Table 1.

In silico analysis of c.2035G>A (p.E679K) mutation in BBS10 gene

Gene	Exon	Nucleotide change	Protein effect	Type of mutation	MAF a			SIFT	Mutation taster	Polyphen-2	CADD	GERP++	ACMG classification
					GnomAD	Exac	1000G
BBS10
RefSeq OMIM# 610148 NM_024685.4	2	c.2035G>A	p.E679K	Mis-sense	N/A b	N/A	N/A	Damaging	Disease causing	Probably damaging	29.6	4.91	Likely pathogenic

MAF: Minor allele frequency;

N/A: Not available