| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33444506G>A | CA16618284 | SYNGAP1,SYNGAP1-AS1 | c.3213G>A (p.Trp1071Ter) c.3471G>A (p.Trp1157Ter) c.3429G>A (p.Trp1143Ter) c.3294G>A (p.Trp1098Ter) c.3426G>A (p.Trp1142Ter) n.329+2100C>T | ClinVar dbSNP |
| 6 | g.33444506G= | CA1620015191 | SYNGAP1,SYNGAP1-AS1 | c.3213G= (p.Trp1071=) c.3471G= (p.Trp1157=) c.3429G= (p.Trp1143=) c.3294G= (p.Trp1098=) c.3426G= (p.Trp1142=) n.329+2100C= | dbSNP |