| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136869909C>T | CA130482 | PEX7 | c.653C>T (p.Ala218Val) c.341C>T c.539C>T (p.Ala180Val) c.658C>T (n.658C>T) c.533C>T (p.Ala178Val) c.359C>T (p.Ala120Val) c.526+23728C>T (n.526+23728C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.136869909C= | CA3134742742 | PEX7 | c.653C= (p.Ala218=) c.341C= c.539C= (p.Ala180=) c.658C= (n.658C=) c.533C= (p.Ala178=) c.359C= (p.Ala120=) c.526+23728C= (n.526+23728C=) | dbSNP |
| 6 | g.136869909C>A | CA365763965 | PEX7 | c.653C>A (p.Ala218Glu) c.341C>A c.539C>A (p.Ala180Glu) c.658C>A (n.658C>A) c.533C>A (p.Ala178Glu) c.359C>A (p.Ala120Glu) c.526+23728C>A (n.526+23728C>A) | dbSNP gnomAD v4 |