We also retained two known recurring alleles in ciliopathy genes which have allele frequencies >0.1% in GnomAD: BBS1 (NM_024649.4) c.1169 T > G, p.M309R [15] and KIAA0586 (NM_001244189.1) c.428delG, p.R143Kfs*4 [16, 17]. This evidence concerns the gene BBS1 and ciliopathy.