Table 3.
Classa | Patient ID | Gene | mRNA | UTR position | rsID (dbSNP 142) | Ranke | p-value |
---|---|---|---|---|---|---|---|
Allele Frequency (%)d | |||||||
F | In 26 patients | BRCA2 b | c.-52A > G | 5’ UTR | rs206118 | 2/900 | 0.002 |
14.86 | |||||||
F | In 40 patients | BRCA2 b | c.*532A > G | 3’ UTR | rs11571836 | 239/2700 | 0.089 |
19.75 | |||||||
P | 7-4C | CDH1 c | c.-71C > G | 5’ UTR | rs34033771 | 69/600 | 0.115 |
0.56 | |||||||
F | 4-2E | TP53 b | c.*485G > A | 3’ UTR | rs4968187 | 169/4500 | 0.038 |
5-4A | |||||||
5.11 | |||||||
F | 2-1A, 7-1B, 5-2A.7-1D, 7-2B, 7-2F | TP53 b | c.*826G > A | 3’ UTR | rs17884306 | 371/4500 | 0.082 |
7-4C | |||||||
5.71 |
aF:Flagged; P:Prioritized
bLong Range UTR SNPfold Analysis
cLocal Range SNPfold Analysis
dIf available
eRank of the SNP, in terms of how much it changes the mRNA structure compared to all other possible mutations