In another whole‐genome sequencing (WGS) study on a large family clinically diagnosed with familial hypercholesterolemia, in whom no mutations were detected in the coding regions of LDLR, APOB and PCSK9, a novel LDLR deep intronic variant (viz, c.2140+103G>T) co‐segregated with LDL‐C and the familial hypercholesterolemia phenotype.50 The gene discussed is APOB; the disease is familial hypercholesterolemia.