Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
Y	g.641051C>T	CA2467802748		c.597C>T (p.Tyr199=)	dbSNP
Y	g.641051C>G	CA254910		c.597C>G (p.Tyr199Ter)	dbSNP
X	g.641051C>G	CA254909	SHOX	c.597C>G (p.Tyr199Ter)	ClinVar dbSNP
X	g.641051C>T	CA10330070	SHOX	c.597C>T (p.Tyr199=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched