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Table 3 Mutation analysis intramuscular myxoma

From: Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes

Sample

Taqman assay (WT/Mut/Inc)

smMIP assay (WT/Mut/Inc)

Mutation

Amino acid substitution

Mutant allele frequency (smMIP)

Concordance between Taqman and smMIP assay

1

WT

WT

   

Concordant

2

Mut

Mut

c.601C > T

p.R201C

5%

Concordant

3

WT

WT

   

Concordant

4

WT

WT

   

Concordant

5a

WT

Mut

c.680A > G

p.Q227R

27%

Mutation not included in TaqMan assay

6

WT

WT

   

Concordant

7

Mut

Mut

c.602G > A

p.R201H

13%

Concordant

8

Mut

Mut

c.602G > A

p.R201H

14%

Concordant

9

WT

WT

   

Concordant

10

Mut

Mut

c.602G > A

p.R201H

26%

Concordant

11

Mut

NA

c.601C > T

p.R201C

 

Not analyzed by smMIP

12

WT

WT

   

Concordant

13

WT

WT

   

Concordant

14

Mut

Mut

c.601C > T

p.R201C

13%

Concordant

15

Mut

Inc

c.602G > A

p.R201H

 

Insufficient quality for smMIP assay

16

WT

WT

   

Concordant

17

WT

WT

   

Concordant

18

Mut

Inc

c.602G > A

p.R201H

 

Insufficient quality for smMIP assay

19

Mut

Mut

c.602G > A

p.R201H

10%

Concordant

20

Mut

Mut

c.602G > A

p.R201H

9%

Concordant

21

Mut

NA

c.602G > A

p.R201H

 

Not analyzed by smMIP

22

Mut

Mut

c.601C > T

p.R201C

15%

Concordant

23

Mut

Mut

c.602G > A

p.R201H

19%

Concordant

24

WT

WT

   

Concordant

25

WT

WT

   

Concordant

26*

WT

Mut

c.602G > T

p.R201L

15%

Mutation not included in TaqMan assay

27

Mut

Mut

c.602G > A

p.R201H

14%

Concordant

28b

Mut

Inc

c.601C > T

p.R201C

 

Insufficient quality for smMIP assay

29b

Mut

Inc

c.601C > T

p.R201C

 

Insufficient quality for smMIP assay

30a

NA

Mut

c.602G > C

p.R201P

12%

Not analyzed by Taqman

31

NA

Mut

c.601C > T

p.R201C

13%

Not analyzed by Taqman

32a

NA

Mut

c.601C > A

p.R201S

14%

Not analyzed by Taqman

33

NA

Mut

c.601C > T

p.R201C

17%

Not analyzed by Taqman

34

NA

Mut

c.602G > A

p.R201H

7%

Not analyzed by Taqman

  1. WT: wild-type; Mut: mutation identified; Inc.: inconclusive; NA: not analyzed
  2. aSamples with novel mutations in smMIP assay which are not included in the TaqMan assay
  3. bTwo samples tested from the same patient (biopsy and excision)