BLM and hypercholesterolemia, familial, 1: Other six novel variants were detected in patients with no FHC, c.1135G > A/p.Ala379Thr in NSD1 gene, c.2777A > G/p.Glu926Gly in RB1 gene, c.2693G > A/p.Arg898Lys in the BLM gene, c.1031A > C/p.Gln344Pro in MSH2 gene, c.1493T > G p.Phe498Cys in DICER1 gene and c.278G > A/p.Arg93His in PMS1 gene in a patient (Patient ID: CRC380, CRC442, CRC599, CRC600, and CRC635).