Founder mutatations in HNPCC
| Gene | Mutation | Population and approximate proportion of all HNPCC in that population | Reference | |
|---|---|---|---|---|
| MLH1 | Del exon 16 | Finns | 50% | 45 |
| MLH1 | Splice acceptor exon 6 (del exon 6) | Finns | 15% | 46 |
| MLH1 | Ile→Arg, codon 320, exon 4 | Finns | 10% | 46 |
| MLH1 | Splice donor exon 14 (breakdown of transcription) | Danes | 25% | 84 |
| MSH2 | 943+3 A→T, splice donor exon 5 (del exon 5) | Newfoundlanders | 50% | 114 |