Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044878A>C	CA383465044	KCNA5	c.731A>C (p.Glu244Ala)
12	g.5044878A>G	CA383465045	KCNA5	c.731A>G (p.Glu244Gly)
12	g.5044878A>T	CA383465046	KCNA5	c.731A>T (p.Glu244Val)
12	g.5044879G>A	CA478095334	KCNA5	c.732G>A (p.Glu244=)
12	g.5044879G>C	CA383465047	KCNA5	c.732G>C (p.Glu244Asp)
12	g.5044879G>T	CA383465048	KCNA5	c.732G>T (p.Glu244Asp)
12	g.5044880A=	CA2013430933	KCNA5	c.733A= (p.Ser245=)
12	g.5044880A>C	CA383465049	KCNA5	c.733A>C (p.Ser245Arg)
12	g.5044880A>G	CA6399706	KCNA5	c.733A>G (p.Ser245Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044880A>T	CA383465050	KCNA5	c.733A>T (p.Ser245Cys)
12	g.5044881G>A	CA383465051	KCNA5	c.734G>A (p.Ser245Asn)
12	g.5044881G>C	CA383465052	KCNA5	c.734G>C (p.Ser245Thr)
12	g.5044881G>T	CA383465053	KCNA5	c.734G>T (p.Ser245Ile)
12	g.5044882C>A	CA383465054	KCNA5	c.735C>A (p.Ser245Arg)
12	g.5044882C=	CA2013430934	KCNA5	c.735C= (p.Ser245=)
12	g.5044882C>G	CA383465055	KCNA5	c.735C>G (p.Ser245Arg)
12	g.5044882C>T	CA6399707	KCNA5	c.735C>T (p.Ser245=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044883T>A	CA383465056	KCNA5	c.736T>A (p.Ser246Thr)
12	g.5044883T>C	CA383465057	KCNA5	c.736T>C (p.Ser246Pro)	COSMIC
12	g.5044883T>G	CA383465058	KCNA5	c.736T>G (p.Ser246Ala)
12	g.5044884C>A	CA383465060	KCNA5	c.737C>A (p.Ser246Tyr)
12	g.5044884C>G	CA383465061	KCNA5	c.737C>G (p.Ser246Cys)
12	g.5044884C>T	CA383465059	KCNA5	c.737C>T (p.Ser246Phe)
12	g.5044885T>A	CA478095342	KCNA5	c.738T>A (p.Ser246=)
12	g.5044885T>C	CA478095343	KCNA5	c.738T>C (p.Ser246=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044885T>G	CA478095341	KCNA5	c.738T>G (p.Ser246=)
12	g.5044885T=	CA2013430935	KCNA5	c.738T= (p.Ser246=)
12	g.5044886G>A	CA383465063	KCNA5	c.739G>A (p.Gly247Arg)	dbSNP
12	g.5044886G>C	CA383465062	KCNA5	c.739G>C (p.Gly247Arg)	gnomAD v4
12	g.5044886G=	CA2013430936	KCNA5	c.739G= (p.Gly247=)
12	g.5044886G>T	CA383465064	KCNA5	c.739G>T (p.Gly247Trp)
12	g.5044887G>A	CA383465065	KCNA5	c.740G>A (p.Gly247Glu)	dbSNP gnomAD v4
12	g.5044887G>C	CA383465066	KCNA5	c.740G>C (p.Gly247Ala)
12	g.5044887G=	CA2013430937	KCNA5	c.740G= (p.Gly247=)
12	g.5044887G>T	CA383465067	KCNA5	c.740G>T (p.Gly247Val)	COSMIC
12	g.5044888G>A	CA478095347	KCNA5	c.741G>A (p.Gly247=)
12	g.5044888G>C	CA478095348	KCNA5	c.741G>C (p.Gly247=)	ClinVar dbSNP gnomAD v4
12	g.5044888G>T	CA478095349	KCNA5	c.741G>T (p.Gly247=)
12	g.5044889T>A	CA383465068	KCNA5	c.742T>A (p.Ser248Thr)
12	g.5044889T>C	CA231867731	KCNA5	c.742T>C (p.Ser248Pro)	dbSNP
12	g.5044889T>G	CA383465069	KCNA5	c.742T>G (p.Ser248Ala)
12	g.5044889T=	CA2013430938	KCNA5	c.742T= (p.Ser248=)
12	g.5044890C>A	CA383465070	KCNA5	c.743C>A (p.Ser248Tyr)
12	g.5044890C=	CA2013430940	KCNA5	c.743C= (p.Ser248=)
12	g.5044890C>G	CA383465071	KCNA5	c.743C>G (p.Ser248Cys)	gnomAD v4
12	g.5044890C>T	CA383465072	KCNA5	c.743C>T (p.Ser248Phe)	dbSNP COSMIC
12	g.5044890_5044892delinsCCG	CA2013430939	KCNA5	c.743_745delinsCCG (p.Ser248=)
12	g.5044891C>A	CA478095353	KCNA5	c.744C>A (p.Ser248=)
12	g.5044891C=	CA2013430941	KCNA5	c.744C= (p.Ser248=)
12	g.5044891C>G	CA231867737	KCNA5	c.744C>G (p.Ser248=)	ClinVar dbSNP COSMIC
12	g.5044891C>T	CA478095352	KCNA5	c.744C>T (p.Ser248=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044895_5044896del	CA6399708	KCNA5	c.748_749del (p.Arg250GlyfsTer24)	dbSNP ExAC gnomAD v2
12	g.5044892G>A	CA383465073	KCNA5	c.745G>A (p.Ala249Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5044892G>C	CA383465074	KCNA5	c.745G>C (p.Ala249Pro)	gnomAD v4
12	g.5044892G=	CA2013430942	KCNA5	c.745G= (p.Ala249=)
12	g.5044892G>T	CA383465075	KCNA5	c.745G>T (p.Ala249Ser)	gnomAD v4
12	g.5044893C>A	CA383465076	KCNA5	c.746C>A (p.Ala249Glu)
12	g.5044893C>G	CA383465078	KCNA5	c.746C>G (p.Ala249Gly)
12	g.5044893C>T	CA383465077	KCNA5	c.746C>T (p.Ala249Val)	gnomAD v4
12	g.5044894G>A	CA478095354	KCNA5	c.747G>A (p.Ala249=)	COSMIC
12	g.5044894G>C	CA478095355	KCNA5	c.747G>C (p.Ala249=)	gnomAD v4
12	g.5044894G>T	CA478095356	KCNA5	c.747G>T (p.Ala249=)	COSMIC
12	g.5044895C>A	CA231867766	KCNA5	c.748C>A (p.Arg250=)	dbSNP
12	g.5044895C=	CA2013430943	KCNA5	c.748C= (p.Arg250=)
12	g.5044895C>G	CA383465079	KCNA5	c.748C>G (p.Arg250Gly)	gnomAD v4
12	g.5044895C>T	CA383465080	KCNA5	c.748C>T (p.Arg250Trp)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044896G>A	CA383465081	KCNA5	c.749G>A (p.Arg250Gln)	ClinVar gnomAD v4 COSMIC
12	g.5044896G>C	CA231867775	KCNA5	c.749G>C (p.Arg250Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.5044896G=	CA2013430944	KCNA5	c.749G= (p.Arg250=)
12	g.5044896G>T	CA383465082	KCNA5	c.749G>T (p.Arg250Leu)	gnomAD v4
12	g.5044897G>A	CA478095358	KCNA5	c.750G>A (p.Arg250=)
12	g.5044897G>C	CA478095359	KCNA5	c.750G>C (p.Arg250=)
12	g.5044897G>T	CA478095357	KCNA5	c.750G>T (p.Arg250=)
12	g.5044898G>A	CA199945	KCNA5	c.751G>A (p.Ala251Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044898G>C	CA383465083	KCNA5	c.751G>C (p.Ala251Pro)
12	g.5044898G=	CA1630855459	KCNA5	c.751G= (p.Ala251=)
12	g.5044898G>T	CA383465084	KCNA5	c.751G>T (p.Ala251Ser)	dbSNP gnomAD v4
12	g.5044905_5044910dup	CA2617209904	KCNA5	c.758_763dup (p.Ile254_Val255insAlaIle)	gnomAD v4
12	g.5044899C>A	CA383465086	KCNA5	c.752C>A (p.Ala251Asp)
12	g.5044899C=	CA2013430945	KCNA5	c.752C= (p.Ala251=)
12	g.5044899C>G	CA231867779	KCNA5	c.752C>G (p.Ala251Gly)	dbSNP
12	g.5044899C>T	CA383465085	KCNA5	c.752C>T (p.Ala251Val)
12	g.5044900C>A	CA478095360	KCNA5	c.753C>A (p.Ala251=)
12	g.5044900C>G	CA478095361	KCNA5	c.753C>G (p.Ala251=)
12	g.5044900C>T	CA478095362	KCNA5	c.753C>T (p.Ala251=)
12	g.5044901A=	CA2013430946	KCNA5	c.754A= (p.Ile252=)
12	g.5044901A>C	CA383465087	KCNA5	c.754A>C (p.Ile252Leu)	ClinVar dbSNP gnomAD v4
12	g.5044901A>G	CA383465088	KCNA5	c.754A>G (p.Ile252Val)	ClinVar dbSNP gnomAD v4
12	g.5044901A>T	CA383465089	KCNA5	c.754A>T (p.Ile252Phe)
12	g.5044902T>A	CA383465090	KCNA5	c.755T>A (p.Ile252Asn)
12	g.5044902T>C	CA383465091	KCNA5	c.755T>C (p.Ile252Thr)
12	g.5044902T>G	CA383465092	KCNA5	c.755T>G (p.Ile252Ser)	gnomAD v4
12	g.5044903C>A	CA478095363	KCNA5	c.756C>A (p.Ile252=)	dbSNP
12	g.5044903C=	CA2013430947	KCNA5	c.756C= (p.Ile252=)
12	g.5044903C>G	CA383465093	KCNA5	c.756C>G (p.Ile252Met)
12	g.5044903C>T	CA6399709	KCNA5	c.756C>T (p.Ile252=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044904G>A	CA383465094	KCNA5	c.757G>A (p.Ala253Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044904G>C	CA383465095	KCNA5	c.757G>C (p.Ala253Pro)
12	g.5044904G=	CA2013430948	KCNA5	c.757G= (p.Ala253=)
12	g.5044904G>T	CA383465096	KCNA5	c.757G>T (p.Ala253Ser)
12	g.5044905C>A	CA383465099	KCNA5	c.758C>A (p.Ala253Asp)
12	g.5044905C>G	CA383465098	KCNA5	c.758C>G (p.Ala253Gly)	COSMIC
12	g.5044905C>T	CA383465097	KCNA5	c.758C>T (p.Ala253Val)	COSMIC
12	g.5044906C>A	CA478095364	KCNA5	c.759C>A (p.Ala253=)
12	g.5044906C=	CA2013430949	KCNA5	c.759C= (p.Ala253=)
12	g.5044906C>G	CA478095365	KCNA5	c.759C>G (p.Ala253=)
12	g.5044906C>T	CA478095366	KCNA5	c.759C>T (p.Ala253=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044907A=	CA2013430950	KCNA5	c.760A= (p.Ile254=)
12	g.5044907A>C	CA383465100	KCNA5	c.760A>C (p.Ile254Leu)
12	g.5044907A>G	CA383465101	KCNA5	c.760A>G (p.Ile254Val)	dbSNP gnomAD v4
12	g.5044907A>T	CA383465102	KCNA5	c.760A>T (p.Ile254Phe)
12	g.5044908T>A	CA383465103	KCNA5	c.761T>A (p.Ile254Asn)
12	g.5044908T>C	CA383465104	KCNA5	c.761T>C (p.Ile254Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5044908T>G	CA383465105	KCNA5	c.761T>G (p.Ile254Ser)
12	g.5044908T=	CA2013430951	KCNA5	c.761T= (p.Ile254=)
12	g.5044909C>A	CA478095368	KCNA5	c.762C>A (p.Ile254=)
12	g.5044909C=	CA2013430952	KCNA5	c.762C= (p.Ile254=)
12	g.5044909C>G	CA383465106	KCNA5	c.762C>G (p.Ile254Met)	dbSNP gnomAD v4
12	g.5044909C>T	CA478095367	KCNA5	c.762C>T (p.Ile254=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044910G>A	CA6399710	KCNA5	c.763G>A (p.Val255Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044910G>C	CA383465107	KCNA5	c.763G>C (p.Val255Leu)
12	g.5044910G=	CA2013430953	KCNA5	c.763G= (p.Val255=)
12	g.5044910G>T	CA383465108	KCNA5	c.763G>T (p.Val255Phe)	gnomAD v4
12	g.5044911T>A	CA383465109	KCNA5	c.764T>A (p.Val255Asp)	gnomAD v4
12	g.5044911T>C	CA383465110	KCNA5	c.764T>C (p.Val255Ala)
12	g.5044911T>G	CA383465111	KCNA5	c.764T>G (p.Val255Gly)
12	g.5044912C>A	CA478095369	KCNA5	c.765C>A (p.Val255=)
12	g.5044912C>G	CA478095370	KCNA5	c.765C>G (p.Val255=)
12	g.5044912C>T	CA478095371	KCNA5	c.765C>T (p.Val255=)
12	g.5044913T>A	CA383465113	KCNA5	c.766T>A (p.Ser256Thr)
12	g.5044913T>C	CA383465114	KCNA5	c.766T>C (p.Ser256Pro)
12	g.5044913T>G	CA383465112	KCNA5	c.766T>G (p.Ser256Ala)
12	g.5044914C>A	CA383465115	KCNA5	c.767C>A (p.Ser256Ter)
12	g.5044914C=	CA2013430954	KCNA5	c.767C= (p.Ser256=)
12	g.5044914C>G	CA383465116	KCNA5	c.767C>G (p.Ser256Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044914C>T	CA383465117	KCNA5	c.767C>T (p.Ser256Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044915G>A	CA231867795	KCNA5	c.768G>A (p.Ser256=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044915G>C	CA478095373	KCNA5	c.768G>C (p.Ser256=)	dbSNP gnomAD v2
12	g.5044915G=	CA2013430955	KCNA5	c.768G= (p.Ser256=)
12	g.5044915G>T	CA478095372	KCNA5	c.768G>T (p.Ser256=)	gnomAD v4
12	g.5044916G>A	CA383465118	KCNA5	c.769G>A (p.Val257Ile)
12	g.5044916G>C	CA383465119	KCNA5	c.769G>C (p.Val257Leu)
12	g.5044916G>T	CA383465120	KCNA5	c.769G>T (p.Val257Phe)
12	g.5044917T>A	CA383465121	KCNA5	c.770T>A (p.Val257Asp)	dbSNP
12	g.5044917T>C	CA383465122	KCNA5	c.770T>C (p.Val257Ala)	ClinVar dbSNP
12	g.5044917T>G	CA383465123	KCNA5	c.770T>G (p.Val257Gly)
12	g.5044917T=	CA2013430956	KCNA5	c.770T= (p.Val257=)
12	g.5044918C>A	CA478095374	KCNA5	c.771C>A (p.Val257=)
12	g.5044918C>G	CA478095375	KCNA5	c.771C>G (p.Val257=)
12	g.5044918C>T	CA478095376	KCNA5	c.771C>T (p.Val257=)
12	g.5044919T>A	CA383465124	KCNA5	c.772T>A (p.Leu258Met)
12	g.5044919T>C	CA478095377	KCNA5	c.772T>C (p.Leu258=)	gnomAD v4
12	g.5044919T>G	CA383465125	KCNA5	c.772T>G (p.Leu258Val)
12	g.5044920T>A	CA383465126	KCNA5	c.773T>A (p.Leu258Ter)
12	g.5044920T>C	CA383465127	KCNA5	c.773T>C (p.Leu258Ser)	dbSNP
12	g.5044920T>G	CA383465128	KCNA5	c.773T>G (p.Leu258Trp)
12	g.5044920T=	CA2013430957	KCNA5	c.773T= (p.Leu258=)
12	g.5044921G>A	CA478095381	KCNA5	c.774G>A (p.Leu258=)
12	g.5044921G>C	CA383465129	KCNA5	c.774G>C (p.Leu258Phe)
12	g.5044921G=	CA2013430958	KCNA5	c.774G= (p.Leu258=)
12	g.5044921G>T	CA231867807	KCNA5	c.774G>T (p.Leu258Phe)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044922G>A	CA6399711	KCNA5	c.775G>A (p.Val259Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044922G>C	CA383465130	KCNA5	c.775G>C (p.Val259Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5044922G=	CA2013430959	KCNA5	c.775G= (p.Val259=)
12	g.5044922G>T	CA231867812	KCNA5	c.775G>T (p.Val259Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044923T>A	CA383465131	KCNA5	c.776T>A (p.Val259Asp)
12	g.5044923T>C	CA383465132	KCNA5	c.776T>C (p.Val259Ala)	gnomAD v4
12	g.5044923T>G	CA383465133	KCNA5	c.776T>G (p.Val259Gly)
12	g.5044924T>A	CA478095382	KCNA5	c.777T>A (p.Val259=)
12	g.5044924T>C	CA478095383	KCNA5	c.777T>C (p.Val259=)	gnomAD v4
12	g.5044924T>G	CA478095384	KCNA5	c.777T>G (p.Val259=)
12	g.5044925A=	CA2013430960	KCNA5	c.778A= (p.Ile260=)
12	g.5044925A>C	CA383465135	KCNA5	c.778A>C (p.Ile260Leu)
12	g.5044925A>G	CA383465134	KCNA5	c.778A>G (p.Ile260Val)
12	g.5044925A>T	CA6399712	KCNA5	c.778A>T (p.Ile260Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044926T>A	CA383465136	KCNA5	c.779T>A (p.Ile260Asn)
12	g.5044926T>C	CA383465137	KCNA5	c.779T>C (p.Ile260Thr)
12	g.5044926T>G	CA383465138	KCNA5	c.779T>G (p.Ile260Ser)
12	g.5044927C>A	CA478095388	KCNA5	c.780C>A (p.Ile260=)
12	g.5044927C=	CA2013430961	KCNA5	c.780C= (p.Ile260=)
12	g.5044927C>G	CA383465139	KCNA5	c.780C>G (p.Ile260Met)
12	g.5044927C>T	CA6399713	KCNA5	c.780C>T (p.Ile260=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044928C>A	CA383465140	KCNA5	c.781C>A (p.Leu261Ile)
12	g.5044928C>G	CA383465142	KCNA5	c.781C>G (p.Leu261Val)
12	g.5044928C>T	CA383465141	KCNA5	c.781C>T (p.Leu261Phe)
12	g.5044929T>A	CA383465143	KCNA5	c.782T>A (p.Leu261His)
12	g.5044929T>C	CA383465144	KCNA5	c.782T>C (p.Leu261Pro)
12	g.5044929T>G	CA383465145	KCNA5	c.782T>G (p.Leu261Arg)
12	g.5044930C>A	CA478095391	KCNA5	c.783C>A (p.Leu261=)
12	g.5044930C>G	CA478095392	KCNA5	c.783C>G (p.Leu261=)
12	g.5044930C>T	CA478095394	KCNA5	c.783C>T (p.Leu261=)
12	g.5044931A>C	CA383465147	KCNA5	c.784A>C (p.Ile262Leu)
12	g.5044931A>G	CA383465148	KCNA5	c.784A>G (p.Ile262Val)
12	g.5044931A>T	CA383465149	KCNA5	c.784A>T (p.Ile262Phe)
12	g.5044932T>A	CA383465152	KCNA5	c.785T>A (p.Ile262Asn)
12	g.5044932T>C	CA383465150	KCNA5	c.785T>C (p.Ile262Thr)
12	g.5044932T>G	CA383465151	KCNA5	c.785T>G (p.Ile262Ser)
12	g.5044933C>A	CA478095396	KCNA5	c.786C>A (p.Ile262=)	gnomAD v4
12	g.5044933C=	CA2013430962	KCNA5	c.786C= (p.Ile262=)
12	g.5044933C>G	CA383465153	KCNA5	c.786C>G (p.Ile262Met)
12	g.5044933C>T	CA6399714	KCNA5	c.786C>T (p.Ile262=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044934T>A	CA383465154	KCNA5	c.787T>A (p.Ser263Thr)
12	g.5044934T>C	CA383465155	KCNA5	c.787T>C (p.Ser263Pro)
12	g.5044934T>G	CA383465156	KCNA5	c.787T>G (p.Ser263Ala)	COSMIC
12	g.5044935C>A	CA383465157	KCNA5	c.788C>A (p.Ser263Tyr)
12	g.5044935C>G	CA383465159	KCNA5	c.788C>G (p.Ser263Cys)
12	g.5044935C>T	CA383465158	KCNA5	c.788C>T (p.Ser263Phe)
12	g.5044936C>A	CA478095400	KCNA5	c.789C>A (p.Ser263=)
12	g.5044936C>G	CA478095399	KCNA5	c.789C>G (p.Ser263=)
12	g.5044936C>T	CA478095398	KCNA5	c.789C>T (p.Ser263=)	gnomAD v4
12	g.5044937A>C	CA383465160	KCNA5	c.790A>C (p.Ile264Leu)
12	g.5044937A>G	CA383465161	KCNA5	c.790A>G (p.Ile264Val)
12	g.5044937A>T	CA383465162	KCNA5	c.790A>T (p.Ile264Phe)
12	g.5044938T>A	CA383465163	KCNA5	c.791T>A (p.Ile264Asn)
12	g.5044938T>C	CA383465164	KCNA5	c.791T>C (p.Ile264Thr)
12	g.5044938T>G	CA383465165	KCNA5	c.791T>G (p.Ile264Ser)
12	g.5044939C>A	CA478095402	KCNA5	c.792C>A (p.Ile264=)
12	g.5044939C=	CA2013430963	KCNA5	c.792C= (p.Ile264=)
12	g.5044939C>G	CA383465166	KCNA5	c.792C>G (p.Ile264Met)
12	g.5044939C>T	CA6399715	KCNA5	c.792C>T (p.Ile264=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044940A>C	CA383465167	KCNA5	c.793A>C (p.Ile265Leu)
12	g.5044940A>G	CA383465168	KCNA5	c.793A>G (p.Ile265Val)
12	g.5044940A>T	CA383465169	KCNA5	c.793A>T (p.Ile265Phe)
12	g.5044941T>A	CA383465171	KCNA5	c.794T>A (p.Ile265Asn)
12	g.5044941T>C	CA383465172	KCNA5	c.794T>C (p.Ile265Thr)
12	g.5044941T>G	CA383465170	KCNA5	c.794T>G (p.Ile265Ser)
12	g.5044942C>A	CA478095405	KCNA5	c.795C>A (p.Ile265=)
12	g.5044942C=	CA2013430964	KCNA5	c.795C= (p.Ile265=)
12	g.5044942C>G	CA383465173	KCNA5	c.795C>G (p.Ile265Met)	ClinVar dbSNP
12	g.5044942C>T	CA6399716	KCNA5	c.795C>T (p.Ile265=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044943A=	CA2013430965	KCNA5	c.796A= (p.Thr266=)
12	g.5044943A>C	CA383465175	KCNA5	c.796A>C (p.Thr266Pro)	gnomAD v4
12	g.5044943A>G	CA383465174	KCNA5	c.796A>G (p.Thr266Ala)
12	g.5044943A>T	CA231867849	KCNA5	c.796A>T (p.Thr266Ser)	dbSNP gnomAD v3 gnomAD v4
12	g.5044944C>A	CA383465176	KCNA5	c.797C>A (p.Thr266Asn)
12	g.5044944C=	CA2013430966	KCNA5	c.797C= (p.Thr266=)
12	g.5044944C>G	CA383465177	KCNA5	c.797C>G (p.Thr266Ser)
12	g.5044944C>T	CA6399717	KCNA5	c.797C>T (p.Thr266Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044945C>A	CA478095406	KCNA5	c.798C>A (p.Thr266=)	gnomAD v4
12	g.5044945C=	CA2013430967	KCNA5	c.798C= (p.Thr266=)
12	g.5044945C>G	CA478095407	KCNA5	c.798C>G (p.Thr266=)
12	g.5044945C>T	CA478095408	KCNA5	c.798C>T (p.Thr266=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044946T>A	CA383465178	KCNA5	c.799T>A (p.Phe267Ile)
12	g.5044946T>C	CA383465179	KCNA5	c.799T>C (p.Phe267Leu)
12	g.5044946T>G	CA383465180	KCNA5	c.799T>G (p.Phe267Val)
12	g.5044947T>A	CA383465181	KCNA5	c.800T>A (p.Phe267Tyr)
12	g.5044947T>C	CA6399718	KCNA5	c.800T>C (p.Phe267Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044947T>G	CA383465182	KCNA5	c.800T>G (p.Phe267Cys)
12	g.5044947T=	CA2013430968	KCNA5	c.800T= (p.Phe267=)
12	g.5044948C>A	CA383465183	KCNA5	c.801C>A (p.Phe267Leu)
12	g.5044948C=	CA2013430969	KCNA5	c.801C= (p.Phe267=)
12	g.5044948C>G	CA383465184	KCNA5	c.801C>G (p.Phe267Leu)	dbSNP gnomAD v4
12	g.5044948C>T	CA478095410	KCNA5	c.801C>T (p.Phe267=)
12	g.5044949T>A	CA383465185	KCNA5	c.802T>A (p.Cys268Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5044949T>C	CA383465187	KCNA5	c.802T>C (p.Cys268Arg)
12	g.5044949T>G	CA383465186	KCNA5	c.802T>G (p.Cys268Gly)
12	g.5044949T=	CA2013430970	KCNA5	c.802T= (p.Cys268=)
12	g.5044950G>A	CA383465188	KCNA5	c.803G>A (p.Cys268Tyr)
12	g.5044950G>C	CA383465189	KCNA5	c.803G>C (p.Cys268Ser)
12	g.5044950G>T	CA383465190	KCNA5	c.803G>T (p.Cys268Phe)
12	g.5044951C>A	CA383465191	KCNA5	c.804C>A (p.Cys268Ter)	COSMIC
12	g.5044951C=	CA2013430971	KCNA5	c.804C= (p.Cys268=)
12	g.5044951C>G	CA383465192	KCNA5	c.804C>G (p.Cys268Trp)
12	g.5044951C>T	CA6399719	KCNA5	c.804C>T (p.Cys268=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044952T>A	CA383465193	KCNA5	c.805T>A (p.Leu269Met)	dbSNP
12	g.5044952T>C	CA478095413	KCNA5	c.805T>C (p.Leu269=)
12	g.5044952T>G	CA383465194	KCNA5	c.805T>G (p.Leu269Val)
12	g.5044952T=	CA2013430972	KCNA5	c.805T= (p.Leu269=)
12	g.5044953T>A	CA383465195	KCNA5	c.806T>A (p.Leu269Ter)
12	g.5044953T>C	CA383465196	KCNA5	c.806T>C (p.Leu269Ser)
12	g.5044953T>G	CA383465197	KCNA5	c.806T>G (p.Leu269Trp)
12	g.5044954G>A	CA6399720	KCNA5	c.807G>A (p.Leu269=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044954G>C	CA383465199	KCNA5	c.807G>C (p.Leu269Phe)
12	g.5044954G=	CA2013430973	KCNA5	c.807G= (p.Leu269=)
12	g.5044954G>T	CA383465198	KCNA5	c.807G>T (p.Leu269Phe)
12	g.5044955G>A	CA383465202	KCNA5	c.808G>A (p.Glu270Lys)
12	g.5044955G>C	CA383465200	KCNA5	c.808G>C (p.Glu270Gln)	COSMIC
12	g.5044955G>T	CA383465201	KCNA5	c.808G>T (p.Glu270Ter)
12	g.5044956A=	CA2013430974	KCNA5	c.809A= (p.Glu270=)
12	g.5044956A>C	CA383465203	KCNA5	c.809A>C (p.Glu270Ala)
12	g.5044956A>G	CA383465204	KCNA5	c.809A>G (p.Glu270Gly)
12	g.5044956A>T	CA231867871	KCNA5	c.809A>T (p.Glu270Val)	dbSNP
12	g.5044957G>A	CA478095421	KCNA5	c.810G>A (p.Glu270=)
12	g.5044957G>C	CA231867872	KCNA5	c.810G>C (p.Glu270Asp)	dbSNP
12	g.5044957G=	CA2013430975	KCNA5	c.810G= (p.Glu270=)
12	g.5044957G>T	CA383465205	KCNA5	c.810G>T (p.Glu270Asp)
12	g.5044958A=	CA2013430976	KCNA5	c.811A= (p.Thr271=)
12	g.5044958A>C	CA383465206	KCNA5	c.811A>C (p.Thr271Pro)	dbSNP gnomAD v4
12	g.5044958A>G	CA383465207	KCNA5	c.811A>G (p.Thr271Ala)
12	g.5044958A>T	CA383465208	KCNA5	c.811A>T (p.Thr271Ser)
12	g.5044959C>A	CA6399721	KCNA5	c.812C>A (p.Thr271Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044959C=	CA2013430977	KCNA5	c.812C= (p.Thr271=)
12	g.5044959C>G	CA383465209	KCNA5	c.812C>G (p.Thr271Ser)	gnomAD v4
12	g.5044959C>T	CA383465210	KCNA5	c.812C>T (p.Thr271Ile)	gnomAD v4
12	g.5044960C>A	CA478095427	KCNA5	c.813C>A (p.Thr271=)	dbSNP
12	g.5044960C>G	CA478095429	KCNA5	c.813C>G (p.Thr271=)
12	g.5044960C>T	CA478095428	KCNA5	c.813C>T (p.Thr271=)	gnomAD v4
12	g.5044961C>A	CA383465212	KCNA5	c.814C>A (p.Leu272Met)
12	g.5044961C=	CA2013430978	KCNA5	c.814C= (p.Leu272=)
12	g.5044961C>G	CA383465211	KCNA5	c.814C>G (p.Leu272Val)
12	g.5044961C>T	CA478095432	KCNA5	c.814C>T (p.Leu272=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044962T>A	CA383465213	KCNA5	c.815T>A (p.Leu272Gln)	dbSNP gnomAD v2 gnomAD v4
12	g.5044962T>C	CA383465214	KCNA5	c.815T>C (p.Leu272Pro)
12	g.5044962T>G	CA383465215	KCNA5	c.815T>G (p.Leu272Arg)
12	g.5044962T=	CA2013430979	KCNA5	c.815T= (p.Leu272=)
12	g.5044963G>A	CA6399722	KCNA5	c.816G>A (p.Leu272=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044963G>C	CA478095435	KCNA5	c.816G>C (p.Leu272=)
12	g.5044963G=	CA2013430980	KCNA5	c.816G= (p.Leu272=)
12	g.5044963G>T	CA478095436	KCNA5	c.816G>T (p.Leu272=)
12	g.5044964C>A	CA383465216	KCNA5	c.817C>A (p.Pro273Thr)	gnomAD v4
12	g.5044964C=	CA2013430981	KCNA5	c.817C= (p.Pro273=)
12	g.5044964C>G	CA383465217	KCNA5	c.817C>G (p.Pro273Ala)
12	g.5044964C>T	CA383465218	KCNA5	c.817C>T (p.Pro273Ser)	dbSNP gnomAD v2 COSMIC
12	g.5044965C>A	CA383465219	KCNA5	c.818C>A (p.Pro273His)	gnomAD v4
12	g.5044965C>G	CA383465220	KCNA5	c.818C>G (p.Pro273Arg)
12	g.5044965C>T	CA383465221	KCNA5	c.818C>T (p.Pro273Leu)
12	g.5044966T>A	CA478095439	KCNA5	c.819T>A (p.Pro273=)
12	g.5044966T>C	CA478095442	KCNA5	c.819T>C (p.Pro273=)
12	g.5044966T>G	CA478095440	KCNA5	c.819T>G (p.Pro273=)
12	g.5044967G>A	CA383465222	KCNA5	c.820G>A (p.Glu274Lys)	gnomAD v4
12	g.5044967G>C	CA383465223	KCNA5	c.820G>C (p.Glu274Gln)
12	g.5044967G>T	CA383465224	KCNA5	c.820G>T (p.Glu274Ter)
12	g.5044968A>C	CA383465226	KCNA5	c.821A>C (p.Glu274Ala)
12	g.5044968A>G	CA383465227	KCNA5	c.821A>G (p.Glu274Gly)
12	g.5044968A>T	CA383465225	KCNA5	c.821A>T (p.Glu274Val)	gnomAD v4
12	g.5044969G>A	CA478095449	KCNA5	c.822G>A (p.Glu274=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044969G>C	CA383465228	KCNA5	c.822G>C (p.Glu274Asp)
12	g.5044969G=	CA2013430982	KCNA5	c.822G= (p.Glu274=)
12	g.5044969G>T	CA383465229	KCNA5	c.822G>T (p.Glu274Asp)
12	g.5044970T>A	CA383465230	KCNA5	c.823T>A (p.Phe275Ile)
12	g.5044970T>C	CA383465231	KCNA5	c.823T>C (p.Phe275Leu)
12	g.5044970T>G	CA383465232	KCNA5	c.823T>G (p.Phe275Val)
12	g.5044971T>A	CA383465233	KCNA5	c.824T>A (p.Phe275Tyr)	gnomAD v4
12	g.5044971T>C	CA383465234	KCNA5	c.824T>C (p.Phe275Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044971T>G	CA383465235	KCNA5	c.824T>G (p.Phe275Cys)
12	g.5044971T=	CA2013430983	KCNA5	c.824T= (p.Phe275=)
12	g.5044972C>A	CA231867903	KCNA5	c.825C>A (p.Phe275Leu)	dbSNP
12	g.5044972C=	CA2013430984	KCNA5	c.825C= (p.Phe275=)
12	g.5044972C>G	CA383465236	KCNA5	c.825C>G (p.Phe275Leu)	gnomAD v4
12	g.5044972C>T	CA478095455	KCNA5	c.825C>T (p.Phe275=)
12	g.5044973A>C	CA478095456	KCNA5	c.826A>C (p.Arg276=)
12	g.5044973A>G	CA383465237	KCNA5	c.826A>G (p.Arg276Gly)
12	g.5044973A>T	CA383465238	KCNA5	c.826A>T (p.Arg276Trp)
12	g.5044974G>A	CA6399723	KCNA5	c.827G>A (p.Arg276Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044974G>C	CA383465239	KCNA5	c.827G>C (p.Arg276Thr)
12	g.5044974G=	CA2013430985	KCNA5	c.827G= (p.Arg276=)
12	g.5044974G>T	CA383465240	KCNA5	c.827G>T (p.Arg276Met)
12	g.5044975G>A	CA6399724	KCNA5	c.828G>A (p.Arg276=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044975G>C	CA383465242	KCNA5	c.828G>C (p.Arg276Ser)
12	g.5044975G=	CA2013430986	KCNA5	c.828G= (p.Arg276=)
12	g.5044975G>T	CA383465241	KCNA5	c.828G>T (p.Arg276Ser)
12	g.5044976G>A	CA6399725	KCNA5	c.829G>A (p.Asp277Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044976G>C	CA383465243	KCNA5	c.829G>C (p.Asp277His)	dbSNP gnomAD v4
12	g.5044976G=	CA2013430987	KCNA5	c.829G= (p.Asp277=)
12	g.5044976G>T	CA383465244	KCNA5	c.829G>T (p.Asp277Tyr)	gnomAD v4
12	g.5044977A=	CA2013430988	KCNA5	c.830A= (p.Asp277=)
12	g.5044977A>C	CA383465245	KCNA5	c.830A>C (p.Asp277Ala)
12	g.5044977A>G	CA231867923	KCNA5	c.830A>G (p.Asp277Gly)	ClinVar dbSNP gnomAD v4
12	g.5044977A>T	CA383465246	KCNA5	c.830A>T (p.Asp277Val)
12	g.5044978T>A	CA383465247	KCNA5	c.831T>A (p.Asp277Glu)	gnomAD v4
12	g.5044978T>C	CA478095197	KCNA5	c.831T>C (p.Asp277=)	gnomAD v4
12	g.5044978T>G	CA383465248	KCNA5	c.831T>G (p.Asp277Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044978T=	CA2013430989	KCNA5	c.831T= (p.Asp277=)

Number of alleles fetched