Table 1. Number of autosomal compound heterozygous (compHet), homozygous and all recessive genotypes (compHet+homozygous) observed among probands and parents in the Bulgarian sample.
| Variant (MAF) | Genotype | Probands N mut. (rate) | Parents N mut. (rate) | Puncorrected | Pcorrected |
|---|---|---|---|---|---|
| NS (⩽1%) | CompHet | 1485 (2.46) | 2790 (2.31) | 0.030 | 0.43 |
| Homozygous | 488 (0.81) | 1049 (0.87) | 0.76 | 1 | |
| All recessive | 1973 (3.27) | 3839 (3.18) | 0.25 | 1 | |
| LOF (⩽1%) | CompHet | 4 (0.0066) | 6 (0.0050) | 0.43 | 1 |
| Homozygous | 17 (0.028) | 28 (0.023) | 0.23 | 1 | |
| All recessive | 21 (0.035) | 34 (0.028) | 0.25 | 1 | |
| NS (⩽5%) | CompHet | 5869 (9.72) | 11 740 (9.72) | 0.50 | 1 |
| Homozygous | 3046 (5.04) | 6322 (5.23) | 0.85 | 1 | |
| All recessive | 8915 (14.76) | 18 062 (14.95) | 0.78 | 1 | |
| LOF (⩽5%) | CompHet | 7 (0.012) | 8 (0.0066) | 0.09 | 1 |
| Homozygous | 52 (0.086) | 84 (0.070) | 0.12 | 1 | |
| All recessive | 59 (0.098) | 92 (0.076) | 0.07 | 0.84 |
Abbreviations: LOF, loss of function; MAF, minor allele frequency; mut., mutant; NS, nonsynonymous.