Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)

Number of alleles fetched