Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64230698A=	CA1633626664	EYS	c.6318T= (p.Asp2106=)
6	g.64230698A>C	CA364391369	EYS	c.6318T>G (p.Asp2106Glu)
6	g.64230698A>G	CA3876929	EYS	c.6318T>C (p.Asp2106=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230698A>T	CA364391368	EYS	c.6318T>A (p.Asp2106Glu)	dbSNP gnomAD v2 gnomAD v4
6	g.64230699T>A	CA364391370	EYS	c.6317A>T (p.Asp2106Val)
6	g.64230699T>C	CA364391371	EYS	c.6317A>G (p.Asp2106Gly)	dbSNP
6	g.64230699T>G	CA364391372	EYS	c.6317A>C (p.Asp2106Ala)
6	g.64230699T=	CA1633626665	EYS	c.6317A= (p.Asp2106=)
6	g.64230700C>A	CA3876930	EYS	c.6316G>T (p.Asp2106Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230700C=	CA1633626666	EYS	c.6316G= (p.Asp2106=)
6	g.64230700C>G	CA364391373	EYS	c.6316G>C (p.Asp2106His)
6	g.64230700C>T	CA364391374	EYS	c.6316G>A (p.Asp2106Asn)
6	g.64230701C>A	CA364391375	EYS	c.6315G>T (p.Gln2105His)	gnomAD v4 COSMIC
6	g.64230701C>G	CA364391376	EYS	c.6315G>C (p.Gln2105His)
6	g.64230701C>T	CA450758816	EYS	c.6315G>A (p.Gln2105=)	gnomAD v4
6	g.64230702T>A	CA364391377	EYS	c.6314A>T (p.Gln2105Leu)	gnomAD v4
6	g.64230702T>C	CA364391378	EYS	c.6314A>G (p.Gln2105Arg)
6	g.64230702T>G	CA364391379	EYS	c.6314A>C (p.Gln2105Pro)
6	g.64230703G>A	CA364391380	EYS	c.6313C>T (p.Gln2105Ter)	ClinVar dbSNP
6	g.64230703G>C	CA364391381	EYS	c.6313C>G (p.Gln2105Glu)	gnomAD v4
6	g.64230703G=	CA1633626667	EYS	c.6313C= (p.Gln2105=)
6	g.64230703G>T	CA364391382	EYS	c.6313C>A (p.Gln2105Lys)	dbSNP gnomAD v2 gnomAD v4
6	g.64230704C>A	CA364391383	EYS	c.6312G>T (p.Gln2104His)
6	g.64230704C>G	CA364391384	EYS	c.6312G>C (p.Gln2104His)
6	g.64230704C>T	CA450758817	EYS	c.6312G>A (p.Gln2104=)	gnomAD v4
6	g.64230705T>A	CA364391385	EYS	c.6311A>T (p.Gln2104Leu)
6	g.64230705T>C	CA364391387	EYS	c.6311A>G (p.Gln2104Arg)
6	g.64230705T>G	CA364391386	EYS	c.6311A>C (p.Gln2104Pro)
6	g.64230706G>A	CA364391388	EYS	c.6310C>T (p.Gln2104Ter)
6	g.64230706G>C	CA364391389	EYS	c.6310C>G (p.Gln2104Glu)
6	g.64230706G>T	CA364391390	EYS	c.6310C>A (p.Gln2104Lys)
6	g.64230707G>A	CA450758818	EYS	c.6309C>T (p.Cys2103=)
6	g.64230707G>C	CA364391391	EYS	c.6309C>G (p.Cys2103Trp)
6	g.64230707G>T	CA364391392	EYS	c.6309C>A (p.Cys2103Ter)
6	g.64230707_64230708delinsGC	CA1633626668	EYS	c.6308_6309delinsGC (p.Cys2103=)
6	g.64230708del	CA568119118	EYS	c.6308del (p.Cys2103SerfsTer21)	dbSNP gnomAD v2 gnomAD v4
6	g.64230708C>A	CA364391393	EYS	c.6308G>T (p.Cys2103Phe)
6	g.64230708C>G	CA364391394	EYS	c.6308G>C (p.Cys2103Ser)
6	g.64230708C>T	CA364391395	EYS	c.6308G>A (p.Cys2103Tyr)
6	g.64230709A>C	CA364391396	EYS	c.6307T>G (p.Cys2103Gly)
6	g.64230709A>G	CA364391397	EYS	c.6307T>C (p.Cys2103Arg)
6	g.64230709A>T	CA364391398	EYS	c.6307T>A (p.Cys2103Ser)
6	g.64230710C>A	CA450758819	EYS	c.6306G>T (p.Val2102=)
6	g.64230710C=	CA1633626670	EYS	c.6306G= (p.Val2102=)
6	g.64230710C>G	CA450758820	EYS	c.6306G>C (p.Val2102=)
6	g.64230710C>T	CA450758821	EYS	c.6306G>A (p.Val2102=)	ClinVar dbSNP gnomAD v4
6	g.64230710_64230725delinsCACAGAGGGTGCTGCA	CA1633626669	EYS	c.6291_6306delinsTGCAGCACCCTCTGTG (p.Val2097=)
6	g.64230711A=	CA1633626671	EYS	c.6305T= (p.Val2102=)
6	g.64230711A>C	CA364391401	EYS	c.6305T>G (p.Val2102Gly)
6	g.64230711A>G	CA364391400	EYS	c.6305T>C (p.Val2102Ala)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched