| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33432769C>T | CA363680770 | SYNGAP1 | c.214C>T (p.Gln72Ter) c.472C>T (p.Gln158Ter) c.295C>T (p.Gln99Ter) c.427C>T (p.Gln143Ter) n.667C>T | ClinVar dbSNP |
| 6 | g.33432769C= | CA1620010205 | SYNGAP1 | c.214C= (p.Gln72=) c.472C= (p.Gln158=) c.295C= (p.Gln99=) c.427C= (p.Gln143=) n.667C= | dbSNP |