Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.65057621T>A	CA450765805	EYS	c.2130A>T (p.Pro710=)	COSMIC
6	g.65057621T>C	CA450765806	EYS	c.2130A>G (p.Pro710=)	ClinVar gnomAD v4
6	g.65057621T>G	CA450765807	EYS	c.2130A>C (p.Pro710=)
6	g.65057622G>A	CA364787367	EYS	c.2129C>T (p.Pro710Leu)
6	g.65057622G>C	CA364787369	EYS	c.2129C>G (p.Pro710Arg)
6	g.65057622G=	CA1634036127	EYS	c.2129C= (p.Pro710=)
6	g.65057622G>T	CA364787371	EYS	c.2129C>A (p.Pro710Gln)	dbSNP gnomAD v2 gnomAD v4
6	g.65057623G>A	CA364787379	EYS	c.2128C>T (p.Pro710Ser)	gnomAD v4
6	g.65057623G>C	CA364787373	EYS	c.2128C>G (p.Pro710Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.65057623G=	CA1634036128	EYS	c.2128C= (p.Pro710=)
6	g.65057623G>T	CA364787377	EYS	c.2128C>A (p.Pro710Thr)
6	g.65057624del	CA2679288048	EYS	c.2127del (p.Pro710HisfsTer19)	gnomAD v4
6	g.65057624A=	CA1634036131	EYS	c.2127T= (p.Pro709=)
6	g.65057624A>C	CA450765808	EYS	c.2127T>G (p.Pro709=)
6	g.65057624A>G	CA450765809	EYS	c.2127T>C (p.Pro709=)	gnomAD v4
6	g.65057624A>T	CA450765810	EYS	c.2127T>A (p.Pro709=)	dbSNP gnomAD v2 gnomAD v4
6	g.65057625G>A	CA364787381	EYS	c.2126C>T (p.Pro709Leu)
6	g.65057625G>C	CA364787384	EYS	c.2126C>G (p.Pro709Arg)
6	g.65057625G>T	CA364787386	EYS	c.2126C>A (p.Pro709His)	gnomAD v4
6	g.65057626del	CA450765811	EYS	c.2126del (p.Pro709LeufsTer20)	COSMIC
6	g.65057626G>A	CA364787388	EYS	c.2125C>T (p.Pro709Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.65057626G>C	CA364787391	EYS	c.2125C>G (p.Pro709Ala)
6	g.65057626G=	CA1634036134	EYS	c.2125C= (p.Pro709=)
6	g.65057626G>T	CA364787393	EYS	c.2125C>A (p.Pro709Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.65057627C>A	CA450765812	EYS	c.2124G>T (p.Val708=)
6	g.65057627C>G	CA450765814	EYS	c.2124G>C (p.Val708=)
6	g.65057627C>T	CA450765813	EYS	c.2124G>A (p.Val708=)	ClinVar dbSNP
6	g.65057628A=	CA1634036140	EYS	c.2123T= (p.Val708=)
6	g.65057628A>C	CA364787410	EYS	c.2123T>G (p.Val708Gly)
6	g.65057628A>G	CA364787413	EYS	c.2123T>C (p.Val708Ala)	dbSNP gnomAD v3 gnomAD v4
6	g.65057628A>T	CA364787415	EYS	c.2123T>A (p.Val708Glu)
6	g.65057629C>A	CA364787418	EYS	c.2122G>T (p.Val708Leu)
6	g.65057629C>G	CA364787420	EYS	c.2122G>C (p.Val708Leu)
6	g.65057629C>T	CA364787422	EYS	c.2122G>A (p.Val708Met)
6	g.65057630A>C	CA364787427	EYS	c.2121T>G (p.Cys707Trp)
6	g.65057630A>G	CA450765815	EYS	c.2121T>C (p.Cys707=)
6	g.65057630A>T	CA364787424	EYS	c.2121T>A (p.Cys707Ter)
6	g.65057631C>A	CA364787431	EYS	c.2120G>T (p.Cys707Phe)
6	g.65057631C>G	CA364787433	EYS	c.2120G>C (p.Cys707Ser)
6	g.65057631C>T	CA364787435	EYS	c.2120G>A (p.Cys707Tyr)
6	g.65057632A>C	CA364787439	EYS	c.2119T>G (p.Cys707Gly)
6	g.65057632A>G	CA364787441	EYS	c.2119T>C (p.Cys707Arg)	gnomAD v4
6	g.65057632A>T	CA364787442	EYS	c.2119T>A (p.Cys707Ser)
6	g.65057633C>A	CA364787446	EYS	c.2118G>T (p.Gln706His)
6	g.65057633C>G	CA364787448	EYS	c.2118G>C (p.Gln706His)
6	g.65057633C>T	CA450765816	EYS	c.2118G>A (p.Gln706=)
6	g.65057634T>A	CA364787450	EYS	c.2117A>T (p.Gln706Leu)
6	g.65057634T>C	CA364787452	EYS	c.2117A>G (p.Gln706Arg)
6	g.65057634T>G	CA364787454	EYS	c.2117A>C (p.Gln706Pro)
6	g.65057635G>A	CA364787458	EYS	c.2116C>T (p.Gln706Ter)	gnomAD v4

Number of alleles fetched