Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045748T>A	CA383466836	KCNA5	c.1601T>A (p.Val534Asp)
12	g.5045748T>C	CA6399901	KCNA5	c.1601T>C (p.Val534Ala)	dbSNP ExAC gnomAD v2
12	g.5045748T>G	CA383466837	KCNA5	c.1601T>G (p.Val534Gly)	COSMIC
12	g.5045748T=	CA2013431371	KCNA5	c.1601T= (p.Val534=)
12	g.5045749C>A	CA478095766	KCNA5	c.1602C>A (p.Val534=)
12	g.5045749C>G	CA478095767	KCNA5	c.1602C>G (p.Val534=)
12	g.5045749C>T	CA478095768	KCNA5	c.1602C>T (p.Val534=)	gnomAD v4
12	g.5045750C>A	CA383466838	KCNA5	c.1603C>A (p.Leu535Ile)
12	g.5045750C>G	CA383466839	KCNA5	c.1603C>G (p.Leu535Val)
12	g.5045750C>T	CA383466840	KCNA5	c.1603C>T (p.Leu535Phe)	gnomAD v4 COSMIC
12	g.5045751T>A	CA383466841	KCNA5	c.1604T>A (p.Leu535His)
12	g.5045751T>C	CA383466843	KCNA5	c.1604T>C (p.Leu535Pro)
12	g.5045751T>G	CA383466842	KCNA5	c.1604T>G (p.Leu535Arg)	COSMIC
12	g.5045752T>A	CA478095769	KCNA5	c.1605T>A (p.Leu535=)
12	g.5045752T>C	CA478095771	KCNA5	c.1605T>C (p.Leu535=)
12	g.5045752T>G	CA478095770	KCNA5	c.1605T>G (p.Leu535=)
12	g.5045753A=	CA2013431372	KCNA5	c.1606A= (p.Lys536=)
12	g.5045753A>C	CA383466844	KCNA5	c.1606A>C (p.Lys536Gln)
12	g.5045753A>G	CA231869137	KCNA5	c.1606A>G (p.Lys536Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045753A>T	CA383466845	KCNA5	c.1606A>T (p.Lys536Ter)	dbSNP gnomAD v4
12	g.5045754A>C	CA383466846	KCNA5	c.1607A>C (p.Lys536Thr)
12	g.5045754A>G	CA383466847	KCNA5	c.1607A>G (p.Lys536Arg)	gnomAD v4
12	g.5045754A>T	CA383466848	KCNA5	c.1607A>T (p.Lys536Met)
12	g.5045755G>A	CA478095772	KCNA5	c.1608G>A (p.Lys536=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045755G>C	CA383466849	KCNA5	c.1608G>C (p.Lys536Asn)
12	g.5045755G=	CA2013431373	KCNA5	c.1608G= (p.Lys536=)
12	g.5045755G>T	CA383466850	KCNA5	c.1608G>T (p.Lys536Asn)
12	g.5045756G>A	CA6399902	KCNA5	c.1609G>A (p.Glu537Lys)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045756G>C	CA383466851	KCNA5	c.1609G>C (p.Glu537Gln)
12	g.5045756G=	CA2013431374	KCNA5	c.1609G= (p.Glu537=)
12	g.5045756G>T	CA383466852	KCNA5	c.1609G>T (p.Glu537Ter)
12	g.5045757A>C	CA383466853	KCNA5	c.1610A>C (p.Glu537Ala)
12	g.5045757A>G	CA383466855	KCNA5	c.1610A>G (p.Glu537Gly)
12	g.5045757A>T	CA383466854	KCNA5	c.1610A>T (p.Glu537Val)
12	g.5045758A=	CA2013431375	KCNA5	c.1611A= (p.Glu537=)
12	g.5045758A>C	CA383466856	KCNA5	c.1611A>C (p.Glu537Asp)
12	g.5045758A>G	CA6399903	KCNA5	c.1611A>G (p.Glu537=)	dbSNP ExAC gnomAD v2
12	g.5045758A>T	CA383466857	KCNA5	c.1611A>T (p.Glu537Asp)
12	g.5045759G>A	CA383466858	KCNA5	c.1612G>A (p.Glu538Lys)	COSMIC
12	g.5045759G>C	CA231869167	KCNA5	c.1612G>C (p.Glu538Gln)	ClinVar dbSNP gnomAD v4
12	g.5045759G=	CA2013431376	KCNA5	c.1612G= (p.Glu538=)
12	g.5045759G>T	CA383466859	KCNA5	c.1612G>T (p.Glu538Ter)
12	g.5045760A>C	CA383466860	KCNA5	c.1613A>C (p.Glu538Ala)
12	g.5045760A>G	CA383466861	KCNA5	c.1613A>G (p.Glu538Gly)
12	g.5045760A>T	CA383466862	KCNA5	c.1613A>T (p.Glu538Val)
12	g.5045761G>A	CA478095777	KCNA5	c.1614G>A (p.Glu538=)	COSMIC
12	g.5045761G>C	CA383466863	KCNA5	c.1614G>C (p.Glu538Asp)
12	g.5045761G>T	CA383466864	KCNA5	c.1614G>T (p.Glu538Asp)
12	g.5045762C>A	CA383466865	KCNA5	c.1615C>A (p.Gln539Lys)
12	g.5045762C>G	CA383466866	KCNA5	c.1615C>G (p.Gln539Glu)
12	g.5045762C>T	CA383466867	KCNA5	c.1615C>T (p.Gln539Ter)	gnomAD v4
12	g.5045763A>C	CA383466870	KCNA5	c.1616A>C (p.Gln539Pro)
12	g.5045763A>G	CA383466869	KCNA5	c.1616A>G (p.Gln539Arg)
12	g.5045763A>T	CA383466868	KCNA5	c.1616A>T (p.Gln539Leu)
12	g.5045764G>A	CA6399905	KCNA5	c.1617G>A (p.Gln539=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045764G>C	CA383466871	KCNA5	c.1617G>C (p.Gln539His)
12	g.5045764G=	CA2013431377	KCNA5	c.1617G= (p.Gln539=)
12	g.5045764G>T	CA383466872	KCNA5	c.1617G>T (p.Gln539His)
12	g.5045764_5045765insTCCTTAAGGAGCCT	CA6399904	KCNA5	c.1617_1618insTCCTTAAGGAGCCT (p.Gly540SerfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045765G>A	CA383466873	KCNA5	c.1618G>A (p.Gly540Ser)	dbSNP gnomAD v2
12	g.5045765G>C	CA383466874	KCNA5	c.1618G>C (p.Gly540Arg)
12	g.5045765G=	CA2013431378	KCNA5	c.1618G= (p.Gly540=)
12	g.5045765G>T	CA383466875	KCNA5	c.1618G>T (p.Gly540Cys)	COSMIC
12	g.5045766G>A	CA383466876	KCNA5	c.1619G>A (p.Gly540Asp)	ClinVar gnomAD v4 COSMIC
12	g.5045766G>C	CA383466877	KCNA5	c.1619G>C (p.Gly540Ala)	gnomAD v4
12	g.5045766G=	CA2013431379	KCNA5	c.1619G= (p.Gly540=)
12	g.5045766G>T	CA6399906	KCNA5	c.1619G>T (p.Gly540Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045767del	CA645578790	KCNA5	c.1620del (p.Thr541LeufsTer?)	COSMIC
12	g.5045767C>A	CA478095782	KCNA5	c.1620C>A (p.Gly540=)	gnomAD v4
12	g.5045767C=	CA2013431380	KCNA5	c.1620C= (p.Gly540=)
12	g.5045767C>G	CA6399907	KCNA5	c.1620C>G (p.Gly540=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045767C>T	CA478095783	KCNA5	c.1620C>T (p.Gly540=)	dbSNP gnomAD v4
12	g.5045768A>C	CA383466878	KCNA5	c.1621A>C (p.Thr541Pro)
12	g.5045768A>G	CA383466879	KCNA5	c.1621A>G (p.Thr541Ala)
12	g.5045768A>T	CA383466880	KCNA5	c.1621A>T (p.Thr541Ser)
12	g.5045769C>A	CA383466881	KCNA5	c.1622C>A (p.Thr541Asn)
12	g.5045769C=	CA2013431381	KCNA5	c.1622C= (p.Thr541=)
12	g.5045769C>G	CA383466882	KCNA5	c.1622C>G (p.Thr541Ser)	dbSNP gnomAD v4
12	g.5045769C>T	CA6399908	KCNA5	c.1622C>T (p.Thr541Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045770T>A	CA478095784	KCNA5	c.1623T>A (p.Thr541=)
12	g.5045770T>C	CA478095786	KCNA5	c.1623T>C (p.Thr541=)	gnomAD v4
12	g.5045770T>G	CA478095785	KCNA5	c.1623T>G (p.Thr541=)
12	g.5045771C>A	CA383466883	KCNA5	c.1624C>A (p.Gln542Lys)	COSMIC
12	g.5045771C>G	CA383466884	KCNA5	c.1624C>G (p.Gln542Glu)
12	g.5045771C>T	CA383466885	KCNA5	c.1624C>T (p.Gln542Ter)
12	g.5045772A>C	CA383466886	KCNA5	c.1625A>C (p.Gln542Pro)
12	g.5045772A>G	CA383466887	KCNA5	c.1625A>G (p.Gln542Arg)
12	g.5045772A>T	CA383466888	KCNA5	c.1625A>T (p.Gln542Leu)
12	g.5045773G>A	CA478095787	KCNA5	c.1626G>A (p.Gln542=)	gnomAD v4
12	g.5045773G>C	CA383466889	KCNA5	c.1626G>C (p.Gln542His)	gnomAD v4
12	g.5045773G=	CA2013431382	KCNA5	c.1626G= (p.Gln542=)
12	g.5045773G>T	CA231869181	KCNA5	c.1626G>T (p.Gln542His)	dbSNP gnomAD v3 gnomAD v4
12	g.5045774A=	CA2013431383	KCNA5	c.1627A= (p.Ser543=)
12	g.5045774A>C	CA383466890	KCNA5	c.1627A>C (p.Ser543Arg)
12	g.5045774A>G	CA383466891	KCNA5	c.1627A>G (p.Ser543Gly)	dbSNP
12	g.5045774A>T	CA383466892	KCNA5	c.1627A>T (p.Ser543Cys)
12	g.5045775G>A	CA6399909	KCNA5	c.1628G>A (p.Ser543Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045775G>C	CA383466893	KCNA5	c.1628G>C (p.Ser543Thr)
12	g.5045775G=	CA2013431384	KCNA5	c.1628G= (p.Ser543=)
12	g.5045775G>T	CA383466894	KCNA5	c.1628G>T (p.Ser543Ile)
12	g.5045776C>A	CA383466895	KCNA5	c.1629C>A (p.Ser543Arg)
12	g.5045776C>G	CA383466896	KCNA5	c.1629C>G (p.Ser543Arg)
12	g.5045776C>T	CA478095788	KCNA5	c.1629C>T (p.Ser543=)
12	g.5045777C>A	CA383466897	KCNA5	c.1630C>A (p.Gln544Lys)
12	g.5045777C>G	CA383466898	KCNA5	c.1630C>G (p.Gln544Glu)
12	g.5045777C>T	CA383466899	KCNA5	c.1630C>T (p.Gln544Ter)
12	g.5045778A=	CA2013431385	KCNA5	c.1631A= (p.Gln544=)
12	g.5045778A>C	CA383466900	KCNA5	c.1631A>C (p.Gln544Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.5045778A>G	CA383466901	KCNA5	c.1631A>G (p.Gln544Arg)	gnomAD v4 COSMIC
12	g.5045778A>T	CA383466902	KCNA5	c.1631A>T (p.Gln544Leu)
12	g.5045779G>A	CA478095789	KCNA5	c.1632G>A (p.Gln544=)	gnomAD v4
12	g.5045779G>C	CA383466903	KCNA5	c.1632G>C (p.Gln544His)
12	g.5045779G>T	CA383466904	KCNA5	c.1632G>T (p.Gln544His)
12	g.5045780G>A	CA383466905	KCNA5	c.1633G>A (p.Gly545Arg)
12	g.5045780G>C	CA383466906	KCNA5	c.1633G>C (p.Gly545Arg)	gnomAD v4
12	g.5045780G>T	CA383466907	KCNA5	c.1633G>T (p.Gly545Trp)
12	g.5045781G>A	CA6399910	KCNA5	c.1634G>A (p.Gly545Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045781G>C	CA383466909	KCNA5	c.1634G>C (p.Gly545Ala)
12	g.5045781G=	CA2013431386	KCNA5	c.1634G= (p.Gly545=)
12	g.5045781G>T	CA383466908	KCNA5	c.1634G>T (p.Gly545Val)
12	g.5045782G>A	CA478095790	KCNA5	c.1635G>A (p.Gly545=)
12	g.5045782G>C	CA231869198	KCNA5	c.1635G>C (p.Gly545=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045782G=	CA2013431387	KCNA5	c.1635G= (p.Gly545=)
12	g.5045782G>T	CA478095791	KCNA5	c.1635G>T (p.Gly545=)
12	g.5045783C>A	CA383466911	KCNA5	c.1636C>A (p.Pro546Thr)	dbSNP gnomAD v4
12	g.5045783C=	CA2013431388	KCNA5	c.1636C= (p.Pro546=)
12	g.5045783C>G	CA383466910	KCNA5	c.1636C>G (p.Pro546Ala)	gnomAD v4
12	g.5045783C>T	CA6399911	KCNA5	c.1636C>T (p.Pro546Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045784C>A	CA383466912	KCNA5	c.1637C>A (p.Pro546Gln)	dbSNP gnomAD v4
12	g.5045784C=	CA2013431389	KCNA5	c.1637C= (p.Pro546=)
12	g.5045784C>G	CA383466913	KCNA5	c.1637C>G (p.Pro546Arg)
12	g.5045784C>T	CA231869210	KCNA5	c.1637C>T (p.Pro546Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045785G>A	CA231869219	KCNA5	c.1638G>A (p.Pro546=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045785G>C	CA478095792	KCNA5	c.1638G>C (p.Pro546=)
12	g.5045785G=	CA2013431390	KCNA5	c.1638G= (p.Pro546=)
12	g.5045785G>T	CA478095793	KCNA5	c.1638G>T (p.Pro546=)
12	g.5045786G>A	CA383466914	KCNA5	c.1639G>A (p.Gly547Arg)	gnomAD v4
12	g.5045786G>C	CA383466915	KCNA5	c.1639G>C (p.Gly547Arg)
12	g.5045786G>T	CA383466916	KCNA5	c.1639G>T (p.Gly547Trp)
12	g.5045787G>A	CA383466917	KCNA5	c.1640G>A (p.Gly547Glu)	dbSNP gnomAD v4
12	g.5045787G>C	CA383466918	KCNA5	c.1640G>C (p.Gly547Ala)
12	g.5045787G=	CA2013431391	KCNA5	c.1640G= (p.Gly547=)
12	g.5045787G>T	CA383466919	KCNA5	c.1640G>T (p.Gly547Val)
12	g.5045788G>A	CA478095795	KCNA5	c.1641G>A (p.Gly547=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045788G>C	CA478095796	KCNA5	c.1641G>C (p.Gly547=)
12	g.5045788G=	CA2013431392	KCNA5	c.1641G= (p.Gly547=)
12	g.5045788G>T	CA478095797	KCNA5	c.1641G>T (p.Gly547=)	ClinVar dbSNP gnomAD v4
12	g.5045789C>A	CA383466920	KCNA5	c.1642C>A (p.Leu548Met)
12	g.5045789C>G	CA383466921	KCNA5	c.1642C>G (p.Leu548Val)	gnomAD v4
12	g.5045789C>T	CA478095799	KCNA5	c.1642C>T (p.Leu548=)
12	g.5045790T>A	CA383466922	KCNA5	c.1643T>A (p.Leu548Gln)
12	g.5045790T>C	CA6399912	KCNA5	c.1643T>C (p.Leu548Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045790T>G	CA383466923	KCNA5	c.1643T>G (p.Leu548Arg)	gnomAD v4
12	g.5045790T=	CA2013431393	KCNA5	c.1643T= (p.Leu548=)
12	g.5045791G>A	CA231869235	KCNA5	c.1644G>A (p.Leu548=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045791G>C	CA478095800	KCNA5	c.1644G>C (p.Leu548=)
12	g.5045791G=	CA2013431394	KCNA5	c.1644G= (p.Leu548=)
12	g.5045791G>T	CA478095802	KCNA5	c.1644G>T (p.Leu548=)
12	g.5045792G>A	CA383466924	KCNA5	c.1645G>A (p.Asp549Asn)	dbSNP COSMIC
12	g.5045792G>C	CA383466925	KCNA5	c.1645G>C (p.Asp549His)
12	g.5045792G=	CA2013431395	KCNA5	c.1645G= (p.Asp549=)
12	g.5045792G>T	CA383466926	KCNA5	c.1645G>T (p.Asp549Tyr)
12	g.5045793A>C	CA383466927	KCNA5	c.1646A>C (p.Asp549Ala)
12	g.5045793A>G	CA383466928	KCNA5	c.1646A>G (p.Asp549Gly)
12	g.5045793A>T	CA383466929	KCNA5	c.1646A>T (p.Asp549Val)
12	g.5045794C>A	CA383466930	KCNA5	c.1647C>A (p.Asp549Glu)
12	g.5045794C>G	CA383466931	KCNA5	c.1647C>G (p.Asp549Glu)	gnomAD v4
12	g.5045794C>T	CA478095805	KCNA5	c.1647C>T (p.Asp549=)	gnomAD v4
12	g.5045795A=	CA2013431396	KCNA5	c.1648A= (p.Arg550=)
12	g.5045795A>C	CA478095807	KCNA5	c.1648A>C (p.Arg550=)
12	g.5045795A>G	CA231869237	KCNA5	c.1648A>G (p.Arg550Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.5045795A>T	CA383466932	KCNA5	c.1648A>T (p.Arg550Ter)
12	g.5045796G>A	CA383466935	KCNA5	c.1649G>A (p.Arg550Lys)	gnomAD v4
12	g.5045796G>C	CA383466934	KCNA5	c.1649G>C (p.Arg550Thr)	COSMIC
12	g.5045796G>T	CA383466933	KCNA5	c.1649G>T (p.Arg550Ile)
12	g.5045797A=	CA2013431397	KCNA5	c.1650A= (p.Arg550=)
12	g.5045797A>C	CA383466936	KCNA5	c.1650A>C (p.Arg550Ser)	ClinVar dbSNP
12	g.5045797A>G	CA6399913	KCNA5	c.1650A>G (p.Arg550=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045797A>T	CA383466937	KCNA5	c.1650A>T (p.Arg550Ser)
12	g.5045798G>A	CA231869249	KCNA5	c.1651G>A (p.Gly551Arg)	dbSNP
12	g.5045798G>C	CA383466938	KCNA5	c.1651G>C (p.Gly551Arg)
12	g.5045798G=	CA2013431398	KCNA5	c.1651G= (p.Gly551=)
12	g.5045798G>T	CA383466939	KCNA5	c.1651G>T (p.Gly551Ter)	gnomAD v4
12	g.5045799G>A	CA383466940	KCNA5	c.1652G>A (p.Gly551Glu)	gnomAD v4
12	g.5045799G>C	CA383466941	KCNA5	c.1652G>C (p.Gly551Ala)
12	g.5045799G>T	CA383466942	KCNA5	c.1652G>T (p.Gly551Val)
12	g.5045800A>C	CA478095809	KCNA5	c.1653A>C (p.Gly551=)	gnomAD v4
12	g.5045800A>G	CA478095810	KCNA5	c.1653A>G (p.Gly551=)
12	g.5045800A>T	CA478095811	KCNA5	c.1653A>T (p.Gly551=)
12	g.5045801G>A	CA383466943	KCNA5	c.1654G>A (p.Val552Ile)	gnomAD v4
12	g.5045801G>C	CA383466944	KCNA5	c.1654G>C (p.Val552Leu)	gnomAD v4
12	g.5045801G>T	CA383466945	KCNA5	c.1654G>T (p.Val552Phe)
12	g.5045802T>A	CA383466948	KCNA5	c.1655T>A (p.Val552Asp)	gnomAD v4
12	g.5045802T>C	CA383466946	KCNA5	c.1655T>C (p.Val552Ala)	gnomAD v4
12	g.5045802T>G	CA383466947	KCNA5	c.1655T>G (p.Val552Gly)
12	g.5045803C>A	CA478095813	KCNA5	c.1656C>A (p.Val552=)
12	g.5045803C=	CA2013431399	KCNA5	c.1656C= (p.Val552=)
12	g.5045803C>G	CA478095815	KCNA5	c.1656C>G (p.Val552=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045803C>T	CA478095817	KCNA5	c.1656C>T (p.Val552=)	COSMIC
12	g.5045804C>A	CA383466949	KCNA5	c.1657C>A (p.Gln553Lys)	dbSNP gnomAD v2 gnomAD v4
12	g.5045804C=	CA2013431400	KCNA5	c.1657C= (p.Gln553=)
12	g.5045804C>G	CA383466950	KCNA5	c.1657C>G (p.Gln553Glu)
12	g.5045804C>T	CA383466951	KCNA5	c.1657C>T (p.Gln553Ter)
12	g.5045805A=	CA2013431401	KCNA5	c.1658A= (p.Gln553=)
12	g.5045805A>C	CA383466952	KCNA5	c.1658A>C (p.Gln553Pro)	gnomAD v4
12	g.5045805A>G	CA383466953	KCNA5	c.1658A>G (p.Gln553Arg)	gnomAD v4
12	g.5045805A>T	CA383466954	KCNA5	c.1658A>T (p.Gln553Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5045806G>A	CA478095819	KCNA5	c.1659G>A (p.Gln553=)	gnomAD v4
12	g.5045806G>C	CA383466955	KCNA5	c.1659G>C (p.Gln553His)
12	g.5045806G>T	CA383466956	KCNA5	c.1659G>T (p.Gln553His)	COSMIC
12	g.5045807C>A	CA6399915	KCNA5	c.1660C>A (p.Arg554=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045807C=	CA2013431402	KCNA5	c.1660C= (p.Arg554=)
12	g.5045807C>G	CA383466957	KCNA5	c.1660C>G (p.Arg554Gly)
12	g.5045807C>T	CA6399914	KCNA5	c.1660C>T (p.Arg554Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045808G>A	CA6399916	KCNA5	c.1661G>A (p.Arg554Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045808G>C	CA383466959	KCNA5	c.1661G>C (p.Arg554Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.5045808G=	CA2013431403	KCNA5	c.1661G= (p.Arg554=)
12	g.5045808G>T	CA383466958	KCNA5	c.1661G>T (p.Arg554Leu)
12	g.5045809G>A	CA478095825	KCNA5	c.1662G>A (p.Arg554=)	COSMIC
12	g.5045809G>C	CA478095826	KCNA5	c.1662G>C (p.Arg554=)	ClinVar dbSNP gnomAD v4
12	g.5045809G>T	CA478095827	KCNA5	c.1662G>T (p.Arg554=)
12	g.5045810A>C	CA383466960	KCNA5	c.1663A>C (p.Lys555Gln)
12	g.5045810A>G	CA383466962	KCNA5	c.1663A>G (p.Lys555Glu)
12	g.5045810A>T	CA383466961	KCNA5	c.1663A>T (p.Lys555Ter)	COSMIC
12	g.5045811A>C	CA383466963	KCNA5	c.1664A>C (p.Lys555Thr)
12	g.5045811A>G	CA383466965	KCNA5	c.1664A>G (p.Lys555Arg)
12	g.5045811A>T	CA383466964	KCNA5	c.1664A>T (p.Lys555Met)
12	g.5045812G>A	CA478095829	KCNA5	c.1665G>A (p.Lys555=)	gnomAD v4
12	g.5045812G>C	CA383466966	KCNA5	c.1665G>C (p.Lys555Asn)
12	g.5045812G>T	CA383466967	KCNA5	c.1665G>T (p.Lys555Asn)
12	g.5045813G>A	CA383466968	KCNA5	c.1666G>A (p.Val556Ile)
12	g.5045813G>C	CA383466969	KCNA5	c.1666G>C (p.Val556Leu)
12	g.5045813G>T	CA383466970	KCNA5	c.1666G>T (p.Val556Phe)	ClinVar
12	g.5045814T>A	CA383466971	KCNA5	c.1667T>A (p.Val556Asp)
12	g.5045814T>C	CA383466972	KCNA5	c.1667T>C (p.Val556Ala)
12	g.5045814T>G	CA383466973	KCNA5	c.1667T>G (p.Val556Gly)	dbSNP
12	g.5045814T=	CA2013431404	KCNA5	c.1667T= (p.Val556=)
12	g.5045814dup	CA2575052199	KCNA5	c.1667dup (p.Ser557GlnfsTer?)	ClinVar gnomAD v4
12	g.5045815C>A	CA478095832	KCNA5	c.1668C>A (p.Val556=)
12	g.5045815C>G	CA478095833	KCNA5	c.1668C>G (p.Val556=)
12	g.5045815C>T	CA478095835	KCNA5	c.1668C>T (p.Val556=)
12	g.5045816A=	CA2013431405	KCNA5	c.1669A= (p.Ser557=)
12	g.5045816A>C	CA383466974	KCNA5	c.1669A>C (p.Ser557Arg)
12	g.5045816A>G	CA383466975	KCNA5	c.1669A>G (p.Ser557Gly)	dbSNP gnomAD v4
12	g.5045816A>T	CA383466976	KCNA5	c.1669A>T (p.Ser557Cys)
12	g.5045817G>A	CA6399918	KCNA5	c.1670G>A (p.Ser557Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045817G>C	CA6399917	KCNA5	c.1670G>C (p.Ser557Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045817G=	CA2013431406	KCNA5	c.1670G= (p.Ser557=)
12	g.5045817G>T	CA383466977	KCNA5	c.1670G>T (p.Ser557Ile)	gnomAD v4
12	g.5045818C>A	CA6399919	KCNA5	c.1671C>A (p.Ser557Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045818C=	CA2013431407	KCNA5	c.1671C= (p.Ser557=)
12	g.5045818C>G	CA383466978	KCNA5	c.1671C>G (p.Ser557Arg)
12	g.5045818C>T	CA478095837	KCNA5	c.1671C>T (p.Ser557=)	gnomAD v4 COSMIC
12	g.5045819G>A	CA6399920	KCNA5	c.1672G>A (p.Gly558Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045819G>C	CA383466979	KCNA5	c.1672G>C (p.Gly558Arg)
12	g.5045819G=	CA2013431408	KCNA5	c.1672G= (p.Gly558=)
12	g.5045819G>T	CA383466980	KCNA5	c.1672G>T (p.Gly558Trp)
12	g.5045820G>A	CA383466981	KCNA5	c.1673G>A (p.Gly558Glu)
12	g.5045820G>C	CA383466982	KCNA5	c.1673G>C (p.Gly558Ala)
12	g.5045820G>T	CA383466983	KCNA5	c.1673G>T (p.Gly558Val)
12	g.5045821G>A	CA478095841	KCNA5	c.1674G>A (p.Gly558=)
12	g.5045821G>C	CA478095840	KCNA5	c.1674G>C (p.Gly558=)	gnomAD v4
12	g.5045821G>T	CA478095839	KCNA5	c.1674G>T (p.Gly558=)
12	g.5045822A>C	CA383466984	KCNA5	c.1675A>C (p.Ser559Arg)
12	g.5045822A>G	CA383466985	KCNA5	c.1675A>G (p.Ser559Gly)
12	g.5045822A>T	CA383466986	KCNA5	c.1675A>T (p.Ser559Cys)
12	g.5045823G>A	CA383466989	KCNA5	c.1676G>A (p.Ser559Asn)	gnomAD v4
12	g.5045823G>C	CA383466988	KCNA5	c.1676G>C (p.Ser559Thr)
12	g.5045823G>T	CA383466987	KCNA5	c.1676G>T (p.Ser559Ile)
12	g.5045824C>A	CA383466990	KCNA5	c.1677C>A (p.Ser559Arg)
12	g.5045824C=	CA2013431409	KCNA5	c.1677C= (p.Ser559=)
12	g.5045824C>G	CA383466991	KCNA5	c.1677C>G (p.Ser559Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045824C>T	CA231869273	KCNA5	c.1677C>T (p.Ser559=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045825A>C	CA478095845	KCNA5	c.1678A>C (p.Arg560=)
12	g.5045825A>G	CA383466992	KCNA5	c.1678A>G (p.Arg560Gly)
12	g.5045825A>T	CA383466993	KCNA5	c.1678A>T (p.Arg560Trp)
12	g.5045826G>A	CA383466994	KCNA5	c.1679G>A (p.Arg560Lys)	gnomAD v4
12	g.5045826G>C	CA383466995	KCNA5	c.1679G>C (p.Arg560Thr)
12	g.5045826G>T	CA383466996	KCNA5	c.1679G>T (p.Arg560Met)	gnomAD v4
12	g.5045827G>A	CA6399921	KCNA5	c.1680G>A (p.Arg560=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045827G>C	CA383466997	KCNA5	c.1680G>C (p.Arg560Ser)
12	g.5045827G=	CA2013431410	KCNA5	c.1680G= (p.Arg560=)
12	g.5045827G>T	CA383466998	KCNA5	c.1680G>T (p.Arg560Ser)
12	g.5045828G>A	CA383466999	KCNA5	c.1681G>A (p.Gly561Arg)	gnomAD v4
12	g.5045828G>C	CA383467000	KCNA5	c.1681G>C (p.Gly561Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045828G=	CA2013431411	KCNA5	c.1681G= (p.Gly561=)
12	g.5045828G>T	CA383467001	KCNA5	c.1681G>T (p.Gly561Ter)
12	g.5045829G>A	CA383467004	KCNA5	c.1682G>A (p.Gly561Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.5045829G>C	CA383467002	KCNA5	c.1682G>C (p.Gly561Ala)
12	g.5045829G=	CA2013431412	KCNA5	c.1682G= (p.Gly561=)
12	g.5045829G>T	CA383467003	KCNA5	c.1682G>T (p.Gly561Val)	gnomAD v4
12	g.5045830A=	CA2013431413	KCNA5	c.1683A= (p.Gly561=)
12	g.5045830A>C	CA478095849	KCNA5	c.1683A>C (p.Gly561=)
12	g.5045830A>G	CA478095847	KCNA5	c.1683A>G (p.Gly561=)	gnomAD v4
12	g.5045830A>T	CA478095848	KCNA5	c.1683A>T (p.Gly561=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045831T>A	CA6399922	KCNA5	c.1684T>A (p.Ser562Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045831T>C	CA383467005	KCNA5	c.1684T>C (p.Ser562Pro)
12	g.5045831T>G	CA383467006	KCNA5	c.1684T>G (p.Ser562Ala)
12	g.5045831T=	CA2013431414	KCNA5	c.1684T= (p.Ser562=)
12	g.5045832C>A	CA383467007	KCNA5	c.1685C>A (p.Ser562Tyr)
12	g.5045832C>G	CA383467008	KCNA5	c.1685C>G (p.Ser562Cys)
12	g.5045832C>T	CA383467009	KCNA5	c.1685C>T (p.Ser562Phe)	gnomAD v4 COSMIC
12	g.5045833del	CA2695215942	KCNA5	c.1686del (p.Phe563SerfsTer21)
12	g.5045833C>A	CA478095850	KCNA5	c.1686C>A (p.Ser562=)
12	g.5045833C=	CA2013431415	KCNA5	c.1686C= (p.Ser562=)
12	g.5045833C>G	CA478095851	KCNA5	c.1686C>G (p.Ser562=)
12	g.5045833C>T	CA478095852	KCNA5	c.1686C>T (p.Ser562=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045834T>A	CA383467010	KCNA5	c.1687T>A (p.Phe563Ile)	dbSNP gnomAD v2 gnomAD v4
12	g.5045834T>C	CA383467011	KCNA5	c.1687T>C (p.Phe563Leu)
12	g.5045834T>G	CA383467012	KCNA5	c.1687T>G (p.Phe563Val)
12	g.5045834T=	CA2013431416	KCNA5	c.1687T= (p.Phe563=)
12	g.5045835T>A	CA383467013	KCNA5	c.1688T>A (p.Phe563Tyr)
12	g.5045835T>C	CA383467014	KCNA5	c.1688T>C (p.Phe563Ser)
12	g.5045835T>G	CA383467015	KCNA5	c.1688T>G (p.Phe563Cys)
12	g.5045836C>A	CA383467017	KCNA5	c.1689C>A (p.Phe563Leu)
12	g.5045836C>G	CA383467016	KCNA5	c.1689C>G (p.Phe563Leu)
12	g.5045836C>T	CA478095853	KCNA5	c.1689C>T (p.Phe563=)
12	g.5045837T>A	CA383467018	KCNA5	c.1690T>A (p.Cys564Ser)
12	g.5045837T>C	CA383467019	KCNA5	c.1690T>C (p.Cys564Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045837T>G	CA383467020	KCNA5	c.1690T>G (p.Cys564Gly)
12	g.5045837T=	CA2013431417	KCNA5	c.1690T= (p.Cys564=)
12	g.5045838G>A	CA231869276	KCNA5	c.1691G>A (p.Cys564Tyr)	dbSNP
12	g.5045838G>C	CA383467021	KCNA5	c.1691G>C (p.Cys564Ser)
12	g.5045838G=	CA2013431418	KCNA5	c.1691G= (p.Cys564=)
12	g.5045838G>T	CA383467022	KCNA5	c.1691G>T (p.Cys564Phe)
12	g.5045839C>A	CA383467023	KCNA5	c.1692C>A (p.Cys564Ter)
12	g.5045839C>G	CA383467024	KCNA5	c.1692C>G (p.Cys564Trp)
12	g.5045839C>T	CA478095855	KCNA5	c.1692C>T (p.Cys564=)	gnomAD v4
12	g.5045840A=	CA2013431419	KCNA5	c.1693A= (p.Lys565=)
12	g.5045840A>C	CA383467025	KCNA5	c.1693A>C (p.Lys565Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045840A>G	CA383467026	KCNA5	c.1693A>G (p.Lys565Glu)
12	g.5045840A>T	CA383467027	KCNA5	c.1693A>T (p.Lys565Ter)
12	g.5045841A>C	CA383467028	KCNA5	c.1694A>C (p.Lys565Thr)
12	g.5045841A>G	CA383467029	KCNA5	c.1694A>G (p.Lys565Arg)
12	g.5045841A>T	CA383467030	KCNA5	c.1694A>T (p.Lys565Met)
12	g.5045842G>A	CA6399923	KCNA5	c.1695G>A (p.Lys565=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045842G>C	CA383467032	KCNA5	c.1695G>C (p.Lys565Asn)	dbSNP COSMIC
12	g.5045842G=	CA2013431420	KCNA5	c.1695G= (p.Lys565=)
12	g.5045842G>T	CA383467031	KCNA5	c.1695G>T (p.Lys565Asn)
12	g.5045843G>A	CA383467033	KCNA5	c.1696G>A (p.Ala566Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5045843G>C	CA383467034	KCNA5	c.1696G>C (p.Ala566Pro)	ClinVar dbSNP
12	g.5045843G>T	CA383467035	KCNA5	c.1696G>T (p.Ala566Ser)
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

Number of alleles fetched