| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33440768G>A | CA16042674 | SYNGAP1,SYNGAP1-AS1 | c.1458G>A (p.Trp486Ter) c.1716G>A (p.Trp572Ter) c.*113G>A (n.*113G>A) c.1539G>A (p.Trp513Ter) c.1671G>A (p.Trp557Ter) n.330-3287C>T | ClinVar dbSNP |
| 6 | g.33440768G= | CA1620013507 | SYNGAP1,SYNGAP1-AS1 | c.1458G= (p.Trp486=) c.1716G= (p.Trp572=) c.*113G= (n.*113G=) c.1539G= (p.Trp513=) c.1671G= (p.Trp557=) n.330-3287C= | dbSNP |