Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222297061G>C | CA259837 | PAX3 | c.238C>G (p.His80Asp) n.619C>G c.382C>G (p.His128Asp) | ClinVar dbSNP |
2 | g.222297061G>A | CA351113523 | PAX3 | c.238C>T (p.His80Tyr) n.619C>T c.382C>T (p.His128Tyr) | ClinVar dbSNP |
2 | g.222297061G= | CA1330546517 | PAX3 | c.238C= (p.His80=) n.619C= c.382C= (p.His128=) | dbSNP |