Number of mutations and polymorphisms in the mismatch repair genes responsible for HNPCC (as of January 1999 at www.nfdht.nl)
| Gene | No of disease causing mutations | No of polymorphisms |
|---|---|---|
| MLH1 | 134 | 15 |
| MSH2 | 87 | 22 |
| MSH6 | 3 | 5 |
| PMS1 | 1 | — |
| PMS2 | 2 | 5 |
| TGFβRII | 1 | — |
| Total | 228 | 47 |