| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132665842C>T | CA10588805 | NPHP3-ACAD11,UBA5 | c.352C>T (p.Arg118Ter) c.181C>T (p.Arg61Ter) c.13C>T (p.Arg5Ter) c.28-2976C>T (n.28-2976C>T) n.376C>T c.*1980+16072G>A (n.*1980+16072G>A) c.162-2976C>T (n.162-2976C>T) c.636+16072G>A n.3995+16072G>A c.-39-2976C>T (n.-39-2976C>T) n.783C>T | ClinVar dbSNP |
| 3 | g.132665842C= | CA1402623079 | NPHP3-ACAD11,UBA5 | c.352C= (p.Arg118=) c.181C= (p.Arg61=) c.13C= (p.Arg5=) c.28-2976C= (n.28-2976C=) n.376C= c.*1980+16072G= (n.*1980+16072G=) c.162-2976C= (n.162-2976C=) c.636+16072G= n.3995+16072G= c.-39-2976C= (n.-39-2976C=) n.783C= | dbSNP |