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Table 1 High-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
† 153760419    c.1441C > G p.Pro481Ala 12 7.925   0.00008268 0.00139  
153760605 rs398123546 G6PD Union c.1360C > T p.Arg454Cys 11 34 DM 0.00008269   0.0001071
‡153760654 rs2230037 c.1311C > T p.Tyr437Tyr 11 6.988 DM? 0.284687   0.169
153760953 rs2230036 c.1116G > A p.Gln372Gln 10 4.741 0.00529188 0.00691 0.009705
† 153761006    c.1063A > G p.Ile355Val 10 6.273   0.00041342   
153761012 rs137852333 G6PD Ierapetra c.1057C > T p.Pro353Ser 10 24.8 DM 0.00033074   
153761205 rs5030869 G6PD Chatham c.1003G > A p.Ala335Thr 9 27.3 DM 0.00504382 0.00207 0.0002306
153762312 rs782118135 c.708C > T p.Thr236Thr 7 8.209 0.00024805   0.00001647
153762330 rs781917123 c.690C > T p.Ile230Ile 7 13.01 0.00016537   0.0007578
153762564 rs781866029 c.633C > T p.Leu211Leu 6 10.35 0.00008268  
153762600 rs369516039 c.597C > T p.Ile199 Ile 6 10.89 0.00008268   
153762693 rs782678149 c.504C > T p.Ile168 Ile 6 12.96 0.00016537   0.00001647
153763391 rs370918918   c.477G > C p.Met159Ile 5 18.24 DM? 0.00223251   0.001219
153763391 rs370918918   c.477G > A p.Met159Ile 5 20.2   0.00016537   
153763464 rs782322505   c.404A > C p.Asn135Thr 5 24.5 DM 0.00033074   0.000008237
† 153763512    c.356A > C p.Gln119Pro 5 2.238   0.00008268   
† 153763556   c.312C > T p.Arg104Arg 5 2.941 0.00016537   
153764155 rs781794862   c.264C > G p.Phe88Leu 4 2.678   0.00008268   0.0001565
153764210 rs782090947   c.209A > G p.Tyr70Cys 4 22.9 DM 0.00016537   0.000008237
153764217 rs1050828 G6PD Asahi c.202G > A p.Val68Met 4 27.2 DM 0.00785513 0.00275 0.009974
  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_001042351.1. CDS: coding sequence