| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421517G>A | CA284671 | DES | n.675G>A n.589G>A c.1201G>A (p.Glu401Lys) n.673G>A n.596G>A c.1198G>A (p.Glu400Lys) c.769G>A (p.Glu257Lys) c.1132G>A (p.Glu378Lys) c.1180G>A (p.Glu394Lys) c.931G>A (p.Glu311Lys) | ClinVar dbSNP |
| 2 | g.219421517G= | CA1329211333 | DES | n.675G= n.589G= c.1201G= (p.Glu401=) n.673G= n.596G= c.1198G= (p.Glu400=) c.769G= (p.Glu257=) c.1132G= (p.Glu378=) c.1180G= (p.Glu394=) c.931G= (p.Glu311=) | dbSNP |