| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33441318C>T | CA16612116 | SYNGAP1,SYNGAP1-AS1 | c.1801C>T (p.Arg601Ter) c.2059C>T (p.Arg687Ter) n.11C>T c.*456C>T (n.*456C>T) c.1882C>T (p.Arg628Ter) c.2014C>T (p.Arg672Ter) n.330-3837G>A | ClinVar dbSNP |
| 6 | g.33441318C= | CA1620013752 | SYNGAP1,SYNGAP1-AS1 | c.1801C= (p.Arg601=) c.2059C= (p.Arg687=) n.11C= c.*456C= (n.*456C=) c.1882C= (p.Arg628=) c.2014C= (p.Arg672=) n.330-3837G= | dbSNP |