Table 1 Allele frequency of different G6PD mutations in 1553 neonates.
Allele | rs_ID or HGMD_ID | Male hemizygotes | Female | Sum of alleles | Percentage (%) | ||
|---|---|---|---|---|---|---|---|
homozygotes | heterozygotes | Compound heterozygotes | |||||
c.1388 G > A (p.R463H) | rs72554664 | 445 | 13 | 66 | 62 | 599 | 35.4 |
c.1376 G > T (p.R459L) | rs72554665 | 328 | 18 | 52 | 49 | 465 | 27.5 |
c.95 A > G (p.H32R) | rs137852340 | 258 | 5 | 42 | 49 | 359 | 21.2 |
c.871 G > A (p.V291M) | rs137852327 | 78 | 0 | 13 | 13 | 104 | 6.1 |
c.1024 C > T (p.L342F) | rs137852342 | 64 | 2 | 10 | 17 | 95 | 5.6 |
c.392 G > T (p.G131V) | rs137852341 | 27 | 0 | 9 | 4 | 40 | 2.4 |
c.1004 C > A (p.A335D) | CM950506 | 7 | 0 | 1 | 6 | 14 | 0.8 |
c.196 T > A (p.F66I) | CM052878 | 4 | 1 | 0 | 0 | 6 | 0.4 |
c.1360 C > T (p.R454C) | rs398123546 | 3 | 0 | 0 | 0 | 3 | 0.2 |
c.835 A > T (p.T279S) | CM014189 | 2 | 0 | 0 | 0 | 2 | 0.1 |
C.592 C > T (p.R198C) | rs137852330 | 2 | 0 | 0 | 0 | 2 | 0.1 |
c.99 A > G (p.I33M) | CM950495 | 1 | 0 | 0 | 0 | 1 | 0.1 |
c.178 C > G (p.L60V) | NA | 1 | 0 | 0 | 0 | 1 | 0.1 |
c.517 T > C (p.F173L) | rs137852343 | 1 | 0 | 0 | 0 | 1 | 0.1 |
Total | 1221 | 39 | 193 | 200 | 1692 | 100 | |
