| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406566A>G | CA175037 | PEX10 | c.890T>C (p.Leu297Pro) c.830T>C (p.Leu277Pro) c.784T>C c.*196T>C (n.*196T>C) c.887T>C (p.Leu296Pro) c.455T>C (p.Leu152Pro) n.946T>C n.895T>C c.398T>C (p.Leu133Pro) n.945T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.2406566A= | CA1148224149 | PEX10 | c.890T= (p.Leu297=) c.830T= (p.Leu277=) c.784T= c.*196T= (n.*196T=) c.887T= (p.Leu296=) c.455T= (p.Leu152=) n.946T= n.895T= c.398T= (p.Leu133=) n.945T= | dbSNP |