| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32159074C>T | CA251607 | GPD1L | c.817C>T (p.Arg273Cys) c.*444C>T (n.*444C>T) n.741C>T n.318C>T c.619-494C>T (n.619-494C>T) c.676C>T (p.Arg226Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32159074C= | CA1355582264 | GPD1L | c.817C= (p.Arg273=) c.*444C= (n.*444C=) n.741C= n.318C= c.619-494C= (n.619-494C=) c.676C= (p.Arg226=) | dbSNP |