Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.216250989C>G	CA344866378	USH2A	c.2081G>C (p.Cys694Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
1	g.216250989C>T	CA1396311	USH2A	c.2081G>A (p.Cys694Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched