Table 1.
Gene | Exon | Codon | Nucleotide change | Mutation status |
---|---|---|---|---|
hMSH2 | 8 | 453 | A1358-------T | Splice site------30bp deletion |
12 | SD of exon12 | Del of 11bp at 2005 | Splice defect | |
15 | 878 | 2633 del (AG) | Frameshift | |
| ||||
MLH1 | 12 | 397 | 1190 del (T) | Frameshift |
| ||||
BRCA1 | 11 | 64 | TGT-GGT | Missense |
392 | 1294–1333 del | Frameshift | ||
1252 | 3875–3878 del | Frameshift | ||
1656 | 5085–5103 del | Frameshift | ||
1773 | ACCC-ACCCC (ins) | Frameshift | ||
| ||||
P53 | 4 | 72 | GGC-CCC | Missense |
5 | 138 | GCC-ACC | Missense | |
5 | 163 | TAC-AAC | Missense | |
5 | 161 | 1 base pair insertion | Frameshift | |
6 | 209 | AGA-ACA | Frameshift | |
7 | 245 | GGC-AGC | Missense | |
8 | 280 | AGA-ACA | Frameshift |