Table 3.
The predicted occurrence of compound heterozygotes of known pathogenic variants.
| Gene | Popn | Unique Genotypes | Summed Frequency1 | Afflicted Worldwide | Afflicted USA |
|---|---|---|---|---|---|
| PDSS2 | Eur | 3 | 4.23E-09 | 2 | 0 |
| All | 3 | 5.28E-10 | 2 | 0 | |
| COQ2 | Afr | 1 | 2.51E-09 | 2 | 0 |
| EAs | 1 | 4.88E-09 | 7 | 0 | |
| Eur | 21 | 3.81E-08 | 21 | 3 | |
| Lat | 1 | 4.40E-09 | 2 | 0 | |
| All | 22 | 6.24E-09 | 32 | 3 | |
| COQ4 | Eur | 3 | 6.64E-09 | 3 | 0 |
| Lat | 1 | 6.14E-09 | 3 | 0 | |
| Oth | 1 | 1.41E-07 | — | — | |
| All | 3 | 1.92E-08 | 6 | 0 | |
| COQ6 | Afr | 1 | 2.60E-08 | 30 | 1 |
| EAs | 1 | 5.62E-09 | 9 | 0 | |
| All | 1 | 3.95E-09 | 39 | 1 | |
| COQ8A | Afr | 3 | 7.19E-09 | 8 | 0 |
| Ash | 6 | 1.38E-06 | 11 | 6 | |
| EAs | 1 | 3.38E-08 | 54 | 0 | |
| Eur | 210 | 6.20E-07 | 357 | 60 | |
| Fin | 3 | 7.02E-07 | 3 | 0 | |
| Lat | 21 | 9.03E-08 | 47 | 0 | |
| SAs | 10 | 3.06E-08 | 48 | 0 | |
| Oth | 21 | 8.58E-07 | — | — | |
| All | 216 | 4.65E-07 | 528 | 66 | |
| COQ8B | Eur | 15 | 7.87E-09 | 2 | 0 |
| SAs | 1 | 2.21E-08 | 40 | 0 | |
| All | 15 | 3.75E-09 | 42 | 0 | |
| Totals: | 259 | 4.99E-07 | 649 | 70 | |
See Table S3 for full variant-by-variant breakdown with confidence intervals.
1Subtotals (“All”) represent the average across all 8 populations, and the Total is the sum of those subtotals.