| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33444529C>T | CA10576135 | SYNGAP1,SYNGAP1-AS1 | c.3236C>T (p.Ser1079Leu) c.3494C>T (p.Ser1165Leu) c.3452C>T (p.Ser1151Leu) c.3317C>T (p.Ser1106Leu) c.3449C>T (p.Ser1150Leu) n.329+2077G>A | ClinVar dbSNP |
| 6 | g.33444529C= | CA1620015198 | SYNGAP1,SYNGAP1-AS1 | c.3236C= (p.Ser1079=) c.3494C= (p.Ser1165=) c.3452C= (p.Ser1151=) c.3317C= (p.Ser1106=) c.3449C= (p.Ser1150=) n.329+2077G= | dbSNP |