Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
9	g.135764985G>A	CA5326745	KCNT1	c.1036-46G>A (n.1036-46G>A) c.877-46G>A (n.877-46G>A) c.784-46G>A (n.784-46G>A) c.793-46G>A (n.793-46G>A) c.937-46G>A (n.937-46G>A) c.646-46G>A (n.646-46G>A) c.919-46G>A (n.919-46G>A) c.979-46G>A (n.979-46G>A) n.855-46G>A c.901-46G>A (n.901-46G>A) c.1171-46G>A (n.1171-46G>A) c.1180-46G>A (n.1180-46G>A) c.526-46G>A (n.526-46G>A) c.970-46G>A (n.970-46G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135764985G=	CA1883866252	KCNT1	c.1036-46G= (n.1036-46G=) c.877-46G= (n.877-46G=) c.784-46G= (n.784-46G=) c.793-46G= (n.793-46G=) c.937-46G= (n.937-46G=) c.646-46G= (n.646-46G=) c.919-46G= (n.919-46G=) c.979-46G= (n.979-46G=) n.855-46G= c.901-46G= (n.901-46G=) c.1171-46G= (n.1171-46G=) c.1180-46G= (n.1180-46G=) c.526-46G= (n.526-46G=) c.970-46G= (n.970-46G=)
9	g.135764985G>T	CA201465036	KCNT1	c.1036-46G>T (n.1036-46G>T) c.877-46G>T (n.877-46G>T) c.784-46G>T (n.784-46G>T) c.793-46G>T (n.793-46G>T) c.937-46G>T (n.937-46G>T) c.646-46G>T (n.646-46G>T) c.919-46G>T (n.919-46G>T) c.979-46G>T (n.979-46G>T) n.855-46G>T c.901-46G>T (n.901-46G>T) c.1171-46G>T (n.1171-46G>T) c.1180-46G>T (n.1180-46G>T) c.526-46G>T (n.526-46G>T) c.970-46G>T (n.970-46G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.135764986C>A	CA591364858	KCNT1	c.1036-45C>A (n.1036-45C>A) c.877-45C>A (n.877-45C>A) c.784-45C>A (n.784-45C>A) c.793-45C>A (n.793-45C>A) c.937-45C>A (n.937-45C>A) c.646-45C>A (n.646-45C>A) c.919-45C>A (n.919-45C>A) c.979-45C>A (n.979-45C>A) n.855-45C>A c.901-45C>A (n.901-45C>A) c.1171-45C>A (n.1171-45C>A) c.1180-45C>A (n.1180-45C>A) c.526-45C>A (n.526-45C>A) c.970-45C>A (n.970-45C>A)	dbSNP gnomAD v2 gnomAD v4
9	g.135764986C=	CA1883866253	KCNT1	c.1036-45C= (n.1036-45C=) c.877-45C= (n.877-45C=) c.784-45C= (n.784-45C=) c.793-45C= (n.793-45C=) c.937-45C= (n.937-45C=) c.646-45C= (n.646-45C=) c.919-45C= (n.919-45C=) c.979-45C= (n.979-45C=) n.855-45C= c.901-45C= (n.901-45C=) c.1171-45C= (n.1171-45C=) c.1180-45C= (n.1180-45C=) c.526-45C= (n.526-45C=) c.970-45C= (n.970-45C=)
9	g.135764986C>T	CA2786247466	KCNT1	c.1036-45C>T (n.1036-45C>T) c.877-45C>T (n.877-45C>T) c.784-45C>T (n.784-45C>T) c.793-45C>T (n.793-45C>T) c.937-45C>T (n.937-45C>T) c.646-45C>T (n.646-45C>T) c.919-45C>T (n.919-45C>T) c.979-45C>T (n.979-45C>T) n.855-45C>T c.901-45C>T (n.901-45C>T) c.1171-45C>T (n.1171-45C>T) c.1180-45C>T (n.1180-45C>T) c.526-45C>T (n.526-45C>T) c.970-45C>T (n.970-45C>T)
9	g.135764988C>A	CA2692516021	KCNT1	c.1036-43C>A (n.1036-43C>A) c.877-43C>A (n.877-43C>A) c.784-43C>A (n.784-43C>A) c.793-43C>A (n.793-43C>A) c.937-43C>A (n.937-43C>A) c.646-43C>A (n.646-43C>A) c.919-43C>A (n.919-43C>A) c.979-43C>A (n.979-43C>A) n.855-43C>A c.901-43C>A (n.901-43C>A) c.1171-43C>A (n.1171-43C>A) c.1180-43C>A (n.1180-43C>A) c.526-43C>A (n.526-43C>A) c.970-43C>A (n.970-43C>A)	gnomAD v4
9	g.135764988C>G	CA2692516019	KCNT1	c.1036-43C>G (n.1036-43C>G) c.877-43C>G (n.877-43C>G) c.784-43C>G (n.784-43C>G) c.793-43C>G (n.793-43C>G) c.937-43C>G (n.937-43C>G) c.646-43C>G (n.646-43C>G) c.919-43C>G (n.919-43C>G) c.979-43C>G (n.979-43C>G) n.855-43C>G c.901-43C>G (n.901-43C>G) c.1171-43C>G (n.1171-43C>G) c.1180-43C>G (n.1180-43C>G) c.526-43C>G (n.526-43C>G) c.970-43C>G (n.970-43C>G)	gnomAD v4
9	g.135764989C>A	CA2692516022	KCNT1	c.1036-42C>A (n.1036-42C>A) c.877-42C>A (n.877-42C>A) c.784-42C>A (n.784-42C>A) c.793-42C>A (n.793-42C>A) c.937-42C>A (n.937-42C>A) c.646-42C>A (n.646-42C>A) c.919-42C>A (n.919-42C>A) c.979-42C>A (n.979-42C>A) n.855-42C>A c.901-42C>A (n.901-42C>A) c.1171-42C>A (n.1171-42C>A) c.1180-42C>A (n.1180-42C>A) c.526-42C>A (n.526-42C>A) c.970-42C>A (n.970-42C>A)	gnomAD v4
9	g.135764990C>A	CA2692516024	KCNT1	c.1036-41C>A (n.1036-41C>A) c.877-41C>A (n.877-41C>A) c.784-41C>A (n.784-41C>A) c.793-41C>A (n.793-41C>A) c.937-41C>A (n.937-41C>A) c.646-41C>A (n.646-41C>A) c.919-41C>A (n.919-41C>A) c.979-41C>A (n.979-41C>A) n.855-41C>A c.901-41C>A (n.901-41C>A) c.1171-41C>A (n.1171-41C>A) c.1180-41C>A (n.1180-41C>A) c.526-41C>A (n.526-41C>A) c.970-41C>A (n.970-41C>A)	gnomAD v4
9	g.135764991C>A	CA2692516028	KCNT1	c.1036-40C>A (n.1036-40C>A) c.877-40C>A (n.877-40C>A) c.784-40C>A (n.784-40C>A) c.793-40C>A (n.793-40C>A) c.937-40C>A (n.937-40C>A) c.646-40C>A (n.646-40C>A) c.919-40C>A (n.919-40C>A) c.979-40C>A (n.979-40C>A) n.855-40C>A c.901-40C>A (n.901-40C>A) c.1171-40C>A (n.1171-40C>A) c.1180-40C>A (n.1180-40C>A) c.526-40C>A (n.526-40C>A) c.970-40C>A (n.970-40C>A)	gnomAD v4
9	g.135764991C=	CA1883866254	KCNT1	c.1036-40C= (n.1036-40C=) c.877-40C= (n.877-40C=) c.784-40C= (n.784-40C=) c.793-40C= (n.793-40C=) c.937-40C= (n.937-40C=) c.646-40C= (n.646-40C=) c.919-40C= (n.919-40C=) c.979-40C= (n.979-40C=) n.855-40C= c.901-40C= (n.901-40C=) c.1171-40C= (n.1171-40C=) c.1180-40C= (n.1180-40C=) c.526-40C= (n.526-40C=) c.970-40C= (n.970-40C=)
9	g.135764991C>T	CA5326746	KCNT1	c.1036-40C>T (n.1036-40C>T) c.877-40C>T (n.877-40C>T) c.784-40C>T (n.784-40C>T) c.793-40C>T (n.793-40C>T) c.937-40C>T (n.937-40C>T) c.646-40C>T (n.646-40C>T) c.919-40C>T (n.919-40C>T) c.979-40C>T (n.979-40C>T) n.855-40C>T c.901-40C>T (n.901-40C>T) c.1171-40C>T (n.1171-40C>T) c.1180-40C>T (n.1180-40C>T) c.526-40C>T (n.526-40C>T) c.970-40C>T (n.970-40C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135764992A=	CA1883866255	KCNT1	c.1036-39A= (n.1036-39A=) c.877-39A= (n.877-39A=) c.784-39A= (n.784-39A=) c.793-39A= (n.793-39A=) c.937-39A= (n.937-39A=) c.646-39A= (n.646-39A=) c.919-39A= (n.919-39A=) c.979-39A= (n.979-39A=) n.855-39A= c.901-39A= (n.901-39A=) c.1171-39A= (n.1171-39A=) c.1180-39A= (n.1180-39A=) c.526-39A= (n.526-39A=) c.970-39A= (n.970-39A=)
9	g.135764992A>C	CA2580906618	KCNT1	c.1036-39A>C (n.1036-39A>C) c.877-39A>C (n.877-39A>C) c.784-39A>C (n.784-39A>C) c.793-39A>C (n.793-39A>C) c.937-39A>C (n.937-39A>C) c.646-39A>C (n.646-39A>C) c.919-39A>C (n.919-39A>C) c.979-39A>C (n.979-39A>C) n.855-39A>C c.901-39A>C (n.901-39A>C) c.1171-39A>C (n.1171-39A>C) c.1180-39A>C (n.1180-39A>C) c.526-39A>C (n.526-39A>C) c.970-39A>C (n.970-39A>C)
9	g.135764992A>G	CA5326747	KCNT1	c.1036-39A>G (n.1036-39A>G) c.877-39A>G (n.877-39A>G) c.784-39A>G (n.784-39A>G) c.793-39A>G (n.793-39A>G) c.937-39A>G (n.937-39A>G) c.646-39A>G (n.646-39A>G) c.919-39A>G (n.919-39A>G) c.979-39A>G (n.979-39A>G) n.855-39A>G c.901-39A>G (n.901-39A>G) c.1171-39A>G (n.1171-39A>G) c.1180-39A>G (n.1180-39A>G) c.526-39A>G (n.526-39A>G) c.970-39A>G (n.970-39A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135764992A>T	CA201465055	KCNT1	c.1036-39A>T (n.1036-39A>T) c.877-39A>T (n.877-39A>T) c.784-39A>T (n.784-39A>T) c.793-39A>T (n.793-39A>T) c.937-39A>T (n.937-39A>T) c.646-39A>T (n.646-39A>T) c.919-39A>T (n.919-39A>T) c.979-39A>T (n.979-39A>T) n.855-39A>T c.901-39A>T (n.901-39A>T) c.1171-39A>T (n.1171-39A>T) c.1180-39A>T (n.1180-39A>T) c.526-39A>T (n.526-39A>T) c.970-39A>T (n.970-39A>T)	dbSNP
9	g.135764993G>C	CA5326748	KCNT1	c.1036-38G>C (n.1036-38G>C) c.877-38G>C (n.877-38G>C) c.784-38G>C (n.784-38G>C) c.793-38G>C (n.793-38G>C) c.937-38G>C (n.937-38G>C) c.646-38G>C (n.646-38G>C) c.919-38G>C (n.919-38G>C) c.979-38G>C (n.979-38G>C) n.855-38G>C c.901-38G>C (n.901-38G>C) c.1171-38G>C (n.1171-38G>C) c.1180-38G>C (n.1180-38G>C) c.526-38G>C (n.526-38G>C) c.970-38G>C (n.970-38G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135764993G=	CA1883866256	KCNT1	c.1036-38G= (n.1036-38G=) c.877-38G= (n.877-38G=) c.784-38G= (n.784-38G=) c.793-38G= (n.793-38G=) c.937-38G= (n.937-38G=) c.646-38G= (n.646-38G=) c.919-38G= (n.919-38G=) c.979-38G= (n.979-38G=) n.855-38G= c.901-38G= (n.901-38G=) c.1171-38G= (n.1171-38G=) c.1180-38G= (n.1180-38G=) c.526-38G= (n.526-38G=) c.970-38G= (n.970-38G=)
9	g.135764993G>T	CA2692516033	KCNT1	c.1036-38G>T (n.1036-38G>T) c.877-38G>T (n.877-38G>T) c.784-38G>T (n.784-38G>T) c.793-38G>T (n.793-38G>T) c.937-38G>T (n.937-38G>T) c.646-38G>T (n.646-38G>T) c.919-38G>T (n.919-38G>T) c.979-38G>T (n.979-38G>T) n.855-38G>T c.901-38G>T (n.901-38G>T) c.1171-38G>T (n.1171-38G>T) c.1180-38G>T (n.1180-38G>T) c.526-38G>T (n.526-38G>T) c.970-38G>T (n.970-38G>T)	gnomAD v4
9	g.135764994G>A	CA591364859	KCNT1	c.1036-37G>A (n.1036-37G>A) c.877-37G>A (n.877-37G>A) c.784-37G>A (n.784-37G>A) c.793-37G>A (n.793-37G>A) c.937-37G>A (n.937-37G>A) c.646-37G>A (n.646-37G>A) c.919-37G>A (n.919-37G>A) c.979-37G>A (n.979-37G>A) n.855-37G>A c.901-37G>A (n.901-37G>A) c.1171-37G>A (n.1171-37G>A) c.1180-37G>A (n.1180-37G>A) c.526-37G>A (n.526-37G>A) c.970-37G>A (n.970-37G>A)	dbSNP gnomAD v2 gnomAD v4
9	g.135764994G=	CA1883866257	KCNT1	c.1036-37G= (n.1036-37G=) c.877-37G= (n.877-37G=) c.784-37G= (n.784-37G=) c.793-37G= (n.793-37G=) c.937-37G= (n.937-37G=) c.646-37G= (n.646-37G=) c.919-37G= (n.919-37G=) c.979-37G= (n.979-37G=) n.855-37G= c.901-37G= (n.901-37G=) c.1171-37G= (n.1171-37G=) c.1180-37G= (n.1180-37G=) c.526-37G= (n.526-37G=) c.970-37G= (n.970-37G=)
9	g.135764994G>T	CA5326749	KCNT1	c.1036-37G>T (n.1036-37G>T) c.877-37G>T (n.877-37G>T) c.784-37G>T (n.784-37G>T) c.793-37G>T (n.793-37G>T) c.937-37G>T (n.937-37G>T) c.646-37G>T (n.646-37G>T) c.919-37G>T (n.919-37G>T) c.979-37G>T (n.979-37G>T) n.855-37G>T c.901-37G>T (n.901-37G>T) c.1171-37G>T (n.1171-37G>T) c.1180-37G>T (n.1180-37G>T) c.526-37G>T (n.526-37G>T) c.970-37G>T (n.970-37G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135764995C>A	CA2692516036	KCNT1	c.1036-36C>A (n.1036-36C>A) c.877-36C>A (n.877-36C>A) c.784-36C>A (n.784-36C>A) c.793-36C>A (n.793-36C>A) c.937-36C>A (n.937-36C>A) c.646-36C>A (n.646-36C>A) c.919-36C>A (n.919-36C>A) c.979-36C>A (n.979-36C>A) n.855-36C>A c.901-36C>A (n.901-36C>A) c.1171-36C>A (n.1171-36C>A) c.1180-36C>A (n.1180-36C>A) c.526-36C>A (n.526-36C>A) c.970-36C>A (n.970-36C>A)	gnomAD v4
9	g.135764995C>T	CA2692516037	KCNT1	c.1036-36C>T (n.1036-36C>T) c.877-36C>T (n.877-36C>T) c.784-36C>T (n.784-36C>T) c.793-36C>T (n.793-36C>T) c.937-36C>T (n.937-36C>T) c.646-36C>T (n.646-36C>T) c.919-36C>T (n.919-36C>T) c.979-36C>T (n.979-36C>T) n.855-36C>T c.901-36C>T (n.901-36C>T) c.1171-36C>T (n.1171-36C>T) c.1180-36C>T (n.1180-36C>T) c.526-36C>T (n.526-36C>T) c.970-36C>T (n.970-36C>T)	gnomAD v4
9	g.135764996C>A	CA591364860	KCNT1	c.1036-35C>A (n.1036-35C>A) c.877-35C>A (n.877-35C>A) c.784-35C>A (n.784-35C>A) c.793-35C>A (n.793-35C>A) c.937-35C>A (n.937-35C>A) c.646-35C>A (n.646-35C>A) c.919-35C>A (n.919-35C>A) c.979-35C>A (n.979-35C>A) n.855-35C>A c.901-35C>A (n.901-35C>A) c.1171-35C>A (n.1171-35C>A) c.1180-35C>A (n.1180-35C>A) c.526-35C>A (n.526-35C>A) c.970-35C>A (n.970-35C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.135764996C=	CA1883866258	KCNT1	c.1036-35C= (n.1036-35C=) c.877-35C= (n.877-35C=) c.784-35C= (n.784-35C=) c.793-35C= (n.793-35C=) c.937-35C= (n.937-35C=) c.646-35C= (n.646-35C=) c.919-35C= (n.919-35C=) c.979-35C= (n.979-35C=) n.855-35C= c.901-35C= (n.901-35C=) c.1171-35C= (n.1171-35C=) c.1180-35C= (n.1180-35C=) c.526-35C= (n.526-35C=) c.970-35C= (n.970-35C=)
9	g.135764997T>C	CA860982600	KCNT1	c.1036-34T>C (n.1036-34T>C) c.877-34T>C (n.877-34T>C) c.784-34T>C (n.784-34T>C) c.793-34T>C (n.793-34T>C) c.937-34T>C (n.937-34T>C) c.646-34T>C (n.646-34T>C) c.919-34T>C (n.919-34T>C) c.979-34T>C (n.979-34T>C) n.855-34T>C c.901-34T>C (n.901-34T>C) c.1171-34T>C (n.1171-34T>C) c.1180-34T>C (n.1180-34T>C) c.526-34T>C (n.526-34T>C) c.970-34T>C (n.970-34T>C)	dbSNP
9	g.135764997T=	CA1883866259	KCNT1	c.1036-34T= (n.1036-34T=) c.877-34T= (n.877-34T=) c.784-34T= (n.784-34T=) c.793-34T= (n.793-34T=) c.937-34T= (n.937-34T=) c.646-34T= (n.646-34T=) c.919-34T= (n.919-34T=) c.979-34T= (n.979-34T=) n.855-34T= c.901-34T= (n.901-34T=) c.1171-34T= (n.1171-34T=) c.1180-34T= (n.1180-34T=) c.526-34T= (n.526-34T=) c.970-34T= (n.970-34T=)
9	g.135764998G>A	CA2692516038	KCNT1	c.1036-33G>A (n.1036-33G>A) c.877-33G>A (n.877-33G>A) c.784-33G>A (n.784-33G>A) c.793-33G>A (n.793-33G>A) c.937-33G>A (n.937-33G>A) c.646-33G>A (n.646-33G>A) c.919-33G>A (n.919-33G>A) c.979-33G>A (n.979-33G>A) n.855-33G>A c.901-33G>A (n.901-33G>A) c.1171-33G>A (n.1171-33G>A) c.1180-33G>A (n.1180-33G>A) c.526-33G>A (n.526-33G>A) c.970-33G>A (n.970-33G>A)	gnomAD v4
9	g.135764998G>T	CA2692516039	KCNT1	c.1036-33G>T (n.1036-33G>T) c.877-33G>T (n.877-33G>T) c.784-33G>T (n.784-33G>T) c.793-33G>T (n.793-33G>T) c.937-33G>T (n.937-33G>T) c.646-33G>T (n.646-33G>T) c.919-33G>T (n.919-33G>T) c.979-33G>T (n.979-33G>T) n.855-33G>T c.901-33G>T (n.901-33G>T) c.1171-33G>T (n.1171-33G>T) c.1180-33G>T (n.1180-33G>T) c.526-33G>T (n.526-33G>T) c.970-33G>T (n.970-33G>T)	gnomAD v4
9	g.135764999G>A	CA2692516040	KCNT1	c.1036-32G>A (n.1036-32G>A) c.877-32G>A (n.877-32G>A) c.784-32G>A (n.784-32G>A) c.793-32G>A (n.793-32G>A) c.937-32G>A (n.937-32G>A) c.646-32G>A (n.646-32G>A) c.919-32G>A (n.919-32G>A) c.979-32G>A (n.979-32G>A) n.855-32G>A c.901-32G>A (n.901-32G>A) c.1171-32G>A (n.1171-32G>A) c.1180-32G>A (n.1180-32G>A) c.526-32G>A (n.526-32G>A) c.970-32G>A (n.970-32G>A)	gnomAD v4
9	g.135765000T>C	CA860982603	KCNT1	c.1036-31T>C (n.1036-31T>C) c.877-31T>C (n.877-31T>C) c.784-31T>C (n.784-31T>C) c.793-31T>C (n.793-31T>C) c.937-31T>C (n.937-31T>C) c.646-31T>C (n.646-31T>C) c.919-31T>C (n.919-31T>C) c.979-31T>C (n.979-31T>C) n.855-31T>C c.901-31T>C (n.901-31T>C) c.1171-31T>C (n.1171-31T>C) c.1180-31T>C (n.1180-31T>C) c.526-31T>C (n.526-31T>C) c.970-31T>C (n.970-31T>C)	dbSNP gnomAD v3 gnomAD v4
9	g.135765000T=	CA1883866260	KCNT1	c.1036-31T= (n.1036-31T=) c.877-31T= (n.877-31T=) c.784-31T= (n.784-31T=) c.793-31T= (n.793-31T=) c.937-31T= (n.937-31T=) c.646-31T= (n.646-31T=) c.919-31T= (n.919-31T=) c.979-31T= (n.979-31T=) n.855-31T= c.901-31T= (n.901-31T=) c.1171-31T= (n.1171-31T=) c.1180-31T= (n.1180-31T=) c.526-31T= (n.526-31T=) c.970-31T= (n.970-31T=)
9	g.135765001C>A	CA591364861	KCNT1	c.1036-30C>A (n.1036-30C>A) c.877-30C>A (n.877-30C>A) c.784-30C>A (n.784-30C>A) c.793-30C>A (n.793-30C>A) c.937-30C>A (n.937-30C>A) c.646-30C>A (n.646-30C>A) c.919-30C>A (n.919-30C>A) c.979-30C>A (n.979-30C>A) n.855-30C>A c.901-30C>A (n.901-30C>A) c.1171-30C>A (n.1171-30C>A) c.1180-30C>A (n.1180-30C>A) c.526-30C>A (n.526-30C>A) c.970-30C>A (n.970-30C>A)	dbSNP gnomAD v2 gnomAD v4
9	g.135765001C=	CA1883866261	KCNT1	c.1036-30C= (n.1036-30C=) c.877-30C= (n.877-30C=) c.784-30C= (n.784-30C=) c.793-30C= (n.793-30C=) c.937-30C= (n.937-30C=) c.646-30C= (n.646-30C=) c.919-30C= (n.919-30C=) c.979-30C= (n.979-30C=) n.855-30C= c.901-30C= (n.901-30C=) c.1171-30C= (n.1171-30C=) c.1180-30C= (n.1180-30C=) c.526-30C= (n.526-30C=) c.970-30C= (n.970-30C=)
9	g.135765001C>T	CA5326750	KCNT1	c.1036-30C>T (n.1036-30C>T) c.877-30C>T (n.877-30C>T) c.784-30C>T (n.784-30C>T) c.793-30C>T (n.793-30C>T) c.937-30C>T (n.937-30C>T) c.646-30C>T (n.646-30C>T) c.919-30C>T (n.919-30C>T) c.979-30C>T (n.979-30C>T) n.855-30C>T c.901-30C>T (n.901-30C>T) c.1171-30C>T (n.1171-30C>T) c.1180-30C>T (n.1180-30C>T) c.526-30C>T (n.526-30C>T) c.970-30C>T (n.970-30C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9	g.135765002G>A	CA5326751	KCNT1	c.1036-29G>A (n.1036-29G>A) c.877-29G>A (n.877-29G>A) c.784-29G>A (n.784-29G>A) c.793-29G>A (n.793-29G>A) c.937-29G>A (n.937-29G>A) c.646-29G>A (n.646-29G>A) c.919-29G>A (n.919-29G>A) c.979-29G>A (n.979-29G>A) n.855-29G>A c.901-29G>A (n.901-29G>A) c.1171-29G>A (n.1171-29G>A) c.1180-29G>A (n.1180-29G>A) c.526-29G>A (n.526-29G>A) c.970-29G>A (n.970-29G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765002G=	CA1883866262	KCNT1	c.1036-29G= (n.1036-29G=) c.877-29G= (n.877-29G=) c.784-29G= (n.784-29G=) c.793-29G= (n.793-29G=) c.937-29G= (n.937-29G=) c.646-29G= (n.646-29G=) c.919-29G= (n.919-29G=) c.979-29G= (n.979-29G=) n.855-29G= c.901-29G= (n.901-29G=) c.1171-29G= (n.1171-29G=) c.1180-29G= (n.1180-29G=) c.526-29G= (n.526-29G=) c.970-29G= (n.970-29G=)
9	g.135765002G>T	CA2692516042	KCNT1	c.1036-29G>T (n.1036-29G>T) c.877-29G>T (n.877-29G>T) c.784-29G>T (n.784-29G>T) c.793-29G>T (n.793-29G>T) c.937-29G>T (n.937-29G>T) c.646-29G>T (n.646-29G>T) c.919-29G>T (n.919-29G>T) c.979-29G>T (n.979-29G>T) n.855-29G>T c.901-29G>T (n.901-29G>T) c.1171-29G>T (n.1171-29G>T) c.1180-29G>T (n.1180-29G>T) c.526-29G>T (n.526-29G>T) c.970-29G>T (n.970-29G>T)	gnomAD v4
9	g.135765003C>G	CA2579510776	KCNT1	c.1036-28C>G (n.1036-28C>G) c.877-28C>G (n.877-28C>G) c.784-28C>G (n.784-28C>G) c.793-28C>G (n.793-28C>G) c.937-28C>G (n.937-28C>G) c.646-28C>G (n.646-28C>G) c.919-28C>G (n.919-28C>G) c.979-28C>G (n.979-28C>G) n.855-28C>G c.901-28C>G (n.901-28C>G) c.1171-28C>G (n.1171-28C>G) c.1180-28C>G (n.1180-28C>G) c.526-28C>G (n.526-28C>G) c.970-28C>G (n.970-28C>G)
9	g.135765003C>T	CA2692516043	KCNT1	c.1036-28C>T (n.1036-28C>T) c.877-28C>T (n.877-28C>T) c.784-28C>T (n.784-28C>T) c.793-28C>T (n.793-28C>T) c.937-28C>T (n.937-28C>T) c.646-28C>T (n.646-28C>T) c.919-28C>T (n.919-28C>T) c.979-28C>T (n.979-28C>T) n.855-28C>T c.901-28C>T (n.901-28C>T) c.1171-28C>T (n.1171-28C>T) c.1180-28C>T (n.1180-28C>T) c.526-28C>T (n.526-28C>T) c.970-28C>T (n.970-28C>T)	gnomAD v4
9	g.135765005G>T	CA2692516044	KCNT1	c.1036-26G>T (n.1036-26G>T) c.877-26G>T (n.877-26G>T) c.784-26G>T (n.784-26G>T) c.793-26G>T (n.793-26G>T) c.937-26G>T (n.937-26G>T) c.646-26G>T (n.646-26G>T) c.919-26G>T (n.919-26G>T) c.979-26G>T (n.979-26G>T) n.855-26G>T c.901-26G>T (n.901-26G>T) c.1171-26G>T (n.1171-26G>T) c.1180-26G>T (n.1180-26G>T) c.526-26G>T (n.526-26G>T) c.970-26G>T (n.970-26G>T)	gnomAD v4
9	g.135765006G>A	CA2579510777	KCNT1	c.1036-25G>A (n.1036-25G>A) c.877-25G>A (n.877-25G>A) c.784-25G>A (n.784-25G>A) c.793-25G>A (n.793-25G>A) c.937-25G>A (n.937-25G>A) c.646-25G>A (n.646-25G>A) c.919-25G>A (n.919-25G>A) c.979-25G>A (n.979-25G>A) n.855-25G>A c.901-25G>A (n.901-25G>A) c.1171-25G>A (n.1171-25G>A) c.1180-25G>A (n.1180-25G>A) c.526-25G>A (n.526-25G>A) c.970-25G>A (n.970-25G>A)
9	g.135765007T>G	CA1883866264	KCNT1	c.1036-24T>G (n.1036-24T>G) c.877-24T>G (n.877-24T>G) c.784-24T>G (n.784-24T>G) c.793-24T>G (n.793-24T>G) c.937-24T>G (n.937-24T>G) c.646-24T>G (n.646-24T>G) c.919-24T>G (n.919-24T>G) c.979-24T>G (n.979-24T>G) n.855-24T>G c.901-24T>G (n.901-24T>G) c.1171-24T>G (n.1171-24T>G) c.1180-24T>G (n.1180-24T>G) c.526-24T>G (n.526-24T>G) c.970-24T>G (n.970-24T>G)	dbSNP
9	g.135765007T=	CA1883866263	KCNT1	c.1036-24T= (n.1036-24T=) c.877-24T= (n.877-24T=) c.784-24T= (n.784-24T=) c.793-24T= (n.793-24T=) c.937-24T= (n.937-24T=) c.646-24T= (n.646-24T=) c.919-24T= (n.919-24T=) c.979-24T= (n.979-24T=) n.855-24T= c.901-24T= (n.901-24T=) c.1171-24T= (n.1171-24T=) c.1180-24T= (n.1180-24T=) c.526-24T= (n.526-24T=) c.970-24T= (n.970-24T=)
9	g.135765007dup	CA2692516045	KCNT1	c.1036-24dup (n.1036-24dup) c.877-24dup (n.877-24dup) c.784-24dup (n.784-24dup) c.793-24dup (n.793-24dup) c.937-24dup (n.937-24dup) c.646-24dup (n.646-24dup) c.919-24dup (n.919-24dup) c.979-24dup (n.979-24dup) n.855-24dup c.901-24dup (n.901-24dup) c.1171-24dup (n.1171-24dup) c.1180-24dup (n.1180-24dup) c.526-24dup (n.526-24dup) c.970-24dup (n.970-24dup)	gnomAD v4
9	g.135765008G>A	CA5326752	KCNT1	c.1036-23G>A (n.1036-23G>A) c.877-23G>A (n.877-23G>A) c.784-23G>A (n.784-23G>A) c.793-23G>A (n.793-23G>A) c.937-23G>A (n.937-23G>A) c.646-23G>A (n.646-23G>A) c.919-23G>A (n.919-23G>A) c.979-23G>A (n.979-23G>A) n.855-23G>A c.901-23G>A (n.901-23G>A) c.1171-23G>A (n.1171-23G>A) c.1180-23G>A (n.1180-23G>A) c.526-23G>A (n.526-23G>A) c.970-23G>A (n.970-23G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
9	g.135765008G=	CA1883866265	KCNT1	c.1036-23G= (n.1036-23G=) c.877-23G= (n.877-23G=) c.784-23G= (n.784-23G=) c.793-23G= (n.793-23G=) c.937-23G= (n.937-23G=) c.646-23G= (n.646-23G=) c.919-23G= (n.919-23G=) c.979-23G= (n.979-23G=) n.855-23G= c.901-23G= (n.901-23G=) c.1171-23G= (n.1171-23G=) c.1180-23G= (n.1180-23G=) c.526-23G= (n.526-23G=) c.970-23G= (n.970-23G=)
9	g.135765008G>T	CA2692516046	KCNT1	c.1036-23G>T (n.1036-23G>T) c.877-23G>T (n.877-23G>T) c.784-23G>T (n.784-23G>T) c.793-23G>T (n.793-23G>T) c.937-23G>T (n.937-23G>T) c.646-23G>T (n.646-23G>T) c.919-23G>T (n.919-23G>T) c.979-23G>T (n.979-23G>T) n.855-23G>T c.901-23G>T (n.901-23G>T) c.1171-23G>T (n.1171-23G>T) c.1180-23G>T (n.1180-23G>T) c.526-23G>T (n.526-23G>T) c.970-23G>T (n.970-23G>T)	gnomAD v4
9	g.135765009C=	CA1883866266	KCNT1	c.1036-22C= (n.1036-22C=) c.877-22C= (n.877-22C=) c.784-22C= (n.784-22C=) c.793-22C= (n.793-22C=) c.937-22C= (n.937-22C=) c.646-22C= (n.646-22C=) c.919-22C= (n.919-22C=) c.979-22C= (n.979-22C=) n.855-22C= c.901-22C= (n.901-22C=) c.1171-22C= (n.1171-22C=) c.1180-22C= (n.1180-22C=) c.526-22C= (n.526-22C=) c.970-22C= (n.970-22C=)
9	g.135765009C>T	CA591364862	KCNT1	c.1036-22C>T (n.1036-22C>T) c.877-22C>T (n.877-22C>T) c.784-22C>T (n.784-22C>T) c.793-22C>T (n.793-22C>T) c.937-22C>T (n.937-22C>T) c.646-22C>T (n.646-22C>T) c.919-22C>T (n.919-22C>T) c.979-22C>T (n.979-22C>T) n.855-22C>T c.901-22C>T (n.901-22C>T) c.1171-22C>T (n.1171-22C>T) c.1180-22C>T (n.1180-22C>T) c.526-22C>T (n.526-22C>T) c.970-22C>T (n.970-22C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765010T>C	CA2692516048	KCNT1	c.1036-21T>C (n.1036-21T>C) c.877-21T>C (n.877-21T>C) c.784-21T>C (n.784-21T>C) c.793-21T>C (n.793-21T>C) c.937-21T>C (n.937-21T>C) c.646-21T>C (n.646-21T>C) c.919-21T>C (n.919-21T>C) c.979-21T>C (n.979-21T>C) n.855-21T>C c.901-21T>C (n.901-21T>C) c.1171-21T>C (n.1171-21T>C) c.1180-21T>C (n.1180-21T>C) c.526-21T>C (n.526-21T>C) c.970-21T>C (n.970-21T>C)	gnomAD v4
9	g.135765011C>A	CA2520179853	KCNT1	c.1036-20C>A (n.1036-20C>A) c.877-20C>A (n.877-20C>A) c.784-20C>A (n.784-20C>A) c.793-20C>A (n.793-20C>A) c.937-20C>A (n.937-20C>A) c.646-20C>A (n.646-20C>A) c.919-20C>A (n.919-20C>A) c.979-20C>A (n.979-20C>A) n.855-20C>A c.901-20C>A (n.901-20C>A) c.1171-20C>A (n.1171-20C>A) c.1180-20C>A (n.1180-20C>A) c.526-20C>A (n.526-20C>A) c.970-20C>A (n.970-20C>A)
9	g.135765011C=	CA1883866267	KCNT1	c.1036-20C= (n.1036-20C=) c.877-20C= (n.877-20C=) c.784-20C= (n.784-20C=) c.793-20C= (n.793-20C=) c.937-20C= (n.937-20C=) c.646-20C= (n.646-20C=) c.919-20C= (n.919-20C=) c.979-20C= (n.979-20C=) n.855-20C= c.901-20C= (n.901-20C=) c.1171-20C= (n.1171-20C=) c.1180-20C= (n.1180-20C=) c.526-20C= (n.526-20C=) c.970-20C= (n.970-20C=)
9	g.135765011C>T	CA1883866268	KCNT1	c.1036-20C>T (n.1036-20C>T) c.877-20C>T (n.877-20C>T) c.784-20C>T (n.784-20C>T) c.793-20C>T (n.793-20C>T) c.937-20C>T (n.937-20C>T) c.646-20C>T (n.646-20C>T) c.919-20C>T (n.919-20C>T) c.979-20C>T (n.979-20C>T) n.855-20C>T c.901-20C>T (n.901-20C>T) c.1171-20C>T (n.1171-20C>T) c.1180-20C>T (n.1180-20C>T) c.526-20C>T (n.526-20C>T) c.970-20C>T (n.970-20C>T)	dbSNP gnomAD v4
9	g.135765012A=	CA1883866269	KCNT1	c.1036-19A= (n.1036-19A=) c.877-19A= (n.877-19A=) c.784-19A= (n.784-19A=) c.793-19A= (n.793-19A=) c.937-19A= (n.937-19A=) c.646-19A= (n.646-19A=) c.919-19A= (n.919-19A=) c.979-19A= (n.979-19A=) n.855-19A= c.901-19A= (n.901-19A=) c.1171-19A= (n.1171-19A=) c.1180-19A= (n.1180-19A=) c.526-19A= (n.526-19A=) c.970-19A= (n.970-19A=)
9	g.135765012A>G	CA1883866270	KCNT1	c.1036-19A>G (n.1036-19A>G) c.877-19A>G (n.877-19A>G) c.784-19A>G (n.784-19A>G) c.793-19A>G (n.793-19A>G) c.937-19A>G (n.937-19A>G) c.646-19A>G (n.646-19A>G) c.919-19A>G (n.919-19A>G) c.979-19A>G (n.979-19A>G) n.855-19A>G c.901-19A>G (n.901-19A>G) c.1171-19A>G (n.1171-19A>G) c.1180-19A>G (n.1180-19A>G) c.526-19A>G (n.526-19A>G) c.970-19A>G (n.970-19A>G)	dbSNP
9	g.135765013C>A	CA2692516049	KCNT1	c.1036-18C>A (n.1036-18C>A) c.877-18C>A (n.877-18C>A) c.784-18C>A (n.784-18C>A) c.793-18C>A (n.793-18C>A) c.937-18C>A (n.937-18C>A) c.646-18C>A (n.646-18C>A) c.919-18C>A (n.919-18C>A) c.979-18C>A (n.979-18C>A) n.855-18C>A c.901-18C>A (n.901-18C>A) c.1171-18C>A (n.1171-18C>A) c.1180-18C>A (n.1180-18C>A) c.526-18C>A (n.526-18C>A) c.970-18C>A (n.970-18C>A)	gnomAD v4
9	g.135765013C>T	CA2692516050	KCNT1	c.1036-18C>T (n.1036-18C>T) c.877-18C>T (n.877-18C>T) c.784-18C>T (n.784-18C>T) c.793-18C>T (n.793-18C>T) c.937-18C>T (n.937-18C>T) c.646-18C>T (n.646-18C>T) c.919-18C>T (n.919-18C>T) c.979-18C>T (n.979-18C>T) n.855-18C>T c.901-18C>T (n.901-18C>T) c.1171-18C>T (n.1171-18C>T) c.1180-18C>T (n.1180-18C>T) c.526-18C>T (n.526-18C>T) c.970-18C>T (n.970-18C>T)	gnomAD v4
9	g.135765014C=	CA1883866271	KCNT1	c.1036-17C= (n.1036-17C=) c.877-17C= (n.877-17C=) c.784-17C= (n.784-17C=) c.793-17C= (n.793-17C=) c.937-17C= (n.937-17C=) c.646-17C= (n.646-17C=) c.919-17C= (n.919-17C=) c.979-17C= (n.979-17C=) n.855-17C= c.901-17C= (n.901-17C=) c.1171-17C= (n.1171-17C=) c.1180-17C= (n.1180-17C=) c.526-17C= (n.526-17C=) c.970-17C= (n.970-17C=)
9	g.135765014C>G	CA591364863	KCNT1	c.1036-17C>G (n.1036-17C>G) c.877-17C>G (n.877-17C>G) c.784-17C>G (n.784-17C>G) c.793-17C>G (n.793-17C>G) c.937-17C>G (n.937-17C>G) c.646-17C>G (n.646-17C>G) c.919-17C>G (n.919-17C>G) c.979-17C>G (n.979-17C>G) n.855-17C>G c.901-17C>G (n.901-17C>G) c.1171-17C>G (n.1171-17C>G) c.1180-17C>G (n.1180-17C>G) c.526-17C>G (n.526-17C>G) c.970-17C>G (n.970-17C>G)	dbSNP gnomAD v2 gnomAD v4
9	g.135765015T>C	CA860982612	KCNT1	c.1036-16T>C (n.1036-16T>C) c.877-16T>C (n.877-16T>C) c.784-16T>C (n.784-16T>C) c.793-16T>C (n.793-16T>C) c.937-16T>C (n.937-16T>C) c.646-16T>C (n.646-16T>C) c.919-16T>C (n.919-16T>C) c.979-16T>C (n.979-16T>C) n.855-16T>C c.901-16T>C (n.901-16T>C) c.1171-16T>C (n.1171-16T>C) c.1180-16T>C (n.1180-16T>C) c.526-16T>C (n.526-16T>C) c.970-16T>C (n.970-16T>C)	dbSNP gnomAD v4
9	g.135765015T=	CA1883866272	KCNT1	c.1036-16T= (n.1036-16T=) c.877-16T= (n.877-16T=) c.784-16T= (n.784-16T=) c.793-16T= (n.793-16T=) c.937-16T= (n.937-16T=) c.646-16T= (n.646-16T=) c.919-16T= (n.919-16T=) c.979-16T= (n.979-16T=) n.855-16T= c.901-16T= (n.901-16T=) c.1171-16T= (n.1171-16T=) c.1180-16T= (n.1180-16T=) c.526-16T= (n.526-16T=) c.970-16T= (n.970-16T=)
9	g.135765016G>A	CA5326753	KCNT1	c.1036-15G>A (n.1036-15G>A) c.877-15G>A (n.877-15G>A) c.784-15G>A (n.784-15G>A) c.793-15G>A (n.793-15G>A) c.937-15G>A (n.937-15G>A) c.646-15G>A (n.646-15G>A) c.919-15G>A (n.919-15G>A) c.979-15G>A (n.979-15G>A) n.855-15G>A c.901-15G>A (n.901-15G>A) c.1171-15G>A (n.1171-15G>A) c.1180-15G>A (n.1180-15G>A) c.526-15G>A (n.526-15G>A) c.970-15G>A (n.970-15G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765016G>C	CA2580906620	KCNT1	c.1036-15G>C (n.1036-15G>C) c.877-15G>C (n.877-15G>C) c.784-15G>C (n.784-15G>C) c.793-15G>C (n.793-15G>C) c.937-15G>C (n.937-15G>C) c.646-15G>C (n.646-15G>C) c.919-15G>C (n.919-15G>C) c.979-15G>C (n.979-15G>C) n.855-15G>C c.901-15G>C (n.901-15G>C) c.1171-15G>C (n.1171-15G>C) c.1180-15G>C (n.1180-15G>C) c.526-15G>C (n.526-15G>C) c.970-15G>C (n.970-15G>C)
9	g.135765016G=	CA1883866273	KCNT1	c.1036-15G= (n.1036-15G=) c.877-15G= (n.877-15G=) c.784-15G= (n.784-15G=) c.793-15G= (n.793-15G=) c.937-15G= (n.937-15G=) c.646-15G= (n.646-15G=) c.919-15G= (n.919-15G=) c.979-15G= (n.979-15G=) n.855-15G= c.901-15G= (n.901-15G=) c.1171-15G= (n.1171-15G=) c.1180-15G= (n.1180-15G=) c.526-15G= (n.526-15G=) c.970-15G= (n.970-15G=)
9	g.135765016G>T	CA2580906619	KCNT1	c.1036-15G>T (n.1036-15G>T) c.877-15G>T (n.877-15G>T) c.784-15G>T (n.784-15G>T) c.793-15G>T (n.793-15G>T) c.937-15G>T (n.937-15G>T) c.646-15G>T (n.646-15G>T) c.919-15G>T (n.919-15G>T) c.979-15G>T (n.979-15G>T) n.855-15G>T c.901-15G>T (n.901-15G>T) c.1171-15G>T (n.1171-15G>T) c.1180-15G>T (n.1180-15G>T) c.526-15G>T (n.526-15G>T) c.970-15G>T (n.970-15G>T)
9	g.135765019T>C	CA2692516056	KCNT1	c.1036-12T>C (n.1036-12T>C) c.877-12T>C (n.877-12T>C) c.784-12T>C (n.784-12T>C) c.793-12T>C (n.793-12T>C) c.937-12T>C (n.937-12T>C) c.646-12T>C (n.646-12T>C) c.919-12T>C (n.919-12T>C) c.979-12T>C (n.979-12T>C) n.855-12T>C c.901-12T>C (n.901-12T>C) c.1171-12T>C (n.1171-12T>C) c.1180-12T>C (n.1180-12T>C) c.526-12T>C (n.526-12T>C) c.970-12T>C (n.970-12T>C)	gnomAD v4
9	g.135765019T>G	CA5326754	KCNT1	c.1036-12T>G (n.1036-12T>G) c.877-12T>G (n.877-12T>G) c.784-12T>G (n.784-12T>G) c.793-12T>G (n.793-12T>G) c.937-12T>G (n.937-12T>G) c.646-12T>G (n.646-12T>G) c.919-12T>G (n.919-12T>G) c.979-12T>G (n.979-12T>G) n.855-12T>G c.901-12T>G (n.901-12T>G) c.1171-12T>G (n.1171-12T>G) c.1180-12T>G (n.1180-12T>G) c.526-12T>G (n.526-12T>G) c.970-12T>G (n.970-12T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765019T=	CA1883866274	KCNT1	c.1036-12T= (n.1036-12T=) c.877-12T= (n.877-12T=) c.784-12T= (n.784-12T=) c.793-12T= (n.793-12T=) c.937-12T= (n.937-12T=) c.646-12T= (n.646-12T=) c.919-12T= (n.919-12T=) c.979-12T= (n.979-12T=) n.855-12T= c.901-12T= (n.901-12T=) c.1171-12T= (n.1171-12T=) c.1180-12T= (n.1180-12T=) c.526-12T= (n.526-12T=) c.970-12T= (n.970-12T=)
9	g.135765020C>T	CA2692516058	KCNT1	c.1036-11C>T (n.1036-11C>T) c.877-11C>T (n.877-11C>T) c.784-11C>T (n.784-11C>T) c.793-11C>T (n.793-11C>T) c.937-11C>T (n.937-11C>T) c.646-11C>T (n.646-11C>T) c.919-11C>T (n.919-11C>T) c.979-11C>T (n.979-11C>T) n.855-11C>T c.901-11C>T (n.901-11C>T) c.1171-11C>T (n.1171-11C>T) c.1180-11C>T (n.1180-11C>T) c.526-11C>T (n.526-11C>T) c.970-11C>T (n.970-11C>T)	gnomAD v4
9	g.135765022C>A	CA2692516062	KCNT1	c.1036-9C>A (n.1036-9C>A) c.877-9C>A (n.877-9C>A) c.784-9C>A (n.784-9C>A) c.793-9C>A (n.793-9C>A) c.937-9C>A (n.937-9C>A) c.646-9C>A (n.646-9C>A) c.919-9C>A (n.919-9C>A) c.979-9C>A (n.979-9C>A) n.855-9C>A c.901-9C>A (n.901-9C>A) c.1171-9C>A (n.1171-9C>A) c.1180-9C>A (n.1180-9C>A) c.526-9C>A (n.526-9C>A) c.970-9C>A (n.970-9C>A)	gnomAD v4
9	g.135765022C=	CA1883866276	KCNT1	c.1036-9C= (n.1036-9C=) c.877-9C= (n.877-9C=) c.784-9C= (n.784-9C=) c.793-9C= (n.793-9C=) c.937-9C= (n.937-9C=) c.646-9C= (n.646-9C=) c.919-9C= (n.919-9C=) c.979-9C= (n.979-9C=) n.855-9C= c.901-9C= (n.901-9C=) c.1171-9C= (n.1171-9C=) c.1180-9C= (n.1180-9C=) c.526-9C= (n.526-9C=) c.970-9C= (n.970-9C=)
9	g.135765022C>T	CA5326756	KCNT1	c.1036-9C>T (n.1036-9C>T) c.877-9C>T (n.877-9C>T) c.784-9C>T (n.784-9C>T) c.793-9C>T (n.793-9C>T) c.937-9C>T (n.937-9C>T) c.646-9C>T (n.646-9C>T) c.919-9C>T (n.919-9C>T) c.979-9C>T (n.979-9C>T) n.855-9C>T c.901-9C>T (n.901-9C>T) c.1171-9C>T (n.1171-9C>T) c.1180-9C>T (n.1180-9C>T) c.526-9C>T (n.526-9C>T) c.970-9C>T (n.970-9C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9	g.135765022_135765023delinsCA	CA1883866275	KCNT1	c.1036-9_1036-8delinsCA (n.1036-9_1036-8delinsCA) c.877-9_877-8delinsCA (n.877-9_877-8delinsCA) c.784-9_784-8delinsCA (n.784-9_784-8delinsCA) c.793-9_793-8delinsCA (n.793-9_793-8delinsCA) c.937-9_937-8delinsCA (n.937-9_937-8delinsCA) c.646-9_646-8delinsCA (n.646-9_646-8delinsCA) c.919-9_919-8delinsCA (n.919-9_919-8delinsCA) c.979-9_979-8delinsCA (n.979-9_979-8delinsCA) n.855-9_855-8delinsCA c.901-9_901-8delinsCA (n.901-9_901-8delinsCA) c.1171-9_1171-8delinsCA (n.1171-9_1171-8delinsCA) c.1180-9_1180-8delinsCA (n.1180-9_1180-8delinsCA) c.526-9_526-8delinsCA (n.526-9_526-8delinsCA) c.970-9_970-8delinsCA (n.970-9_970-8delinsCA)
9	g.135765023del	CA5326755	KCNT1	c.1036-8del (n.1036-8del) c.877-8del (n.877-8del) c.784-8del (n.784-8del) c.793-8del (n.793-8del) c.937-8del (n.937-8del) c.646-8del (n.646-8del) c.919-8del (n.919-8del) c.979-8del (n.979-8del) n.855-8del c.901-8del (n.901-8del) c.1171-8del (n.1171-8del) c.1180-8del (n.1180-8del) c.526-8del (n.526-8del) c.970-8del (n.970-8del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9	g.135765023A>G	CA2692516064	KCNT1	c.1036-8A>G (n.1036-8A>G) c.877-8A>G (n.877-8A>G) c.784-8A>G (n.784-8A>G) c.793-8A>G (n.793-8A>G) c.937-8A>G (n.937-8A>G) c.646-8A>G (n.646-8A>G) c.919-8A>G (n.919-8A>G) c.979-8A>G (n.979-8A>G) n.855-8A>G c.901-8A>G (n.901-8A>G) c.1171-8A>G (n.1171-8A>G) c.1180-8A>G (n.1180-8A>G) c.526-8A>G (n.526-8A>G) c.970-8A>G (n.970-8A>G)	gnomAD v4
9	g.135765024C=	CA1883866277	KCNT1	c.1036-7C= (n.1036-7C=) c.877-7C= (n.877-7C=) c.784-7C= (n.784-7C=) c.793-7C= (n.793-7C=) c.937-7C= (n.937-7C=) c.646-7C= (n.646-7C=) c.919-7C= (n.919-7C=) c.979-7C= (n.979-7C=) n.855-7C= c.901-7C= (n.901-7C=) c.1171-7C= (n.1171-7C=) c.1180-7C= (n.1180-7C=) c.526-7C= (n.526-7C=) c.970-7C= (n.970-7C=)
9	g.135765024C>T	CA5326757	KCNT1	c.1036-7C>T (n.1036-7C>T) c.877-7C>T (n.877-7C>T) c.784-7C>T (n.784-7C>T) c.793-7C>T (n.793-7C>T) c.937-7C>T (n.937-7C>T) c.646-7C>T (n.646-7C>T) c.919-7C>T (n.919-7C>T) c.979-7C>T (n.979-7C>T) n.855-7C>T c.901-7C>T (n.901-7C>T) c.1171-7C>T (n.1171-7C>T) c.1180-7C>T (n.1180-7C>T) c.526-7C>T (n.526-7C>T) c.970-7C>T (n.970-7C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9	g.135765025C>T	CA2579510778	KCNT1	c.1036-6C>T (n.1036-6C>T) c.877-6C>T (n.877-6C>T) c.784-6C>T (n.784-6C>T) c.793-6C>T (n.793-6C>T) c.937-6C>T (n.937-6C>T) c.646-6C>T (n.646-6C>T) c.919-6C>T (n.919-6C>T) c.979-6C>T (n.979-6C>T) n.855-6C>T c.901-6C>T (n.901-6C>T) c.1171-6C>T (n.1171-6C>T) c.1180-6C>T (n.1180-6C>T) c.526-6C>T (n.526-6C>T) c.970-6C>T (n.970-6C>T)
9	g.135765026T>C	CA2692516068	KCNT1	c.1036-5T>C (n.1036-5T>C) c.877-5T>C (n.877-5T>C) c.784-5T>C (n.784-5T>C) c.793-5T>C (n.793-5T>C) c.937-5T>C (n.937-5T>C) c.646-5T>C (n.646-5T>C) c.919-5T>C (n.919-5T>C) c.979-5T>C (n.979-5T>C) n.855-5T>C c.901-5T>C (n.901-5T>C) c.1171-5T>C (n.1171-5T>C) c.1180-5T>C (n.1180-5T>C) c.526-5T>C (n.526-5T>C) c.970-5T>C (n.970-5T>C)	gnomAD v4
9	g.135765028C=	CA1883866278	KCNT1	c.1036-3C= (n.1036-3C=) c.877-3C= (n.877-3C=) c.784-3C= (n.784-3C=) c.793-3C= (n.793-3C=) c.937-3C= (n.937-3C=) c.646-3C= (n.646-3C=) c.919-3C= (n.919-3C=) c.979-3C= (n.979-3C=) n.855-3C= c.901-3C= (n.901-3C=) c.1171-3C= (n.1171-3C=) c.1180-3C= (n.1180-3C=) c.526-3C= (n.526-3C=) c.970-3C= (n.970-3C=)
9	g.135765028C>T	CA5326758	KCNT1	c.1036-3C>T (n.1036-3C>T) c.877-3C>T (n.877-3C>T) c.784-3C>T (n.784-3C>T) c.793-3C>T (n.793-3C>T) c.937-3C>T (n.937-3C>T) c.646-3C>T (n.646-3C>T) c.919-3C>T (n.919-3C>T) c.979-3C>T (n.979-3C>T) n.855-3C>T c.901-3C>T (n.901-3C>T) c.1171-3C>T (n.1171-3C>T) c.1180-3C>T (n.1180-3C>T) c.526-3C>T (n.526-3C>T) c.970-3C>T (n.970-3C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765029A>C	CA375499782	KCNT1	c.1036-2A>C (n.1036-2A>C) c.877-2A>C (n.877-2A>C) c.784-2A>C (n.784-2A>C) c.793-2A>C (n.793-2A>C) c.937-2A>C (n.937-2A>C) c.646-2A>C (n.646-2A>C) c.919-2A>C (n.919-2A>C) c.979-2A>C (n.979-2A>C) n.855-2A>C c.901-2A>C (n.901-2A>C) c.1171-2A>C (n.1171-2A>C) c.1180-2A>C (n.1180-2A>C) c.526-2A>C (n.526-2A>C) c.970-2A>C (n.970-2A>C)
9	g.135765029A>G	CA375499778	KCNT1	c.1036-2A>G (n.1036-2A>G) c.877-2A>G (n.877-2A>G) c.784-2A>G (n.784-2A>G) c.793-2A>G (n.793-2A>G) c.937-2A>G (n.937-2A>G) c.646-2A>G (n.646-2A>G) c.919-2A>G (n.919-2A>G) c.979-2A>G (n.979-2A>G) n.855-2A>G c.901-2A>G (n.901-2A>G) c.1171-2A>G (n.1171-2A>G) c.1180-2A>G (n.1180-2A>G) c.526-2A>G (n.526-2A>G) c.970-2A>G (n.970-2A>G)
9	g.135765029A>T	CA375499780	KCNT1	c.1036-2A>T (n.1036-2A>T) c.877-2A>T (n.877-2A>T) c.784-2A>T (n.784-2A>T) c.793-2A>T (n.793-2A>T) c.937-2A>T (n.937-2A>T) c.646-2A>T (n.646-2A>T) c.919-2A>T (n.919-2A>T) c.979-2A>T (n.979-2A>T) n.855-2A>T c.901-2A>T (n.901-2A>T) c.1171-2A>T (n.1171-2A>T) c.1180-2A>T (n.1180-2A>T) c.526-2A>T (n.526-2A>T) c.970-2A>T (n.970-2A>T)
9	g.135765030G>A	CA375499783	KCNT1	c.1036-1G>A (n.1036-1G>A) c.877-1G>A (n.877-1G>A) c.784-1G>A (n.784-1G>A) c.793-1G>A (n.793-1G>A) c.937-1G>A (n.937-1G>A) c.646-1G>A (n.646-1G>A) c.919-1G>A (n.919-1G>A) c.979-1G>A (n.979-1G>A) n.855-1G>A c.901-1G>A (n.901-1G>A) c.1171-1G>A (n.1171-1G>A) c.1180-1G>A (n.1180-1G>A) c.526-1G>A (n.526-1G>A) c.970-1G>A (n.970-1G>A)
9	g.135765030G>C	CA375499785	KCNT1	c.1036-1G>C (n.1036-1G>C) c.877-1G>C (n.877-1G>C) c.784-1G>C (n.784-1G>C) c.793-1G>C (n.793-1G>C) c.937-1G>C (n.937-1G>C) c.646-1G>C (n.646-1G>C) c.919-1G>C (n.919-1G>C) c.979-1G>C (n.979-1G>C) n.855-1G>C c.901-1G>C (n.901-1G>C) c.1171-1G>C (n.1171-1G>C) c.1180-1G>C (n.1180-1G>C) c.526-1G>C (n.526-1G>C) c.970-1G>C (n.970-1G>C)
9	g.135765030G>T	CA375499787	KCNT1	c.1036-1G>T (n.1036-1G>T) c.877-1G>T (n.877-1G>T) c.784-1G>T (n.784-1G>T) c.793-1G>T (n.793-1G>T) c.937-1G>T (n.937-1G>T) c.646-1G>T (n.646-1G>T) c.919-1G>T (n.919-1G>T) c.979-1G>T (n.979-1G>T) n.855-1G>T c.901-1G>T (n.901-1G>T) c.1171-1G>T (n.1171-1G>T) c.1180-1G>T (n.1180-1G>T) c.526-1G>T (n.526-1G>T) c.970-1G>T (n.970-1G>T)
9	g.135765031T>A	CA375499789	KCNT1	c.1036T>A (p.Phe346Ile) c.877T>A (p.Phe293Ile) c.784T>A (p.Phe262Ile) c.793T>A (p.Phe265Ile) c.937T>A (p.Phe313Ile) c.646T>A (n.646T>A) c.919T>A (p.Phe307Ile) c.979T>A (p.Phe327Ile) n.855T>A c.901T>A (p.Phe301Ile) c.1171T>A (p.Phe391Ile) c.1180T>A (p.Phe394Ile) c.526T>A (p.Phe176Ile) c.970T>A (p.Phe324Ile)
9	g.135765031T>C	CA375499790	KCNT1	c.1036T>C (p.Phe346Leu) c.877T>C (p.Phe293Leu) c.784T>C (p.Phe262Leu) c.793T>C (p.Phe265Leu) c.937T>C (p.Phe313Leu) c.646T>C (n.646T>C) c.919T>C (p.Phe307Leu) c.979T>C (p.Phe327Leu) n.855T>C c.901T>C (p.Phe301Leu) c.1171T>C (p.Phe391Leu) c.1180T>C (p.Phe394Leu) c.526T>C (p.Phe176Leu) c.970T>C (p.Phe324Leu)
9	g.135765031T>G	CA375499791	KCNT1	c.1036T>G (p.Phe346Val) c.877T>G (p.Phe293Val) c.784T>G (p.Phe262Val) c.793T>G (p.Phe265Val) c.937T>G (p.Phe313Val) c.646T>G (n.646T>G) c.919T>G (p.Phe307Val) c.979T>G (p.Phe327Val) n.855T>G c.901T>G (p.Phe301Val) c.1171T>G (p.Phe391Val) c.1180T>G (p.Phe394Val) c.526T>G (p.Phe176Val) c.970T>G (p.Phe324Val)
9	g.135765032T>A	CA375499792	KCNT1	c.1037T>A (p.Phe346Tyr) c.878T>A (p.Phe293Tyr) c.785T>A (p.Phe262Tyr) c.794T>A (p.Phe265Tyr) c.938T>A (p.Phe313Tyr) c.647T>A (n.647T>A) c.920T>A (p.Phe307Tyr) c.980T>A (p.Phe327Tyr) n.856T>A c.902T>A (p.Phe301Tyr) c.1172T>A (p.Phe391Tyr) c.1181T>A (p.Phe394Tyr) c.527T>A (p.Phe176Tyr) c.971T>A (p.Phe324Tyr)
9	g.135765032T>C	CA375499793	KCNT1	c.1037T>C (p.Phe346Ser) c.878T>C (p.Phe293Ser) c.785T>C (p.Phe262Ser) c.794T>C (p.Phe265Ser) c.938T>C (p.Phe313Ser) c.647T>C (n.647T>C) c.920T>C (p.Phe307Ser) c.980T>C (p.Phe327Ser) n.856T>C c.902T>C (p.Phe301Ser) c.1172T>C (p.Phe391Ser) c.1181T>C (p.Phe394Ser) c.527T>C (p.Phe176Ser) c.971T>C (p.Phe324Ser)
9	g.135765032T>G	CA375499794	KCNT1	c.1037T>G (p.Phe346Cys) c.878T>G (p.Phe293Cys) c.785T>G (p.Phe262Cys) c.794T>G (p.Phe265Cys) c.938T>G (p.Phe313Cys) c.647T>G (n.647T>G) c.920T>G (p.Phe307Cys) c.980T>G (p.Phe327Cys) n.856T>G c.902T>G (p.Phe301Cys) c.1172T>G (p.Phe391Cys) c.1181T>G (p.Phe394Cys) c.527T>G (p.Phe176Cys) c.971T>G (p.Phe324Cys)
9	g.135765033C>A	CA375499795	KCNT1	c.1038C>A (p.Phe346Leu) c.879C>A (p.Phe293Leu) c.786C>A (p.Phe262Leu) c.795C>A (p.Phe265Leu) c.939C>A (p.Phe313Leu) c.648C>A (n.648C>A) c.921C>A (p.Phe307Leu) c.981C>A (p.Phe327Leu) n.857C>A c.903C>A (p.Phe301Leu) c.1173C>A (p.Phe391Leu) c.1182C>A (p.Phe394Leu) c.528C>A (p.Phe176Leu) c.972C>A (p.Phe324Leu)	ClinVar dbSNP
9	g.135765033C=	CA1883866279	KCNT1	c.1038C= (p.Phe346=) c.879C= (p.Phe293=) c.786C= (p.Phe262=) c.795C= (p.Phe265=) c.939C= (p.Phe313=) c.648C= (n.648C=) c.921C= (p.Phe307=) c.981C= (p.Phe327=) n.857C= c.903C= (p.Phe301=) c.1173C= (p.Phe391=) c.1182C= (p.Phe394=) c.528C= (p.Phe176=) c.972C= (p.Phe324=)
9	g.135765033C>G	CA375499796	KCNT1	c.1038C>G (p.Phe346Leu) c.879C>G (p.Phe293Leu) c.786C>G (p.Phe262Leu) c.795C>G (p.Phe265Leu) c.939C>G (p.Phe313Leu) c.648C>G (n.648C>G) c.921C>G (p.Phe307Leu) c.981C>G (p.Phe327Leu) n.857C>G c.903C>G (p.Phe301Leu) c.1173C>G (p.Phe391Leu) c.1182C>G (p.Phe394Leu) c.528C>G (p.Phe176Leu) c.972C>G (p.Phe324Leu)	ClinVar dbSNP
9	g.135765033C>T	CA5326759	KCNT1	c.1038C>T (p.Phe346=) c.879C>T (p.Phe293=) c.786C>T (p.Phe262=) c.795C>T (p.Phe265=) c.939C>T (p.Phe313=) c.648C>T (n.648C>T) c.921C>T (p.Phe307=) c.981C>T (p.Phe327=) n.857C>T c.903C>T (p.Phe301=) c.1173C>T (p.Phe391=) c.1182C>T (p.Phe394=) c.528C>T (p.Phe176=) c.972C>T (p.Phe324=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9	g.135765034G>A	CA201465084	KCNT1	c.1039G>A (p.Glu347Lys) c.880G>A (p.Glu294Lys) c.787G>A (p.Glu263Lys) c.796G>A (p.Glu266Lys) c.940G>A (p.Glu314Lys) c.649G>A (n.649G>A) c.922G>A (p.Glu308Lys) c.982G>A (p.Glu328Lys) n.858G>A c.904G>A (p.Glu302Lys) c.1174G>A (p.Glu392Lys) c.1183G>A (p.Glu395Lys) c.529G>A (p.Glu177Lys) c.973G>A (p.Glu325Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765034G>C	CA375499798	KCNT1	c.1039G>C (p.Glu347Gln) c.880G>C (p.Glu294Gln) c.787G>C (p.Glu263Gln) c.796G>C (p.Glu266Gln) c.940G>C (p.Glu314Gln) c.649G>C (n.649G>C) c.922G>C (p.Glu308Gln) c.982G>C (p.Glu328Gln) n.858G>C c.904G>C (p.Glu302Gln) c.1174G>C (p.Glu392Gln) c.1183G>C (p.Glu395Gln) c.529G>C (p.Glu177Gln) c.973G>C (p.Glu325Gln)
9	g.135765034G=	CA1883866280	KCNT1	c.1039G= (p.Glu347=) c.880G= (p.Glu294=) c.787G= (p.Glu263=) c.796G= (p.Glu266=) c.940G= (p.Glu314=) c.649G= (n.649G=) c.922G= (p.Glu308=) c.982G= (p.Glu328=) n.858G= c.904G= (p.Glu302=) c.1174G= (p.Glu392=) c.1183G= (p.Glu395=) c.529G= (p.Glu177=) c.973G= (p.Glu325=)
9	g.135765034G>T	CA375499797	KCNT1	c.1039G>T (p.Glu347Ter) c.880G>T (p.Glu294Ter) c.787G>T (p.Glu263Ter) c.796G>T (p.Glu266Ter) c.940G>T (p.Glu314Ter) c.649G>T (n.649G>T) c.922G>T (p.Glu308Ter) c.982G>T (p.Glu328Ter) n.858G>T c.904G>T (p.Glu302Ter) c.1174G>T (p.Glu392Ter) c.1183G>T (p.Glu395Ter) c.529G>T (p.Glu177Ter) c.973G>T (p.Glu325Ter)
9	g.135765035A>C	CA375499801	KCNT1	c.1040A>C (p.Glu347Ala) c.881A>C (p.Glu294Ala) c.788A>C (p.Glu263Ala) c.797A>C (p.Glu266Ala) c.941A>C (p.Glu314Ala) c.650A>C (n.650A>C) c.923A>C (p.Glu308Ala) c.983A>C (p.Glu328Ala) n.859A>C c.905A>C (p.Glu302Ala) c.1175A>C (p.Glu392Ala) c.1184A>C (p.Glu395Ala) c.530A>C (p.Glu177Ala) c.974A>C (p.Glu325Ala)
9	g.135765035A>G	CA375499799	KCNT1	c.1040A>G (p.Glu347Gly) c.881A>G (p.Glu294Gly) c.788A>G (p.Glu263Gly) c.797A>G (p.Glu266Gly) c.941A>G (p.Glu314Gly) c.650A>G (n.650A>G) c.923A>G (p.Glu308Gly) c.983A>G (p.Glu328Gly) n.859A>G c.905A>G (p.Glu302Gly) c.1175A>G (p.Glu392Gly) c.1184A>G (p.Glu395Gly) c.530A>G (p.Glu177Gly) c.974A>G (p.Glu325Gly)
9	g.135765035A>T	CA375499800	KCNT1	c.1040A>T (p.Glu347Val) c.881A>T (p.Glu294Val) c.788A>T (p.Glu263Val) c.797A>T (p.Glu266Val) c.941A>T (p.Glu314Val) c.650A>T (n.650A>T) c.923A>T (p.Glu308Val) c.983A>T (p.Glu328Val) n.859A>T c.905A>T (p.Glu302Val) c.1175A>T (p.Glu392Val) c.1184A>T (p.Glu395Val) c.530A>T (p.Glu177Val) c.974A>T (p.Glu325Val)
9	g.135765036G>A	CA467697913	KCNT1	c.1041G>A (p.Glu347=) c.882G>A (p.Glu294=) c.789G>A (p.Glu263=) c.798G>A (p.Glu266=) c.942G>A (p.Glu314=) c.651G>A (n.651G>A) c.924G>A (p.Glu308=) c.984G>A (p.Glu328=) n.860G>A c.906G>A (p.Glu302=) c.1176G>A (p.Glu392=) c.1185G>A (p.Glu395=) c.531G>A (p.Glu177=) c.975G>A (p.Glu325=)
9	g.135765036G>C	CA375499802	KCNT1	c.1041G>C (p.Glu347Asp) c.882G>C (p.Glu294Asp) c.789G>C (p.Glu263Asp) c.798G>C (p.Glu266Asp) c.942G>C (p.Glu314Asp) c.651G>C (n.651G>C) c.924G>C (p.Glu308Asp) c.984G>C (p.Glu328Asp) n.860G>C c.906G>C (p.Glu302Asp) c.1176G>C (p.Glu392Asp) c.1185G>C (p.Glu395Asp) c.531G>C (p.Glu177Asp) c.975G>C (p.Glu325Asp)
9	g.135765036G>T	CA375499803	KCNT1	c.1041G>T (p.Glu347Asp) c.882G>T (p.Glu294Asp) c.789G>T (p.Glu263Asp) c.798G>T (p.Glu266Asp) c.942G>T (p.Glu314Asp) c.651G>T (n.651G>T) c.924G>T (p.Glu308Asp) c.984G>T (p.Glu328Asp) n.860G>T c.906G>T (p.Glu302Asp) c.1176G>T (p.Glu392Asp) c.1185G>T (p.Glu395Asp) c.531G>T (p.Glu177Asp) c.975G>T (p.Glu325Asp)
9	g.135765037G>A	CA375499805	KCNT1	c.1042G>A (p.Glu348Lys) c.883G>A (p.Glu295Lys) c.790G>A (p.Glu264Lys) c.799G>A (p.Glu267Lys) c.943G>A (p.Glu315Lys) c.652G>A (n.652G>A) c.925G>A (p.Glu309Lys) c.985G>A (p.Glu329Lys) n.861G>A c.907G>A (p.Glu303Lys) c.1177G>A (p.Glu393Lys) c.1186G>A (p.Glu396Lys) c.532G>A (p.Glu178Lys) c.976G>A (p.Glu326Lys)
9	g.135765037G>C	CA375499806	KCNT1	c.1042G>C (p.Glu348Gln) c.883G>C (p.Glu295Gln) c.790G>C (p.Glu264Gln) c.799G>C (p.Glu267Gln) c.943G>C (p.Glu315Gln) c.652G>C (n.652G>C) c.925G>C (p.Glu309Gln) c.985G>C (p.Glu329Gln) n.861G>C c.907G>C (p.Glu303Gln) c.1177G>C (p.Glu393Gln) c.1186G>C (p.Glu396Gln) c.532G>C (p.Glu178Gln) c.976G>C (p.Glu326Gln)
9	g.135765037G>T	CA375499807	KCNT1	c.1042G>T (p.Glu348Ter) c.883G>T (p.Glu295Ter) c.790G>T (p.Glu264Ter) c.799G>T (p.Glu267Ter) c.943G>T (p.Glu315Ter) c.652G>T (n.652G>T) c.925G>T (p.Glu309Ter) c.985G>T (p.Glu329Ter) n.861G>T c.907G>T (p.Glu303Ter) c.1177G>T (p.Glu393Ter) c.1186G>T (p.Glu396Ter) c.532G>T (p.Glu178Ter) c.976G>T (p.Glu326Ter)
9	g.135765038A>C	CA375499809	KCNT1	c.1043A>C (p.Glu348Ala) c.884A>C (p.Glu295Ala) c.791A>C (p.Glu264Ala) c.800A>C (p.Glu267Ala) c.944A>C (p.Glu315Ala) c.653A>C (n.653A>C) c.926A>C (p.Glu309Ala) c.986A>C (p.Glu329Ala) n.862A>C c.908A>C (p.Glu303Ala) c.1178A>C (p.Glu393Ala) c.1187A>C (p.Glu396Ala) c.533A>C (p.Glu178Ala) c.977A>C (p.Glu326Ala)
9	g.135765038A>G	CA375499811	KCNT1	c.1043A>G (p.Glu348Gly) c.884A>G (p.Glu295Gly) c.791A>G (p.Glu264Gly) c.800A>G (p.Glu267Gly) c.944A>G (p.Glu315Gly) c.653A>G (n.653A>G) c.926A>G (p.Glu309Gly) c.986A>G (p.Glu329Gly) n.862A>G c.908A>G (p.Glu303Gly) c.1178A>G (p.Glu393Gly) c.1187A>G (p.Glu396Gly) c.533A>G (p.Glu178Gly) c.977A>G (p.Glu326Gly)
9	g.135765038A>T	CA375499813	KCNT1	c.1043A>T (p.Glu348Val) c.884A>T (p.Glu295Val) c.791A>T (p.Glu264Val) c.800A>T (p.Glu267Val) c.944A>T (p.Glu315Val) c.653A>T (n.653A>T) c.926A>T (p.Glu309Val) c.986A>T (p.Glu329Val) n.862A>T c.908A>T (p.Glu303Val) c.1178A>T (p.Glu393Val) c.1187A>T (p.Glu396Val) c.533A>T (p.Glu178Val) c.977A>T (p.Glu326Val)
9	g.135765039G>A	CA467697931	KCNT1	c.1044G>A (p.Glu348=) c.885G>A (p.Glu295=) c.792G>A (p.Glu264=) c.801G>A (p.Glu267=) c.945G>A (p.Glu315=) c.654G>A (n.654G>A) c.927G>A (p.Glu309=) c.987G>A (p.Glu329=) n.863G>A c.909G>A (p.Glu303=) c.1179G>A (p.Glu393=) c.1188G>A (p.Glu396=) c.534G>A (p.Glu178=) c.978G>A (p.Glu326=)	dbSNP gnomAD v4
9	g.135765039G>C	CA375499815	KCNT1	c.1044G>C (p.Glu348Asp) c.885G>C (p.Glu295Asp) c.792G>C (p.Glu264Asp) c.801G>C (p.Glu267Asp) c.945G>C (p.Glu315Asp) c.654G>C (n.654G>C) c.927G>C (p.Glu309Asp) c.987G>C (p.Glu329Asp) n.863G>C c.909G>C (p.Glu303Asp) c.1179G>C (p.Glu393Asp) c.1188G>C (p.Glu396Asp) c.534G>C (p.Glu178Asp) c.978G>C (p.Glu326Asp)
9	g.135765039G=	CA1883866281	KCNT1	c.1044G= (p.Glu348=) c.885G= (p.Glu295=) c.792G= (p.Glu264=) c.801G= (p.Glu267=) c.945G= (p.Glu315=) c.654G= (n.654G=) c.927G= (p.Glu309=) c.987G= (p.Glu329=) n.863G= c.909G= (p.Glu303=) c.1179G= (p.Glu393=) c.1188G= (p.Glu396=) c.534G= (p.Glu178=) c.978G= (p.Glu326=)
9	g.135765039G>T	CA375499816	KCNT1	c.1044G>T (p.Glu348Asp) c.885G>T (p.Glu295Asp) c.792G>T (p.Glu264Asp) c.801G>T (p.Glu267Asp) c.945G>T (p.Glu315Asp) c.654G>T (n.654G>T) c.927G>T (p.Glu309Asp) c.987G>T (p.Glu329Asp) n.863G>T c.909G>T (p.Glu303Asp) c.1179G>T (p.Glu393Asp) c.1188G>T (p.Glu396Asp) c.534G>T (p.Glu178Asp) c.978G>T (p.Glu326Asp)
9	g.135765040C>A	CA375499821	KCNT1	c.1045C>A (p.Leu349Ile) c.886C>A (p.Leu296Ile) c.793C>A (p.Leu265Ile) c.802C>A (p.Leu268Ile) c.946C>A (p.Leu316Ile) c.655C>A (n.655C>A) c.928C>A (p.Leu310Ile) c.988C>A (p.Leu330Ile) n.864C>A c.910C>A (p.Leu304Ile) c.1180C>A (p.Leu394Ile) c.1189C>A (p.Leu397Ile) c.535C>A (p.Leu179Ile) c.979C>A (p.Leu327Ile)	gnomAD v4
9	g.135765040C>G	CA375499820	KCNT1	c.1045C>G (p.Leu349Val) c.886C>G (p.Leu296Val) c.793C>G (p.Leu265Val) c.802C>G (p.Leu268Val) c.946C>G (p.Leu316Val) c.655C>G (n.655C>G) c.928C>G (p.Leu310Val) c.988C>G (p.Leu330Val) n.864C>G c.910C>G (p.Leu304Val) c.1180C>G (p.Leu394Val) c.1189C>G (p.Leu397Val) c.535C>G (p.Leu179Val) c.979C>G (p.Leu327Val)
9	g.135765040C>T	CA375499819	KCNT1	c.1045C>T (p.Leu349Phe) c.886C>T (p.Leu296Phe) c.793C>T (p.Leu265Phe) c.802C>T (p.Leu268Phe) c.946C>T (p.Leu316Phe) c.655C>T (n.655C>T) c.928C>T (p.Leu310Phe) c.988C>T (p.Leu330Phe) n.864C>T c.910C>T (p.Leu304Phe) c.1180C>T (p.Leu394Phe) c.1189C>T (p.Leu397Phe) c.535C>T (p.Leu179Phe) c.979C>T (p.Leu327Phe)
9	g.135765041T>A	CA375499824	KCNT1	c.1046T>A (p.Leu349His) c.887T>A (p.Leu296His) c.794T>A (p.Leu265His) c.803T>A (p.Leu268His) c.947T>A (p.Leu316His) c.656T>A (n.656T>A) c.929T>A (p.Leu310His) c.989T>A (p.Leu330His) n.865T>A c.911T>A (p.Leu304His) c.1181T>A (p.Leu394His) c.1190T>A (p.Leu397His) c.536T>A (p.Leu179His) c.980T>A (p.Leu327His)
9	g.135765041T>C	CA375499826	KCNT1	c.1046T>C (p.Leu349Pro) c.887T>C (p.Leu296Pro) c.794T>C (p.Leu265Pro) c.803T>C (p.Leu268Pro) c.947T>C (p.Leu316Pro) c.656T>C (n.656T>C) c.929T>C (p.Leu310Pro) c.989T>C (p.Leu330Pro) n.865T>C c.911T>C (p.Leu304Pro) c.1181T>C (p.Leu394Pro) c.1190T>C (p.Leu397Pro) c.536T>C (p.Leu179Pro) c.980T>C (p.Leu327Pro)	gnomAD v4
9	g.135765041T>G	CA375499827	KCNT1	c.1046T>G (p.Leu349Arg) c.887T>G (p.Leu296Arg) c.794T>G (p.Leu265Arg) c.803T>G (p.Leu268Arg) c.947T>G (p.Leu316Arg) c.656T>G (n.656T>G) c.929T>G (p.Leu310Arg) c.989T>G (p.Leu330Arg) n.865T>G c.911T>G (p.Leu304Arg) c.1181T>G (p.Leu394Arg) c.1190T>G (p.Leu397Arg) c.536T>G (p.Leu179Arg) c.980T>G (p.Leu327Arg)
9	g.135765042C>A	CA467697950	KCNT1	c.1047C>A (p.Leu349=) c.888C>A (p.Leu296=) c.795C>A (p.Leu265=) c.804C>A (p.Leu268=) c.948C>A (p.Leu316=) c.657C>A (n.657C>A) c.930C>A (p.Leu310=) c.990C>A (p.Leu330=) n.866C>A c.912C>A (p.Leu304=) c.1182C>A (p.Leu394=) c.1191C>A (p.Leu397=) c.537C>A (p.Leu179=) c.981C>A (p.Leu327=)
9	g.135765042C=	CA1883866282	KCNT1	c.1047C= (p.Leu349=) c.888C= (p.Leu296=) c.795C= (p.Leu265=) c.804C= (p.Leu268=) c.948C= (p.Leu316=) c.657C= (n.657C=) c.930C= (p.Leu310=) c.990C= (p.Leu330=) n.866C= c.912C= (p.Leu304=) c.1182C= (p.Leu394=) c.1191C= (p.Leu397=) c.537C= (p.Leu179=) c.981C= (p.Leu327=)
9	g.135765042C>G	CA467697952	KCNT1	c.1047C>G (p.Leu349=) c.888C>G (p.Leu296=) c.795C>G (p.Leu265=) c.804C>G (p.Leu268=) c.948C>G (p.Leu316=) c.657C>G (n.657C>G) c.930C>G (p.Leu310=) c.990C>G (p.Leu330=) n.866C>G c.912C>G (p.Leu304=) c.1182C>G (p.Leu394=) c.1191C>G (p.Leu397=) c.537C>G (p.Leu179=) c.981C>G (p.Leu327=)
9	g.135765042C>T	CA5326760	KCNT1	c.1047C>T (p.Leu349=) c.888C>T (p.Leu296=) c.795C>T (p.Leu265=) c.804C>T (p.Leu268=) c.948C>T (p.Leu316=) c.657C>T (n.657C>T) c.930C>T (p.Leu310=) c.990C>T (p.Leu330=) n.866C>T c.912C>T (p.Leu304=) c.1182C>T (p.Leu394=) c.1191C>T (p.Leu397=) c.537C>T (p.Leu179=) c.981C>T (p.Leu327=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765043G>A	CA5326761	KCNT1	c.1048G>A (p.Val350Ile) c.889G>A (p.Val297Ile) c.796G>A (p.Val266Ile) c.805G>A (p.Val269Ile) c.949G>A (p.Val317Ile) c.658G>A (n.658G>A) c.931G>A (p.Val311Ile) c.991G>A (p.Val331Ile) n.867G>A c.913G>A (p.Val305Ile) c.1183G>A (p.Val395Ile) c.1192G>A (p.Val398Ile) c.538G>A (p.Val180Ile) c.982G>A (p.Val328Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765043G>C	CA375499831	KCNT1	c.1048G>C (p.Val350Leu) c.889G>C (p.Val297Leu) c.796G>C (p.Val266Leu) c.805G>C (p.Val269Leu) c.949G>C (p.Val317Leu) c.658G>C (n.658G>C) c.931G>C (p.Val311Leu) c.991G>C (p.Val331Leu) n.867G>C c.913G>C (p.Val305Leu) c.1183G>C (p.Val395Leu) c.1192G>C (p.Val398Leu) c.538G>C (p.Val180Leu) c.982G>C (p.Val328Leu)
9	g.135765043G=	CA1883866283	KCNT1	c.1048G= (p.Val350=) c.889G= (p.Val297=) c.796G= (p.Val266=) c.805G= (p.Val269=) c.949G= (p.Val317=) c.658G= (n.658G=) c.931G= (p.Val311=) c.991G= (p.Val331=) n.867G= c.913G= (p.Val305=) c.1183G= (p.Val395=) c.1192G= (p.Val398=) c.538G= (p.Val180=) c.982G= (p.Val328=)
9	g.135765043G>T	CA375499833	KCNT1	c.1048G>T (p.Val350Phe) c.889G>T (p.Val297Phe) c.796G>T (p.Val266Phe) c.805G>T (p.Val269Phe) c.949G>T (p.Val317Phe) c.658G>T (n.658G>T) c.931G>T (p.Val311Phe) c.991G>T (p.Val331Phe) n.867G>T c.913G>T (p.Val305Phe) c.1183G>T (p.Val395Phe) c.1192G>T (p.Val398Phe) c.538G>T (p.Val180Phe) c.982G>T (p.Val328Phe)
9	g.135765044T>A	CA375499835	KCNT1	c.1049T>A (p.Val350Asp) c.890T>A (p.Val297Asp) c.797T>A (p.Val266Asp) c.806T>A (p.Val269Asp) c.950T>A (p.Val317Asp) c.659T>A (n.659T>A) c.932T>A (p.Val311Asp) c.992T>A (p.Val331Asp) n.868T>A c.914T>A (p.Val305Asp) c.1184T>A (p.Val395Asp) c.1193T>A (p.Val398Asp) c.539T>A (p.Val180Asp) c.983T>A (p.Val328Asp)	dbSNP gnomAD v2 gnomAD v4
9	g.135765044T>C	CA375499837	KCNT1	c.1049T>C (p.Val350Ala) c.890T>C (p.Val297Ala) c.797T>C (p.Val266Ala) c.806T>C (p.Val269Ala) c.950T>C (p.Val317Ala) c.659T>C (n.659T>C) c.932T>C (p.Val311Ala) c.992T>C (p.Val331Ala) n.868T>C c.914T>C (p.Val305Ala) c.1184T>C (p.Val395Ala) c.1193T>C (p.Val398Ala) c.539T>C (p.Val180Ala) c.983T>C (p.Val328Ala)	ClinVar dbSNP gnomAD v4
9	g.135765044T>G	CA375499840	KCNT1	c.1049T>G (p.Val350Gly) c.890T>G (p.Val297Gly) c.797T>G (p.Val266Gly) c.806T>G (p.Val269Gly) c.950T>G (p.Val317Gly) c.659T>G (n.659T>G) c.932T>G (p.Val311Gly) c.992T>G (p.Val331Gly) n.868T>G c.914T>G (p.Val305Gly) c.1184T>G (p.Val395Gly) c.1193T>G (p.Val398Gly) c.539T>G (p.Val180Gly) c.983T>G (p.Val328Gly)
9	g.135765044T=	CA1883866284	KCNT1	c.1049T= (p.Val350=) c.890T= (p.Val297=) c.797T= (p.Val266=) c.806T= (p.Val269=) c.950T= (p.Val317=) c.659T= (n.659T=) c.932T= (p.Val311=) c.992T= (p.Val331=) n.868T= c.914T= (p.Val305=) c.1184T= (p.Val395=) c.1193T= (p.Val398=) c.539T= (p.Val180=) c.983T= (p.Val328=)
9	g.135765045C>A	CA467697969	KCNT1	c.1050C>A (p.Val350=) c.891C>A (p.Val297=) c.798C>A (p.Val266=) c.807C>A (p.Val269=) c.951C>A (p.Val317=) c.660C>A (n.660C>A) c.933C>A (p.Val311=) c.993C>A (p.Val331=) n.869C>A c.915C>A (p.Val305=) c.1185C>A (p.Val395=) c.1194C>A (p.Val398=) c.540C>A (p.Val180=) c.984C>A (p.Val328=)
9	g.135765045C>G	CA467697967	KCNT1	c.1050C>G (p.Val350=) c.891C>G (p.Val297=) c.798C>G (p.Val266=) c.807C>G (p.Val269=) c.951C>G (p.Val317=) c.660C>G (n.660C>G) c.933C>G (p.Val311=) c.993C>G (p.Val331=) n.869C>G c.915C>G (p.Val305=) c.1185C>G (p.Val395=) c.1194C>G (p.Val398=) c.540C>G (p.Val180=) c.984C>G (p.Val328=)
9	g.135765045C>T	CA467697968	KCNT1	c.1050C>T (p.Val350=) c.891C>T (p.Val297=) c.798C>T (p.Val266=) c.807C>T (p.Val269=) c.951C>T (p.Val317=) c.660C>T (n.660C>T) c.933C>T (p.Val311=) c.993C>T (p.Val331=) n.869C>T c.915C>T (p.Val305=) c.1185C>T (p.Val395=) c.1194C>T (p.Val398=) c.540C>T (p.Val180=) c.984C>T (p.Val328=)	COSMIC COSMIC
9	g.135765046T>A	CA375499842	KCNT1	c.1051T>A (p.Tyr351Asn) c.892T>A (p.Tyr298Asn) c.799T>A (p.Tyr267Asn) c.808T>A (p.Tyr270Asn) c.952T>A (p.Tyr318Asn) c.661T>A (n.661T>A) c.934T>A (p.Tyr312Asn) c.994T>A (p.Tyr332Asn) n.870T>A c.916T>A (p.Tyr306Asn) c.1186T>A (p.Tyr396Asn) c.1195T>A (p.Tyr399Asn) c.541T>A (p.Tyr181Asn) c.985T>A (p.Tyr329Asn)
9	g.135765046T>C	CA375499844	KCNT1	c.1051T>C (p.Tyr351His) c.892T>C (p.Tyr298His) c.799T>C (p.Tyr267His) c.808T>C (p.Tyr270His) c.952T>C (p.Tyr318His) c.661T>C (n.661T>C) c.934T>C (p.Tyr312His) c.994T>C (p.Tyr332His) n.870T>C c.916T>C (p.Tyr306His) c.1186T>C (p.Tyr396His) c.1195T>C (p.Tyr399His) c.541T>C (p.Tyr181His) c.985T>C (p.Tyr329His)
9	g.135765046T>G	CA375499846	KCNT1	c.1051T>G (p.Tyr351Asp) c.892T>G (p.Tyr298Asp) c.799T>G (p.Tyr267Asp) c.808T>G (p.Tyr270Asp) c.952T>G (p.Tyr318Asp) c.661T>G (n.661T>G) c.934T>G (p.Tyr312Asp) c.994T>G (p.Tyr332Asp) n.870T>G c.916T>G (p.Tyr306Asp) c.1186T>G (p.Tyr396Asp) c.1195T>G (p.Tyr399Asp) c.541T>G (p.Tyr181Asp) c.985T>G (p.Tyr329Asp)
9	g.135765047A>C	CA375499851	KCNT1	c.1052A>C (p.Tyr351Ser) c.893A>C (p.Tyr298Ser) c.800A>C (p.Tyr267Ser) c.809A>C (p.Tyr270Ser) c.953A>C (p.Tyr318Ser) c.662A>C (n.662A>C) c.935A>C (p.Tyr312Ser) c.995A>C (p.Tyr332Ser) n.871A>C c.917A>C (p.Tyr306Ser) c.1187A>C (p.Tyr396Ser) c.1196A>C (p.Tyr399Ser) c.542A>C (p.Tyr181Ser) c.986A>C (p.Tyr329Ser)
9	g.135765047A>G	CA375499849	KCNT1	c.1052A>G (p.Tyr351Cys) c.893A>G (p.Tyr298Cys) c.800A>G (p.Tyr267Cys) c.809A>G (p.Tyr270Cys) c.953A>G (p.Tyr318Cys) c.662A>G (n.662A>G) c.935A>G (p.Tyr312Cys) c.995A>G (p.Tyr332Cys) n.871A>G c.917A>G (p.Tyr306Cys) c.1187A>G (p.Tyr396Cys) c.1196A>G (p.Tyr399Cys) c.542A>G (p.Tyr181Cys) c.986A>G (p.Tyr329Cys)
9	g.135765047A>T	CA375499848	KCNT1	c.1052A>T (p.Tyr351Phe) c.893A>T (p.Tyr298Phe) c.800A>T (p.Tyr267Phe) c.809A>T (p.Tyr270Phe) c.953A>T (p.Tyr318Phe) c.662A>T (n.662A>T) c.935A>T (p.Tyr312Phe) c.995A>T (p.Tyr332Phe) n.871A>T c.917A>T (p.Tyr306Phe) c.1187A>T (p.Tyr396Phe) c.1196A>T (p.Tyr399Phe) c.542A>T (p.Tyr181Phe) c.986A>T (p.Tyr329Phe)	gnomAD v4
9	g.135765048C>A	CA375499855	KCNT1	c.1053C>A (p.Tyr351Ter) c.894C>A (p.Tyr298Ter) c.801C>A (p.Tyr267Ter) c.810C>A (p.Tyr270Ter) c.954C>A (p.Tyr318Ter) c.663C>A (n.663C>A) c.936C>A (p.Tyr312Ter) c.996C>A (p.Tyr332Ter) n.872C>A c.918C>A (p.Tyr306Ter) c.1188C>A (p.Tyr396Ter) c.1197C>A (p.Tyr399Ter) c.543C>A (p.Tyr181Ter) c.987C>A (p.Tyr329Ter)
9	g.135765048C=	CA1883866285	KCNT1	c.1053C= (p.Tyr351=) c.894C= (p.Tyr298=) c.801C= (p.Tyr267=) c.810C= (p.Tyr270=) c.954C= (p.Tyr318=) c.663C= (n.663C=) c.936C= (p.Tyr312=) c.996C= (p.Tyr332=) n.872C= c.918C= (p.Tyr306=) c.1188C= (p.Tyr396=) c.1197C= (p.Tyr399=) c.543C= (p.Tyr181=) c.987C= (p.Tyr329=)
9	g.135765048C>G	CA375499853	KCNT1	c.1053C>G (p.Tyr351Ter) c.894C>G (p.Tyr298Ter) c.801C>G (p.Tyr267Ter) c.810C>G (p.Tyr270Ter) c.954C>G (p.Tyr318Ter) c.663C>G (n.663C>G) c.936C>G (p.Tyr312Ter) c.996C>G (p.Tyr332Ter) n.872C>G c.918C>G (p.Tyr306Ter) c.1188C>G (p.Tyr396Ter) c.1197C>G (p.Tyr399Ter) c.543C>G (p.Tyr181Ter) c.987C>G (p.Tyr329Ter)
9	g.135765048C>T	CA201465096	KCNT1	c.1053C>T (p.Tyr351=) c.894C>T (p.Tyr298=) c.801C>T (p.Tyr267=) c.810C>T (p.Tyr270=) c.954C>T (p.Tyr318=) c.663C>T (n.663C>T) c.936C>T (p.Tyr312=) c.996C>T (p.Tyr332=) n.872C>T c.918C>T (p.Tyr306=) c.1188C>T (p.Tyr396=) c.1197C>T (p.Tyr399=) c.543C>T (p.Tyr181=) c.987C>T (p.Tyr329=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765049C>A	CA375499856	KCNT1	c.1054C>A (p.Leu352Ile) c.895C>A (p.Leu299Ile) c.802C>A (p.Leu268Ile) c.811C>A (p.Leu271Ile) c.955C>A (p.Leu319Ile) c.664C>A (n.664C>A) c.937C>A (p.Leu313Ile) c.997C>A (p.Leu333Ile) n.873C>A c.919C>A (p.Leu307Ile) c.1189C>A (p.Leu397Ile) c.1198C>A (p.Leu400Ile) c.544C>A (p.Leu182Ile) c.988C>A (p.Leu330Ile)	dbSNP
9	g.135765049C=	CA1883866286	KCNT1	c.1054C= (p.Leu352=) c.895C= (p.Leu299=) c.802C= (p.Leu268=) c.811C= (p.Leu271=) c.955C= (p.Leu319=) c.664C= (n.664C=) c.937C= (p.Leu313=) c.997C= (p.Leu333=) n.873C= c.919C= (p.Leu307=) c.1189C= (p.Leu397=) c.1198C= (p.Leu400=) c.544C= (p.Leu182=) c.988C= (p.Leu330=)
9	g.135765049C>G	CA375499859	KCNT1	c.1054C>G (p.Leu352Val) c.895C>G (p.Leu299Val) c.802C>G (p.Leu268Val) c.811C>G (p.Leu271Val) c.955C>G (p.Leu319Val) c.664C>G (n.664C>G) c.937C>G (p.Leu313Val) c.997C>G (p.Leu333Val) n.873C>G c.919C>G (p.Leu307Val) c.1189C>G (p.Leu397Val) c.1198C>G (p.Leu400Val) c.544C>G (p.Leu182Val) c.988C>G (p.Leu330Val)	ClinVar gnomAD v4 COSMIC COSMIC
9	g.135765049C>T	CA375499861	KCNT1	c.1054C>T (p.Leu352Phe) c.895C>T (p.Leu299Phe) c.802C>T (p.Leu268Phe) c.811C>T (p.Leu271Phe) c.955C>T (p.Leu319Phe) c.664C>T (n.664C>T) c.937C>T (p.Leu313Phe) c.997C>T (p.Leu333Phe) n.873C>T c.919C>T (p.Leu307Phe) c.1189C>T (p.Leu397Phe) c.1198C>T (p.Leu400Phe) c.544C>T (p.Leu182Phe) c.988C>T (p.Leu330Phe)
9	g.135765050T>A	CA375499863	KCNT1	c.1055T>A (p.Leu352His) c.896T>A (p.Leu299His) c.803T>A (p.Leu268His) c.812T>A (p.Leu271His) c.956T>A (p.Leu319His) c.665T>A (n.665T>A) c.938T>A (p.Leu313His) c.998T>A (p.Leu333His) n.874T>A c.920T>A (p.Leu307His) c.1190T>A (p.Leu397His) c.1199T>A (p.Leu400His) c.545T>A (p.Leu182His) c.989T>A (p.Leu330His)
9	g.135765050T>C	CA375499865	KCNT1	c.1055T>C (p.Leu352Pro) c.896T>C (p.Leu299Pro) c.803T>C (p.Leu268Pro) c.812T>C (p.Leu271Pro) c.956T>C (p.Leu319Pro) c.665T>C (n.665T>C) c.938T>C (p.Leu313Pro) c.998T>C (p.Leu333Pro) n.874T>C c.920T>C (p.Leu307Pro) c.1190T>C (p.Leu397Pro) c.1199T>C (p.Leu400Pro) c.545T>C (p.Leu182Pro) c.989T>C (p.Leu330Pro)
9	g.135765050T>G	CA375499866	KCNT1	c.1055T>G (p.Leu352Arg) c.896T>G (p.Leu299Arg) c.803T>G (p.Leu268Arg) c.812T>G (p.Leu271Arg) c.956T>G (p.Leu319Arg) c.665T>G (n.665T>G) c.938T>G (p.Leu313Arg) c.998T>G (p.Leu333Arg) n.874T>G c.920T>G (p.Leu307Arg) c.1190T>G (p.Leu397Arg) c.1199T>G (p.Leu400Arg) c.545T>G (p.Leu182Arg) c.989T>G (p.Leu330Arg)
9	g.135765051C>A	CA467697982	KCNT1	c.1056C>A (p.Leu352=) c.897C>A (p.Leu299=) c.804C>A (p.Leu268=) c.813C>A (p.Leu271=) c.957C>A (p.Leu319=) c.666C>A (n.666C>A) c.939C>A (p.Leu313=) c.999C>A (p.Leu333=) n.875C>A c.921C>A (p.Leu307=) c.1191C>A (p.Leu397=) c.1200C>A (p.Leu400=) c.546C>A (p.Leu182=) c.990C>A (p.Leu330=)
9	g.135765051C=	CA1883866287	KCNT1	c.1056C= (p.Leu352=) c.897C= (p.Leu299=) c.804C= (p.Leu268=) c.813C= (p.Leu271=) c.957C= (p.Leu319=) c.666C= (n.666C=) c.939C= (p.Leu313=) c.999C= (p.Leu333=) n.875C= c.921C= (p.Leu307=) c.1191C= (p.Leu397=) c.1200C= (p.Leu400=) c.546C= (p.Leu182=) c.990C= (p.Leu330=)
9	g.135765051C>G	CA5326762	KCNT1	c.1056C>G (p.Leu352=) c.897C>G (p.Leu299=) c.804C>G (p.Leu268=) c.813C>G (p.Leu271=) c.957C>G (p.Leu319=) c.666C>G (n.666C>G) c.939C>G (p.Leu313=) c.999C>G (p.Leu333=) n.875C>G c.921C>G (p.Leu307=) c.1191C>G (p.Leu397=) c.1200C>G (p.Leu400=) c.546C>G (p.Leu182=) c.990C>G (p.Leu330=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765051C>T	CA467697983	KCNT1	c.1056C>T (p.Leu352=) c.897C>T (p.Leu299=) c.804C>T (p.Leu268=) c.813C>T (p.Leu271=) c.957C>T (p.Leu319=) c.666C>T (n.666C>T) c.939C>T (p.Leu313=) c.999C>T (p.Leu333=) n.875C>T c.921C>T (p.Leu307=) c.1191C>T (p.Leu397=) c.1200C>T (p.Leu400=) c.546C>T (p.Leu182=) c.990C>T (p.Leu330=)	dbSNP gnomAD v2
9	g.135765052T>A	CA375499870	KCNT1	c.1057T>A (p.Trp353Arg) c.898T>A (p.Trp300Arg) c.805T>A (p.Trp269Arg) c.814T>A (p.Trp272Arg) c.958T>A (p.Trp320Arg) c.667T>A (n.667T>A) c.940T>A (p.Trp314Arg) c.1000T>A (p.Trp334Arg) n.876T>A c.922T>A (p.Trp308Arg) c.1192T>A (p.Trp398Arg) c.1201T>A (p.Trp401Arg) c.547T>A (p.Trp183Arg) c.991T>A (p.Trp331Arg)
9	g.135765052T>C	CA201465102	KCNT1	c.1057T>C (p.Trp353Arg) c.898T>C (p.Trp300Arg) c.805T>C (p.Trp269Arg) c.814T>C (p.Trp272Arg) c.958T>C (p.Trp320Arg) c.667T>C (n.667T>C) c.940T>C (p.Trp314Arg) c.1000T>C (p.Trp334Arg) n.876T>C c.922T>C (p.Trp308Arg) c.1192T>C (p.Trp398Arg) c.1201T>C (p.Trp401Arg) c.547T>C (p.Trp183Arg) c.991T>C (p.Trp331Arg)	dbSNP
9	g.135765052T>G	CA375499872	KCNT1	c.1057T>G (p.Trp353Gly) c.898T>G (p.Trp300Gly) c.805T>G (p.Trp269Gly) c.814T>G (p.Trp272Gly) c.958T>G (p.Trp320Gly) c.667T>G (n.667T>G) c.940T>G (p.Trp314Gly) c.1000T>G (p.Trp334Gly) n.876T>G c.922T>G (p.Trp308Gly) c.1192T>G (p.Trp398Gly) c.1201T>G (p.Trp401Gly) c.547T>G (p.Trp183Gly) c.991T>G (p.Trp331Gly)
9	g.135765052T=	CA1883866288	KCNT1	c.1057T= (p.Trp353=) c.898T= (p.Trp300=) c.805T= (p.Trp269=) c.814T= (p.Trp272=) c.958T= (p.Trp320=) c.667T= (n.667T=) c.940T= (p.Trp314=) c.1000T= (p.Trp334=) n.876T= c.922T= (p.Trp308=) c.1192T= (p.Trp398=) c.1201T= (p.Trp401=) c.547T= (p.Trp183=) c.991T= (p.Trp331=)
9	g.135765053G>A	CA375499875	KCNT1	c.1058G>A (p.Trp353Ter) c.899G>A (p.Trp300Ter) c.806G>A (p.Trp269Ter) c.815G>A (p.Trp272Ter) c.959G>A (p.Trp320Ter) c.668G>A (n.668G>A) c.941G>A (p.Trp314Ter) c.1001G>A (p.Trp334Ter) n.877G>A c.923G>A (p.Trp308Ter) c.1193G>A (p.Trp398Ter) c.1202G>A (p.Trp401Ter) c.548G>A (p.Trp183Ter) c.992G>A (p.Trp331Ter)	dbSNP gnomAD v2 gnomAD v4
9	g.135765053G>C	CA375499876	KCNT1	c.1058G>C (p.Trp353Ser) c.899G>C (p.Trp300Ser) c.806G>C (p.Trp269Ser) c.815G>C (p.Trp272Ser) c.959G>C (p.Trp320Ser) c.668G>C (n.668G>C) c.941G>C (p.Trp314Ser) c.1001G>C (p.Trp334Ser) n.877G>C c.923G>C (p.Trp308Ser) c.1193G>C (p.Trp398Ser) c.1202G>C (p.Trp401Ser) c.548G>C (p.Trp183Ser) c.992G>C (p.Trp331Ser)
9	g.135765053G=	CA1883866289	KCNT1	c.1058G= (p.Trp353=) c.899G= (p.Trp300=) c.806G= (p.Trp269=) c.815G= (p.Trp272=) c.959G= (p.Trp320=) c.668G= (n.668G=) c.941G= (p.Trp314=) c.1001G= (p.Trp334=) n.877G= c.923G= (p.Trp308=) c.1193G= (p.Trp398=) c.1202G= (p.Trp401=) c.548G= (p.Trp183=) c.992G= (p.Trp331=)
9	g.135765053G>T	CA375499878	KCNT1	c.1058G>T (p.Trp353Leu) c.899G>T (p.Trp300Leu) c.806G>T (p.Trp269Leu) c.815G>T (p.Trp272Leu) c.959G>T (p.Trp320Leu) c.668G>T (n.668G>T) c.941G>T (p.Trp314Leu) c.1001G>T (p.Trp334Leu) n.877G>T c.923G>T (p.Trp308Leu) c.1193G>T (p.Trp398Leu) c.1202G>T (p.Trp401Leu) c.548G>T (p.Trp183Leu) c.992G>T (p.Trp331Leu)
9	g.135765054G>A	CA375499881	KCNT1	c.1059G>A (p.Trp353Ter) c.900G>A (p.Trp300Ter) c.807G>A (p.Trp269Ter) c.816G>A (p.Trp272Ter) c.960G>A (p.Trp320Ter) c.669G>A (n.669G>A) c.942G>A (p.Trp314Ter) c.1002G>A (p.Trp334Ter) n.878G>A c.924G>A (p.Trp308Ter) c.1194G>A (p.Trp398Ter) c.1203G>A (p.Trp401Ter) c.549G>A (p.Trp183Ter) c.993G>A (p.Trp331Ter)	gnomAD v4
9	g.135765054G>C	CA375499885	KCNT1	c.1059G>C (p.Trp353Cys) c.900G>C (p.Trp300Cys) c.807G>C (p.Trp269Cys) c.816G>C (p.Trp272Cys) c.960G>C (p.Trp320Cys) c.669G>C (n.669G>C) c.942G>C (p.Trp314Cys) c.1002G>C (p.Trp334Cys) n.878G>C c.924G>C (p.Trp308Cys) c.1194G>C (p.Trp398Cys) c.1203G>C (p.Trp401Cys) c.549G>C (p.Trp183Cys) c.993G>C (p.Trp331Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
9	g.135765054G=	CA1883866290	KCNT1	c.1059G= (p.Trp353=) c.900G= (p.Trp300=) c.807G= (p.Trp269=) c.816G= (p.Trp272=) c.960G= (p.Trp320=) c.669G= (n.669G=) c.942G= (p.Trp314=) c.1002G= (p.Trp334=) n.878G= c.924G= (p.Trp308=) c.1194G= (p.Trp398=) c.1203G= (p.Trp401=) c.549G= (p.Trp183=) c.993G= (p.Trp331=)
9	g.135765054G>T	CA375499883	KCNT1	c.1059G>T (p.Trp353Cys) c.900G>T (p.Trp300Cys) c.807G>T (p.Trp269Cys) c.816G>T (p.Trp272Cys) c.960G>T (p.Trp320Cys) c.669G>T (n.669G>T) c.942G>T (p.Trp314Cys) c.1002G>T (p.Trp334Cys) n.878G>T c.924G>T (p.Trp308Cys) c.1194G>T (p.Trp398Cys) c.1203G>T (p.Trp401Cys) c.549G>T (p.Trp183Cys) c.993G>T (p.Trp331Cys)
9	g.135765055A>C	CA375499887	KCNT1	c.1060A>C (p.Met354Leu) c.901A>C (p.Met301Leu) c.808A>C (p.Met270Leu) c.817A>C (p.Met273Leu) c.961A>C (p.Met321Leu) c.670A>C (n.670A>C) c.943A>C (p.Met315Leu) c.1003A>C (p.Met335Leu) n.879A>C c.925A>C (p.Met309Leu) c.1195A>C (p.Met399Leu) c.1204A>C (p.Met402Leu) c.550A>C (p.Met184Leu) c.994A>C (p.Met332Leu)	gnomAD v3 gnomAD v4
9	g.135765055A>G	CA375499888	KCNT1	c.1060A>G (p.Met354Val) c.901A>G (p.Met301Val) c.808A>G (p.Met270Val) c.817A>G (p.Met273Val) c.961A>G (p.Met321Val) c.670A>G (n.670A>G) c.943A>G (p.Met315Val) c.1003A>G (p.Met335Val) n.879A>G c.925A>G (p.Met309Val) c.1195A>G (p.Met399Val) c.1204A>G (p.Met402Val) c.550A>G (p.Met184Val) c.994A>G (p.Met332Val)	ClinVar dbSNP
9	g.135765055A>T	CA375499890	KCNT1	c.1060A>T (p.Met354Leu) c.901A>T (p.Met301Leu) c.808A>T (p.Met270Leu) c.817A>T (p.Met273Leu) c.961A>T (p.Met321Leu) c.670A>T (n.670A>T) c.943A>T (p.Met315Leu) c.1003A>T (p.Met335Leu) n.879A>T c.925A>T (p.Met309Leu) c.1195A>T (p.Met399Leu) c.1204A>T (p.Met402Leu) c.550A>T (p.Met184Leu) c.994A>T (p.Met332Leu)
9	g.135765056T>A	CA375499893	KCNT1	c.1061T>A (p.Met354Lys) c.902T>A (p.Met301Lys) c.809T>A (p.Met270Lys) c.818T>A (p.Met273Lys) c.962T>A (p.Met321Lys) c.671T>A (n.671T>A) c.944T>A (p.Met315Lys) c.1004T>A (p.Met335Lys) n.880T>A c.926T>A (p.Met309Lys) c.1196T>A (p.Met399Lys) c.1205T>A (p.Met402Lys) c.551T>A (p.Met184Lys) c.995T>A (p.Met332Lys)
9	g.135765056T>C	CA375499894	KCNT1	c.1061T>C (p.Met354Thr) c.902T>C (p.Met301Thr) c.809T>C (p.Met270Thr) c.818T>C (p.Met273Thr) c.962T>C (p.Met321Thr) c.671T>C (n.671T>C) c.944T>C (p.Met315Thr) c.1004T>C (p.Met335Thr) n.880T>C c.926T>C (p.Met309Thr) c.1196T>C (p.Met399Thr) c.1205T>C (p.Met402Thr) c.551T>C (p.Met184Thr) c.995T>C (p.Met332Thr)
9	g.135765056T>G	CA16606388	KCNT1	c.1061T>G (p.Met354Arg) c.902T>G (p.Met301Arg) c.809T>G (p.Met270Arg) c.818T>G (p.Met273Arg) c.962T>G (p.Met321Arg) c.671T>G (n.671T>G) c.944T>G (p.Met315Arg) c.1004T>G (p.Met335Arg) n.880T>G c.926T>G (p.Met309Arg) c.1196T>G (p.Met399Arg) c.1205T>G (p.Met402Arg) c.551T>G (p.Met184Arg) c.995T>G (p.Met332Arg)	ClinVar dbSNP
9	g.135765056T=	CA1883866291	KCNT1	c.1061T= (p.Met354=) c.902T= (p.Met301=) c.809T= (p.Met270=) c.818T= (p.Met273=) c.962T= (p.Met321=) c.671T= (n.671T=) c.944T= (p.Met315=) c.1004T= (p.Met335=) n.880T= c.926T= (p.Met309=) c.1196T= (p.Met399=) c.1205T= (p.Met402=) c.551T= (p.Met184=) c.995T= (p.Met332=)
9	g.135765057G>A	CA375499897	KCNT1	c.1062G>A (p.Met354Ile) c.903G>A (p.Met301Ile) c.810G>A (p.Met270Ile) c.819G>A (p.Met273Ile) c.963G>A (p.Met321Ile) c.672G>A (n.672G>A) c.945G>A (p.Met315Ile) c.1005G>A (p.Met335Ile) n.881G>A c.927G>A (p.Met309Ile) c.1197G>A (p.Met399Ile) c.1206G>A (p.Met402Ile) c.552G>A (p.Met184Ile) c.996G>A (p.Met332Ile)	COSMIC COSMIC
9	g.135765057G>C	CA375499899	KCNT1	c.1062G>C (p.Met354Ile) c.903G>C (p.Met301Ile) c.810G>C (p.Met270Ile) c.819G>C (p.Met273Ile) c.963G>C (p.Met321Ile) c.672G>C (n.672G>C) c.945G>C (p.Met315Ile) c.1005G>C (p.Met335Ile) n.881G>C c.927G>C (p.Met309Ile) c.1197G>C (p.Met399Ile) c.1206G>C (p.Met402Ile) c.552G>C (p.Met184Ile) c.996G>C (p.Met332Ile)
9	g.135765057G>T	CA375499901	KCNT1	c.1062G>T (p.Met354Ile) c.903G>T (p.Met301Ile) c.810G>T (p.Met270Ile) c.819G>T (p.Met273Ile) c.963G>T (p.Met321Ile) c.672G>T (n.672G>T) c.945G>T (p.Met315Ile) c.1005G>T (p.Met335Ile) n.881G>T c.927G>T (p.Met309Ile) c.1197G>T (p.Met399Ile) c.1206G>T (p.Met402Ile) c.552G>T (p.Met184Ile) c.996G>T (p.Met332Ile)
9	g.135765058G>A	CA375499903	KCNT1	c.1063G>A (p.Glu355Lys) c.904G>A (p.Glu302Lys) c.811G>A (p.Glu271Lys) c.820G>A (p.Glu274Lys) c.964G>A (p.Glu322Lys) c.673G>A (n.673G>A) c.946G>A (p.Glu316Lys) c.1006G>A (p.Glu336Lys) n.882G>A c.928G>A (p.Glu310Lys) c.1198G>A (p.Glu400Lys) c.1207G>A (p.Glu403Lys) c.553G>A (p.Glu185Lys) c.997G>A (p.Glu333Lys)
9	g.135765058G>C	CA375499905	KCNT1	c.1063G>C (p.Glu355Gln) c.904G>C (p.Glu302Gln) c.811G>C (p.Glu271Gln) c.820G>C (p.Glu274Gln) c.964G>C (p.Glu322Gln) c.673G>C (n.673G>C) c.946G>C (p.Glu316Gln) c.1006G>C (p.Glu336Gln) n.882G>C c.928G>C (p.Glu310Gln) c.1198G>C (p.Glu400Gln) c.1207G>C (p.Glu403Gln) c.553G>C (p.Glu185Gln) c.997G>C (p.Glu333Gln)
9	g.135765058G>T	CA375499907	KCNT1	c.1063G>T (p.Glu355Ter) c.904G>T (p.Glu302Ter) c.811G>T (p.Glu271Ter) c.820G>T (p.Glu274Ter) c.964G>T (p.Glu322Ter) c.673G>T (n.673G>T) c.946G>T (p.Glu316Ter) c.1006G>T (p.Glu336Ter) n.882G>T c.928G>T (p.Glu310Ter) c.1198G>T (p.Glu400Ter) c.1207G>T (p.Glu403Ter) c.553G>T (p.Glu185Ter) c.997G>T (p.Glu333Ter)
9	g.135765059A=	CA1883866292	KCNT1	c.1064A= (p.Glu355=) c.905A= (p.Glu302=) c.812A= (p.Glu271=) c.821A= (p.Glu274=) c.965A= (p.Glu322=) c.674A= (n.674A=) c.947A= (p.Glu316=) c.1007A= (p.Glu336=) n.883A= c.929A= (p.Glu310=) c.1199A= (p.Glu400=) c.1208A= (p.Glu403=) c.554A= (p.Glu185=) c.998A= (p.Glu333=)
9	g.135765059A>C	CA375499911	KCNT1	c.1064A>C (p.Glu355Ala) c.905A>C (p.Glu302Ala) c.812A>C (p.Glu271Ala) c.821A>C (p.Glu274Ala) c.965A>C (p.Glu322Ala) c.674A>C (n.674A>C) c.947A>C (p.Glu316Ala) c.1007A>C (p.Glu336Ala) n.883A>C c.929A>C (p.Glu310Ala) c.1199A>C (p.Glu400Ala) c.1208A>C (p.Glu403Ala) c.554A>C (p.Glu185Ala) c.998A>C (p.Glu333Ala)
9	g.135765059A>G	CA375499912	KCNT1	c.1064A>G (p.Glu355Gly) c.905A>G (p.Glu302Gly) c.812A>G (p.Glu271Gly) c.821A>G (p.Glu274Gly) c.965A>G (p.Glu322Gly) c.674A>G (n.674A>G) c.947A>G (p.Glu316Gly) c.1007A>G (p.Glu336Gly) n.883A>G c.929A>G (p.Glu310Gly) c.1199A>G (p.Glu400Gly) c.1208A>G (p.Glu403Gly) c.554A>G (p.Glu185Gly) c.998A>G (p.Glu333Gly)	dbSNP gnomAD v3 gnomAD v4
9	g.135765059A>T	CA375499909	KCNT1	c.1064A>T (p.Glu355Val) c.905A>T (p.Glu302Val) c.812A>T (p.Glu271Val) c.821A>T (p.Glu274Val) c.965A>T (p.Glu322Val) c.674A>T (n.674A>T) c.947A>T (p.Glu316Val) c.1007A>T (p.Glu336Val) n.883A>T c.929A>T (p.Glu310Val) c.1199A>T (p.Glu400Val) c.1208A>T (p.Glu403Val) c.554A>T (p.Glu185Val) c.998A>T (p.Glu333Val)
9	g.135765060G>A	CA467697990	KCNT1	c.1065G>A (p.Glu355=) c.906G>A (p.Glu302=) c.813G>A (p.Glu271=) c.822G>A (p.Glu274=) c.966G>A (p.Glu322=) c.675G>A (n.675G>A) c.948G>A (p.Glu316=) c.1008G>A (p.Glu336=) n.884G>A c.930G>A (p.Glu310=) c.1200G>A (p.Glu400=) c.1209G>A (p.Glu403=) c.555G>A (p.Glu185=) c.999G>A (p.Glu333=)	ClinVar dbSNP gnomAD v4
9	g.135765060G>C	CA375499914	KCNT1	c.1065G>C (p.Glu355Asp) c.906G>C (p.Glu302Asp) c.813G>C (p.Glu271Asp) c.822G>C (p.Glu274Asp) c.966G>C (p.Glu322Asp) c.675G>C (n.675G>C) c.948G>C (p.Glu316Asp) c.1008G>C (p.Glu336Asp) n.884G>C c.930G>C (p.Glu310Asp) c.1200G>C (p.Glu400Asp) c.1209G>C (p.Glu403Asp) c.555G>C (p.Glu185Asp) c.999G>C (p.Glu333Asp)
9	g.135765060G=	CA1883866293	KCNT1	c.1065G= (p.Glu355=) c.906G= (p.Glu302=) c.813G= (p.Glu271=) c.822G= (p.Glu274=) c.966G= (p.Glu322=) c.675G= (n.675G=) c.948G= (p.Glu316=) c.1008G= (p.Glu336=) n.884G= c.930G= (p.Glu310=) c.1200G= (p.Glu400=) c.1209G= (p.Glu403=) c.555G= (p.Glu185=) c.999G= (p.Glu333=)
9	g.135765060G>T	CA375499916	KCNT1	c.1065G>T (p.Glu355Asp) c.906G>T (p.Glu302Asp) c.813G>T (p.Glu271Asp) c.822G>T (p.Glu274Asp) c.966G>T (p.Glu322Asp) c.675G>T (n.675G>T) c.948G>T (p.Glu316Asp) c.1008G>T (p.Glu336Asp) n.884G>T c.930G>T (p.Glu310Asp) c.1200G>T (p.Glu400Asp) c.1209G>T (p.Glu403Asp) c.555G>T (p.Glu185Asp) c.999G>T (p.Glu333Asp)
9	g.135765061C>A	CA467697991	KCNT1	c.1066C>A (p.Arg356=) c.907C>A (p.Arg303=) c.814C>A (p.Arg272=) c.823C>A (p.Arg275=) c.967C>A (p.Arg323=) c.676C>A (n.676C>A) c.949C>A (p.Arg317=) c.1009C>A (p.Arg337=) n.885C>A c.931C>A (p.Arg311=) c.1201C>A (p.Arg401=) c.1210C>A (p.Arg404=) c.556C>A (p.Arg186=) c.1000C>A (p.Arg334=)	dbSNP gnomAD v2
9	g.135765061C=	CA1883866294	KCNT1	c.1066C= (p.Arg356=) c.907C= (p.Arg303=) c.814C= (p.Arg272=) c.823C= (p.Arg275=) c.967C= (p.Arg323=) c.676C= (n.676C=) c.949C= (p.Arg317=) c.1009C= (p.Arg337=) n.885C= c.931C= (p.Arg311=) c.1201C= (p.Arg401=) c.1210C= (p.Arg404=) c.556C= (p.Arg186=) c.1000C= (p.Arg334=)
9	g.135765061C>G	CA5326763	KCNT1	c.1066C>G (p.Arg356Gly) c.907C>G (p.Arg303Gly) c.814C>G (p.Arg272Gly) c.823C>G (p.Arg275Gly) c.967C>G (p.Arg323Gly) c.676C>G (n.676C>G) c.949C>G (p.Arg317Gly) c.1009C>G (p.Arg337Gly) n.885C>G c.931C>G (p.Arg311Gly) c.1201C>G (p.Arg401Gly) c.1210C>G (p.Arg404Gly) c.556C>G (p.Arg186Gly) c.1000C>G (p.Arg334Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
9	g.135765061C>T	CA16605732	KCNT1	c.1066C>T (p.Arg356Trp) c.907C>T (p.Arg303Trp) c.814C>T (p.Arg272Trp) c.823C>T (p.Arg275Trp) c.967C>T (p.Arg323Trp) c.676C>T (n.676C>T) c.949C>T (p.Arg317Trp) c.1009C>T (p.Arg337Trp) n.885C>T c.931C>T (p.Arg311Trp) c.1201C>T (p.Arg401Trp) c.1210C>T (p.Arg404Trp) c.556C>T (p.Arg186Trp) c.1000C>T (p.Arg334Trp)	ClinVar dbSNP gnomAD v4
9	g.135765062G>A	CA5326764	KCNT1	c.1067G>A (p.Arg356Gln) c.908G>A (p.Arg303Gln) c.815G>A (p.Arg272Gln) c.824G>A (p.Arg275Gln) c.968G>A (p.Arg323Gln) c.677G>A (n.677G>A) c.950G>A (p.Arg317Gln) c.1010G>A (p.Arg337Gln) n.886G>A c.932G>A (p.Arg311Gln) c.1202G>A (p.Arg401Gln) c.1211G>A (p.Arg404Gln) c.557G>A (p.Arg186Gln) c.1001G>A (p.Arg334Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9	g.135765062G>C	CA375499921	KCNT1	c.1067G>C (p.Arg356Pro) c.908G>C (p.Arg303Pro) c.815G>C (p.Arg272Pro) c.824G>C (p.Arg275Pro) c.968G>C (p.Arg323Pro) c.677G>C (n.677G>C) c.950G>C (p.Arg317Pro) c.1010G>C (p.Arg337Pro) n.886G>C c.932G>C (p.Arg311Pro) c.1202G>C (p.Arg401Pro) c.1211G>C (p.Arg404Pro) c.557G>C (p.Arg186Pro) c.1001G>C (p.Arg334Pro)
9	g.135765062G=	CA1883866295	KCNT1	c.1067G= (p.Arg356=) c.908G= (p.Arg303=) c.815G= (p.Arg272=) c.824G= (p.Arg275=) c.968G= (p.Arg323=) c.677G= (n.677G=) c.950G= (p.Arg317=) c.1010G= (p.Arg337=) n.886G= c.932G= (p.Arg311=) c.1202G= (p.Arg401=) c.1211G= (p.Arg404=) c.557G= (p.Arg186=) c.1001G= (p.Arg334=)
9	g.135765062G>T	CA375499922	KCNT1	c.1067G>T (p.Arg356Leu) c.908G>T (p.Arg303Leu) c.815G>T (p.Arg272Leu) c.824G>T (p.Arg275Leu) c.968G>T (p.Arg323Leu) c.677G>T (n.677G>T) c.950G>T (p.Arg317Leu) c.1010G>T (p.Arg337Leu) n.886G>T c.932G>T (p.Arg311Leu) c.1202G>T (p.Arg401Leu) c.1211G>T (p.Arg404Leu) c.557G>T (p.Arg186Leu) c.1001G>T (p.Arg334Leu)
9	g.135765063G>A	CA467697993	KCNT1	c.1068G>A (p.Arg356=) c.909G>A (p.Arg303=) c.816G>A (p.Arg272=) c.825G>A (p.Arg275=) c.969G>A (p.Arg323=) c.678G>A (n.678G>A) c.951G>A (p.Arg317=) c.1011G>A (p.Arg337=) n.887G>A c.933G>A (p.Arg311=) c.1203G>A (p.Arg401=) c.1212G>A (p.Arg404=) c.558G>A (p.Arg186=) c.1002G>A (p.Arg334=)
9	g.135765063G>C	CA467697994	KCNT1	c.1068G>C (p.Arg356=) c.909G>C (p.Arg303=) c.816G>C (p.Arg272=) c.825G>C (p.Arg275=) c.969G>C (p.Arg323=) c.678G>C (n.678G>C) c.951G>C (p.Arg317=) c.1011G>C (p.Arg337=) n.887G>C c.933G>C (p.Arg311=) c.1203G>C (p.Arg401=) c.1212G>C (p.Arg404=) c.558G>C (p.Arg186=) c.1002G>C (p.Arg334=)
9	g.135765063G>T	CA467697995	KCNT1	c.1068G>T (p.Arg356=) c.909G>T (p.Arg303=) c.816G>T (p.Arg272=) c.825G>T (p.Arg275=) c.969G>T (p.Arg323=) c.678G>T (n.678G>T) c.951G>T (p.Arg317=) c.1011G>T (p.Arg337=) n.887G>T c.933G>T (p.Arg311=) c.1203G>T (p.Arg401=) c.1212G>T (p.Arg404=) c.558G>T (p.Arg186=) c.1002G>T (p.Arg334=)
9	g.135765064C>A	CA375499924	KCNT1	c.1069C>A (p.Gln357Lys) c.910C>A (p.Gln304Lys) c.817C>A (p.Gln273Lys) c.826C>A (p.Gln276Lys) c.970C>A (p.Gln324Lys) c.679C>A (n.679C>A) c.952C>A (p.Gln318Lys) c.1012C>A (p.Gln338Lys) n.888C>A c.934C>A (p.Gln312Lys) c.1204C>A (p.Gln402Lys) c.1213C>A (p.Gln405Lys) c.559C>A (p.Gln187Lys) c.1003C>A (p.Gln335Lys)
9	g.135765064C=	CA1883866296	KCNT1	c.1069C= (p.Gln357=) c.910C= (p.Gln304=) c.817C= (p.Gln273=) c.826C= (p.Gln276=) c.970C= (p.Gln324=) c.679C= (n.679C=) c.952C= (p.Gln318=) c.1012C= (p.Gln338=) n.888C= c.934C= (p.Gln312=) c.1204C= (p.Gln402=) c.1213C= (p.Gln405=) c.559C= (p.Gln187=) c.1003C= (p.Gln335=)
9	g.135765064C>G	CA375499925	KCNT1	c.1069C>G (p.Gln357Glu) c.910C>G (p.Gln304Glu) c.817C>G (p.Gln273Glu) c.826C>G (p.Gln276Glu) c.970C>G (p.Gln324Glu) c.679C>G (n.679C>G) c.952C>G (p.Gln318Glu) c.1012C>G (p.Gln338Glu) n.888C>G c.934C>G (p.Gln312Glu) c.1204C>G (p.Gln402Glu) c.1213C>G (p.Gln405Glu) c.559C>G (p.Gln187Glu) c.1003C>G (p.Gln335Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765064C>T	CA375499928	KCNT1	c.1069C>T (p.Gln357Ter) c.910C>T (p.Gln304Ter) c.817C>T (p.Gln273Ter) c.826C>T (p.Gln276Ter) c.970C>T (p.Gln324Ter) c.679C>T (n.679C>T) c.952C>T (p.Gln318Ter) c.1012C>T (p.Gln338Ter) n.888C>T c.934C>T (p.Gln312Ter) c.1204C>T (p.Gln402Ter) c.1213C>T (p.Gln405Ter) c.559C>T (p.Gln187Ter) c.1003C>T (p.Gln335Ter)	gnomAD v4
9	g.135765065A>C	CA375499930	KCNT1	c.1070A>C (p.Gln357Pro) c.911A>C (p.Gln304Pro) c.818A>C (p.Gln273Pro) c.827A>C (p.Gln276Pro) c.971A>C (p.Gln324Pro) c.680A>C (n.680A>C) c.953A>C (p.Gln318Pro) c.1013A>C (p.Gln338Pro) n.889A>C c.935A>C (p.Gln312Pro) c.1205A>C (p.Gln402Pro) c.1214A>C (p.Gln405Pro) c.560A>C (p.Gln187Pro) c.1004A>C (p.Gln335Pro)
9	g.135765065A>G	CA375499932	KCNT1	c.1070A>G (p.Gln357Arg) c.911A>G (p.Gln304Arg) c.818A>G (p.Gln273Arg) c.827A>G (p.Gln276Arg) c.971A>G (p.Gln324Arg) c.680A>G (n.680A>G) c.953A>G (p.Gln318Arg) c.1013A>G (p.Gln338Arg) n.889A>G c.935A>G (p.Gln312Arg) c.1205A>G (p.Gln402Arg) c.1214A>G (p.Gln405Arg) c.560A>G (p.Gln187Arg) c.1004A>G (p.Gln335Arg)
9	g.135765065A>T	CA375499934	KCNT1	c.1070A>T (p.Gln357Leu) c.911A>T (p.Gln304Leu) c.818A>T (p.Gln273Leu) c.827A>T (p.Gln276Leu) c.971A>T (p.Gln324Leu) c.680A>T (n.680A>T) c.953A>T (p.Gln318Leu) c.1013A>T (p.Gln338Leu) n.889A>T c.935A>T (p.Gln312Leu) c.1205A>T (p.Gln402Leu) c.1214A>T (p.Gln405Leu) c.560A>T (p.Gln187Leu) c.1004A>T (p.Gln335Leu)
9	g.135765066G>A	CA467697997	KCNT1	c.1071G>A (p.Gln357=) c.912G>A (p.Gln304=) c.819G>A (p.Gln273=) c.828G>A (p.Gln276=) c.972G>A (p.Gln324=) c.681G>A (n.681G>A) c.954G>A (p.Gln318=) c.1014G>A (p.Gln338=) n.890G>A c.936G>A (p.Gln312=) c.1206G>A (p.Gln402=) c.1215G>A (p.Gln405=) c.561G>A (p.Gln187=) c.1005G>A (p.Gln335=)	COSMIC COSMIC
9	g.135765066G>C	CA375499936	KCNT1	c.1071G>C (p.Gln357His) c.912G>C (p.Gln304His) c.819G>C (p.Gln273His) c.828G>C (p.Gln276His) c.972G>C (p.Gln324His) c.681G>C (n.681G>C) c.954G>C (p.Gln318His) c.1014G>C (p.Gln338His) n.890G>C c.936G>C (p.Gln312His) c.1206G>C (p.Gln402His) c.1215G>C (p.Gln405His) c.561G>C (p.Gln187His) c.1005G>C (p.Gln335His)
9	g.135765066G>T	CA375499938	KCNT1	c.1071G>T (p.Gln357His) c.912G>T (p.Gln304His) c.819G>T (p.Gln273His) c.828G>T (p.Gln276His) c.972G>T (p.Gln324His) c.681G>T (n.681G>T) c.954G>T (p.Gln318His) c.1014G>T (p.Gln338His) n.890G>T c.936G>T (p.Gln312His) c.1206G>T (p.Gln402His) c.1215G>T (p.Gln405His) c.561G>T (p.Gln187His) c.1005G>T (p.Gln335His)
9	g.135765067A>C	CA375499941	KCNT1	c.1072A>C (p.Lys358Gln) c.913A>C (p.Lys305Gln) c.820A>C (p.Lys274Gln) c.829A>C (p.Lys277Gln) c.973A>C (p.Lys325Gln) c.682A>C (n.682A>C) c.955A>C (p.Lys319Gln) c.1015A>C (p.Lys339Gln) n.891A>C c.937A>C (p.Lys313Gln) c.1207A>C (p.Lys403Gln) c.1216A>C (p.Lys406Gln) c.562A>C (p.Lys188Gln) c.1006A>C (p.Lys336Gln)
9	g.135765067A>G	CA375499944	KCNT1	c.1072A>G (p.Lys358Glu) c.913A>G (p.Lys305Glu) c.820A>G (p.Lys274Glu) c.829A>G (p.Lys277Glu) c.973A>G (p.Lys325Glu) c.682A>G (n.682A>G) c.955A>G (p.Lys319Glu) c.1015A>G (p.Lys339Glu) n.891A>G c.937A>G (p.Lys313Glu) c.1207A>G (p.Lys403Glu) c.1216A>G (p.Lys406Glu) c.562A>G (p.Lys188Glu) c.1006A>G (p.Lys336Glu)
9	g.135765067A>T	CA375499943	KCNT1	c.1072A>T (p.Lys358Ter) c.913A>T (p.Lys305Ter) c.820A>T (p.Lys274Ter) c.829A>T (p.Lys277Ter) c.973A>T (p.Lys325Ter) c.682A>T (n.682A>T) c.955A>T (p.Lys319Ter) c.1015A>T (p.Lys339Ter) n.891A>T c.937A>T (p.Lys313Ter) c.1207A>T (p.Lys403Ter) c.1216A>T (p.Lys406Ter) c.562A>T (p.Lys188Ter) c.1006A>T (p.Lys336Ter)
9	g.135765068A>C	CA375499946	KCNT1	c.1073A>C (p.Lys358Thr) c.914A>C (p.Lys305Thr) c.821A>C (p.Lys274Thr) c.830A>C (p.Lys277Thr) c.974A>C (p.Lys325Thr) c.683A>C (n.683A>C) c.956A>C (p.Lys319Thr) c.1016A>C (p.Lys339Thr) n.892A>C c.938A>C (p.Lys313Thr) c.1208A>C (p.Lys403Thr) c.1217A>C (p.Lys406Thr) c.563A>C (p.Lys188Thr) c.1007A>C (p.Lys336Thr)
9	g.135765068A>G	CA375499948	KCNT1	c.1073A>G (p.Lys358Arg) c.914A>G (p.Lys305Arg) c.821A>G (p.Lys274Arg) c.830A>G (p.Lys277Arg) c.974A>G (p.Lys325Arg) c.683A>G (n.683A>G) c.956A>G (p.Lys319Arg) c.1016A>G (p.Lys339Arg) n.892A>G c.938A>G (p.Lys313Arg) c.1208A>G (p.Lys403Arg) c.1217A>G (p.Lys406Arg) c.563A>G (p.Lys188Arg) c.1007A>G (p.Lys336Arg)	gnomAD v4
9	g.135765068A>T	CA375499950	KCNT1	c.1073A>T (p.Lys358Met) c.914A>T (p.Lys305Met) c.821A>T (p.Lys274Met) c.830A>T (p.Lys277Met) c.974A>T (p.Lys325Met) c.683A>T (n.683A>T) c.956A>T (p.Lys319Met) c.1016A>T (p.Lys339Met) n.892A>T c.938A>T (p.Lys313Met) c.1208A>T (p.Lys403Met) c.1217A>T (p.Lys406Met) c.563A>T (p.Lys188Met) c.1007A>T (p.Lys336Met)
9	g.135765069G>A	CA467698002	KCNT1	c.1074G>A (p.Lys358=) c.915G>A (p.Lys305=) c.822G>A (p.Lys274=) c.831G>A (p.Lys277=) c.975G>A (p.Lys325=) c.684G>A (n.684G>A) c.957G>A (p.Lys319=) c.1017G>A (p.Lys339=) n.893G>A c.939G>A (p.Lys313=) c.1209G>A (p.Lys403=) c.1218G>A (p.Lys406=) c.564G>A (p.Lys188=) c.1008G>A (p.Lys336=)	gnomAD v4
9	g.135765069G>C	CA375499952	KCNT1	c.1074G>C (p.Lys358Asn) c.915G>C (p.Lys305Asn) c.822G>C (p.Lys274Asn) c.831G>C (p.Lys277Asn) c.975G>C (p.Lys325Asn) c.684G>C (n.684G>C) c.957G>C (p.Lys319Asn) c.1017G>C (p.Lys339Asn) n.893G>C c.939G>C (p.Lys313Asn) c.1209G>C (p.Lys403Asn) c.1218G>C (p.Lys406Asn) c.564G>C (p.Lys188Asn) c.1008G>C (p.Lys336Asn)
9	g.135765069G>T	CA375499953	KCNT1	c.1074G>T (p.Lys358Asn) c.915G>T (p.Lys305Asn) c.822G>T (p.Lys274Asn) c.831G>T (p.Lys277Asn) c.975G>T (p.Lys325Asn) c.684G>T (n.684G>T) c.957G>T (p.Lys319Asn) c.1017G>T (p.Lys339Asn) n.893G>T c.939G>T (p.Lys313Asn) c.1209G>T (p.Lys403Asn) c.1218G>T (p.Lys406Asn) c.564G>T (p.Lys188Asn) c.1008G>T (p.Lys336Asn)
9	g.135765070T>A	CA375499956	KCNT1	c.1075T>A (p.Ser359Thr) c.916T>A (p.Ser306Thr) c.823T>A (p.Ser275Thr) c.832T>A (p.Ser278Thr) c.976T>A (p.Ser326Thr) c.685T>A (n.685T>A) c.958T>A (p.Ser320Thr) c.1018T>A (p.Ser340Thr) n.894T>A c.940T>A (p.Ser314Thr) c.1210T>A (p.Ser404Thr) c.1219T>A (p.Ser407Thr) c.565T>A (p.Ser189Thr) c.1009T>A (p.Ser337Thr)
9	g.135765070T>C	CA375499957	KCNT1	c.1075T>C (p.Ser359Pro) c.916T>C (p.Ser306Pro) c.823T>C (p.Ser275Pro) c.832T>C (p.Ser278Pro) c.976T>C (p.Ser326Pro) c.685T>C (n.685T>C) c.958T>C (p.Ser320Pro) c.1018T>C (p.Ser340Pro) n.894T>C c.940T>C (p.Ser314Pro) c.1210T>C (p.Ser404Pro) c.1219T>C (p.Ser407Pro) c.565T>C (p.Ser189Pro) c.1009T>C (p.Ser337Pro)	ClinVar
9	g.135765070T>G	CA375499959	KCNT1	c.1075T>G (p.Ser359Ala) c.916T>G (p.Ser306Ala) c.823T>G (p.Ser275Ala) c.832T>G (p.Ser278Ala) c.976T>G (p.Ser326Ala) c.685T>G (n.685T>G) c.958T>G (p.Ser320Ala) c.1018T>G (p.Ser340Ala) n.894T>G c.940T>G (p.Ser314Ala) c.1210T>G (p.Ser404Ala) c.1219T>G (p.Ser407Ala) c.565T>G (p.Ser189Ala) c.1009T>G (p.Ser337Ala)	dbSNP
9	g.135765070T=	CA1883866297	KCNT1	c.1075T= (p.Ser359=) c.916T= (p.Ser306=) c.823T= (p.Ser275=) c.832T= (p.Ser278=) c.976T= (p.Ser326=) c.685T= (n.685T=) c.958T= (p.Ser320=) c.1018T= (p.Ser340=) n.894T= c.940T= (p.Ser314=) c.1210T= (p.Ser404=) c.1219T= (p.Ser407=) c.565T= (p.Ser189=) c.1009T= (p.Ser337=)
9	g.135765071C>A	CA375499960	KCNT1	c.1076C>A (p.Ser359Ter) c.917C>A (p.Ser306Ter) c.824C>A (p.Ser275Ter) c.833C>A (p.Ser278Ter) c.977C>A (p.Ser326Ter) c.686C>A (n.686C>A) c.959C>A (p.Ser320Ter) c.1019C>A (p.Ser340Ter) n.895C>A c.941C>A (p.Ser314Ter) c.1211C>A (p.Ser404Ter) c.1220C>A (p.Ser407Ter) c.566C>A (p.Ser189Ter) c.1010C>A (p.Ser337Ter)
9	g.135765071C=	CA1883866299	KCNT1	c.1076C= (p.Ser359=) c.917C= (p.Ser306=) c.824C= (p.Ser275=) c.833C= (p.Ser278=) c.977C= (p.Ser326=) c.686C= (n.686C=) c.959C= (p.Ser320=) c.1019C= (p.Ser340=) n.895C= c.941C= (p.Ser314=) c.1211C= (p.Ser404=) c.1220C= (p.Ser407=) c.566C= (p.Ser189=) c.1010C= (p.Ser337=)
9	g.135765071C>G	CA375499961	KCNT1	c.1076C>G (p.Ser359Ter) c.917C>G (p.Ser306Ter) c.824C>G (p.Ser275Ter) c.833C>G (p.Ser278Ter) c.977C>G (p.Ser326Ter) c.686C>G (n.686C>G) c.959C>G (p.Ser320Ter) c.1019C>G (p.Ser340Ter) n.895C>G c.941C>G (p.Ser314Ter) c.1211C>G (p.Ser404Ter) c.1220C>G (p.Ser407Ter) c.566C>G (p.Ser189Ter) c.1010C>G (p.Ser337Ter)
9	g.135765071C>T	CA375499962	KCNT1	c.1076C>T (p.Ser359Leu) c.917C>T (p.Ser306Leu) c.824C>T (p.Ser275Leu) c.833C>T (p.Ser278Leu) c.977C>T (p.Ser326Leu) c.686C>T (n.686C>T) c.959C>T (p.Ser320Leu) c.1019C>T (p.Ser340Leu) n.895C>T c.941C>T (p.Ser314Leu) c.1211C>T (p.Ser404Leu) c.1220C>T (p.Ser407Leu) c.566C>T (p.Ser189Leu) c.1010C>T (p.Ser337Leu)	dbSNP gnomAD v3 gnomAD v4
9	g.135765071_135765073delinsCAG	CA1883866298	KCNT1	c.1076_1078delinsCAG (p.Ser359=) c.917_919delinsCAG (p.Ser306=) c.824_826delinsCAG (p.Ser275=) c.833_835delinsCAG (p.Ser278=) c.977_979delinsCAG (p.Ser326=) c.686_688delinsCAG (n.686_688delinsCAG) c.959_961delinsCAG (p.Ser320=) c.1019_1021delinsCAG (p.Ser340=) n.895_897delinsCAG c.941_943delinsCAG (p.Ser314=) c.1211_1213delinsCAG (p.Ser404=) c.1220_1222delinsCAG (p.Ser407=) c.566_568delinsCAG (p.Ser189=) c.1010_1012delinsCAG (p.Ser337=)
9	g.135765072del	CA2692516081	KCNT1	c.1077del (p.Gly361AlafsTer?) c.918del (p.Gly308AlafsTer?) c.825del (p.Gly277AlafsTer?) c.834del (p.Gly280AlafsTer?) c.978del (p.Gly328AlafsTer?) c.687del (n.687del) c.960del (p.Gly322AlafsTer?) c.1020del (p.Gly342AlafsTer?) n.896del c.942del (p.Gly316AlafsTer?) c.1212del (p.Gly406AlafsTer?) c.1221del (p.Gly409AlafsTer?) c.567del (p.Gly191AlafsTer?) c.1011del (p.Gly339AlafsTer?)	gnomAD v4
9	g.135765072A=	CA1883866301	KCNT1	c.1077A= (p.Ser359=) c.918A= (p.Ser306=) c.825A= (p.Ser275=) c.834A= (p.Ser278=) c.978A= (p.Ser326=) c.687A= (n.687A=) c.960A= (p.Ser320=) c.1020A= (p.Ser340=) n.896A= c.942A= (p.Ser314=) c.1212A= (p.Ser404=) c.1221A= (p.Ser407=) c.567A= (p.Ser189=) c.1011A= (p.Ser337=)
9	g.135765072A>C	CA467698009	KCNT1	c.1077A>C (p.Ser359=) c.918A>C (p.Ser306=) c.825A>C (p.Ser275=) c.834A>C (p.Ser278=) c.978A>C (p.Ser326=) c.687A>C (n.687A>C) c.960A>C (p.Ser320=) c.1020A>C (p.Ser340=) n.896A>C c.942A>C (p.Ser314=) c.1212A>C (p.Ser404=) c.1221A>C (p.Ser407=) c.567A>C (p.Ser189=) c.1011A>C (p.Ser337=)
9	g.135765072A>G	CA5326768	KCNT1	c.1077A>G (p.Ser359=) c.918A>G (p.Ser306=) c.825A>G (p.Ser275=) c.834A>G (p.Ser278=) c.978A>G (p.Ser326=) c.687A>G (n.687A>G) c.960A>G (p.Ser320=) c.1020A>G (p.Ser340=) n.896A>G c.942A>G (p.Ser314=) c.1212A>G (p.Ser404=) c.1221A>G (p.Ser407=) c.567A>G (p.Ser189=) c.1011A>G (p.Ser337=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765072A>T	CA467698007	KCNT1	c.1077A>T (p.Ser359=) c.918A>T (p.Ser306=) c.825A>T (p.Ser275=) c.834A>T (p.Ser278=) c.978A>T (p.Ser326=) c.687A>T (n.687A>T) c.960A>T (p.Ser320=) c.1020A>T (p.Ser340=) n.896A>T c.942A>T (p.Ser314=) c.1212A>T (p.Ser404=) c.1221A>T (p.Ser407=) c.567A>T (p.Ser189=) c.1011A>T (p.Ser337=)
9	g.135765072_135765073del	CA5326765	KCNT1	c.1077_1078del (p.Gly361GlnfsTer?) c.918_919del (p.Gly308GlnfsTer?) c.825_826del (p.Gly277GlnfsTer?) c.834_835del (p.Gly280GlnfsTer?) c.978_979del (p.Gly328GlnfsTer?) c.687_688del (n.687_688del) c.960_961del (p.Gly322GlnfsTer?) c.1020_1021del (p.Gly342GlnfsTer?) n.896_897del c.942_943del (p.Gly316GlnfsTer?) c.1212_1213del (p.Gly406GlnfsTer?) c.1221_1222del (p.Gly409GlnfsTer?) c.567_568del (p.Gly191GlnfsTer?) c.1011_1012del (p.Gly339GlnfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.135765072_135765073delinsAG	CA1883866300	KCNT1	c.1077_1078delinsAG (p.Ser359=) c.918_919delinsAG (p.Ser306=) c.825_826delinsAG (p.Ser275=) c.834_835delinsAG (p.Ser278=) c.978_979delinsAG (p.Ser326=) c.687_688delinsAG (n.687_688delinsAG) c.960_961delinsAG (p.Ser320=) c.1020_1021delinsAG (p.Ser340=) n.896_897delinsAG c.942_943delinsAG (p.Ser314=) c.1212_1213delinsAG (p.Ser404=) c.1221_1222delinsAG (p.Ser407=) c.567_568delinsAG (p.Ser189=) c.1011_1012delinsAG (p.Ser337=)
9	g.135765072_135765074del	CA2579510779	KCNT1	c.1077_1079del (p.Gly360del) c.918_920del (p.Gly307del) c.825_827del (p.Gly276del) c.834_836del (p.Gly279del) c.978_980del (p.Gly327del) c.687_689del (n.687_689del) c.960_962del (p.Gly321del) c.1020_1022del (p.Gly341del) n.896_898del c.942_944del (p.Gly315del) c.1212_1214del (p.Gly405del) c.1221_1223del (p.Gly408del) c.567_569del (p.Gly190del) c.1011_1013del (p.Gly338del)
9	g.135765072_135765073insAG	CA201465130	KCNT1	c.1077_1078insAG (p.Gly360ArgfsTer?) c.918_919insAG (p.Gly307ArgfsTer?) c.825_826insAG (p.Gly276ArgfsTer?) c.834_835insAG (p.Gly279ArgfsTer?) c.978_979insAG (p.Gly327ArgfsTer?) c.687_688insAG (n.687_688insAG) c.960_961insAG (p.Gly321ArgfsTer?) c.1020_1021insAG (p.Gly341ArgfsTer?) n.896_897insAG c.942_943insAG (p.Gly315ArgfsTer?) c.1212_1213insAG (p.Gly405ArgfsTer?) c.1221_1222insAG (p.Gly408ArgfsTer?) c.567_568insAG (p.Gly190ArgfsTer?) c.1011_1012insAG (p.Gly338ArgfsTer?)
9	g.135765073G>A	CA375499963	KCNT1	c.1078G>A (p.Gly360Arg) c.919G>A (p.Gly307Arg) c.826G>A (p.Gly276Arg) c.835G>A (p.Gly279Arg) c.979G>A (p.Gly327Arg) c.688G>A (n.688G>A) c.961G>A (p.Gly321Arg) c.1021G>A (p.Gly341Arg) n.897G>A c.943G>A (p.Gly315Arg) c.1213G>A (p.Gly405Arg) c.1222G>A (p.Gly408Arg) c.568G>A (p.Gly190Arg) c.1012G>A (p.Gly338Arg)
9	g.135765073G>C	CA375499964	KCNT1	c.1078G>C (p.Gly360Arg) c.919G>C (p.Gly307Arg) c.826G>C (p.Gly276Arg) c.835G>C (p.Gly279Arg) c.979G>C (p.Gly327Arg) c.688G>C (n.688G>C) c.961G>C (p.Gly321Arg) c.1021G>C (p.Gly341Arg) n.897G>C c.943G>C (p.Gly315Arg) c.1213G>C (p.Gly405Arg) c.1222G>C (p.Gly408Arg) c.568G>C (p.Gly190Arg) c.1012G>C (p.Gly338Arg)
9	g.135765073G>T	CA375499965	KCNT1	c.1078G>T (p.Gly360Trp) c.919G>T (p.Gly307Trp) c.826G>T (p.Gly276Trp) c.835G>T (p.Gly279Trp) c.979G>T (p.Gly327Trp) c.688G>T (n.688G>T) c.961G>T (p.Gly321Trp) c.1021G>T (p.Gly341Trp) n.897G>T c.943G>T (p.Gly315Trp) c.1213G>T (p.Gly405Trp) c.1222G>T (p.Gly408Trp) c.568G>T (p.Gly190Trp) c.1012G>T (p.Gly338Trp)
9	g.135765077dup	CA5326766	KCNT1	c.1082dup (p.Asn362GlnfsTer?) c.923dup (p.Asn309GlnfsTer?) c.830dup (p.Asn278GlnfsTer?) c.839dup (p.Asn281GlnfsTer?) c.983dup (p.Asn329GlnfsTer?) c.692dup (n.692dup) c.965dup (p.Asn323GlnfsTer?) c.1025dup (p.Asn343GlnfsTer?) n.901dup c.947dup (p.Asn317GlnfsTer?) c.1217dup (p.Asn407GlnfsTer?) c.1226dup (p.Asn410GlnfsTer?) c.572dup (p.Asn192GlnfsTer?) c.1016dup (p.Asn340GlnfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
9	g.135765077del	CA5326767	KCNT1	c.1082del (p.Gly361AlafsTer30) c.923del (p.Gly308AlafsTer30) c.830del (p.Gly277AlafsTer30) c.839del (p.Gly280AlafsTer30) c.983del (p.Gly328AlafsTer30) c.692del (n.692del) c.965del (p.Gly322AlafsTer30) c.1025del (p.Gly342AlafsTer30) n.901del c.947del (p.Gly316AlafsTer30) c.1217del (p.Gly406AlafsTer30) c.1226del (p.Gly409AlafsTer30) c.572del (p.Gly191AlafsTer30) c.1016del (p.Gly339AlafsTer30)	dbSNP ExAC gnomAD v2
9	g.135765074G>A	CA375499966	KCNT1	c.1079G>A (p.Gly360Glu) c.920G>A (p.Gly307Glu) c.827G>A (p.Gly276Glu) c.836G>A (p.Gly279Glu) c.980G>A (p.Gly327Glu) c.689G>A (n.689G>A) c.962G>A (p.Gly321Glu) c.1022G>A (p.Gly341Glu) n.898G>A c.944G>A (p.Gly315Glu) c.1214G>A (p.Gly405Glu) c.1223G>A (p.Gly408Glu) c.569G>A (p.Gly190Glu) c.1013G>A (p.Gly338Glu)
9	g.135765074G>C	CA375499967	KCNT1	c.1079G>C (p.Gly360Ala) c.920G>C (p.Gly307Ala) c.827G>C (p.Gly276Ala) c.836G>C (p.Gly279Ala) c.980G>C (p.Gly327Ala) c.689G>C (n.689G>C) c.962G>C (p.Gly321Ala) c.1022G>C (p.Gly341Ala) n.898G>C c.944G>C (p.Gly315Ala) c.1214G>C (p.Gly405Ala) c.1223G>C (p.Gly408Ala) c.569G>C (p.Gly190Ala) c.1013G>C (p.Gly338Ala)
9	g.135765074G>T	CA375499968	KCNT1	c.1079G>T (p.Gly360Val) c.920G>T (p.Gly307Val) c.827G>T (p.Gly276Val) c.836G>T (p.Gly279Val) c.980G>T (p.Gly327Val) c.689G>T (n.689G>T) c.962G>T (p.Gly321Val) c.1022G>T (p.Gly341Val) n.898G>T c.944G>T (p.Gly315Val) c.1214G>T (p.Gly405Val) c.1223G>T (p.Gly408Val) c.569G>T (p.Gly190Val) c.1013G>T (p.Gly338Val)
9	g.135765075G>A	CA467698013	KCNT1	c.1080G>A (p.Gly360=) c.921G>A (p.Gly307=) c.828G>A (p.Gly276=) c.837G>A (p.Gly279=) c.981G>A (p.Gly327=) c.690G>A (n.690G>A) c.963G>A (p.Gly321=) c.1023G>A (p.Gly341=) n.899G>A c.945G>A (p.Gly315=) c.1215G>A (p.Gly405=) c.1224G>A (p.Gly408=) c.570G>A (p.Gly190=) c.1014G>A (p.Gly338=)	dbSNP
9	g.135765075G>C	CA467698015	KCNT1	c.1080G>C (p.Gly360=) c.921G>C (p.Gly307=) c.828G>C (p.Gly276=) c.837G>C (p.Gly279=) c.981G>C (p.Gly327=) c.690G>C (n.690G>C) c.963G>C (p.Gly321=) c.1023G>C (p.Gly341=) n.899G>C c.945G>C (p.Gly315=) c.1215G>C (p.Gly405=) c.1224G>C (p.Gly408=) c.570G>C (p.Gly190=) c.1014G>C (p.Gly338=)
9	g.135765075G=	CA1883866302	KCNT1	c.1080G= (p.Gly360=) c.921G= (p.Gly307=) c.828G= (p.Gly276=) c.837G= (p.Gly279=) c.981G= (p.Gly327=) c.690G= (n.690G=) c.963G= (p.Gly321=) c.1023G= (p.Gly341=) n.899G= c.945G= (p.Gly315=) c.1215G= (p.Gly405=) c.1224G= (p.Gly408=) c.570G= (p.Gly190=) c.1014G= (p.Gly338=)
9	g.135765075G>T	CA467698016	KCNT1	c.1080G>T (p.Gly360=) c.921G>T (p.Gly307=) c.828G>T (p.Gly276=) c.837G>T (p.Gly279=) c.981G>T (p.Gly327=) c.690G>T (n.690G>T) c.963G>T (p.Gly321=) c.1023G>T (p.Gly341=) n.899G>T c.945G>T (p.Gly315=) c.1215G>T (p.Gly405=) c.1224G>T (p.Gly408=) c.570G>T (p.Gly190=) c.1014G>T (p.Gly338=)
9	g.135765076G>A	CA375499969	KCNT1	c.1081G>A (p.Gly361Ser) c.922G>A (p.Gly308Ser) c.829G>A (p.Gly277Ser) c.838G>A (p.Gly280Ser) c.982G>A (p.Gly328Ser) c.691G>A (n.691G>A) c.964G>A (p.Gly322Ser) c.1024G>A (p.Gly342Ser) n.900G>A c.946G>A (p.Gly316Ser) c.1216G>A (p.Gly406Ser) c.1225G>A (p.Gly409Ser) c.571G>A (p.Gly191Ser) c.1015G>A (p.Gly339Ser)	ClinVar
9	g.135765076G>C	CA375499971	KCNT1	c.1081G>C (p.Gly361Arg) c.922G>C (p.Gly308Arg) c.829G>C (p.Gly277Arg) c.838G>C (p.Gly280Arg) c.982G>C (p.Gly328Arg) c.691G>C (n.691G>C) c.964G>C (p.Gly322Arg) c.1024G>C (p.Gly342Arg) n.900G>C c.946G>C (p.Gly316Arg) c.1216G>C (p.Gly406Arg) c.1225G>C (p.Gly409Arg) c.571G>C (p.Gly191Arg) c.1015G>C (p.Gly339Arg)
9	g.135765076G>T	CA375499972	KCNT1	c.1081G>T (p.Gly361Cys) c.922G>T (p.Gly308Cys) c.829G>T (p.Gly277Cys) c.838G>T (p.Gly280Cys) c.982G>T (p.Gly328Cys) c.691G>T (n.691G>T) c.964G>T (p.Gly322Cys) c.1024G>T (p.Gly342Cys) n.900G>T c.946G>T (p.Gly316Cys) c.1216G>T (p.Gly406Cys) c.1225G>T (p.Gly409Cys) c.571G>T (p.Gly191Cys) c.1015G>T (p.Gly339Cys)	COSMIC COSMIC
9	g.135765077G>A	CA375499976	KCNT1	c.1082G>A (p.Gly361Asp) c.923G>A (p.Gly308Asp) c.830G>A (p.Gly277Asp) c.839G>A (p.Gly280Asp) c.983G>A (p.Gly328Asp) c.692G>A (n.692G>A) c.965G>A (p.Gly322Asp) c.1025G>A (p.Gly342Asp) n.901G>A c.947G>A (p.Gly316Asp) c.1217G>A (p.Gly406Asp) c.1226G>A (p.Gly409Asp) c.572G>A (p.Gly191Asp) c.1016G>A (p.Gly339Asp)	gnomAD v4
9	g.135765077G>C	CA375499978	KCNT1	c.1082G>C (p.Gly361Ala) c.923G>C (p.Gly308Ala) c.830G>C (p.Gly277Ala) c.839G>C (p.Gly280Ala) c.983G>C (p.Gly328Ala) c.692G>C (n.692G>C) c.965G>C (p.Gly322Ala) c.1025G>C (p.Gly342Ala) n.901G>C c.947G>C (p.Gly316Ala) c.1217G>C (p.Gly406Ala) c.1226G>C (p.Gly409Ala) c.572G>C (p.Gly191Ala) c.1016G>C (p.Gly339Ala)
9	g.135765077G>T	CA375499974	KCNT1	c.1082G>T (p.Gly361Val) c.923G>T (p.Gly308Val) c.830G>T (p.Gly277Val) c.839G>T (p.Gly280Val) c.983G>T (p.Gly328Val) c.692G>T (n.692G>T) c.965G>T (p.Gly322Val) c.1025G>T (p.Gly342Val) n.901G>T c.947G>T (p.Gly316Val) c.1217G>T (p.Gly406Val) c.1226G>T (p.Gly409Val) c.572G>T (p.Gly191Val) c.1016G>T (p.Gly339Val)
9	g.135765078C>A	CA467698018	KCNT1	c.1083C>A (p.Gly361=) c.924C>A (p.Gly308=) c.831C>A (p.Gly277=) c.840C>A (p.Gly280=) c.984C>A (p.Gly328=) c.693C>A (n.693C>A) c.966C>A (p.Gly322=) c.1026C>A (p.Gly342=) n.902C>A c.948C>A (p.Gly316=) c.1218C>A (p.Gly406=) c.1227C>A (p.Gly409=) c.573C>A (p.Gly191=) c.1017C>A (p.Gly339=)	dbSNP
9	g.135765078C=	CA1883866303	KCNT1	c.1083C= (p.Gly361=) c.924C= (p.Gly308=) c.831C= (p.Gly277=) c.840C= (p.Gly280=) c.984C= (p.Gly328=) c.693C= (n.693C=) c.966C= (p.Gly322=) c.1026C= (p.Gly342=) n.902C= c.948C= (p.Gly316=) c.1218C= (p.Gly406=) c.1227C= (p.Gly409=) c.573C= (p.Gly191=) c.1017C= (p.Gly339=)
9	g.135765078C>G	CA467698020	KCNT1	c.1083C>G (p.Gly361=) c.924C>G (p.Gly308=) c.831C>G (p.Gly277=) c.840C>G (p.Gly280=) c.984C>G (p.Gly328=) c.693C>G (n.693C>G) c.966C>G (p.Gly322=) c.1026C>G (p.Gly342=) n.902C>G c.948C>G (p.Gly316=) c.1218C>G (p.Gly406=) c.1227C>G (p.Gly409=) c.573C>G (p.Gly191=) c.1017C>G (p.Gly339=)
9	g.135765078C>T	CA467698019	KCNT1	c.1083C>T (p.Gly361=) c.924C>T (p.Gly308=) c.831C>T (p.Gly277=) c.840C>T (p.Gly280=) c.984C>T (p.Gly328=) c.693C>T (n.693C>T) c.966C>T (p.Gly322=) c.1026C>T (p.Gly342=) n.902C>T c.948C>T (p.Gly316=) c.1218C>T (p.Gly406=) c.1227C>T (p.Gly409=) c.573C>T (p.Gly191=) c.1017C>T (p.Gly339=)	ClinVar dbSNP gnomAD v4
9	g.135765079A>C	CA375499980	KCNT1	c.1084A>C (p.Asn362His) c.925A>C (p.Asn309His) c.832A>C (p.Asn278His) c.841A>C (p.Asn281His) c.985A>C (p.Asn329His) c.694A>C (n.694A>C) c.967A>C (p.Asn323His) c.1027A>C (p.Asn343His) n.903A>C c.949A>C (p.Asn317His) c.1219A>C (p.Asn407His) c.1228A>C (p.Asn410His) c.574A>C (p.Asn192His) c.1018A>C (p.Asn340His)	gnomAD v4
9	g.135765079A>G	CA375499982	KCNT1	c.1084A>G (p.Asn362Asp) c.925A>G (p.Asn309Asp) c.832A>G (p.Asn278Asp) c.841A>G (p.Asn281Asp) c.985A>G (p.Asn329Asp) c.694A>G (n.694A>G) c.967A>G (p.Asn323Asp) c.1027A>G (p.Asn343Asp) n.903A>G c.949A>G (p.Asn317Asp) c.1219A>G (p.Asn407Asp) c.1228A>G (p.Asn410Asp) c.574A>G (p.Asn192Asp) c.1018A>G (p.Asn340Asp)
9	g.135765079A>T	CA375499984	KCNT1	c.1084A>T (p.Asn362Tyr) c.925A>T (p.Asn309Tyr) c.832A>T (p.Asn278Tyr) c.841A>T (p.Asn281Tyr) c.985A>T (p.Asn329Tyr) c.694A>T (n.694A>T) c.967A>T (p.Asn323Tyr) c.1027A>T (p.Asn343Tyr) n.903A>T c.949A>T (p.Asn317Tyr) c.1219A>T (p.Asn407Tyr) c.1228A>T (p.Asn410Tyr) c.574A>T (p.Asn192Tyr) c.1018A>T (p.Asn340Tyr)
9	g.135765080A>C	CA375499985	KCNT1	c.1085A>C (p.Asn362Thr) c.926A>C (p.Asn309Thr) c.833A>C (p.Asn278Thr) c.842A>C (p.Asn281Thr) c.986A>C (p.Asn329Thr) c.695A>C (n.695A>C) c.968A>C (p.Asn323Thr) c.1028A>C (p.Asn343Thr) n.904A>C c.950A>C (p.Asn317Thr) c.1220A>C (p.Asn407Thr) c.1229A>C (p.Asn410Thr) c.575A>C (p.Asn192Thr) c.1019A>C (p.Asn340Thr)
9	g.135765080A>G	CA375499987	KCNT1	c.1085A>G (p.Asn362Ser) c.926A>G (p.Asn309Ser) c.833A>G (p.Asn278Ser) c.842A>G (p.Asn281Ser) c.986A>G (p.Asn329Ser) c.695A>G (n.695A>G) c.968A>G (p.Asn323Ser) c.1028A>G (p.Asn343Ser) n.904A>G c.950A>G (p.Asn317Ser) c.1220A>G (p.Asn407Ser) c.1229A>G (p.Asn410Ser) c.575A>G (p.Asn192Ser) c.1019A>G (p.Asn340Ser)
9	g.135765080A>T	CA375499989	KCNT1	c.1085A>T (p.Asn362Ile) c.926A>T (p.Asn309Ile) c.833A>T (p.Asn278Ile) c.842A>T (p.Asn281Ile) c.986A>T (p.Asn329Ile) c.695A>T (n.695A>T) c.968A>T (p.Asn323Ile) c.1028A>T (p.Asn343Ile) n.904A>T c.950A>T (p.Asn317Ile) c.1220A>T (p.Asn407Ile) c.1229A>T (p.Asn410Ile) c.575A>T (p.Asn192Ile) c.1019A>T (p.Asn340Ile)
9	g.135765081C>A	CA375499991	KCNT1	c.1086C>A (p.Asn362Lys) c.927C>A (p.Asn309Lys) c.834C>A (p.Asn278Lys) c.843C>A (p.Asn281Lys) c.987C>A (p.Asn329Lys) c.696C>A (n.696C>A) c.969C>A (p.Asn323Lys) c.1029C>A (p.Asn343Lys) n.905C>A c.951C>A (p.Asn317Lys) c.1221C>A (p.Asn407Lys) c.1230C>A (p.Asn410Lys) c.576C>A (p.Asn192Lys) c.1020C>A (p.Asn340Lys)
9	g.135765081C>G	CA375499992	KCNT1	c.1086C>G (p.Asn362Lys) c.927C>G (p.Asn309Lys) c.834C>G (p.Asn278Lys) c.843C>G (p.Asn281Lys) c.987C>G (p.Asn329Lys) c.696C>G (n.696C>G) c.969C>G (p.Asn323Lys) c.1029C>G (p.Asn343Lys) n.905C>G c.951C>G (p.Asn317Lys) c.1221C>G (p.Asn407Lys) c.1230C>G (p.Asn410Lys) c.576C>G (p.Asn192Lys) c.1020C>G (p.Asn340Lys)
9	g.135765081C>T	CA467698021	KCNT1	c.1086C>T (p.Asn362=) c.927C>T (p.Asn309=) c.834C>T (p.Asn278=) c.843C>T (p.Asn281=) c.987C>T (p.Asn329=) c.696C>T (n.696C>T) c.969C>T (p.Asn323=) c.1029C>T (p.Asn343=) n.905C>T c.951C>T (p.Asn317=) c.1221C>T (p.Asn407=) c.1230C>T (p.Asn410=) c.576C>T (p.Asn192=) c.1020C>T (p.Asn340=)
9	g.135765082T>A	CA375499995	KCNT1	c.1087T>A (p.Tyr363Asn) c.928T>A (p.Tyr310Asn) c.835T>A (p.Tyr279Asn) c.844T>A (p.Tyr282Asn) c.988T>A (p.Tyr330Asn) c.697T>A (n.697T>A) c.970T>A (p.Tyr324Asn) c.1030T>A (p.Tyr344Asn) n.906T>A c.952T>A (p.Tyr318Asn) c.1222T>A (p.Tyr408Asn) c.1231T>A (p.Tyr411Asn) c.577T>A (p.Tyr193Asn) c.1021T>A (p.Tyr341Asn)
9	g.135765082T>C	CA375499996	KCNT1	c.1087T>C (p.Tyr363His) c.928T>C (p.Tyr310His) c.835T>C (p.Tyr279His) c.844T>C (p.Tyr282His) c.988T>C (p.Tyr330His) c.697T>C (n.697T>C) c.970T>C (p.Tyr324His) c.1030T>C (p.Tyr344His) n.906T>C c.952T>C (p.Tyr318His) c.1222T>C (p.Tyr408His) c.1231T>C (p.Tyr411His) c.577T>C (p.Tyr193His) c.1021T>C (p.Tyr341His)
9	g.135765082T>G	CA375499998	KCNT1	c.1087T>G (p.Tyr363Asp) c.928T>G (p.Tyr310Asp) c.835T>G (p.Tyr279Asp) c.844T>G (p.Tyr282Asp) c.988T>G (p.Tyr330Asp) c.697T>G (n.697T>G) c.970T>G (p.Tyr324Asp) c.1030T>G (p.Tyr344Asp) n.906T>G c.952T>G (p.Tyr318Asp) c.1222T>G (p.Tyr408Asp) c.1231T>G (p.Tyr411Asp) c.577T>G (p.Tyr193Asp) c.1021T>G (p.Tyr341Asp)	gnomAD v4
9	g.135765083A>C	CA375500000	KCNT1	c.1088A>C (p.Tyr363Ser) c.929A>C (p.Tyr310Ser) c.836A>C (p.Tyr279Ser) c.845A>C (p.Tyr282Ser) c.989A>C (p.Tyr330Ser) c.698A>C (n.698A>C) c.971A>C (p.Tyr324Ser) c.1031A>C (p.Tyr344Ser) n.907A>C c.953A>C (p.Tyr318Ser) c.1223A>C (p.Tyr408Ser) c.1232A>C (p.Tyr411Ser) c.578A>C (p.Tyr193Ser) c.1022A>C (p.Tyr341Ser)
9	g.135765083A>G	CA375500002	KCNT1	c.1088A>G (p.Tyr363Cys) c.929A>G (p.Tyr310Cys) c.836A>G (p.Tyr279Cys) c.845A>G (p.Tyr282Cys) c.989A>G (p.Tyr330Cys) c.698A>G (n.698A>G) c.971A>G (p.Tyr324Cys) c.1031A>G (p.Tyr344Cys) n.907A>G c.953A>G (p.Tyr318Cys) c.1223A>G (p.Tyr408Cys) c.1232A>G (p.Tyr411Cys) c.578A>G (p.Tyr193Cys) c.1022A>G (p.Tyr341Cys)
9	g.135765083A>T	CA375500004	KCNT1	c.1088A>T (p.Tyr363Phe) c.929A>T (p.Tyr310Phe) c.836A>T (p.Tyr279Phe) c.845A>T (p.Tyr282Phe) c.989A>T (p.Tyr330Phe) c.698A>T (n.698A>T) c.971A>T (p.Tyr324Phe) c.1031A>T (p.Tyr344Phe) n.907A>T c.953A>T (p.Tyr318Phe) c.1223A>T (p.Tyr408Phe) c.1232A>T (p.Tyr411Phe) c.578A>T (p.Tyr193Phe) c.1022A>T (p.Tyr341Phe)
9	g.135765084C>A	CA375500009	KCNT1	c.1089C>A (p.Tyr363Ter) c.930C>A (p.Tyr310Ter) c.837C>A (p.Tyr279Ter) c.846C>A (p.Tyr282Ter) c.990C>A (p.Tyr330Ter) c.699C>A (n.699C>A) c.972C>A (p.Tyr324Ter) c.1032C>A (p.Tyr344Ter) n.908C>A c.954C>A (p.Tyr318Ter) c.1224C>A (p.Tyr408Ter) c.1233C>A (p.Tyr411Ter) c.579C>A (p.Tyr193Ter) c.1023C>A (p.Tyr341Ter)
9	g.135765084C=	CA1883866304	KCNT1	c.1089C= (p.Tyr363=) c.930C= (p.Tyr310=) c.837C= (p.Tyr279=) c.846C= (p.Tyr282=) c.990C= (p.Tyr330=) c.699C= (n.699C=) c.972C= (p.Tyr324=) c.1032C= (p.Tyr344=) n.908C= c.954C= (p.Tyr318=) c.1224C= (p.Tyr408=) c.1233C= (p.Tyr411=) c.579C= (p.Tyr193=) c.1023C= (p.Tyr341=)
9	g.135765084C>G	CA375500007	KCNT1	c.1089C>G (p.Tyr363Ter) c.930C>G (p.Tyr310Ter) c.837C>G (p.Tyr279Ter) c.846C>G (p.Tyr282Ter) c.990C>G (p.Tyr330Ter) c.699C>G (n.699C>G) c.972C>G (p.Tyr324Ter) c.1032C>G (p.Tyr344Ter) n.908C>G c.954C>G (p.Tyr318Ter) c.1224C>G (p.Tyr408Ter) c.1233C>G (p.Tyr411Ter) c.579C>G (p.Tyr193Ter) c.1023C>G (p.Tyr341Ter)
9	g.135765084C>T	CA467698023	KCNT1	c.1089C>T (p.Tyr363=) c.930C>T (p.Tyr310=) c.837C>T (p.Tyr279=) c.846C>T (p.Tyr282=) c.990C>T (p.Tyr330=) c.699C>T (n.699C>T) c.972C>T (p.Tyr324=) c.1032C>T (p.Tyr344=) n.908C>T c.954C>T (p.Tyr318=) c.1224C>T (p.Tyr408=) c.1233C>T (p.Tyr411=) c.579C>T (p.Tyr193=) c.1023C>T (p.Tyr341=)	ClinVar dbSNP gnomAD v4
9	g.135765085A>C	CA375500011	KCNT1	c.1090A>C (p.Ser364Arg) c.931A>C (p.Ser311Arg) c.838A>C (p.Ser280Arg) c.847A>C (p.Ser283Arg) c.991A>C (p.Ser331Arg) c.700A>C (n.700A>C) c.973A>C (p.Ser325Arg) c.1033A>C (p.Ser345Arg) n.909A>C c.955A>C (p.Ser319Arg) c.1225A>C (p.Ser409Arg) c.1234A>C (p.Ser412Arg) c.580A>C (p.Ser194Arg) c.1024A>C (p.Ser342Arg)
9	g.135765085A>G	CA375500015	KCNT1	c.1090A>G (p.Ser364Gly) c.931A>G (p.Ser311Gly) c.838A>G (p.Ser280Gly) c.847A>G (p.Ser283Gly) c.991A>G (p.Ser331Gly) c.700A>G (n.700A>G) c.973A>G (p.Ser325Gly) c.1033A>G (p.Ser345Gly) n.909A>G c.955A>G (p.Ser319Gly) c.1225A>G (p.Ser409Gly) c.1234A>G (p.Ser412Gly) c.580A>G (p.Ser194Gly) c.1024A>G (p.Ser342Gly)	gnomAD v4
9	g.135765085A>T	CA375500013	KCNT1	c.1090A>T (p.Ser364Cys) c.931A>T (p.Ser311Cys) c.838A>T (p.Ser280Cys) c.847A>T (p.Ser283Cys) c.991A>T (p.Ser331Cys) c.700A>T (n.700A>T) c.973A>T (p.Ser325Cys) c.1033A>T (p.Ser345Cys) n.909A>T c.955A>T (p.Ser319Cys) c.1225A>T (p.Ser409Cys) c.1234A>T (p.Ser412Cys) c.580A>T (p.Ser194Cys) c.1024A>T (p.Ser342Cys)

Number of alleles fetched