| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136845675G>A | CA273876 | PEX7 | c.400G>A (p.Asp134Asn) c.214+19206G>A c.286G>A (p.Asp96Asn) c.405G>A (n.405G>A) c.280G>A (p.Asp94Asn) c.339+19206G>A (n.339+19206G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136845675G>C | CA365856887 | PEX7 | c.400G>C (p.Asp134His) c.214+19206G>C c.286G>C (p.Asp96His) c.405G>C (n.405G>C) c.280G>C (p.Asp94His) c.339+19206G>C (n.339+19206G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136845675G>T | CA148643333 | PEX7 | c.400G>T (p.Asp134Tyr) c.214+19206G>T c.286G>T (p.Asp96Tyr) c.405G>T (n.405G>T) c.280G>T (p.Asp94Tyr) c.339+19206G>T (n.339+19206G>T) | dbSNP |