Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Table 3

Potential deleterious nonsynonymous variants investigated through WES screening in affected individual (IV-3) from a Kashmiri family having clinical manifestations of BBS.

						Average allele frequency across global populations; (Allele frequency in South Asians only)			Pathogenicity predictions
	Gene	Ref	Alt	Amino acid substitution	Chr: position (Hg19)	1000 Genomes	gnomAD	ExAC	SIFT	PolyPhen2	OMIM disease
Missense	BBS2	T	A	N148I	Chr16:56545099	NA	NA	NA	Damaging	Benign	Bardet-Biedl syndrome
	PKD2L1	A	T	I520N	Chr10:102054392	NA	0.000007953 (0.00006533)	0.00001647 (0.00006056)	Damaging	Probably damaging	NA
	AOC2	C	T	R279W	Chr17:40997478	NA	0.0002333 (0.0001960)	0.0002 (0.0001)	Damaging	Possibly damaging	NA