ALMS1 and ciliopathy: In patient P7, in contrast, no convincing biallelic mutations were identified in any known human ciliopathy gene, although the previously detected ALMS1 p.Ser3960Phefs*12 mutation was confirmed together with a common single amino acid insertion in a minor transcript of ALMS1 (rs147096460; p.524insPro; allele frequency 0.63 in ExAC).