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PAH polymorphisms identified in 39 patients
| Systematic name (DNA level) | Trivial name (protein effect) | Location | Number of alleles | Frequency (%) |
|---|---|---|---|---|
| c.696A>G | p.Q232Q | Exon 6 | 40 | 51.28 |
| c.735G>A | p.V245V | Exon 7 | 14 | 17.9 |
| c.912G>A | p.Q304Q | Exon 8 | 2 | 2.56 |
| c.1155C>G | p.L385L | Exon 11 | 66 | 84.61 |
| c.168+19T>C | IVS2+19T>C | Intron 2 | 5 | 6.4 |
| c.-71A>C | 5-UTR | 5-UTR | 4 | 5.1 |
| c.843T>A | p.P281P | Exon 8 | 2 | 2.56 |
| IVS3-22C>T | c.353-22C>T | Intron 3 | 2 | 2.56 |
| Number of alleles identified | 135 |
