| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42964462G>C | CA3810890 | PEX6 | c.2816C>G (p.Pro939Arg) c.2569C>G (n.2569C>G) c.2552C>G (p.Pro851Arg) n.2662C>G c.2732C>G (p.Pro911Arg) n.3778C>G n.2600C>G | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.42964462G>T | CA146010 | PEX6 | c.2816C>A (p.Pro939Gln) c.2569C>A (n.2569C>A) c.2552C>A (p.Pro851Gln) n.2662C>A c.2732C>A (p.Pro911Gln) n.3778C>A n.2600C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |