Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.32159096C>T | CA334813 | GPD1L | c.839C>T (p.Ala280Val) c.*466C>T (n.*466C>T) n.763C>T n.340C>T c.619-472C>T (n.619-472C>T) c.698C>T (p.Ala233Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.32159096C= | CA1355582279 | GPD1L | c.839C= (p.Ala280=) c.*466C= (n.*466C=) n.763C= n.340C= c.619-472C= (n.619-472C=) c.698C= (p.Ala233=) | dbSNP |