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Table 3 The percentile representation of investigated genetic variants in the cohort of patients suspected of SCADD in comparison with control group A

From: An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Genotype

Wild type

c.511C>T

c.625G>A

c.310_312delGAG

c.1138C>T

SCADD patients (n = 62)

1.6%

0.8%

11.3%

58.1%

28.2%

Control group A (n = 50)

70.0%

4.0%

25.0%

1.0%

–

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BMC Medical Genetics

ISSN: 1471-2350

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