| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21395036dup | CA10605091 | CHD8 | c.4429dup (p.Tyr1477LeufsTer26) c.2966dup c.*651dup (n.*651dup) c.5266dup (p.Tyr1756LeufsTer26) n.4422dup c.5272dup (p.Tyr1758LeufsTer26) n.1220dup | ClinVar dbSNP |
| 14 | g.21395036A= | CA3206826552 | CHD8 | c.4429T= (p.Tyr1477=) c.2966T= c.*651T= (n.*651T=) c.5266T= (p.Tyr1756=) n.4422T= c.5272T= (p.Tyr1758=) n.1220T= | dbSNP |