| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136866645dup | CA16041016 | PEX7 | c.545dup (p.Trp183MetfsTer23) c.233dup c.431dup (p.Trp145MetfsTer23) c.550dup (n.550dup) c.425dup (p.Trp143MetfsTer23) c.340-3245dup (n.340-3245dup) c.526+20464dup (n.526+20464dup) | ClinVar dbSNP |
| 6 | g.136866645T= | CA3135552380 | PEX7 | c.545T= (p.Ile182=) c.233T= c.431T= (p.Ile144=) c.550T= (n.550T=) c.425T= (p.Ile142=) c.340-3245T= (n.340-3245T=) c.526+20464T= (n.526+20464T=) | dbSNP dbSNP |