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Table 1 List of mutations in this cohort of Fabry disease patients

From: Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients

# of patientsExonMolecularMutationTypeDescriptionACMG Classification [16]Clinical
Classification
Amenability
83c. 424 C > T (p. Cys142Arg)C142RmissenseTopaloglu et al. 1999 [25]1PathogenicNo
83c. 467 C > A (p.Ala156Asp)A156DmissenseTuraça et al. 2012 [26]1PathogenicNo
33c. 540 G > T (p. Leu180Phe)L180FmissenseSerebrinsky et al. 2012 [27]1PathogenicYes
25c. 679 C > T (p. Arg227*)R227XnonsenseDavies et al. 1993 [28]1PathogenicNo
35c. 785 G > A (p. Trp262*)W262XnonsenseShabbeer et al. 2006 [29]1PathogenicNo
56c. 812 G > C (p. Gly271Ala)G271AmissenseRosa Neto 2014 [30]1PathogenicYes
16c. 877 C > T (p. Pro293Ser)P293SmissenseCooper et al. 2000 [31]1PathogenicNo
77c. 1235_1236delCT (p. Tyr264Serfs*)Y264SXdeletionBlaydon et al. 2001 [32]1PathogenicNo
  1. ACMG American College of Medical Genetics