| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33440787C>T | CA118188 | SYNGAP1,SYNGAP1-AS1 | c.1477C>T (p.Arg493Ter) c.1735C>T (p.Arg579Ter) c.*132C>T (n.*132C>T) c.1558C>T (p.Arg520Ter) c.1690C>T (p.Arg564Ter) n.330-3306G>A | ClinVar dbSNP |
| 6 | g.33440787C>G | CA363692889 | SYNGAP1,SYNGAP1-AS1 | c.1477C>G (p.Arg493Gly) c.1735C>G (p.Arg579Gly) c.*132C>G (n.*132C>G) c.1558C>G (p.Arg520Gly) c.1690C>G (p.Arg564Gly) n.330-3306G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33440787C= | CA1620013519 | SYNGAP1,SYNGAP1-AS1 | c.1477C= (p.Arg493=) c.1735C= (p.Arg579=) c.*132C= (n.*132C=) c.1558C= (p.Arg520=) c.1690C= (p.Arg564=) n.330-3306G= | dbSNP |