Method | |||||||||
---|---|---|---|---|---|---|---|---|---|
Gene | Exon | Codon | Mutation | Consequence | Family | Patient group | SSCA | HA | PTT |
hMSH2 | 2 | 97 | 289 ins 22 | Frameshift | 130† | 1 | + | + | + |
3 | 173 | 518 del T | Frameshift | 241-150 | 1 | + | + | NE | |
Intron 5 | 942+3 a→t | In frame deletion of exon 5 | 119 | 2 | NE | − | + | ||
7 | 383 | 1147 C→T | Arg→stop | 177 | 2 | + | − | NE | |
7 | 409 | 1226 del AG | Frameshift | 225 | 1 | + | + | NE | |
11 | 561 | 1683 del A | Frameshift | 271-150 | 4 | − | + | NE | |
11 | 567 | 1699 del 5 | Frameshift | 167† | 3 | + | + | NE | |
13 | 697 | 2090 G→Phe | Cys→Phe | 621-150 | 1 | + | − | − | |
hMLH1 | 1 | 1 | 2 T→A | Initiation codon | 721-150 | 1 | + | + | NE |
1 | 25 | 73 del A | Frameshift | 1101-150 | 1 | + | + | NE | |
1 | 28 | 83 C→T | Pro→Leu | 521-150 | 3 | + | + | NE | |
2 | 62 | 184 C→T | Gln→stop | 911-150 | 3 | + | − | NE | |
2 | 62 | 184 C→T | Gln→stop | 127 | 4 | + | − | + | |
2 | 62 | 184 C→T | Gln→stop | 234 | 1 | + | − | + | |
3 | 84 | 250 A→G | Lys→Glu | 171 | 3 | + | − | − | |
8 | 226 | 676 C→T | Arg→stop | 121-150 | 1 | + | − | NE | |
Intron 9 | 790+4 a→g | Splice variation | 67 | 1 | + | NE | − | ||
10 | 264 | 791 del 4 | Frameshift | 143 | 1 | + | + | NE | |
11 | 329 | 986 A→C | His→Pro | 96‡ | 1 | + | − | − | |
12 | 356 | 1068 del 8 | Frameshift | 259 | 3 | + | + | NE | |
13 | 497 | 1489 ins C | Frameshift | 144 | 1 | NE | + | + | |
14 | 541 | 1622 del C | Frameshift | 113 | 1 | + | + | NE | |
14 | 547 | 1640 T→A | Leu→stop | 5 | 1 | + | + | NE | |
Intron 17 | 1989+1 g→t | In frame deletion of exon 17 | 156 | 1 | NE | NE | + | ||
19 | 722 | 2166 ins 6 | In frame insertion | 154 | 4 | NE | + | NE |
↵1-150 Included in Wehner and colleagues21; †included in Kruse and colleagues27 ‡included in Wanget al.28
SSCA, single strand conformation analysis; HA, heteroduplex analysis; PTT, protein truncation test.
+, mutation detected; −, mutation not detected; NE, not examined.