Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64591380G>A	CA364783213	EYS	c.4487C>T (p.Pro1496Leu)
6	g.64591380G>C	CA364783214	EYS	c.4487C>G (p.Pro1496Arg)
6	g.64591380G>T	CA364783215	EYS	c.4487C>A (p.Pro1496His)
6	g.64591381G>A	CA364783216	EYS	c.4486C>T (p.Pro1496Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.64591381G>C	CA364783217	EYS	c.4486C>G (p.Pro1496Ala)
6	g.64591381G=	CA1633809379	EYS	c.4486C= (p.Pro1496=)
6	g.64591381G>T	CA364783218	EYS	c.4486C>A (p.Pro1496Thr)
6	g.64591382A>C	CA364783219	EYS	c.4485T>G (p.Phe1495Leu)
6	g.64591382A>G	CA450862962	EYS	c.4485T>C (p.Phe1495=)
6	g.64591382A>T	CA364783220	EYS	c.4485T>A (p.Phe1495Leu)
6	g.64591383A>C	CA364783221	EYS	c.4484T>G (p.Phe1495Cys)
6	g.64591383A>G	CA364783222	EYS	c.4484T>C (p.Phe1495Ser)
6	g.64591383A>T	CA364783223	EYS	c.4484T>A (p.Phe1495Tyr)
6	g.64591384A>C	CA364783225	EYS	c.4483T>G (p.Phe1495Val)
6	g.64591384A>G	CA364783226	EYS	c.4483T>C (p.Phe1495Leu)
6	g.64591384A>T	CA364783224	EYS	c.4483T>A (p.Phe1495Ile)
6	g.64591385A>C	CA364783227	EYS	c.4482T>G (p.Ile1494Met)
6	g.64591385A>G	CA450862975	EYS	c.4482T>C (p.Ile1494=)
6	g.64591385A>T	CA450862976	EYS	c.4482T>A (p.Ile1494=)	ClinVar
6	g.64591386A>C	CA364783228	EYS	c.4481T>G (p.Ile1494Ser)
6	g.64591386A>G	CA364783229	EYS	c.4481T>C (p.Ile1494Thr)
6	g.64591386A>T	CA364783230	EYS	c.4481T>A (p.Ile1494Asn)
6	g.64591387T>A	CA364783233	EYS	c.4480A>T (p.Ile1494Phe)
6	g.64591387T>C	CA364783232	EYS	c.4480A>G (p.Ile1494Val)
6	g.64591387T>G	CA364783231	EYS	c.4480A>C (p.Ile1494Leu)
6	g.64591388G>A	CA450862979	EYS	c.4479C>T (p.Pro1493=)	dbSNP
6	g.64591388G>C	CA450862980	EYS	c.4479C>G (p.Pro1493=)
6	g.64591388G=	CA1633809380	EYS	c.4479C= (p.Pro1493=)
6	g.64591388G>T	CA450862981	EYS	c.4479C>A (p.Pro1493=)
6	g.64591389G>A	CA3877077	EYS	c.4478C>T (p.Pro1493Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64591389G>C	CA364783234	EYS	c.4478C>G (p.Pro1493Arg)
6	g.64591389G=	CA1633809381	EYS	c.4478C= (p.Pro1493=)
6	g.64591389G>T	CA364783235	EYS	c.4478C>A (p.Pro1493His)
6	g.64591390G>A	CA364783236	EYS	c.4477C>T (p.Pro1493Ser)
6	g.64591390G>C	CA364783237	EYS	c.4477C>G (p.Pro1493Ala)	gnomAD v4
6	g.64591390G>T	CA364783238	EYS	c.4477C>A (p.Pro1493Thr)	ClinVar dbSNP
6	g.64591391A>C	CA450862991	EYS	c.4476T>G (p.Ser1492=)
6	g.64591391A>G	CA450862992	EYS	c.4476T>C (p.Ser1492=)
6	g.64591391A>T	CA450862993	EYS	c.4476T>A (p.Ser1492=)
6	g.64591392G>A	CA364783241	EYS	c.4475C>T (p.Ser1492Phe)
6	g.64591392G>C	CA364783239	EYS	c.4475C>G (p.Ser1492Cys)
6	g.64591392G>T	CA364783240	EYS	c.4475C>A (p.Ser1492Tyr)
6	g.64591393A>C	CA364783242	EYS	c.4474T>G (p.Ser1492Ala)
6	g.64591393A>G	CA364783243	EYS	c.4474T>C (p.Ser1492Pro)
6	g.64591393A>T	CA364783244	EYS	c.4474T>A (p.Ser1492Thr)
6	g.64591394C>A	CA364783245	EYS	c.4473G>T (p.Met1491Ile)
6	g.64591394C>G	CA364783246	EYS	c.4473G>C (p.Met1491Ile)
6	g.64591394C>T	CA364783247	EYS	c.4473G>A (p.Met1491Ile)	ClinVar gnomAD v4
6	g.64591395A>C	CA364783248	EYS	c.4472T>G (p.Met1491Arg)
6	g.64591395A>G	CA364783249	EYS	c.4472T>C (p.Met1491Thr)

Number of alleles fetched