| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222295564T>A | CA10581222 | PAX3 | c.415A>T (p.Lys139Ter) n.796A>T c.412A>T (p.Lys138Ter) c.559A>T (p.Lys187Ter) | ClinVar dbSNP |
| 2 | g.222295564T= | CA1330545786 | PAX3 | c.415A= (p.Lys139=) n.796A= c.412A= (p.Lys138=) c.559A= (p.Lys187=) | dbSNP |