Table 1 Allelic frequency of the genetics variants. Protein change, classification according to APV and the comparison of the allelic frequency of Ecuador and the global allelic frequency of each genetic variant present in the study
Variant | ACMG classification | Classification according APV | Allele frequency Ecuador | Allele frequency global |
|---|---|---|---|---|
c.1066-11G > A | Pathogenic | cPKU | 2.63 | 6.434 |
c.1161 C > A (p.Tyr387Ter) | Pathogenic | cPKU | 2.63 | 0.012 |
c.1162G > A (p.Val388Met) | Pathogenic | cPKU | 2.63 | 1.408 |
c.1208 C > T (p. Ala403Val) | Pathogenic | MHP | 2.63 | 2.133 |
c.1241 A > G (p.Tyr414Cys) | Pathogenic | mPKU | 2.63 | 2.303 |
c.1243G > A (p.Asp415Asn) | Pathogenic | MHP | 2.63 | 0.370 |
c.165T > G (p.Phe55Leu) | Pathogenic | cPKU | 2.63 | 0.114 |
c.331 C > T (p.Arg111Ter) | Pathogenic | cPKU | 2.63 | 1.034 |
c.60 + 5G > T | Pathogenic | cPKU | 2.63 | 0.247 |
c.140G > A (p.Ala47Val) | Pathogenic | mPKU | 5.26 | 0.022 |
c.842 C > T (p.Pro281Leu) | Pathogenic | cPKU | 5.26 | 3.118 |
CNV EXON 5 DELETION | Pathogenic | 5.26 | ||
c.824 C > G (p.Pro275Arg) | Pathogenic | mPKU or cPKU? | 7.89 | 0.037 |
c.441 + 5G > T | Pathogenic | cPKU | 13.16 | 1.013 |
c.1045T > C (p.Ser349Pro) | Pathogenic | cPKU | 15.79 | 0.843 |
c.754 C > T (p.Arg252Trp) | Pathogenic | cPKU | 23.68 | 1.507 |