Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47624401G>A | CA10398821 | CFP | c.1284C>T (p.Asn428=) n.1522C>T n.405C>T c.879C>T (p.Asn293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47624401G= | CA2427987828 | CFP | c.1284C= (p.Asn428=) n.1522C= n.405C= c.879C= (p.Asn293=) | dbSNP |