| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222232268G>C | CA16604154 | PAX3 | c.602C>G (p.Ser201Ter) n.416C>G c.599C>G (p.Ser200Ter) c.746C>G (p.Ser249Ter) c.38C>G (p.Ser13Ter) n.287+10298G>C | ClinVar dbSNP |
| 2 | g.222232268G>T | CA351112907 | PAX3 | c.602C>A (p.Ser201Ter) n.416C>A c.599C>A (p.Ser200Ter) c.746C>A (p.Ser249Ter) c.38C>A (p.Ser13Ter) n.287+10298G>T | ClinVar dbSNP |
| 2 | g.222232268G= | CA1330516267 | PAX3 | c.602C= (p.Ser201=) n.416C= c.599C= (p.Ser200=) c.746C= (p.Ser249=) c.38C= (p.Ser13=) n.287+10298G= | dbSNP |