| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37022088G>A | CA267541 | NIPBL | c.5366G>A (p.Arg1789Gln) c.1-42490G>A (n.1-42490G>A) c.4622G>A (p.Arg1541Gln) c.5168G>A (p.Arg1723Gln) c.4985G>A (p.Arg1662Gln) c.4706G>A (p.Arg1569Gln) c.3749G>A (p.Arg1250Gln) c.3740G>A (p.Arg1247Gln) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37022088G= | CA1539587502 | NIPBL | c.5366G= (p.Arg1789=) c.1-42490G= (n.1-42490G=) c.4622G= (p.Arg1541=) c.5168G= (p.Arg1723=) c.4985G= (p.Arg1662=) c.4706G= (p.Arg1569=) c.3749G= (p.Arg1250=) c.3740G= (p.Arg1247=) | dbSNP |