2087A>T (p.Tyr696Phe) c.2006A>T (p.Tyr669Phe) c.1991A>T (p.Tyr664Phe) c.1598A>T (p.Tyr533Phe) c.2060A>T (p.Tyr687Phe) c.1994A>T (p.Tyr665Phe) c.1952A>T (p.Tyr651Phe) c.1025A>T (p.Tyr342Phe) | |
20 | g.63407254T>C | CA409639194 | KCNQ2 | c.2063A>G (p.Tyr688Cys) c.2009A>G (p.Tyr670Cys) c.1406A>G (p.Tyr469Cys) c.1916A>G (p.Tyr639Cys) c.1577A>G (p.Tyr526Cys) c.1925A>G (p.Tyr642Cys) c.2033A>G (p.Tyr678Cys) c.1997A>G (p.Tyr666Cys) c.1955A>G (p.Tyr652Cys) c.1679+6196A>G (n.1679+6196A>G) c.2051A>G (p.Tyr684Cys) c.2117A>G (p.Tyr706Cys) c.2114A>G (p.Tyr705Cys) c.2087A>G (p.Tyr696Cys) c.2006A>G (p.Tyr669Cys) c.1991A>G (p.Tyr664Cys) c.1598A>G (p.Tyr533Cys) c.2060A>G (p.Tyr687Cys) c.1994A>G (p.Tyr665Cys) c.1952A>G (p.Tyr651Cys) c.1025A>G (p.Tyr342Cys) | gnomAD v4 |
20 | g.63407254T>G | CA409639195 | KCNQ2 | c.2063A>C (p.Tyr688Ser) c.2009A>C (p.Tyr670Ser) c.1406A>C (p.Tyr469Ser) c.1916A>C (p.Tyr639Ser) c.1577A>C (p.Tyr526Ser) c.1925A>C (p.Tyr642Ser) c.2033A>C (p.Tyr678Ser) c.1997A>C (p.Tyr666Ser) c.1955A>C (p.Tyr652Ser) c.1679+6196A>C (n.1679+6196A>C) c.2051A>C (p.Tyr684Ser) c.2117A>C (p.Tyr706Ser) c.2114A>C (p.Tyr705Ser) c.2087A>C (p.Tyr696Ser) c.2006A>C (p.Tyr669Ser) c.1991A>C (p.Tyr664Ser) c.1598A>C (p.Tyr533Ser) c.2060A>C (p.Tyr687Ser) c.1994A>C (p.Tyr665Ser) c.1952A>C (p.Tyr651Ser) c.1025A>C (p.Tyr342Ser) | |
20 | g.63407255A>C | CA409639197 | KCNQ2 | c.2062T>G (p.Tyr688Asp) c.2008T>G (p.Tyr670Asp) c.1405T>G (p.Tyr469Asp) c.1915T>G (p.Tyr639Asp) c.1576T>G (p.Tyr526Asp) c.1924T>G (p.Tyr642Asp) c.2032T>G (p.Tyr678Asp) c.1996T>G (p.Tyr666Asp) c.1954T>G (p.Tyr652Asp) c.1679+6195T>G (n.1679+6195T>G) c.2050T>G (p.Tyr684Asp) c.2116T>G (p.Tyr706Asp) c.2113T>G (p.Tyr705Asp) c.2086T>G (p.Tyr696Asp) c.2005T>G (p.Tyr669Asp) c.1990T>G (p.Tyr664Asp) c.1597T>G (p.Tyr533Asp) c.2059T>G (p.Tyr687Asp) c.1993T>G (p.Tyr665Asp) c.1951T>G (p.Tyr651Asp) c.1024T>G (p.Tyr342Asp) | |
20 | g.63407255A>G | CA409639198 | KCNQ2 | c.2062T>C (p.Tyr688His) c.2008T>C (p.Tyr670His) c.1405T>C (p.Tyr469His) c.1915T>C (p.Tyr639His) c.1576T>C (p.Tyr526His) c.1924T>C (p.Tyr642His) c.2032T>C (p.Tyr678His) c.1996T>C (p.Tyr666His) c.1954T>C (p.Tyr652His) c.1679+6195T>C (n.1679+6195T>C) c.2050T>C (p.Tyr684His) c.2116T>C (p.Tyr706His) c.2113T>C (p.Tyr705His) c.2086T>C (p.Tyr696His) c.2005T>C (p.Tyr669His) c.1990T>C (p.Tyr664His) c.1597T>C (p.Tyr533His) c.2059T>C (p.Tyr687His) c.1993T>C (p.Tyr665His) c.1951T>C (p.Tyr651His) c.1024T>C (p.Tyr342His) | |
20 | g.63407255A>T | CA409639199 | KCNQ2 | c.2062T>A (p.Tyr688Asn) c.2008T>A (p.Tyr670Asn) c.1405T>A (p.Tyr469Asn) c.1915T>A (p.Tyr639Asn) c.1576T>A (p.Tyr526Asn) c.1924T>A (p.Tyr642Asn) c.2032T>A (p.Tyr678Asn) c.1996T>A (p.Tyr666Asn) c.1954T>A (p.Tyr652Asn) c.1679+6195T>A (n.1679+6195T>A) c.2050T>A (p.Tyr684Asn) c.2116T>A (p.Tyr706Asn) c.2113T>A (p.Tyr705Asn) c.2086T>A (p.Tyr696Asn) c.2005T>A (p.Tyr669Asn) c.1990T>A (p.Tyr664Asn) c.1597T>A (p.Tyr533Asn) c.2059T>A (p.Tyr687Asn) c.1993T>A (p.Tyr665Asn) c.1951T>A (p.Tyr651Asn) c.1024T>A (p.Tyr342Asn) | |
20 | g.63407256C>A | CA511339443 | KCNQ2 | c.2061G>T (p.Pro687=) c.2007G>T (p.Pro669=) c.1404G>T (p.Pro468=) c.1914G>T (p.Pro638=) c.1575G>T (p.Pro525=) c.1923G>T (p.Pro641=) c.2031G>T (p.Pro677=) c.1995G>T (p.Pro665=) c.1953G>T (p.Pro651=) c.1679+6194G>T (n.1679+6194G>T) c.2049G>T (p.Pro683=) c.2115G>T (p.Pro705=) c.2112G>T (p.Pro704=) c.2085G>T (p.Pro695=) c.2004G>T (p.Pro668=) c.1989G>T (p.Pro663=) c.1596G>T (p.Pro532=) c.2058G>T (p.Pro686=) c.1992G>T (p.Pro664=) c.1950G>T (p.Pro650=) c.1023G>T (p.Pro341=) | gnomAD v4 |
20 | g.63407256C= | CA2374774511 | KCNQ2 | c.2061G= (p.Pro687=) c.2007G= (p.Pro669=) c.1404G= (p.Pro468=) c.1914G= (p.Pro638=) c.1575G= (p.Pro525=) c.1923G= (p.Pro641=) c.2031G= (p.Pro677=) c.1995G= (p.Pro665=) c.1953G= (p.Pro651=) c.1679+6194G= (n.1679+6194G=) c.2049G= (p.Pro683=) c.2115G= (p.Pro705=) c.2112G= (p.Pro704=) c.2085G= (p.Pro695=) c.2004G= (p.Pro668=) c.1989G= (p.Pro663=) c.1596G= (p.Pro532=) c.2058G= (p.Pro686=) c.1992G= (p.Pro664=) c.1950G= (p.Pro650=) c.1023G= (p.Pro341=) | |
20 | g.63407256C>G | CA9958173 | KCNQ2 | c.2061G>C (p.Pro687=) c.2007G>C (p.Pro669=) c.1404G>C (p.Pro468=) c.1914G>C (p.Pro638=) c.1575G>C (p.Pro525=) c.1923G>C (p.Pro641=) c.2031G>C (p.Pro677=) c.1995G>C (p.Pro665=) c.1953G>C (p.Pro651=) c.1679+6194G>C (n.1679+6194G>C) c.2049G>C (p.Pro683=) c.2115G>C (p.Pro705=) c.2112G>C (p.Pro704=) c.2085G>C (p.Pro695=) c.2004G>C (p.Pro668=) c.1989G>C (p.Pro663=) c.1596G>C (p.Pro532=) c.2058G>C (p.Pro686=) c.1992G>C (p.Pro664=) c.1950G>C (p.Pro650=) c.1023G>C (p.Pro341=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407256C>T | CA9958172 | KCNQ2 | c.2061G>A (p.Pro687=) c.2007G>A (p.Pro669=) c.1404G>A (p.Pro468=) c.1914G>A (p.Pro638=) c.1575G>A (p.Pro525=) c.1923G>A (p.Pro641=) c.2031G>A (p.Pro677=) c.1995G>A (p.Pro665=) c.1953G>A (p.Pro651=) c.1679+6194G>A (n.1679+6194G>A) c.2049G>A (p.Pro683=) c.2115G>A (p.Pro705=) c.2112G>A (p.Pro704=) c.2085G>A (p.Pro695=) c.2004G>A (p.Pro668=) c.1989G>A (p.Pro663=) c.1596G>A (p.Pro532=) c.2058G>A (p.Pro686=) c.1992G>A (p.Pro664=) c.1950G>A (p.Pro650=) c.1023G>A (p.Pro341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407257G>A | CA9958174 | KCNQ2 | c.2060C>T (p.Pro687Leu) c.2006C>T (p.Pro669Leu) c.1403C>T (p.Pro468Leu) c.1913C>T (p.Pro638Leu) c.1574C>T (p.Pro525Leu) c.1922C>T (p.Pro641Leu) c.2030C>T (p.Pro677Leu) c.1994C>T (p.Pro665Leu) c.1952C>T (p.Pro651Leu) c.1679+6193C>T (n.1679+6193C>T) c.2048C>T (p.Pro683Leu) c.2114C>T (p.Pro705Leu) c.2111C>T (p.Pro704Leu) c.2084C>T (p.Pro695Leu) c.2003C>T (p.Pro668Leu) c.1988C>T (p.Pro663Leu) c.1595C>T (p.Pro532Leu) c.2057C>T (p.Pro686Leu) c.1991C>T (p.Pro664Leu) c.1949C>T (p.Pro650Leu) c.1022C>T (p.Pro341Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407257G>C | CA409639200 | KCNQ2 | c.2060C>G (p.Pro687Arg) c.2006C>G (p.Pro669Arg) c.1403C>G (p.Pro468Arg) c.1913C>G (p.Pro638Arg) c.1574C>G (p.Pro525Arg) c.1922C>G (p.Pro641Arg) c.2030C>G (p.Pro677Arg) c.1994C>G (p.Pro665Arg) c.1952C>G (p.Pro651Arg) c.1679+6193C>G (n.1679+6193C>G) c.2048C>G (p.Pro683Arg) c.2114C>G (p.Pro705Arg) c.2111C>G (p.Pro704Arg) c.2084C>G (p.Pro695Arg) c.2003C>G (p.Pro668Arg) c.1988C>G (p.Pro663Arg) c.1595C>G (p.Pro532Arg) c.2057C>G (p.Pro686Arg) c.1991C>G (p.Pro664Arg) c.1949C>G (p.Pro650Arg) c.1022C>G (p.Pro341Arg) | gnomAD v4 |
20 | g.63407257G= | CA2374774512 | KCNQ2 | c.2060C= (p.Pro687=) c.2006C= (p.Pro669=) c.1403C= (p.Pro468=) c.1913C= (p.Pro638=) c.1574C= (p.Pro525=) c.1922C= (p.Pro641=) c.2030C= (p.Pro677=) c.1994C= (p.Pro665=) c.1952C= (p.Pro651=) c.1679+6193C= (n.1679+6193C=) c.2048C= (p.Pro683=) c.2114C= (p.Pro705=) c.2111C= (p.Pro704=) c.2084C= (p.Pro695=) c.2003C= (p.Pro668=) c.1988C= (p.Pro663=) c.1595C= (p.Pro532=) c.2057C= (p.Pro686=) c.1991C= (p.Pro664=) c.1949C= (p.Pro650=) c.1022C= (p.Pro341=) | |
20 | g.63407257G>T | CA409639201 | KCNQ2 | c.2060C>A (p.Pro687Gln) c.2006C>A (p.Pro669Gln) c.1403C>A (p.Pro468Gln) c.1913C>A (p.Pro638Gln) c.1574C>A (p.Pro525Gln) c.1922C>A (p.Pro641Gln) c.2030C>A (p.Pro677Gln) c.1994C>A (p.Pro665Gln) c.1952C>A (p.Pro651Gln) c.1679+6193C>A (n.1679+6193C>A) c.2048C>A (p.Pro683Gln) c.2114C>A (p.Pro705Gln) c.2111C>A (p.Pro704Gln) c.2084C>A (p.Pro695Gln) c.2003C>A (p.Pro668Gln) c.1988C>A (p.Pro663Gln) c.1595C>A (p.Pro532Gln) c.2057C>A (p.Pro686Gln) c.1991C>A (p.Pro664Gln) c.1949C>A (p.Pro650Gln) c.1022C>A (p.Pro341Gln) | gnomAD v4 |
20 | g.63407258G>A | CA409639202 | KCNQ2 | c.2059C>T (p.Pro687Ser) c.2005C>T (p.Pro669Ser) c.1402C>T (p.Pro468Ser) c.1912C>T (p.Pro638Ser) c.1573C>T (p.Pro525Ser) c.1921C>T (p.Pro641Ser) c.2029C>T (p.Pro677Ser) c.1993C>T (p.Pro665Ser) c.1951C>T (p.Pro651Ser) c.1679+6192C>T (n.1679+6192C>T) c.2047C>T (p.Pro683Ser) c.2113C>T (p.Pro705Ser) c.2110C>T (p.Pro704Ser) c.2083C>T (p.Pro695Ser) c.2002C>T (p.Pro668Ser) c.1987C>T (p.Pro663Ser) c.1594C>T (p.Pro532Ser) c.2056C>T (p.Pro686Ser) c.1990C>T (p.Pro664Ser) c.1948C>T (p.Pro650Ser) c.1021C>T (p.Pro341Ser) | |
20 | g.63407258G>C | CA409639203 | KCNQ2 | c.2059C>G (p.Pro687Ala) c.2005C>G (p.Pro669Ala) c.1402C>G (p.Pro468Ala) c.1912C>G (p.Pro638Ala) c.1573C>G (p.Pro525Ala) c.1921C>G (p.Pro641Ala) c.2029C>G (p.Pro677Ala) c.1993C>G (p.Pro665Ala) c.1951C>G (p.Pro651Ala) c.1679+6192C>G (n.1679+6192C>G) c.2047C>G (p.Pro683Ala) c.2113C>G (p.Pro705Ala) c.2110C>G (p.Pro704Ala) c.2083C>G (p.Pro695Ala) c.2002C>G (p.Pro668Ala) c.1987C>G (p.Pro663Ala) c.1594C>G (p.Pro532Ala) c.2056C>G (p.Pro686Ala) c.1990C>G (p.Pro664Ala) c.1948C>G (p.Pro650Ala) c.1021C>G (p.Pro341Ala) | |
20 | g.63407258G>T | CA409639204 | KCNQ2 | c.2059C>A (p.Pro687Thr) c.2005C>A (p.Pro669Thr) c.1402C>A (p.Pro468Thr) c.1912C>A (p.Pro638Thr) c.1573C>A (p.Pro525Thr) c.1921C>A (p.Pro641Thr) c.2029C>A (p.Pro677Thr) c.1993C>A (p.Pro665Thr) c.1951C>A (p.Pro651Thr) c.1679+6192C>A (n.1679+6192C>A) c.2047C>A (p.Pro683Thr) c.2113C>A (p.Pro705Thr) c.2110C>A (p.Pro704Thr) c.2083C>A (p.Pro695Thr) c.2002C>A (p.Pro668Thr) c.1987C>A (p.Pro663Thr) c.1594C>A (p.Pro532Thr) c.2056C>A (p.Pro686Thr) c.1990C>A (p.Pro664Thr) c.1948C>A (p.Pro650Thr) c.1021C>A (p.Pro341Thr) | gnomAD v4 |
20 | g.63407259C>A | CA511339444 | KCNQ2 | c.2058G>T (p.Pro686=) c.2004G>T (p.Pro668=) c.1401G>T (p.Pro467=) c.1911G>T (p.Pro637=) c.1572G>T (p.Pro524=) c.1920G>T (p.Pro640=) c.2028G>T (p.Pro676=) c.1992G>T (p.Pro664=) c.1950G>T (p.Pro650=) c.1679+6191G>T (n.1679+6191G>T) c.2046G>T (p.Pro682=) c.2112G>T (p.Pro704=) c.2109G>T (p.Pro703=) c.2082G>T (p.Pro694=) c.2001G>T (p.Pro667=) c.1986G>T (p.Pro662=) c.1593G>T (p.Pro531=) c.2055G>T (p.Pro685=) c.1989G>T (p.Pro663=) c.1947G>T (p.Pro649=) c.1020G>T (p.Pro340=) | |
20 | g.63407259C= | CA2374774513 | KCNQ2 | c.2058G= (p.Pro686=) c.2004G= (p.Pro668=) c.1401G= (p.Pro467=) c.1911G= (p.Pro637=) c.1572G= (p.Pro524=) c.1920G= (p.Pro640=) c.2028G= (p.Pro676=) c.1992G= (p.Pro664=) c.1950G= (p.Pro650=) c.1679+6191G= (n.1679+6191G=) c.2046G= (p.Pro682=) c.2112G= (p.Pro704=) c.2109G= (p.Pro703=) c.2082G= (p.Pro694=) c.2001G= (p.Pro667=) c.1986G= (p.Pro662=) c.1593G= (p.Pro531=) c.2055G= (p.Pro685=) c.1989G= (p.Pro663=) c.1947G= (p.Pro649=) c.1020G= (p.Pro340=) | |
20 | g.63407259C>G | CA511339445 | KCNQ2 | c.2058G>C (p.Pro686=) c.2004G>C (p.Pro668=) c.1401G>C (p.Pro467=) c.1911G>C (p.Pro637=) c.1572G>C (p.Pro524=) c.1920G>C (p.Pro640=) c.2028G>C (p.Pro676=) c.1992G>C (p.Pro664=) c.1950G>C (p.Pro650=) c.1679+6191G>C (n.1679+6191G>C) c.2046G>C (p.Pro682=) c.2112G>C (p.Pro704=) c.2109G>C (p.Pro703=) c.2082G>C (p.Pro694=) c.2001G>C (p.Pro667=) c.1986G>C (p.Pro662=) c.1593G>C (p.Pro531=) c.2055G>C (p.Pro685=) c.1989G>C (p.Pro663=) c.1947G>C (p.Pro649=) c.1020G>C (p.Pro340=) | |
20 | g.63407259C>T | CA317422459 | KCNQ2 | c.2058G>A (p.Pro686=) c.2004G>A (p.Pro668=) c.1401G>A (p.Pro467=) c.1911G>A (p.Pro637=) c.1572G>A (p.Pro524=) c.1920G>A (p.Pro640=) c.2028G>A (p.Pro676=) c.1992G>A (p.Pro664=) c.1950G>A (p.Pro650=) c.1679+6191G>A (n.1679+6191G>A) c.2046G>A (p.Pro682=) c.2112G>A (p.Pro704=) c.2109G>A (p.Pro703=) c.2082G>A (p.Pro694=) c.2001G>A (p.Pro667=) c.1986G>A (p.Pro662=) c.1593G>A (p.Pro531=) c.2055G>A (p.Pro685=) c.1989G>A (p.Pro663=) c.1947G>A (p.Pro649=) c.1020G>A (p.Pro340=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407260G>A | CA409639206 | KCNQ2 | c.2057C>T (p.Pro686Leu) c.2003C>T (p.Pro668Leu) c.1400C>T (p.Pro467Leu) c.1910C>T (p.Pro637Leu) c.1571C>T (p.Pro524Leu) c.1919C>T (p.Pro640Leu) c.2027C>T (p.Pro676Leu) c.1991C>T (p.Pro664Leu) c.1949C>T (p.Pro650Leu) c.1679+6190C>T (n.1679+6190C>T) c.2045C>T (p.Pro682Leu) c.2111C>T (p.Pro704Leu) c.2108C>T (p.Pro703Leu) c.2081C>T (p.Pro694Leu) c.2000C>T (p.Pro667Leu) c.1985C>T (p.Pro662Leu) c.1592C>T (p.Pro531Leu) c.2054C>T (p.Pro685Leu) c.1988C>T (p.Pro663Leu) c.1946C>T (p.Pro649Leu) c.1019C>T (p.Pro340Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407260G>C | CA409639207 | KCNQ2 | c.2057C>G (p.Pro686Arg) c.2003C>G (p.Pro668Arg) c.1400C>G (p.Pro467Arg) c.1910C>G (p.Pro637Arg) c.1571C>G (p.Pro524Arg) c.1919C>G (p.Pro640Arg) c.2027C>G (p.Pro676Arg) c.1991C>G (p.Pro664Arg) c.1949C>G (p.Pro650Arg) c.1679+6190C>G (n.1679+6190C>G) c.2045C>G (p.Pro682Arg) c.2111C>G (p.Pro704Arg) c.2108C>G (p.Pro703Arg) c.2081C>G (p.Pro694Arg) c.2000C>G (p.Pro667Arg) c.1985C>G (p.Pro662Arg) c.1592C>G (p.Pro531Arg) c.2054C>G (p.Pro685Arg) c.1988C>G (p.Pro663Arg) c.1946C>G (p.Pro649Arg) c.1019C>G (p.Pro340Arg) | |
20 | g.63407260G= | CA2374774514 | KCNQ2 | c.2057C= (p.Pro686=) c.2003C= (p.Pro668=) c.1400C= (p.Pro467=) c.1910C= (p.Pro637=) c.1571C= (p.Pro524=) c.1919C= (p.Pro640=) c.2027C= (p.Pro676=) c.1991C= (p.Pro664=) c.1949C= (p.Pro650=) c.1679+6190C= (n.1679+6190C=) c.2045C= (p.Pro682=) c.2111C= (p.Pro704=) c.2108C= (p.Pro703=) c.2081C= (p.Pro694=) c.2000C= (p.Pro667=) c.1985C= (p.Pro662=) c.1592C= (p.Pro531=) c.2054C= (p.Pro685=) c.1988C= (p.Pro663=) c.1946C= (p.Pro649=) c.1019C= (p.Pro340=) | |
20 | g.63407260G>T | CA409639205 | KCNQ2 | c.2057C>A (p.Pro686Gln) c.2003C>A (p.Pro668Gln) c.1400C>A (p.Pro467Gln) c.1910C>A (p.Pro637Gln) c.1571C>A (p.Pro524Gln) c.1919C>A (p.Pro640Gln) c.2027C>A (p.Pro676Gln) c.1991C>A (p.Pro664Gln) c.1949C>A (p.Pro650Gln) c.1679+6190C>A (n.1679+6190C>A) c.2045C>A (p.Pro682Gln) c.2111C>A (p.Pro704Gln) c.2108C>A (p.Pro703Gln) c.2081C>A (p.Pro694Gln) c.2000C>A (p.Pro667Gln) c.1985C>A (p.Pro662Gln) c.1592C>A (p.Pro531Gln) c.2054C>A (p.Pro685Gln) c.1988C>A (p.Pro663Gln) c.1946C>A (p.Pro649Gln) c.1019C>A (p.Pro340Gln) | COSMIC COSMIC COSMIC |
20 | g.63407261G>A | CA409639208 | KCNQ2 | c.2056C>T (p.Pro686Ser) c.2002C>T (p.Pro668Ser) c.1399C>T (p.Pro467Ser) c.1909C>T (p.Pro637Ser) c.1570C>T (p.Pro524Ser) c.1918C>T (p.Pro640Ser) c.2026C>T (p.Pro676Ser) c.1990C>T (p.Pro664Ser) c.1948C>T (p.Pro650Ser) c.1679+6189C>T (n.1679+6189C>T) c.2044C>T (p.Pro682Ser) c.2110C>T (p.Pro704Ser) c.2107C>T (p.Pro703Ser) c.2080C>T (p.Pro694Ser) c.1999C>T (p.Pro667Ser) c.1984C>T (p.Pro662Ser) c.1591C>T (p.Pro531Ser) c.2053C>T (p.Pro685Ser) c.1987C>T (p.Pro663Ser) c.1945C>T (p.Pro649Ser) c.1018C>T (p.Pro340Ser) | gnomAD v4 |
20 | g.63407261G>C | CA409639210 | KCNQ2 | c.2056C>G (p.Pro686Ala) c.2002C>G (p.Pro668Ala) c.1399C>G (p.Pro467Ala) c.1909C>G (p.Pro637Ala) c.1570C>G (p.Pro524Ala) c.1918C>G (p.Pro640Ala) c.2026C>G (p.Pro676Ala) c.1990C>G (p.Pro664Ala) c.1948C>G (p.Pro650Ala) c.1679+6189C>G (n.1679+6189C>G) c.2044C>G (p.Pro682Ala) c.2110C>G (p.Pro704Ala) c.2107C>G (p.Pro703Ala) c.2080C>G (p.Pro694Ala) c.1999C>G (p.Pro667Ala) c.1984C>G (p.Pro662Ala) c.1591C>G (p.Pro531Ala) c.2053C>G (p.Pro685Ala) c.1987C>G (p.Pro663Ala) c.1945C>G (p.Pro649Ala) c.1018C>G (p.Pro340Ala) | |
20 | g.63407261G>T | CA409639209 | KCNQ2 | c.2056C>A (p.Pro686Thr) c.2002C>A (p.Pro668Thr) c.1399C>A (p.Pro467Thr) c.1909C>A (p.Pro637Thr) c.1570C>A (p.Pro524Thr) c.1918C>A (p.Pro640Thr) c.2026C>A (p.Pro676Thr) c.1990C>A (p.Pro664Thr) c.1948C>A (p.Pro650Thr) c.1679+6189C>A (n.1679+6189C>A) c.2044C>A (p.Pro682Thr) c.2110C>A (p.Pro704Thr) c.2107C>A (p.Pro703Thr) c.2080C>A (p.Pro694Thr) c.1999C>A (p.Pro667Thr) c.1984C>A (p.Pro662Thr) c.1591C>A (p.Pro531Thr) c.2053C>A (p.Pro685Thr) c.1987C>A (p.Pro663Thr) c.1945C>A (p.Pro649Thr) c.1018C>A (p.Pro340Thr) | gnomAD v4 |
20 | g.63407262C>A | CA511339446 | KCNQ2 | c.2055G>T (p.Ala685=) c.2001G>T (p.Ala667=) c.1398G>T (p.Ala466=) c.1908G>T (p.Ala636=) c.1569G>T (p.Ala523=) c.1917G>T (p.Ala639=) c.2025G>T (p.Ala675=) c.1989G>T (p.Ala663=) c.1947G>T (p.Ala649=) c.1679+6188G>T (n.1679+6188G>T) c.2043G>T (p.Ala681=) c.2109G>T (p.Ala703=) c.2106G>T (p.Ala702=) c.2079G>T (p.Ala693=) c.1998G>T (p.Ala666=) c.1983G>T (p.Ala661=) c.1590G>T (p.Ala530=) c.2052G>T (p.Ala684=) c.1986G>T (p.Ala662=) c.1944G>T (p.Ala648=) c.1017G>T (p.Ala339=) | |
20 | g.63407262C= | CA2374774515 | KCNQ2 | c.2055G= (p.Ala685=) c.2001G= (p.Ala667=) c.1398G= (p.Ala466=) c.1908G= (p.Ala636=) c.1569G= (p.Ala523=) c.1917G= (p.Ala639=) c.2025G= (p.Ala675=) c.1989G= (p.Ala663=) c.1947G= (p.Ala649=) c.1679+6188G= (n.1679+6188G=) c.2043G= (p.Ala681=) c.2109G= (p.Ala703=) c.2106G= (p.Ala702=) c.2079G= (p.Ala693=) c.1998G= (p.Ala666=) c.1983G= (p.Ala661=) c.1590G= (p.Ala530=) c.2052G= (p.Ala684=) c.1986G= (p.Ala662=) c.1944G= (p.Ala648=) c.1017G= (p.Ala339=) | |
20 | g.63407262C>G | CA317422479 | KCNQ2 | c.2055G>C (p.Ala685=) c.2001G>C (p.Ala667=) c.1398G>C (p.Ala466=) c.1908G>C (p.Ala636=) c.1569G>C (p.Ala523=) c.1917G>C (p.Ala639=) c.2025G>C (p.Ala675=) c.1989G>C (p.Ala663=) c.1947G>C (p.Ala649=) c.1679+6188G>C (n.1679+6188G>C) c.2043G>C (p.Ala681=) c.2109G>C (p.Ala703=) c.2106G>C (p.Ala702=) c.2079G>C (p.Ala693=) c.1998G>C (p.Ala666=) c.1983G>C (p.Ala661=) c.1590G>C (p.Ala530=) c.2052G>C (p.Ala684=) c.1986G>C (p.Ala662=) c.1944G>C (p.Ala648=) c.1017G>C (p.Ala339=) | dbSNP |
20 | g.63407262C>T | CA9958175 | KCNQ2 | c.2055G>A (p.Ala685=) c.2001G>A (p.Ala667=) c.1398G>A (p.Ala466=) c.1908G>A (p.Ala636=) c.1569G>A (p.Ala523=) c.1917G>A (p.Ala639=) c.2025G>A (p.Ala675=) c.1989G>A (p.Ala663=) c.1947G>A (p.Ala649=) c.1679+6188G>A (n.1679+6188G>A) c.2043G>A (p.Ala681=) c.2109G>A (p.Ala703=) c.2106G>A (p.Ala702=) c.2079G>A (p.Ala693=) c.1998G>A (p.Ala666=) c.1983G>A (p.Ala661=) c.1590G>A (p.Ala530=) c.2052G>A (p.Ala684=) c.1986G>A (p.Ala662=) c.1944G>A (p.Ala648=) c.1017G>A (p.Ala339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407263G>A | CA9958176 | KCNQ2 | c.2054C>T (p.Ala685Val) c.2000C>T (p.Ala667Val) c.1397C>T (p.Ala466Val) c.1907C>T (p.Ala636Val) c.1568C>T (p.Ala523Val) c.1916C>T (p.Ala639Val) c.2024C>T (p.Ala675Val) c.1988C>T (p.Ala663Val) c.1946C>T (p.Ala649Val) c.1679+6187C>T (n.1679+6187C>T) c.2042C>T (p.Ala681Val) c.2108C>T (p.Ala703Val) c.2105C>T (p.Ala702Val) c.2078C>T (p.Ala693Val) c.1997C>T (p.Ala666Val) c.1982C>T (p.Ala661Val) c.1589C>T (p.Ala530Val) c.2051C>T (p.Ala684Val) c.1985C>T (p.Ala662Val) c.1943C>T (p.Ala648Val) c.1016C>T (p.Ala339Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407263G>C | CA409639211 | KCNQ2 | c.2054C>G (p.Ala685Gly) c.2000C>G (p.Ala667Gly) c.1397C>G (p.Ala466Gly) c.1907C>G (p.Ala636Gly) c.1568C>G (p.Ala523Gly) c.1916C>G (p.Ala639Gly) c.2024C>G (p.Ala675Gly) c.1988C>G (p.Ala663Gly) c.1946C>G (p.Ala649Gly) c.1679+6187C>G (n.1679+6187C>G) c.2042C>G (p.Ala681Gly) c.2108C>G (p.Ala703Gly) c.2105C>G (p.Ala702Gly) c.2078C>G (p.Ala693Gly) c.1997C>G (p.Ala666Gly) c.1982C>G (p.Ala661Gly) c.1589C>G (p.Ala530Gly) c.2051C>G (p.Ala684Gly) c.1985C>G (p.Ala662Gly) c.1943C>G (p.Ala648Gly) c.1016C>G (p.Ala339Gly) | |
20 | g.63407263G= | CA2374774516 | KCNQ2 | c.2054C= (p.Ala685=) c.2000C= (p.Ala667=) c.1397C= (p.Ala466=) c.1907C= (p.Ala636=) c.1568C= (p.Ala523=) c.1916C= (p.Ala639=) c.2024C= (p.Ala675=) c.1988C= (p.Ala663=) c.1946C= (p.Ala649=) c.1679+6187C= (n.1679+6187C=) c.2042C= (p.Ala681=) c.2108C= (p.Ala703=) c.2105C= (p.Ala702=) c.2078C= (p.Ala693=) c.1997C= (p.Ala666=) c.1982C= (p.Ala661=) c.1589C= (p.Ala530=) c.2051C= (p.Ala684=) c.1985C= (p.Ala662=) c.1943C= (p.Ala648=) c.1016C= (p.Ala339=) | |
20 | g.63407263G>T | CA409639212 | KCNQ2 | c.2054C>A (p.Ala685Glu) c.2000C>A (p.Ala667Glu) c.1397C>A (p.Ala466Glu) c.1907C>A (p.Ala636Glu) c.1568C>A (p.Ala523Glu) c.1916C>A (p.Ala639Glu) c.2024C>A (p.Ala675Glu) c.1988C>A (p.Ala663Glu) c.1946C>A (p.Ala649Glu) c.1679+6187C>A (n.1679+6187C>A) c.2042C>A (p.Ala681Glu) c.2108C>A (p.Ala703Glu) c.2105C>A (p.Ala702Glu) c.2078C>A (p.Ala693Glu) c.1997C>A (p.Ala666Glu) c.1982C>A (p.Ala661Glu) c.1589C>A (p.Ala530Glu) c.2051C>A (p.Ala684Glu) c.1985C>A (p.Ala662Glu) c.1943C>A (p.Ala648Glu) c.1016C>A (p.Ala339Glu) | gnomAD v4 |
20 | g.63407264C>A | CA409639213 | KCNQ2 | c.2053G>T (p.Ala685Ser) c.1999G>T (p.Ala667Ser) c.1396G>T (p.Ala466Ser) c.1906G>T (p.Ala636Ser) c.1567G>T (p.Ala523Ser) c.1915G>T (p.Ala639Ser) c.2023G>T (p.Ala675Ser) c.1987G>T (p.Ala663Ser) c.1945G>T (p.Ala649Ser) c.1679+6186G>T (n.1679+6186G>T) c.2041G>T (p.Ala681Ser) c.2107G>T (p.Ala703Ser) c.2104G>T (p.Ala702Ser) c.2077G>T (p.Ala693Ser) c.1996G>T (p.Ala666Ser) c.1981G>T (p.Ala661Ser) c.1588G>T (p.Ala530Ser) c.2050G>T (p.Ala684Ser) c.1984G>T (p.Ala662Ser) c.1942G>T (p.Ala648Ser) c.1015G>T (p.Ala339Ser) | |
20 | g.63407264C>G | CA409639214 | KCNQ2 | c.2053G>C (p.Ala685Pro) c.1999G>C (p.Ala667Pro) c.1396G>C (p.Ala466Pro) c.1906G>C (p.Ala636Pro) c.1567G>C (p.Ala523Pro) c.1915G>C (p.Ala639Pro) c.2023G>C (p.Ala675Pro) c.1987G>C (p.Ala663Pro) c.1945G>C (p.Ala649Pro) c.1679+6186G>C (n.1679+6186G>C) c.2041G>C (p.Ala681Pro) c.2107G>C (p.Ala703Pro) c.2104G>C (p.Ala702Pro) c.2077G>C (p.Ala693Pro) c.1996G>C (p.Ala666Pro) c.1981G>C (p.Ala661Pro) c.1588G>C (p.Ala530Pro) c.2050G>C (p.Ala684Pro) c.1984G>C (p.Ala662Pro) c.1942G>C (p.Ala648Pro) c.1015G>C (p.Ala339Pro) | |
20 | g.63407264C>T | CA409639215 | KCNQ2 | c.2053G>A (p.Ala685Thr) c.1999G>A (p.Ala667Thr) c.1396G>A (p.Ala466Thr) c.1906G>A (p.Ala636Thr) c.1567G>A (p.Ala523Thr) c.1915G>A (p.Ala639Thr) c.2023G>A (p.Ala675Thr) c.1987G>A (p.Ala663Thr) c.1945G>A (p.Ala649Thr) c.1679+6186G>A (n.1679+6186G>A) c.2041G>A (p.Ala681Thr) c.2107G>A (p.Ala703Thr) c.2104G>A (p.Ala702Thr) c.2077G>A (p.Ala693Thr) c.1996G>A (p.Ala666Thr) c.1981G>A (p.Ala661Thr) c.1588G>A (p.Ala530Thr) c.2050G>A (p.Ala684Thr) c.1984G>A (p.Ala662Thr) c.1942G>A (p.Ala648Thr) c.1015G>A (p.Ala339Thr) | gnomAD v4 COSMIC |
20 | g.63407265dup | CA920253008 | KCNQ2 | c.2053dup (p.Ala685GlyfsTer?) c.1999dup (p.Ala667GlyfsTer?) c.1396dup (p.Ala466GlyfsTer?) c.1906dup (p.Ala636GlyfsTer?) c.1567dup (p.Ala523GlyfsTer?) c.1915dup (p.Ala639GlyfsTer?) c.2023dup (p.Ala675GlyfsTer?) c.1987dup (p.Ala663GlyfsTer?) c.1945dup (p.Ala649GlyfsTer?) c.1679+6186dup (n.1679+6186dup) c.2041dup (p.Ala681GlyfsTer?) c.2107dup (p.Ala703GlyfsTer?) c.2104dup (p.Ala702GlyfsTer?) c.2077dup (p.Ala693GlyfsTer?) c.1996dup (p.Ala666GlyfsTer?) c.1981dup (p.Ala661GlyfsTer?) c.1588dup (p.Ala530GlyfsTer?) c.2050dup (p.Ala684GlyfsTer?) c.1984dup (p.Ala662GlyfsTer?) c.1942dup (p.Ala648GlyfsTer?) c.1015dup (p.Ala339GlyfsTer?) | dbSNP |
20 | g.63407271_63407276dup | CA2653806089 | KCNQ2 | c.2048_2053dup (p.Pro684_Ala685insGluPro) c.1994_1999dup (p.Pro666_Ala667insGluPro) c.1391_1396dup (p.Pro465_Ala466insGluPro) c.1901_1906dup (p.Pro635_Ala636insGluPro) c.1562_1567dup (p.Pro522_Ala523insGluPro) c.1910_1915dup (p.Pro638_Ala639insGluPro) c.2018_2023dup (p.Pro674_Ala675insGluPro) c.1982_1987dup (p.Pro662_Ala663insGluPro) c.1940_1945dup (p.Pro648_Ala649insGluPro) c.1679+6181_1679+6186dup (n.1679+6181_1679+6186dup) c.2036_2041dup (p.Pro680_Ala681insGluPro) c.2102_2107dup (p.Pro702_Ala703insGluPro) c.2099_2104dup (p.Pro701_Ala702insGluPro) c.2072_2077dup (p.Pro692_Ala693insGluPro) c.1991_1996dup (p.Pro665_Ala666insGluPro) c.1976_1981dup (p.Pro660_Ala661insGluPro) c.1583_1588dup (p.Pro529_Ala530insGluPro) c.2045_2050dup (p.Pro683_Ala684insGluPro) c.1979_1984dup (p.Pro661_Ala662insGluPro) c.1937_1942dup (p.Pro647_Ala648insGluPro) c.1010_1015dup (p.Pro338_Ala339insGluPro) | gnomAD v4 |
20 | g.63407265C>A | CA511339535 | KCNQ2 | c.2052G>T (p.Pro684=) c.1998G>T (p.Pro666=) c.1395G>T (p.Pro465=) c.1905G>T (p.Pro635=) c.1566G>T (p.Pro522=) c.1914G>T (p.Pro638=) c.2022G>T (p.Pro674=) c.1986G>T (p.Pro662=) c.1944G>T (p.Pro648=) c.1679+6185G>T (n.1679+6185G>T) c.2040G>T (p.Pro680=) c.2106G>T (p.Pro702=) c.2103G>T (p.Pro701=) c.2076G>T (p.Pro692=) c.1995G>T (p.Pro665=) c.1980G>T (p.Pro660=) c.1587G>T (p.Pro529=) c.2049G>T (p.Pro683=) c.1983G>T (p.Pro661=) c.1941G>T (p.Pro647=) c.1014G>T (p.Pro338=) | ClinVar dbSNP |
20 | g.63407265C= | CA2374774517 | KCNQ2 | c.2052G= (p.Pro684=) c.1998G= (p.Pro666=) c.1395G= (p.Pro465=) c.1905G= (p.Pro635=) c.1566G= (p.Pro522=) c.1914G= (p.Pro638=) c.2022G= (p.Pro674=) c.1986G= (p.Pro662=) c.1944G= (p.Pro648=) c.1679+6185G= (n.1679+6185G=) c.2040G= (p.Pro680=) c.2106G= (p.Pro702=) c.2103G= (p.Pro701=) c.2076G= (p.Pro692=) c.1995G= (p.Pro665=) c.1980G= (p.Pro660=) c.1587G= (p.Pro529=) c.2049G= (p.Pro683=) c.1983G= (p.Pro661=) c.1941G= (p.Pro647=) c.1014G= (p.Pro338=) | |
20 | g.63407265C>G | CA511339536 | KCNQ2 | c.2052G>C (p.Pro684=) c.1998G>C (p.Pro666=) c.1395G>C (p.Pro465=) c.1905G>C (p.Pro635=) c.1566G>C (p.Pro522=) c.1914G>C (p.Pro638=) c.2022G>C (p.Pro674=) c.1986G>C (p.Pro662=) c.1944G>C (p.Pro648=) c.1679+6185G>C (n.1679+6185G>C) c.2040G>C (p.Pro680=) c.2106G>C (p.Pro702=) c.2103G>C (p.Pro701=) c.2076G>C (p.Pro692=) c.1995G>C (p.Pro665=) c.1980G>C (p.Pro660=) c.1587G>C (p.Pro529=) c.2049G>C (p.Pro683=) c.1983G>C (p.Pro661=) c.1941G>C (p.Pro647=) c.1014G>C (p.Pro338=) | gnomAD v4 |
20 | g.63407265C>T | CA9958177 | KCNQ2 | c.2052G>A (p.Pro684=) c.1998G>A (p.Pro666=) c.1395G>A (p.Pro465=) c.1905G>A (p.Pro635=) c.1566G>A (p.Pro522=) c.1914G>A (p.Pro638=) c.2022G>A (p.Pro674=) c.1986G>A (p.Pro662=) c.1944G>A (p.Pro648=) c.1679+6185G>A (n.1679+6185G>A) c.2040G>A (p.Pro680=) c.2106G>A (p.Pro702=) c.2103G>A (p.Pro701=) c.2076G>A (p.Pro692=) c.1995G>A (p.Pro665=) c.1980G>A (p.Pro660=) c.1587G>A (p.Pro529=) c.2049G>A (p.Pro683=) c.1983G>A (p.Pro661=) c.1941G>A (p.Pro647=) c.1014G>A (p.Pro338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407266G>A | CA9958178 | KCNQ2 | c.2051C>T (p.Pro684Leu) c.1997C>T (p.Pro666Leu) c.1394C>T (p.Pro465Leu) c.1904C>T (p.Pro635Leu) c.1565C>T (p.Pro522Leu) c.1913C>T (p.Pro638Leu) c.2021C>T (p.Pro674Leu) c.1985C>T (p.Pro662Leu) c.1943C>T (p.Pro648Leu) c.1679+6184C>T (n.1679+6184C>T) c.2039C>T (p.Pro680Leu) c.2105C>T (p.Pro702Leu) c.2102C>T (p.Pro701Leu) c.2075C>T (p.Pro692Leu) c.1994C>T (p.Pro665Leu) c.1979C>T (p.Pro660Leu) c.1586C>T (p.Pro529Leu) c.2048C>T (p.Pro683Leu) c.1982C>T (p.Pro661Leu) c.1940C>T (p.Pro647Leu) c.1013C>T (p.Pro338Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407266G>C | CA409639216 | KCNQ2 | c.2051C>G (p.Pro684Arg) c.1997C>G (p.Pro666Arg) c.1394C>G (p.Pro465Arg) c.1904C>G (p.Pro635Arg) c.1565C>G (p.Pro522Arg) c.1913C>G (p.Pro638Arg) c.2021C>G (p.Pro674Arg) c.1985C>G (p.Pro662Arg) c.1943C>G (p.Pro648Arg) c.1679+6184C>G (n.1679+6184C>G) c.2039C>G (p.Pro680Arg) c.2105C>G (p.Pro702Arg) c.2102C>G (p.Pro701Arg) c.2075C>G (p.Pro692Arg) c.1994C>G (p.Pro665Arg) c.1979C>G (p.Pro660Arg) c.1586C>G (p.Pro529Arg) c.2048C>G (p.Pro683Arg) c.1982C>G (p.Pro661Arg) c.1940C>G (p.Pro647Arg) c.1013C>G (p.Pro338Arg) | |
20 | g.63407266G= | CA2374774518 | KCNQ2 | c.2051C= (p.Pro684=) c.1997C= (p.Pro666=) c.1394C= (p.Pro465=) c.1904C= (p.Pro635=) c.1565C= (p.Pro522=) c.1913C= (p.Pro638=) c.2021C= (p.Pro674=) c.1985C= (p.Pro662=) c.1943C= (p.Pro648=) c.1679+6184C= (n.1679+6184C=) c.2039C= (p.Pro680=) c.2105C= (p.Pro702=) c.2102C= (p.Pro701=) c.2075C= (p.Pro692=) c.1994C= (p.Pro665=) c.1979C= (p.Pro660=) c.1586C= (p.Pro529=) c.2048C= (p.Pro683=) c.1982C= (p.Pro661=) c.1940C= (p.Pro647=) c.1013C= (p.Pro338=) | |
20 | g.63407266G>T | CA409639217 | KCNQ2 | c.2051C>A (p.Pro684Gln) c.1997C>A (p.Pro666Gln) c.1394C>A (p.Pro465Gln) c.1904C>A (p.Pro635Gln) c.1565C>A (p.Pro522Gln) c.1913C>A (p.Pro638Gln) c.2021C>A (p.Pro674Gln) c.1985C>A (p.Pro662Gln) c.1943C>A (p.Pro648Gln) c.1679+6184C>A (n.1679+6184C>A) c.2039C>A (p.Pro680Gln) c.2105C>A (p.Pro702Gln) c.2102C>A (p.Pro701Gln) c.2075C>A (p.Pro692Gln) c.1994C>A (p.Pro665Gln) c.1979C>A (p.Pro660Gln) c.1586C>A (p.Pro529Gln) c.2048C>A (p.Pro683Gln) c.1982C>A (p.Pro661Gln) c.1940C>A (p.Pro647Gln) c.1013C>A (p.Pro338Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407267G>A | CA409639218 | KCNQ2 | c.2050C>T (p.Pro684Ser) c.1996C>T (p.Pro666Ser) c.1393C>T (p.Pro465Ser) c.1903C>T (p.Pro635Ser) c.1564C>T (p.Pro522Ser) c.1912C>T (p.Pro638Ser) c.2020C>T (p.Pro674Ser) c.1984C>T (p.Pro662Ser) c.1942C>T (p.Pro648Ser) c.1679+6183C>T (n.1679+6183C>T) c.2038C>T (p.Pro680Ser) c.2104C>T (p.Pro702Ser) c.2101C>T (p.Pro701Ser) c.2074C>T (p.Pro692Ser) c.1993C>T (p.Pro665Ser) c.1978C>T (p.Pro660Ser) c.1585C>T (p.Pro529Ser) c.2047C>T (p.Pro683Ser) c.1981C>T (p.Pro661Ser) c.1939C>T (p.Pro647Ser) c.1012C>T (p.Pro338Ser) | gnomAD v4 |
20 | g.63407267G>C | CA409639220 | KCNQ2 | c.2050C>G (p.Pro684Ala) c.1996C>G (p.Pro666Ala) c.1393C>G (p.Pro465Ala) c.1903C>G (p.Pro635Ala) c.1564C>G (p.Pro522Ala) c.1912C>G (p.Pro638Ala) c.2020C>G (p.Pro674Ala) c.1984C>G (p.Pro662Ala) c.1942C>G (p.Pro648Ala) c.1679+6183C>G (n.1679+6183C>G) c.2038C>G (p.Pro680Ala) c.2104C>G (p.Pro702Ala) c.2101C>G (p.Pro701Ala) c.2074C>G (p.Pro692Ala) c.1993C>G (p.Pro665Ala) c.1978C>G (p.Pro660Ala) c.1585C>G (p.Pro529Ala) c.2047C>G (p.Pro683Ala) c.1981C>G (p.Pro661Ala) c.1939C>G (p.Pro647Ala) c.1012C>G (p.Pro338Ala) | |
20 | g.63407267G>T | CA409639219 | KCNQ2 | c.2050C>A (p.Pro684Thr) c.1996C>A (p.Pro666Thr) c.1393C>A (p.Pro465Thr) c.1903C>A (p.Pro635Thr) c.1564C>A (p.Pro522Thr) c.1912C>A (p.Pro638Thr) c.2020C>A (p.Pro674Thr) c.1984C>A (p.Pro662Thr) c.1942C>A (p.Pro648Thr) c.1679+6183C>A (n.1679+6183C>A) c.2038C>A (p.Pro680Thr) c.2104C>A (p.Pro702Thr) c.2101C>A (p.Pro701Thr) c.2074C>A (p.Pro692Thr) c.1993C>A (p.Pro665Thr) c.1978C>A (p.Pro660Thr) c.1585C>A (p.Pro529Thr) c.2047C>A (p.Pro683Thr) c.1981C>A (p.Pro661Thr) c.1939C>A (p.Pro647Thr) c.1012C>A (p.Pro338Thr) | gnomAD v4 |
20 | g.63407268C>A | CA409639221 | KCNQ2 | c.2049G>T (p.Glu683Asp) c.1995G>T (p.Glu665Asp) c.1392G>T (p.Glu464Asp) c.1902G>T (p.Glu634Asp) c.1563G>T (p.Glu521Asp) c.1911G>T (p.Glu637Asp) c.2019G>T (p.Glu673Asp) c.1983G>T (p.Glu661Asp) c.1941G>T (p.Glu647Asp) c.1679+6182G>T (n.1679+6182G>T) c.2037G>T (p.Glu679Asp) c.2103G>T (p.Glu701Asp) c.2100G>T (p.Glu700Asp) c.2073G>T (p.Glu691Asp) c.1992G>T (p.Glu664Asp) c.1977G>T (p.Glu659Asp) c.1584G>T (p.Glu528Asp) c.2046G>T (p.Glu682Asp) c.1980G>T (p.Glu660Asp) c.1938G>T (p.Glu646Asp) c.1011G>T (p.Glu337Asp) | |
20 | g.63407268C>G | CA409639222 | KCNQ2 | c.2049G>C (p.Glu683Asp) c.1995G>C (p.Glu665Asp) c.1392G>C (p.Glu464Asp) c.1902G>C (p.Glu634Asp) c.1563G>C (p.Glu521Asp) c.1911G>C (p.Glu637Asp) c.2019G>C (p.Glu673Asp) c.1983G>C (p.Glu661Asp) c.1941G>C (p.Glu647Asp) c.1679+6182G>C (n.1679+6182G>C) c.2037G>C (p.Glu679Asp) c.2103G>C (p.Glu701Asp) c.2100G>C (p.Glu700Asp) c.2073G>C (p.Glu691Asp) c.1992G>C (p.Glu664Asp) c.1977G>C (p.Glu659Asp) c.1584G>C (p.Glu528Asp) c.2046G>C (p.Glu682Asp) c.1980G>C (p.Glu660Asp) c.1938G>C (p.Glu646Asp) c.1011G>C (p.Glu337Asp) | |
20 | g.63407268C>T | CA511339537 | KCNQ2 | c.2049G>A (p.Glu683=) c.1995G>A (p.Glu665=) c.1392G>A (p.Glu464=) c.1902G>A (p.Glu634=) c.1563G>A (p.Glu521=) c.1911G>A (p.Glu637=) c.2019G>A (p.Glu673=) c.1983G>A (p.Glu661=) c.1941G>A (p.Glu647=) c.1679+6182G>A (n.1679+6182G>A) c.2037G>A (p.Glu679=) c.2103G>A (p.Glu701=) c.2100G>A (p.Glu700=) c.2073G>A (p.Glu691=) c.1992G>A (p.Glu664=) c.1977G>A (p.Glu659=) c.1584G>A (p.Glu528=) c.2046G>A (p.Glu682=) c.1980G>A (p.Glu660=) c.1938G>A (p.Glu646=) c.1011G>A (p.Glu337=) | |
20 | g.63407269T>A | CA409639223 | KCNQ2 | c.2048A>T (p.Glu683Val) c.1994A>T (p.Glu665Val) c.1391A>T (p.Glu464Val) c.1901A>T (p.Glu634Val) c.1562A>T (p.Glu521Val) c.1910A>T (p.Glu637Val) c.2018A>T (p.Glu673Val) c.1982A>T (p.Glu661Val) c.1940A>T (p.Glu647Val) c.1679+6181A>T (n.1679+6181A>T) c.2036A>T (p.Glu679Val) c.2102A>T (p.Glu701Val) c.2099A>T (p.Glu700Val) c.2072A>T (p.Glu691Val) c.1991A>T (p.Glu664Val) c.1976A>T (p.Glu659Val) c.1583A>T (p.Glu528Val) c.2045A>T (p.Glu682Val) c.1979A>T (p.Glu660Val) c.1937A>T (p.Glu646Val) c.1010A>T (p.Glu337Val) | |
20 | g.63407269T>C | CA409639224 | KCNQ2 | c.2048A>G (p.Glu683Gly) c.1994A>G (p.Glu665Gly) c.1391A>G (p.Glu464Gly) c.1901A>G (p.Glu634Gly) c.1562A>G (p.Glu521Gly) c.1910A>G (p.Glu637Gly) c.2018A>G (p.Glu673Gly) c.1982A>G (p.Glu661Gly) c.1940A>G (p.Glu647Gly) c.1679+6181A>G (n.1679+6181A>G) c.2036A>G (p.Glu679Gly) c.2102A>G (p.Glu701Gly) c.2099A>G (p.Glu700Gly) c.2072A>G (p.Glu691Gly) c.1991A>G (p.Glu664Gly) c.1976A>G (p.Glu659Gly) c.1583A>G (p.Glu528Gly) c.2045A>G (p.Glu682Gly) c.1979A>G (p.Glu660Gly) c.1937A>G (p.Glu646Gly) c.1010A>G (p.Glu337Gly) | dbSNP |
20 | g.63407269T>G | CA409639225 | KCNQ2 | c.2048A>C (p.Glu683Ala) c.1994A>C (p.Glu665Ala) c.1391A>C (p.Glu464Ala) c.1901A>C (p.Glu634Ala) c.1562A>C (p.Glu521Ala) c.1910A>C (p.Glu637Ala) c.2018A>C (p.Glu673Ala) c.1982A>C (p.Glu661Ala) c.1940A>C (p.Glu647Ala) c.1679+6181A>C (n.1679+6181A>C) c.2036A>C (p.Glu679Ala) c.2102A>C (p.Glu701Ala) c.2099A>C (p.Glu700Ala) c.2072A>C (p.Glu691Ala) c.1991A>C (p.Glu664Ala) c.1976A>C (p.Glu659Ala) c.1583A>C (p.Glu528Ala) c.2045A>C (p.Glu682Ala) c.1979A>C (p.Glu660Ala) c.1937A>C (p.Glu646Ala) c.1010A>C (p.Glu337Ala) | |
20 | g.63407269T= | CA2374774519 | KCNQ2 | c.2048A= (p.Glu683=) c.1994A= (p.Glu665=) c.1391A= (p.Glu464=) c.1901A= (p.Glu634=) c.1562A= (p.Glu521=) c.1910A= (p.Glu637=) c.2018A= (p.Glu673=) c.1982A= (p.Glu661=) c.1940A= (p.Glu647=) c.1679+6181A= (n.1679+6181A=) c.2036A= (p.Glu679=) c.2102A= (p.Glu701=) c.2099A= (p.Glu700=) c.2072A= (p.Glu691=) c.1991A= (p.Glu664=) c.1976A= (p.Glu659=) c.1583A= (p.Glu528=) c.2045A= (p.Glu682=) c.1979A= (p.Glu660=) c.1937A= (p.Glu646=) c.1010A= (p.Glu337=) | |
20 | g.63407270C>A | CA409639226 | KCNQ2 | c.2047G>T (p.Glu683Ter) c.1993G>T (p.Glu665Ter) c.1390G>T (p.Glu464Ter) c.1900G>T (p.Glu634Ter) c.1561G>T (p.Glu521Ter) c.1909G>T (p.Glu637Ter) c.2017G>T (p.Glu673Ter) c.1981G>T (p.Glu661Ter) c.1939G>T (p.Glu647Ter) c.1679+6180G>T (n.1679+6180G>T) c.2035G>T (p.Glu679Ter) c.2101G>T (p.Glu701Ter) c.2098G>T (p.Glu700Ter) c.2071G>T (p.Glu691Ter) c.1990G>T (p.Glu664Ter) c.1975G>T (p.Glu659Ter) c.1582G>T (p.Glu528Ter) c.2044G>T (p.Glu682Ter) c.1978G>T (p.Glu660Ter) c.1936G>T (p.Glu646Ter) c.1009G>T (p.Glu337Ter) | |
20 | g.63407270C>G | CA409639227 | KCNQ2 | c.2047G>C (p.Glu683Gln) c.1993G>C (p.Glu665Gln) c.1390G>C (p.Glu464Gln) c.1900G>C (p.Glu634Gln) c.1561G>C (p.Glu521Gln) c.1909G>C (p.Glu637Gln) c.2017G>C (p.Glu673Gln) c.1981G>C (p.Glu661Gln) c.1939G>C (p.Glu647Gln) c.1679+6180G>C (n.1679+6180G>C) c.2035G>C (p.Glu679Gln) c.2101G>C (p.Glu701Gln) c.2098G>C (p.Glu700Gln) c.2071G>C (p.Glu691Gln) c.1990G>C (p.Glu664Gln) c.1975G>C (p.Glu659Gln) c.1582G>C (p.Glu528Gln) c.2044G>C (p.Glu682Gln) c.1978G>C (p.Glu660Gln) c.1936G>C (p.Glu646Gln) c.1009G>C (p.Glu337Gln) | |
20 | g.63407270C>T | CA409639228 | KCNQ2 | c.2047G>A (p.Glu683Lys) c.1993G>A (p.Glu665Lys) c.1390G>A (p.Glu464Lys) c.1900G>A (p.Glu634Lys) c.1561G>A (p.Glu521Lys) c.1909G>A (p.Glu637Lys) c.2017G>A (p.Glu673Lys) c.1981G>A (p.Glu661Lys) c.1939G>A (p.Glu647Lys) c.1679+6180G>A (n.1679+6180G>A) c.2035G>A (p.Glu679Lys) c.2101G>A (p.Glu701Lys) c.2098G>A (p.Glu700Lys) c.2071G>A (p.Glu691Lys) c.1990G>A (p.Glu664Lys) c.1975G>A (p.Glu659Lys) c.1582G>A (p.Glu528Lys) c.2044G>A (p.Glu682Lys) c.1978G>A (p.Glu660Lys) c.1936G>A (p.Glu646Lys) c.1009G>A (p.Glu337Lys) | |
20 | g.63407271C>A | CA511339538 | KCNQ2 | c.2046G>T (p.Pro682=) c.1992G>T (p.Pro664=) c.1389G>T (p.Pro463=) c.1899G>T (p.Pro633=) c.1560G>T (p.Pro520=) c.1908G>T (p.Pro636=) c.2016G>T (p.Pro672=) c.1980G>T (p.Pro660=) c.1938G>T (p.Pro646=) c.1679+6179G>T (n.1679+6179G>T) c.2034G>T (p.Pro678=) c.2100G>T (p.Pro700=) c.2097G>T (p.Pro699=) c.2070G>T (p.Pro690=) c.1989G>T (p.Pro663=) c.1974G>T (p.Pro658=) c.1581G>T (p.Pro527=) c.2043G>T (p.Pro681=) c.1977G>T (p.Pro659=) c.1935G>T (p.Pro645=) c.1008G>T (p.Pro336=) | |
20 | g.63407271C= | CA2374774520 | KCNQ2 | c.2046G= (p.Pro682=) c.1992G= (p.Pro664=) c.1389G= (p.Pro463=) c.1899G= (p.Pro633=) c.1560G= (p.Pro520=) c.1908G= (p.Pro636=) c.2016G= (p.Pro672=) c.1980G= (p.Pro660=) c.1938G= (p.Pro646=) c.1679+6179G= (n.1679+6179G=) c.2034G= (p.Pro678=) c.2100G= (p.Pro700=) c.2097G= (p.Pro699=) c.2070G= (p.Pro690=) c.1989G= (p.Pro663=) c.1974G= (p.Pro658=) c.1581G= (p.Pro527=) c.2043G= (p.Pro681=) c.1977G= (p.Pro659=) c.1935G= (p.Pro645=) c.1008G= (p.Pro336=) | |
20 | g.63407271C>G | CA511339539 | KCNQ2 | c.2046G>C (p.Pro682=) c.1992G>C (p.Pro664=) c.1389G>C (p.Pro463=) c.1899G>C (p.Pro633=) c.1560G>C (p.Pro520=) c.1908G>C (p.Pro636=) c.2016G>C (p.Pro672=) c.1980G>C (p.Pro660=) c.1938G>C (p.Pro646=) c.1679+6179G>C (n.1679+6179G>C) c.2034G>C (p.Pro678=) c.2100G>C (p.Pro700=) c.2097G>C (p.Pro699=) c.2070G>C (p.Pro690=) c.1989G>C (p.Pro663=) c.1974G>C (p.Pro658=) c.1581G>C (p.Pro527=) c.2043G>C (p.Pro681=) c.1977G>C (p.Pro659=) c.1935G>C (p.Pro645=) c.1008G>C (p.Pro336=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407271C>T | CA317422508 | KCNQ2 | c.2046G>A (p.Pro682=) c.1992G>A (p.Pro664=) c.1389G>A (p.Pro463=) c.1899G>A (p.Pro633=) c.1560G>A (p.Pro520=) c.1908G>A (p.Pro636=) c.2016G>A (p.Pro672=) c.1980G>A (p.Pro660=) c.1938G>A (p.Pro646=) c.1679+6179G>A (n.1679+6179G>A) c.2034G>A (p.Pro678=) c.2100G>A (p.Pro700=) c.2097G>A (p.Pro699=) c.2070G>A (p.Pro690=) c.1989G>A (p.Pro663=) c.1974G>A (p.Pro658=) c.1581G>A (p.Pro527=) c.2043G>A (p.Pro681=) c.1977G>A (p.Pro659=) c.1935G>A (p.Pro645=) c.1008G>A (p.Pro336=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407272G>A | CA9958179 | KCNQ2 | c.2045C>T (p.Pro682Leu) c.1991C>T (p.Pro664Leu) c.1388C>T (p.Pro463Leu) c.1898C>T (p.Pro633Leu) c.1559C>T (p.Pro520Leu) c.1907C>T (p.Pro636Leu) c.2015C>T (p.Pro672Leu) c.1979C>T (p.Pro660Leu) c.1937C>T (p.Pro646Leu) c.1679+6178C>T (n.1679+6178C>T) c.2033C>T (p.Pro678Leu) c.2099C>T (p.Pro700Leu) c.2096C>T (p.Pro699Leu) c.2069C>T (p.Pro690Leu) c.1988C>T (p.Pro663Leu) c.1973C>T (p.Pro658Leu) c.1580C>T (p.Pro527Leu) c.2042C>T (p.Pro681Leu) c.1976C>T (p.Pro659Leu) c.1934C>T (p.Pro645Leu) c.1007C>T (p.Pro336Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407272G>C | CA409639230 | KCNQ2 | c.2045C>G (p.Pro682Arg) c.1991C>G (p.Pro664Arg) c.1388C>G (p.Pro463Arg) c.1898C>G (p.Pro633Arg) c.1559C>G (p.Pro520Arg) c.1907C>G (p.Pro636Arg) c.2015C>G (p.Pro672Arg) c.1979C>G (p.Pro660Arg) c.1937C>G (p.Pro646Arg) c.1679+6178C>G (n.1679+6178C>G) c.2033C>G (p.Pro678Arg) c.2099C>G (p.Pro700Arg) c.2096C>G (p.Pro699Arg) c.2069C>G (p.Pro690Arg) c.1988C>G (p.Pro663Arg) c.1973C>G (p.Pro658Arg) c.1580C>G (p.Pro527Arg) c.2042C>G (p.Pro681Arg) c.1976C>G (p.Pro659Arg) c.1934C>G (p.Pro645Arg) c.1007C>G (p.Pro336Arg) | |
20 | g.63407272G= | CA2374774521 | KCNQ2 | c.2045C= (p.Pro682=) c.1991C= (p.Pro664=) c.1388C= (p.Pro463=) c.1898C= (p.Pro633=) c.1559C= (p.Pro520=) c.1907C= (p.Pro636=) c.2015C= (p.Pro672=) c.1979C= (p.Pro660=) c.1937C= (p.Pro646=) c.1679+6178C= (n.1679+6178C=) c.2033C= (p.Pro678=) c.2099C= (p.Pro700=) c.2096C= (p.Pro699=) c.2069C= (p.Pro690=) c.1988C= (p.Pro663=) c.1973C= (p.Pro658=) c.1580C= (p.Pro527=) c.2042C= (p.Pro681=) c.1976C= (p.Pro659=) c.1934C= (p.Pro645=) c.1007C= (p.Pro336=) | |
20 | g.63407272G>T | CA409639229 | KCNQ2 | c.2045C>A (p.Pro682Gln) c.1991C>A (p.Pro664Gln) c.1388C>A (p.Pro463Gln) c.1898C>A (p.Pro633Gln) c.1559C>A (p.Pro520Gln) c.1907C>A (p.Pro636Gln) c.2015C>A (p.Pro672Gln) c.1979C>A (p.Pro660Gln) c.1937C>A (p.Pro646Gln) c.1679+6178C>A (n.1679+6178C>A) c.2033C>A (p.Pro678Gln) c.2099C>A (p.Pro700Gln) c.2096C>A (p.Pro699Gln) c.2069C>A (p.Pro690Gln) c.1988C>A (p.Pro663Gln) c.1973C>A (p.Pro658Gln) c.1580C>A (p.Pro527Gln) c.2042C>A (p.Pro681Gln) c.1976C>A (p.Pro659Gln) c.1934C>A (p.Pro645Gln) c.1007C>A (p.Pro336Gln) | gnomAD v4 |
20 | g.63407273G>A | CA9958180 | KCNQ2 | c.2044C>T (p.Pro682Ser) c.1990C>T (p.Pro664Ser) c.1387C>T (p.Pro463Ser) c.1897C>T (p.Pro633Ser) c.1558C>T (p.Pro520Ser) c.1906C>T (p.Pro636Ser) c.2014C>T (p.Pro672Ser) c.1978C>T (p.Pro660Ser) c.1936C>T (p.Pro646Ser) c.1679+6177C>T (n.1679+6177C>T) c.2032C>T (p.Pro678Ser) c.2098C>T (p.Pro700Ser) c.2095C>T (p.Pro699Ser) c.2068C>T (p.Pro690Ser) c.1987C>T (p.Pro663Ser) c.1972C>T (p.Pro658Ser) c.1579C>T (p.Pro527Ser) c.2041C>T (p.Pro681Ser) c.1975C>T (p.Pro659Ser) c.1933C>T (p.Pro645Ser) c.1006C>T (p.Pro336Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407273G>C | CA409639231 | KCNQ2 | c.2044C>G (p.Pro682Ala) c.1990C>G (p.Pro664Ala) c.1387C>G (p.Pro463Ala) c.1897C>G (p.Pro633Ala) c.1558C>G (p.Pro520Ala) c.1906C>G (p.Pro636Ala) c.2014C>G (p.Pro672Ala) c.1978C>G (p.Pro660Ala) c.1936C>G (p.Pro646Ala) c.1679+6177C>G (n.1679+6177C>G) c.2032C>G (p.Pro678Ala) c.2098C>G (p.Pro700Ala) c.2095C>G (p.Pro699Ala) c.2068C>G (p.Pro690Ala) c.1987C>G (p.Pro663Ala) c.1972C>G (p.Pro658Ala) c.1579C>G (p.Pro527Ala) c.2041C>G (p.Pro681Ala) c.1975C>G (p.Pro659Ala) c.1933C>G (p.Pro645Ala) c.1006C>G (p.Pro336Ala) | |
20 | g.63407273G= | CA2374774522 | KCNQ2 | c.2044C= (p.Pro682=) c.1990C= (p.Pro664=) c.1387C= (p.Pro463=) c.1897C= (p.Pro633=) c.1558C= (p.Pro520=) c.1906C= (p.Pro636=) c.2014C= (p.Pro672=) c.1978C= (p.Pro660=) c.1936C= (p.Pro646=) c.1679+6177C= (n.1679+6177C=) c.2032C= (p.Pro678=) c.2098C= (p.Pro700=) c.2095C= (p.Pro699=) c.2068C= (p.Pro690=) c.1987C= (p.Pro663=) c.1972C= (p.Pro658=) c.1579C= (p.Pro527=) c.2041C= (p.Pro681=) c.1975C= (p.Pro659=) c.1933C= (p.Pro645=) c.1006C= (p.Pro336=) | |
20 | g.63407273G>T | CA409639232 | KCNQ2 | c.2044C>A (p.Pro682Thr) c.1990C>A (p.Pro664Thr) c.1387C>A (p.Pro463Thr) c.1897C>A (p.Pro633Thr) c.1558C>A (p.Pro520Thr) c.1906C>A (p.Pro636Thr) c.2014C>A (p.Pro672Thr) c.1978C>A (p.Pro660Thr) c.1936C>A (p.Pro646Thr) c.1679+6177C>A (n.1679+6177C>A) c.2032C>A (p.Pro678Thr) c.2098C>A (p.Pro700Thr) c.2095C>A (p.Pro699Thr) c.2068C>A (p.Pro690Thr) c.1987C>A (p.Pro663Thr) c.1972C>A (p.Pro658Thr) c.1579C>A (p.Pro527Thr) c.2041C>A (p.Pro681Thr) c.1975C>A (p.Pro659Thr) c.1933C>A (p.Pro645Thr) c.1006C>A (p.Pro336Thr) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407274C>A | CA409639233 | KCNQ2 | c.2043G>T (p.Glu681Asp) c.1989G>T (p.Glu663Asp) c.1386G>T (p.Glu462Asp) c.1896G>T (p.Glu632Asp) c.1557G>T (p.Glu519Asp) c.1905G>T (p.Glu635Asp) c.2013G>T (p.Glu671Asp) c.1977G>T (p.Glu659Asp) c.1935G>T (p.Glu645Asp) c.1679+6176G>T (n.1679+6176G>T) c.2031G>T (p.Glu677Asp) c.2097G>T (p.Glu699Asp) c.2094G>T (p.Glu698Asp) c.2067G>T (p.Glu689Asp) c.1986G>T (p.Glu662Asp) c.1971G>T (p.Glu657Asp) c.1578G>T (p.Glu526Asp) c.2040G>T (p.Glu680Asp) c.1974G>T (p.Glu658Asp) c.1932G>T (p.Glu644Asp) c.1005G>T (p.Glu335Asp) | |
20 | g.63407274C>G | CA409639234 | KCNQ2 | c.2043G>C (p.Glu681Asp) c.1989G>C (p.Glu663Asp) c.1386G>C (p.Glu462Asp) c.1896G>C (p.Glu632Asp) c.1557G>C (p.Glu519Asp) c.1905G>C (p.Glu635Asp) c.2013G>C (p.Glu671Asp) c.1977G>C (p.Glu659Asp) c.1935G>C (p.Glu645Asp) c.1679+6176G>C (n.1679+6176G>C) c.2031G>C (p.Glu677Asp) c.2097G>C (p.Glu699Asp) c.2094G>C (p.Glu698Asp) c.2067G>C (p.Glu689Asp) c.1986G>C (p.Glu662Asp) c.1971G>C (p.Glu657Asp) c.1578G>C (p.Glu526Asp) c.2040G>C (p.Glu680Asp) c.1974G>C (p.Glu658Asp) c.1932G>C (p.Glu644Asp) c.1005G>C (p.Glu335Asp) | |
20 | g.63407274C>T | CA511339540 | KCNQ2 | c.2043G>A (p.Glu681=) c.1989G>A (p.Glu663=) c.1386G>A (p.Glu462=) c.1896G>A (p.Glu632=) c.1557G>A (p.Glu519=) c.1905G>A (p.Glu635=) c.2013G>A (p.Glu671=) c.1977G>A (p.Glu659=) c.1935G>A (p.Glu645=) c.1679+6176G>A (n.1679+6176G>A) c.2031G>A (p.Glu677=) c.2097G>A (p.Glu699=) c.2094G>A (p.Glu698=) c.2067G>A (p.Glu689=) c.1986G>A (p.Glu662=) c.1971G>A (p.Glu657=) c.1578G>A (p.Glu526=) c.2040G>A (p.Glu680=) c.1974G>A (p.Glu658=) c.1932G>A (p.Glu644=) c.1005G>A (p.Glu335=) | |
20 | g.63407275T>A | CA409639236 | KCNQ2 | c.2042A>T (p.Glu681Val) c.1988A>T (p.Glu663Val) c.1385A>T (p.Glu462Val) c.1895A>T (p.Glu632Val) c.1556A>T (p.Glu519Val) c.1904A>T (p.Glu635Val) c.2012A>T (p.Glu671Val) c.1976A>T (p.Glu659Val) c.1934A>T (p.Glu645Val) c.1679+6175A>T (n.1679+6175A>T) c.2030A>T (p.Glu677Val) c.2096A>T (p.Glu699Val) c.2093A>T (p.Glu698Val) c.2066A>T (p.Glu689Val) c.1985A>T (p.Glu662Val) c.1970A>T (p.Glu657Val) c.1577A>T (p.Glu526Val) c.2039A>T (p.Glu680Val) c.1973A>T (p.Glu658Val) c.1931A>T (p.Glu644Val) c.1004A>T (p.Glu335Val) | |
20 | g.63407275T>C | CA315513 | KCNQ2 | c.2042A>G (p.Glu681Gly) c.1988A>G (p.Glu663Gly) c.1385A>G (p.Glu462Gly) c.1895A>G (p.Glu632Gly) c.1556A>G (p.Glu519Gly) c.1904A>G (p.Glu635Gly) c.2012A>G (p.Glu671Gly) c.1976A>G (p.Glu659Gly) c.1934A>G (p.Glu645Gly) c.1679+6175A>G (n.1679+6175A>G) c.2030A>G (p.Glu677Gly) c.2096A>G (p.Glu699Gly) c.2093A>G (p.Glu698Gly) c.2066A>G (p.Glu689Gly) c.1985A>G (p.Glu662Gly) c.1970A>G (p.Glu657Gly) c.1577A>G (p.Glu526Gly) c.2039A>G (p.Glu680Gly) c.1973A>G (p.Glu658Gly) c.1931A>G (p.Glu644Gly) c.1004A>G (p.Glu335Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407275T>G | CA409639235 | KCNQ2 | c.2042A>C (p.Glu681Ala) c.1988A>C (p.Glu663Ala) c.1385A>C (p.Glu462Ala) c.1895A>C (p.Glu632Ala) c.1556A>C (p.Glu519Ala) c.1904A>C (p.Glu635Ala) c.2012A>C (p.Glu671Ala) c.1976A>C (p.Glu659Ala) c.1934A>C (p.Glu645Ala) c.1679+6175A>C (n.1679+6175A>C) c.2030A>C (p.Glu677Ala) c.2096A>C (p.Glu699Ala) c.2093A>C (p.Glu698Ala) c.2066A>C (p.Glu689Ala) c.1985A>C (p.Glu662Ala) c.1970A>C (p.Glu657Ala) c.1577A>C (p.Glu526Ala) c.2039A>C (p.Glu680Ala) c.1973A>C (p.Glu658Ala) c.1931A>C (p.Glu644Ala) c.1004A>C (p.Glu335Ala) | |
20 | g.63407275T= | CA2374774523 | KCNQ2 | c.2042A= (p.Glu681=) c.1988A= (p.Glu663=) c.1385A= (p.Glu462=) c.1895A= (p.Glu632=) c.1556A= (p.Glu519=) c.1904A= (p.Glu635=) c.2012A= (p.Glu671=) c.1976A= (p.Glu659=) c.1934A= (p.Glu645=) c.1679+6175A= (n.1679+6175A=) c.2030A= (p.Glu677=) c.2096A= (p.Glu699=) c.2093A= (p.Glu698=) c.2066A= (p.Glu689=) c.1985A= (p.Glu662=) c.1970A= (p.Glu657=) c.1577A= (p.Glu526=) c.2039A= (p.Glu680=) c.1973A= (p.Glu658=) c.1931A= (p.Glu644=) c.1004A= (p.Glu335=) | |
20 | g.63407276C>A | CA409639237 | KCNQ2 | c.2041G>T (p.Glu681Ter) c.1987G>T (p.Glu663Ter) c.1384G>T (p.Glu462Ter) c.1894G>T (p.Glu632Ter) c.1555G>T (p.Glu519Ter) c.1903G>T (p.Glu635Ter) c.2011G>T (p.Glu671Ter) c.1975G>T (p.Glu659Ter) c.1933G>T (p.Glu645Ter) c.1679+6174G>T (n.1679+6174G>T) c.2029G>T (p.Glu677Ter) c.2095G>T (p.Glu699Ter) c.2092G>T (p.Glu698Ter) c.2065G>T (p.Glu689Ter) c.1984G>T (p.Glu662Ter) c.1969G>T (p.Glu657Ter) c.1576G>T (p.Glu526Ter) c.2038G>T (p.Glu680Ter) c.1972G>T (p.Glu658Ter) c.1930G>T (p.Glu644Ter) c.1003G>T (p.Glu335Ter) | gnomAD v4 |
20 | g.63407276C>G | CA409639238 | KCNQ2 | c.2041G>C (p.Glu681Gln) c.1987G>C (p.Glu663Gln) c.1384G>C (p.Glu462Gln) c.1894G>C (p.Glu632Gln) c.1555G>C (p.Glu519Gln) c.1903G>C (p.Glu635Gln) c.2011G>C (p.Glu671Gln) c.1975G>C (p.Glu659Gln) c.1933G>C (p.Glu645Gln) c.1679+6174G>C (n.1679+6174G>C) c.2029G>C (p.Glu677Gln) c.2095G>C (p.Glu699Gln) c.2092G>C (p.Glu698Gln) c.2065G>C (p.Glu689Gln) c.1984G>C (p.Glu662Gln) c.1969G>C (p.Glu657Gln) c.1576G>C (p.Glu526Gln) c.2038G>C (p.Glu680Gln) c.1972G>C (p.Glu658Gln) c.1930G>C (p.Glu644Gln) c.1003G>C (p.Glu335Gln) | |
20 | g.63407276C>T | CA409639239 | KCNQ2 | c.2041G>A (p.Glu681Lys) c.1987G>A (p.Glu663Lys) c.1384G>A (p.Glu462Lys) c.1894G>A (p.Glu632Lys) c.1555G>A (p.Glu519Lys) c.1903G>A (p.Glu635Lys) c.2011G>A (p.Glu671Lys) c.1975G>A (p.Glu659Lys) c.1933G>A (p.Glu645Lys) c.1679+6174G>A (n.1679+6174G>A) c.2029G>A (p.Glu677Lys) c.2095G>A (p.Glu699Lys) c.2092G>A (p.Glu698Lys) c.2065G>A (p.Glu689Lys) c.1984G>A (p.Glu662Lys) c.1969G>A (p.Glu657Lys) c.1576G>A (p.Glu526Lys) c.2038G>A (p.Glu680Lys) c.1972G>A (p.Glu658Lys) c.1930G>A (p.Glu644Lys) c.1003G>A (p.Glu335Lys) | |
20 | g.63407277T>A | CA409639240 | KCNQ2 | c.2040A>T (p.Lys680Asn) c.1986A>T (p.Lys662Asn) c.1383A>T (p.Lys461Asn) c.1893A>T (p.Lys631Asn) c.1554A>T (p.Lys518Asn) c.1902A>T (p.Lys634Asn) c.2010A>T (p.Lys670Asn) c.1974A>T (p.Lys658Asn) c.1932A>T (p.Lys644Asn) c.1679+6173A>T (n.1679+6173A>T) c.2028A>T (p.Lys676Asn) c.2094A>T (p.Lys698Asn) c.2091A>T (p.Lys697Asn) c.2064A>T (p.Lys688Asn) c.1983A>T (p.Lys661Asn) c.1968A>T (p.Lys656Asn) c.1575A>T (p.Lys525Asn) c.2037A>T (p.Lys679Asn) c.1971A>T (p.Lys657Asn) c.1929A>T (p.Lys643Asn) c.1002A>T (p.Lys334Asn) | |
20 | g.63407277T>C | CA511339541 | KCNQ2 | c.2040A>G (p.Lys680=) c.1986A>G (p.Lys662=) c.1383A>G (p.Lys461=) c.1893A>G (p.Lys631=) c.1554A>G (p.Lys518=) c.1902A>G (p.Lys634=) c.2010A>G (p.Lys670=) c.1974A>G (p.Lys658=) c.1932A>G (p.Lys644=) c.1679+6173A>G (n.1679+6173A>G) c.2028A>G (p.Lys676=) c.2094A>G (p.Lys698=) c.2091A>G (p.Lys697=) c.2064A>G (p.Lys688=) c.1983A>G (p.Lys661=) c.1968A>G (p.Lys656=) c.1575A>G (p.Lys525=) c.2037A>G (p.Lys679=) c.1971A>G (p.Lys657=) c.1929A>G (p.Lys643=) c.1002A>G (p.Lys334=) | |
20 | g.63407277T>G | CA409639241 | KCNQ2 | c.2040A>C (p.Lys680Asn) c.1986A>C (p.Lys662Asn) c.1383A>C (p.Lys461Asn) c.1893A>C (p.Lys631Asn) c.1554A>C (p.Lys518Asn) c.1902A>C (p.Lys634Asn) c.2010A>C (p.Lys670Asn) c.1974A>C (p.Lys658Asn) c.1932A>C (p.Lys644Asn) c.1679+6173A>C (n.1679+6173A>C) c.2028A>C (p.Lys676Asn) c.2094A>C (p.Lys698Asn) c.2091A>C (p.Lys697Asn) c.2064A>C (p.Lys688Asn) c.1983A>C (p.Lys661Asn) c.1968A>C (p.Lys656Asn) c.1575A>C (p.Lys525Asn) c.2037A>C (p.Lys679Asn) c.1971A>C (p.Lys657Asn) c.1929A>C (p.Lys643Asn) c.1002A>C (p.Lys334Asn) | |
20 | g.63407278T>A | CA409639242 | KCNQ2 | c.2039A>T (p.Lys680Ile) c.1985A>T (p.Lys662Ile) c.1382A>T (p.Lys461Ile) c.1892A>T (p.Lys631Ile) c.1553A>T (p.Lys518Ile) c.1901A>T (p.Lys634Ile) c.2009A>T (p.Lys670Ile) c.1973A>T (p.Lys658Ile) c.1931A>T (p.Lys644Ile) c.1679+6172A>T (n.1679+6172A>T) c.2027A>T (p.Lys676Ile) c.2093A>T (p.Lys698Ile) c.2090A>T (p.Lys697Ile) c.2063A>T (p.Lys688Ile) c.1982A>T (p.Lys661Ile) c.1967A>T (p.Lys656Ile) c.1574A>T (p.Lys525Ile) c.2036A>T (p.Lys679Ile) c.1970A>T (p.Lys657Ile) c.1928A>T (p.Lys643Ile) c.1001A>T (p.Lys334Ile) | |
20 | g.63407278T>C | CA409639244 | KCNQ2 | c.2039A>G (p.Lys680Arg) c.1985A>G (p.Lys662Arg) c.1382A>G (p.Lys461Arg) c.1892A>G (p.Lys631Arg) c.1553A>G (p.Lys518Arg) c.1901A>G (p.Lys634Arg) c.2009A>G (p.Lys670Arg) c.1973A>G (p.Lys658Arg) c.1931A>G (p.Lys644Arg) c.1679+6172A>G (n.1679+6172A>G) c.2027A>G (p.Lys676Arg) c.2093A>G (p.Lys698Arg) c.2090A>G (p.Lys697Arg) c.2063A>G (p.Lys688Arg) c.1982A>G (p.Lys661Arg) c.1967A>G (p.Lys656Arg) c.1574A>G (p.Lys525Arg) c.2036A>G (p.Lys679Arg) c.1970A>G (p.Lys657Arg) c.1928A>G (p.Lys643Arg) c.1001A>G (p.Lys334Arg) | |
20 | g.63407278T>G | CA409639243 | KCNQ2 | c.2039A>C (p.Lys680Thr) c.1985A>C (p.Lys662Thr) c.1382A>C (p.Lys461Thr) c.1892A>C (p.Lys631Thr) c.1553A>C (p.Lys518Thr) c.1901A>C (p.Lys634Thr) c.2009A>C (p.Lys670Thr) c.1973A>C (p.Lys658Thr) c.1931A>C (p.Lys644Thr) c.1679+6172A>C (n.1679+6172A>C) c.2027A>C (p.Lys676Thr) c.2093A>C (p.Lys698Thr) c.2090A>C (p.Lys697Thr) c.2063A>C (p.Lys688Thr) c.1982A>C (p.Lys661Thr) c.1967A>C (p.Lys656Thr) c.1574A>C (p.Lys525Thr) c.2036A>C (p.Lys679Thr) c.1970A>C (p.Lys657Thr) c.1928A>C (p.Lys643Thr) c.1001A>C (p.Lys334Thr) | |
20 | g.63407279T>A | CA409639245 | KCNQ2 | c.2038A>T (p.Lys680Ter) c.1984A>T (p.Lys662Ter) c.1381A>T (p.Lys461Ter) c.1891A>T (p.Lys631Ter) c.1552A>T (p.Lys518Ter) c.1900A>T (p.Lys634Ter) c.2008A>T (p.Lys670Ter) c.1972A>T (p.Lys658Ter) c.1930A>T (p.Lys644Ter) c.1679+6171A>T (n.1679+6171A>T) c.2026A>T (p.Lys676Ter) c.2092A>T (p.Lys698Ter) c.2089A>T (p.Lys697Ter) c.2062A>T (p.Lys688Ter) c.1981A>T (p.Lys661Ter) c.1966A>T (p.Lys656Ter) c.1573A>T (p.Lys525Ter) c.2035A>T (p.Lys679Ter) c.1969A>T (p.Lys657Ter) c.1927A>T (p.Lys643Ter) c.1000A>T (p.Lys334Ter) | |
20 | g.63407279T>C | CA409639246 | KCNQ2 | c.2038A>G (p.Lys680Glu) c.1984A>G (p.Lys662Glu) c.1381A>G (p.Lys461Glu) c.1891A>G (p.Lys631Glu) c.1552A>G (p.Lys518Glu) c.1900A>G (p.Lys634Glu) c.2008A>G (p.Lys670Glu) c.1972A>G (p.Lys658Glu) c.1930A>G (p.Lys644Glu) c.1679+6171A>G (n.1679+6171A>G) c.2026A>G (p.Lys676Glu) c.2092A>G (p.Lys698Glu) c.2089A>G (p.Lys697Glu) c.2062A>G (p.Lys688Glu) c.1981A>G (p.Lys661Glu) c.1966A>G (p.Lys656Glu) c.1573A>G (p.Lys525Glu) c.2035A>G (p.Lys679Glu) c.1969A>G (p.Lys657Glu) c.1927A>G (p.Lys643Glu) c.1000A>G (p.Lys334Glu) | |
20 | g.63407279T>G | CA409639247 | KCNQ2 | c.2038A>C (p.Lys680Gln) c.1984A>C (p.Lys662Gln) c.1381A>C (p.Lys461Gln) c.1891A>C (p.Lys631Gln) c.1552A>C (p.Lys518Gln) c.1900A>C (p.Lys634Gln) c.2008A>C (p.Lys670Gln) c.1972A>C (p.Lys658Gln) c.1930A>C (p.Lys644Gln) c.1679+6171A>C (n.1679+6171A>C) c.2026A>C (p.Lys676Gln) c.2092A>C (p.Lys698Gln) c.2089A>C (p.Lys697Gln) c.2062A>C (p.Lys688Gln) c.1981A>C (p.Lys661Gln) c.1966A>C (p.Lys656Gln) c.1573A>C (p.Lys525Gln) c.2035A>C (p.Lys679Gln) c.1969A>C (p.Lys657Gln) c.1927A>C (p.Lys643Gln) c.1000A>C (p.Lys334Gln) | |
20 | g.63407280G>A | CA511339543 | KCNQ2 | c.2037C>T (p.Ala679=) c.1983C>T (p.Ala661=) c.1380C>T (p.Ala460=) c.1890C>T (p.Ala630=) c.1551C>T (p.Ala517=) c.1899C>T (p.Ala633=) c.2007C>T (p.Ala669=) c.1971C>T (p.Ala657=) c.1929C>T (p.Ala643=) c.1679+6170C>T (n.1679+6170C>T) c.2025C>T (p.Ala675=) c.2091C>T (p.Ala697=) c.2088C>T (p.Ala696=) c.2061C>T (p.Ala687=) c.1980C>T (p.Ala660=) c.1965C>T (p.Ala655=) c.1572C>T (p.Ala524=) c.2034C>T (p.Ala678=) c.1968C>T (p.Ala656=) c.1926C>T (p.Ala642=) c.999C>T (p.Ala333=) | gnomAD v4 |
20 | g.63407280G>C | CA511339544 | KCNQ2 | c.2037C>G (p.Ala679=) c.1983C>G (p.Ala661=) c.1380C>G (p.Ala460=) c.1890C>G (p.Ala630=) c.1551C>G (p.Ala517=) c.1899C>G (p.Ala633=) c.2007C>G (p.Ala669=) c.1971C>G (p.Ala657=) c.1929C>G (p.Ala643=) c.1679+6170C>G (n.1679+6170C>G) c.2025C>G (p.Ala675=) c.2091C>G (p.Ala697=) c.2088C>G (p.Ala696=) c.2061C>G (p.Ala687=) c.1980C>G (p.Ala660=) c.1965C>G (p.Ala655=) c.1572C>G (p.Ala524=) c.2034C>G (p.Ala678=) c.1968C>G (p.Ala656=) c.1926C>G (p.Ala642=) c.999C>G (p.Ala333=) | |
20 | g.63407280G>T | CA511339542 | KCNQ2 | c.2037C>A (p.Ala679=) c.1983C>A (p.Ala661=) c.1380C>A (p.Ala460=) c.1890C>A (p.Ala630=) c.1551C>A (p.Ala517=) c.1899C>A (p.Ala633=) c.2007C>A (p.Ala669=) c.1971C>A (p.Ala657=) c.1929C>A (p.Ala643=) c.1679+6170C>A (n.1679+6170C>A) c.2025C>A (p.Ala675=) c.2091C>A (p.Ala697=) c.2088C>A (p.Ala696=) c.2061C>A (p.Ala687=) c.1980C>A (p.Ala660=) c.1965C>A (p.Ala655=) c.1572C>A (p.Ala524=) c.2034C>A (p.Ala678=) c.1968C>A (p.Ala656=) c.1926C>A (p.Ala642=) c.999C>A (p.Ala333=) | gnomAD v4 |
20 | g.63407281G>A | CA409639248 | KCNQ2 | c.2036C>T (p.Ala679Val) c.1982C>T (p.Ala661Val) c.1379C>T (p.Ala460Val) c.1889C>T (p.Ala630Val) c.1550C>T (p.Ala517Val) c.1898C>T (p.Ala633Val) c.2006C>T (p.Ala669Val) c.1970C>T (p.Ala657Val) c.1928C>T (p.Ala643Val) c.1679+6169C>T (n.1679+6169C>T) c.2024C>T (p.Ala675Val) c.2090C>T (p.Ala697Val) c.2087C>T (p.Ala696Val) c.2060C>T (p.Ala687Val) c.1979C>T (p.Ala660Val) c.1964C>T (p.Ala655Val) c.1571C>T (p.Ala524Val) c.2033C>T (p.Ala678Val) c.1967C>T (p.Ala656Val) c.1925C>T (p.Ala642Val) c.998C>T (p.Ala333Val) | |
20 | g.63407281G>C | CA409639249 | KCNQ2 | c.2036C>G (p.Ala679Gly) c.1982C>G (p.Ala661Gly) c.1379C>G (p.Ala460Gly) c.1889C>G (p.Ala630Gly) c.1550C>G (p.Ala517Gly) c.1898C>G (p.Ala633Gly) c.2006C>G (p.Ala669Gly) c.1970C>G (p.Ala657Gly) c.1928C>G (p.Ala643Gly) c.1679+6169C>G (n.1679+6169C>G) c.2024C>G (p.Ala675Gly) c.2090C>G (p.Ala697Gly) c.2087C>G (p.Ala696Gly) c.2060C>G (p.Ala687Gly) c.1979C>G (p.Ala660Gly) c.1964C>G (p.Ala655Gly) c.1571C>G (p.Ala524Gly) c.2033C>G (p.Ala678Gly) c.1967C>G (p.Ala656Gly) c.1925C>G (p.Ala642Gly) c.998C>G (p.Ala333Gly) | |
20 | g.63407281G>T | CA409639250 | KCNQ2 | c.2036C>A (p.Ala679Asp) c.1982C>A (p.Ala661Asp) c.1379C>A (p.Ala460Asp) c.1889C>A (p.Ala630Asp) c.1550C>A (p.Ala517Asp) c.1898C>A (p.Ala633Asp) c.2006C>A (p.Ala669Asp) c.1970C>A (p.Ala657Asp) c.1928C>A (p.Ala643Asp) c.1679+6169C>A (n.1679+6169C>A) c.2024C>A (p.Ala675Asp) c.2090C>A (p.Ala697Asp) c.2087C>A (p.Ala696Asp) c.2060C>A (p.Ala687Asp) c.1979C>A (p.Ala660Asp) c.1964C>A (p.Ala655Asp) c.1571C>A (p.Ala524Asp) c.2033C>A (p.Ala678Asp) c.1967C>A (p.Ala656Asp) c.1925C>A (p.Ala642Asp) c.998C>A (p.Ala333Asp) | gnomAD v4 |
20 | g.63407282C>A | CA409639251 | KCNQ2 | c.2035G>T (p.Ala679Ser) c.1981G>T (p.Ala661Ser) c.1378G>T (p.Ala460Ser) c.1888G>T (p.Ala630Ser) c.1549G>T (p.Ala517Ser) c.1897G>T (p.Ala633Ser) c.2005G>T (p.Ala669Ser) c.1969G>T (p.Ala657Ser) c.1927G>T (p.Ala643Ser) c.1679+6168G>T (n.1679+6168G>T) c.2023G>T (p.Ala675Ser) c.2089G>T (p.Ala697Ser) c.2086G>T (p.Ala696Ser) c.2059G>T (p.Ala687Ser) c.1978G>T (p.Ala660Ser) c.1963G>T (p.Ala655Ser) c.1570G>T (p.Ala524Ser) c.2032G>T (p.Ala678Ser) c.1966G>T (p.Ala656Ser) c.1924G>T (p.Ala642Ser) c.997G>T (p.Ala333Ser) | gnomAD v4 |
20 | g.63407282C>G | CA409639253 | KCNQ2 | c.2035G>C (p.Ala679Pro) c.1981G>C (p.Ala661Pro) c.1378G>C (p.Ala460Pro) c.1888G>C (p.Ala630Pro) c.1549G>C (p.Ala517Pro) c.1897G>C (p.Ala633Pro) c.2005G>C (p.Ala669Pro) c.1969G>C (p.Ala657Pro) c.1927G>C (p.Ala643Pro) c.1679+6168G>C (n.1679+6168G>C) c.2023G>C (p.Ala675Pro) c.2089G>C (p.Ala697Pro) c.2086G>C (p.Ala696Pro) c.2059G>C (p.Ala687Pro) c.1978G>C (p.Ala660Pro) c.1963G>C (p.Ala655Pro) c.1570G>C (p.Ala524Pro) c.2032G>C (p.Ala678Pro) c.1966G>C (p.Ala656Pro) c.1924G>C (p.Ala642Pro) c.997G>C (p.Ala333Pro) | |
20 | g.63407282C>T | CA409639256 | KCNQ2 | c.2035G>A (p.Ala679Thr) c.1981G>A (p.Ala661Thr) c.1378G>A (p.Ala460Thr) c.1888G>A (p.Ala630Thr) c.1549G>A (p.Ala517Thr) c.1897G>A (p.Ala633Thr) c.2005G>A (p.Ala669Thr) c.1969G>A (p.Ala657Thr) c.1927G>A (p.Ala643Thr) c.1679+6168G>A (n.1679+6168G>A) c.2023G>A (p.Ala675Thr) c.2089G>A (p.Ala697Thr) c.2086G>A (p.Ala696Thr) c.2059G>A (p.Ala687Thr) c.1978G>A (p.Ala660Thr) c.1963G>A (p.Ala655Thr) c.1570G>A (p.Ala524Thr) c.2032G>A (p.Ala678Thr) c.1966G>A (p.Ala656Thr) c.1924G>A (p.Ala642Thr) c.997G>A (p.Ala333Thr) | |
20 | g.63407285del | CA2838520116 | KCNQ2 | c.2035del (p.Ala679ProfsTer?) c.1981del (p.Ala661ProfsTer?) c.1378del (p.Ala460ProfsTer?) c.1888del (p.Ala630ProfsTer?) c.1549del (p.Ala517ProfsTer?) c.1897del (p.Ala633ProfsTer?) c.2005del (p.Ala669ProfsTer?) c.1969del (p.Ala657ProfsTer?) c.1927del (p.Ala643ProfsTer?) c.1679+6168del (n.1679+6168del) c.2023del (p.Ala675ProfsTer?) c.2089del (p.Ala697ProfsTer?) c.2086del (p.Ala696ProfsTer?) c.2059del (p.Ala687ProfsTer?) c.1978del (p.Ala660ProfsTer?) c.1963del (p.Ala655ProfsTer?) c.1570del (p.Ala524ProfsTer?) c.2032del (p.Ala678ProfsTer?) c.1966del (p.Ala656ProfsTer?) c.1924del (p.Ala642ProfsTer?) c.997del (p.Ala333ProfsTer?) | |
20 | g.63407283C>A | CA511339547 | KCNQ2 | c.2034G>T (p.Gly678=) c.1980G>T (p.Gly660=) c.1377G>T (p.Gly459=) c.1887G>T (p.Gly629=) c.1548G>T (p.Gly516=) c.1896G>T (p.Gly632=) c.2004G>T (p.Gly668=) c.1968G>T (p.Gly656=) c.1926G>T (p.Gly642=) c.1679+6167G>T (n.1679+6167G>T) c.2022G>T (p.Gly674=) c.2088G>T (p.Gly696=) c.2085G>T (p.Gly695=) c.2058G>T (p.Gly686=) c.1977G>T (p.Gly659=) c.1962G>T (p.Gly654=) c.1569G>T (p.Gly523=) c.2031G>T (p.Gly677=) c.1965G>T (p.Gly655=) c.1923G>T (p.Gly641=) c.996G>T (p.Gly332=) | |
20 | g.63407283C>G | CA511339545 | KCNQ2 | c.2034G>C (p.Gly678=) c.1980G>C (p.Gly660=) c.1377G>C (p.Gly459=) c.1887G>C (p.Gly629=) c.1548G>C (p.Gly516=) c.1896G>C (p.Gly632=) c.2004G>C (p.Gly668=) c.1968G>C (p.Gly656=) c.1926G>C (p.Gly642=) c.1679+6167G>C (n.1679+6167G>C) c.2022G>C (p.Gly674=) c.2088G>C (p.Gly696=) c.2085G>C (p.Gly695=) c.2058G>C (p.Gly686=) c.1977G>C (p.Gly659=) c.1962G>C (p.Gly654=) c.1569G>C (p.Gly523=) c.2031G>C (p.Gly677=) c.1965G>C (p.Gly655=) c.1923G>C (p.Gly641=) c.996G>C (p.Gly332=) | |
20 | g.63407283C>T | CA511339546 | KCNQ2 | c.2034G>A (p.Gly678=) c.1980G>A (p.Gly660=) c.1377G>A (p.Gly459=) c.1887G>A (p.Gly629=) c.1548G>A (p.Gly516=) c.1896G>A (p.Gly632=) c.2004G>A (p.Gly668=) c.1968G>A (p.Gly656=) c.1926G>A (p.Gly642=) c.1679+6167G>A (n.1679+6167G>A) c.2022G>A (p.Gly674=) c.2088G>A (p.Gly696=) c.2085G>A (p.Gly695=) c.2058G>A (p.Gly686=) c.1977G>A (p.Gly659=) c.1962G>A (p.Gly654=) c.1569G>A (p.Gly523=) c.2031G>A (p.Gly677=) c.1965G>A (p.Gly655=) c.1923G>A (p.Gly641=) c.996G>A (p.Gly332=) | |
20 | g.63407284C>A | CA409639258 | KCNQ2 | c.2033G>T (p.Gly678Val) c.1979G>T (p.Gly660Val) c.1376G>T (p.Gly459Val) c.1886G>T (p.Gly629Val) c.1547G>T (p.Gly516Val) c.1895G>T (p.Gly632Val) c.2003G>T (p.Gly668Val) c.1967G>T (p.Gly656Val) c.1925G>T (p.Gly642Val) c.1679+6166G>T (n.1679+6166G>T) c.2021G>T (p.Gly674Val) c.2087G>T (p.Gly696Val) c.2084G>T (p.Gly695Val) c.2057G>T (p.Gly686Val) c.1976G>T (p.Gly659Val) c.1961G>T (p.Gly654Val) c.1568G>T (p.Gly523Val) c.2030G>T (p.Gly677Val) c.1964G>T (p.Gly655Val) c.1922G>T (p.Gly641Val) c.995G>T (p.Gly332Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407284C= | CA2374774524 | KCNQ2 | c.2033G= (p.Gly678=) c.1979G= (p.Gly660=) c.1376G= (p.Gly459=) c.1886G= (p.Gly629=) c.1547G= (p.Gly516=) c.1895G= (p.Gly632=) c.2003G= (p.Gly668=) c.1967G= (p.Gly656=) c.1925G= (p.Gly642=) c.1679+6166G= (n.1679+6166G=) c.2021G= (p.Gly674=) c.2087G= (p.Gly696=) c.2084G= (p.Gly695=) c.2057G= (p.Gly686=) c.1976G= (p.Gly659=) c.1961G= (p.Gly654=) c.1568G= (p.Gly523=) c.2030G= (p.Gly677=) c.1964G= (p.Gly655=) c.1922G= (p.Gly641=) c.995G= (p.Gly332=) | |
20 | g.63407284C>G | CA409639259 | KCNQ2 | c.2033G>C (p.Gly678Ala) c.1979G>C (p.Gly660Ala) c.1376G>C (p.Gly459Ala) c.1886G>C (p.Gly629Ala) c.1547G>C (p.Gly516Ala) c.1895G>C (p.Gly632Ala) c.2003G>C (p.Gly668Ala) c.1967G>C (p.Gly656Ala) c.1925G>C (p.Gly642Ala) c.1679+6166G>C (n.1679+6166G>C) c.2021G>C (p.Gly674Ala) c.2087G>C (p.Gly696Ala) c.2084G>C (p.Gly695Ala) c.2057G>C (p.Gly686Ala) c.1976G>C (p.Gly659Ala) c.1961G>C (p.Gly654Ala) c.1568G>C (p.Gly523Ala) c.2030G>C (p.Gly677Ala) c.1964G>C (p.Gly655Ala) c.1922G>C (p.Gly641Ala) c.995G>C (p.Gly332Ala) | |
20 | g.63407284C>T | CA409639260 | KCNQ2 | c.2033G>A (p.Gly678Glu) c.1979G>A (p.Gly660Glu) c.1376G>A (p.Gly459Glu) c.1886G>A (p.Gly629Glu) c.1547G>A (p.Gly516Glu) c.1895G>A (p.Gly632Glu) c.2003G>A (p.Gly668Glu) c.1967G>A (p.Gly656Glu) c.1925G>A (p.Gly642Glu) c.1679+6166G>A (n.1679+6166G>A) c.2021G>A (p.Gly674Glu) c.2087G>A (p.Gly696Glu) c.2084G>A (p.Gly695Glu) c.2057G>A (p.Gly686Glu) c.1976G>A (p.Gly659Glu) c.1961G>A (p.Gly654Glu) c.1568G>A (p.Gly523Glu) c.2030G>A (p.Gly677Glu) c.1964G>A (p.Gly655Glu) c.1922G>A (p.Gly641Glu) c.995G>A (p.Gly332Glu) | |
20 | g.63407285C>A | CA409639266 | KCNQ2 | c.2032G>T (p.Gly678Trp) c.1978G>T (p.Gly660Trp) c.1375G>T (p.Gly459Trp) c.1885G>T (p.Gly629Trp) c.1546G>T (p.Gly516Trp) c.1894G>T (p.Gly632Trp) c.2002G>T (p.Gly668Trp) c.1966G>T (p.Gly656Trp) c.1924G>T (p.Gly642Trp) c.1679+6165G>T (n.1679+6165G>T) c.2020G>T (p.Gly674Trp) c.2086G>T (p.Gly696Trp) c.2083G>T (p.Gly695Trp) c.2056G>T (p.Gly686Trp) c.1975G>T (p.Gly659Trp) c.1960G>T (p.Gly654Trp) c.1567G>T (p.Gly523Trp) c.2029G>T (p.Gly677Trp) c.1963G>T (p.Gly655Trp) c.1921G>T (p.Gly641Trp) c.994G>T (p.Gly332Trp) | gnomAD v4 |
20 | g.63407285C= | CA2374774525 | KCNQ2 | c.2032G= (p.Gly678=) c.1978G= (p.Gly660=) c.1375G= (p.Gly459=) c.1885G= (p.Gly629=) c.1546G= (p.Gly516=) c.1894G= (p.Gly632=) c.2002G= (p.Gly668=) c.1966G= (p.Gly656=) c.1924G= (p.Gly642=) c.1679+6165G= (n.1679+6165G=) c.2020G= (p.Gly674=) c.2086G= (p.Gly696=) c.2083G= (p.Gly695=) c.2056G= (p.Gly686=) c.1975G= (p.Gly659=) c.1960G= (p.Gly654=) c.1567G= (p.Gly523=) c.2029G= (p.Gly677=) c.1963G= (p.Gly655=) c.1921G= (p.Gly641=) c.994G= (p.Gly332=) | |
20 | g.63407285C>G | CA409639265 | KCNQ2 | c.2032G>C (p.Gly678Arg) c.1978G>C (p.Gly660Arg) c.1375G>C (p.Gly459Arg) c.1885G>C (p.Gly629Arg) c.1546G>C (p.Gly516Arg) c.1894G>C (p.Gly632Arg) c.2002G>C (p.Gly668Arg) c.1966G>C (p.Gly656Arg) c.1924G>C (p.Gly642Arg) c.1679+6165G>C (n.1679+6165G>C) c.2020G>C (p.Gly674Arg) c.2086G>C (p.Gly696Arg) c.2083G>C (p.Gly695Arg) c.2056G>C (p.Gly686Arg) c.1975G>C (p.Gly659Arg) c.1960G>C (p.Gly654Arg) c.1567G>C (p.Gly523Arg) c.2029G>C (p.Gly677Arg) c.1963G>C (p.Gly655Arg) c.1921G>C (p.Gly641Arg) c.994G>C (p.Gly332Arg) | |
20 | g.63407285C>T | CA409639264 | KCNQ2 | c.2032G>A (p.Gly678Arg) c.1978G>A (p.Gly660Arg) c.1375G>A (p.Gly459Arg) c.1885G>A (p.Gly629Arg) c.1546G>A (p.Gly516Arg) c.1894G>A (p.Gly632Arg) c.2002G>A (p.Gly668Arg) c.1966G>A (p.Gly656Arg) c.1924G>A (p.Gly642Arg) c.1679+6165G>A (n.1679+6165G>A) c.2020G>A (p.Gly674Arg) c.2086G>A (p.Gly696Arg) c.2083G>A (p.Gly695Arg) c.2056G>A (p.Gly686Arg) c.1975G>A (p.Gly659Arg) c.1960G>A (p.Gly654Arg) c.1567G>A (p.Gly523Arg) c.2029G>A (p.Gly677Arg) c.1963G>A (p.Gly655Arg) c.1921G>A (p.Gly641Arg) c.994G>A (p.Gly332Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407286A= | CA2374774526 | KCNQ2 | c.2031T= (p.Phe677=) c.1977T= (p.Phe659=) c.1374T= (p.Phe458=) c.1884T= (p.Phe628=) c.1545T= (p.Phe515=) c.1893T= (p.Phe631=) c.2001T= (p.Phe667=) c.1965T= (p.Phe655=) c.1923T= (p.Phe641=) c.1679+6164T= (n.1679+6164T=) c.2019T= (p.Phe673=) c.2085T= (p.Phe695=) c.2082T= (p.Phe694=) c.2055T= (p.Phe685=) c.1974T= (p.Phe658=) c.1959T= (p.Phe653=) c.1566T= (p.Phe522=) c.2028T= (p.Phe676=) c.1962T= (p.Phe654=) c.1920T= (p.Phe640=) c.993T= (p.Phe331=) | |
20 | g.63407286A>C | CA409639270 | KCNQ2 | c.2031T>G (p.Phe677Leu) c.1977T>G (p.Phe659Leu) c.1374T>G (p.Phe458Leu) c.1884T>G (p.Phe628Leu) c.1545T>G (p.Phe515Leu) c.1893T>G (p.Phe631Leu) c.2001T>G (p.Phe667Leu) c.1965T>G (p.Phe655Leu) c.1923T>G (p.Phe641Leu) c.1679+6164T>G (n.1679+6164T>G) c.2019T>G (p.Phe673Leu) c.2085T>G (p.Phe695Leu) c.2082T>G (p.Phe694Leu) c.2055T>G (p.Phe685Leu) c.1974T>G (p.Phe658Leu) c.1959T>G (p.Phe653Leu) c.1566T>G (p.Phe522Leu) c.2028T>G (p.Phe676Leu) c.1962T>G (p.Phe654Leu) c.1920T>G (p.Phe640Leu) c.993T>G (p.Phe331Leu) | |
20 | g.63407286A>G | CA9958181 | KCNQ2 | c.2031T>C (p.Phe677=) c.1977T>C (p.Phe659=) c.1374T>C (p.Phe458=) c.1884T>C (p.Phe628=) c.1545T>C (p.Phe515=) c.1893T>C (p.Phe631=) c.2001T>C (p.Phe667=) c.1965T>C (p.Phe655=) c.1923T>C (p.Phe641=) c.1679+6164T>C (n.1679+6164T>C) c.2019T>C (p.Phe673=) c.2085T>C (p.Phe695=) c.2082T>C (p.Phe694=) c.2055T>C (p.Phe685=) c.1974T>C (p.Phe658=) c.1959T>C (p.Phe653=) c.1566T>C (p.Phe522=) c.2028T>C (p.Phe676=) c.1962T>C (p.Phe654=) c.1920T>C (p.Phe640=) c.993T>C (p.Phe331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407286A>T | CA409639272 | KCNQ2 | c.2031T>A (p.Phe677Leu) c.1977T>A (p.Phe659Leu) c.1374T>A (p.Phe458Leu) c.1884T>A (p.Phe628Leu) c.1545T>A (p.Phe515Leu) c.1893T>A (p.Phe631Leu) c.2001T>A (p.Phe667Leu) c.1965T>A (p.Phe655Leu) c.1923T>A (p.Phe641Leu) c.1679+6164T>A (n.1679+6164T>A) c.2019T>A (p.Phe673Leu) c.2085T>A (p.Phe695Leu) c.2082T>A (p.Phe694Leu) c.2055T>A (p.Phe685Leu) c.1974T>A (p.Phe658Leu) c.1959T>A (p.Phe653Leu) c.1566T>A (p.Phe522Leu) c.2028T>A (p.Phe676Leu) c.1962T>A (p.Phe654Leu) c.1920T>A (p.Phe640Leu) c.993T>A (p.Phe331Leu) | |
20 | g.63407287A= | CA2374774527 | KCNQ2 | c.2030T= (p.Phe677=) c.1976T= (p.Phe659=) c.1373T= (p.Phe458=) c.1883T= (p.Phe628=) c.1544T= (p.Phe515=) c.1892T= (p.Phe631=) c.2000T= (p.Phe667=) c.1964T= (p.Phe655=) c.1922T= (p.Phe641=) c.1679+6163T= (n.1679+6163T=) c.2018T= (p.Phe673=) c.2084T= (p.Phe695=) c.2081T= (p.Phe694=) c.2054T= (p.Phe685=) c.1973T= (p.Phe658=) c.1958T= (p.Phe653=) c.1565T= (p.Phe522=) c.2027T= (p.Phe676=) c.1961T= (p.Phe654=) c.1919T= (p.Phe640=) c.992T= (p.Phe331=) | |
20 | g.63407287A>C | CA409639274 | KCNQ2 | c.2030T>G (p.Phe677Cys) c.1976T>G (p.Phe659Cys) c.1373T>G (p.Phe458Cys) c.1883T>G (p.Phe628Cys) c.1544T>G (p.Phe515Cys) c.1892T>G (p.Phe631Cys) c.2000T>G (p.Phe667Cys) c.1964T>G (p.Phe655Cys) c.1922T>G (p.Phe641Cys) c.1679+6163T>G (n.1679+6163T>G) c.2018T>G (p.Phe673Cys) c.2084T>G (p.Phe695Cys) c.2081T>G (p.Phe694Cys) c.2054T>G (p.Phe685Cys) c.1973T>G (p.Phe658Cys) c.1958T>G (p.Phe653Cys) c.1565T>G (p.Phe522Cys) c.2027T>G (p.Phe676Cys) c.1961T>G (p.Phe654Cys) c.1919T>G (p.Phe640Cys) c.992T>G (p.Phe331Cys) | |
20 | g.63407287A>G | CA9958182 | KCNQ2 | c.2030T>C (p.Phe677Ser) c.1976T>C (p.Phe659Ser) c.1373T>C (p.Phe458Ser) c.1883T>C (p.Phe628Ser) c.1544T>C (p.Phe515Ser) c.1892T>C (p.Phe631Ser) c.2000T>C (p.Phe667Ser) c.1964T>C (p.Phe655Ser) c.1922T>C (p.Phe641Ser) c.1679+6163T>C (n.1679+6163T>C) c.2018T>C (p.Phe673Ser) c.2084T>C (p.Phe695Ser) c.2081T>C (p.Phe694Ser) c.2054T>C (p.Phe685Ser) c.1973T>C (p.Phe658Ser) c.1958T>C (p.Phe653Ser) c.1565T>C (p.Phe522Ser) c.2027T>C (p.Phe676Ser) c.1961T>C (p.Phe654Ser) c.1919T>C (p.Phe640Ser) c.992T>C (p.Phe331Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407287A>T | CA409639277 | KCNQ2 | c.2030T>A (p.Phe677Tyr) c.1976T>A (p.Phe659Tyr) c.1373T>A (p.Phe458Tyr) c.1883T>A (p.Phe628Tyr) c.1544T>A (p.Phe515Tyr) c.1892T>A (p.Phe631Tyr) c.2000T>A (p.Phe667Tyr) c.1964T>A (p.Phe655Tyr) c.1922T>A (p.Phe641Tyr) c.1679+6163T>A (n.1679+6163T>A) c.2018T>A (p.Phe673Tyr) c.2084T>A (p.Phe695Tyr) c.2081T>A (p.Phe694Tyr) c.2054T>A (p.Phe685Tyr) c.1973T>A (p.Phe658Tyr) c.1958T>A (p.Phe653Tyr) c.1565T>A (p.Phe522Tyr) c.2027T>A (p.Phe676Tyr) c.1961T>A (p.Phe654Tyr) c.1919T>A (p.Phe640Tyr) c.992T>A (p.Phe331Tyr) | |
20 | g.63407288A>C | CA409639279 | KCNQ2 | c.2029T>G (p.Phe677Val) c.1975T>G (p.Phe659Val) c.1372T>G (p.Phe458Val) c.1882T>G (p.Phe628Val) c.1543T>G (p.Phe515Val) c.1891T>G (p.Phe631Val) c.1999T>G (p.Phe667Val) c.1963T>G (p.Phe655Val) c.1921T>G (p.Phe641Val) c.1679+6162T>G (n.1679+6162T>G) c.2017T>G (p.Phe673Val) c.2083T>G (p.Phe695Val) c.2080T>G (p.Phe694Val) c.2053T>G (p.Phe685Val) c.1972T>G (p.Phe658Val) c.1957T>G (p.Phe653Val) c.1564T>G (p.Phe522Val) c.2026T>G (p.Phe676Val) c.1960T>G (p.Phe654Val) c.1918T>G (p.Phe640Val) c.991T>G (p.Phe331Val) | |
20 | g.63407288A>G | CA409639281 | KCNQ2 | c.2029T>C (p.Phe677Leu) c.1975T>C (p.Phe659Leu) c.1372T>C (p.Phe458Leu) c.1882T>C (p.Phe628Leu) c.1543T>C (p.Phe515Leu) c.1891T>C (p.Phe631Leu) c.1999T>C (p.Phe667Leu) c.1963T>C (p.Phe655Leu) c.1921T>C (p.Phe641Leu) c.1679+6162T>C (n.1679+6162T>C) c.2017T>C (p.Phe673Leu) c.2083T>C (p.Phe695Leu) c.2080T>C (p.Phe694Leu) c.2053T>C (p.Phe685Leu) c.1972T>C (p.Phe658Leu) c.1957T>C (p.Phe653Leu) c.1564T>C (p.Phe522Leu) c.2026T>C (p.Phe676Leu) c.1960T>C (p.Phe654Leu) c.1918T>C (p.Phe640Leu) c.991T>C (p.Phe331Leu) | |
20 | g.63407288A>T | CA409639283 | KCNQ2 | c.2029T>A (p.Phe677Ile) c.1975T>A (p.Phe659Ile) c.1372T>A (p.Phe458Ile) c.1882T>A (p.Phe628Ile) c.1543T>A (p.Phe515Ile) c.1891T>A (p.Phe631Ile) c.1999T>A (p.Phe667Ile) c.1963T>A (p.Phe655Ile) c.1921T>A (p.Phe641Ile) c.1679+6162T>A (n.1679+6162T>A) c.2017T>A (p.Phe673Ile) c.2083T>A (p.Phe695Ile) c.2080T>A (p.Phe694Ile) c.2053T>A (p.Phe685Ile) c.1972T>A (p.Phe658Ile) c.1957T>A (p.Phe653Ile) c.1564T>A (p.Phe522Ile) c.2026T>A (p.Phe676Ile) c.1960T>A (p.Phe654Ile) c.1918T>A (p.Phe640Ile) c.991T>A (p.Phe331Ile) | |
20 | g.63407289G>A | CA511339548 | KCNQ2 | c.2028C>T (p.Tyr676=) c.1974C>T (p.Tyr658=) c.1371C>T (p.Tyr457=) c.1881C>T (p.Tyr627=) c.1542C>T (p.Tyr514=) c.1890C>T (p.Tyr630=) c.1998C>T (p.Tyr666=) c.1962C>T (p.Tyr654=) c.1920C>T (p.Tyr640=) c.1679+6161C>T (n.1679+6161C>T) c.2016C>T (p.Tyr672=) c.2082C>T (p.Tyr694=) c.2079C>T (p.Tyr693=) c.2052C>T (p.Tyr684=) c.1971C>T (p.Tyr657=) c.1956C>T (p.Tyr652=) c.1563C>T (p.Tyr521=) c.2025C>T (p.Tyr675=) c.1959C>T (p.Tyr653=) c.1917C>T (p.Tyr639=) c.990C>T (p.Tyr330=) | |
20 | g.63407289G>C | CA409639288 | KCNQ2 | c.2028C>G (p.Tyr676Ter) c.1974C>G (p.Tyr658Ter) c.1371C>G (p.Tyr457Ter) c.1881C>G (p.Tyr627Ter) c.1542C>G (p.Tyr514Ter) c.1890C>G (p.Tyr630Ter) c.1998C>G (p.Tyr666Ter) c.1962C>G (p.Tyr654Ter) c.1920C>G (p.Tyr640Ter) c.1679+6161C>G (n.1679+6161C>G) c.2016C>G (p.Tyr672Ter) c.2082C>G (p.Tyr694Ter) c.2079C>G (p.Tyr693Ter) c.2052C>G (p.Tyr684Ter) c.1971C>G (p.Tyr657Ter) c.1956C>G (p.Tyr652Ter) c.1563C>G (p.Tyr521Ter) c.2025C>G (p.Tyr675Ter) c.1959C>G (p.Tyr653Ter) c.1917C>G (p.Tyr639Ter) c.990C>G (p.Tyr330Ter) | |
20 | g.63407289G>T | CA409639286 | KCNQ2 | c.2028C>A (p.Tyr676Ter) c.1974C>A (p.Tyr658Ter) c.1371C>A (p.Tyr457Ter) c.1881C>A (p.Tyr627Ter) c.1542C>A (p.Tyr514Ter) c.1890C>A (p.Tyr630Ter) c.1998C>A (p.Tyr666Ter) c.1962C>A (p.Tyr654Ter) c.1920C>A (p.Tyr640Ter) c.1679+6161C>A (n.1679+6161C>A) c.2016C>A (p.Tyr672Ter) c.2082C>A (p.Tyr694Ter) c.2079C>A (p.Tyr693Ter) c.2052C>A (p.Tyr684Ter) c.1971C>A (p.Tyr657Ter) c.1956C>A (p.Tyr652Ter) c.1563C>A (p.Tyr521Ter) c.2025C>A (p.Tyr675Ter) c.1959C>A (p.Tyr653Ter) c.1917C>A (p.Tyr639Ter) c.990C>A (p.Tyr330Ter) | |
20 | g.63407290T>A | CA409639290 | KCNQ2 | c.2027A>T (p.Tyr676Phe) c.1973A>T (p.Tyr658Phe) c.1370A>T (p.Tyr457Phe) c.1880A>T (p.Tyr627Phe) c.1541A>T (p.Tyr514Phe) c.1889A>T (p.Tyr630Phe) c.1997A>T (p.Tyr666Phe) c.1961A>T (p.Tyr654Phe) c.1919A>T (p.Tyr640Phe) c.1679+6160A>T (n.1679+6160A>T) c.2015A>T (p.Tyr672Phe) c.2081A>T (p.Tyr694Phe) c.2078A>T (p.Tyr693Phe) c.2051A>T (p.Tyr684Phe) c.1970A>T (p.Tyr657Phe) c.1955A>T (p.Tyr652Phe) c.1562A>T (p.Tyr521Phe) c.2024A>T (p.Tyr675Phe) c.1958A>T (p.Tyr653Phe) c.1916A>T (p.Tyr639Phe) c.989A>T (p.Tyr330Phe) | |
20 | g.63407290T>C | CA9958183 | KCNQ2 | c.2027A>G (p.Tyr676Cys) c.1973A>G (p.Tyr658Cys) c.1370A>G (p.Tyr457Cys) c.1880A>G (p.Tyr627Cys) c.1541A>G (p.Tyr514Cys) c.1889A>G (p.Tyr630Cys) c.1997A>G (p.Tyr666Cys) c.1961A>G (p.Tyr654Cys) c.1919A>G (p.Tyr640Cys) c.1679+6160A>G (n.1679+6160A>G) c.2015A>G (p.Tyr672Cys) c.2081A>G (p.Tyr694Cys) c.2078A>G (p.Tyr693Cys) c.2051A>G (p.Tyr684Cys) c.1970A>G (p.Tyr657Cys) c.1955A>G (p.Tyr652Cys) c.1562A>G (p.Tyr521Cys) c.2024A>G (p.Tyr675Cys) c.1958A>G (p.Tyr653Cys) c.1916A>G (p.Tyr639Cys) c.989A>G (p.Tyr330Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407290T>G | CA409639293 | KCNQ2 | c.2027A>C (p.Tyr676Ser) c.1973A>C (p.Tyr658Ser) c.1370A>C (p.Tyr457Ser) c.1880A>C (p.Tyr627Ser) c.1541A>C (p.Tyr514Ser) c.1889A>C (p.Tyr630Ser) c.1997A>C (p.Tyr666Ser) c.1961A>C (p.Tyr654Ser) c.1919A>C (p.Tyr640Ser) c.1679+6160A>C (n.1679+6160A>C) c.2015A>C (p.Tyr672Ser) c.2081A>C (p.Tyr694Ser) c.2078A>C (p.Tyr693Ser) c.2051A>C (p.Tyr684Ser) c.1970A>C (p.Tyr657Ser) c.1955A>C (p.Tyr652Ser) c.1562A>C (p.Tyr521Ser) c.2024A>C (p.Tyr675Ser) c.1958A>C (p.Tyr653Ser) c.1916A>C (p.Tyr639Ser) c.989A>C (p.Tyr330Ser) | |
20 | g.63407290T= | CA2374774528 | KCNQ2 | c.2027A= (p.Tyr676=) c.1973A= (p.Tyr658=) c.1370A= (p.Tyr457=) c.1880A= (p.Tyr627=) c.1541A= (p.Tyr514=) c.1889A= (p.Tyr630=) c.1997A= (p.Tyr666=) c.1961A= (p.Tyr654=) c.1919A= (p.Tyr640=) c.1679+6160A= (n.1679+6160A=) c.2015A= (p.Tyr672=) c.2081A= (p.Tyr694=) c.2078A= (p.Tyr693=) c.2051A= (p.Tyr684=) c.1970A= (p.Tyr657=) c.1955A= (p.Tyr652=) c.1562A= (p.Tyr521=) c.2024A= (p.Tyr675=) c.1958A= (p.Tyr653=) c.1916A= (p.Tyr639=) c.989A= (p.Tyr330=) | |
20 | g.63407291A= | CA2374774529 | KCNQ2 | c.2026T= (p.Tyr676=) c.1972T= (p.Tyr658=) c.1369T= (p.Tyr457=) c.1879T= (p.Tyr627=) c.1540T= (p.Tyr514=) c.1888T= (p.Tyr630=) c.1996T= (p.Tyr666=) c.1960T= (p.Tyr654=) c.1918T= (p.Tyr640=) c.1679+6159T= (n.1679+6159T=) c.2014T= (p.Tyr672=) c.2080T= (p.Tyr694=) c.2077T= (p.Tyr693=) c.2050T= (p.Tyr684=) c.1969T= (p.Tyr657=) c.1954T= (p.Tyr652=) c.1561T= (p.Tyr521=) c.2023T= (p.Tyr675=) c.1957T= (p.Tyr653=) c.1915T= (p.Tyr639=) c.988T= (p.Tyr330=) | |
20 | g.63407291A>C | CA409639296 | KCNQ2 | c.2026T>G (p.Tyr676Asp) c.1972T>G (p.Tyr658Asp) c.1369T>G (p.Tyr457Asp) c.1879T>G (p.Tyr627Asp) c.1540T>G (p.Tyr514Asp) c.1888T>G (p.Tyr630Asp) c.1996T>G (p.Tyr666Asp) c.1960T>G (p.Tyr654Asp) c.1918T>G (p.Tyr640Asp) c.1679+6159T>G (n.1679+6159T>G) c.2014T>G (p.Tyr672Asp) c.2080T>G (p.Tyr694Asp) c.2077T>G (p.Tyr693Asp) c.2050T>G (p.Tyr684Asp) c.1969T>G (p.Tyr657Asp) c.1954T>G (p.Tyr652Asp) c.1561T>G (p.Tyr521Asp) c.2023T>G (p.Tyr675Asp) c.1957T>G (p.Tyr653Asp) c.1915T>G (p.Tyr639Asp) c.988T>G (p.Tyr330Asp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407291A>G | CA409639301 | KCNQ2 | c.2026T>C (p.Tyr676His) c.1972T>C (p.Tyr658His) c.1369T>C (p.Tyr457His) c.1879T>C (p.Tyr627His) c.1540T>C (p.Tyr514His) c.1888T>C (p.Tyr630His) c.1996T>C (p.Tyr666His) c.1960T>C (p.Tyr654His) c.1918T>C (p.Tyr640His) c.1679+6159T>C (n.1679+6159T>C) c.2014T>C (p.Tyr672His) c.2080T>C (p.Tyr694His) c.2077T>C (p.Tyr693His) c.2050T>C (p.Tyr684His) c.1969T>C (p.Tyr657His) c.1954T>C (p.Tyr652His) c.1561T>C (p.Tyr521His) c.2023T>C (p.Tyr675His) c.1957T>C (p.Tyr653His) c.1915T>C (p.Tyr639His) c.988T>C (p.Tyr330His) | gnomAD v4 |
20 | g.63407291A>T | CA409639303 | KCNQ2 | c.2026T>A (p.Tyr676Asn) c.1972T>A (p.Tyr658Asn) c.1369T>A (p.Tyr457Asn) c.1879T>A (p.Tyr627Asn) c.1540T>A (p.Tyr514Asn) c.1888T>A (p.Tyr630Asn) c.1996T>A (p.Tyr666Asn) c.1960T>A (p.Tyr654Asn) c.1918T>A (p.Tyr640Asn) c.1679+6159T>A (n.1679+6159T>A) c.2014T>A (p.Tyr672Asn) c.2080T>A (p.Tyr694Asn) c.2077T>A (p.Tyr693Asn) c.2050T>A (p.Tyr684Asn) c.1969T>A (p.Tyr657Asn) c.1954T>A (p.Tyr652Asn) c.1561T>A (p.Tyr521Asn) c.2023T>A (p.Tyr675Asn) c.1957T>A (p.Tyr653Asn) c.1915T>A (p.Tyr639Asn) c.988T>A (p.Tyr330Asn) | |
20 | g.63407292G>A | CA511339551 | KCNQ2 | c.2025C>T (p.Ala675=) c.1971C>T (p.Ala657=) c.1368C>T (p.Ala456=) c.1878C>T (p.Ala626=) c.1539C>T (p.Ala513=) c.1887C>T (p.Ala629=) c.1995C>T (p.Ala665=) c.1959C>T (p.Ala653=) c.1917C>T (p.Ala639=) c.1679+6158C>T (n.1679+6158C>T) c.2013C>T (p.Ala671=) c.2079C>T (p.Ala693=) c.2076C>T (p.Ala692=) c.2049C>T (p.Ala683=) c.1968C>T (p.Ala656=) c.1953C>T (p.Ala651=) c.1560C>T (p.Ala520=) c.2022C>T (p.Ala674=) c.1956C>T (p.Ala652=) c.1914C>T (p.Ala638=) c.987C>T (p.Ala329=) | |
20 | g.63407292G>C | CA511339549 | KCNQ2 | c.2025C>G (p.Ala675=) c.1971C>G (p.Ala657=) c.1368C>G (p.Ala456=) c.1878C>G (p.Ala626=) c.1539C>G (p.Ala513=) c.1887C>G (p.Ala629=) c.1995C>G (p.Ala665=) c.1959C>G (p.Ala653=) c.1917C>G (p.Ala639=) c.1679+6158C>G (n.1679+6158C>G) c.2013C>G (p.Ala671=) c.2079C>G (p.Ala693=) c.2076C>G (p.Ala692=) c.2049C>G (p.Ala683=) c.1968C>G (p.Ala656=) c.1953C>G (p.Ala651=) c.1560C>G (p.Ala520=) c.2022C>G (p.Ala674=) c.1956C>G (p.Ala652=) c.1914C>G (p.Ala638=) c.987C>G (p.Ala329=) | |
20 | g.63407292G>T | CA511339550 | KCNQ2 | c.2025C>A (p.Ala675=) c.1971C>A (p.Ala657=) c.1368C>A (p.Ala456=) c.1878C>A (p.Ala626=) c.1539C>A (p.Ala513=) c.1887C>A (p.Ala629=) c.1995C>A (p.Ala665=) c.1959C>A (p.Ala653=) c.1917C>A (p.Ala639=) c.1679+6158C>A (n.1679+6158C>A) c.2013C>A (p.Ala671=) c.2079C>A (p.Ala693=) c.2076C>A (p.Ala692=) c.2049C>A (p.Ala683=) c.1968C>A (p.Ala656=) c.1953C>A (p.Ala651=) c.1560C>A (p.Ala520=) c.2022C>A (p.Ala674=) c.1956C>A (p.Ala652=) c.1914C>A (p.Ala638=) c.987C>A (p.Ala329=) | |
20 | g.63407293G>A | CA409639309 | KCNQ2 | c.2024C>T (p.Ala675Val) c.1970C>T (p.Ala657Val) c.1367C>T (p.Ala456Val) c.1877C>T (p.Ala626Val) c.1538C>T (p.Ala513Val) c.1886C>T (p.Ala629Val) c.1994C>T (p.Ala665Val) c.1958C>T (p.Ala653Val) c.1916C>T (p.Ala639Val) c.1679+6157C>T (n.1679+6157C>T) c.2012C>T (p.Ala671Val) c.2078C>T (p.Ala693Val) c.2075C>T (p.Ala692Val) c.2048C>T (p.Ala683Val) c.1967C>T (p.Ala656Val) c.1952C>T (p.Ala651Val) c.1559C>T (p.Ala520Val) c.2021C>T (p.Ala674Val) c.1955C>T (p.Ala652Val) c.1913C>T (p.Ala638Val) c.986C>T (p.Ala329Val) | |
20 | g.63407293G>C | CA409639306 | KCNQ2 | c.2024C>G (p.Ala675Gly) c.1970C>G (p.Ala657Gly) c.1367C>G (p.Ala456Gly) c.1877C>G (p.Ala626Gly) c.1538C>G (p.Ala513Gly) c.1886C>G (p.Ala629Gly) c.1994C>G (p.Ala665Gly) c.1958C>G (p.Ala653Gly) c.1916C>G (p.Ala639Gly) c.1679+6157C>G (n.1679+6157C>G) c.2012C>G (p.Ala671Gly) c.2078C>G (p.Ala693Gly) c.2075C>G (p.Ala692Gly) c.2048C>G (p.Ala683Gly) c.1967C>G (p.Ala656Gly) c.1952C>G (p.Ala651Gly) c.1559C>G (p.Ala520Gly) c.2021C>G (p.Ala674Gly) c.1955C>G (p.Ala652Gly) c.1913C>G (p.Ala638Gly) c.986C>G (p.Ala329Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407293G>T | CA409639308 | KCNQ2 | c.2024C>A (p.Ala675Asp) c.1970C>A (p.Ala657Asp) c.1367C>A (p.Ala456Asp) c.1877C>A (p.Ala626Asp) c.1538C>A (p.Ala513Asp) c.1886C>A (p.Ala629Asp) c.1994C>A (p.Ala665Asp) c.1958C>A (p.Ala653Asp) c.1916C>A (p.Ala639Asp) c.1679+6157C>A (n.1679+6157C>A) c.2012C>A (p.Ala671Asp) c.2078C>A (p.Ala693Asp) c.2075C>A (p.Ala692Asp) c.2048C>A (p.Ala683Asp) c.1967C>A (p.Ala656Asp) c.1952C>A (p.Ala651Asp) c.1559C>A (p.Ala520Asp) c.2021C>A (p.Ala674Asp) c.1955C>A (p.Ala652Asp) c.1913C>A (p.Ala638Asp) c.986C>A (p.Ala329Asp) | |
20 | g.63407294C>A | CA409639313 | KCNQ2 | c.2023G>T (p.Ala675Ser) c.1969G>T (p.Ala657Ser) c.1366G>T (p.Ala456Ser) c.1876G>T (p.Ala626Ser) c.1537G>T (p.Ala513Ser) c.1885G>T (p.Ala629Ser) c.1993G>T (p.Ala665Ser) c.1957G>T (p.Ala653Ser) c.1915G>T (p.Ala639Ser) c.1679+6156G>T (n.1679+6156G>T) c.2011G>T (p.Ala671Ser) c.2077G>T (p.Ala693Ser) c.2074G>T (p.Ala692Ser) c.2047G>T (p.Ala683Ser) c.1966G>T (p.Ala656Ser) c.1951G>T (p.Ala651Ser) c.1558G>T (p.Ala520Ser) c.2020G>T (p.Ala674Ser) c.1954G>T (p.Ala652Ser) c.1912G>T (p.Ala638Ser) c.985G>T (p.Ala329Ser) | |
20 | g.63407294C= | CA2374774530 | KCNQ2 | c.2023G= (p.Ala675=) c.1969G= (p.Ala657=) c.1366G= (p.Ala456=) c.1876G= (p.Ala626=) c.1537G= (p.Ala513=) c.1885G= (p.Ala629=) c.1993G= (p.Ala665=) c.1957G= (p.Ala653=) c.1915G= (p.Ala639=) c.1679+6156G= (n.1679+6156G=) c.2011G= (p.Ala671=) c.2077G= (p.Ala693=) c.2074G= (p.Ala692=) c.2047G= (p.Ala683=) c.1966G= (p.Ala656=) c.1951G= (p.Ala651=) c.1558G= (p.Ala520=) c.2020G= (p.Ala674=) c.1954G= (p.Ala652=) c.1912G= (p.Ala638=) c.985G= (p.Ala329=) | |
20 | g.63407294C>G | CA409639314 | KCNQ2 | c.2023G>C (p.Ala675Pro) c.1969G>C (p.Ala657Pro) c.1366G>C (p.Ala456Pro) c.1876G>C (p.Ala626Pro) c.1537G>C (p.Ala513Pro) c.1885G>C (p.Ala629Pro) c.1993G>C (p.Ala665Pro) c.1957G>C (p.Ala653Pro) c.1915G>C (p.Ala639Pro) c.1679+6156G>C (n.1679+6156G>C) c.2011G>C (p.Ala671Pro) c.2077G>C (p.Ala693Pro) c.2074G>C (p.Ala692Pro) c.2047G>C (p.Ala683Pro) c.1966G>C (p.Ala656Pro) c.1951G>C (p.Ala651Pro) c.1558G>C (p.Ala520Pro) c.2020G>C (p.Ala674Pro) c.1954G>C (p.Ala652Pro) c.1912G>C (p.Ala638Pro) c.985G>C (p.Ala329Pro) | |
20 | g.63407294C>T | CA9958184 | KCNQ2 | c.2023G>A (p.Ala675Thr) c.1969G>A (p.Ala657Thr) c.1366G>A (p.Ala456Thr) c.1876G>A (p.Ala626Thr) c.1537G>A (p.Ala513Thr) c.1885G>A (p.Ala629Thr) c.1993G>A (p.Ala665Thr) c.1957G>A (p.Ala653Thr) c.1915G>A (p.Ala639Thr) c.1679+6156G>A (n.1679+6156G>A) c.2011G>A (p.Ala671Thr) c.2077G>A (p.Ala693Thr) c.2074G>A (p.Ala692Thr) c.2047G>A (p.Ala683Thr) c.1966G>A (p.Ala656Thr) c.1951G>A (p.Ala651Thr) c.1558G>A (p.Ala520Thr) c.2020G>A (p.Ala674Thr) c.1954G>A (p.Ala652Thr) c.1912G>A (p.Ala638Thr) c.985G>A (p.Ala329Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407295C>A | CA409639315 | KCNQ2 | c.2022G>T (p.Glu674Asp) c.1968G>T (p.Glu656Asp) c.1365G>T (p.Glu455Asp) c.1875G>T (p.Glu625Asp) c.1536G>T (p.Glu512Asp) c.1884G>T (p.Glu628Asp) c.1992G>T (p.Glu664Asp) c.1956G>T (p.Glu652Asp) c.1914G>T (p.Glu638Asp) c.1679+6155G>T (n.1679+6155G>T) c.2010G>T (p.Glu670Asp) c.2076G>T (p.Glu692Asp) c.2073G>T (p.Glu691Asp) c.2046G>T (p.Glu682Asp) c.1965G>T (p.Glu655Asp) c.1950G>T (p.Glu650Asp) c.1557G>T (p.Glu519Asp) c.2019G>T (p.Glu673Asp) c.1953G>T (p.Glu651Asp) c.1911G>T (p.Glu637Asp) c.984G>T (p.Glu328Asp) | |
20 | g.63407295C= | CA2374774531 | KCNQ2 | c.2022G= (p.Glu674=) c.1968G= (p.Glu656=) c.1365G= (p.Glu455=) c.1875G= (p.Glu625=) c.1536G= (p.Glu512=) c.1884G= (p.Glu628=) c.1992G= (p.Glu664=) c.1956G= (p.Glu652=) c.1914G= (p.Glu638=) c.1679+6155G= (n.1679+6155G=) c.2010G= (p.Glu670=) c.2076G= (p.Glu692=) c.2073G= (p.Glu691=) c.2046G= (p.Glu682=) c.1965G= (p.Glu655=) c.1950G= (p.Glu650=) c.1557G= (p.Glu519=) c.2019G= (p.Glu673=) c.1953G= (p.Glu651=) c.1911G= (p.Glu637=) c.984G= (p.Glu328=) | |
20 | g.63407295C>G | CA409639316 | KCNQ2 | c.2022G>C (p.Glu674Asp) c.1968G>C (p.Glu656Asp) c.1365G>C (p.Glu455Asp) c.1875G>C (p.Glu625Asp) c.1536G>C (p.Glu512Asp) c.1884G>C (p.Glu628Asp) c.1992G>C (p.Glu664Asp) c.1956G>C (p.Glu652Asp) c.1914G>C (p.Glu638Asp) c.1679+6155G>C (n.1679+6155G>C) c.2010G>C (p.Glu670Asp) c.2076G>C (p.Glu692Asp) c.2073G>C (p.Glu691Asp) c.2046G>C (p.Glu682Asp) c.1965G>C (p.Glu655Asp) c.1950G>C (p.Glu650Asp) c.1557G>C (p.Glu519Asp) c.2019G>C (p.Glu673Asp) c.1953G>C (p.Glu651Asp) c.1911G>C (p.Glu637Asp) c.984G>C (p.Glu328Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407295C>T | CA511339552 | KCNQ2 | c.2022G>A (p.Glu674=) c.1968G>A (p.Glu656=) c.1365G>A (p.Glu455=) c.1875G>A (p.Glu625=) c.1536G>A (p.Glu512=) c.1884G>A (p.Glu628=) c.1992G>A (p.Glu664=) c.1956G>A (p.Glu652=) c.1914G>A (p.Glu638=) c.1679+6155G>A (n.1679+6155G>A) c.2010G>A (p.Glu670=) c.2076G>A (p.Glu692=) c.2073G>A (p.Glu691=) c.2046G>A (p.Glu682=) c.1965G>A (p.Glu655=) c.1950G>A (p.Glu650=) c.1557G>A (p.Glu519=) c.2019G>A (p.Glu673=) c.1953G>A (p.Glu651=) c.1911G>A (p.Glu637=) c.984G>A (p.Glu328=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407296T>A | CA409639317 | KCNQ2 | c.2021A>T (p.Glu674Val) c.1967A>T (p.Glu656Val) c.1364A>T (p.Glu455Val) c.1874A>T (p.Glu625Val) c.1535A>T (p.Glu512Val) c.1883A>T (p.Glu628Val) c.1991A>T (p.Glu664Val) c.1955A>T (p.Glu652Val) c.1913A>T (p.Glu638Val) c.1679+6154A>T (n.1679+6154A>T) c.2009A>T (p.Glu670Val) c.2075A>T (p.Glu692Val) c.2072A>T (p.Glu691Val) c.2045A>T (p.Glu682Val) c.1964A>T (p.Glu655Val) c.1949A>T (p.Glu650Val) c.1556A>T (p.Glu519Val) c.2018A>T (p.Glu673Val) c.1952A>T (p.Glu651Val) c.1910A>T (p.Glu637Val) c.983A>T (p.Glu328Val) | |
20 | g.63407296T>C | CA409639318 | KCNQ2 | c.2021A>G (p.Glu674Gly) c.1967A>G (p.Glu656Gly) c.1364A>G (p.Glu455Gly) c.1874A>G (p.Glu625Gly) c.1535A>G (p.Glu512Gly) c.1883A>G (p.Glu628Gly) c.1991A>G (p.Glu664Gly) c.1955A>G (p.Glu652Gly) c.1913A>G (p.Glu638Gly) c.1679+6154A>G (n.1679+6154A>G) c.2009A>G (p.Glu670Gly) c.2075A>G (p.Glu692Gly) c.2072A>G (p.Glu691Gly) c.2045A>G (p.Glu682Gly) c.1964A>G (p.Glu655Gly) c.1949A>G (p.Glu650Gly) c.1556A>G (p.Glu519Gly) c.2018A>G (p.Glu673Gly) c.1952A>G (p.Glu651Gly) c.1910A>G (p.Glu637Gly) c.983A>G (p.Glu328Gly) | dbSNP |
20 | g.63407296T>G | CA409639319 | KCNQ2 | c.2021A>C (p.Glu674Ala) c.1967A>C (p.Glu656Ala) c.1364A>C (p.Glu455Ala) c.1874A>C (p.Glu625Ala) c.1535A>C (p.Glu512Ala) c.1883A>C (p.Glu628Ala) c.1991A>C (p.Glu664Ala) c.1955A>C (p.Glu652Ala) c.1913A>C (p.Glu638Ala) c.1679+6154A>C (n.1679+6154A>C) c.2009A>C (p.Glu670Ala) c.2075A>C (p.Glu692Ala) c.2072A>C (p.Glu691Ala) c.2045A>C (p.Glu682Ala) c.1964A>C (p.Glu655Ala) c.1949A>C (p.Glu650Ala) c.1556A>C (p.Glu519Ala) c.2018A>C (p.Glu673Ala) c.1952A>C (p.Glu651Ala) c.1910A>C (p.Glu637Ala) c.983A>C (p.Glu328Ala) | |
20 | g.63407296T= | CA2374774532 | KCNQ2 | c.2021A= (p.Glu674=) c.1967A= (p.Glu656=) c.1364A= (p.Glu455=) c.1874A= (p.Glu625=) c.1535A= (p.Glu512=) c.1883A= (p.Glu628=) c.1991A= (p.Glu664=) c.1955A= (p.Glu652=) c.1913A= (p.Glu638=) c.1679+6154A= (n.1679+6154A=) c.2009A= (p.Glu670=) c.2075A= (p.Glu692=) c.2072A= (p.Glu691=) c.2045A= (p.Glu682=) c.1964A= (p.Glu655=) c.1949A= (p.Glu650=) c.1556A= (p.Glu519=) c.2018A= (p.Glu673=) c.1952A= (p.Glu651=) c.1910A= (p.Glu637=) c.983A= (p.Glu328=) | |
20 | g.63407297del | CA2499225802 | KCNQ2 | c.2020del (p.Glu674ArgfsTer?) c.1966del (p.Glu656ArgfsTer?) c.1363del (p.Glu455ArgfsTer?) c.1873del (p.Glu625ArgfsTer?) c.1534del (p.Glu512ArgfsTer?) c.1882del (p.Glu628ArgfsTer?) c.1990del (p.Glu664ArgfsTer?) c.1954del (p.Glu652ArgfsTer?) c.1912del (p.Glu638ArgfsTer?) c.1679+6153del (n.1679+6153del) c.2008del (p.Glu670ArgfsTer?) c.2074del (p.Glu692ArgfsTer?) c.2071del (p.Glu691ArgfsTer?) c.2044del (p.Glu682ArgfsTer?) c.1963del (p.Glu655ArgfsTer?) c.1948del (p.Glu650ArgfsTer?) c.1555del (p.Glu519ArgfsTer?) c.2017del (p.Glu673ArgfsTer?) c.1951del (p.Glu651ArgfsTer?) c.1909del (p.Glu637ArgfsTer?) c.982del (p.Glu328ArgfsTer?) | ClinVar dbSNP |
20 | g.63407297C>A | CA409639320 | KCNQ2 | c.2020G>T (p.Glu674Ter) c.1966G>T (p.Glu656Ter) c.1363G>T (p.Glu455Ter) c.1873G>T (p.Glu625Ter) c.1534G>T (p.Glu512Ter) c.1882G>T (p.Glu628Ter) c.1990G>T (p.Glu664Ter) c.1954G>T (p.Glu652Ter) c.1912G>T (p.Glu638Ter) c.1679+6153G>T (n.1679+6153G>T) c.2008G>T (p.Glu670Ter) c.2074G>T (p.Glu692Ter) c.2071G>T (p.Glu691Ter) c.2044G>T (p.Glu682Ter) c.1963G>T (p.Glu655Ter) c.1948G>T (p.Glu650Ter) c.1555G>T (p.Glu519Ter) c.2017G>T (p.Glu673Ter) c.1951G>T (p.Glu651Ter) c.1909G>T (p.Glu637Ter) c.982G>T (p.Glu328Ter) | gnomAD v4 |
20 | g.63407297C= | CA2374774533 | KCNQ2 | c.2020G= (p.Glu674=) c.1966G= (p.Glu656=) c.1363G= (p.Glu455=) c.1873G= (p.Glu625=) c.1534G= (p.Glu512=) c.1882G= (p.Glu628=) c.1990G= (p.Glu664=) c.1954G= (p.Glu652=) c.1912G= (p.Glu638=) c.1679+6153G= (n.1679+6153G=) c.2008G= (p.Glu670=) c.2074G= (p.Glu692=) c.2071G= (p.Glu691=) c.2044G= (p.Glu682=) c.1963G= (p.Glu655=) c.1948G= (p.Glu650=) c.1555G= (p.Glu519=) c.2017G= (p.Glu673=) c.1951G= (p.Glu651=) c.1909G= (p.Glu637=) c.982G= (p.Glu328=) | |
20 | g.63407297C>G | CA409639321 | KCNQ2 | c.2020G>C (p.Glu674Gln) c.1966G>C (p.Glu656Gln) c.1363G>C (p.Glu455Gln) c.1873G>C (p.Glu625Gln) c.1534G>C (p.Glu512Gln) c.1882G>C (p.Glu628Gln) c.1990G>C (p.Glu664Gln) c.1954G>C (p.Glu652Gln) c.1912G>C (p.Glu638Gln) c.1679+6153G>C (n.1679+6153G>C) c.2008G>C (p.Glu670Gln) c.2074G>C (p.Glu692Gln) c.2071G>C (p.Glu691Gln) c.2044G>C (p.Glu682Gln) c.1963G>C (p.Glu655Gln) c.1948G>C (p.Glu650Gln) c.1555G>C (p.Glu519Gln) c.2017G>C (p.Glu673Gln) c.1951G>C (p.Glu651Gln) c.1909G>C (p.Glu637Gln) c.982G>C (p.Glu328Gln) | |
20 | g.63407297C>T | CA9958185 | KCNQ2 | c.2020G>A (p.Glu674Lys) c.1966G>A (p.Glu656Lys) c.1363G>A (p.Glu455Lys) c.1873G>A (p.Glu625Lys) c.1534G>A (p.Glu512Lys) c.1882G>A (p.Glu628Lys) c.1990G>A (p.Glu664Lys) c.1954G>A (p.Glu652Lys) c.1912G>A (p.Glu638Lys) c.1679+6153G>A (n.1679+6153G>A) c.2008G>A (p.Glu670Lys) c.2074G>A (p.Glu692Lys) c.2071G>A (p.Glu691Lys) c.2044G>A (p.Glu682Lys) c.1963G>A (p.Glu655Lys) c.1948G>A (p.Glu650Lys) c.1555G>A (p.Glu519Lys) c.2017G>A (p.Glu673Lys) c.1951G>A (p.Glu651Lys) c.1909G>A (p.Glu637Lys) c.982G>A (p.Glu328Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407298G>A | CA9958186 | KCNQ2 | c.2019C>T (p.Thr673=) c.1965C>T (p.Thr655=) c.1362C>T (p.Thr454=) c.1872C>T (p.Thr624=) c.1533C>T (p.Thr511=) c.1881C>T (p.Thr627=) c.1989C>T (p.Thr663=) c.1953C>T (p.Thr651=) c.1911C>T (p.Thr637=) c.1679+6152C>T (n.1679+6152C>T) c.2007C>T (p.Thr669=) c.2073C>T (p.Thr691=) c.2070C>T (p.Thr690=) c.2043C>T (p.Thr681=) c.1962C>T (p.Thr654=) c.1947C>T (p.Thr649=) c.1554C>T (p.Thr518=) c.2016C>T (p.Thr672=) c.1950C>T (p.Thr650=) c.1908C>T (p.Thr636=) c.981C>T (p.Thr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63407298G>C | CA511339553 | KCNQ2 | c.2019C>G (p.Thr673=) c.1965C>G (p.Thr655=) c.1362C>G (p.Thr454=) c.1872C>G (p.Thr624=) c.1533C>G (p.Thr511=) c.1881C>G (p.Thr627=) c.1989C>G (p.Thr663=) c.1953C>G (p.Thr651=) c.1911C>G (p.Thr637=) c.1679+6152C>G (n.1679+6152C>G) c.2007C>G (p.Thr669=) c.2073C>G (p.Thr691=) c.2070C>G (p.Thr690=) c.2043C>G (p.Thr681=) c.1962C>G (p.Thr654=) c.1947C>G (p.Thr649=) c.1554C>G (p.Thr518=) c.2016C>G (p.Thr672=) c.1950C>G (p.Thr650=) c.1908C>G (p.Thr636=) c.981C>G (p.Thr327=) | dbSNP |
20 | g.63407298G= | CA2374774534 | KCNQ2 | c.2019C= (p.Thr673=) c.1965C= (p.Thr655=) c.1362C= (p.Thr454=) c.1872C= (p.Thr624=) c.1533C= (p.Thr511=) c.1881C= (p.Thr627=) c.1989C= (p.Thr663=) c.1953C= (p.Thr651=) c.1911C= (p.Thr637=) c.1679+6152C= (n.1679+6152C=) c.2007C= (p.Thr669=) c.2073C= (p.Thr691=) c.2070C= (p.Thr690=) c.2043C= (p.Thr681=) c.1962C= (p.Thr654=) c.1947C= (p.Thr649=) c.1554C= (p.Thr518=) c.2016C= (p.Thr672=) c.1950C= (p.Thr650=) c.1908C= (p.Thr636=) c.981C= (p.Thr327=) | |
20 | g.63407298G>T | CA511339554 | KCNQ2 | c.2019C>A (p.Thr673=) c.1965C>A (p.Thr655=) c.1362C>A (p.Thr454=) c.1872C>A (p.Thr624=) c.1533C>A (p.Thr511=) c.1881C>A (p.Thr627=) c.1989C>A (p.Thr663=) c.1953C>A (p.Thr651=) c.1911C>A (p.Thr637=) c.1679+6152C>A (n.1679+6152C>A) c.2007C>A (p.Thr669=) c.2073C>A (p.Thr691=) c.2070C>A (p.Thr690=) c.2043C>A (p.Thr681=) c.1962C>A (p.Thr654=) c.1947C>A (p.Thr649=) c.1554C>A (p.Thr518=) c.2016C>A (p.Thr672=) c.1950C>A (p.Thr650=) c.1908C>A (p.Thr636=) c.981C>A (p.Thr327=) | |
20 | g.63407299G>A | CA409639322 | KCNQ2 | c.2018C>T (p.Thr673Ile) c.1964C>T (p.Thr655Ile) c.1361C>T (p.Thr454Ile) c.1871C>T (p.Thr624Ile) c.1532C>T (p.Thr511Ile) c.1880C>T (p.Thr627Ile) c.1988C>T (p.Thr663Ile) c.1952C>T (p.Thr651Ile) c.1910C>T (p.Thr637Ile) c.1679+6151C>T (n.1679+6151C>T) c.2006C>T (p.Thr669Ile) c.2072C>T (p.Thr691Ile) c.2069C>T (p.Thr690Ile) c.2042C>T (p.Thr681Ile) c.1961C>T (p.Thr654Ile) c.1946C>T (p.Thr649Ile) c.1553C>T (p.Thr518Ile) c.2015C>T (p.Thr672Ile) c.1949C>T (p.Thr650Ile) c.1907C>T (p.Thr636Ile) c.980C>T (p.Thr327Ile) | dbSNP |
20 | g.63407299G>C | CA409639324 | KCNQ2 | c.2018C>G (p.Thr673Ser) c.1964C>G (p.Thr655Ser) c.1361C>G (p.Thr454Ser) c.1871C>G (p.Thr624Ser) c.1532C>G (p.Thr511Ser) c.1880C>G (p.Thr627Ser) c.1988C>G (p.Thr663Ser) c.1952C>G (p.Thr651Ser) c.1910C>G (p.Thr637Ser) c.1679+6151C>G (n.1679+6151C>G) c.2006C>G (p.Thr669Ser) c.2072C>G (p.Thr691Ser) c.2069C>G (p.Thr690Ser) c.2042C>G (p.Thr681Ser) c.1961C>G (p.Thr654Ser) c.1946C>G (p.Thr649Ser) c.1553C>G (p.Thr518Ser) c.2015C>G (p.Thr672Ser) c.1949C>G (p.Thr650Ser) c.1907C>G (p.Thr636Ser) c.980C>G (p.Thr327Ser) | |
20 | g.63407299G= | CA2374774535 | KCNQ2 | c.2018C= (p.Thr673=) c.1964C= (p.Thr655=) c.1361C= (p.Thr454=) c.1871C= (p.Thr624=) c.1532C= (p.Thr511=) c.1880C= (p.Thr627=) c.1988C= (p.Thr663=) c.1952C= (p.Thr651=) c.1910C= (p.Thr637=) c.1679+6151C= (n.1679+6151C=) c.2006C= (p.Thr669=) c.2072C= (p.Thr691=) c.2069C= (p.Thr690=) c.2042C= (p.Thr681=) c.1961C= (p.Thr654=) c.1946C= (p.Thr649=) c.1553C= (p.Thr518=) c.2015C= (p.Thr672=) c.1949C= (p.Thr650=) c.1907C= (p.Thr636=) c.980C= (p.Thr327=) | |
20 | g.63407299G>T | CA409639323 | KCNQ2 | c.2018C>A (p.Thr673Asn) c.1964C>A (p.Thr655Asn) c.1361C>A (p.Thr454Asn) c.1871C>A (p.Thr624Asn) c.1532C>A (p.Thr511Asn) c.1880C>A (p.Thr627Asn) c.1988C>A (p.Thr663Asn) c.1952C>A (p.Thr651Asn) c.1910C>A (p.Thr637Asn) c.1679+6151C>A (n.1679+6151C>A) c.2006C>A (p.Thr669Asn) c.2072C>A (p.Thr691Asn) c.2069C>A (p.Thr690Asn) c.2042C>A (p.Thr681Asn) c.1961C>A (p.Thr654Asn) c.1946C>A (p.Thr649Asn) c.1553C>A (p.Thr518Asn) c.2015C>A (p.Thr672Asn) c.1949C>A (p.Thr650Asn) c.1907C>A (p.Thr636Asn) c.980C>A (p.Thr327Asn) | ClinVar dbSNP gnomAD v4 |
20 | g.63407300T>A | CA409639325 | KCNQ2 | c.2017A>T (p.Thr673Ser) c.1963A>T (p.Thr655Ser) c.1360A>T (p.Thr454Ser) c.1870A>T (p.Thr624Ser) c.1531A>T (p.Thr511Ser) c.1879A>T (p.Thr627Ser) c.1987A>T (p.Thr663Ser) c.1951A>T (p.Thr651Ser) c.1909A>T (p.Thr637Ser) c.1679+6150A>T (n.1679+6150A>T) c.2005A>T (p.Thr669Ser) c.2071A>T (p.Thr691Ser) c.2068A>T (p.Thr690Ser) c.2041A>T (p.Thr681Ser) c.1960A>T (p.Thr654Ser) c.1945A>T (p.Thr649Ser) c.1552A>T (p.Thr518Ser) c.2014A>T (p.Thr672Ser) c.1948A>T (p.Thr650Ser) c.1906A>T (p.Thr636Ser) c.979A>T (p.Thr327Ser) | |
20 | g.63407300T>C | CA409639326 | KCNQ2 | c.2017A>G (p.Thr673Ala) c.1963A>G (p.Thr655Ala) c.1360A>G (p.Thr454Ala) c.1870A>G (p.Thr624Ala) c.1531A>G (p.Thr511Ala) c.1879A>G (p.Thr627Ala) c.1987A>G (p.Thr663Ala) c.1951A>G (p.Thr651Ala) c.1909A>G (p.Thr637Ala) c.1679+6150A>G (n.1679+6150A>G) c.2005A>G (p.Thr669Ala) c.2071A>G (p.Thr691Ala) c.2068A>G (p.Thr690Ala) c.2041A>G (p.Thr681Ala) c.1960A>G (p.Thr654Ala) c.1945A>G (p.Thr649Ala) c.1552A>G (p.Thr518Ala) c.2014A>G (p.Thr672Ala) c.1948A>G (p.Thr650Ala) c.1906A>G (p.Thr636Ala) c.979A>G (p.Thr327Ala) | ClinVar |
20 | g.63407300T>G | CA409639327 | KCNQ2 | c.2017A>C (p.Thr673Pro) c.1963A>C (p.Thr655Pro) c.1360A>C (p.Thr454Pro) c.1870A>C (p.Thr624Pro) c.1531A>C (p.Thr511Pro) c.1879A>C (p.Thr627Pro) c.1987A>C (p.Thr663Pro) c.1951A>C (p.Thr651Pro) c.1909A>C (p.Thr637Pro) c.1679+6150A>C (n.1679+6150A>C) c.2005A>C (p.Thr669Pro) c.2071A>C (p.Thr691Pro) c.2068A>C (p.Thr690Pro) c.2041A>C (p.Thr681Pro) c.1960A>C (p.Thr654Pro) c.1945A>C (p.Thr649Pro) c.1552A>C (p.Thr518Pro) c.2014A>C (p.Thr672Pro) c.1948A>C (p.Thr650Pro) c.1906A>C (p.Thr636Pro) c.979A>C (p.Thr327Pro) | |
20 | g.63407303_63407304del | CA2580616359 | KCNQ2 | c.2016_2017del (p.Glu672AspfsTer?) c.1962_1963del (p.Glu654AspfsTer?) c.1359_1360del (p.Glu453AspfsTer?) c.1869_1870del (p.Glu623AspfsTer?) c.1530_1531del (p.Glu510AspfsTer?) c.1878_1879del (p.Glu626AspfsTer?) c.1986_1987del (p.Glu662AspfsTer?) c.1950_1951del (p.Glu650AspfsTer?) c.1908_1909del (p.Glu636AspfsTer?) c.1679+6149_1679+6150del (n.1679+6149_1679+6150del) c.2004_2005del (p.Glu668AspfsTer?) c.2070_2071del (p.Glu690AspfsTer?) c.2067_2068del (p.Glu689AspfsTer?) c.2040_2041del (p.Glu680AspfsTer?) c.1959_1960del (p.Glu653AspfsTer?) c.1944_1945del (p.Glu648AspfsTer?) c.1551_1552del (p.Glu517AspfsTer?) c.2013_2014del (p.Glu671AspfsTer?) c.1947_1948del (p.Glu649AspfsTer?) c.1905_1906del (p.Glu635AspfsTer?) c.978_979del (p.Glu326AspfsTer?) | ClinVar |
20 | g.63407301C>A | CA409639328 | KCNQ2 | c.2016G>T (p.Glu672Asp) c.1962G>T (p.Glu654Asp) c.1359G>T (p.Glu453Asp) c.1869G>T (p.Glu623Asp) c.1530G>T (p.Glu510Asp) c.1878G>T (p.Glu626Asp) c.1986G>T (p.Glu662Asp) c.1950G>T (p.Glu650Asp) c.1908G>T (p.Glu636Asp) c.1679+6149G>T (n.1679+6149G>T) c.2004G>T (p.Glu668Asp) c.2070G>T (p.Glu690Asp) c.2067G>T (p.Glu689Asp) c.2040G>T (p.Glu680Asp) c.1959G>T (p.Glu653Asp) c.1944G>T (p.Glu648Asp) c.1551G>T (p.Glu517Asp) c.2013G>T (p.Glu671Asp) c.1947G>T (p.Glu649Asp) c.1905G>T (p.Glu635Asp) c.978G>T (p.Glu326Asp) | |
20 | g.63407301C>G | CA409639329 | KCNQ2 | c.2016G>C (p.Glu672Asp) c.1962G>C (p.Glu654Asp) c.1359G>C (p.Glu453Asp) c.1869G>C (p.Glu623Asp) c.1530G>C (p.Glu510Asp) c.1878G>C (p.Glu626Asp) c.1986G>C (p.Glu662Asp) c.1950G>C (p.Glu650Asp) c.1908G>C (p.Glu636Asp) c.1679+6149G>C (n.1679+6149G>C) c.2004G>C (p.Glu668Asp) c.2070G>C (p.Glu690Asp) c.2067G>C (p.Glu689Asp) c.2040G>C (p.Glu680Asp) c.1959G>C (p.Glu653Asp) c.1944G>C (p.Glu648Asp) c.1551G>C (p.Glu517Asp) c.2013G>C (p.Glu671Asp) c.1947G>C (p.Glu649Asp) c.1905G>C (p.Glu635Asp) c.978G>C (p.Glu326Asp) | gnomAD v4 |
20 | g.63407301C>T | CA511339555 | KCNQ2 | c.2016G>A (p.Glu672=) c.1962G>A (p.Glu654=) c.1359G>A (p.Glu453=) c.1869G>A (p.Glu623=) c.1530G>A (p.Glu510=) c.1878G>A (p.Glu626=) c.1986G>A (p.Glu662=) c.1950G>A (p.Glu650=) c.1908G>A (p.Glu636=) c.1679+6149G>A (n.1679+6149G>A) c.2004G>A (p.Glu668=) c.2070G>A (p.Glu690=) c.2067G>A (p.Glu689=) c.2040G>A (p.Glu680=) c.1959G>A (p.Glu653=) c.1944G>A (p.Glu648=) c.1551G>A (p.Glu517=) c.2013G>A (p.Glu671=) c.1947G>A (p.Glu649=) c.1905G>A (p.Glu635=) c.978G>A (p.Glu326=) | COSMIC COSMIC COSMIC |
20 | g.63407302T>A | CA409639330 | KCNQ2 | c.2015A>T (p.Glu672Val) c.1961A>T (p.Glu654Val) c.1358A>T (p.Glu453Val) c.1868A>T (p.Glu623Val) c.1529A>T (p.Glu510Val) c.1877A>T (p.Glu626Val) c.1985A>T (p.Glu662Val) c.1949A>T (p.Glu650Val) c.1907A>T (p.Glu636Val) c.1679+6148A>T (n.1679+6148A>T) c.2003A>T (p.Glu668Val) c.2069A>T (p.Glu690Val) c.2066A>T (p.Glu689Val) c.2039A>T (p.Glu680Val) c.1958A>T (p.Glu653Val) c.1943A>T (p.Glu648Val) c.1550A>T (p.Glu517Val) c.2012A>T (p.Glu671Val) c.1946A>T (p.Glu649Val) c.1904A>T (p.Glu635Val) c.977A>T (p.Glu326Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63407302T>C | CA409639331 | KCNQ2 | c.2015A>G (p.Glu672Gly) c.1961A>G (p.Glu654Gly) c.1358A>G (p.Glu453Gly) c.1868A>G (p.Glu623Gly) c.1529A>G (p.Glu510Gly) c.1877A>G (p.Glu626Gly) c.1985A>G (p.Glu662Gly) c.1949A>G (p.Glu650Gly) c.1907A>G (p.Glu636Gly) c.1679+6148A>G (n.1679+6148A>G) c.2003A>G (p.Glu668Gly) c.2069A>G (p.Glu690Gly) c.2066A>G (p.Glu689Gly) c.2039A>G (p.Glu680Gly) c.1958A>G (p.Glu653Gly) c.1943A>G (p.Glu648Gly) c.1550A>G (p.Glu517Gly) c.2012A>G (p.Glu671Gly) c.1946A>G (p.Glu649Gly) c.1904A>G (p.Glu635Gly) c.977A>G (p.Glu326Gly) | |
20 | g.63407302T>G | CA409639332 | KCNQ2 | c.2015A>C (p.Glu672Ala) c.1961A>C (p.Glu654Ala) c.1358A>C (p.Glu453Ala) c.1868A>C (p.Glu623Ala) c.1529A>C (p.Glu510Ala) c.1877A>C (p.Glu626Ala) c.1985A>C (p.Glu662Ala) c.1949A>C (p.Glu650Ala) c.1907A>C (p.Glu636Ala) c.1679+6148A>C (n.1679+6148A>C) c.2003A>C (p.Glu668Ala) c.2069A>C (p.Glu690Ala) c.2066A>C (p.Glu689Ala) c.2039A>C (p.Glu680Ala) c.1958A>C (p.Glu653Ala) c.1943A>C (p.Glu648Ala) c.1550A>C (p.Glu517Ala) c.2012A>C (p.Glu671Ala) c.1946A>C (p.Glu649Ala) c.1904A>C (p.Glu635Ala) c.977A>C (p.Glu326Ala) | |
20 | g.63407302T= | CA2374774536 | KCNQ2 | c.2015A= (p.Glu672=) c.1961A= (p.Glu654=) c.1358A= (p.Glu453=) c.1868A= (p.Glu623=) c.1529A= (p.Glu510=) c.1877A= (p.Glu626=) c.1985A= (p.Glu662=) c.1949A= (p.Glu650=) c.1907A= (p.Glu636=) c.1679+6148A= (n.1679+6148A=) c.2003A= (p.Glu668=) c.2069A= (p.Glu690=) c.2066A= (p.Glu689=) c.2039A= (p.Glu680=) c.1958A= (p.Glu653=) c.1943A= (p.Glu648=) c.1550A= (p.Glu517=) c.2012A= (p.Glu671=) c.1946A= (p.Glu649=) c.1904A= (p.Glu635=) c.977A= (p.Glu326=) |