Table 1 The detection rate of G6PD variants in infants with pathologic jaundice
Nucleotide changed | Protein changed | No. of the detected variants | Variant proportion (n = 439) | Variant frequency (n = 1565) | ClinVar Variation ID | HGMD Accession Number |
|---|---|---|---|---|---|---|
NM_001042351.2:c.95A > G NM_000402.4:c.185A > G | NP_001035810.1:p.His32Arg NP_000393.4:p.His62Arg | 50 | 11.39% | 3.19% | 10,403 | CM910158 |
NM_001042351.2:c.466G > A NM_000402.4:c.556G > A | NP_001035810.1:p.Glu156Lys NP_000393.4:p.Glu186Lys | 16 | 3.64% | 1.02% | 10,364 | CM880031 |
NM_001042351.2:c.871G > A NM_000402.4:c.961G > A | NP_001035810.1:p.Val291Met NP_000393.4:p.Val321Met | 32 | 7.29% | 2.04% | 10,386 | CM930275 |
NM_001042351.2:c.1004 C > A NM_000402.4:c.1094C > A | NP_001035810.1:p.Ala335Asp NP_000393.4:p.Ala365Asp | 12 | 2.73% | 0.77% | NA | CM950506 |
NM_001042351.2:c.1024C > T NM_000402.4:c.1114C > T | NP_001035810.1:p.Leu342Phe NP_000393.4:p.Leu372Phe | 28 | 6.38% | 1.79% | 10,405 | CM930276 |
NM_001042351.2:c.1118 T > C NM_000402.4: c.1208 T > C | NP_001035810.1:p.Phe373Ser NP_000393.4:p.Phe403Ser | 3 | 0.68% | 0.19% | NA | NA |
NM_001042351.2:c.1192 G > A NM_000402.4:c.1282G > A | NP_001035810.1:p.Glu398 Lys NP_000393.4:p.Glu428Lys | 12 | 2.73% | 0.77% | NA | CM910162 |
NM_001042351.2:c.1376G > T NM_000402.4:c.1466G > T | NP_001035810.1:p.Arg459Leu NP_000393.4:p.Arg489Leu | 140 | 31.89% | 8.95% | 100,058 | CM910163 |
NM_001042351.2:c.1388G > A NM_000402.4:c.1478G > A | NP_001035810.1:p.Arg463His NP_000393.4:p.Arg493His | 146 | 33.26% | 9.33% | 100,059 | CM910164 |