| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33446710C>T | CA358213 | SYNGAP1,SYNGAP1-AS1 | c.3460C>T (p.Arg1154Ter) c.3718C>T (p.Arg1240Ter) c.3670C>T (p.Arg1224Ter) c.3541C>T (p.Arg1181Ter) c.3673C>T (p.Arg1225Ter) n.225G>A | ClinVar dbSNP |
| 6 | g.33446710C= | CA1620016971 | SYNGAP1,SYNGAP1-AS1 | c.3460C= (p.Arg1154=) c.3718C= (p.Arg1240=) c.3670C= (p.Arg1224=) c.3541C= (p.Arg1181=) c.3673C= (p.Arg1225=) n.225G= | dbSNP |