| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92496766del | CA274203 | PEX1 | c.2730del (p.Leu910PhefsTer?) c.2559del (p.Leu853PhefsTer?) c.1764del (p.Leu588PhefsTer?) n.2769del n.2622del c.2106del (p.Leu702PhefsTer?) c.981del (p.Leu327PhefsTer?) n.2826del n.1757del n.2777del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92496766T= | CA3145966724 | PEX1 | c.2730A= (p.Leu910=) c.2559A= (p.Leu853=) c.1764A= (p.Leu588=) n.2769A= n.2622A= c.2106A= (p.Leu702=) c.981A= (p.Leu327=) n.2826A= n.1757A= n.2777A= | dbSNP |