| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60850506C>G | CA252053 | CHD7 | c.5418C>G (p.Tyr1806Ter) c.1717-11723C>G (n.1717-11723C>G) c.5508C>G (p.Tyr1836Ter) c.3495C>G (p.Tyr1165Ter) c.3045C>G (p.Tyr1015Ter) c.2253C>G (p.Tyr751Ter) | ClinVar dbSNP |
| 8 | g.60850506C= | CA1788137713 | CHD7 | c.5418C= (p.Tyr1806=) c.1717-11723C= (n.1717-11723C=) c.5508C= (p.Tyr1836=) c.3495C= (p.Tyr1165=) c.3045C= (p.Tyr1015=) c.2253C= (p.Tyr751=) | dbSNP |