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Table 2 Novel potential pathogenic variants identified in the study

From: Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation

Gene Exon DNA change Protein change Function Number Prediction ACMG classification
PolyPhen SIFT Mutation Taster
LDLR
 3 c.285C > G p.C95W nonsynonymous 1 probably damaging damaging disease causing PM2;PM5;PP3
 3 c.302A > T p.E101V nonsynonymous 1 probably damaging damaging disease causing PM2;PP3
 4 c.393delC p.D131fs frameshift deletion 1 NA NA NA PVS;PM2
 4 c.524A > G p.D175G nonsynonymous 1 probably damaging tolerated disease causing PM2
 5 c.728G > A p.C243Y nonsynonymous 1 probably damaging damaging disease causing PM2;PP3
 9 c.1206delC p.F402 fs frameshift deletion 1 NA NA NA PVS;PM2
 13 c.1934A > T p.N645I nonsynonymous 1 possibly damaging damaging disease causing PM2;PP3
APOB
 26 c.10093C > G p.H3365D nonsynonymous 1 probably damaging damaging polymorphism PM2
  1. NA not applicable, LDLR low-density lipoprotein receptor, APOB apolipoprotein B