| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.92949036C>T | CA16042920 | CHD2 | c.969C>T c.410C>T c.1462C>T (p.Gln488Ter) c.*293C>T (n.*293C>T) c.1168C>T (p.Gln390Ter) n.2034C>T c.833C>T n.1443C>T c.794C>T (n.794C>T) c.1501C>T (p.Gln501Ter) c.414C>T n.4305C>T | ClinVar dbSNP |
| 15 | g.92949036C= | CA2196359842 | CHD2 | c.969C= c.410C= c.1462C= (p.Gln488=) c.*293C= (n.*293C=) c.1168C= (p.Gln390=) n.2034C= c.833C= n.1443C= c.794C= (n.794C=) c.1501C= (p.Gln501=) c.414C= n.4305C= | dbSNP |