Table 2. Identified pathogenic variants in LDLR and PCSK9 .

Variant names		Predicted effect at the protein level				Number Patients/ Families	Reference
DNA level	Protein level	M-CAP	PolyPhen-2	SIFT	Mutation Taster
LDLR nonsense variant
c.2431A＞ T	p.Lys811＊	n/a	n/a	n/a	Disease causing	3/2	(21)
LDLR missense variant
c.682G＞ A	p.Glu228Lys	0.853	1.000	0.001	Disease causing	1/1	(22)
c.1067A＞ T	p.Asp356Val	0.891	0.994	0.000	Disease causing	1/1	Novel (27)
c.1339T＞ C	p.Ser447Pro	0.740	0.848	0.012	Disease causing	2/1	(23)
c.1702C＞ G	p. Leu568Val	0.751	0.993	0.001	Disease causing	5/5	(24)
LDLR splice-site variant
c.313+1G＞ T	-	n/a	n/a	n/a	n/a	1/1	(25)
c.1845+2T＞ C	-	n/a	n/a	n/a	n/a	1/1	(21)
LDLR frameshift variant
c.1245_1249dupCCGGA	p.Ser417Thrfs＊12	n/a	n/a	n/a	Disease causing	1/1	(26)
PCSK9 missense variant
c.94G＞ A	p.Glu32Lys	0.043	0.063	0.053	Polymorphism	1/1	(20)

n/a: not available. LDLR, low-density lipoprotein receptor; PCSK9, proprotein convertase subtilisin/kexin type 9.

The pathogenicity thresholds for each pathogenicity prediction software are as follows: M-CAP ＞ 0.025, PolyPhen-2 ＞ 0.8, and SIFT ＜0.05.