Table 12.
"Undetected" gene mutation sites in tumor tissues
Gene
|
Location
|
Amino acid mutation
|
Mutation start position
|
Mutation end position
|
Number of cases
|
Undetected sites/total mutation sites
|
TP53 | Exon 4 | A84G | 7579436 | 7579436 | 4 | |
Exon 5 | P152A | 7578476 | 7578476 | 1 | ||
Exon 8 | L289P | 7577072 | 7577072 | 1 | 6/40 | |
APC | Exon 17 | S13461 | 112175328 | 112175328 | 1 | |
K1573fs | 112175953 | 112175954 | 1 | |||
E1327fs | 112175213 | 112175217 | 1 | 3/15 | ||
FBXW7 | Exon 7 | R2781 | 153258983 | 153258983 | 1 | |
Exon 12 | R266C | 153247289 | 153247289 | 1 | 2/5 | |
NOTCH1 | Exon 26 | R1599P | 139399350 | 139399350 | 2 | 2/2 |
EGFR | Exon 20 | I821T | 55249164 | 55249164 | 1 | 1/2 |
Indicates stop codon.
fs: Frameshift mutation.