Table 2.
Novel APC variants identified in Ugandan colorectal cancer patients
| Variant No | HGVSc | HGVSp | Type of mutation | Clinical significance |
|---|---|---|---|---|
| 1 | c.4253G > A | p.S1418N | Missense | Deleterious |
| 2 | c.4933_4934insC | p.E1645Afs6 | Framehsift insertion | Pathogenic |
| 3 | c.5161_5162insC | p.K172Tfs30 | Frameshift insertion | Pathogenic |
| 4 | c.5498G > C | p.G1833A | Missense | Deleterious |
| 5 | c.5504C > A | p.P1835H | Missense | Deleterious |
| 6 | c.6630G > T | p.R2210S | Missense | Deleterious |
| 7 | c.6633delA | p.M2212 | Stop gained | Pathogenic |
| 8 | c.6638 T > C | p.I12213T | Missense | Deleterious |
| 9 | c.7420_7421insA | p.S2474Yfs19 | Framehsift insertion | Pathogenic |