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Table 1 SMARCA4 mutation in sccohts

From: Single-cell RNA sequencing reveals the intra-tumoral heterogeneity and immune microenvironment of small cell carcinoma of the ovary, hypercalcemic type

  

Germline mutation

 

Somatic mutation 1

 

Somatic mutation 2

SMARCA4

IHC

Sample ID

 

Gene

Protein

 

Gene

Protein

 

Gene

Protein

SCC-01

 

c.3546 + 2T > C

Not applicable

 

LOH

  

Not applicable

 

Loss

SCC-02

 

Not present

  

c.2973 + 1G > A

Not applicable

 

LOH

 

Loss

SCC-03

 

Not present

  

c.939_940insT

p.A314fs

 

c.2631 C > A

p.Y877*

Loss

SCC-04

 

Not present

  

Not present

  

Not present

 

Normal

SCC-05

 

Not present

  

c.4170 + 1G > T

Not applicable

 

LOH

 

Loss

SCC-06

 

Not present

  

Not present

  

Not present

 

Normal

SCC-07

 

c.1742_1745del

p.K581fs

 

LOH

  

Not applicable

 

Loss

SCC-08

 

Not present

  

c.3081 + 1G > T

Not applicable

 

LOH

 

Loss

SCC-09

 

c.1119–2 A > G

Not applicable

 

LOH

  

Not applicable

 

Loss

SCC-10

 

Not available

  

c.2123 + 1G > T

Not applicable

 

c.2859 + 5G > A

Not applicable

Loss

SCC-11

 

Not available

  

c.2506–2 A > G

Not applicable

 

LOH

 

Loss

SCC-12

 

Not present

  

c.917_941del

p.Gln306fs

 

Not present

 

Loss

SCC-13

 

Not present

  

c.1709_1722del

p.Gln570ProfsTer76

 

LOH

 

Loss

SCC-14

 

c.274 C > T

p.Gln92Ter

 

LOH

  

Not applicable

 

Loss

SCC-15

 

c.3229 C > T

p.Arg1077Ter

 

LOH

  

Not applicable

 

Loss

  1. Not applicable, germline and somatic mutations already identified; not available, DNA not available; not present, no mutation present; IHC, immunohistochemistry