| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136869905G>A | CA340700 | PEX7 | c.649G>A (p.Gly217Arg) c.337G>A c.535G>A (p.Gly179Arg) c.654G>A (n.654G>A) c.529G>A (p.Gly177Arg) c.355G>A (p.Gly119Arg) c.526+23724G>A (n.526+23724G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.136869905G= | CA3134742741 | PEX7 | c.649G= (p.Gly217=) c.337G= c.535G= (p.Gly179=) c.654G= (n.654G=) c.529G= (p.Gly177=) c.355G= (p.Gly119=) c.526+23724G= (n.526+23724G=) | dbSNP |