Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044294G>A	CA478094918	KCNA5	c.147G>A (p.Pro49=)	gnomAD v4
12	g.5044294G>C	CA6399547	KCNA5	c.147G>C (p.Pro49=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044294G=	CA2013430582	KCNA5	c.147G= (p.Pro49=)
12	g.5044294G>T	CA478094920	KCNA5	c.147G>T (p.Pro49=)	dbSNP gnomAD v4
12	g.5044295G>A	CA383461991	KCNA5	c.148G>A (p.Ala50Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044295G>C	CA6399548	KCNA5	c.148G>C (p.Ala50Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044295G=	CA2013430583	KCNA5	c.148G= (p.Ala50=)
12	g.5044295G>T	CA383461992	KCNA5	c.148G>T (p.Ala50Ser)	gnomAD v4
12	g.5044296C>A	CA383461993	KCNA5	c.149C>A (p.Ala50Glu)	gnomAD v4
12	g.5044296C=	CA2013430584	KCNA5	c.149C= (p.Ala50=)
12	g.5044296C>G	CA383461994	KCNA5	c.149C>G (p.Ala50Gly)	dbSNP gnomAD v3 gnomAD v4
12	g.5044296C>T	CA383461995	KCNA5	c.149C>T (p.Ala50Val)	gnomAD v4
12	g.5044297G>A	CA478094925	KCNA5	c.150G>A (p.Ala50=)	dbSNP gnomAD v4
12	g.5044297G>C	CA478094923	KCNA5	c.150G>C (p.Ala50=)	dbSNP gnomAD v4
12	g.5044297G=	CA2013430585	KCNA5	c.150G= (p.Ala50=)
12	g.5044297G>T	CA6399549	KCNA5	c.150G>T (p.Ala50=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044298C>A	CA383461996	KCNA5	c.151C>A (p.Pro51Thr)	gnomAD v4
12	g.5044298C=	CA2013430586	KCNA5	c.151C= (p.Pro51=)
12	g.5044298C>G	CA383461997	KCNA5	c.151C>G (p.Pro51Ala)
12	g.5044298C>T	CA383461998	KCNA5	c.151C>T (p.Pro51Ser)	dbSNP gnomAD v2
12	g.5044299C>A	CA383461999	KCNA5	c.152C>A (p.Pro51Gln)	gnomAD v4
12	g.5044299C=	CA2013430587	KCNA5	c.152C= (p.Pro51=)
12	g.5044299C>G	CA383462000	KCNA5	c.152C>G (p.Pro51Arg)
12	g.5044299C>T	CA6399550	KCNA5	c.152C>T (p.Pro51Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044299_5044300delinsCA	CA2013430588	KCNA5	c.152_153delinsCA (p.Pro51=)
12	g.5044300A>C	CA478094931	KCNA5	c.153A>C (p.Pro51=)
12	g.5044300A>G	CA478094929	KCNA5	c.153A>G (p.Pro51=)	gnomAD v4
12	g.5044300A>T	CA478094930	KCNA5	c.153A>T (p.Pro51=)
12	g.5044302del	CA231866829	KCNA5	c.155del (p.Lys52ArgfsTer?)	dbSNP
12	g.5044301A=	CA2013430589	KCNA5	c.154A= (p.Lys52=)
12	g.5044301A>C	CA383462001	KCNA5	c.154A>C (p.Lys52Gln)	dbSNP gnomAD v3 gnomAD v4
12	g.5044301A>G	CA383462002	KCNA5	c.154A>G (p.Lys52Glu)
12	g.5044301A>T	CA383462003	KCNA5	c.154A>T (p.Lys52Ter)
12	g.5044302A>C	CA383462004	KCNA5	c.155A>C (p.Lys52Thr)
12	g.5044302A>G	CA383462005	KCNA5	c.155A>G (p.Lys52Arg)	gnomAD v4
12	g.5044302A>T	CA383462006	KCNA5	c.155A>T (p.Lys52Met)
12	g.5044303G>A	CA478094935	KCNA5	c.156G>A (p.Lys52=)
12	g.5044303G>C	CA383462007	KCNA5	c.156G>C (p.Lys52Asn)	gnomAD v4
12	g.5044303G=	CA2013430590	KCNA5	c.156G= (p.Lys52=)
12	g.5044303G>T	CA6399551	KCNA5	c.156G>T (p.Lys52Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044304G>A	CA383462009	KCNA5	c.157G>A (p.Gly53Arg)	dbSNP gnomAD v4
12	g.5044304G>C	CA383462010	KCNA5	c.157G>C (p.Gly53Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5044304G=	CA2013430591	KCNA5	c.157G= (p.Gly53=)
12	g.5044304G>T	CA383462008	KCNA5	c.157G>T (p.Gly53Trp)	gnomAD v4
12	g.5044305G>A	CA383462011	KCNA5	c.158G>A (p.Gly53Glu)	ClinVar dbSNP gnomAD v4
12	g.5044305G>C	CA383462012	KCNA5	c.158G>C (p.Gly53Ala)
12	g.5044305G=	CA2013430592	KCNA5	c.158G= (p.Gly53=)
12	g.5044305G>T	CA6399552	KCNA5	c.158G>T (p.Gly53Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044306G>A	CA478094937	KCNA5	c.159G>A (p.Gly53=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044306G>C	CA478094939	KCNA5	c.159G>C (p.Gly53=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044306G=	CA2013430593	KCNA5	c.159G= (p.Gly53=)
12	g.5044306G>T	CA478094940	KCNA5	c.159G>T (p.Gly53=)
12	g.5044307C>A	CA383462013	KCNA5	c.160C>A (p.Arg54Ser)	gnomAD v4
12	g.5044307C=	CA2013430594	KCNA5	c.160C= (p.Arg54=)
12	g.5044307C>G	CA383462014	KCNA5	c.160C>G (p.Arg54Gly)
12	g.5044307C>T	CA383462015	KCNA5	c.160C>T (p.Arg54Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044308G>A	CA383462016	KCNA5	c.161G>A (p.Arg54His)	gnomAD v4
12	g.5044308G>C	CA383462017	KCNA5	c.161G>C (p.Arg54Pro)
12	g.5044308G>T	CA383462018	KCNA5	c.161G>T (p.Arg54Leu)	gnomAD v4
12	g.5044309C>A	CA478094943	KCNA5	c.162C>A (p.Arg54=)	gnomAD v4
12	g.5044309C=	CA2013430595	KCNA5	c.162C= (p.Arg54=)
12	g.5044309C>G	CA478094944	KCNA5	c.162C>G (p.Arg54=)	dbSNP gnomAD v4
12	g.5044309C>T	CA478094942	KCNA5	c.162C>T (p.Arg54=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044310G>A	CA231866839	KCNA5	c.163G>A (p.Gly55Ser)	dbSNP gnomAD v4
12	g.5044310G>C	CA383462019	KCNA5	c.163G>C (p.Gly55Arg)	dbSNP gnomAD v4
12	g.5044310G=	CA2013430596	KCNA5	c.163G= (p.Gly55=)
12	g.5044310G>T	CA383462020	KCNA5	c.163G>T (p.Gly55Cys)	gnomAD v4
12	g.5044311G>A	CA383462023	KCNA5	c.164G>A (p.Gly55Asp)	dbSNP gnomAD v3 gnomAD v4
12	g.5044311G>C	CA383462021	KCNA5	c.164G>C (p.Gly55Ala)
12	g.5044311G=	CA2013430597	KCNA5	c.164G= (p.Gly55=)
12	g.5044311G>T	CA383462022	KCNA5	c.164G>T (p.Gly55Val)	gnomAD v4
12	g.5044312C>A	CA231866845	KCNA5	c.165C>A (p.Gly55=)	dbSNP gnomAD v4
12	g.5044312C=	CA2013430598	KCNA5	c.165C= (p.Gly55=)
12	g.5044312C>G	CA478094948	KCNA5	c.165C>G (p.Gly55=)
12	g.5044312C>T	CA478094949	KCNA5	c.165C>T (p.Gly55=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044313G>A	CA6399553	KCNA5	c.166G>A (p.Ala56Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044313G>C	CA383462024	KCNA5	c.166G>C (p.Ala56Pro)
12	g.5044313G=	CA2013430599	KCNA5	c.166G= (p.Ala56=)
12	g.5044313G>T	CA383462025	KCNA5	c.166G>T (p.Ala56Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044314C>A	CA383462026	KCNA5	c.167C>A (p.Ala56Glu)	gnomAD v4
12	g.5044314C=	CA2013430600	KCNA5	c.167C= (p.Ala56=)
12	g.5044314C>G	CA383462027	KCNA5	c.167C>G (p.Ala56Gly)	dbSNP gnomAD v3 gnomAD v4
12	g.5044314C>T	CA383462028	KCNA5	c.167C>T (p.Ala56Val)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044315G>A	CA478094951	KCNA5	c.168G>A (p.Ala56=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044315G>C	CA478094950	KCNA5	c.168G>C (p.Ala56=)
12	g.5044315G=	CA2013430601	KCNA5	c.168G= (p.Ala56=)
12	g.5044315G>T	CA231866858	KCNA5	c.168G>T (p.Ala56=)	dbSNP gnomAD v4
12	g.5044316C>A	CA383462029	KCNA5	c.169C>A (p.Gln57Lys)	gnomAD v4
12	g.5044316C=	CA2013430603	KCNA5	c.169C= (p.Gln57=)
12	g.5044316C>G	CA383462030	KCNA5	c.169C>G (p.Gln57Glu)
12	g.5044316C>T	CA383462031	KCNA5	c.169C>T (p.Gln57Ter)	dbSNP gnomAD v4
12	g.5044316_5044318delinsCAG	CA2013430602	KCNA5	c.169_171delinsCAG (p.Gln57=)
12	g.5044317A=	CA2013430605	KCNA5	c.170A= (p.Gln57=)
12	g.5044317A>C	CA383462032	KCNA5	c.170A>C (p.Gln57Pro)
12	g.5044317A>G	CA231866862	KCNA5	c.170A>G (p.Gln57Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044317A>T	CA383462033	KCNA5	c.170A>T (p.Gln57Leu)
12	g.5044322_5044323del	CA2013430604	KCNA5	c.175_176del (p.Asp59ArgfsTer?)	dbSNP gnomAD v4
12	g.5044318G>A	CA478094954	KCNA5	c.171G>A (p.Gln57=)	COSMIC
12	g.5044318G>C	CA383462035	KCNA5	c.171G>C (p.Gln57His)
12	g.5044318G>T	CA383462034	KCNA5	c.171G>T (p.Gln57His)	gnomAD v4
12	g.5044319A=	CA2013430606	KCNA5	c.172A= (p.Arg58=)
12	g.5044319A>C	CA478094955	KCNA5	c.172A>C (p.Arg58=)
12	g.5044319A>G	CA231866870	KCNA5	c.172A>G (p.Arg58Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.5044319A>T	CA383462036	KCNA5	c.172A>T (p.Arg58Ter)
12	g.5044320G>A	CA383462037	KCNA5	c.173G>A (p.Arg58Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044320G>C	CA383462038	KCNA5	c.173G>C (p.Arg58Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5044320G=	CA2013430607	KCNA5	c.173G= (p.Arg58=)
12	g.5044320G>T	CA383462039	KCNA5	c.173G>T (p.Arg58Ile)	ClinVar dbSNP gnomAD v4
12	g.5044321A>C	CA383462040	KCNA5	c.174A>C (p.Arg58Ser)
12	g.5044321A>G	CA478094956	KCNA5	c.174A>G (p.Arg58=)
12	g.5044321A>T	CA383462041	KCNA5	c.174A>T (p.Arg58Ser)
12	g.5044322G>A	CA383462044	KCNA5	c.175G>A (p.Asp59Asn)
12	g.5044322G>C	CA383462043	KCNA5	c.175G>C (p.Asp59His)	dbSNP gnomAD v2 gnomAD v4
12	g.5044322G=	CA2013430608	KCNA5	c.175G= (p.Asp59=)
12	g.5044322G>T	CA383462042	KCNA5	c.175G>T (p.Asp59Tyr)
12	g.5044323A=	CA2013430610	KCNA5	c.176A= (p.Asp59=)
12	g.5044323A>C	CA383462045	KCNA5	c.176A>C (p.Asp59Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.5044323A>G	CA383462046	KCNA5	c.176A>G (p.Asp59Gly)	gnomAD v4
12	g.5044323A>T	CA383462047	KCNA5	c.176A>T (p.Asp59Val)
12	g.5044323_5044339delinsACGCGGACTCGGGAGTG	CA2013430609	KCNA5	c.176_192delinsACGCGGACTCGGGAGTG (p.Asp59=)
12	g.5044324C>A	CA6399555	KCNA5	c.177C>A (p.Asp59Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044324C=	CA2013430611	KCNA5	c.177C= (p.Asp59=)
12	g.5044324C>G	CA383462048	KCNA5	c.177C>G (p.Asp59Glu)	dbSNP
12	g.5044324C>T	CA478094961	KCNA5	c.177C>T (p.Asp59=)	gnomAD v4
12	g.5044326_5044341del	CA6399554	KCNA5	c.179_194del (p.Ala60GlyfsTer?)	dbSNP ExAC gnomAD v4
12	g.5044325G>A	CA383462049	KCNA5	c.178G>A (p.Ala60Thr)	gnomAD v4
12	g.5044325G>C	CA383462051	KCNA5	c.178G>C (p.Ala60Pro)
12	g.5044325G>T	CA383462050	KCNA5	c.178G>T (p.Ala60Ser)	ClinVar gnomAD v4
12	g.5044325_5044358delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC	CA2013430612	KCNA5	c.178_211delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC (p.Ala60=)
12	g.5044326C>A	CA383462052	KCNA5	c.179C>A (p.Ala60Glu)
12	g.5044326C=	CA2013430613	KCNA5	c.179C= (p.Ala60=)
12	g.5044326C>G	CA383462053	KCNA5	c.179C>G (p.Ala60Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044326C>T	CA383462054	KCNA5	c.179C>T (p.Ala60Val)	dbSNP gnomAD v2 gnomAD v4
12	g.5044331_5044363dup	CA2617209887	KCNA5	c.184_216dup (p.Asp72_Pro73insSerGlyValArgProLeuProProLeuProAsp)	gnomAD v4
12	g.5044331_5044363del	CA6399556	KCNA5	c.184_216del (p.Ser62_Asp72del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044392_5044393insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC	CA2617209886	KCNA5	c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC (p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuProAspSerGlyValArgProLeuProProLeuProAspProGlyValArgProLeuProProLeuPro)	gnomAD v4
12	g.5044327G>A	CA6399557	KCNA5	c.180G>A (p.Ala60=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044327G>C	CA478094965	KCNA5	c.180G>C (p.Ala60=)
12	g.5044327G=	CA2013430614	KCNA5	c.180G= (p.Ala60=)
12	g.5044327G>T	CA478094966	KCNA5	c.180G>T (p.Ala60=)	gnomAD v4
12	g.5044328G>A	CA383462055	KCNA5	c.181G>A (p.Asp61Asn)
12	g.5044328G>C	CA383462056	KCNA5	c.181G>C (p.Asp61His)	gnomAD v4
12	g.5044328G=	CA2013430615	KCNA5	c.181G= (p.Asp61=)
12	g.5044328G>T	CA231866906	KCNA5	c.181G>T (p.Asp61Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044329A>C	CA383462057	KCNA5	c.182A>C (p.Asp61Ala)
12	g.5044329A>G	CA383462058	KCNA5	c.182A>G (p.Asp61Gly)
12	g.5044329A>T	CA383462059	KCNA5	c.182A>T (p.Asp61Val)
12	g.5044330C>A	CA383462060	KCNA5	c.183C>A (p.Asp61Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.5044330C=	CA2013430616	KCNA5	c.183C= (p.Asp61=)
12	g.5044330C>G	CA383462061	KCNA5	c.183C>G (p.Asp61Glu)
12	g.5044330C>T	CA478094968	KCNA5	c.183C>T (p.Asp61=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044331T>A	CA383462062	KCNA5	c.184T>A (p.Ser62Thr)	gnomAD v4
12	g.5044331T>C	CA383462063	KCNA5	c.184T>C (p.Ser62Pro)	dbSNP gnomAD v4
12	g.5044331T>G	CA383462064	KCNA5	c.184T>G (p.Ser62Ala)	gnomAD v4
12	g.5044331T=	CA2013430618	KCNA5	c.184T= (p.Ser62=)
12	g.5044331_5044364delinsTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC	CA2013430617	KCNA5	c.184_217delinsTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC (p.Ser62=)
12	g.5044332C>A	CA383462065	KCNA5	c.185C>A (p.Ser62Ter)	gnomAD v4
12	g.5044332C>G	CA383462066	KCNA5	c.185C>G (p.Ser62Trp)	gnomAD v4
12	g.5044332C>T	CA383462067	KCNA5	c.185C>T (p.Ser62Leu)	gnomAD v4
12	g.5044392_5044393insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC	CA2617209888	KCNA5	c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC (p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuProAspProGlyValArgProLeuProProLeuPro)	gnomAD v4
12	g.5044360_5044392dup	CA603482564	KCNA5	c.213_245dup (p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuPro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044360_5044392del	CA6399558	KCNA5	c.213_245del (p.Asp72_Pro82del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044333G>A	CA478094972	KCNA5	c.186G>A (p.Ser62=)	ClinVar dbSNP gnomAD v4
12	g.5044333G>C	CA6399559	KCNA5	c.186G>C (p.Ser62=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044333G=	CA2013430619	KCNA5	c.186G= (p.Ser62=)
12	g.5044333G>T	CA478094971	KCNA5	c.186G>T (p.Ser62=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044334G>A	CA383462068	KCNA5	c.187G>A (p.Gly63Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044334G>C	CA383462069	KCNA5	c.187G>C (p.Gly63Arg)	dbSNP gnomAD v2
12	g.5044334G=	CA2013430620	KCNA5	c.187G= (p.Gly63=)
12	g.5044334G>T	CA383462070	KCNA5	c.187G>T (p.Gly63Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044335G>A	CA383462071	KCNA5	c.188G>A (p.Gly63Glu)	gnomAD v4
12	g.5044335G>C	CA383462072	KCNA5	c.188G>C (p.Gly63Ala)
12	g.5044335G=	CA2013430621	KCNA5	c.188G= (p.Gly63=)
12	g.5044335G>T	CA6399560	KCNA5	c.188G>T (p.Gly63Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044336A>C	CA478094975	KCNA5	c.189A>C (p.Gly63=)
12	g.5044336A>G	CA478094976	KCNA5	c.189A>G (p.Gly63=)	gnomAD v4
12	g.5044336A>T	CA478094977	KCNA5	c.189A>T (p.Gly63=)
12	g.5044337G>A	CA383462073	KCNA5	c.190G>A (p.Val64Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044337G>C	CA383462075	KCNA5	c.190G>C (p.Val64Leu)	gnomAD v4
12	g.5044337G=	CA2013430622	KCNA5	c.190G= (p.Val64=)
12	g.5044337G>T	CA383462074	KCNA5	c.190G>T (p.Val64Leu)	gnomAD v4
12	g.5044338T>A	CA383462076	KCNA5	c.191T>A (p.Val64Glu)	gnomAD v4
12	g.5044338T>C	CA383462077	KCNA5	c.191T>C (p.Val64Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044338T>G	CA383462078	KCNA5	c.191T>G (p.Val64Gly)	dbSNP gnomAD v2
12	g.5044338T=	CA2013430623	KCNA5	c.191T= (p.Val64=)
12	g.5044339G>A	CA478094980	KCNA5	c.192G>A (p.Val64=)	dbSNP gnomAD v4
12	g.5044339G>C	CA478094978	KCNA5	c.192G>C (p.Val64=)
12	g.5044339G=	CA2013430624	KCNA5	c.192G= (p.Val64=)
12	g.5044339G>T	CA478094979	KCNA5	c.192G>T (p.Val64=)	gnomAD v4
12	g.5044340C>A	CA478094983	KCNA5	c.193C>A (p.Arg65=)	gnomAD v4
12	g.5044340C=	CA2013430625	KCNA5	c.193C= (p.Arg65=)
12	g.5044340C>G	CA383462079	KCNA5	c.193C>G (p.Arg65Gly)
12	g.5044340C>T	CA6399561	KCNA5	c.193C>T (p.Arg65Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044341G>A	CA383462080	KCNA5	c.194G>A (p.Arg65Gln)	dbSNP gnomAD v4
12	g.5044341G>C	CA6399562	KCNA5	c.194G>C (p.Arg65Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044341G=	CA2013430626	KCNA5	c.194G= (p.Arg65=)
12	g.5044341G>T	CA383462081	KCNA5	c.194G>T (p.Arg65Leu)	gnomAD v4
12	g.5044342G>A	CA231866930	KCNA5	c.195G>A (p.Arg65=)	dbSNP gnomAD v4
12	g.5044342G>C	CA478094985	KCNA5	c.195G>C (p.Arg65=)
12	g.5044342G=	CA2013430627	KCNA5	c.195G= (p.Arg65=)
12	g.5044342G>T	CA478094986	KCNA5	c.195G>T (p.Arg65=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044343C>A	CA383462082	KCNA5	c.196C>A (p.Pro66Thr)	gnomAD v4
12	g.5044343C=	CA2013430628	KCNA5	c.196C= (p.Pro66=)
12	g.5044343C>G	CA383462083	KCNA5	c.196C>G (p.Pro66Ala)
12	g.5044343C>T	CA6399563	KCNA5	c.196C>T (p.Pro66Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044344C>A	CA383462086	KCNA5	c.197C>A (p.Pro66His)	gnomAD v4
12	g.5044344C>G	CA383462085	KCNA5	c.197C>G (p.Pro66Arg)
12	g.5044344C>T	CA383462084	KCNA5	c.197C>T (p.Pro66Leu)	gnomAD v4
12	g.5044345C>A	CA478094989	KCNA5	c.198C>A (p.Pro66=)	gnomAD v4
12	g.5044345C=	CA2013430629	KCNA5	c.198C= (p.Pro66=)
12	g.5044345C>G	CA478094992	KCNA5	c.198C>G (p.Pro66=)	gnomAD v4
12	g.5044345C>T	CA478094991	KCNA5	c.198C>T (p.Pro66=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044346T>A	CA383462087	KCNA5	c.199T>A (p.Leu67Met)
12	g.5044346T>C	CA478094993	KCNA5	c.199T>C (p.Leu67=)
12	g.5044346T>G	CA383462088	KCNA5	c.199T>G (p.Leu67Val)
12	g.5044347T>A	CA383462089	KCNA5	c.200T>A (p.Leu67Ter)
12	g.5044347T>C	CA383462091	KCNA5	c.200T>C (p.Leu67Ser)
12	g.5044347T>G	CA383462090	KCNA5	c.200T>G (p.Leu67Trp)
12	g.5044348G>A	CA478094994	KCNA5	c.201G>A (p.Leu67=)	gnomAD v4
12	g.5044348G>C	CA383462092	KCNA5	c.201G>C (p.Leu67Phe)
12	g.5044348G>T	CA383462093	KCNA5	c.201G>T (p.Leu67Phe)	gnomAD v4
12	g.5044349C>A	CA383462094	KCNA5	c.202C>A (p.Pro68Thr)	dbSNP gnomAD v4
12	g.5044349C=	CA2013430630	KCNA5	c.202C= (p.Pro68=)
12	g.5044349C>G	CA383462095	KCNA5	c.202C>G (p.Pro68Ala)
12	g.5044349C>T	CA383462096	KCNA5	c.202C>T (p.Pro68Ser)	gnomAD v4
12	g.5044350C>A	CA383462097	KCNA5	c.203C>A (p.Pro68His)
12	g.5044350C>G	CA383462098	KCNA5	c.203C>G (p.Pro68Arg)
12	g.5044350C>T	CA383462099	KCNA5	c.203C>T (p.Pro68Leu)
12	g.5044351T>A	CA478094996	KCNA5	c.204T>A (p.Pro68=)
12	g.5044351T>C	CA478094997	KCNA5	c.204T>C (p.Pro68=)
12	g.5044351T>G	CA478094998	KCNA5	c.204T>G (p.Pro68=)
12	g.5044352C>A	CA383462100	KCNA5	c.205C>A (p.Pro69Thr)	gnomAD v4
12	g.5044352C>G	CA383462101	KCNA5	c.205C>G (p.Pro69Ala)	gnomAD v4
12	g.5044352C>T	CA383462102	KCNA5	c.205C>T (p.Pro69Ser)
12	g.5044353C>A	CA383462104	KCNA5	c.206C>A (p.Pro69Gln)	dbSNP gnomAD v4
12	g.5044353C=	CA2013430631	KCNA5	c.206C= (p.Pro69=)
12	g.5044353C>G	CA383462103	KCNA5	c.206C>G (p.Pro69Arg)	gnomAD v4
12	g.5044353C>T	CA6399564	KCNA5	c.206C>T (p.Pro69Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044354G>A	CA478094999	KCNA5	c.207G>A (p.Pro69=)	gnomAD v4
12	g.5044354G>C	CA478095000	KCNA5	c.207G>C (p.Pro69=)	gnomAD v4
12	g.5044354G=	CA2013430632	KCNA5	c.207G= (p.Pro69=)
12	g.5044354G>T	CA6399565	KCNA5	c.207G>T (p.Pro69=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044355C>A	CA383462105	KCNA5	c.208C>A (p.Leu70Met)	gnomAD v4
12	g.5044355C>G	CA383462106	KCNA5	c.208C>G (p.Leu70Val)
12	g.5044355C>T	CA478095003	KCNA5	c.208C>T (p.Leu70=)	gnomAD v4
12	g.5044356T>A	CA383462107	KCNA5	c.209T>A (p.Leu70Gln)
12	g.5044356T>C	CA383462108	KCNA5	c.209T>C (p.Leu70Pro)	dbSNP gnomAD v2
12	g.5044356T>G	CA383462109	KCNA5	c.209T>G (p.Leu70Arg)
12	g.5044356T=	CA2013430633	KCNA5	c.209T= (p.Leu70=)
12	g.5044357G>A	CA478095004	KCNA5	c.210G>A (p.Leu70=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044357G>C	CA478095006	KCNA5	c.210G>C (p.Leu70=)	gnomAD v4
12	g.5044357G=	CA2013430634	KCNA5	c.210G= (p.Leu70=)
12	g.5044357G>T	CA478095005	KCNA5	c.210G>T (p.Leu70=)	gnomAD v4
12	g.5044358C>A	CA383462110	KCNA5	c.211C>A (p.Pro71Thr)	gnomAD v4
12	g.5044358C>G	CA383462111	KCNA5	c.211C>G (p.Pro71Ala)
12	g.5044358C>T	CA383462112	KCNA5	c.211C>T (p.Pro71Ser)	gnomAD v4
12	g.5044359C>A	CA383462113	KCNA5	c.212C>A (p.Pro71Gln)	gnomAD v4
12	g.5044359C=	CA2013430635	KCNA5	c.212C= (p.Pro71=)
12	g.5044359C>G	CA6399567	KCNA5	c.212C>G (p.Pro71Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044359C>T	CA6399566	KCNA5	c.212C>T (p.Pro71Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044360G>A	CA231866941	KCNA5	c.213G>A (p.Pro71=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044360G>C	CA478095010	KCNA5	c.213G>C (p.Pro71=)
12	g.5044360G=	CA2013430636	KCNA5	c.213G= (p.Pro71=)
12	g.5044360G>T	CA478095009	KCNA5	c.213G>T (p.Pro71=)	dbSNP gnomAD v4
12	g.5044361G>A	CA383462115	KCNA5	c.214G>A (p.Asp72Asn)
12	g.5044361G>C	CA6399568	KCNA5	c.214G>C (p.Asp72His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044361G=	CA2013430637	KCNA5	c.214G= (p.Asp72=)
12	g.5044361G>T	CA383462114	KCNA5	c.214G>T (p.Asp72Tyr)	gnomAD v4
12	g.5044362A>C	CA383462116	KCNA5	c.215A>C (p.Asp72Ala)
12	g.5044362A>G	CA383462117	KCNA5	c.215A>G (p.Asp72Gly)
12	g.5044362A>T	CA383462118	KCNA5	c.215A>T (p.Asp72Val)
12	g.5044363C>A	CA383462119	KCNA5	c.216C>A (p.Asp72Glu)
12	g.5044363C=	CA2013430638	KCNA5	c.216C= (p.Asp72=)
12	g.5044363C>G	CA231866949	KCNA5	c.216C>G (p.Asp72Glu)	dbSNP gnomAD v4
12	g.5044363C>T	CA6399569	KCNA5	c.216C>T (p.Asp72=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044364C>A	CA383462120	KCNA5	c.217C>A (p.Pro73Thr)
12	g.5044364C=	CA2013430639	KCNA5	c.217C= (p.Pro73=)
12	g.5044364C>G	CA383462121	KCNA5	c.217C>G (p.Pro73Ala)	dbSNP gnomAD v4
12	g.5044364C>T	CA231866955	KCNA5	c.217C>T (p.Pro73Ser)	ClinVar dbSNP gnomAD v4
12	g.5044365C>A	CA383462122	KCNA5	c.218C>A (p.Pro73Gln)	gnomAD v4
12	g.5044365C=	CA2013430640	KCNA5	c.218C= (p.Pro73=)
12	g.5044365C>G	CA383462123	KCNA5	c.218C>G (p.Pro73Arg)	gnomAD v4
12	g.5044365C>T	CA383462124	KCNA5	c.218C>T (p.Pro73Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044366G>A	CA231866961	KCNA5	c.219G>A (p.Pro73=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044366G>C	CA478095012	KCNA5	c.219G>C (p.Pro73=)	gnomAD v4
12	g.5044366G=	CA2013430641	KCNA5	c.219G= (p.Pro73=)
12	g.5044366G>T	CA478095013	KCNA5	c.219G>T (p.Pro73=)	gnomAD v4
12	g.5044367G>A	CA6399570	KCNA5	c.220G>A (p.Gly74Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044367G>C	CA383462125	KCNA5	c.220G>C (p.Gly74Arg)
12	g.5044367G=	CA2013430642	KCNA5	c.220G= (p.Gly74=)
12	g.5044367G>T	CA383462126	KCNA5	c.220G>T (p.Gly74Ter)
12	g.5044368G>A	CA6399571	KCNA5	c.221G>A (p.Gly74Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044368G>C	CA383462127	KCNA5	c.221G>C (p.Gly74Ala)	gnomAD v4
12	g.5044368G=	CA2013430643	KCNA5	c.221G= (p.Gly74=)
12	g.5044368G>T	CA383462128	KCNA5	c.221G>T (p.Gly74Val)	gnomAD v4
12	g.5044369A>C	CA478095015	KCNA5	c.222A>C (p.Gly74=)
12	g.5044369A>G	CA478095016	KCNA5	c.222A>G (p.Gly74=)	gnomAD v4
12	g.5044369A>T	CA478095017	KCNA5	c.222A>T (p.Gly74=)
12	g.5044370G>A	CA383462129	KCNA5	c.223G>A (p.Val75Met)	COSMIC
12	g.5044370G>C	CA383462130	KCNA5	c.223G>C (p.Val75Leu)
12	g.5044370G>T	CA383462131	KCNA5	c.223G>T (p.Val75Leu)
12	g.5044371T>A	CA383462132	KCNA5	c.224T>A (p.Val75Glu)	gnomAD v4
12	g.5044371T>C	CA383462133	KCNA5	c.224T>C (p.Val75Ala)	gnomAD v4
12	g.5044371T>G	CA383462134	KCNA5	c.224T>G (p.Val75Gly)
12	g.5044372G>A	CA478095018	KCNA5	c.225G>A (p.Val75=)	dbSNP gnomAD v2
12	g.5044372G>C	CA478095019	KCNA5	c.225G>C (p.Val75=)
12	g.5044372G=	CA2013430644	KCNA5	c.225G= (p.Val75=)
12	g.5044372G>T	CA478095020	KCNA5	c.225G>T (p.Val75=)
12	g.5044373C>A	CA478095021	KCNA5	c.226C>A (p.Arg76=)	gnomAD v4
12	g.5044373C>G	CA383462135	KCNA5	c.226C>G (p.Arg76Gly)
12	g.5044373C>T	CA383462136	KCNA5	c.226C>T (p.Arg76Trp)	gnomAD v4
12	g.5044374G>A	CA383462139	KCNA5	c.227G>A (p.Arg76Gln)	dbSNP gnomAD v2 gnomAD v4
12	g.5044374G>C	CA383462138	KCNA5	c.227G>C (p.Arg76Pro)
12	g.5044374G=	CA2013430645	KCNA5	c.227G= (p.Arg76=)
12	g.5044374G>T	CA383462137	KCNA5	c.227G>T (p.Arg76Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044375G>A	CA478095023	KCNA5	c.228G>A (p.Arg76=)	gnomAD v4
12	g.5044375G>C	CA478095024	KCNA5	c.228G>C (p.Arg76=)
12	g.5044375G>T	CA478095025	KCNA5	c.228G>T (p.Arg76=)	gnomAD v4
12	g.5044376C>A	CA383462140	KCNA5	c.229C>A (p.Pro77Thr)	gnomAD v4
12	g.5044376C=	CA2013430646	KCNA5	c.229C= (p.Pro77=)
12	g.5044376C>G	CA383462141	KCNA5	c.229C>G (p.Pro77Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044376C>T	CA6399572	KCNA5	c.229C>T (p.Pro77Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044377C>A	CA383462142	KCNA5	c.230C>A (p.Pro77His)
12	g.5044377C=	CA2013430647	KCNA5	c.230C= (p.Pro77=)
12	g.5044377C>G	CA231866981	KCNA5	c.230C>G (p.Pro77Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044377C>T	CA383462143	KCNA5	c.230C>T (p.Pro77Leu)
12	g.5044378C>A	CA478095027	KCNA5	c.231C>A (p.Pro77=)	gnomAD v4
12	g.5044378C=	CA2013430648	KCNA5	c.231C= (p.Pro77=)
12	g.5044378C>G	CA478095028	KCNA5	c.231C>G (p.Pro77=)
12	g.5044378C>T	CA6399573	KCNA5	c.231C>T (p.Pro77=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044379T>A	CA383462144	KCNA5	c.232T>A (p.Leu78Met)
12	g.5044379T>C	CA478095029	KCNA5	c.232T>C (p.Leu78=)	gnomAD v4
12	g.5044379T>G	CA383462145	KCNA5	c.232T>G (p.Leu78Val)
12	g.5044380T>A	CA383462146	KCNA5	c.233T>A (p.Leu78Ter)
12	g.5044380T>C	CA383462147	KCNA5	c.233T>C (p.Leu78Ser)
12	g.5044380T>G	CA383462148	KCNA5	c.233T>G (p.Leu78Trp)
12	g.5044381G>A	CA478095031	KCNA5	c.234G>A (p.Leu78=)
12	g.5044381G>C	CA383462149	KCNA5	c.234G>C (p.Leu78Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044381G=	CA2013430649	KCNA5	c.234G= (p.Leu78=)
12	g.5044381G>T	CA383462150	KCNA5	c.234G>T (p.Leu78Phe)
12	g.5044382C>A	CA383462153	KCNA5	c.235C>A (p.Pro79Thr)	gnomAD v4 COSMIC
12	g.5044382C=	CA2013430650	KCNA5	c.235C= (p.Pro79=)
12	g.5044382C>G	CA383462152	KCNA5	c.235C>G (p.Pro79Ala)
12	g.5044382C>T	CA383462151	KCNA5	c.235C>T (p.Pro79Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5044383C>A	CA383462154	KCNA5	c.236C>A (p.Pro79His)	gnomAD v4
12	g.5044383C=	CA2013430651	KCNA5	c.236C= (p.Pro79=)
12	g.5044383C>G	CA383462155	KCNA5	c.236C>G (p.Pro79Arg)
12	g.5044383C>T	CA383462156	KCNA5	c.236C>T (p.Pro79Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044384T>A	CA478095034	KCNA5	c.237T>A (p.Pro79=)
12	g.5044384T>C	CA478095032	KCNA5	c.237T>C (p.Pro79=)	gnomAD v4
12	g.5044384T>G	CA6399574	KCNA5	c.237T>G (p.Pro79=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044384T=	CA2013430652	KCNA5	c.237T= (p.Pro79=)
12	g.5044385C>A	CA383462157	KCNA5	c.238C>A (p.Pro80Thr)
12	g.5044385C>G	CA383462158	KCNA5	c.238C>G (p.Pro80Ala)
12	g.5044385C>T	CA383462159	KCNA5	c.238C>T (p.Pro80Ser)
12	g.5044386C>A	CA383462160	KCNA5	c.239C>A (p.Pro80Gln)
12	g.5044386C=	CA2013430653	KCNA5	c.239C= (p.Pro80=)
12	g.5044386C>G	CA383462161	KCNA5	c.239C>G (p.Pro80Arg)	dbSNP
12	g.5044386C>T	CA383462162	KCNA5	c.239C>T (p.Pro80Leu)	gnomAD v4
12	g.5044387G>A	CA231867015	KCNA5	c.240G>A (p.Pro80=)	dbSNP
12	g.5044387G>C	CA478095035	KCNA5	c.240G>C (p.Pro80=)
12	g.5044387G=	CA2013430654	KCNA5	c.240G= (p.Pro80=)
12	g.5044387G>T	CA478095036	KCNA5	c.240G>T (p.Pro80=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044388C>A	CA383462163	KCNA5	c.241C>A (p.Leu81Met)	gnomAD v4
12	g.5044388C>G	CA383462164	KCNA5	c.241C>G (p.Leu81Val)
12	g.5044388C>T	CA478095037	KCNA5	c.241C>T (p.Leu81=)
12	g.5044389T>A	CA383462167	KCNA5	c.242T>A (p.Leu81Gln)
12	g.5044389T>C	CA383462166	KCNA5	c.242T>C (p.Leu81Pro)	gnomAD v4
12	g.5044389T>G	CA383462165	KCNA5	c.242T>G (p.Leu81Arg)	gnomAD v4
12	g.5044390G>A	CA478095038	KCNA5	c.243G>A (p.Leu81=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044390G>C	CA478095039	KCNA5	c.243G>C (p.Leu81=)
12	g.5044390G=	CA2013430655	KCNA5	c.243G= (p.Leu81=)
12	g.5044390G>T	CA478095040	KCNA5	c.243G>T (p.Leu81=)	ClinVar gnomAD v4
12	g.5044391C>A	CA6399575	KCNA5	c.244C>A (p.Pro82Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044391C=	CA2013430656	KCNA5	c.244C= (p.Pro82=)
12	g.5044391C>G	CA383462168	KCNA5	c.244C>G (p.Pro82Ala)
12	g.5044391C>T	CA6399576	KCNA5	c.244C>T (p.Pro82Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044392C>A	CA383462169	KCNA5	c.245C>A (p.Pro82Gln)	gnomAD v4
12	g.5044392C>G	CA383462170	KCNA5	c.245C>G (p.Pro82Arg)
12	g.5044392C>T	CA383462171	KCNA5	c.245C>T (p.Pro82Leu)
12	g.5044392_5044395delinsCAGA	CA2013430657	KCNA5	c.245_248delinsCAGA (p.Pro82=)
12	g.5044393A>C	CA478095041	KCNA5	c.246A>C (p.Pro82=)
12	g.5044393A>G	CA478095042	KCNA5	c.246A>G (p.Pro82=)	gnomAD v4
12	g.5044393A>T	CA478095043	KCNA5	c.246A>T (p.Pro82=)
12	g.5044393_5044395del	CA6399577	KCNA5	c.246_248del (p.Glu83del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044394G>A	CA383462172	KCNA5	c.247G>A (p.Glu83Lys)	dbSNP
12	g.5044394G>C	CA383462173	KCNA5	c.247G>C (p.Glu83Gln)
12	g.5044394G>T	CA383462174	KCNA5	c.247G>T (p.Glu83Ter)

Number of alleles fetched