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

Table 2 Novel potential pathogenic variants identified in the study

Gene	Exon	DNA change	Protein change	Function	Number	Prediction			ACMG classification
Gene	Exon	DNA change	Protein change	Function	Number	PolyPhen	SIFT	Mutation Taster	ACMG classification
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

NA not applicable, LDLR low-density lipoprotein receptor, APOB apolipoprotein B

ISSN: 1476-511X