Table 4.

Variant burden analysis for candidate genes: DGCR6 and TBX20

Genes	Number of variants in 1 274 patient alleles	Number of variants in gnomad alleles	p-value
DGCR6	2	146 in 30 906	0.102
TBX20	7	70 in 30 944	0.033

Variant burden analyses were performed comparing frequencies of the variants fulfilling the two criteria that were mentioned in ‘Section Replication of candidate BAV/TAA genes’ between BAV/TAA patients and controls in gnomAD database (only genome data). Chi-square test was executed with either Pearson chi-square test (two-sided) or Fisher’s exact test (two-sided) (Statistical Package for the Social Sciences (SPSS) Software). Statistical significance was considered when p < 0.05. Statistically significant p-values are represented in bold.