Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045161_5045181delinsGCTGCTCGTGCGCTTCTTCGC	CA2013431102	KCNA5	c.1014_1034delinsGCTGCTCGTGCGCTTCTTCGC (p.Glu338=)
12	g.5045166_5045185del	CA2013431103	KCNA5	c.1019_1038del (p.Leu340ProfsTer?)	dbSNP gnomAD v4
12	g.5045178T>A	CA383465628	KCNA5	c.1031T>A (p.Phe344Tyr)
12	g.5045178T>C	CA383465629	KCNA5	c.1031T>C (p.Phe344Ser)	gnomAD v4
12	g.5045178T>G	CA383465630	KCNA5	c.1031T>G (p.Phe344Cys)
12	g.5045179C>A	CA383465631	KCNA5	c.1032C>A (p.Phe344Leu)
12	g.5045179C=	CA2013431112	KCNA5	c.1032C= (p.Phe344=)
12	g.5045179C>G	CA383465632	KCNA5	c.1032C>G (p.Phe344Leu)
12	g.5045179C>T	CA6399790	KCNA5	c.1032C>T (p.Phe344=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045180G>A	CA383465633	KCNA5	c.1033G>A (p.Ala345Thr)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045180G>C	CA383465634	KCNA5	c.1033G>C (p.Ala345Pro)
12	g.5045180G=	CA2013431113	KCNA5	c.1033G= (p.Ala345=)
12	g.5045180G>T	CA383465635	KCNA5	c.1033G>T (p.Ala345Ser)
12	g.5045181C>A	CA383465636	KCNA5	c.1034C>A (p.Ala345Asp)
12	g.5045181C>G	CA383465637	KCNA5	c.1034C>G (p.Ala345Gly)
12	g.5045181C>T	CA383465638	KCNA5	c.1034C>T (p.Ala345Val)
12	g.5045182C>A	CA478095585	KCNA5	c.1035C>A (p.Ala345=)
12	g.5045182C>G	CA478095586	KCNA5	c.1035C>G (p.Ala345=)
12	g.5045182C>T	CA478095587	KCNA5	c.1035C>T (p.Ala345=)
12	g.5045183T>A	CA383465639	KCNA5	c.1036T>A (p.Cys346Ser)
12	g.5045183T>C	CA383465640	KCNA5	c.1036T>C (p.Cys346Arg)	dbSNP gnomAD v4
12	g.5045183T>G	CA383465641	KCNA5	c.1036T>G (p.Cys346Gly)
12	g.5045184G>A	CA383465642	KCNA5	c.1037G>A (p.Cys346Tyr)
12	g.5045184G>C	CA383465643	KCNA5	c.1037G>C (p.Cys346Ser)
12	g.5045184G>T	CA383465644	KCNA5	c.1037G>T (p.Cys346Phe)
12	g.5045185C>A	CA6399791	KCNA5	c.1038C>A (p.Cys346Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045185C=	CA2013431114	KCNA5	c.1038C= (p.Cys346=)
12	g.5045185C>G	CA383465645	KCNA5	c.1038C>G (p.Cys346Trp)	dbSNP
12	g.5045185C>T	CA478095588	KCNA5	c.1038C>T (p.Cys346=)	gnomAD v4
12	g.5045188del	CA2617209913	KCNA5	c.1041del (p.Ser348AlafsTer10)	gnomAD v4
12	g.5045186C>A	CA383465646	KCNA5	c.1039C>A (p.Pro347Thr)
12	g.5045186C=	CA2013431115	KCNA5	c.1039C= (p.Pro347=)
12	g.5045186C>G	CA383465647	KCNA5	c.1039C>G (p.Pro347Ala)
12	g.5045186C>T	CA6399792	KCNA5	c.1039C>T (p.Pro347Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045187C>A	CA383465648	KCNA5	c.1040C>A (p.Pro347His)
12	g.5045187C>G	CA383465649	KCNA5	c.1040C>G (p.Pro347Arg)
12	g.5045187C>T	CA383465650	KCNA5	c.1040C>T (p.Pro347Leu)
12	g.5045188C>A	CA478095591	KCNA5	c.1041C>A (p.Pro347=)
12	g.5045188C=	CA2013431116	KCNA5	c.1041C= (p.Pro347=)
12	g.5045188C>G	CA478095593	KCNA5	c.1041C>G (p.Pro347=)
12	g.5045188C>T	CA478095595	KCNA5	c.1041C>T (p.Pro347=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045189A>C	CA383465651	KCNA5	c.1042A>C (p.Ser348Arg)
12	g.5045189A>G	CA383465652	KCNA5	c.1042A>G (p.Ser348Gly)	gnomAD v4
12	g.5045189A>T	CA383465653	KCNA5	c.1042A>T (p.Ser348Cys)
12	g.5045190G>A	CA6399793	KCNA5	c.1043G>A (p.Ser348Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045190G>C	CA383465654	KCNA5	c.1043G>C (p.Ser348Thr)
12	g.5045190G=	CA2013431117	KCNA5	c.1043G= (p.Ser348=)
12	g.5045190G>T	CA383465655	KCNA5	c.1043G>T (p.Ser348Ile)
12	g.5045191C>A	CA383465656	KCNA5	c.1044C>A (p.Ser348Arg)	gnomAD v4
12	g.5045191C=	CA2013431118	KCNA5	c.1044C= (p.Ser348=)
12	g.5045191C>G	CA383465657	KCNA5	c.1044C>G (p.Ser348Arg)
12	g.5045191C>T	CA231868393	KCNA5	c.1044C>T (p.Ser348=)	dbSNP
12	g.5045192A=	CA2013431119	KCNA5	c.1045A= (p.Lys349=)
12	g.5045192A>C	CA383465660	KCNA5	c.1045A>C (p.Lys349Gln)
12	g.5045192A>G	CA383465659	KCNA5	c.1045A>G (p.Lys349Glu)	ClinVar dbSNP gnomAD v4
12	g.5045192A>T	CA383465658	KCNA5	c.1045A>T (p.Lys349Ter)
12	g.5045193A=	CA2013431120	KCNA5	c.1046A= (p.Lys349=)
12	g.5045193A>C	CA383465661	KCNA5	c.1046A>C (p.Lys349Thr)
12	g.5045193A>G	CA383465662	KCNA5	c.1046A>G (p.Lys349Arg)	dbSNP gnomAD v2
12	g.5045193A>T	CA383465663	KCNA5	c.1046A>T (p.Lys349Met)
12	g.5045194G>A	CA478095601	KCNA5	c.1047G>A (p.Lys349=)
12	g.5045194G>C	CA383465664	KCNA5	c.1047G>C (p.Lys349Asn)
12	g.5045194G>T	CA383465665	KCNA5	c.1047G>T (p.Lys349Asn)
12	g.5045195G>A	CA383465666	KCNA5	c.1048G>A (p.Ala350Thr)
12	g.5045195G>C	CA383465667	KCNA5	c.1048G>C (p.Ala350Pro)
12	g.5045195G>T	CA383465668	KCNA5	c.1048G>T (p.Ala350Ser)
12	g.5045196C>A	CA383465669	KCNA5	c.1049C>A (p.Ala350Glu)
12	g.5045196C=	CA2013431121	KCNA5	c.1049C= (p.Ala350=)
12	g.5045196C>G	CA383465670	KCNA5	c.1049C>G (p.Ala350Gly)
12	g.5045196C>T	CA383465671	KCNA5	c.1049C>T (p.Ala350Val)	dbSNP gnomAD v3 gnomAD v4
12	g.5045197A=	CA2013431122	KCNA5	c.1050A= (p.Ala350=)
12	g.5045197A>C	CA478095606	KCNA5	c.1050A>C (p.Ala350=)
12	g.5045197A>G	CA478095609	KCNA5	c.1050A>G (p.Ala350=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045197A>T	CA478095608	KCNA5	c.1050A>T (p.Ala350=)
12	g.5045198G>A	CA383465672	KCNA5	c.1051G>A (p.Gly351Arg)
12	g.5045198G>C	CA383465673	KCNA5	c.1051G>C (p.Gly351Arg)
12	g.5045198G>T	CA383465674	KCNA5	c.1051G>T (p.Gly351Trp)
12	g.5045200del	CA2573148460	KCNA5	c.1053del (p.Phe352SerfsTer6)	ClinVar dbSNP
12	g.5045199G>A	CA383465676	KCNA5	c.1052G>A (p.Gly351Glu)	gnomAD v4
12	g.5045199G>C	CA6399794	KCNA5	c.1052G>C (p.Gly351Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045199G=	CA2013431123	KCNA5	c.1052G= (p.Gly351=)
12	g.5045199G>T	CA383465675	KCNA5	c.1052G>T (p.Gly351Val)
12	g.5045200G>A	CA478095613	KCNA5	c.1053G>A (p.Gly351=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045200G>C	CA478095614	KCNA5	c.1053G>C (p.Gly351=)
12	g.5045200G=	CA2013431124	KCNA5	c.1053G= (p.Gly351=)
12	g.5045200G>T	CA478095615	KCNA5	c.1053G>T (p.Gly351=)	gnomAD v4
12	g.5045201T>A	CA383465677	KCNA5	c.1054T>A (p.Phe352Ile)
12	g.5045201T>C	CA383465678	KCNA5	c.1054T>C (p.Phe352Leu)	dbSNP gnomAD v4
12	g.5045201T>G	CA383465679	KCNA5	c.1054T>G (p.Phe352Val)	dbSNP
12	g.5045201T=	CA2013431125	KCNA5	c.1054T= (p.Phe352=)
12	g.5045202T>A	CA383465680	KCNA5	c.1055T>A (p.Phe352Tyr)
12	g.5045202T>C	CA383465681	KCNA5	c.1055T>C (p.Phe352Ser)	COSMIC
12	g.5045202T>G	CA383465682	KCNA5	c.1055T>G (p.Phe352Cys)
12	g.5045203C>A	CA383465683	KCNA5	c.1056C>A (p.Phe352Leu)
12	g.5045203C>G	CA383465684	KCNA5	c.1056C>G (p.Phe352Leu)
12	g.5045203C>T	CA478095619	KCNA5	c.1056C>T (p.Phe352=)
12	g.5045204T>A	CA383465685	KCNA5	c.1057T>A (p.Ser353Thr)
12	g.5045204T>C	CA383465686	KCNA5	c.1057T>C (p.Ser353Pro)
12	g.5045204T>G	CA383465687	KCNA5	c.1057T>G (p.Ser353Ala)
12	g.5045205C>A	CA383465688	KCNA5	c.1058C>A (p.Ser353Tyr)
12	g.5045205C>G	CA383465689	KCNA5	c.1058C>G (p.Ser353Cys)
12	g.5045205C>T	CA383465690	KCNA5	c.1058C>T (p.Ser353Phe)	gnomAD v4
12	g.5045206C>A	CA478095621	KCNA5	c.1059C>A (p.Ser353=)
12	g.5045206C>G	CA478095624	KCNA5	c.1059C>G (p.Ser353=)	gnomAD v4 COSMIC
12	g.5045206C>T	CA478095626	KCNA5	c.1059C>T (p.Ser353=)
12	g.5045207C>A	CA478095629	KCNA5	c.1060C>A (p.Arg354=)	ClinVar dbSNP gnomAD v4
12	g.5045207C=	CA2013431126	KCNA5	c.1060C= (p.Arg354=)
12	g.5045207C>G	CA383465691	KCNA5	c.1060C>G (p.Arg354Gly)
12	g.5045207C>T	CA6399795	KCNA5	c.1060C>T (p.Arg354Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045208G>A	CA383465692	KCNA5	c.1061G>A (p.Arg354Gln)	dbSNP gnomAD v4 COSMIC
12	g.5045208G>C	CA383465693	KCNA5	c.1061G>C (p.Arg354Pro)
12	g.5045208G=	CA2013431127	KCNA5	c.1061G= (p.Arg354=)
12	g.5045208G>T	CA383465694	KCNA5	c.1061G>T (p.Arg354Leu)
12	g.5045209G>A	CA478095632	KCNA5	c.1062G>A (p.Arg354=)
12	g.5045209G>C	CA478095633	KCNA5	c.1062G>C (p.Arg354=)
12	g.5045209G=	CA2013431128	KCNA5	c.1062G= (p.Arg354=)
12	g.5045209G>T	CA6399796	KCNA5	c.1062G>T (p.Arg354=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045218_5045226dup	CA603482592	KCNA5	c.1071_1079dup (p.Ile359_Ile360insMetAsnIle)	dbSNP gnomAD v2 gnomAD v4
12	g.5045210A>C	CA383465695	KCNA5	c.1063A>C (p.Asn355His)
12	g.5045210A>G	CA383465696	KCNA5	c.1063A>G (p.Asn355Asp)	gnomAD v4
12	g.5045210A>T	CA383465697	KCNA5	c.1063A>T (p.Asn355Tyr)
12	g.5045211A>C	CA383465698	KCNA5	c.1064A>C (p.Asn355Thr)
12	g.5045211A>G	CA383465699	KCNA5	c.1064A>G (p.Asn355Ser)
12	g.5045211A>T	CA383465700	KCNA5	c.1064A>T (p.Asn355Ile)
12	g.5045212C>A	CA383465701	KCNA5	c.1065C>A (p.Asn355Lys)	gnomAD v4
12	g.5045212C=	CA2013431129	KCNA5	c.1065C= (p.Asn355=)
12	g.5045212C>G	CA383465702	KCNA5	c.1065C>G (p.Asn355Lys)
12	g.5045212C>T	CA478095635	KCNA5	c.1065C>T (p.Asn355=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045213A>C	CA383465703	KCNA5	c.1066A>C (p.Ile356Leu)
12	g.5045213A>G	CA383465705	KCNA5	c.1066A>G (p.Ile356Val)
12	g.5045213A>T	CA383465704	KCNA5	c.1066A>T (p.Ile356Phe)
12	g.5045214T>A	CA383465706	KCNA5	c.1067T>A (p.Ile356Asn)
12	g.5045214T>C	CA383465707	KCNA5	c.1067T>C (p.Ile356Thr)
12	g.5045214T>G	CA383465708	KCNA5	c.1067T>G (p.Ile356Ser)
12	g.5045215C>A	CA478095640	KCNA5	c.1068C>A (p.Ile356=)
12	g.5045215C>G	CA383465709	KCNA5	c.1068C>G (p.Ile356Met)	gnomAD v4
12	g.5045215C>T	CA478095642	KCNA5	c.1068C>T (p.Ile356=)
12	g.5045216A=	CA2013431130	KCNA5	c.1069A= (p.Met357=)
12	g.5045216A>C	CA383465710	KCNA5	c.1069A>C (p.Met357Leu)
12	g.5045216A>G	CA231868413	KCNA5	c.1069A>G (p.Met357Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045216A>T	CA383465711	KCNA5	c.1069A>T (p.Met357Leu)
12	g.5045217T>A	CA383465713	KCNA5	c.1070T>A (p.Met357Lys)
12	g.5045217T>C	CA6399797	KCNA5	c.1070T>C (p.Met357Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045217T>G	CA383465712	KCNA5	c.1070T>G (p.Met357Arg)
12	g.5045217T=	CA2013431131	KCNA5	c.1070T= (p.Met357=)
12	g.5045218G>A	CA383465714	KCNA5	c.1071G>A (p.Met357Ile)
12	g.5045218G>C	CA383465715	KCNA5	c.1071G>C (p.Met357Ile)
12	g.5045218G>T	CA383465716	KCNA5	c.1071G>T (p.Met357Ile)
12	g.5045219A>C	CA383465717	KCNA5	c.1072A>C (p.Asn358His)
12	g.5045219A>G	CA383465718	KCNA5	c.1072A>G (p.Asn358Asp)
12	g.5045219A>T	CA383465719	KCNA5	c.1072A>T (p.Asn358Tyr)
12	g.5045220_5045222del	CA2617209914	KCNA5	c.1073_1075del (p.Asn358del)	gnomAD v4
12	g.5045220A>C	CA383465720	KCNA5	c.1073A>C (p.Asn358Thr)
12	g.5045220A>G	CA383465722	KCNA5	c.1073A>G (p.Asn358Ser)
12	g.5045220A>T	CA383465721	KCNA5	c.1073A>T (p.Asn358Ile)
12	g.5045221C>A	CA383465723	KCNA5	c.1074C>A (p.Asn358Lys)
12	g.5045221C>G	CA383465724	KCNA5	c.1074C>G (p.Asn358Lys)
12	g.5045221C>T	CA478095648	KCNA5	c.1074C>T (p.Asn358=)
12	g.5045222A=	CA2013431132	KCNA5	c.1075A= (p.Ile359=)
12	g.5045222A>C	CA383465725	KCNA5	c.1075A>C (p.Ile359Leu)
12	g.5045222A>G	CA6399798	KCNA5	c.1075A>G (p.Ile359Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045222A>T	CA383465726	KCNA5	c.1075A>T (p.Ile359Phe)
12	g.5045222_5045223del	CA2617209915	KCNA5	c.1075_1076del (p.Ile359HisfsTer?)	gnomAD v4
12	g.5045223T>A	CA383465727	KCNA5	c.1076T>A (p.Ile359Asn)
12	g.5045223T>C	CA383465728	KCNA5	c.1076T>C (p.Ile359Thr)
12	g.5045223T>G	CA383465729	KCNA5	c.1076T>G (p.Ile359Ser)
12	g.5045224C>A	CA478095649	KCNA5	c.1077C>A (p.Ile359=)
12	g.5045224C>G	CA383465730	KCNA5	c.1077C>G (p.Ile359Met)
12	g.5045224C>T	CA478095650	KCNA5	c.1077C>T (p.Ile359=)	gnomAD v4 COSMIC
12	g.5045225A>C	CA383465731	KCNA5	c.1078A>C (p.Ile360Leu)
12	g.5045225A>G	CA383465732	KCNA5	c.1078A>G (p.Ile360Val)	ClinVar gnomAD v4
12	g.5045225A>T	CA383465733	KCNA5	c.1078A>T (p.Ile360Phe)
12	g.5045226T>A	CA383465734	KCNA5	c.1079T>A (p.Ile360Asn)
12	g.5045226T>C	CA383465736	KCNA5	c.1079T>C (p.Ile360Thr)	dbSNP
12	g.5045226T>G	CA383465735	KCNA5	c.1079T>G (p.Ile360Ser)
12	g.5045226T=	CA2013431133	KCNA5	c.1079T= (p.Ile360=)
12	g.5045227C>A	CA478095652	KCNA5	c.1080C>A (p.Ile360=)
12	g.5045227C=	CA2013431134	KCNA5	c.1080C= (p.Ile360=)
12	g.5045227C>G	CA383465737	KCNA5	c.1080C>G (p.Ile360Met)
12	g.5045227C>T	CA6399799	KCNA5	c.1080C>T (p.Ile360=)	dbSNP ExAC gnomAD v4
12	g.5045228G>A	CA383465738	KCNA5	c.1081G>A (p.Asp361Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045228G>C	CA383465739	KCNA5	c.1081G>C (p.Asp361His)
12	g.5045228G=	CA2013431135	KCNA5	c.1081G= (p.Asp361=)
12	g.5045228G>T	CA383465740	KCNA5	c.1081G>T (p.Asp361Tyr)	dbSNP
12	g.5045229A>C	CA383465741	KCNA5	c.1082A>C (p.Asp361Ala)
12	g.5045229A>G	CA383465742	KCNA5	c.1082A>G (p.Asp361Gly)	gnomAD v4
12	g.5045229A>T	CA383465743	KCNA5	c.1082A>T (p.Asp361Val)
12	g.5045230T>A	CA383465744	KCNA5	c.1083T>A (p.Asp361Glu)
12	g.5045230T>C	CA478095658	KCNA5	c.1083T>C (p.Asp361=)	dbSNP gnomAD v4
12	g.5045230T>G	CA383465745	KCNA5	c.1083T>G (p.Asp361Glu)
12	g.5045230T=	CA2013431136	KCNA5	c.1083T= (p.Asp361=)
12	g.5045231G>A	CA6399800	KCNA5	c.1084G>A (p.Val362Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045231G>C	CA383465746	KCNA5	c.1084G>C (p.Val362Leu)
12	g.5045231G=	CA2013431137	KCNA5	c.1084G= (p.Val362=)
12	g.5045231G>T	CA383465747	KCNA5	c.1084G>T (p.Val362Leu)	gnomAD v4
12	g.5045232T>A	CA383465750	KCNA5	c.1085T>A (p.Val362Glu)
12	g.5045232T>C	CA383465748	KCNA5	c.1085T>C (p.Val362Ala)	gnomAD v4
12	g.5045232T>G	CA383465749	KCNA5	c.1085T>G (p.Val362Gly)
12	g.5045232_5045233delinsTG	CA2013431138	KCNA5	c.1085_1086delinsTG (p.Val362=)
12	g.5045233G>A	CA478095378	KCNA5	c.1086G>A (p.Val362=)
12	g.5045233G>C	CA478095379	KCNA5	c.1086G>C (p.Val362=)
12	g.5045233G=	CA2013431139	KCNA5	c.1086G= (p.Val362=)
12	g.5045233G>T	CA478095380	KCNA5	c.1086G>T (p.Val362=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045234del	CA919011873	KCNA5	c.1087del (p.Val363TrpfsTer?)	dbSNP gnomAD v4
12	g.5045234G>A	CA383465751	KCNA5	c.1087G>A (p.Val363Met)	gnomAD v4
12	g.5045234G>C	CA383465752	KCNA5	c.1087G>C (p.Val363Leu)	gnomAD v4
12	g.5045234G>T	CA383465753	KCNA5	c.1087G>T (p.Val363Leu)
12	g.5045235T>A	CA383465754	KCNA5	c.1088T>A (p.Val363Glu)
12	g.5045235T>C	CA383465755	KCNA5	c.1088T>C (p.Val363Ala)
12	g.5045235T>G	CA383465756	KCNA5	c.1088T>G (p.Val363Gly)
12	g.5045236G>A	CA478095385	KCNA5	c.1089G>A (p.Val363=)
12	g.5045236G>C	CA478095387	KCNA5	c.1089G>C (p.Val363=)
12	g.5045236G=	CA2013431140	KCNA5	c.1089G= (p.Val363=)
12	g.5045236G>T	CA478095386	KCNA5	c.1089G>T (p.Val363=)	dbSNP
12	g.5045237G>A	CA383465757	KCNA5	c.1090G>A (p.Ala364Thr)	gnomAD v4
12	g.5045237G>C	CA383465758	KCNA5	c.1090G>C (p.Ala364Pro)
12	g.5045237G>T	CA383465759	KCNA5	c.1090G>T (p.Ala364Ser)
12	g.5045238C>A	CA383465760	KCNA5	c.1091C>A (p.Ala364Asp)
12	g.5045238C=	CA2013431141	KCNA5	c.1091C= (p.Ala364=)
12	g.5045238C>G	CA231868433	KCNA5	c.1091C>G (p.Ala364Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045238C>T	CA383465761	KCNA5	c.1091C>T (p.Ala364Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045239C>A	CA478095389	KCNA5	c.1092C>A (p.Ala364=)
12	g.5045239C=	CA2013431142	KCNA5	c.1092C= (p.Ala364=)
12	g.5045239C>G	CA478095393	KCNA5	c.1092C>G (p.Ala364=)
12	g.5045239C>T	CA478095390	KCNA5	c.1092C>T (p.Ala364=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045240A=	CA2013431143	KCNA5	c.1093A= (p.Ile365=)
12	g.5045240A>C	CA383465762	KCNA5	c.1093A>C (p.Ile365Leu)
12	g.5045240A>G	CA6399801	KCNA5	c.1093A>G (p.Ile365Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045240A>T	CA383465763	KCNA5	c.1093A>T (p.Ile365Phe)
12	g.5045241T>A	CA383465764	KCNA5	c.1094T>A (p.Ile365Asn)
12	g.5045241T>C	CA383465766	KCNA5	c.1094T>C (p.Ile365Thr)
12	g.5045241T>G	CA383465765	KCNA5	c.1094T>G (p.Ile365Ser)
12	g.5045242C>A	CA478095397	KCNA5	c.1095C>A (p.Ile365=)	gnomAD v4
12	g.5045242C>G	CA383465767	KCNA5	c.1095C>G (p.Ile365Met)	COSMIC
12	g.5045242C>T	CA478095395	KCNA5	c.1095C>T (p.Ile365=)
12	g.5045243T>A	CA383465768	KCNA5	c.1096T>A (p.Phe366Ile)
12	g.5045243T>C	CA383465769	KCNA5	c.1096T>C (p.Phe366Leu)	gnomAD v4
12	g.5045243T>G	CA383465770	KCNA5	c.1096T>G (p.Phe366Val)
12	g.5045244T>A	CA383465771	KCNA5	c.1097T>A (p.Phe366Tyr)
12	g.5045244T>C	CA383465772	KCNA5	c.1097T>C (p.Phe366Ser)
12	g.5045244T>G	CA383465773	KCNA5	c.1097T>G (p.Phe366Cys)
12	g.5045244T=	CA2013431144	KCNA5	c.1097T= (p.Phe366=)
12	g.5045245C>A	CA383465774	KCNA5	c.1098C>A (p.Phe366Leu)	COSMIC
12	g.5045245C>G	CA383465775	KCNA5	c.1098C>G (p.Phe366Leu)
12	g.5045245C>T	CA478095401	KCNA5	c.1098C>T (p.Phe366=)
12	g.5045248dup	CA231868461	KCNA5	c.1101dup (p.Tyr368LeufsTer?)	dbSNP
12	g.5045246C>A	CA383465776	KCNA5	c.1099C>A (p.Pro367Thr)
12	g.5045246C=	CA2013431145	KCNA5	c.1099C= (p.Pro367=)
12	g.5045246C>G	CA231868472	KCNA5	c.1099C>G (p.Pro367Ala)	dbSNP
12	g.5045246C>T	CA383465777	KCNA5	c.1099C>T (p.Pro367Ser)	gnomAD v4
12	g.5045247C>A	CA383465778	KCNA5	c.1100C>A (p.Pro367His)	COSMIC
12	g.5045247C=	CA2013431146	KCNA5	c.1100C= (p.Pro367=)
12	g.5045247C>G	CA383465780	KCNA5	c.1100C>G (p.Pro367Arg)	dbSNP
12	g.5045247C>T	CA383465779	KCNA5	c.1100C>T (p.Pro367Leu)
12	g.5045248C>A	CA478095403	KCNA5	c.1101C>A (p.Pro367=)
12	g.5045248C=	CA2013431147	KCNA5	c.1101C= (p.Pro367=)
12	g.5045248C>G	CA478095404	KCNA5	c.1101C>G (p.Pro367=)
12	g.5045248C>T	CA6399802	KCNA5	c.1101C>T (p.Pro367=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045249T>A	CA383465781	KCNA5	c.1102T>A (p.Tyr368Asn)	dbSNP gnomAD v4
12	g.5045249T>C	CA383465782	KCNA5	c.1102T>C (p.Tyr368His)
12	g.5045249T>G	CA383465783	KCNA5	c.1102T>G (p.Tyr368Asp)
12	g.5045249T=	CA2013431149	KCNA5	c.1102T= (p.Tyr368=)
12	g.5045249_5045257delinsTACTTCATC	CA2013431148	KCNA5	c.1102_1110delinsTACTTCATC (p.Tyr368=)
12	g.5045250A=	CA2013431150	KCNA5	c.1103A= (p.Tyr368=)
12	g.5045250A>C	CA383465784	KCNA5	c.1103A>C (p.Tyr368Ser)
12	g.5045250A>G	CA383465785	KCNA5	c.1103A>G (p.Tyr368Cys)	dbSNP gnomAD v3 gnomAD v4
12	g.5045250A>T	CA383465786	KCNA5	c.1103A>T (p.Tyr368Phe)	gnomAD v4
12	g.5045252_5045259del	CA603482589	KCNA5	c.1105_1112del (p.Phe369ProfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045251C>A	CA383465787	KCNA5	c.1104C>A (p.Tyr368Ter)
12	g.5045251C=	CA2013431151	KCNA5	c.1104C= (p.Tyr368=)
12	g.5045251C>G	CA383465788	KCNA5	c.1104C>G (p.Tyr368Ter)	COSMIC
12	g.5045251C>T	CA231868473	KCNA5	c.1104C>T (p.Tyr368=)	dbSNP gnomAD v4
12	g.5045252T>A	CA383465790	KCNA5	c.1105T>A (p.Phe369Ile)	gnomAD v4
12	g.5045252T>C	CA383465791	KCNA5	c.1105T>C (p.Phe369Leu)
12	g.5045252T>G	CA383465789	KCNA5	c.1105T>G (p.Phe369Val)	dbSNP
12	g.5045252T=	CA2013431152	KCNA5	c.1105T= (p.Phe369=)
12	g.5045253T>A	CA383465792	KCNA5	c.1106T>A (p.Phe369Tyr)
12	g.5045253T>C	CA383465793	KCNA5	c.1106T>C (p.Phe369Ser)
12	g.5045253T>G	CA383465794	KCNA5	c.1106T>G (p.Phe369Cys)
12	g.5045254C>A	CA383465795	KCNA5	c.1107C>A (p.Phe369Leu)
12	g.5045254C>G	CA383465796	KCNA5	c.1107C>G (p.Phe369Leu)
12	g.5045254C>T	CA478095409	KCNA5	c.1107C>T (p.Phe369=)
12	g.5045255A>C	CA383465797	KCNA5	c.1108A>C (p.Ile370Leu)
12	g.5045255A>G	CA383465798	KCNA5	c.1108A>G (p.Ile370Val)
12	g.5045255A>T	CA383465799	KCNA5	c.1108A>T (p.Ile370Phe)	gnomAD v4
12	g.5045256T>A	CA383465800	KCNA5	c.1109T>A (p.Ile370Asn)
12	g.5045256T>C	CA383465801	KCNA5	c.1109T>C (p.Ile370Thr)
12	g.5045256T>G	CA383465802	KCNA5	c.1109T>G (p.Ile370Ser)
12	g.5045257C>A	CA478095411	KCNA5	c.1110C>A (p.Ile370=)
12	g.5045257C>G	CA383465803	KCNA5	c.1110C>G (p.Ile370Met)
12	g.5045257C>T	CA478095412	KCNA5	c.1110C>T (p.Ile370=)
12	g.5045258A>C	CA383465805	KCNA5	c.1111A>C (p.Thr371Pro)
12	g.5045258A>G	CA383465806	KCNA5	c.1111A>G (p.Thr371Ala)
12	g.5045258A>T	CA383465804	KCNA5	c.1111A>T (p.Thr371Ser)
12	g.5045259C>A	CA383465807	KCNA5	c.1112C>A (p.Thr371Asn)
12	g.5045259C=	CA2013431153	KCNA5	c.1112C= (p.Thr371=)
12	g.5045259C>G	CA383465808	KCNA5	c.1112C>G (p.Thr371Ser)	dbSNP
12	g.5045259C>T	CA383465809	KCNA5	c.1112C>T (p.Thr371Ile)	gnomAD v4
12	g.5045260C>A	CA478095414	KCNA5	c.1113C>A (p.Thr371=)
12	g.5045260C>G	CA478095415	KCNA5	c.1113C>G (p.Thr371=)
12	g.5045260C>T	CA478095416	KCNA5	c.1113C>T (p.Thr371=)	gnomAD v4
12	g.5045261C>A	CA383465810	KCNA5	c.1114C>A (p.Leu372Met)	ClinVar dbSNP
12	g.5045261C=	CA2013431154	KCNA5	c.1114C= (p.Leu372=)
12	g.5045261C>G	CA231868474	KCNA5	c.1114C>G (p.Leu372Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045261C>T	CA478095417	KCNA5	c.1114C>T (p.Leu372=)	ClinVar dbSNP
12	g.5045262T>A	CA383465813	KCNA5	c.1115T>A (p.Leu372Gln)
12	g.5045262T>C	CA383465811	KCNA5	c.1115T>C (p.Leu372Pro)
12	g.5045262T>G	CA383465812	KCNA5	c.1115T>G (p.Leu372Arg)
12	g.5045263G>A	CA478095418	KCNA5	c.1116G>A (p.Leu372=)	dbSNP gnomAD v4
12	g.5045263G>C	CA478095419	KCNA5	c.1116G>C (p.Leu372=)
12	g.5045263G=	CA2013431155	KCNA5	c.1116G= (p.Leu372=)
12	g.5045263G>T	CA478095420	KCNA5	c.1116G>T (p.Leu372=)
12	g.5045263_5045274delinsGGGCACCGAACT	CA2013431156	KCNA5	c.1116_1127delinsGGGCACCGAACT (p.Leu372=)
12	g.5045264G>A	CA383465814	KCNA5	c.1117G>A (p.Gly373Ser)	gnomAD v4
12	g.5045264G>C	CA383465815	KCNA5	c.1117G>C (p.Gly373Arg)
12	g.5045264G>T	CA383465816	KCNA5	c.1117G>T (p.Gly373Cys)
12	g.5045268_5045278del	CA2013431157	KCNA5	c.1121_1131del (p.Thr374ArgfsTer?)	dbSNP
12	g.5045265G>A	CA383465817	KCNA5	c.1118G>A (p.Gly373Asp)
12	g.5045265G>C	CA383465818	KCNA5	c.1118G>C (p.Gly373Ala)
12	g.5045265G=	CA2013431158	KCNA5	c.1118G= (p.Gly373=)
12	g.5045265G>T	CA383465819	KCNA5	c.1118G>T (p.Gly373Val)	dbSNP gnomAD v2 gnomAD v4
12	g.5045266C>A	CA478095424	KCNA5	c.1119C>A (p.Gly373=)
12	g.5045266C>G	CA478095425	KCNA5	c.1119C>G (p.Gly373=)
12	g.5045266C>T	CA478095426	KCNA5	c.1119C>T (p.Gly373=)
12	g.5045267A>C	CA383465821	KCNA5	c.1120A>C (p.Thr374Pro)
12	g.5045267A>G	CA383465822	KCNA5	c.1120A>G (p.Thr374Ala)
12	g.5045267A>T	CA383465820	KCNA5	c.1120A>T (p.Thr374Ser)
12	g.5045268C>A	CA383465824	KCNA5	c.1121C>A (p.Thr374Asn)	COSMIC
12	g.5045268C>G	CA383465823	KCNA5	c.1121C>G (p.Thr374Ser)
12	g.5045268C>T	CA383465825	KCNA5	c.1121C>T (p.Thr374Ile)	gnomAD v4 COSMIC
12	g.5045269C>A	CA478095434	KCNA5	c.1122C>A (p.Thr374=)	dbSNP
12	g.5045269C=	CA2013431159	KCNA5	c.1122C= (p.Thr374=)
12	g.5045269C>G	CA6399803	KCNA5	c.1122C>G (p.Thr374=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045269C>T	CA231868483	KCNA5	c.1122C>T (p.Thr374=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045270G>A	CA231868487	KCNA5	c.1123G>A (p.Glu375Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045270G>C	CA383465826	KCNA5	c.1123G>C (p.Glu375Gln)
12	g.5045270G=	CA2013431160	KCNA5	c.1123G= (p.Glu375=)
12	g.5045270G>T	CA123122	KCNA5	c.1123G>T (p.Glu375Ter)	ClinVar dbSNP gnomAD v4
12	g.5045271A>C	CA383465827	KCNA5	c.1124A>C (p.Glu375Ala)
12	g.5045271A>G	CA383465829	KCNA5	c.1124A>G (p.Glu375Gly)
12	g.5045271A>T	CA383465828	KCNA5	c.1124A>T (p.Glu375Val)
12	g.5045272A=	CA2013431161	KCNA5	c.1125A= (p.Glu375=)
12	g.5045272A>C	CA383465830	KCNA5	c.1125A>C (p.Glu375Asp)
12	g.5045272A>G	CA478095438	KCNA5	c.1125A>G (p.Glu375=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045272A>T	CA383465831	KCNA5	c.1125A>T (p.Glu375Asp)
12	g.5045273C>A	CA383465832	KCNA5	c.1126C>A (p.Leu376Met)
12	g.5045273C=	CA2013431162	KCNA5	c.1126C= (p.Leu376=)
12	g.5045273C>G	CA383465833	KCNA5	c.1126C>G (p.Leu376Val)
12	g.5045273C>T	CA478095441	KCNA5	c.1126C>T (p.Leu376=)	dbSNP gnomAD v4
12	g.5045274T>A	CA383465834	KCNA5	c.1127T>A (p.Leu376Gln)
12	g.5045274T>C	CA383465835	KCNA5	c.1127T>C (p.Leu376Pro)
12	g.5045274T>G	CA383465836	KCNA5	c.1127T>G (p.Leu376Arg)
12	g.5045275G>A	CA478095447	KCNA5	c.1128G>A (p.Leu376=)
12	g.5045275G>C	CA478095446	KCNA5	c.1128G>C (p.Leu376=)
12	g.5045275G>T	CA478095445	KCNA5	c.1128G>T (p.Leu376=)
12	g.5045276G>A	CA383465837	KCNA5	c.1129G>A (p.Ala377Thr)
12	g.5045276G>C	CA383465838	KCNA5	c.1129G>C (p.Ala377Pro)
12	g.5045276G>T	CA383465839	KCNA5	c.1129G>T (p.Ala377Ser)
12	g.5045276_5045277insTG	CA2617209916	KCNA5	c.1129_1130insTG (p.Ala377ValfsTer?)	gnomAD v4
12	g.5045277C>A	CA383465842	KCNA5	c.1130C>A (p.Ala377Glu)	gnomAD v4
12	g.5045277C>G	CA383465841	KCNA5	c.1130C>G (p.Ala377Gly)
12	g.5045277C>T	CA383465840	KCNA5	c.1130C>T (p.Ala377Val)	gnomAD v4
12	g.5045278A>C	CA478095454	KCNA5	c.1131A>C (p.Ala377=)
12	g.5045278A>G	CA478095452	KCNA5	c.1131A>G (p.Ala377=)
12	g.5045278A>T	CA478095451	KCNA5	c.1131A>T (p.Ala377=)

Number of alleles fetched