Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.53686512T>G	CA8058046	RPGRIP1L	c.697A>C (p.Lys233Gln) n.740A>C n.729A>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.53686512T>A	CA251686	RPGRIP1L	c.697A>T (p.Lys233Ter) n.740A>T n.729A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched