Table 1

Summary of the results of gene panel targeted sequencing in 1179 individuals

Variants (n)Individuals (n)*Percentage†
Individuals without potential disease causing variant052444.44
Individuals with potential disease causing variants identified59265555.56
 Individuals with single contributing variant29748040.71
 Individuals with two or multiple contributing variants29517514.84
Number of variants identified
 Pathogenic and likely pathogenic variants21332.80
 Variants of unknown significance57063453.77
 Benign or likely benign variants110.08
Type of variant
 Frameshift deletion8151.27
 Frameshift insertion550.42
 Non-frameshift deletion10100.85
 Non-frameshift insertion6121.02
 Non-synonymous SNV54660751.48%
 Stopgain SNV18302.54%
  • *The statistics in this table was based on 1179 individuals.

  • †The percentage was calculated by the number of individuals in each category.