| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92499736G>A | CA16041152 | PEX1 | c.2686C>T (p.Arg896Ter) c.2515C>T (p.Arg839Ter) c.1720C>T (p.Arg574Ter) n.2725C>T n.2578C>T c.2062C>T (p.Arg688Ter) c.937C>T (p.Arg313Ter) n.2782C>T n.1713C>T n.2733C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.92499736G= | CA1725935163 | PEX1 | c.2686C= (p.Arg896=) c.2515C= (p.Arg839=) c.1720C= (p.Arg574=) n.2725C= n.2578C= c.2062C= (p.Arg688=) c.937C= (p.Arg313=) n.2782C= n.1713C= n.2733C= | dbSNP |