Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.63406617G>A	CA9958044	KCNQ2	c.27C>T (n.27C>T) c.2214C>T (n.2214C>T) c.2241+429C>T (n.2241+429C>T) c.2205+429C>T (n.2205+429C>T) c.2133+429C>T (n.2133+429C>T) c.1680-5774C>T (n.1680-5774C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406617G>C	CA746467615	KCNQ2	c.27C>G (n.27C>G) c.2214C>G (n.2214C>G) c.2241+429C>G (n.2241+429C>G) c.2205+429C>G (n.2205+429C>G) c.2133+429C>G (n.2133+429C>G) c.1680-5774C>G (n.1680-5774C>G)	dbSNP gnomAD v4
20	g.63406617G=	CA2374774150	KCNQ2	c.27C= (n.27C=) c.2214C= (n.2214C=) c.2241+429C= (n.2241+429C=) c.2205+429C= (n.2205+429C=) c.2133+429C= (n.2133+429C=) c.1680-5774C= (n.1680-5774C=)
20	g.63406617G>T	CA2653804082	KCNQ2	c.27C>A (n.27C>A) c.2214C>A (n.2214C>A) c.2241+429C>A (n.2241+429C>A) c.2205+429C>A (n.2205+429C>A) c.2133+429C>A (n.2133+429C>A) c.1680-5774C>A (n.1680-5774C>A)	gnomAD v4
20	g.63406619del	CA2653804081	KCNQ2	c.27del (n.27del) c.2214del (n.2214del) c.2241+429del (n.2241+429del) c.2205+429del (n.2205+429del) c.2133+429del (n.2133+429del) c.1680-5774del (n.1680-5774del)	gnomAD v4
20	g.63406618G>T	CA2653804091	KCNQ2	c.26C>A (n.26C>A) c.2213C>A (n.2213C>A) c.2241+428C>A (n.2241+428C>A) c.2205+428C>A (n.2205+428C>A) c.2133+428C>A (n.2133+428C>A) c.1680-5775C>A (n.1680-5775C>A)	gnomAD v4
20	g.63406619G>A	CA317421391	KCNQ2	c.25C>T (n.25C>T) c.2212C>T (n.2212C>T) c.2241+427C>T (n.2241+427C>T) c.2205+427C>T (n.2205+427C>T) c.2133+427C>T (n.2133+427C>T) c.1680-5776C>T (n.1680-5776C>T)	dbSNP gnomAD v3 gnomAD v4
20	g.63406619G=	CA2374774151	KCNQ2	c.25C= (n.25C=) c.2212C= (n.2212C=) c.2241+427C= (n.2241+427C=) c.2205+427C= (n.2205+427C=) c.2133+427C= (n.2133+427C=) c.1680-5776C= (n.1680-5776C=)
20	g.63406619G>T	CA2653804092	KCNQ2	c.25C>A (n.25C>A) c.2212C>A (n.2212C>A) c.2241+427C>A (n.2241+427C>A) c.2205+427C>A (n.2205+427C>A) c.2133+427C>A (n.2133+427C>A) c.1680-5776C>A (n.1680-5776C>A)	gnomAD v4
20	g.63406619_63406620delinsGC	CA2374774152	KCNQ2	c.24_25delinsGC (n.24_25delinsGC) c.2211_2212delinsGC (n.2211_2212delinsGC) c.2241+426_2241+427delinsGC (n.2241+426_2241+427delinsGC) c.2205+426_2205+427delinsGC (n.2205+426_2205+427delinsGC) c.2133+426_2133+427delinsGC (n.2133+426_2133+427delinsGC) c.1680-5777_1680-5776delinsGC (n.1680-5777_1680-5776delinsGC)
20	g.63406620del	CA1019288245	KCNQ2	c.24del (n.24del) c.2211del (n.2211del) c.2241+426del (n.2241+426del) c.2205+426del (n.2205+426del) c.2133+426del (n.2133+426del) c.1680-5777del (n.1680-5777del)	dbSNP gnomAD v3 gnomAD v4
20	g.63406620C>A	CA2653804098	KCNQ2	c.24G>T (n.24G>T) c.2211G>T (n.2211G>T) c.2241+426G>T (n.2241+426G>T) c.2205+426G>T (n.2205+426G>T) c.2133+426G>T (n.2133+426G>T) c.1680-5777G>T (n.1680-5777G>T)	gnomAD v4
20	g.63406620C=	CA2374774153	KCNQ2	c.24G= (n.24G=) c.2211G= (n.2211G=) c.2241+426G= (n.2241+426G=) c.2205+426G= (n.2205+426G=) c.2133+426G= (n.2133+426G=) c.1680-5777G= (n.1680-5777G=)
20	g.63406620C>G	CA2653804099	KCNQ2	c.24G>C (n.24G>C) c.2211G>C (n.2211G>C) c.2241+426G>C (n.2241+426G>C) c.2205+426G>C (n.2205+426G>C) c.2133+426G>C (n.2133+426G>C) c.1680-5777G>C (n.1680-5777G>C)	gnomAD v4
20	g.63406620C>T	CA9958045	KCNQ2	c.24G>A (n.24G>A) c.2211G>A (n.2211G>A) c.2241+426G>A (n.2241+426G>A) c.2205+426G>A (n.2205+426G>A) c.2133+426G>A (n.2133+426G>A) c.1680-5777G>A (n.1680-5777G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406621G>A	CA317421400	KCNQ2	c.23C>T (n.23C>T) c.2210C>T (n.2210C>T) c.2241+425C>T (n.2241+425C>T) c.2205+425C>T (n.2205+425C>T) c.2133+425C>T (n.2133+425C>T) c.1680-5778C>T (n.1680-5778C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406621G>C	CA636340681	KCNQ2	c.23C>G (n.23C>G) c.2210C>G (n.2210C>G) c.2241+425C>G (n.2241+425C>G) c.2205+425C>G (n.2205+425C>G) c.2133+425C>G (n.2133+425C>G) c.1680-5778C>G (n.1680-5778C>G)	dbSNP gnomAD v2 gnomAD v4
20	g.63406621G=	CA2374774154	KCNQ2	c.23C= (n.23C=) c.2210C= (n.2210C=) c.2241+425C= (n.2241+425C=) c.2205+425C= (n.2205+425C=) c.2133+425C= (n.2133+425C=) c.1680-5778C= (n.1680-5778C=)
20	g.63406621G>T	CA9958046	KCNQ2	c.23C>A (n.23C>A) c.2210C>A (n.2210C>A) c.2241+425C>A (n.2241+425C>A) c.2205+425C>A (n.2205+425C>A) c.2133+425C>A (n.2133+425C>A) c.1680-5778C>A (n.1680-5778C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406622G>A	CA317421403	KCNQ2	c.22C>T (n.22C>T) c.2209C>T (n.2209C>T) c.2241+424C>T (n.2241+424C>T) c.2205+424C>T (n.2205+424C>T) c.2133+424C>T (n.2133+424C>T) c.1680-5779C>T (n.1680-5779C>T)	dbSNP gnomAD v3 gnomAD v4
20	g.63406622G=	CA2374774155	KCNQ2	c.22C= (n.22C=) c.2209C= (n.2209C=) c.2241+424C= (n.2241+424C=) c.2205+424C= (n.2205+424C=) c.2133+424C= (n.2133+424C=) c.1680-5779C= (n.1680-5779C=)
20	g.63406622G>T	CA2653804108	KCNQ2	c.22C>A (n.22C>A) c.2209C>A (n.2209C>A) c.2241+424C>A (n.2241+424C>A) c.2205+424C>A (n.2205+424C>A) c.2133+424C>A (n.2133+424C>A) c.1680-5779C>A (n.1680-5779C>A)	gnomAD v4
20	g.63406623G>T	CA2653804111	KCNQ2	c.21C>A (n.21C>A) c.2208C>A (n.2208C>A) c.2241+423C>A (n.2241+423C>A) c.2205+423C>A (n.2205+423C>A) c.2133+423C>A (n.2133+423C>A) c.1680-5780C>A (n.1680-5780C>A)	gnomAD v4
20	g.63406624T>A	CA2653804113	KCNQ2	c.20A>T (n.20A>T) c.2207A>T (n.2207A>T) c.2241+422A>T (n.2241+422A>T) c.2205+422A>T (n.2205+422A>T) c.2133+422A>T (n.2133+422A>T) c.1680-5781A>T (n.1680-5781A>T)	gnomAD v4
20	g.63406624T>C	CA2653804115	KCNQ2	c.20A>G (n.20A>G) c.2207A>G (n.2207A>G) c.2241+422A>G (n.2241+422A>G) c.2205+422A>G (n.2205+422A>G) c.2133+422A>G (n.2133+422A>G) c.1680-5781A>G (n.1680-5781A>G)	gnomAD v4
20	g.63406624T>G	CA636340684	KCNQ2	c.20A>C (n.20A>C) c.2207A>C (n.2207A>C) c.2241+422A>C (n.2241+422A>C) c.2205+422A>C (n.2205+422A>C) c.2133+422A>C (n.2133+422A>C) c.1680-5781A>C (n.1680-5781A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406624T=	CA2374774156	KCNQ2	c.20A= (n.20A=) c.2207A= (n.2207A=) c.2241+422A= (n.2241+422A=) c.2205+422A= (n.2205+422A=) c.2133+422A= (n.2133+422A=) c.1680-5781A= (n.1680-5781A=)
20	g.63406625C>A	CA2653804118	KCNQ2	c.19G>T (n.19G>T) c.2206G>T (n.2206G>T) c.2241+421G>T (n.2241+421G>T) c.2205+421G>T (n.2205+421G>T) c.2133+421G>T (n.2133+421G>T) c.1680-5782G>T (n.1680-5782G>T)	gnomAD v4
20	g.63406625C=	CA2374774157	KCNQ2	c.19G= (n.19G=) c.2206G= (n.2206G=) c.2241+421G= (n.2241+421G=) c.2205+421G= (n.2205+421G=) c.2133+421G= (n.2133+421G=) c.1680-5782G= (n.1680-5782G=)
20	g.63406625C>G	CA746467623	KCNQ2	c.19G>C (n.19G>C) c.2206G>C (n.2206G>C) c.2241+421G>C (n.2241+421G>C) c.2205+421G>C (n.2205+421G>C) c.2133+421G>C (n.2133+421G>C) c.1680-5782G>C (n.1680-5782G>C)	dbSNP gnomAD v3 gnomAD v4
20	g.63406626C>A	CA2653804120	KCNQ2	c.18G>T (n.18G>T) c.2205G>T (n.2205G>T) c.2241+420G>T (n.2241+420G>T) c.2205+420G>T (n.2205+420G>T) c.2133+420G>T (n.2133+420G>T) c.1680-5783G>T (n.1680-5783G>T)	gnomAD v4
20	g.63406626C>T	CA2653804121	KCNQ2	c.18G>A (n.18G>A) c.2205G>A (n.2205G>A) c.2241+420G>A (n.2241+420G>A) c.2205+420G>A (n.2205+420G>A) c.2133+420G>A (n.2133+420G>A) c.1680-5783G>A (n.1680-5783G>A)	gnomAD v4
20	g.63406627A>G	CA2653804126	KCNQ2	c.17T>C (n.17T>C) c.2204T>C (n.2204T>C) c.2241+419T>C (n.2241+419T>C) c.2205+419T>C (n.2205+419T>C) c.2133+419T>C (n.2133+419T>C) c.1680-5784T>C (n.1680-5784T>C)	gnomAD v4
20	g.63406628C>A	CA2653804128	KCNQ2	c.16G>T (n.16G>T) c.2203G>T (n.2203G>T) c.2241+418G>T (n.2241+418G>T) c.2205+418G>T (n.2205+418G>T) c.2133+418G>T (n.2133+418G>T) c.1680-5785G>T (n.1680-5785G>T)	gnomAD v4
20	g.63406628C>G	CA2577453406	KCNQ2	c.16G>C (n.16G>C) c.2203G>C (n.2203G>C) c.2241+418G>C (n.2241+418G>C) c.2205+418G>C (n.2205+418G>C) c.2133+418G>C (n.2133+418G>C) c.1680-5785G>C (n.1680-5785G>C)
20	g.63406628C>T	CA2653804130	KCNQ2	c.16G>A (n.16G>A) c.2203G>A (n.2203G>A) c.2241+418G>A (n.2241+418G>A) c.2205+418G>A (n.2205+418G>A) c.2133+418G>A (n.2133+418G>A) c.1680-5785G>A (n.1680-5785G>A)	gnomAD v4
20	g.63406629T>A	CA2653804133	KCNQ2	c.15A>T (n.15A>T) c.2202A>T (n.2202A>T) c.2241+417A>T (n.2241+417A>T) c.2205+417A>T (n.2205+417A>T) c.2133+417A>T (n.2133+417A>T) c.1680-5786A>T (n.1680-5786A>T)	gnomAD v4
20	g.63406629T>C	CA636614155	KCNQ2	c.15A>G (n.15A>G) c.2202A>G (n.2202A>G) c.2241+417A>G (n.2241+417A>G) c.2205+417A>G (n.2205+417A>G) c.2133+417A>G (n.2133+417A>G) c.1680-5786A>G (n.1680-5786A>G)	dbSNP gnomAD v2 gnomAD v4
20	g.63406629T=	CA2374774158	KCNQ2	c.15A= (n.15A=) c.2202A= (n.2202A=) c.2241+417A= (n.2241+417A=) c.2205+417A= (n.2205+417A=) c.2133+417A= (n.2133+417A=) c.1680-5786A= (n.1680-5786A=)
20	g.63406630G>A	CA2653804143	KCNQ2	c.14C>T (n.14C>T) c.2201C>T (n.2201C>T) c.2241+416C>T (n.2241+416C>T) c.2205+416C>T (n.2205+416C>T) c.2133+416C>T (n.2133+416C>T) c.1680-5787C>T (n.1680-5787C>T)	gnomAD v4
20	g.63406630G>T	CA2653804145	KCNQ2	c.14C>A (n.14C>A) c.2201C>A (n.2201C>A) c.2241+416C>A (n.2241+416C>A) c.2205+416C>A (n.2205+416C>A) c.2133+416C>A (n.2133+416C>A) c.1680-5787C>A (n.1680-5787C>A)	gnomAD v4
20	g.63406631del	CA2653804140	KCNQ2	c.14del (n.14del) c.2201del (n.2201del) c.2241+416del (n.2241+416del) c.2205+416del (n.2205+416del) c.2133+416del (n.2133+416del) c.1680-5787del (n.1680-5787del)	gnomAD v4
20	g.63406638_63406666del	CA2653804141	KCNQ2	c.2659_14del (n.[c.2659_14del;Gly887SerfsTer28]) c.2605_14del (n.[c.2605_14del;Gly869SerfsTer28]) c.2002_14del (n.[c.2002_14del;Gly668SerfsTer28]) c.2512_14del (n.[c.2512_14del;Gly838SerfsTer28]) c.2173_2201del (n.[c.2173_2201del;Gly725SerfsTer28]) c.2521_14del (n.[c.2521_14del;Gly841SerfsTer28]) c.2241+388_2241+416del (n.2241+388_2241+416del) c.2205+388_2205+416del (n.2205+388_2205+416del) c.2551_14del (n.[c.2551_14del;Gly851SerfsTer28]) c.2133+388_2133+416del (n.2133+388_2133+416del) c.1680-5815_1680-5787del (n.1680-5815_1680-5787del) c.2647_14del (n.[c.2647_14del;Gly883SerfsTer28]) c.2713_14del (n.[c.2713_14del;Gly905SerfsTer28]) c.2710_14del (n.[c.2710_14del;Gly904SerfsTer28]) c.2683_14del (n.[c.2683_14del;Gly895SerfsTer28]) c.2629_14del (n.[c.2629_14del;Gly877SerfsTer28]) c.2602_14del (n.[c.2602_14del;Gly868SerfsTer28]) c.2587_14del (n.[c.2587_14del;Gly863SerfsTer28]) c.2194_14del (n.[c.2194_14del;Gly732SerfsTer28]) c.2656_14del (n.[c.2656_14del;Gly886SerfsTer28]) c.2593_14del (n.[c.2593_14del;Gly865SerfsTer28]) c.2590_14del (n.[c.2590_14del;Gly864SerfsTer28]) c.2548_14del (n.[c.2548_14del;Gly850SerfsTer28]) c.1621_14del (n.[c.1621_14del;Gly541SerfsTer28])	gnomAD v4
20	g.63406631G>A	CA2653804146	KCNQ2	c.13C>T (n.13C>T) c.2200C>T (n.2200C>T) c.2241+415C>T (n.2241+415C>T) c.2205+415C>T (n.2205+415C>T) c.2133+415C>T (n.2133+415C>T) c.1680-5788C>T (n.1680-5788C>T)	gnomAD v4
20	g.63406631G=	CA2374774159	KCNQ2	c.13C= (n.13C=) c.2200C= (n.2200C=) c.2241+415C= (n.2241+415C=) c.2205+415C= (n.2205+415C=) c.2133+415C= (n.2133+415C=) c.1680-5788C= (n.1680-5788C=)
20	g.63406631G>T	CA1019288246	KCNQ2	c.13C>A (n.13C>A) c.2200C>A (n.2200C>A) c.2241+415C>A (n.2241+415C>A) c.2205+415C>A (n.2205+415C>A) c.2133+415C>A (n.2133+415C>A) c.1680-5788C>A (n.1680-5788C>A)	dbSNP gnomAD v3 gnomAD v4
20	g.63406632C>A	CA2653804152	KCNQ2	c.12G>T (n.12G>T) c.2199G>T (n.2199G>T) c.2241+414G>T (n.2241+414G>T) c.2205+414G>T (n.2205+414G>T) c.2133+414G>T (n.2133+414G>T) c.1680-5789G>T (n.1680-5789G>T)	gnomAD v4
20	g.63406632C=	CA2374774160	KCNQ2	c.12G= (n.12G=) c.2199G= (n.2199G=) c.2241+414G= (n.2241+414G=) c.2205+414G= (n.2205+414G=) c.2133+414G= (n.2133+414G=) c.1680-5789G= (n.1680-5789G=)
20	g.63406632C>T	CA9958047	KCNQ2	c.12G>A (n.12G>A) c.2199G>A (n.2199G>A) c.2241+414G>A (n.2241+414G>A) c.2205+414G>A (n.2205+414G>A) c.2133+414G>A (n.2133+414G>A) c.1680-5789G>A (n.1680-5789G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63406634C>A	CA2653804162	KCNQ2	c.10G>T (n.10G>T) c.2197G>T (n.2197G>T) c.2241+412G>T (n.2241+412G>T) c.2205+412G>T (n.2205+412G>T) c.2133+412G>T (n.2133+412G>T) c.1680-5791G>T (n.1680-5791G>T)	gnomAD v4
20	g.63406634C>T	CA2653804165	KCNQ2	c.10G>A (n.10G>A) c.2197G>A (n.2197G>A) c.2241+412G>A (n.2241+412G>A) c.2205+412G>A (n.2205+412G>A) c.2133+412G>A (n.2133+412G>A) c.1680-5791G>A (n.1680-5791G>A)	gnomAD v4
20	g.63406635A>G	CA2653804167	KCNQ2	c.9T>C (n.9T>C) c.2196T>C (n.2196T>C) c.2241+411T>C (n.2241+411T>C) c.2205+411T>C (n.2205+411T>C) c.2133+411T>C (n.2133+411T>C) c.1680-5792T>C (n.1680-5792T>C)	gnomAD v4
20	g.63406636G>A	CA2653804170	KCNQ2	c.8C>T (n.8C>T) c.2195C>T (n.2195C>T) c.2241+410C>T (n.2241+410C>T) c.2205+410C>T (n.2205+410C>T) c.2133+410C>T (n.2133+410C>T) c.1680-5793C>T (n.1680-5793C>T)	gnomAD v4
20	g.63406636G>C	CA2653804173	KCNQ2	c.8C>G (n.8C>G) c.2195C>G (n.2195C>G) c.2241+410C>G (n.2241+410C>G) c.2205+410C>G (n.2205+410C>G) c.2133+410C>G (n.2133+410C>G) c.1680-5793C>G (n.1680-5793C>G)	gnomAD v4
20	g.63406637C>A	CA636614156	KCNQ2	c.7G>T (n.7G>T) c.2194G>T (n.2194G>T) c.2241+409G>T (n.2241+409G>T) c.2205+409G>T (n.2205+409G>T) c.2133+409G>T (n.2133+409G>T) c.1680-5794G>T (n.1680-5794G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406637C=	CA2374774161	KCNQ2	c.7G= (n.7G=) c.2194G= (n.2194G=) c.2241+409G= (n.2241+409G=) c.2205+409G= (n.2205+409G=) c.2133+409G= (n.2133+409G=) c.1680-5794G= (n.1680-5794G=)
20	g.63406637C>T	CA9958048	KCNQ2	c.7G>A (n.7G>A) c.2194G>A (n.2194G>A) c.2241+409G>A (n.2241+409G>A) c.2205+409G>A (n.2205+409G>A) c.2133+409G>A (n.2133+409G>A) c.1680-5794G>A (n.1680-5794G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406638G>A	CA9958049	KCNQ2	c.6C>T (n.6C>T) c.2193C>T (n.2193C>T) c.2241+408C>T (n.2241+408C>T) c.2205+408C>T (n.2205+408C>T) c.2133+408C>T (n.2133+408C>T) c.1680-5795C>T (n.1680-5795C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406638G=	CA2374774162	KCNQ2	c.6C= (n.6C=) c.2193C= (n.2193C=) c.2241+408C= (n.2241+408C=) c.2205+408C= (n.2205+408C=) c.2133+408C= (n.2133+408C=) c.1680-5795C= (n.1680-5795C=)
20	g.63406638G>T	CA2653804183	KCNQ2	c.6C>A (n.6C>A) c.2193C>A (n.2193C>A) c.2241+408C>A (n.2241+408C>A) c.2205+408C>A (n.2205+408C>A) c.2133+408C>A (n.2133+408C>A) c.1680-5795C>A (n.1680-5795C>A)	gnomAD v4
20	g.63406639C>T	CA2653804185	KCNQ2	c.5G>A (n.5G>A) c.2192G>A (n.2192G>A) c.2241+407G>A (n.2241+407G>A) c.2205+407G>A (n.2205+407G>A) c.2133+407G>A (n.2133+407G>A) c.1680-5796G>A (n.1680-5796G>A)	gnomAD v4
20	g.63406640C>A	CA2653804189	KCNQ2	c.4G>T (n.4G>T) c.2191G>T (n.2191G>T) c.2241+406G>T (n.2241+406G>T) c.2205+406G>T (n.2205+406G>T) c.2133+406G>T (n.2133+406G>T) c.1680-5797G>T (n.1680-5797G>T)	gnomAD v4
20	g.63406640C=	CA2374774163	KCNQ2	c.4G= (n.4G=) c.2191G= (n.2191G=) c.2241+406G= (n.2241+406G=) c.2205+406G= (n.2205+406G=) c.2133+406G= (n.2133+406G=) c.1680-5797G= (n.1680-5797G=)
20	g.63406640C>T	CA234144	KCNQ2	c.4G>A (n.4G>A) c.2191G>A (n.2191G>A) c.2241+406G>A (n.2241+406G>A) c.2205+406G>A (n.2205+406G>A) c.2133+406G>A (n.2133+406G>A) c.1680-5797G>A (n.1680-5797G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406641G>A	CA9958050	KCNQ2	c.3C>T (n.3C>T) c.2190C>T (n.2190C>T) c.2241+405C>T (n.2241+405C>T) c.2205+405C>T (n.2205+405C>T) c.2133+405C>T (n.2133+405C>T) c.1680-5798C>T (n.1680-5798C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406641G=	CA2374774164	KCNQ2	c.3C= (n.3C=) c.2190C= (n.2190C=) c.2241+405C= (n.2241+405C=) c.2205+405C= (n.2205+405C=) c.2133+405C= (n.2133+405C=) c.1680-5798C= (n.1680-5798C=)
20	g.63406641G>T	CA2653804203	KCNQ2	c.3C>A (n.3C>A) c.2190C>A (n.2190C>A) c.2241+405C>A (n.2241+405C>A) c.2205+405C>A (n.2205+405C>A) c.2133+405C>A (n.2133+405C>A) c.1680-5798C>A (n.1680-5798C>A)	gnomAD v4
20	g.63406642_63406644delinsCCT	CA2374774165	KCNQ2	c.2673_2delinsAGG (n.[c.2673_2delinsAGG;Ter891=]) c.2619_2delinsAGG (n.[c.2619_2delinsAGG;Ter873=]) c.2016_2delinsAGG (n.[c.2016_2delinsAGG;Ter672=]) c.2526_2delinsAGG (n.[c.2526_2delinsAGG;Ter842=]) c.2187_2189delinsAGG (n.[c.2187_2189delinsAGG;Ter729=]) c.2535_2delinsAGG (n.[c.2535_2delinsAGG;Ter845=]) c.2241+402_2241+404delinsAGG (n.2241+402_2241+404delinsAGG) c.2205+402_2205+404delinsAGG (n.2205+402_2205+404delinsAGG) c.2565_2delinsAGG (n.[c.2565_2delinsAGG;Ter855=]) c.2133+402_2133+404delinsAGG (n.2133+402_2133+404delinsAGG) c.1680-5801_1680-5799delinsAGG (n.1680-5801_1680-5799delinsAGG) c.2661_2delinsAGG (n.[c.2661_2delinsAGG;Ter887=]) c.2727_2delinsAGG (n.[c.2727_2delinsAGG;Ter909=]) c.2724_2delinsAGG (n.[c.2724_2delinsAGG;Ter908=]) c.2697_2delinsAGG (n.[c.2697_2delinsAGG;Ter899=]) c.2643_2delinsAGG (n.[c.2643_2delinsAGG;Ter881=]) c.2616_2delinsAGG (n.[c.2616_2delinsAGG;Ter872=]) c.2601_2delinsAGG (n.[c.2601_2delinsAGG;Ter867=]) c.2208_2delinsAGG (n.[c.2208_2delinsAGG;Ter736=]) c.2670_2delinsAGG (n.[c.2670_2delinsAGG;Ter890=]) c.2607_2delinsAGG (n.[c.2607_2delinsAGG;Ter869=]) c.2604_2delinsAGG (n.[c.2604_2delinsAGG;Ter868=]) c.2562_2delinsAGG (n.[c.2562_2delinsAGG;Ter854=]) c.1635_2delinsAGG (n.[c.1635_2delinsAGG;Ter545=])
20	g.63406643C>A	CA2653804209	KCNQ2	c.1G>T (n.1G>T) c.2188G>T (n.2188G>T) c.2241+403G>T (n.2241+403G>T) c.2205+403G>T (n.2205+403G>T) c.2133+403G>T (n.2133+403G>T) c.1680-5800G>T (n.1680-5800G>T)	gnomAD v4
20	g.63406643C>T	CA2653804211	KCNQ2	c.1G>A (n.1G>A) c.2188G>A (n.2188G>A) c.2241+403G>A (n.2241+403G>A) c.2205+403G>A (n.2205+403G>A) c.2133+403G>A (n.2133+403G>A) c.1680-5800G>A (n.1680-5800G>A)	gnomAD v4
20	g.63406644_63406645del	CA2374774166	KCNQ2	c.2673_1del (n.[c.2673_1del;Ter891TrpextTer?]) c.2619_1del (n.[c.2619_1del;Ter873TrpextTer?]) c.2016_1del (n.[c.2016_1del;Ter672TrpextTer?]) c.2526_1del (n.[c.2526_1del;Ter842TrpextTer?]) c.2187_2188del (n.[c.2187_2188del;Ter729TrpextTer?]) c.2535_1del (n.[c.2535_1del;Ter845TrpextTer?]) c.2241+402_2241+403del (n.2241+402_2241+403del) c.2205+402_2205+403del (n.2205+402_2205+403del) c.2565_1del (n.[c.2565_1del;Ter855TrpextTer?]) c.2133+402_2133+403del (n.2133+402_2133+403del) c.1680-5801_1680-5800del (n.1680-5801_1680-5800del) c.2661_1del (n.[c.2661_1del;Ter887TrpextTer?]) c.2727_1del (n.[c.2727_1del;Ter909TrpextTer?]) c.2724_1del (n.[c.2724_1del;Ter908TrpextTer?]) c.2697_1del (n.[c.2697_1del;Ter899TrpextTer?]) c.2643_1del (n.[c.2643_1del;Ter881TrpextTer?]) c.2616_1del (n.[c.2616_1del;Ter872TrpextTer?]) c.2601_1del (n.[c.2601_1del;Ter867TrpextTer?]) c.2208_1del (n.[c.2208_1del;Ter736TrpextTer?]) c.2670_1del (n.[c.2670_1del;Ter890TrpextTer?]) c.2607_1del (n.[c.2607_1del;Ter869TrpextTer?]) c.2604_1del (n.[c.2604_1del;Ter868TrpextTer?]) c.2562_1del (n.[c.2562_1del;Ter854TrpextTer?]) c.1635_1del (n.[c.1635_1del;Ter545TrpextTer?])	dbSNP
20	g.63406644T>A	CA409636267	KCNQ2	c.2673A>T (p.Ter891Cys) c.2619A>T (p.Ter873Cys) c.2016A>T (p.Ter672Cys) c.2526A>T (p.Ter842Cys) c.2187A>T (p.Ter729Cys) c.2535A>T (p.Ter845Cys) c.2241+402A>T (n.2241+402A>T) c.2205+402A>T (n.2205+402A>T) c.2565A>T (p.Ter855Cys) c.2133+402A>T (n.2133+402A>T) c.1680-5801A>T (n.1680-5801A>T) c.2661A>T (p.Ter887Cys) c.2727A>T (p.Ter909Cys) c.2724A>T (p.Ter908Cys) c.2697A>T (p.Ter899Cys) c.2643A>T (p.Ter881Cys) c.2616A>T (p.Ter872Cys) c.2601A>T (p.Ter867Cys) c.2208A>T (p.Ter736Cys) c.2670A>T (p.Ter890Cys) c.2607A>T (p.Ter869Cys) c.2604A>T (p.Ter868Cys) c.2562A>T (p.Ter854Cys) c.1635A>T (p.Ter545Cys)
20	g.63406644T>C	CA409636265	KCNQ2	c.2673A>G (p.Ter891Trp) c.2619A>G (p.Ter873Trp) c.2016A>G (p.Ter672Trp) c.2526A>G (p.Ter842Trp) c.2187A>G (p.Ter729Trp) c.2535A>G (p.Ter845Trp) c.2241+402A>G (n.2241+402A>G) c.2205+402A>G (n.2205+402A>G) c.2565A>G (p.Ter855Trp) c.2133+402A>G (n.2133+402A>G) c.1680-5801A>G (n.1680-5801A>G) c.2661A>G (p.Ter887Trp) c.2727A>G (p.Ter909Trp) c.2724A>G (p.Ter908Trp) c.2697A>G (p.Ter899Trp) c.2643A>G (p.Ter881Trp) c.2616A>G (p.Ter872Trp) c.2601A>G (p.Ter867Trp) c.2208A>G (p.Ter736Trp) c.2670A>G (p.Ter890Trp) c.2607A>G (p.Ter869Trp) c.2604A>G (p.Ter868Trp) c.2562A>G (p.Ter854Trp) c.1635A>G (p.Ter545Trp)
20	g.63406644T>G	CA409636260	KCNQ2	c.2673A>C (p.Ter891Cys) c.2619A>C (p.Ter873Cys) c.2016A>C (p.Ter672Cys) c.2526A>C (p.Ter842Cys) c.2187A>C (p.Ter729Cys) c.2535A>C (p.Ter845Cys) c.2241+402A>C (n.2241+402A>C) c.2205+402A>C (n.2205+402A>C) c.2565A>C (p.Ter855Cys) c.2133+402A>C (n.2133+402A>C) c.1680-5801A>C (n.1680-5801A>C) c.2661A>C (p.Ter887Cys) c.2727A>C (p.Ter909Cys) c.2724A>C (p.Ter908Cys) c.2697A>C (p.Ter899Cys) c.2643A>C (p.Ter881Cys) c.2616A>C (p.Ter872Cys) c.2601A>C (p.Ter867Cys) c.2208A>C (p.Ter736Cys) c.2670A>C (p.Ter890Cys) c.2607A>C (p.Ter869Cys) c.2604A>C (p.Ter868Cys) c.2562A>C (p.Ter854Cys) c.1635A>C (p.Ter545Cys)
20	g.63406645C>A	CA409636271	KCNQ2	c.2672G>T (p.Ter891Leu) c.2618G>T (p.Ter873Leu) c.2015G>T (p.Ter672Leu) c.2525G>T (p.Ter842Leu) c.2186G>T (p.Ter729Leu) c.2534G>T (p.Ter845Leu) c.2241+401G>T (n.2241+401G>T) c.2205+401G>T (n.2205+401G>T) c.2564G>T (p.Ter855Leu) c.2133+401G>T (n.2133+401G>T) c.1680-5802G>T (n.1680-5802G>T) c.2660G>T (p.Ter887Leu) c.2726G>T (p.Ter909Leu) c.2723G>T (p.Ter908Leu) c.2696G>T (p.Ter899Leu) c.2642G>T (p.Ter881Leu) c.2615G>T (p.Ter872Leu) c.2600G>T (p.Ter867Leu) c.2207G>T (p.Ter736Leu) c.2669G>T (p.Ter890Leu) c.2606G>T (p.Ter869Leu) c.2603G>T (p.Ter868Leu) c.2561G>T (p.Ter854Leu) c.1634G>T (p.Ter545Leu)
20	g.63406645C=	CA2374774167	KCNQ2	c.2672G= (p.Ter891=) c.2618G= (p.Ter873=) c.2015G= (p.Ter672=) c.2525G= (p.Ter842=) c.2186G= (p.Ter729=) c.2534G= (p.Ter845=) c.2241+401G= (n.2241+401G=) c.2205+401G= (n.2205+401G=) c.2564G= (p.Ter855=) c.2133+401G= (n.2133+401G=) c.1680-5802G= (n.1680-5802G=) c.2660G= (p.Ter887=) c.2726G= (p.Ter909=) c.2723G= (p.Ter908=) c.2696G= (p.Ter899=) c.2642G= (p.Ter881=) c.2615G= (p.Ter872=) c.2600G= (p.Ter867=) c.2207G= (p.Ter736=) c.2669G= (p.Ter890=) c.2606G= (p.Ter869=) c.2603G= (p.Ter868=) c.2561G= (p.Ter854=) c.1634G= (p.Ter545=)
20	g.63406645C>G	CA409636274	KCNQ2	c.2672G>C (p.Ter891Ser) c.2618G>C (p.Ter873Ser) c.2015G>C (p.Ter672Ser) c.2525G>C (p.Ter842Ser) c.2186G>C (p.Ter729Ser) c.2534G>C (p.Ter845Ser) c.2241+401G>C (n.2241+401G>C) c.2205+401G>C (n.2205+401G>C) c.2564G>C (p.Ter855Ser) c.2133+401G>C (n.2133+401G>C) c.1680-5802G>C (n.1680-5802G>C) c.2660G>C (p.Ter887Ser) c.2726G>C (p.Ter909Ser) c.2723G>C (p.Ter908Ser) c.2696G>C (p.Ter899Ser) c.2642G>C (p.Ter881Ser) c.2615G>C (p.Ter872Ser) c.2600G>C (p.Ter867Ser) c.2207G>C (p.Ter736Ser) c.2669G>C (p.Ter890Ser) c.2606G>C (p.Ter869Ser) c.2603G>C (p.Ter868Ser) c.2561G>C (p.Ter854Ser) c.1634G>C (p.Ter545Ser)
20	g.63406645C>T	CA511339163	KCNQ2	c.2672G>A (p.Ter891=) c.2618G>A (p.Ter873=) c.2015G>A (p.Ter672=) c.2525G>A (p.Ter842=) c.2186G>A (p.Ter729=) c.2534G>A (p.Ter845=) c.2241+401G>A (n.2241+401G>A) c.2205+401G>A (n.2205+401G>A) c.2564G>A (p.Ter855=) c.2133+401G>A (n.2133+401G>A) c.1680-5802G>A (n.1680-5802G>A) c.2660G>A (p.Ter887=) c.2726G>A (p.Ter909=) c.2723G>A (p.Ter908=) c.2696G>A (p.Ter899=) c.2642G>A (p.Ter881=) c.2615G>A (p.Ter872=) c.2600G>A (p.Ter867=) c.2207G>A (p.Ter736=) c.2669G>A (p.Ter890=) c.2606G>A (p.Ter869=) c.2603G>A (p.Ter868=) c.2561G>A (p.Ter854=) c.1634G>A (p.Ter545=)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.63406646A>C	CA409636276	KCNQ2	c.2671T>G (p.Ter891Gly) c.2617T>G (p.Ter873Gly) c.2014T>G (p.Ter672Gly) c.2524T>G (p.Ter842Gly) c.2185T>G (p.Ter729Gly) c.2533T>G (p.Ter845Gly) c.2241+400T>G (n.2241+400T>G) c.2205+400T>G (n.2205+400T>G) c.2563T>G (p.Ter855Gly) c.2133+400T>G (n.2133+400T>G) c.1680-5803T>G (n.1680-5803T>G) c.2659T>G (p.Ter887Gly) c.2725T>G (p.Ter909Gly) c.2722T>G (p.Ter908Gly) c.2695T>G (p.Ter899Gly) c.2641T>G (p.Ter881Gly) c.2614T>G (p.Ter872Gly) c.2599T>G (p.Ter867Gly) c.2206T>G (p.Ter736Gly) c.2668T>G (p.Ter890Gly) c.2605T>G (p.Ter869Gly) c.2602T>G (p.Ter868Gly) c.2560T>G (p.Ter854Gly) c.1633T>G (p.Ter545Gly)
20	g.63406646A>G	CA409636281	KCNQ2	c.2671T>C (p.Ter891Arg) c.2617T>C (p.Ter873Arg) c.2014T>C (p.Ter672Arg) c.2524T>C (p.Ter842Arg) c.2185T>C (p.Ter729Arg) c.2533T>C (p.Ter845Arg) c.2241+400T>C (n.2241+400T>C) c.2205+400T>C (n.2205+400T>C) c.2563T>C (p.Ter855Arg) c.2133+400T>C (n.2133+400T>C) c.1680-5803T>C (n.1680-5803T>C) c.2659T>C (p.Ter887Arg) c.2725T>C (p.Ter909Arg) c.2722T>C (p.Ter908Arg) c.2695T>C (p.Ter899Arg) c.2641T>C (p.Ter881Arg) c.2614T>C (p.Ter872Arg) c.2599T>C (p.Ter867Arg) c.2206T>C (p.Ter736Arg) c.2668T>C (p.Ter890Arg) c.2605T>C (p.Ter869Arg) c.2602T>C (p.Ter868Arg) c.2560T>C (p.Ter854Arg) c.1633T>C (p.Ter545Arg)
20	g.63406646A>T	CA409636278	KCNQ2	c.2671T>A (p.Ter891Arg) c.2617T>A (p.Ter873Arg) c.2014T>A (p.Ter672Arg) c.2524T>A (p.Ter842Arg) c.2185T>A (p.Ter729Arg) c.2533T>A (p.Ter845Arg) c.2241+400T>A (n.2241+400T>A) c.2205+400T>A (n.2205+400T>A) c.2563T>A (p.Ter855Arg) c.2133+400T>A (n.2133+400T>A) c.1680-5803T>A (n.1680-5803T>A) c.2659T>A (p.Ter887Arg) c.2725T>A (p.Ter909Arg) c.2722T>A (p.Ter908Arg) c.2695T>A (p.Ter899Arg) c.2641T>A (p.Ter881Arg) c.2614T>A (p.Ter872Arg) c.2599T>A (p.Ter867Arg) c.2206T>A (p.Ter736Arg) c.2668T>A (p.Ter890Arg) c.2605T>A (p.Ter869Arg) c.2602T>A (p.Ter868Arg) c.2560T>A (p.Ter854Arg) c.1633T>A (p.Ter545Arg)
20	g.63406647C>A	CA409636284	KCNQ2	c.2670G>T (p.Lys890Asn) c.2616G>T (p.Lys872Asn) c.2013G>T (p.Lys671Asn) c.2523G>T (p.Lys841Asn) c.2184G>T (p.Lys728Asn) c.2532G>T (p.Lys844Asn) c.2241+399G>T (n.2241+399G>T) c.2205+399G>T (n.2205+399G>T) c.2562G>T (p.Lys854Asn) c.2133+399G>T (n.2133+399G>T) c.1680-5804G>T (n.1680-5804G>T) c.2658G>T (p.Lys886Asn) c.2724G>T (p.Lys908Asn) c.2721G>T (p.Lys907Asn) c.2694G>T (p.Lys898Asn) c.2640G>T (p.Lys880Asn) c.2613G>T (p.Lys871Asn) c.2598G>T (p.Lys866Asn) c.2205G>T (p.Lys735Asn) c.2667G>T (p.Lys889Asn) c.2604G>T (p.Lys868Asn) c.2601G>T (p.Lys867Asn) c.2559G>T (p.Lys853Asn) c.1632G>T (p.Lys544Asn)
20	g.63406647C=	CA2374774168	KCNQ2	c.2670G= (p.Lys890=) c.2616G= (p.Lys872=) c.2013G= (p.Lys671=) c.2523G= (p.Lys841=) c.2184G= (p.Lys728=) c.2532G= (p.Lys844=) c.2241+399G= (n.2241+399G=) c.2205+399G= (n.2205+399G=) c.2562G= (p.Lys854=) c.2133+399G= (n.2133+399G=) c.1680-5804G= (n.1680-5804G=) c.2658G= (p.Lys886=) c.2724G= (p.Lys908=) c.2721G= (p.Lys907=) c.2694G= (p.Lys898=) c.2640G= (p.Lys880=) c.2613G= (p.Lys871=) c.2598G= (p.Lys866=) c.2205G= (p.Lys735=) c.2667G= (p.Lys889=) c.2604G= (p.Lys868=) c.2601G= (p.Lys867=) c.2559G= (p.Lys853=) c.1632G= (p.Lys544=)
20	g.63406647C>G	CA409636286	KCNQ2	c.2670G>C (p.Lys890Asn) c.2616G>C (p.Lys872Asn) c.2013G>C (p.Lys671Asn) c.2523G>C (p.Lys841Asn) c.2184G>C (p.Lys728Asn) c.2532G>C (p.Lys844Asn) c.2241+399G>C (n.2241+399G>C) c.2205+399G>C (n.2205+399G>C) c.2562G>C (p.Lys854Asn) c.2133+399G>C (n.2133+399G>C) c.1680-5804G>C (n.1680-5804G>C) c.2658G>C (p.Lys886Asn) c.2724G>C (p.Lys908Asn) c.2721G>C (p.Lys907Asn) c.2694G>C (p.Lys898Asn) c.2640G>C (p.Lys880Asn) c.2613G>C (p.Lys871Asn) c.2598G>C (p.Lys866Asn) c.2205G>C (p.Lys735Asn) c.2667G>C (p.Lys889Asn) c.2604G>C (p.Lys868Asn) c.2601G>C (p.Lys867Asn) c.2559G>C (p.Lys853Asn) c.1632G>C (p.Lys544Asn)	ClinVar dbSNP gnomAD v2
20	g.63406647C>T	CA511339164	KCNQ2	c.2670G>A (p.Lys890=) c.2616G>A (p.Lys872=) c.2013G>A (p.Lys671=) c.2523G>A (p.Lys841=) c.2184G>A (p.Lys728=) c.2532G>A (p.Lys844=) c.2241+399G>A (n.2241+399G>A) c.2205+399G>A (n.2205+399G>A) c.2562G>A (p.Lys854=) c.2133+399G>A (n.2133+399G>A) c.1680-5804G>A (n.1680-5804G>A) c.2658G>A (p.Lys886=) c.2724G>A (p.Lys908=) c.2721G>A (p.Lys907=) c.2694G>A (p.Lys898=) c.2640G>A (p.Lys880=) c.2613G>A (p.Lys871=) c.2598G>A (p.Lys866=) c.2205G>A (p.Lys735=) c.2667G>A (p.Lys889=) c.2604G>A (p.Lys868=) c.2601G>A (p.Lys867=) c.2559G>A (p.Lys853=) c.1632G>A (p.Lys544=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406648T>A	CA409636289	KCNQ2	c.2669A>T (p.Lys890Met) c.2615A>T (p.Lys872Met) c.2012A>T (p.Lys671Met) c.2522A>T (p.Lys841Met) c.2183A>T (p.Lys728Met) c.2531A>T (p.Lys844Met) c.2241+398A>T (n.2241+398A>T) c.2205+398A>T (n.2205+398A>T) c.2561A>T (p.Lys854Met) c.2133+398A>T (n.2133+398A>T) c.1680-5805A>T (n.1680-5805A>T) c.2657A>T (p.Lys886Met) c.2723A>T (p.Lys908Met) c.2720A>T (p.Lys907Met) c.2693A>T (p.Lys898Met) c.2639A>T (p.Lys880Met) c.2612A>T (p.Lys871Met) c.2597A>T (p.Lys866Met) c.2204A>T (p.Lys735Met) c.2666A>T (p.Lys889Met) c.2603A>T (p.Lys868Met) c.2600A>T (p.Lys867Met) c.2558A>T (p.Lys853Met) c.1631A>T (p.Lys544Met)
20	g.63406648T>C	CA409636291	KCNQ2	c.2669A>G (p.Lys890Arg) c.2615A>G (p.Lys872Arg) c.2012A>G (p.Lys671Arg) c.2522A>G (p.Lys841Arg) c.2183A>G (p.Lys728Arg) c.2531A>G (p.Lys844Arg) c.2241+398A>G (n.2241+398A>G) c.2205+398A>G (n.2205+398A>G) c.2561A>G (p.Lys854Arg) c.2133+398A>G (n.2133+398A>G) c.1680-5805A>G (n.1680-5805A>G) c.2657A>G (p.Lys886Arg) c.2723A>G (p.Lys908Arg) c.2720A>G (p.Lys907Arg) c.2693A>G (p.Lys898Arg) c.2639A>G (p.Lys880Arg) c.2612A>G (p.Lys871Arg) c.2597A>G (p.Lys866Arg) c.2204A>G (p.Lys735Arg) c.2666A>G (p.Lys889Arg) c.2603A>G (p.Lys868Arg) c.2600A>G (p.Lys867Arg) c.2558A>G (p.Lys853Arg) c.1631A>G (p.Lys544Arg)
20	g.63406648T>G	CA409636293	KCNQ2	c.2669A>C (p.Lys890Thr) c.2615A>C (p.Lys872Thr) c.2012A>C (p.Lys671Thr) c.2522A>C (p.Lys841Thr) c.2183A>C (p.Lys728Thr) c.2531A>C (p.Lys844Thr) c.2241+398A>C (n.2241+398A>C) c.2205+398A>C (n.2205+398A>C) c.2561A>C (p.Lys854Thr) c.2133+398A>C (n.2133+398A>C) c.1680-5805A>C (n.1680-5805A>C) c.2657A>C (p.Lys886Thr) c.2723A>C (p.Lys908Thr) c.2720A>C (p.Lys907Thr) c.2693A>C (p.Lys898Thr) c.2639A>C (p.Lys880Thr) c.2612A>C (p.Lys871Thr) c.2597A>C (p.Lys866Thr) c.2204A>C (p.Lys735Thr) c.2666A>C (p.Lys889Thr) c.2603A>C (p.Lys868Thr) c.2600A>C (p.Lys867Thr) c.2558A>C (p.Lys853Thr) c.1631A>C (p.Lys544Thr)	gnomAD v4
20	g.63406648_63406653delinsTTCCTG	CA2374774169	KCNQ2	c.2664_2669delinsCAGGAA (p.Pro888=) c.2610_2615delinsCAGGAA (p.Pro870=) c.2007_2012delinsCAGGAA (p.Pro669=) c.2517_2522delinsCAGGAA (p.Pro839=) c.2178_2183delinsCAGGAA (p.Pro726=) c.2526_2531delinsCAGGAA (p.Pro842=) c.2241+393_2241+398delinsCAGGAA (n.2241+393_2241+398delinsCAGGAA) c.2205+393_2205+398delinsCAGGAA (n.2205+393_2205+398delinsCAGGAA) c.2556_2561delinsCAGGAA (p.Pro852=) c.2133+393_2133+398delinsCAGGAA (n.2133+393_2133+398delinsCAGGAA) c.1680-5810_1680-5805delinsCAGGAA (n.1680-5810_1680-5805delinsCAGGAA) c.2652_2657delinsCAGGAA (p.Pro884=) c.2718_2723delinsCAGGAA (p.Pro906=) c.2715_2720delinsCAGGAA (p.Pro905=) c.2688_2693delinsCAGGAA (p.Pro896=) c.2634_2639delinsCAGGAA (p.Pro878=) c.2607_2612delinsCAGGAA (p.Pro869=) c.2592_2597delinsCAGGAA (p.Pro864=) c.2199_2204delinsCAGGAA (p.Pro733=) c.2661_2666delinsCAGGAA (p.Pro887=) c.2598_2603delinsCAGGAA (p.Pro866=) c.2595_2600delinsCAGGAA (p.Pro865=) c.2553_2558delinsCAGGAA (p.Pro851=) c.1626_1631delinsCAGGAA (p.Pro542=)
20	g.63406649T>A	CA409636299	KCNQ2	c.2668A>T (p.Lys890Ter) c.2614A>T (p.Lys872Ter) c.2011A>T (p.Lys671Ter) c.2521A>T (p.Lys841Ter) c.2182A>T (p.Lys728Ter) c.2530A>T (p.Lys844Ter) c.2241+397A>T (n.2241+397A>T) c.2205+397A>T (n.2205+397A>T) c.2560A>T (p.Lys854Ter) c.2133+397A>T (n.2133+397A>T) c.1680-5806A>T (n.1680-5806A>T) c.2656A>T (p.Lys886Ter) c.2722A>T (p.Lys908Ter) c.2719A>T (p.Lys907Ter) c.2692A>T (p.Lys898Ter) c.2638A>T (p.Lys880Ter) c.2611A>T (p.Lys871Ter) c.2596A>T (p.Lys866Ter) c.2203A>T (p.Lys735Ter) c.2665A>T (p.Lys889Ter) c.2602A>T (p.Lys868Ter) c.2599A>T (p.Lys867Ter) c.2557A>T (p.Lys853Ter) c.1630A>T (p.Lys544Ter)
20	g.63406649T>C	CA409636301	KCNQ2	c.2668A>G (p.Lys890Glu) c.2614A>G (p.Lys872Glu) c.2011A>G (p.Lys671Glu) c.2521A>G (p.Lys841Glu) c.2182A>G (p.Lys728Glu) c.2530A>G (p.Lys844Glu) c.2241+397A>G (n.2241+397A>G) c.2205+397A>G (n.2205+397A>G) c.2560A>G (p.Lys854Glu) c.2133+397A>G (n.2133+397A>G) c.1680-5806A>G (n.1680-5806A>G) c.2656A>G (p.Lys886Glu) c.2722A>G (p.Lys908Glu) c.2719A>G (p.Lys907Glu) c.2692A>G (p.Lys898Glu) c.2638A>G (p.Lys880Glu) c.2611A>G (p.Lys871Glu) c.2596A>G (p.Lys866Glu) c.2203A>G (p.Lys735Glu) c.2665A>G (p.Lys889Glu) c.2602A>G (p.Lys868Glu) c.2599A>G (p.Lys867Glu) c.2557A>G (p.Lys853Glu) c.1630A>G (p.Lys544Glu)
20	g.63406649T>G	CA409636305	KCNQ2	c.2668A>C (p.Lys890Gln) c.2614A>C (p.Lys872Gln) c.2011A>C (p.Lys671Gln) c.2521A>C (p.Lys841Gln) c.2182A>C (p.Lys728Gln) c.2530A>C (p.Lys844Gln) c.2241+397A>C (n.2241+397A>C) c.2205+397A>C (n.2205+397A>C) c.2560A>C (p.Lys854Gln) c.2133+397A>C (n.2133+397A>C) c.1680-5806A>C (n.1680-5806A>C) c.2656A>C (p.Lys886Gln) c.2722A>C (p.Lys908Gln) c.2719A>C (p.Lys907Gln) c.2692A>C (p.Lys898Gln) c.2638A>C (p.Lys880Gln) c.2611A>C (p.Lys871Gln) c.2596A>C (p.Lys866Gln) c.2203A>C (p.Lys735Gln) c.2665A>C (p.Lys889Gln) c.2602A>C (p.Lys868Gln) c.2599A>C (p.Lys867Gln) c.2557A>C (p.Lys853Gln) c.1630A>C (p.Lys544Gln)
20	g.63406649_63406653del	CA2374774170	KCNQ2	c.2664_2668del (p.Arg889ValfsTer?) c.2610_2614del (p.Arg871ValfsTer?) c.2007_2011del (p.Arg670ValfsTer?) c.2517_2521del (p.Arg840ValfsTer?) c.2178_2182del (p.Arg727ValfsTer?) c.2526_2530del (p.Arg843ValfsTer?) c.2241+393_2241+397del (n.2241+393_2241+397del) c.2205+393_2205+397del (n.2205+393_2205+397del) c.2556_2560del (p.Arg853ValfsTer?) c.2133+393_2133+397del (n.2133+393_2133+397del) c.1680-5810_1680-5806del (n.1680-5810_1680-5806del) c.2652_2656del (p.Arg885ValfsTer?) c.2718_2722del (p.Arg907ValfsTer?) c.2715_2719del (p.Arg906ValfsTer?) c.2688_2692del (p.Arg897ValfsTer?) c.2634_2638del (p.Arg879ValfsTer?) c.2607_2611del (p.Arg870ValfsTer?) c.2592_2596del (p.Arg865ValfsTer?) c.2199_2203del (p.Arg734ValfsTer?) c.2661_2665del (p.Arg888ValfsTer?) c.2598_2602del (p.Arg867ValfsTer?) c.2595_2599del (p.Arg866ValfsTer?) c.2553_2557del (p.Arg852ValfsTer?) c.1626_1630del (p.Arg543ValfsTer?)	dbSNP
20	g.63406650C>A	CA288935	KCNQ2	c.2667G>T (p.Arg889Ser) c.2613G>T (p.Arg871Ser) c.2010G>T (p.Arg670Ser) c.2520G>T (p.Arg840Ser) c.2181G>T (p.Arg727Ser) c.2529G>T (p.Arg843Ser) c.2241+396G>T (n.2241+396G>T) c.2205+396G>T (n.2205+396G>T) c.2559G>T (p.Arg853Ser) c.2133+396G>T (n.2133+396G>T) c.1680-5807G>T (n.1680-5807G>T) c.2655G>T (p.Arg885Ser) c.2721G>T (p.Arg907Ser) c.2718G>T (p.Arg906Ser) c.2691G>T (p.Arg897Ser) c.2637G>T (p.Arg879Ser) c.2610G>T (p.Arg870Ser) c.2595G>T (p.Arg865Ser) c.2202G>T (p.Arg734Ser) c.2664G>T (p.Arg888Ser) c.2601G>T (p.Arg867Ser) c.2598G>T (p.Arg866Ser) c.2556G>T (p.Arg852Ser) c.1629G>T (p.Arg543Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406650C=	CA2374774171	KCNQ2	c.2667G= (p.Arg889=) c.2613G= (p.Arg871=) c.2010G= (p.Arg670=) c.2520G= (p.Arg840=) c.2181G= (p.Arg727=) c.2529G= (p.Arg843=) c.2241+396G= (n.2241+396G=) c.2205+396G= (n.2205+396G=) c.2559G= (p.Arg853=) c.2133+396G= (n.2133+396G=) c.1680-5807G= (n.1680-5807G=) c.2655G= (p.Arg885=) c.2721G= (p.Arg907=) c.2718G= (p.Arg906=) c.2691G= (p.Arg897=) c.2637G= (p.Arg879=) c.2610G= (p.Arg870=) c.2595G= (p.Arg865=) c.2202G= (p.Arg734=) c.2664G= (p.Arg888=) c.2601G= (p.Arg867=) c.2598G= (p.Arg866=) c.2556G= (p.Arg852=) c.1629G= (p.Arg543=)
20	g.63406650C>G	CA409636308	KCNQ2	c.2667G>C (p.Arg889Ser) c.2613G>C (p.Arg871Ser) c.2010G>C (p.Arg670Ser) c.2520G>C (p.Arg840Ser) c.2181G>C (p.Arg727Ser) c.2529G>C (p.Arg843Ser) c.2241+396G>C (n.2241+396G>C) c.2205+396G>C (n.2205+396G>C) c.2559G>C (p.Arg853Ser) c.2133+396G>C (n.2133+396G>C) c.1680-5807G>C (n.1680-5807G>C) c.2655G>C (p.Arg885Ser) c.2721G>C (p.Arg907Ser) c.2718G>C (p.Arg906Ser) c.2691G>C (p.Arg897Ser) c.2637G>C (p.Arg879Ser) c.2610G>C (p.Arg870Ser) c.2595G>C (p.Arg865Ser) c.2202G>C (p.Arg734Ser) c.2664G>C (p.Arg888Ser) c.2601G>C (p.Arg867Ser) c.2598G>C (p.Arg866Ser) c.2556G>C (p.Arg852Ser) c.1629G>C (p.Arg543Ser)
20	g.63406650C>T	CA511339165	KCNQ2	c.2667G>A (p.Arg889=) c.2613G>A (p.Arg871=) c.2010G>A (p.Arg670=) c.2520G>A (p.Arg840=) c.2181G>A (p.Arg727=) c.2529G>A (p.Arg843=) c.2241+396G>A (n.2241+396G>A) c.2205+396G>A (n.2205+396G>A) c.2559G>A (p.Arg853=) c.2133+396G>A (n.2133+396G>A) c.1680-5807G>A (n.1680-5807G>A) c.2655G>A (p.Arg885=) c.2721G>A (p.Arg907=) c.2718G>A (p.Arg906=) c.2691G>A (p.Arg897=) c.2637G>A (p.Arg879=) c.2610G>A (p.Arg870=) c.2595G>A (p.Arg865=) c.2202G>A (p.Arg734=) c.2664G>A (p.Arg888=) c.2601G>A (p.Arg867=) c.2598G>A (p.Arg866=) c.2556G>A (p.Arg852=) c.1629G>A (p.Arg543=)
20	g.63406651C>A	CA409636312	KCNQ2	c.2666G>T (p.Arg889Met) c.2612G>T (p.Arg871Met) c.2009G>T (p.Arg670Met) c.2519G>T (p.Arg840Met) c.2180G>T (p.Arg727Met) c.2528G>T (p.Arg843Met) c.2241+395G>T (n.2241+395G>T) c.2205+395G>T (n.2205+395G>T) c.2558G>T (p.Arg853Met) c.2133+395G>T (n.2133+395G>T) c.1680-5808G>T (n.1680-5808G>T) c.2654G>T (p.Arg885Met) c.2720G>T (p.Arg907Met) c.2717G>T (p.Arg906Met) c.2690G>T (p.Arg897Met) c.2636G>T (p.Arg879Met) c.2609G>T (p.Arg870Met) c.2594G>T (p.Arg865Met) c.2201G>T (p.Arg734Met) c.2663G>T (p.Arg888Met) c.2600G>T (p.Arg867Met) c.2597G>T (p.Arg866Met) c.2555G>T (p.Arg852Met) c.1628G>T (p.Arg543Met)
20	g.63406651C=	CA2374774172	KCNQ2	c.2666G= (p.Arg889=) c.2612G= (p.Arg871=) c.2009G= (p.Arg670=) c.2519G= (p.Arg840=) c.2180G= (p.Arg727=) c.2528G= (p.Arg843=) c.2241+395G= (n.2241+395G=) c.2205+395G= (n.2205+395G=) c.2558G= (p.Arg853=) c.2133+395G= (n.2133+395G=) c.1680-5808G= (n.1680-5808G=) c.2654G= (p.Arg885=) c.2720G= (p.Arg907=) c.2717G= (p.Arg906=) c.2690G= (p.Arg897=) c.2636G= (p.Arg879=) c.2609G= (p.Arg870=) c.2594G= (p.Arg865=) c.2201G= (p.Arg734=) c.2663G= (p.Arg888=) c.2600G= (p.Arg867=) c.2597G= (p.Arg866=) c.2555G= (p.Arg852=) c.1628G= (p.Arg543=)
20	g.63406651C>G	CA409636314	KCNQ2	c.2666G>C (p.Arg889Thr) c.2612G>C (p.Arg871Thr) c.2009G>C (p.Arg670Thr) c.2519G>C (p.Arg840Thr) c.2180G>C (p.Arg727Thr) c.2528G>C (p.Arg843Thr) c.2241+395G>C (n.2241+395G>C) c.2205+395G>C (n.2205+395G>C) c.2558G>C (p.Arg853Thr) c.2133+395G>C (n.2133+395G>C) c.1680-5808G>C (n.1680-5808G>C) c.2654G>C (p.Arg885Thr) c.2720G>C (p.Arg907Thr) c.2717G>C (p.Arg906Thr) c.2690G>C (p.Arg897Thr) c.2636G>C (p.Arg879Thr) c.2609G>C (p.Arg870Thr) c.2594G>C (p.Arg865Thr) c.2201G>C (p.Arg734Thr) c.2663G>C (p.Arg888Thr) c.2600G>C (p.Arg867Thr) c.2597G>C (p.Arg866Thr) c.2555G>C (p.Arg852Thr) c.1628G>C (p.Arg543Thr)
20	g.63406651C>T	CA409636316	KCNQ2	c.2666G>A (p.Arg889Lys) c.2612G>A (p.Arg871Lys) c.2009G>A (p.Arg670Lys) c.2519G>A (p.Arg840Lys) c.2180G>A (p.Arg727Lys) c.2528G>A (p.Arg843Lys) c.2241+395G>A (n.2241+395G>A) c.2205+395G>A (n.2205+395G>A) c.2558G>A (p.Arg853Lys) c.2133+395G>A (n.2133+395G>A) c.1680-5808G>A (n.1680-5808G>A) c.2654G>A (p.Arg885Lys) c.2720G>A (p.Arg907Lys) c.2717G>A (p.Arg906Lys) c.2690G>A (p.Arg897Lys) c.2636G>A (p.Arg879Lys) c.2609G>A (p.Arg870Lys) c.2594G>A (p.Arg865Lys) c.2201G>A (p.Arg734Lys) c.2663G>A (p.Arg888Lys) c.2600G>A (p.Arg867Lys) c.2597G>A (p.Arg866Lys) c.2555G>A (p.Arg852Lys) c.1628G>A (p.Arg543Lys)	ClinVar dbSNP
20	g.63406652T>A	CA409636318	KCNQ2	c.2665A>T (p.Arg889Trp) c.2611A>T (p.Arg871Trp) c.2008A>T (p.Arg670Trp) c.2518A>T (p.Arg840Trp) c.2179A>T (p.Arg727Trp) c.2527A>T (p.Arg843Trp) c.2241+394A>T (n.2241+394A>T) c.2205+394A>T (n.2205+394A>T) c.2557A>T (p.Arg853Trp) c.2133+394A>T (n.2133+394A>T) c.1680-5809A>T (n.1680-5809A>T) c.2653A>T (p.Arg885Trp) c.2719A>T (p.Arg907Trp) c.2716A>T (p.Arg906Trp) c.2689A>T (p.Arg897Trp) c.2635A>T (p.Arg879Trp) c.2608A>T (p.Arg870Trp) c.2593A>T (p.Arg865Trp) c.2200A>T (p.Arg734Trp) c.2662A>T (p.Arg888Trp) c.2599A>T (p.Arg867Trp) c.2596A>T (p.Arg866Trp) c.2554A>T (p.Arg852Trp) c.1627A>T (p.Arg543Trp)
20	g.63406652T>C	CA317421425	KCNQ2	c.2665A>G (p.Arg889Gly) c.2611A>G (p.Arg871Gly) c.2008A>G (p.Arg670Gly) c.2518A>G (p.Arg840Gly) c.2179A>G (p.Arg727Gly) c.2527A>G (p.Arg843Gly) c.2241+394A>G (n.2241+394A>G) c.2205+394A>G (n.2205+394A>G) c.2557A>G (p.Arg853Gly) c.2133+394A>G (n.2133+394A>G) c.1680-5809A>G (n.1680-5809A>G) c.2653A>G (p.Arg885Gly) c.2719A>G (p.Arg907Gly) c.2716A>G (p.Arg906Gly) c.2689A>G (p.Arg897Gly) c.2635A>G (p.Arg879Gly) c.2608A>G (p.Arg870Gly) c.2593A>G (p.Arg865Gly) c.2200A>G (p.Arg734Gly) c.2662A>G (p.Arg888Gly) c.2599A>G (p.Arg867Gly) c.2596A>G (p.Arg866Gly) c.2554A>G (p.Arg852Gly) c.1627A>G (p.Arg543Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406652T>G	CA511339166	KCNQ2	c.2665A>C (p.Arg889=) c.2611A>C (p.Arg871=) c.2008A>C (p.Arg670=) c.2518A>C (p.Arg840=) c.2179A>C (p.Arg727=) c.2527A>C (p.Arg843=) c.2241+394A>C (n.2241+394A>C) c.2205+394A>C (n.2205+394A>C) c.2557A>C (p.Arg853=) c.2133+394A>C (n.2133+394A>C) c.1680-5809A>C (n.1680-5809A>C) c.2653A>C (p.Arg885=) c.2719A>C (p.Arg907=) c.2716A>C (p.Arg906=) c.2689A>C (p.Arg897=) c.2635A>C (p.Arg879=) c.2608A>C (p.Arg870=) c.2593A>C (p.Arg865=) c.2200A>C (p.Arg734=) c.2662A>C (p.Arg888=) c.2599A>C (p.Arg867=) c.2596A>C (p.Arg866=) c.2554A>C (p.Arg852=) c.1627A>C (p.Arg543=)
20	g.63406652T=	CA2374774173	KCNQ2	c.2665A= (p.Arg889=) c.2611A= (p.Arg871=) c.2008A= (p.Arg670=) c.2518A= (p.Arg840=) c.2179A= (p.Arg727=) c.2527A= (p.Arg843=) c.2241+394A= (n.2241+394A=) c.2205+394A= (n.2205+394A=) c.2557A= (p.Arg853=) c.2133+394A= (n.2133+394A=) c.1680-5809A= (n.1680-5809A=) c.2653A= (p.Arg885=) c.2719A= (p.Arg907=) c.2716A= (p.Arg906=) c.2689A= (p.Arg897=) c.2635A= (p.Arg879=) c.2608A= (p.Arg870=) c.2593A= (p.Arg865=) c.2200A= (p.Arg734=) c.2662A= (p.Arg888=) c.2599A= (p.Arg867=) c.2596A= (p.Arg866=) c.2554A= (p.Arg852=) c.1627A= (p.Arg543=)
20	g.63406653G>A	CA511339169	KCNQ2	c.2664C>T (p.Pro888=) c.2610C>T (p.Pro870=) c.2007C>T (p.Pro669=) c.2517C>T (p.Pro839=) c.2178C>T (p.Pro726=) c.2526C>T (p.Pro842=) c.2241+393C>T (n.2241+393C>T) c.2205+393C>T (n.2205+393C>T) c.2556C>T (p.Pro852=) c.2133+393C>T (n.2133+393C>T) c.1680-5810C>T (n.1680-5810C>T) c.2652C>T (p.Pro884=) c.2718C>T (p.Pro906=) c.2715C>T (p.Pro905=) c.2688C>T (p.Pro896=) c.2634C>T (p.Pro878=) c.2607C>T (p.Pro869=) c.2592C>T (p.Pro864=) c.2199C>T (p.Pro733=) c.2661C>T (p.Pro887=) c.2598C>T (p.Pro866=) c.2595C>T (p.Pro865=) c.2553C>T (p.Pro851=) c.1626C>T (p.Pro542=)	dbSNP gnomAD v2
20	g.63406653G>C	CA511339167	KCNQ2	c.2664C>G (p.Pro888=) c.2610C>G (p.Pro870=) c.2007C>G (p.Pro669=) c.2517C>G (p.Pro839=) c.2178C>G (p.Pro726=) c.2526C>G (p.Pro842=) c.2241+393C>G (n.2241+393C>G) c.2205+393C>G (n.2205+393C>G) c.2556C>G (p.Pro852=) c.2133+393C>G (n.2133+393C>G) c.1680-5810C>G (n.1680-5810C>G) c.2652C>G (p.Pro884=) c.2718C>G (p.Pro906=) c.2715C>G (p.Pro905=) c.2688C>G (p.Pro896=) c.2634C>G (p.Pro878=) c.2607C>G (p.Pro869=) c.2592C>G (p.Pro864=) c.2199C>G (p.Pro733=) c.2661C>G (p.Pro887=) c.2598C>G (p.Pro866=) c.2595C>G (p.Pro865=) c.2553C>G (p.Pro851=) c.1626C>G (p.Pro542=)
20	g.63406653G=	CA2374774174	KCNQ2	c.2664C= (p.Pro888=) c.2610C= (p.Pro870=) c.2007C= (p.Pro669=) c.2517C= (p.Pro839=) c.2178C= (p.Pro726=) c.2526C= (p.Pro842=) c.2241+393C= (n.2241+393C=) c.2205+393C= (n.2205+393C=) c.2556C= (p.Pro852=) c.2133+393C= (n.2133+393C=) c.1680-5810C= (n.1680-5810C=) c.2652C= (p.Pro884=) c.2718C= (p.Pro906=) c.2715C= (p.Pro905=) c.2688C= (p.Pro896=) c.2634C= (p.Pro878=) c.2607C= (p.Pro869=) c.2592C= (p.Pro864=) c.2199C= (p.Pro733=) c.2661C= (p.Pro887=) c.2598C= (p.Pro866=) c.2595C= (p.Pro865=) c.2553C= (p.Pro851=) c.1626C= (p.Pro542=)
20	g.63406653G>T	CA511339168	KCNQ2	c.2664C>A (p.Pro888=) c.2610C>A (p.Pro870=) c.2007C>A (p.Pro669=) c.2517C>A (p.Pro839=) c.2178C>A (p.Pro726=) c.2526C>A (p.Pro842=) c.2241+393C>A (n.2241+393C>A) c.2205+393C>A (n.2205+393C>A) c.2556C>A (p.Pro852=) c.2133+393C>A (n.2133+393C>A) c.1680-5810C>A (n.1680-5810C>A) c.2652C>A (p.Pro884=) c.2718C>A (p.Pro906=) c.2715C>A (p.Pro905=) c.2688C>A (p.Pro896=) c.2634C>A (p.Pro878=) c.2607C>A (p.Pro869=) c.2592C>A (p.Pro864=) c.2199C>A (p.Pro733=) c.2661C>A (p.Pro887=) c.2598C>A (p.Pro866=) c.2595C>A (p.Pro865=) c.2553C>A (p.Pro851=) c.1626C>A (p.Pro542=)	gnomAD v4
20	g.63406654G>A	CA409636329	KCNQ2	c.2663C>T (p.Pro888Leu) c.2609C>T (p.Pro870Leu) c.2006C>T (p.Pro669Leu) c.2516C>T (p.Pro839Leu) c.2177C>T (p.Pro726Leu) c.2525C>T (p.Pro842Leu) c.2241+392C>T (n.2241+392C>T) c.2205+392C>T (n.2205+392C>T) c.2555C>T (p.Pro852Leu) c.2133+392C>T (n.2133+392C>T) c.1680-5811C>T (n.1680-5811C>T) c.2651C>T (p.Pro884Leu) c.2717C>T (p.Pro906Leu) c.2714C>T (p.Pro905Leu) c.2687C>T (p.Pro896Leu) c.2633C>T (p.Pro878Leu) c.2606C>T (p.Pro869Leu) c.2591C>T (p.Pro864Leu) c.2198C>T (p.Pro733Leu) c.2660C>T (p.Pro887Leu) c.2597C>T (p.Pro866Leu) c.2594C>T (p.Pro865Leu) c.2552C>T (p.Pro851Leu) c.1625C>T (p.Pro542Leu)
20	g.63406654G>C	CA317421442	KCNQ2	c.2663C>G (p.Pro888Arg) c.2609C>G (p.Pro870Arg) c.2006C>G (p.Pro669Arg) c.2516C>G (p.Pro839Arg) c.2177C>G (p.Pro726Arg) c.2525C>G (p.Pro842Arg) c.2241+392C>G (n.2241+392C>G) c.2205+392C>G (n.2205+392C>G) c.2555C>G (p.Pro852Arg) c.2133+392C>G (n.2133+392C>G) c.1680-5811C>G (n.1680-5811C>G) c.2651C>G (p.Pro884Arg) c.2717C>G (p.Pro906Arg) c.2714C>G (p.Pro905Arg) c.2687C>G (p.Pro896Arg) c.2633C>G (p.Pro878Arg) c.2606C>G (p.Pro869Arg) c.2591C>G (p.Pro864Arg) c.2198C>G (p.Pro733Arg) c.2660C>G (p.Pro887Arg) c.2597C>G (p.Pro866Arg) c.2594C>G (p.Pro865Arg) c.2552C>G (p.Pro851Arg) c.1625C>G (p.Pro542Arg)	dbSNP
20	g.63406654G=	CA2374774175	KCNQ2	c.2663C= (p.Pro888=) c.2609C= (p.Pro870=) c.2006C= (p.Pro669=) c.2516C= (p.Pro839=) c.2177C= (p.Pro726=) c.2525C= (p.Pro842=) c.2241+392C= (n.2241+392C=) c.2205+392C= (n.2205+392C=) c.2555C= (p.Pro852=) c.2133+392C= (n.2133+392C=) c.1680-5811C= (n.1680-5811C=) c.2651C= (p.Pro884=) c.2717C= (p.Pro906=) c.2714C= (p.Pro905=) c.2687C= (p.Pro896=) c.2633C= (p.Pro878=) c.2606C= (p.Pro869=) c.2591C= (p.Pro864=) c.2198C= (p.Pro733=) c.2660C= (p.Pro887=) c.2597C= (p.Pro866=) c.2594C= (p.Pro865=) c.2552C= (p.Pro851=) c.1625C= (p.Pro542=)
20	g.63406654G>T	CA409636333	KCNQ2	c.2663C>A (p.Pro888His) c.2609C>A (p.Pro870His) c.2006C>A (p.Pro669His) c.2516C>A (p.Pro839His) c.2177C>A (p.Pro726His) c.2525C>A (p.Pro842His) c.2241+392C>A (n.2241+392C>A) c.2205+392C>A (n.2205+392C>A) c.2555C>A (p.Pro852His) c.2133+392C>A (n.2133+392C>A) c.1680-5811C>A (n.1680-5811C>A) c.2651C>A (p.Pro884His) c.2717C>A (p.Pro906His) c.2714C>A (p.Pro905His) c.2687C>A (p.Pro896His) c.2633C>A (p.Pro878His) c.2606C>A (p.Pro869His) c.2591C>A (p.Pro864His) c.2198C>A (p.Pro733His) c.2660C>A (p.Pro887His) c.2597C>A (p.Pro866His) c.2594C>A (p.Pro865His) c.2552C>A (p.Pro851His) c.1625C>A (p.Pro542His)	gnomAD v4
20	g.63406659_63406663dup	CA342497	KCNQ2	c.2659_2663dup (p.Arg889GlyfsTer?) c.2605_2609dup (p.Arg871GlyfsTer?) c.2002_2006dup (p.Arg670GlyfsTer?) c.2512_2516dup (p.Arg840GlyfsTer?) c.2173_2177dup (p.Arg727GlyfsTer?) c.2521_2525dup (p.Arg843GlyfsTer?) c.2241+388_2241+392dup (n.2241+388_2241+392dup) c.2205+388_2205+392dup (n.2205+388_2205+392dup) c.2551_2555dup (p.Arg853GlyfsTer?) c.2133+388_2133+392dup (n.2133+388_2133+392dup) c.1680-5815_1680-5811dup (n.1680-5815_1680-5811dup) c.2647_2651dup (p.Arg885GlyfsTer?) c.2713_2717dup (p.Arg907GlyfsTer?) c.2710_2714dup (p.Arg906GlyfsTer?) c.2683_2687dup (p.Arg897GlyfsTer?) c.2629_2633dup (p.Arg879GlyfsTer?) c.2602_2606dup (p.Arg870GlyfsTer?) c.2587_2591dup (p.Arg865GlyfsTer?) c.2194_2198dup (p.Arg734GlyfsTer?) c.2656_2660dup (p.Arg888GlyfsTer?) c.2593_2597dup (p.Arg867GlyfsTer?) c.2590_2594dup (p.Arg866GlyfsTer?) c.2548_2552dup (p.Arg852GlyfsTer?) c.1621_1625dup (p.Arg543GlyfsTer?)	ClinVar dbSNP
20	g.63406655G>A	CA409636340	KCNQ2	c.2662C>T (p.Pro888Ser) c.2608C>T (p.Pro870Ser) c.2005C>T (p.Pro669Ser) c.2515C>T (p.Pro839Ser) c.2176C>T (p.Pro726Ser) c.2524C>T (p.Pro842Ser) c.2241+391C>T (n.2241+391C>T) c.2205+391C>T (n.2205+391C>T) c.2554C>T (p.Pro852Ser) c.2133+391C>T (n.2133+391C>T) c.1680-5812C>T (n.1680-5812C>T) c.2650C>T (p.Pro884Ser) c.2716C>T (p.Pro906Ser) c.2713C>T (p.Pro905Ser) c.2686C>T (p.Pro896Ser) c.2632C>T (p.Pro878Ser) c.2605C>T (p.Pro869Ser) c.2590C>T (p.Pro864Ser) c.2197C>T (p.Pro733Ser) c.2659C>T (p.Pro887Ser) c.2596C>T (p.Pro866Ser) c.2593C>T (p.Pro865Ser) c.2551C>T (p.Pro851Ser) c.1624C>T (p.Pro542Ser)	ClinVar gnomAD v4
20	g.63406655G>C	CA409636344	KCNQ2	c.2662C>G (p.Pro888Ala) c.2608C>G (p.Pro870Ala) c.2005C>G (p.Pro669Ala) c.2515C>G (p.Pro839Ala) c.2176C>G (p.Pro726Ala) c.2524C>G (p.Pro842Ala) c.2241+391C>G (n.2241+391C>G) c.2205+391C>G (n.2205+391C>G) c.2554C>G (p.Pro852Ala) c.2133+391C>G (n.2133+391C>G) c.1680-5812C>G (n.1680-5812C>G) c.2650C>G (p.Pro884Ala) c.2716C>G (p.Pro906Ala) c.2713C>G (p.Pro905Ala) c.2686C>G (p.Pro896Ala) c.2632C>G (p.Pro878Ala) c.2605C>G (p.Pro869Ala) c.2590C>G (p.Pro864Ala) c.2197C>G (p.Pro733Ala) c.2659C>G (p.Pro887Ala) c.2596C>G (p.Pro866Ala) c.2593C>G (p.Pro865Ala) c.2551C>G (p.Pro851Ala) c.1624C>G (p.Pro542Ala)
20	g.63406655G>T	CA409636346	KCNQ2	c.2662C>A (p.Pro888Thr) c.2608C>A (p.Pro870Thr) c.2005C>A (p.Pro669Thr) c.2515C>A (p.Pro839Thr) c.2176C>A (p.Pro726Thr) c.2524C>A (p.Pro842Thr) c.2241+391C>A (n.2241+391C>A) c.2205+391C>A (n.2205+391C>A) c.2554C>A (p.Pro852Thr) c.2133+391C>A (n.2133+391C>A) c.1680-5812C>A (n.1680-5812C>A) c.2650C>A (p.Pro884Thr) c.2716C>A (p.Pro906Thr) c.2713C>A (p.Pro905Thr) c.2686C>A (p.Pro896Thr) c.2632C>A (p.Pro878Thr) c.2605C>A (p.Pro869Thr) c.2590C>A (p.Pro864Thr) c.2197C>A (p.Pro733Thr) c.2659C>A (p.Pro887Thr) c.2596C>A (p.Pro866Thr) c.2593C>A (p.Pro865Thr) c.2551C>A (p.Pro851Thr) c.1624C>A (p.Pro542Thr)	gnomAD v4
20	g.63406656C>A	CA511339170	KCNQ2	c.2661G>T (p.Gly887=) c.2607G>T (p.Gly869=) c.2004G>T (p.Gly668=) c.2514G>T (p.Gly838=) c.2175G>T (p.Gly725=) c.2523G>T (p.Gly841=) c.2241+390G>T (n.2241+390G>T) c.2205+390G>T (n.2205+390G>T) c.2553G>T (p.Gly851=) c.2133+390G>T (n.2133+390G>T) c.1680-5813G>T (n.1680-5813G>T) c.2649G>T (p.Gly883=) c.2715G>T (p.Gly905=) c.2712G>T (p.Gly904=) c.2685G>T (p.Gly895=) c.2631G>T (p.Gly877=) c.2604G>T (p.Gly868=) c.2589G>T (p.Gly863=) c.2196G>T (p.Gly732=) c.2658G>T (p.Gly886=) c.2595G>T (p.Gly865=) c.2592G>T (p.Gly864=) c.2550G>T (p.Gly850=) c.1623G>T (p.Gly541=)	gnomAD v4
20	g.63406656C=	CA2374774176	KCNQ2	c.2661G= (p.Gly887=) c.2607G= (p.Gly869=) c.2004G= (p.Gly668=) c.2514G= (p.Gly838=) c.2175G= (p.Gly725=) c.2523G= (p.Gly841=) c.2241+390G= (n.2241+390G=) c.2205+390G= (n.2205+390G=) c.2553G= (p.Gly851=) c.2133+390G= (n.2133+390G=) c.1680-5813G= (n.1680-5813G=) c.2649G= (p.Gly883=) c.2715G= (p.Gly905=) c.2712G= (p.Gly904=) c.2685G= (p.Gly895=) c.2631G= (p.Gly877=) c.2604G= (p.Gly868=) c.2589G= (p.Gly863=) c.2196G= (p.Gly732=) c.2658G= (p.Gly886=) c.2595G= (p.Gly865=) c.2592G= (p.Gly864=) c.2550G= (p.Gly850=) c.1623G= (p.Gly541=)
20	g.63406656C>G	CA511339171	KCNQ2	c.2661G>C (p.Gly887=) c.2607G>C (p.Gly869=) c.2004G>C (p.Gly668=) c.2514G>C (p.Gly838=) c.2175G>C (p.Gly725=) c.2523G>C (p.Gly841=) c.2241+390G>C (n.2241+390G>C) c.2205+390G>C (n.2205+390G>C) c.2553G>C (p.Gly851=) c.2133+390G>C (n.2133+390G>C) c.1680-5813G>C (n.1680-5813G>C) c.2649G>C (p.Gly883=) c.2715G>C (p.Gly905=) c.2712G>C (p.Gly904=) c.2685G>C (p.Gly895=) c.2631G>C (p.Gly877=) c.2604G>C (p.Gly868=) c.2589G>C (p.Gly863=) c.2196G>C (p.Gly732=) c.2658G>C (p.Gly886=) c.2595G>C (p.Gly865=) c.2592G>C (p.Gly864=) c.2550G>C (p.Gly850=) c.1623G>C (p.Gly541=)	ClinVar
20	g.63406656C>T	CA511339172	KCNQ2	c.2661G>A (p.Gly887=) c.2607G>A (p.Gly869=) c.2004G>A (p.Gly668=) c.2514G>A (p.Gly838=) c.2175G>A (p.Gly725=) c.2523G>A (p.Gly841=) c.2241+390G>A (n.2241+390G>A) c.2205+390G>A (n.2205+390G>A) c.2553G>A (p.Gly851=) c.2133+390G>A (n.2133+390G>A) c.1680-5813G>A (n.1680-5813G>A) c.2649G>A (p.Gly883=) c.2715G>A (p.Gly905=) c.2712G>A (p.Gly904=) c.2685G>A (p.Gly895=) c.2631G>A (p.Gly877=) c.2604G>A (p.Gly868=) c.2589G>A (p.Gly863=) c.2196G>A (p.Gly732=) c.2658G>A (p.Gly886=) c.2595G>A (p.Gly865=) c.2592G>A (p.Gly864=) c.2550G>A (p.Gly850=) c.1623G>A (p.Gly541=)	dbSNP gnomAD v2 gnomAD v4
20	g.63406658del	CA2739277251	KCNQ2	c.2661del (p.Arg889GlyfsTer?) c.2607del (p.Arg871GlyfsTer?) c.2004del (p.Arg670GlyfsTer?) c.2514del (p.Arg840GlyfsTer?) c.2175del (p.Arg727GlyfsTer?) c.2523del (p.Arg843GlyfsTer?) c.2241+390del (n.2241+390del) c.2205+390del (n.2205+390del) c.2553del (p.Arg853GlyfsTer?) c.2133+390del (n.2133+390del) c.1680-5813del (n.1680-5813del) c.2649del (p.Arg885GlyfsTer?) c.2715del (p.Arg907GlyfsTer?) c.2712del (p.Arg906GlyfsTer?) c.2685del (p.Arg897GlyfsTer?) c.2631del (p.Arg879GlyfsTer?) c.2604del (p.Arg870GlyfsTer?) c.2589del (p.Arg865GlyfsTer?) c.2196del (p.Arg734GlyfsTer?) c.2658del (p.Arg888GlyfsTer?) c.2595del (p.Arg867GlyfsTer?) c.2592del (p.Arg866GlyfsTer?) c.2550del (p.Arg852GlyfsTer?) c.1623del (p.Arg543GlyfsTer?)	ClinVar
20	g.63406657C>A	CA317421445	KCNQ2	c.2660G>T (p.Gly887Val) c.2606G>T (p.Gly869Val) c.2003G>T (p.Gly668Val) c.2513G>T (p.Gly838Val) c.2174G>T (p.Gly725Val) c.2522G>T (p.Gly841Val) c.2241+389G>T (n.2241+389G>T) c.2205+389G>T (n.2205+389G>T) c.2552G>T (p.Gly851Val) c.2133+389G>T (n.2133+389G>T) c.1680-5814G>T (n.1680-5814G>T) c.2648G>T (p.Gly883Val) c.2714G>T (p.Gly905Val) c.2711G>T (p.Gly904Val) c.2684G>T (p.Gly895Val) c.2630G>T (p.Gly877Val) c.2603G>T (p.Gly868Val) c.2588G>T (p.Gly863Val) c.2195G>T (p.Gly732Val) c.2657G>T (p.Gly886Val) c.2594G>T (p.Gly865Val) c.2591G>T (p.Gly864Val) c.2549G>T (p.Gly850Val) c.1622G>T (p.Gly541Val)	dbSNP gnomAD v4
20	g.63406657C=	CA2374774177	KCNQ2	c.2660G= (p.Gly887=) c.2606G= (p.Gly869=) c.2003G= (p.Gly668=) c.2513G= (p.Gly838=) c.2174G= (p.Gly725=) c.2522G= (p.Gly841=) c.2241+389G= (n.2241+389G=) c.2205+389G= (n.2205+389G=) c.2552G= (p.Gly851=) c.2133+389G= (n.2133+389G=) c.1680-5814G= (n.1680-5814G=) c.2648G= (p.Gly883=) c.2714G= (p.Gly905=) c.2711G= (p.Gly904=) c.2684G= (p.Gly895=) c.2630G= (p.Gly877=) c.2603G= (p.Gly868=) c.2588G= (p.Gly863=) c.2195G= (p.Gly732=) c.2657G= (p.Gly886=) c.2594G= (p.Gly865=) c.2591G= (p.Gly864=) c.2549G= (p.Gly850=) c.1622G= (p.Gly541=)
20	g.63406657C>G	CA409636351	KCNQ2	c.2660G>C (p.Gly887Ala) c.2606G>C (p.Gly869Ala) c.2003G>C (p.Gly668Ala) c.2513G>C (p.Gly838Ala) c.2174G>C (p.Gly725Ala) c.2522G>C (p.Gly841Ala) c.2241+389G>C (n.2241+389G>C) c.2205+389G>C (n.2205+389G>C) c.2552G>C (p.Gly851Ala) c.2133+389G>C (n.2133+389G>C) c.1680-5814G>C (n.1680-5814G>C) c.2648G>C (p.Gly883Ala) c.2714G>C (p.Gly905Ala) c.2711G>C (p.Gly904Ala) c.2684G>C (p.Gly895Ala) c.2630G>C (p.Gly877Ala) c.2603G>C (p.Gly868Ala) c.2588G>C (p.Gly863Ala) c.2195G>C (p.Gly732Ala) c.2657G>C (p.Gly886Ala) c.2594G>C (p.Gly865Ala) c.2591G>C (p.Gly864Ala) c.2549G>C (p.Gly850Ala) c.1622G>C (p.Gly541Ala)
20	g.63406657C>T	CA409636355	KCNQ2	c.2660G>A (p.Gly887Glu) c.2606G>A (p.Gly869Glu) c.2003G>A (p.Gly668Glu) c.2513G>A (p.Gly838Glu) c.2174G>A (p.Gly725Glu) c.2522G>A (p.Gly841Glu) c.2241+389G>A (n.2241+389G>A) c.2205+389G>A (n.2205+389G>A) c.2552G>A (p.Gly851Glu) c.2133+389G>A (n.2133+389G>A) c.1680-5814G>A (n.1680-5814G>A) c.2648G>A (p.Gly883Glu) c.2714G>A (p.Gly905Glu) c.2711G>A (p.Gly904Glu) c.2684G>A (p.Gly895Glu) c.2630G>A (p.Gly877Glu) c.2603G>A (p.Gly868Glu) c.2588G>A (p.Gly863Glu) c.2195G>A (p.Gly732Glu) c.2657G>A (p.Gly886Glu) c.2594G>A (p.Gly865Glu) c.2591G>A (p.Gly864Glu) c.2549G>A (p.Gly850Glu) c.1622G>A (p.Gly541Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406658C>A	CA317421463	KCNQ2	c.2659G>T (p.Gly887Trp) c.2605G>T (p.Gly869Trp) c.2002G>T (p.Gly668Trp) c.2512G>T (p.Gly838Trp) c.2173G>T (p.Gly725Trp) c.2521G>T (p.Gly841Trp) c.2241+388G>T (n.2241+388G>T) c.2205+388G>T (n.2205+388G>T) c.2551G>T (p.Gly851Trp) c.2133+388G>T (n.2133+388G>T) c.1680-5815G>T (n.1680-5815G>T) c.2647G>T (p.Gly883Trp) c.2713G>T (p.Gly905Trp) c.2710G>T (p.Gly904Trp) c.2683G>T (p.Gly895Trp) c.2629G>T (p.Gly877Trp) c.2602G>T (p.Gly868Trp) c.2587G>T (p.Gly863Trp) c.2194G>T (p.Gly732Trp) c.2656G>T (p.Gly886Trp) c.2593G>T (p.Gly865Trp) c.2590G>T (p.Gly864Trp) c.2548G>T (p.Gly850Trp) c.1621G>T (p.Gly541Trp)	dbSNP gnomAD v4
20	g.63406658C=	CA2374774178	KCNQ2	c.2659G= (p.Gly887=) c.2605G= (p.Gly869=) c.2002G= (p.Gly668=) c.2512G= (p.Gly838=) c.2173G= (p.Gly725=) c.2521G= (p.Gly841=) c.2241+388G= (n.2241+388G=) c.2205+388G= (n.2205+388G=) c.2551G= (p.Gly851=) c.2133+388G= (n.2133+388G=) c.1680-5815G= (n.1680-5815G=) c.2647G= (p.Gly883=) c.2713G= (p.Gly905=) c.2710G= (p.Gly904=) c.2683G= (p.Gly895=) c.2629G= (p.Gly877=) c.2602G= (p.Gly868=) c.2587G= (p.Gly863=) c.2194G= (p.Gly732=) c.2656G= (p.Gly886=) c.2593G= (p.Gly865=) c.2590G= (p.Gly864=) c.2548G= (p.Gly850=) c.1621G= (p.Gly541=)
20	g.63406658C>G	CA409636360	KCNQ2	c.2659G>C (p.Gly887Arg) c.2605G>C (p.Gly869Arg) c.2002G>C (p.Gly668Arg) c.2512G>C (p.Gly838Arg) c.2173G>C (p.Gly725Arg) c.2521G>C (p.Gly841Arg) c.2241+388G>C (n.2241+388G>C) c.2205+388G>C (n.2205+388G>C) c.2551G>C (p.Gly851Arg) c.2133+388G>C (n.2133+388G>C) c.1680-5815G>C (n.1680-5815G>C) c.2647G>C (p.Gly883Arg) c.2713G>C (p.Gly905Arg) c.2710G>C (p.Gly904Arg) c.2683G>C (p.Gly895Arg) c.2629G>C (p.Gly877Arg) c.2602G>C (p.Gly868Arg) c.2587G>C (p.Gly863Arg) c.2194G>C (p.Gly732Arg) c.2656G>C (p.Gly886Arg) c.2593G>C (p.Gly865Arg) c.2590G>C (p.Gly864Arg) c.2548G>C (p.Gly850Arg) c.1621G>C (p.Gly541Arg)
20	g.63406658C>T	CA409636358	KCNQ2	c.2659G>A (p.Gly887Arg) c.2605G>A (p.Gly869Arg) c.2002G>A (p.Gly668Arg) c.2512G>A (p.Gly838Arg) c.2173G>A (p.Gly725Arg) c.2521G>A (p.Gly841Arg) c.2241+388G>A (n.2241+388G>A) c.2205+388G>A (n.2205+388G>A) c.2551G>A (p.Gly851Arg) c.2133+388G>A (n.2133+388G>A) c.1680-5815G>A (n.1680-5815G>A) c.2647G>A (p.Gly883Arg) c.2713G>A (p.Gly905Arg) c.2710G>A (p.Gly904Arg) c.2683G>A (p.Gly895Arg) c.2629G>A (p.Gly877Arg) c.2602G>A (p.Gly868Arg) c.2587G>A (p.Gly863Arg) c.2194G>A (p.Gly732Arg) c.2656G>A (p.Gly886Arg) c.2593G>A (p.Gly865Arg) c.2590G>A (p.Gly864Arg) c.2548G>A (p.Gly850Arg) c.1621G>A (p.Gly541Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406658_63406659insACT	CA2374774179	KCNQ2	c.2658_2659insAGT (p.Ala886_Gly887insSer) c.2604_2605insAGT (p.Ala868_Gly869insSer) c.2001_2002insAGT (p.Ala667_Gly668insSer) c.2511_2512insAGT (p.Ala837_Gly838insSer) c.2172_2173insAGT (p.Ala724_Gly725insSer) c.2520_2521insAGT (p.Ala840_Gly841insSer) c.2241+387_2241+388insAGT (n.2241+387_2241+388insAGT) c.2205+387_2205+388insAGT (n.2205+387_2205+388insAGT) c.2550_2551insAGT (p.Ala850_Gly851insSer) c.2133+387_2133+388insAGT (n.2133+387_2133+388insAGT) c.1680-5816_1680-5815insAGT (n.1680-5816_1680-5815insAGT) c.2646_2647insAGT (p.Ala882_Gly883insSer) c.2712_2713insAGT (p.Ala904_Gly905insSer) c.2709_2710insAGT (p.Ala903_Gly904insSer) c.2682_2683insAGT (p.Ala894_Gly895insSer) c.2628_2629insAGT (p.Ala876_Gly877insSer) c.2601_2602insAGT (p.Ala867_Gly868insSer) c.2586_2587insAGT (p.Ala862_Gly863insSer) c.2193_2194insAGT (p.Ala731_Gly732insSer) c.2655_2656insAGT (p.Ala885_Gly886insSer) c.2592_2593insAGT (p.Ala864_Gly865insSer) c.2589_2590insAGT (p.Ala863_Gly864insSer) c.2547_2548insAGT (p.Ala849_Gly850insSer) c.1620_1621insAGT (p.Ala540_Gly541insSer)	dbSNP
20	g.63406659G>A	CA9958051	KCNQ2	c.2658C>T (p.Ala886=) c.2604C>T (p.Ala868=) c.2001C>T (p.Ala667=) c.2511C>T (p.Ala837=) c.2172C>T (p.Ala724=) c.2520C>T (p.Ala840=) c.2241+387C>T (n.2241+387C>T) c.2205+387C>T (n.2205+387C>T) c.2550C>T (p.Ala850=) c.2133+387C>T (n.2133+387C>T) c.1680-5816C>T (n.1680-5816C>T) c.2646C>T (p.Ala882=) c.2712C>T (p.Ala904=) c.2709C>T (p.Ala903=) c.2682C>T (p.Ala894=) c.2628C>T (p.Ala876=) c.2601C>T (p.Ala867=) c.2586C>T (p.Ala862=) c.2193C>T (p.Ala731=) c.2655C>T (p.Ala885=) c.2592C>T (p.Ala864=) c.2589C>T (p.Ala863=) c.2547C>T (p.Ala849=) c.1620C>T (p.Ala540=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406659G>C	CA511339173	KCNQ2	c.2658C>G (p.Ala886=) c.2604C>G (p.Ala868=) c.2001C>G (p.Ala667=) c.2511C>G (p.Ala837=) c.2172C>G (p.Ala724=) c.2520C>G (p.Ala840=) c.2241+387C>G (n.2241+387C>G) c.2205+387C>G (n.2205+387C>G) c.2550C>G (p.Ala850=) c.2133+387C>G (n.2133+387C>G) c.1680-5816C>G (n.1680-5816C>G) c.2646C>G (p.Ala882=) c.2712C>G (p.Ala904=) c.2709C>G (p.Ala903=) c.2682C>G (p.Ala894=) c.2628C>G (p.Ala876=) c.2601C>G (p.Ala867=) c.2586C>G (p.Ala862=) c.2193C>G (p.Ala731=) c.2655C>G (p.Ala885=) c.2592C>G (p.Ala864=) c.2589C>G (p.Ala863=) c.2547C>G (p.Ala849=) c.1620C>G (p.Ala540=)
20	g.63406659G=	CA2374774180	KCNQ2	c.2658C= (p.Ala886=) c.2604C= (p.Ala868=) c.2001C= (p.Ala667=) c.2511C= (p.Ala837=) c.2172C= (p.Ala724=) c.2520C= (p.Ala840=) c.2241+387C= (n.2241+387C=) c.2205+387C= (n.2205+387C=) c.2550C= (p.Ala850=) c.2133+387C= (n.2133+387C=) c.1680-5816C= (n.1680-5816C=) c.2646C= (p.Ala882=) c.2712C= (p.Ala904=) c.2709C= (p.Ala903=) c.2682C= (p.Ala894=) c.2628C= (p.Ala876=) c.2601C= (p.Ala867=) c.2586C= (p.Ala862=) c.2193C= (p.Ala731=) c.2655C= (p.Ala885=) c.2592C= (p.Ala864=) c.2589C= (p.Ala863=) c.2547C= (p.Ala849=) c.1620C= (p.Ala540=)
20	g.63406659G>T	CA511339174	KCNQ2	c.2658C>A (p.Ala886=) c.2604C>A (p.Ala868=) c.2001C>A (p.Ala667=) c.2511C>A (p.Ala837=) c.2172C>A (p.Ala724=) c.2520C>A (p.Ala840=) c.2241+387C>A (n.2241+387C>A) c.2205+387C>A (n.2205+387C>A) c.2550C>A (p.Ala850=) c.2133+387C>A (n.2133+387C>A) c.1680-5816C>A (n.1680-5816C>A) c.2646C>A (p.Ala882=) c.2712C>A (p.Ala904=) c.2709C>A (p.Ala903=) c.2682C>A (p.Ala894=) c.2628C>A (p.Ala876=) c.2601C>A (p.Ala867=) c.2586C>A (p.Ala862=) c.2193C>A (p.Ala731=) c.2655C>A (p.Ala885=) c.2592C>A (p.Ala864=) c.2589C>A (p.Ala863=) c.2547C>A (p.Ala849=) c.1620C>A (p.Ala540=)	gnomAD v4
20	g.63406660G>A	CA409636366	KCNQ2	c.2657C>T (p.Ala886Val) c.2603C>T (p.Ala868Val) c.2000C>T (p.Ala667Val) c.2510C>T (p.Ala837Val) c.2171C>T (p.Ala724Val) c.2519C>T (p.Ala840Val) c.2241+386C>T (n.2241+386C>T) c.2205+386C>T (n.2205+386C>T) c.2549C>T (p.Ala850Val) c.2133+386C>T (n.2133+386C>T) c.1680-5817C>T (n.1680-5817C>T) c.2645C>T (p.Ala882Val) c.2711C>T (p.Ala904Val) c.2708C>T (p.Ala903Val) c.2681C>T (p.Ala894Val) c.2627C>T (p.Ala876Val) c.2600C>T (p.Ala867Val) c.2585C>T (p.Ala862Val) c.2192C>T (p.Ala731Val) c.2654C>T (p.Ala885Val) c.2591C>T (p.Ala864Val) c.2588C>T (p.Ala863Val) c.2546C>T (p.Ala849Val) c.1619C>T (p.Ala540Val)	gnomAD v4
20	g.63406660G>C	CA409636369	KCNQ2	c.2657C>G (p.Ala886Gly) c.2603C>G (p.Ala868Gly) c.2000C>G (p.Ala667Gly) c.2510C>G (p.Ala837Gly) c.2171C>G (p.Ala724Gly) c.2519C>G (p.Ala840Gly) c.2241+386C>G (n.2241+386C>G) c.2205+386C>G (n.2205+386C>G) c.2549C>G (p.Ala850Gly) c.2133+386C>G (n.2133+386C>G) c.1680-5817C>G (n.1680-5817C>G) c.2645C>G (p.Ala882Gly) c.2711C>G (p.Ala904Gly) c.2708C>G (p.Ala903Gly) c.2681C>G (p.Ala894Gly) c.2627C>G (p.Ala876Gly) c.2600C>G (p.Ala867Gly) c.2585C>G (p.Ala862Gly) c.2192C>G (p.Ala731Gly) c.2654C>G (p.Ala885Gly) c.2591C>G (p.Ala864Gly) c.2588C>G (p.Ala863Gly) c.2546C>G (p.Ala849Gly) c.1619C>G (p.Ala540Gly)
20	g.63406660G>T	CA409636371	KCNQ2	c.2657C>A (p.Ala886Asp) c.2603C>A (p.Ala868Asp) c.2000C>A (p.Ala667Asp) c.2510C>A (p.Ala837Asp) c.2171C>A (p.Ala724Asp) c.2519C>A (p.Ala840Asp) c.2241+386C>A (n.2241+386C>A) c.2205+386C>A (n.2205+386C>A) c.2549C>A (p.Ala850Asp) c.2133+386C>A (n.2133+386C>A) c.1680-5817C>A (n.1680-5817C>A) c.2645C>A (p.Ala882Asp) c.2711C>A (p.Ala904Asp) c.2708C>A (p.Ala903Asp) c.2681C>A (p.Ala894Asp) c.2627C>A (p.Ala876Asp) c.2600C>A (p.Ala867Asp) c.2585C>A (p.Ala862Asp) c.2192C>A (p.Ala731Asp) c.2654C>A (p.Ala885Asp) c.2591C>A (p.Ala864Asp) c.2588C>A (p.Ala863Asp) c.2546C>A (p.Ala849Asp) c.1619C>A (p.Ala540Asp)	gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406665_63406669dup	CA10654777	KCNQ2	c.2653_2657dup (p.Arg889GlyfsTer?) c.2599_2603dup (p.Arg871GlyfsTer?) c.1996_2000dup (p.Arg670GlyfsTer?) c.2506_2510dup (p.Arg840GlyfsTer?) c.2167_2171dup (p.Arg727GlyfsTer?) c.2515_2519dup (p.Arg843GlyfsTer?) c.2241+382_2241+386dup (n.2241+382_2241+386dup) c.2205+382_2205+386dup (n.2205+382_2205+386dup) c.2545_2549dup (p.Arg853GlyfsTer?) c.2133+382_2133+386dup (n.2133+382_2133+386dup) c.1680-5821_1680-5817dup (n.1680-5821_1680-5817dup) c.2641_2645dup (p.Arg885GlyfsTer?) c.2707_2711dup (p.Arg907GlyfsTer?) c.2704_2708dup (p.Arg906GlyfsTer?) c.2677_2681dup (p.Arg897GlyfsTer?) c.2623_2627dup (p.Arg879GlyfsTer?) c.2596_2600dup (p.Arg870GlyfsTer?) c.2581_2585dup (p.Arg865GlyfsTer?) c.2188_2192dup (p.Arg734GlyfsTer?) c.2650_2654dup (p.Arg888GlyfsTer?) c.2587_2591dup (p.Arg867GlyfsTer?) c.2584_2588dup (p.Arg866GlyfsTer?) c.2542_2546dup (p.Arg852GlyfsTer?) c.1615_1619dup (p.Arg543GlyfsTer?)	ClinVar dbSNP
20	g.63406661C>A	CA409636376	KCNQ2	c.2656G>T (p.Ala886Ser) c.2602G>T (p.Ala868Ser) c.1999G>T (p.Ala667Ser) c.2509G>T (p.Ala837Ser) c.2170G>T (p.Ala724Ser) c.2518G>T (p.Ala840Ser) c.2241+385G>T (n.2241+385G>T) c.2205+385G>T (n.2205+385G>T) c.2548G>T (p.Ala850Ser) c.2133+385G>T (n.2133+385G>T) c.1680-5818G>T (n.1680-5818G>T) c.2644G>T (p.Ala882Ser) c.2710G>T (p.Ala904Ser) c.2707G>T (p.Ala903Ser) c.2680G>T (p.Ala894Ser) c.2626G>T (p.Ala876Ser) c.2599G>T (p.Ala867Ser) c.2584G>T (p.Ala862Ser) c.2191G>T (p.Ala731Ser) c.2653G>T (p.Ala885Ser) c.2590G>T (p.Ala864Ser) c.2587G>T (p.Ala863Ser) c.2545G>T (p.Ala849Ser) c.1618G>T (p.Ala540Ser)	gnomAD v4
20	g.63406661C=	CA2374774181	KCNQ2	c.2656G= (p.Ala886=) c.2602G= (p.Ala868=) c.1999G= (p.Ala667=) c.2509G= (p.Ala837=) c.2170G= (p.Ala724=) c.2518G= (p.Ala840=) c.2241+385G= (n.2241+385G=) c.2205+385G= (n.2205+385G=) c.2548G= (p.Ala850=) c.2133+385G= (n.2133+385G=) c.1680-5818G= (n.1680-5818G=) c.2644G= (p.Ala882=) c.2710G= (p.Ala904=) c.2707G= (p.Ala903=) c.2680G= (p.Ala894=) c.2626G= (p.Ala876=) c.2599G= (p.Ala867=) c.2584G= (p.Ala862=) c.2191G= (p.Ala731=) c.2653G= (p.Ala885=) c.2590G= (p.Ala864=) c.2587G= (p.Ala863=) c.2545G= (p.Ala849=) c.1618G= (p.Ala540=)
20	g.63406661C>G	CA9958052	KCNQ2	c.2656G>C (p.Ala886Pro) c.2602G>C (p.Ala868Pro) c.1999G>C (p.Ala667Pro) c.2509G>C (p.Ala837Pro) c.2170G>C (p.Ala724Pro) c.2518G>C (p.Ala840Pro) c.2241+385G>C (n.2241+385G>C) c.2205+385G>C (n.2205+385G>C) c.2548G>C (p.Ala850Pro) c.2133+385G>C (n.2133+385G>C) c.1680-5818G>C (n.1680-5818G>C) c.2644G>C (p.Ala882Pro) c.2710G>C (p.Ala904Pro) c.2707G>C (p.Ala903Pro) c.2680G>C (p.Ala894Pro) c.2626G>C (p.Ala876Pro) c.2599G>C (p.Ala867Pro) c.2584G>C (p.Ala862Pro) c.2191G>C (p.Ala731Pro) c.2653G>C (p.Ala885Pro) c.2590G>C (p.Ala864Pro) c.2587G>C (p.Ala863Pro) c.2545G>C (p.Ala849Pro) c.1618G>C (p.Ala540Pro)	ClinVar dbSNP ExAC
20	g.63406661C>T	CA409636374	KCNQ2	c.2656G>A (p.Ala886Thr) c.2602G>A (p.Ala868Thr) c.1999G>A (p.Ala667Thr) c.2509G>A (p.Ala837Thr) c.2170G>A (p.Ala724Thr) c.2518G>A (p.Ala840Thr) c.2241+385G>A (n.2241+385G>A) c.2205+385G>A (n.2205+385G>A) c.2548G>A (p.Ala850Thr) c.2133+385G>A (n.2133+385G>A) c.1680-5818G>A (n.1680-5818G>A) c.2644G>A (p.Ala882Thr) c.2710G>A (p.Ala904Thr) c.2707G>A (p.Ala903Thr) c.2680G>A (p.Ala894Thr) c.2626G>A (p.Ala876Thr) c.2599G>A (p.Ala867Thr) c.2584G>A (p.Ala862Thr) c.2191G>A (p.Ala731Thr) c.2653G>A (p.Ala885Thr) c.2590G>A (p.Ala864Thr) c.2587G>A (p.Ala863Thr) c.2545G>A (p.Ala849Thr) c.1618G>A (p.Ala540Thr)	dbSNP gnomAD v2 gnomAD v4
20	g.63406662C>A	CA409636379	KCNQ2	c.2655G>T (p.Trp885Cys) c.2601G>T (p.Trp867Cys) c.1998G>T (p.Trp666Cys) c.2508G>T (p.Trp836Cys) c.2169G>T (p.Trp723Cys) c.2517G>T (p.Trp839Cys) c.2241+384G>T (n.2241+384G>T) c.2205+384G>T (n.2205+384G>T) c.2547G>T (p.Trp849Cys) c.2133+384G>T (n.2133+384G>T) c.1680-5819G>T (n.1680-5819G>T) c.2643G>T (p.Trp881Cys) c.2709G>T (p.Trp903Cys) c.2706G>T (p.Trp902Cys) c.2679G>T (p.Trp893Cys) c.2625G>T (p.Trp875Cys) c.2598G>T (p.Trp866Cys) c.2583G>T (p.Trp861Cys) c.2190G>T (p.Trp730Cys) c.2652G>T (p.Trp884Cys) c.2589G>T (p.Trp863Cys) c.2586G>T (p.Trp862Cys) c.2544G>T (p.Trp848Cys) c.1617G>T (p.Trp539Cys)
20	g.63406662C>G	CA409636381	KCNQ2	c.2655G>C (p.Trp885Cys) c.2601G>C (p.Trp867Cys) c.1998G>C (p.Trp666Cys) c.2508G>C (p.Trp836Cys) c.2169G>C (p.Trp723Cys) c.2517G>C (p.Trp839Cys) c.2241+384G>C (n.2241+384G>C) c.2205+384G>C (n.2205+384G>C) c.2547G>C (p.Trp849Cys) c.2133+384G>C (n.2133+384G>C) c.1680-5819G>C (n.1680-5819G>C) c.2643G>C (p.Trp881Cys) c.2709G>C (p.Trp903Cys) c.2706G>C (p.Trp902Cys) c.2679G>C (p.Trp893Cys) c.2625G>C (p.Trp875Cys) c.2598G>C (p.Trp866Cys) c.2583G>C (p.Trp861Cys) c.2190G>C (p.Trp730Cys) c.2652G>C (p.Trp884Cys) c.2589G>C (p.Trp863Cys) c.2586G>C (p.Trp862Cys) c.2544G>C (p.Trp848Cys) c.1617G>C (p.Trp539Cys)
20	g.63406662C>T	CA409636383	KCNQ2	c.2655G>A (p.Trp885Ter) c.2601G>A (p.Trp867Ter) c.1998G>A (p.Trp666Ter) c.2508G>A (p.Trp836Ter) c.2169G>A (p.Trp723Ter) c.2517G>A (p.Trp839Ter) c.2241+384G>A (n.2241+384G>A) c.2205+384G>A (n.2205+384G>A) c.2547G>A (p.Trp849Ter) c.2133+384G>A (n.2133+384G>A) c.1680-5819G>A (n.1680-5819G>A) c.2643G>A (p.Trp881Ter) c.2709G>A (p.Trp903Ter) c.2706G>A (p.Trp902Ter) c.2679G>A (p.Trp893Ter) c.2625G>A (p.Trp875Ter) c.2598G>A (p.Trp866Ter) c.2583G>A (p.Trp861Ter) c.2190G>A (p.Trp730Ter) c.2652G>A (p.Trp884Ter) c.2589G>A (p.Trp863Ter) c.2586G>A (p.Trp862Ter) c.2544G>A (p.Trp848Ter) c.1617G>A (p.Trp539Ter)	gnomAD v4
20	g.63406663C>A	CA409636384	KCNQ2	c.2654G>T (p.Trp885Leu) c.2600G>T (p.Trp867Leu) c.1997G>T (p.Trp666Leu) c.2507G>T (p.Trp836Leu) c.2168G>T (p.Trp723Leu) c.2516G>T (p.Trp839Leu) c.2241+383G>T (n.2241+383G>T) c.2205+383G>T (n.2205+383G>T) c.2546G>T (p.Trp849Leu) c.2133+383G>T (n.2133+383G>T) c.1680-5820G>T (n.1680-5820G>T) c.2642G>T (p.Trp881Leu) c.2708G>T (p.Trp903Leu) c.2705G>T (p.Trp902Leu) c.2678G>T (p.Trp893Leu) c.2624G>T (p.Trp875Leu) c.2597G>T (p.Trp866Leu) c.2582G>T (p.Trp861Leu) c.2189G>T (p.Trp730Leu) c.2651G>T (p.Trp884Leu) c.2588G>T (p.Trp863Leu) c.2585G>T (p.Trp862Leu) c.2543G>T (p.Trp848Leu) c.1616G>T (p.Trp539Leu)	gnomAD v4
20	g.63406663C>G	CA409636385	KCNQ2	c.2654G>C (p.Trp885Ser) c.2600G>C (p.Trp867Ser) c.1997G>C (p.Trp666Ser) c.2507G>C (p.Trp836Ser) c.2168G>C (p.Trp723Ser) c.2516G>C (p.Trp839Ser) c.2241+383G>C (n.2241+383G>C) c.2205+383G>C (n.2205+383G>C) c.2546G>C (p.Trp849Ser) c.2133+383G>C (n.2133+383G>C) c.1680-5820G>C (n.1680-5820G>C) c.2642G>C (p.Trp881Ser) c.2708G>C (p.Trp903Ser) c.2705G>C (p.Trp902Ser) c.2678G>C (p.Trp893Ser) c.2624G>C (p.Trp875Ser) c.2597G>C (p.Trp866Ser) c.2582G>C (p.Trp861Ser) c.2189G>C (p.Trp730Ser) c.2651G>C (p.Trp884Ser) c.2588G>C (p.Trp863Ser) c.2585G>C (p.Trp862Ser) c.2543G>C (p.Trp848Ser) c.1616G>C (p.Trp539Ser)
20	g.63406663C>T	CA409636387	KCNQ2	c.2654G>A (p.Trp885Ter) c.2600G>A (p.Trp867Ter) c.1997G>A (p.Trp666Ter) c.2507G>A (p.Trp836Ter) c.2168G>A (p.Trp723Ter) c.2516G>A (p.Trp839Ter) c.2241+383G>A (n.2241+383G>A) c.2205+383G>A (n.2205+383G>A) c.2546G>A (p.Trp849Ter) c.2133+383G>A (n.2133+383G>A) c.1680-5820G>A (n.1680-5820G>A) c.2642G>A (p.Trp881Ter) c.2708G>A (p.Trp903Ter) c.2705G>A (p.Trp902Ter) c.2678G>A (p.Trp893Ter) c.2624G>A (p.Trp875Ter) c.2597G>A (p.Trp866Ter) c.2582G>A (p.Trp861Ter) c.2189G>A (p.Trp730Ter) c.2651G>A (p.Trp884Ter) c.2588G>A (p.Trp863Ter) c.2585G>A (p.Trp862Ter) c.2543G>A (p.Trp848Ter) c.1616G>A (p.Trp539Ter)
20	g.63406664A=	CA2374774182	KCNQ2	c.2653T= (p.Trp885=) c.2599T= (p.Trp867=) c.1996T= (p.Trp666=) c.2506T= (p.Trp836=) c.2167T= (p.Trp723=) c.2515T= (p.Trp839=) c.2241+382T= (n.2241+382T=) c.2205+382T= (n.2205+382T=) c.2545T= (p.Trp849=) c.2133+382T= (n.2133+382T=) c.1680-5821T= (n.1680-5821T=) c.2641T= (p.Trp881=) c.2707T= (p.Trp903=) c.2704T= (p.Trp902=) c.2677T= (p.Trp893=) c.2623T= (p.Trp875=) c.2596T= (p.Trp866=) c.2581T= (p.Trp861=) c.2188T= (p.Trp730=) c.2650T= (p.Trp884=) c.2587T= (p.Trp863=) c.2584T= (p.Trp862=) c.2542T= (p.Trp848=) c.1615T= (p.Trp539=)
20	g.63406664A>C	CA409636389	KCNQ2	c.2653T>G (p.Trp885Gly) c.2599T>G (p.Trp867Gly) c.1996T>G (p.Trp666Gly) c.2506T>G (p.Trp836Gly) c.2167T>G (p.Trp723Gly) c.2515T>G (p.Trp839Gly) c.2241+382T>G (n.2241+382T>G) c.2205+382T>G (n.2205+382T>G) c.2545T>G (p.Trp849Gly) c.2133+382T>G (n.2133+382T>G) c.1680-5821T>G (n.1680-5821T>G) c.2641T>G (p.Trp881Gly) c.2707T>G (p.Trp903Gly) c.2704T>G (p.Trp902Gly) c.2677T>G (p.Trp893Gly) c.2623T>G (p.Trp875Gly) c.2596T>G (p.Trp866Gly) c.2581T>G (p.Trp861Gly) c.2188T>G (p.Trp730Gly) c.2650T>G (p.Trp884Gly) c.2587T>G (p.Trp863Gly) c.2584T>G (p.Trp862Gly) c.2542T>G (p.Trp848Gly) c.1615T>G (p.Trp539Gly)
20	g.63406664A>G	CA409636393	KCNQ2	c.2653T>C (p.Trp885Arg) c.2599T>C (p.Trp867Arg) c.1996T>C (p.Trp666Arg) c.2506T>C (p.Trp836Arg) c.2167T>C (p.Trp723Arg) c.2515T>C (p.Trp839Arg) c.2241+382T>C (n.2241+382T>C) c.2205+382T>C (n.2205+382T>C) c.2545T>C (p.Trp849Arg) c.2133+382T>C (n.2133+382T>C) c.1680-5821T>C (n.1680-5821T>C) c.2641T>C (p.Trp881Arg) c.2707T>C (p.Trp903Arg) c.2704T>C (p.Trp902Arg) c.2677T>C (p.Trp893Arg) c.2623T>C (p.Trp875Arg) c.2596T>C (p.Trp866Arg) c.2581T>C (p.Trp861Arg) c.2188T>C (p.Trp730Arg) c.2650T>C (p.Trp884Arg) c.2587T>C (p.Trp863Arg) c.2584T>C (p.Trp862Arg) c.2542T>C (p.Trp848Arg) c.1615T>C (p.Trp539Arg)	ClinVar dbSNP COSMIC COSMIC COSMIC
20	g.63406664A>T	CA409636391	KCNQ2	c.2653T>A (p.Trp885Arg) c.2599T>A (p.Trp867Arg) c.1996T>A (p.Trp666Arg) c.2506T>A (p.Trp836Arg) c.2167T>A (p.Trp723Arg) c.2515T>A (p.Trp839Arg) c.2241+382T>A (n.2241+382T>A) c.2205+382T>A (n.2205+382T>A) c.2545T>A (p.Trp849Arg) c.2133+382T>A (n.2133+382T>A) c.1680-5821T>A (n.1680-5821T>A) c.2641T>A (p.Trp881Arg) c.2707T>A (p.Trp903Arg) c.2704T>A (p.Trp902Arg) c.2677T>A (p.Trp893Arg) c.2623T>A (p.Trp875Arg) c.2596T>A (p.Trp866Arg) c.2581T>A (p.Trp861Arg) c.2188T>A (p.Trp730Arg) c.2650T>A (p.Trp884Arg) c.2587T>A (p.Trp863Arg) c.2584T>A (p.Trp862Arg) c.2542T>A (p.Trp848Arg) c.1615T>A (p.Trp539Arg)
20	g.63406665G>A	CA511339177	KCNQ2	c.2652C>T (p.Gly884=) c.2598C>T (p.Gly866=) c.1995C>T (p.Gly665=) c.2505C>T (p.Gly835=) c.2166C>T (p.Gly722=) c.2514C>T (p.Gly838=) c.2241+381C>T (n.2241+381C>T) c.2205+381C>T (n.2205+381C>T) c.2544C>T (p.Gly848=) c.2133+381C>T (n.2133+381C>T) c.1680-5822C>T (n.1680-5822C>T) c.2640C>T (p.Gly880=) c.2706C>T (p.Gly902=) c.2703C>T (p.Gly901=) c.2676C>T (p.Gly892=) c.2622C>T (p.Gly874=) c.2595C>T (p.Gly865=) c.2580C>T (p.Gly860=) c.2187C>T (p.Gly729=) c.2649C>T (p.Gly883=) c.2586C>T (p.Gly862=) c.2583C>T (p.Gly861=) c.2541C>T (p.Gly847=) c.1614C>T (p.Gly538=)	dbSNP gnomAD v4
20	g.63406665G>C	CA511339176	KCNQ2	c.2652C>G (p.Gly884=) c.2598C>G (p.Gly866=) c.1995C>G (p.Gly665=) c.2505C>G (p.Gly835=) c.2166C>G (p.Gly722=) c.2514C>G (p.Gly838=) c.2241+381C>G (n.2241+381C>G) c.2205+381C>G (n.2205+381C>G) c.2544C>G (p.Gly848=) c.2133+381C>G (n.2133+381C>G) c.1680-5822C>G (n.1680-5822C>G) c.2640C>G (p.Gly880=) c.2706C>G (p.Gly902=) c.2703C>G (p.Gly901=) c.2676C>G (p.Gly892=) c.2622C>G (p.Gly874=) c.2595C>G (p.Gly865=) c.2580C>G (p.Gly860=) c.2187C>G (p.Gly729=) c.2649C>G (p.Gly883=) c.2586C>G (p.Gly862=) c.2583C>G (p.Gly861=) c.2541C>G (p.Gly847=) c.1614C>G (p.Gly538=)
20	g.63406665G>T	CA511339175	KCNQ2	c.2652C>A (p.Gly884=) c.2598C>A (p.Gly866=) c.1995C>A (p.Gly665=) c.2505C>A (p.Gly835=) c.2166C>A (p.Gly722=) c.2514C>A (p.Gly838=) c.2241+381C>A (n.2241+381C>A) c.2205+381C>A (n.2205+381C>A) c.2544C>A (p.Gly848=) c.2133+381C>A (n.2133+381C>A) c.1680-5822C>A (n.1680-5822C>A) c.2640C>A (p.Gly880=) c.2706C>A (p.Gly902=) c.2703C>A (p.Gly901=) c.2676C>A (p.Gly892=) c.2622C>A (p.Gly874=) c.2595C>A (p.Gly865=) c.2580C>A (p.Gly860=) c.2187C>A (p.Gly729=) c.2649C>A (p.Gly883=) c.2586C>A (p.Gly862=) c.2583C>A (p.Gly861=) c.2541C>A (p.Gly847=) c.1614C>A (p.Gly538=)	gnomAD v4
20	g.63406665_63406666delinsGC	CA2374774183	KCNQ2	c.2651_2652delinsGC (p.Gly884=) c.2597_2598delinsGC (p.Gly866=) c.1994_1995delinsGC (p.Gly665=) c.2504_2505delinsGC (p.Gly835=) c.2165_2166delinsGC (p.Gly722=) c.2513_2514delinsGC (p.Gly838=) c.2241+380_2241+381delinsGC (n.2241+380_2241+381delinsGC) c.2205+380_2205+381delinsGC (n.2205+380_2205+381delinsGC) c.2543_2544delinsGC (p.Gly848=) c.2133+380_2133+381delinsGC (n.2133+380_2133+381delinsGC) c.1680-5823_1680-5822delinsGC (n.1680-5823_1680-5822delinsGC) c.2639_2640delinsGC (p.Gly880=) c.2705_2706delinsGC (p.Gly902=) c.2702_2703delinsGC (p.Gly901=) c.2675_2676delinsGC (p.Gly892=) c.2621_2622delinsGC (p.Gly874=) c.2594_2595delinsGC (p.Gly865=) c.2579_2580delinsGC (p.Gly860=) c.2186_2187delinsGC (p.Gly729=) c.2648_2649delinsGC (p.Gly883=) c.2585_2586delinsGC (p.Gly862=) c.2582_2583delinsGC (p.Gly861=) c.2540_2541delinsGC (p.Gly847=) c.1613_1614delinsGC (p.Gly538=)
20	g.63406666C>A	CA409636395	KCNQ2	c.2651G>T (p.Gly884Val) c.2597G>T (p.Gly866Val) c.1994G>T (p.Gly665Val) c.2504G>T (p.Gly835Val) c.2165G>T (p.Gly722Val) c.2513G>T (p.Gly838Val) c.2241+380G>T (n.2241+380G>T) c.2205+380G>T (n.2205+380G>T) c.2543G>T (p.Gly848Val) c.2133+380G>T (n.2133+380G>T) c.1680-5823G>T (n.1680-5823G>T) c.2639G>T (p.Gly880Val) c.2705G>T (p.Gly902Val) c.2702G>T (p.Gly901Val) c.2675G>T (p.Gly892Val) c.2621G>T (p.Gly874Val) c.2594G>T (p.Gly865Val) c.2579G>T (p.Gly860Val) c.2186G>T (p.Gly729Val) c.2648G>T (p.Gly883Val) c.2585G>T (p.Gly862Val) c.2582G>T (p.Gly861Val) c.2540G>T (p.Gly847Val) c.1613G>T (p.Gly538Val)	gnomAD v4
20	g.63406666C>G	CA409636396	KCNQ2	c.2651G>C (p.Gly884Ala) c.2597G>C (p.Gly866Ala) c.1994G>C (p.Gly665Ala) c.2504G>C (p.Gly835Ala) c.2165G>C (p.Gly722Ala) c.2513G>C (p.Gly838Ala) c.2241+380G>C (n.2241+380G>C) c.2205+380G>C (n.2205+380G>C) c.2543G>C (p.Gly848Ala) c.2133+380G>C (n.2133+380G>C) c.1680-5823G>C (n.1680-5823G>C) c.2639G>C (p.Gly880Ala) c.2705G>C (p.Gly902Ala) c.2702G>C (p.Gly901Ala) c.2675G>C (p.Gly892Ala) c.2621G>C (p.Gly874Ala) c.2594G>C (p.Gly865Ala) c.2579G>C (p.Gly860Ala) c.2186G>C (p.Gly729Ala) c.2648G>C (p.Gly883Ala) c.2585G>C (p.Gly862Ala) c.2582G>C (p.Gly861Ala) c.2540G>C (p.Gly847Ala) c.1613G>C (p.Gly538Ala)
20	g.63406666C>T	CA409636398	KCNQ2	c.2651G>A (p.Gly884Asp) c.2597G>A (p.Gly866Asp) c.1994G>A (p.Gly665Asp) c.2504G>A (p.Gly835Asp) c.2165G>A (p.Gly722Asp) c.2513G>A (p.Gly838Asp) c.2241+380G>A (n.2241+380G>A) c.2205+380G>A (n.2205+380G>A) c.2543G>A (p.Gly848Asp) c.2133+380G>A (n.2133+380G>A) c.1680-5823G>A (n.1680-5823G>A) c.2639G>A (p.Gly880Asp) c.2705G>A (p.Gly902Asp) c.2702G>A (p.Gly901Asp) c.2675G>A (p.Gly892Asp) c.2621G>A (p.Gly874Asp) c.2594G>A (p.Gly865Asp) c.2579G>A (p.Gly860Asp) c.2186G>A (p.Gly729Asp) c.2648G>A (p.Gly883Asp) c.2585G>A (p.Gly862Asp) c.2582G>A (p.Gly861Asp) c.2540G>A (p.Gly847Asp) c.1613G>A (p.Gly538Asp)	gnomAD v4
20	g.63406668del	CA342495	KCNQ2	c.2651del (p.Gly884AlafsTer?) c.2597del (p.Gly866AlafsTer?) c.1994del (p.Gly665AlafsTer?) c.2504del (p.Gly835AlafsTer?) c.2165del (p.Gly722AlafsTer?) c.2513del (p.Gly838AlafsTer?) c.2241+380del (n.2241+380del) c.2205+380del (n.2205+380del) c.2543del (p.Gly848AlafsTer?) c.2133+380del (n.2133+380del) c.1680-5823del (n.1680-5823del) c.2639del (p.Gly880AlafsTer?) c.2705del (p.Gly902AlafsTer?) c.2702del (p.Gly901AlafsTer?) c.2675del (p.Gly892AlafsTer?) c.2621del (p.Gly874AlafsTer?) c.2594del (p.Gly865AlafsTer?) c.2579del (p.Gly860AlafsTer?) c.2186del (p.Gly729AlafsTer?) c.2648del (p.Gly883AlafsTer?) c.2585del (p.Gly862AlafsTer?) c.2582del (p.Gly861AlafsTer?) c.2540del (p.Gly847AlafsTer?) c.1613del (p.Gly538AlafsTer?)	ClinVar dbSNP
20	g.63406667C>A	CA409636401	KCNQ2	c.2650G>T (p.Gly884Cys) c.2596G>T (p.Gly866Cys) c.1993G>T (p.Gly665Cys) c.2503G>T (p.Gly835Cys) c.2164G>T (p.Gly722Cys) c.2512G>T (p.Gly838Cys) c.2241+379G>T (n.2241+379G>T) c.2205+379G>T (n.2205+379G>T) c.2542G>T (p.Gly848Cys) c.2133+379G>T (n.2133+379G>T) c.1680-5824G>T (n.1680-5824G>T) c.2638G>T (p.Gly880Cys) c.2704G>T (p.Gly902Cys) c.2701G>T (p.Gly901Cys) c.2674G>T (p.Gly892Cys) c.2620G>T (p.Gly874Cys) c.2593G>T (p.Gly865Cys) c.2578G>T (p.Gly860Cys) c.2185G>T (p.Gly729Cys) c.2647G>T (p.Gly883Cys) c.2584G>T (p.Gly862Cys) c.2581G>T (p.Gly861Cys) c.2539G>T (p.Gly847Cys) c.1612G>T (p.Gly538Cys)	gnomAD v4
20	g.63406667C>G	CA409636403	KCNQ2	c.2650G>C (p.Gly884Arg) c.2596G>C (p.Gly866Arg) c.1993G>C (p.Gly665Arg) c.2503G>C (p.Gly835Arg) c.2164G>C (p.Gly722Arg) c.2512G>C (p.Gly838Arg) c.2241+379G>C (n.2241+379G>C) c.2205+379G>C (n.2205+379G>C) c.2542G>C (p.Gly848Arg) c.2133+379G>C (n.2133+379G>C) c.1680-5824G>C (n.1680-5824G>C) c.2638G>C (p.Gly880Arg) c.2704G>C (p.Gly902Arg) c.2701G>C (p.Gly901Arg) c.2674G>C (p.Gly892Arg) c.2620G>C (p.Gly874Arg) c.2593G>C (p.Gly865Arg) c.2578G>C (p.Gly860Arg) c.2185G>C (p.Gly729Arg) c.2647G>C (p.Gly883Arg) c.2584G>C (p.Gly862Arg) c.2581G>C (p.Gly861Arg) c.2539G>C (p.Gly847Arg) c.1612G>C (p.Gly538Arg)
20	g.63406667C>T	CA409636405	KCNQ2	c.2650G>A (p.Gly884Ser) c.2596G>A (p.Gly866Ser) c.1993G>A (p.Gly665Ser) c.2503G>A (p.Gly835Ser) c.2164G>A (p.Gly722Ser) c.2512G>A (p.Gly838Ser) c.2241+379G>A (n.2241+379G>A) c.2205+379G>A (n.2205+379G>A) c.2542G>A (p.Gly848Ser) c.2133+379G>A (n.2133+379G>A) c.1680-5824G>A (n.1680-5824G>A) c.2638G>A (p.Gly880Ser) c.2704G>A (p.Gly902Ser) c.2701G>A (p.Gly901Ser) c.2674G>A (p.Gly892Ser) c.2620G>A (p.Gly874Ser) c.2593G>A (p.Gly865Ser) c.2578G>A (p.Gly860Ser) c.2185G>A (p.Gly729Ser) c.2647G>A (p.Gly883Ser) c.2584G>A (p.Gly862Ser) c.2581G>A (p.Gly861Ser) c.2539G>A (p.Gly847Ser) c.1612G>A (p.Gly538Ser)	gnomAD v4
20	g.63406668C>A	CA511339178	KCNQ2	c.2649G>T (p.Val883=) c.2595G>T (p.Val865=) c.1992G>T (p.Val664=) c.2502G>T (p.Val834=) c.2163G>T (p.Val721=) c.2511G>T (p.Val837=) c.2241+378G>T (n.2241+378G>T) c.2205+378G>T (n.2205+378G>T) c.2541G>T (p.Val847=) c.2133+378G>T (n.2133+378G>T) c.1680-5825G>T (n.1680-5825G>T) c.2637G>T (p.Val879=) c.2703G>T (p.Val901=) c.2700G>T (p.Val900=) c.2673G>T (p.Val891=) c.2619G>T (p.Val873=) c.2592G>T (p.Val864=) c.2577G>T (p.Val859=) c.2184G>T (p.Val728=) c.2646G>T (p.Val882=) c.2583G>T (p.Val861=) c.2580G>T (p.Val860=) c.2538G>T (p.Val846=) c.1611G>T (p.Val537=)	gnomAD v4
20	g.63406668C>G	CA511339179	KCNQ2	c.2649G>C (p.Val883=) c.2595G>C (p.Val865=) c.1992G>C (p.Val664=) c.2502G>C (p.Val834=) c.2163G>C (p.Val721=) c.2511G>C (p.Val837=) c.2241+378G>C (n.2241+378G>C) c.2205+378G>C (n.2205+378G>C) c.2541G>C (p.Val847=) c.2133+378G>C (n.2133+378G>C) c.1680-5825G>C (n.1680-5825G>C) c.2637G>C (p.Val879=) c.2703G>C (p.Val901=) c.2700G>C (p.Val900=) c.2673G>C (p.Val891=) c.2619G>C (p.Val873=) c.2592G>C (p.Val864=) c.2577G>C (p.Val859=) c.2184G>C (p.Val728=) c.2646G>C (p.Val882=) c.2583G>C (p.Val861=) c.2580G>C (p.Val860=) c.2538G>C (p.Val846=) c.1611G>C (p.Val537=)
20	g.63406668C>T	CA511339180	KCNQ2	c.2649G>A (p.Val883=) c.2595G>A (p.Val865=) c.1992G>A (p.Val664=) c.2502G>A (p.Val834=) c.2163G>A (p.Val721=) c.2511G>A (p.Val837=) c.2241+378G>A (n.2241+378G>A) c.2205+378G>A (n.2205+378G>A) c.2541G>A (p.Val847=) c.2133+378G>A (n.2133+378G>A) c.1680-5825G>A (n.1680-5825G>A) c.2637G>A (p.Val879=) c.2703G>A (p.Val901=) c.2700G>A (p.Val900=) c.2673G>A (p.Val891=) c.2619G>A (p.Val873=) c.2592G>A (p.Val864=) c.2577G>A (p.Val859=) c.2184G>A (p.Val728=) c.2646G>A (p.Val882=) c.2583G>A (p.Val861=) c.2580G>A (p.Val860=) c.2538G>A (p.Val846=) c.1611G>A (p.Val537=)
20	g.63406669A=	CA2374774184	KCNQ2	c.2648T= (p.Val883=) c.2594T= (p.Val865=) c.1991T= (p.Val664=) c.2501T= (p.Val834=) c.2162T= (p.Val721=) c.2510T= (p.Val837=) c.2241+377T= (n.2241+377T=) c.2205+377T= (n.2205+377T=) c.2540T= (p.Val847=) c.2133+377T= (n.2133+377T=) c.1680-5826T= (n.1680-5826T=) c.2636T= (p.Val879=) c.2702T= (p.Val901=) c.2699T= (p.Val900=) c.2672T= (p.Val891=) c.2618T= (p.Val873=) c.2591T= (p.Val864=) c.2576T= (p.Val859=) c.2183T= (p.Val728=) c.2645T= (p.Val882=) c.2582T= (p.Val861=) c.2579T= (p.Val860=) c.2537T= (p.Val846=) c.1610T= (p.Val537=)
20	g.63406669A>C	CA9958053	KCNQ2	c.2648T>G (p.Val883Gly) c.2594T>G (p.Val865Gly) c.1991T>G (p.Val664Gly) c.2501T>G (p.Val834Gly) c.2162T>G (p.Val721Gly) c.2510T>G (p.Val837Gly) c.2241+377T>G (n.2241+377T>G) c.2205+377T>G (n.2205+377T>G) c.2540T>G (p.Val847Gly) c.2133+377T>G (n.2133+377T>G) c.1680-5826T>G (n.1680-5826T>G) c.2636T>G (p.Val879Gly) c.2702T>G (p.Val901Gly) c.2699T>G (p.Val900Gly) c.2672T>G (p.Val891Gly) c.2618T>G (p.Val873Gly) c.2591T>G (p.Val864Gly) c.2576T>G (p.Val859Gly) c.2183T>G (p.Val728Gly) c.2645T>G (p.Val882Gly) c.2582T>G (p.Val861Gly) c.2579T>G (p.Val860Gly) c.2537T>G (p.Val846Gly) c.1610T>G (p.Val537Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406669A>G	CA409636407	KCNQ2	c.2648T>C (p.Val883Ala) c.2594T>C (p.Val865Ala) c.1991T>C (p.Val664Ala) c.2501T>C (p.Val834Ala) c.2162T>C (p.Val721Ala) c.2510T>C (p.Val837Ala) c.2241+377T>C (n.2241+377T>C) c.2205+377T>C (n.2205+377T>C) c.2540T>C (p.Val847Ala) c.2133+377T>C (n.2133+377T>C) c.1680-5826T>C (n.1680-5826T>C) c.2636T>C (p.Val879Ala) c.2702T>C (p.Val901Ala) c.2699T>C (p.Val900Ala) c.2672T>C (p.Val891Ala) c.2618T>C (p.Val873Ala) c.2591T>C (p.Val864Ala) c.2576T>C (p.Val859Ala) c.2183T>C (p.Val728Ala) c.2645T>C (p.Val882Ala) c.2582T>C (p.Val861Ala) c.2579T>C (p.Val860Ala) c.2537T>C (p.Val846Ala) c.1610T>C (p.Val537Ala)
20	g.63406669A>T	CA409636408	KCNQ2	c.2648T>A (p.Val883Glu) c.2594T>A (p.Val865Glu) c.1991T>A (p.Val664Glu) c.2501T>A (p.Val834Glu) c.2162T>A (p.Val721Glu) c.2510T>A (p.Val837Glu) c.2241+377T>A (n.2241+377T>A) c.2205+377T>A (n.2205+377T>A) c.2540T>A (p.Val847Glu) c.2133+377T>A (n.2133+377T>A) c.1680-5826T>A (n.1680-5826T>A) c.2636T>A (p.Val879Glu) c.2702T>A (p.Val901Glu) c.2699T>A (p.Val900Glu) c.2672T>A (p.Val891Glu) c.2618T>A (p.Val873Glu) c.2591T>A (p.Val864Glu) c.2576T>A (p.Val859Glu) c.2183T>A (p.Val728Glu) c.2645T>A (p.Val882Glu) c.2582T>A (p.Val861Glu) c.2579T>A (p.Val860Glu) c.2537T>A (p.Val846Glu) c.1610T>A (p.Val537Glu)
20	g.63406670C>A	CA409636413	KCNQ2	c.2647G>T (p.Val883Leu) c.2593G>T (p.Val865Leu) c.1990G>T (p.Val664Leu) c.2500G>T (p.Val834Leu) c.2161G>T (p.Val721Leu) c.2509G>T (p.Val837Leu) c.2241+376G>T (n.2241+376G>T) c.2205+376G>T (n.2205+376G>T) c.2539G>T (p.Val847Leu) c.2133+376G>T (n.2133+376G>T) c.1680-5827G>T (n.1680-5827G>T) c.2635G>T (p.Val879Leu) c.2701G>T (p.Val901Leu) c.2698G>T (p.Val900Leu) c.2671G>T (p.Val891Leu) c.2617G>T (p.Val873Leu) c.2590G>T (p.Val864Leu) c.2575G>T (p.Val859Leu) c.2182G>T (p.Val728Leu) c.2644G>T (p.Val882Leu) c.2581G>T (p.Val861Leu) c.2578G>T (p.Val860Leu) c.2536G>T (p.Val846Leu) c.1609G>T (p.Val537Leu)
20	g.63406670C=	CA2374774185	KCNQ2	c.2647G= (p.Val883=) c.2593G= (p.Val865=) c.1990G= (p.Val664=) c.2500G= (p.Val834=) c.2161G= (p.Val721=) c.2509G= (p.Val837=) c.2241+376G= (n.2241+376G=) c.2205+376G= (n.2205+376G=) c.2539G= (p.Val847=) c.2133+376G= (n.2133+376G=) c.1680-5827G= (n.1680-5827G=) c.2635G= (p.Val879=) c.2701G= (p.Val901=) c.2698G= (p.Val900=) c.2671G= (p.Val891=) c.2617G= (p.Val873=) c.2590G= (p.Val864=) c.2575G= (p.Val859=) c.2182G= (p.Val728=) c.2644G= (p.Val882=) c.2581G= (p.Val861=) c.2578G= (p.Val860=) c.2536G= (p.Val846=) c.1609G= (p.Val537=)
20	g.63406670C>G	CA409636410	KCNQ2	c.2647G>C (p.Val883Leu) c.2593G>C (p.Val865Leu) c.1990G>C (p.Val664Leu) c.2500G>C (p.Val834Leu) c.2161G>C (p.Val721Leu) c.2509G>C (p.Val837Leu) c.2241+376G>C (n.2241+376G>C) c.2205+376G>C (n.2205+376G>C) c.2539G>C (p.Val847Leu) c.2133+376G>C (n.2133+376G>C) c.1680-5827G>C (n.1680-5827G>C) c.2635G>C (p.Val879Leu) c.2701G>C (p.Val901Leu) c.2698G>C (p.Val900Leu) c.2671G>C (p.Val891Leu) c.2617G>C (p.Val873Leu) c.2590G>C (p.Val864Leu) c.2575G>C (p.Val859Leu) c.2182G>C (p.Val728Leu) c.2644G>C (p.Val882Leu) c.2581G>C (p.Val861Leu) c.2578G>C (p.Val860Leu) c.2536G>C (p.Val846Leu) c.1609G>C (p.Val537Leu)	dbSNP gnomAD v4
20	g.63406670C>T	CA317421518	KCNQ2	c.2647G>A (p.Val883Met) c.2593G>A (p.Val865Met) c.1990G>A (p.Val664Met) c.2500G>A (p.Val834Met) c.2161G>A (p.Val721Met) c.2509G>A (p.Val837Met) c.2241+376G>A (n.2241+376G>A) c.2205+376G>A (n.2205+376G>A) c.2539G>A (p.Val847Met) c.2133+376G>A (n.2133+376G>A) c.1680-5827G>A (n.1680-5827G>A) c.2635G>A (p.Val879Met) c.2701G>A (p.Val901Met) c.2698G>A (p.Val900Met) c.2671G>A (p.Val891Met) c.2617G>A (p.Val873Met) c.2590G>A (p.Val864Met) c.2575G>A (p.Val859Met) c.2182G>A (p.Val728Met) c.2644G>A (p.Val882Met) c.2581G>A (p.Val861Met) c.2578G>A (p.Val860Met) c.2536G>A (p.Val846Met) c.1609G>A (p.Val537Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406671G>A	CA9958054	KCNQ2	c.2646C>T (p.Asp882=) c.2592C>T (p.Asp864=) c.1989C>T (p.Asp663=) c.2499C>T (p.Asp833=) c.2160C>T (p.Asp720=) c.2508C>T (p.Asp836=) c.2241+375C>T (n.2241+375C>T) c.2205+375C>T (n.2205+375C>T) c.2538C>T (p.Asp846=) c.2133+375C>T (n.2133+375C>T) c.1680-5828C>T (n.1680-5828C>T) c.2634C>T (p.Asp878=) c.2700C>T (p.Asp900=) c.2697C>T (p.Asp899=) c.2670C>T (p.Asp890=) c.2616C>T (p.Asp872=) c.2589C>T (p.Asp863=) c.2574C>T (p.Asp858=) c.2181C>T (p.Asp727=) c.2643C>T (p.Asp881=) c.2580C>T (p.Asp860=) c.2577C>T (p.Asp859=) c.2535C>T (p.Asp845=) c.1608C>T (p.Asp536=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406671G>C	CA409636417	KCNQ2	c.2646C>G (p.Asp882Glu) c.2592C>G (p.Asp864Glu) c.1989C>G (p.Asp663Glu) c.2499C>G (p.Asp833Glu) c.2160C>G (p.Asp720Glu) c.2508C>G (p.Asp836Glu) c.2241+375C>G (n.2241+375C>G) c.2205+375C>G (n.2205+375C>G) c.2538C>G (p.Asp846Glu) c.2133+375C>G (n.2133+375C>G) c.1680-5828C>G (n.1680-5828C>G) c.2634C>G (p.Asp878Glu) c.2700C>G (p.Asp900Glu) c.2697C>G (p.Asp899Glu) c.2670C>G (p.Asp890Glu) c.2616C>G (p.Asp872Glu) c.2589C>G (p.Asp863Glu) c.2574C>G (p.Asp858Glu) c.2181C>G (p.Asp727Glu) c.2643C>G (p.Asp881Glu) c.2580C>G (p.Asp860Glu) c.2577C>G (p.Asp859Glu) c.2535C>G (p.Asp845Glu) c.1608C>G (p.Asp536Glu)
20	g.63406671G=	CA2374774186	KCNQ2	c.2646C= (p.Asp882=) c.2592C= (p.Asp864=) c.1989C= (p.Asp663=) c.2499C= (p.Asp833=) c.2160C= (p.Asp720=) c.2508C= (p.Asp836=) c.2241+375C= (n.2241+375C=) c.2205+375C= (n.2205+375C=) c.2538C= (p.Asp846=) c.2133+375C= (n.2133+375C=) c.1680-5828C= (n.1680-5828C=) c.2634C= (p.Asp878=) c.2700C= (p.Asp900=) c.2697C= (p.Asp899=) c.2670C= (p.Asp890=) c.2616C= (p.Asp872=) c.2589C= (p.Asp863=) c.2574C= (p.Asp858=) c.2181C= (p.Asp727=) c.2643C= (p.Asp881=) c.2580C= (p.Asp860=) c.2577C= (p.Asp859=) c.2535C= (p.Asp845=) c.1608C= (p.Asp536=)
20	g.63406671G>T	CA409636415	KCNQ2	c.2646C>A (p.Asp882Glu) c.2592C>A (p.Asp864Glu) c.1989C>A (p.Asp663Glu) c.2499C>A (p.Asp833Glu) c.2160C>A (p.Asp720Glu) c.2508C>A (p.Asp836Glu) c.2241+375C>A (n.2241+375C>A) c.2205+375C>A (n.2205+375C>A) c.2538C>A (p.Asp846Glu) c.2133+375C>A (n.2133+375C>A) c.1680-5828C>A (n.1680-5828C>A) c.2634C>A (p.Asp878Glu) c.2700C>A (p.Asp900Glu) c.2697C>A (p.Asp899Glu) c.2670C>A (p.Asp890Glu) c.2616C>A (p.Asp872Glu) c.2589C>A (p.Asp863Glu) c.2574C>A (p.Asp858Glu) c.2181C>A (p.Asp727Glu) c.2643C>A (p.Asp881Glu) c.2580C>A (p.Asp860Glu) c.2577C>A (p.Asp859Glu) c.2535C>A (p.Asp845Glu) c.1608C>A (p.Asp536Glu)	gnomAD v4
20	g.63406672T>A	CA409636419	KCNQ2	c.2645A>T (p.Asp882Val) c.2591A>T (p.Asp864Val) c.1988A>T (p.Asp663Val) c.2498A>T (p.Asp833Val) c.2159A>T (p.Asp720Val) c.2507A>T (p.Asp836Val) c.2241+374A>T (n.2241+374A>T) c.2205+374A>T (n.2205+374A>T) c.2537A>T (p.Asp846Val) c.2133+374A>T (n.2133+374A>T) c.1680-5829A>T (n.1680-5829A>T) c.2633A>T (p.Asp878Val) c.2699A>T (p.Asp900Val) c.2696A>T (p.Asp899Val) c.2669A>T (p.Asp890Val) c.2615A>T (p.Asp872Val) c.2588A>T (p.Asp863Val) c.2573A>T (p.Asp858Val) c.2180A>T (p.Asp727Val) c.2642A>T (p.Asp881Val) c.2579A>T (p.Asp860Val) c.2576A>T (p.Asp859Val) c.2534A>T (p.Asp845Val) c.1607A>T (p.Asp536Val)
20	g.63406672T>C	CA409636421	KCNQ2	c.2645A>G (p.Asp882Gly) c.2591A>G (p.Asp864Gly) c.1988A>G (p.Asp663Gly) c.2498A>G (p.Asp833Gly) c.2159A>G (p.Asp720Gly) c.2507A>G (p.Asp836Gly) c.2241+374A>G (n.2241+374A>G) c.2205+374A>G (n.2205+374A>G) c.2537A>G (p.Asp846Gly) c.2133+374A>G (n.2133+374A>G) c.1680-5829A>G (n.1680-5829A>G) c.2633A>G (p.Asp878Gly) c.2699A>G (p.Asp900Gly) c.2696A>G (p.Asp899Gly) c.2669A>G (p.Asp890Gly) c.2615A>G (p.Asp872Gly) c.2588A>G (p.Asp863Gly) c.2573A>G (p.Asp858Gly) c.2180A>G (p.Asp727Gly) c.2642A>G (p.Asp881Gly) c.2579A>G (p.Asp860Gly) c.2576A>G (p.Asp859Gly) c.2534A>G (p.Asp845Gly) c.1607A>G (p.Asp536Gly)
20	g.63406672T>G	CA409636423	KCNQ2	c.2645A>C (p.Asp882Ala) c.2591A>C (p.Asp864Ala) c.1988A>C (p.Asp663Ala) c.2498A>C (p.Asp833Ala) c.2159A>C (p.Asp720Ala) c.2507A>C (p.Asp836Ala) c.2241+374A>C (n.2241+374A>C) c.2205+374A>C (n.2205+374A>C) c.2537A>C (p.Asp846Ala) c.2133+374A>C (n.2133+374A>C) c.1680-5829A>C (n.1680-5829A>C) c.2633A>C (p.Asp878Ala) c.2699A>C (p.Asp900Ala) c.2696A>C (p.Asp899Ala) c.2669A>C (p.Asp890Ala) c.2615A>C (p.Asp872Ala) c.2588A>C (p.Asp863Ala) c.2573A>C (p.Asp858Ala) c.2180A>C (p.Asp727Ala) c.2642A>C (p.Asp881Ala) c.2579A>C (p.Asp860Ala) c.2576A>C (p.Asp859Ala) c.2534A>C (p.Asp845Ala) c.1607A>C (p.Asp536Ala)
20	g.63406673C>A	CA409636425	KCNQ2	c.2644G>T (p.Asp882Tyr) c.2590G>T (p.Asp864Tyr) c.1987G>T (p.Asp663Tyr) c.2497G>T (p.Asp833Tyr) c.2158G>T (p.Asp720Tyr) c.2506G>T (p.Asp836Tyr) c.2241+373G>T (n.2241+373G>T) c.2205+373G>T (n.2205+373G>T) c.2536G>T (p.Asp846Tyr) c.2133+373G>T (n.2133+373G>T) c.1680-5830G>T (n.1680-5830G>T) c.2632G>T (p.Asp878Tyr) c.2698G>T (p.Asp900Tyr) c.2695G>T (p.Asp899Tyr) c.2668G>T (p.Asp890Tyr) c.2614G>T (p.Asp872Tyr) c.2587G>T (p.Asp863Tyr) c.2572G>T (p.Asp858Tyr) c.2179G>T (p.Asp727Tyr) c.2641G>T (p.Asp881Tyr) c.2578G>T (p.Asp860Tyr) c.2575G>T (p.Asp859Tyr) c.2533G>T (p.Asp845Tyr) c.1606G>T (p.Asp536Tyr)	gnomAD v4
20	g.63406673C>G	CA409636426	KCNQ2	c.2644G>C (p.Asp882His) c.2590G>C (p.Asp864His) c.1987G>C (p.Asp663His) c.2497G>C (p.Asp833His) c.2158G>C (p.Asp720His) c.2506G>C (p.Asp836His) c.2241+373G>C (n.2241+373G>C) c.2205+373G>C (n.2205+373G>C) c.2536G>C (p.Asp846His) c.2133+373G>C (n.2133+373G>C) c.1680-5830G>C (n.1680-5830G>C) c.2632G>C (p.Asp878His) c.2698G>C (p.Asp900His) c.2695G>C (p.Asp899His) c.2668G>C (p.Asp890His) c.2614G>C (p.Asp872His) c.2587G>C (p.Asp863His) c.2572G>C (p.Asp858His) c.2179G>C (p.Asp727His) c.2641G>C (p.Asp881His) c.2578G>C (p.Asp860His) c.2575G>C (p.Asp859His) c.2533G>C (p.Asp845His) c.1606G>C (p.Asp536His)
20	g.63406673C>T	CA409636428	KCNQ2	c.2644G>A (p.Asp882Asn) c.2590G>A (p.Asp864Asn) c.1987G>A (p.Asp663Asn) c.2497G>A (p.Asp833Asn) c.2158G>A (p.Asp720Asn) c.2506G>A (p.Asp836Asn) c.2241+373G>A (n.2241+373G>A) c.2205+373G>A (n.2205+373G>A) c.2536G>A (p.Asp846Asn) c.2133+373G>A (n.2133+373G>A) c.1680-5830G>A (n.1680-5830G>A) c.2632G>A (p.Asp878Asn) c.2698G>A (p.Asp900Asn) c.2695G>A (p.Asp899Asn) c.2668G>A (p.Asp890Asn) c.2614G>A (p.Asp872Asn) c.2587G>A (p.Asp863Asn) c.2572G>A (p.Asp858Asn) c.2179G>A (p.Asp727Asn) c.2641G>A (p.Asp881Asn) c.2578G>A (p.Asp860Asn) c.2575G>A (p.Asp859Asn) c.2533G>A (p.Asp845Asn) c.1606G>A (p.Asp536Asn)
20	g.63406674A>C	CA511339181	KCNQ2	c.2643T>G (p.Gly881=) c.2589T>G (p.Gly863=) c.1986T>G (p.Gly662=) c.2496T>G (p.Gly832=) c.2157T>G (p.Gly719=) c.2505T>G (p.Gly835=) c.2241+372T>G (n.2241+372T>G) c.2205+372T>G (n.2205+372T>G) c.2535T>G (p.Gly845=) c.2133+372T>G (n.2133+372T>G) c.1680-5831T>G (n.1680-5831T>G) c.2631T>G (p.Gly877=) c.2697T>G (p.Gly899=) c.2694T>G (p.Gly898=) c.2667T>G (p.Gly889=) c.2613T>G (p.Gly871=) c.2586T>G (p.Gly862=) c.2571T>G (p.Gly857=) c.2178T>G (p.Gly726=) c.2640T>G (p.Gly880=) c.2577T>G (p.Gly859=) c.2574T>G (p.Gly858=) c.2532T>G (p.Gly844=) c.1605T>G (p.Gly535=)
20	g.63406674A>G	CA511339182	KCNQ2	c.2643T>C (p.Gly881=) c.2589T>C (p.Gly863=) c.1986T>C (p.Gly662=) c.2496T>C (p.Gly832=) c.2157T>C (p.Gly719=) c.2505T>C (p.Gly835=) c.2241+372T>C (n.2241+372T>C) c.2205+372T>C (n.2205+372T>C) c.2535T>C (p.Gly845=) c.2133+372T>C (n.2133+372T>C) c.1680-5831T>C (n.1680-5831T>C) c.2631T>C (p.Gly877=) c.2697T>C (p.Gly899=) c.2694T>C (p.Gly898=) c.2667T>C (p.Gly889=) c.2613T>C (p.Gly871=) c.2586T>C (p.Gly862=) c.2571T>C (p.Gly857=) c.2178T>C (p.Gly726=) c.2640T>C (p.Gly880=) c.2577T>C (p.Gly859=) c.2574T>C (p.Gly858=) c.2532T>C (p.Gly844=) c.1605T>C (p.Gly535=)
20	g.63406674A>T	CA511339183	KCNQ2	c.2643T>A (p.Gly881=) c.2589T>A (p.Gly863=) c.1986T>A (p.Gly662=) c.2496T>A (p.Gly832=) c.2157T>A (p.Gly719=) c.2505T>A (p.Gly835=) c.2241+372T>A (n.2241+372T>A) c.2205+372T>A (n.2205+372T>A) c.2535T>A (p.Gly845=) c.2133+372T>A (n.2133+372T>A) c.1680-5831T>A (n.1680-5831T>A) c.2631T>A (p.Gly877=) c.2697T>A (p.Gly899=) c.2694T>A (p.Gly898=) c.2667T>A (p.Gly889=) c.2613T>A (p.Gly871=) c.2586T>A (p.Gly862=) c.2571T>A (p.Gly857=) c.2178T>A (p.Gly726=) c.2640T>A (p.Gly880=) c.2577T>A (p.Gly859=) c.2574T>A (p.Gly858=) c.2532T>A (p.Gly844=) c.1605T>A (p.Gly535=)
20	g.63406675C>A	CA409636430	KCNQ2	c.2642G>T (p.Gly881Val) c.2588G>T (p.Gly863Val) c.1985G>T (p.Gly662Val) c.2495G>T (p.Gly832Val) c.2156G>T (p.Gly719Val) c.2504G>T (p.Gly835Val) c.2241+371G>T (n.2241+371G>T) c.2205+371G>T (n.2205+371G>T) c.2534G>T (p.Gly845Val) c.2133+371G>T (n.2133+371G>T) c.1680-5832G>T (n.1680-5832G>T) c.2630G>T (p.Gly877Val) c.2696G>T (p.Gly899Val) c.2693G>T (p.Gly898Val) c.2666G>T (p.Gly889Val) c.2612G>T (p.Gly871Val) c.2585G>T (p.Gly862Val) c.2570G>T (p.Gly857Val) c.2177G>T (p.Gly726Val) c.2639G>T (p.Gly880Val) c.2576G>T (p.Gly859Val) c.2573G>T (p.Gly858Val) c.2531G>T (p.Gly844Val) c.1604G>T (p.Gly535Val)
20	g.63406675C>G	CA409636432	KCNQ2	c.2642G>C (p.Gly881Ala) c.2588G>C (p.Gly863Ala) c.1985G>C (p.Gly662Ala) c.2495G>C (p.Gly832Ala) c.2156G>C (p.Gly719Ala) c.2504G>C (p.Gly835Ala) c.2241+371G>C (n.2241+371G>C) c.2205+371G>C (n.2205+371G>C) c.2534G>C (p.Gly845Ala) c.2133+371G>C (n.2133+371G>C) c.1680-5832G>C (n.1680-5832G>C) c.2630G>C (p.Gly877Ala) c.2696G>C (p.Gly899Ala) c.2693G>C (p.Gly898Ala) c.2666G>C (p.Gly889Ala) c.2612G>C (p.Gly871Ala) c.2585G>C (p.Gly862Ala) c.2570G>C (p.Gly857Ala) c.2177G>C (p.Gly726Ala) c.2639G>C (p.Gly880Ala) c.2576G>C (p.Gly859Ala) c.2573G>C (p.Gly858Ala) c.2531G>C (p.Gly844Ala) c.1604G>C (p.Gly535Ala)
20	g.63406675C>T	CA409636434	KCNQ2	c.2642G>A (p.Gly881Asp) c.2588G>A (p.Gly863Asp) c.1985G>A (p.Gly662Asp) c.2495G>A (p.Gly832Asp) c.2156G>A (p.Gly719Asp) c.2504G>A (p.Gly835Asp) c.2241+371G>A (n.2241+371G>A) c.2205+371G>A (n.2205+371G>A) c.2534G>A (p.Gly845Asp) c.2133+371G>A (n.2133+371G>A) c.1680-5832G>A (n.1680-5832G>A) c.2630G>A (p.Gly877Asp) c.2696G>A (p.Gly899Asp) c.2693G>A (p.Gly898Asp) c.2666G>A (p.Gly889Asp) c.2612G>A (p.Gly871Asp) c.2585G>A (p.Gly862Asp) c.2570G>A (p.Gly857Asp) c.2177G>A (p.Gly726Asp) c.2639G>A (p.Gly880Asp) c.2576G>A (p.Gly859Asp) c.2573G>A (p.Gly858Asp) c.2531G>A (p.Gly844Asp) c.1604G>A (p.Gly535Asp)
20	g.63406676C>A	CA409636436	KCNQ2	c.2641G>T (p.Gly881Cys) c.2587G>T (p.Gly863Cys) c.1984G>T (p.Gly662Cys) c.2494G>T (p.Gly832Cys) c.2155G>T (p.Gly719Cys) c.2503G>T (p.Gly835Cys) c.2241+370G>T (n.2241+370G>T) c.2205+370G>T (n.2205+370G>T) c.2533G>T (p.Gly845Cys) c.2133+370G>T (n.2133+370G>T) c.1680-5833G>T (n.1680-5833G>T) c.2629G>T (p.Gly877Cys) c.2695G>T (p.Gly899Cys) c.2692G>T (p.Gly898Cys) c.2665G>T (p.Gly889Cys) c.2611G>T (p.Gly871Cys) c.2584G>T (p.Gly862Cys) c.2569G>T (p.Gly857Cys) c.2176G>T (p.Gly726Cys) c.2638G>T (p.Gly880Cys) c.2575G>T (p.Gly859Cys) c.2572G>T (p.Gly858Cys) c.2530G>T (p.Gly844Cys) c.1603G>T (p.Gly535Cys)	gnomAD v4
20	g.63406676C>G	CA409636438	KCNQ2	c.2641G>C (p.Gly881Arg) c.2587G>C (p.Gly863Arg) c.1984G>C (p.Gly662Arg) c.2494G>C (p.Gly832Arg) c.2155G>C (p.Gly719Arg) c.2503G>C (p.Gly835Arg) c.2241+370G>C (n.2241+370G>C) c.2205+370G>C (n.2205+370G>C) c.2533G>C (p.Gly845Arg) c.2133+370G>C (n.2133+370G>C) c.1680-5833G>C (n.1680-5833G>C) c.2629G>C (p.Gly877Arg) c.2695G>C (p.Gly899Arg) c.2692G>C (p.Gly898Arg) c.2665G>C (p.Gly889Arg) c.2611G>C (p.Gly871Arg) c.2584G>C (p.Gly862Arg) c.2569G>C (p.Gly857Arg) c.2176G>C (p.Gly726Arg) c.2638G>C (p.Gly880Arg) c.2575G>C (p.Gly859Arg) c.2572G>C (p.Gly858Arg) c.2530G>C (p.Gly844Arg) c.1603G>C (p.Gly535Arg)	gnomAD v4
20	g.63406676C>T	CA409636440	KCNQ2	c.2641G>A (p.Gly881Ser) c.2587G>A (p.Gly863Ser) c.1984G>A (p.Gly662Ser) c.2494G>A (p.Gly832Ser) c.2155G>A (p.Gly719Ser) c.2503G>A (p.Gly835Ser) c.2241+370G>A (n.2241+370G>A) c.2205+370G>A (n.2205+370G>A) c.2533G>A (p.Gly845Ser) c.2133+370G>A (n.2133+370G>A) c.1680-5833G>A (n.1680-5833G>A) c.2629G>A (p.Gly877Ser) c.2695G>A (p.Gly899Ser) c.2692G>A (p.Gly898Ser) c.2665G>A (p.Gly889Ser) c.2611G>A (p.Gly871Ser) c.2584G>A (p.Gly862Ser) c.2569G>A (p.Gly857Ser) c.2176G>A (p.Gly726Ser) c.2638G>A (p.Gly880Ser) c.2575G>A (p.Gly859Ser) c.2572G>A (p.Gly858Ser) c.2530G>A (p.Gly844Ser) c.1603G>A (p.Gly535Ser)
20	g.63406677A=	CA2374774187	KCNQ2	c.2640T= (p.Phe880=) c.2586T= (p.Phe862=) c.1983T= (p.Phe661=) c.2493T= (p.Phe831=) c.2154T= (p.Phe718=) c.2502T= (p.Phe834=) c.2241+369T= (n.2241+369T=) c.2205+369T= (n.2205+369T=) c.2532T= (p.Phe844=) c.2133+369T= (n.2133+369T=) c.1680-5834T= (n.1680-5834T=) c.2628T= (p.Phe876=) c.2694T= (p.Phe898=) c.2691T= (p.Phe897=) c.2664T= (p.Phe888=) c.2610T= (p.Phe870=) c.2583T= (p.Phe861=) c.2568T= (p.Phe856=) c.2175T= (p.Phe725=) c.2637T= (p.Phe879=) c.2574T= (p.Phe858=) c.2571T= (p.Phe857=) c.2529T= (p.Phe843=) c.1602T= (p.Phe534=)
20	g.63406677A>C	CA409636444	KCNQ2	c.2640T>G (p.Phe880Leu) c.2586T>G (p.Phe862Leu) c.1983T>G (p.Phe661Leu) c.2493T>G (p.Phe831Leu) c.2154T>G (p.Phe718Leu) c.2502T>G (p.Phe834Leu) c.2241+369T>G (n.2241+369T>G) c.2205+369T>G (n.2205+369T>G) c.2532T>G (p.Phe844Leu) c.2133+369T>G (n.2133+369T>G) c.1680-5834T>G (n.1680-5834T>G) c.2628T>G (p.Phe876Leu) c.2694T>G (p.Phe898Leu) c.2691T>G (p.Phe897Leu) c.2664T>G (p.Phe888Leu) c.2610T>G (p.Phe870Leu) c.2583T>G (p.Phe861Leu) c.2568T>G (p.Phe856Leu) c.2175T>G (p.Phe725Leu) c.2637T>G (p.Phe879Leu) c.2574T>G (p.Phe858Leu) c.2571T>G (p.Phe857Leu) c.2529T>G (p.Phe843Leu) c.1602T>G (p.Phe534Leu)
20	g.63406677A>G	CA511339184	KCNQ2	c.2640T>C (p.Phe880=) c.2586T>C (p.Phe862=) c.1983T>C (p.Phe661=) c.2493T>C (p.Phe831=) c.2154T>C (p.Phe718=) c.2502T>C (p.Phe834=) c.2241+369T>C (n.2241+369T>C) c.2205+369T>C (n.2205+369T>C) c.2532T>C (p.Phe844=) c.2133+369T>C (n.2133+369T>C) c.1680-5834T>C (n.1680-5834T>C) c.2628T>C (p.Phe876=) c.2694T>C (p.Phe898=) c.2691T>C (p.Phe897=) c.2664T>C (p.Phe888=) c.2610T>C (p.Phe870=) c.2583T>C (p.Phe861=) c.2568T>C (p.Phe856=) c.2175T>C (p.Phe725=) c.2637T>C (p.Phe879=) c.2574T>C (p.Phe858=) c.2571T>C (p.Phe857=) c.2529T>C (p.Phe843=) c.1602T>C (p.Phe534=)	dbSNP gnomAD v2 gnomAD v4
20	g.63406677A>T	CA409636442	KCNQ2	c.2640T>A (p.Phe880Leu) c.2586T>A (p.Phe862Leu) c.1983T>A (p.Phe661Leu) c.2493T>A (p.Phe831Leu) c.2154T>A (p.Phe718Leu) c.2502T>A (p.Phe834Leu) c.2241+369T>A (n.2241+369T>A) c.2205+369T>A (n.2205+369T>A) c.2532T>A (p.Phe844Leu) c.2133+369T>A (n.2133+369T>A) c.1680-5834T>A (n.1680-5834T>A) c.2628T>A (p.Phe876Leu) c.2694T>A (p.Phe898Leu) c.2691T>A (p.Phe897Leu) c.2664T>A (p.Phe888Leu) c.2610T>A (p.Phe870Leu) c.2583T>A (p.Phe861Leu) c.2568T>A (p.Phe856Leu) c.2175T>A (p.Phe725Leu) c.2637T>A (p.Phe879Leu) c.2574T>A (p.Phe858Leu) c.2571T>A (p.Phe857Leu) c.2529T>A (p.Phe843Leu) c.1602T>A (p.Phe534Leu)
20	g.63406679del	CA2653804361	KCNQ2	c.2640del (p.Phe880LeufsTer?) c.2586del (p.Phe862LeufsTer?) c.1983del (p.Phe661LeufsTer?) c.2493del (p.Phe831LeufsTer?) c.2154del (p.Phe718LeufsTer?) c.2502del (p.Phe834LeufsTer?) c.2241+369del (n.2241+369del) c.2205+369del (n.2205+369del) c.2532del (p.Phe844LeufsTer?) c.2133+369del (n.2133+369del) c.1680-5834del (n.1680-5834del) c.2628del (p.Phe876LeufsTer?) c.2694del (p.Phe898LeufsTer?) c.2691del (p.Phe897LeufsTer?) c.2664del (p.Phe888LeufsTer?) c.2610del (p.Phe870LeufsTer?) c.2583del (p.Phe861LeufsTer?) c.2568del (p.Phe856LeufsTer?) c.2175del (p.Phe725LeufsTer?) c.2637del (p.Phe879LeufsTer?) c.2574del (p.Phe858LeufsTer?) c.2571del (p.Phe857LeufsTer?) c.2529del (p.Phe843LeufsTer?) c.1602del (p.Phe534LeufsTer?)	gnomAD v4
20	g.63406678A>C	CA409636446	KCNQ2	c.2639T>G (p.Phe880Cys) c.2585T>G (p.Phe862Cys) c.1982T>G (p.Phe661Cys) c.2492T>G (p.Phe831Cys) c.2153T>G (p.Phe718Cys) c.2501T>G (p.Phe834Cys) c.2241+368T>G (n.2241+368T>G) c.2205+368T>G (n.2205+368T>G) c.2531T>G (p.Phe844Cys) c.2133+368T>G (n.2133+368T>G) c.1680-5835T>G (n.1680-5835T>G) c.2627T>G (p.Phe876Cys) c.2693T>G (p.Phe898Cys) c.2690T>G (p.Phe897Cys) c.2663T>G (p.Phe888Cys) c.2609T>G (p.Phe870Cys) c.2582T>G (p.Phe861Cys) c.2567T>G (p.Phe856Cys) c.2174T>G (p.Phe725Cys) c.2636T>G (p.Phe879Cys) c.2573T>G (p.Phe858Cys) c.2570T>G (p.Phe857Cys) c.2528T>G (p.Phe843Cys) c.1601T>G (p.Phe534Cys)
20	g.63406678A>G	CA409636448	KCNQ2	c.2639T>C (p.Phe880Ser) c.2585T>C (p.Phe862Ser) c.1982T>C (p.Phe661Ser) c.2492T>C (p.Phe831Ser) c.2153T>C (p.Phe718Ser) c.2501T>C (p.Phe834Ser) c.2241+368T>C (n.2241+368T>C) c.2205+368T>C (n.2205+368T>C) c.2531T>C (p.Phe844Ser) c.2133+368T>C (n.2133+368T>C) c.1680-5835T>C (n.1680-5835T>C) c.2627T>C (p.Phe876Ser) c.2693T>C (p.Phe898Ser) c.2690T>C (p.Phe897Ser) c.2663T>C (p.Phe888Ser) c.2609T>C (p.Phe870Ser) c.2582T>C (p.Phe861Ser) c.2567T>C (p.Phe856Ser) c.2174T>C (p.Phe725Ser) c.2636T>C (p.Phe879Ser) c.2573T>C (p.Phe858Ser) c.2570T>C (p.Phe857Ser) c.2528T>C (p.Phe843Ser) c.1601T>C (p.Phe534Ser)
20	g.63406678A>T	CA409636450	KCNQ2	c.2639T>A (p.Phe880Tyr) c.2585T>A (p.Phe862Tyr) c.1982T>A (p.Phe661Tyr) c.2492T>A (p.Phe831Tyr) c.2153T>A (p.Phe718Tyr) c.2501T>A (p.Phe834Tyr) c.2241+368T>A (n.2241+368T>A) c.2205+368T>A (n.2205+368T>A) c.2531T>A (p.Phe844Tyr) c.2133+368T>A (n.2133+368T>A) c.1680-5835T>A (n.1680-5835T>A) c.2627T>A (p.Phe876Tyr) c.2693T>A (p.Phe898Tyr) c.2690T>A (p.Phe897Tyr) c.2663T>A (p.Phe888Tyr) c.2609T>A (p.Phe870Tyr) c.2582T>A (p.Phe861Tyr) c.2567T>A (p.Phe856Tyr) c.2174T>A (p.Phe725Tyr) c.2636T>A (p.Phe879Tyr) c.2573T>A (p.Phe858Tyr) c.2570T>A (p.Phe857Tyr) c.2528T>A (p.Phe843Tyr) c.1601T>A (p.Phe534Tyr)
20	g.63406679A=	CA2374774188	KCNQ2	c.2638T= (p.Phe880=) c.2584T= (p.Phe862=) c.1981T= (p.Phe661=) c.2491T= (p.Phe831=) c.2152T= (p.Phe718=) c.2500T= (p.Phe834=) c.2241+367T= (n.2241+367T=) c.2205+367T= (n.2205+367T=) c.2530T= (p.Phe844=) c.2133+367T= (n.2133+367T=) c.1680-5836T= (n.1680-5836T=) c.2626T= (p.Phe876=) c.2692T= (p.Phe898=) c.2689T= (p.Phe897=) c.2662T= (p.Phe888=) c.2608T= (p.Phe870=) c.2581T= (p.Phe861=) c.2566T= (p.Phe856=) c.2173T= (p.Phe725=) c.2635T= (p.Phe879=) c.2572T= (p.Phe858=) c.2569T= (p.Phe857=) c.2527T= (p.Phe843=) c.1600T= (p.Phe534=)
20	g.63406679A>C	CA409636452	KCNQ2	c.2638T>G (p.Phe880Val) c.2584T>G (p.Phe862Val) c.1981T>G (p.Phe661Val) c.2491T>G (p.Phe831Val) c.2152T>G (p.Phe718Val) c.2500T>G (p.Phe834Val) c.2241+367T>G (n.2241+367T>G) c.2205+367T>G (n.2205+367T>G) c.2530T>G (p.Phe844Val) c.2133+367T>G (n.2133+367T>G) c.1680-5836T>G (n.1680-5836T>G) c.2626T>G (p.Phe876Val) c.2692T>G (p.Phe898Val) c.2689T>G (p.Phe897Val) c.2662T>G (p.Phe888Val) c.2608T>G (p.Phe870Val) c.2581T>G (p.Phe861Val) c.2566T>G (p.Phe856Val) c.2173T>G (p.Phe725Val) c.2635T>G (p.Phe879Val) c.2572T>G (p.Phe858Val) c.2569T>G (p.Phe857Val) c.2527T>G (p.Phe843Val) c.1600T>G (p.Phe534Val)
20	g.63406679A>G	CA090955	KCNQ2	c.2638T>C (p.Phe880Leu) c.2584T>C (p.Phe862Leu) c.1981T>C (p.Phe661Leu) c.2491T>C (p.Phe831Leu) c.2152T>C (p.Phe718Leu) c.2500T>C (p.Phe834Leu) c.2241+367T>C (n.2241+367T>C) c.2205+367T>C (n.2205+367T>C) c.2530T>C (p.Phe844Leu) c.2133+367T>C (n.2133+367T>C) c.1680-5836T>C (n.1680-5836T>C) c.2626T>C (p.Phe876Leu) c.2692T>C (p.Phe898Leu) c.2689T>C (p.Phe897Leu) c.2662T>C (p.Phe888Leu) c.2608T>C (p.Phe870Leu) c.2581T>C (p.Phe861Leu) c.2566T>C (p.Phe856Leu) c.2173T>C (p.Phe725Leu) c.2635T>C (p.Phe879Leu) c.2572T>C (p.Phe858Leu) c.2569T>C (p.Phe857Leu) c.2527T>C (p.Phe843Leu) c.1600T>C (p.Phe534Leu)	ClinVar dbSNP gnomAD v4
20	g.63406679A>T	CA409636455	KCNQ2	c.2638T>A (p.Phe880Ile) c.2584T>A (p.Phe862Ile) c.1981T>A (p.Phe661Ile) c.2491T>A (p.Phe831Ile) c.2152T>A (p.Phe718Ile) c.2500T>A (p.Phe834Ile) c.2241+367T>A (n.2241+367T>A) c.2205+367T>A (n.2205+367T>A) c.2530T>A (p.Phe844Ile) c.2133+367T>A (n.2133+367T>A) c.1680-5836T>A (n.1680-5836T>A) c.2626T>A (p.Phe876Ile) c.2692T>A (p.Phe898Ile) c.2689T>A (p.Phe897Ile) c.2662T>A (p.Phe888Ile) c.2608T>A (p.Phe870Ile) c.2581T>A (p.Phe861Ile) c.2566T>A (p.Phe856Ile) c.2173T>A (p.Phe725Ile) c.2635T>A (p.Phe879Ile) c.2572T>A (p.Phe858Ile) c.2569T>A (p.Phe857Ile) c.2527T>A (p.Phe843Ile) c.1600T>A (p.Phe534Ile)
20	g.63406680G>A	CA511339185	KCNQ2	c.2637C>T (p.Pro879=) c.2583C>T (p.Pro861=) c.1980C>T (p.Pro660=) c.2490C>T (p.Pro830=) c.2151C>T (p.Pro717=) c.2499C>T (p.Pro833=) c.2241+366C>T (n.2241+366C>T) c.2205+366C>T (n.2205+366C>T) c.2529C>T (p.Pro843=) c.2133+366C>T (n.2133+366C>T) c.1680-5837C>T (n.1680-5837C>T) c.2625C>T (p.Pro875=) c.2691C>T (p.Pro897=) c.2688C>T (p.Pro896=) c.2661C>T (p.Pro887=) c.2607C>T (p.Pro869=) c.2580C>T (p.Pro860=) c.2565C>T (p.Pro855=) c.2172C>T (p.Pro724=) c.2634C>T (p.Pro878=) c.2571C>T (p.Pro857=) c.2568C>T (p.Pro856=) c.2526C>T (p.Pro842=) c.1599C>T (p.Pro533=)
20	g.63406680G>C	CA511339186	KCNQ2	c.2637C>G (p.Pro879=) c.2583C>G (p.Pro861=) c.1980C>G (p.Pro660=) c.2490C>G (p.Pro830=) c.2151C>G (p.Pro717=) c.2499C>G (p.Pro833=) c.2241+366C>G (n.2241+366C>G) c.2205+366C>G (n.2205+366C>G) c.2529C>G (p.Pro843=) c.2133+366C>G (n.2133+366C>G) c.1680-5837C>G (n.1680-5837C>G) c.2625C>G (p.Pro875=) c.2691C>G (p.Pro897=) c.2688C>G (p.Pro896=) c.2661C>G (p.Pro887=) c.2607C>G (p.Pro869=) c.2580C>G (p.Pro860=) c.2565C>G (p.Pro855=) c.2172C>G (p.Pro724=) c.2634C>G (p.Pro878=) c.2571C>G (p.Pro857=) c.2568C>G (p.Pro856=) c.2526C>G (p.Pro842=) c.1599C>G (p.Pro533=)	ClinVar
20	g.63406680G=	CA2374774189	KCNQ2	c.2637C= (p.Pro879=) c.2583C= (p.Pro861=) c.1980C= (p.Pro660=) c.2490C= (p.Pro830=) c.2151C= (p.Pro717=) c.2499C= (p.Pro833=) c.2241+366C= (n.2241+366C=) c.2205+366C= (n.2205+366C=) c.2529C= (p.Pro843=) c.2133+366C= (n.2133+366C=) c.1680-5837C= (n.1680-5837C=) c.2625C= (p.Pro875=) c.2691C= (p.Pro897=) c.2688C= (p.Pro896=) c.2661C= (p.Pro887=) c.2607C= (p.Pro869=) c.2580C= (p.Pro860=) c.2565C= (p.Pro855=) c.2172C= (p.Pro724=) c.2634C= (p.Pro878=) c.2571C= (p.Pro857=) c.2568C= (p.Pro856=) c.2526C= (p.Pro842=) c.1599C= (p.Pro533=)
20	g.63406680G>T	CA511339187	KCNQ2	c.2637C>A (p.Pro879=) c.2583C>A (p.Pro861=) c.1980C>A (p.Pro660=) c.2490C>A (p.Pro830=) c.2151C>A (p.Pro717=) c.2499C>A (p.Pro833=) c.2241+366C>A (n.2241+366C>A) c.2205+366C>A (n.2205+366C>A) c.2529C>A (p.Pro843=) c.2133+366C>A (n.2133+366C>A) c.1680-5837C>A (n.1680-5837C>A) c.2625C>A (p.Pro875=) c.2691C>A (p.Pro897=) c.2688C>A (p.Pro896=) c.2661C>A (p.Pro887=) c.2607C>A (p.Pro869=) c.2580C>A (p.Pro860=) c.2565C>A (p.Pro855=) c.2172C>A (p.Pro724=) c.2634C>A (p.Pro878=) c.2571C>A (p.Pro857=) c.2568C>A (p.Pro856=) c.2526C>A (p.Pro842=) c.1599C>A (p.Pro533=)	ClinVar dbSNP gnomAD v4
20	g.63406681G>A	CA409636457	KCNQ2	c.2636C>T (p.Pro879Leu) c.2582C>T (p.Pro861Leu) c.1979C>T (p.Pro660Leu) c.2489C>T (p.Pro830Leu) c.2150C>T (p.Pro717Leu) c.2498C>T (p.Pro833Leu) c.2241+365C>T (n.2241+365C>T) c.2205+365C>T (n.2205+365C>T) c.2528C>T (p.Pro843Leu) c.2133+365C>T (n.2133+365C>T) c.1680-5838C>T (n.1680-5838C>T) c.2624C>T (p.Pro875Leu) c.2690C>T (p.Pro897Leu) c.2687C>T (p.Pro896Leu) c.2660C>T (p.Pro887Leu) c.2606C>T (p.Pro869Leu) c.2579C>T (p.Pro860Leu) c.2564C>T (p.Pro855Leu) c.2171C>T (p.Pro724Leu) c.2633C>T (p.Pro878Leu) c.2570C>T (p.Pro857Leu) c.2567C>T (p.Pro856Leu) c.2525C>T (p.Pro842Leu) c.1598C>T (p.Pro533Leu)	gnomAD v4
20	g.63406681G>C	CA409636460	KCNQ2	c.2636C>G (p.Pro879Arg) c.2582C>G (p.Pro861Arg) c.1979C>G (p.Pro660Arg) c.2489C>G (p.Pro830Arg) c.2150C>G (p.Pro717Arg) c.2498C>G (p.Pro833Arg) c.2241+365C>G (n.2241+365C>G) c.2205+365C>G (n.2205+365C>G) c.2528C>G (p.Pro843Arg) c.2133+365C>G (n.2133+365C>G) c.1680-5838C>G (n.1680-5838C>G) c.2624C>G (p.Pro875Arg) c.2690C>G (p.Pro897Arg) c.2687C>G (p.Pro896Arg) c.2660C>G (p.Pro887Arg) c.2606C>G (p.Pro869Arg) c.2579C>G (p.Pro860Arg) c.2564C>G (p.Pro855Arg) c.2171C>G (p.Pro724Arg) c.2633C>G (p.Pro878Arg) c.2570C>G (p.Pro857Arg) c.2567C>G (p.Pro856Arg) c.2525C>G (p.Pro842Arg) c.1598C>G (p.Pro533Arg)
20	g.63406681G>T	CA409636462	KCNQ2	c.2636C>A (p.Pro879His) c.2582C>A (p.Pro861His) c.1979C>A (p.Pro660His) c.2489C>A (p.Pro830His) c.2150C>A (p.Pro717His) c.2498C>A (p.Pro833His) c.2241+365C>A (n.2241+365C>A) c.2205+365C>A (n.2205+365C>A) c.2528C>A (p.Pro843His) c.2133+365C>A (n.2133+365C>A) c.1680-5838C>A (n.1680-5838C>A) c.2624C>A (p.Pro875His) c.2690C>A (p.Pro897His) c.2687C>A (p.Pro896His) c.2660C>A (p.Pro887His) c.2606C>A (p.Pro869His) c.2579C>A (p.Pro860His) c.2564C>A (p.Pro855His) c.2171C>A (p.Pro724His) c.2633C>A (p.Pro878His) c.2570C>A (p.Pro857His) c.2567C>A (p.Pro856His) c.2525C>A (p.Pro842His) c.1598C>A (p.Pro533His)	gnomAD v4
20	g.63406682G>A	CA409636464	KCNQ2	c.2635C>T (p.Pro879Ser) c.2581C>T (p.Pro861Ser) c.1978C>T (p.Pro660Ser) c.2488C>T (p.Pro830Ser) c.2149C>T (p.Pro717Ser) c.2497C>T (p.Pro833Ser) c.2241+364C>T (n.2241+364C>T) c.2205+364C>T (n.2205+364C>T) c.2527C>T (p.Pro843Ser) c.2133+364C>T (n.2133+364C>T) c.1680-5839C>T (n.1680-5839C>T) c.2623C>T (p.Pro875Ser) c.2689C>T (p.Pro897Ser) c.2686C>T (p.Pro896Ser) c.2659C>T (p.Pro887Ser) c.2605C>T (p.Pro869Ser) c.2578C>T (p.Pro860Ser) c.2563C>T (p.Pro855Ser) c.2170C>T (p.Pro724Ser) c.2632C>T (p.Pro878Ser) c.2569C>T (p.Pro857Ser) c.2566C>T (p.Pro856Ser) c.2524C>T (p.Pro842Ser) c.1597C>T (p.Pro533Ser)	dbSNP gnomAD v4
20	g.63406682G>C	CA409636465	KCNQ2	c.2635C>G (p.Pro879Ala) c.2581C>G (p.Pro861Ala) c.1978C>G (p.Pro660Ala) c.2488C>G (p.Pro830Ala) c.2149C>G (p.Pro717Ala) c.2497C>G (p.Pro833Ala) c.2241+364C>G (n.2241+364C>G) c.2205+364C>G (n.2205+364C>G) c.2527C>G (p.Pro843Ala) c.2133+364C>G (n.2133+364C>G) c.1680-5839C>G (n.1680-5839C>G) c.2623C>G (p.Pro875Ala) c.2689C>G (p.Pro897Ala) c.2686C>G (p.Pro896Ala) c.2659C>G (p.Pro887Ala) c.2605C>G (p.Pro869Ala) c.2578C>G (p.Pro860Ala) c.2563C>G (p.Pro855Ala) c.2170C>G (p.Pro724Ala) c.2632C>G (p.Pro878Ala) c.2569C>G (p.Pro857Ala) c.2566C>G (p.Pro856Ala) c.2524C>G (p.Pro842Ala) c.1597C>G (p.Pro533Ala)
20	g.63406682G=	CA2374774190	KCNQ2	c.2635C= (p.Pro879=) c.2581C= (p.Pro861=) c.1978C= (p.Pro660=) c.2488C= (p.Pro830=) c.2149C= (p.Pro717=) c.2497C= (p.Pro833=) c.2241+364C= (n.2241+364C=) c.2205+364C= (n.2205+364C=) c.2527C= (p.Pro843=) c.2133+364C= (n.2133+364C=) c.1680-5839C= (n.1680-5839C=) c.2623C= (p.Pro875=) c.2689C= (p.Pro897=) c.2686C= (p.Pro896=) c.2659C= (p.Pro887=) c.2605C= (p.Pro869=) c.2578C= (p.Pro860=) c.2563C= (p.Pro855=) c.2170C= (p.Pro724=) c.2632C= (p.Pro878=) c.2569C= (p.Pro857=) c.2566C= (p.Pro856=) c.2524C= (p.Pro842=) c.1597C= (p.Pro533=)
20	g.63406682G>T	CA409636466	KCNQ2	c.2635C>A (p.Pro879Thr) c.2581C>A (p.Pro861Thr) c.1978C>A (p.Pro660Thr) c.2488C>A (p.Pro830Thr) c.2149C>A (p.Pro717Thr) c.2497C>A (p.Pro833Thr) c.2241+364C>A (n.2241+364C>A) c.2205+364C>A (n.2205+364C>A) c.2527C>A (p.Pro843Thr) c.2133+364C>A (n.2133+364C>A) c.1680-5839C>A (n.1680-5839C>A) c.2623C>A (p.Pro875Thr) c.2689C>A (p.Pro897Thr) c.2686C>A (p.Pro896Thr) c.2659C>A (p.Pro887Thr) c.2605C>A (p.Pro869Thr) c.2578C>A (p.Pro860Thr) c.2563C>A (p.Pro855Thr) c.2170C>A (p.Pro724Thr) c.2632C>A (p.Pro878Thr) c.2569C>A (p.Pro857Thr) c.2566C>A (p.Pro856Thr) c.2524C>A (p.Pro842Thr) c.1597C>A (p.Pro533Thr)	gnomAD v4
20	g.63406683A>C	CA511339188	KCNQ2	c.2634T>G (p.Gly878=) c.2580T>G (p.Gly860=) c.1977T>G (p.Gly659=) c.2487T>G (p.Gly829=) c.2148T>G (p.Gly716=) c.2496T>G (p.Gly832=) c.2241+363T>G (n.2241+363T>G) c.2205+363T>G (n.2205+363T>G) c.2526T>G (p.Gly842=) c.2133+363T>G (n.2133+363T>G) c.1680-5840T>G (n.1680-5840T>G) c.2622T>G (p.Gly874=) c.2688T>G (p.Gly896=) c.2685T>G (p.Gly895=) c.2658T>G (p.Gly886=) c.2604T>G (p.Gly868=) c.2577T>G (p.Gly859=) c.2562T>G (p.Gly854=) c.2169T>G (p.Gly723=) c.2631T>G (p.Gly877=) c.2568T>G (p.Gly856=) c.2565T>G (p.Gly855=) c.2523T>G (p.Gly841=) c.1596T>G (p.Gly532=)
20	g.63406683A>G	CA511339189	KCNQ2	c.2634T>C (p.Gly878=) c.2580T>C (p.Gly860=) c.1977T>C (p.Gly659=) c.2487T>C (p.Gly829=) c.2148T>C (p.Gly716=) c.2496T>C (p.Gly832=) c.2241+363T>C (n.2241+363T>C) c.2205+363T>C (n.2205+363T>C) c.2526T>C (p.Gly842=) c.2133+363T>C (n.2133+363T>C) c.1680-5840T>C (n.1680-5840T>C) c.2622T>C (p.Gly874=) c.2688T>C (p.Gly896=) c.2685T>C (p.Gly895=) c.2658T>C (p.Gly886=) c.2604T>C (p.Gly868=) c.2577T>C (p.Gly859=) c.2562T>C (p.Gly854=) c.2169T>C (p.Gly723=) c.2631T>C (p.Gly877=) c.2568T>C (p.Gly856=) c.2565T>C (p.Gly855=) c.2523T>C (p.Gly841=) c.1596T>C (p.Gly532=)	gnomAD v4
20	g.63406683A>T	CA511339190	KCNQ2	c.2634T>A (p.Gly878=) c.2580T>A (p.Gly860=) c.1977T>A (p.Gly659=) c.2487T>A (p.Gly829=) c.2148T>A (p.Gly716=) c.2496T>A (p.Gly832=) c.2241+363T>A (n.2241+363T>A) c.2205+363T>A (n.2205+363T>A) c.2526T>A (p.Gly842=) c.2133+363T>A (n.2133+363T>A) c.1680-5840T>A (n.1680-5840T>A) c.2622T>A (p.Gly874=) c.2688T>A (p.Gly896=) c.2685T>A (p.Gly895=) c.2658T>A (p.Gly886=) c.2604T>A (p.Gly868=) c.2577T>A (p.Gly859=) c.2562T>A (p.Gly854=) c.2169T>A (p.Gly723=) c.2631T>A (p.Gly877=) c.2568T>A (p.Gly856=) c.2565T>A (p.Gly855=) c.2523T>A (p.Gly841=) c.1596T>A (p.Gly532=)
20	g.63406684C>A	CA409636471	KCNQ2	c.2633G>T (p.Gly878Val) c.2579G>T (p.Gly860Val) c.1976G>T (p.Gly659Val) c.2486G>T (p.Gly829Val) c.2147G>T (p.Gly716Val) c.2495G>T (p.Gly832Val) c.2241+362G>T (n.2241+362G>T) c.2205+362G>T (n.2205+362G>T) c.2525G>T (p.Gly842Val) c.2133+362G>T (n.2133+362G>T) c.1680-5841G>T (n.1680-5841G>T) c.2621G>T (p.Gly874Val) c.2687G>T (p.Gly896Val) c.2684G>T (p.Gly895Val) c.2657G>T (p.Gly886Val) c.2603G>T (p.Gly868Val) c.2576G>T (p.Gly859Val) c.2561G>T (p.Gly854Val) c.2168G>T (p.Gly723Val) c.2630G>T (p.Gly877Val) c.2567G>T (p.Gly856Val) c.2564G>T (p.Gly855Val) c.2522G>T (p.Gly841Val) c.1595G>T (p.Gly532Val)	dbSNP gnomAD v2 gnomAD v4
20	g.63406684C=	CA2374774191	KCNQ2	c.2633G= (p.Gly878=) c.2579G= (p.Gly860=) c.1976G= (p.Gly659=) c.2486G= (p.Gly829=) c.2147G= (p.Gly716=) c.2495G= (p.Gly832=) c.2241+362G= (n.2241+362G=) c.2205+362G= (n.2205+362G=) c.2525G= (p.Gly842=) c.2133+362G= (n.2133+362G=) c.1680-5841G= (n.1680-5841G=) c.2621G= (p.Gly874=) c.2687G= (p.Gly896=) c.2684G= (p.Gly895=) c.2657G= (p.Gly886=) c.2603G= (p.Gly868=) c.2576G= (p.Gly859=) c.2561G= (p.Gly854=) c.2168G= (p.Gly723=) c.2630G= (p.Gly877=) c.2567G= (p.Gly856=) c.2564G= (p.Gly855=) c.2522G= (p.Gly841=) c.1595G= (p.Gly532=)
20	g.63406684C>G	CA409636469	KCNQ2	c.2633G>C (p.Gly878Ala) c.2579G>C (p.Gly860Ala) c.1976G>C (p.Gly659Ala) c.2486G>C (p.Gly829Ala) c.2147G>C (p.Gly716Ala) c.2495G>C (p.Gly832Ala) c.2241+362G>C (n.2241+362G>C) c.2205+362G>C (n.2205+362G>C) c.2525G>C (p.Gly842Ala) c.2133+362G>C (n.2133+362G>C) c.1680-5841G>C (n.1680-5841G>C) c.2621G>C (p.Gly874Ala) c.2687G>C (p.Gly896Ala) c.2684G>C (p.Gly895Ala) c.2657G>C (p.Gly886Ala) c.2603G>C (p.Gly868Ala) c.2576G>C (p.Gly859Ala) c.2561G>C (p.Gly854Ala) c.2168G>C (p.Gly723Ala) c.2630G>C (p.Gly877Ala) c.2567G>C (p.Gly856Ala) c.2564G>C (p.Gly855Ala) c.2522G>C (p.Gly841Ala) c.1595G>C (p.Gly532Ala)
20	g.63406684C>T	CA409636468	KCNQ2	c.2633G>A (p.Gly878Asp) c.2579G>A (p.Gly860Asp) c.1976G>A (p.Gly659Asp) c.2486G>A (p.Gly829Asp) c.2147G>A (p.Gly716Asp) c.2495G>A (p.Gly832Asp) c.2241+362G>A (n.2241+362G>A) c.2205+362G>A (n.2205+362G>A) c.2525G>A (p.Gly842Asp) c.2133+362G>A (n.2133+362G>A) c.1680-5841G>A (n.1680-5841G>A) c.2621G>A (p.Gly874Asp) c.2687G>A (p.Gly896Asp) c.2684G>A (p.Gly895Asp) c.2657G>A (p.Gly886Asp) c.2603G>A (p.Gly868Asp) c.2576G>A (p.Gly859Asp) c.2561G>A (p.Gly854Asp) c.2168G>A (p.Gly723Asp) c.2630G>A (p.Gly877Asp) c.2567G>A (p.Gly856Asp) c.2564G>A (p.Gly855Asp) c.2522G>A (p.Gly841Asp) c.1595G>A (p.Gly532Asp)
20	g.63406685C>A	CA409636473	KCNQ2	c.2632G>T (p.Gly878Cys) c.2578G>T (p.Gly860Cys) c.1975G>T (p.Gly659Cys) c.2485G>T (p.Gly829Cys) c.2146G>T (p.Gly716Cys) c.2494G>T (p.Gly832Cys) c.2241+361G>T (n.2241+361G>T) c.2205+361G>T (n.2205+361G>T) c.2524G>T (p.Gly842Cys) c.2133+361G>T (n.2133+361G>T) c.1680-5842G>T (n.1680-5842G>T) c.2620G>T (p.Gly874Cys) c.2686G>T (p.Gly896Cys) c.2683G>T (p.Gly895Cys) c.2656G>T (p.Gly886Cys) c.2602G>T (p.Gly868Cys) c.2575G>T (p.Gly859Cys) c.2560G>T (p.Gly854Cys) c.2167G>T (p.Gly723Cys) c.2629G>T (p.Gly877Cys) c.2566G>T (p.Gly856Cys) c.2563G>T (p.Gly855Cys) c.2521G>T (p.Gly841Cys) c.1594G>T (p.Gly532Cys)	gnomAD v4
20	g.63406685C>G	CA409636475	KCNQ2	c.2632G>C (p.Gly878Arg) c.2578G>C (p.Gly860Arg) c.1975G>C (p.Gly659Arg) c.2485G>C (p.Gly829Arg) c.2146G>C (p.Gly716Arg) c.2494G>C (p.Gly832Arg) c.2241+361G>C (n.2241+361G>C) c.2205+361G>C (n.2205+361G>C) c.2524G>C (p.Gly842Arg) c.2133+361G>C (n.2133+361G>C) c.1680-5842G>C (n.1680-5842G>C) c.2620G>C (p.Gly874Arg) c.2686G>C (p.Gly896Arg) c.2683G>C (p.Gly895Arg) c.2656G>C (p.Gly886Arg) c.2602G>C (p.Gly868Arg) c.2575G>C (p.Gly859Arg) c.2560G>C (p.Gly854Arg) c.2167G>C (p.Gly723Arg) c.2629G>C (p.Gly877Arg) c.2566G>C (p.Gly856Arg) c.2563G>C (p.Gly855Arg) c.2521G>C (p.Gly841Arg) c.1594G>C (p.Gly532Arg)	ClinVar
20	g.63406685C>T	CA409636477	KCNQ2	c.2632G>A (p.Gly878Ser) c.2578G>A (p.Gly860Ser) c.1975G>A (p.Gly659Ser) c.2485G>A (p.Gly829Ser) c.2146G>A (p.Gly716Ser) c.2494G>A (p.Gly832Ser) c.2241+361G>A (n.2241+361G>A) c.2205+361G>A (n.2205+361G>A) c.2524G>A (p.Gly842Ser) c.2133+361G>A (n.2133+361G>A) c.1680-5842G>A (n.1680-5842G>A) c.2620G>A (p.Gly874Ser) c.2686G>A (p.Gly896Ser) c.2683G>A (p.Gly895Ser) c.2656G>A (p.Gly886Ser) c.2602G>A (p.Gly868Ser) c.2575G>A (p.Gly859Ser) c.2560G>A (p.Gly854Ser) c.2167G>A (p.Gly723Ser) c.2629G>A (p.Gly877Ser) c.2566G>A (p.Gly856Ser) c.2563G>A (p.Gly855Ser) c.2521G>A (p.Gly841Ser) c.1594G>A (p.Gly532Ser)	gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406686C>A	CA409636479	KCNQ2	c.2631G>T (p.Glu877Asp) c.2577G>T (p.Glu859Asp) c.1974G>T (p.Glu658Asp) c.2484G>T (p.Glu828Asp) c.2145G>T (p.Glu715Asp) c.2493G>T (p.Glu831Asp) c.2241+360G>T (n.2241+360G>T) c.2205+360G>T (n.2205+360G>T) c.2523G>T (p.Glu841Asp) c.2133+360G>T (n.2133+360G>T) c.1680-5843G>T (n.1680-5843G>T) c.2619G>T (p.Glu873Asp) c.2685G>T (p.Glu895Asp) c.2682G>T (p.Glu894Asp) c.2655G>T (p.Glu885Asp) c.2601G>T (p.Glu867Asp) c.2574G>T (p.Glu858Asp) c.2559G>T (p.Glu853Asp) c.2166G>T (p.Glu722Asp) c.2628G>T (p.Glu876Asp) c.2565G>T (p.Glu855Asp) c.2562G>T (p.Glu854Asp) c.2520G>T (p.Glu840Asp) c.1593G>T (p.Glu531Asp)	gnomAD v4
20	g.63406686C=	CA2374774192	KCNQ2	c.2631G= (p.Glu877=) c.2577G= (p.Glu859=) c.1974G= (p.Glu658=) c.2484G= (p.Glu828=) c.2145G= (p.Glu715=) c.2493G= (p.Glu831=) c.2241+360G= (n.2241+360G=) c.2205+360G= (n.2205+360G=) c.2523G= (p.Glu841=) c.2133+360G= (n.2133+360G=) c.1680-5843G= (n.1680-5843G=) c.2619G= (p.Glu873=) c.2685G= (p.Glu895=) c.2682G= (p.Glu894=) c.2655G= (p.Glu885=) c.2601G= (p.Glu867=) c.2574G= (p.Glu858=) c.2559G= (p.Glu853=) c.2166G= (p.Glu722=) c.2628G= (p.Glu876=) c.2565G= (p.Glu855=) c.2562G= (p.Glu854=) c.2520G= (p.Glu840=) c.1593G= (p.Glu531=)
20	g.63406686C>G	CA409636481	KCNQ2	c.2631G>C (p.Glu877Asp) c.2577G>C (p.Glu859Asp) c.1974G>C (p.Glu658Asp) c.2484G>C (p.Glu828Asp) c.2145G>C (p.Glu715Asp) c.2493G>C (p.Glu831Asp) c.2241+360G>C (n.2241+360G>C) c.2205+360G>C (n.2205+360G>C) c.2523G>C (p.Glu841Asp) c.2133+360G>C (n.2133+360G>C) c.1680-5843G>C (n.1680-5843G>C) c.2619G>C (p.Glu873Asp) c.2685G>C (p.Glu895Asp) c.2682G>C (p.Glu894Asp) c.2655G>C (p.Glu885Asp) c.2601G>C (p.Glu867Asp) c.2574G>C (p.Glu858Asp) c.2559G>C (p.Glu853Asp) c.2166G>C (p.Glu722Asp) c.2628G>C (p.Glu876Asp) c.2565G>C (p.Glu855Asp) c.2562G>C (p.Glu854Asp) c.2520G>C (p.Glu840Asp) c.1593G>C (p.Glu531Asp)	gnomAD v4
20	g.63406686C>T	CA511339191	KCNQ2	c.2631G>A (p.Glu877=) c.2577G>A (p.Glu859=) c.1974G>A (p.Glu658=) c.2484G>A (p.Glu828=) c.2145G>A (p.Glu715=) c.2493G>A (p.Glu831=) c.2241+360G>A (n.2241+360G>A) c.2205+360G>A (n.2205+360G>A) c.2523G>A (p.Glu841=) c.2133+360G>A (n.2133+360G>A) c.1680-5843G>A (n.1680-5843G>A) c.2619G>A (p.Glu873=) c.2685G>A (p.Glu895=) c.2682G>A (p.Glu894=) c.2655G>A (p.Glu885=) c.2601G>A (p.Glu867=) c.2574G>A (p.Glu858=) c.2559G>A (p.Glu853=) c.2166G>A (p.Glu722=) c.2628G>A (p.Glu876=) c.2565G>A (p.Glu855=) c.2562G>A (p.Glu854=) c.2520G>A (p.Glu840=) c.1593G>A (p.Glu531=)	ClinVar dbSNP
20	g.63406687T>A	CA317421522	KCNQ2	c.2630A>T (p.Glu877Val) c.2576A>T (p.Glu859Val) c.1973A>T (p.Glu658Val) c.2483A>T (p.Glu828Val) c.2144A>T (p.Glu715Val) c.2492A>T (p.Glu831Val) c.2241+359A>T (n.2241+359A>T) c.2205+359A>T (n.2205+359A>T) c.2522A>T (p.Glu841Val) c.2133+359A>T (n.2133+359A>T) c.1680-5844A>T (n.1680-5844A>T) c.2618A>T (p.Glu873Val) c.2684A>T (p.Glu895Val) c.2681A>T (p.Glu894Val) c.2654A>T (p.Glu885Val) c.2600A>T (p.Glu867Val) c.2573A>T (p.Glu858Val) c.2558A>T (p.Glu853Val) c.2165A>T (p.Glu722Val) c.2627A>T (p.Glu876Val) c.2564A>T (p.Glu855Val) c.2561A>T (p.Glu854Val) c.2519A>T (p.Glu840Val) c.1592A>T (p.Glu531Val)	dbSNP
20	g.63406687T>C	CA409636484	KCNQ2	c.2630A>G (p.Glu877Gly) c.2576A>G (p.Glu859Gly) c.1973A>G (p.Glu658Gly) c.2483A>G (p.Glu828Gly) c.2144A>G (p.Glu715Gly) c.2492A>G (p.Glu831Gly) c.2241+359A>G (n.2241+359A>G) c.2205+359A>G (n.2205+359A>G) c.2522A>G (p.Glu841Gly) c.2133+359A>G (n.2133+359A>G) c.1680-5844A>G (n.1680-5844A>G) c.2618A>G (p.Glu873Gly) c.2684A>G (p.Glu895Gly) c.2681A>G (p.Glu894Gly) c.2654A>G (p.Glu885Gly) c.2600A>G (p.Glu867Gly) c.2573A>G (p.Glu858Gly) c.2558A>G (p.Glu853Gly) c.2165A>G (p.Glu722Gly) c.2627A>G (p.Glu876Gly) c.2564A>G (p.Glu855Gly) c.2561A>G (p.Glu854Gly) c.2519A>G (p.Glu840Gly) c.1592A>G (p.Glu531Gly)
20	g.63406687T>G	CA409636486	KCNQ2	c.2630A>C (p.Glu877Ala) c.2576A>C (p.Glu859Ala) c.1973A>C (p.Glu658Ala) c.2483A>C (p.Glu828Ala) c.2144A>C (p.Glu715Ala) c.2492A>C (p.Glu831Ala) c.2241+359A>C (n.2241+359A>C) c.2205+359A>C (n.2205+359A>C) c.2522A>C (p.Glu841Ala) c.2133+359A>C (n.2133+359A>C) c.1680-5844A>C (n.1680-5844A>C) c.2618A>C (p.Glu873Ala) c.2684A>C (p.Glu895Ala) c.2681A>C (p.Glu894Ala) c.2654A>C (p.Glu885Ala) c.2600A>C (p.Glu867Ala) c.2573A>C (p.Glu858Ala) c.2558A>C (p.Glu853Ala) c.2165A>C (p.Glu722Ala) c.2627A>C (p.Glu876Ala) c.2564A>C (p.Glu855Ala) c.2561A>C (p.Glu854Ala) c.2519A>C (p.Glu840Ala) c.1592A>C (p.Glu531Ala)
20	g.63406687T=	CA2374774193	KCNQ2	c.2630A= (p.Glu877=) c.2576A= (p.Glu859=) c.1973A= (p.Glu658=) c.2483A= (p.Glu828=) c.2144A= (p.Glu715=) c.2492A= (p.Glu831=) c.2241+359A= (n.2241+359A=) c.2205+359A= (n.2205+359A=) c.2522A= (p.Glu841=) c.2133+359A= (n.2133+359A=) c.1680-5844A= (n.1680-5844A=) c.2618A= (p.Glu873=) c.2684A= (p.Glu895=) c.2681A= (p.Glu894=) c.2654A= (p.Glu885=) c.2600A= (p.Glu867=) c.2573A= (p.Glu858=) c.2558A= (p.Glu853=) c.2165A= (p.Glu722=) c.2627A= (p.Glu876=) c.2564A= (p.Glu855=) c.2561A= (p.Glu854=) c.2519A= (p.Glu840=) c.1592A= (p.Glu531=)
20	g.63406688C>A	CA409636489	KCNQ2	c.2629G>T (p.Glu877Ter) c.2575G>T (p.Glu859Ter) c.1972G>T (p.Glu658Ter) c.2482G>T (p.Glu828Ter) c.2143G>T (p.Glu715Ter) c.2491G>T (p.Glu831Ter) c.2241+358G>T (n.2241+358G>T) c.2205+358G>T (n.2205+358G>T) c.2521G>T (p.Glu841Ter) c.2133+358G>T (n.2133+358G>T) c.1680-5845G>T (n.1680-5845G>T) c.2617G>T (p.Glu873Ter) c.2683G>T (p.Glu895Ter) c.2680G>T (p.Glu894Ter) c.2653G>T (p.Glu885Ter) c.2599G>T (p.Glu867Ter) c.2572G>T (p.Glu858Ter) c.2557G>T (p.Glu853Ter) c.2164G>T (p.Glu722Ter) c.2626G>T (p.Glu876Ter) c.2563G>T (p.Glu855Ter) c.2560G>T (p.Glu854Ter) c.2518G>T (p.Glu840Ter) c.1591G>T (p.Glu531Ter)	gnomAD v4
20	g.63406688C>G	CA409636490	KCNQ2	c.2629G>C (p.Glu877Gln) c.2575G>C (p.Glu859Gln) c.1972G>C (p.Glu658Gln) c.2482G>C (p.Glu828Gln) c.2143G>C (p.Glu715Gln) c.2491G>C (p.Glu831Gln) c.2241+358G>C (n.2241+358G>C) c.2205+358G>C (n.2205+358G>C) c.2521G>C (p.Glu841Gln) c.2133+358G>C (n.2133+358G>C) c.1680-5845G>C (n.1680-5845G>C) c.2617G>C (p.Glu873Gln) c.2683G>C (p.Glu895Gln) c.2680G>C (p.Glu894Gln) c.2653G>C (p.Glu885Gln) c.2599G>C (p.Glu867Gln) c.2572G>C (p.Glu858Gln) c.2557G>C (p.Glu853Gln) c.2164G>C (p.Glu722Gln) c.2626G>C (p.Glu876Gln) c.2563G>C (p.Glu855Gln) c.2560G>C (p.Glu854Gln) c.2518G>C (p.Glu840Gln) c.1591G>C (p.Glu531Gln)
20	g.63406688C>T	CA409636491	KCNQ2	c.2629G>A (p.Glu877Lys) c.2575G>A (p.Glu859Lys) c.1972G>A (p.Glu658Lys) c.2482G>A (p.Glu828Lys) c.2143G>A (p.Glu715Lys) c.2491G>A (p.Glu831Lys) c.2241+358G>A (n.2241+358G>A) c.2205+358G>A (n.2205+358G>A) c.2521G>A (p.Glu841Lys) c.2133+358G>A (n.2133+358G>A) c.1680-5845G>A (n.1680-5845G>A) c.2617G>A (p.Glu873Lys) c.2683G>A (p.Glu895Lys) c.2680G>A (p.Glu894Lys) c.2653G>A (p.Glu885Lys) c.2599G>A (p.Glu867Lys) c.2572G>A (p.Glu858Lys) c.2557G>A (p.Glu853Lys) c.2164G>A (p.Glu722Lys) c.2626G>A (p.Glu876Lys) c.2563G>A (p.Glu855Lys) c.2560G>A (p.Glu854Lys) c.2518G>A (p.Glu840Lys) c.1591G>A (p.Glu531Lys)	ClinVar gnomAD v4
20	g.63406689G>A	CA9958055	KCNQ2	c.2628C>T (p.Gly876=) c.2574C>T (p.Gly858=) c.1971C>T (p.Gly657=) c.2481C>T (p.Gly827=) c.2142C>T (p.Gly714=) c.2490C>T (p.Gly830=) c.2241+357C>T (n.2241+357C>T) c.2205+357C>T (n.2205+357C>T) c.2520C>T (p.Gly840=) c.2133+357C>T (n.2133+357C>T) c.1680-5846C>T (n.1680-5846C>T) c.2616C>T (p.Gly872=) c.2682C>T (p.Gly894=) c.2679C>T (p.Gly893=) c.2652C>T (p.Gly884=) c.2598C>T (p.Gly866=) c.2571C>T (p.Gly857=) c.2556C>T (p.Gly852=) c.2163C>T (p.Gly721=) c.2625C>T (p.Gly875=) c.2562C>T (p.Gly854=) c.2559C>T (p.Gly853=) c.2517C>T (p.Gly839=) c.1590C>T (p.Gly530=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406689G>C	CA511339192	KCNQ2	c.2628C>G (p.Gly876=) c.2574C>G (p.Gly858=) c.1971C>G (p.Gly657=) c.2481C>G (p.Gly827=) c.2142C>G (p.Gly714=) c.2490C>G (p.Gly830=) c.2241+357C>G (n.2241+357C>G) c.2205+357C>G (n.2205+357C>G) c.2520C>G (p.Gly840=) c.2133+357C>G (n.2133+357C>G) c.1680-5846C>G (n.1680-5846C>G) c.2616C>G (p.Gly872=) c.2682C>G (p.Gly894=) c.2679C>G (p.Gly893=) c.2652C>G (p.Gly884=) c.2598C>G (p.Gly866=) c.2571C>G (p.Gly857=) c.2556C>G (p.Gly852=) c.2163C>G (p.Gly721=) c.2625C>G (p.Gly875=) c.2562C>G (p.Gly854=) c.2559C>G (p.Gly853=) c.2517C>G (p.Gly839=) c.1590C>G (p.Gly530=)
20	g.63406689G=	CA2374774194	KCNQ2	c.2628C= (p.Gly876=) c.2574C= (p.Gly858=) c.1971C= (p.Gly657=) c.2481C= (p.Gly827=) c.2142C= (p.Gly714=) c.2490C= (p.Gly830=) c.2241+357C= (n.2241+357C=) c.2205+357C= (n.2205+357C=) c.2520C= (p.Gly840=) c.2133+357C= (n.2133+357C=) c.1680-5846C= (n.1680-5846C=) c.2616C= (p.Gly872=) c.2682C= (p.Gly894=) c.2679C= (p.Gly893=) c.2652C= (p.Gly884=) c.2598C= (p.Gly866=) c.2571C= (p.Gly857=) c.2556C= (p.Gly852=) c.2163C= (p.Gly721=) c.2625C= (p.Gly875=) c.2562C= (p.Gly854=) c.2559C= (p.Gly853=) c.2517C= (p.Gly839=) c.1590C= (p.Gly530=)
20	g.63406689G>T	CA511339193	KCNQ2	c.2628C>A (p.Gly876=) c.2574C>A (p.Gly858=) c.1971C>A (p.Gly657=) c.2481C>A (p.Gly827=) c.2142C>A (p.Gly714=) c.2490C>A (p.Gly830=) c.2241+357C>A (n.2241+357C>A) c.2205+357C>A (n.2205+357C>A) c.2520C>A (p.Gly840=) c.2133+357C>A (n.2133+357C>A) c.1680-5846C>A (n.1680-5846C>A) c.2616C>A (p.Gly872=) c.2682C>A (p.Gly894=) c.2679C>A (p.Gly893=) c.2652C>A (p.Gly884=) c.2598C>A (p.Gly866=) c.2571C>A (p.Gly857=) c.2556C>A (p.Gly852=) c.2163C>A (p.Gly721=) c.2625C>A (p.Gly875=) c.2562C>A (p.Gly854=) c.2559C>A (p.Gly853=) c.2517C>A (p.Gly839=) c.1590C>A (p.Gly530=)
20	g.63406693_63406699del	CA2499225797	KCNQ2	c.2622_2628del (p.Thr875ArgfsTer?) c.2568_2574del (p.Thr857ArgfsTer?) c.1965_1971del (p.Thr656ArgfsTer?) c.2475_2481del (p.Thr826ArgfsTer?) c.2136_2142del (p.Thr713ArgfsTer?) c.2484_2490del (p.Thr829ArgfsTer?) c.2241+351_2241+357del (n.2241+351_2241+357del) c.2205+351_2205+357del (n.2205+351_2205+357del) c.2514_2520del (p.Thr839ArgfsTer?) c.2133+351_2133+357del (n.2133+351_2133+357del) c.1680-5852_1680-5846del (n.1680-5852_1680-5846del) c.2610_2616del (p.Thr871ArgfsTer?) c.2676_2682del (p.Thr893ArgfsTer?) c.2673_2679del (p.Thr892ArgfsTer?) c.2646_2652del (p.Thr883ArgfsTer?) c.2592_2598del (p.Thr865ArgfsTer?) c.2565_2571del (p.Thr856ArgfsTer?) c.2550_2556del (p.Thr851ArgfsTer?) c.2157_2163del (p.Thr720ArgfsTer?) c.2619_2625del (p.Thr874ArgfsTer?) c.2556_2562del (p.Thr853ArgfsTer?) c.2553_2559del (p.Thr852ArgfsTer?) c.2511_2517del (p.Thr838ArgfsTer?) c.1584_1590del (p.Thr529ArgfsTer?)	ClinVar dbSNP
20	g.63406690C>A	CA409636498	KCNQ2	c.2627G>T (p.Gly876Val) c.2573G>T (p.Gly858Val) c.1970G>T (p.Gly657Val) c.2480G>T (p.Gly827Val) c.2141G>T (p.Gly714Val) c.2489G>T (p.Gly830Val) c.2241+356G>T (n.2241+356G>T) c.2205+356G>T (n.2205+356G>T) c.2519G>T (p.Gly840Val) c.2133+356G>T (n.2133+356G>T) c.1680-5847G>T (n.1680-5847G>T) c.2615G>T (p.Gly872Val) c.2681G>T (p.Gly894Val) c.2678G>T (p.Gly893Val) c.2651G>T (p.Gly884Val) c.2597G>T (p.Gly866Val) c.2570G>T (p.Gly857Val) c.2555G>T (p.Gly852Val) c.2162G>T (p.Gly721Val) c.2624G>T (p.Gly875Val) c.2561G>T (p.Gly854Val) c.2558G>T (p.Gly853Val) c.2516G>T (p.Gly839Val) c.1589G>T (p.Gly530Val)
20	g.63406690C>G	CA409636496	KCNQ2	c.2627G>C (p.Gly876Ala) c.2573G>C (p.Gly858Ala) c.1970G>C (p.Gly657Ala) c.2480G>C (p.Gly827Ala) c.2141G>C (p.Gly714Ala) c.2489G>C (p.Gly830Ala) c.2241+356G>C (n.2241+356G>C) c.2205+356G>C (n.2205+356G>C) c.2519G>C (p.Gly840Ala) c.2133+356G>C (n.2133+356G>C) c.1680-5847G>C (n.1680-5847G>C) c.2615G>C (p.Gly872Ala) c.2681G>C (p.Gly894Ala) c.2678G>C (p.Gly893Ala) c.2651G>C (p.Gly884Ala) c.2597G>C (p.Gly866Ala) c.2570G>C (p.Gly857Ala) c.2555G>C (p.Gly852Ala) c.2162G>C (p.Gly721Ala) c.2624G>C (p.Gly875Ala) c.2561G>C (p.Gly854Ala) c.2558G>C (p.Gly853Ala) c.2516G>C (p.Gly839Ala) c.1589G>C (p.Gly530Ala)
20	g.63406690C>T	CA409636494	KCNQ2	c.2627G>A (p.Gly876Asp) c.2573G>A (p.Gly858Asp) c.1970G>A (p.Gly657Asp) c.2480G>A (p.Gly827Asp) c.2141G>A (p.Gly714Asp) c.2489G>A (p.Gly830Asp) c.2241+356G>A (n.2241+356G>A) c.2205+356G>A (n.2205+356G>A) c.2519G>A (p.Gly840Asp) c.2133+356G>A (n.2133+356G>A) c.1680-5847G>A (n.1680-5847G>A) c.2615G>A (p.Gly872Asp) c.2681G>A (p.Gly894Asp) c.2678G>A (p.Gly893Asp) c.2651G>A (p.Gly884Asp) c.2597G>A (p.Gly866Asp) c.2570G>A (p.Gly857Asp) c.2555G>A (p.Gly852Asp) c.2162G>A (p.Gly721Asp) c.2624G>A (p.Gly875Asp) c.2561G>A (p.Gly854Asp) c.2558G>A (p.Gly853Asp) c.2516G>A (p.Gly839Asp) c.1589G>A (p.Gly530Asp)
20	g.63406691C>A	CA409636500	KCNQ2	c.2626G>T (p.Gly876Cys) c.2572G>T (p.Gly858Cys) c.1969G>T (p.Gly657Cys) c.2479G>T (p.Gly827Cys) c.2140G>T (p.Gly714Cys) c.2488G>T (p.Gly830Cys) c.2241+355G>T (n.2241+355G>T) c.2205+355G>T (n.2205+355G>T) c.2518G>T (p.Gly840Cys) c.2133+355G>T (n.2133+355G>T) c.1680-5848G>T (n.1680-5848G>T) c.2614G>T (p.Gly872Cys) c.2680G>T (p.Gly894Cys) c.2677G>T (p.Gly893Cys) c.2650G>T (p.Gly884Cys) c.2596G>T (p.Gly866Cys) c.2569G>T (p.Gly857Cys) c.2554G>T (p.Gly852Cys) c.2161G>T (p.Gly721Cys) c.2623G>T (p.Gly875Cys) c.2560G>T (p.Gly854Cys) c.2557G>T (p.Gly853Cys) c.2515G>T (p.Gly839Cys) c.1588G>T (p.Gly530Cys)
20	g.63406691C=	CA2374774195	KCNQ2	c.2626G= (p.Gly876=) c.2572G= (p.Gly858=) c.1969G= (p.Gly657=) c.2479G= (p.Gly827=) c.2140G= (p.Gly714=) c.2488G= (p.Gly830=) c.2241+355G= (n.2241+355G=) c.2205+355G= (n.2205+355G=) c.2518G= (p.Gly840=) c.2133+355G= (n.2133+355G=) c.1680-5848G= (n.1680-5848G=) c.2614G= (p.Gly872=) c.2680G= (p.Gly894=) c.2677G= (p.Gly893=) c.2650G= (p.Gly884=) c.2596G= (p.Gly866=) c.2569G= (p.Gly857=) c.2554G= (p.Gly852=) c.2161G= (p.Gly721=) c.2623G= (p.Gly875=) c.2560G= (p.Gly854=) c.2557G= (p.Gly853=) c.2515G= (p.Gly839=) c.1588G= (p.Gly530=)
20	g.63406691C>G	CA409636502	KCNQ2	c.2626G>C (p.Gly876Arg) c.2572G>C (p.Gly858Arg) c.1969G>C (p.Gly657Arg) c.2479G>C (p.Gly827Arg) c.2140G>C (p.Gly714Arg) c.2488G>C (p.Gly830Arg) c.2241+355G>C (n.2241+355G>C) c.2205+355G>C (n.2205+355G>C) c.2518G>C (p.Gly840Arg) c.2133+355G>C (n.2133+355G>C) c.1680-5848G>C (n.1680-5848G>C) c.2614G>C (p.Gly872Arg) c.2680G>C (p.Gly894Arg) c.2677G>C (p.Gly893Arg) c.2650G>C (p.Gly884Arg) c.2596G>C (p.Gly866Arg) c.2569G>C (p.Gly857Arg) c.2554G>C (p.Gly852Arg) c.2161G>C (p.Gly721Arg) c.2623G>C (p.Gly875Arg) c.2560G>C (p.Gly854Arg) c.2557G>C (p.Gly853Arg) c.2515G>C (p.Gly839Arg) c.1588G>C (p.Gly530Arg)	ClinVar
20	g.63406691C>T	CA090956	KCNQ2	c.2626G>A (p.Gly876Ser) c.2572G>A (p.Gly858Ser) c.1969G>A (p.Gly657Ser) c.2479G>A (p.Gly827Ser) c.2140G>A (p.Gly714Ser) c.2488G>A (p.Gly830Ser) c.2241+355G>A (n.2241+355G>A) c.2205+355G>A (n.2205+355G>A) c.2518G>A (p.Gly840Ser) c.2133+355G>A (n.2133+355G>A) c.1680-5848G>A (n.1680-5848G>A) c.2614G>A (p.Gly872Ser) c.2680G>A (p.Gly894Ser) c.2677G>A (p.Gly893Ser) c.2650G>A (p.Gly884Ser) c.2596G>A (p.Gly866Ser) c.2569G>A (p.Gly857Ser) c.2554G>A (p.Gly852Ser) c.2161G>A (p.Gly721Ser) c.2623G>A (p.Gly875Ser) c.2560G>A (p.Gly854Ser) c.2557G>A (p.Gly853Ser) c.2515G>A (p.Gly839Ser) c.1588G>A (p.Gly530Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406692G>A	CA315327	KCNQ2	c.2625C>T (p.Thr875=) c.2571C>T (p.Thr857=) c.1968C>T (p.Thr656=) c.2478C>T (p.Thr826=) c.2139C>T (p.Thr713=) c.2487C>T (p.Thr829=) c.2241+354C>T (n.2241+354C>T) c.2205+354C>T (n.2205+354C>T) c.2517C>T (p.Thr839=) c.2133+354C>T (n.2133+354C>T) c.1680-5849C>T (n.1680-5849C>T) c.2613C>T (p.Thr871=) c.2679C>T (p.Thr893=) c.2676C>T (p.Thr892=) c.2649C>T (p.Thr883=) c.2595C>T (p.Thr865=) c.2568C>T (p.Thr856=) c.2553C>T (p.Thr851=) c.2160C>T (p.Thr720=) c.2622C>T (p.Thr874=) c.2559C>T (p.Thr853=) c.2556C>T (p.Thr852=) c.2514C>T (p.Thr838=) c.1587C>T (p.Thr529=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406692G>C	CA511339194	KCNQ2	c.2625C>G (p.Thr875=) c.2571C>G (p.Thr857=) c.1968C>G (p.Thr656=) c.2478C>G (p.Thr826=) c.2139C>G (p.Thr713=) c.2487C>G (p.Thr829=) c.2241+354C>G (n.2241+354C>G) c.2205+354C>G (n.2205+354C>G) c.2517C>G (p.Thr839=) c.2133+354C>G (n.2133+354C>G) c.1680-5849C>G (n.1680-5849C>G) c.2613C>G (p.Thr871=) c.2679C>G (p.Thr893=) c.2676C>G (p.Thr892=) c.2649C>G (p.Thr883=) c.2595C>G (p.Thr865=) c.2568C>G (p.Thr856=) c.2553C>G (p.Thr851=) c.2160C>G (p.Thr720=) c.2622C>G (p.Thr874=) c.2559C>G (p.Thr853=) c.2556C>G (p.Thr852=) c.2514C>G (p.Thr838=) c.1587C>G (p.Thr529=)
20	g.63406692G=	CA2374774196	KCNQ2	c.2625C= (p.Thr875=) c.2571C= (p.Thr857=) c.1968C= (p.Thr656=) c.2478C= (p.Thr826=) c.2139C= (p.Thr713=) c.2487C= (p.Thr829=) c.2241+354C= (n.2241+354C=) c.2205+354C= (n.2205+354C=) c.2517C= (p.Thr839=) c.2133+354C= (n.2133+354C=) c.1680-5849C= (n.1680-5849C=) c.2613C= (p.Thr871=) c.2679C= (p.Thr893=) c.2676C= (p.Thr892=) c.2649C= (p.Thr883=) c.2595C= (p.Thr865=) c.2568C= (p.Thr856=) c.2553C= (p.Thr851=) c.2160C= (p.Thr720=) c.2622C= (p.Thr874=) c.2559C= (p.Thr853=) c.2556C= (p.Thr852=) c.2514C= (p.Thr838=) c.1587C= (p.Thr529=)
20	g.63406692G>T	CA511339195	KCNQ2	c.2625C>A (p.Thr875=) c.2571C>A (p.Thr857=) c.1968C>A (p.Thr656=) c.2478C>A (p.Thr826=) c.2139C>A (p.Thr713=) c.2487C>A (p.Thr829=) c.2241+354C>A (n.2241+354C>A) c.2205+354C>A (n.2205+354C>A) c.2517C>A (p.Thr839=) c.2133+354C>A (n.2133+354C>A) c.1680-5849C>A (n.1680-5849C>A) c.2613C>A (p.Thr871=) c.2679C>A (p.Thr893=) c.2676C>A (p.Thr892=) c.2649C>A (p.Thr883=) c.2595C>A (p.Thr865=) c.2568C>A (p.Thr856=) c.2553C>A (p.Thr851=) c.2160C>A (p.Thr720=) c.2622C>A (p.Thr874=) c.2559C>A (p.Thr853=) c.2556C>A (p.Thr852=) c.2514C>A (p.Thr838=) c.1587C>A (p.Thr529=)	gnomAD v4
20	g.63406693G>A	CA9958056	KCNQ2	c.2624C>T (p.Thr875Ile) c.2570C>T (p.Thr857Ile) c.1967C>T (p.Thr656Ile) c.2477C>T (p.Thr826Ile) c.2138C>T (p.Thr713Ile) c.2486C>T (p.Thr829Ile) c.2241+353C>T (n.2241+353C>T) c.2205+353C>T (n.2205+353C>T) c.2516C>T (p.Thr839Ile) c.2133+353C>T (n.2133+353C>T) c.1680-5850C>T (n.1680-5850C>T) c.2612C>T (p.Thr871Ile) c.2678C>T (p.Thr893Ile) c.2675C>T (p.Thr892Ile) c.2648C>T (p.Thr883Ile) c.2594C>T (p.Thr865Ile) c.2567C>T (p.Thr856Ile) c.2552C>T (p.Thr851Ile) c.2159C>T (p.Thr720Ile) c.2621C>T (p.Thr874Ile) c.2558C>T (p.Thr853Ile) c.2555C>T (p.Thr852Ile) c.2513C>T (p.Thr838Ile) c.1586C>T (p.Thr529Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63406693G>C	CA409636508	KCNQ2	c.2624C>G (p.Thr875Ser) c.2570C>G (p.Thr857Ser) c.1967C>G (p.Thr656Ser) c.2477C>G (p.Thr826Ser) c.2138C>G (p.Thr713Ser) c.2486C>G (p.Thr829Ser) c.2241+353C>G (n.2241+353C>G) c.2205+353C>G (n.2205+353C>G) c.2516C>G (p.Thr839Ser) c.2133+353C>G (n.2133+353C>G) c.1680-5850C>G (n.1680-5850C>G) c.2612C>G (p.Thr871Ser) c.2678C>G (p.Thr893Ser) c.2675C>G (p.Thr892Ser) c.2648C>G (p.Thr883Ser) c.2594C>G (p.Thr865Ser) c.2567C>G (p.Thr856Ser) c.2552C>G (p.Thr851Ser) c.2159C>G (p.Thr720Ser) c.2621C>G (p.Thr874Ser) c.2558C>G (p.Thr853Ser) c.2555C>G (p.Thr852Ser) c.2513C>G (p.Thr838Ser) c.1586C>G (p.Thr529Ser)
20	g.63406693G=	CA2374774197	KCNQ2	c.2624C= (p.Thr875=) c.2570C= (p.Thr857=) c.1967C= (p.Thr656=) c.2477C= (p.Thr826=) c.2138C= (p.Thr713=) c.2486C= (p.Thr829=) c.2241+353C= (n.2241+353C=) c.2205+353C= (n.2205+353C=) c.2516C= (p.Thr839=) c.2133+353C= (n.2133+353C=) c.1680-5850C= (n.1680-5850C=) c.2612C= (p.Thr871=) c.2678C= (p.Thr893=) c.2675C= (p.Thr892=) c.2648C= (p.Thr883=) c.2594C= (p.Thr865=) c.2567C= (p.Thr856=) c.2552C= (p.Thr851=) c.2159C= (p.Thr720=) c.2621C= (p.Thr874=) c.2558C= (p.Thr853=) c.2555C= (p.Thr852=) c.2513C= (p.Thr838=) c.1586C= (p.Thr529=)
20	g.63406693G>T	CA409636511	KCNQ2	c.2624C>A (p.Thr875Asn) c.2570C>A (p.Thr857Asn) c.1967C>A (p.Thr656Asn) c.2477C>A (p.Thr826Asn) c.2138C>A (p.Thr713Asn) c.2486C>A (p.Thr829Asn) c.2241+353C>A (n.2241+353C>A) c.2205+353C>A (n.2205+353C>A) c.2516C>A (p.Thr839Asn) c.2133+353C>A (n.2133+353C>A) c.1680-5850C>A (n.1680-5850C>A) c.2612C>A (p.Thr871Asn) c.2678C>A (p.Thr893Asn) c.2675C>A (p.Thr892Asn) c.2648C>A (p.Thr883Asn) c.2594C>A (p.Thr865Asn) c.2567C>A (p.Thr856Asn) c.2552C>A (p.Thr851Asn) c.2159C>A (p.Thr720Asn) c.2621C>A (p.Thr874Asn) c.2558C>A (p.Thr853Asn) c.2555C>A (p.Thr852Asn) c.2513C>A (p.Thr838Asn) c.1586C>A (p.Thr529Asn)	gnomAD v4
20	g.63406694_63406699dup	CA2577453407	KCNQ2	c.2619_2624dup (p.Thr875_Gly876insAlaThr) c.2565_2570dup (p.Thr857_Gly858insAlaThr) c.1962_1967dup (p.Thr656_Gly657insAlaThr) c.2472_2477dup (p.Thr826_Gly827insAlaThr) c.2133_2138dup (p.Thr713_Gly714insAlaThr) c.2481_2486dup (p.Thr829_Gly830insAlaThr) c.2241+348_2241+353dup (n.2241+348_2241+353dup) c.2205+348_2205+353dup (n.2205+348_2205+353dup) c.2511_2516dup (p.Thr839_Gly840insAlaThr) c.2133+348_2133+353dup (n.2133+348_2133+353dup) c.1680-5855_1680-5850dup (n.1680-5855_1680-5850dup) c.2607_2612dup (p.Thr871_Gly872insAlaThr) c.2673_2678dup (p.Thr893_Gly894insAlaThr) c.2670_2675dup (p.Thr892_Gly893insAlaThr) c.2643_2648dup (p.Thr883_Gly884insAlaThr) c.2589_2594dup (p.Thr865_Gly866insAlaThr) c.2562_2567dup (p.Thr856_Gly857insAlaThr) c.2547_2552dup (p.Thr851_Gly852insAlaThr) c.2154_2159dup (p.Thr720_Gly721insAlaThr) c.2616_2621dup (p.Thr874_Gly875insAlaThr) c.2553_2558dup (p.Thr853_Gly854insAlaThr) c.2550_2555dup (p.Thr852_Gly853insAlaThr) c.2508_2513dup (p.Thr838_Gly839insAlaThr) c.1581_1586dup (p.Thr529_Gly530insAlaThr)
20	g.63406694T>A	CA409636513	KCNQ2	c.2623A>T (p.Thr875Ser) c.2569A>T (p.Thr857Ser) c.1966A>T (p.Thr656Ser) c.2476A>T (p.Thr826Ser) c.2137A>T (p.Thr713Ser) c.2485A>T (p.Thr829Ser) c.2241+352A>T (n.2241+352A>T) c.2205+352A>T (n.2205+352A>T) c.2515A>T (p.Thr839Ser) c.2133+352A>T (n.2133+352A>T) c.1680-5851A>T (n.1680-5851A>T) c.2611A>T (p.Thr871Ser) c.2677A>T (p.Thr893Ser) c.2674A>T (p.Thr892Ser) c.2647A>T (p.Thr883Ser) c.2593A>T (p.Thr865Ser) c.2566A>T (p.Thr856Ser) c.2551A>T (p.Thr851Ser) c.2158A>T (p.Thr720Ser) c.2620A>T (p.Thr874Ser) c.2557A>T (p.Thr853Ser) c.2554A>T (p.Thr852Ser) c.2512A>T (p.Thr838Ser) c.1585A>T (p.Thr529Ser)
20	g.63406694T>C	CA409636515	KCNQ2	c.2623A>G (p.Thr875Ala) c.2569A>G (p.Thr857Ala) c.1966A>G (p.Thr656Ala) c.2476A>G (p.Thr826Ala) c.2137A>G (p.Thr713Ala) c.2485A>G (p.Thr829Ala) c.2241+352A>G (n.2241+352A>G) c.2205+352A>G (n.2205+352A>G) c.2515A>G (p.Thr839Ala) c.2133+352A>G (n.2133+352A>G) c.1680-5851A>G (n.1680-5851A>G) c.2611A>G (p.Thr871Ala) c.2677A>G (p.Thr893Ala) c.2674A>G (p.Thr892Ala) c.2647A>G (p.Thr883Ala) c.2593A>G (p.Thr865Ala) c.2566A>G (p.Thr856Ala) c.2551A>G (p.Thr851Ala) c.2158A>G (p.Thr720Ala) c.2620A>G (p.Thr874Ala) c.2557A>G (p.Thr853Ala) c.2554A>G (p.Thr852Ala) c.2512A>G (p.Thr838Ala) c.1585A>G (p.Thr529Ala)	dbSNP gnomAD v3 gnomAD v4
20	g.63406694T>G	CA409636516	KCNQ2	c.2623A>C (p.Thr875Pro) c.2569A>C (p.Thr857Pro) c.1966A>C (p.Thr656Pro) c.2476A>C (p.Thr826Pro) c.2137A>C (p.Thr713Pro) c.2485A>C (p.Thr829Pro) c.2241+352A>C (n.2241+352A>C) c.2205+352A>C (n.2205+352A>C) c.2515A>C (p.Thr839Pro) c.2133+352A>C (n.2133+352A>C) c.1680-5851A>C (n.1680-5851A>C) c.2611A>C (p.Thr871Pro) c.2677A>C (p.Thr893Pro) c.2674A>C (p.Thr892Pro) c.2647A>C (p.Thr883Pro) c.2593A>C (p.Thr865Pro) c.2566A>C (p.Thr856Pro) c.2551A>C (p.Thr851Pro) c.2158A>C (p.Thr720Pro) c.2620A>C (p.Thr874Pro) c.2557A>C (p.Thr853Pro) c.2554A>C (p.Thr852Pro) c.2512A>C (p.Thr838Pro) c.1585A>C (p.Thr529Pro)	gnomAD v4
20	g.63406694T=	CA2374774198	KCNQ2	c.2623A= (p.Thr875=) c.2569A= (p.Thr857=) c.1966A= (p.Thr656=) c.2476A= (p.Thr826=) c.2137A= (p.Thr713=) c.2485A= (p.Thr829=) c.2241+352A= (n.2241+352A=) c.2205+352A= (n.2205+352A=) c.2515A= (p.Thr839=) c.2133+352A= (n.2133+352A=) c.1680-5851A= (n.1680-5851A=) c.2611A= (p.Thr871=) c.2677A= (p.Thr893=) c.2674A= (p.Thr892=) c.2647A= (p.Thr883=) c.2593A= (p.Thr865=) c.2566A= (p.Thr856=) c.2551A= (p.Thr851=) c.2158A= (p.Thr720=) c.2620A= (p.Thr874=) c.2557A= (p.Thr853=) c.2554A= (p.Thr852=) c.2512A= (p.Thr838=) c.1585A= (p.Thr529=)
20	g.63406695G>A	CA511339196	KCNQ2	c.2622C>T (p.Ala874=) c.2568C>T (p.Ala856=) c.1965C>T (p.Ala655=) c.2475C>T (p.Ala825=) c.2136C>T (p.Ala712=) c.2484C>T (p.Ala828=) c.2241+351C>T (n.2241+351C>T) c.2205+351C>T (n.2205+351C>T) c.2514C>T (p.Ala838=) c.2133+351C>T (n.2133+351C>T) c.1680-5852C>T (n.1680-5852C>T) c.2610C>T (p.Ala870=) c.2676C>T (p.Ala892=) c.2673C>T (p.Ala891=) c.2646C>T (p.Ala882=) c.2592C>T (p.Ala864=) c.2565C>T (p.Ala855=) c.2550C>T (p.Ala850=) c.2157C>T (p.Ala719=) c.2619C>T (p.Ala873=) c.2556C>T (p.Ala852=) c.2553C>T (p.Ala851=) c.2511C>T (p.Ala837=) c.1584C>T (p.Ala528=)	gnomAD v4
20	g.63406695G>C	CA511339197	KCNQ2	c.2622C>G (p.Ala874=) c.2568C>G (p.Ala856=) c.1965C>G (p.Ala655=) c.2475C>G (p.Ala825=) c.2136C>G (p.Ala712=) c.2484C>G (p.Ala828=) c.2241+351C>G (n.2241+351C>G) c.2205+351C>G (n.2205+351C>G) c.2514C>G (p.Ala838=) c.2133+351C>G (n.2133+351C>G) c.1680-5852C>G (n.1680-5852C>G) c.2610C>G (p.Ala870=) c.2676C>G (p.Ala892=) c.2673C>G (p.Ala891=) c.2646C>G (p.Ala882=) c.2592C>G (p.Ala864=) c.2565C>G (p.Ala855=) c.2550C>G (p.Ala850=) c.2157C>G (p.Ala719=) c.2619C>G (p.Ala873=) c.2556C>G (p.Ala852=) c.2553C>G (p.Ala851=) c.2511C>G (p.Ala837=) c.1584C>G (p.Ala528=)
20	g.63406695G>T	CA511339198	KCNQ2	c.2622C>A (p.Ala874=) c.2568C>A (p.Ala856=) c.1965C>A (p.Ala655=) c.2475C>A (p.Ala825=) c.2136C>A (p.Ala712=) c.2484C>A (p.Ala828=) c.2241+351C>A (n.2241+351C>A) c.2205+351C>A (n.2205+351C>A) c.2514C>A (p.Ala838=) c.2133+351C>A (n.2133+351C>A) c.1680-5852C>A (n.1680-5852C>A) c.2610C>A (p.Ala870=) c.2676C>A (p.Ala892=) c.2673C>A (p.Ala891=) c.2646C>A (p.Ala882=) c.2592C>A (p.Ala864=) c.2565C>A (p.Ala855=) c.2550C>A (p.Ala850=) c.2157C>A (p.Ala719=) c.2619C>A (p.Ala873=) c.2556C>A (p.Ala852=) c.2553C>A (p.Ala851=) c.2511C>A (p.Ala837=) c.1584C>A (p.Ala528=)
20	g.63406696G>A	CA409636519	KCNQ2	c.2621C>T (p.Ala874Val) c.2567C>T (p.Ala856Val) c.1964C>T (p.Ala655Val) c.2474C>T (p.Ala825Val) c.2135C>T (p.Ala712Val) c.2483C>T (p.Ala828Val) c.2241+350C>T (n.2241+350C>T) c.2205+350C>T (n.2205+350C>T) c.2513C>T (p.Ala838Val) c.2133+350C>T (n.2133+350C>T) c.1680-5853C>T (n.1680-5853C>T) c.2609C>T (p.Ala870Val) c.2675C>T (p.Ala892Val) c.2672C>T (p.Ala891Val) c.2645C>T (p.Ala882Val) c.2591C>T (p.Ala864Val) c.2564C>T (p.Ala855Val) c.2549C>T (p.Ala850Val) c.2156C>T (p.Ala719Val) c.2618C>T (p.Ala873Val) c.2555C>T (p.Ala852Val) c.2552C>T (p.Ala851Val) c.2510C>T (p.Ala837Val) c.1583C>T (p.Ala528Val)	dbSNP gnomAD v2 gnomAD v4
20	g.63406696G>C	CA409636521	KCNQ2	c.2621C>G (p.Ala874Gly) c.2567C>G (p.Ala856Gly) c.1964C>G (p.Ala655Gly) c.2474C>G (p.Ala825Gly) c.2135C>G (p.Ala712Gly) c.2483C>G (p.Ala828Gly) c.2241+350C>G (n.2241+350C>G) c.2205+350C>G (n.2205+350C>G) c.2513C>G (p.Ala838Gly) c.2133+350C>G (n.2133+350C>G) c.1680-5853C>G (n.1680-5853C>G) c.2609C>G (p.Ala870Gly) c.2675C>G (p.Ala892Gly) c.2672C>G (p.Ala891Gly) c.2645C>G (p.Ala882Gly) c.2591C>G (p.Ala864Gly) c.2564C>G (p.Ala855Gly) c.2549C>G (p.Ala850Gly) c.2156C>G (p.Ala719Gly) c.2618C>G (p.Ala873Gly) c.2555C>G (p.Ala852Gly) c.2552C>G (p.Ala851Gly) c.2510C>G (p.Ala837Gly) c.1583C>G (p.Ala528Gly)	gnomAD v4
20	g.63406696G=	CA2374774199	KCNQ2	c.2621C= (p.Ala874=) c.2567C= (p.Ala856=) c.1964C= (p.Ala655=) c.2474C= (p.Ala825=) c.2135C= (p.Ala712=) c.2483C= (p.Ala828=) c.2241+350C= (n.2241+350C=) c.2205+350C= (n.2205+350C=) c.2513C= (p.Ala838=) c.2133+350C= (n.2133+350C=) c.1680-5853C= (n.1680-5853C=) c.2609C= (p.Ala870=) c.2675C= (p.Ala892=) c.2672C= (p.Ala891=) c.2645C= (p.Ala882=) c.2591C= (p.Ala864=) c.2564C= (p.Ala855=) c.2549C= (p.Ala850=) c.2156C= (p.Ala719=) c.2618C= (p.Ala873=) c.2555C= (p.Ala852=) c.2552C= (p.Ala851=) c.2510C= (p.Ala837=) c.1583C= (p.Ala528=)
20	g.63406696G>T	CA409636523	KCNQ2	c.2621C>A (p.Ala874Asp) c.2567C>A (p.Ala856Asp) c.1964C>A (p.Ala655Asp) c.2474C>A (p.Ala825Asp) c.2135C>A (p.Ala712Asp) c.2483C>A (p.Ala828Asp) c.2241+350C>A (n.2241+350C>A) c.2205+350C>A (n.2205+350C>A) c.2513C>A (p.Ala838Asp) c.2133+350C>A (n.2133+350C>A) c.1680-5853C>A (n.1680-5853C>A) c.2609C>A (p.Ala870Asp) c.2675C>A (p.Ala892Asp) c.2672C>A (p.Ala891Asp) c.2645C>A (p.Ala882Asp) c.2591C>A (p.Ala864Asp) c.2564C>A (p.Ala855Asp) c.2549C>A (p.Ala850Asp) c.2156C>A (p.Ala719Asp) c.2618C>A (p.Ala873Asp) c.2555C>A (p.Ala852Asp) c.2552C>A (p.Ala851Asp) c.2510C>A (p.Ala837Asp) c.1583C>A (p.Ala528Asp)	gnomAD v4
20	g.63406697C>A	CA409636526	KCNQ2	c.2620G>T (p.Ala874Ser) c.2566G>T (p.Ala856Ser) c.1963G>T (p.Ala655Ser) c.2473G>T (p.Ala825Ser) c.2134G>T (p.Ala712Ser) c.2482G>T (p.Ala828Ser) c.2241+349G>T (n.2241+349G>T) c.2205+349G>T (n.2205+349G>T) c.2512G>T (p.Ala838Ser) c.2133+349G>T (n.2133+349G>T) c.1680-5854G>T (n.1680-5854G>T) c.2608G>T (p.Ala870Ser) c.2674G>T (p.Ala892Ser) c.2671G>T (p.Ala891Ser) c.2644G>T (p.Ala882Ser) c.2590G>T (p.Ala864Ser) c.2563G>T (p.Ala855Ser) c.2548G>T (p.Ala850Ser) c.2155G>T (p.Ala719Ser) c.2617G>T (p.Ala873Ser) c.2554G>T (p.Ala852Ser) c.2551G>T (p.Ala851Ser) c.2509G>T (p.Ala837Ser) c.1582G>T (p.Ala528Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.63406697C=	CA2374774200	KCNQ2	c.2620G= (p.Ala874=) c.2566G= (p.Ala856=) c.1963G= (p.Ala655=) c.2473G= (p.Ala825=) c.2134G= (p.Ala712=) c.2482G= (p.Ala828=) c.2241+349G= (n.2241+349G=) c.2205+349G= (n.2205+349G=) c.2512G= (p.Ala838=) c.2133+349G= (n.2133+349G=) c.1680-5854G= (n.1680-5854G=) c.2608G= (p.Ala870=) c.2674G= (p.Ala892=) c.2671G= (p.Ala891=) c.2644G= (p.Ala882=) c.2590G= (p.Ala864=) c.2563G= (p.Ala855=) c.2548G= (p.Ala850=) c.2155G= (p.Ala719=) c.2617G= (p.Ala873=) c.2554G= (p.Ala852=) c.2551G= (p.Ala851=) c.2509G= (p.Ala837=) c.1582G= (p.Ala528=)
20	g.63406697C>G	CA409636527	KCNQ2	c.2620G>C (p.Ala874Pro) c.2566G>C (p.Ala856Pro) c.1963G>C (p.Ala655Pro) c.2473G>C (p.Ala825Pro) c.2134G>C (p.Ala712Pro) c.2482G>C (p.Ala828Pro) c.2241+349G>C (n.2241+349G>C) c.2205+349G>C (n.2205+349G>C) c.2512G>C (p.Ala838Pro) c.2133+349G>C (n.2133+349G>C) c.1680-5854G>C (n.1680-5854G>C) c.2608G>C (p.Ala870Pro) c.2674G>C (p.Ala892Pro) c.2671G>C (p.Ala891Pro) c.2644G>C (p.Ala882Pro) c.2590G>C (p.Ala864Pro) c.2563G>C (p.Ala855Pro) c.2548G>C (p.Ala850Pro) c.2155G>C (p.Ala719Pro) c.2617G>C (p.Ala873Pro) c.2554G>C (p.Ala852Pro) c.2551G>C (p.Ala851Pro) c.2509G>C (p.Ala837Pro) c.1582G>C (p.Ala528Pro)	ClinVar
20	g.63406697C>T	CA409636525	KCNQ2	c.2620G>A (p.Ala874Thr) c.2566G>A (p.Ala856Thr) c.1963G>A (p.Ala655Thr) c.2473G>A (p.Ala825Thr) c.2134G>A (p.Ala712Thr) c.2482G>A (p.Ala828Thr) c.2241+349G>A (n.2241+349G>A) c.2205+349G>A (n.2205+349G>A) c.2512G>A (p.Ala838Thr) c.2133+349G>A (n.2133+349G>A) c.1680-5854G>A (n.1680-5854G>A) c.2608G>A (p.Ala870Thr) c.2674G>A (p.Ala892Thr) c.2671G>A (p.Ala891Thr) c.2644G>A (p.Ala882Thr) c.2590G>A (p.Ala864Thr) c.2563G>A (p.Ala855Thr) c.2548G>A (p.Ala850Thr) c.2155G>A (p.Ala719Thr) c.2617G>A (p.Ala873Thr) c.2554G>A (p.Ala852Thr) c.2551G>A (p.Ala851Thr) c.2509G>A (p.Ala837Thr) c.1582G>A (p.Ala528Thr)	gnomAD v4
20	g.63406697_63406727delinsCCGAGCGTGGCGGGGGCCCGCACGGGGTACA	CA2374774201	KCNQ2	c.2590_2620delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys864=) c.2536_2566delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys846=) c.1933_1963delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys645=) c.2443_2473delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys815=) c.2104_2134delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys702=) c.2452_2482delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys818=) c.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.2482_2512delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys828=) c.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.2578_2608delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys860=) c.2644_2674delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys882=) c.2641_2671delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys881=) c.2614_2644delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys872=) c.2560_2590delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys854=) c.2533_2563delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys845=) c.2518_2548delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys840=) c.2125_2155delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys709=) c.2587_2617delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys863=) c.2524_2554delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys842=) c.2521_2551delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys841=) c.2479_2509delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys827=) c.1552_1582delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys518=)
20	g.63406698C>A	CA511339199	KCNQ2	c.2619G>T (p.Ser873=) c.2565G>T (p.Ser855=) c.1962G>T (p.Ser654=) c.2472G>T (p.Ser824=) c.2133G>T (p.Ser711=) c.2481G>T (p.Ser827=) c.2241+348G>T (n.2241+348G>T) c.2205+348G>T (n.2205+348G>T) c.2511G>T (p.Ser837=) c.2133+348G>T (n.2133+348G>T) c.1680-5855G>T (n.1680-5855G>T) c.2607G>T (p.Ser869=) c.2673G>T (p.Ser891=) c.2670G>T (p.Ser890=) c.2643G>T (p.Ser881=) c.2589G>T (p.Ser863=) c.2562G>T (p.Ser854=) c.2547G>T (p.Ser849=) c.2154G>T (p.Ser718=) c.2616G>T (p.Ser872=) c.2553G>T (p.Ser851=) c.2550G>T (p.Ser850=) c.2508G>T (p.Ser836=) c.1581G>T (p.Ser527=)	gnomAD v4
20	g.63406698C=	CA2374774203	KCNQ2	c.2619G= (p.Ser873=) c.2565G= (p.Ser855=) c.1962G= (p.Ser654=) c.2472G= (p.Ser824=) c.2133G= (p.Ser711=) c.2481G= (p.Ser827=) c.2241+348G= (n.2241+348G=) c.2205+348G= (n.2205+348G=) c.2511G= (p.Ser837=) c.2133+348G= (n.2133+348G=) c.1680-5855G= (n.1680-5855G=) c.2607G= (p.Ser869=) c.2673G= (p.Ser891=) c.2670G= (p.Ser890=) c.2643G= (p.Ser881=) c.2589G= (p.Ser863=) c.2562G= (p.Ser854=) c.2547G= (p.Ser849=) c.2154G= (p.Ser718=) c.2616G= (p.Ser872=) c.2553G= (p.Ser851=) c.2550G= (p.Ser850=) c.2508G= (p.Ser836=) c.1581G= (p.Ser527=)
20	g.63406698C>G	CA511339200	KCNQ2	c.2619G>C (p.Ser873=) c.2565G>C (p.Ser855=) c.1962G>C (p.Ser654=) c.2472G>C (p.Ser824=) c.2133G>C (p.Ser711=) c.2481G>C (p.Ser827=) c.2241+348G>C (n.2241+348G>C) c.2205+348G>C (n.2205+348G>C) c.2511G>C (p.Ser837=) c.2133+348G>C (n.2133+348G>C) c.1680-5855G>C (n.1680-5855G>C) c.2607G>C (p.Ser869=) c.2673G>C (p.Ser891=) c.2670G>C (p.Ser890=) c.2643G>C (p.Ser881=) c.2589G>C (p.Ser863=) c.2562G>C (p.Ser854=) c.2547G>C (p.Ser849=) c.2154G>C (p.Ser718=) c.2616G>C (p.Ser872=) c.2553G>C (p.Ser851=) c.2550G>C (p.Ser850=) c.2508G>C (p.Ser836=) c.1581G>C (p.Ser527=)	gnomAD v4
20	g.63406698C>T	CA317421559	KCNQ2	c.2619G>A (p.Ser873=) c.2565G>A (p.Ser855=) c.1962G>A (p.Ser654=) c.2472G>A (p.Ser824=) c.2133G>A (p.Ser711=) c.2481G>A (p.Ser827=) c.2241+348G>A (n.2241+348G>A) c.2205+348G>A (n.2205+348G>A) c.2511G>A (p.Ser837=) c.2133+348G>A (n.2133+348G>A) c.1680-5855G>A (n.1680-5855G>A) c.2607G>A (p.Ser869=) c.2673G>A (p.Ser891=) c.2670G>A (p.Ser890=) c.2643G>A (p.Ser881=) c.2589G>A (p.Ser863=) c.2562G>A (p.Ser854=) c.2547G>A (p.Ser849=) c.2154G>A (p.Ser718=) c.2616G>A (p.Ser872=) c.2553G>A (p.Ser851=) c.2550G>A (p.Ser850=) c.2508G>A (p.Ser836=) c.1581G>A (p.Ser527=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406698_63406727del	CA2374774202	KCNQ2	c.2590_2619del (p.Cys864_Ser873del) c.2536_2565del (p.Cys846_Ser855del) c.1933_1962del (p.Cys645_Ser654del) c.2443_2472del (p.Cys815_Ser824del) c.2104_2133del (p.Cys702_Ser711del) c.2452_2481del (p.Cys818_Ser827del) c.2241+319_2241+348del (n.2241+319_2241+348del) c.2205+319_2205+348del (n.2205+319_2205+348del) c.2482_2511del (p.Cys828_Ser837del) c.2133+319_2133+348del (n.2133+319_2133+348del) c.1680-5884_1680-5855del (n.1680-5884_1680-5855del) c.2578_2607del (p.Cys860_Ser869del) c.2644_2673del (p.Cys882_Ser891del) c.2641_2670del (p.Cys881_Ser890del) c.2614_2643del (p.Cys872_Ser881del) c.2560_2589del (p.Cys854_Ser863del) c.2533_2562del (p.Cys845_Ser854del) c.2518_2547del (p.Cys840_Ser849del) c.2125_2154del (p.Cys709_Ser718del) c.2587_2616del (p.Cys863_Ser872del) c.2524_2553del (p.Cys842_Ser851del) c.2521_2550del (p.Cys841_Ser850del) c.2479_2508del (p.Cys827_Ser836del) c.1552_1581del (p.Cys518_Ser527del)	ClinVar dbSNP
20	g.63406699G>A	CA342492	KCNQ2	c.2618C>T (p.Ser873Leu) c.2564C>T (p.Ser855Leu) c.1961C>T (p.Ser654Leu) c.2471C>T (p.Ser824Leu) c.2132C>T (p.Ser711Leu) c.2480C>T (p.Ser827Leu) c.2241+347C>T (n.2241+347C>T) c.2205+347C>T (n.2205+347C>T) c.2510C>T (p.Ser837Leu) c.2133+347C>T (n.2133+347C>T) c.1680-5856C>T (n.1680-5856C>T) c.2606C>T (p.Ser869Leu) c.2672C>T (p.Ser891Leu) c.2669C>T (p.Ser890Leu) c.2642C>T (p.Ser881Leu) c.2588C>T (p.Ser863Leu) c.2561C>T (p.Ser854Leu) c.2546C>T (p.Ser849Leu) c.2153C>T (p.Ser718Leu) c.2615C>T (p.Ser872Leu) c.2552C>T (p.Ser851Leu) c.2549C>T (p.Ser850Leu) c.2507C>T (p.Ser836Leu) c.1580C>T (p.Ser527Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406699G>C	CA409636529	KCNQ2	c.2618C>G (p.Ser873Trp) c.2564C>G (p.Ser855Trp) c.1961C>G (p.Ser654Trp) c.2471C>G (p.Ser824Trp) c.2132C>G (p.Ser711Trp) c.2480C>G (p.Ser827Trp) c.2241+347C>G (n.2241+347C>G) c.2205+347C>G (n.2205+347C>G) c.2510C>G (p.Ser837Trp) c.2133+347C>G (n.2133+347C>G) c.1680-5856C>G (n.1680-5856C>G) c.2606C>G (p.Ser869Trp) c.2672C>G (p.Ser891Trp) c.2669C>G (p.Ser890Trp) c.2642C>G (p.Ser881Trp) c.2588C>G (p.Ser863Trp) c.2561C>G (p.Ser854Trp) c.2546C>G (p.Ser849Trp) c.2153C>G (p.Ser718Trp) c.2615C>G (p.Ser872Trp) c.2552C>G (p.Ser851Trp) c.2549C>G (p.Ser850Trp) c.2507C>G (p.Ser836Trp) c.1580C>G (p.Ser527Trp)
20	g.63406699G=	CA2374774204	KCNQ2	c.2618C= (p.Ser873=) c.2564C= (p.Ser855=) c.1961C= (p.Ser654=) c.2471C= (p.Ser824=) c.2132C= (p.Ser711=) c.2480C= (p.Ser827=) c.2241+347C= (n.2241+347C=) c.2205+347C= (n.2205+347C=) c.2510C= (p.Ser837=) c.2133+347C= (n.2133+347C=) c.1680-5856C= (n.1680-5856C=) c.2606C= (p.Ser869=) c.2672C= (p.Ser891=) c.2669C= (p.Ser890=) c.2642C= (p.Ser881=) c.2588C= (p.Ser863=) c.2561C= (p.Ser854=) c.2546C= (p.Ser849=) c.2153C= (p.Ser718=) c.2615C= (p.Ser872=) c.2552C= (p.Ser851=) c.2549C= (p.Ser850=) c.2507C= (p.Ser836=) c.1580C= (p.Ser527=)
20	g.63406699G>T	CA409636531	KCNQ2	c.2618C>A (p.Ser873Ter) c.2564C>A (p.Ser855Ter) c.1961C>A (p.Ser654Ter) c.2471C>A (p.Ser824Ter) c.2132C>A (p.Ser711Ter) c.2480C>A (p.Ser827Ter) c.2241+347C>A (n.2241+347C>A) c.2205+347C>A (n.2205+347C>A) c.2510C>A (p.Ser837Ter) c.2133+347C>A (n.2133+347C>A) c.1680-5856C>A (n.1680-5856C>A) c.2606C>A (p.Ser869Ter) c.2672C>A (p.Ser891Ter) c.2669C>A (p.Ser890Ter) c.2642C>A (p.Ser881Ter) c.2588C>A (p.Ser863Ter) c.2561C>A (p.Ser854Ter) c.2546C>A (p.Ser849Ter) c.2153C>A (p.Ser718Ter) c.2615C>A (p.Ser872Ter) c.2552C>A (p.Ser851Ter) c.2549C>A (p.Ser850Ter) c.2507C>A (p.Ser836Ter) c.1580C>A (p.Ser527Ter)	gnomAD v4
20	g.63406700A>C	CA409636534	KCNQ2	c.2617T>G (p.Ser873Ala) c.2563T>G (p.Ser855Ala) c.1960T>G (p.Ser654Ala) c.2470T>G (p.Ser824Ala) c.2131T>G (p.Ser711Ala) c.2479T>G (p.Ser827Ala) c.2241+346T>G (n.2241+346T>G) c.2205+346T>G (n.2205+346T>G) c.2509T>G (p.Ser837Ala) c.2133+346T>G (n.2133+346T>G) c.1680-5857T>G (n.1680-5857T>G) c.2605T>G (p.Ser869Ala) c.2671T>G (p.Ser891Ala) c.2668T>G (p.Ser890Ala) c.2641T>G (p.Ser881Ala) c.2587T>G (p.Ser863Ala) c.2560T>G (p.Ser854Ala) c.2545T>G (p.Ser849Ala) c.2152T>G (p.Ser718Ala) c.2614T>G (p.Ser872Ala) c.2551T>G (p.Ser851Ala) c.2548T>G (p.Ser850Ala) c.2506T>G (p.Ser836Ala) c.1579T>G (p.Ser527Ala)
20	g.63406700A>G	CA409636538	KCNQ2	c.2617T>C (p.Ser873Pro) c.2563T>C (p.Ser855Pro) c.1960T>C (p.Ser654Pro) c.2470T>C (p.Ser824Pro) c.2131T>C (p.Ser711Pro) c.2479T>C (p.Ser827Pro) c.2241+346T>C (n.2241+346T>C) c.2205+346T>C (n.2205+346T>C) c.2509T>C (p.Ser837Pro) c.2133+346T>C (n.2133+346T>C) c.1680-5857T>C (n.1680-5857T>C) c.2605T>C (p.Ser869Pro) c.2671T>C (p.Ser891Pro) c.2668T>C (p.Ser890Pro) c.2641T>C (p.Ser881Pro) c.2587T>C (p.Ser863Pro) c.2560T>C (p.Ser854Pro) c.2545T>C (p.Ser849Pro) c.2152T>C (p.Ser718Pro) c.2614T>C (p.Ser872Pro) c.2551T>C (p.Ser851Pro) c.2548T>C (p.Ser850Pro) c.2506T>C (p.Ser836Pro) c.1579T>C (p.Ser527Pro)
20	g.63406700A>T	CA409636536	KCNQ2	c.2617T>A (p.Ser873Thr) c.2563T>A (p.Ser855Thr) c.1960T>A (p.Ser654Thr) c.2470T>A (p.Ser824Thr) c.2131T>A (p.Ser711Thr) c.2479T>A (p.Ser827Thr) c.2241+346T>A (n.2241+346T>A) c.2205+346T>A (n.2205+346T>A) c.2509T>A (p.Ser837Thr) c.2133+346T>A (n.2133+346T>A) c.1680-5857T>A (n.1680-5857T>A) c.2605T>A (p.Ser869Thr) c.2671T>A (p.Ser891Thr) c.2668T>A (p.Ser890Thr) c.2641T>A (p.Ser881Thr) c.2587T>A (p.Ser863Thr) c.2560T>A (p.Ser854Thr) c.2545T>A (p.Ser849Thr) c.2152T>A (p.Ser718Thr) c.2614T>A (p.Ser872Thr) c.2551T>A (p.Ser851Thr) c.2548T>A (p.Ser850Thr) c.2506T>A (p.Ser836Thr) c.1579T>A (p.Ser527Thr)
20	g.63406701_63406702insGCAG	CA2520686347	KCNQ2	c.2617_2618insGCCT (p.Ser873CysfsTer11) c.2563_2564insGCCT (p.Ser855CysfsTer11) c.1960_1961insGCCT (p.Ser654CysfsTer11) c.2470_2471insGCCT (p.Ser824CysfsTer11) c.2131_2132insGCCT (p.Ser711CysfsTer11) c.2479_2480insGCCT (p.Ser827CysfsTer11) c.2241+346_2241+347insGCCT (n.2241+346_2241+347insGCCT) c.2205+346_2205+347insGCCT (n.2205+346_2205+347insGCCT) c.2509_2510insGCCT (p.Ser837CysfsTer11) c.2133+346_2133+347insGCCT (n.2133+346_2133+347insGCCT) c.1680-5857_1680-5856insGCCT (n.1680-5857_1680-5856insGCCT) c.2605_2606insGCCT (p.Ser869CysfsTer11) c.2671_2672insGCCT (p.Ser891CysfsTer11) c.2668_2669insGCCT (p.Ser890CysfsTer11) c.2641_2642insGCCT (p.Ser881CysfsTer11) c.2587_2588insGCCT (p.Ser863CysfsTer11) c.2560_2561insGCCT (p.Ser854CysfsTer11) c.2545_2546insGCCT (p.Ser849CysfsTer11) c.2152_2153insGCCT (p.Ser718CysfsTer11) c.2614_2615insGCCT (p.Ser872CysfsTer11) c.2551_2552insGCCT (p.Ser851CysfsTer11) c.2548_2549insGCCT (p.Ser850CysfsTer11) c.2506_2507insGCCT (p.Ser836CysfsTer11) c.1579_1580insGCCT (p.Ser527CysfsTer11)
20	g.63406701G>A	CA511339201	KCNQ2	c.2616C>T (p.Arg872=) c.2562C>T (p.Arg854=) c.1959C>T (p.Arg653=) c.2469C>T (p.Arg823=) c.2130C>T (p.Arg710=) c.2478C>T (p.Arg826=) c.2241+345C>T (n.2241+345C>T) c.2205+345C>T (n.2205+345C>T) c.2508C>T (p.Arg836=) c.2133+345C>T (n.2133+345C>T) c.1680-5858C>T (n.1680-5858C>T) c.2604C>T (p.Arg868=) c.2670C>T (p.Arg890=) c.2667C>T (p.Arg889=) c.2640C>T (p.Arg880=) c.2586C>T (p.Arg862=) c.2559C>T (p.Arg853=) c.2544C>T (p.Arg848=) c.2151C>T (p.Arg717=) c.2613C>T (p.Arg871=) c.2550C>T (p.Arg850=) c.2547C>T (p.Arg849=) c.2505C>T (p.Arg835=) c.1578C>T (p.Arg526=)	dbSNP
20	g.63406701G>C	CA511339202	KCNQ2	c.2616C>G (p.Arg872=) c.2562C>G (p.Arg854=) c.1959C>G (p.Arg653=) c.2469C>G (p.Arg823=) c.2130C>G (p.Arg710=) c.2478C>G (p.Arg826=) c.2241+345C>G (n.2241+345C>G) c.2205+345C>G (n.2205+345C>G) c.2508C>G (p.Arg836=) c.2133+345C>G (n.2133+345C>G) c.1680-5858C>G (n.1680-5858C>G) c.2604C>G (p.Arg868=) c.2670C>G (p.Arg890=) c.2667C>G (p.Arg889=) c.2640C>G (p.Arg880=) c.2586C>G (p.Arg862=) c.2559C>G (p.Arg853=) c.2544C>G (p.Arg848=) c.2151C>G (p.Arg717=) c.2613C>G (p.Arg871=) c.2550C>G (p.Arg850=) c.2547C>G (p.Arg849=) c.2505C>G (p.Arg835=) c.1578C>G (p.Arg526=)
20	g.63406701G=	CA2374774205	KCNQ2	c.2616C= (p.Arg872=) c.2562C= (p.Arg854=) c.1959C= (p.Arg653=) c.2469C= (p.Arg823=) c.2130C= (p.Arg710=) c.2478C= (p.Arg826=) c.2241+345C= (n.2241+345C=) c.2205+345C= (n.2205+345C=) c.2508C= (p.Arg836=) c.2133+345C= (n.2133+345C=) c.1680-5858C= (n.1680-5858C=) c.2604C= (p.Arg868=) c.2670C= (p.Arg890=) c.2667C= (p.Arg889=) c.2640C= (p.Arg880=) c.2586C= (p.Arg862=) c.2559C= (p.Arg853=) c.2544C= (p.Arg848=) c.2151C= (p.Arg717=) c.2613C= (p.Arg871=) c.2550C= (p.Arg850=) c.2547C= (p.Arg849=) c.2505C= (p.Arg835=) c.1578C= (p.Arg526=)
20	g.63406701G>T	CA511339203	KCNQ2	c.2616C>A (p.Arg872=) c.2562C>A (p.Arg854=) c.1959C>A (p.Arg653=) c.2469C>A (p.Arg823=) c.2130C>A (p.Arg710=) c.2478C>A (p.Arg826=) c.2241+345C>A (n.2241+345C>A) c.2205+345C>A (n.2205+345C>A) c.2508C>A (p.Arg836=) c.2133+345C>A (n.2133+345C>A) c.1680-5858C>A (n.1680-5858C>A) c.2604C>A (p.Arg868=) c.2670C>A (p.Arg890=) c.2667C>A (p.Arg889=) c.2640C>A (p.Arg880=) c.2586C>A (p.Arg862=) c.2559C>A (p.Arg853=) c.2544C>A (p.Arg848=) c.2151C>A (p.Arg717=) c.2613C>A (p.Arg871=) c.2550C>A (p.Arg850=) c.2547C>A (p.Arg849=) c.2505C>A (p.Arg835=) c.1578C>A (p.Arg526=)	gnomAD v4
20	g.63406702C>A	CA409636540	KCNQ2	c.2615G>T (p.Arg872Leu) c.2561G>T (p.Arg854Leu) c.1958G>T (p.Arg653Leu) c.2468G>T (p.Arg823Leu) c.2129G>T (p.Arg710Leu) c.2477G>T (p.Arg826Leu) c.2241+344G>T (n.2241+344G>T) c.2205+344G>T (n.2205+344G>T) c.2507G>T (p.Arg836Leu) c.2133+344G>T (n.2133+344G>T) c.1680-5859G>T (n.1680-5859G>T) c.2603G>T (p.Arg868Leu) c.2669G>T (p.Arg890Leu) c.2666G>T (p.Arg889Leu) c.2639G>T (p.Arg880Leu) c.2585G>T (p.Arg862Leu) c.2558G>T (p.Arg853Leu) c.2543G>T (p.Arg848Leu) c.2150G>T (p.Arg717Leu) c.2612G>T (p.Arg871Leu) c.2549G>T (p.Arg850Leu) c.2546G>T (p.Arg849Leu) c.2504G>T (p.Arg835Leu) c.1577G>T (p.Arg526Leu)	ClinVar dbSNP gnomAD v4
20	g.63406702C=	CA2374774206	KCNQ2	c.2615G= (p.Arg872=) c.2561G= (p.Arg854=) c.1958G= (p.Arg653=) c.2468G= (p.Arg823=) c.2129G= (p.Arg710=) c.2477G= (p.Arg826=) c.2241+344G= (n.2241+344G=) c.2205+344G= (n.2205+344G=) c.2507G= (p.Arg836=) c.2133+344G= (n.2133+344G=) c.1680-5859G= (n.1680-5859G=) c.2603G= (p.Arg868=) c.2669G= (p.Arg890=) c.2666G= (p.Arg889=) c.2639G= (p.Arg880=) c.2585G= (p.Arg862=) c.2558G= (p.Arg853=) c.2543G= (p.Arg848=) c.2150G= (p.Arg717=) c.2612G= (p.Arg871=) c.2549G= (p.Arg850=) c.2546G= (p.Arg849=) c.2504G= (p.Arg835=) c.1577G= (p.Arg526=)
20	g.63406702C>G	CA409636544	KCNQ2	c.2615G>C (p.Arg872Pro) c.2561G>C (p.Arg854Pro) c.1958G>C (p.Arg653Pro) c.2468G>C (p.Arg823Pro) c.2129G>C (p.Arg710Pro) c.2477G>C (p.Arg826Pro) c.2241+344G>C (n.2241+344G>C) c.2205+344G>C (n.2205+344G>C) c.2507G>C (p.Arg836Pro) c.2133+344G>C (n.2133+344G>C) c.1680-5859G>C (n.1680-5859G>C) c.2603G>C (p.Arg868Pro) c.2669G>C (p.Arg890Pro) c.2666G>C (p.Arg889Pro) c.2639G>C (p.Arg880Pro) c.2585G>C (p.Arg862Pro) c.2558G>C (p.Arg853Pro) c.2543G>C (p.Arg848Pro) c.2150G>C (p.Arg717Pro) c.2612G>C (p.Arg871Pro) c.2549G>C (p.Arg850Pro) c.2546G>C (p.Arg849Pro) c.2504G>C (p.Arg835Pro) c.1577G>C (p.Arg526Pro)	dbSNP gnomAD v4
20	g.63406702C>T	CA409636542	KCNQ2	c.2615G>A (p.Arg872His) c.2561G>A (p.Arg854His) c.1958G>A (p.Arg653His) c.2468G>A (p.Arg823His) c.2129G>A (p.Arg710His) c.2477G>A (p.Arg826His) c.2241+344G>A (n.2241+344G>A) c.2205+344G>A (n.2205+344G>A) c.2507G>A (p.Arg836His) c.2133+344G>A (n.2133+344G>A) c.1680-5859G>A (n.1680-5859G>A) c.2603G>A (p.Arg868His) c.2669G>A (p.Arg890His) c.2666G>A (p.Arg889His) c.2639G>A (p.Arg880His) c.2585G>A (p.Arg862His) c.2558G>A (p.Arg853His) c.2543G>A (p.Arg848His) c.2150G>A (p.Arg717His) c.2612G>A (p.Arg871His) c.2549G>A (p.Arg850His) c.2546G>A (p.Arg849His) c.2504G>A (p.Arg835His) c.1577G>A (p.Arg526His)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.63406703G>A	CA9958057	KCNQ2	c.2614C>T (p.Arg872Cys) c.2560C>T (p.Arg854Cys) c.1957C>T (p.Arg653Cys) c.2467C>T (p.Arg823Cys) c.2128C>T (p.Arg710Cys) c.2476C>T (p.Arg826Cys) c.2241+343C>T (n.2241+343C>T) c.2205+343C>T (n.2205+343C>T) c.2506C>T (p.Arg836Cys) c.2133+343C>T (n.2133+343C>T) c.1680-5860C>T (n.1680-5860C>T) c.2602C>T (p.Arg868Cys) c.2668C>T (p.Arg890Cys) c.2665C>T (p.Arg889Cys) c.2638C>T (p.Arg880Cys) c.2584C>T (p.Arg862Cys) c.2557C>T (p.Arg853Cys) c.2542C>T (p.Arg848Cys) c.2149C>T (p.Arg717Cys) c.2611C>T (p.Arg871Cys) c.2548C>T (p.Arg850Cys) c.2545C>T (p.Arg849Cys) c.2503C>T (p.Arg835Cys) c.1576C>T (p.Arg526Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406703G>C	CA409636548	KCNQ2	c.2614C>G (p.Arg872Gly) c.2560C>G (p.Arg854Gly) c.1957C>G (p.Arg653Gly) c.2467C>G (p.Arg823Gly) c.2128C>G (p.Arg710Gly) c.2476C>G (p.Arg826Gly) c.2241+343C>G (n.2241+343C>G) c.2205+343C>G (n.2205+343C>G) c.2506C>G (p.Arg836Gly) c.2133+343C>G (n.2133+343C>G) c.1680-5860C>G (n.1680-5860C>G) c.2602C>G (p.Arg868Gly) c.2668C>G (p.Arg890Gly) c.2665C>G (p.Arg889Gly) c.2638C>G (p.Arg880Gly) c.2584C>G (p.Arg862Gly) c.2557C>G (p.Arg853Gly) c.2542C>G (p.Arg848Gly) c.2149C>G (p.Arg717Gly) c.2611C>G (p.Arg871Gly) c.2548C>G (p.Arg850Gly) c.2545C>G (p.Arg849Gly) c.2503C>G (p.Arg835Gly) c.1576C>G (p.Arg526Gly)
20	g.63406703G=	CA2374774207	KCNQ2	c.2614C= (p.Arg872=) c.2560C= (p.Arg854=) c.1957C= (p.Arg653=) c.2467C= (p.Arg823=) c.2128C= (p.Arg710=) c.2476C= (p.Arg826=) c.2241+343C= (n.2241+343C=) c.2205+343C= (n.2205+343C=) c.2506C= (p.Arg836=) c.2133+343C= (n.2133+343C=) c.1680-5860C= (n.1680-5860C=) c.2602C= (p.Arg868=) c.2668C= (p.Arg890=) c.2665C= (p.Arg889=) c.2638C= (p.Arg880=) c.2584C= (p.Arg862=) c.2557C= (p.Arg853=) c.2542C= (p.Arg848=) c.2149C= (p.Arg717=) c.2611C= (p.Arg871=) c.2548C= (p.Arg850=) c.2545C= (p.Arg849=) c.2503C= (p.Arg835=) c.1576C= (p.Arg526=)
20	g.63406703G>T	CA409636550	KCNQ2	c.2614C>A (p.Arg872Ser) c.2560C>A (p.Arg854Ser) c.1957C>A (p.Arg653Ser) c.2467C>A (p.Arg823Ser) c.2128C>A (p.Arg710Ser) c.2476C>A (p.Arg826Ser) c.2241+343C>A (n.2241+343C>A) c.2205+343C>A (n.2205+343C>A) c.2506C>A (p.Arg836Ser) c.2133+343C>A (n.2133+343C>A) c.1680-5860C>A (n.1680-5860C>A) c.2602C>A (p.Arg868Ser) c.2668C>A (p.Arg890Ser) c.2665C>A (p.Arg889Ser) c.2638C>A (p.Arg880Ser) c.2584C>A (p.Arg862Ser) c.2557C>A (p.Arg853Ser) c.2542C>A (p.Arg848Ser) c.2149C>A (p.Arg717Ser) c.2611C>A (p.Arg871Ser) c.2548C>A (p.Arg850Ser) c.2545C>A (p.Arg849Ser) c.2503C>A (p.Arg835Ser) c.1576C>A (p.Arg526Ser)	gnomAD v4
20	g.63406703_63406704insCCGGAGTAGGCAATCTCCACGCCCT	CA2527180659	KCNQ2	c.2613_2614insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser873AlafsTer18) c.2559_2560insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser855AlafsTer18) c.1956_1957insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser654AlafsTer18) c.2466_2467insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser824AlafsTer18) c.2127_2128insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser711AlafsTer18) c.2475_2476insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser827AlafsTer18) c.2241+342_2241+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2241+342_2241+343insAGGGCGTGGAGATTGCCTACTCCGG) c.2205+342_2205+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2205+342_2205+343insAGGGCGTGGAGATTGCCTACTCCGG) c.2505_2506insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser837AlafsTer18) c.2133+342_2133+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2133+342_2133+343insAGGGCGTGGAGATTGCCTACTCCGG) c.1680-5861_1680-5860insAGGGCGTGGAGATTGCCTACTCCGG (n.1680-5861_1680-5860insAGGGCGTGGAGATTGCCTACTCCGG) c.2601_2602insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser869AlafsTer18) c.2667_2668insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser891AlafsTer18) c.2664_2665insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser890AlafsTer18) c.2637_2638insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser881AlafsTer18) c.2583_2584insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser863AlafsTer18) c.2556_2557insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser854AlafsTer18) c.2541_2542insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser849AlafsTer18) c.2148_2149insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser718AlafsTer18) c.2610_2611insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser872AlafsTer18) c.2547_2548insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser851AlafsTer18) c.2544_2545insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser850AlafsTer18) c.2502_2503insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser836AlafsTer18) c.1575_1576insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser527AlafsTer18)
20	g.63406704T>A	CA511339204	KCNQ2	c.2613A>T (p.Pro871=) c.2559A>T (p.Pro853=) c.1956A>T (p.Pro652=) c.2466A>T (p.Pro822=) c.2127A>T (p.Pro709=) c.2475A>T (p.Pro825=) c.2241+342A>T (n.2241+342A>T) c.2205+342A>T (n.2205+342A>T) c.2505A>T (p.Pro835=) c.2133+342A>T (n.2133+342A>T) c.1680-5861A>T (n.1680-5861A>T) c.2601A>T (p.Pro867=) c.2667A>T (p.Pro889=) c.2664A>T (p.Pro888=) c.2637A>T (p.Pro879=) c.2583A>T (p.Pro861=) c.2556A>T (p.Pro852=) c.2541A>T (p.Pro847=) c.2148A>T (p.Pro716=) c.2610A>T (p.Pro870=) c.2547A>T (p.Pro849=) c.2544A>T (p.Pro848=) c.2502A>T (p.Pro834=) c.1575A>T (p.Pro525=)
20	g.63406704T>C	CA511339205	KCNQ2	c.2613A>G (p.Pro871=) c.2559A>G (p.Pro853=) c.1956A>G (p.Pro652=) c.2466A>G (p.Pro822=) c.2127A>G (p.Pro709=) c.2475A>G (p.Pro825=) c.2241+342A>G (n.2241+342A>G) c.2205+342A>G (n.2205+342A>G) c.2505A>G (p.Pro835=) c.2133+342A>G (n.2133+342A>G) c.1680-5861A>G (n.1680-5861A>G) c.2601A>G (p.Pro867=) c.2667A>G (p.Pro889=) c.2664A>G (p.Pro888=) c.2637A>G (p.Pro879=) c.2583A>G (p.Pro861=) c.2556A>G (p.Pro852=) c.2541A>G (p.Pro847=) c.2148A>G (p.Pro716=) c.2610A>G (p.Pro870=) c.2547A>G (p.Pro849=) c.2544A>G (p.Pro848=) c.2502A>G (p.Pro834=) c.1575A>G (p.Pro525=)
20	g.63406704T>G	CA511339206	KCNQ2	c.2613A>C (p.Pro871=) c.2559A>C (p.Pro853=) c.1956A>C (p.Pro652=) c.2466A>C (p.Pro822=) c.2127A>C (p.Pro709=) c.2475A>C (p.Pro825=) c.2241+342A>C (n.2241+342A>C) c.2205+342A>C (n.2205+342A>C) c.2505A>C (p.Pro835=) c.2133+342A>C (n.2133+342A>C) c.1680-5861A>C (n.1680-5861A>C) c.2601A>C (p.Pro867=) c.2667A>C (p.Pro889=) c.2664A>C (p.Pro888=) c.2637A>C (p.Pro879=) c.2583A>C (p.Pro861=) c.2556A>C (p.Pro852=) c.2541A>C (p.Pro847=) c.2148A>C (p.Pro716=) c.2610A>C (p.Pro870=) c.2547A>C (p.Pro849=) c.2544A>C (p.Pro848=) c.2502A>C (p.Pro834=) c.1575A>C (p.Pro525=)
20	g.63406705G>A	CA409636552	KCNQ2	c.2612C>T (p.Pro871Leu) c.2558C>T (p.Pro853Leu) c.1955C>T (p.Pro652Leu) c.2465C>T (p.Pro822Leu) c.2126C>T (p.Pro709Leu) c.2474C>T (p.Pro825Leu) c.2241+341C>T (n.2241+341C>T) c.2205+341C>T (n.2205+341C>T) c.2504C>T (p.Pro835Leu) c.2133+341C>T (n.2133+341C>T) c.1680-5862C>T (n.1680-5862C>T) c.2600C>T (p.Pro867Leu) c.2666C>T (p.Pro889Leu) c.2663C>T (p.Pro888Leu) c.2636C>T (p.Pro879Leu) c.2582C>T (p.Pro861Leu) c.2555C>T (p.Pro852Leu) c.2540C>T (p.Pro847Leu) c.2147C>T (p.Pro716Leu) c.2609C>T (p.Pro870Leu) c.2546C>T (p.Pro849Leu) c.2543C>T (p.Pro848Leu) c.2501C>T (p.Pro834Leu) c.1574C>T (p.Pro525Leu)	COSMIC COSMIC COSMIC
20	g.63406705G>C	CA409636554	KCNQ2	c.2612C>G (p.Pro871Arg) c.2558C>G (p.Pro853Arg) c.1955C>G (p.Pro652Arg) c.2465C>G (p.Pro822Arg) c.2126C>G (p.Pro709Arg) c.2474C>G (p.Pro825Arg) c.2241+341C>G (n.2241+341C>G) c.2205+341C>G (n.2205+341C>G) c.2504C>G (p.Pro835Arg) c.2133+341C>G (n.2133+341C>G) c.1680-5862C>G (n.1680-5862C>G) c.2600C>G (p.Pro867Arg) c.2666C>G (p.Pro889Arg) c.2663C>G (p.Pro888Arg) c.2636C>G (p.Pro879Arg) c.2582C>G (p.Pro861Arg) c.2555C>G (p.Pro852Arg) c.2540C>G (p.Pro847Arg) c.2147C>G (p.Pro716Arg) c.2609C>G (p.Pro870Arg) c.2546C>G (p.Pro849Arg) c.2543C>G (p.Pro848Arg) c.2501C>G (p.Pro834Arg) c.1574C>G (p.Pro525Arg)
20	g.63406705G>T	CA409636556	KCNQ2	c.2612C>A (p.Pro871Gln) c.2558C>A (p.Pro853Gln) c.1955C>A (p.Pro652Gln) c.2465C>A (p.Pro822Gln) c.2126C>A (p.Pro709Gln) c.2474C>A (p.Pro825Gln) c.2241+341C>A (n.2241+341C>A) c.2205+341C>A (n.2205+341C>A) c.2504C>A (p.Pro835Gln) c.2133+341C>A (n.2133+341C>A) c.1680-5862C>A (n.1680-5862C>A) c.2600C>A (p.Pro867Gln) c.2666C>A (p.Pro889Gln) c.2663C>A (p.Pro888Gln) c.2636C>A (p.Pro879Gln) c.2582C>A (p.Pro861Gln) c.2555C>A (p.Pro852Gln) c.2540C>A (p.Pro847Gln) c.2147C>A (p.Pro716Gln) c.2609C>A (p.Pro870Gln) c.2546C>A (p.Pro849Gln) c.2543C>A (p.Pro848Gln) c.2501C>A (p.Pro834Gln) c.1574C>A (p.Pro525Gln)	gnomAD v4
20	g.63406705_63406706insCC	CA2545776156	KCNQ2	c.2611_2612insGG (p.Pro871ArgfsTer?) c.2557_2558insGG (p.Pro853ArgfsTer?) c.1954_1955insGG (p.Pro652ArgfsTer?) c.2464_2465insGG (p.Pro822ArgfsTer?) c.2125_2126insGG (p.Pro709ArgfsTer?) c.2473_2474insGG (p.Pro825ArgfsTer?) c.2241+340_2241+341insGG (n.2241+340_2241+341insGG) c.2205+340_2205+341insGG (n.2205+340_2205+341insGG) c.2503_2504insGG (p.Pro835ArgfsTer?) c.2133+340_2133+341insGG (n.2133+340_2133+341insGG) c.1680-5863_1680-5862insGG (n.1680-5863_1680-5862insGG) c.2599_2600insGG (p.Pro867ArgfsTer?) c.2665_2666insGG (p.Pro889ArgfsTer?) c.2662_2663insGG (p.Pro888ArgfsTer?) c.2635_2636insGG (p.Pro879ArgfsTer?) c.2581_2582insGG (p.Pro861ArgfsTer?) c.2554_2555insGG (p.Pro852ArgfsTer?) c.2539_2540insGG (p.Pro847ArgfsTer?) c.2146_2147insGG (p.Pro716ArgfsTer?) c.2608_2609insGG (p.Pro870ArgfsTer?) c.2545_2546insGG (p.Pro849ArgfsTer?) c.2542_2543insGG (p.Pro848ArgfsTer?) c.2500_2501insGG (p.Pro834ArgfsTer?) c.1573_1574insGG (p.Pro525ArgfsTer?)
20	g.63406706G>A	CA409636558	KCNQ2	c.2611C>T (p.Pro871Ser) c.2557C>T (p.Pro853Ser) c.1954C>T (p.Pro652Ser) c.2464C>T (p.Pro822Ser) c.2125C>T (p.Pro709Ser) c.2473C>T (p.Pro825Ser) c.2241+340C>T (n.2241+340C>T) c.2205+340C>T (n.2205+340C>T) c.2503C>T (p.Pro835Ser) c.2133+340C>T (n.2133+340C>T) c.1680-5863C>T (n.1680-5863C>T) c.2599C>T (p.Pro867Ser) c.2665C>T (p.Pro889Ser) c.2662C>T (p.Pro888Ser) c.2635C>T (p.Pro879Ser) c.2581C>T (p.Pro861Ser) c.2554C>T (p.Pro852Ser) c.2539C>T (p.Pro847Ser) c.2146C>T (p.Pro716Ser) c.2608C>T (p.Pro870Ser) c.2545C>T (p.Pro849Ser) c.2542C>T (p.Pro848Ser) c.2500C>T (p.Pro834Ser) c.1573C>T (p.Pro525Ser)	gnomAD v4
20	g.63406706G>C	CA409636560	KCNQ2	c.2611C>G (p.Pro871Ala) c.2557C>G (p.Pro853Ala) c.1954C>G (p.Pro652Ala) c.2464C>G (p.Pro822Ala) c.2125C>G (p.Pro709Ala) c.2473C>G (p.Pro825Ala) c.2241+340C>G (n.2241+340C>G) c.2205+340C>G (n.2205+340C>G) c.2503C>G (p.Pro835Ala) c.2133+340C>G (n.2133+340C>G) c.1680-5863C>G (n.1680-5863C>G) c.2599C>G (p.Pro867Ala) c.2665C>G (p.Pro889Ala) c.2662C>G (p.Pro888Ala) c.2635C>G (p.Pro879Ala) c.2581C>G (p.Pro861Ala) c.2554C>G (p.Pro852Ala) c.2539C>G (p.Pro847Ala) c.2146C>G (p.Pro716Ala) c.2608C>G (p.Pro870Ala) c.2545C>G (p.Pro849Ala) c.2542C>G (p.Pro848Ala) c.2500C>G (p.Pro834Ala) c.1573C>G (p.Pro525Ala)
20	g.63406706G>T	CA409636562	KCNQ2	c.2611C>A (p.Pro871Thr) c.2557C>A (p.Pro853Thr) c.1954C>A (p.Pro652Thr) c.2464C>A (p.Pro822Thr) c.2125C>A (p.Pro709Thr) c.2473C>A (p.Pro825Thr) c.2241+340C>A (n.2241+340C>A) c.2205+340C>A (n.2205+340C>A) c.2503C>A (p.Pro835Thr) c.2133+340C>A (n.2133+340C>A) c.1680-5863C>A (n.1680-5863C>A) c.2599C>A (p.Pro867Thr) c.2665C>A (p.Pro889Thr) c.2662C>A (p.Pro888Thr) c.2635C>A (p.Pro879Thr) c.2581C>A (p.Pro861Thr) c.2554C>A (p.Pro852Thr) c.2539C>A (p.Pro847Thr) c.2146C>A (p.Pro716Thr) c.2608C>A (p.Pro870Thr) c.2545C>A (p.Pro849Thr) c.2542C>A (p.Pro848Thr) c.2500C>A (p.Pro834Thr) c.1573C>A (p.Pro525Thr)
20	g.63406706_63406707insTACCCGC	CA2499225798	KCNQ2	c.2610_2611insGCGGGTA (p.Pro871AlafsTer14) c.2556_2557insGCGGGTA (p.Pro853AlafsTer14) c.1953_1954insGCGGGTA (p.Pro652AlafsTer14) c.2463_2464insGCGGGTA (p.Pro822AlafsTer14) c.2124_2125insGCGGGTA (p.Pro709AlafsTer14) c.2472_2473insGCGGGTA (p.Pro825AlafsTer14) c.2241+339_2241+340insGCGGGTA (n.2241+339_2241+340insGCGGGTA) c.2205+339_2205+340insGCGGGTA (n.2205+339_2205+340insGCGGGTA) c.2502_2503insGCGGGTA (p.Pro835AlafsTer14) c.2133+339_2133+340insGCGGGTA (n.2133+339_2133+340insGCGGGTA) c.1680-5864_1680-5863insGCGGGTA (n.1680-5864_1680-5863insGCGGGTA) c.2598_2599insGCGGGTA (p.Pro867AlafsTer14) c.2664_2665insGCGGGTA (p.Pro889AlafsTer14) c.2661_2662insGCGGGTA (p.Pro888AlafsTer14) c.2634_2635insGCGGGTA (p.Pro879AlafsTer14) c.2580_2581insGCGGGTA (p.Pro861AlafsTer14) c.2553_2554insGCGGGTA (p.Pro852AlafsTer14) c.2538_2539insGCGGGTA (p.Pro847AlafsTer14) c.2145_2146insGCGGGTA (p.Pro716AlafsTer14) c.2607_2608insGCGGGTA (p.Pro870AlafsTer14) c.2544_2545insGCGGGTA (p.Pro849AlafsTer14) c.2541_2542insGCGGGTA (p.Pro848AlafsTer14) c.2499_2500insGCGGGTA (p.Pro834AlafsTer14) c.1572_1573insGCGGGTA (p.Pro525AlafsTer14)	dbSNP
20	g.63406707C>A	CA511339207	KCNQ2	c.2610G>T (p.Pro870=) c.2556G>T (p.Pro852=) c.1953G>T (p.Pro651=) c.2463G>T (p.Pro821=) c.2124G>T (p.Pro708=) c.2472G>T (p.Pro824=) c.2241+339G>T (n.2241+339G>T) c.2205+339G>T (n.2205+339G>T) c.2502G>T (p.Pro834=) c.2133+339G>T (n.2133+339G>T) c.1680-5864G>T (n.1680-5864G>T) c.2598G>T (p.Pro866=) c.2664G>T (p.Pro888=) c.2661G>T (p.Pro887=) c.2634G>T (p.Pro878=) c.2580G>T (p.Pro860=) c.2553G>T (p.Pro851=) c.2538G>T (p.Pro846=) c.2145G>T (p.Pro715=) c.2607G>T (p.Pro869=) c.2544G>T (p.Pro848=) c.2541G>T (p.Pro847=) c.2499G>T (p.Pro833=) c.1572G>T (p.Pro524=)	gnomAD v4
20	g.63406707C=	CA2374774208	KCNQ2	c.2610G= (p.Pro870=) c.2556G= (p.Pro852=) c.1953G= (p.Pro651=) c.2463G= (p.Pro821=) c.2124G= (p.Pro708=) c.2472G= (p.Pro824=) c.2241+339G= (n.2241+339G=) c.2205+339G= (n.2205+339G=) c.2502G= (p.Pro834=) c.2133+339G= (n.2133+339G=) c.1680-5864G= (n.1680-5864G=) c.2598G= (p.Pro866=) c.2664G= (p.Pro888=) c.2661G= (p.Pro887=) c.2634G= (p.Pro878=) c.2580G= (p.Pro860=) c.2553G= (p.Pro851=) c.2538G= (p.Pro846=) c.2145G= (p.Pro715=) c.2607G= (p.Pro869=) c.2544G= (p.Pro848=) c.2541G= (p.Pro847=) c.2499G= (p.Pro833=) c.1572G= (p.Pro524=)
20	g.63406707C>G	CA511339208	KCNQ2	c.2610G>C (p.Pro870=) c.2556G>C (p.Pro852=) c.1953G>C (p.Pro651=) c.2463G>C (p.Pro821=) c.2124G>C (p.Pro708=) c.2472G>C (p.Pro824=) c.2241+339G>C (n.2241+339G>C) c.2205+339G>C (n.2205+339G>C) c.2502G>C (p.Pro834=) c.2133+339G>C (n.2133+339G>C) c.1680-5864G>C (n.1680-5864G>C) c.2598G>C (p.Pro866=) c.2664G>C (p.Pro888=) c.2661G>C (p.Pro887=) c.2634G>C (p.Pro878=) c.2580G>C (p.Pro860=) c.2553G>C (p.Pro851=) c.2538G>C (p.Pro846=) c.2145G>C (p.Pro715=) c.2607G>C (p.Pro869=) c.2544G>C (p.Pro848=) c.2541G>C (p.Pro847=) c.2499G>C (p.Pro833=) c.1572G>C (p.Pro524=)	gnomAD v4
20	g.63406707C>T	CA291821	KCNQ2	c.2610G>A (p.Pro870=) c.2556G>A (p.Pro852=) c.1953G>A (p.Pro651=) c.2463G>A (p.Pro821=) c.2124G>A (p.Pro708=) c.2472G>A (p.Pro824=) c.2241+339G>A (n.2241+339G>A) c.2205+339G>A (n.2205+339G>A) c.2502G>A (p.Pro834=) c.2133+339G>A (n.2133+339G>A) c.1680-5864G>A (n.1680-5864G>A) c.2598G>A (p.Pro866=) c.2664G>A (p.Pro888=) c.2661G>A (p.Pro887=) c.2634G>A (p.Pro878=) c.2580G>A (p.Pro860=) c.2553G>A (p.Pro851=) c.2538G>A (p.Pro846=) c.2145G>A (p.Pro715=) c.2607G>A (p.Pro869=) c.2544G>A (p.Pro848=) c.2541G>A (p.Pro847=) c.2499G>A (p.Pro833=) c.1572G>A (p.Pro524=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406707_63406708delinsCG	CA2374774209	KCNQ2	c.2609_2610delinsCG (p.Pro870=) c.2555_2556delinsCG (p.Pro852=) c.1952_1953delinsCG (p.Pro651=) c.2462_2463delinsCG (p.Pro821=) c.2123_2124delinsCG (p.Pro708=) c.2471_2472delinsCG (p.Pro824=) c.2241+338_2241+339delinsCG (n.2241+338_2241+339delinsCG) c.2205+338_2205+339delinsCG (n.2205+338_2205+339delinsCG) c.2501_2502delinsCG (p.Pro834=) c.2133+338_2133+339delinsCG (n.2133+338_2133+339delinsCG) c.1680-5865_1680-5864delinsCG (n.1680-5865_1680-5864delinsCG) c.2597_2598delinsCG (p.Pro866=) c.2663_2664delinsCG (p.Pro888=) c.2660_2661delinsCG (p.Pro887=) c.2633_2634delinsCG (p.Pro878=) c.2579_2580delinsCG (p.Pro860=) c.2552_2553delinsCG (p.Pro851=) c.2537_2538delinsCG (p.Pro846=) c.2144_2145delinsCG (p.Pro715=) c.2606_2607delinsCG (p.Pro869=) c.2543_2544delinsCG (p.Pro848=) c.2540_2541delinsCG (p.Pro847=) c.2498_2499delinsCG (p.Pro833=) c.1571_1572delinsCG (p.Pro524=)
20	g.63406708G>A	CA315536	KCNQ2	c.2609C>T (p.Pro870Leu) c.2555C>T (p.Pro852Leu) c.1952C>T (p.Pro651Leu) c.2462C>T (p.Pro821Leu) c.2123C>T (p.Pro708Leu) c.2471C>T (p.Pro824Leu) c.2241+338C>T (n.2241+338C>T) c.2205+338C>T (n.2205+338C>T) c.2501C>T (p.Pro834Leu) c.2133+338C>T (n.2133+338C>T) c.1680-5865C>T (n.1680-5865C>T) c.2597C>T (p.Pro866Leu) c.2663C>T (p.Pro888Leu) c.2660C>T (p.Pro887Leu) c.2633C>T (p.Pro878Leu) c.2579C>T (p.Pro860Leu) c.2552C>T (p.Pro851Leu) c.2537C>T (p.Pro846Leu) c.2144C>T (p.Pro715Leu) c.2606C>T (p.Pro869Leu) c.2543C>T (p.Pro848Leu) c.2540C>T (p.Pro847Leu) c.2498C>T (p.Pro833Leu) c.1571C>T (p.Pro524Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406708G>C	CA409636564	KCNQ2	c.2609C>G (p.Pro870Arg) c.2555C>G (p.Pro852Arg) c.1952C>G (p.Pro651Arg) c.2462C>G (p.Pro821Arg) c.2123C>G (p.Pro708Arg) c.2471C>G (p.Pro824Arg) c.2241+338C>G (n.2241+338C>G) c.2205+338C>G (n.2205+338C>G) c.2501C>G (p.Pro834Arg) c.2133+338C>G (n.2133+338C>G) c.1680-5865C>G (n.1680-5865C>G) c.2597C>G (p.Pro866Arg) c.2663C>G (p.Pro888Arg) c.2660C>G (p.Pro887Arg) c.2633C>G (p.Pro878Arg) c.2579C>G (p.Pro860Arg) c.2552C>G (p.Pro851Arg) c.2537C>G (p.Pro846Arg) c.2144C>G (p.Pro715Arg) c.2606C>G (p.Pro869Arg) c.2543C>G (p.Pro848Arg) c.2540C>G (p.Pro847Arg) c.2498C>G (p.Pro833Arg) c.1571C>G (p.Pro524Arg)
20	g.63406708G=	CA2374774210	KCNQ2	c.2609C= (p.Pro870=) c.2555C= (p.Pro852=) c.1952C= (p.Pro651=) c.2462C= (p.Pro821=) c.2123C= (p.Pro708=) c.2471C= (p.Pro824=) c.2241+338C= (n.2241+338C=) c.2205+338C= (n.2205+338C=) c.2501C= (p.Pro834=) c.2133+338C= (n.2133+338C=) c.1680-5865C= (n.1680-5865C=) c.2597C= (p.Pro866=) c.2663C= (p.Pro888=) c.2660C= (p.Pro887=) c.2633C= (p.Pro878=) c.2579C= (p.Pro860=) c.2552C= (p.Pro851=) c.2537C= (p.Pro846=) c.2144C= (p.Pro715=) c.2606C= (p.Pro869=) c.2543C= (p.Pro848=) c.2540C= (p.Pro847=) c.2498C= (p.Pro833=) c.1571C= (p.Pro524=)
20	g.63406708G>T	CA409636566	KCNQ2	c.2609C>A (p.Pro870Gln) c.2555C>A (p.Pro852Gln) c.1952C>A (p.Pro651Gln) c.2462C>A (p.Pro821Gln) c.2123C>A (p.Pro708Gln) c.2471C>A (p.Pro824Gln) c.2241+338C>A (n.2241+338C>A) c.2205+338C>A (n.2205+338C>A) c.2501C>A (p.Pro834Gln) c.2133+338C>A (n.2133+338C>A) c.1680-5865C>A (n.1680-5865C>A) c.2597C>A (p.Pro866Gln) c.2663C>A (p.Pro888Gln) c.2660C>A (p.Pro887Gln) c.2633C>A (p.Pro878Gln) c.2579C>A (p.Pro860Gln) c.2552C>A (p.Pro851Gln) c.2537C>A (p.Pro846Gln) c.2144C>A (p.Pro715Gln) c.2606C>A (p.Pro869Gln) c.2543C>A (p.Pro848Gln) c.2540C>A (p.Pro847Gln) c.2498C>A (p.Pro833Gln) c.1571C>A (p.Pro524Gln)	gnomAD v4
20	g.63406712dup	CA2580098388	KCNQ2	c.2609dup (p.Pro871AlafsTer12) c.2555dup (p.Pro853AlafsTer12) c.1952dup (p.Pro652AlafsTer12) c.2462dup (p.Pro822AlafsTer12) c.2123dup (p.Pro709AlafsTer12) c.2471dup (p.Pro825AlafsTer12) c.2241+338dup (n.2241+338dup) c.2205+338dup (n.2205+338dup) c.2501dup (p.Pro835AlafsTer12) c.2133+338dup (n.2133+338dup) c.1680-5865dup (n.1680-5865dup) c.2597dup (p.Pro867AlafsTer12) c.2663dup (p.Pro889AlafsTer12) c.2660dup (p.Pro888AlafsTer12) c.2633dup (p.Pro879AlafsTer12) c.2579dup (p.Pro861AlafsTer12) c.2552dup (p.Pro852AlafsTer12) c.2537dup (p.Pro847AlafsTer12) c.2144dup (p.Pro716AlafsTer12) c.2606dup (p.Pro870AlafsTer12) c.2543dup (p.Pro849AlafsTer12) c.2540dup (p.Pro848AlafsTer12) c.2498dup (p.Pro834AlafsTer12) c.1571dup (p.Pro525AlafsTer12)	ClinVar
20	g.63406712del	CA16620959	KCNQ2	c.2609del (p.Pro870ArgfsTer?) c.2555del (p.Pro852ArgfsTer?) c.1952del (p.Pro651ArgfsTer?) c.2462del (p.Pro821ArgfsTer?) c.2123del (p.Pro708ArgfsTer?) c.2471del (p.Pro824ArgfsTer?) c.2241+338del (n.2241+338del) c.2205+338del (n.2205+338del) c.2501del (p.Pro834ArgfsTer?) c.2133+338del (n.2133+338del) c.1680-5865del (n.1680-5865del) c.2597del (p.Pro866ArgfsTer?) c.2663del (p.Pro888ArgfsTer?) c.2660del (p.Pro887ArgfsTer?) c.2633del (p.Pro878ArgfsTer?) c.2579del (p.Pro860ArgfsTer?) c.2552del (p.Pro851ArgfsTer?) c.2537del (p.Pro846ArgfsTer?) c.2144del (p.Pro715ArgfsTer?) c.2606del (p.Pro869ArgfsTer?) c.2543del (p.Pro848ArgfsTer?) c.2540del (p.Pro847ArgfsTer?) c.2498del (p.Pro833ArgfsTer?) c.1571del (p.Pro524ArgfsTer?)	ClinVar dbSNP gnomAD v4
20	g.63406708_63406709insCCAATC	CA2557562509	KCNQ2	c.2608_2609insGATTGG (p.Pro870delinsArgLeuAla) c.2554_2555insGATTGG (p.Pro852delinsArgLeuAla) c.1951_1952insGATTGG (p.Pro651delinsArgLeuAla) c.2461_2462insGATTGG (p.Pro821delinsArgLeuAla) c.2122_2123insGATTGG (p.Pro708delinsArgLeuAla) c.2470_2471insGATTGG (p.Pro824delinsArgLeuAla) c.2241+337_2241+338insGATTGG (n.2241+337_2241+338insGATTGG) c.2205+337_2205+338insGATTGG (n.2205+337_2205+338insGATTGG) c.2500_2501insGATTGG (p.Pro834delinsArgLeuAla) c.2133+337_2133+338insGATTGG (n.2133+337_2133+338insGATTGG) c.1680-5866_1680-5865insGATTGG (n.1680-5866_1680-5865insGATTGG) c.2596_2597insGATTGG (p.Pro866delinsArgLeuAla) c.2662_2663insGATTGG (p.Pro888delinsArgLeuAla) c.2659_2660insGATTGG (p.Pro887delinsArgLeuAla) c.2632_2633insGATTGG (p.Pro878delinsArgLeuAla) c.2578_2579insGATTGG (p.Pro860delinsArgLeuAla) c.2551_2552insGATTGG (p.Pro851delinsArgLeuAla) c.2536_2537insGATTGG (p.Pro846delinsArgLeuAla) c.2143_2144insGATTGG (p.Pro715delinsArgLeuAla) c.2605_2606insGATTGG (p.Pro869delinsArgLeuAla) c.2542_2543insGATTGG (p.Pro848delinsArgLeuAla) c.2539_2540insGATTGG (p.Pro847delinsArgLeuAla) c.2497_2498insGATTGG (p.Pro833delinsArgLeuAla) c.1570_1571insGATTGG (p.Pro524delinsArgLeuAla)
20	g.63406709G>A	CA409636569	KCNQ2	c.2608C>T (p.Pro870Ser) c.2554C>T (p.Pro852Ser) c.1951C>T (p.Pro651Ser) c.2461C>T (p.Pro821Ser) c.2122C>T (p.Pro708Ser) c.2470C>T (p.Pro824Ser) c.2241+337C>T (n.2241+337C>T) c.2205+337C>T (n.2205+337C>T) c.2500C>T (p.Pro834Ser) c.2133+337C>T (n.2133+337C>T) c.1680-5866C>T (n.1680-5866C>T) c.2596C>T (p.Pro866Ser) c.2662C>T (p.Pro888Ser) c.2659C>T (p.Pro887Ser) c.2632C>T (p.Pro878Ser) c.2578C>T (p.Pro860Ser) c.2551C>T (p.Pro851Ser) c.2536C>T (p.Pro846Ser) c.2143C>T (p.Pro715Ser) c.2605C>T (p.Pro869Ser) c.2542C>T (p.Pro848Ser) c.2539C>T (p.Pro847Ser) c.2497C>T (p.Pro833Ser) c.1570C>T (p.Pro524Ser)
20	g.63406709G>C	CA409636571	KCNQ2	c.2608C>G (p.Pro870Ala) c.2554C>G (p.Pro852Ala) c.1951C>G (p.Pro651Ala) c.2461C>G (p.Pro821Ala) c.2122C>G (p.Pro708Ala) c.2470C>G (p.Pro824Ala) c.2241+337C>G (n.2241+337C>G) c.2205+337C>G (n.2205+337C>G) c.2500C>G (p.Pro834Ala) c.2133+337C>G (n.2133+337C>G) c.1680-5866C>G (n.1680-5866C>G) c.2596C>G (p.Pro866Ala) c.2662C>G (p.Pro888Ala) c.2659C>G (p.Pro887Ala) c.2632C>G (p.Pro878Ala) c.2578C>G (p.Pro860Ala) c.2551C>G (p.Pro851Ala) c.2536C>G (p.Pro846Ala) c.2143C>G (p.Pro715Ala) c.2605C>G (p.Pro869Ala) c.2542C>G (p.Pro848Ala) c.2539C>G (p.Pro847Ala) c.2497C>G (p.Pro833Ala) c.1570C>G (p.Pro524Ala)	dbSNP gnomAD v2 gnomAD v4
20	g.63406709G=	CA2374774211	KCNQ2	c.2608C= (p.Pro870=) c.2554C= (p.Pro852=) c.1951C= (p.Pro651=) c.2461C= (p.Pro821=) c.2122C= (p.Pro708=) c.2470C= (p.Pro824=) c.2241+337C= (n.2241+337C=) c.2205+337C= (n.2205+337C=) c.2500C= (p.Pro834=) c.2133+337C= (n.2133+337C=) c.1680-5866C= (n.1680-5866C=) c.2596C= (p.Pro866=) c.2662C= (p.Pro888=) c.2659C= (p.Pro887=) c.2632C= (p.Pro878=) c.2578C= (p.Pro860=) c.2551C= (p.Pro851=) c.2536C= (p.Pro846=) c.2143C= (p.Pro715=) c.2605C= (p.Pro869=) c.2542C= (p.Pro848=) c.2539C= (p.Pro847=) c.2497C= (p.Pro833=) c.1570C= (p.Pro524=)
20	g.63406709G>T	CA409636573	KCNQ2	c.2608C>A (p.Pro870Thr) c.2554C>A (p.Pro852Thr) c.1951C>A (p.Pro651Thr) c.2461C>A (p.Pro821Thr) c.2122C>A (p.Pro708Thr) c.2470C>A (p.Pro824Thr) c.2241+337C>A (n.2241+337C>A) c.2205+337C>A (n.2205+337C>A) c.2500C>A (p.Pro834Thr) c.2133+337C>A (n.2133+337C>A) c.1680-5866C>A (n.1680-5866C>A) c.2596C>A (p.Pro866Thr) c.2662C>A (p.Pro888Thr) c.2659C>A (p.Pro887Thr) c.2632C>A (p.Pro878Thr) c.2578C>A (p.Pro860Thr) c.2551C>A (p.Pro851Thr) c.2536C>A (p.Pro846Thr) c.2143C>A (p.Pro715Thr) c.2605C>A (p.Pro869Thr) c.2542C>A (p.Pro848Thr) c.2539C>A (p.Pro847Thr) c.2497C>A (p.Pro833Thr) c.1570C>A (p.Pro524Thr)	gnomAD v4
20	g.63406710G>A	CA511339209	KCNQ2	c.2607C>T (p.Pro869=) c.2553C>T (p.Pro851=) c.1950C>T (p.Pro650=) c.2460C>T (p.Pro820=) c.2121C>T (p.Pro707=) c.2469C>T (p.Pro823=) c.2241+336C>T (n.2241+336C>T) c.2205+336C>T (n.2205+336C>T) c.2499C>T (p.Pro833=) c.2133+336C>T (n.2133+336C>T) c.1680-5867C>T (n.1680-5867C>T) c.2595C>T (p.Pro865=) c.2661C>T (p.Pro887=) c.2658C>T (p.Pro886=) c.2631C>T (p.Pro877=) c.2577C>T (p.Pro859=) c.2550C>T (p.Pro850=) c.2535C>T (p.Pro845=) c.2142C>T (p.Pro714=) c.2604C>T (p.Pro868=) c.2541C>T (p.Pro847=) c.2538C>T (p.Pro846=) c.2496C>T (p.Pro832=) c.1569C>T (p.Pro523=)	ClinVar dbSNP
20	g.63406710G>C	CA511339210	KCNQ2	c.2607C>G (p.Pro869=) c.2553C>G (p.Pro851=) c.1950C>G (p.Pro650=) c.2460C>G (p.Pro820=) c.2121C>G (p.Pro707=) c.2469C>G (p.Pro823=) c.2241+336C>G (n.2241+336C>G) c.2205+336C>G (n.2205+336C>G) c.2499C>G (p.Pro833=) c.2133+336C>G (n.2133+336C>G) c.1680-5867C>G (n.1680-5867C>G) c.2595C>G (p.Pro865=) c.2661C>G (p.Pro887=) c.2658C>G (p.Pro886=) c.2631C>G (p.Pro877=) c.2577C>G (p.Pro859=) c.2550C>G (p.Pro850=) c.2535C>G (p.Pro845=) c.2142C>G (p.Pro714=) c.2604C>G (p.Pro868=) c.2541C>G (p.Pro847=) c.2538C>G (p.Pro846=) c.2496C>G (p.Pro832=) c.1569C>G (p.Pro523=)
20	g.63406710G=	CA2374774212	KCNQ2	c.2607C= (p.Pro869=) c.2553C= (p.Pro851=) c.1950C= (p.Pro650=) c.2460C= (p.Pro820=) c.2121C= (p.Pro707=) c.2469C= (p.Pro823=) c.2241+336C= (n.2241+336C=) c.2205+336C= (n.2205+336C=) c.2499C= (p.Pro833=) c.2133+336C= (n.2133+336C=) c.1680-5867C= (n.1680-5867C=) c.2595C= (p.Pro865=) c.2661C= (p.Pro887=) c.2658C= (p.Pro886=) c.2631C= (p.Pro877=) c.2577C= (p.Pro859=) c.2550C= (p.Pro850=) c.2535C= (p.Pro845=) c.2142C= (p.Pro714=) c.2604C= (p.Pro868=) c.2541C= (p.Pro847=) c.2538C= (p.Pro846=) c.2496C= (p.Pro832=) c.1569C= (p.Pro523=)
20	g.63406710G>T	CA511339211	KCNQ2	c.2607C>A (p.Pro869=) c.2553C>A (p.Pro851=) c.1950C>A (p.Pro650=) c.2460C>A (p.Pro820=) c.2121C>A (p.Pro707=) c.2469C>A (p.Pro823=) c.2241+336C>A (n.2241+336C>A) c.2205+336C>A (n.2205+336C>A) c.2499C>A (p.Pro833=) c.2133+336C>A (n.2133+336C>A) c.1680-5867C>A (n.1680-5867C>A) c.2595C>A (p.Pro865=) c.2661C>A (p.Pro887=) c.2658C>A (p.Pro886=) c.2631C>A (p.Pro877=) c.2577C>A (p.Pro859=) c.2550C>A (p.Pro850=) c.2535C>A (p.Pro845=) c.2142C>A (p.Pro714=) c.2604C>A (p.Pro868=) c.2541C>A (p.Pro847=) c.2538C>A (p.Pro846=) c.2496C>A (p.Pro832=) c.1569C>A (p.Pro523=)	gnomAD v4
20	g.63406710_63406711insAGGAGCGCTCACTGAAGAAGCCGTCCGTCACGATGTCGGAAAGCGCCTGAGAGTTCATCTCATAGGTCGCCGA	CA2551653830	KCNQ2	c.2606_2607insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro870ArgfsTer6) c.2552_2553insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro852ArgfsTer6) c.1949_1950insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro651ArgfsTer6) c.2459_2460insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro821ArgfsTer6) c.2120_2121insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro708ArgfsTer6) c.2468_2469insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro824ArgfsTer6) c.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.2498_2499insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro834ArgfsTer6) c.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.2594_2595insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro866ArgfsTer6) c.2660_2661insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro888ArgfsTer6) c.2657_2658insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro887ArgfsTer6) c.2630_2631insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro878ArgfsTer6) c.2576_2577insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro860ArgfsTer6) c.2549_2550insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro851ArgfsTer6) c.2534_2535insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro846ArgfsTer6) c.2141_2142insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro715ArgfsTer6) c.2603_2604insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro869ArgfsTer6) c.2540_2541insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro848ArgfsTer6) c.2537_2538insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro847ArgfsTer6) c.2495_2496insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro833ArgfsTer6) c.1568_1569insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro524ArgfsTer6)
20	g.63406711G>A	CA409636574	KCNQ2	c.2606C>T (p.Pro869Leu) c.2552C>T (p.Pro851Leu) c.1949C>T (p.Pro650Leu) c.2459C>T (p.Pro820Leu) c.2120C>T (p.Pro707Leu) c.2468C>T (p.Pro823Leu) c.2241+335C>T (n.2241+335C>T) c.2205+335C>T (n.2205+335C>T) c.2498C>T (p.Pro833Leu) c.2133+335C>T (n.2133+335C>T) c.1680-5868C>T (n.1680-5868C>T) c.2594C>T (p.Pro865Leu) c.2660C>T (p.Pro887Leu) c.2657C>T (p.Pro886Leu) c.2630C>T (p.Pro877Leu) c.2576C>T (p.Pro859Leu) c.2549C>T (p.Pro850Leu) c.2534C>T (p.Pro845Leu) c.2141C>T (p.Pro714Leu) c.2603C>T (p.Pro868Leu) c.2540C>T (p.Pro847Leu) c.2537C>T (p.Pro846Leu) c.2495C>T (p.Pro832Leu) c.1568C>T (p.Pro523Leu)
20	g.63406711G>C	CA409636575	KCNQ2	c.2606C>G (p.Pro869Arg) c.2552C>G (p.Pro851Arg) c.1949C>G (p.Pro650Arg) c.2459C>G (p.Pro820Arg) c.2120C>G (p.Pro707Arg) c.2468C>G (p.Pro823Arg) c.2241+335C>G (n.2241+335C>G) c.2205+335C>G (n.2205+335C>G) c.2498C>G (p.Pro833Arg) c.2133+335C>G (n.2133+335C>G) c.1680-5868C>G (n.1680-5868C>G) c.2594C>G (p.Pro865Arg) c.2660C>G (p.Pro887Arg) c.2657C>G (p.Pro886Arg) c.2630C>G (p.Pro877Arg) c.2576C>G (p.Pro859Arg) c.2549C>G (p.Pro850Arg) c.2534C>G (p.Pro845Arg) c.2141C>G (p.Pro714Arg) c.2603C>G (p.Pro868Arg) c.2540C>G (p.Pro847Arg) c.2537C>G (p.Pro846Arg) c.2495C>G (p.Pro832Arg) c.1568C>G (p.Pro523Arg)
20	g.63406711G>T	CA409636577	KCNQ2	c.2606C>A (p.Pro869His) c.2552C>A (p.Pro851His) c.1949C>A (p.Pro650His) c.2459C>A (p.Pro820His) c.2120C>A (p.Pro707His) c.2468C>A (p.Pro823His) c.2241+335C>A (n.2241+335C>A) c.2205+335C>A (n.2205+335C>A) c.2498C>A (p.Pro833His) c.2133+335C>A (n.2133+335C>A) c.1680-5868C>A (n.1680-5868C>A) c.2594C>A (p.Pro865His) c.2660C>A (p.Pro887His) c.2657C>A (p.Pro886His) c.2630C>A (p.Pro877His) c.2576C>A (p.Pro859His) c.2549C>A (p.Pro850His) c.2534C>A (p.Pro845His) c.2141C>A (p.Pro714His) c.2603C>A (p.Pro868His) c.2540C>A (p.Pro847His) c.2537C>A (p.Pro846His) c.2495C>A (p.Pro832His) c.1568C>A (p.Pro523His)
20	g.63406712G>A	CA409636579	KCNQ2	c.2605C>T (p.Pro869Ser) c.2551C>T (p.Pro851Ser) c.1948C>T (p.Pro650Ser) c.2458C>T (p.Pro820Ser) c.2119C>T (p.Pro707Ser) c.2467C>T (p.Pro823Ser) c.2241+334C>T (n.2241+334C>T) c.2205+334C>T (n.2205+334C>T) c.2497C>T (p.Pro833Ser) c.2133+334C>T (n.2133+334C>T) c.1680-5869C>T (n.1680-5869C>T) c.2593C>T (p.Pro865Ser) c.2659C>T (p.Pro887Ser) c.2656C>T (p.Pro886Ser) c.2629C>T (p.Pro877Ser) c.2575C>T (p.Pro859Ser) c.2548C>T (p.Pro850Ser) c.2533C>T (p.Pro845Ser) c.2140C>T (p.Pro714Ser) c.2602C>T (p.Pro868Ser) c.2539C>T (p.Pro847Ser) c.2536C>T (p.Pro846Ser) c.2494C>T (p.Pro832Ser) c.1567C>T (p.Pro523Ser)
20	g.63406712G>C	CA409636580	KCNQ2	c.2605C>G (p.Pro869Ala) c.2551C>G (p.Pro851Ala) c.1948C>G (p.Pro650Ala) c.2458C>G (p.Pro820Ala) c.2119C>G (p.Pro707Ala) c.2467C>G (p.Pro823Ala) c.2241+334C>G (n.2241+334C>G) c.2205+334C>G (n.2205+334C>G) c.2497C>G (p.Pro833Ala) c.2133+334C>G (n.2133+334C>G) c.1680-5869C>G (n.1680-5869C>G) c.2593C>G (p.Pro865Ala) c.2659C>G (p.Pro887Ala) c.2656C>G (p.Pro886Ala) c.2629C>G (p.Pro877Ala) c.2575C>G (p.Pro859Ala) c.2548C>G (p.Pro850Ala) c.2533C>G (p.Pro845Ala) c.2140C>G (p.Pro714Ala) c.2602C>G (p.Pro868Ala) c.2539C>G (p.Pro847Ala) c.2536C>G (p.Pro846Ala) c.2494C>G (p.Pro832Ala) c.1567C>G (p.Pro523Ala)	gnomAD v4
20	g.63406712G>T	CA409636583	KCNQ2	c.2605C>A (p.Pro869Thr) c.2551C>A (p.Pro851Thr) c.1948C>A (p.Pro650Thr) c.2458C>A (p.Pro820Thr) c.2119C>A (p.Pro707Thr) c.2467C>A (p.Pro823Thr) c.2241+334C>A (n.2241+334C>A) c.2205+334C>A (n.2205+334C>A) c.2497C>A (p.Pro833Thr) c.2133+334C>A (n.2133+334C>A) c.1680-5869C>A (n.1680-5869C>A) c.2593C>A (p.Pro865Thr) c.2659C>A (p.Pro887Thr) c.2656C>A (p.Pro886Thr) c.2629C>A (p.Pro877Thr) c.2575C>A (p.Pro859Thr) c.2548C>A (p.Pro850Thr) c.2533C>A (p.Pro845Thr) c.2140C>A (p.Pro714Thr) c.2602C>A (p.Pro868Thr) c.2539C>A (p.Pro847Thr) c.2536C>A (p.Pro846Thr) c.2494C>A (p.Pro832Thr) c.1567C>A (p.Pro523Thr)	gnomAD v4
20	g.63406713C>A	CA511339213	KCNQ2	c.2604G>T (p.Gly868=) c.2550G>T (p.Gly850=) c.1947G>T (p.Gly649=) c.2457G>T (p.Gly819=) c.2118G>T (p.Gly706=) c.2466G>T (p.Gly822=) c.2241+333G>T (n.2241+333G>T) c.2205+333G>T (n.2205+333G>T) c.2496G>T (p.Gly832=) c.2133+333G>T (n.2133+333G>T) c.1680-5870G>T (n.1680-5870G>T) c.2592G>T (p.Gly864=) c.2658G>T (p.Gly886=) c.2655G>T (p.Gly885=) c.2628G>T (p.Gly876=) c.2574G>T (p.Gly858=) c.2547G>T (p.Gly849=) c.2532G>T (p.Gly844=) c.2139G>T (p.Gly713=) c.2601G>T (p.Gly867=) c.2538G>T (p.Gly846=) c.2535G>T (p.Gly845=) c.2493G>T (p.Gly831=) c.1566G>T (p.Gly522=)	gnomAD v4
20	g.63406713C=	CA2374774213	KCNQ2	c.2604G= (p.Gly868=) c.2550G= (p.Gly850=) c.1947G= (p.Gly649=) c.2457G= (p.Gly819=) c.2118G= (p.Gly706=) c.2466G= (p.Gly822=) c.2241+333G= (n.2241+333G=) c.2205+333G= (n.2205+333G=) c.2496G= (p.Gly832=) c.2133+333G= (n.2133+333G=) c.1680-5870G= (n.1680-5870G=) c.2592G= (p.Gly864=) c.2658G= (p.Gly886=) c.2655G= (p.Gly885=) c.2628G= (p.Gly876=) c.2574G= (p.Gly858=) c.2547G= (p.Gly849=) c.2532G= (p.Gly844=) c.2139G= (p.Gly713=) c.2601G= (p.Gly867=) c.2538G= (p.Gly846=) c.2535G= (p.Gly845=) c.2493G= (p.Gly831=) c.1566G= (p.Gly522=)
20	g.63406713C>G	CA9958058	KCNQ2	c.2604G>C (p.Gly868=) c.2550G>C (p.Gly850=) c.1947G>C (p.Gly649=) c.2457G>C (p.Gly819=) c.2118G>C (p.Gly706=) c.2466G>C (p.Gly822=) c.2241+333G>C (n.2241+333G>C) c.2205+333G>C (n.2205+333G>C) c.2496G>C (p.Gly832=) c.2133+333G>C (n.2133+333G>C) c.1680-5870G>C (n.1680-5870G>C) c.2592G>C (p.Gly864=) c.2658G>C (p.Gly886=) c.2655G>C (p.Gly885=) c.2628G>C (p.Gly876=) c.2574G>C (p.Gly858=) c.2547G>C (p.Gly849=) c.2532G>C (p.Gly844=) c.2139G>C (p.Gly713=) c.2601G>C (p.Gly867=) c.2538G>C (p.Gly846=) c.2535G>C (p.Gly845=) c.2493G>C (p.Gly831=) c.1566G>C (p.Gly522=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63406713C>T	CA511339212	KCNQ2	c.2604G>A (p.Gly868=) c.2550G>A (p.Gly850=) c.1947G>A (p.Gly649=) c.2457G>A (p.Gly819=) c.2118G>A (p.Gly706=) c.2466G>A (p.Gly822=) c.2241+333G>A (n.2241+333G>A) c.2205+333G>A (n.2205+333G>A) c.2496G>A (p.Gly832=) c.2133+333G>A (n.2133+333G>A) c.1680-5870G>A (n.1680-5870G>A) c.2592G>A (p.Gly864=) c.2658G>A (p.Gly886=) c.2655G>A (p.Gly885=) c.2628G>A (p.Gly876=) c.2574G>A (p.Gly858=) c.2547G>A (p.Gly849=) c.2532G>A (p.Gly844=) c.2139G>A (p.Gly713=) c.2601G>A (p.Gly867=) c.2538G>A (p.Gly846=) c.2535G>A (p.Gly845=) c.2493G>A (p.Gly831=) c.1566G>A (p.Gly522=)	dbSNP gnomAD v2 gnomAD v4
20	g.63406714C>A	CA409636588	KCNQ2	c.2603G>T (p.Gly868Val) c.2549G>T (p.Gly850Val) c.1946G>T (p.Gly649Val) c.2456G>T (p.Gly819Val) c.2117G>T (p.Gly706Val) c.2465G>T (p.Gly822Val) c.2241+332G>T (n.2241+332G>T) c.2205+332G>T (n.2205+332G>T) c.2495G>T (p.Gly832Val) c.2133+332G>T (n.2133+332G>T) c.1680-5871G>T (n.1680-5871G>T) c.2591G>T (p.Gly864Val) c.2657G>T (p.Gly886Val) c.2654G>T (p.Gly885Val) c.2627G>T (p.Gly876Val) c.2573G>T (p.Gly858Val) c.2546G>T (p.Gly849Val) c.2531G>T (p.Gly844Val) c.2138G>T (p.Gly713Val) c.2600G>T (p.Gly867Val) c.2537G>T (p.Gly846Val) c.2534G>T (p.Gly845Val) c.2492G>T (p.Gly831Val) c.1565G>T (p.Gly522Val)
20	g.63406714C>G	CA409636590	KCNQ2	c.2603G>C (p.Gly868Ala) c.2549G>C (p.Gly850Ala) c.1946G>C (p.Gly649Ala) c.2456G>C (p.Gly819Ala) c.2117G>C (p.Gly706Ala) c.2465G>C (p.Gly822Ala) c.2241+332G>C (n.2241+332G>C) c.2205+332G>C (n.2205+332G>C) c.2495G>C (p.Gly832Ala) c.2133+332G>C (n.2133+332G>C) c.1680-5871G>C (n.1680-5871G>C) c.2591G>C (p.Gly864Ala) c.2657G>C (p.Gly886Ala) c.2654G>C (p.Gly885Ala) c.2627G>C (p.Gly876Ala) c.2573G>C (p.Gly858Ala) c.2546G>C (p.Gly849Ala) c.2531G>C (p.Gly844Ala) c.2138G>C (p.Gly713Ala) c.2600G>C (p.Gly867Ala) c.2537G>C (p.Gly846Ala) c.2534G>C (p.Gly845Ala) c.2492G>C (p.Gly831Ala) c.1565G>C (p.Gly522Ala)
20	g.63406714C>T	CA409636586	KCNQ2	c.2603G>A (p.Gly868Glu) c.2549G>A (p.Gly850Glu) c.1946G>A (p.Gly649Glu) c.2456G>A (p.Gly819Glu) c.2117G>A (p.Gly706Glu) c.2465G>A (p.Gly822Glu) c.2241+332G>A (n.2241+332G>A) c.2205+332G>A (n.2205+332G>A) c.2495G>A (p.Gly832Glu) c.2133+332G>A (n.2133+332G>A) c.1680-5871G>A (n.1680-5871G>A) c.2591G>A (p.Gly864Glu) c.2657G>A (p.Gly886Glu) c.2654G>A (p.Gly885Glu) c.2627G>A (p.Gly876Glu) c.2573G>A (p.Gly858Glu) c.2546G>A (p.Gly849Glu) c.2531G>A (p.Gly844Glu) c.2138G>A (p.Gly713Glu) c.2600G>A (p.Gly867Glu) c.2537G>A (p.Gly846Glu) c.2534G>A (p.Gly845Glu) c.2492G>A (p.Gly831Glu) c.1565G>A (p.Gly522Glu)
20	g.63406715C>A	CA409636592	KCNQ2	c.2602G>T (p.Gly868Trp) c.2548G>T (p.Gly850Trp) c.1945G>T (p.Gly649Trp) c.2455G>T (p.Gly819Trp) c.2116G>T (p.Gly706Trp) c.2464G>T (p.Gly822Trp) c.2241+331G>T (n.2241+331G>T) c.2205+331G>T (n.2205+331G>T) c.2494G>T (p.Gly832Trp) c.2133+331G>T (n.2133+331G>T) c.1680-5872G>T (n.1680-5872G>T) c.2590G>T (p.Gly864Trp) c.2656G>T (p.Gly886Trp) c.2653G>T (p.Gly885Trp) c.2626G>T (p.Gly876Trp) c.2572G>T (p.Gly858Trp) c.2545G>T (p.Gly849Trp) c.2530G>T (p.Gly844Trp) c.2137G>T (p.Gly713Trp) c.2599G>T (p.Gly867Trp) c.2536G>T (p.Gly846Trp) c.2533G>T (p.Gly845Trp) c.2491G>T (p.Gly831Trp) c.1564G>T (p.Gly522Trp)
20	g.63406715C=	CA2374774214	KCNQ2	c.2602G= (p.Gly868=) c.2548G= (p.Gly850=) c.1945G= (p.Gly649=) c.2455G= (p.Gly819=) c.2116G= (p.Gly706=) c.2464G= (p.Gly822=) c.2241+331G= (n.2241+331G=) c.2205+331G= (n.2205+331G=) c.2494G= (p.Gly832=) c.2133+331G= (n.2133+331G=) c.1680-5872G= (n.1680-5872G=) c.2590G= (p.Gly864=) c.2656G= (p.Gly886=) c.2653G= (p.Gly885=) c.2626G= (p.Gly876=) c.2572G= (p.Gly858=) c.2545G= (p.Gly849=) c.2530G= (p.Gly844=) c.2137G= (p.Gly713=) c.2599G= (p.Gly867=) c.2536G= (p.Gly846=) c.2533G= (p.Gly845=) c.2491G= (p.Gly831=) c.1564G= (p.Gly522=)
20	g.63406715C>G	CA409636594	KCNQ2	c.2602G>C (p.Gly868Arg) c.2548G>C (p.Gly850Arg) c.1945G>C (p.Gly649Arg) c.2455G>C (p.Gly819Arg) c.2116G>C (p.Gly706Arg) c.2464G>C (p.Gly822Arg) c.2241+331G>C (n.2241+331G>C) c.2205+331G>C (n.2205+331G>C) c.2494G>C (p.Gly832Arg) c.2133+331G>C (n.2133+331G>C) c.1680-5872G>C (n.1680-5872G>C) c.2590G>C (p.Gly864Arg) c.2656G>C (p.Gly886Arg) c.2653G>C (p.Gly885Arg) c.2626G>C (p.Gly876Arg) c.2572G>C (p.Gly858Arg) c.2545G>C (p.Gly849Arg) c.2530G>C (p.Gly844Arg) c.2137G>C (p.Gly713Arg) c.2599G>C (p.Gly867Arg) c.2536G>C (p.Gly846Arg) c.2533G>C (p.Gly845Arg) c.2491G>C (p.Gly831Arg) c.1564G>C (p.Gly522Arg)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406715C>T	CA9958059	KCNQ2	c.2602G>A (p.Gly868Arg) c.2548G>A (p.Gly850Arg) c.1945G>A (p.Gly649Arg) c.2455G>A (p.Gly819Arg) c.2116G>A (p.Gly706Arg) c.2464G>A (p.Gly822Arg) c.2241+331G>A (n.2241+331G>A) c.2205+331G>A (n.2205+331G>A) c.2494G>A (p.Gly832Arg) c.2133+331G>A (n.2133+331G>A) c.1680-5872G>A (n.1680-5872G>A) c.2590G>A (p.Gly864Arg) c.2656G>A (p.Gly886Arg) c.2653G>A (p.Gly885Arg) c.2626G>A (p.Gly876Arg) c.2572G>A (p.Gly858Arg) c.2545G>A (p.Gly849Arg) c.2530G>A (p.Gly844Arg) c.2137G>A (p.Gly713Arg) c.2599G>A (p.Gly867Arg) c.2536G>A (p.Gly846Arg) c.2533G>A (p.Gly845Arg) c.2491G>A (p.Gly831Arg) c.1564G>A (p.Gly522Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406716G>A	CA9958060	KCNQ2	c.2601C>T (p.Cys867=) c.2547C>T (p.Cys849=) c.1944C>T (p.Cys648=) c.2454C>T (p.Cys818=) c.2115C>T (p.Cys705=) c.2463C>T (p.Cys821=) c.2241+330C>T (n.2241+330C>T) c.2205+330C>T (n.2205+330C>T) c.2493C>T (p.Cys831=) c.2133+330C>T (n.2133+330C>T) c.1680-5873C>T (n.1680-5873C>T) c.2589C>T (p.Cys863=) c.2655C>T (p.Cys885=) c.2652C>T (p.Cys884=) c.2625C>T (p.Cys875=) c.2571C>T (p.Cys857=) c.2544C>T (p.Cys848=) c.2529C>T (p.Cys843=) c.2136C>T (p.Cys712=) c.2598C>T (p.Cys866=) c.2535C>T (p.Cys845=) c.2532C>T (p.Cys844=) c.2490C>T (p.Cys830=) c.1563C>T (p.Cys521=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406716G>C	CA409636598	KCNQ2	c.2601C>G (p.Cys867Trp) c.2547C>G (p.Cys849Trp) c.1944C>G (p.Cys648Trp) c.2454C>G (p.Cys818Trp) c.2115C>G (p.Cys705Trp) c.2463C>G (p.Cys821Trp) c.2241+330C>G (n.2241+330C>G) c.2205+330C>G (n.2205+330C>G) c.2493C>G (p.Cys831Trp) c.2133+330C>G (n.2133+330C>G) c.1680-5873C>G (n.1680-5873C>G) c.2589C>G (p.Cys863Trp) c.2655C>G (p.Cys885Trp) c.2652C>G (p.Cys884Trp) c.2625C>G (p.Cys875Trp) c.2571C>G (p.Cys857Trp) c.2544C>G (p.Cys848Trp) c.2529C>G (p.Cys843Trp) c.2136C>G (p.Cys712Trp) c.2598C>G (p.Cys866Trp) c.2535C>G (p.Cys845Trp) c.2532C>G (p.Cys844Trp) c.2490C>G (p.Cys830Trp) c.1563C>G (p.Cys521Trp)	dbSNP gnomAD v2 gnomAD v4
20	g.63406716G=	CA2374774215	KCNQ2	c.2601C= (p.Cys867=) c.2547C= (p.Cys849=) c.1944C= (p.Cys648=) c.2454C= (p.Cys818=) c.2115C= (p.Cys705=) c.2463C= (p.Cys821=) c.2241+330C= (n.2241+330C=) c.2205+330C= (n.2205+330C=) c.2493C= (p.Cys831=) c.2133+330C= (n.2133+330C=) c.1680-5873C= (n.1680-5873C=) c.2589C= (p.Cys863=) c.2655C= (p.Cys885=) c.2652C= (p.Cys884=) c.2625C= (p.Cys875=) c.2571C= (p.Cys857=) c.2544C= (p.Cys848=) c.2529C= (p.Cys843=) c.2136C= (p.Cys712=) c.2598C= (p.Cys866=) c.2535C= (p.Cys845=) c.2532C= (p.Cys844=) c.2490C= (p.Cys830=) c.1563C= (p.Cys521=)
20	g.63406716G>T	CA409636600	KCNQ2	c.2601C>A (p.Cys867Ter) c.2547C>A (p.Cys849Ter) c.1944C>A (p.Cys648Ter) c.2454C>A (p.Cys818Ter) c.2115C>A (p.Cys705Ter) c.2463C>A (p.Cys821Ter) c.2241+330C>A (n.2241+330C>A) c.2205+330C>A (n.2205+330C>A) c.2493C>A (p.Cys831Ter) c.2133+330C>A (n.2133+330C>A) c.1680-5873C>A (n.1680-5873C>A) c.2589C>A (p.Cys863Ter) c.2655C>A (p.Cys885Ter) c.2652C>A (p.Cys884Ter) c.2625C>A (p.Cys875Ter) c.2571C>A (p.Cys857Ter) c.2544C>A (p.Cys848Ter) c.2529C>A (p.Cys843Ter) c.2136C>A (p.Cys712Ter) c.2598C>A (p.Cys866Ter) c.2535C>A (p.Cys845Ter) c.2532C>A (p.Cys844Ter) c.2490C>A (p.Cys830Ter) c.1563C>A (p.Cys521Ter)	gnomAD v4
20	g.63406717C>A	CA9958061	KCNQ2	c.2600G>T (p.Cys867Phe) c.2546G>T (p.Cys849Phe) c.1943G>T (p.Cys648Phe) c.2453G>T (p.Cys818Phe) c.2114G>T (p.Cys705Phe) c.2462G>T (p.Cys821Phe) c.2241+329G>T (n.2241+329G>T) c.2205+329G>T (n.2205+329G>T) c.2492G>T (p.Cys831Phe) c.2133+329G>T (n.2133+329G>T) c.1680-5874G>T (n.1680-5874G>T) c.2588G>T (p.Cys863Phe) c.2654G>T (p.Cys885Phe) c.2651G>T (p.Cys884Phe) c.2624G>T (p.Cys875Phe) c.2570G>T (p.Cys857Phe) c.2543G>T (p.Cys848Phe) c.2528G>T (p.Cys843Phe) c.2135G>T (p.Cys712Phe) c.2597G>T (p.Cys866Phe) c.2534G>T (p.Cys845Phe) c.2531G>T (p.Cys844Phe) c.2489G>T (p.Cys830Phe) c.1562G>T (p.Cys521Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63406717C=	CA2374774216	KCNQ2	c.2600G= (p.Cys867=) c.2546G= (p.Cys849=) c.1943G= (p.Cys648=) c.2453G= (p.Cys818=) c.2114G= (p.Cys705=) c.2462G= (p.Cys821=) c.2241+329G= (n.2241+329G=) c.2205+329G= (n.2205+329G=) c.2492G= (p.Cys831=) c.2133+329G= (n.2133+329G=) c.1680-5874G= (n.1680-5874G=) c.2588G= (p.Cys863=) c.2654G= (p.Cys885=) c.2651G= (p.Cys884=) c.2624G= (p.Cys875=) c.2570G= (p.Cys857=) c.2543G= (p.Cys848=) c.2528G= (p.Cys843=) c.2135G= (p.Cys712=) c.2597G= (p.Cys866=) c.2534G= (p.Cys845=) c.2531G= (p.Cys844=) c.2489G= (p.Cys830=) c.1562G= (p.Cys521=)
20	g.63406717C>G	CA409636605	KCNQ2	c.2600G>C (p.Cys867Ser) c.2546G>C (p.Cys849Ser) c.1943G>C (p.Cys648Ser) c.2453G>C (p.Cys818Ser) c.2114G>C (p.Cys705Ser) c.2462G>C (p.Cys821Ser) c.2241+329G>C (n.2241+329G>C) c.2205+329G>C (n.2205+329G>C) c.2492G>C (p.Cys831Ser) c.2133+329G>C (n.2133+329G>C) c.1680-5874G>C (n.1680-5874G>C) c.2588G>C (p.Cys863Ser) c.2654G>C (p.Cys885Ser) c.2651G>C (p.Cys884Ser) c.2624G>C (p.Cys875Ser) c.2570G>C (p.Cys857Ser) c.2543G>C (p.Cys848Ser) c.2528G>C (p.Cys843Ser) c.2135G>C (p.Cys712Ser) c.2597G>C (p.Cys866Ser) c.2534G>C (p.Cys845Ser) c.2531G>C (p.Cys844Ser) c.2489G>C (p.Cys830Ser) c.1562G>C (p.Cys521Ser)
20	g.63406717C>T	CA409636603	KCNQ2	c.2600G>A (p.Cys867Tyr) c.2546G>A (p.Cys849Tyr) c.1943G>A (p.Cys648Tyr) c.2453G>A (p.Cys818Tyr) c.2114G>A (p.Cys705Tyr) c.2462G>A (p.Cys821Tyr) c.2241+329G>A (n.2241+329G>A) c.2205+329G>A (n.2205+329G>A) c.2492G>A (p.Cys831Tyr) c.2133+329G>A (n.2133+329G>A) c.1680-5874G>A (n.1680-5874G>A) c.2588G>A (p.Cys863Tyr) c.2654G>A (p.Cys885Tyr) c.2651G>A (p.Cys884Tyr) c.2624G>A (p.Cys875Tyr) c.2570G>A (p.Cys857Tyr) c.2543G>A (p.Cys848Tyr) c.2528G>A (p.Cys843Tyr) c.2135G>A (p.Cys712Tyr) c.2597G>A (p.Cys866Tyr) c.2534G>A (p.Cys845Tyr) c.2531G>A (p.Cys844Tyr) c.2489G>A (p.Cys830Tyr) c.1562G>A (p.Cys521Tyr)

Number of alleles fetched