| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406553C>T | CA537996 | PEX10 | c.903G>A (p.Arg301=) c.843G>A (p.Arg281=) c.797G>A c.*209G>A (n.*209G>A) c.900G>A (p.Arg300=) c.468G>A (p.Arg156=) n.959G>A n.908G>A c.411G>A (p.Arg137=) n.958G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406553C= | CA1140553047 | PEX10 | c.903G= (p.Arg301=) c.843G= (p.Arg281=) c.797G= c.*209G= (n.*209G=) c.900G= (p.Arg300=) c.468G= (p.Arg156=) n.959G= n.908G= c.411G= (p.Arg137=) n.958G= | dbSNP |
| 1 | g.2406553C>G | CA337984368 | PEX10 | c.903G>C (p.Arg301Ser) c.843G>C (p.Arg281Ser) c.797G>C c.*209G>C (n.*209G>C) c.900G>C (p.Arg300Ser) c.468G>C (p.Arg156Ser) n.959G>C n.908G>C c.411G>C (p.Arg137Ser) n.958G>C | dbSNP |