| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.88731856G>C | CA120008 | MEF2C | c.305C>G (p.Ser102Ter) c.683C>G (p.Ser228Ter) n.620C>G c.674C>G (p.Ser225Ter) c.737C>G (p.Ser246Ter) c.677C>G (p.Ser226Ter) n.101C>G c.539C>G (p.Ser180Ter) c.92C>G (p.Ser31Ter) c.257C>G (p.Ser86Ter) | ClinVar dbSNP |
| 5 | g.88731856G= | CA1562203635 | MEF2C | c.305C= (p.Ser102=) c.683C= (p.Ser228=) n.620C= c.674C= (p.Ser225=) c.737C= (p.Ser246=) c.677C= (p.Ser226=) n.101C= c.539C= (p.Ser180=) c.92C= (p.Ser31=) c.257C= (p.Ser86=) | dbSNP |