Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64230694A=	CA1633626662	EYS	c.6322T= (p.Cys2108=)
6	g.64230694A>C	CA364391359	EYS	c.6322T>G (p.Cys2108Gly)
6	g.64230694A>G	CA364391360	EYS	c.6322T>C (p.Cys2108Arg)	ClinVar dbSNP
6	g.64230694A>T	CA364391361	EYS	c.6322T>A (p.Cys2108Ser)
6	g.64230695T>A	CA450758813	EYS	c.6321A>T (p.Val2107=)	gnomAD v4
6	g.64230695T>C	CA450758814	EYS	c.6321A>G (p.Val2107=)	ClinVar
6	g.64230695T>G	CA450758815	EYS	c.6321A>C (p.Val2107=)
6	g.64230696A>C	CA364391362	EYS	c.6320T>G (p.Val2107Gly)
6	g.64230696A>G	CA364391363	EYS	c.6320T>C (p.Val2107Ala)
6	g.64230696A>T	CA364391364	EYS	c.6320T>A (p.Val2107Glu)
6	g.64230697C>A	CA364391365	EYS	c.6319G>T (p.Val2107Leu)
6	g.64230697C=	CA1633626663	EYS	c.6319G= (p.Val2107=)
6	g.64230697C>G	CA364391366	EYS	c.6319G>C (p.Val2107Leu)
6	g.64230697C>T	CA364391367	EYS	c.6319G>A (p.Val2107Ile)	dbSNP gnomAD v4
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

Number of alleles fetched