Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome

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.