|
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
| |
–
|
- 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
