Intragenic variant alleles in the hMSH2 and hMLH1 genes in HNPCC and HNPCC-like families
| Exon | Location | Nature | Affected families (No) | References |
|---|---|---|---|---|
| hMLH1 gene | ||||
| Exon 2 | Codon 66 | C>T nt198; Thr>Thr | 1 | Wehner et al32 |
| Exon 8 | Codon 219 | A>G nt 655; Ile>Val | 3 | Liu et al25 |
| Intron 13 | 3` exon 13 | G>A nt1558 +14 | 3 | Tannergard et al29 |
| hMSH2 gene | ||||
| Intron 1 | 3` exon 1 | C>G nt 211 +9 | 12 | Bubb et al33 |
| Exon 2 | Codon 113 | G>A nt; Lys>Lys | 1 | Liu et al25 |
| Intron 12 | 5` exon 13 | T>C nt 2006 −6 | 3 | Kolodner et al34 |
| Leach et al15 | ||||