Table 1 High-impact variants identified in the G6PD gene

† 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