| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406528G>C | CA16942840 | PEX10 | c.928C>G (p.His310Asp) c.868C>G (p.His290Asp) c.822C>G c.*234C>G (n.*234C>G) c.925C>G (p.His309Asp) c.493C>G (p.His165Asp) n.984C>G n.933C>G c.436C>G (p.His146Asp) n.983C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.2406528G= | CA1140725539 | PEX10 | c.928C= (p.His310=) c.868C= (p.His290=) c.822C= c.*234C= (n.*234C=) c.925C= (p.His309=) c.493C= (p.His165=) n.984C= n.933C= c.436C= (p.His146=) n.983C= | dbSNP |
| 1 | g.2406528G>A | CA337984263 | PEX10 | c.928C>T (p.His310Tyr) c.868C>T (p.His290Tyr) c.822C>T c.*234C>T (n.*234C>T) c.925C>T (p.His309Tyr) c.493C>T (p.His165Tyr) n.984C>T n.933C>T c.436C>T (p.His146Tyr) n.983C>T | dbSNP gnomAD v4 |