Table 7.
p.P268S (rs2066842) |
p.R702W (rs2066844) |
p.G908R (rs2066845) | IVS8 (rs5743289) | 3020insC (rs2066847) | |
---|---|---|---|---|---|
Global (gnomAD) |
18.6% | 2.6% | 0.0% | 10.2% | 1.7% |
Polish (experimental data) |
30.1% | 2.0% | 1.1% | 17.1% | 4.1% |
Ashkenasi Jews (gnomAD) | 23.9% | 2.2% | 0.4% | 16.9% | 3.4% |
Estonian (dbSNP) |
20.7% | 1.9% | 0.7% | 12.1% | 3.8% |
Northern Sweden (dbSNP) |
24.0% | 1.2% | 0.6% | 17.0% | 1.7% |
East Asian (gnomAD) |
0.5% | 0.0% | 0.0% | 0.0% | 0.0% |
African (gnomAD) |
5.0% | 0.7% | 0.0% | 2.9% | 0.3% |
American (gnomAD) |
16.0% | 0.3% | 1.0% | 10.0% | 1.0% |