Table 1.
Family | Abnormal mobility | DNA change | Mutation | Group |
C4-1 | hMLH1 exon18 | T insert in 2 081 | Frameshift | Typical HNPCC |
hMSH2 exon15 | C insert in 2 469 | Frameshift | ||
G insert in 2 471 | Frameshift | |||
C13-1 | hMSH2 exon11 | T insert in 1 760 | Frameshift | |
A→C missense in 1 688 | Tyr563Ser | Typical HNPCC | ||
C11-1 | hMSH2 exon13 | T to A missense in 2 091 | Cys697 | |
Terminator Condon | Typical HNPCC | |||
C1-1 | hMLH1 exon11 | A insert in 934 | Frameshift | Atypical HNPCC |
C8-2 | hMLH1 exon12 | C to G missense in 1 198 | Leu400Val | |
C to G missense in 1 261 | Val421Leu | |||
C insert in 1 364 and 1 372 | Frameshift | Atypical HNPCC | ||
C10-1 | hMLH1 intron10 | — | Polymorphism | Typical HNPCC |