Table 1.
Summary of variants detected through WES.
| Proband (II:2) | Mother (I:2) | |
|---|---|---|
| Total number of variants obtained | 70,312 | 73,290 |
| Exonic nonsynonymous variants | 9,901 | 9,964 |
| Exonic nonsynonymous variants (MAF <0.01) | 1,154 | 1,182 |
| Nonsynonymous SNP | 664 | 648 |
| In-frame coding indel | 224 | 269 |
| Frame shift | 73 | 45 |
| Nonsense | 24 | 11 |
| Read through | 1 | 1 |
| #BBS causing variants | 2 | 1 |
#Analysis was performed with preference given to those variants that were located in the 19 genes causing BBS.
WES: whole exome sequencing; MAF: minor allele frequency; SNP: single-nucleotide polymorphism; BBS: Bardet-Biedl syndrome.