Table 2.
Any X of Four Individuals | 1 | 2 | 3 | 4 |
---|---|---|---|---|
Genes containing missense, nonsense, in/del, or splice-site variants | 2,523 | 196 | 18 | 2 |
Allele frequency of ≤1% in dbSNP131, 1000 Genomes, and 120 local exomes | 1,474 | 161 | 8b | 1 (MUC4)c |
With a dominant model of disease.
Including EFTUD2.
Private MUC4 variants are a frequent finding at our center; therefore, this gene was deliberately excluded from further analysis.