| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60822604T>C | CA16605400 | CHD7 | c.3059T>C (p.Leu1020Ser) c.1717-39625T>C (n.1717-39625T>C) c.1046T>C (p.Leu349Ser) c.596T>C (p.Leu199Ser) | ClinVar dbSNP |
| 8 | g.60822604T= | CA1788144605 | CHD7 | c.3059T= (p.Leu1020=) c.1717-39625T= (n.1717-39625T=) c.1046T= (p.Leu349=) c.596T= (p.Leu199=) | dbSNP |