| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222297158G>C | CA116692 | PAX3 | c.141C>G (p.Asn47Lys) n.522C>G c.285C>G (p.Asn95Lys) | ClinVar dbSNP |
| 2 | g.222297158G>A | CA431575997 | PAX3 | c.141C>T (p.Asn47=) n.522C>T c.285C>T (p.Asn95=) | dbSNP gnomAD v4 |
| 2 | g.222297158G= | CA1330546563 | PAX3 | c.141C= (p.Asn47=) n.522C= c.285C= (p.Asn95=) | dbSNP |