Table 3. Summary of damaging variants and the affected gene.

Item	Number (%)
Total unique variants	26 (100)
Known	19 (73.1)
Novel	7 (26.9)
Nonsynonyous SNV	22 (84.6)
Frameshift deletion	3 (11.5)
Frameshift substitution	1 (3.8)
Heterozygote	24 (92.3)
Homozygote	2 (7.7)
Gene affected	23