Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044796G>A	CA383464863	KCNA5	c.649G>A (p.Glu217Lys)	ClinVar dbSNP gnomAD v4
12	g.5044796G>C	CA383464864	KCNA5	c.649G>C (p.Glu217Gln)	gnomAD v4
12	g.5044796G=	CA2013430883	KCNA5	c.649G= (p.Glu217=)
12	g.5044796G>T	CA383464865	KCNA5	c.649G>T (p.Glu217Ter)
12	g.5044797A=	CA2013430884	KCNA5	c.650A= (p.Glu217=)
12	g.5044797A>C	CA383464866	KCNA5	c.650A>C (p.Glu217Ala)	dbSNP
12	g.5044797A>G	CA383464867	KCNA5	c.650A>G (p.Glu217Gly)
12	g.5044797A>T	CA383464868	KCNA5	c.650A>T (p.Glu217Val)
12	g.5044798G>A	CA6399687	KCNA5	c.651G>A (p.Glu217=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044798G>C	CA383464870	KCNA5	c.651G>C (p.Glu217Asp)
12	g.5044798G=	CA2013430885	KCNA5	c.651G= (p.Glu217=)
12	g.5044798G>T	CA383464869	KCNA5	c.651G>T (p.Glu217Asp)
12	g.5044799G>A	CA383464871	KCNA5	c.652G>A (p.Gly218Ser)
12	g.5044799G>C	CA383464872	KCNA5	c.652G>C (p.Gly218Arg)
12	g.5044799G>T	CA383464873	KCNA5	c.652G>T (p.Gly218Cys)
12	g.5044800G>A	CA383464874	KCNA5	c.653G>A (p.Gly218Asp)
12	g.5044800G>C	CA383464875	KCNA5	c.653G>C (p.Gly218Ala)
12	g.5044800G=	CA2013430886	KCNA5	c.653G= (p.Gly218=)
12	g.5044800G>T	CA6399688	KCNA5	c.653G>T (p.Gly218Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044801C>A	CA478095162	KCNA5	c.654C>A (p.Gly218=)
12	g.5044801C>G	CA478095163	KCNA5	c.654C>G (p.Gly218=)
12	g.5044801C>T	CA478095161	KCNA5	c.654C>T (p.Gly218=)
12	g.5044802T>A	CA383464876	KCNA5	c.655T>A (p.Phe219Ile)
12	g.5044802T>C	CA383464877	KCNA5	c.655T>C (p.Phe219Leu)
12	g.5044802T>G	CA383464878	KCNA5	c.655T>G (p.Phe219Val)
12	g.5044803T>A	CA383464879	KCNA5	c.656T>A (p.Phe219Tyr)
12	g.5044803T>C	CA383464880	KCNA5	c.656T>C (p.Phe219Ser)
12	g.5044803T>G	CA383464881	KCNA5	c.656T>G (p.Phe219Cys)
12	g.5044804C>A	CA383464883	KCNA5	c.657C>A (p.Phe219Leu)
12	g.5044804C=	CA2013430887	KCNA5	c.657C= (p.Phe219=)
12	g.5044804C>G	CA383464882	KCNA5	c.657C>G (p.Phe219Leu)
12	g.5044804C>T	CA478095165	KCNA5	c.657C>T (p.Phe219=)	dbSNP
12	g.5044805A=	CA2013430888	KCNA5	c.658A= (p.Ile220=)
12	g.5044805A>C	CA383464884	KCNA5	c.658A>C (p.Ile220Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044805A>G	CA383464886	KCNA5	c.658A>G (p.Ile220Val)
12	g.5044805A>T	CA383464885	KCNA5	c.658A>T (p.Ile220Phe)
12	g.5044806T>A	CA383464887	KCNA5	c.659T>A (p.Ile220Asn)
12	g.5044806T>C	CA383464888	KCNA5	c.659T>C (p.Ile220Thr)
12	g.5044806T>G	CA383464889	KCNA5	c.659T>G (p.Ile220Ser)
12	g.5044807T>A	CA478095168	KCNA5	c.660T>A (p.Ile220=)
12	g.5044807T>C	CA478095166	KCNA5	c.660T>C (p.Ile220=)	dbSNP gnomAD v4
12	g.5044807T>G	CA383464890	KCNA5	c.660T>G (p.Ile220Met)
12	g.5044807T=	CA2013430889	KCNA5	c.660T= (p.Ile220=)
12	g.5044808A>C	CA383464891	KCNA5	c.661A>C (p.Lys221Gln)
12	g.5044808A>G	CA383464892	KCNA5	c.661A>G (p.Lys221Glu)
12	g.5044808A>T	CA383464893	KCNA5	c.661A>T (p.Lys221Ter)
12	g.5044809A=	CA2013430890	KCNA5	c.662A= (p.Lys221=)
12	g.5044809A>C	CA383464894	KCNA5	c.662A>C (p.Lys221Thr)
12	g.5044809A>G	CA231867640	KCNA5	c.662A>G (p.Lys221Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.5044809A>T	CA383464895	KCNA5	c.662A>T (p.Lys221Ile)
12	g.5044813_5044815del	CA2617209903	KCNA5	c.666_668del (p.Glu223del)	gnomAD v4
12	g.5044810A>C	CA383464896	KCNA5	c.663A>C (p.Lys221Asn)
12	g.5044810A>G	CA478095169	KCNA5	c.663A>G (p.Lys221=)
12	g.5044810A>T	CA383464897	KCNA5	c.663A>T (p.Lys221Asn)
12	g.5044811G>A	CA383464900	KCNA5	c.664G>A (p.Glu222Lys)	gnomAD v4
12	g.5044811G>C	CA383464898	KCNA5	c.664G>C (p.Glu222Gln)
12	g.5044811G>T	CA383464899	KCNA5	c.664G>T (p.Glu222Ter)
12	g.5044812A>C	CA383464901	KCNA5	c.665A>C (p.Glu222Ala)
12	g.5044812A>G	CA383464902	KCNA5	c.665A>G (p.Glu222Gly)
12	g.5044812A>T	CA383464903	KCNA5	c.665A>T (p.Glu222Val)
12	g.5044813A>C	CA383464904	KCNA5	c.666A>C (p.Glu222Asp)	gnomAD v4
12	g.5044813A>G	CA478095172	KCNA5	c.666A>G (p.Glu222=)
12	g.5044813A>T	CA383464905	KCNA5	c.666A>T (p.Glu222Asp)
12	g.5044813_5044814delinsAG	CA2013430892	KCNA5	c.666_667delinsAG (p.Glu222=)
12	g.5044813_5044816delinsAGAG	CA2013430891	KCNA5	c.666_669delinsAGAG (p.Glu222=)
12	g.5044814del	CA2013430893	KCNA5	c.667del (p.Glu223ArgfsTer?)	dbSNP gnomAD v4
12	g.5044814G>A	CA6399690	KCNA5	c.667G>A (p.Glu223Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044814G>C	CA383464906	KCNA5	c.667G>C (p.Glu223Gln)	gnomAD v4
12	g.5044814G=	CA2013430894	KCNA5	c.667G= (p.Glu223=)
12	g.5044814G>T	CA383464907	KCNA5	c.667G>T (p.Glu223Ter)
12	g.5044817_5044819del	CA6399689	KCNA5	c.670_672del (p.Glu224del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044815A>C	CA383464908	KCNA5	c.668A>C (p.Glu223Ala)
12	g.5044815A>G	CA383464909	KCNA5	c.668A>G (p.Glu223Gly)
12	g.5044815A>T	CA383464910	KCNA5	c.668A>T (p.Glu223Val)	COSMIC
12	g.5044815_5044816delinsAG	CA2013430895	KCNA5	c.668_669delinsAG (p.Glu223=)
12	g.5044816G>A	CA478095173	KCNA5	c.669G>A (p.Glu223=)
12	g.5044816G>C	CA383464912	KCNA5	c.669G>C (p.Glu223Asp)	dbSNP
12	g.5044816G=	CA2013430896	KCNA5	c.669G= (p.Glu223=)
12	g.5044816G>T	CA383464911	KCNA5	c.669G>T (p.Glu223Asp)
12	g.5044817del	CA1139662474	KCNA5	c.670del (p.Glu224ArgfsTer?)	ClinVar dbSNP
12	g.5044817G>A	CA383464913	KCNA5	c.670G>A (p.Glu224Lys)	dbSNP gnomAD v3 gnomAD v4
12	g.5044817G>C	CA383464915	KCNA5	c.670G>C (p.Glu224Gln)
12	g.5044817G=	CA2013430897	KCNA5	c.670G= (p.Glu224=)
12	g.5044817G>T	CA383464914	KCNA5	c.670G>T (p.Glu224Ter)
12	g.5044818A>C	CA383464916	KCNA5	c.671A>C (p.Glu224Ala)
12	g.5044818A>G	CA383464917	KCNA5	c.671A>G (p.Glu224Gly)
12	g.5044818A>T	CA383464918	KCNA5	c.671A>T (p.Glu224Val)
12	g.5044819G>A	CA478095177	KCNA5	c.672G>A (p.Glu224=)	gnomAD v4
12	g.5044819G>C	CA383464919	KCNA5	c.672G>C (p.Glu224Asp)	dbSNP
12	g.5044819G>T	CA383464920	KCNA5	c.672G>T (p.Glu224Asp)
12	g.5044820A>C	CA383464921	KCNA5	c.673A>C (p.Lys225Gln)
12	g.5044820A>G	CA383464922	KCNA5	c.673A>G (p.Lys225Glu)
12	g.5044820A>T	CA383464923	KCNA5	c.673A>T (p.Lys225Ter)	gnomAD v4
12	g.5044821A>C	CA383464924	KCNA5	c.674A>C (p.Lys225Thr)
12	g.5044821A>G	CA383464925	KCNA5	c.674A>G (p.Lys225Arg)	gnomAD v4
12	g.5044821A>T	CA383464926	KCNA5	c.674A>T (p.Lys225Met)
12	g.5044822G>A	CA6399691	KCNA5	c.675G>A (p.Lys225=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044822G>C	CA383464928	KCNA5	c.675G>C (p.Lys225Asn)
12	g.5044822G=	CA2013430898	KCNA5	c.675G= (p.Lys225=)
12	g.5044822G>T	CA383464927	KCNA5	c.675G>T (p.Lys225Asn)
12	g.5044823C>A	CA383464929	KCNA5	c.676C>A (p.Pro226Thr)
12	g.5044823C=	CA2013430899	KCNA5	c.676C= (p.Pro226=)
12	g.5044823C>G	CA383464930	KCNA5	c.676C>G (p.Pro226Ala)
12	g.5044823C>T	CA383464931	KCNA5	c.676C>T (p.Pro226Ser)	gnomAD v4
12	g.5044824C>A	CA383464932	KCNA5	c.677C>A (p.Pro226His)	gnomAD v4
12	g.5044824C>G	CA383464933	KCNA5	c.677C>G (p.Pro226Arg)
12	g.5044824C>T	CA383464934	KCNA5	c.677C>T (p.Pro226Leu)	gnomAD v4
12	g.5044824_5044827dup	CA603482588	KCNA5	c.677_680dup (p.Arg229AlafsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044825C>A	CA6399692	KCNA5	c.678C>A (p.Pro226=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044825C=	CA2013430900	KCNA5	c.678C= (p.Pro226=)
12	g.5044825C>G	CA478095180	KCNA5	c.678C>G (p.Pro226=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044825C>T	CA478095179	KCNA5	c.678C>T (p.Pro226=)	gnomAD v4
12	g.5044826C>A	CA383464935	KCNA5	c.679C>A (p.Leu227Met)
12	g.5044826C=	CA2013430901	KCNA5	c.679C= (p.Leu227=)
12	g.5044826C>G	CA383464936	KCNA5	c.679C>G (p.Leu227Val)
12	g.5044826C>T	CA478095182	KCNA5	c.679C>T (p.Leu227=)	dbSNP
12	g.5044827T>A	CA383464937	KCNA5	c.680T>A (p.Leu227Gln)
12	g.5044827T>C	CA383464938	KCNA5	c.680T>C (p.Leu227Pro)
12	g.5044827T>G	CA383464939	KCNA5	c.680T>G (p.Leu227Arg)
12	g.5044828G>A	CA6399693	KCNA5	c.681G>A (p.Leu227=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044828G>C	CA478095184	KCNA5	c.681G>C (p.Leu227=)
12	g.5044828G=	CA2013430902	KCNA5	c.681G= (p.Leu227=)
12	g.5044828G>T	CA478095185	KCNA5	c.681G>T (p.Leu227=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044829C>A	CA6399694	KCNA5	c.682C>A (p.Pro228Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044829C=	CA2013430903	KCNA5	c.682C= (p.Pro228=)
12	g.5044829C>G	CA383464940	KCNA5	c.682C>G (p.Pro228Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.5044829C>T	CA231867649	KCNA5	c.682C>T (p.Pro228Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5044830C>A	CA383464941	KCNA5	c.683C>A (p.Pro228His)	ClinVar dbSNP
12	g.5044830C=	CA2013430904	KCNA5	c.683C= (p.Pro228=)
12	g.5044830C>G	CA383464943	KCNA5	c.683C>G (p.Pro228Arg)
12	g.5044830C>T	CA383464942	KCNA5	c.683C>T (p.Pro228Leu)
12	g.5044831C>A	CA478095186	KCNA5	c.684C>A (p.Pro228=)
12	g.5044831C>G	CA478095188	KCNA5	c.684C>G (p.Pro228=)
12	g.5044831C>T	CA478095187	KCNA5	c.684C>T (p.Pro228=)
12	g.5044832C>A	CA383464944	KCNA5	c.685C>A (p.Arg229Ser)
12	g.5044832C=	CA2013430905	KCNA5	c.685C= (p.Arg229=)
12	g.5044832C>G	CA383464946	KCNA5	c.685C>G (p.Arg229Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5044832C>T	CA383464945	KCNA5	c.685C>T (p.Arg229Cys)	dbSNP gnomAD v4
12	g.5044833G>A	CA6399695	KCNA5	c.686G>A (p.Arg229His)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5044833G>C	CA383464948	KCNA5	c.686G>C (p.Arg229Pro)
12	g.5044833G=	CA2013430906	KCNA5	c.686G= (p.Arg229=)
12	g.5044833G>T	CA383464947	KCNA5	c.686G>T (p.Arg229Leu)	dbSNP
12	g.5044834C>A	CA478095190	KCNA5	c.687C>A (p.Arg229=)	gnomAD v4
12	g.5044834C>G	CA478095191	KCNA5	c.687C>G (p.Arg229=)	gnomAD v4
12	g.5044834C>T	CA478095192	KCNA5	c.687C>T (p.Arg229=)
12	g.5044835A=	CA2013430907	KCNA5	c.688A= (p.Asn230=)
12	g.5044835A>C	CA383464949	KCNA5	c.688A>C (p.Asn230His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044835A>G	CA383464951	KCNA5	c.688A>G (p.Asn230Asp)
12	g.5044835A>T	CA383464950	KCNA5	c.688A>T (p.Asn230Tyr)
12	g.5044836A=	CA2013430908	KCNA5	c.689A= (p.Asn230=)
12	g.5044836A>C	CA383464952	KCNA5	c.689A>C (p.Asn230Thr)
12	g.5044836A>G	CA383464954	KCNA5	c.689A>G (p.Asn230Ser)	ClinVar dbSNP
12	g.5044836A>T	CA383464953	KCNA5	c.689A>T (p.Asn230Ile)
12	g.5044837C>A	CA383464955	KCNA5	c.690C>A (p.Asn230Lys)	gnomAD v4
12	g.5044837C=	CA2013430909	KCNA5	c.690C= (p.Asn230=)
12	g.5044837C>G	CA6399696	KCNA5	c.690C>G (p.Asn230Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044837C>T	CA478095194	KCNA5	c.690C>T (p.Asn230=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5044838G>A	CA383464956	KCNA5	c.691G>A (p.Glu231Lys)	dbSNP gnomAD v4
12	g.5044838G>C	CA383464958	KCNA5	c.691G>C (p.Glu231Gln)	gnomAD v4
12	g.5044838G=	CA2013430910	KCNA5	c.691G= (p.Glu231=)
12	g.5044838G>T	CA383464957	KCNA5	c.691G>T (p.Glu231Ter)
12	g.5044839A>C	CA383464959	KCNA5	c.692A>C (p.Glu231Ala)
12	g.5044839A>G	CA383464961	KCNA5	c.692A>G (p.Glu231Gly)
12	g.5044839A>T	CA383464960	KCNA5	c.692A>T (p.Glu231Val)	gnomAD v4
12	g.5044840G>A	CA478095195	KCNA5	c.693G>A (p.Glu231=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044840G>C	CA383464962	KCNA5	c.693G>C (p.Glu231Asp)
12	g.5044840G=	CA2013430911	KCNA5	c.693G= (p.Glu231=)
12	g.5044840G>T	CA6399697	KCNA5	c.693G>T (p.Glu231Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044841T>A	CA383464963	KCNA5	c.694T>A (p.Phe232Ile)
12	g.5044841T>C	CA383464964	KCNA5	c.694T>C (p.Phe232Leu)
12	g.5044841T>G	CA383464965	KCNA5	c.694T>G (p.Phe232Val)
12	g.5044842T>A	CA383464966	KCNA5	c.695T>A (p.Phe232Tyr)
12	g.5044842T>C	CA383464967	KCNA5	c.695T>C (p.Phe232Ser)
12	g.5044842T>G	CA383464968	KCNA5	c.695T>G (p.Phe232Cys)
12	g.5044843C>A	CA383464969	KCNA5	c.696C>A (p.Phe232Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044843C=	CA2013430912	KCNA5	c.696C= (p.Phe232=)
12	g.5044843C>G	CA383464970	KCNA5	c.696C>G (p.Phe232Leu)
12	g.5044843C>T	CA478095198	KCNA5	c.696C>T (p.Phe232=)
12	g.5044844C>A	CA383464973	KCNA5	c.697C>A (p.Gln233Lys)
12	g.5044844C>G	CA383464972	KCNA5	c.697C>G (p.Gln233Glu)
12	g.5044844C>T	CA383464971	KCNA5	c.697C>T (p.Gln233Ter)
12	g.5044845A>C	CA383464974	KCNA5	c.698A>C (p.Gln233Pro)
12	g.5044845A>G	CA383464975	KCNA5	c.698A>G (p.Gln233Arg)
12	g.5044845A>T	CA383464976	KCNA5	c.698A>T (p.Gln233Leu)
12	g.5044846G>A	CA478095200	KCNA5	c.699G>A (p.Gln233=)
12	g.5044846G>C	CA383464977	KCNA5	c.699G>C (p.Gln233His)
12	g.5044846G>T	CA383464978	KCNA5	c.699G>T (p.Gln233His)
12	g.5044847C>A	CA231867672	KCNA5	c.700C>A (p.Arg234Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044847C=	CA2013430913	KCNA5	c.700C= (p.Arg234=)
12	g.5044847C>G	CA383464979	KCNA5	c.700C>G (p.Arg234Gly)	COSMIC
12	g.5044847C>T	CA6399698	KCNA5	c.700C>T (p.Arg234Cys)	dbSNP ExAC gnomAD v2 COSMIC
12	g.5044848G>A	CA383464980	KCNA5	c.701G>A (p.Arg234His)	COSMIC
12	g.5044848G>C	CA383464981	KCNA5	c.701G>C (p.Arg234Pro)
12	g.5044848G=	CA2013430914	KCNA5	c.701G= (p.Arg234=)
12	g.5044848G>T	CA236717	KCNA5	c.701G>T (p.Arg234Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044849C>A	CA478095295	KCNA5	c.702C>A (p.Arg234=)
12	g.5044849C>G	CA478095296	KCNA5	c.702C>G (p.Arg234=)
12	g.5044849C>T	CA478095294	KCNA5	c.702C>T (p.Arg234=)	gnomAD v4
12	g.5044850C>A	CA383464983	KCNA5	c.703C>A (p.Gln235Lys)
12	g.5044850C=	CA2013430915	KCNA5	c.703C= (p.Gln235=)
12	g.5044850C>G	CA383464982	KCNA5	c.703C>G (p.Gln235Glu)
12	g.5044850C>T	CA231867679	KCNA5	c.703C>T (p.Gln235Ter)	dbSNP
12	g.5044851A=	CA2013430916	KCNA5	c.704A= (p.Gln235=)
12	g.5044851A>C	CA383464984	KCNA5	c.704A>C (p.Gln235Pro)	ClinVar dbSNP gnomAD v4
12	g.5044851A>G	CA383464985	KCNA5	c.704A>G (p.Gln235Arg)	dbSNP
12	g.5044851A>T	CA383464986	KCNA5	c.704A>T (p.Gln235Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5044852G>A	CA478095300	KCNA5	c.705G>A (p.Gln235=)
12	g.5044852G>C	CA383464987	KCNA5	c.705G>C (p.Gln235His)
12	g.5044852G=	CA2013430917	KCNA5	c.705G= (p.Gln235=)
12	g.5044852G>T	CA6399699	KCNA5	c.705G>T (p.Gln235His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044853G>A	CA6399700	KCNA5	c.706G>A (p.Val236Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044853G>C	CA383464988	KCNA5	c.706G>C (p.Val236Leu)	gnomAD v4
12	g.5044853G=	CA2013430918	KCNA5	c.706G= (p.Val236=)
12	g.5044853G>T	CA383464989	KCNA5	c.706G>T (p.Val236Leu)	gnomAD v4
12	g.5044854T>A	CA383464990	KCNA5	c.707T>A (p.Val236Glu)
12	g.5044854T>C	CA383464991	KCNA5	c.707T>C (p.Val236Ala)	gnomAD v4
12	g.5044854T>G	CA383464992	KCNA5	c.707T>G (p.Val236Gly)
12	g.5044855G>A	CA478095304	KCNA5	c.708G>A (p.Val236=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044855G>C	CA478095305	KCNA5	c.708G>C (p.Val236=)
12	g.5044855G=	CA2013430919	KCNA5	c.708G= (p.Val236=)
12	g.5044855G>T	CA478095306	KCNA5	c.708G>T (p.Val236=)
12	g.5044856T>A	CA383464995	KCNA5	c.709T>A (p.Trp237Arg)
12	g.5044856T>C	CA383464994	KCNA5	c.709T>C (p.Trp237Arg)	dbSNP gnomAD v2
12	g.5044856T>G	CA383464993	KCNA5	c.709T>G (p.Trp237Gly)
12	g.5044856T=	CA2013430920	KCNA5	c.709T= (p.Trp237=)
12	g.5044857G>A	CA383464996	KCNA5	c.710G>A (p.Trp237Ter)	gnomAD v4
12	g.5044857G>C	CA383464997	KCNA5	c.710G>C (p.Trp237Ser)
12	g.5044857G>T	CA383464998	KCNA5	c.710G>T (p.Trp237Leu)
12	g.5044858G>A	CA383464999	KCNA5	c.711G>A (p.Trp237Ter)
12	g.5044858G>C	CA383465000	KCNA5	c.711G>C (p.Trp237Cys)
12	g.5044858G>T	CA383465001	KCNA5	c.711G>T (p.Trp237Cys)
12	g.5044859C>A	CA383465002	KCNA5	c.712C>A (p.Leu238Ile)
12	g.5044859C=	CA2013430921	KCNA5	c.712C= (p.Leu238=)
12	g.5044859C>G	CA383465003	KCNA5	c.712C>G (p.Leu238Val)
12	g.5044859C>T	CA6399701	KCNA5	c.712C>T (p.Leu238Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044860T>A	CA383465004	KCNA5	c.713T>A (p.Leu238His)
12	g.5044860T>C	CA383465005	KCNA5	c.713T>C (p.Leu238Pro)
12	g.5044860T>G	CA383465006	KCNA5	c.713T>G (p.Leu238Arg)
12	g.5044861T>A	CA478095312	KCNA5	c.714T>A (p.Leu238=)
12	g.5044861T>C	CA478095313	KCNA5	c.714T>C (p.Leu238=)
12	g.5044861T>G	CA231867712	KCNA5	c.714T>G (p.Leu238=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044861T=	CA2013430922	KCNA5	c.714T= (p.Leu238=)
12	g.5044862A>C	CA383465008	KCNA5	c.715A>C (p.Ile239Leu)
12	g.5044862A>G	CA383465007	KCNA5	c.715A>G (p.Ile239Val)
12	g.5044862A>T	CA383465009	KCNA5	c.715A>T (p.Ile239Phe)
12	g.5044863T>A	CA383465010	KCNA5	c.716T>A (p.Ile239Asn)
12	g.5044863T>C	CA383465011	KCNA5	c.716T>C (p.Ile239Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5044863T>G	CA383465012	KCNA5	c.716T>G (p.Ile239Ser)
12	g.5044863T=	CA2013430923	KCNA5	c.716T= (p.Ile239=)
12	g.5044864C>A	CA478095316	KCNA5	c.717C>A (p.Ile239=)	COSMIC
12	g.5044864C=	CA2013430924	KCNA5	c.717C= (p.Ile239=)
12	g.5044864C>G	CA383465013	KCNA5	c.717C>G (p.Ile239Met)
12	g.5044864C>T	CA6399702	KCNA5	c.717C>T (p.Ile239=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044865T>A	CA383465014	KCNA5	c.718T>A (p.Phe240Ile)
12	g.5044865T>C	CA383465015	KCNA5	c.718T>C (p.Phe240Leu)
12	g.5044865T>G	CA383465016	KCNA5	c.718T>G (p.Phe240Val)
12	g.5044866T>A	CA383465017	KCNA5	c.719T>A (p.Phe240Tyr)	gnomAD v4
12	g.5044866T>C	CA383465018	KCNA5	c.719T>C (p.Phe240Ser)
12	g.5044866T>G	CA6399703	KCNA5	c.719T>G (p.Phe240Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044866T=	CA2013430925	KCNA5	c.719T= (p.Phe240=)
12	g.5044867C>A	CA383465019	KCNA5	c.720C>A (p.Phe240Leu)
12	g.5044867C=	CA2013430926	KCNA5	c.720C= (p.Phe240=)
12	g.5044867C>G	CA383465020	KCNA5	c.720C>G (p.Phe240Leu)	dbSNP
12	g.5044867C>T	CA478095320	KCNA5	c.720C>T (p.Phe240=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044868G>A	CA383465021	KCNA5	c.721G>A (p.Glu241Lys)	dbSNP gnomAD v3 gnomAD v4
12	g.5044868G>C	CA383465023	KCNA5	c.721G>C (p.Glu241Gln)
12	g.5044868G=	CA2013430927	KCNA5	c.721G= (p.Glu241=)
12	g.5044868G>T	CA383465022	KCNA5	c.721G>T (p.Glu241Ter)
12	g.5044869A=	CA2013430928	KCNA5	c.722A= (p.Glu241=)
12	g.5044869A>C	CA383465024	KCNA5	c.722A>C (p.Glu241Ala)
12	g.5044869A>G	CA383465025	KCNA5	c.722A>G (p.Glu241Gly)
12	g.5044869A>T	CA383465026	KCNA5	c.722A>T (p.Glu241Val)	dbSNP gnomAD v2 gnomAD v4
12	g.5044870G>A	CA478095323	KCNA5	c.723G>A (p.Glu241=)
12	g.5044870G>C	CA383465027	KCNA5	c.723G>C (p.Glu241Asp)
12	g.5044870G>T	CA383465028	KCNA5	c.723G>T (p.Glu241Asp)
12	g.5044871T>A	CA383465029	KCNA5	c.724T>A (p.Tyr242Asn)
12	g.5044871T>C	CA383465030	KCNA5	c.724T>C (p.Tyr242His)
12	g.5044871T>G	CA383465031	KCNA5	c.724T>G (p.Tyr242Asp)	gnomAD v4
12	g.5044872A>C	CA383465032	KCNA5	c.725A>C (p.Tyr242Ser)
12	g.5044872A>G	CA383465033	KCNA5	c.725A>G (p.Tyr242Cys)
12	g.5044872A>T	CA383465034	KCNA5	c.725A>T (p.Tyr242Phe)
12	g.5044873T>A	CA383465035	KCNA5	c.726T>A (p.Tyr242Ter)
12	g.5044873T>C	CA478095326	KCNA5	c.726T>C (p.Tyr242=)
12	g.5044873T>G	CA383465036	KCNA5	c.726T>G (p.Tyr242Ter)
12	g.5044874C>A	CA383465037	KCNA5	c.727C>A (p.Pro243Thr)
12	g.5044874C=	CA2013430929	KCNA5	c.727C= (p.Pro243=)
12	g.5044874C>G	CA231867718	KCNA5	c.727C>G (p.Pro243Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044874C>T	CA383465038	KCNA5	c.727C>T (p.Pro243Ser)	gnomAD v4 COSMIC
12	g.5044875C>A	CA383465039	KCNA5	c.728C>A (p.Pro243Gln)
12	g.5044875C=	CA2013430930	KCNA5	c.728C= (p.Pro243=)
12	g.5044875C>G	CA383465040	KCNA5	c.728C>G (p.Pro243Arg)
12	g.5044875C>T	CA6399704	KCNA5	c.728C>T (p.Pro243Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044876G>A	CA6399705	KCNA5	c.729G>A (p.Pro243=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044876G>C	CA478095331	KCNA5	c.729G>C (p.Pro243=)	gnomAD v4
12	g.5044876G=	CA2013430931	KCNA5	c.729G= (p.Pro243=)
12	g.5044876G>T	CA478095332	KCNA5	c.729G>T (p.Pro243=)
12	g.5044877G>A	CA383465041	KCNA5	c.730G>A (p.Glu244Lys)
12	g.5044877G>C	CA383465042	KCNA5	c.730G>C (p.Glu244Gln)	dbSNP gnomAD v4
12	g.5044877G=	CA2013430932	KCNA5	c.730G= (p.Glu244=)
12	g.5044877G>T	CA383465043	KCNA5	c.730G>T (p.Glu244Ter)
12	g.5044878A>C	CA383465044	KCNA5	c.731A>C (p.Glu244Ala)
12	g.5044878A>G	CA383465045	KCNA5	c.731A>G (p.Glu244Gly)
12	g.5044878A>T	CA383465046	KCNA5	c.731A>T (p.Glu244Val)
12	g.5044879G>A	CA478095334	KCNA5	c.732G>A (p.Glu244=)
12	g.5044879G>C	CA383465047	KCNA5	c.732G>C (p.Glu244Asp)
12	g.5044879G>T	CA383465048	KCNA5	c.732G>T (p.Glu244Asp)
12	g.5044880A=	CA2013430933	KCNA5	c.733A= (p.Ser245=)
12	g.5044880A>C	CA383465049	KCNA5	c.733A>C (p.Ser245Arg)
12	g.5044880A>G	CA6399706	KCNA5	c.733A>G (p.Ser245Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044880A>T	CA383465050	KCNA5	c.733A>T (p.Ser245Cys)
12	g.5044881G>A	CA383465051	KCNA5	c.734G>A (p.Ser245Asn)
12	g.5044881G>C	CA383465052	KCNA5	c.734G>C (p.Ser245Thr)
12	g.5044881G>T	CA383465053	KCNA5	c.734G>T (p.Ser245Ile)
12	g.5044882C>A	CA383465054	KCNA5	c.735C>A (p.Ser245Arg)
12	g.5044882C=	CA2013430934	KCNA5	c.735C= (p.Ser245=)
12	g.5044882C>G	CA383465055	KCNA5	c.735C>G (p.Ser245Arg)
12	g.5044882C>T	CA6399707	KCNA5	c.735C>T (p.Ser245=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044883T>A	CA383465056	KCNA5	c.736T>A (p.Ser246Thr)
12	g.5044883T>C	CA383465057	KCNA5	c.736T>C (p.Ser246Pro)	COSMIC
12	g.5044883T>G	CA383465058	KCNA5	c.736T>G (p.Ser246Ala)
12	g.5044884C>A	CA383465060	KCNA5	c.737C>A (p.Ser246Tyr)
12	g.5044884C>G	CA383465061	KCNA5	c.737C>G (p.Ser246Cys)
12	g.5044884C>T	CA383465059	KCNA5	c.737C>T (p.Ser246Phe)
12	g.5044885T>A	CA478095342	KCNA5	c.738T>A (p.Ser246=)
12	g.5044885T>C	CA478095343	KCNA5	c.738T>C (p.Ser246=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044885T>G	CA478095341	KCNA5	c.738T>G (p.Ser246=)
12	g.5044885T=	CA2013430935	KCNA5	c.738T= (p.Ser246=)
12	g.5044886G>A	CA383465063	KCNA5	c.739G>A (p.Gly247Arg)	dbSNP
12	g.5044886G>C	CA383465062	KCNA5	c.739G>C (p.Gly247Arg)	gnomAD v4
12	g.5044886G=	CA2013430936	KCNA5	c.739G= (p.Gly247=)
12	g.5044886G>T	CA383465064	KCNA5	c.739G>T (p.Gly247Trp)
12	g.5044887G>A	CA383465065	KCNA5	c.740G>A (p.Gly247Glu)	dbSNP gnomAD v4
12	g.5044887G>C	CA383465066	KCNA5	c.740G>C (p.Gly247Ala)
12	g.5044887G=	CA2013430937	KCNA5	c.740G= (p.Gly247=)
12	g.5044887G>T	CA383465067	KCNA5	c.740G>T (p.Gly247Val)	COSMIC
12	g.5044888G>A	CA478095347	KCNA5	c.741G>A (p.Gly247=)
12	g.5044888G>C	CA478095348	KCNA5	c.741G>C (p.Gly247=)	ClinVar dbSNP gnomAD v4
12	g.5044888G>T	CA478095349	KCNA5	c.741G>T (p.Gly247=)
12	g.5044889T>A	CA383465068	KCNA5	c.742T>A (p.Ser248Thr)
12	g.5044889T>C	CA231867731	KCNA5	c.742T>C (p.Ser248Pro)	dbSNP
12	g.5044889T>G	CA383465069	KCNA5	c.742T>G (p.Ser248Ala)
12	g.5044889T=	CA2013430938	KCNA5	c.742T= (p.Ser248=)
12	g.5044890C>A	CA383465070	KCNA5	c.743C>A (p.Ser248Tyr)
12	g.5044890C=	CA2013430940	KCNA5	c.743C= (p.Ser248=)
12	g.5044890C>G	CA383465071	KCNA5	c.743C>G (p.Ser248Cys)	gnomAD v4
12	g.5044890C>T	CA383465072	KCNA5	c.743C>T (p.Ser248Phe)	dbSNP COSMIC
12	g.5044890_5044892delinsCCG	CA2013430939	KCNA5	c.743_745delinsCCG (p.Ser248=)
12	g.5044891C>A	CA478095353	KCNA5	c.744C>A (p.Ser248=)
12	g.5044891C=	CA2013430941	KCNA5	c.744C= (p.Ser248=)
12	g.5044891C>G	CA231867737	KCNA5	c.744C>G (p.Ser248=)	ClinVar dbSNP COSMIC
12	g.5044891C>T	CA478095352	KCNA5	c.744C>T (p.Ser248=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044895_5044896del	CA6399708	KCNA5	c.748_749del (p.Arg250GlyfsTer24)	dbSNP ExAC gnomAD v2
12	g.5044892G>A	CA383465073	KCNA5	c.745G>A (p.Ala249Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5044892G>C	CA383465074	KCNA5	c.745G>C (p.Ala249Pro)	gnomAD v4
12	g.5044892G=	CA2013430942	KCNA5	c.745G= (p.Ala249=)
12	g.5044892G>T	CA383465075	KCNA5	c.745G>T (p.Ala249Ser)	gnomAD v4
12	g.5044893C>A	CA383465076	KCNA5	c.746C>A (p.Ala249Glu)
12	g.5044893C>G	CA383465078	KCNA5	c.746C>G (p.Ala249Gly)
12	g.5044893C>T	CA383465077	KCNA5	c.746C>T (p.Ala249Val)	gnomAD v4
12	g.5044894G>A	CA478095354	KCNA5	c.747G>A (p.Ala249=)	COSMIC
12	g.5044894G>C	CA478095355	KCNA5	c.747G>C (p.Ala249=)	gnomAD v4
12	g.5044894G>T	CA478095356	KCNA5	c.747G>T (p.Ala249=)	COSMIC
12	g.5044895C>A	CA231867766	KCNA5	c.748C>A (p.Arg250=)	dbSNP
12	g.5044895C=	CA2013430943	KCNA5	c.748C= (p.Arg250=)
12	g.5044895C>G	CA383465079	KCNA5	c.748C>G (p.Arg250Gly)	gnomAD v4
12	g.5044895C>T	CA383465080	KCNA5	c.748C>T (p.Arg250Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044896G>A	CA383465081	KCNA5	c.749G>A (p.Arg250Gln)	ClinVar gnomAD v4 COSMIC
12	g.5044896G>C	CA231867775	KCNA5	c.749G>C (p.Arg250Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.5044896G=	CA2013430944	KCNA5	c.749G= (p.Arg250=)
12	g.5044896G>T	CA383465082	KCNA5	c.749G>T (p.Arg250Leu)	gnomAD v4

Number of alleles fetched