Table 2.
Patient | Site | Gene | Exonic Function | Location | Nucleotide | Amino Acid | Variant Allele Frequency | Coverage at Variant Allele |
---|---|---|---|---|---|---|---|---|
1 | Tube | BRCA2 | frameshift deletion | chr13:32914209 | c.5718_5719del | p.1906_1907del | 72% | 137 |
Tube | TP53 | stopgain SNV | chr17:7578263 | c.C190T | p.R64X | 48% | 85 | |
| ||||||||
Ovary | BRCA2 | stopgain SNV | chr13:32972626 | c.A9976T | p.K3326X | 50% | 87 | |
Ovary | BRCA2 | frameshift deletion | chr13:32914209 | c.5718_5719del | p.1906_1907del | 54% | 122 | |
Ovary | TP53 | stopgain SNV | chr17:7578263 | c.C190T | p.R64X | 11% | 8 | |
| ||||||||
2 | Tube | BRCA1 | stopgain SNV | chr17:41244787 | c.C2620T | p.Q874X | 52% | 464 |
Tube | TP53 | nonsynon. SNV | chr17:7577580 | c.A305G | p.Y102C | 10% | 118 | |
| ||||||||
Ovary | TP53 | nonsynon. SNV | chr17:7577580 | c.A305G | p.Y102C | 69% | 225 | |
Ovary | BRCA1 | stopgain SNV | chr17:41244787 | c.C2620T | p.Q874X | 88% | 351 | |
| ||||||||
3 | Tube | TP53 | nonsynon. SNV | chr17:7577535 | c.G350C | p.R117T | 15% | 90 |
| ||||||||
Uterus | MTOR | nonsynon. SNV | chr1:11184573 | c.C6644A | p.S2215Y | 18% | 36 | |
Uterus | PTEN | nonsynon. SNV | chr10:89685308 | c.A203T | p.Y68F | 15% | 41 | |
Uterus | KRAS | nonsynon. SNV | chr12:25398284 | c.G35T | p.G12V | 20% | 81 | |
Uterus | PIK3CA | nonsynon. SNV | chr3:178916876 | c.G263A | p.R88Q | 21% | 85 | |
Uterus | ATM | nonsynon. SNV | chr11:108142000 | c.C2944T | p.R982C | 20% | 81 | |
| ||||||||
4 | Tube | TP53 | nonsynon. SNV | chr17:7577548 | c.G337C | p.G113R | 12% | 60 |
Tube | PTEN | stopgain SNV | chr10:89692904 | c.C388T | p.R130X | 18% | 36 | |
Tube | CTNNB1 | nonsynon. SNV | chr3:41266137 | c.C134T | p.S45F | 14% | 151 | |
| ||||||||
Uterus | PTEN | stopgain SNV | chr10:89692904 | c.C388T | p.R130X | 34% | 73 | |
Uterus | CTNNB1 | nonsynon. SNV | chr3:41266136 | c.T133C | p.S45P | 33% | 133 |
nonsynon. SNV = nonsynonmous single nucleotide variant.