| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60838129T>G | CA16618669 | CHD7 | c.4407T>G (p.Tyr1469Ter) c.1717-24100T>G (n.1717-24100T>G) c.2394T>G (p.Tyr798Ter) c.1944T>G (p.Tyr648Ter) c.1152T>G (p.Tyr384Ter) | ClinVar dbSNP |
| 8 | g.60838129T= | CA1788116094 | CHD7 | c.4407T= (p.Tyr1469=) c.1717-24100T= (n.1717-24100T=) c.2394T= (p.Tyr798=) c.1944T= (p.Tyr648=) c.1152T= (p.Tyr384=) | dbSNP |