| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132672143G>A | CA10588809 | NPHP3-ACAD11,UBA5 | c.949G>A (p.Val317Met) c.778G>A (p.Val260Met) c.610G>A (p.Val204Met) n.2209G>A n.567G>A c.*1980+9771C>T (n.*1980+9771C>T) c.636+9771C>T n.3995+9771C>T c.442G>A (p.Val148Met) c.637G>A (p.Val213Met) c.508G>A (p.Val170Met) n.1380G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.132672143G= | CA1402636911 | NPHP3-ACAD11,UBA5 | c.949G= (p.Val317=) c.778G= (p.Val260=) c.610G= (p.Val204=) n.2209G= n.567G= c.*1980+9771C= (n.*1980+9771C=) c.636+9771C= n.3995+9771C= c.442G= (p.Val148=) c.637G= (p.Val213=) c.508G= (p.Val170=) n.1380G= | dbSNP |