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Table 1 Mutations detected with Illumina TruSight Tumor 500 panel. Concerning all mutations as well as copy number alterations see Supplemental Table 1

From: SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report

Gene

Mutation

Location 1

Location 2

Variant cDNA

KRAS

p.Gly12Asp

24.8 %

61.6 %

c.35G > A

TP53

p.spl?

13.7 %

32.6 %

c.993 + 1G > T

POLE

p.spl?

4.8 %

16.5 %

c.4729-1G > A

PBRM1

p.Leu526Val

23.9

49.1

c.1576T > G

ARID1B

p.Ser1869Cys

/

67.4

c.5606 C > G

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Diagnostic Pathology

ISSN: 1746-1596

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