Gene	Mutation	Designation	Region affected	Frequency (n, %)	Polyphen-2	SIFT	ACMG	dbSNP	Methodology＊
LDLR	NM_000527.4: c.2446 A＞T	K816X	Exon 17	1 (0.2%)	-	-	Pathogenic	rs879255213	1
LDLR	NM_000527.4: c.817-?_?del	Exon 6-18 del	-	1 (0.2%)	-	-	Pathogenic	-	3
LDLR	NM_000527.4: c.941-?_1186＋?del	Exon 7-8 del	-	1 (0.2%)	-	-	Pathogenic	-	3
LDLR	NM_000527.4: c.1187-?_2140＋?del	Exon 9-14 del	-	1 (0.2%)	-	-	Pathogenic	-	3
LDLR	NM_000527.4: c.1- ?_940＋?dup	Exon 1-6 dup	-	1 (0.2%)	-	-	Pathogenic	-	3
LDLR	NM_000527.4: c.68- ?_940＋?dup	Exon 2-6 dup	-	1 (0.2%)	-	-	Pathogenic	-	3
ABCG5	NM_022436.2: c.1166 G＞A	R389H	Exon 09	1 (0.2%)	Probably damaging (score: 1.000)	Tolerated (score: 0.095)	Likely Pathogenic	rs119480069	2
ABCG5	NM_022436.2: ABCG5 c.1336 C＞T	R446X	Exon 10	1 (0.2%)	-	-	Pathogenic	rs199689137	2
ABCG5	NM_022436.2: ABCG5 c.1337 G＞A	R446Q	Exon 10	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0.000)	Uncertain Significance	-	2	Novel

^＊Methodology used for genetic detection: 1: mass spectrometry, 2: next generation sequencing, 3: MLPA