| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60822638G>C | CA16612341 | CHD7 | c.3093G>C (p.Trp1031Cys) c.1717-39591G>C (n.1717-39591G>C) c.1080G>C (p.Trp360Cys) c.630G>C (p.Trp210Cys) | ClinVar dbSNP |
| 8 | g.60822638G= | CA1788144695 | CHD7 | c.3093G= (p.Trp1031=) c.1717-39591G= (n.1717-39591G=) c.1080G= (p.Trp360=) c.630G= (p.Trp210=) | dbSNP |