| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33440737C>T | CA130846 | SYNGAP1,SYNGAP1-AS1 | c.1427C>T (p.Pro476Leu) c.1685C>T (p.Pro562Leu) c.*82C>T (n.*82C>T) c.1508C>T (p.Pro503Leu) c.1640C>T (p.Pro547Leu) n.330-3256G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.33440737C= | CA1620013490 | SYNGAP1,SYNGAP1-AS1 | c.1427C= (p.Pro476=) c.1685C= (p.Pro562=) c.*82C= (n.*82C=) c.1508C= (p.Pro503=) c.1640C= (p.Pro547=) n.330-3256G= | dbSNP |