Summary of deleterious variants according to gene, number of mutation carriers and which clinical criteria are fulfilled
| Gene | No of families | No of mut+ | Fraction of mutations (in %) | No of mut+/family | AMSI | AMSII | BII_1 | BII_2 | BII_4 | BII_5 |
| MSH2 | 65 | 248 | 50 | 3.82 | 25 (10.38) | 40 (10.62) | 61 (10.94) | 46 (10.71) | 58 (10.89) | 57 (10.88) |
| MSH6 | 33 | 146 | 26 | 4.42 | 4 (10.12) | 16 (10.48) | 15 (10.45) | 24 (10.72) | 16 (10.48) | 22 (10.67) |
| MLH1 | 23 | 98 | 18 | 4.26 | 18 (10.78) | 20 (10.87) | 23 (11.00) | 20 (10.87) | 23 (11.00) | 23 (11.00) |
| PMS2 | 8 | 22 | 6 | 2.75 | 2 (10.25) | 3 (10.38) | 7 (10.88) | 4 (10.50) | 3 (10.38) | 3 (10.38) |
| Total | 129 | 514 | 100 | 3.98 | ||||||
AMSI/II, Amsterdam I/II criteria; BII, Bethesda II criteria; mut+, mutation carriers.