Table 4.
Predicted prevalence of homozygous and compound heterozygous afflicted individuals for all known and predicted pathogenic variants.
| Gene | Popn | Homozygous | Compound Heterozygous | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Unique Genotypes | Summed Frequency1 | Afflicted Worldwide | Afflicted USA | Unique Genotypes | Summed Frequency1 | Afflicted Worldwide | Afflicted USA | ||
| PDSS1 | Afr | 10 | 6.68E-08 | 77 | <1 | 45 | 2.69E-07 | 297 | <1 |
| Ash | 2 | 2.06E-08 | <1 | <1 | 1 | 1.03E-08 | <1 | <1 | |
| EAs | 8 | 7.81E-07 | 1,256 | 4 | 28 | 8.60E-07 | 1,372 | 2 | |
| Eur | 33 | 2.46E-08 | 12 | 2 | 528 | 1.70E-07 | 27 | 1 | |
| Fin | 3 | 2.21E-08 | <1 | <1 | 3 | 1.41E-08 | <1 | <1 | |
| Lat | 11 | 1.53E-06 | 963 | 84 | 55 | 1.06E-06 | 643 | 50 | |
| SAs | 7 | 4.44E-08 | 76 | <1 | 21 | 8.13E-08 | 132 | <1 | |
| Oth | 3 | 9.98E-08 | — | - | 3 | 9.98E-08 | — | — | |
| All | 62 | 3.23E-07 | 2,384 | 90 | 674 | 3.21E-07 | 2,471 | 53 | |
| PDSS2 | Afr | 12 | 5.14E-07 | 607 | 18 | 66 | 9.00E-07 | 1,038 | 17 |
| Ash | 1 | 2.03E-06 | 20 | 10 | 0 | — | — | — | |
| EAs | 13 | 5.03E-06 | 8,100 | 29 | 78 | 2.22E-06 | 3,532 | 3 | |
| Eur | 37 | 2.14E-08 | 9 | 1 | 666 | 2.15E-07 | 27 | <1 | |
| Lat | 6 | 7.94E-09 | 2 | <1 | 15 | 1.76E-08 | 5 | <1 | |
| SAs | 12 | 1.74E-07 | 309 | <1 | 66 | 4.20E-07 | 721 | <1 | |
| Oth | 5 | 2.47E-07 | — | — | 10 | 4.16E-07 | — | — | |
| All | 68 | 1.00E-06 | 9,047 | 58 | 879 | 5.23E-07 | 5,323 | 20 | |
| COQ2 | Afr | 10 | 1.55E-07 | 180 | 2 | 45 | 5.53E-07 | 628 | 6 |
| Ash | 1 | 1.70E-06 | 17 | 8 | 0 | — | — | — | |
| EAs | 5 | 4.01E-07 | 644 | 2 | 10 | 1.99E-07 | 315 | <1 | |
| Eur | 31 | 7.51E-08 | 48 | 11 | 465 | 2.99E-07 | 106 | 12 | |
| Fin | 2 | 2.24E-08 | <1 | <1 | 1 | 8.18E-09 | <1 | <1 | |
| Lat | 7 | 4.53E-08 | 26 | 1 | 21 | 9.31E-08 | 47 | <1 | |
| SAs | 10 | 1.86E-08 | 29 | 0 | 45 | 7.24E-08 | 119 | <1 | |
| Oth | 3 | 1.10E-06 | — | — | 3 | 3.80E-07 | — | — | |
| All | 53 | 4.40E-07 | 944 | 24 | 573 | 2.00E-07 | 1,215 | 18 | |
| COQ3 | Afr | 2 | 4.51E-08 | 53 | 1 | 1 | 8.67E-09 | 10 | <1 |
| EAs | 3 | 2.10E-08 | 33 | <<1 | 3 | 1.72E-08 | 27 | <1 | |
| Eur | 16 | 7.30E-09 | 3 | <1 | 120 | 2.62E-08 | 1 | <1 | |
| Lat | 1 | 3.55E-09 | 2 | <1 | 0 | — | — | — | |
| SAs | 4 | 4.75E-09 | 6 | <1 | 6 | 7.09E-09 | 11 | <1 | |
| All | 23 | 1.02E-08 | 97 | 1 | 130 | 7.40E-09 | 49 | <1 | |
| COQ4 | Afr | 19 | 2.22E-07 | 257 | 2 | 171 | 1.60E-06 | 1,811 | 5 |
| Ash | 1 | 9.55E-06 | 95 | 48 | 0 | — | — | — | |
| EAs | 11 | 2.61E-06 | 4,195 | 13 | 55 | 2.60E-06 | 4,169 | 7 | |
| Eur | 40 | 5.10E-08 | 29 | 4 | 780 | 4.90E-07 | 129 | 8 | |
| Fin | 5 | 1.11E-06 | 5 | <1 | 10 | 2.01E-07 | <1 | <1 | |
| Lat | 17 | 8.40E-08 | 44 | 2 | 136 | 4.04E-07 | 187 | 2 | |
| SAs | 17 | 3.19E-08 | 45 | <1 | 136 | 2.30E-07 | 334 | <1 | |
| Oth | 9 | 1.87E-06 | — | — | 36 | 3.61E-06 | — | — | |
| All | 81 | 1.94E-06 | 4,670 | 69 | 1,236 | 1.14E-06 | 6,630 | 22 | |
| COQ5 | Afr | 4 | 1.71E-08 | 20 | <1 | 6 | 2.56E-08 | 30 | <1 |
| EAs | 5 | 5.11E-07 | 822 | 2 | 10 | 3.92E-07 | 627 | 1 | |
| Eur | 11 | 1.32E-08 | 6 | <1 | 55 | 4.02E-08 | 11 | <1 | |
| Fin | 1 | 2.01E-09 | <1 | <1 | 0 | — | — | — | |
| Lat | 2 | 1.77E-09 | <1 | <1 | 1 | 8.87E-10 | <1 | <1 | |
| SAs | 1 | 1.06E-09 | 1 | <1 | 0 | — | — | — | |
| All | 23 | 6.83E-08 | 849 | 2 | 72 | 5.74E-08 | 668 | 1 | |
| COQ6 | Afr | 20 | 2.32E-07 | 270 | 2 | 190 | 1.79E-06 | 2,045 | 6 |
| Ash | 3 | 3.09E-08 | <1 | <1 | 3 | 3.09E-08 | <1 | <1 | |
| EAs | 18 | 1.75E-07 | 274 | <1 | 153 | 1.08E-06 | 1,642 | <1 | |
| Eur | 58 | 1.26E-07 | 80 | 17 | 1,653 | 1.06E-06 | 385 | 48 | |
| Fin | 4 | 7.03E-09 | <1 | <1 | 6 | 1.05E-08 | <1 | <1 | |
| Lat | 18 | 1.53E-06 | 962 | 83 | 153 | 1.66E-06 | 984 | 67 | |
| SAs | 21 | 3.06E-07 | 540 | <1 | 210 | 6.91E-07 | 1,076 | <1 | |
| Oth | 9 | 1.52E-06 | — | — | 36 | 3.40E-06 | — | — | |
| All | 110 | 4.91E-07 | 2,126 | 102 | 2,284 | 1.22E-06 | 6,132 | 121 | |
| COQ7 | Afr | 2 | 1.38E-08 | 16 | <1 | 1 | 6.92E-09 | 8 | <1 |
| EAs | 2 | 6.96E-09 | 10 | <1 | 1 | 3.48E-09 | 5 | <1 | |
| Eur | 10 | 8.85E-09 | 5 | <1 | 45 | 1.90E-08 | 3 | <1 | |
| Fin | 2 | 4.46E-07 | 2 | <1 | 1 | 5.14E-08 | <1 | <1 | |
| Lat | 1 | 8.87E-10 | <1 | <1 | 0 | — | — | — | |
| SAs | 5 | 3.84E-08 | 66 | <1 | 10 | 4.99E-08 | 85 | <1 | |
| Oth | 2 | 5.72E-08 | — | — | 1 | 2.82E-08 | — | — | |
| All | 18 | 7.15E-08 | 99 | <1 | 58 | 1.99E-08 | 101 | <1 | |
| ADCK3 | Afr | 23 | 3.16E-07 | 369 | 7 | 253 | 2.39E-06 | 2,736 | 19 |
| Ash | 4 | 7.08E-06 | 69 | 35 | 6 | 1.38E-06 | 11 | 6 | |
| EAs | 17 | 2.47E-06 | 3,970 | 12 | 136 | 6.50E-06 | 10,392 | 15 | |
| Eur | 97 | 1.99E-07 | 120 | 23 | 4,656 | 3.81E-06 | 1,437 | 154 | |
| Fin | 12 | 1.77E-06 | 7 | <1 | 66 | 3.95E-06 | 11 | <1 | |
| Lat | 26 | 8.76E-07 | 541 | 45 | 325 | 2.41E-06 | 1,361 | 72 | |
| SAs | 34 | 1.23E-06 | 2,209 | 3 | 561 | 2.47E-06 | 4,088 | <1 | |
| Oth | 14 | 6.57E-07 | — | — | 91 | 3.82E-06 | — | — | |
| All | 149 | 1.82E-06 | 7,285 | 125 | 5,635 | 3.34E-06 | 20,036 | 266 | |
| ADCK4 | Afr | 34 | 8.77E-07 | 1,031 | 26 | 561 | 6.97E-06 | 8,043 | 109 |
| Ash | 6 | 3.37E-06 | 32 | 16 | 15 | 1.74E-06 | 11 | 3 | |
| EAs | 24 | 3.70E-06 | 5,945 | 18 | 276 | 1.63E-05 | 26,171 | 44 | |
| Eur | 83 | 1.34E-07 | 79 | 14 | 3,403 | 2.20E-06 | 725 | 74 | |
| Fin | 11 | 1.54E-07 | <1 | <1 | 55 | 4.68E-07 | <1 | <1 | |
| Lat | 30 | 5.79E-07 | 352 | 27 | 435 | 2.43E-06 | 1,349 | 67 | |
| SAs | 17 | 1.51E-07 | 262 | <1 | 136 | 4.54E-07 | 727 | <1 | |
| Oth | 6 | 2.38E-07 | — | — | 15 | 5.40E-07 | — | — | |
| All | 135 | 1.15E-06 | 7,701 | 101 | 4,449 | 3.89E-06 | 37,026 | 297 | |
| COQ9 | Afr | 9 | 8.83E-07 | 1,045 | 33 | 36 | 1.19E-06 | 1,401 | 38 |
| EAs | 10 | 1.71E-06 | 2,751 | 9 | 45 | 1.98E-06 | 3,171 | 4 | |
| Eur | 34 | 1.82E-08 | 7 | 1 | 561 | 1.59E-07 | 18 | <1 | |
| Fin | 5 | 1.62E-07 | <1 | <1 | 10 | 1.74E-07 | <1 | <1 | |
| Lat | 15 | 1.06E-07 | 59 | 3 | 105 | 4.28E-07 | 221 | 4 | |
| SAs | 11 | 4.34E-08 | 70 | <1 | 55 | 1.31E-07 | 193 | <1 | |
| Oth | 3 | 1.55E-07 | — | — | 3 | 1.34E-07 | — | — | |
| All | 60 | 3.85E-07 | 3,932 | 46 | 768 | 5.25E-07 | 5,004 | 46 | |
| Totals: | 782 | 7.70E-06 | 39,134 | 618 | 16,758 | 1.12E-05 | 84,655 | 844 | |
See Tables S4 and S5 for full variant-by-variant breakdowns with confidence intervals.
1Frequencies for each population are the sum of all homozygous or compound heterozygote frequencies for each variant in that population; Subtotals for all populations are the average of the 8 populations considered, and Total is the sum of those subtotals.