Table S1. The genotype and phenotype of 111 patients in Uygur HPA patients.
| Case No. | Variant_1 | Zygosity | Variant_2 | Zygosity | Variant_3 | Zygosity | Age at diagnosis (month) | Gender | Blood Phe levels at diagnosis (mg/dL) | Diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|
| 1a | PAH c.311C > A, p.A104D | Hom | PAH c.158G > A, p.R53H | Het | 2 | Male | 14.6 | mPKU | ||
| 2 | PAH c.311C > A, p.A104D | Hom | 2.5 | Male | 13.4 | mPKU | ||||
| 3a | PAH c.311C > A, p.A104D | Hom | PAH c.728G > A, p.R243Q | Het | 9 | Male | 13.9 | mPKU | ||
| 4 | PAH c.311C > A, p.A104D | Hom | 13 | Female | 14 | mPKU | ||||
| 5 | PAH c.782G > A, p.R261Q | Hom | 2 | Male | 24.32 | cPKU | ||||
| 6 | PAH c.782G > A, p.R261Q | Hom | 3 | Female | 16.63 | mPKU | ||||
| 7 | PAH c.782G > A, p.R261Q | Hom | 2 | Male | 15.04 | mPKU | ||||
| 8 | PAH c.208_210delTCT, p.S70del | Hom | 7.5 | Female | 11.51 | mPKU | ||||
| 9 | PAH c.208_210delTCT, p.S70del | Hom | 2.5 | Male | 12.93 | mPKU | ||||
| 10 | PAH c.208_210delTCT, p.S70del | Hom | 2 | Male | 14 | mPKU | ||||
| 11 | PAH c.1316-1G > A, IVS13-2G > A, IVS13-2G > A | Hom | 3.5 | Male | 19.74 | mPKU | ||||
| 12 | PAH c.1316-1G > A, IVS13-2G > A, IVS13-2G > A | Hom | 4 | Male | 18.5 | mPKU | ||||
| 13 | PAH c.1316-1G > A, IVS13-2G > A, IVS13-2G > A | Hom | 3 | Female | 17.37 | mPKU | ||||
| 14 | PAH c.1238G > C, p.R413P | Hom | 2 | Female | 23.87 | cPKU | ||||
| 15 | PAH c.1238G > C, p.R413P | Hom | 15 | Female | 19.55 | mPKU | ||||
| 16a | PAH c.1238G > C, p.R413P | Hom | PAH c.809G > A, p.R270K | Het | PAH c.838G > A, p.E280K | Het | 2 | Female | 10.41 | mPKU |
| 17 | PAH c.1066-11G > A, IVS10-11G > A | Hom | 3 | Female | 27.74 | cPKU | ||||
| 18 | PAH c.1066-11G > A, IVS10-11G > A | Hom | 2 | Male | 21.43 | cPKU | ||||
| 19a | PAH c.1066-11G > A, IVS10-11G > A | Hom | PAH c.574A > T, p.K192* | Het | 5 | Female | 30.63 | cPKU | ||
| 20 | PAH c.1301C > A, p.A434D | Hom | 5 | Male | 11.2 | mPKU | ||||
| 21 | PAH c.1301C > A, p.A434D | Hom | 33 | Male | 14.35 | mPKU | ||||
| 22 | PAH c.913-7A > G, IVS8-7A > G | Hom | 4.5 | Male | 31.71 | cPKU | ||||
| 23 | PAH c.800A > T, p.G267L | Hom | 9 | Female | 6.94 | mPKU | ||||
| 24 | PAH c.781C > T, p.R261* | Hom | 3 | Female | 24.38 | cPKU | ||||
| 25 | PAH c.611A > G, p.EX6-96A > G | Hom | 2 | Female | 25.4 | cPKU | ||||
| 26 | PAH c.498C > G, p.Y166* | Hom | 1.5 | Female | 28.24 | cPKU | ||||
| 27 | PAH c.482T > C, p.F161S | Hom | 3 | Male | 30.9 | cPKU | ||||
| 28a | PAH c.441+5G > T, IVS4+5G > T | Hom | PAH c.1199+1G > C, IVS11+1G > C | Het | 7.5 | Male | 26.99 | cPKU | ||
| 29 | PAH c.440C > T, p.P147L | Hom | 4.5 | Male | 18.92 | mPKU | ||||
| 30 | PAH c.331C > T, p.R111* | Hom | 6 | Female | 17.12 | mPKU | ||||
| 31 | PAH c.265C > A, p.P89T | Hom | 4 | Male | 9.62 | mPKU | ||||
| 32 | PAH c.158G > A, p.R53H | Hom | 4 | Female | 10.22 | mPKU | ||||
| 33 | PAH c.143T > C, p.L48S | Hom | 9 | Male | 6.28 | mPKU | ||||
| 34a | PAH c.1289T > C, p.L430P | Hom | PAH c.158G > A, p.R53H | Het | 5 | Male | 6.36 | mPKU | ||
| 35a | PAH c.1262T > C, p.I421T | Hom | PAH c.158G > A, p.R53H | Hom | 4 | Female | 4.95 | MHP | ||
| 36 | PAH c.1252A > C, p.T418P | Hom | 4 | Male | 7.79 | mPKU | ||||
| 37 | PAH c.1222C > T, p.R408W | Hom | 4 | Male | 32.08 | cPKU | ||||
| 38 | PAH c.1199+1G > C, IVS11+1G > C | Hom | 3 | Female | 26.46 | cPKU | ||||
| 39 | PAH c.1042C > G, p.L348V | Hom | 2 | Female | 22 | cPKU | ||||
| 40 | PAH c.1238G > C, p.R413P | Het | PAH c.781C > T, p.R261* | Het | 4 | Male | 26.54 | cPKU | ||
| 41a | PAH c.1238G > C, p.R413P | Het | PAH c.311C > A, p.A104D | Het | PAH c.688G > A, p.V230I | Het | 5 | Female | 15.1 | mPKU |
| 42 | PAH c.1238G > C, p.R413P | Het | PAH c.311C > A, p.A104D | Het | 5 | Female | 26.18 | cPKU | ||
| 43a | PAH c.1238G > C, p.R413P | Het | PAH c.842+2T > A, IVS7+2T > A | Het | PAH c.158G > A, p.R53H | Het | 5 | Female | 16.36 | mPKU |
| 44 | PAH c.1238G > C, p.R413P | Het | PAH c.688G > A, p.V230I | Het | 6 | Female | 3.22 | MHP | ||
| 45a | PAH c.1238G > C, p.R413P | Het | PAH c.781C > T, p.R261* | Het | PAH c.1068C > A, p.Y356* | Het | 5 | Female | 34.34 | cPKU |
| 46 | PAH c.1238G > C, p.R413P | Het | PAH c.1316-1G > A, IVS13-2G > A | Het | 2 | Male | 22.52 | cPKU | ||
| 47 | PAH c.1238G > C, p.R413P | Het | PAH c.781C > T, p.R261* | Het | 5 | Female | 21.66 | cPKU | ||
| 48 | PAH c.1238G > C, p.R413P | Het | PAH c.32T > A, p.L11* | Het | 3 | Male | 25.25 | cPKU | ||
| 49 | PAH c.1238G > C, p.R413P | Het | PAH c.728G > A, p.R243Q | Het | 36 | Male | 23.12 | cPKU | ||
| 50 | PAH c.1238G > C, p.R413P | Het | PAH c.838G > A, p.E280K | Het | 3 | Male | 18.63 | mPKU | ||
| 51b | PAH c.1238G > C, p.R413P | Het | 4 | Male | 11.79 | mPKU | ||||
| 52 | PAH c.728G > A, p.R243Q | Het | PAH c.1316-1G > A, IVS13-2G > A | Het | 3 | Male | 29.86 | cPKU | ||
| 53 | PAH c.728G > A, p.R243Q | Het | PAH c.544G > A, p.E182K | Het | 2 | Male | 15.77 | mPKU | ||
| 54 | PAH c.728G > A, p.R243Q | Het | PAH c.1066-11G > A, IVS10-11G > A | Het | 4.5 | Male | 13.25 | mPKU | ||
| 55b | PAH c.728G > A, p.R243Q | Het | 4.5 | Male | 7.24 | mPKU | ||||
| 56 | PAH c.728G > A, p.R243Q | Het | PAH c.1139C > T, p.T380M | Het | 6 | Female | 3.5 | MHP | ||
| 57 | PAH c.728G > A, p.R243Q | Het | PAH c.1200-2A > C, IVS12-2A > C | Het | 2 | Female | 24.69 | cPKU | ||
| 58 | PAH c.728G > A, p.R243Q | Het | 9.5 | Male | 21.95 | cPKU | ||||
| 59 | PAH c.728G > A, p.R243Q | Het | PAH c.887A > G, p.D296G | Het | 4 | Female | 29.07 | cPKU | ||
| 60 | PAH c.728G > A, p.R243Q | Het | PAH c.1289T > C, p.L430P | Het | 5 | Male | 16.5 | mPKU | ||
| 61 | PAH c.311C > A, p.A104D | Het | PAH c.688G > A, p.V230I | Het | 2.5 | Female | 11.2 | mPKU | ||
| 62b | PAH c.311C > A, p.A104D | Het | 7 | Male | 4.16 | MHP | ||||
| 63 | PAH c.311C > A, p.A104D | Het | PAH c.754C > T, p.R252W | Het | 5 | Female | 21.3 | cPKU | ||
| 64 | PAH c.311C > A, p.A104D | Het | PAH c.1200-2A > C, IVS12-2A > C | Het | 4 | Male | 28 | cPKU | ||
| 65 | PAH c.311C > A, p.A104D | Het | PAH c.722G > A, p.R241H | Het | 2.5 | Female | 11.03 | mPKU | ||
| 66 | PAH c.311C > A, p.A104D | Het | PAH c.898G > T, p.A300S | Het | 3 | Female | 6.6 | mPKU | ||
| 67 | PAH c.311C > A, p.A104D | Het | PAH c.1301C > A, p.A434D | Het | 6 | Female | 6.99 | mPKU | ||
| 68 | PAH c.311C > A, p.A104D | Het | PAH c.1200-2A > C, IVS12-2A > C | Het | 11 | Male | 10.5 | mPKU | ||
| 69 | PAH c.1066-11G > A, IVS10-11G > A | Het | PAH c.898G > T, p.A300S | Het | 12 | Male | 7.24 | mPKU | ||
| 70 | PAH c.1066-11G > A, IVS10-11G > A | Het | PAH c.1200-2A > C, IVS12-2A > C | Het | 8 | Female | 29.1 | cPKU | ||
| 71 | PAH c.1066-11G > A, IVS10-11G > A | Het | PAH c.1102G > A, p.E368K | Het | 7 | Male | 9.5 | mPKU | ||
| 72 | PAH c.1066-11G > A, IVS10-11G > A | Het | PAH c.1301C > A, p.A434D | Het | 3 | Female | 10.48 | mPKU | ||
| 73 | PAH c.1066-11G > A, IVS10-11G > A | Het | 11 | Female | 19.6 | mPKU | ||||
| 74* | PAH c.158G > A, p.R53H | Het | PAH c.308G > A, p.G103D | Het | PAH c.1066-11G > A, IVS10-11G > A | Het | 4 | Female | 29.32 | cPKU |
| 75 | PAH c.158G > A, p.R53H | Het | PAH c.590T > A, p.L197* | Het | 7 | Male | 17.16 | mPKU | ||
| 76 | PAH c.158G > A, p.R53H | Het | PAH c.898G > T, p.A300S | Het | 1.5 | Male | 4.23 | MHP | ||
| 77 | PAH c.158G > A, p.R53H | Het | PAH c.728G > A, p.R243Q | Het | 6 | Male | 3.7 | MHP | ||
| 78* | PAH c.158G > A, p.R53H | Het | PAH c.688G > A, p.V230I | Het | PAH c.842+2T > A, IVS7+2T > A | Het | 11 | Male | 4.14 | MHP |
| 79 | PAH c.688G > A, p.V230I | Het | PAH c.1223G > A, p.R408Q | Het | 3 | Female | 4.54 | MHP | ||
| 80 | PAH c.688G > A, p.V230I | Het | PAH c.1252A > C, p.T418P | Het | 5 | Male | 3.19 | MHP | ||
| 81 | PAH c.688G > A, p.V230I | Het | PAH c.1109A > G, p.E370G | Het | 6 | Male | 6.75 | mPKU | ||
| 82 | PAH c.898G > T, p.A300S | Het | PAH c.1066-11G > A, IVS10-11G > A | Het | 3 | Male | 6.42 | mPKU | ||
| 83 | PAH c.898G > T, p.A300S | Het | PAH c.1169A > G, p.E390G | Het | 5.5 | Male | 4.24 | MHP | ||
| 84b | PAH c.898G > T, p.A300S | Het | 17 | Male | 2.96 | MHP | ||||
| 85 | PAH c.1169A > G, p.E390G | Het | PAH c.346_347_delGA, p.K115 > Hfs | Het | 12 | Male | 10.98 | mPKU | ||
| 86 | PAH c.1169A > G, p.E390G | Het | PAH c.1197A > T, p.V399V | Het | 5 | Male | 13.87 | mPKU | ||
| 87* | PAH c.1200-2A > C, IVS12-2A > C | Het | PAH c.311C > A, p.A104D | Het | PAH c.611A > G, p.EX6-96A > G | Het | 5 | Female | 25.34 | cPKU |
| 88 | PAH c.1200-2A > C, IVS12-2A > C | Het | PAH c.440C > T, p.P147L | Het | 2 | Female | 21.83 | cPKU | ||
| 89 | PAH c.1197A > T, p.V399V | Het | PAH c.1199+1G > C, IVS11+1G > C | Het | 2 | Male | 16.73 | mPKU | ||
| 90 | PAH c.1197A > T, p.V399V | Het | PAH c.728G > A, p.R243Q | Het | 2 | Female | 37.85 | cPKU | ||
| 91 | PAH c.1222C > T, p.R408W | Het | PAH c.355C > T, p.P119S | Het | 10 | Female | 14.72 | mPKU | ||
| 92 | PAH c.1222C > T, p.R408W | Het | PAH c.1199+1G > C, IVS11+1G > C | Het | 5.5 | Female | 23.46 | cPKU | ||
| 93 | PAH c.331C > T, p.R111* | Het | PAH c.1199+1G > C, IVS11+1G > C | Het | 3.5 | Male | 17.92 | mPKU | ||
| 94 | PAH c.331C > T, p.R111* | Het | PAH c.728G > A, p.R243Q | Het | 3 | Female | 26.36 | cPKU | ||
| 95 | PAH c.355C > T, p.P119S | Het | PAH c.1180G > C, p.D394H | Het | 6 | Female | 3.11 | MHP | ||
| 96 | PAH c.355C > T, p.P119S | Het | PAH c.728G > A, p.R243Q | Het | 2 | Male | 4.77 | MHP | ||
| 97b | PAH c.722G > A, p.R241H | Het | 6 | Female | 4.03 | MHP | ||||
| 98 | PAH c.722G > A, p.R241H | Het | PAH c.781C > T, p.R261* | Het | 2 | Male | 7.26 | mPKU | ||
| 99 | PAH c.727C > T, p.R243* | Het | PAH c.1200-2A > C, IVS12-2A > C | Het | 7.5 | Female | 19.87 | mPKU | ||
| 100 | PAH c.727C > T, p.R243* | Het | PAH c.842C > T, p.P281L | Het | 6 | Male | 26.55 | cPKU | ||
| 101 | PAH c.1316-1G > A, IVS13-2G > A | Het | PAH c.898G > T, p.A300S | Het | 3 | Female | 7.99 | mPKU | ||
| 102 | PAH c.482T > C, p.F161S | Het | PAH c.611A > G, p.EX6-96A > G | Het | 1.5 | Female | 13 | mPKU | ||
| 103b | PAH c.506G > A, p.R169H | Het | 7 | Female | 4.61 | MHP | ||||
| 104 | PAH c.544G > A, p.E182K | Het | PAH c.1316-1G > A, IVS13-2G > A | Het | 8 | Female | 6.1 | mPKU | ||
| 105 | PAH c.611A > G, p.EX6-96A > G | Het | PAH c.776C > T, p.A259V | Het | 3 | Female | 31.9 | cPKU | ||
| 106 | PAH c.1068C > A, p.Y356* | Het | PAH c.544G > A, p.E182K | Het | 3 | Female | 7.4 | mPKU | ||
| 107 | PAH c.473G > A, p.R158Q | Het | PAH c.611A > G, p.EX6-96A > G | Het | 2.5 | Male | 37.2 | cPKU | ||
| 108 | PAH c.764T > C, p.L255S | Het | PAH c.1042C > G, p.L348V | Het | 2 | Female | 22.46 | cPKU | ||
| 109 | PAH c.1301C > A, p.A434D | Het | PAH c.1304A > T, p.D435V | Het | 2 | Female | 4.18 | MHP | ||
| 110b | PAH c.694C > T, p.Q232* | Het | 3 | Male | 16.6 | mPKU | ||||
| 111 | QDPR c.508G > A, p.G170S | Hom | 14 | Female | 13.41 | DHPR |
a, detected three variants; b, detected only one variant. HPA, hyperphenylalaninemia.