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Table 1 Nominal and actual results of the mutation analyses of KIT exons 9 and 11 and PDGFRA exon 18 performed in trial 1.

From: Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors

sample

exon

nominal result

Lab A

Lab Ba

Lab Ca

Lab D

Lab Ea

Lab F

T1.1

KIT 11

c.1670_1675del6

      
  

p.W557_V559delinsF

  

p.W557_K558del

 

p.W557_V559del

 

T1.2

KIT 9

c.1510_1515dup6

      
  

p.A502_Y503dup

      

T1.3

KIT 11

c.1714_1740dup27

     

c.wild-type

  

p.D572_H580dup

     

p.wild-type

T1.4

KIT 11

c.wild-type

    

c.1690_1692del

 
  

p.wild-type

    

p. N564del

 
 

PDGFRA 18

c.2527_2538del12

  

c.wild-type

c.2464G>A

c.wild-type

 
  

p.I843_D846del

p.D842_H845del

 

p.wild-type

p.R822H

p.wild-type

 

T1.5

KIT 9,11

c.wild-type

      
 

PDGFRA 18

p.wild-type

      

T1.6

PDGFRA 18

c.2525A>T

     

c.wild-type

  

p.D842V

     

p.wild-type

T1.7

KIT 9,11

c.wild-type

      
 

PDGFRA 18

p.wild-type

      

T1.8

KIT 9,11

c.wild-type

      
 

PDGFRA 18

p.wild-type

      

T1.9

KIT 9,11

c.wild-type

      
 

PDGFRA 18

p.wild-type

      

T1.10

KIT 11

c.1676T>A

    

c.wild-type

 
  

p.V559D

    

p.wild-type

 
  1. Only the nominal results of the relevant exons are given, other exons are wild-type; for the individual panel labs only the actual results differing from the nominal results are denoted on DNA and protein level; matching results are not shown.
  2. a changes in DNA sequence were not specified in Labs B, C and E
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BMC Medical Genetics

ISSN: 1471-2350

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