| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60822627A>G | CA223285 | CHD7 | c.3082A>G (p.Ile1028Val) c.1717-39602A>G (n.1717-39602A>G) c.1069A>G (p.Ile357Val) c.619A>G (p.Ile207Val) | ClinVar dbSNP |
| 8 | g.60822627A= | CA1788144658 | CHD7 | c.3082A= (p.Ile1028=) c.1717-39602A= (n.1717-39602A=) c.1069A= (p.Ile357=) c.619A= (p.Ile207=) | dbSNP |