| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222232086G>A | CA10602851 | PAX3 | c.784C>T (p.Arg262Ter) n.598C>T c.781C>T (p.Arg261Ter) c.928C>T (p.Arg310Ter) c.220C>T (p.Arg74Ter) n.287+10116G>A n.362G>A | ClinVar dbSNP |
| 2 | g.222232086G>T | CA431575587 | PAX3 | c.784C>A (p.Arg262=) n.598C>A c.781C>A (p.Arg261=) c.928C>A (p.Arg310=) c.220C>A (p.Arg74=) n.287+10116G>T n.362G>T | dbSNP |
| 2 | g.222232086G>C | CA351112145 | PAX3 | c.784C>G (p.Arg262Gly) n.598C>G c.781C>G (p.Arg261Gly) c.928C>G (p.Arg310Gly) c.220C>G (p.Arg74Gly) n.287+10116G>C n.362G>C | dbSNP gnomAD v4 |
| 2 | g.222232086G= | CA1330516202 | PAX3 | c.784C= (p.Arg262=) n.598C= c.781C= (p.Arg261=) c.928C= (p.Arg310=) c.220C= (p.Arg74=) n.287+10116G= n.362G= | dbSNP |