| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33432787C>T | CA16042666 | SYNGAP1 | c.232C>T (p.Arg78Ter) c.490C>T (p.Arg164Ter) c.313C>T (p.Arg105Ter) c.445C>T (p.Arg149Ter) n.685C>T | ClinVar dbSNP COSMIC COSMIC |
| 6 | g.33432787C= | CA1620010210 | SYNGAP1 | c.232C= (p.Arg78=) c.490C= (p.Arg164=) c.313C= (p.Arg105=) c.445C= (p.Arg149=) n.685C= | dbSNP |