| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92499805G>A | CA16041153 | PEX1 | c.2617C>T (p.Gln873Ter) c.2446C>T (p.Gln816Ter) c.1651C>T (p.Gln551Ter) n.2656C>T n.2509C>T c.1993C>T (p.Gln665Ter) c.868C>T (p.Gln290Ter) n.2713C>T n.1644C>T n.2664C>T | ClinVar dbSNP |
| 7 | g.92499805G= | CA1725935192 | PEX1 | c.2617C= (p.Gln873=) c.2446C= (p.Gln816=) c.1651C= (p.Gln551=) n.2656C= n.2509C= c.1993C= (p.Gln665=) c.868C= (p.Gln290=) n.2713C= n.1644C= n.2664C= | dbSNP |