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Table 3 Mutations in discordant samples identified by next generation sequencing using a panel of 50 cancer-associated genes

From: Accurate detection of KRAS, NRAS and BRAF mutations in metastatic colorectal cancers by bridged nucleic acid-clamp real-time PCR

Sample No.

Position

Reference

Variant

Gene

Nucleotide changes

Deduced amino acid changes

VAF (%)

coverage

#1

chr12:25380277

GA

TT

KRAS

c.180_181delTCinsAA

Q61K

23.5

1982

#2

chr1:115256506

C

T

NRAS

c.205G > A

D69N

17.5

1995

 

chr14:105246470

C

T

AKT1

c.130G > A

D44N

5.5

2000

 

chr17:7578431

G

A

TP53

c.499C > T

Q167*

21.1

1970

 

chr19:1223030

C

T

STK11

c.967C > T

P323S

5.1

2000

 

chr19:1223054

C

T

STK11

c.991C > T

R331W

5.1

1997

#3

chr12:25378562

C

T

KRAS

c.436G > A

A146T

28.3

1161

 

chr1:115258747

C

T

NRAS

c.35G > A

G12D

9.1

1998

 

chr3:37067240

T

A

MLH1

c.1151 T > A

V384D

21.6

1998

 

chr5:112173917

C

T

APC

c.2626C > T

R876*

16.1

2000

 

chr5:112175589

C

T

APC

c.4298C > T

P1433L

7.4

2000

 

chr13:49033902

T

C

RB1

c.2039 T > C

I680T

6.5

1628

 

chr17:7577551

C

A

TP53

c.730G > T

G244C

12.6

2000

 

chr17:7578479

G

A

TP53

c.451C > T

P151S

18.0

2000

 

chr19:1223125

C

G

STK11

c.1062C > G

F354 L

41.2

818

  1. Bold text indicates mutations covered by BNA-clamp and PCR-rSSO
  2. VAF variant allele frequency