| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136826464C>T | CA16041012 | PEX7 | c.334C>T (p.Gln112Ter) c.209C>T c.220C>T (p.Gln74Ter) c.339C>T (n.339C>T) c.214C>T (p.Gln72Ter) | ClinVar dbSNP |
| 6 | g.136826464C= | CA3134713004 | PEX7 | c.334C= (p.Gln112=) c.209C= c.220C= (p.Gln74=) c.339C= (n.339C=) c.214C= (p.Gln72=) | dbSNP |