Gene	Mutation	Designation	Region affected	Frequency (n, %)	Polyphen-2	SIFT	ACMG	dbSNP	Methodology＊
LDLR	NM_000527.4: c.817 ＋1 G＞A	IVS5＋1 G＞A	Intron 05	1 (0.2%)	-	-	Pathogenic	rs879254685	1
LDLR	NM_000527.4: c.828 C＞A	C276X	Exon 06	1 (0.2%)	-	-	Likely Pathogenic	rs146651743	1
LDLR	NM_000527.4: c.947 A＞G	N316S	Exon 07	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0.002)	Pathogenic	rs730882094	1
LDLR	NM_000527.4: c.1048 C＞T	R350X	Exon 07	1 (0.2%)	-	-	Pathogenic	-	1
LDLR	NM_000527.4: c.1054 T＞A	C352S	Exon 07	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	rs879254769	1
LDLR	NM_000527.4: c.1057 G＞A	E353K	Exon 07	1 (0.2%)	Benign (score: 0.437)	Tolerated (score= 0.187)	Likely Pathogenic	rs370471092	1
LDLR	NM_000527.4: c.1060＋2 T＞C	IVS7＋2 T＞C	Intron 07	1 (0.2%)	-	-	Pathogenic	rs774069731	2	Novel
LDLR	NM_000527.4: c.1139 A＞C	E380A	Exon 08	1 (0.2%)	Benign (score: 0.009)	Tolerated (score= 0.411)	Likely Pathogenic	-	2	Novel
LDLR	NM_000527.4: c.1187-10 G＞A	IVS8-10 G＞A	Intron 08	1 (0.2%)	-	-	Likely Pathogenic	rs765696008	2
LDLR	NM_000527.4: c.1195 G＞A	A399T	Exon 09	1 (0.2%)	Probably damaging (score: 0.993)	Damaging (score: 0.006)	Pathogenic	rs730882099	1
LDLR	NM_000527.4: c.1222 G＞A	E408K	Exon 09	1 (0.2%)	Probably damaging (score: 0.995)	Damaging (score: 0.004)	Pathogenic	rs137943601	2
LDLR	NM_000527.4: c.1247 G＞T	R416L	Exon 09	1 (0.2%)	Benign (score: 0.144)	Damaging (score: 0)	Pathogenic	-	1
LDLR	NM_000527.4: c.1285 G＞T	V429L	Exon 09	1 (0.2%)	Benign (score: 0.307)	Damaging (score: 0.016)	Pathogenic	rs28942078	2
LDLR	NM_000527.4: c.1384 G＞A	V462I	Exon 10	1 (0.2%)	Benign (score: 0.005)	Tolerated (score= 0.434)	Uncertain Significance	rs750363970	1
LDLR	NM_000527.4: c.1552 A＞G	K518E	Exon 10	1 (0.2%)	Possibly damaging (score: 0.5166)	Tolerated (score= 1)	Likely Pathogenic	rs879254937	1
LDLR	NM_000527.4: c.1597 T＞C	W533R	Exon 11	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	rs879254951	1
LDLR	NM_000527.4: c.1661 C＞T	S554L	Exon 11	1 (0.2%)	Possibly damaging (score: 0.685)	Tolerated (score= 0.167)	Uncertain Significance	rs879254976	1
LDLR	NM_000527.4: c.1693 G＞C	G565R	Exon 11	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	-	1
LDLR	NM_000527.4: c.1706-1 G＞A	IVS12-1 G＞A	Intron 11	1 (0.2%)	-	-	Pathogenic	rs879254996	2
LDLR	NM_000527.4: c.1721 G＞A	R574H	Exon 12	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Pathogenic	rs777188764	2
LDLR	NM_000527.4: c.1726 del [T]	Y576Fs	Exon 12	1 (0.2%)	-	-	Pathogenic	-	1
LDLR	NM_000527.4: c.1783 C＞T	R595W	Exon 12	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0)	Likely Pathogenic	rs373371572	1
LDLR	NM_000527.4: c.1851-1862 del [AGTATTTTGGAC]	597-600delVFWT	Exon 13	1 (0.2%)	-	-	Likely Pathogenic	-	1
LDLR	NM_000527.4: c.1988-1 G＞C	IVS14-1 G＞C	Intron 13	1 (0.2%)	-	-	Pathogenic	rs1555807335	1
LDLR	NM_000527.4: c.2096 C＞T	P699L	Exon 14	1 (0.2%)	Probably damaging (score: 1.000)	Damaging (score: 0.001)	Likely Pathogenic	rs201573863	1
LDLR	NM_000527.4: c.2099 A＞G	D700G	Exon 14	1 (0.2%)	Probably damaging (score: 0.999)	Damaging (score: 0.003)	Likely Pathogenic	rs879255139	1
LDLR	NM_000527.4: c.2140 G＞T	E714X	Exon 14	1 (0.2%)	-	-	Pathogenic	rs869320652	2
LDLR	NM_000527.4: c.2215 C＞T	Q739X	Exon 15	1 (0.2%)	-	-	Likely Pathogenic	rs370018159	1