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Table 1 Results of NGS analysis from primary tumor of the patient

From: Cerebral vasculitis mimicking intracranial metastatic progression of lung cancer during PD-1 blockade

Genes Amino Acid Change Allele Ratio
ATMa p.Asp1853Asn G = 0.57, A = 0.43
BRCA1 p.Asn1052Asp T = 0.8421, C = 0.1579
BAP1 p.Arg114Cys G = 0.8783, A = 0.1217
TSC1 p.Lys106Arg T = 0.8925, C = 0.1075
TP53a p.Ala159Pro CGCGGACGCGGGT = 0.7869, GGCGGACGCGGGT = 0.2131
MIR4673,NOTCH1a p.Gly347Asp C = 0.7327, T = 0.2673
CDH1 p.Val556Leu G = 0.9169, T = 0.0831
TP53 p.Gly266Ter C = 0.9294, A = 0.0706, G = 0.0, T = 0.0
CDKN2A p.Ser7fs TC = 0.7684, T = 0.2, TT = 0.0316
MSH2 p.Ser734Phe C = 0.9257, T = 0.0743
PTCH1 p.Gly1299Asp C = 0.9205, T = 0.0795
  1. atumor-associated mutations with highest frequency