| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37052453C>T | CA10654758 | NIPBL | c.7150C>T (p.Gln2384Ter) n.1032C>T c.1-12125C>T (n.1-12125C>T) c.6406C>T (p.Gln2136Ter) c.6952C>T (p.Gln2318Ter) c.6769C>T (p.Gln2257Ter) c.6490C>T (p.Gln2164Ter) c.5533C>T (p.Gln1845Ter) c.5524C>T (p.Gln1842Ter) | ClinVar dbSNP |
| 5 | g.37052453C= | CA1539572246 | NIPBL | c.7150C= (p.Gln2384=) n.1032C= c.1-12125C= (n.1-12125C=) c.6406C= (p.Gln2136=) c.6952C= (p.Gln2318=) c.6769C= (p.Gln2257=) c.6490C= (p.Gln2164=) c.5533C= (p.Gln1845=) c.5524C= (p.Gln1842=) | dbSNP |