Table 2 Moderate-impact variants identified in the G6PD gene
Position | rs ID | Variant name | CDS substitution | Amino acid substitution | Exon | CADD score | HGMD* | Frequency in QGP | Frequency in GME | Frequency in gnomAD |
|---|---|---|---|---|---|---|---|---|---|---|
† 153760614 | – | – | c.1351C > T | p.His451Tyr | 11 | 25.6 | – | 0.00016537 | ||
153761219 | rs868950643 | – | c.989G > A | p.Arg330His | 9 | 7.666 | – | 0.0116587 | ||
153761259 | rs137852339 | G6PD Kalyan | c.949G > A | p.Glu317Lys | 9 | 22.6 | DM | 0.00090954 | 0.001664 | |
153761811 | rs137852318 | G6PD Modena | c.844G > C | p.Asp282His | 8 | 24.8 | DM | 0.00008268 | 0.000865 | |
153762634 | rs5030868 | G6PD Mediterranean | c.563C > T | p.Ser188Phe | 6 | 24.2 | DM | 0.0563089 | 0.02569 | 0.003097 |
153762661 | rs281860640 | - | c.536G > A | p.Ser179Asn | 6 | 25.9 | DM | 0.00016537 | ||
153763402 | rs137852313 | G6PD Ilesha | c.466G > A | p.Glu156Lys | 5 | 8.019 | DM | 0.0010749 | 0.000313 | |
153763423 | rs782669677 | – | c.445G > A | p.Ala149Thr | 5 | 10.11 | DM | 0.00024805 | 0.00001647 | |
153763492 | rs1050829 | G6PD A + | c.376A > G | p.Asn126Asp | 5 | 0.037 | DM | 0.0194311 | 0.027759 | 0.029 |
† 153764192 | – | – | c.227C > A | p.Thr76Lys | 4 | 18.76 | - | 0.00008268 | ||
153764198 | – | – | c.221G > C | p.Arg74Pro | 4 | 10.28 | – | 0.00107491 | ||
153764371 | rs76645461 | G6PD Aures | c.143 T > C | p.Ile48Thr | 3 | 18.09 | DM | 0.0038035 | 0.00276 | 0.000008237 |
153764383 | rs78478128 | G6PD Orissa | c.131C > G | p.Ala44Gly | 3 | 28.9 | – | 0.00016537 | 0.000272 | |
‡153775015 | rs782006658 | – | c.71G > T | p.Arg24Leu | 1 | 12.05 | – | 0.00041377 | 0.001074 | |
153775066 | rs782150651 | – | c.20C > T | p.Ala7Val | 1 | 22.2 | – | 0.00049718 | 0.00003676 | |
‡†153775079 | – | – | c.7C > T | p.Arg3Trp | 1 | 19.35 | – | 0.00024888 | – |