| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985772T>A | CA172669 | NIPBL | c.2592T>A (p.Asp864Glu) n.2212T>A c.1-78806T>A (n.1-78806T>A) c.1848T>A (p.Asp616Glu) c.1932T>A (p.Asp644Glu) c.975T>A (p.Asp325Glu) c.1495+9370T>A (n.1495+9370T>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.36985772T= | CA1539582503 | NIPBL | c.2592T= (p.Asp864=) n.2212T= c.1-78806T= (n.1-78806T=) c.1848T= (p.Asp616=) c.1932T= (p.Asp644=) c.975T= (p.Asp325=) c.1495+9370T= (n.1495+9370T=) | dbSNP |