| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37490442C>A | CA320483570 | DYRK1A | c.932C>A (p.Ser311Tyr) c.818C>A (p.Ser273Tyr) c.905C>A (p.Ser302Tyr) n.735C>A n.296C>A c.953C>A (p.Ser318Tyr) n.347C>A c.845C>A (p.Ser282Tyr) c.248C>A (p.Ser83Tyr) c.926C>A (p.Ser309Tyr) | dbSNP COSMIC |
| 21 | g.37490442C>T | CA16608057 | DYRK1A | c.932C>T (p.Ser311Phe) c.818C>T (p.Ser273Phe) c.905C>T (p.Ser302Phe) n.735C>T n.296C>T c.953C>T (p.Ser318Phe) n.347C>T c.845C>T (p.Ser282Phe) c.248C>T (p.Ser83Phe) c.926C>T (p.Ser309Phe) | ClinVar dbSNP COSMIC COSMIC |