| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406766G>C | CA538056 | PEX10 | c.790C>G (p.Arg264Gly) c.730C>G (p.Arg244Gly) c.684C>G c.*96C>G (n.*96C>G) c.787C>G (p.Arg263Gly) c.355C>G (p.Arg119Gly) n.846C>G n.795C>G c.298C>G (p.Arg100Gly) n.845C>G | dbSNP ExAC |
| 1 | g.2406766G>A | CA175042 | PEX10 | c.790C>T (p.Arg264Ter) c.730C>T (p.Arg244Ter) c.684C>T c.*96C>T (n.*96C>T) c.787C>T (p.Arg263Ter) c.355C>T (p.Arg119Ter) n.846C>T n.795C>T c.298C>T (p.Arg100Ter) n.845C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |