Gene | DNA change | Protein change | Total read depth | Variant read frequency | BIC, ClinVar | Class | Tumor site | Age | Fq |
---|---|---|---|---|---|---|---|---|---|
BRCA1 | c.4067-4071 delAAGAA | GLn1356Argfs*8 | 798 | 0.5293 | NR | 5 | Bil BC | 30 | 1 |
c.5030_5033delCTAA | Thr1677Ilefs*2 | 1609 | 0.5320 | R | 6 | BC, OC, BC/OC | 38,39,40 | 3 | |
c.296_297delTG | Leu99* | 429 | 0.4779 | NR | – | BC | 43 | 1 | |
c.2338C > T | Gln780* | 626 | 0.5064 | R | 5 | OC, OC | 46,48 | 2 | |
c.3254delG | Arg1085Asnfs*2 | 796 | 0.4950 | NR | 5 | BC | 33 | 1 | |
c.3364_3370 dupACAGATT | Phe1124Tyrfs*11 | 421 | 0.4676 | NR | – | BC | 40 | 1 | |
c.4041_4042delAG | Gly1348Asnfs*7 | 925 | 0.4941 | R | 4 | BC | 40 | 1 | |
BRCA2 | c.17-20 delAAGA | Lys6Argfs*17 | 1238 | 0.4651 | NR | 5 | BC | 39 | 2 |
c.1310-1313 delAAGA | Lys437Ilefs*22 | 2206 | 0.4955 | R | 5 | BC | 57,42, 27,58 | 4 | |
c.1976_1800 delCTTAT | Ser599* | 2476 | 0.5202 | R | 4 | BC | 37 | 1 | |
c.2095C > T | Gln699* | 709 | 0.5162 | NR | 5 | BC | 43 | 1 | |
c.9097delA | Thr3033Leufs*28 | 1614 | 0.5165 | R | 5 | BC | 63 | 1 | |
c.632-1G > A | – | 826 | 0.5133 | R | 2 | BC | 27,57 | 2 |