Table 2. The most frequent alleles in the BIOPKU database occurring in ≥0.50% of all patients.
| Nucleotide aberration | Protein variant | Allele frequency (%) |
|---|---|---|
| c.1222C>T | p.Arg408Trp | 10.32 |
| c.1066-11G>A | p.(?) | 8.71 |
| c.782G>A | p.Arg261Gln | 6.67 |
| c.1315+1G>A | p.(?) | 4.64 |
| c.842C>T | p.Pro281Leu | 3.73 |
| c.1241A>G | p.Tyr414Cys | 3.67 |
| c.143T>C | p.Leu48Ser | 3.64 |
| c.194T>C | p.Ile65Thr | 3.17 |
| c.473G>A | p.Arg158Gln | 2.94 |
| c.1208C>T | p.Ala403Val | 2.28 |
| c.1162G>A | p.Val388Met | 1.97 |
| c.728G>A | p.Arg243Gln | 1.91 |
| c.1169A>G | p.Glu390Gly | 1.64 |
| c.898G>T | p.Ala300Ser | 1.55 |
| c.838G>A | p.Glu280Lys | 1.52 |
| c.754C>T | p.Arg252Trp | 1.29 |
| c.1045T>C | p.Ser349Pro | 1.26 |
| c.727C>T | p.(Arg243*) | 1.24 |
| c.165delT | p.(Phe55Leufs*6) | 1.11 |
| c.1042C>G | p.Leu348Val | 1.05 |
| c.441+5G>T | p.(?) | 1.04 |
| c.781C>T | p.(Arg261*) | 1.02 |
| c.1055delG | p.(Gly352Valfs*48) | 0.86 |
| c.814G>T | p.(Gly272*) | 0.85 |
| c.168+5G>C | p.(?) | 0.83 |
| c.331C>T | p.(Arg111*) | 0.78 |
| c.1223G>A | p.Arg408Gln | 0.68 |
| c.721C>T | p.Arg241Cys | 0.66 |
| c.611A>G | p.(Tyr204Cys) | 0.66 |
| c.204A>T | p.Arg68Ser | 0.63 |
| c.1068C>A | p.(Tyr356*) | 0.55 |
| c.734T>C | p.Val245Ala | 0.53 |
| c.722G>A | p.Arg241His | 0.50 |
The reference accession number for the PAH sequence is ENSG00000171759; RefSeq NM_000277.1.