| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60836915T>A | CA16618668 | CHD7 | c.4088T>A (p.Leu1363His) c.1717-25314T>A (n.1717-25314T>A) c.2075T>A (p.Leu692His) c.1625T>A (p.Leu542His) c.833T>A (p.Leu278His) | ClinVar dbSNP |
| 8 | g.60836915T= | CA1788113966 | CHD7 | c.4088T= (p.Leu1363=) c.1717-25314T= (n.1717-25314T=) c.2075T= (p.Leu692=) c.1625T= (p.Leu542=) c.833T= (p.Leu278=) | dbSNP |