| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33441612G>A | CA16611900 | SYNGAP1,SYNGAP1-AS1 | c.1889G>A (p.Arg630Gln) c.2147G>A (p.Arg716Gln) c.*544G>A (n.*544G>A) c.1970G>A (p.Arg657Gln) c.2102G>A (p.Arg701Gln) n.330-4131C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33441612G= | CA1620013880 | SYNGAP1,SYNGAP1-AS1 | c.1889G= (p.Arg630=) c.2147G= (p.Arg716=) c.*544G= (n.*544G=) c.1970G= (p.Arg657=) c.2102G= (p.Arg701=) n.330-4131C= | dbSNP |