Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.79493636G>A	CA204615	LCA5	c.835C>T (p.Gln279Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493636G>C	CA364645243	LCA5	c.835C>G (p.Gln279Glu)
6	g.79493636G=	CA1640630136	LCA5	c.835C= (p.Gln279=)
6	g.79493636G>T	CA364645244	LCA5	c.835C>A (p.Gln279Lys)
6	g.79493637T>A	CA451012051	LCA5	c.834A>T (p.Val278=)
6	g.79493637T>C	CA451012059	LCA5	c.834A>G (p.Val278=)	ClinVar dbSNP
6	g.79493637T>G	CA451012060	LCA5	c.834A>C (p.Val278=)
6	g.79493638A>C	CA364645245	LCA5	c.833T>G (p.Val278Gly)
6	g.79493638A>G	CA364645246	LCA5	c.833T>C (p.Val278Ala)
6	g.79493638A>T	CA364645247	LCA5	c.833T>A (p.Val278Glu)
6	g.79493639C>A	CA364645248	LCA5	c.832G>T (p.Val278Leu)	gnomAD v4
6	g.79493639C>G	CA364645249	LCA5	c.832G>C (p.Val278Leu)	gnomAD v4
6	g.79493639C>T	CA364645250	LCA5	c.832G>A (p.Val278Ile)	gnomAD v4
6	g.79493640C>A	CA364645251	LCA5	c.831G>T (p.Glu277Asp)	dbSNP
6	g.79493640C=	CA1640630137	LCA5	c.831G= (p.Glu277=)
6	g.79493640C>G	CA364645252	LCA5	c.831G>C (p.Glu277Asp)	gnomAD v4
6	g.79493640C>T	CA451012082	LCA5	c.831G>A (p.Glu277=)
6	g.79493641T>A	CA3901015	LCA5	c.830A>T (p.Glu277Val)	dbSNP ExAC
6	g.79493641T>C	CA364645254	LCA5	c.830A>G (p.Glu277Gly)	gnomAD v4
6	g.79493641T>G	CA364645253	LCA5	c.830A>C (p.Glu277Ala)
6	g.79493641T=	CA1640630138	LCA5	c.830A= (p.Glu277=)
6	g.79493642C>A	CA364645255	LCA5	c.829G>T (p.Glu277Ter)
6	g.79493642C=	CA1640630139	LCA5	c.829G= (p.Glu277=)
6	g.79493642C>G	CA364645256	LCA5	c.829G>C (p.Glu277Gln)
6	g.79493642C>T	CA3901016	LCA5	c.829G>A (p.Glu277Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493643del	CA2695206736	LCA5	c.829del (p.Glu277ArgfsTer9)
6	g.79493643C>A	CA364645257	LCA5	c.828G>T (p.Lys276Asn)
6	g.79493643C>G	CA364645258	LCA5	c.828G>C (p.Lys276Asn)	gnomAD v4
6	g.79493643C>T	CA451012094	LCA5	c.828G>A (p.Lys276=)
6	g.79493644T>A	CA364645259	LCA5	c.827A>T (p.Lys276Met)
6	g.79493644T>C	CA3901017	LCA5	c.827A>G (p.Lys276Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493644T>G	CA364645260	LCA5	c.827A>C (p.Lys276Thr)
6	g.79493644T=	CA1640630140	LCA5	c.827A= (p.Lys276=)
6	g.79493645T>A	CA364645261	LCA5	c.826A>T (p.Lys276Ter)
6	g.79493645T>C	CA364645262	LCA5	c.826A>G (p.Lys276Glu)
6	g.79493645T>G	CA364645263	LCA5	c.826A>C (p.Lys276Gln)
6	g.79493646T>A	CA364645264	LCA5	c.825A>T (p.Gln275His)
6	g.79493646T>C	CA451012107	LCA5	c.825A>G (p.Gln275=)	dbSNP
6	g.79493646T>G	CA364645265	LCA5	c.825A>C (p.Gln275His)
6	g.79493646T=	CA1640630141	LCA5	c.825A= (p.Gln275=)
6	g.79493647T>A	CA364645267	LCA5	c.824A>T (p.Gln275Leu)
6	g.79493647T>C	CA3901018	LCA5	c.824A>G (p.Gln275Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493647T>G	CA364645266	LCA5	c.824A>C (p.Gln275Pro)
6	g.79493647T=	CA1640630142	LCA5	c.824A= (p.Gln275=)
6	g.79493648G>A	CA364645269	LCA5	c.823C>T (p.Gln275Ter)
6	g.79493648G>C	CA364645268	LCA5	c.823C>G (p.Gln275Glu)
6	g.79493648G>T	CA364645270	LCA5	c.823C>A (p.Gln275Lys)
6	g.79493649A>C	CA451012121	LCA5	c.822T>G (p.Leu274=)
6	g.79493649A>G	CA451012123	LCA5	c.822T>C (p.Leu274=)
6	g.79493649A>T	CA451012122	LCA5	c.822T>A (p.Leu274=)

Number of alleles fetched