Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.44827617C>A	CA340096674	PTCH2	c.2156G>T (p.Arg719Leu)	dbSNP gnomAD v4
1	g.44827617C>G	CA340096675	PTCH2	c.2156G>C (p.Arg719Pro)	dbSNP
1	g.44827617C>T	CA253781	PTCH2	c.2156G>A (p.Arg719Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched