| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985674C>T | CA272021 | NIPBL | c.2494C>T (p.Arg832Ter) n.2114C>T c.1-78904C>T (n.1-78904C>T) c.1750C>T (p.Arg584Ter) c.1834C>T (p.Arg612Ter) c.877C>T (p.Arg293Ter) c.1495+9272C>T (n.1495+9272C>T) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.36985674C= | CA1539582364 | NIPBL | c.2494C= (p.Arg832=) n.2114C= c.1-78904C= (n.1-78904C=) c.1750C= (p.Arg584=) c.1834C= (p.Arg612=) c.877C= (p.Arg293=) c.1495+9272C= (n.1495+9272C=) | dbSNP |