Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients

Table 1

List of genetic variants.

Gene	Chromosome	Nucleotide change	Amino acid change	Count	Variant type	In silico			ACMG criteria	Variant class
						PolyPhen-2	SIFT score	CADD score
LDLR	19	c.1221_1222delCGinsT	p.Glu408ArgFs5	1	Nonsense	NA	NA	NA	PVS1 + PM2	PM
APOB	2	c.10591A>G	p.Lys3531Glu	1	Missense	0.574	0	19.36	PM1 + PM2 + PM6	VUS

CADD score, combined annotation-dependent depletion score; ACMG criteria, American college of medical genetics criteria; PM, pathogenic mutation; VUS, variant of uncertain significance.