| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219425707A>G | CA284676 | DES | n.807A>G n.721A>G c.1333A>G (p.Thr445Ala) n.188A>G c.1330A>G (p.Thr444Ala) c.901A>G (p.Thr301Ala) c.1264A>G (p.Thr422Ala) c.1312A>G (p.Thr438Ala) c.1063A>G (p.Thr355Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425707A= | CA1329213119 | DES | n.807A= n.721A= c.1333A= (p.Thr445=) n.188A= c.1330A= (p.Thr444=) c.901A= (p.Thr301=) c.1264A= (p.Thr422=) c.1312A= (p.Thr438=) c.1063A= (p.Thr355=) | dbSNP |