Table 2. LDLR mutations identified in the study.

Number	Detected by Array	Detected by exon sequencing	Exon	cDNA	Protein
1	Yes	Yes	10	c. 1439 C > T	p. Ala480Val
	No	Yes	12	c. 1729 T > G	p. Trp577Gly
2	Yes	Yes	13	c. 1864 G > T	p. Asp622Tyr
3	Yes	ND	13	c. 1879 G > A	p. Ala627Thr
4	Yes	Yes	4	c. 611 G > A	p. Cys204Tyr
	No	Yes	4	c. 673delA	p. Lys225Asnfs*40
5	Yes	ND	4	c. 691 T > C	p. Cys231Arg
6	Yes	ND	14	c. 2054 C > T	p. Pro685Leu
7	Yes	Yes	10	c. 1448 G > A	p. Trp483X
	No	Yes	10	c. 1363delC	p. Gln455Serfs*52
8	Yes	Yes	4	c. 517 T > C	p. Cys173Arg
	Yes	Yes	12	c. 1757 C > A	p. Ser586X
9	Yes	Yes	4	c. 428 G > A	p. Cys143Tyr
	Yes	Yes	12	c. 1744 C > T	p. Leu582Phe
10	Yes	ND	10	c. 1448 G > A	p. Trp483X
	Yes	ND	13	c. 1879 G > A	p. Ala627Thr
11	No	ND	Intron 8	c. 1187-10 G > A
12	Yes	ND	Intron 7	c. 1060 + 10 G > C
13	ND	Yes	8	c. 1129 T > G	p. Cys377Gly
	ND	Yes	9	c. 1268 T > C	p. Ile423Thr
14	ND	Yes	Intron 5	c. 818-2 A > G
	ND	Yes	10	c. 1448 G > A	p. Trp483X
15	ND	Yes	10	c. 1448 G > A	p. Trp483X
	ND	Yes	17	c. 2475 C > G	p. Asn825Lys
16	ND	Yes	10	c. 1448 G > A	p. Trp483X
	ND	Yes	9	c. 1216 C > A	p. Arg406Arg
17	ND	Yes	4	c. 514 G > C	p. Asp172His
	ND	Yes	12	c. 1723 C > T	p. Leu575Phe
18	ND	Yes	9	c. 1246 C > T	p. Arg416Trp
	ND	Yes	12	c. 1747 C > T	p. His583Tyr
19	ND	Yes	10	c. 1448 G > A	p. Trp483X
	ND	Yes	14	c. 2132 G > A	p. Cys711Tyr
20	ND	Yes	4	c. 665 G > T	p. Cys222Phe
	ND	Yes	14	c. 2054 C > T	p. Pro685Leu