Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044231G>A	CA478094823	KCNA5	c.84G>A (p.Gln28=)	gnomAD v4
12	g.5044231G>C	CA383461864	KCNA5	c.84G>C (p.Gln28His)
12	g.5044231G>T	CA383461865	KCNA5	c.84G>T (p.Gln28His)	gnomAD v4
12	g.5044232G>A	CA383461866	KCNA5	c.85G>A (p.Ala29Thr)	gnomAD v4
12	g.5044232G>C	CA383461867	KCNA5	c.85G>C (p.Ala29Pro)
12	g.5044232G>T	CA383461868	KCNA5	c.85G>T (p.Ala29Ser)	gnomAD v4
12	g.5044233C>A	CA6399537	KCNA5	c.86C>A (p.Ala29Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044233C=	CA2013430545	KCNA5	c.86C= (p.Ala29=)
12	g.5044233C>G	CA383461869	KCNA5	c.86C>G (p.Ala29Gly)
12	g.5044233C>T	CA383461870	KCNA5	c.86C>T (p.Ala29Val)	gnomAD v4
12	g.5044234C>A	CA478094825	KCNA5	c.87C>A (p.Ala29=)	gnomAD v4
12	g.5044234C=	CA2013430546	KCNA5	c.87C= (p.Ala29=)
12	g.5044234C>G	CA478094826	KCNA5	c.87C>G (p.Ala29=)
12	g.5044234C>T	CA478094827	KCNA5	c.87C>T (p.Ala29=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044235A>C	CA383461872	KCNA5	c.88A>C (p.Thr30Pro)	gnomAD v4
12	g.5044235A>G	CA383461873	KCNA5	c.88A>G (p.Thr30Ala)	gnomAD v4
12	g.5044235A>T	CA383461871	KCNA5	c.88A>T (p.Thr30Ser)	gnomAD v4
12	g.5044236C>A	CA383461874	KCNA5	c.89C>A (p.Thr30Lys)	gnomAD v4
12	g.5044236C>G	CA383461876	KCNA5	c.89C>G (p.Thr30Arg)	gnomAD v4
12	g.5044236C>T	CA383461875	KCNA5	c.89C>T (p.Thr30Ile)	gnomAD v4
12	g.5044237A=	CA2013430547	KCNA5	c.90A= (p.Thr30=)
12	g.5044237A>C	CA478094829	KCNA5	c.90A>C (p.Thr30=)
12	g.5044237A>G	CA478094831	KCNA5	c.90A>G (p.Thr30=)	gnomAD v4
12	g.5044237A>T	CA478094830	KCNA5	c.90A>T (p.Thr30=)	gnomAD v4
12	g.5044238G>A	CA383461877	KCNA5	c.91G>A (p.Gly31Arg)	gnomAD v4 COSMIC
12	g.5044238G>C	CA383461878	KCNA5	c.91G>C (p.Gly31Arg)	ClinVar dbSNP
12	g.5044238G=	CA2013430548	KCNA5	c.91G= (p.Gly31=)
12	g.5044238G>T	CA383461879	KCNA5	c.91G>T (p.Gly31Trp)	gnomAD v4
12	g.5044242dup	CA915947829	KCNA5	c.95dup (p.Glu33ArgfsTer?)	ClinVar dbSNP
12	g.5044242del	CA2575052156	KCNA5	c.95del (p.Gly32GlufsTer?)	gnomAD v4
12	g.5044239G>A	CA383461880	KCNA5	c.92G>A (p.Gly31Glu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044239G>C	CA6399539	KCNA5	c.92G>C (p.Gly31Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044239G=	CA2013430549	KCNA5	c.92G= (p.Gly31=)
12	g.5044239G>T	CA6399538	KCNA5	c.92G>T (p.Gly31Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044240G>A	CA478094833	KCNA5	c.93G>A (p.Gly31=)
12	g.5044240G>C	CA478094834	KCNA5	c.93G>C (p.Gly31=)	gnomAD v4
12	g.5044240G>T	CA478094836	KCNA5	c.93G>T (p.Gly31=)	gnomAD v4
12	g.5044241G>A	CA383461883	KCNA5	c.94G>A (p.Gly32Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5044241G>C	CA383461882	KCNA5	c.94G>C (p.Gly32Arg)
12	g.5044241G=	CA2013430550	KCNA5	c.94G= (p.Gly32=)
12	g.5044241G>T	CA383461881	KCNA5	c.94G>T (p.Gly32Ter)	gnomAD v4
12	g.5044242G>A	CA383461884	KCNA5	c.95G>A (p.Gly32Glu)	ClinVar dbSNP gnomAD v4
12	g.5044242G>C	CA383461885	KCNA5	c.95G>C (p.Gly32Ala)
12	g.5044242G=	CA2013430551	KCNA5	c.95G= (p.Gly32=)
12	g.5044242G>T	CA383461886	KCNA5	c.95G>T (p.Gly32Val)	dbSNP gnomAD v4
12	g.5044243A=	CA2013430552	KCNA5	c.96A= (p.Gly32=)
12	g.5044243A>C	CA478094838	KCNA5	c.96A>C (p.Gly32=)
12	g.5044243A>G	CA478094840	KCNA5	c.96A>G (p.Gly32=)	dbSNP gnomAD v4
12	g.5044243A>T	CA478094839	KCNA5	c.96A>T (p.Gly32=)
12	g.5044244G>A	CA383461887	KCNA5	c.97G>A (p.Glu33Lys)	gnomAD v4
12	g.5044244G>C	CA231866781	KCNA5	c.97G>C (p.Glu33Gln)	ClinVar dbSNP gnomAD v4
12	g.5044244G=	CA2013430553	KCNA5	c.97G= (p.Glu33=)
12	g.5044244G>T	CA383461888	KCNA5	c.97G>T (p.Glu33Ter)	gnomAD v4
12	g.5044245A=	CA2013430554	KCNA5	c.98A= (p.Glu33=)
12	g.5044245A>C	CA383461889	KCNA5	c.98A>C (p.Glu33Ala)	gnomAD v4
12	g.5044245A>G	CA383461890	KCNA5	c.98A>G (p.Glu33Gly)	gnomAD v4
12	g.5044245A>T	CA6399540	KCNA5	c.98A>T (p.Glu33Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044246G>A	CA478094844	KCNA5	c.99G>A (p.Glu33=)	gnomAD v4
12	g.5044246G>C	CA383461891	KCNA5	c.99G>C (p.Glu33Asp)
12	g.5044246G>T	CA383461892	KCNA5	c.99G>T (p.Glu33Asp)	gnomAD v4
12	g.5044247C>A	CA383461893	KCNA5	c.100C>A (p.Leu34Ile)	gnomAD v4
12	g.5044247C>G	CA383461894	KCNA5	c.100C>G (p.Leu34Val)
12	g.5044247C>T	CA383461895	KCNA5	c.100C>T (p.Leu34Phe)	gnomAD v4
12	g.5044248T>A	CA383461896	KCNA5	c.101T>A (p.Leu34His)	gnomAD v4
12	g.5044248T>C	CA383461897	KCNA5	c.101T>C (p.Leu34Pro)	gnomAD v4
12	g.5044248T>G	CA383461898	KCNA5	c.101T>G (p.Leu34Arg)	gnomAD v4
12	g.5044249C>A	CA478094846	KCNA5	c.102C>A (p.Leu34=)
12	g.5044249C>G	CA478094850	KCNA5	c.102C>G (p.Leu34=)
12	g.5044249C>T	CA478094848	KCNA5	c.102C>T (p.Leu34=)	gnomAD v4
12	g.5044250C>A	CA383461899	KCNA5	c.103C>A (p.Gln35Lys)	gnomAD v4
12	g.5044250C>G	CA383461900	KCNA5	c.103C>G (p.Gln35Glu)
12	g.5044250C>T	CA383461901	KCNA5	c.103C>T (p.Gln35Ter)	gnomAD v4
12	g.5044251A>C	CA383461902	KCNA5	c.104A>C (p.Gln35Pro)
12	g.5044251A>G	CA383461904	KCNA5	c.104A>G (p.Gln35Arg)	gnomAD v4
12	g.5044251A>T	CA383461903	KCNA5	c.104A>T (p.Gln35Leu)	gnomAD v4
12	g.5044252G>A	CA478094853	KCNA5	c.105G>A (p.Gln35=)
12	g.5044252G>C	CA383461905	KCNA5	c.105G>C (p.Gln35His)
12	g.5044252G>T	CA383461906	KCNA5	c.105G>T (p.Gln35His)	gnomAD v4
12	g.5044253T>A	CA231866787	KCNA5	c.106T>A (p.Cys36Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044253T>C	CA383461907	KCNA5	c.106T>C (p.Cys36Arg)	dbSNP gnomAD v4
12	g.5044253T>G	CA383461908	KCNA5	c.106T>G (p.Cys36Gly)	gnomAD v4
12	g.5044253T=	CA2013430555	KCNA5	c.106T= (p.Cys36=)
12	g.5044254G>A	CA383461909	KCNA5	c.107G>A (p.Cys36Tyr)	gnomAD v4
12	g.5044254G>C	CA383461910	KCNA5	c.107G>C (p.Cys36Ser)
12	g.5044254G>T	CA383461911	KCNA5	c.107G>T (p.Cys36Phe)	gnomAD v4
12	g.5044255T>A	CA383461912	KCNA5	c.108T>A (p.Cys36Ter)
12	g.5044255T>C	CA478094859	KCNA5	c.108T>C (p.Cys36=)	gnomAD v4
12	g.5044255T>G	CA383461913	KCNA5	c.108T>G (p.Cys36Trp)
12	g.5044256C>A	CA383461914	KCNA5	c.109C>A (p.Pro37Thr)	gnomAD v4
12	g.5044256C=	CA2013430556	KCNA5	c.109C= (p.Pro37=)
12	g.5044256C>G	CA383461915	KCNA5	c.109C>G (p.Pro37Ala)	gnomAD v4
12	g.5044256C>T	CA6399541	KCNA5	c.109C>T (p.Pro37Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044260del	CA2617209882	KCNA5	c.113del (p.Pro38ArgfsTer?)	gnomAD v4
12	g.5044257C>A	CA383461916	KCNA5	c.110C>A (p.Pro37His)	gnomAD v4
12	g.5044257C=	CA2013430557	KCNA5	c.110C= (p.Pro37=)
12	g.5044257C>G	CA383461917	KCNA5	c.110C>G (p.Pro37Arg)	dbSNP gnomAD v4
12	g.5044257C>T	CA231866796	KCNA5	c.110C>T (p.Pro37Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5044258C>A	CA6399542	KCNA5	c.111C>A (p.Pro37=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044258C=	CA2013430558	KCNA5	c.111C= (p.Pro37=)
12	g.5044258C>G	CA478094865	KCNA5	c.111C>G (p.Pro37=)
12	g.5044258C>T	CA478094866	KCNA5	c.111C>T (p.Pro37=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044259C>A	CA383461918	KCNA5	c.112C>A (p.Pro38Thr)	gnomAD v4
12	g.5044259C=	CA2013430559	KCNA5	c.112C= (p.Pro38=)
12	g.5044259C>G	CA383461919	KCNA5	c.112C>G (p.Pro38Ala)	gnomAD v4
12	g.5044259C>T	CA231866803	KCNA5	c.112C>T (p.Pro38Ser)	dbSNP
12	g.5044260C>A	CA383461920	KCNA5	c.113C>A (p.Pro38Gln)	gnomAD v4
12	g.5044260C=	CA2013430560	KCNA5	c.113C= (p.Pro38=)
12	g.5044260C>G	CA383461921	KCNA5	c.113C>G (p.Pro38Arg)
12	g.5044260C>T	CA383461922	KCNA5	c.113C>T (p.Pro38Leu)	dbSNP gnomAD v4
12	g.5044261del	CA2617209883	KCNA5	c.114del (p.Thr39ArgfsTer?)	gnomAD v4
12	g.5044261G>A	CA478094870	KCNA5	c.114G>A (p.Pro38=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044261G>C	CA478094871	KCNA5	c.114G>C (p.Pro38=)
12	g.5044261G=	CA2013430561	KCNA5	c.114G= (p.Pro38=)
12	g.5044261G>T	CA478094873	KCNA5	c.114G>T (p.Pro38=)	gnomAD v4
12	g.5044262A=	CA2013430562	KCNA5	c.115A= (p.Thr39=)
12	g.5044262A>C	CA383461923	KCNA5	c.115A>C (p.Thr39Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5044262A>G	CA383461924	KCNA5	c.115A>G (p.Thr39Ala)
12	g.5044262A>T	CA383461925	KCNA5	c.115A>T (p.Thr39Ser)
12	g.5044263C>A	CA383461928	KCNA5	c.116C>A (p.Thr39Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044263C=	CA2013430563	KCNA5	c.116C= (p.Thr39=)
12	g.5044263C>G	CA383461927	KCNA5	c.116C>G (p.Thr39Arg)
12	g.5044263C>T	CA383461926	KCNA5	c.116C>T (p.Thr39Met)	gnomAD v4
12	g.5044264G>A	CA478094874	KCNA5	c.117G>A (p.Thr39=)	gnomAD v4
12	g.5044264G>C	CA478094879	KCNA5	c.117G>C (p.Thr39=)	dbSNP gnomAD v4
12	g.5044264G=	CA2013430564	KCNA5	c.117G= (p.Thr39=)
12	g.5044264G>T	CA478094877	KCNA5	c.117G>T (p.Thr39=)	gnomAD v4
12	g.5044265G>A	CA231866808	KCNA5	c.118G>A (p.Ala40Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5044265G>C	CA383461929	KCNA5	c.118G>C (p.Ala40Pro)	gnomAD v4
12	g.5044265G=	CA2013430565	KCNA5	c.118G= (p.Ala40=)
12	g.5044265G>T	CA383461930	KCNA5	c.118G>T (p.Ala40Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5044266C>A	CA383461931	KCNA5	c.119C>A (p.Ala40Asp)	gnomAD v4
12	g.5044266C>G	CA383461932	KCNA5	c.119C>G (p.Ala40Gly)	gnomAD v4
12	g.5044266C>T	CA383461933	KCNA5	c.119C>T (p.Ala40Val)	gnomAD v4
12	g.5044267T>A	CA478094882	KCNA5	c.120T>A (p.Ala40=)
12	g.5044267T>C	CA478094886	KCNA5	c.120T>C (p.Ala40=)	gnomAD v4
12	g.5044267T>G	CA478094884	KCNA5	c.120T>G (p.Ala40=)
12	g.5044268G>A	CA383461934	KCNA5	c.121G>A (p.Gly41Arg)	gnomAD v4
12	g.5044268G>C	CA383461935	KCNA5	c.121G>C (p.Gly41Arg)
12	g.5044268G>T	CA383461936	KCNA5	c.121G>T (p.Gly41Trp)	gnomAD v4
12	g.5044270del	CA2617209884	KCNA5	c.123del (p.Leu42SerfsTer?)	gnomAD v4
12	g.5044269G>A	CA6399543	KCNA5	c.122G>A (p.Gly41Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044269G>C	CA383461937	KCNA5	c.122G>C (p.Gly41Ala)	dbSNP
12	g.5044269G=	CA2013430566	KCNA5	c.122G= (p.Gly41=)
12	g.5044269G>T	CA383461938	KCNA5	c.122G>T (p.Gly41Val)	gnomAD v4
12	g.5044270G>A	CA478094891	KCNA5	c.123G>A (p.Gly41=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044270G>C	CA6399544	KCNA5	c.123G>C (p.Gly41=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044270G=	CA2013430567	KCNA5	c.123G= (p.Gly41=)
12	g.5044270G>T	CA478094889	KCNA5	c.123G>T (p.Gly41=)	gnomAD v4
12	g.5044271C>A	CA383461941	KCNA5	c.124C>A (p.Leu42Ile)	gnomAD v4
12	g.5044271C>G	CA383461940	KCNA5	c.124C>G (p.Leu42Val)
12	g.5044271C>T	CA383461939	KCNA5	c.124C>T (p.Leu42Phe)
12	g.5044272T>A	CA383461942	KCNA5	c.125T>A (p.Leu42His)
12	g.5044272T>C	CA383461943	KCNA5	c.125T>C (p.Leu42Pro)
12	g.5044272T>G	CA383461944	KCNA5	c.125T>G (p.Leu42Arg)
12	g.5044273C>A	CA478094894	KCNA5	c.126C>A (p.Leu42=)	gnomAD v4
12	g.5044273C>G	CA478094896	KCNA5	c.126C>G (p.Leu42=)
12	g.5044273C>T	CA478094895	KCNA5	c.126C>T (p.Leu42=)	gnomAD v4
12	g.5044274A=	CA2013430568	KCNA5	c.127A= (p.Ser43=)
12	g.5044274A>C	CA383461945	KCNA5	c.127A>C (p.Ser43Arg)
12	g.5044274A>G	CA383461946	KCNA5	c.127A>G (p.Ser43Gly)	gnomAD v4
12	g.5044274A>T	CA383461947	KCNA5	c.127A>T (p.Ser43Cys)	dbSNP gnomAD v2 gnomAD v4
12	g.5044275G>A	CA383461948	KCNA5	c.128G>A (p.Ser43Asn)
12	g.5044275G>C	CA383461949	KCNA5	c.128G>C (p.Ser43Thr)
12	g.5044275G>T	CA383461950	KCNA5	c.128G>T (p.Ser43Ile)	gnomAD v4
12	g.5044276C>A	CA383461951	KCNA5	c.129C>A (p.Ser43Arg)	dbSNP gnomAD v4
12	g.5044276C=	CA2013430569	KCNA5	c.129C= (p.Ser43=)
12	g.5044276C>G	CA383461952	KCNA5	c.129C>G (p.Ser43Arg)
12	g.5044276C>T	CA478094900	KCNA5	c.129C>T (p.Ser43=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044277G>A	CA231866822	KCNA5	c.130G>A (p.Asp44Asn)	dbSNP gnomAD v4
12	g.5044277G>C	CA383461953	KCNA5	c.130G>C (p.Asp44His)
12	g.5044277G=	CA2013430570	KCNA5	c.130G= (p.Asp44=)
12	g.5044277G>T	CA383461954	KCNA5	c.130G>T (p.Asp44Tyr)	gnomAD v4
12	g.5044278A>C	CA383461956	KCNA5	c.131A>C (p.Asp44Ala)
12	g.5044278A>G	CA383461957	KCNA5	c.131A>G (p.Asp44Gly)
12	g.5044278A>T	CA383461955	KCNA5	c.131A>T (p.Asp44Val)	gnomAD v4
12	g.5044279T>A	CA383461958	KCNA5	c.132T>A (p.Asp44Glu)
12	g.5044279T>C	CA478094903	KCNA5	c.132T>C (p.Asp44=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044279T>G	CA383461959	KCNA5	c.132T>G (p.Asp44Glu)
12	g.5044279T=	CA2013430571	KCNA5	c.132T= (p.Asp44=)
12	g.5044280G>A	CA383461960	KCNA5	c.133G>A (p.Gly45Arg)	gnomAD v4
12	g.5044280G>C	CA383461961	KCNA5	c.133G>C (p.Gly45Arg)
12	g.5044280G>T	CA383461962	KCNA5	c.133G>T (p.Gly45Trp)	gnomAD v4
12	g.5044281G>A	CA383461963	KCNA5	c.134G>A (p.Gly45Glu)	gnomAD v4
12	g.5044281G>C	CA383461964	KCNA5	c.134G>C (p.Gly45Ala)
12	g.5044281G>T	CA383461965	KCNA5	c.134G>T (p.Gly45Val)	gnomAD v4
12	g.5044282G>A	CA6399545	KCNA5	c.135G>A (p.Gly45=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044282G>C	CA478094905	KCNA5	c.135G>C (p.Gly45=)
12	g.5044282G=	CA2013430572	KCNA5	c.135G= (p.Gly45=)
12	g.5044282G>T	CA478094907	KCNA5	c.135G>T (p.Gly45=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044283C>A	CA383461966	KCNA5	c.136C>A (p.Pro46Thr)	gnomAD v4
12	g.5044283C=	CA2013430573	KCNA5	c.136C= (p.Pro46=)
12	g.5044283C>G	CA383461967	KCNA5	c.136C>G (p.Pro46Ala)
12	g.5044283C>T	CA383461968	KCNA5	c.136C>T (p.Pro46Ser)	dbSNP gnomAD v4
12	g.5044284C>A	CA383461971	KCNA5	c.137C>A (p.Pro46His)	gnomAD v4
12	g.5044284C>G	CA383461969	KCNA5	c.137C>G (p.Pro46Arg)
12	g.5044284C>T	CA383461970	KCNA5	c.137C>T (p.Pro46Leu)	gnomAD v4
12	g.5044285C>A	CA478094911	KCNA5	c.138C>A (p.Pro46=)	gnomAD v4
12	g.5044285C=	CA2013430574	KCNA5	c.138C= (p.Pro46=)
12	g.5044285C>G	CA478094909	KCNA5	c.138C>G (p.Pro46=)	gnomAD v4
12	g.5044285C>T	CA478094910	KCNA5	c.138C>T (p.Pro46=)	dbSNP gnomAD v4
12	g.5044286A>C	CA383461972	KCNA5	c.139A>C (p.Lys47Gln)
12	g.5044286A>G	CA383461973	KCNA5	c.139A>G (p.Lys47Glu)	gnomAD v4
12	g.5044286A>T	CA383461974	KCNA5	c.139A>T (p.Lys47Ter)
12	g.5044287A=	CA2013430575	KCNA5	c.140A= (p.Lys47=)
12	g.5044287A>C	CA383461975	KCNA5	c.140A>C (p.Lys47Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5044287A>G	CA10633067	KCNA5	c.140A>G (p.Lys47Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044287A>T	CA383461976	KCNA5	c.140A>T (p.Lys47Met)
12	g.5044288G>A	CA478094912	KCNA5	c.141G>A (p.Lys47=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044288G>C	CA383461977	KCNA5	c.141G>C (p.Lys47Asn)	gnomAD v4
12	g.5044288G=	CA2013430576	KCNA5	c.141G= (p.Lys47=)
12	g.5044288G>T	CA383461978	KCNA5	c.141G>T (p.Lys47Asn)	gnomAD v4
12	g.5044289dup	CA2617209885	KCNA5	c.142dup (p.Glu48GlyfsTer?)	gnomAD v4
12	g.5044289G>A	CA383461979	KCNA5	c.142G>A (p.Glu48Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044289G>C	CA383461980	KCNA5	c.142G>C (p.Glu48Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044289G=	CA2013430577	KCNA5	c.142G= (p.Glu48=)
12	g.5044289G>T	CA383461981	KCNA5	c.142G>T (p.Glu48Ter)	gnomAD v4
12	g.5044290A=	CA2013430578	KCNA5	c.143A= (p.Glu48=)
12	g.5044290A>C	CA383461982	KCNA5	c.143A>C (p.Glu48Ala)
12	g.5044290A>G	CA151380	KCNA5	c.143A>G (p.Glu48Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044290A>T	CA383461983	KCNA5	c.143A>T (p.Glu48Val)
12	g.5044291G>A	CA478094916	KCNA5	c.144G>A (p.Glu48=)	gnomAD v4
12	g.5044291G>C	CA6399546	KCNA5	c.144G>C (p.Glu48Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044291G=	CA2013430579	KCNA5	c.144G= (p.Glu48=)
12	g.5044291G>T	CA383461984	KCNA5	c.144G>T (p.Glu48Asp)	gnomAD v4
12	g.5044292C>A	CA383461985	KCNA5	c.145C>A (p.Pro49Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5044292C=	CA2013430580	KCNA5	c.145C= (p.Pro49=)
12	g.5044292C>G	CA383461987	KCNA5	c.145C>G (p.Pro49Ala)
12	g.5044292C>T	CA383461986	KCNA5	c.145C>T (p.Pro49Ser)	dbSNP gnomAD v4
12	g.5044293C>A	CA383461988	KCNA5	c.146C>A (p.Pro49Gln)	gnomAD v4
12	g.5044293C=	CA2013430581	KCNA5	c.146C= (p.Pro49=)
12	g.5044293C>G	CA383461990	KCNA5	c.146C>G (p.Pro49Arg)	dbSNP
12	g.5044293C>T	CA383461989	KCNA5	c.146C>T (p.Pro49Leu)	gnomAD v4
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)	ClinVar 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=)

Number of alleles fetched