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Table 5 Comparison of genetic variants identified by target NGS in LBC and FFPE samples of thyroid tumors

From: Clinical impact of a cytological screening system using cyclin D1 immunostaining and genomic analysis for the diagnosis of thyroid nodules

Patient no

Gene

cDNA change

Amino acid change

Variant frequency (%)

Read depth

Functional consequence

Case 29 LBC

HRAS

c.81A > G

 

50

104

synonymous variant

TP53

c.215G > C

p.72P/R

99.66

1468

missense variant

Case 29 FFPE

HRAS

c.81A > G

 

48.75

80

synonymous variant

TP53

c.215G > C

p.72P/R

98.86

612

missense variant

Case 30 LBC

BRAF

c.1799A > T

p.600 V/E

31.98

172

missense variant

Case 30 FFPE

BRAF

c.1799A > T

p.600 V/E

2.87

348

missense variant

Case 31 LBC

BRAF

c.1799A > T

p.600 V/E

40.46

351

missense variant

Case 31 FFPE

BRAF

c.1799A > T

p.600 V/E

25.68

183

missense variant

  1. LBC liquid based cytology sample, FFPE formalin fixed paraffin embedded specimen