Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045843_5045845delinsGCT	CA2013431421	KCNA5	c.1696_1698delinsGCT (p.Ala566=)
12	g.5045844C>A	CA383467036	KCNA5	c.1697C>A (p.Ala566Asp)
12	g.5045844C>G	CA383467037	KCNA5	c.1697C>G (p.Ala566Gly)
12	g.5045844C>T	CA383467038	KCNA5	c.1697C>T (p.Ala566Val)
12	g.5045844_5045845del	CA6399924	KCNA5	c.1697_1698del (p.Ala566GlyfsTer21)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045845T>A	CA478095859	KCNA5	c.1698T>A (p.Ala566=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045845T>C	CA478095860	KCNA5	c.1698T>C (p.Ala566=)
12	g.5045845T>G	CA478095861	KCNA5	c.1698T>G (p.Ala566=)	dbSNP
12	g.5045845T=	CA2013431422	KCNA5	c.1698T= (p.Ala566=)
12	g.5045845_5045846delinsTG	CA2013431423	KCNA5	c.1698_1699delinsTG (p.Ala566=)
12	g.5045846G>A	CA383467039	KCNA5	c.1699G>A (p.Gly567Arg)	gnomAD v4
12	g.5045846G>C	CA6399925	KCNA5	c.1699G>C (p.Gly567Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045846G=	CA2013431425	KCNA5	c.1699G= (p.Gly567=)
12	g.5045846G>T	CA383467040	KCNA5	c.1699G>T (p.Gly567Trp)
12	g.5045851dup	CA2013431424	KCNA5	c.1704dup (p.Thr569AspfsTer19)	ClinVar dbSNP gnomAD v4
12	g.5045851del	CA919011889	KCNA5	c.1704del (p.Thr569ProfsTer15)	dbSNP gnomAD v4
12	g.5045847G>A	CA383467041	KCNA5	c.1700G>A (p.Gly567Glu)	ClinVar dbSNP gnomAD v4
12	g.5045847G>C	CA383467042	KCNA5	c.1700G>C (p.Gly567Ala)
12	g.5045847G=	CA2013431426	KCNA5	c.1700G= (p.Gly567=)
12	g.5045847G>T	CA383467043	KCNA5	c.1700G>T (p.Gly567Val)
12	g.5045848G>A	CA6399926	KCNA5	c.1701G>A (p.Gly567=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045848G>C	CA478095863	KCNA5	c.1701G>C (p.Gly567=)
12	g.5045848G=	CA2013431427	KCNA5	c.1701G= (p.Gly567=)
12	g.5045848G>T	CA478095864	KCNA5	c.1701G>T (p.Gly567=)	COSMIC
12	g.5045849G>A	CA383467045	KCNA5	c.1702G>A (p.Gly568Arg)	dbSNP gnomAD v4
12	g.5045849G>C	CA383467046	KCNA5	c.1702G>C (p.Gly568Arg)
12	g.5045849G=	CA2013431428	KCNA5	c.1702G= (p.Gly568=)
12	g.5045849G>T	CA383467044	KCNA5	c.1702G>T (p.Gly568Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045850G>A	CA383467047	KCNA5	c.1703G>A (p.Gly568Glu)	gnomAD v4
12	g.5045850G>C	CA6399928	KCNA5	c.1703G>C (p.Gly568Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045850G=	CA2013431429	KCNA5	c.1703G= (p.Gly568=)
12	g.5045850G>T	CA6399927	KCNA5	c.1703G>T (p.Gly568Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045851G>A	CA478095866	KCNA5	c.1704G>A (p.Gly568=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045851G>C	CA478095867	KCNA5	c.1704G>C (p.Gly568=)
12	g.5045851G=	CA2013431430	KCNA5	c.1704G= (p.Gly568=)
12	g.5045851G>T	CA478095868	KCNA5	c.1704G>T (p.Gly568=)	dbSNP gnomAD v4
12	g.5045852A>C	CA383467048	KCNA5	c.1705A>C (p.Thr569Pro)
12	g.5045852A>G	CA383467049	KCNA5	c.1705A>G (p.Thr569Ala)
12	g.5045852A>T	CA383467050	KCNA5	c.1705A>T (p.Thr569Ser)	gnomAD v4
12	g.5045853C>A	CA383467051	KCNA5	c.1706C>A (p.Thr569Asn)
12	g.5045853C=	CA2013431431	KCNA5	c.1706C= (p.Thr569=)
12	g.5045853C>G	CA383467052	KCNA5	c.1706C>G (p.Thr569Ser)
12	g.5045853C>T	CA383467053	KCNA5	c.1706C>T (p.Thr569Ile)	dbSNP
12	g.5045854C>A	CA231869311	KCNA5	c.1707C>A (p.Thr569=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045854C=	CA2013431432	KCNA5	c.1707C= (p.Thr569=)
12	g.5045854C>G	CA478095870	KCNA5	c.1707C>G (p.Thr569=)
12	g.5045854C>T	CA6399929	KCNA5	c.1707C>T (p.Thr569=)	dbSNP ExAC
12	g.5045855C>A	CA383467054	KCNA5	c.1708C>A (p.Leu570Met)
12	g.5045855C=	CA2013431433	KCNA5	c.1708C= (p.Leu570=)
12	g.5045855C>G	CA6399930	KCNA5	c.1708C>G (p.Leu570Val)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045855C>T	CA478095871	KCNA5	c.1708C>T (p.Leu570=)
12	g.5045856T>A	CA383467057	KCNA5	c.1709T>A (p.Leu570Gln)
12	g.5045856T>C	CA383467056	KCNA5	c.1709T>C (p.Leu570Pro)	COSMIC
12	g.5045856T>G	CA383467055	KCNA5	c.1709T>G (p.Leu570Arg)
12	g.5045857G>A	CA478095875	KCNA5	c.1710G>A (p.Leu570=)
12	g.5045857G>C	CA478095876	KCNA5	c.1710G>C (p.Leu570=)
12	g.5045857G>T	CA478095877	KCNA5	c.1710G>T (p.Leu570=)
12	g.5045858G>A	CA383467058	KCNA5	c.1711G>A (p.Glu571Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045858G>C	CA383467059	KCNA5	c.1711G>C (p.Glu571Gln)	dbSNP
12	g.5045858G=	CA2013431434	KCNA5	c.1711G= (p.Glu571=)
12	g.5045858G>T	CA383467060	KCNA5	c.1711G>T (p.Glu571Ter)
12	g.5045859A>C	CA383467061	KCNA5	c.1712A>C (p.Glu571Ala)
12	g.5045859A>G	CA383467062	KCNA5	c.1712A>G (p.Glu571Gly)
12	g.5045859A>T	CA383467063	KCNA5	c.1712A>T (p.Glu571Val)
12	g.5045860G>A	CA6399931	KCNA5	c.1713G>A (p.Glu571=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045860G>C	CA383467064	KCNA5	c.1713G>C (p.Glu571Asp)
12	g.5045860G=	CA2013431435	KCNA5	c.1713G= (p.Glu571=)
12	g.5045860G>T	CA383467065	KCNA5	c.1713G>T (p.Glu571Asp)
12	g.5045861A>C	CA383467066	KCNA5	c.1714A>C (p.Asn572His)
12	g.5045861A>G	CA383467067	KCNA5	c.1714A>G (p.Asn572Asp)
12	g.5045861A>T	CA383467068	KCNA5	c.1714A>T (p.Asn572Tyr)
12	g.5045862A>C	CA383467069	KCNA5	c.1715A>C (p.Asn572Thr)
12	g.5045862A>G	CA383467071	KCNA5	c.1715A>G (p.Asn572Ser)
12	g.5045862A>T	CA383467070	KCNA5	c.1715A>T (p.Asn572Ile)
12	g.5045863T>A	CA383467072	KCNA5	c.1716T>A (p.Asn572Lys)
12	g.5045863T>C	CA478095878	KCNA5	c.1716T>C (p.Asn572=)
12	g.5045863T>G	CA383467073	KCNA5	c.1716T>G (p.Asn572Lys)	dbSNP gnomAD v3 gnomAD v4
12	g.5045863T=	CA2013431436	KCNA5	c.1716T= (p.Asn572=)
12	g.5045864G>A	CA6399932	KCNA5	c.1717G>A (p.Ala573Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045864G>C	CA383467075	KCNA5	c.1717G>C (p.Ala573Pro)
12	g.5045864G=	CA2013431437	KCNA5	c.1717G= (p.Ala573=)
12	g.5045864G>T	CA383467074	KCNA5	c.1717G>T (p.Ala573Ser)
12	g.5045865C>A	CA383467076	KCNA5	c.1718C>A (p.Ala573Glu)	gnomAD v4
12	g.5045865C>G	CA383467077	KCNA5	c.1718C>G (p.Ala573Gly)
12	g.5045865C>T	CA383467078	KCNA5	c.1718C>T (p.Ala573Val)
12	g.5045866A>C	CA478095881	KCNA5	c.1719A>C (p.Ala573=)
12	g.5045866A>G	CA478095882	KCNA5	c.1719A>G (p.Ala573=)
12	g.5045866A>T	CA478095884	KCNA5	c.1719A>T (p.Ala573=)
12	g.5045867G>A	CA383467079	KCNA5	c.1720G>A (p.Asp574Asn)
12	g.5045867G>C	CA383467080	KCNA5	c.1720G>C (p.Asp574His)
12	g.5045867G>T	CA383467081	KCNA5	c.1720G>T (p.Asp574Tyr)
12	g.5045868A=	CA2013431438	KCNA5	c.1721A= (p.Asp574=)
12	g.5045868A>C	CA383467082	KCNA5	c.1721A>C (p.Asp574Ala)
12	g.5045868A>G	CA383467083	KCNA5	c.1721A>G (p.Asp574Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.5045868A>T	CA6399933	KCNA5	c.1721A>T (p.Asp574Val)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045869C>A	CA383467084	KCNA5	c.1722C>A (p.Asp574Glu)
12	g.5045869C>G	CA383467085	KCNA5	c.1722C>G (p.Asp574Glu)
12	g.5045869C>T	CA478095885	KCNA5	c.1722C>T (p.Asp574=)
12	g.5045870A>C	CA383467088	KCNA5	c.1723A>C (p.Ser575Arg)
12	g.5045870A>G	CA383467086	KCNA5	c.1723A>G (p.Ser575Gly)
12	g.5045870A>T	CA383467087	KCNA5	c.1723A>T (p.Ser575Cys)
12	g.5045871G>A	CA231869329	KCNA5	c.1724G>A (p.Ser575Asn)	dbSNP gnomAD v4
12	g.5045871G>C	CA231869334	KCNA5	c.1724G>C (p.Ser575Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5045871G=	CA2013431439	KCNA5	c.1724G= (p.Ser575=)
12	g.5045871G>T	CA383467089	KCNA5	c.1724G>T (p.Ser575Ile)
12	g.5045872T>A	CA383467090	KCNA5	c.1725T>A (p.Ser575Arg)
12	g.5045872T>C	CA478095886	KCNA5	c.1725T>C (p.Ser575=)	gnomAD v4
12	g.5045872T>G	CA383467091	KCNA5	c.1725T>G (p.Ser575Arg)	gnomAD v4
12	g.5045872T=	CA2013431440	KCNA5	c.1725T= (p.Ser575=)
12	g.5045873G>A	CA383467092	KCNA5	c.1726G>A (p.Ala576Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045873G>C	CA383467093	KCNA5	c.1726G>C (p.Ala576Pro)
12	g.5045873G=	CA2013431441	KCNA5	c.1726G= (p.Ala576=)
12	g.5045873G>T	CA383467094	KCNA5	c.1726G>T (p.Ala576Ser)
12	g.5045873dup	CA944256541	KCNA5	c.1726dup (p.Ala576GlyfsTer12)	dbSNP gnomAD v3 gnomAD v4
12	g.5045874C>A	CA383467095	KCNA5	c.1727C>A (p.Ala576Asp)
12	g.5045874C=	CA2013431442	KCNA5	c.1727C= (p.Ala576=)
12	g.5045874C>G	CA383467096	KCNA5	c.1727C>G (p.Ala576Gly)
12	g.5045874C>T	CA123126	KCNA5	c.1727C>T (p.Ala576Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045875C>A	CA478095887	KCNA5	c.1728C>A (p.Ala576=)
12	g.5045875C>G	CA478095888	KCNA5	c.1728C>G (p.Ala576=)
12	g.5045875C>T	CA478095889	KCNA5	c.1728C>T (p.Ala576=)	gnomAD v4
12	g.5045876C>A	CA478095890	KCNA5	c.1729C>A (p.Arg577=)
12	g.5045876C=	CA2013431443	KCNA5	c.1729C= (p.Arg577=)
12	g.5045876C>G	CA383467097	KCNA5	c.1729C>G (p.Arg577Gly)
12	g.5045876C>T	CA6399934	KCNA5	c.1729C>T (p.Arg577Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045877G>A	CA6399935	KCNA5	c.1730G>A (p.Arg577Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045877G>C	CA383467098	KCNA5	c.1730G>C (p.Arg577Pro)
12	g.5045877G=	CA2013431444	KCNA5	c.1730G= (p.Arg577=)
12	g.5045877G>T	CA383467099	KCNA5	c.1730G>T (p.Arg577Leu)	gnomAD v4
12	g.5045878A>C	CA478095891	KCNA5	c.1731A>C (p.Arg577=)
12	g.5045878A>G	CA478095892	KCNA5	c.1731A>G (p.Arg577=)
12	g.5045878A>T	CA478095893	KCNA5	c.1731A>T (p.Arg577=)
12	g.5045879A>C	CA478095894	KCNA5	c.1732A>C (p.Arg578=)
12	g.5045879A>G	CA383467100	KCNA5	c.1732A>G (p.Arg578Gly)
12	g.5045879A>T	CA383467101	KCNA5	c.1732A>T (p.Arg578Trp)
12	g.5045880G>A	CA199951	KCNA5	c.1733G>A (p.Arg578Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045880G>C	CA383467102	KCNA5	c.1733G>C (p.Arg578Thr)
12	g.5045880G=	CA2013431445	KCNA5	c.1733G= (p.Arg578=)
12	g.5045880G>T	CA383467103	KCNA5	c.1733G>T (p.Arg578Met)
12	g.5045881G>A	CA478095895	KCNA5	c.1734G>A (p.Arg578=)	gnomAD v4
12	g.5045881G>C	CA383467104	KCNA5	c.1734G>C (p.Arg578Ser)
12	g.5045881G>T	CA383467105	KCNA5	c.1734G>T (p.Arg578Ser)
12	g.5045882G>A	CA6399936	KCNA5	c.1735G>A (p.Gly579Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045882G>C	CA383467106	KCNA5	c.1735G>C (p.Gly579Arg)
12	g.5045882G=	CA2013431446	KCNA5	c.1735G= (p.Gly579=)
12	g.5045882G>T	CA383467107	KCNA5	c.1735G>T (p.Gly579Cys)
12	g.5045883G>A	CA6399937	KCNA5	c.1736G>A (p.Gly579Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045883G>C	CA383467108	KCNA5	c.1736G>C (p.Gly579Ala)
12	g.5045883G=	CA2013431447	KCNA5	c.1736G= (p.Gly579=)
12	g.5045883G>T	CA6399938	KCNA5	c.1736G>T (p.Gly579Val)	dbSNP ExAC gnomAD v2
12	g.5045884C>A	CA478095896	KCNA5	c.1737C>A (p.Gly579=)	gnomAD v4
12	g.5045884C>G	CA478095897	KCNA5	c.1737C>G (p.Gly579=)
12	g.5045884C>T	CA478095898	KCNA5	c.1737C>T (p.Gly579=)
12	g.5045885A>C	CA383467109	KCNA5	c.1738A>C (p.Ser580Arg)
12	g.5045885A>G	CA383467110	KCNA5	c.1738A>G (p.Ser580Gly)
12	g.5045885A>T	CA383467111	KCNA5	c.1738A>T (p.Ser580Cys)
12	g.5045886G>A	CA383467112	KCNA5	c.1739G>A (p.Ser580Asn)
12	g.5045886G>C	CA383467113	KCNA5	c.1739G>C (p.Ser580Thr)
12	g.5045886G>T	CA383467114	KCNA5	c.1739G>T (p.Ser580Ile)
12	g.5045887C>A	CA383467115	KCNA5	c.1740C>A (p.Ser580Arg)
12	g.5045887C=	CA2013431448	KCNA5	c.1740C= (p.Ser580=)
12	g.5045887C>G	CA383467116	KCNA5	c.1740C>G (p.Ser580Arg)
12	g.5045887C>T	CA6399939	KCNA5	c.1740C>T (p.Ser580=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045888T>A	CA383467117	KCNA5	c.1741T>A (p.Cys581Ser)
12	g.5045888T>C	CA383467118	KCNA5	c.1741T>C (p.Cys581Arg)
12	g.5045888T>G	CA383467119	KCNA5	c.1741T>G (p.Cys581Gly)
12	g.5045889G>A	CA383467122	KCNA5	c.1742G>A (p.Cys581Tyr)	dbSNP gnomAD v3 gnomAD v4
12	g.5045889G>C	CA383467121	KCNA5	c.1742G>C (p.Cys581Ser)
12	g.5045889G=	CA2013431449	KCNA5	c.1742G= (p.Cys581=)
12	g.5045889G>T	CA383467120	KCNA5	c.1742G>T (p.Cys581Phe)
12	g.5045890C>A	CA383467123	KCNA5	c.1743C>A (p.Cys581Ter)
12	g.5045890C=	CA2013431450	KCNA5	c.1743C= (p.Cys581=)
12	g.5045890C>G	CA383467124	KCNA5	c.1743C>G (p.Cys581Trp)
12	g.5045890C>T	CA478095904	KCNA5	c.1743C>T (p.Cys581=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045894del	CA2617209928	KCNA5	c.1747del (p.Leu583Ter)	gnomAD v4
12	g.5045891C>A	CA6399940	KCNA5	c.1744C>A (p.Pro582Thr)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12	g.5045891C=	CA2013431451	KCNA5	c.1744C= (p.Pro582=)
12	g.5045891C>G	CA383467125	KCNA5	c.1744C>G (p.Pro582Ala)	gnomAD v4
12	g.5045891C>T	CA383467126	KCNA5	c.1744C>T (p.Pro582Ser)	gnomAD v4
12	g.5045892C>A	CA383467127	KCNA5	c.1745C>A (p.Pro582His)
12	g.5045892C=	CA2013431452	KCNA5	c.1745C= (p.Pro582=)
12	g.5045892C>G	CA383467128	KCNA5	c.1745C>G (p.Pro582Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045892C>T	CA383467129	KCNA5	c.1745C>T (p.Pro582Leu)	COSMIC
12	g.5045893C>A	CA478095905	KCNA5	c.1746C>A (p.Pro582=)	ClinVar
12	g.5045893C>G	CA478095906	KCNA5	c.1746C>G (p.Pro582=)	gnomAD v4
12	g.5045893C>T	CA478095907	KCNA5	c.1746C>T (p.Pro582=)	ClinVar gnomAD v4
12	g.5045894C>A	CA383467130	KCNA5	c.1747C>A (p.Leu583Ile)	gnomAD v4
12	g.5045894C>G	CA383467131	KCNA5	c.1747C>G (p.Leu583Val)
12	g.5045894C>T	CA478095908	KCNA5	c.1747C>T (p.Leu583=)
12	g.5045895T>A	CA383467132	KCNA5	c.1748T>A (p.Leu583Gln)
12	g.5045895T>C	CA383467133	KCNA5	c.1748T>C (p.Leu583Pro)
12	g.5045895T>G	CA383467134	KCNA5	c.1748T>G (p.Leu583Arg)
12	g.5045896A=	CA2013431453	KCNA5	c.1749A= (p.Leu583=)
12	g.5045896A>C	CA478095914	KCNA5	c.1749A>C (p.Leu583=)
12	g.5045896A>G	CA478095916	KCNA5	c.1749A>G (p.Leu583=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045896A>T	CA478095917	KCNA5	c.1749A>T (p.Leu583=)	dbSNP
12	g.5045897G>A	CA231869366	KCNA5	c.1750G>A (p.Glu584Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045897G>C	CA6399941	KCNA5	c.1750G>C (p.Glu584Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045897G=	CA2013431454	KCNA5	c.1750G= (p.Glu584=)
12	g.5045897G>T	CA383467135	KCNA5	c.1750G>T (p.Glu584Ter)	gnomAD v4
12	g.5045898A>C	CA383467136	KCNA5	c.1751A>C (p.Glu584Ala)
12	g.5045898A>G	CA383467137	KCNA5	c.1751A>G (p.Glu584Gly)
12	g.5045898A>T	CA383467138	KCNA5	c.1751A>T (p.Glu584Val)
12	g.5045899G>A	CA478095918	KCNA5	c.1752G>A (p.Glu584=)	COSMIC
12	g.5045899G>C	CA383467139	KCNA5	c.1752G>C (p.Glu584Asp)
12	g.5045899G>T	CA383467140	KCNA5	c.1752G>T (p.Glu584Asp)
12	g.5045900A>C	CA383467141	KCNA5	c.1753A>C (p.Lys585Gln)
12	g.5045900A>G	CA383467142	KCNA5	c.1753A>G (p.Lys585Glu)
12	g.5045900A>T	CA383467143	KCNA5	c.1753A>T (p.Lys585Ter)
12	g.5045901A>C	CA383467144	KCNA5	c.1754A>C (p.Lys585Thr)
12	g.5045901A>G	CA383467145	KCNA5	c.1754A>G (p.Lys585Arg)	COSMIC
12	g.5045901A>T	CA383467146	KCNA5	c.1754A>T (p.Lys585Met)
12	g.5045902G>A	CA478095925	KCNA5	c.1755G>A (p.Lys585=)	gnomAD v4
12	g.5045902G>C	CA383467147	KCNA5	c.1755G>C (p.Lys585Asn)	ClinVar gnomAD v4
12	g.5045902G>T	CA383467148	KCNA5	c.1755G>T (p.Lys585Asn)	gnomAD v4
12	g.5045903T>A	CA383467150	KCNA5	c.1756T>A (p.Cys586Ser)
12	g.5045903T>C	CA383467151	KCNA5	c.1756T>C (p.Cys586Arg)
12	g.5045903T>G	CA383467149	KCNA5	c.1756T>G (p.Cys586Gly)	ClinVar dbSNP gnomAD v4
12	g.5045903T=	CA2013431455	KCNA5	c.1756T= (p.Cys586=)
12	g.5045904G>A	CA383467152	KCNA5	c.1757G>A (p.Cys586Tyr)
12	g.5045904G>C	CA383467153	KCNA5	c.1757G>C (p.Cys586Ser)
12	g.5045904G>T	CA383467154	KCNA5	c.1757G>T (p.Cys586Phe)
12	g.5045905T>A	CA383467155	KCNA5	c.1758T>A (p.Cys586Ter)
12	g.5045905T>C	CA478095926	KCNA5	c.1758T>C (p.Cys586=)
12	g.5045905T>G	CA383467156	KCNA5	c.1758T>G (p.Cys586Trp)
12	g.5045906A>C	CA383467157	KCNA5	c.1759A>C (p.Asn587His)
12	g.5045906A>G	CA383467158	KCNA5	c.1759A>G (p.Asn587Asp)
12	g.5045906A>T	CA383467159	KCNA5	c.1759A>T (p.Asn587Tyr)
12	g.5045907A>C	CA383467160	KCNA5	c.1760A>C (p.Asn587Thr)
12	g.5045907A>G	CA383467161	KCNA5	c.1760A>G (p.Asn587Ser)
12	g.5045907A>T	CA383467162	KCNA5	c.1760A>T (p.Asn587Ile)
12	g.5045908C>A	CA383467163	KCNA5	c.1761C>A (p.Asn587Lys)	gnomAD v4
12	g.5045908C=	CA2013431456	KCNA5	c.1761C= (p.Asn587=)
12	g.5045908C>G	CA383467164	KCNA5	c.1761C>G (p.Asn587Lys)	dbSNP
12	g.5045908C>T	CA478095930	KCNA5	c.1761C>T (p.Asn587=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045909G>A	CA383467165	KCNA5	c.1762G>A (p.Val588Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045909G>C	CA6399942	KCNA5	c.1762G>C (p.Val588Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045909G=	CA2013431457	KCNA5	c.1762G= (p.Val588=)
12	g.5045909G>T	CA383467166	KCNA5	c.1762G>T (p.Val588Phe)
12	g.5045910T>A	CA383467167	KCNA5	c.1763T>A (p.Val588Asp)	gnomAD v4
12	g.5045910T>C	CA383467168	KCNA5	c.1763T>C (p.Val588Ala)
12	g.5045910T>G	CA383467169	KCNA5	c.1763T>G (p.Val588Gly)
12	g.5045911C>A	CA478095936	KCNA5	c.1764C>A (p.Val588=)
12	g.5045911C=	CA2013431458	KCNA5	c.1764C= (p.Val588=)
12	g.5045911C>G	CA478095937	KCNA5	c.1764C>G (p.Val588=)	dbSNP COSMIC
12	g.5045911C>T	CA478095938	KCNA5	c.1764C>T (p.Val588=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045912A>C	CA383467170	KCNA5	c.1765A>C (p.Lys589Gln)
12	g.5045912A>G	CA383467171	KCNA5	c.1765A>G (p.Lys589Glu)
12	g.5045912A>T	CA383467172	KCNA5	c.1765A>T (p.Lys589Ter)
12	g.5045913A>C	CA383467173	KCNA5	c.1766A>C (p.Lys589Thr)
12	g.5045913A>G	CA383467174	KCNA5	c.1766A>G (p.Lys589Arg)
12	g.5045913A>T	CA383467175	KCNA5	c.1766A>T (p.Lys589Met)
12	g.5045914G>A	CA478095941	KCNA5	c.1767G>A (p.Lys589=)
12	g.5045914G>C	CA383467176	KCNA5	c.1767G>C (p.Lys589Asn)
12	g.5045914G>T	CA383467177	KCNA5	c.1767G>T (p.Lys589Asn)
12	g.5045915G>A	CA383467179	KCNA5	c.1768G>A (p.Ala590Thr)
12	g.5045915G>C	CA383467180	KCNA5	c.1768G>C (p.Ala590Pro)
12	g.5045915G>T	CA383467178	KCNA5	c.1768G>T (p.Ala590Ser)
12	g.5045916C>A	CA383467182	KCNA5	c.1769C>A (p.Ala590Asp)
12	g.5045916C>G	CA383467181	KCNA5	c.1769C>G (p.Ala590Gly)
12	g.5045916C>T	CA383467183	KCNA5	c.1769C>T (p.Ala590Val)	ClinVar gnomAD v4
12	g.5045917C>A	CA478095944	KCNA5	c.1770C>A (p.Ala590=)
12	g.5045917C>G	CA478095943	KCNA5	c.1770C>G (p.Ala590=)
12	g.5045917C>T	CA478095945	KCNA5	c.1770C>T (p.Ala590=)
12	g.5045918A>C	CA383467184	KCNA5	c.1771A>C (p.Lys591Gln)
12	g.5045918A>G	CA383467186	KCNA5	c.1771A>G (p.Lys591Glu)
12	g.5045918A>T	CA383467185	KCNA5	c.1771A>T (p.Lys591Ter)
12	g.5045919A>C	CA383467187	KCNA5	c.1772A>C (p.Lys591Thr)
12	g.5045919A>G	CA383467188	KCNA5	c.1772A>G (p.Lys591Arg)
12	g.5045919A>T	CA383467189	KCNA5	c.1772A>T (p.Lys591Met)
12	g.5045920G>A	CA478095950	KCNA5	c.1773G>A (p.Lys591=)
12	g.5045920G>C	CA383467190	KCNA5	c.1773G>C (p.Lys591Asn)	gnomAD v4
12	g.5045920G>T	CA383467191	KCNA5	c.1773G>T (p.Lys591Asn)	COSMIC
12	g.5045921A>C	CA383467192	KCNA5	c.1774A>C (p.Ser592Arg)
12	g.5045921A>G	CA383467193	KCNA5	c.1774A>G (p.Ser592Gly)	gnomAD v4
12	g.5045921A>T	CA383467194	KCNA5	c.1774A>T (p.Ser592Cys)
12	g.5045922G>A	CA6399943	KCNA5	c.1775G>A (p.Ser592Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045922G>C	CA383467195	KCNA5	c.1775G>C (p.Ser592Thr)
12	g.5045922G=	CA2013431459	KCNA5	c.1775G= (p.Ser592=)
12	g.5045922G>T	CA383467196	KCNA5	c.1775G>T (p.Ser592Ile)
12	g.5045923C>A	CA383467198	KCNA5	c.1776C>A (p.Ser592Arg)
12	g.5045923C=	CA2013431460	KCNA5	c.1776C= (p.Ser592=)
12	g.5045923C>G	CA383467197	KCNA5	c.1776C>G (p.Ser592Arg)	gnomAD v4
12	g.5045923C>T	CA6399944	KCNA5	c.1776C>T (p.Ser592=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045924A>C	CA383467199	KCNA5	c.1777A>C (p.Asn593His)
12	g.5045924A>G	CA383467200	KCNA5	c.1777A>G (p.Asn593Asp)	gnomAD v4
12	g.5045924A>T	CA383467201	KCNA5	c.1777A>T (p.Asn593Tyr)
12	g.5045925A>C	CA383467202	KCNA5	c.1778A>C (p.Asn593Thr)
12	g.5045925A>G	CA383467203	KCNA5	c.1778A>G (p.Asn593Ser)	gnomAD v4
12	g.5045925A>T	CA383467204	KCNA5	c.1778A>T (p.Asn593Ile)
12	g.5045926C>A	CA6399945	KCNA5	c.1779C>A (p.Asn593Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045926C=	CA2013431461	KCNA5	c.1779C= (p.Asn593=)
12	g.5045926C>G	CA383467205	KCNA5	c.1779C>G (p.Asn593Lys)	dbSNP gnomAD v4
12	g.5045926C>T	CA6399946	KCNA5	c.1779C>T (p.Asn593=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045927G>A	CA6399948	KCNA5	c.1780G>A (p.Val594Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045927G>C	CA383467206	KCNA5	c.1780G>C (p.Val594Leu)	gnomAD v4
12	g.5045927G=	CA2013431462	KCNA5	c.1780G= (p.Val594=)
12	g.5045927G>T	CA6399947	KCNA5	c.1780G>T (p.Val594Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045927_5045928insCCAA	CA2013431463	KCNA5	c.1780_1781insCCAA (p.Val594AlafsTer?)	dbSNP
12	g.5045928T>A	CA383467209	KCNA5	c.1781T>A (p.Val594Glu)
12	g.5045928T>C	CA383467208	KCNA5	c.1781T>C (p.Val594Ala)
12	g.5045928T>G	CA383467207	KCNA5	c.1781T>G (p.Val594Gly)	dbSNP
12	g.5045928T=	CA2013431464	KCNA5	c.1781T= (p.Val594=)
12	g.5045929G>A	CA478095957	KCNA5	c.1782G>A (p.Val594=)	dbSNP gnomAD v2
12	g.5045929G>C	CA478095955	KCNA5	c.1782G>C (p.Val594=)
12	g.5045929G=	CA2013431465	KCNA5	c.1782G= (p.Val594=)
12	g.5045929G>T	CA478095956	KCNA5	c.1782G>T (p.Val594=)
12	g.5045930G>A	CA383467212	KCNA5	c.1783G>A (p.Asp595Asn)	gnomAD v4
12	g.5045930G>C	CA383467210	KCNA5	c.1783G>C (p.Asp595His)
12	g.5045930G>T	CA383467211	KCNA5	c.1783G>T (p.Asp595Tyr)	gnomAD v4
12	g.5045931A>C	CA383467213	KCNA5	c.1784A>C (p.Asp595Ala)
12	g.5045931A>G	CA383467214	KCNA5	c.1784A>G (p.Asp595Gly)
12	g.5045931A>T	CA383467215	KCNA5	c.1784A>T (p.Asp595Val)
12	g.5045932C>A	CA383467216	KCNA5	c.1785C>A (p.Asp595Glu)
12	g.5045932C=	CA2013431466	KCNA5	c.1785C= (p.Asp595=)
12	g.5045932C>G	CA383467217	KCNA5	c.1785C>G (p.Asp595Glu)
12	g.5045932C>T	CA478095959	KCNA5	c.1785C>T (p.Asp595=)	dbSNP gnomAD v4
12	g.5045933T>A	CA383467218	KCNA5	c.1786T>A (p.Leu596Met)
12	g.5045933T>C	CA478095961	KCNA5	c.1786T>C (p.Leu596=)
12	g.5045933T>G	CA383467219	KCNA5	c.1786T>G (p.Leu596Val)
12	g.5045934T>A	CA383467220	KCNA5	c.1787T>A (p.Leu596Ter)
12	g.5045934T>C	CA383467221	KCNA5	c.1787T>C (p.Leu596Ser)
12	g.5045934T>G	CA383467222	KCNA5	c.1787T>G (p.Leu596Trp)
12	g.5045935G>A	CA478095965	KCNA5	c.1788G>A (p.Leu596=)
12	g.5045935G>C	CA383467223	KCNA5	c.1788G>C (p.Leu596Phe)
12	g.5045935G=	CA2013431467	KCNA5	c.1788G= (p.Leu596=)
12	g.5045935G>T	CA383467224	KCNA5	c.1788G>T (p.Leu596Phe)	dbSNP gnomAD v3 gnomAD v4
12	g.5045935dup	CA2575052200	KCNA5	c.1788dup (p.Arg597AlafsTer30)
12	g.5045936C>A	CA478095967	KCNA5	c.1789C>A (p.Arg597=)	ClinVar gnomAD v4
12	g.5045936C=	CA2013431468	KCNA5	c.1789C= (p.Arg597=)
12	g.5045936C>G	CA383467225	KCNA5	c.1789C>G (p.Arg597Gly)
12	g.5045936C>T	CA6399949	KCNA5	c.1789C>T (p.Arg597Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045937G>A	CA6399950	KCNA5	c.1790G>A (p.Arg597Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045937G>C	CA383467226	KCNA5	c.1790G>C (p.Arg597Pro)	dbSNP
12	g.5045937G=	CA2013431469	KCNA5	c.1790G= (p.Arg597=)
12	g.5045937G>T	CA383467227	KCNA5	c.1790G>T (p.Arg597Leu)	dbSNP gnomAD v2
12	g.5045938G>A	CA478095968	KCNA5	c.1791G>A (p.Arg597=)
12	g.5045938G>C	CA478095969	KCNA5	c.1791G>C (p.Arg597=)
12	g.5045938G>T	CA478095970	KCNA5	c.1791G>T (p.Arg597=)
12	g.5045939A>C	CA478095972	KCNA5	c.1792A>C (p.Arg598=)
12	g.5045939A>G	CA383467228	KCNA5	c.1792A>G (p.Arg598Gly)
12	g.5045939A>T	CA383467229	KCNA5	c.1792A>T (p.Arg598Trp)
12	g.5045940G>A	CA383467230	KCNA5	c.1793G>A (p.Arg598Lys)
12	g.5045940G>C	CA383467231	KCNA5	c.1793G>C (p.Arg598Thr)
12	g.5045940G>T	CA383467232	KCNA5	c.1793G>T (p.Arg598Met)	COSMIC
12	g.5045941G>A	CA478095974	KCNA5	c.1794G>A (p.Arg598=)
12	g.5045941G>C	CA383467233	KCNA5	c.1794G>C (p.Arg598Ser)
12	g.5045941G>T	CA383467234	KCNA5	c.1794G>T (p.Arg598Ser)
12	g.5045942T>A	CA383467235	KCNA5	c.1795T>A (p.Ser599Thr)
12	g.5045942T>C	CA383467236	KCNA5	c.1795T>C (p.Ser599Pro)
12	g.5045942T>G	CA383467237	KCNA5	c.1795T>G (p.Ser599Ala)
12	g.5045943C>A	CA383467239	KCNA5	c.1796C>A (p.Ser599Tyr)
12	g.5045943C>G	CA383467240	KCNA5	c.1796C>G (p.Ser599Cys)	COSMIC
12	g.5045943C>T	CA383467238	KCNA5	c.1796C>T (p.Ser599Phe)
12	g.5045943_5045944delinsGT	CA645578791	KCNA5	c.1796_1797delinsGT (p.Ser599Cys)	COSMIC
12	g.5045944C>A	CA478095977	KCNA5	c.1797C>A (p.Ser599=)	COSMIC
12	g.5045944C=	CA2013431470	KCNA5	c.1797C= (p.Ser599=)
12	g.5045944C>G	CA6399951	KCNA5	c.1797C>G (p.Ser599=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045944C>T	CA478095978	KCNA5	c.1797C>T (p.Ser599=)

Number of alleles fetched