Table 3.

Autosomal dominant disorders with the highest allele frequencies in the cohort.

Dominant genetic disorder	Gene	Allele freq.
DFNA2 nonsyndromic hearing loss	KCNQ4	1.24%
Hereditary pancreatitis	SPINK1, PRSS1	1.05%
Familial hypercholesterolemia	APOB, LDLR	0.89%
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 (CADASIL)	NOTCH3	0.88%
Familial hypertrophic cardiomyopathy	TCAP	0.45%
Spastic paraplegia 4	SPAST	0.29%
Maturity-onset diabetes of the young type 3	HNF1A	0.17%