| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985602C>T | CA272012 | NIPBL | c.2422C>T (p.Arg808Ter) n.2042C>T c.1-78976C>T (n.1-78976C>T) c.1678C>T (p.Arg560Ter) c.1762C>T (p.Arg588Ter) c.805C>T (p.Arg269Ter) c.1495+9200C>T (n.1495+9200C>T) | ClinVar dbSNP |
| 5 | g.36985602C= | CA1539582158 | NIPBL | c.2422C= (p.Arg808=) n.2042C= c.1-78976C= (n.1-78976C=) c.1678C= (p.Arg560=) c.1762C= (p.Arg588=) c.805C= (p.Arg269=) c.1495+9200C= (n.1495+9200C=) | dbSNP |