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Table 2 Inconsistent germline and somatic BRCA1/2 variations

From: Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer

 Germline BRCA mutationSomatic BRCA mutation
 AA variationSequence variationMutation type AA variationSequence variationMutation typeVAF
Replace #1BRCA2p.S93Ifs*8c.276dupAFrameshiftBRCA1p.K654Sfs*47c.1961delAFrameshift2.11
BRCA2p.I605Yfs*9c.1806delAFrameshift24.65
Replace #2BRCA1p.W1815*c.5445G > ANonsenseBRCA1p.W1836*c.5508G > ANonsense54.33
Reversion #1BRCA1p.S308*fsc.922_924delAGCinsTFrameshift 
Reversion #2BRCA1 c.5467 + 1G > AIntervening sequence 
Reversion #3BRCA1 c.212 + 1G > TIntervening sequence 
Acquired #1BRCA2p.E1299Vc.3896A > TMissense5.54
Acquired #2BRCA1p.5308Tfs*6c.923delGFrameshift54.73
Acquired #3BRCA1p.F1177Cfs*7c.3530_3540delFrameshift27.84
Acquired #4BRCA1p.K1183Rc.3548A > GMissense23.74
Acquired #5BRCA1p.K654Sfs’47c.1961delAFrameshift2.11
BRCA2p.I605Yfs’9c.1806delAFrameshift24.77
Acquired #6BRCA2p.I605Nfs’11c.1805_1805insAFrameshift2.34
Acquired #7BRCA1p.T499Kfs*4c.1496delCFrameshift40.87
  1. AA amino acid, VAF variant allele frequency, VOUS variants of uncertain significance