Gene	Mutation	Designation	Region affected	Frequency (n, %)	Polyphen-2	SIFT	ACMG	dbSNP	Methodology＊
LDLR	NM_000527.4: c.68-2 A＞C	IVS2-2 A＞C	Intron 01	2 (0.4%)	-	-	Likely Pathogenic	-	1
LDLR	NM_000527.4: c.190 ＋4 A＞T	IVS2＋4 A＞T	Intron 02	2 (0.4%)	-	-	Pathogenic	rs769446356	2
LDLR	NM_000527.4: c.338 del [AGTTTC] ins T	E113Fs	Exon 04	2 (0.4%)	-	-	Pathogenic	-	1
LDLR	NM_000527.4: c.940 ＋1 G＞R	IVS6＋1 G＞A	Intron 06	2 (0.4%)	-	-	Pathogenic	rs879254729	1
LDLR	NM_000527.4: c.1216 C＞T	R406W	Exon 09	2 (0.4%)	Probably damaging (score: 1.000)	Tolerated (score= 1)	Pathogenic	-	1
LDLR	NM_000527.4: c.1291 G＞A＋ c.1867 A＞G	A431T＋I623V	Exon 09＋13	2 (0.4%)	Probably damaging (score: 1.000)＋ Benign (score: 0.000)	Damaging (score: 0.001) ＋ Tolerated (score= 0.902)	Pathogenic ＋ Likely Pathogenic	rs28942079 / rs555292896	1	Novel
LDLR	NM_000527.4: c.1420 C＞Y	Q474X	Exon 10	2 (0.4%)	-	-	Pathogenic	rs201967266	1
LDLR	NM_000527.4: c.1592 T＞A	M531K	Exon 11	2 (0.4%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Likely Pathogenic	＊--	1
LDLR	NM_000527.4: c.1609 G＞T	G537X	Exon 11	2 (0.4%)	-	-	Pathogenic	rs879254958	1
LDLR	NM_000527.4: c.1618 G＞A	A540T	Exon 11	2 (0.4%)	Probably damaging (score: 1.000)	Damaging (score: 0.002)	Pathogenic	-	1
LDLR	NM_000527.4: c.1807 A＞T	K603X	Exon 12	2 (0.4%)	-	-	Pathogenic	rs879255029	1
APOB	NM_000384.2: c.10580 G＞A	R3527Q	Exon 26	2 (0.4%)	Probably damaging (score: 1.000)	Damaging (score: 0.039)	Likely Pathogenic	rs5742904	2
LDLR	NM_000527.4: c.64 del [G]	A22Fs	Exon 01	1 (0.2%)	-	-	Pathogenic	rs879254393	1
LDLR	NM_000527.4: c.101 G＞C	C34S	Exon 02	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Likely Pathogenic	rs879254406	1
LDLR	NM_000527.4: c.253 C＞T	Q85X	Exon 03	1 (0.2%)	-	-	Pathogenic	rs875989893	2
LDLR	NM_000527.4: c.310 T＞C	C104R	Exon 03	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	rs879254464	1
LDLR	NM_000527.4: c.313 ＋1 G＞A	IVS3＋1 G＞A	Intron 03	1 (0.2%)	-	-	Pathogenic	rs112029328	1
LDLR	NM_000527.4: c.344 G＞A	R115H	Exon 04	1 (0.2%)	Probably damaging (score: 1.000)	Tolerated (score= 0.069)	Likely Pathogenic	rs201102461	1
LDLR	NM_000527.4: c.536 A＞C	E179A	Exon 04	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	-	1
LDLR	NM_000527.4: c.562 del[T]	Y188Fs	Exon 04	1 (0.2%)	-	-	Pathogenic	-	1
LDLR	NM_000527.4: c.590 G＞A	C197Y	Exon 04	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	rs376459828	1
LDLR	NM_000527.4: c.626 G＞A	C209Y	Exon 04	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	rs879254600	1
LDLR	NM_000527.4: c.664 T＞C	C222R	Exon 04	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	rs577934998	2
LDLR	NM_000527.4: c.681 C＞A	D227E	Exon 04	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0.001)	Pathogenic	rs121908028	1
LDLR	NM_000527.4: c.682 G＞T	E228X	Exon 04	1 (0.2%)	-	-	Pathogenic	rs121908029	1
LDLR	NM_000527.4: c.799 G＞T	E267X	Exon 05	1 (0.2%)	-	-	Pathogenic	-	1
LDLR	NM_000527.4: c.811 G＞A	V271I	Exon 05	1 (0.2%)	Benign (score: 0.000)	Tolerated (score= 0.253)	Likely Benign	rs749220643	2