| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37000390A>T | CA272050 | NIPBL | c.3322A>T (p.Lys1108Ter) n.673A>T c.1-64188A>T (n.1-64188A>T) c.2578A>T (p.Lys860Ter) c.3305-427A>T (n.3305-427A>T) c.3122-427A>T (n.3122-427A>T) c.2662A>T (p.Lys888Ter) c.1705A>T (p.Lys569Ter) c.1696A>T (p.Lys566Ter) | ClinVar dbSNP |
| 5 | g.37000390A= | CA1539600753 | NIPBL | c.3322A= (p.Lys1108=) n.673A= c.1-64188A= (n.1-64188A=) c.2578A= (p.Lys860=) c.3305-427A= (n.3305-427A=) c.3122-427A= (n.3122-427A=) c.2662A= (p.Lys888=) c.1705A= (p.Lys569=) c.1696A= (p.Lys566=) | dbSNP |