| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36976090C>T | CA271961 | NIPBL | c.1183C>T (p.Gln395Ter) n.803C>T c.1-88488C>T (n.1-88488C>T) c.439C>T (p.Gln147Ter) c.523C>T (p.Gln175Ter) | ClinVar dbSNP |
| 5 | g.36976090C= | CA1539569377 | NIPBL | c.1183C= (p.Gln395=) n.803C= c.1-88488C= (n.1-88488C=) c.439C= (p.Gln147=) c.523C= (p.Gln175=) | dbSNP |