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Table 2 Frequency of rare and null alleles in the different countries

From: Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network

 

Argentina (n = 2,941)

Brazil (n = 2,620)

Chile (n = 3,352)

Colombia (n = 2,057)

LATAM (n = 10,520)

Spain (n = 18,272)

Turkey (n = 2,035)

All (n = 30,827)

Any mutation:

384 (15.4)

745 (28.4)

423 (12.6)

257 (12.5)

1809 (17.2)

7579 (41.5)

140 (6.9)

9528 (30.9)

Rare alleles

20 (0.8; 5.2)

66 (2.5; 8.9)

33 (1.0; 7.8)

6 (0.3; 2.3)

125 (1.2; 6.9)

576 (3.2; 7.6)

76 (3.7; 54.6)

777 (2.5; 8.2)

Null alleles

1 (0.0; 0.3)

6 (0.2; 0.8)

3 (0.1; 0.7)

0 (0.0; 0.0)

10 (0.1; 0.6)

31 (0.2; 0.4)

2 (0.1; 1.4)

43 (0.1; 0.4)

Rare + Null

21 (0.7; 5.4)

72 (2.7;9.6)

36 (1.0; 8.5)

6 (0.2; 2.3)

135 (1.2; 7.4)

607 (5.7; 8.0)

78 (3.8; 55.7)

820 (2.7; 8.6)

  1. Data expressed as absolute numbers with percentages in parenthesis; first value showing percentages referred to the total number of samples in the geographical area, second value showing percentages referred to the total number of cases with mutations in the geographical area