Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)

Number of alleles fetched