| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406576T>C | CA203142 | PEX10 | c.880A>G (p.Thr294Ala) c.820A>G (p.Thr274Ala) c.774A>G c.*186A>G (n.*186A>G) c.877A>G (p.Thr293Ala) c.445A>G (p.Thr149Ala) n.936A>G n.885A>G c.388A>G (p.Thr130Ala) n.935A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406576T= | CA1140504168 | PEX10 | c.880A= (p.Thr294=) c.820A= (p.Thr274=) c.774A= c.*186A= (n.*186A=) c.877A= (p.Thr293=) c.445A= (p.Thr149=) n.936A= n.885A= c.388A= (p.Thr130=) n.935A= | dbSNP |
| 1 | g.2406576T>A | CA337984538 | PEX10 | c.880A>T (p.Thr294Ser) c.820A>T (p.Thr274Ser) c.774A>T c.*186A>T (n.*186A>T) c.877A>T (p.Thr293Ser) c.445A>T (p.Thr149Ser) n.936A>T n.885A>T c.388A>T (p.Thr130Ser) n.935A>T | dbSNP |