Table 2.
Results of sample sequencing.
| Sample name | P1 | P2 | P3 | P4 | ||
|---|---|---|---|---|---|---|
| Gene | BRCA2 | BRCA2 | BRCA1 | BRCA1 | BRCA1 | BRCA2 |
| Allele Freq Asn | 23 | 120 | 36 | 36 | 36 | 100 |
| Coordinate | 39382638 | 30264927 | 419200372 | 43375502 | 41172649 | 32929387 |
| HGVSc | c.H75A>C | c.6634T>C | c.4373A>G | c.2643A>G | c.237C>T | c.7397T>C |
| COSMIC ID | COSM103751 | COSM134096 | COSM166528 | |||
| PolyPhen | Benign (0.536) | Benign (0.231) | Benign (0.1) | Possibly damaging (0.732) | Benign (0.231) | Benign (0) |
| Geno type | horn | het | hom | het | hom | hom |
|
| ||||||
| Sample name | P5 | P6 | P7 | P8 | Control group | |
|
| ||||||
| Gene | BRCA2 | BRCA1 | BRCA2 | BRCA1 | BRCA1 | BRCA2 |
| Allele Freq Asn | 100 | 33 | 100 | 26 | 100 | 100 |
| Coordinate | 33683462 | 43477289 | 32352679 | 32647899 | 30038853 | 31125674 |
| HGVSc | c.72378>C | c.7532AXJ | c.2367T>C | c.7792A>C | c.2352T>C | c.1567T>C |
| COSMIC ID | COSM13783 | COSM 14202 | ||||
| PolyPhen | Benign (0.001) | Benign (0) | Benign (0.343) | Benign (0) | Benign (0.1) | Benign (0.116) |
| Geno type | hom | het | hom | het | hom | hom |