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. 2020 Sep 8;30(9):1288–1296. doi: 10.1089/thy.2019.0514

Table 1.

Overview of Missense Mutations in BRAFV600E Positive Samples at Baseline and at Progression Under BRAF Inhibitors

Patient Mutations in baseline sample
Mutations in resistant sample
NCBI accession No. Name DNA change Protein change Variant allele frequency (%) NCBI accession No. Name DNA change Protein change Variant allele frequency (%)
1 NM_004333.4 BRAF c.1799T>A p.V600E NM_004333.4 BRAF c.1799T>A p.V600E
          NM_004985.3 KRAS c.35G>T p.G12V  
2 NM_004333.4 BRAFa c.1799T>A p.V600E 26.4 NM_004333.4 BRAF c.1799T>A p.V600E
NM_000546.5 TP53a c.524G>A p.R175H 22.3 NM_000546.5 TP53 c.524G>A p.R175H
NM_ 005228.4 EGFRa   p.G322S 1.6
          NM_002524.4 NRAS c.181C>A p.Q61K
          NM_005157.4 ABL1 c.740A>G p.K247R
3 NM_004333.4 BRAFa c.1799T>A p.V600E 0.4 NM_004333.4 BRAF c.1799T>A p.V600E
NM_000051.3 ATM c.5956A>G p.I1986V NM_000051.3 ATM c.5956A>G p.I1986V
NM_021960.4 MCL1 c.1051dupT Nonsense
NM_000546.5 TP53a   p.R273H 0.4 NM_004985.3 KRAS c.35G>T p.G12V
NM_ 005228.4 EGFRa   p.R776H 0.2 NM_001626.4 AKT2 c.49G>A p.E17K
NM_001012331.1 NTRK1a   p.H571Y 0.6 NM_198253.2 TERT (promoter) c.-124C>T
NM_004958.3 MTORa   p.V169I 0.3          
4 NM_004333.4 BRAF c.1799T>A p.V600E NM_004333.4 BRAFa c.1799T>A p.V600E 0.3
          NM_002524.4 NRASa c.38G>A p.G13D 0.3
a

Indicates that the mutations were detected on liquid biopsy (cfDNA, Guardant 360).