| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222232202C>T | CA10576591 | PAX3 | c.668G>A (p.Arg223Gln) n.482G>A c.665G>A (p.Arg222Gln) c.812G>A (p.Arg271Gln) c.104G>A (p.Arg35Gln) n.287+10232C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.222232202C>A | CA351112613 | PAX3 | c.668G>T (p.Arg223Leu) n.482G>T c.665G>T (p.Arg222Leu) c.812G>T (p.Arg271Leu) c.104G>T (p.Arg35Leu) n.287+10232C>A | ClinVar dbSNP |
| 2 | g.222232202C= | CA1330516249 | PAX3 | c.668G= (p.Arg223=) n.482G= c.665G= (p.Arg222=) c.812G= (p.Arg271=) c.104G= (p.Arg35=) n.287+10232C= | dbSNP |