| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33437827T>C | CA16605532 | SYNGAP1,SYNGAP1-AS1 | c.664T>C (p.Trp222Arg) c.922T>C (p.Trp308Arg) c.745T>C (p.Trp249Arg) c.877T>C (p.Trp293Arg) n.1117T>C n.330-346A>G | ClinVar dbSNP |
| 6 | g.33437827T= | CA1620012264 | SYNGAP1,SYNGAP1-AS1 | c.664T= (p.Trp222=) c.922T= (p.Trp308=) c.745T= (p.Trp249=) c.877T= (p.Trp293=) n.1117T= n.330-346A= | dbSNP |