| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33432724C>T | CA144638 | SYNGAP1 | c.169C>T (p.Arg57Ter) c.427C>T (p.Arg143Ter) c.250C>T (p.Arg84Ter) c.382C>T (p.Arg128Ter) n.622C>T | ClinVar dbSNP |
| 6 | g.33432724C= | CA1620010186 | SYNGAP1 | c.169C= (p.Arg57=) c.427C= (p.Arg143=) c.250C= (p.Arg84=) c.382C= (p.Arg128=) n.622C= | dbSNP |