| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222297057C>T | CA351113515 | PAX3 | c.242G>A (p.Gly81Asp) n.623G>A c.386G>A (p.Gly129Asp) | ClinVar dbSNP |
| 2 | g.222297057C>G | CA253049 | PAX3 | c.242G>C (p.Gly81Ala) n.623G>C c.386G>C (p.Gly129Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.222297057C= | CA1330546513 | PAX3 | c.242G= (p.Gly81=) n.623G= c.386G= (p.Gly129=) | dbSNP |