| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33440815T>A | CA16618281 | SYNGAP1,SYNGAP1-AS1 | c.1505T>A (p.Leu502His) c.1763T>A (p.Leu588His) c.*160T>A (n.*160T>A) c.1586T>A (p.Leu529His) c.1718T>A (p.Leu573His) n.330-3334A>T | ClinVar dbSNP |
| 6 | g.33440815T= | CA1620013533 | SYNGAP1,SYNGAP1-AS1 | c.1505T= (p.Leu502=) c.1763T= (p.Leu588=) c.*160T= (n.*160T=) c.1586T= (p.Leu529=) c.1718T= (p.Leu573=) n.330-3334A= | dbSNP |
| 6 | g.33440815T>C | CA363693142 | SYNGAP1,SYNGAP1-AS1 | c.1505T>C (p.Leu502Pro) c.1763T>C (p.Leu588Pro) c.*160T>C (n.*160T>C) c.1586T>C (p.Leu529Pro) c.1718T>C (p.Leu573Pro) n.330-3334A>G | ClinVar dbSNP |