Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64230796C>A	CA364391585	EYS	c.6220G>T (p.Ala2074Ser)
6	g.64230796C=	CA1633626704	EYS	c.6220G= (p.Ala2074=)
6	g.64230796C>G	CA364391587	EYS	c.6220G>C (p.Ala2074Pro)
6	g.64230796C>T	CA364391586	EYS	c.6220G>A (p.Ala2074Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.64230797T>A	CA450758889	EYS	c.6219A>T (p.Thr2073=)
6	g.64230797T>C	CA450758888	EYS	c.6219A>G (p.Thr2073=)
6	g.64230797T>G	CA450758887	EYS	c.6219A>C (p.Thr2073=)
6	g.64230798G>A	CA364391588	EYS	c.6218C>T (p.Thr2073Ile)
6	g.64230798G>C	CA364391589	EYS	c.6218C>G (p.Thr2073Arg)
6	g.64230798G>T	CA364391590	EYS	c.6218C>A (p.Thr2073Lys)
6	g.64230798_64230799insGAAGAGCAGGGATGAATCAGA	CA2771469814	EYS	c.6217_6218insTCTGATTCATCCCTGCTCTTC (p.Thr2073IlefsTer2)
6	g.64230799T>A	CA364391591	EYS	c.6217A>T (p.Thr2073Ser)
6	g.64230799T>C	CA364391592	EYS	c.6217A>G (p.Thr2073Ala)
6	g.64230799T>G	CA364391593	EYS	c.6217A>C (p.Thr2073Pro)
6	g.64230800T>A	CA450758890	EYS	c.6216A>T (p.Pro2072=)
6	g.64230800T>C	CA450758891	EYS	c.6216A>G (p.Pro2072=)
6	g.64230800T>G	CA450758892	EYS	c.6216A>C (p.Pro2072=)
6	g.64230800_64230802del	CA2771469815	EYS	c.6214_6216del (p.Pro2072del)
6	g.64230801G>A	CA364391594	EYS	c.6215C>T (p.Pro2072Leu)	gnomAD v4
6	g.64230801G>C	CA364391595	EYS	c.6215C>G (p.Pro2072Arg)
6	g.64230801G>T	CA364391596	EYS	c.6215C>A (p.Pro2072Gln)
6	g.64230802G>A	CA364391597	EYS	c.6214C>T (p.Pro2072Ser)
6	g.64230802G>C	CA364391598	EYS	c.6214C>G (p.Pro2072Ala)	ClinVar dbSNP gnomAD v4
6	g.64230802G=	CA1633626705	EYS	c.6214C= (p.Pro2072=)
6	g.64230802G>T	CA364391599	EYS	c.6214C>A (p.Pro2072Thr)
6	g.64230803A>C	CA450758893	EYS	c.6213T>G (p.Ser2071=)
6	g.64230803A>G	CA450758895	EYS	c.6213T>C (p.Ser2071=)	ClinVar
6	g.64230803A>T	CA450758894	EYS	c.6213T>A (p.Ser2071=)
6	g.64230804G>A	CA364391602	EYS	c.6212C>T (p.Ser2071Phe)
6	g.64230804G>C	CA364391600	EYS	c.6212C>G (p.Ser2071Cys)
6	g.64230804G>T	CA364391601	EYS	c.6212C>A (p.Ser2071Tyr)
6	g.64230805A>C	CA364391603	EYS	c.6211T>G (p.Ser2071Ala)
6	g.64230805A>G	CA364391604	EYS	c.6211T>C (p.Ser2071Pro)
6	g.64230805A>T	CA364391605	EYS	c.6211T>A (p.Ser2071Thr)
6	g.64230806C>A	CA450758896	EYS	c.6210G>T (p.Leu2070=)
6	g.64230806C=	CA1633626706	EYS	c.6210G= (p.Leu2070=)
6	g.64230806C>G	CA450758897	EYS	c.6210G>C (p.Leu2070=)
6	g.64230806C>T	CA450758898	EYS	c.6210G>A (p.Leu2070=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230807A=	CA1633626707	EYS	c.6209T= (p.Leu2070=)
6	g.64230807A>C	CA364391606	EYS	c.6209T>G (p.Leu2070Arg)
6	g.64230807A>G	CA364391607	EYS	c.6209T>C (p.Leu2070Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230807A>T	CA364391608	EYS	c.6209T>A (p.Leu2070Gln)
6	g.64230808G>A	CA450758899	EYS	c.6208C>T (p.Leu2070=)	gnomAD v4
6	g.64230808G>C	CA364391610	EYS	c.6208C>G (p.Leu2070Val)
6	g.64230808G>T	CA364391609	EYS	c.6208C>A (p.Leu2070Met)
6	g.64230809C>A	CA364391611	EYS	c.6207G>T (p.Met2069Ile)	gnomAD v4
6	g.64230809C>G	CA364391612	EYS	c.6207G>C (p.Met2069Ile)
6	g.64230809C>T	CA364391613	EYS	c.6207G>A (p.Met2069Ile)	gnomAD v4
6	g.64230809_64230811del	CA2578660043	EYS	c.6205_6207del (p.Met2069del)
6	g.64230810A>C	CA364391614	EYS	c.6206T>G (p.Met2069Arg)

Number of alleles fetched