Molecular genetic test results and phenotype of families reported in literature
| Mutation and consequence (if reported) | Number of families | Truncated protein | Number of colon polyps | Extracolonic manifestations | Reference |
| 1597delT stop + 53aa | 1 | Not tested | “Sparse”(<5000) | Unknown | 16, 17 |
| 1597delC stop + 53aa | 2 | Not tested | 30–200 | Gastric cancer, supernumerary teeth | 18 |
| 1860delTTCT stop + 58aa | 1 | Not detected | <10– >100 | Unknown | 19 |
| 1924insAA stop + 45aa | 1 | Detected | 0–50 | Familial desmoids, gastric polyps, osteomas | 20 |
| 1962delCAGA | 3 | Detected | 0–200 | Desmoids, gastric polyps | 21 |
| 1982-1983delTAAA stop + 63aa | 1 | Detected | few–300 | Cysts, osteomas, gastric polyps, desmoids, atypical CHRPE | 22 |
| 1987delA stop + 61aa | 1 | Detected3-150 | few–1000s | Desmoids, gastric polyps, osteoma, gastric cancer, CHRPE | 23 |
| 1987delA stop + 61aa | 3 | Detected3-150 | <100–>1000 | Osteoma, lipoma, fibroma, desmoids, small intestinal polyps, gastric polyps | 24 |
| 2645delTTAT stop + 14aa | 1 | Not tested | Unknown | Extracolonic “symptoms” | 25 |
↵3-150 Western blot analysis did not support the existence of a stable truncated APC protein in lymphoblastoid cell lines from individuals carrying the mutation.
+aa, amino acid; CHRPE, congenital hypertrophy of the retinal pigment epithelium.