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Table 1 Spectrum of CYP21A2 variants in Asian patients and in other ethnic groups

From: Genetic aetiology of primary adrenal insufficiency in Chinese children

Country Sample c.293-13C > G (%) Del (%) I173N (%) G111_113VfsX4 (%) R483PfsX58 (%) R357W (%) P31L (%) Q319X (%) E6 cluster (%) V282L (%) Other (%)
Croatia [27] 93 34.9 18.8 11.3 2.2 0.0 16.7 5.9 4.8 2.2 0.0 3.2
Brazil [37] 480 21.1 9.0 7.5 1.8 0.0 5.4 0.6 6.1 1.2 26.6 20.7
Serbia [42] 61 18.5 13.0 2.8 1.4 0.0 11.1 13.0 4.6 0.9 4.6 30.1
Argentina [35] 454 20.6 11.2 8.2 0.8 1.5 4.2 0.7 6.7 2.0 26.2 19.7
UK [41] 153 30.3 45.0 7.0 0.0 0.0 16.7 0.0 4.8 0.0 0.0 3.8
Tunisia [36] 50 6.0 22.0 8.0 2.0 0.0 1.0 1.0 26.0 1.0 12.0 9.0
Germany + Austria [50] 538 29.2 29.6 13.1 2.5 0.0 4.1 2.6 4.6 1.5 7.8 5.0
China [33] 43 20.9 8.6 36.0 1.2 0.0 2.3 7.0 7.0 2.3 4.7 10.0
China [32] 230 35.0 19.6 14.3 4.3 0.0 5.9 0.2 4.6 1.3 0.2 14.6
China [31] 30 38.3 15.0 11.7 0.0 0.0 5.0 1.7 1.7 3.3 0.0 23.3
China [30] 35 27.0 27.0 17.6 1.4 0.0 9.5 0.0 5.4 1.4 1.4 9.3
China [34] 166 42.5 23.8 12.7 3.0 2.1 6.0 0.0 5.1 0.9 0.0 3.9
China (this study) 59 31.4 18.6 17.0 5.1 4.2 3.4 1.7 0.9 0.9 0.9 16.1