E-cadherin germline truncating mutations reported to date
| Exon | Mutation (effect) | Reference |
| 2 | A(49-2)G (splice site) | 20 |
| 2 | G59A (W20X) | 20 |
| 2 | G70T (E24X) | 21 |
| 3 | C187T (R63X) | 19 |
| 3 | C190T (Q64X) | 21 |
| 3 | 372-377 delC (frameshift) | 22 |
| 5 | G586T (G196X) | 21 |
| 7 | G1008T (splice site) | 8 |
| 8 | G(1137+1)A (splice site) | 21 |
| 11 | 1711 insG (frameshift) | 19 |
| 11 | 1588insC (frameshift) | 21 |
| 12 | C1792T (R598X) | 19 |
| 13 | C2095T (Q699X) | 8 |
| 15 | 2382-2386 insC (frameshift) | 8 |