Table 1 BRCA2 and CDKN2A mutations and corresponding variant allele fractions
Gene | Protein | Coding change | Variant allele fraction % |
|---|---|---|---|
BRCA2 | N1910fs*2 | 5727_5728insG | 83.7 |
BRCA2 | A1843_S1985del | 5528_5956del429 | 0.53 |
BRCA2 | A1891_M1936del | 5671_5808del138 | 0.54 |
BRCA2 | D1909_D1911 > EDY | 5727_5731TAATG > AGACT | 0.64 |
BRCA2 | D1909_E1912 > V | 5726_5735ATAATGATGA > T | 0.13 |
BRCA2 | I1664_V2049del | 4989_6146del1158 | 0.18 |
BRCA2 | I1903_D1909 > M | 5709_5727TCTTCATAACTCTCTAGAT > G | 0.11 |
BRCA2 | L1908_N1910del | 5722_5730delCTAGATAAT | 0.33 |
BRCA2 | L1908_S1917del | 5721_5750del30 | 1.8 |
BRCA2 | N1766_Q2009del | 5292_6025 > CA | 1.3 |
BRCA2 | N1910_D1911del | 5728_5733delAATGAT | 3.3 |
BRCA2 | S1788_P2114 > DTT | 5362_6340 > GATACCA | 1.2 |
BRCA2 | Unknown | splice site 5333_6841 + 197del1706 | 4.8 |
CDKN2A | P114L | 341C > T | 10.0 |