| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37000508G>A | CA272062 | NIPBL | c.3440G>A (p.Arg1147Gln) c.1-64070G>A (n.1-64070G>A) c.2696G>A (p.Arg899Gln) c.3305-309G>A (n.3305-309G>A) c.3122-309G>A (n.3122-309G>A) c.2780G>A (p.Arg927Gln) c.1823G>A (p.Arg608Gln) c.1814G>A (p.Arg605Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.37000508G= | CA1539601018 | NIPBL | c.3440G= (p.Arg1147=) c.1-64070G= (n.1-64070G=) c.2696G= (p.Arg899=) c.3305-309G= (n.3305-309G=) c.3122-309G= (n.3122-309G=) c.2780G= (p.Arg927=) c.1823G= (p.Arg608=) c.1814G= (p.Arg605=) | dbSNP |