Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64230597del	CA2679283465	EYS	c.6423del (p.Asp2142MetfsTer15)	gnomAD v4
6	g.64230594T>A	CA364391136	EYS	c.6422A>T (p.Lys2141Ile)
6	g.64230594T>C	CA364391137	EYS	c.6422A>G (p.Lys2141Arg)
6	g.64230594T>G	CA364391138	EYS	c.6422A>C (p.Lys2141Thr)
6	g.64230595T>A	CA364391139	EYS	c.6421A>T (p.Lys2141Ter)
6	g.64230595T>C	CA364391140	EYS	c.6421A>G (p.Lys2141Glu)
6	g.64230595T>G	CA364391141	EYS	c.6421A>C (p.Lys2141Gln)
6	g.64230596T>A	CA364391142	EYS	c.6420A>T (p.Glu2140Asp)
6	g.64230596T>C	CA450758747	EYS	c.6420A>G (p.Glu2140=)
6	g.64230596T>G	CA364391143	EYS	c.6420A>C (p.Glu2140Asp)
6	g.64230597T>A	CA364391146	EYS	c.6419A>T (p.Glu2140Val)
6	g.64230597T>C	CA364391145	EYS	c.6419A>G (p.Glu2140Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64230597T>G	CA364391144	EYS	c.6419A>C (p.Glu2140Ala)
6	g.64230597T=	CA1633626626	EYS	c.6419A= (p.Glu2140=)
6	g.64230597_64230598del	CA2578660041	EYS	c.6418_6419del (p.Glu2140LysfsTer30)
6	g.64230598C>A	CA364391147	EYS	c.6418G>T (p.Glu2140Ter)
6	g.64230598C>G	CA364391149	EYS	c.6418G>C (p.Glu2140Gln)
6	g.64230598C>T	CA364391148	EYS	c.6418G>A (p.Glu2140Lys)	COSMIC
6	g.64230599A>C	CA364391150	EYS	c.6417T>G (p.Cys2139Trp)
6	g.64230599A>G	CA450758748	EYS	c.6417T>C (p.Cys2139=)
6	g.64230599A>T	CA364391151	EYS	c.6417T>A (p.Cys2139Ter)
6	g.64230600C>A	CA364391152	EYS	c.6416G>T (p.Cys2139Phe)
6	g.64230600C=	CA1633626627	EYS	c.6416G= (p.Cys2139=)
6	g.64230600C>G	CA364391153	EYS	c.6416G>C (p.Cys2139Ser)
6	g.64230600C>T	CA199162	EYS	c.6416G>A (p.Cys2139Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230601A=	CA1633626628	EYS	c.6415T= (p.Cys2139=)
6	g.64230601A>C	CA364391154	EYS	c.6415T>G (p.Cys2139Gly)
6	g.64230601A>G	CA364391155	EYS	c.6415T>C (p.Cys2139Arg)	ClinVar dbSNP
6	g.64230601A>T	CA364391156	EYS	c.6415T>A (p.Cys2139Ser)
6	g.64230601_64230612del	CA2679283466	EYS	c.6404_6415del (p.Thr2135_Cys2139delinsSer)	ClinVar gnomAD v4
6	g.64230602G>A	CA450758749	EYS	c.6414C>T (p.Phe2138=)	ClinVar gnomAD v4
6	g.64230602G>C	CA364391157	EYS	c.6414C>G (p.Phe2138Leu)
6	g.64230602G>T	CA364391158	EYS	c.6414C>A (p.Phe2138Leu)
6	g.64230603A>C	CA364391161	EYS	c.6413T>G (p.Phe2138Cys)
6	g.64230603A>G	CA364391160	EYS	c.6413T>C (p.Phe2138Ser)	gnomAD v4
6	g.64230603A>T	CA364391159	EYS	c.6413T>A (p.Phe2138Tyr)
6	g.64230604A=	CA1633626629	EYS	c.6412T= (p.Phe2138=)
6	g.64230604A>C	CA364391162	EYS	c.6412T>G (p.Phe2138Val)
6	g.64230604A>G	CA364391163	EYS	c.6412T>C (p.Phe2138Leu)	dbSNP gnomAD v2 gnomAD v4
6	g.64230604A>T	CA364391164	EYS	c.6412T>A (p.Phe2138Ile)
6	g.64230605G>A	CA450758752	EYS	c.6411C>T (p.Arg2137=)
6	g.64230605G>C	CA450758751	EYS	c.6411C>G (p.Arg2137=)
6	g.64230605G>T	CA450758750	EYS	c.6411C>A (p.Arg2137=)
6	g.64230606C>A	CA364391165	EYS	c.6410G>T (p.Arg2137Leu)	gnomAD v4
6	g.64230606C=	CA1633626630	EYS	c.6410G= (p.Arg2137=)
6	g.64230606C>G	CA364391166	EYS	c.6410G>C (p.Arg2137Pro)
6	g.64230606C>T	CA140296089	EYS	c.6410G>A (p.Arg2137His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230607G>A	CA3876922	EYS	c.6409C>T (p.Arg2137Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230607G>C	CA364391167	EYS	c.6409C>G (p.Arg2137Gly)
6	g.64230607G=	CA1633626631	EYS	c.6409C= (p.Arg2137=)

Number of alleles fetched