| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.92927289C>T | CA16042919 | CHD2 | c.340C>T (p.Arg114Ter) c.46C>T (p.Arg16Ter) n.912C>T n.321C>T c.379C>T (p.Arg127Ter) n.306C>T n.532C>T | ClinVar dbSNP |
| 15 | g.92927289C= | CA2196348918 | CHD2 | c.340C= (p.Arg114=) c.46C= (p.Arg16=) n.912C= n.321C= c.379C= (p.Arg127=) n.306C= n.532C= | dbSNP |