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Table 2 Moderate-impact variants identified in the G6PD gene

From: Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

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  
  1. Novel variants are denoted with a dagger (†). Variants are described in relation to NM_001042351.3; those denoted with (‡) are described in relation to NM_000402.4. CDS: coding sequence