Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044999_5045016del	CA6399732	KCNA5	c.852_869del (p.His284_His289del)	ClinVar dbSNP ExAC gnomAD v4
12	g.5045014C>A	CA383465318	KCNA5	c.867C>A (p.His289Gln)	dbSNP
12	g.5045014C>G	CA383465319	KCNA5	c.867C>G (p.His289Gln)
12	g.5045014C>T	CA478095252	KCNA5	c.867C>T (p.His289=)
12	g.5045015C>A	CA6399739	KCNA5	c.868C>A (p.Gln290Lys)	dbSNP ExAC gnomAD v2 COSMIC
12	g.5045015C=	CA2013431013	KCNA5	c.868C= (p.Gln290=)
12	g.5045015C>G	CA383465320	KCNA5	c.868C>G (p.Gln290Glu)
12	g.5045015C>T	CA383465321	KCNA5	c.868C>T (p.Gln290Ter)
12	g.5045015_5045016insCCCCAAACACACCCAACAC	CA2794382109	KCNA5	c.868_869insCCCCAAACACACCCAACAC (p.Gln290ProfsTer?)
12	g.5045016_5045017insAACCAAACACACCCAACACA	CA2794382108	KCNA5	c.869_870insAACCAAACACACCCAACACA (p.Pro291ThrfsTer?)
12	g.5045016A>C	CA383465322	KCNA5	c.869A>C (p.Gln290Pro)
12	g.5045016A>G	CA383465323	KCNA5	c.869A>G (p.Gln290Arg)
12	g.5045016A>T	CA383465324	KCNA5	c.869A>T (p.Gln290Leu)
12	g.5045017G>A	CA6399740	KCNA5	c.870G>A (p.Gln290=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045017G>C	CA383465325	KCNA5	c.870G>C (p.Gln290His)
12	g.5045017G=	CA2013431014	KCNA5	c.870G= (p.Gln290=)
12	g.5045017G>T	CA383465326	KCNA5	c.870G>T (p.Gln290His)
12	g.5045018C>A	CA383465327	KCNA5	c.871C>A (p.Pro291Thr)
12	g.5045018C=	CA2013431015	KCNA5	c.871C= (p.Pro291=)
12	g.5045018C>G	CA231868038	KCNA5	c.871C>G (p.Pro291Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.5045018C>T	CA383465328	KCNA5	c.871C>T (p.Pro291Ser)
12	g.5045019C>A	CA383465329	KCNA5	c.872C>A (p.Pro291His)
12	g.5045019C>G	CA383465331	KCNA5	c.872C>G (p.Pro291Arg)
12	g.5045019C>T	CA383465330	KCNA5	c.872C>T (p.Pro291Leu)	gnomAD v4
12	g.5045020T>A	CA478095256	KCNA5	c.873T>A (p.Pro291=)
12	g.5045020T>C	CA478095258	KCNA5	c.873T>C (p.Pro291=)
12	g.5045020T>G	CA478095257	KCNA5	c.873T>G (p.Pro291=)
12	g.5045021C>A	CA383465332	KCNA5	c.874C>A (p.Pro292Thr)
12	g.5045021C=	CA2013431016	KCNA5	c.874C= (p.Pro292=)
12	g.5045021C>G	CA383465333	KCNA5	c.874C>G (p.Pro292Ala)
12	g.5045021C>T	CA231868040	KCNA5	c.874C>T (p.Pro292Ser)	dbSNP gnomAD v3 gnomAD v4
12	g.5045022C>A	CA383465334	KCNA5	c.875C>A (p.Pro292His)
12	g.5045022C=	CA2013431017	KCNA5	c.875C= (p.Pro292=)
12	g.5045022C>G	CA383465335	KCNA5	c.875C>G (p.Pro292Arg)
12	g.5045022C>T	CA383465336	KCNA5	c.875C>T (p.Pro292Leu)	dbSNP gnomAD v4
12	g.5045023C>A	CA478095263	KCNA5	c.876C>A (p.Pro292=)	gnomAD v4
12	g.5045023C=	CA2013431018	KCNA5	c.876C= (p.Pro292=)
12	g.5045023C>G	CA478095264	KCNA5	c.876C>G (p.Pro292=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045023C>T	CA6399741	KCNA5	c.876C>T (p.Pro292=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045024G>A	CA231868047	KCNA5	c.877G>A (p.Ala293Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045024G>C	CA383465337	KCNA5	c.877G>C (p.Ala293Pro)
12	g.5045024G=	CA2013431019	KCNA5	c.877G= (p.Ala293=)
12	g.5045024G>T	CA383465338	KCNA5	c.877G>T (p.Ala293Ser)
12	g.5045025C>A	CA383465339	KCNA5	c.878C>A (p.Ala293Glu)
12	g.5045025C>G	CA383465340	KCNA5	c.878C>G (p.Ala293Gly)
12	g.5045025C>T	CA383465341	KCNA5	c.878C>T (p.Ala293Val)	COSMIC
12	g.5045026G>A	CA478095268	KCNA5	c.879G>A (p.Ala293=)	dbSNP gnomAD v4
12	g.5045026G>C	CA478095270	KCNA5	c.879G>C (p.Ala293=)
12	g.5045026G=	CA2013431020	KCNA5	c.879G= (p.Ala293=)
12	g.5045026G>T	CA478095269	KCNA5	c.879G>T (p.Ala293=)	ClinVar dbSNP gnomAD v2
12	g.5045027C>A	CA383465344	KCNA5	c.880C>A (p.Pro294Thr)
12	g.5045027C=	CA2013431021	KCNA5	c.880C= (p.Pro294=)
12	g.5045027C>G	CA383465343	KCNA5	c.880C>G (p.Pro294Ala)
12	g.5045027C>T	CA383465342	KCNA5	c.880C>T (p.Pro294Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045028C>A	CA383465345	KCNA5	c.881C>A (p.Pro294His)
12	g.5045028C>G	CA383465346	KCNA5	c.881C>G (p.Pro294Arg)
12	g.5045028C>T	CA383465347	KCNA5	c.881C>T (p.Pro294Leu)	gnomAD v4
12	g.5045029C>A	CA6399742	KCNA5	c.882C>A (p.Pro294=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045029C=	CA2013431022	KCNA5	c.882C= (p.Pro294=)
12	g.5045029C>G	CA478095273	KCNA5	c.882C>G (p.Pro294=)	gnomAD v4
12	g.5045029C>T	CA478095274	KCNA5	c.882C>T (p.Pro294=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045030G>A	CA383465348	KCNA5	c.883G>A (p.Ala295Thr)	gnomAD v4 COSMIC
12	g.5045030G>C	CA383465349	KCNA5	c.883G>C (p.Ala295Pro)
12	g.5045030G>T	CA383465350	KCNA5	c.883G>T (p.Ala295Ser)	ClinVar gnomAD v4 COSMIC
12	g.5045031C>A	CA231868055	KCNA5	c.884C>A (p.Ala295Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045031C=	CA2013431023	KCNA5	c.884C= (p.Ala295=)
12	g.5045031C>G	CA383465351	KCNA5	c.884C>G (p.Ala295Gly)
12	g.5045031C>T	CA383465352	KCNA5	c.884C>T (p.Ala295Val)	gnomAD v4
12	g.5045032C>A	CA478095276	KCNA5	c.885C>A (p.Ala295=)
12	g.5045032C=	CA2013431024	KCNA5	c.885C= (p.Ala295=)
12	g.5045032C>G	CA478095277	KCNA5	c.885C>G (p.Ala295=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045032C>T	CA6399743	KCNA5	c.885C>T (p.Ala295=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045033C>A	CA383465353	KCNA5	c.886C>A (p.Pro296Thr)
12	g.5045033C=	CA2013431025	KCNA5	c.886C= (p.Pro296=)
12	g.5045033C>G	CA383465354	KCNA5	c.886C>G (p.Pro296Ala)
12	g.5045033C>T	CA383465355	KCNA5	c.886C>T (p.Pro296Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045034C>A	CA383465357	KCNA5	c.887C>A (p.Pro296His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045034C=	CA2013431026	KCNA5	c.887C= (p.Pro296=)
12	g.5045034C>G	CA383465358	KCNA5	c.887C>G (p.Pro296Arg)
12	g.5045034C>T	CA383465356	KCNA5	c.887C>T (p.Pro296Leu)	gnomAD v4
12	g.5045035del	CA2697559074	KCNA5	c.888del (p.Ala298ProfsTer?)	ClinVar
12	g.5045035T>A	CA478095278	KCNA5	c.888T>A (p.Pro296=)
12	g.5045035T>C	CA478095279	KCNA5	c.888T>C (p.Pro296=)
12	g.5045035T>G	CA478095280	KCNA5	c.888T>G (p.Pro296=)
12	g.5045036G>A	CA383465359	KCNA5	c.889G>A (p.Gly297Arg)	gnomAD v4
12	g.5045036G>C	CA383465360	KCNA5	c.889G>C (p.Gly297Arg)
12	g.5045036G>T	CA383465361	KCNA5	c.889G>T (p.Gly297Trp)
12	g.5045037G>A	CA6399744	KCNA5	c.890G>A (p.Gly297Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045037G>C	CA383465362	KCNA5	c.890G>C (p.Gly297Ala)
12	g.5045037G=	CA2013431027	KCNA5	c.890G= (p.Gly297=)
12	g.5045037G>T	CA383465363	KCNA5	c.890G>T (p.Gly297Val)
12	g.5045038G>A	CA478095281	KCNA5	c.891G>A (p.Gly297=)	dbSNP
12	g.5045038G>C	CA478095282	KCNA5	c.891G>C (p.Gly297=)
12	g.5045038G=	CA2013431028	KCNA5	c.891G= (p.Gly297=)
12	g.5045038G>T	CA478095283	KCNA5	c.891G>T (p.Gly297=)	gnomAD v4
12	g.5045039G>A	CA383465364	KCNA5	c.892G>A (p.Ala298Thr)
12	g.5045039G>C	CA383465365	KCNA5	c.892G>C (p.Ala298Pro)
12	g.5045039G>T	CA383465366	KCNA5	c.892G>T (p.Ala298Ser)
12	g.5045040C>A	CA383465367	KCNA5	c.893C>A (p.Ala298Asp)
12	g.5045040C>G	CA383465368	KCNA5	c.893C>G (p.Ala298Gly)
12	g.5045040C>T	CA383465369	KCNA5	c.893C>T (p.Ala298Val)
12	g.5045041C>A	CA478095284	KCNA5	c.894C>A (p.Ala298=)
12	g.5045041C>G	CA478095286	KCNA5	c.894C>G (p.Ala298=)
12	g.5045041C>T	CA478095285	KCNA5	c.894C>T (p.Ala298=)
12	g.5045042A>C	CA383465372	KCNA5	c.895A>C (p.Asn299His)
12	g.5045042A>G	CA383465370	KCNA5	c.895A>G (p.Asn299Asp)
12	g.5045042A>T	CA383465371	KCNA5	c.895A>T (p.Asn299Tyr)	gnomAD v4
12	g.5045043A>C	CA383465373	KCNA5	c.896A>C (p.Asn299Thr)
12	g.5045043A>G	CA383465374	KCNA5	c.896A>G (p.Asn299Ser)
12	g.5045043A>T	CA383465375	KCNA5	c.896A>T (p.Asn299Ile)
12	g.5045044C>A	CA383465376	KCNA5	c.897C>A (p.Asn299Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045044C=	CA2013431029	KCNA5	c.897C= (p.Asn299=)
12	g.5045044C>G	CA6399746	KCNA5	c.897C>G (p.Asn299Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045044C>T	CA6399745	KCNA5	c.897C>T (p.Asn299=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045047_5045052dup	CA2617209907	KCNA5	c.900_905dup (p.Gly302_Val303insSerGly)	gnomAD v4
12	g.5045045G>A	CA236719	KCNA5	c.898G>A (p.Gly300Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045045G>C	CA6399747	KCNA5	c.898G>C (p.Gly300Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045045G=	CA2013431030	KCNA5	c.898G= (p.Gly300=)
12	g.5045045G>T	CA383465377	KCNA5	c.898G>T (p.Gly300Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045046G>A	CA6399748	KCNA5	c.899G>A (p.Gly300Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045046G>C	CA383465378	KCNA5	c.899G>C (p.Gly300Ala)
12	g.5045046G=	CA2013431032	KCNA5	c.899G= (p.Gly300=)
12	g.5045046G>T	CA383465379	KCNA5	c.899G>T (p.Gly300Val)
12	g.5045048_5045050dup	CA2013431031	KCNA5	c.901_903dup (p.Ser301_Gly302insSer)	dbSNP
12	g.5045047C>A	CA478095289	KCNA5	c.900C>A (p.Gly300=)
12	g.5045047C=	CA2013431033	KCNA5	c.900C= (p.Gly300=)
12	g.5045047C>G	CA478095288	KCNA5	c.900C>G (p.Gly300=)
12	g.5045047C>T	CA478095287	KCNA5	c.900C>T (p.Gly300=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045048A>C	CA383465381	KCNA5	c.901A>C (p.Ser301Arg)
12	g.5045048A>G	CA383465382	KCNA5	c.901A>G (p.Ser301Gly)
12	g.5045048A>T	CA383465380	KCNA5	c.901A>T (p.Ser301Cys)
12	g.5045049G>A	CA383465384	KCNA5	c.902G>A (p.Ser301Asn)
12	g.5045049G>C	CA383465383	KCNA5	c.902G>C (p.Ser301Thr)
12	g.5045049G>T	CA383465385	KCNA5	c.902G>T (p.Ser301Ile)
12	g.5045050C>A	CA383465386	KCNA5	c.903C>A (p.Ser301Arg)
12	g.5045050C=	CA2013431034	KCNA5	c.903C= (p.Ser301=)
12	g.5045050C>G	CA6399749	KCNA5	c.903C>G (p.Ser301Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045050C>T	CA6399750	KCNA5	c.903C>T (p.Ser301=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045051G>A	CA6399752	KCNA5	c.904G>A (p.Gly302Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045051G>C	CA6399751	KCNA5	c.904G>C (p.Gly302Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045051G=	CA2013431036	KCNA5	c.904G= (p.Gly302=)
12	g.5045051G>T	CA383465387	KCNA5	c.904G>T (p.Gly302Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045051_5045052delinsCA	CA916083285	KCNA5	c.904_905delinsCA (p.Gly302Gln)	ClinVar dbSNP
12	g.5045051_5045052delinsGG	CA2013431035	KCNA5	c.904_905delinsGG (p.Gly302=)
12	g.5045052G>A	CA383465388	KCNA5	c.905G>A (p.Gly302Glu)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045052G>C	CA383465389	KCNA5	c.905G>C (p.Gly302Ala)
12	g.5045052G=	CA2013431037	KCNA5	c.905G= (p.Gly302=)
12	g.5045052G>T	CA383465390	KCNA5	c.905G>T (p.Gly302Val)
12	g.5045053G>A	CA6399753	KCNA5	c.906G>A (p.Gly302=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045053G>C	CA6399754	KCNA5	c.906G>C (p.Gly302=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045053G=	CA2013431038	KCNA5	c.906G= (p.Gly302=)
12	g.5045053G>T	CA478095290	KCNA5	c.906G>T (p.Gly302=)	gnomAD v4
12	g.5045054G>A	CA383465391	KCNA5	c.907G>A (p.Val303Ile)	COSMIC
12	g.5045054G>C	CA383465392	KCNA5	c.907G>C (p.Val303Leu)	gnomAD v4
12	g.5045054G>T	CA383465393	KCNA5	c.907G>T (p.Val303Phe)
12	g.5045055T>A	CA383465395	KCNA5	c.908T>A (p.Val303Asp)
12	g.5045055T>C	CA383465394	KCNA5	c.908T>C (p.Val303Ala)	gnomAD v3 gnomAD v4
12	g.5045055T>G	CA6399755	KCNA5	c.908T>G (p.Val303Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045055T=	CA2013431039	KCNA5	c.908T= (p.Val303=)
12	g.5045056C>A	CA478095292	KCNA5	c.909C>A (p.Val303=)	ClinVar gnomAD v4
12	g.5045056C>G	CA478095293	KCNA5	c.909C>G (p.Val303=)
12	g.5045056C>T	CA478095291	KCNA5	c.909C>T (p.Val303=)	gnomAD v4 COSMIC
12	g.5045057A>C	CA383465396	KCNA5	c.910A>C (p.Met304Leu)
12	g.5045057A>G	CA383465397	KCNA5	c.910A>G (p.Met304Val)
12	g.5045057A>T	CA383465398	KCNA5	c.910A>T (p.Met304Leu)
12	g.5045058T>A	CA383465399	KCNA5	c.911T>A (p.Met304Lys)	COSMIC
12	g.5045058T>C	CA6399756	KCNA5	c.911T>C (p.Met304Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045058T>G	CA383465400	KCNA5	c.911T>G (p.Met304Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.5045058T=	CA2013431040	KCNA5	c.911T= (p.Met304=)
12	g.5045059G>A	CA231868177	KCNA5	c.912G>A (p.Met304Ile)	dbSNP gnomAD v2
12	g.5045059G>C	CA383465401	KCNA5	c.912G>C (p.Met304Ile)
12	g.5045059G=	CA2013431041	KCNA5	c.912G= (p.Met304=)
12	g.5045059G>T	CA383465402	KCNA5	c.912G>T (p.Met304Ile)	gnomAD v3 gnomAD v4
12	g.5045060G>A	CA151378	KCNA5	c.913G>A (p.Ala305Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045060G>C	CA383465403	KCNA5	c.913G>C (p.Ala305Pro)
12	g.5045060G=	CA2013431042	KCNA5	c.913G= (p.Ala305=)
12	g.5045060G>T	CA383465404	KCNA5	c.913G>T (p.Ala305Ser)
12	g.5045060_5045062delinsGCC	CA2013431043	KCNA5	c.913_915delinsGCC (p.Ala305=)
12	g.5045061C>A	CA383465407	KCNA5	c.914C>A (p.Ala305Asp)
12	g.5045061C>G	CA383465406	KCNA5	c.914C>G (p.Ala305Gly)
12	g.5045061C>T	CA383465405	KCNA5	c.914C>T (p.Ala305Val)
12	g.5045063_5045064del	CA603482590	KCNA5	c.916_917del (p.Pro306AlafsTer?)	dbSNP gnomAD v2 gnomAD v4
12	g.5045062C>A	CA478095297	KCNA5	c.915C>A (p.Ala305=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045062C=	CA2013431044	KCNA5	c.915C= (p.Ala305=)
12	g.5045062C>G	CA478095299	KCNA5	c.915C>G (p.Ala305=)	dbSNP
12	g.5045062C>T	CA478095298	KCNA5	c.915C>T (p.Ala305=)	gnomAD v4
12	g.5045063C>A	CA383465410	KCNA5	c.916C>A (p.Pro306Thr)
12	g.5045063C=	CA2013431045	KCNA5	c.916C= (p.Pro306=)
12	g.5045063C>G	CA383465408	KCNA5	c.916C>G (p.Pro306Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.5045063C>T	CA383465409	KCNA5	c.916C>T (p.Pro306Ser)
12	g.5045064C>A	CA6399757	KCNA5	c.917C>A (p.Pro306Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045064C=	CA2013431046	KCNA5	c.917C= (p.Pro306=)
12	g.5045064C>G	CA383465411	KCNA5	c.917C>G (p.Pro306Arg)
12	g.5045064C>T	CA383465412	KCNA5	c.917C>T (p.Pro306Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045065G>A	CA478095301	KCNA5	c.918G>A (p.Pro306=)	dbSNP gnomAD v4 COSMIC
12	g.5045065G>C	CA478095302	KCNA5	c.918G>C (p.Pro306=)
12	g.5045065G=	CA2013431047	KCNA5	c.918G= (p.Pro306=)
12	g.5045065G>T	CA478095303	KCNA5	c.918G>T (p.Pro306=)	dbSNP gnomAD v4
12	g.5045066C>A	CA383465413	KCNA5	c.919C>A (p.Pro307Thr)
12	g.5045066C=	CA2013431048	KCNA5	c.919C= (p.Pro307=)
12	g.5045066C>G	CA383465414	KCNA5	c.919C>G (p.Pro307Ala)
12	g.5045066C>T	CA199821	KCNA5	c.919C>T (p.Pro307Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045067C>A	CA383465415	KCNA5	c.920C>A (p.Pro307His)
12	g.5045067C=	CA2013431049	KCNA5	c.920C= (p.Pro307=)
12	g.5045067C>G	CA383465416	KCNA5	c.920C>G (p.Pro307Arg)
12	g.5045067C>T	CA383465417	KCNA5	c.920C>T (p.Pro307Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045068C>A	CA478095307	KCNA5	c.921C>A (p.Pro307=)
12	g.5045068C=	CA2013431050	KCNA5	c.921C= (p.Pro307=)
12	g.5045068C>G	CA6399758	KCNA5	c.921C>G (p.Pro307=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045068C>T	CA478095308	KCNA5	c.921C>T (p.Pro307=)	dbSNP gnomAD v4
12	g.5045069del	CA645578788	KCNA5	c.922del (p.Ser308LeufsTer?)	COSMIC
12	g.5045069T>A	CA383465420	KCNA5	c.922T>A (p.Ser308Thr)
12	g.5045069T>C	CA383465419	KCNA5	c.922T>C (p.Ser308Pro)
12	g.5045069T>G	CA383465418	KCNA5	c.922T>G (p.Ser308Ala)
12	g.5045070C>A	CA383465421	KCNA5	c.923C>A (p.Ser308Tyr)
12	g.5045070C>G	CA383465422	KCNA5	c.923C>G (p.Ser308Cys)
12	g.5045070C>T	CA383465423	KCNA5	c.923C>T (p.Ser308Phe)
12	g.5045071T>A	CA478095309	KCNA5	c.924T>A (p.Ser308=)
12	g.5045071T>C	CA478095310	KCNA5	c.924T>C (p.Ser308=)	dbSNP gnomAD v2
12	g.5045071T>G	CA478095311	KCNA5	c.924T>G (p.Ser308=)
12	g.5045071T=	CA2013431051	KCNA5	c.924T= (p.Ser308=)
12	g.5045072G>A	CA383465424	KCNA5	c.925G>A (p.Gly309Ser)	gnomAD v4
12	g.5045072G>C	CA383465425	KCNA5	c.925G>C (p.Gly309Arg)
12	g.5045072G>T	CA383465426	KCNA5	c.925G>T (p.Gly309Cys)
12	g.5045073G>A	CA6399759	KCNA5	c.926G>A (p.Gly309Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045073G>C	CA383465427	KCNA5	c.926G>C (p.Gly309Ala)
12	g.5045073G=	CA2013431052	KCNA5	c.926G= (p.Gly309=)
12	g.5045073G>T	CA383465428	KCNA5	c.926G>T (p.Gly309Val)
12	g.5045074C>A	CA478095314	KCNA5	c.927C>A (p.Gly309=)	dbSNP
12	g.5045074C=	CA2013431053	KCNA5	c.927C= (p.Gly309=)
12	g.5045074C>G	CA478095315	KCNA5	c.927C>G (p.Gly309=)
12	g.5045074C>T	CA6399760	KCNA5	c.927C>T (p.Gly309=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045075C>A	CA383465429	KCNA5	c.928C>A (p.Pro310Thr)
12	g.5045075C>G	CA383465430	KCNA5	c.928C>G (p.Pro310Ala)
12	g.5045075C>T	CA383465431	KCNA5	c.928C>T (p.Pro310Ser)
12	g.5045076C>A	CA383465432	KCNA5	c.929C>A (p.Pro310His)
12	g.5045076C=	CA1630855460	KCNA5	c.929C= (p.Pro310=)
12	g.5045076C>G	CA383465433	KCNA5	c.929C>G (p.Pro310Arg)	dbSNP
12	g.5045076C>T	CA199947	KCNA5	c.929C>T (p.Pro310Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045077T>A	CA478095319	KCNA5	c.930T>A (p.Pro310=)	dbSNP COSMIC
12	g.5045077T>C	CA478095318	KCNA5	c.930T>C (p.Pro310=)
12	g.5045077T>G	CA478095317	KCNA5	c.930T>G (p.Pro310=)
12	g.5045077T=	CA2013431054	KCNA5	c.930T= (p.Pro310=)
12	g.5045078A=	CA2013431055	KCNA5	c.931A= (p.Thr311=)
12	g.5045078A>C	CA383465434	KCNA5	c.931A>C (p.Thr311Pro)
12	g.5045078A>G	CA383465436	KCNA5	c.931A>G (p.Thr311Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.5045078A>T	CA383465435	KCNA5	c.931A>T (p.Thr311Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045079C>A	CA383465437	KCNA5	c.932C>A (p.Thr311Lys)	dbSNP gnomAD v4 COSMIC
12	g.5045079C=	CA2013431056	KCNA5	c.932C= (p.Thr311=)
12	g.5045079C>G	CA383465438	KCNA5	c.932C>G (p.Thr311Arg)	gnomAD v4
12	g.5045079C>T	CA6399761	KCNA5	c.932C>T (p.Thr311Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045079_5045080del	CA2617209908	KCNA5	c.932_933del (p.Thr311SerfsTer?)	gnomAD v4
12	g.5045080_5045085dup	CA912996252	KCNA5	c.933_938dup (p.Ala313_Pro314insValAla)	gnomAD v4
12	g.5045080G>A	CA478095322	KCNA5	c.933G>A (p.Thr311=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045080G>C	CA6399762	KCNA5	c.933G>C (p.Thr311=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045080G=	CA2013431057	KCNA5	c.933G= (p.Thr311=)
12	g.5045080G>T	CA478095321	KCNA5	c.933G>T (p.Thr311=)	gnomAD v4
12	g.5045081G>A	CA383465439	KCNA5	c.934G>A (p.Val312Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045081G>C	CA383465440	KCNA5	c.934G>C (p.Val312Leu)	gnomAD v4
12	g.5045081G=	CA2013431058	KCNA5	c.934G= (p.Val312=)
12	g.5045081G>T	CA383465441	KCNA5	c.934G>T (p.Val312Leu)
12	g.5045082T>A	CA383465442	KCNA5	c.935T>A (p.Val312Glu)
12	g.5045082T>C	CA383465443	KCNA5	c.935T>C (p.Val312Ala)
12	g.5045082T>G	CA383465444	KCNA5	c.935T>G (p.Val312Gly)
12	g.5045083G>A	CA478095327	KCNA5	c.936G>A (p.Val312=)	gnomAD v4
12	g.5045083G>C	CA478095325	KCNA5	c.936G>C (p.Val312=)
12	g.5045083G=	CA2013431059	KCNA5	c.936G= (p.Val312=)
12	g.5045083G>T	CA478095324	KCNA5	c.936G>T (p.Val312=)
12	g.5045084_5045089dup	CA2617209909	KCNA5	c.937_942dup (p.Pro314_Leu315insAlaPro)	dbSNP gnomAD v4
12	g.5045084G>A	CA383465446	KCNA5	c.937G>A (p.Ala313Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045084G>C	CA231868219	KCNA5	c.937G>C (p.Ala313Pro)	dbSNP gnomAD v4
12	g.5045084G=	CA2013431060	KCNA5	c.937G= (p.Ala313=)
12	g.5045084G>T	CA383465445	KCNA5	c.937G>T (p.Ala313Ser)	gnomAD v4
12	g.5045084_5045087dup	CA1139662475	KCNA5	c.937_940dup (p.Pro314ArgfsTer?)	ClinVar dbSNP
12	g.5045085C>A	CA383465447	KCNA5	c.938C>A (p.Ala313Glu)
12	g.5045085C>G	CA383465448	KCNA5	c.938C>G (p.Ala313Gly)
12	g.5045085C>T	CA383465449	KCNA5	c.938C>T (p.Ala313Val)	gnomAD v4
12	g.5045086A>C	CA478095328	KCNA5	c.939A>C (p.Ala313=)
12	g.5045086A>G	CA478095330	KCNA5	c.939A>G (p.Ala313=)
12	g.5045086A>T	CA478095329	KCNA5	c.939A>T (p.Ala313=)
12	g.5045087C>A	CA383465450	KCNA5	c.940C>A (p.Pro314Thr)
12	g.5045087C>G	CA383465451	KCNA5	c.940C>G (p.Pro314Ala)
12	g.5045087C>T	CA383465452	KCNA5	c.940C>T (p.Pro314Ser)	gnomAD v4
12	g.5045088C>A	CA383465453	KCNA5	c.941C>A (p.Pro314Gln)
12	g.5045088C=	CA2013431061	KCNA5	c.941C= (p.Pro314=)
12	g.5045088C>G	CA383465454	KCNA5	c.941C>G (p.Pro314Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045088C>T	CA231868221	KCNA5	c.941C>T (p.Pro314Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5045089G>A	CA6399764	KCNA5	c.942G>A (p.Pro314=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045089G>C	CA478095333	KCNA5	c.942G>C (p.Pro314=)	gnomAD v4
12	g.5045089G=	CA2013431062	KCNA5	c.942G= (p.Pro314=)
12	g.5045089G>T	CA6399763	KCNA5	c.942G>T (p.Pro314=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045090C>A	CA383465456	KCNA5	c.943C>A (p.Leu315Ile)	dbSNP gnomAD v2 gnomAD v4
12	g.5045090C=	CA2013431063	KCNA5	c.943C= (p.Leu315=)
12	g.5045090C>G	CA383465457	KCNA5	c.943C>G (p.Leu315Val)
12	g.5045090C>T	CA383465455	KCNA5	c.943C>T (p.Leu315Phe)
12	g.5045091T>A	CA383465458	KCNA5	c.944T>A (p.Leu315His)
12	g.5045091T>C	CA6399765	KCNA5	c.944T>C (p.Leu315Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045091T>G	CA383465459	KCNA5	c.944T>G (p.Leu315Arg)
12	g.5045091T=	CA2013431064	KCNA5	c.944T= (p.Leu315=)
12	g.5045092C>A	CA6399766	KCNA5	c.945C>A (p.Leu315=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045092C=	CA2013431065	KCNA5	c.945C= (p.Leu315=)
12	g.5045092C>G	CA478095335	KCNA5	c.945C>G (p.Leu315=)	dbSNP gnomAD v4
12	g.5045092C>T	CA478095336	KCNA5	c.945C>T (p.Leu315=)
12	g.5045093C>A	CA383465460	KCNA5	c.946C>A (p.Leu316Met)
12	g.5045093C>G	CA383465461	KCNA5	c.946C>G (p.Leu316Val)
12	g.5045093C>T	CA478095337	KCNA5	c.946C>T (p.Leu316=)	gnomAD v4
12	g.5045094T>A	CA383465462	KCNA5	c.947T>A (p.Leu316Gln)
12	g.5045094T>C	CA383465463	KCNA5	c.947T>C (p.Leu316Pro)
12	g.5045094T>G	CA383465464	KCNA5	c.947T>G (p.Leu316Arg)
12	g.5045095G>A	CA478095338	KCNA5	c.948G>A (p.Leu316=)	gnomAD v4
12	g.5045095G>C	CA478095339	KCNA5	c.948G>C (p.Leu316=)	gnomAD v4
12	g.5045095G>T	CA478095340	KCNA5	c.948G>T (p.Leu316=)
12	g.5045096C>A	CA383465465	KCNA5	c.949C>A (p.Pro317Thr)
12	g.5045096C=	CA2013431066	KCNA5	c.949C= (p.Pro317=)
12	g.5045096C>G	CA383465466	KCNA5	c.949C>G (p.Pro317Ala)
12	g.5045096C>T	CA231868230	KCNA5	c.949C>T (p.Pro317Ser)	dbSNP
12	g.5045097C>A	CA383465468	KCNA5	c.950C>A (p.Pro317His)
12	g.5045097C>G	CA383465469	KCNA5	c.950C>G (p.Pro317Arg)
12	g.5045097C>T	CA383465467	KCNA5	c.950C>T (p.Pro317Leu)	gnomAD v4
12	g.5045098C>A	CA478095344	KCNA5	c.951C>A (p.Pro317=)
12	g.5045098C>G	CA478095345	KCNA5	c.951C>G (p.Pro317=)
12	g.5045098C>T	CA478095346	KCNA5	c.951C>T (p.Pro317=)
12	g.5045099A>C	CA478095350	KCNA5	c.952A>C (p.Arg318=)
12	g.5045099A>G	CA383465470	KCNA5	c.952A>G (p.Arg318Gly)
12	g.5045099A>T	CA383465471	KCNA5	c.952A>T (p.Arg318Trp)
12	g.5045100G>A	CA383465472	KCNA5	c.953G>A (p.Arg318Lys)	gnomAD v4
12	g.5045100G>C	CA383465473	KCNA5	c.953G>C (p.Arg318Thr)
12	g.5045100G>T	CA383465474	KCNA5	c.953G>T (p.Arg318Met)
12	g.5045101G>A	CA478095351	KCNA5	c.954G>A (p.Arg318=)	COSMIC
12	g.5045101G>C	CA383465476	KCNA5	c.954G>C (p.Arg318Ser)
12	g.5045101G>T	CA383465475	KCNA5	c.954G>T (p.Arg318Ser)
12	g.5045102A=	CA2013431067	KCNA5	c.955A= (p.Thr319=)
12	g.5045102A>C	CA383465477	KCNA5	c.955A>C (p.Thr319Pro)
12	g.5045102A>G	CA383465478	KCNA5	c.955A>G (p.Thr319Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.5045102A>T	CA383465479	KCNA5	c.955A>T (p.Thr319Ser)
12	g.5045103C>A	CA383465480	KCNA5	c.956C>A (p.Thr319Asn)
12	g.5045103C>G	CA383465481	KCNA5	c.956C>G (p.Thr319Ser)
12	g.5045103C>T	CA383465482	KCNA5	c.956C>T (p.Thr319Ile)
12	g.5045104C>A	CA478095472	KCNA5	c.957C>A (p.Thr319=)	gnomAD v4
12	g.5045104C=	CA2013431068	KCNA5	c.957C= (p.Thr319=)
12	g.5045104C>G	CA478095475	KCNA5	c.957C>G (p.Thr319=)
12	g.5045104C>T	CA6399767	KCNA5	c.957C>T (p.Thr319=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045105C>A	CA383465483	KCNA5	c.958C>A (p.Leu320Met)
12	g.5045105C>G	CA383465484	KCNA5	c.958C>G (p.Leu320Val)
12	g.5045105C>T	CA478095477	KCNA5	c.958C>T (p.Leu320=)
12	g.5045106T>A	CA383465485	KCNA5	c.959T>A (p.Leu320Gln)
12	g.5045106T>C	CA231868240	KCNA5	c.959T>C (p.Leu320Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045106T>G	CA383465486	KCNA5	c.959T>G (p.Leu320Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045106T=	CA2013431069	KCNA5	c.959T= (p.Leu320=)
12	g.5045107G>A	CA6399768	KCNA5	c.960G>A (p.Leu320=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045107G>C	CA478095483	KCNA5	c.960G>C (p.Leu320=)
12	g.5045107G=	CA2013431070	KCNA5	c.960G= (p.Leu320=)
12	g.5045107G>T	CA478095484	KCNA5	c.960G>T (p.Leu320=)
12	g.5045108G>A	CA6399769	KCNA5	c.961G>A (p.Ala321Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045108G>C	CA383465487	KCNA5	c.961G>C (p.Ala321Pro)
12	g.5045108G=	CA2013431071	KCNA5	c.961G= (p.Ala321=)
12	g.5045108G>T	CA383465488	KCNA5	c.961G>T (p.Ala321Ser)
12	g.5045109C>A	CA383465489	KCNA5	c.962C>A (p.Ala321Asp)
12	g.5045109C=	CA2013431072	KCNA5	c.962C= (p.Ala321=)
12	g.5045109C>G	CA383465490	KCNA5	c.962C>G (p.Ala321Gly)
12	g.5045109C>T	CA6399770	KCNA5	c.962C>T (p.Ala321Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045110C>A	CA6399771	KCNA5	c.963C>A (p.Ala321=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045110C=	CA2013431073	KCNA5	c.963C= (p.Ala321=)
12	g.5045110C>G	CA478095487	KCNA5	c.963C>G (p.Ala321=)	dbSNP gnomAD v4
12	g.5045110C>T	CA478095486	KCNA5	c.963C>T (p.Ala321=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045111G>A	CA6399773	KCNA5	c.964G>A (p.Asp322Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045111G>C	CA6399772	KCNA5	c.964G>C (p.Asp322His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045111G=	CA2013431074	KCNA5	c.964G= (p.Asp322=)
12	g.5045111G>T	CA6399774	KCNA5	c.964G>T (p.Asp322Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045112A=	CA2013431075	KCNA5	c.965A= (p.Asp322=)
12	g.5045112A>C	CA383465491	KCNA5	c.965A>C (p.Asp322Ala)
12	g.5045112A>G	CA383465492	KCNA5	c.965A>G (p.Asp322Gly)	gnomAD v4
12	g.5045112A>T	CA231868287	KCNA5	c.965A>T (p.Asp322Val)	dbSNP
12	g.5045112_5045113delinsAC	CA2013431076	KCNA5	c.965_966delinsAC (p.Asp322=)
12	g.5045113C>A	CA383465493	KCNA5	c.966C>A (p.Asp322Glu)
12	g.5045113C=	CA2013431077	KCNA5	c.966C= (p.Asp322=)
12	g.5045113C>G	CA236721	KCNA5	c.966C>G (p.Asp322Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045113C>T	CA478095491	KCNA5	c.966C>T (p.Asp322=)
12	g.5045116dup	CA2741226806	KCNA5	c.969dup (p.Phe324LeufsTer?)
12	g.5045116del	CA2013431078	KCNA5	c.969del (p.Phe324SerfsTer?)	dbSNP
12	g.5045114C>A	CA6399776	KCNA5	c.967C>A (p.Pro323Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045114C=	CA2013431079	KCNA5	c.967C= (p.Pro323=)
12	g.5045114C>G	CA383465494	KCNA5	c.967C>G (p.Pro323Ala)	gnomAD v4
12	g.5045114C>T	CA6399775	KCNA5	c.967C>T (p.Pro323Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched