Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64590663_64590665delinsAAC	CA1633809072	EYS	c.5202_5204delinsGTT (p.Leu1734=)
6	g.64590665_64590666del	CA270058	EYS	c.5202_5203del (p.Phe1735GlnfsTer6)	ClinVar dbSNP
6	g.64590665C>A	CA450862780	EYS	c.5202G>T (p.Leu1734=)
6	g.64590665C>G	CA450862781	EYS	c.5202G>C (p.Leu1734=)	ClinVar
6	g.64590665C>T	CA450862782	EYS	c.5202G>A (p.Leu1734=)	ClinVar
6	g.64590666A=	CA1633809073	EYS	c.5201T= (p.Leu1734=)
6	g.64590666A>C	CA364781619	EYS	c.5201T>G (p.Leu1734Arg)
6	g.64590666A>G	CA140340902	EYS	c.5201T>C (p.Leu1734Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64590666A>T	CA364781620	EYS	c.5201T>A (p.Leu1734Gln)
6	g.64590667G>A	CA450862784	EYS	c.5200C>T (p.Leu1734=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64590667G>C	CA364781622	EYS	c.5200C>G (p.Leu1734Val)
6	g.64590667G=	CA1633809074	EYS	c.5200C= (p.Leu1734=)
6	g.64590667G>T	CA364781621	EYS	c.5200C>A (p.Leu1734Met)
6	g.64590668T>A	CA450862786	EYS	c.5199A>T (p.Thr1733=)
6	g.64590668T>C	CA3877035	EYS	c.5199A>G (p.Thr1733=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64590668T>G	CA450862788	EYS	c.5199A>C (p.Thr1733=)	gnomAD v4
6	g.64590668T=	CA1633809075	EYS	c.5199A= (p.Thr1733=)
6	g.64590669G>A	CA364781623	EYS	c.5198C>T (p.Thr1733Ile)
6	g.64590669G>C	CA364781624	EYS	c.5198C>G (p.Thr1733Arg)
6	g.64590669G>T	CA364781625	EYS	c.5198C>A (p.Thr1733Lys)
6	g.64590670T>A	CA364781626	EYS	c.5197A>T (p.Thr1733Ser)	gnomAD v4
6	g.64590670T>C	CA364781627	EYS	c.5197A>G (p.Thr1733Ala)
6	g.64590670T>G	CA364781628	EYS	c.5197A>C (p.Thr1733Pro)
6	g.64590671A=	CA1633809076	EYS	c.5196T= (p.His1732=)
6	g.64590671A>C	CA364781629	EYS	c.5196T>G (p.His1732Gln)
6	g.64590671A>G	CA450862791	EYS	c.5196T>C (p.His1732=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64590671A>T	CA364781630	EYS	c.5196T>A (p.His1732Gln)
6	g.64590672T>A	CA364781631	EYS	c.5195A>T (p.His1732Leu)
6	g.64590672T>C	CA364781632	EYS	c.5195A>G (p.His1732Arg)	dbSNP gnomAD v4
6	g.64590672T>G	CA364781633	EYS	c.5195A>C (p.His1732Pro)	gnomAD v4
6	g.64590672T=	CA1633809077	EYS	c.5195A= (p.His1732=)
6	g.64590673G>A	CA364781634	EYS	c.5194C>T (p.His1732Tyr)
6	g.64590673G>C	CA364781636	EYS	c.5194C>G (p.His1732Asp)	ClinVar dbSNP
6	g.64590673G=	CA1633809078	EYS	c.5194C= (p.His1732=)
6	g.64590673G>T	CA364781635	EYS	c.5194C>A (p.His1732Asn)
6	g.64590674A=	CA1633809079	EYS	c.5193T= (p.Ser1731=)
6	g.64590674A>C	CA450862795	EYS	c.5193T>G (p.Ser1731=)
6	g.64590674A>G	CA450862797	EYS	c.5193T>C (p.Ser1731=)
6	g.64590674A>T	CA450862798	EYS	c.5193T>A (p.Ser1731=)	dbSNP gnomAD v3 gnomAD v4
6	g.64590675G>A	CA364781637	EYS	c.5192C>T (p.Ser1731Phe)	dbSNP
6	g.64590675G>C	CA364781638	EYS	c.5192C>G (p.Ser1731Cys)	gnomAD v4
6	g.64590675G=	CA1633809080	EYS	c.5192C= (p.Ser1731=)
6	g.64590675G>T	CA364781639	EYS	c.5192C>A (p.Ser1731Tyr)
6	g.64590676A>C	CA364781640	EYS	c.5191T>G (p.Ser1731Ala)	gnomAD v4
6	g.64590676A>G	CA364781641	EYS	c.5191T>C (p.Ser1731Pro)	gnomAD v4
6	g.64590676A>T	CA364781642	EYS	c.5191T>A (p.Ser1731Thr)	gnomAD v4
6	g.64590677T>A	CA450862806	EYS	c.5190A>T (p.Gly1730=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64590677T>C	CA450862808	EYS	c.5190A>G (p.Gly1730=)
6	g.64590677T>G	CA450862809	EYS	c.5190A>C (p.Gly1730=)
6	g.64590677T=	CA1633809081	EYS	c.5190A= (p.Gly1730=)

Number of alleles fetched