| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33440769C>T | CA16618280 | SYNGAP1,SYNGAP1-AS1 | c.1459C>T (p.Arg487Trp) c.1717C>T (p.Arg573Trp) c.*114C>T (n.*114C>T) c.1540C>T (p.Arg514Trp) c.1672C>T (p.Arg558Trp) n.330-3288G>A | ClinVar dbSNP COSMIC COSMIC |
| 6 | g.33440769C>A | CA450107860 | SYNGAP1,SYNGAP1-AS1 | c.1459C>A (p.Arg487=) c.1717C>A (p.Arg573=) c.*114C>A (n.*114C>A) c.1540C>A (p.Arg514=) c.1672C>A (p.Arg558=) n.330-3288G>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.33440769C= | CA1620013508 | SYNGAP1,SYNGAP1-AS1 | c.1459C= (p.Arg487=) c.1717C= (p.Arg573=) c.*114C= (n.*114C=) c.1540C= (p.Arg514=) c.1672C= (p.Arg558=) n.330-3288G= | dbSNP |