Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.79491665_79491666delinsGC	CA1640629314	LCA5	c.1020_1021delinsGC (p.Lys340=)
6	g.79491666del	CA236451	LCA5	c.1020del (p.Lys340AsnfsTer7)	ClinVar dbSNP
6	g.79491666C>A	CA364643996	LCA5	c.1020G>T (p.Lys340Asn)
6	g.79491666C=	CA1640629315	LCA5	c.1020G= (p.Lys340=)
6	g.79491666C>G	CA364643999	LCA5	c.1020G>C (p.Lys340Asn)
6	g.79491666C>T	CA3900956	LCA5	c.1020G>A (p.Lys340=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.79491667T>A	CA364644002	LCA5	c.1019A>T (p.Lys340Met)	gnomAD v4
6	g.79491667T>C	CA3900957	LCA5	c.1019A>G (p.Lys340Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79491667T>G	CA364644006	LCA5	c.1019A>C (p.Lys340Thr)
6	g.79491667T=	CA1640629316	LCA5	c.1019A= (p.Lys340=)
6	g.79491668T>A	CA364644010	LCA5	c.1018A>T (p.Lys340Ter)
6	g.79491668T>C	CA364644013	LCA5	c.1018A>G (p.Lys340Glu)
6	g.79491668T>G	CA364644016	LCA5	c.1018A>C (p.Lys340Gln)
6	g.79491669G>A	CA141863307	LCA5	c.1017C>T (p.Phe339=)	dbSNP
6	g.79491669G>C	CA364644024	LCA5	c.1017C>G (p.Phe339Leu)
6	g.79491669G=	CA1640629317	LCA5	c.1017C= (p.Phe339=)
6	g.79491669G>T	CA364644027	LCA5	c.1017C>A (p.Phe339Leu)	dbSNP
6	g.79491670A=	CA1640629318	LCA5	c.1016T= (p.Phe339=)
6	g.79491670A>C	CA364644030	LCA5	c.1016T>G (p.Phe339Cys)	dbSNP
6	g.79491670A>G	CA3900958	LCA5	c.1016T>C (p.Phe339Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79491670A>T	CA364644033	LCA5	c.1016T>A (p.Phe339Tyr)
6	g.79491671A>C	CA364644037	LCA5	c.1015T>G (p.Phe339Val)
6	g.79491671A>G	CA364644039	LCA5	c.1015T>C (p.Phe339Leu)	gnomAD v4
6	g.79491671A>T	CA364644041	LCA5	c.1015T>A (p.Phe339Ile)
6	g.79491672G>A	CA451009927	LCA5	c.1014C>T (p.Asp338=)
6	g.79491672G>C	CA364644042	LCA5	c.1014C>G (p.Asp338Glu)
6	g.79491672G>T	CA364644043	LCA5	c.1014C>A (p.Asp338Glu)
6	g.79491673T>A	CA364644045	LCA5	c.1013A>T (p.Asp338Val)
6	g.79491673T>C	CA364644047	LCA5	c.1013A>G (p.Asp338Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.79491673T>G	CA364644048	LCA5	c.1013A>C (p.Asp338Ala)
6	g.79491673T=	CA1640629319	LCA5	c.1013A= (p.Asp338=)
6	g.79491674C>A	CA364644049	LCA5	c.1012G>T (p.Asp338Tyr)	gnomAD v4
6	g.79491674C>G	CA364644050	LCA5	c.1012G>C (p.Asp338His)
6	g.79491674C>T	CA364644052	LCA5	c.1012G>A (p.Asp338Asn)	gnomAD v4
6	g.79491675T>A	CA364644055	LCA5	c.1011A>T (p.Glu337Asp)
6	g.79491675T>C	CA451009930	LCA5	c.1011A>G (p.Glu337=)
6	g.79491675T>G	CA364644053	LCA5	c.1011A>C (p.Glu337Asp)	dbSNP
6	g.79491675T=	CA1640629320	LCA5	c.1011A= (p.Glu337=)
6	g.79491676T>A	CA364644056	LCA5	c.1010A>T (p.Glu337Val)
6	g.79491676T>C	CA364644058	LCA5	c.1010A>G (p.Glu337Gly)
6	g.79491676T>G	CA364644057	LCA5	c.1010A>C (p.Glu337Ala)
6	g.79491677C>A	CA364644059	LCA5	c.1009G>T (p.Glu337Ter)
6	g.79491677C>G	CA364644062	LCA5	c.1009G>C (p.Glu337Gln)
6	g.79491677C>T	CA364644063	LCA5	c.1009G>A (p.Glu337Lys)
6	g.79491678C>A	CA364644066	LCA5	c.1008G>T (p.Met336Ile)
6	g.79491678C>G	CA364644070	LCA5	c.1008G>C (p.Met336Ile)
6	g.79491678C>T	CA364644073	LCA5	c.1008G>A (p.Met336Ile)
6	g.79491679A>C	CA364644079	LCA5	c.1007T>G (p.Met336Arg)
6	g.79491679A>G	CA364644081	LCA5	c.1007T>C (p.Met336Thr)
6	g.79491679A>T	CA364644083	LCA5	c.1007T>A (p.Met336Lys)

Number of alleles fetched