Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189047C>G	CA387460951	GJB2	c.535G>C (p.Asp179His)	ClinVar dbSNP gnomAD v4
13	g.20189047C>T	CA257681	GJB2	c.535G>A (p.Asp179Asn)	ClinVar dbSNP
13	g.20189047C>A	CA6904242	GJB2	c.535G>T (p.Asp179Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched