Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20188986G>A	CA274470	GJB2	c.596C>T (p.Ser199Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188986G>C	CA387460828	GJB2	c.596C>G (p.Ser199Cys)	dbSNP gnomAD v4
13	g.20188986G=	CA2077138762	GJB2	c.596C= (p.Ser199=)	dbSNP

Number of alleles fetched