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Table 2 Copy number variation data in controls and LFS/LFL patients classified according to TP53 mutation type

From: Number of rare germline CNVs and TP53 mutation types

 

Controls

p.R337H carriers

DBD mutation carriers

Number of individuals

100

12

9

Number of CNVs

702

92

66

Common

679

89

56

Rare

23

3

10

Average number of all CNVs per diploid genome

7.0±3.1

7.7±2.2

7.3±2.5

Average number of rare CNVs per diploid genome

0.2±0.4

0.2±0.6

1.1±1.3 a

Proportion of rare/common CNVs

0.034

0.034 b

0.179 c

  1. a. difference between controls and DBD mutation carriers (p=0.0026**).
  2. b. difference between p.R337H and DBD mutation carriers (p=0.0156*).
  3. c. difference between controls and DBD mutation carriers (p=0.0002***).
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172