Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64590556_64590566del	CA2739289897	EYS	c.5304_5314del (p.Asn1768LysfsTer2)
6	g.64590566del	CA2697553552	EYS	c.5303del (p.Asn1768MetfsTer10)	ClinVar
6	g.64590565T>A	CA364781395	EYS	c.5302A>T (p.Asn1768Tyr)
6	g.64590565T>C	CA364781396	EYS	c.5302A>G (p.Asn1768Asp)
6	g.64590565T>G	CA364781397	EYS	c.5302A>C (p.Asn1768His)
6	g.64590566T>A	CA450862614	EYS	c.5301A>T (p.Ala1767=)
6	g.64590566T>C	CA450862618	EYS	c.5301A>G (p.Ala1767=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64590566T>G	CA450862617	EYS	c.5301A>C (p.Ala1767=)
6	g.64590566T=	CA1633809027	EYS	c.5301A= (p.Ala1767=)
6	g.64590567G>A	CA364781398	EYS	c.5300C>T (p.Ala1767Val)
6	g.64590567G>C	CA364781400	EYS	c.5300C>G (p.Ala1767Gly)
6	g.64590567G>T	CA364781399	EYS	c.5300C>A (p.Ala1767Glu)
6	g.64590568C>A	CA364781401	EYS	c.5299G>T (p.Ala1767Ser)	dbSNP
6	g.64590568C=	CA1633809028	EYS	c.5299G= (p.Ala1767=)
6	g.64590568C>G	CA364781402	EYS	c.5299G>C (p.Ala1767Pro)
6	g.64590568C>T	CA364781403	EYS	c.5299G>A (p.Ala1767Thr)
6	g.64590569A>C	CA364781404	EYS	c.5298T>G (p.His1766Gln)
6	g.64590569A>G	CA450862620	EYS	c.5298T>C (p.His1766=)	dbSNP
6	g.64590569A>T	CA364781405	EYS	c.5298T>A (p.His1766Gln)
6	g.64590570T>A	CA364781408	EYS	c.5297A>T (p.His1766Leu)
6	g.64590570T>C	CA364781407	EYS	c.5297A>G (p.His1766Arg)	gnomAD v4
6	g.64590570T>G	CA364781406	EYS	c.5297A>C (p.His1766Pro)
6	g.64590571del	CA2499218450	EYS	c.5296del (p.His1766MetfsTer12)	ClinVar dbSNP
6	g.64590571G>A	CA140340890	EYS	c.5296C>T (p.His1766Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64590571G>C	CA364781409	EYS	c.5296C>G (p.His1766Asp)	dbSNP
6	g.64590571G=	CA1633809029	EYS	c.5296C= (p.His1766=)
6	g.64590571G>T	CA364781410	EYS	c.5296C>A (p.His1766Asn)
6	g.64590572T>A	CA450862629	EYS	c.5295A>T (p.Thr1765=)
6	g.64590572T>C	CA450862627	EYS	c.5295A>G (p.Thr1765=)
6	g.64590572T>G	CA450862626	EYS	c.5295A>C (p.Thr1765=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64590572T=	CA1633809030	EYS	c.5295A= (p.Thr1765=)
6	g.64590573G>A	CA364781411	EYS	c.5294C>T (p.Thr1765Ile)
6	g.64590573G>C	CA364781412	EYS	c.5294C>G (p.Thr1765Arg)
6	g.64590573G>T	CA364781413	EYS	c.5294C>A (p.Thr1765Lys)
6	g.64590574T>A	CA364781414	EYS	c.5293A>T (p.Thr1765Ser)
6	g.64590574T>C	CA140340891	EYS	c.5293A>G (p.Thr1765Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64590574T>G	CA364781415	EYS	c.5293A>C (p.Thr1765Pro)	gnomAD v4
6	g.64590574T=	CA1633809031	EYS	c.5293A= (p.Thr1765=)
6	g.64590575A>C	CA364781416	EYS	c.5292T>G (p.Ile1764Met)
6	g.64590575A>G	CA450862633	EYS	c.5292T>C (p.Ile1764=)	ClinVar gnomAD v4 COSMIC
6	g.64590575A>T	CA450862634	EYS	c.5292T>A (p.Ile1764=)
6	g.64590575_64590576insT	CA140340892	EYS	c.5291_5292insA (p.Thr1765TyrfsTer5)
6	g.64590576A=	CA1633809032	EYS	c.5291T= (p.Ile1764=)
6	g.64590576A>C	CA364781417	EYS	c.5291T>G (p.Ile1764Ser)
6	g.64590576A>G	CA140340893	EYS	c.5291T>C (p.Ile1764Thr)	dbSNP gnomAD v3 gnomAD v4
6	g.64590576A>T	CA364781418	EYS	c.5291T>A (p.Ile1764Asn)
6	g.64590577T>A	CA364781419	EYS	c.5290A>T (p.Ile1764Phe)
6	g.64590577T>C	CA364781420	EYS	c.5290A>G (p.Ile1764Val)
6	g.64590577T>G	CA364781421	EYS	c.5290A>C (p.Ile1764Leu)
6	g.64590579dup	CA3877026	EYS	c.5290dup (p.Ile1764AsnfsTer6)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched