| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222297132C>A | CA253050 | PAX3 | c.167G>T (p.Arg56Leu) n.548G>T c.311G>T (p.Arg104Leu) | ClinVar dbSNP |
| 2 | g.222297132C>G | CA351113680 | PAX3 | c.167G>C (p.Arg56Pro) n.548G>C c.311G>C (p.Arg104Pro) | dbSNP gnomAD v4 |
| 2 | g.222297132C= | CA1330546544 | PAX3 | c.167G= (p.Arg56=) n.548G= c.311G= (p.Arg104=) | dbSNP |