LDLR

Homozygous familial hypercholesterolemia

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Introduction

The LDLR gene, which stands for low density lipoprotein receptor, is located on chromosome 19p13.2. It has 18 exons spanning 44.4 kb and encodes an 860 amino acid protein (1, 2). The LDLR gene family is made of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. LDLR protein is typically located at the cell membrane where it binds cholesterol and is taken into the cell. Cholesterol is released by the lysosomes and made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis (3), LDLR gene variants account for 85-90% of HoFH genotypes (4).

Highly expressed in liver, adrenal, lung, and other tissues, a deficiency in this gene product leads to elevated levels of LDL in the plasma which can cause premature atherosclerotic cardiovascular disease (3).

Variant List

To see more information, click on the variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and Laboratory Variant Classification, please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Gene Symbol	Times Observed	Variant Type	Effect Type	Display Variant Classification	PMID	Location	Phenotype	Present in ClinVar

LDLR_0001	Ambiguous	p.?	LDLR	12			Pathogenic	19538517
LDLR_0018	c.?	p.Trp4*	LDLR	14		Nonsense	Pathogenic	12442279, 12837857, 16627557, Show More >>	Exon 1	Xanthomas, angina, Xanthomas, coronary artery disease	Unknown
LDLR_0017	c.?	p.Val806fs	LDLR	1		Frameshift	Pathogenic	28994502	Exon 17		Unknown
LDLR_0016	c.?	p.Asn825Lys	LDLR	52		Missense	Pathogenic	10421221, 11810272, 15576851, Show More >>	Exon 17	Corneal arcus, xanthomas	Unknown
LDLR_0015	c.314-?_940+?del	Deletion (Exons 4-6)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	37119068	Exons 4-6		Unknown
LDLR_0014	c.2390-?_2583+?del	Deletion (Exons 17-18)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	37119068	Exons 17-18		Unknown
LDLR_0013	c.191-?_1845+?dup	Gain (Exons 3-12)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	37119068	Exons 3-12		Unknown
LDLR_0012	c.?	p.?	LDLR	4	Copy Number Loss	Deletion	Pathogenic	16627557, 19026292, 19538517	Unknown		Unknown
LDLR_0011	c.?	p.Trp6Phe>207X	LDLR	1		Frameshift	Pathogenic	37305647	Exon 1		Unknown
LDLR_0021	c.?	p.Gln33fs	LDLR	1		Frameshift	Pathogenic	1301956	Exon 2		Unknown
LDLR_0010	c.?	p.Ala771Glufs*9	LDLR	1		Frameshift	Pathogenic	33418990	Exon 15		Unknown
LDLR_0009	c.?	p.Val797Leu	LDLR	3		Missense	Likely Pathogenic	11810272, 31491741, 37857437	Exons 16-17	Xanthomas, coronary artery disease	Unknown
LDLR_0008	c.?	p.Asp227Glu	LDLR	939		Missense	Pathogenic	10146335, 10669652, 10856535, Show More >>	Exon 4	Corneal arcus, xanthelasmas, xanthomas, cardiovascular disease, cardiac rhythm d Show More >>	Unknown
LDLR_0007	c.?	p.Arg410Ser	LDLR	4		Missense	Pathogenic	27998977, 32906018	Exon 9	Xanthelasmas	Unknown
LDLR_0006	c.?	p.Gly545Arg	LDLR	2		Missense	Likely Pathogenic	14512370	Exon 11		Unknown
LDLR_0005	c.?	p.Trp443Cys	LDLR	9		Missense	Likely Pathogenic	11810272, 1301956, 16466730, Show More >>	Exon 9		Unknown
LDLR_0004	c.?	p.Thr713=	LDLR	1		Silent	Likely Pathogenic	29870584	Exon 14		Unknown
LDLR_0003	c.?	p.Trp87Arg	LDLR	3		Missense	Likely Pathogenic	27919364, 29870584	Exon 3		Unknown
LDLR_0026	c.?	p.Leu511Tyrfs*37	LDLR	1			Pathogenic	31491741
LDLR_0025	c.?	p.Trp536*	LDLR	1			Pathogenic	15241806
LDLR_0027	c.?	p.Trp577*	LDLR	2		Nonsense	Pathogenic	12052488, 31491741	Exon 12		Unknown
LDLR_0023	c.?	p.Cys711Ser	LDLR	8		Missense	Likely Pathogenic	11810272, 12730724	Exon 14		Unknown
LDLR_0024	c.?	p.Cys681Ser	LDLR	2		Missense	Likely Pathogenic	31491741, 9409298, 9544745	Exon 14	Xanthomas	Unknown
LDLR_0028	c.?	p.Tyr419*	LDLR	4		Nonsense	Pathogenic	11851376, 12492446, 23375686, Show More >>	Exon 9	Xanthomas	Unknown
LDLR_0030	c.?	p.Trp562*	LDLR	18		Nonsense	Pathogenic	10947889, 11195242, 29396260, Show More >>	Exon 11	Angina, coronary artery disease, myocardial infarction	Unknown
LDLR_0031	c.?	p.Glu28fs	LDLR	1		Frameshift	Pathogenic	1301956	Exon 2		Unknown
LDLR_0022	c.-191C>A	5UTR	LDLR	1		UTR	Uncertain Significance	28104544	5' flanking region		Unknown
LDLR_0020	c.?	p.Trp180*	LDLR	1		Nonsense	Pathogenic	20006333, 21146822, 25014035, Show More >>	Exon 4		Unknown
LDLR_0019	c.?	p.Tyr188*	LDLR	17		Nonsense	Pathogenic	10422803, 16466730, 19602640, Show More >>	Exon 4	Xanthomas	Unknown
LDLR_0002	c.?	p.Trp6*	LDLR	1		Nonsense	Pathogenic	35024061	Exon 1	Corneal arcus, xanthelasmas, xanthomas, angina, myocardial infarction, valvular heart disease	Unknown
LDLR_0029	c.?	p.Tyr375Trpfs*7	LDLR	1		Frameshift	Pathogenic	29396260	Exon 8		Unknown
LDLR_0032	c.-185_-183del	5UTR	LDLR	1		UTR	Likely Pathogenic	1301956	5' flanking region		No
LDLR_0033	c.-175G>T	5UTR	LDLR	10		UTR	Uncertain Significance	10882754	5' flanking region	Corneal arcus, coronary artery disease, peripheral vascular disease, Corneal arcus, xanthomas	No
LDLR_0034	c.-163T>C	5UTR	LDLR	1		UTR	Uncertain Significance	30293936	5 flanking region		No
LDLR_0035	c.-156C>T	5UTR	LDLR	4		UTR	Uncertain Significance	21382890, 28104544, 31947532	5' flanking region		No
LDLR_0037	c.-155_-150delinsTT	5UTR	LDLR	1		UTR	Uncertain Significance	20809525	5' flanking region		No
LDLR_0036	c.-155_-150delinsTTCTGCAAACTCCTCCC	5UTR	LDLR	1		UTR	Likely Pathogenic	21538688	5' flanking region		No
LDLR_0038	c.-154C>T	5UTR	LDLR	1		UTR	Uncertain Significance	30293936	5 flanking region		No
LDLR_0039	c.-153C>T	5UTR	LDLR	3		UTR	Uncertain Significance	15303010, 22698793, 35052492	5' flanking region		No
LDLR_0040	c.-152C>T	5UTR	LDLR	23		UTR	Likely Pathogenic	16250003, 16542394, 34407635	5' flanking region		No
LDLR_0041	c.-150A>G	5UTR	LDLR	1		UTR	Uncertain Significance	30293936	5 flanking region		No
LDLR_0042	c.-149C>A	5UTR	LDLR	8		UTR	Uncertain Significance	22698793, 27824480	5' flanking region		No
LDLR_0043	c.-142C>T	5UTR	LDLR	12		UTR	Likely Pathogenic	11792717, 15241806, 18096825, Show More >>	5' flanking region		No
LDLR_0044	c.-140C>G	5UTR	LDLR	5		UTR	Likely Pathogenic	21538688	5' flanking region		No
LDLR_0046	c.-140C>A	5UTR	LDLR	3		UTR	Uncertain Significance	28379029, 35631530	5' flanking region		No
LDLR_0045	c.-140C>T	5UTR	LDLR	3		UTR	Likely Pathogenic	20809525, 21538688, 27784735	5' flanking region		No
LDLR_0048	c.-139C>G	5UTR	LDLR	2		UTR	Uncertain Significance	17625505	5' flanking region		No
LDLR_0049	c.-139C>T	5UTR	LDLR	1		UTR	Uncertain Significance	32044282	5' flanking region		No
LDLR_0047	c.-139C>A	5UTR	LDLR	1		UTR	Uncertain Significance	16250003	5' flanking region		No
LDLR_0050	c.-139_-130del	5UTR	LDLR	2		UTR	Uncertain Significance	29576406	5' flanking region	Xanthomas, cardiovascular disease, valvular heart disease	No
LDLR_0051	c.-138del	5UTR	LDLR	8		UTR	Likely Pathogenic	14616764, 15200491, 35631530	5' flanking region		No
LDLR_0052	c.-138T>C	5UTR	LDLR	1		UTR	Likely Pathogenic	8589690	5' flanking region		No
LDLR_0053	c.-137C>T	5UTR	LDLR	3		UTR	Uncertain Significance	15637307, 18718593, 9763532	5' flanking region	Xanthomas, coronary artery disease, cabg	No
LDLR_0055	c.-136C>T	5UTR	LDLR	19		UTR	Uncertain Significance	15359125, 16250003, 16542394, Show More >>	5' flanking region	Angina	No
LDLR_0054	c.-136C>G	5UTR	LDLR	1		UTR	Likely Pathogenic	21538688	5' flanking region		No
LDLR_0057	c.-135C>A	5UTR	LDLR	1		UTR	Uncertain Significance	28502510	5' flanking region		No
LDLR_0056	c.-135C>G	5UTR	LDLR	196		UTR	Likely Pathogenic	15241806, 16083882, 18096825, Show More >>	5' flanking region		No
LDLR_0058	c.-134C>T	5UTR	LDLR	1		UTR	Uncertain Significance	18718593	5' flanking region		No
LDLR_0059	c.-121T>C	5UTR	LDLR	2		UTR	Uncertain Significance	23669246, 24075752	5' flanking region		No
LDLR_0060	c.-120C>T	5UTR	LDLR	6		UTR	Likely Pathogenic	15303010, 21538688, 22698793, Show More >>	5' flanking region		No
LDLR_0061	c.-113A>T	5UTR	LDLR	1		UTR	Uncertain Significance	12052488	5' flanking region		No
LDLR_0062	c.-101T>C	5UTR	LDLR	1		UTR	Uncertain Significance	29843469	5 flanking region		No
LDLR_0063	c.-97G>A	5UTR	LDLR	1		UTR	Uncertain Significance	28965616	5' flanking region		No
LDLR_0064	c.-91_-89del	5UTR	LDLR	1		UTR	Uncertain Significance	11845603	5' flanking region		No
LDLR_0065	c.-88G>A	5UTR	LDLR	1		UTR	Uncertain Significance	21538688	5' flanking region		No
LDLR_0066	c.-84G>A	5UTR	LDLR	1	SNV	UTR	Uncertain Significance	30827231	Exon 1		Yes
LDLR_0067	c.-79C>G	5UTR	LDLR	1	SNV	UTR	Uncertain Significance	19118540	Exon 1		No
LDLR_0068	c.-68A>C	5UTR	LDLR	1	SNV	UTR	Uncertain Significance	15556094	Exon 1		Yes
LDLR_0069	c.-36T>G	5UTR	LDLR	1	SNV	UTR	Uncertain Significance	21538688	Exon 1		Yes
LDLR_0070	c.-34C>A	5UTR	LDLR	2	SNV	UTR	Uncertain Significance	9259195	Exon 1		No
LDLR_0071	c.-23A>C	5UTR	LDLR	1	SNV	UTR	Uncertain Significance	15241806	Exon 1		Yes
LDLR_0072	c.-22del	5UTR	LDLR	2	Deletion	UTR	Uncertain Significance	15823276	Exon 1	Xanthomas, coronary artery disease	Yes
LDLR_0073	c.-16G>C	5UTR	LDLR	2	SNV	UTR	Uncertain Significance	28964736, 29396260	Exon 1	Angina, coronary artery disease, myocardial infarction	Yes
LDLR_0074	c.-14C>A	5UTR	LDLR	2	SNV	UTR	Uncertain Significance	9259195	Exon 1		Yes
LDLR_0075	c.-13A>G	5UTR	LDLR	1	SNV	UTR	Likely Benign	28169869	Exon 1		Yes
LDLR_0076	c.-5C>T	5UTR	LDLR	1	SNV	UTR	Uncertain Significance	16250003	Exon 1		Yes
LDLR_0077	c.-4G>A	5UTR	LDLR	1	SNV	UTR	Uncertain Significance	30293936	Exon 1		Yes
LDLR_0080	c.1A>C	p.Met1?	LDLR	3	SNV	Initiator codon	Pathogenic	11668640, 16250003, 18718593	Exon 1		Yes
LDLR_0079	c.1A>T	p.Met1?	LDLR	8	SNV	Initiator codon	Pathogenic	17094996, 21382890, 30827231, Show More >>	Exon 1	Xanthomas	Yes
LDLR_0078	c.1A>G	p.Met1?	LDLR	8	SNV	Initiator codon	Pathogenic	21382890, 30312929, 30827231, Show More >>	Exon 1		Yes
LDLR_0081	c.2del	p.Met1?	LDLR	1	Deletion	Initiator codon	Pathogenic	36140363	Exon 1		No
LDLR_0082	c.2T>A	p.Met1?	LDLR	1	SNV	Initiator codon	Pathogenic	36140363	Exon 1		No
LDLR_0083	c.3G>A	p.Met1?	LDLR	1	SNV	Initiator codon	Pathogenic	28965616	Exon 1
LDLR_0084	c.3G>T	p.Met1?	LDLR	1	SNV	Initiator codon	Pathogenic	28379029	Exon 1
LDLR_0085	c.4G>A	p.Gly2Arg	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 1		Yes
LDLR_0086	c.4G>C	p.Gly2Arg	LDLR	3	SNV	Missense	Uncertain Significance	11933210, 25461735	Exon 1		Yes
LDLR_0087	c.6del	p.Trp4Glyfs*202	LDLR	11	Deletion	Frameshift	Pathogenic	17150201, 19797716, 22883975, Show More >>	Exon 1	Xanthomas	No
LDLR_0088	c.9del	p.Trp4Glyfs*202	LDLR	3	Deletion	Frameshift	Pathogenic	15241806, 27784735	Exon 1
LDLR_0089	c.11G>A	p.Trp4*	LDLR	23	SNV	Nonsense	Pathogenic	11237541, 11600564, 11668640, Show More >>	Exon 1		Yes
LDLR_0090	c.12G>A	p.Trp4*	LDLR	157	SNV	Nonsense	Pathogenic	10206683, 10790219, 15241806, Show More >>	Exon 1		Yes
LDLR_0091	c.13_14dup	p.Trp6Alafs*201	LDLR	1	Duplication	Frameshift	Pathogenic	38939573	Exon 1		No
LDLR_0092	c.14dup	p.Trp6Leufs*46	LDLR	1	Duplication	Frameshift	Pathogenic	38939573	Exon 1		No
LDLR_0093	c.15del	p.Trp6Glyfs*200	LDLR	1	Deletion	Frameshift	Pathogenic	38939573	Exon 1		No
LDLR_0094	c.15dup	p.Trp6Leufs*46	LDLR	1	Duplication	Frameshift	Pathogenic	38939573	Exon 1		No
LDLR_0095	c.15_16insG	p.Trp6Valfs*46	LDLR	1	Insertion	Frameshift	Pathogenic	38939573	Exon 1		No
LDLR_0096	c.16_17insTTCCT	p.Trp6Phefs*202	LDLR	1	Insertion	Frameshift	Pathogenic	27765764	Exon 1		No
LDLR_0097	c.17G>A	p.Trp6*	LDLR	1	SNV	Nonsense	Pathogenic	32759540	Exon 1		Yes
LDLR_0099	c.18dup	p.Lys7Glufs*45	LDLR	1	Duplication	Frameshift	Pathogenic	33533259	Exon 1		No
LDLR_0098	c.18del	p.Trp6*	LDLR	1	Deletion	Nonsense	Pathogenic	26339060	Exon 1		No
LDLR_0100	c.20_21del	p.Lys7Ilefs*44	LDLR	7	Deletion	Frameshift	Pathogenic	18718593, 31491741, 32331935, Show More >>	Exon 1		No
LDLR_0101	c.21del	p.Lys7Asnfs*199	LDLR	1	Deletion	Frameshift	Pathogenic	33533259	Exon 1		No
LDLR_0102	c.26G>A	p.Arg9His	LDLR	1	SNV	Missense	Uncertain Significance	35910211	Exon 1		No
LDLR_0103	c.28T>C	p.Trp10Arg	LDLR	3	SNV	Missense	Likely Pathogenic	16250003, 25461735	Exon 1		Yes
LDLR_0104	c.28T>A	p.Trp10Arg	LDLR	2	SNV	Missense	Likely Pathogenic	19446849, 9660059	Exon 1		Yes
LDLR_0105	c.28_38del	p.Trp10Leufs*38	LDLR	2	Deletion	Frameshift	Pathogenic	19446849, 23375686	Exon 1		No
LDLR_0106	c.29G>A	p.Trp10*	LDLR	1	SNV	Nonsense	Pathogenic	18718593	Exon 1		Yes
LDLR_0107	c.30del	p.Trp10*	LDLR	1	Deletion	Nonsense	Pathogenic	18718593	Exon 1		No
LDLR_0108	c.38_58del	p.Ala13_Ala19del	LDLR	1	Deletion	Deletion	Uncertain Significance	28965616	Exon 1		No
LDLR_0109	c.39del	p.Leu14Cysfs*192	LDLR	1	Deletion	Frameshift	Pathogenic	19837725	Exon 1		No
LDLR_0112	c.41dup	p.Leu14Phefs*38	LDLR	4	Duplication	Frameshift	Pathogenic	15823276, 19837725, 33794673	Exon 1	Corneal arcus, xanthomas, coronary artery disease	No
LDLR_0111	c.41T>C	p.Leu14Ser	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 1		No
LDLR_0110	c.41del	p.Leu14Cysfs*192	LDLR	1	Deletion	Frameshift	Pathogenic	19837725	Exon 1		No
LDLR_0113	c.42del	p.Leu14Phefs*192	LDLR	1	Deletion	Frameshift	Pathogenic	19837725	Exon 1		No
LDLR_0114	c.44T>C	p.Leu15Pro	LDLR	1	SNV	Missense	Likely Pathogenic	28169869	Exon 1		Yes
LDLR_0115	c.44T>A	p.Leu15His	LDLR	1	SNV	Missense	Likely Pathogenic	15199436	Exon 1		Yes
LDLR_0116	c.47T>C	p.Leu16Pro	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 1		Yes
LDLR_0117	c.48C>A	p.Leu16=	LDLR	2	SNV	Silent	Uncertain Significance	27784735, 30293936	Exon 1		Yes
LDLR_0119	c.56C>A	p.Ala19Glu	LDLR	6	SNV	Missense	Uncertain Significance	10782930	Exon 1		Yes
LDLR_0118	c.56C>G	p.Ala19Gly	LDLR	1	SNV	Missense	Uncertain Significance	9259195	Exon 1		Yes
LDLR_0120	c.58G>A	p.Gly20Arg	LDLR	1	SNV	Missense	Likely Benign	33519890	Exon 1		Yes
LDLR_0121	c.64del	p.Ala22Glnfs*184	LDLR	7	Deletion	Frameshift	Pathogenic	22353362, 25911080, 28502495, Show More >>	Exon 1	Xanthomas	Yes
LDLR_0122	c.67+1G>T	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	28964736	Intron 1		Yes
LDLR_0123	c.67+2T>A	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	12436241	Intron 1		Yes
LDLR_0124	c.67+18C>A	Intronic	LDLR	1	SNV	Intronic	Benign	27771416	Intron 1		Yes
LDLR_0125	c.67+121C>T	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 1		No
LDLR_0126	c.67+194C>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	24284361	Intron 1		No
LDLR_0127	c.67+515C>T	Intronic	LDLR	1	SNV	Intronic	Benign		Intron 1		No
LDLR_0128	c.67+833T>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	32869547	Intron 1		Yes
LDLR_0129	c.67+838_67+839insG	Intronic	LDLR	1	Insertion	Intronic	Benign		Intron 1		No
LDLR_0130	c.67+1700del	Intronic	LDLR	1	Deletion	Intronic	Benign		Intron 1		No
LDLR_0131	c.67+2015G>T	Intronic	LDLR	1	SNV	Intronic	Benign	21862702	Intron 1		Yes
LDLR_0132	c.68-4859C>T	Intronic	LDLR	1	SNV	Intronic	Benign		Intron 1		No
LDLR_0133	c.68-4369T>A	Intronic	LDLR	1	SNV	Intronic	Benign		Intron 1		No
LDLR_0134	c.68-110C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	23537714	Intron 1		No
LDLR_0135	c.68-5_68-2del	Intronic	LDLR	1	Deletion	Splice acceptor	Pathogenic	11810272	Intron 1		Yes
LDLR_0137	c.68-2A>C	Intronic	LDLR	4	SNV	Splice acceptor	Pathogenic	28502495	Intron 1		Yes
LDLR_0136	c.68-2A>G	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	37565868	Intron 1	Xanthomas	Yes
LDLR_0138	c.68-2A>T	Intronic	LDLR	6	SNV	Splice acceptor	Pathogenic	22698793, 27824480	Intron 1		Yes
LDLR_0139	c.68-1G>C	Intronic	LDLR	16	SNV	Splice acceptor	Pathogenic	10200052, 23375686, 27206942, Show More >>	Intron 1		Yes
LDLR_0140	c.70G>A	p.Gly24Ser	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 2		No
LDLR_0141	c.73G>A	p.Asp25Asn	LDLR	1	SNV	Missense	Likely Pathogenic	19118540	Exon 2		Yes
LDLR_0142	c.75C>G	p.Asp25Glu	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 2		No
LDLR_0143	c.76A>T	p.Arg26*	LDLR	1	SNV	Nonsense	Pathogenic	16250003	Exon 2		Yes
LDLR_0144	c.77del	p.Arg26Asnfs*180	LDLR	1	Deletion	Frameshift	Pathogenic	11005141	Exon 2		No
LDLR_0145	c.77_78del	p.Arg26Metfs*25	LDLR	1	Deletion	Frameshift	Pathogenic	11005141	Exon 2		No
LDLR_0146	c.78del	p.Arg26Serfs*180	LDLR	1	Deletion	Frameshift	Pathogenic	11005141	Exon 2		No
LDLR_0147	c.80_81delinsAA	p.Cys27*	LDLR	1	Delins	Nonsense	Pathogenic	33890476	Exon 2		No
LDLR_0150	c.81C>A	p.Cys27*	LDLR	3	SNV	Nonsense	Pathogenic	15556094, 23375686, 32759540	Exon 2		Yes
LDLR_0148	c.81C>G	p.Cys27Trp	LDLR	138	SNV	Missense	Pathogenic	10357843, 11317361, 11668627, Show More >>	Exon 2	Cardiovascular disease, Xanthomas, Xanthomas, coronary artery disease, cabg	Yes
LDLR_0149	c.81C>T	p.Cys27=	LDLR	1	SNV	Silent	Benign	24902015	Exon 2		Yes
LDLR_0151	c.82G>T	p.Glu28*	LDLR	2	SNV	Nonsense	Pathogenic	35052492	Exon 2		Yes
LDLR_0152	c.85A>T	p.Arg29*	LDLR	1	SNV	Nonsense	Pathogenic	33418990	Exon 2		Yes
LDLR_0153	c.89_92dup	p.Phe32Argfs*21	LDLR	1	Duplication	Frameshift	Pathogenic	38867270	Exon 2		No
LDLR_0154	c.90C>T	p.Asn30=	LDLR	1	SNV	Silent	Benign	25606447	Exon 2		Yes
LDLR_0157	c.91G>A	p.Glu31Lys	LDLR	3	SNV	Missense	Likely Pathogenic	20145306, 32044282, 34428338	Exon 2		Yes
LDLR_0156	c.91del	p.Glu31Serfs*175	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 2		No
LDLR_0155	c.91G>T	p.Glu31*	LDLR	101	SNV	Nonsense	Pathogenic	10208484, 10790219, 11257257, Show More >>	Exon 2		Yes
LDLR_0158	c.91_104del	p.Glu31Argfs*16	LDLR	1	Deletion	Frameshift	Pathogenic	28475941	Exon 2		Yes
LDLR_0159	c.93_99del	p.Glu31Aspfs*173	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 2		Yes
LDLR_0160	c.94T>C	p.Phe32Leu	LDLR	1	SNV	Missense	Likely Pathogenic	28965616	Exon 2		No
LDLR_0161	c.94_111del	p.Phe32_Gly37del	LDLR	3	Deletion	Deletion	Likely Pathogenic	31491741, 32331935, 33533259	Exon 2		No
LDLR_0164	c.95T>G	p.Phe32Cys	LDLR	1	SNV	Missense	Likely Pathogenic	11810272	Exon 2		Yes
LDLR_0162	c.95dup	p.Gln33Profs*19	LDLR	1	Duplication	Frameshift	Pathogenic	18325082	Exon 2		No
LDLR_0163	c.95T>C	p.Phe32Ser	LDLR	1	SNV	Missense	Likely Pathogenic	23064986	Exon 2		Yes
LDLR_0165	c.96C>G	p.Phe32Leu	LDLR	1	SNV	Missense	Uncertain Significance	28965616	Exon 2		No
LDLR_0167	c.97del	p.Gln33Serfs*173	LDLR	1	Deletion	Frameshift	Pathogenic	18325082	Exon 2		No
LDLR_0166	c.97C>T	p.Gln33*	LDLR	246	SNV	Nonsense	Pathogenic	10978268, 12436241, 1301940, Show More >>	Exon 2	Corneal arcus, xanthomas, Coronary artery disease, Xanthomas, Xanthomas, cardiov Show More >>	Yes
LDLR_0168	c.99del	p.Gln33Hisfs*173	LDLR	1	Deletion	Frameshift	Pathogenic	18325082	Exon 2		Yes
LDLR_0170	c.100T>G	p.Cys34Gly	LDLR	21	SNV	Missense	Likely Pathogenic	20809525, 22698793, 26666465, Show More >>	Exon 2	Corneal arcus, xanthomas	Yes
LDLR_0169	c.100T>C	p.Cys34Arg	LDLR	3	SNV	Missense	Likely Pathogenic	33231818, 35137788	Exon 2		No
LDLR_0171	c.101G>C	p.Cys34Ser	LDLR	7	SNV	Missense	Likely Pathogenic	20538126, 21376320, 28502495, Show More >>	Exon 2		Yes
LDLR_0173	c.102C>A	p.Cys34*	LDLR	1	SNV	Nonsense	Pathogenic	20809525	Exon 2		Yes
LDLR_0172	c.102C>G	p.Cys34Trp	LDLR	1	SNV	Missense	Likely Pathogenic	34297352	Exon 2		Yes
LDLR_0174	c.103C>T	p.Gln35*	LDLR	6	SNV	Nonsense	Pathogenic	10978268, 16343504, 23375686, Show More >>	Exon 2	Coronary artery disease, Xanthomas, coronary artery disease	Yes
LDLR_0175	c.105_106insC	p.Asp36Argfs*16	LDLR	1	Insertion	Frameshift	Pathogenic	38695169	Exon 2		No
LDLR_0176	c.108C>A	p.Asp36Glu	LDLR	1	SNV	Missense	Likely Pathogenic	11810272	Exon 2		Yes
LDLR_0177	c.108del	p.Asp36Glufs*170	LDLR	3	Deletion	Frameshift	Pathogenic	15241806, 38695169	Exon 2	Coronary artery disease, cabg, valvular heart disease	Yes
LDLR_0178	c.109G>A	p.Gly37Arg	LDLR	1	SNV	Missense	Likely Pathogenic	33890476	Exon 2		Yes
LDLR_0179	c.112A>T	p.Lys38*	LDLR	1	SNV	Nonsense	Pathogenic	31993549	Exon 2		No
LDLR_0180	c.114dup	p.Cys39Metfs*13	LDLR	52	Duplication	Frameshift	Pathogenic	11237541, 11600564, 11668640, Show More >>	Exon 2		No
LDLR_0181	c.115_116insA	p.Cys39*	LDLR	1	Insertion	Nonsense	Pathogenic	34297352	Exon 2		No
LDLR_0182	c.116_117delinsAA	p.Cys39*	LDLR	7	Delins	Nonsense	Pathogenic	20045108, 21865347, 23375686, Show More >>	Exon 2		Yes
LDLR_0183	c.117del	p.Cys39*	LDLR	1	Deletion	Frameshift	Pathogenic	34297352	Exon 2		Yes
LDLR_0184	c.118del	p.Ile40Serfs*166	LDLR	4	Deletion	Frameshift	Pathogenic	10208479, 11313767, 19797716	Exon 2	Coronary artery disease	Yes
LDLR_0185	c.119dup	p.Ser41Leufs*11	LDLR	1	Duplication	Frameshift	Pathogenic	36648309	Exon 2		No
LDLR_0186	c.119_120insAATTG	p.Ser41Ilefs*167	LDLR	1	Insertion	Frameshift	Pathogenic	36648309	Exon 2		No
LDLR_0188	c.126C>G	p.Tyr42*	LDLR	1	SNV	Nonsense	Pathogenic	35795214	Exon 2		Yes
LDLR_0187	c.126C>A	p.Tyr42*	LDLR	4	SNV	Nonsense	Pathogenic	23375686, 25461735, 28965616	Exon 2		Yes
LDLR_0189	c.129G>C	p.Lys43Asn	LDLR	1	SNV	Missense	Uncertain Significance	30637778	Exon 2		No
LDLR_0190	c.130_131dup	p.Trp44Cysfs*163	LDLR	1	Duplication	Frameshift	Pathogenic	23375686	Exon 2		No
LDLR_0191	c.131G>A	p.Trp44*	LDLR	866	SNV	Nonsense	Pathogenic	34176852, 10208484, 10532689, Show More >>	Exon 2	Xanthomas, Xanthomas, coronary artery disease, Xanthomas, peripheral vascular disease, Xanthomas, stroke	Yes
LDLR_0192	c.131G>T	p.Trp44Leu	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 2		Yes
LDLR_0193	c.133del	p.Val45Serfs*161	LDLR	1	Deletion	Frameshift	Pathogenic	28964736	Exon 2		No
LDLR_0194	c.133G>T	p.Val45Phe	LDLR	2	SNV	Missense	Likely Pathogenic	35560019	Exon 2		No
LDLR_0195	c.136T>G	p.Cys46Gly	LDLR	1	SNV	Missense	Pathogenic	17094996	Exon 2		Yes
LDLR_0196	c.137G>C	p.Cys46Ser	LDLR	1	SNV	Missense	Likely Pathogenic	11298688	Exon 2		Yes
LDLR_0197	c.137G>A	p.Cys46Tyr	LDLR	15	SNV	Missense	Likely Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 2		Yes
LDLR_0198	c.137_138delinsCG	p.Cys46Ser	LDLR	4	Delins	Missense	Likely Pathogenic	11298688	Exon 2	Xanthomas, angina, coronary artery disease
LDLR_0200	c.138C>A	p.Cys46*	LDLR	2	SNV	Nonsense	Pathogenic	12730724, 16806138, 32759540	Exon 2	Xanthelasmas, xanthomas, coronary artery disease	Yes
LDLR_0199	c.138C>T	p.Cys46=	LDLR	1	SNV	Silent	Uncertain Significance	7603991	Exon 2		Yes
LDLR_0201	c.138C>G	p.Cys46Trp	LDLR	1	SNV	Missense	Likely Pathogenic	32829317	Exon 2		Yes
LDLR_0202	c.139G>A	p.Asp47Asn	LDLR	4	SNV	Missense	Conflict	11313767, 18718593, 29399563, Show More >>	Exon 2		Yes
LDLR_0203	c.139_144del	p.Asp47_Gly48del	LDLR	15	Deletion	Deletion	Likely Pathogenic	10882754, 11845603, 28220743, Show More >>	Exon 2	Corneal arcus, xanthomas, Myocardial infarction	No
LDLR_0204	c.140A>C	p.Asp47Ala	LDLR	1	SNV	Missense	Uncertain Significance	14749324	Exon 2		No
LDLR_0205	c.143G>A	p.Gly48Asp	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 2		Yes
LDLR_0206	c.146G>T	p.Ser49Ile	LDLR	1	SNV	Missense	Uncertain Significance	20145306	Exon 2		No
LDLR_0209	c.148del	p.Ala50Leufs*156	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 2		Yes
LDLR_0208	c.148G>T	p.Ala50Ser	LDLR	13	SNV	Missense	Uncertain Significance	10090484, 10735632, 11810272, Show More >>	Exon 2		Yes
LDLR_0207	c.148G>A	p.Ala50Thr	LDLR	5	SNV	Missense	Uncertain Significance	10422804, 11845603, 17347910	Exon 2		Yes
LDLR_0210	c.151G>A	p.Glu51Lys	LDLR	1	SNV	Missense	Likely Pathogenic	32331935	Exon 2		No
LDLR_0211	c.152del	p.Glu51Glyfs*155	LDLR	1	Deletion	Frameshift	Pathogenic	30293936	Exon 2		No
LDLR_0212	c.154T>G	p.Cys52Gly	LDLR	1	SNV	Missense	Uncertain Significance	7603991	Exon 2		No
LDLR_0213	c.155G>A	p.Cys52Tyr	LDLR	1	SNV	Missense	Pathogenic	1301956	Exon 2		Yes
LDLR_0214	c.157C>T	p.Gln53*	LDLR	2	SNV	Nonsense	Pathogenic	16250003, 16792510	Exon 2		Yes
LDLR_0215	c.161A>C	p.Asp54Ala	LDLR	1	SNV	Missense	Uncertain Significance	14749324	Exon 2		Yes
LDLR_0216	c.165C>G	p.Gly55=	LDLR	1	SNV	Silent	Uncertain Significance	27765764	Exon 2		Yes
LDLR_0217	c.166T>C	p.Ser56Pro	LDLR	5	SNV	Missense	Likely Pathogenic	25463123, 9104431	Exon 2		Yes
LDLR_0218	c.169G>T	p.Asp57Tyr	LDLR	1	SNV	Missense	Uncertain Significance	3417658	Exon 2		No
LDLR_0219	c.169G>A	p.Asp57Asn	LDLR	2	SNV	Missense	Likely Pathogenic	20145306, 35910211	Exon 2		Yes
LDLR_0220	c.170A>C	p.Asp57Ala	LDLR	1	SNV	Missense	Likely Pathogenic	28502510	Exon 2		Yes
LDLR_0221	c.171_173del	p.Asp57del	LDLR	4	Deletion	Deletion	Likely Pathogenic	11668627, 15576851, 16389549, Show More >>	Exon 2		No
LDLR_0222	c.171_184del	p.Glu58Valfs*67	LDLR	1	Deletion	Frameshift	Pathogenic	33890476	Exon 2		No
LDLR_0223	c.172G>A	p.Glu58Lys	LDLR	1	SNV	Missense	Uncertain Significance	15199436	Exon 2		Yes
LDLR_0224	c.172del	p.Glu58Serfs*148	LDLR	1	Deletion	Frameshift	Pathogenic	29369830	Exon 2		Yes
LDLR_0226	c.173A>G	p.Glu58Gly	LDLR	3	SNV	Missense	Likely Pathogenic	19446849, 23375686	Exon 2		Yes
LDLR_0225	c.173A>C	p.Glu58Ala	LDLR	1	SNV	Missense	Uncertain Significance	14749324	Exon 2		No
LDLR_0227	c.178C>T	p.Gln60*	LDLR	1	SNV	Nonsense	Pathogenic	26802169	Exon 2		Yes
LDLR_0228	c.185C>T	p.Thr62Met	LDLR	1	SNV	Missense	Likely Benign	29172679	Exon 2		Yes
LDLR_0229	c.185_186insT	p.Cys63Valfs*67	LDLR	1	Insertion	Frameshift	Pathogenic	23375686	Exon 2		Yes
LDLR_0230	c.186G>A	p.Thr62=	LDLR	1	SNV	Silent	Uncertain Significance	22220933	Exon 2		Yes
LDLR_0231	c.187del	p.Cys63Alafs*143	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 2		No
LDLR_0232	c.187T>C	p.Cys63Arg	LDLR	3	SNV	Missense	Likely Pathogenic	11668627, 23375686, 27765764	Exon 2		Yes
LDLR_0233	c.188G>T	p.Cys63Phe	LDLR	1	SNV	Missense	Likely Pathogenic	16792510	Exon 2		Yes
LDLR_0235	c.190+1G>T	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	17347910	Intron 2		Yes
LDLR_0234	c.190+1G>A	Intronic	LDLR	12	SNV	Splice donor	Pathogenic	10441197, 11851376, 20145306, Show More >>	Intron 2		Yes
LDLR_0236	c.190+2T>G	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	15576851	Intron 2		Yes
LDLR_0237	c.190+4A>T	Intronic	LDLR	19	SNV	Splice region	Likely Pathogenic	16205024, 16250003, 16792510, Show More >>	Intron 2	Cardiovascular disease, Myocardial infarction	Yes
LDLR_0238	c.190+4_190+5insTG	Intronic	LDLR	2	Insertion	Splice region	Pathogenic	20828696, 20964105	Intron 2		No
LDLR_0239	c.190+4_190+7del	Intronic	LDLR	1	Deletion	Splice region	Uncertain Significance	34650182	Intron 2		Yes
LDLR_0240	c.190+34T>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20145306	Intron 2		Yes
LDLR_0241	c.190+56G>A	Intronic	LDLR	1	SNV	Intronic	Benign	15823276	Intron 2		Yes
LDLR_0242	c.190+58C>T	Intronic	LDLR	1	SNV	Intronic	Benign	30270082	Intron 2		Yes
LDLR_0243	c.190+361A>T	Intronic	LDLR	2	SNV	Intronic	Uncertain Significance	23815734	Intron 2		No
LDLR_0245	c.191-252_191-247del	Intronic	LDLR	1	Deletion	Intronic	Uncertain Significance	23815734	Intron 2		No
LDLR_0244	c.191-254_191-249del	Intronic	LDLR	16	Deletion	Intronic	Uncertain Significance	23815734	Intron 2
LDLR_0246	c.191-103C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	24284361	Intron 2		No
LDLR_0247	c.191-9_191-8del	Intronic	LDLR	1	Deletion	Intronic	Uncertain Significance	34182004	Intron 2		No
LDLR_0251	c.191-2A>C	Intronic	LDLR	3	SNV	Splice acceptor	Pathogenic	31491741, 32331935	Intron 2		No
LDLR_0248	c.191-2A>G	Intronic	LDLR	277	SNV	Splice acceptor	Pathogenic	11810272, 19208450, 21382890, Show More >>	Intron 2	Myocardial infarction	Yes
LDLR_0249	c.191-2delinsCT	Intronic	LDLR	2	Delins	Splice acceptor	Pathogenic	15241806	Intron 2		No
LDLR_0250	c.191-2dup	Intronic	LDLR	1	Duplication	Splice region	Uncertain Significance	30270055	Intron 2		No
LDLR_0252	c.191-1G>A	Intronic	LDLR	3	SNV	Splice acceptor	Pathogenic	12436241, 27824480	Intron 2		Yes
LDLR_0253	c.193T>A	p.Ser65Thr	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 3		No
LDLR_0254	c.193_201delinsGACTTCA	p.Ser65Aspfs*64	LDLR	3	Delins	Frameshift	Pathogenic	24373485, 28458923	Exon 3		No
LDLR_0255	c.193_202delinsGGACTTCA	p.Ser65Glyfs*64	LDLR	1	Delins	Frameshift	Pathogenic	33418990	Exon 3		No
LDLR_0256	c.194_195insAT	p.Val66Leufs*141	LDLR	1	Insertion	Frameshift	Pathogenic	37724074	Exon 3		No
LDLR_0257	c.195dup	p.Val66Cysfs*64	LDLR	1	Duplication	Frameshift	Pathogenic	24373485	Exon 3		Yes
LDLR_0258	c.195_196insAT	p.Val66Metfs*141	LDLR	5	Insertion	Frameshift	Pathogenic	10090484, 9676383	Exon 3		No
LDLR_0259	c.196G>T	p.Val66Phe	LDLR	1	SNV	Missense	Uncertain Significance	35999587	Exon 3		No
LDLR_0260	c.196_197del	p.Val66Hisfs*63	LDLR	4	Deletion	Frameshift	Pathogenic	15998910, 17094996, 22883975, Show More >>	Exon 3		No
LDLR_0262	c.197dup	p.Thr67Hisfs*63	LDLR	1	Duplication	Frameshift	Pathogenic	23375686	Exon 3		No
LDLR_0263	c.197del	p.Val66Alafs*140	LDLR	1	Deletion	Frameshift	Pathogenic	37724074	Exon 3		No
LDLR_0261	c.197T>A	p.Val66Asp	LDLR	1	SNV	Missense	Uncertain Significance	35999587	Exon 3		No
LDLR_0264	c.199dup	p.Thr67Asnfs*63	LDLR	1	Duplication	Frameshift	Pathogenic	23375686	Exon 3		Yes
LDLR_0265	c.200C>T	p.Thr67Ile	LDLR	2	SNV	Missense	Likely Pathogenic	33418990	Exon 3		Yes
LDLR_0266	c.202T>C	p.Cys68Arg	LDLR	5	SNV	Missense	Uncertain Significance	34316823	Exon 3	Corneal arcus, xanthelasmas, xanthomas, angina, coronary artery disease, cabg, myocardial infarction, peripheral vascular disease	Yes
LDLR_0267	c.203G>T	p.Cys68Phe	LDLR	2	SNV	Missense	Likely Pathogenic	33418990	Exon 3		Yes
LDLR_0268	c.204C>A	p.Cys68*	LDLR	2	SNV	Nonsense	Pathogenic	17094996, 23680767	Exon 3		Yes
LDLR_0269	c.211G>A	p.Gly71Arg	LDLR	2	SNV	Missense	Likely Pathogenic	16205024, 34526433	Exon 3		Yes
LDLR_0270	c.214del	p.Asp72Thrfs*134	LDLR	32	Deletion	Frameshift	Pathogenic	10559517, 10790219, 15241806, Show More >>	Exon 3		No
LDLR_0271	c.216_220del	p.Asp72Glufs*56	LDLR	1	Deletion	Frameshift	Pathogenic	18096825	Exon 3		No
LDLR_0272	c.218T>G	p.Phe73Cys	LDLR	1	SNV	Missense	Likely Pathogenic	28235710	Exon 3		No
LDLR_0273	c.223T>C	p.Cys75Arg	LDLR	2	SNV	Missense	Likely Pathogenic	31491741, 32331935	Exon 3		No
LDLR_0274	c.223T>A	p.Cys75Ser	LDLR	3	SNV	Missense	Likely Pathogenic	10089940, 34327453, 37119068	Exon 3		Yes
LDLR_0275	c.224G>A	p.Cys75Tyr	LDLR	2	SNV	Missense	Likely Pathogenic	32759540, 9676383	Exon 3		Yes
LDLR_0277	c.225T>G	p.Cys75Trp	LDLR	1	SNV	Missense	Likely Pathogenic	17094996	Exon 3		Yes
LDLR_0276	c.225T>A	p.Cys75*	LDLR	1	SNV	Nonsense	Likely Pathogenic	14654040	Exon 3		No
LDLR_0278	c.226G>C	p.Gly76Arg	LDLR	2	SNV	Missense	Likely Pathogenic	34970301, 36229885	Exon 3	Corneal arcus, xanthomas, coronary artery disease, valvular heart disease, Xanthomas	Yes
LDLR_0279	c.226G>T	p.Gly76Trp	LDLR	1	SNV	Missense	Conflict	28169869	Exon 3		Yes
LDLR_0280	c.227_233del	p.Gly76Valfs*128	LDLR	2	Deletion	Frameshift	Pathogenic	34363016, 34393074	Exon 3		No
LDLR_0281	c.229G>T	p.Gly77Cys	LDLR	2	SNV	Missense	Likely Pathogenic	31491741, 32331935	Exon 3		No
LDLR_0283	c.230del	p.Gly77Alafs*129	LDLR	3	Deletion	Frameshift	Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 3		No
LDLR_0282	c.230dup	p.Arg78Profs*52	LDLR	3	Duplication	Frameshift	Pathogenic	28964736, 33418990	Exon 3		No
LDLR_0285	c.232C>T	p.Arg78Cys	LDLR	11	SNV	Missense	Likely Pathogenic	10422804, 11845603, 22883975, Show More >>	Exon 3		Yes
LDLR_0284	c.232del	p.Arg78Valfs*128	LDLR	1	Deletion	Frameshift	Pathogenic	15241806	Exon 3		No
LDLR_0287	c.233G>A	p.Arg78His	LDLR	2	SNV	Missense	Likely Pathogenic	20809525, 31993549	Exon 3		Yes
LDLR_0286	c.233del	p.Arg78Leufs*128	LDLR	3	Deletion	Frameshift	Pathogenic	27765764, 34297352	Exon 3		Yes
LDLR_0288	c.236dup	p.Asn80Glnfs*50	LDLR	4	Duplication	Frameshift	Pathogenic	26020417	Exon 3		Yes
LDLR_0289	c.240C>A	p.Asn80Lys	LDLR	3	SNV	Missense	Uncertain Significance	15241806, 27784735	Exon 3		Yes
LDLR_0290	c.241C>A	p.Arg81Ser	LDLR	1	SNV	Missense	Likely Pathogenic	21382890	Exon 3		Yes
LDLR_0291	c.241dup	p.Arg81Profs*49	LDLR	2	Duplication	Frameshift	Pathogenic	20006333, 21146822, 25014035, Show More >>	Exon 3	Xanthomas	No
LDLR_0292	c.241C>T	p.Arg81Cys	LDLR	29	SNV	Missense	Likely Pathogenic	10422804, 11810272, 11845603, Show More >>	Exon 3		Yes
LDLR_0295	c.242G>A	p.Arg81His	LDLR	1	SNV	Missense	Likely Benign	30583242	Exon 3		Yes
LDLR_0293	c.242dup	p.Cys82Leufs*48	LDLR	1	Duplication	Frameshift	Pathogenic	20809525	Exon 3		Yes
LDLR_0294	c.242G>C	p.Arg81Pro	LDLR	1	SNV	Missense	Uncertain Significance	25014035	Exon 3		No
LDLR_0297	c.244T>G	p.Cys82Gly	LDLR	4	SNV	Missense	Likely Pathogenic	20809525, 28964736	Exon 3		Yes
LDLR_0296	c.244del	p.Cys82Alafs*124	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 3		Yes
LDLR_0299	c.245G>C	p.Cys82Ser	LDLR	2	SNV	Missense	Likely Pathogenic	25461735, 28458923	Exon 3		Yes
LDLR_0300	c.245G>T	p.Cys82Phe	LDLR	3	SNV	Missense	Likely Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 3		Yes
LDLR_0298	c.245G>A	p.Cys82Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	11196104	Exon 3		Yes
LDLR_0301	c.246C>A	p.Cys82*	LDLR	7	SNV	Nonsense	Pathogenic	11524740, 22698793, 22883975, Show More >>	Exon 3		Yes
LDLR_0302	c.246del	p.Cys82*	LDLR	1	Deletion	Nonsense	Pathogenic	28965616	Exon 3		No
LDLR_0303	c.249delinsGG	p.Ile83Metfs*47	LDLR	12	Delins	Frameshift	Pathogenic	32104752, 37119068	Exon 3	Xanthomas, peripheral vascular disease	No
LDLR_0304	c.250C>T	p.Pro84Ser	LDLR	1	SNV	Missense	Likely Pathogenic	11810272	Exon 3		Yes
LDLR_0305	c.251C>T	p.Pro84Leu	LDLR	1	SNV	Missense	Likely Pathogenic	22883975	Exon 3		Yes
LDLR_0306	c.251C>G	p.Pro84Arg	LDLR	1	SNV	Missense	Likely Pathogenic	16159606	Exon 3		Yes
LDLR_0307	c.253C>T	p.Gln85*	LDLR	4	SNV	Nonsense	Pathogenic	11845603, 20145306, 33994402	Exon 3		Yes
LDLR_0308	c.255G>T	p.Gln85His	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 3		Yes
LDLR_0309	c.257_265del	p.Phe86_Arg88del	LDLR	2	Deletion	Deletion	Likely Pathogenic	11462246, 9676383	Exon 3		No
LDLR_0312	c.259T>C	p.Trp87Arg	LDLR	3	SNV	Missense	Likely Pathogenic	27596133, 34456200	Exon 3	Xanthomas, cardiovascular disease	Yes
LDLR_0310	c.259T>G	p.Trp87Gly	LDLR	2778	SNV	Missense	Pathogenic	10208479, 10208484, 10208489, Show More >>	Exon 3	Corneal arcus, xanthomas, angina, coronary artery disease, Coronary artery disea Show More >>	Yes
LDLR_0311	c.259T>A	p.Trp87Arg	LDLR	2	SNV	Missense	Likely Pathogenic	35194765	Exon 3	Xanthomas, coronary artery disease	No
LDLR_0313	c.260G>A	p.Trp87*	LDLR	1	SNV	Nonsense	Pathogenic	28645073	Exon 3		Yes
LDLR_0315	c.261G>A	p.Trp87*	LDLR	11	SNV	Nonsense	Pathogenic	17094996, 21990180	Exon 3		Yes
LDLR_0314	c.261del	p.Trp87*	LDLR	1	Deletion	Nonsense	Pathogenic	28645073	Exon 3		No
LDLR_0316	c.261_262delinsAG	p.Trp87*	LDLR	3	Delins	Nonsense	Pathogenic	20452591, 34029164, 37119068	Exon 3	Angina, metabolic phenotype, myocardial infarction
LDLR_0317	c.262A>G	p.Arg88Gly	LDLR	1	SNV	Missense	Uncertain Significance	23537714	Exon 3		Yes
LDLR_0318	c.263G>A	p.Arg88Lys	LDLR	1	SNV	Missense	Uncertain Significance	37535750	Exon 3		Yes
LDLR_0319	c.264G>C	p.Arg88Ser	LDLR	2	SNV	Missense	Likely Pathogenic	21457052, 35910211	Exon 3	Coronary artery disease, myocardial infarction	Yes
LDLR_0321	c.265T>C	p.Cys89Arg	LDLR	24	SNV	Missense	Likely Pathogenic	10978268, 16250003, 16343504, Show More >>	Exon 3	Xanthomas	Yes
LDLR_0320	c.265T>G	p.Cys89Gly	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 3		Yes
LDLR_0322	c.266G>A	p.Cys89Tyr	LDLR	15	SNV	Missense	Likely Pathogenic	10559517, 16159606, 16250003, Show More >>	Exon 3		Yes
LDLR_0323	c.266G>C	p.Cys89Ser	LDLR	2	SNV	Missense	Likely Pathogenic	34834584, 37808210	Exon 3	Coronary artery disease, cabg, myocardial infarction	No
LDLR_0324	c.267C>G	p.Cys89Trp	LDLR	53	SNV	Missense	Pathogenic	10208479, 11237541, 11313767, Show More >>	Exon 3		Yes
LDLR_0325	c.267C>A	p.Cys89*	LDLR	1	SNV	Nonsense	Pathogenic	31491741	Exon 3		No
LDLR_0326	c.268G>A	p.Asp90Asn	LDLR	113	SNV	Missense	Pathogenic	11005141, 12436241, 12837857, Show More >>	Exon 3	Cardiovascular disease, Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_0327	c.268G>T	p.Asp90Tyr	LDLR	4	SNV	Missense	Likely Pathogenic	11845603, 23369702, 34456200, Show More >>	Exon 3	Xanthomas	Yes
LDLR_0329	c.269A>C	p.Asp90Ala	LDLR	6	SNV	Missense	Likely Pathogenic	17094996, 27578117, 37119068	Exon 3	Coronary artery disease	Yes
LDLR_0328	c.269A>G	p.Asp90Gly	LDLR	22	SNV	Missense	Pathogenic	10208479, 11313767, 12436241, Show More >>	Exon 3	Coronary artery disease, cabg	Yes
LDLR_0330	c.270T>G	p.Asp90Glu	LDLR	3	SNV	Missense	Likely Pathogenic	27824480	Exon 3		Yes
LDLR_0331	c.270T>A	p.Asp90Glu	LDLR	10	SNV	Missense	Likely Pathogenic	20809525, 34327453	Exon 3		Yes
LDLR_0332	c.271G>A	p.Gly91Ser	LDLR	1	SNV	Missense	Uncertain Significance	33955087	Exon 3		Yes
LDLR_0333	c.272del	p.Gly91Alafs*115	LDLR	6	Deletion	Frameshift	Pathogenic	23162007	Exon 3	Corneal arcus, xanthelasmas, xanthomas, angina, coronary artery disease, peripheral vascular disease	No
LDLR_0334	c.274C>T	p.Gln92*	LDLR	4	SNV	Nonsense	Pathogenic	19837725	Exon 3	Xanthomas	Yes
LDLR_0335	c.274C>G	p.Gln92Glu	LDLR	486	SNV	Missense	Likely Pathogenic	10206683, 10208484, 10790219, Show More >>	Exon 3		Yes
LDLR_0337	c.280G>T	p.Asp94Tyr	LDLR	1	SNV	Missense	Uncertain Significance	17539906	Exon 3		Yes
LDLR_0336	c.280G>A	p.Asp94Asn	LDLR	1	SNV	Missense	Likely Pathogenic	27932355	Exon 3		No
LDLR_0338	c.281A>G	p.Asp94Gly	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 3		No
LDLR_0340	c.283T>G	p.Cys95Gly	LDLR	24	SNV	Missense	Likely Pathogenic	10206683, 15241806, 16596945, Show More >>	Exon 3	Xanthomas, coronary artery disease	Yes
LDLR_0339	c.283T>A	p.Cys95Ser	LDLR	1	SNV	Missense	Likely Pathogenic	11139254	Exon 3		Yes
LDLR_0342	c.284G>T	p.Cys95Phe	LDLR	13	SNV	Missense	Likely Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 3		Yes
LDLR_0343	c.284G>C	p.Cys95Ser	LDLR	1	SNV	Missense	Likely Pathogenic	28235710	Exon 3		Yes
LDLR_0341	c.284G>A	p.Cys95Tyr	LDLR	5	SNV	Missense	Likely Pathogenic	18096825, 23375686, 28502510	Exon 3	Xanthomas	Yes
LDLR_0345	c.285C>A	p.Cys95*	LDLR	14	SNV	Nonsense	Pathogenic	31491741, 32331935, 32759540, Show More >>	Exon 3		Yes
LDLR_0344	c.285C>G	p.Cys95Trp	LDLR	3	SNV	Missense	Likely Pathogenic	28734274, 30400955, 32829317	Exon 3		Yes
LDLR_0346	c.289A>C	p.Asn97His	LDLR	1	SNV	Missense	Uncertain Significance	29057618	Exon 3		Yes
LDLR_0348	c.291C>T	p.Asn97=	LDLR	1	SNV	Silent	Uncertain Significance	15998910	Exon 3		Yes
LDLR_0347	c.291C>G	p.Asn97Lys	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 3		Yes
LDLR_0349	c.292G>A	p.Gly98Ser	LDLR	7	SNV	Missense	Likely Pathogenic	16250003, 27919364, 28645073, Show More >>	Exon 3	Stroke, Xanthomas	Yes
LDLR_0350	c.292G>C	p.Gly98Arg	LDLR	1	SNV	Missense	Likely Pathogenic	17765246	Exon 3		Yes
LDLR_0351	c.296C>G	p.Ser99*	LDLR	249	SNV	Nonsense	Pathogenic	10357843, 10947889, 11195242, Show More >>	Exon 3		Yes
LDLR_0352	c.298G>A	p.Asp100Asn	LDLR	8	SNV	Missense	Likely Pathogenic	25936346, 26875521, 30017729, Show More >>	Exon 3	Corneal arcus, xanthomas, angina, coronary artery disease, peripheral vascular disease, Xanthomas	Yes
LDLR_0354	c.299A>T	p.Asp100Val	LDLR	6	SNV	Missense	Likely Pathogenic	11381031, 27765764, 28964736, Show More >>	Exon 3		Yes
LDLR_0353	c.299A>G	p.Asp100Gly	LDLR	1	SNV	Missense	Likely Pathogenic	11810272	Exon 3		Yes
LDLR_0355	c.300C>G	p.Asp100Glu	LDLR	2	SNV	Missense	Likely Pathogenic	26361156	Exon 3		Yes
LDLR_0356	c.300C>A	p.Asp100Glu	LDLR	1	SNV	Missense	Likely Pathogenic	28379029	Exon 3		Yes
LDLR_0357	c.300C>T	p.Asp100=	LDLR	1	SNV	Silent	Uncertain Significance	22881376	Exon 3		Yes
LDLR_0359	c.301G>A	p.Glu101Lys	LDLR	149	SNV	Missense	Pathogenic	10208479, 10559517, 11313767, Show More >>	Exon 3	Corneal arcus, Corneal arcus, xanthomas, Xanthomas	Yes
LDLR_0360	c.301G>T	p.Glu101*	LDLR	7	SNV	Nonsense	Pathogenic	10978268, 11810272, 12436241, Show More >>	Exon 3	Xanthomas	Yes
LDLR_0358	c.301del	p.Glu101Serfs*105	LDLR	3	Deletion	Frameshift	Pathogenic	9259195	Exon 3		Yes
LDLR_0362	c.302A>G	p.Glu101Gly	LDLR	2	SNV	Missense	Likely Pathogenic	27365335, 37119068	Exon 3		Yes
LDLR_0361	c.302A>T	p.Glu101Val	LDLR	1	SNV	Missense	Likely Pathogenic	30400955	Exon 3		No
LDLR_0363	c.303del	p.Glu101Aspfs*105	LDLR	1	Deletion	Frameshift	Pathogenic	17094996	Exon 3		Yes
LDLR_0364	c.304C>T	p.Gln102*	LDLR	34	SNV	Nonsense	Pathogenic	10978268, 17196209, 18096825, Show More >>	Exon 3		Yes
LDLR_0365	c.305A>C	p.Gln102Pro	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 3		Yes
LDLR_0366	c.310T>C	p.Cys104Arg	LDLR	7	SNV	Missense	Likely Pathogenic	20809525, 21376320, 28502495, Show More >>	Exon 3		Yes
LDLR_0367	c.310_312del	p.Cys104del	LDLR	3	Deletion	Deletion	Likely Pathogenic	28758710, 31491741	Exon 3		No
LDLR_0368	c.310_313del	p.Cys104Profs*101	LDLR	2	Deletion	Frameshift	Pathogenic	26020417	Exon 3		No
LDLR_0369	c.311G>A	p.Cys104Tyr	LDLR	2	SNV	Missense	Likely Pathogenic	15359125, 22883975	Exon 3		Yes
LDLR_0370	c.311G>T	p.Cys104Phe	LDLR	2	SNV	Missense	Likely Pathogenic	15998910, 16159606	Exon 3		Yes
LDLR_0371	c.312T>G	p.Cys104Trp	LDLR	1	SNV	Missense	Likely Pathogenic	11313767	Exon 3		Yes
LDLR_0372	c.313C>T	p.Pro105Ser	LDLR	32	SNV	Missense	Likely Pathogenic	26345093, 9137885	Exon 3		Yes
LDLR_0373	c.313_313+1del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	22883975	Exon 3		Yes
LDLR_0376	c.313+1G>T	Intronic	LDLR	5	SNV	Splice donor	Pathogenic	10532689, 16159606, 34011801, Show More >>	Intron 3	Xanthomas	Yes
LDLR_0375	c.313+1dup	Intronic	LDLR	1	Duplication	Splice donor	Pathogenic	10090484	Intron 3		Yes
LDLR_0374	c.313+1G>C	Intronic	LDLR	681	SNV	Splice donor	Pathogenic	10206683, 10208484, 10790219, Show More >>	Intron 3		Yes
LDLR_0377	c.313+1G>A	Intronic	LDLR	1274	SNV	Splice donor	Pathogenic	10208484, 10441197, 10532689, Show More >>	Intron 3	Angina, Corneal arcus, xanthomas, Corneal arcus, xanthomas, coronary artery dise Show More >>	Yes
LDLR_0378	c.313+1_313+2dup	Intronic	LDLR	1	Duplication	Splice donor	Likely Pathogenic	22683370	Intron 3		Yes
LDLR_0382	c.313+2T>C	Intronic	LDLR	262	SNV	Splice donor	Pathogenic	11810272, 12436241, 14974088, Show More >>	Intron 3		Yes
LDLR_0381	c.313+2T>A	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	12436241	Intron 3		Yes
LDLR_0379	c.313+2T>G	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	28458923	Intron 3		No
LDLR_0380	c.313+2dup	Intronic	LDLR	30	Duplication	Splice donor	Pathogenic	21990180, 27578128, 27784735, Show More >>	Intron 3	Xanthelasmas, xanthomas, angina, cardiovascular disease, coronary artery disease, myocardial infarction	Yes
LDLR_0383	c.313+3A>C	Intronic	LDLR	19	SNV	Splice region	Likely Pathogenic	34428338, 35910211	Intron 3		Yes
LDLR_0384	c.313+3_313+4insT	Intronic	LDLR	2	Insertion	Splice region	Uncertain Significance	28235710, 33994402	Intron 3	Cardiovascular disease	No
LDLR_0385	c.313+4A>C	Intronic	LDLR	1	SNV	Splice region	Uncertain Significance	39535057	Intron 3		No
LDLR_0386	c.313+4_313+16del	Intronic	LDLR	2	Deletion	Splice region	Likely Pathogenic	28965616, 33890476	Intron 3		Yes
LDLR_0388	c.313+5G>A	Intronic	LDLR	9	SNV	Splice region	Likely Pathogenic	11317362, 17094996, 23375686, Show More >>	Intron 3	Coronary artery disease	Yes
LDLR_0387	c.313+5G>T	Intronic	LDLR	6	SNV	Splice region	Likely Pathogenic	16806138, 26802169	Intron 3	Xanthomas, coronary artery disease, myocardial infarction	Yes
LDLR_0389	c.313+6T>C	Intronic	LDLR	2	SNV	Splice region	Likely Pathogenic	17765246, 38122934	Intron 3		Yes
LDLR_0390	c.313+69C>T	Intronic	LDLR	3	SNV	Intronic	Uncertain Significance	20145306	Intron 3		Yes
LDLR_0391	c.313+70G>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	28734274	Intron 3		No
LDLR_0392	c.313+207G>A	Intronic	LDLR	1	SNV	Intronic	Likely Benign	12436241	Intron 3		No
LDLR_0393	c.313+277C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	33601267	Intron 3		No
LDLR_0394	c.314-50T>C	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 3		Yes
LDLR_0395	c.314-3C>T	Intronic	LDLR	3	SNV	Splice region	Likely Pathogenic	16250003, 16792510, 21382890	Intron 3		Yes
LDLR_0396	c.314-2A>C	Intronic	LDLR	7	SNV	Splice acceptor	Pathogenic	15576851, 27765764, 32220565	Intron 3		Yes
LDLR_0397	c.314-2A>G	Intronic	LDLR	4	SNV	Splice acceptor	Pathogenic	27824480	Intron 3		Yes
LDLR_0398	c.314-1G>A	Intronic	LDLR	7	SNV	Splice acceptor	Pathogenic	19208450, 21382890, 22294733, Show More >>	Intron 3		Yes
LDLR_0399	c.314C>T	p.Pro105Leu	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 4		Yes
LDLR_0400	c.316_336del	p.Pro106_Asp112del	LDLR	4	Deletion	Deletion	Likely Pathogenic	20809525	Exon 4		No
LDLR_0401	c.318dup	p.Lys107Glnfs*23	LDLR	5	Duplication	Frameshift	Pathogenic	11524740, 22698793	Exon 4		No
LDLR_0402	c.319_320insC	p.Lys107Thrfs*23	LDLR	1	Insertion	Frameshift	Pathogenic	34456200	Exon 4		No
LDLR_0404	c.320dup	p.Thr108Aspfs*22	LDLR	2	Duplication	Frameshift	Pathogenic	10559517, 16159606	Exon 4		No
LDLR_0403	c.320del	p.Lys107Argfs*99	LDLR	1	Deletion	Frameshift	Pathogenic	34456200	Exon 4		No
LDLR_0405	c.320_332del	p.Lys107Argfs*95	LDLR	4	Deletion	Frameshift	Pathogenic	16250003, 28965616, 33269076, Show More >>	Exon 4		No
LDLR_0406	c.322dup	p.Thr108Asnfs*22	LDLR	1	Duplication	Frameshift	Pathogenic	10559517	Exon 4		No
LDLR_0407	c.323dup	p.Cys109Valfs*21	LDLR	1	Duplication	Frameshift	Pathogenic	7573037	Exon 4		No
LDLR_0408	c.323C>T	p.Thr108Met	LDLR	2	SNV	Missense	Uncertain Significance	11139254, 31947532	Exon 4		Yes
LDLR_0409	c.324del	p.Cys109Alafs*97	LDLR	1	Deletion	Frameshift	Pathogenic	7573037	Exon 4		No
LDLR_0410	c.324_325delinsTC	p.Cys109Arg	LDLR	4	Delins	Missense	Pathogenic	11313767, 20145306, 35741760	Exon 4		Yes
LDLR_0412	c.325T>G	p.Cys109Gly	LDLR	1	SNV	Missense	Likely Pathogenic	33269076	Exon 4		Yes
LDLR_0411	c.325T>A	p.Cys109Ser	LDLR	1	SNV	Missense	Likely Pathogenic	32044282	Exon 4		No
LDLR_0413	c.325T>C	p.Cys109Arg	LDLR	15	SNV	Missense	Pathogenic	11139254, 1301956, 14974088, Show More >>	Exon 4	Xanthomas, peripheral vascular disease	Yes
LDLR_0414	c.325_337del	p.Cys109Serfs*93	LDLR	2	Deletion	Frameshift	Pathogenic	25962062, 7573037	Exon 4		No
LDLR_0416	c.326G>T	p.Cys109Phe	LDLR	1	SNV	Missense	Likely Pathogenic	17765246	Exon 4		Yes
LDLR_0417	c.326G>A	p.Cys109Tyr	LDLR	15	SNV	Missense	Likely Pathogenic	11313767, 17094996, 18239150, Show More >>	Exon 4	Cardiovascular disease, Coronary artery disease, Valvular heart disease	Yes
LDLR_0415	c.326G>C	p.Cys109Ser	LDLR	1	SNV	Missense	Likely Pathogenic	19446849	Exon 4		Yes
LDLR_0418	c.327C>G	p.Cys109Trp	LDLR	2	SNV	Missense	Likely Pathogenic	28964736, 30312929	Exon 4		No
LDLR_0419	c.327dup	p.Ser110Leufs*20	LDLR	1	Duplication	Frameshift	Pathogenic	12227864	Exon 4		Yes
LDLR_0420	c.327C>A	p.Cys109*	LDLR	3	SNV	Nonsense	Pathogenic	27932355, 32759540	Exon 4		Yes
LDLR_0422	c.332A>C	p.Gln111Pro	LDLR	1	SNV	Missense	Uncertain Significance	39535057	Exon 4		No
LDLR_0421	c.332A>G	p.Gln111Arg	LDLR	3	SNV	Missense	Uncertain Significance	27206942, 31491741, 32331935	Exon 4	Xanthomas	No
LDLR_0423	c.335del	p.Asp112Alafs*94	LDLR	1	Deletion	Frameshift	Pathogenic	10532689	Exon 4		No
LDLR_0424	c.336_339dup	p.Phe114Argfs*17	LDLR	3	Duplication	Frameshift	Pathogenic	35249492	Exon 4		No
LDLR_0425	c.336_345del	p.Glu113Alafs*90	LDLR	2	Deletion	Frameshift	Pathogenic	7586640	Exon 4		No
LDLR_0426	c.337G>A	p.Glu113Lys	LDLR	10	SNV	Missense	Likely Pathogenic	10807540, 16250003, 36299643	Exon 4	Xanthomas, coronary artery disease, cabg, myocardial infarction, peripheral vascular disease	Yes
LDLR_0428	c.337dup	p.Glu113Glyfs*17	LDLR	7	Duplication	Frameshift	Pathogenic	31617323	Exon 4	Xanthomas	Yes
LDLR_0427	c.337G>T	p.Glu113*	LDLR	29	SNV	Nonsense	Pathogenic	10066037, 10532689, 11139254, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0429	c.338del	p.Glu113Glyfs*93	LDLR	1	Deletion	Frameshift	Pathogenic	28502495	Exon 4		No
LDLR_0430	c.338_353del	p.Glu113Valfs*88	LDLR	3	Deletion	Frameshift	Pathogenic	15241806	Exon 4		Yes
LDLR_0431	c.339dup	p.Phe114Valfs*16	LDLR	4	Duplication	Frameshift	Pathogenic	16314194	Exon 4		Yes
LDLR_0432	c.340T>A	p.Phe114Ile	LDLR	1	SNV	Missense	Uncertain Significance	28964736	Exon 4		Yes
LDLR_0433	c.340_344del	p.Phe114Leufs*14	LDLR	2	Deletion	Frameshift	Pathogenic	27596133, 32829317	Exon 4		No
LDLR_0434	c.343C>T	p.Arg115Cys	LDLR	5	SNV	Missense	Likely Pathogenic	16250003, 30270359, 33418990, Show More >>	Exon 4		Yes
LDLR_0435	c.344G>A	p.Arg115His	LDLR	59	SNV	Missense	Likely Pathogenic	34176852, 11005141, 12417285, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0436	c.346T>C	p.Cys116Arg	LDLR	45	SNV	Missense	Pathogenic	10206683, 10634824, 10978268, Show More >>	Exon 4		Yes
LDLR_0439	c.347G>A	p.Cys116Tyr	LDLR	2	SNV	Missense	Likely Pathogenic	30312929, 33418990	Exon 4		Yes
LDLR_0437	c.347G>C	p.Cys116Ser	LDLR	2	SNV	Missense	Likely Pathogenic	31993549, 37119068	Exon 4		No
LDLR_0438	c.347G>T	p.Cys116Phe	LDLR	1	SNV	Missense	Likely Pathogenic	11851376	Exon 4		Yes
LDLR_0440	c.347_349del	p.Cys116_His117delinsTyr	LDLR	1	Deletion	Deletion	Uncertain Significance	9889019	Exon 4		Yes
LDLR_0441	c.347_367del	p.Cys116_Ile122del	LDLR	1	Deletion	Deletion	Uncertain Significance	22698793	Exon 4		No
LDLR_0442	c.349C>T	p.His117Tyr	LDLR	1	SNV	Missense	Uncertain Significance	10066037	Exon 4		Yes
LDLR_0443	c.350_372dup	p.Gln125Thrfs*89	LDLR	1	Duplication	Frameshift	Pathogenic	20809525	Exon 4		Yes
LDLR_0444	c.351_352insTTCC	p.Asp118Phefs*13	LDLR	1	Insertion	Frameshift	Pathogenic	33418990	Exon 4		No
LDLR_0445	c.352G>T	p.Asp118Tyr	LDLR	37	SNV	Missense	Likely Pathogenic	10978268, 11317362, 16343504, Show More >>	Exon 4	Myocardial infarction, Xanthomas, coronary artery disease	Yes
LDLR_0446	c.353del	p.Asp118Valfs*88	LDLR	2	Deletion	Frameshift	Pathogenic	10208479, 11313767	Exon 4		Yes
LDLR_0447	c.354_356del	p.Asp118_Gly119delinsGlu	LDLR	1	Deletion	Deletion	Uncertain Significance	16389549	Exon 4		Yes
LDLR_0448	c.355_356insTTCC	p.Gly119Valfs*12	LDLR	2	Insertion	Frameshift	Pathogenic	32423031, 33418990	Exon 4	Coronary artery disease, myocardial infarction	No
LDLR_0449	c.356_362del	p.Gly119Alafs*85	LDLR	1	Deletion	Frameshift	Pathogenic	10447263	Exon 4		No
LDLR_0450	c.357del	p.Lys120Serfs*86	LDLR	8	Deletion	Frameshift	Pathogenic	20809525, 30108616	Exon 4		No
LDLR_0452	c.361T>C	p.Cys121Arg	LDLR	2	SNV	Missense	Likely Pathogenic	29502162, 34176852	Exon 4	Xanthomas, cardiovascular disease, myocardial infarction	Yes
LDLR_0453	c.361T>A	p.Cys121Ser	LDLR	1	SNV	Missense	Likely Pathogenic	23669246	Exon 4		Yes
LDLR_0451	c.361T>G	p.Cys121Gly	LDLR	4	SNV	Missense	Likely Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 4		Yes
LDLR_0454	c.362G>T	p.Cys121Phe	LDLR	2	SNV	Missense	Likely Pathogenic	19446849, 23375686	Exon 4		Yes
LDLR_0455	c.362G>A	p.Cys121Tyr	LDLR	7	SNV	Missense	Likely Pathogenic	16465405, 18096825, 20809525, Show More >>	Exon 4		Yes
LDLR_0456	c.362G>C	p.Cys121Ser	LDLR	2	SNV	Missense	Likely Pathogenic	28104544	Exon 4		Yes
LDLR_0457	c.362_376del	p.Cys121_Gln125del	LDLR	1	Deletion	Deletion	Uncertain Significance	28475941	Exon 4		No
LDLR_0458	c.363C>A	p.Cys121*	LDLR	2	SNV	Nonsense	Pathogenic	28965616, 33890476	Exon 4		No
LDLR_0459	c.364A>T	p.Ile122Phe	LDLR	2	SNV	Missense	Likely Pathogenic	35560019, 9763532	Exon 4		Yes
LDLR_0460	c.366dup	p.Ser123Leufs*7	LDLR	1	Duplication	Frameshift	Pathogenic	23375686	Exon 4		Yes
LDLR_0462	c.367T>A	p.Ser123Thr	LDLR	2	SNV	Missense	Uncertain Significance	15015036	Exon 4		Yes
LDLR_0463	c.367del	p.Ser123Leufs*83	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 4		No
LDLR_0461	c.367T>C	p.Ser123Pro	LDLR	7	SNV	Missense	Uncertain Significance	19446849, 20045108, 21865347, Show More >>	Exon 4		Yes
LDLR_0464	c.367_631del	p.Ser123Thrfs*54	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 4		No
LDLR_0465	c.368del	p.Ser123Phefs*83	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 4		No
LDLR_0466	c.369_370del	p.Arg124Alafs*5	LDLR	4	Deletion	Frameshift	Pathogenic	10422804, 11845603, 22698793, Show More >>	Exon 4		No
LDLR_0467	c.369_393del	p.Arg124Glyfs*74	LDLR	1	Deletion	Frameshift	Pathogenic	17765246	Exon 4		No
LDLR_0469	c.370C>G	p.Arg124Gly	LDLR	1	SNV	Missense	Uncertain Significance	11810272	Exon 4		Yes
LDLR_0468	c.370C>T	p.Arg124Trp	LDLR	1	SNV	Missense	Uncertain Significance	10611909	Exon 4		Yes
LDLR_0470	c.370dup	p.Arg124Profs*6	LDLR	1	Duplication	Frameshift	Pathogenic	21310417	Exon 4		Yes
LDLR_0471	c.371_372insC	p.Gln125Alafs*5	LDLR	2	Insertion	Frameshift	Pathogenic	11668627, 15576851	Exon 4		Yes
LDLR_0472	c.372del	p.Gln125Serfs*81	LDLR	1	Deletion	Frameshift	Pathogenic	17426749	Exon 4		No
LDLR_0473	c.373C>A	p.Gln125Lys	LDLR	1	SNV	Missense	Uncertain Significance	22883975	Exon 4		Yes
LDLR_0474	c.373C>T	p.Gln125*	LDLR	19	SNV	Nonsense	Pathogenic	10978268, 11845603, 16343504, Show More >>	Exon 4	Xanthomas, coronary artery disease	Yes
LDLR_0475	c.373_379del	p.Gln125Serfs*79	LDLR	2	Deletion	Frameshift	Pathogenic	35741760	Exon 4		No
LDLR_0476	c.375_381del	p.Gln125Hisfs*79	LDLR	1	Deletion	Frameshift	Pathogenic	17426749	Exon 4		No
LDLR_0477	c.376T>C	p.Phe126Leu	LDLR	1	SNV	Missense	Uncertain Significance	15199436	Exon 4		Yes
LDLR_0479	c.377T>C	p.Phe126Ser	LDLR	3	SNV	Missense	Uncertain Significance	10428988, 11297603, 11398137	Exon 4		Yes
LDLR_0478	c.377T>A	p.Phe126Tyr	LDLR	1	SNV	Missense	Uncertain Significance	15015036	Exon 4		Yes
LDLR_0481	c.378C>A	p.Phe126Leu	LDLR	1	SNV	Missense	Uncertain Significance	35047021	Exon 4		Yes
LDLR_0480	c.378del	p.Phe126Leufs*80	LDLR	1	Deletion	Frameshift	Pathogenic	37967952	Exon 4		Yes
LDLR_0482	c.380T>A	p.Val127Asp	LDLR	1	SNV	Missense	Uncertain Significance	26892515	Exon 4		Yes
LDLR_0483	c.382T>C	p.Cys128Arg	LDLR	3	SNV	Missense	Uncertain Significance	12436241, 20809525, 28964736	Exon 4		Yes
LDLR_0486	c.383G>C	p.Cys128Ser	LDLR	1	SNV	Missense	Uncertain Significance	28379029	Exon 4		Yes
LDLR_0484	c.383G>T	p.Cys128Phe	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 4		Yes
LDLR_0485	c.383G>A	p.Cys128Tyr	LDLR	1	SNV	Missense	Uncertain Significance	17964958	Exon 4		Yes
LDLR_0487	c.385G>T	p.Asp129Tyr	LDLR	1	SNV	Missense	Uncertain Significance	26608663	Exon 4		No
LDLR_0489	c.386A>G	p.Asp129Gly	LDLR	2	SNV	Missense	Uncertain Significance	17445538	Exon 4		Yes
LDLR_0488	c.386A>C	p.Asp129Ala	LDLR	2	SNV	Missense	Uncertain Significance	35626767	Exon 4		Yes
LDLR_0491	c.388T>A	p.Ser130Thr	LDLR	2	SNV	Missense	Uncertain Significance	34176852, 12417285, 20006333, Show More >>	Exon 4		Yes
LDLR_0490	c.388T>C	p.Ser130Pro	LDLR	3	SNV	Missense	Uncertain Significance	11524740, 22698793	Exon 4		Yes
LDLR_0493	c.389C>A	p.Ser130*	LDLR	1	SNV	Nonsense	Pathogenic	29213121	Exon 4		No
LDLR_0492	c.389C>G	p.Ser130*	LDLR	1	SNV	Nonsense	Pathogenic	29213121	Exon 4	Xanthomas	Yes
LDLR_0494	c.389dup	p.Asp131Argfs*49	LDLR	19	Duplication	Frameshift	Pathogenic	34176852, 12417285, 18718593, Show More >>	Exon 4		Yes
LDLR_0495	c.391G>C	p.Asp131His	LDLR	1	SNV	Missense	Likely Pathogenic	23375686	Exon 4		Yes
LDLR_0496	c.392A>G	p.Asp131Gly	LDLR	1	SNV	Missense	Likely Pathogenic	25647241	Exon 4		Yes
LDLR_0498	c.394del	p.Arg132Glyfs*74	LDLR	1	Deletion	Frameshift	Pathogenic	30400955	Exon 4		No
LDLR_0497	c.394C>T	p.Arg132Trp	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 4		Yes
LDLR_0499	c.394_397delinsGA	p.Arg132Glufs*47	LDLR	1	Delins	Frameshift	Pathogenic	30400955	Exon 4		No
LDLR_0500	c.394_417del	p.Arg132_Asp139del	LDLR	4	Deletion	Deletion	Likely Pathogenic	21925044	Exon 4		No
LDLR_0501	c.395G>A	p.Arg132Gln	LDLR	5	SNV	Missense	Uncertain Significance	29399563, 31491741, 32331935, Show More >>	Exon 4		Yes
LDLR_0504	c.397dup	p.Asp133Glyfs*47	LDLR	1	Duplication	Frameshift	Pathogenic	12124988	Exon 4		No
LDLR_0502	c.397G>A	p.Asp133Asn	LDLR	3	SNV	Missense	Uncertain Significance	17094996, 27006714, 34182004	Exon 4	Coronary artery disease, peripheral vascular disease, valvular heart disease	Yes
LDLR_0503	c.397del	p.Asp133Thrfs*73	LDLR	1	Deletion	Frameshift	Pathogenic	12124988	Exon 4		No
LDLR_0505	c.400T>C	p.Cys134Arg	LDLR	21	SNV	Missense	Likely Pathogenic	10735632, 11462246, 11810272, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0507	c.401G>A	p.Cys134Tyr	LDLR	3	SNV	Missense	Likely Pathogenic	23375686, 23680767, 26081744	Exon 4	Cardiovascular disease	Yes
LDLR_0506	c.401G>T	p.Cys134Phe	LDLR	6	SNV	Missense	Likely Pathogenic	10978268, 11462246, 18718593, Show More >>	Exon 4		Yes
LDLR_0508	c.401G>C	p.Cys134Ser	LDLR	1	SNV	Missense	Likely Pathogenic	33269076	Exon 4		Yes
LDLR_0509	c.402C>G	p.Cys134Trp	LDLR	7	SNV	Missense	Likely Pathogenic	10978268, 15241806, 23375686	Exon 4		Yes
LDLR_0511	c.406G>T	p.Asp136Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	27824480	Exon 4		No
LDLR_0510	c.406G>A	p.Asp136Asn	LDLR	1	SNV	Missense	Likely Pathogenic	31491741	Exon 4		Yes
LDLR_0512	c.407A>T	p.Asp136Val	LDLR	7	SNV	Missense	Likely Pathogenic	20045108, 21865347, 23375686, Show More >>	Exon 4		Yes
LDLR_0513	c.408del	p.Asp136Glufs*70	LDLR	4	Deletion	Frameshift	Pathogenic	31491741, 32331935, 33533259	Exon 4		No
LDLR_0514	c.408C>T	p.Asp136=	LDLR	1	SNV	Silent	Uncertain Significance	26361156	Exon 4		Yes
LDLR_0516	c.409G>A	p.Gly137Ser	LDLR	2	SNV	Missense	Conflict	34407635	Exon 4		Yes
LDLR_0515	c.409G>T	p.Gly137Cys	LDLR	1	SNV	Missense	Likely Pathogenic	20145306	Exon 4		Yes
LDLR_0517	c.410G>T	p.Gly137Val	LDLR	1	SNV	Missense	Likely Pathogenic	25647241	Exon 4		Yes
LDLR_0518	c.413C>G	p.Ser138*	LDLR	11	SNV	Nonsense	Pathogenic	34176852, 20006333, 21146822, Show More >>	Exon 4		Yes
LDLR_0519	c.415G>A	p.Asp139Asn	LDLR	15	SNV	Missense	Likely Pathogenic	10634824, 10978268, 23375686, Show More >>	Exon 4		Yes
LDLR_0520	c.415G>C	p.Asp139His	LDLR	2	SNV	Missense	Likely Pathogenic	21418584, 28734274	Exon 4		Yes
LDLR_0522	c.416A>G	p.Asp139Gly	LDLR	3	SNV	Missense	Likely Pathogenic	20809525, 30270082	Exon 4		Yes
LDLR_0521	c.416A>T	p.Asp139Val	LDLR	3	SNV	Missense	Likely Pathogenic	20809525, 23375686	Exon 4		Yes
LDLR_0523	c.417C>G	p.Asp139Glu	LDLR	3	SNV	Missense	Likely Pathogenic	22883975, 24075752, 32911577	Exon 4		Yes
LDLR_0524	c.418G>T	p.Glu140*	LDLR	26	SNV	Nonsense	Pathogenic	10978268, 11737238, 12492446, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0525	c.418G>A	p.Glu140Lys	LDLR	88	SNV	Missense	Pathogenic	10532689, 11668627, 11668640, Show More >>	Exon 4	Corneal arcus, xanthomas, peripheral vascular disease, Corneal arcus, xanthomas, Show More >>	Yes
LDLR_0527	c.419A>C	p.Glu140Ala	LDLR	3	SNV	Missense	Likely Pathogenic	28104544	Exon 4		No
LDLR_0526	c.419A>G	p.Glu140Gly	LDLR	1	SNV	Missense	Likely Pathogenic	11810272	Exon 4		Yes
LDLR_0528	c.420G>C	p.Glu140Asp	LDLR	17	SNV	Missense	Likely Pathogenic	11524740, 17094996, 20145306, Show More >>	Exon 4	Xanthelasmas, coronary artery disease, myocardial infarction, peripheral vascular disease, valvular heart disease	Yes
LDLR_0529	c.424_430del	p.Ser142Argfs*62	LDLR	4	Deletion	Frameshift	Pathogenic	20045108, 21865347, 23375686, Show More >>	Exon 4		No
LDLR_0532	c.427T>C	p.Cys143Arg	LDLR	3	SNV	Missense	Likely Pathogenic	11462246, 20828696, 22698793	Exon 4		Yes
LDLR_0531	c.427T>A	p.Cys143Ser	LDLR	3	SNV	Missense	Likely Pathogenic	27765764, 28964736, 35560019	Exon 4		Yes
LDLR_0530	c.427T>G	p.Cys143Gly	LDLR	7	SNV	Missense	Likely Pathogenic	19026292, 20809525, 22883975	Exon 4		Yes
LDLR_0534	c.428G>T	p.Cys143Phe	LDLR	3	SNV	Missense	Likely Pathogenic	30270055, 31689621, 32897268	Exon 4		Yes
LDLR_0533	c.428G>A	p.Cys143Tyr	LDLR	6	SNV	Missense	Likely Pathogenic	11295843, 14974088, 19073363, Show More >>	Exon 4	Corneal arcus, xanthomas, coronary artery disease	Yes
LDLR_0535	c.428G>C	p.Cys143Ser	LDLR	1	SNV	Missense	Likely Pathogenic	37568561	Exon 4		Yes
LDLR_0537	c.429C>A	p.Cys143*	LDLR	139	SNV	Nonsense	Pathogenic	10208484, 10532689, 11257257, Show More >>	Exon 4	Corneal arcus, xanthomas, Xanthomas, Xanthomas, cardiovascular disease	Yes
LDLR_0536	c.429C>G	p.Cys143Trp	LDLR	1	SNV	Missense	Likely Pathogenic	15241806	Exon 4		No
LDLR_0538	c.431_434dup	p.Leu146Glyfs*35	LDLR	1	Duplication	Frameshift	Pathogenic	23375686	Exon 4		Yes
LDLR_0539	c.432_433insA	p.Val145Serfs*35	LDLR	1	Insertion	Frameshift	Pathogenic	37623486	Exon 4		No
LDLR_0540	c.434T>C	p.Val145Ala	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 4		Yes
LDLR_0541	c.434_435dup	p.Leu146Cysfs*61	LDLR	1	Duplication	Frameshift	Pathogenic	23375686	Exon 4		No
LDLR_0542	c.435_457del	p.Leu146Profs*26	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 4		No
LDLR_0543	c.439del	p.Thr147Profs*59	LDLR	1	Deletion	Frameshift	Pathogenic	37128917	Exon 4		No
LDLR_0544	c.440C>T	p.Thr147Ile	LDLR	5	SNV	Missense	Likely Pathogenic	21865347, 34297352	Exon 4		Yes
LDLR_0545	c.440_450dup	p.Ala151Profs*59	LDLR	1	Duplication	Frameshift	Pathogenic	28475941	Exon 4		Yes
LDLR_0547	c.442T>G	p.Cys148Gly	LDLR	1	SNV	Missense	Likely Pathogenic	26875521	Exon 4		No
LDLR_0546	c.442T>C	p.Cys148Arg	LDLR	1	SNV	Missense	Likely Pathogenic	15241806	Exon 4		Yes
LDLR_0548	c.442_504del	p.Cys148_Asp168del	LDLR	1	Deletion	Deletion	Uncertain Significance	19118540	Exon 4		No
LDLR_0550	c.443G>C	p.Cys148Ser	LDLR	33	SNV	Missense	Pathogenic	12414836, 20144596, 22417841	Exon 4	Xanthomas, coronary artery disease	Yes
LDLR_0549	c.443G>A	p.Cys148Tyr	LDLR	4	SNV	Missense	Uncertain Significance	11462246, 16250003, 16389549, Show More >>	Exon 4		Yes
LDLR_0551	c.444T>G	p.Cys148Trp	LDLR	2	SNV	Missense	Likely Pathogenic	30827231, 9538514	Exon 4		Yes
LDLR_0552	c.445G>T	p.Gly149Cys	LDLR	1	SNV	Missense	Uncertain Significance	22698793	Exon 4		Yes
LDLR_0553	c.447T>C	p.Gly149=	LDLR	1	SNV	Silent	Uncertain Significance	15701167	Exon 4		Yes
LDLR_0554	c.449C>G	p.Pro150Arg	LDLR	1	SNV	Missense	Uncertain Significance	33367195	Exon 4		No
LDLR_0555	c.450dup	p.Ala151Argfs*29	LDLR	1	Duplication	Frameshift	Pathogenic	20809525	Exon 4		No
LDLR_0557	c.451G>C	p.Ala151Pro	LDLR	1	SNV	Missense	Uncertain Significance	15701167	Exon 4		Yes
LDLR_0558	c.451del	p.Ala151Profs*55	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 4		No
LDLR_0556	c.451G>A	p.Ala151Thr	LDLR	2	SNV	Missense	Uncertain Significance	16250003, 16792510	Exon 4		Yes
LDLR_0559	c.451_453del	p.Ala151del	LDLR	3	Deletion	Deletion	Likely Pathogenic	15241806, 27578128, 27784735	Exon 4		No
LDLR_0560	c.455del	p.Ser152Thrfs*54	LDLR	1	Deletion	Frameshift	Pathogenic	27596133	Exon 4		No
LDLR_0561	c.457T>G	p.Phe153Val	LDLR	2	SNV	Missense	Uncertain Significance	17347910	Exon 4		Yes
LDLR_0562	c.457_465del	p.Phe153_Cys155del	LDLR	4	Deletion	Deletion	Likely Pathogenic	33794673	Exon 4		No
LDLR_0563	c.458T>G	p.Phe153Cys	LDLR	1	SNV	Missense	Uncertain Significance	15199436	Exon 4		Yes
LDLR_0564	c.458T>C	p.Phe153Ser	LDLR	5	SNV	Missense	Uncertain Significance	31491741, 32331935, 33533259, Show More >>	Exon 4		No
LDLR_0565	c.460C>T	p.Gln154*	LDLR	210	SNV	Nonsense	Pathogenic	10206683, 10208484, 10790219, Show More >>	Exon 4	Coronary artery disease	Yes
LDLR_0566	c.460del	p.Gln154Serfs*52	LDLR	1	Deletion	Frameshift	Likely Pathogenic	30217213	Exon 4		No
LDLR_0567	c.463T>C	p.Cys155Arg	LDLR	4	SNV	Missense	Likely Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 4		Yes
LDLR_0568	c.463T>G	p.Cys155Gly	LDLR	11	SNV	Missense	Likely Pathogenic	10735632, 11810272, 1301956, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0569	c.464G>T	p.Cys155Phe	LDLR	1	SNV	Missense	Likely Pathogenic	21382890	Exon 4		Yes
LDLR_0570	c.464G>A	p.Cys155Tyr	LDLR	2	SNV	Missense	Likely Pathogenic	18096825, 20809525	Exon 4		Yes
LDLR_0571	c.465C>A	p.Cys155*	LDLR	26	SNV	Nonsense	Pathogenic	10947889, 11317362, 23375686, Show More >>	Exon 4		Yes
LDLR_0572	c.472del	p.Ser158Profs*48	LDLR	2	Deletion	Frameshift	Pathogenic	11524740, 22698793	Exon 4		Yes
LDLR_0573	c.473C>G	p.Ser158Cys	LDLR	1	SNV	Missense	Uncertain Significance	20828696	Exon 4		Yes
LDLR_0574	c.476C>T	p.Thr159Ile	LDLR	1	SNV	Missense	Uncertain Significance	20145306	Exon 4		Yes
LDLR_0576	c.478T>G	p.Cys160Gly	LDLR	9	SNV	Missense	Likely Pathogenic	33418990, 9538514	Exon 4		Yes
LDLR_0575	c.478T>C	p.Cys160Arg	LDLR	20	SNV	Missense	Likely Pathogenic	34176852, 12417285, 12436241, Show More >>	Exon 4		Yes
LDLR_0578	c.479G>T	p.Cys160Phe	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 4		Yes
LDLR_0577	c.479G>A	p.Cys160Tyr	LDLR	2	SNV	Missense	Likely Pathogenic	25461735, 9259195	Exon 4		Yes
LDLR_0580	c.482T>C	p.Ile161Thr	LDLR	4	SNV	Missense	Likely Pathogenic	26298359, 30827231, 36229885	Exon 4	Xanthomas, Xanthomas, angina, cardiovascular disease, coronary artery disease, myocardial infarction	Yes
LDLR_0579	c.482T>A	p.Ile161Asn	LDLR	1	SNV	Missense	Likely Pathogenic	34363016	Exon 4		Yes
LDLR_0581	c.482_488del	p.Ile161Serfs*43	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 4		No
LDLR_0582	c.485C>T	p.Pro162Leu	LDLR	3	SNV	Missense	Uncertain Significance	12436241, 28028493, 28235710	Exon 4		Yes
LDLR_0585	c.487dup	p.Gln163Profs*17	LDLR	1	Duplication	Frameshift	Pathogenic	26748104	Exon 4		No
LDLR_0583	c.487C>T	p.Gln163*	LDLR	2	SNV	Nonsense	Pathogenic	25461735, 35631530	Exon 4		Yes
LDLR_0584	c.487del	p.Gln163Serfs*43	LDLR	1	Deletion	Frameshift	Pathogenic	33626794	Exon 4		No
LDLR_0586	c.489G>T	p.Gln163His	LDLR	1	SNV	Missense	Uncertain Significance	37967952	Exon 4		No
LDLR_0587	c.491T>C	p.Leu164Pro	LDLR	3	SNV	Missense	Uncertain Significance	15823276, 29870584	Exon 4		Yes
LDLR_0588	c.493T>G	p.Trp165Gly	LDLR	2	SNV	Missense	Likely Pathogenic	23375686, 36226792	Exon 4	Coronary artery disease	Yes
LDLR_0590	c.494G>A	p.Trp165*	LDLR	1	SNV	Nonsense	Pathogenic	29292049	Exon 4		Yes
LDLR_0589	c.494G>C	p.Trp165Ser	LDLR	1	SNV	Missense	Uncertain Significance	34058195	Exon 4		No
LDLR_0591	c.495G>A	p.Trp165*	LDLR	8	SNV	Nonsense	Pathogenic	17935672, 19837725, 25014035, Show More >>	Exon 4	Xanthomas, coronary artery disease, peripheral vascular disease	Yes
LDLR_0592	c.496del	p.Ala166Profs*40	LDLR	1	Deletion	Frameshift	Pathogenic	37853441	Exon 4		No
LDLR_0594	c.496_497insGGATCCC	p.Ala166Glyfs*16	LDLR	1	Insertion	Frameshift	Pathogenic	37853441	Exon 4		No
LDLR_0593	c.496_497insGGATCCCCCAGCTGCATCCC	p.Ala166Glyfs*47	LDLR	1	Insertion	Frameshift	Pathogenic	37853441	Exon 4		No
LDLR_0596	c.497delinsGGATCCCCCAGCTGCATCCCCCAG	p.Ala166Glyfs*48	LDLR	2	Delins	Frameshift	Pathogenic	37853441	Exon 4	Corneal arcus, xanthomas	No
LDLR_0595	c.497delinsGGA	p.Ala166Glyfs*41	LDLR	1	Delins	Frameshift	Pathogenic	37853441	Exon 4		No
LDLR_0597	c.498C>T	p.Ala166=	LDLR	5	SNV	Silent	Uncertain Significance	26345093	Exon 4		Yes
LDLR_0598	c.499T>C	p.Cys167Arg	LDLR	1	SNV	Missense	Uncertain Significance	28377633	Exon 4		Yes
LDLR_0599	c.500G>A	p.Cys167Tyr	LDLR	5	SNV	Missense	Uncertain Significance	11196104, 18718593, 31491741, Show More >>	Exon 4		Yes
LDLR_0600	c.500G>T	p.Cys167Phe	LDLR	1	SNV	Missense	Uncertain Significance	39114568	Exon 4		No
LDLR_0601	c.500_501delinsTA	p.Cys167Leu	LDLR	6	Delins	Missense	Uncertain Significance	33093846	Exon 4	Corneal arcus, xanthomas	No
LDLR_0603	c.501C>A	p.Cys167*	LDLR	58	SNV	Nonsense	Pathogenic	10208479, 10735632, 11313767, Show More >>	Exon 4	Corneal arcus, xanthomas, coronary artery disease, cabg, peripheral vascular dis Show More >>	Yes
LDLR_0602	c.501C>G	p.Cys167Trp	LDLR	5	SNV	Missense	Uncertain Significance	20809525, 28964736, 33794673	Exon 4		Yes
LDLR_0605	c.502G>A	p.Asp168Asn	LDLR	14	SNV	Missense	Likely Pathogenic	15556094, 16205024, 16389549, Show More >>	Exon 4		Yes
LDLR_0606	c.502G>C	p.Asp168His	LDLR	37	SNV	Missense	Pathogenic	16250003, 16466730, 20828696, Show More >>	Exon 4		Yes
LDLR_0604	c.502G>T	p.Asp168Tyr	LDLR	8	SNV	Missense	Likely Pathogenic	10947889, 8740918, 9104431	Exon 4		Yes
LDLR_0607	c.503A>G	p.Asp168Gly	LDLR	3	SNV	Missense	Likely Pathogenic	20145306, 26666465, 30592719	Exon 4		Yes
LDLR_0608	c.503A>C	p.Asp168Ala	LDLR	1	SNV	Missense	Likely Pathogenic	25461735	Exon 4		Yes
LDLR_0609	c.504C>A	p.Asp168Glu	LDLR	3	SNV	Missense	Likely Pathogenic	15823276, 27765764	Exon 4	Corneal arcus, xanthomas, coronary artery disease	Yes
LDLR_0610	c.505_511del	p.Asn169Profs*35	LDLR	1	Deletion	Frameshift	Pathogenic	35047021	Exon 4		No
LDLR_0611	c.506A>T	p.Asn169Ile	LDLR	1	SNV	Missense	Uncertain Significance	15556094	Exon 4		Yes
LDLR_0612	c.507C>T	p.Asn169=	LDLR	2	SNV	Silent	Uncertain Significance	15241806, 20145306	Exon 4		Yes
LDLR_0613	c.508G>A	p.Asp170Asn	LDLR	1	SNV	Missense	Uncertain Significance	28145427	Exon 4		Yes
LDLR_0614	c.508_509insC	p.Asp170Alafs*10	LDLR	1	Insertion	Frameshift	Pathogenic	15241806	Exon 4		Yes
LDLR_0615	c.509A>C	p.Asp170Ala	LDLR	1	SNV	Missense	Uncertain Significance	20030366	Exon 4		No
LDLR_0616	c.509dup	p.Asp170Glufs*10	LDLR	1	Duplication	Frameshift	Pathogenic	15241806	Exon 4		No
LDLR_0617	c.510C>A	p.Asp170Glu	LDLR	1	SNV	Missense	Uncertain Significance	27824480	Exon 4		Yes
LDLR_0619	c.513dup	p.Asp172Argfs*8	LDLR	1	Duplication	Frameshift	Pathogenic	21376320	Exon 4		No
LDLR_0618	c.513del	p.Asp172Thrfs*34	LDLR	15	Deletion	Frameshift	Pathogenic	19797716, 20538126, 21376320, Show More >>	Exon 4		No
LDLR_0620	c.514G>T	p.Asp172Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	20599862	Exon 4		Yes
LDLR_0622	c.514G>C	p.Asp172His	LDLR	9	SNV	Missense	Likely Pathogenic	10882754, 11845603, 27830735, Show More >>	Exon 4	Xanthomas, coronary artery disease, cabg	Yes
LDLR_0621	c.514G>A	p.Asp172Asn	LDLR	9	SNV	Missense	Pathogenic	10532689, 15241806, 16542394, Show More >>	Exon 4		Yes
LDLR_0623	c.515A>G	p.Asp172Gly	LDLR	2	SNV	Missense	Likely Pathogenic	20091938, 22698793	Exon 4		Yes
LDLR_0625	c.516C>G	p.Asp172Glu	LDLR	15	SNV	Missense	Likely Pathogenic	20538126, 21376320, 28502495, Show More >>	Exon 4		Yes
LDLR_0624	c.516C>A	p.Asp172Glu	LDLR	7	SNV	Missense	Likely Pathogenic	28028493, 28235710	Exon 4		No
LDLR_0626	c.516_524dup	p.Cys173_Asp175dup	LDLR	2	Duplication	In-frame duplication	Uncertain Significance	20809525	Exon 4		No
LDLR_0628	c.517T>C	p.Cys173Arg	LDLR	34	SNV	Missense	Pathogenic	11317361, 1301956, 19837725, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0627	c.517T>G	p.Cys173Gly	LDLR	2	SNV	Missense	Likely Pathogenic	20019594, 7489239	Exon 4		Yes
LDLR_0629	c.518del	p.Cys173Serfs*33	LDLR	43	Deletion	Frameshift	Pathogenic	10208484, 10790219, 11737238, Show More >>	Exon 4		Yes
LDLR_0631	c.518G>A	p.Cys173Tyr	LDLR	2	SNV	Missense	Uncertain Significance	23375686, 30312929	Exon 4		Yes
LDLR_0630	c.518G>C	p.Cys173Ser	LDLR	1	SNV	Missense	Likely Pathogenic	31106925	Exon 4		Yes
LDLR_0633	c.519C>A	p.Cys173*	LDLR	5	SNV	Nonsense	Pathogenic	10559517, 11668627, 15576851, Show More >>	Exon 4		Yes
LDLR_0632	c.519C>G	p.Cys173Trp	LDLR	29	SNV	Missense	Likely Pathogenic	10090484, 11462246, 11810272, Show More >>	Exon 4		Yes
LDLR_0636	c.520G>C	p.Glu174Gln	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 4		No
LDLR_0635	c.520G>A	p.Glu174Lys	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 4		Yes
LDLR_0634	c.520G>T	p.Glu174*	LDLR	1	SNV	Nonsense	Pathogenic	27765764	Exon 4		Yes
LDLR_0637	c.523G>A	p.Asp175Asn	LDLR	227	SNV	Missense	Pathogenic	10146335, 10422804, 10614803, Show More >>	Exon 4	Cardiovascular disease, valvular heart disease, Coronary artery disease, Coronar Show More >>	Yes
LDLR_0638	c.523G>T	p.Asp175Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	9104431	Exon 4		Yes
LDLR_0639	c.524A>G	p.Asp175Gly	LDLR	1	SNV	Missense	Likely Pathogenic	30400955	Exon 4		Yes
LDLR_0640	c.525_536del	p.Asp175_Asp178del	LDLR	1	Deletion	Deletion	Uncertain Significance	11196104	Exon 4		No
LDLR_0641	c.526_533dup	p.Asp178Glufs*31	LDLR	3	Duplication	Frameshift	Pathogenic	10090484, 20145306, 23375686	Exon 4		Yes
LDLR_0642	c.527G>T	p.Gly176Val	LDLR	8	SNV	Missense	Uncertain Significance	11524740, 11851376, 22698793	Exon 4		Yes
LDLR_0643	c.529T>C	p.Ser177Pro	LDLR	6	SNV	Missense	Likely Pathogenic	27824480, 28379029	Exon 4		Yes
LDLR_0645	c.530C>G	p.Ser177Trp	LDLR	1	SNV	Missense	Likely Pathogenic	34182004	Exon 4		Yes
LDLR_0644	c.530C>T	p.Ser177Leu	LDLR	177	SNV	Missense	Pathogenic	10206683, 10208479, 10790219, Show More >>	Exon 4	Corneal arcus, xanthomas, Corneal arcus, xanthomas, angina, coronary artery dise Show More >>	Yes
LDLR_0648	c.532G>C	p.Asp178His	LDLR	1	SNV	Missense	Likely Pathogenic	12436241	Exon 4		Yes
LDLR_0647	c.532G>A	p.Asp178Asn	LDLR	16	SNV	Missense	Likely Pathogenic	10657581, 29353225, 33093846, Show More >>	Exon 4	Corneal arcus, xanthomas	Yes
LDLR_0646	c.532G>T	p.Asp178Tyr	LDLR	4	SNV	Missense	Likely Pathogenic	16389549, 28873201	Exon 4		Yes
LDLR_0649	c.532_533insT	p.Asp178Valfs*2	LDLR	1	Insertion	Frameshift	Pathogenic	20019594	Exon 4		Yes
LDLR_0651	c.533A>G	p.Asp178Gly	LDLR	3	SNV	Missense	Likely Pathogenic	15241806, 30312929	Exon 4		Yes
LDLR_0650	c.533A>T	p.Asp178Val	LDLR	3	SNV	Missense	Likely Pathogenic	22883975, 24075752, 35631530	Exon 4		Yes
LDLR_0652	c.534T>A	p.Asp178Glu	LDLR	1	SNV	Missense	Likely Pathogenic	37808210	Exon 4		No
LDLR_0653	c.534T>G	p.Asp178Glu	LDLR	14	SNV	Missense	Likely Pathogenic	11196104, 17347910, 33418990, Show More >>	Exon 4		Yes
LDLR_0656	c.535G>A	p.Glu179Lys	LDLR	7	SNV	Missense	Likely Pathogenic	18279815, 23375686, 35795214	Exon 4	Xanthomas, coronary artery disease	Yes
LDLR_0655	c.535G>T	p.Glu179*	LDLR	2	SNV	Nonsense	Pathogenic	20809525, 28964736	Exon 4		Yes
LDLR_0654	c.535G>C	p.Glu179Gln	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 4		No
LDLR_0657	c.535_536delinsAT	p.Glu179Met	LDLR	2	Delins	Missense	Likely Pathogenic	38514665	Exon 4	Corneal arcus, xanthelasmas, xanthomas, coronary artery disease, cabg, myocardial infarction	Yes
LDLR_0658	c.536A>C	p.Glu179Ala	LDLR	5	SNV	Missense	Uncertain Significance	28502495, 33994402	Exon 4		Yes
LDLR_0659	c.536A>G	p.Glu179Gly	LDLR	1	SNV	Missense	Likely Pathogenic	15199436	Exon 4		Yes
LDLR_0660	c.539G>A	p.Trp180*	LDLR	7	SNV	Nonsense	Pathogenic	34176852, 20006333, 20809525, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0661	c.540G>A	p.Trp180*	LDLR	5	SNV	Nonsense	Pathogenic	27596133	Exon 4		No
LDLR_0662	c.542C>G	p.Pro181Arg	LDLR	17	SNV	Missense	Likely Pathogenic	11524740, 11600564, 11668640, Show More >>	Exon 4		Yes
LDLR_0663	c.542C>T	p.Pro181Leu	LDLR	2	SNV	Missense	Likely Pathogenic	25461735, 32423031	Exon 4	Coronary artery disease, cabg, myocardial infarction	Yes
LDLR_0664	c.544C>T	p.Gln182*	LDLR	1	SNV	Nonsense	Pathogenic	10782930	Exon 4		Yes
LDLR_0665	c.545A>G	p.Gln182Arg	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 4		Yes
LDLR_0666	c.549dup	p.Cys184Leufs*2	LDLR	1	Duplication	Frameshift	Pathogenic	26608663	Exon 4		No
LDLR_0667	c.550T>C	p.Cys184Arg	LDLR	39	SNV	Missense	Likely Pathogenic	34176852, 10735632, 11810272, Show More >>	Exon 4	Myocardial infarction	Yes
LDLR_0668	c.551G>A	p.Cys184Tyr	LDLR	53	SNV	Missense	Pathogenic	34176852, 10357843, 10559517, Show More >>	Exon 4		Yes
LDLR_0669	c.551_553delinsTT	p.Cys184Phefs*22	LDLR	2	Delins	Frameshift	Pathogenic	23155708	Exon 4		No
LDLR_0670	c.552T>G	p.Cys184Trp	LDLR	2	SNV	Missense	Likely Pathogenic	11462246, 33269076	Exon 4		Yes
LDLR_0671	c.556G>C	p.Gly186Arg	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 4		No
LDLR_0673	c.557dup	p.Leu187Serfs*9	LDLR	1	Duplication	Frameshift	Pathogenic	10090484	Exon 4		No
LDLR_0672	c.557del	p.Gly186Valfs*20	LDLR	4	Deletion	Frameshift	Pathogenic	11462246, 19446849, 23375686, Show More >>	Exon 4		No
LDLR_0674	c.558_559insG	p.Leu187Alafs*9	LDLR	2	Insertion	Frameshift	Pathogenic	11845603, 9452095	Exon 4		Yes
LDLR_0675	c.561_562del	p.Tyr188Argfs*7	LDLR	1	Deletion	Frameshift	Pathogenic	7635461	Exon 4		No
LDLR_0677	c.562dup	p.Tyr188Leufs*8	LDLR	1	Duplication	Frameshift	Pathogenic	21376320	Exon 4		No
LDLR_0676	c.562del	p.Tyr188Thrfs*18	LDLR	9	Deletion	Frameshift	Pathogenic	20538126, 21376320, 28502495, Show More >>	Exon 4		No
LDLR_0679	c.564del	p.Tyr188*	LDLR	1	Deletion	Nonsense	Pathogenic	17539906	Exon 4		No
LDLR_0678	c.564C>G	p.Tyr188*	LDLR	24	SNV	Nonsense	Pathogenic	17094996, 1734722, 32829317, Show More >>	Exon 4		Yes
LDLR_0680	c.565G>A	p.Val189Met	LDLR	3	SNV	Missense	Uncertain Significance	34176852, 12417285, 20006333, Show More >>	Exon 4		Yes
LDLR_0681	c.567del	p.Phe190Serfs*16	LDLR	1	Deletion	Frameshift	Pathogenic	7557960	Exon 4		No
LDLR_0682	c.568_590del	p.Phe190Leufs*20	LDLR	10	Deletion	Frameshift	Pathogenic	7557960	Exon 4	Coronary artery disease	No
LDLR_0683	c.569del	p.Phe190Serfs*16	LDLR	1	Deletion	Frameshift	Pathogenic	28964736	Exon 4		No
LDLR_0684	c.571C>A	p.Gln191Lys	LDLR	1	SNV	Missense	Uncertain Significance	35999587	Exon 4		No
LDLR_0685	c.571C>T	p.Gln191*	LDLR	3	SNV	Nonsense	Pathogenic	17964958, 9763532	Exon 4		Yes
LDLR_0686	c.577dup	p.Asp193Glyfs*3	LDLR	1	Duplication	Frameshift	Pathogenic	21310417	Exon 4		No
LDLR_0687	c.577G>A	p.Asp193Asn	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 4		No
LDLR_0691	c.578A>T	p.Asp193Val	LDLR	1	SNV	Missense	Likely Pathogenic	31332430	Exon 4		No
LDLR_0688	c.578A>C	p.Asp193Ala	LDLR	1	SNV	Missense	Likely Pathogenic	30617148	Exon 4		No
LDLR_0689	c.578del	p.Asp193Alafs*13	LDLR	2	Deletion	Frameshift	Pathogenic	22698793	Exon 4		Yes
LDLR_0690	c.578A>G	p.Asp193Gly	LDLR	1	SNV	Missense	Uncertain Significance	31332430	Exon 4		No
LDLR_0692	c.578_584del	p.Asp193Alafs*11	LDLR	2	Deletion	Frameshift	Pathogenic	11916007	Exon 4		No
LDLR_0693	c.579del	p.Asp193Glufs*13	LDLR	1	Deletion	Frameshift	Pathogenic	21310417	Exon 4		Yes
LDLR_0696	c.580A>G	p.Ser194Gly	LDLR	1	SNV	Missense	Uncertain Significance	36499307	Exon 4		Yes
LDLR_0694	c.580del	p.Ser194Valfs*12	LDLR	1	Deletion	Frameshift	Pathogenic	20019594	Exon 4		No
LDLR_0695	c.580dup	p.Ser194Lysfs*2	LDLR	1	Duplication	Frameshift	Pathogenic	20019594	Exon 4		No
LDLR_0697	c.581del	p.Ser194Ilefs*12	LDLR	1	Deletion	Frameshift	Pathogenic	20019594	Exon 4		Yes
LDLR_0698	c.581_582insA	p.Ser194Argfs*2	LDLR	1	Insertion	Frameshift	Pathogenic	20019594	Exon 4		Yes
LDLR_0699	c.583_589del	p.Ser195Alafs*9	LDLR	1	Deletion	Frameshift	Pathogenic	7616546	Exon 4	Coronary artery disease, peripheral vascular disease
LDLR_0700	c.584G>A	p.Ser195Asn	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 4		Yes
LDLR_0701	c.585_586insT	p.Pro196Serfs*22	LDLR	1	Insertion	Frameshift	Likely Pathogenic	18700895	Exon 4		No
LDLR_0702	c.586C>A	p.Pro196Thr	LDLR	1	SNV	Missense	Uncertain Significance	16792510	Exon 4		Yes
LDLR_0703	c.586C>G	p.Pro196Ala	LDLR	1	SNV	Missense	Uncertain Significance	38336686	Exon 4		No
LDLR_0704	c.587C>G	p.Pro196Arg	LDLR	2	SNV	Missense	Uncertain Significance	33418990	Exon 4		No
LDLR_0706	c.589T>G	p.Cys197Gly	LDLR	3	SNV	Missense	Likely Pathogenic	20809525, 24014831, 28964736	Exon 4		Yes
LDLR_0705	c.589T>C	p.Cys197Arg	LDLR	6	SNV	Missense	Likely Pathogenic	19446849, 22883975, 23375686, Show More >>	Exon 4		Yes
LDLR_0709	c.590G>A	p.Cys197Tyr	LDLR	35	SNV	Missense	Likely Pathogenic	1301956, 18096825, 20538126, Show More >>	Exon 4	Corneal arcus, xanthomas, coronary artery disease, Xanthomas	Yes
LDLR_0708	c.590G>C	p.Cys197Ser	LDLR	1	SNV	Missense	Likely Pathogenic	28964736	Exon 4		Yes
LDLR_0707	c.590G>T	p.Cys197Phe	LDLR	2	SNV	Missense	Likely Pathogenic	1301956, 20828696	Exon 4		Yes
LDLR_0711	c.591C>G	p.Cys197Trp	LDLR	3	SNV	Missense	Likely Pathogenic	20145306	Exon 4		Yes
LDLR_0710	c.591C>A	p.Cys197*	LDLR	2	SNV	Nonsense	Pathogenic	32829317	Exon 4		Yes
LDLR_0712	c.593C>A	p.Ser198*	LDLR	5	SNV	Nonsense	Pathogenic	23375686, 28964736, 30312929	Exon 4		Yes
LDLR_0713	c.598T>A	p.Phe200Ile	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 4		Yes
LDLR_0714	c.599T>G	p.Phe200Cys	LDLR	10	SNV	Missense	Likely Pathogenic	20538126, 21376320, 28502495, Show More >>	Exon 4		Yes
LDLR_0715	c.600del	p.Phe200Leufs*6	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 4		Yes
LDLR_0716	c.600C>A	p.Phe200Leu	LDLR	2	SNV	Missense	Likely Pathogenic	11462246	Exon 4		Yes
LDLR_0718	c.601G>C	p.Glu201Gln	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 4		Yes
LDLR_0717	c.601G>A	p.Glu201Lys	LDLR	9	SNV	Missense	Uncertain Significance	21418584	Exon 4		Yes
LDLR_0719	c.602A>C	p.Glu201Ala	LDLR	1	SNV	Missense	Uncertain Significance	20030366	Exon 4		Yes
LDLR_0720	c.605T>C	p.Phe202Ser	LDLR	9	SNV	Missense	Likely Pathogenic	25846081, 28235710	Exon 4	Xanthomas	Yes
LDLR_0721	c.605T>A	p.Phe202Tyr	LDLR	1	SNV	Missense	Uncertain Significance	3417658	Exon 4		No
LDLR_0722	c.607C>T	p.His203Tyr	LDLR	1	SNV	Missense	Uncertain Significance	35474963	Exon 4		No
LDLR_0724	c.607del	p.His203Thrfs*3	LDLR	2	Deletion	Frameshift	Pathogenic	33797469	Exon 4	Xanthomas	No
LDLR_0723	c.607dup	p.His203Profs*15	LDLR	1	Duplication	Frameshift	Pathogenic	33797469	Exon 4		No
LDLR_0725	c.609del	p.Cys204Alafs*2	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 4		Yes
LDLR_0726	c.610T>C	p.Cys204Arg	LDLR	1	SNV	Missense	Likely Pathogenic	35560019	Exon 4		Yes
LDLR_0727	c.610T>G	p.Cys204Gly	LDLR	1	SNV	Missense	Likely Pathogenic	31491741	Exon 4		Yes
LDLR_0729	c.611G>A	p.Cys204Tyr	LDLR	6	SNV	Missense	Likely Pathogenic	16465405, 20809525, 23375686, Show More >>	Exon 4		Yes
LDLR_0728	c.611G>C	p.Cys204Ser	LDLR	29	SNV	Missense	Likely Pathogenic	34176852, 12417285, 18718593, Show More >>	Exon 4		Yes
LDLR_0730	c.616A>C	p.Ser206Arg	LDLR	1	SNV	Missense	Uncertain Significance	33269076	Exon 4		Yes
LDLR_0731	c.616dup	p.Ser206Lysfs*12	LDLR	3	Duplication	Frameshift	Pathogenic	23375686	Exon 4		No
LDLR_0732	c.617del	p.Ser206Metfs*59	LDLR	2	Deletion	Frameshift	Pathogenic	11845603, 9664576	Exon 4		Yes
LDLR_0733	c.618T>G	p.Ser206Arg	LDLR	1	SNV	Missense	Uncertain Significance	24373485	Exon 4	Xanthelasmas	Yes
LDLR_0734	c.618_638del	p.Gly207_Ser213del	LDLR	1	Deletion	Deletion	Likely Pathogenic	37719435	Exon 4		No
LDLR_0735	c.620_626del	p.Gly207Alafs*56	LDLR	1	Deletion	Frameshift	Pathogenic	28965616	Exon 4		No
LDLR_0736	c.621C>T	p.Gly207=	LDLR	44	SNV	Silent	Likely Pathogenic	18400033, 27784735, 28104544, Show More >>	Exon 4	Myocardial infarction	Yes
LDLR_0737	c.621C>G	p.Gly207=	LDLR	8	SNV	Silent	Likely Pathogenic	21382890, 30293936	Exon 4		Yes
LDLR_0738	c.622G>C	p.Glu208Gln	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 4		No
LDLR_0740	c.622G>T	p.Glu208*	LDLR	1	SNV	Nonsense	Pathogenic	36556333	Exon 4		Yes
LDLR_0739	c.622G>A	p.Glu208Lys	LDLR	24	SNV	Missense	Pathogenic	11810272, 1301956, 16466730, Show More >>	Exon 4	Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_0741	c.623A>C	p.Glu208Ala	LDLR	1	SNV	Missense	Uncertain Significance	20030366	Exon 4		No
LDLR_0742	c.623_644del	p.Glu208Alafs*50	LDLR	2	Deletion	Frameshift	Pathogenic	10978268	Exon 4		No
LDLR_0743	c.625T>G	p.Cys209Gly	LDLR	1	SNV	Missense	Uncertain Significance	37568561	Exon 4		Yes
LDLR_0744	c.625_626dup	p.Ile210Alafs*56	LDLR	1	Duplication	Frameshift	Pathogenic	22698793	Exon 4		No
LDLR_0745	c.626G>A	p.Cys209Tyr	LDLR	27	SNV	Missense	Uncertain Significance	11524740, 22698793, 27824480, Show More >>	Exon 4	Coronary artery disease, peripheral vascular disease	Yes
LDLR_0746	c.627C>A	p.Cys209*	LDLR	1	SNV	Nonsense	Pathogenic	22859806	Exon 4		No
LDLR_0747	c.628A>T	p.Ile210Phe	LDLR	1	SNV	Missense	Likely Pathogenic	33890476	Exon 4		No
LDLR_0748	c.629T>A	p.Ile210Asn	LDLR	1	SNV	Missense	Likely Pathogenic	23669246	Exon 4		Yes
LDLR_0749	c.631C>G	p.His211Asp	LDLR	6	SNV	Missense	Likely Pathogenic	17765246, 27784735, 38122934	Exon 4	Myocardial infarction	Yes
LDLR_0750	c.631C>T	p.His211Tyr	LDLR	8	SNV	Missense	Likely Pathogenic	10570905, 23064986	Exon 4		Yes
LDLR_0751	c.632A>T	p.His211Leu	LDLR	2	SNV	Missense	Likely Pathogenic	17347910, 34363016	Exon 4		Yes
LDLR_0752	c.632_634del	p.His211_Ser212delinsPro	LDLR	2	Deletion	Deletion	Likely Pathogenic	29353225, 7903864	Exon 4	Xanthomas	Yes
LDLR_0753	c.638G>C	p.Ser213Thr	LDLR	1	SNV	Missense	Uncertain Significance	16389549	Exon 4		Yes
LDLR_0754	c.640T>C	p.Trp214Arg	LDLR	1	SNV	Missense	Likely Pathogenic	31689621	Exon 4		Yes
LDLR_0755	c.641G>A	p.Trp214*	LDLR	2	SNV	Nonsense	Pathogenic	28965616, 33890476	Exon 4		Yes
LDLR_0756	c.641G>C	p.Trp214Ser	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 4		Yes
LDLR_0757	c.642G>A	p.Trp214*	LDLR	2	SNV	Nonsense	Pathogenic	10532689, 16542394	Exon 4		Yes
LDLR_0758	c.642G>C	p.Trp214Cys	LDLR	1	SNV	Missense	Likely Pathogenic	37967952	Exon 4		No
LDLR_0760	c.643C>T	p.Arg215Cys	LDLR	3	SNV	Missense	Uncertain Significance	30270359	Exon 4		Yes
LDLR_0759	c.643C>A	p.Arg215Ser	LDLR	1	SNV	Missense	Uncertain Significance	20019594	Exon 4		Yes
LDLR_0761	c.643_644insATCCACTCAGCTGGC	p.Trp214_Arg215insHisProLeuSerTrp	LDLR	2	Insertion	Insertion	Likely Pathogenic	23815734	Exon 4		No
LDLR_0762	c.645del	p.Cys216Valfs*49	LDLR	1	Deletion	Frameshift	Pathogenic	34575654	Exon 4		No
LDLR_0763	c.646del	p.Cys216Valfs*49	LDLR	1	Deletion	Frameshift	Pathogenic	9259195	Exon 4		Yes
LDLR_0764	c.646T>C	p.Cys216Arg	LDLR	5	SNV	Missense	Uncertain Significance	15241806, 18096825, 30270055, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0766	c.647G>A	p.Cys216Tyr	LDLR	3	SNV	Missense	Uncertain Significance	14974088, 33732287, 33794673	Exon 4		Yes
LDLR_0765	c.647G>C	p.Cys216Ser	LDLR	1	SNV	Missense	Uncertain Significance	26748104	Exon 4		No
LDLR_0767	c.648dup	p.Asp217*	LDLR	6	Duplication	Frameshift	Pathogenic	19446849, 23375686, 27765764, Show More >>	Exon 4		Yes
LDLR_0768	c.648_649del	p.Cys216*	LDLR	2	Deletion	Nonsense	Pathogenic	11810272, 21382890	Exon 4		No
LDLR_0769	c.648_656del	p.Asp217_Gly219del	LDLR	1	Deletion	Deletion	Uncertain Significance	20809525	Exon 4		No
LDLR_0770	c.649G>A	p.Asp217Asn	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 4		No
LDLR_0771	c.649_650insT	p.Asp217Valfs*11	LDLR	1	Insertion	Frameshift	Pathogenic	29057618	Exon 4		Yes
LDLR_0772	c.651del	p.Asp217Glufs*48	LDLR	1	Deletion	Frameshift	Pathogenic	29369830	Exon 4		No
LDLR_0773	c.652G>T	p.Gly218Cys	LDLR	1	SNV	Missense	Likely Pathogenic	30583242	Exon 4		No
LDLR_0776	c.653G>A	p.Gly218Asp	LDLR	1	SNV	Missense	Uncertain Significance	9678702	Exon 4		No
LDLR_0774	c.653dup	p.Gly219Trpfs*9	LDLR	1	Duplication	Frameshift	Pathogenic	31993549	Exon 4		No
LDLR_0775	c.653del	p.Gly218Valfs*47	LDLR	3	Deletion	Frameshift	Pathogenic	11668627, 27765764, 35222550	Exon 4		No
LDLR_0777	c.654del	p.Gly219Alafs*46	LDLR	1	Deletion	Frameshift	Pathogenic	31993549	Exon 4		No
LDLR_0778	c.654_656del	p.Gly219del	LDLR	375	Deletion	Deletion	Pathogenic	10208479, 10422804, 11309683, Show More >>	Exon 4	Coronary artery disease, Coronary artery disease, cabg, Xanthomas, coronary artery disease	No
LDLR_0780	c.654_682del	p.Pro220Lysfs*10	LDLR	7	Deletion	Frameshift	Pathogenic	31491741, 32331935, 33533259	Exon 4		No
LDLR_0782	c.656G>A	p.Gly219Asp	LDLR	2	SNV	Missense	Uncertain Significance	15135252	Exon 4		Yes
LDLR_0781	c.656del	p.Gly219Alafs*46	LDLR	1	Deletion	Frameshift	Pathogenic	31993549	Exon 4		No
LDLR_0783	c.658C>G	p.Pro220Ala	LDLR	1	SNV	Missense	Uncertain Significance	20030366	Exon 4		Yes
LDLR_0784	c.658_659insA	p.Pro220Hisfs*8	LDLR	1	Insertion	Frameshift	Pathogenic	33533259	Exon 4		No
LDLR_0785	c.658_663del	p.Pro220_Asp221del	LDLR	3	Deletion	Deletion	Likely Pathogenic	28964736, 32423031, 33418990	Exon 4		No
LDLR_0786	c.660del	p.Asp221Thrfs*44	LDLR	10	Deletion	Frameshift	Pathogenic	11139254, 11462246, 15556094, Show More >>	Exon 4	Cardiovascular disease, Coronary artery disease	No
LDLR_0789	c.661G>A	p.Asp221Asn	LDLR	99	SNV	Missense	Likely Pathogenic	10090484, 11196104, 15359125, Show More >>	Exon 4	Coronary artery disease, Xanthomas	Yes
LDLR_0788	c.661G>T	p.Asp221Tyr	LDLR	15	SNV	Missense	Pathogenic	10206683, 11845603, 15241806, Show More >>	Exon 4		Yes
LDLR_0787	c.661G>C	p.Asp221His	LDLR	1	SNV	Missense	Likely Pathogenic	30293936	Exon 4		Yes
LDLR_0790	c.661_673dup	p.Lys225Argfs*7	LDLR	2	Duplication	Frameshift	Pathogenic	23815734	Exon 4		Yes
LDLR_0791	c.662A>G	p.Asp221Gly	LDLR	888	SNV	Missense	Pathogenic	10206683, 10208479, 10208484, Show More >>	Exon 4	Angina, coronary artery disease, Angina, coronary artery disease, myocardial inf Show More >>	Yes
LDLR_0792	c.662_665dup	p.Cys222*	LDLR	5	Duplication	Nonsense	Pathogenic	34176852, 20006333, 21146822, Show More >>	Exon 4	Xanthomas	No
LDLR_0793	c.662_681dup	p.Glu228Thrfs*44	LDLR	1	Duplication	Frameshift	Pathogenic	22294733	Exon 4		Yes
LDLR_0794	c.663_664insCCCGC	p.Cys222Profs*45	LDLR	1	Insertion	Frameshift	Pathogenic	11139254	Exon 4		No
LDLR_0795	c.663_683dup	p.Asp221_Asp227dup	LDLR	7	Duplication	In-frame duplication	Likely Pathogenic	10447263, 16250003, 17094996, Show More >>	Exon 4	Xanthomas	No
LDLR_0796	c.664T>C	p.Cys222Arg	LDLR	10	SNV	Missense	Likely Pathogenic	15823276, 22883975, 25043216, Show More >>	Exon 4	Corneal arcus, xanthomas, coronary artery disease, Xanthomas, angina, cardiovasc Show More >>	Yes
LDLR_0797	c.664T>G	p.Cys222Gly	LDLR	1	SNV	Missense	Likely Pathogenic	20236128	Exon 4		Yes
LDLR_0799	c.664_681delinsCCGACTG	p.Cys222Profs*14	LDLR	1	Delins	Frameshift	Pathogenic	20809525	Exon 4		No
LDLR_0798	c.664_681dup	p.Cys222_Asp227dup	LDLR	12	Duplication	In-frame duplication	Likely Pathogenic	17196209, 20145306, 23375686, Show More >>	Exon 4		No
LDLR_0800	c.665G>A	p.Cys222Tyr	LDLR	21	SNV	Missense	Pathogenic	10978268, 19446849, 20145306, Show More >>	Exon 4		Yes
LDLR_0801	c.665G>T	p.Cys222Phe	LDLR	3	SNV	Missense	Likely Pathogenic	11810272, 24671153, 27830735	Exon 4	Corneal arcus, xanthelasmas, xanthomas, cardiovascular disease, coronary artery disease	Yes
LDLR_0802	c.666C>G	p.Cys222Trp	LDLR	1	SNV	Missense	Likely Pathogenic	26020417	Exon 4		Yes
LDLR_0803	c.666C>A	p.Cys222*	LDLR	33	SNV	Nonsense	Pathogenic	10735632, 16250003, 16343504, Show More >>	Exon 4	Coronary artery disease, Peripheral vascular disease, Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_0804	c.666_670dup	p.Asp224Alafs*43	LDLR	1	Duplication	Frameshift	Pathogenic	37511917	Exon 4		No
LDLR_0805	c.667_680dup	p.Asp227Glufs*43	LDLR	4	Duplication	Frameshift	Pathogenic	18718593, 31491741, 33533259	Exon 4	Xanthomas	No
LDLR_0806	c.667_681dup	p.Lys223_Asp227dup	LDLR	7	Duplication	In-frame duplication	Likely Pathogenic	18718593, 31491741, 32331935, Show More >>	Exon 4		No
LDLR_0807	c.667_693del	p.Lys223_Cys231del	LDLR	2	Deletion	Deletion	Likely Pathogenic	20809525, 23669246	Exon 4		No
LDLR_0808	c.668_681dup	p.Glu228Argfs*42	LDLR	1	Duplication	Frameshift	Pathogenic	22294733	Exon 4		Yes
LDLR_0809	c.669G>C	p.Lys223Asn	LDLR	2	SNV	Missense	Uncertain Significance	20809525	Exon 4		Yes
LDLR_0810	c.669_680dup	p.Ser226_Asp227insGluAspLysSer	LDLR	3	Duplication	Insertion	Likely Pathogenic	11139254, 14974088, 20145306	Exon 4		No
LDLR_0812	c.670G>A	p.Asp224Asn	LDLR	171	SNV	Missense	Pathogenic	1301956, 15576851, 16627557, Show More >>	Exon 4	Xanthomas	Yes
LDLR_0811	c.670dup	p.Asp224Glyfs*4	LDLR	2	Duplication	Frameshift	Pathogenic	15701167	Exon 4		No
LDLR_0814	c.670_675delinsTTT	p.Asp224_Lys225delinsPhe	LDLR	1	Delins	Protein altering	Uncertain Significance	23680767	Exon 4		No
LDLR_0813	c.670_675dup	p.Asp224_Lys225dup	LDLR	1	Duplication	In-frame duplication	Likely Pathogenic	30405244	Exon 4		Yes
LDLR_0815	c.670_682dup	p.Glu228Glyfs*4	LDLR	5	Duplication	Frameshift	Pathogenic	27206942, 31491741, 32331935, Show More >>	Exon 4		No
LDLR_0817	c.671A>C	p.Asp224Ala	LDLR	1	SNV	Missense	Likely Pathogenic	10422804	Exon 4		Yes
LDLR_0818	c.671A>G	p.Asp224Gly	LDLR	14	SNV	Missense	Likely Pathogenic	1301956, 20091938, 23375686, Show More >>	Exon 4	Corneal arcus, xanthomas, cardiovascular disease, myocardial infarction, peripheral vascular disease, Xanthomas	Yes
LDLR_0816	c.671A>T	p.Asp224Val	LDLR	6	SNV	Missense	Likely Pathogenic	11462246, 11810272, 16466730, Show More >>	Exon 4		Yes
LDLR_0819	c.672C>G	p.Asp224Glu	LDLR	1	SNV	Missense	Likely Pathogenic	28964736	Exon 4		Yes
LDLR_0820	c.672_683dup	p.Asp224_Asp227dup	LDLR	2	Duplication	In-frame duplication	Likely Pathogenic	15241806	Exon 4		No
LDLR_0821	c.672_686del	p.Asp224_Glu228del	LDLR	2	Deletion	Deletion	Likely Pathogenic	27578128, 27784735, 33418990	Exon 4		No
LDLR_0822	c.673_681dup	p.Lys225_Asp227dup	LDLR	13	Duplication	In-frame duplication	Likely Pathogenic	20809525, 25461735, 31491741, Show More >>	Exon 4		No
LDLR_0824	c.673_682delinsTGCAA	p.Lys225Cysfs*13	LDLR	2	Delins	Frameshift	Pathogenic	20809525	Exon 4		No
LDLR_0823	c.673_682delinsTGCA	p.Lys225_Glu228delinsCysLys	LDLR	1	Delins	Protein altering	Uncertain Significance	27824480	Exon 4		No
LDLR_0825	c.674_675delinsTAT	p.Lys225Ilefs*3	LDLR	1	Delins	Frameshift	Pathogenic	29870584	Exon 4		No
LDLR_0827	c.675del	p.Lys225Asnfs*40	LDLR	1	Deletion	Frameshift	Pathogenic	27830735	Exon 4		No
LDLR_0826	c.675dup	p.Ser226Ilefs*2	LDLR	1	Duplication	Frameshift	Pathogenic	11462246	Exon 4		No
LDLR_0828	c.675_689del	p.Lys225_Glu229del	LDLR	1	Deletion	Deletion	Uncertain Significance	15241806	Exon 4		No
LDLR_0829	c.676T>C	p.Ser226Pro	LDLR	11	SNV	Missense	Likely Pathogenic	11139254, 11668640, 1301956, Show More >>	Exon 4		Yes
LDLR_0830	c.676_677insACGGT	p.Ser226Tyrfs*41	LDLR	1	Insertion	Frameshift	Pathogenic	11462246	Exon 4		No
LDLR_0831	c.676_684dup	p.Ser226_Glu228dup	LDLR	1	Duplication	In-frame duplication	Uncertain Significance	23375686	Exon 4		Yes
LDLR_0833	c.677C>G	p.Ser226Cys	LDLR	1	SNV	Missense	Likely Pathogenic	38523000	Exon 4		Yes
LDLR_0832	c.677del	p.Ser226Leufs*39	LDLR	1	Deletion	Frameshift	Pathogenic	11462246	Exon 4		No
LDLR_0834	c.679G>T	p.Asp227Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	2600087	Exon 4		No
LDLR_0836	c.679G>A	p.Asp227Asn	LDLR	2	SNV	Missense	Likely Pathogenic	31491741, 32829317	Exon 4		Yes
LDLR_0835	c.679G>C	p.Asp227His	LDLR	1	SNV	Missense	Uncertain Significance	19837725	Exon 4		Yes
LDLR_0839	c.680A>G	p.Asp227Gly	LDLR	1	SNV	Missense	Uncertain Significance	17044057	Exon 4		Yes
LDLR_0837	c.680del	p.Asp227Alafs*38	LDLR	1	Deletion	Frameshift	Pathogenic	33533259	Exon 4		No
LDLR_0838	c.680A>T	p.Asp227Val	LDLR	4	SNV	Missense	Likely Pathogenic	20809525	Exon 4		Yes
LDLR_0840	c.680_681del	p.Asp227Glyfs*12	LDLR	23	Deletion	Frameshift	Pathogenic	10559517, 14974088, 16159606, Show More >>	Exon 4		Yes
LDLR_0842	c.681C>A	p.Asp227Glu	LDLR	15	SNV	Missense	Pathogenic	17087781, 18718593, 21382890, Show More >>	Exon 4		Yes
LDLR_0841	c.681C>G	p.Asp227Glu	LDLR	789	SNV	Missense	Pathogenic	10357843, 10422804, 10614803, Show More >>	Exon 4	Cardiovascular disease, peripheral vascular disease, Cardiovascular disease, val Show More >>	Yes
LDLR_0843	c.681_682insAA	p.Glu228Lysfs*38	LDLR	1	Insertion	Frameshift	Pathogenic	22294733	Exon 4		No
LDLR_0844	c.681_683del	p.Asp227del	LDLR	2	Deletion	Deletion	Likely Pathogenic	20145306, 25187945	Exon 4		No
LDLR_0848	c.682delinsTGCA	p.Glu228delinsCysLys	LDLR	11	Delins	Protein altering	Likely Pathogenic	10978268, 23375686, 28161202	Exon 4		No
LDLR_0847	c.682del	p.Glu228Argfs*37	LDLR	4	Deletion	Frameshift	Pathogenic	20809525	Exon 4		Yes
LDLR_0849	c.682G>T	p.Glu228*	LDLR	179	SNV	Nonsense	Pathogenic	10208479, 10735632, 11139254, Show More >>	Exon 4	Coronary artery disease, Xanthomas, angina	Yes
LDLR_0846	c.682G>C	p.Glu228Gln	LDLR	19	SNV	Missense	Pathogenic	1301956, 16250003, 16389549, Show More >>	Exon 4	Coronary artery disease, Xanthomas	Yes
LDLR_0845	c.682G>A	p.Glu228Lys	LDLR	854	SNV	Missense	Pathogenic	34176852, 10208489, 10208490, Show More >>	Exon 4	Coronary artery disease, Xanthomas, Xanthomas, coronary artery disease, myocardial infarction, peripheral vascular disease	Yes
LDLR_0850	c.682_683insGACAAATCTGAG	p.Asp227_Glu228insGlyGlnIle*	LDLR	1	Insertion	Nonsense	Likely Pathogenic	23375686	Exon 4		No
LDLR_0852	c.683A>G	p.Glu228Gly	LDLR	2	SNV	Missense	Likely Pathogenic	31491741, 32331935	Exon 4		Yes
LDLR_0851	c.683A>C	p.Glu228Ala	LDLR	1	SNV	Missense	Uncertain Significance	21722902	Exon 4		Yes
LDLR_0853	c.683_684insAATCTGACA	p.Glu228_Glu229insIle*	LDLR	1	Insertion	Nonsense	Uncertain Significance	20809525	Exon 4		No
LDLR_0854	c.683_694del	p.Glu228_Cys231del	LDLR	1	Deletion	Deletion	Uncertain Significance	28379029	Exon 4		No
LDLR_0855	c.684G>C	p.Glu228Asp	LDLR	3	SNV	Missense	Likely Pathogenic	28502510, 28964736, 30270055	Exon 4		Yes
LDLR_0857	c.684G>A	p.Glu228=	LDLR	1	SNV	Silent	Uncertain Significance	21722902	Exon 4		Yes
LDLR_0856	c.684G>T	p.Glu228Asp	LDLR	1	SNV	Missense	Likely Pathogenic	31106925	Exon 4		Yes
LDLR_0859	c.685G>A	p.Glu229Lys	LDLR	1	SNV	Missense	Uncertain Significance	18677035	Exon 4		Yes
LDLR_0860	c.685G>C	p.Glu229Gln	LDLR	1	SNV	Missense	Uncertain Significance	30617148	Exon 4		No
LDLR_0858	c.685del	p.Glu229Lysfs*36	LDLR	2	Deletion	Frameshift	Pathogenic	17445538	Exon 4		No
LDLR_0861	c.686A>T	p.Glu229Val	LDLR	3	SNV	Missense	Pathogenic	24946816, 26802169, 32911577	Exon 4	Coronary artery disease, cabg	Yes
LDLR_0862	c.686_689del	p.Glu229Alafs*35	LDLR	1	Deletion	Frameshift	Pathogenic	17445538	Exon 4		No
LDLR_0863	c.688A>G	p.Asn230Asp	LDLR	1	SNV	Missense	Uncertain Significance	28965616	Exon 4		Yes
LDLR_0864	c.690C>T	p.Asn230=	LDLR	1	SNV	Silent	Uncertain Significance	20019594	Exon 4		Yes
LDLR_0865	c.691T>C	p.Cys231Arg	LDLR	6	SNV	Missense	Likely Pathogenic	19073363, 27830735, 28964736	Exon 4	Coronary artery disease	Yes
LDLR_0866	c.691T>G	p.Cys231Gly	LDLR	292	SNV	Missense	Likely Pathogenic	10422804, 10947889, 11195242, Show More >>	Exon 4	Corneal arcus, xanthomas	Yes
LDLR_0867	c.692G>A	p.Cys231Tyr	LDLR	9	SNV	Missense	Likely Pathogenic	10782930, 20145306	Exon 4		Yes
LDLR_0868	c.693C>A	p.Cys231*	LDLR	35	SNV	Nonsense	Pathogenic	10559517, 16159606, 16389549, Show More >>	Exon 4	Coronary artery disease, cabg	Yes
LDLR_0869	c.693C>G	p.Cys231Trp	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 4		Yes
LDLR_0870	c.693_694+20del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	20809525	Exon 4		No
LDLR_0872	c.694G>T	p.Ala232Ser	LDLR	1	SNV	Missense	Uncertain Significance	31106925	Exon 4		Yes
LDLR_0871	c.694G>A	p.Ala232Thr	LDLR	1	SNV	Missense	Uncertain Significance	29269200	Exon 4		Yes
LDLR_0875	c.694+1G>C	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	34297352	Intron 4		Yes
LDLR_0874	c.694+1G>T	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	20809525, 23064986	Intron 4		Yes
LDLR_0873	c.694+1G>A	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	16542394, 32331935	Intron 4		Yes
LDLR_0876	c.694+2T>C	Intronic	LDLR	101	SNV	Splice donor	Pathogenic	32706999, 33794673, 33994402, Show More >>	Intron 4	Xanthomas	Yes
LDLR_0877	c.694+2T>G	Intronic	LDLR	1	SNV	Splice donor	Likely Pathogenic	15599766	Intron 4		No
LDLR_0878	c.694+4dup	Intronic	LDLR	2	Duplication	Splice region	Uncertain Significance	23375686, 35795214	Intron 4	Xanthomas	Yes
LDLR_0880	c.694+8_694+18del	Intronic	LDLR	1	Deletion	Intronic	Uncertain Significance	26927322	Intron 4		No
LDLR_0879	c.694+8_694+18dup	Intronic	LDLR	1	Duplication	Intronic	Uncertain Significance	16250003	Intron 4		No
LDLR_0881	c.694+25C>T	Intronic	LDLR	4	SNV	Intronic	Uncertain Significance	11668640, 16627557, 23375686, Show More >>	Intron 4		Yes
LDLR_0882	c.694+285A>C	Intronic	LDLR	1	SNV	Intronic	Benign		Intron 4		No
LDLR_0883	c.694+341G>A	Intronic	LDLR	1	SNV	Intronic	Benign		Intron 4		No
LDLR_0884	c.695-105G>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20145306	Intron 4		Yes
LDLR_0885	c.695-6_698del	Intronic	LDLR	1	Deletion	Splice acceptor	Uncertain Significance	23054246	Intron 4		No
LDLR_0886	c.695-1G>T	Intronic	LDLR	3	SNV	Splice acceptor	Pathogenic	21722902	Intron 4		Yes
LDLR_0887	c.695-1G>A	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	27765764, 32829317	Intron 4		Yes
LDLR_0888	c.698T>C	p.Val233Ala	LDLR	1	SNV	Missense	Uncertain Significance	28965616	Exon 5		No
LDLR_0889	c.703dup	p.Thr235Asnfs*5	LDLR	1	Duplication	Frameshift	Likely Pathogenic	15556093	Exon 5		Yes
LDLR_0891	c.705dup	p.Cys236Leufs*4	LDLR	1	Duplication	Frameshift	Pathogenic	17094996	Exon 5		No
LDLR_0890	c.705del	p.Cys236Valfs*29	LDLR	1	Deletion	Frameshift	Pathogenic	17094996	Exon 5		No
LDLR_0893	c.706T>C	p.Cys236Arg	LDLR	1	SNV	Missense	Uncertain Significance	11810272	Exon 5		Yes
LDLR_0892	c.706T>A	p.Cys236Ser	LDLR	1	SNV	Missense	Uncertain Significance	28475941	Exon 5		Yes
LDLR_0894	c.708dup	p.Arg237Serfs*3	LDLR	1	Duplication	Frameshift	Pathogenic	15199436	Exon 5		Yes
LDLR_0895	c.709C>T	p.Arg237Cys	LDLR	1	SNV	Missense	Uncertain Significance	25463123	Exon 5		Yes
LDLR_0896	c.710G>A	p.Arg237His	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 5		Yes
LDLR_0897	c.718G>A	p.Glu240Lys	LDLR	13	SNV	Missense	Pathogenic	1301956, 16250003, 23375686, Show More >>	Exon 5		Yes
LDLR_0898	c.718G>T	p.Glu240*	LDLR	1	SNV	Nonsense	Pathogenic	16250003	Exon 5		Yes
LDLR_0899	c.722del	p.Phe241Serfs*24	LDLR	1	Deletion	Frameshift	Pathogenic	30293936	Exon 5		No
LDLR_0900	c.722T>C	p.Phe241Ser	LDLR	4	SNV	Missense	Uncertain Significance	16389549, 17094996, 28349888	Exon 5		Yes
LDLR_0901	c.724C>T	p.Gln242*	LDLR	2	SNV	Nonsense	Pathogenic	29233637, 33794673	Exon 5	Xanthomas	Yes
LDLR_0902	c.726G>C	p.Gln242His	LDLR	6	SNV	Missense	Likely Pathogenic	25014035, 32331935	Exon 5	Xanthomas	No
LDLR_0903	c.727T>C	p.Cys243Arg	LDLR	5	SNV	Missense	Uncertain Significance	10532689, 28502510, 31491741, Show More >>	Exon 5		Yes
LDLR_0904	c.728G>A	p.Cys243Tyr	LDLR	8	SNV	Missense	Uncertain Significance	30400955, 33093846, 35047021	Exon 5	Corneal arcus, xanthomas	No
LDLR_0905	c.732del	p.Asp245Metfs*20	LDLR	1	Deletion	Frameshift	Pathogenic	18096825	Exon 5		No
LDLR_0906	c.737G>A	p.Gly246Glu	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 5		Yes
LDLR_0907	c.737del	p.Gly246Glufs*19	LDLR	7	Deletion	Frameshift	Pathogenic	10563483, 17643240, 23680767, Show More >>	Exon 5		No
LDLR_0908	c.742T>G	p.Cys248Gly	LDLR	1	SNV	Missense	Likely Pathogenic	11810272	Exon 5		Yes
LDLR_0909	c.743G>T	p.Cys248Phe	LDLR	2	SNV	Missense	Likely Pathogenic	1301956, 31491741	Exon 5		Yes
LDLR_0910	c.743G>A	p.Cys248Tyr	LDLR	4	SNV	Missense	Likely Pathogenic	17094996, 4039004, 9026534	Exon 5		Yes
LDLR_0911	c.746T>C	p.Ile249Thr	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 5		Yes
LDLR_0912	c.748C>G	p.His250Asp	LDLR	1	SNV	Missense	Uncertain Significance	29269200	Exon 5		No
LDLR_0913	c.749A>G	p.His250Arg	LDLR	1	SNV	Missense	Uncertain Significance	30270359	Exon 5		Yes
LDLR_0914	c.750T>C	p.His250=	LDLR	1	SNV	Silent	Uncertain Significance	19062533	Exon 5		Yes
LDLR_0915	c.752dup	p.Ser252Glnfs*5	LDLR	2	Duplication	Frameshift	Pathogenic	20809525	Exon 5		No
LDLR_0916	c.756_762del	p.Arg253Valfs*10	LDLR	12	Deletion	Frameshift	Pathogenic	17968143	Exon 5	Corneal arcus, xanthelasmas, xanthomas, myocardial infarction, Corneal arcus, xanthomas, Corneal arcus, xanthomas, coronary artery disease	No
LDLR_0917	c.757C>T	p.Arg253Trp	LDLR	13	SNV	Missense	Uncertain Significance	10735632, 10882754, 11005141, Show More >>	Exon 5	Corneal arcus, xanthomas	Yes
LDLR_0918	c.757del	p.Arg253Glyfs*12	LDLR	1	Deletion	Frameshift	Pathogenic	25911074	Exon 5		No
LDLR_0919	c.758G>A	p.Arg253Gln	LDLR	1	SNV	Missense	Uncertain Significance	36769678	Exon 5		Yes
LDLR_0920	c.758G>C	p.Arg253Pro	LDLR	1	SNV	Missense	Uncertain Significance	20236128	Exon 5		Yes
LDLR_0921	c.760C>T	p.Gln254*	LDLR	13	SNV	Nonsense	Pathogenic	23375686, 27206941, 27784735, Show More >>	Exon 5	Xanthomas	Yes
LDLR_0922	c.761A>C	p.Gln254Pro	LDLR	36	SNV	Missense	Pathogenic	10978268, 11524740, 14974088, Show More >>	Exon 5	Coronary artery disease, Xanthomas	Yes
LDLR_0923	c.762G>T	p.Gln254His	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 5		Yes
LDLR_0924	c.762_763delinsTG	p.Gln254delins	LDLR	2	Delins	Missense, Protein altering	Likely Pathogenic	15823276	Exon 5	Xanthomas, coronary artery disease
LDLR_0925	c.763T>C	p.Cys255Arg	LDLR	11	SNV	Missense	Likely Pathogenic	10735632, 11810272, 21382890, Show More >>	Exon 5
LDLR_0926	c.763T>A	p.Cys255Ser	LDLR	28	SNV	Missense	Likely Pathogenic	17694954, 21418584, 25194536, Show More >>	Exon 5	Corneal arcus, xanthelasmas, xanthomas	Yes
LDLR_0927	c.764G>A	p.Cys255Tyr	LDLR	1	SNV	Missense	Uncertain Significance	26892515	Exon 5		Yes
LDLR_0928	c.767A>G	p.Asp256Gly	LDLR	1	SNV	Missense	Likely Pathogenic	1301956	Exon 5		Yes
LDLR_0930	c.768C>A	p.Asp256Glu	LDLR	6	SNV	Missense	Likely Pathogenic	33418990, 34074024, 9261272	Exon 5	Xanthomas, angina, coronary artery disease	Yes
LDLR_0929	c.768C>G	p.Asp256Glu	LDLR	1	SNV	Missense	Pathogenic	34074024	Exon 5		Yes
LDLR_0931	c.769C>T	p.Arg257Trp	LDLR	1	SNV	Missense	Likely Benign	21376320	Exon 5		Yes
LDLR_0932	c.770G>A	p.Arg257Gln	LDLR	2	SNV	Missense	Uncertain Significance	34407635	Exon 5		Yes
LDLR_0934	c.772G>A	p.Glu258Lys	LDLR	2	SNV	Missense	Uncertain Significance	10422804, 11845603	Exon 5		Yes
LDLR_0933	c.772G>T	p.Glu258*	LDLR	2	SNV	Nonsense	Pathogenic	11313767, 16389549	Exon 5		Yes
LDLR_0935	c.775del	p.Tyr259Metfs*6	LDLR	1	Deletion	Frameshift	Likely Pathogenic	15885240	Exon 5		No
LDLR_0936	c.776A>C	p.Tyr259Ser	LDLR	1	SNV	Missense	Uncertain Significance	29269200	Exon 5		Yes
LDLR_0937	c.776del	p.Tyr259Leufs*6	LDLR	1	Deletion	Frameshift	Likely Pathogenic	15885240	Exon 5		No
LDLR_0938	c.776_777del	p.Tyr259*	LDLR	2	Deletion	Nonsense	Pathogenic	16250003, 23369702	Exon 5		No
LDLR_0939	c.777T>G	p.Tyr259*	LDLR	1	SNV	Nonsense	Pathogenic	28964736	Exon 5		Yes
LDLR_0941	c.781T>C	p.Cys261Arg	LDLR	1	SNV	Missense	Likely Pathogenic	38658794	Exon 5		Yes
LDLR_0940	c.781del	p.Cys261Alafs*4	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 5		Yes
LDLR_0942	c.782G>T	p.Cys261Phe	LDLR	16	SNV	Missense	Pathogenic	10422803, 16542394, 31371270, Show More >>	Exon 5	Xanthomas	Yes
LDLR_0943	c.787G>A	p.Asp263Asn	LDLR	1	SNV	Missense	Likely Pathogenic	36648309	Exon 5		Yes
LDLR_0944	c.787dup	p.Asp263Glyfs*5	LDLR	1	Duplication	Frameshift	Pathogenic	9767373	Exon 5	Xanthomas	No
LDLR_0945	c.788A>G	p.Asp263Gly	LDLR	6	SNV	Missense	Likely Pathogenic	28958694, 28965616, 34297352	Exon 5		Yes
LDLR_0946	c.790_793del	p.Met264Alafs*9	LDLR	4	Deletion	Frameshift	Pathogenic	11237541, 11600564, 11668640, Show More >>	Exon 5		Yes
LDLR_0947	c.791del	p.Met264Argfs*10	LDLR	1	Deletion	Frameshift	Pathogenic	11600564	Exon 5		Yes
LDLR_0948	c.793A>T	p.Ser265Cys	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 5		Yes
LDLR_0950	c.796G>C	p.Asp266His	LDLR	1	SNV	Missense	Likely Pathogenic	28235710	Exon 5		Yes
LDLR_0952	c.796del	p.Asp266Metfs*8	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 5		No
LDLR_0949	c.796G>T	p.Asp266Tyr	LDLR	6	SNV	Missense	Pathogenic	11196104	Exon 5		Yes
LDLR_0951	c.796G>A	p.Asp266Asn	LDLR	31	SNV	Missense	Pathogenic	34176852, 11810272, 12414836, Show More >>	Exon 5	Angina, coronary artery disease, Coronary artery disease, Coronary artery disease, myocardial infarction, Xanthomas	Yes
LDLR_0953	c.797A>G	p.Asp266Gly	LDLR	6	SNV	Missense	Likely Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 5		Yes
LDLR_0954	c.797A>T	p.Asp266Val	LDLR	1	SNV	Missense	Likely Pathogenic	20145306	Exon 5		Yes
LDLR_0955	c.798T>A	p.Asp266Glu	LDLR	208	SNV	Missense	Pathogenic	10657581, 11139254, 11196104, Show More >>	Exon 5	Cardiovascular disease, Corneal arcus, cardiovascular disease, Coronary artery disease, Xanthomas	Yes
LDLR_0956	c.799G>T	p.Glu267*	LDLR	5	SNV	Nonsense	Pathogenic	28502495, 33994402	Exon 5		No
LDLR_0957	c.800A>C	p.Glu267Ala	LDLR	13	SNV	Missense	Pathogenic	11668640, 15241806, 16627557, Show More >>	Exon 5		Yes
LDLR_0958	c.801A>T	p.Glu267Asp	LDLR	1	SNV	Missense	Likely Pathogenic	16250003	Exon 5		Yes
LDLR_0959	c.806G>A	p.Gly269Asp	LDLR	1	SNV	Missense	Benign	28145427	Exon 5		Yes
LDLR_0961	c.808T>A	p.Cys270Ser	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 5		Yes
LDLR_0960	c.808T>C	p.Cys270Arg	LDLR	3	SNV	Missense	Uncertain Significance	11524740, 22698793, 34297352	Exon 5		Yes
LDLR_0962	c.809G>A	p.Cys270Tyr	LDLR	6	SNV	Missense	Likely Pathogenic	1301956, 15637307, 19026292, Show More >>	Exon 5	Xanthomas	Yes
LDLR_0964	c.810C>A	p.Cys270*	LDLR	6	SNV	Nonsense	Pathogenic	15701167, 16250003, 31491741, Show More >>	Exon 5		Yes
LDLR_0963	c.810C>T	p.Cys270=	LDLR	2	SNV	Silent	Uncertain Significance	23815734	Exon 5		Yes
LDLR_0965	c.811G>A	p.Val271Ile	LDLR	4	SNV	Missense	Uncertain Significance	26036859, 33994402, 34573395	Exon 5		Yes
LDLR_0966	c.814A>T	p.Asn272Tyr	LDLR	1	SNV	Missense	Uncertain Significance	35999587	Exon 5		No
LDLR_0967	c.814_817del	p.Asn272*	LDLR	2	Deletion	Frameshift	Pathogenic	16250003, 16792510	Exon 5		Yes
LDLR_0968	c.815A>C	p.Asn272Thr	LDLR	4	SNV	Missense	Uncertain Significance	22698793, 23130880, 28965616	Exon 5		Yes
LDLR_0970	c.817+1G>C	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	32759540	Intron 5		Yes
LDLR_0969	c.817+1G>A	Intronic	LDLR	19	SNV	Splice donor	Pathogenic	23680767, 26875521, 28235710, Show More >>	Intron 5		Yes
LDLR_0971	c.817+6C>T	Intronic	LDLR	1	SNV	Splice region	Uncertain Significance	35626767	Intron 5		Yes
LDLR_0972	c.818-3C>G	Intronic	LDLR	1	SNV	Splice region	Pathogenic	28169869	Intron 5		Yes
LDLR_0973	c.818-2A>G	Intronic	LDLR	6	SNV	Splice acceptor	Pathogenic	17765246, 20828696, 27206941, Show More >>	Intron 5	Corneal arcus, xanthomas, peripheral vascular disease	Yes
LDLR_0974	c.818-1G>A	Intronic	LDLR	6	SNV	Splice acceptor	Pathogenic	16389549, 17935672, 32829317	Intron 5	Xanthomas, coronary artery disease, peripheral vascular disease	Yes
LDLR_0976	c.820del	p.Thr274Hisfs*96	LDLR	6	Deletion	Frameshift	Pathogenic	19026292, 27765764	Exon 6		Yes
LDLR_0975	c.820A>T	p.Thr274Ser	LDLR	1	SNV	Missense	Uncertain Significance	11196104	Exon 6		Yes
LDLR_0977	c.820_827del	p.Thr274Argfs*24	LDLR	1	Deletion	Frameshift	Pathogenic	15241806	Exon 6		No
LDLR_0978	c.825_826del	p.Cys276Argfs*24	LDLR	2	Deletion	Frameshift	Pathogenic	12052488, 33418990, 9698020	Exon 6		No
LDLR_0979	c.826T>A	p.Cys276Ser	LDLR	1	SNV	Missense	Likely Pathogenic	25647241	Exon 6		No
LDLR_0980	c.826T>C	p.Cys276Arg	LDLR	10	SNV	Missense	Likely Pathogenic	10978268, 23375686, 33794673	Exon 6		Yes
LDLR_0981	c.826T>G	p.Cys276Gly	LDLR	6	SNV	Missense	Likely Pathogenic	15241806, 18096825, 19446849, Show More >>	Exon 6		Yes
LDLR_0983	c.827G>T	p.Cys276Phe	LDLR	1	SNV	Missense	Likely Pathogenic	26361156	Exon 6		No
LDLR_0982	c.827G>A	p.Cys276Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	36229885	Exon 6	Xanthomas	Yes
LDLR_0985	c.828C>G	p.Cys276Trp	LDLR	9	SNV	Missense	Likely Pathogenic	10634824, 10978268, 15637307, Show More >>	Exon 6		Yes
LDLR_0984	c.828C>A	p.Cys276*	LDLR	14	SNV	Nonsense	Pathogenic	10790219, 15241806, 17347910, Show More >>	Exon 6		Yes
LDLR_0986	c.828del	p.Cys276Trpfs*94	LDLR	1	Deletion	Frameshift	Pathogenic	15199436	Exon 6		No
LDLR_0988	c.829G>A	p.Glu277Lys	LDLR	1	SNV	Missense	Likely Benign	18096825	Exon 6		Yes
LDLR_0987	c.829G>T	p.Glu277*	LDLR	1	SNV	Nonsense	Pathogenic	28964736	Exon 6		Yes
LDLR_0989	c.833G>A	p.Gly278Glu	LDLR	1	SNV	Missense	Uncertain Significance	36499307	Exon 6		Yes
LDLR_0990	c.834del	p.Asn280Thrfs*90	LDLR	1	Deletion	Frameshift	Pathogenic	38003014	Exon 6		No
LDLR_0991	c.837dup	p.Asn280Glnfs*21	LDLR	1	Duplication	Frameshift	Pathogenic	38003014	Exon 6	Xanthomas	No
LDLR_0992	c.839_848dup	p.Cys284Glnfs*20	LDLR	1	Duplication	Frameshift	Pathogenic	28964736	Exon 6		No
LDLR_0993	c.845T>C	p.Phe282Ser	LDLR	2	SNV	Missense	Likely Pathogenic	27578117	Exon 6		Yes
LDLR_0994	c.846C>A	p.Phe282Leu	LDLR	9	SNV	Missense	Likely Pathogenic	22698793, 26666465, 29870584, Show More >>	Exon 6		Yes
LDLR_0997	c.850T>C	p.Cys284Arg	LDLR	8	SNV	Missense	Likely Pathogenic	11310584	Exon 6	Xanthomas	Yes
LDLR_0995	c.850T>G	p.Cys284Gly	LDLR	1	SNV	Missense	Likely Pathogenic	16250003	Exon 6		Yes
LDLR_0996	c.850T>A	p.Cys284Ser	LDLR	1	SNV	Missense	Likely Pathogenic	15556094	Exon 6		Yes
LDLR_0998	c.851G>C	p.Cys284Ser	LDLR	1	SNV	Missense	Likely Pathogenic	15556094	Exon 6		Yes
LDLR_0999	c.853C>T	p.His285Tyr	LDLR	1	SNV	Missense	Uncertain Significance	25461735	Exon 6		Yes
LDLR_1000	c.858C>A	p.Ser286Arg	LDLR	271	SNV	Missense	Pathogenic	11317361, 11462246, 11810272, Show More >>	Exon 6	Cardiovascular disease, Xanthomas, cardiovascular disease, myocardial infarction	Yes
LDLR_1001	c.859G>A	p.Gly287Ser	LDLR	2	SNV	Missense	Likely Pathogenic	23669246, 34182004	Exon 6		Yes
LDLR_1002	c.859G>T	p.Gly287Cys	LDLR	11	SNV	Missense	Likely Pathogenic	12730724, 17196209, 22669020, Show More >>	Exon 6	Corneal arcus, xanthomas, coronary artery disease, metabolic phenotype, Xanthomas, coronary artery disease	Yes
LDLR_1003	c.862G>T	p.Glu288*	LDLR	20	SNV	Nonsense	Pathogenic	10978268, 16343504, 19446849, Show More >>	Exon 6	Xanthomas	Yes
LDLR_1004	c.862G>A	p.Glu288Lys	LDLR	34	SNV	Missense	Likely Pathogenic	10090484, 11810272, 11857755, Show More >>	Exon 6		Yes
LDLR_1006	c.865T>C	p.Cys289Arg	LDLR	1	SNV	Missense	Uncertain Significance	16314194	Exon 6		Yes
LDLR_1005	c.865del	p.Cys289Alafs*81	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 6		Yes
LDLR_1007	c.869T>G	p.Ile290Ser	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 6		Yes
LDLR_1008	c.874del	p.Leu292Trpfs*78	LDLR	2	Deletion	Frameshift	Pathogenic	15241806	Exon 6		No
LDLR_1009	c.875dup	p.Asp293Glyfs*8	LDLR	2	Duplication	Frameshift	Pathogenic	20809525	Exon 6		Yes
LDLR_1010	c.877dup	p.Asp293Glyfs*8	LDLR	2	Duplication	Frameshift	Pathogenic	31153816	Exon 6		No
LDLR_1011	c.877del	p.Asp293Thrfs*77	LDLR	7	Deletion	Frameshift	Pathogenic	11810272, 7616128, 9157944, Show More >>	Exon 6		No
LDLR_1013	c.880A>G	p.Lys294Glu	LDLR	2	SNV	Missense	Uncertain Significance	11810272, 21382890	Exon 6		Yes
LDLR_1012	c.880A>T	p.Lys294*	LDLR	1	SNV	Nonsense	Pathogenic	30270083	Exon 6		No
LDLR_1014	c.881_882del	p.Lys294Serfs*6	LDLR	2	Deletion	Frameshift	Pathogenic	11524740, 22698793	Exon 6		No
LDLR_1015	c.882del	p.Val295Serfs*75	LDLR	1	Deletion	Frameshift	Pathogenic	18096825	Exon 6		No
LDLR_1017	c.883del	p.Val295Serfs*75	LDLR	1	Deletion	Frameshift	Pathogenic	18096825	Exon 6		Yes
LDLR_1016	c.883G>T	p.Val295Phe	LDLR	1	SNV	Missense	Uncertain Significance	18718593	Exon 6		No
LDLR_1018	c.884del	p.Val295Alafs*75	LDLR	13	Deletion	Frameshift	Pathogenic	11668640, 15241806, 16627557, Show More >>	Exon 6		Yes
LDLR_1019	c.886T>A	p.Cys296Ser	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 6		No
LDLR_1021	c.887G>A	p.Cys296Tyr	LDLR	5	SNV	Missense	Uncertain Significance	20809525, 21722902, 23375686, Show More >>	Exon 6		Yes
LDLR_1020	c.887G>C	p.Cys296Ser	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 6		Yes
LDLR_1022	c.887_888delinsAA	p.Cys296*	LDLR	1	Delins	Nonsense	Pathogenic	27206942	Exon 6	Xanthomas
LDLR_1024	c.887_889delinsAGC	p.Cys296_Asn297delins*	LDLR	1	Delins	Nonsense	Pathogenic	15556092	Exon 6		Yes
LDLR_1023	c.887_889delinsAGC	p.Cys296*	LDLR	1	Delins	Nonsense	Pathogenic	21457052	Exon 6	Coronary artery disease, myocardial infarction
LDLR_1025	c.888C>A	p.Cys296*	LDLR	27	SNV	Nonsense	Pathogenic	12052488, 25014035, 31491741, Show More >>	Exon 6	Xanthomas	Yes
LDLR_1026	c.889A>C	p.Asn297His	LDLR	1	SNV	Missense	Likely Pathogenic	16250003	Exon 6		Yes
LDLR_1027	c.890A>G	p.Asn297Ser	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 6		Yes
LDLR_1028	c.890A>C	p.Asn297Thr	LDLR	3	SNV	Missense	Conflict	28475941, 28645073	Exon 6	Xanthomas, cardiovascular disease	Yes
LDLR_1030	c.892A>G	p.Met298Val	LDLR	1	SNV	Missense	Uncertain Significance	30293936	Exon 6		Yes
LDLR_1029	c.892del	p.Met298Trpfs*72	LDLR	2	Deletion	Frameshift	Pathogenic	28645073	Exon 6	Xanthomas, cardiovascular disease	No
LDLR_1031	c.895G>T	p.Ala299Ser	LDLR	7	SNV	Missense	Likely Pathogenic	18096825	Exon 6		Yes
LDLR_1032	c.895G>A	p.Ala299Thr	LDLR	1	SNV	Missense	Likely Pathogenic	21990180	Exon 6		Yes
LDLR_1033	c.896del	p.Ala299Valfs*71	LDLR	2	Deletion	Frameshift	Pathogenic	11524740, 22698793	Exon 6		Yes
LDLR_1035	c.898A>T	p.Arg300*	LDLR	1	SNV	Nonsense	Pathogenic	23669246	Exon 6		Yes
LDLR_1034	c.898A>G	p.Arg300Gly	LDLR	8	SNV	Missense	Likely Pathogenic	19446849, 23375686, 27578128, Show More >>	Exon 6		Yes
LDLR_1036	c.901G>T	p.Asp301Tyr	LDLR	34	SNV	Missense	Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 6	Xanthomas	Yes
LDLR_1037	c.901G>A	p.Asp301Asn	LDLR	2	SNV	Missense	Likely Pathogenic	30016271	Exon 6	Peripheral vascular disease	No
LDLR_1038	c.902A>G	p.Asp301Gly	LDLR	20	SNV	Missense	Pathogenic	10421221, 11600564, 11668640, Show More >>	Exon 6	Xanthomas, valvular heart disease	Yes
LDLR_1039	c.902A>C	p.Asp301Ala	LDLR	2	SNV	Missense	Likely Pathogenic	17094996, 7426196, 9026534	Exon 6		Yes
LDLR_1040	c.904T>G	p.Cys302Gly	LDLR	1	SNV	Missense	Likely Pathogenic	36184534	Exon 6		Yes
LDLR_1043	c.905G>A	p.Cys302Tyr	LDLR	2	SNV	Missense	Uncertain Significance	10206683, 15241806	Exon 6		Yes
LDLR_1041	c.905G>T	p.Cys302Phe	LDLR	5	SNV	Missense	Uncertain Significance	26802169, 29870584, 33418990, Show More >>	Exon 6		Yes
LDLR_1042	c.905del	p.Cys302Serfs*68	LDLR	1	Deletion	Frameshift	Pathogenic	27765764	Exon 6		Yes
LDLR_1044	c.906C>A	p.Cys302*	LDLR	1	SNV	Nonsense	Pathogenic	28965616	Exon 6		Yes
LDLR_1045	c.906C>G	p.Cys302Trp	LDLR	7	SNV	Missense	Likely Pathogenic	17643240, 18239150, 23680767, Show More >>	Exon 6	Coronary artery disease, Xanthomas, coronary artery disease, cabg	Yes
LDLR_1046	c.907C>T	p.Arg303Trp	LDLR	7	SNV	Missense	Uncertain Significance	28965616, 33955087, 35741760, Show More >>	Exon 6		Yes
LDLR_1047	c.908G>A	p.Arg303Gln	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 6		Yes
LDLR_1052	c.910dup	p.Asp304Glyfs*5	LDLR	1	Duplication	Frameshift	Pathogenic	31993549	Exon 6		No
LDLR_1050	c.910G>T	p.Asp304Tyr	LDLR	6	SNV	Missense	Likely Pathogenic	1301940, 14512370, 18503695, Show More >>	Exon 6		Yes
LDLR_1051	c.910G>A	p.Asp304Asn	LDLR	12	SNV	Missense	Likely Pathogenic	11810272, 11845603, 12436241, Show More >>	Exon 6	Xanthelasmas, xanthomas, Xanthomas, valvular heart disease	Yes
LDLR_1049	c.910G>C	p.Asp304His	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 6		Yes
LDLR_1048	c.910del	p.Asp304Thrfs*66	LDLR	1	Deletion	Frameshift	Pathogenic	31993549	Exon 6		No
LDLR_1054	c.911del	p.Asp304Alafs*66	LDLR	1	Deletion	Frameshift	Pathogenic	31993549	Exon 6		No
LDLR_1053	c.911A>T	p.Asp304Val	LDLR	1	SNV	Missense	Likely Pathogenic	16792510	Exon 6		Yes
LDLR_1055	c.912C>G	p.Asp304Glu	LDLR	8	SNV	Missense	Likely Pathogenic	11313767, 1301956, 17094996, Show More >>	Exon 6	Xanthomas, cardiovascular disease	Yes
LDLR_1056	c.913T>G	p.Trp305Gly	LDLR	2	SNV	Missense	Likely Pathogenic	33955087	Exon 6		No
LDLR_1057	c.914G>C	p.Trp305Ser	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 6		Yes
LDLR_1058	c.914G>A	p.Trp305*	LDLR	1	SNV	Nonsense	Pathogenic	20145306	Exon 6		Yes
LDLR_1060	c.915G>C	p.Trp305Cys	LDLR	2	SNV	Missense	Likely Pathogenic	16250003, 16792510	Exon 6		Yes
LDLR_1059	c.915G>A	p.Trp305*	LDLR	2	SNV	Nonsense	Pathogenic	14974088, 7573037	Exon 6	Xanthomas	Yes
LDLR_1061	c.916_919dup	p.Asp307Valfs*3	LDLR	8	Duplication	Frameshift	Pathogenic	15241806, 27578128, 27784735	Exon 6		No
LDLR_1062	c.917C>T	p.Ser306Leu	LDLR	510	SNV	Missense	Pathogenic	10532689, 10735632, 11462246, Show More >>	Exon 6	Valvular heart disease	Yes
LDLR_1063	c.917C>G	p.Ser306*	LDLR	6	SNV	Nonsense	Pathogenic	22698793	Exon 6		Yes
LDLR_1064	c.917C>A	p.Ser306*	LDLR	1	SNV	Nonsense	Pathogenic	15015036	Exon 6		Yes
LDLR_1066	c.919G>C	p.Asp307His	LDLR	1	SNV	Missense	Likely Pathogenic	17094996	Exon 6		Yes
LDLR_1065	c.919G>A	p.Asp307Asn	LDLR	27	SNV	Missense	Likely Pathogenic	22698793, 30016271, 32706999, Show More >>	Exon 6	Peripheral vascular disease, Xanthomas	Yes
LDLR_1067	c.920A>G	p.Asp307Gly	LDLR	4	SNV	Missense	Likely Pathogenic	18096825, 28502510	Exon 6	Xanthomas, Xanthomas, cardiovascular disease	Yes
LDLR_1068	c.920A>C	p.Asp307Ala	LDLR	1	SNV	Missense	Likely Pathogenic	28965616	Exon 6		Yes
LDLR_1069	c.921T>A	p.Asp307Glu	LDLR	1	SNV	Missense	Likely Pathogenic	33418990	Exon 6		No
LDLR_1070	c.921_922insCAGT	p.Glu308Glnfs*2	LDLR	2	Insertion	Frameshift	Pathogenic	11600564, 11668640, 14508510, Show More >>	Exon 6		No
LDLR_1071	c.922G>A	p.Glu308Lys	LDLR	7	SNV	Missense	Uncertain Significance	16792510, 20145306, 21382890, Show More >>	Exon 6		Yes
LDLR_1072	c.924del	p.Glu308Aspfs*62	LDLR	1	Deletion	Frameshift	Pathogenic	11600564	Exon 6		No
LDLR_1073	c.925_931del	p.Pro309Lysfs*59	LDLR	387	Deletion	Frameshift	Pathogenic	12052488, 15701167, 1634609, Show More >>	Exon 6		No
LDLR_1074	c.925_935del	p.Pro309Valfs*19	LDLR	1	Deletion	Frameshift	Pathogenic	39131706	Exon 6		No
LDLR_1075	c.926C>A	p.Pro309His	LDLR	2	SNV	Missense	Likely Pathogenic	28965616, 31106925	Exon 6		Yes
LDLR_1076	c.928A>T	p.Ile310Phe	LDLR	1	SNV	Missense	Uncertain Significance	30971288	Exon 6		Yes
LDLR_1077	c.929T>C	p.Ile310Thr	LDLR	4	SNV	Missense	Uncertain Significance	11668640, 16627557, 18279815	Exon 6		Yes
LDLR_1078	c.932A>C	p.Lys311Thr	LDLR	1	SNV	Missense	Uncertain Significance	15556094	Exon 6		Yes
LDLR_1079	c.932A>G	p.Lys311Arg	LDLR	65	SNV	Missense	Uncertain Significance	34176852, 11257257, 11472754, Show More >>	Exon 6		Yes
LDLR_1080	c.932_933del	p.Lys311Argfs*20	LDLR	3	Deletion	Frameshift	Pathogenic	11313767, 9259195, 9727746	Exon 6		No
LDLR_1081	c.933del	p.Glu312Serfs*58	LDLR	12	Deletion	Frameshift	Pathogenic	10559517, 16159606, 16389549	Exon 6		No
LDLR_1082	c.934del	p.Glu312Serfs*58	LDLR	1	Deletion	Frameshift	Pathogenic	21310417	Exon 6		No
LDLR_1083	c.934G>T	p.Glu312*	LDLR	1	SNV	Nonsense	Pathogenic	15241806	Exon 6		Yes
LDLR_1084	c.935A>G	p.Glu312Gly	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 6		Yes
LDLR_1085	c.938G>A	p.Cys313Tyr	LDLR	16	SNV	Missense	Uncertain Significance	11040093, 11810272, 11857755, Show More >>	Exon 6		Yes
LDLR_1086	c.939C>A	p.Cys313*	LDLR	27	SNV	Nonsense	Pathogenic	17094996, 17142622, 18206115, Show More >>	Exon 6	Xanthomas	Yes
LDLR_1087	c.939C>G	p.Cys313Trp	LDLR	59	SNV	Missense	Uncertain Significance	11257257, 11472754, 11737238, Show More >>	Exon 6		Yes
LDLR_1088	c.939_940+3del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	15701167	Exon 6		No
LDLR_1089	c.940G>A	p.Gly314Arg	LDLR	6	SNV	Missense	Uncertain Significance	17347910, 28104544, 28349888, Show More >>	Exon 6		Yes
LDLR_1090	c.940_940+14del	Intronic	LDLR	9	Deletion	Splice donor	Pathogenic	24785115, 28379029, 31213876, Show More >>	Exon 6		No
LDLR_1091	c.940+1G>C	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	20809525	Intron 6		Yes
LDLR_1092	c.940+1G>A	Intronic	LDLR	7	SNV	Splice donor	Pathogenic	20809525, 28502495, 33994402	Intron 6		Yes
LDLR_1094	c.940+2T>C	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	19208450, 29572815	Intron 6		Yes
LDLR_1093	c.940+2T>A	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	20809525	Intron 6		Yes
LDLR_1095	c.940+2T>G	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	33955087	Intron 6		Yes
LDLR_1096	c.940+3_940+6del	Intronic	LDLR	6	Deletion	Splice region	Uncertain Significance	32423031, 33418990	Intron 6	Coronary artery disease, cabg, myocardial infarction, peripheral vascular disease	No
LDLR_1097	c.940+14del	Intronic	LDLR	1	Deletion	Intronic	Uncertain Significance	20809525	Intron 6		Yes
LDLR_1098	c.940+16G>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20145306	Intron 6		Yes
LDLR_1099	c.940+36G>A	Intronic	LDLR	1	SNV	Intronic	Benign	28873201	Intron 6		Yes
LDLR_1100	c.940+793_940+795dup	Intronic	LDLR	1	Duplication	Intronic	Benign		Intron 6		No
LDLR_1101	c.941-149C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	12436241	Intron 6		No
LDLR_1102	c.941-148A>G	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 6		No
LDLR_1103	c.941-39C>T	Intronic	LDLR	1	SNV	Intronic	Benign	18096825	Intron 6		Yes
LDLR_1104	c.941-38C>T	Intronic	LDLR	2	SNV	Intronic	Uncertain Significance	23815734	Intron 6		Yes
LDLR_1105	c.941-22T>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	24284361	Intron 6		No
LDLR_1106	c.941-14dup	Intronic	LDLR	1	Duplication	Intronic	Uncertain Significance	12052488	Intron 6		No
LDLR_1107	c.941-13T>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20145306	Intron 6		Yes
LDLR_1108	c.941-12G>A	Intronic	LDLR	3	SNV	Intronic	Uncertain Significance	20809525	Intron 6		Yes
LDLR_1109	c.941-4G>A	Intronic	LDLR	1	SNV	Splice region	Benign	28145427	Intron 6		Yes
LDLR_1110	c.941-3C>G	Intronic	LDLR	2	SNV	Splice region	Uncertain Significance	33418990	Intron 6		Yes
LDLR_1111	c.941-2A>G	Intronic	LDLR	4	SNV	Splice acceptor	Pathogenic	12436241, 25962062, 33418990, Show More >>	Intron 6		Yes
LDLR_1112	c.941-2A>C	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	20145306, 31893465	Intron 6		Yes
LDLR_1113	c.941-1G>A	Intronic	LDLR	5	SNV	Splice acceptor	Pathogenic	15359125, 34456200	Intron 6		Yes
LDLR_1114	c.946A>C	p.Asn316His	LDLR	1	SNV	Missense	Likely Pathogenic	29974534	Exon 7		No
LDLR_1115	c.946A>G	p.Asn316Asp	LDLR	1	SNV	Missense	Uncertain Significance	25023731	Exon 7		No
LDLR_1116	c.946_994del	p.Asn316Leufs*38	LDLR	3	Deletion	Frameshift	Pathogenic	11916007	Exon 7		No
LDLR_1119	c.947A>G	p.Asn316Ser	LDLR	7	SNV	Missense	Likely Pathogenic	20538126, 21376320, 28502495, Show More >>	Exon 7		Yes
LDLR_1118	c.947A>C	p.Asn316Thr	LDLR	1	SNV	Missense	Likely Pathogenic	22698793	Exon 7		Yes
LDLR_1117	c.947del	p.Asn316Thrfs*54	LDLR	1	Deletion	Frameshift	Pathogenic	29261184	Exon 7		No
LDLR_1120	c.948del	p.Asn316Lysfs*54	LDLR	1	Deletion	Frameshift	Pathogenic	23680767	Exon 7		Yes
LDLR_1123	c.949dup	p.Glu317Glyfs*15	LDLR	1	Duplication	Frameshift	Pathogenic	25461735	Exon 7		Yes
LDLR_1121	c.949G>T	p.Glu317*	LDLR	8	SNV	Nonsense	Pathogenic	11295843, 11462246, 14974088, Show More >>	Exon 7		Yes
LDLR_1122	c.949G>A	p.Glu317Lys	LDLR	4	SNV	Missense	Uncertain Significance	20145306, 32522009, 33418990	Exon 7		Yes
LDLR_1125	c.950A>G	p.Glu317Gly	LDLR	1	SNV	Missense	Uncertain Significance	15494314	Exon 7		No
LDLR_1124	c.950A>C	p.Glu317Ala	LDLR	1	SNV	Missense	Likely Pathogenic	17452316	Exon 7		No
LDLR_1126	c.951del	p.Glu317Aspfs*53	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 7		No
LDLR_1127	c.952T>C	p.Cys318Arg	LDLR	4	SNV	Missense	Likely Pathogenic	10978268, 23375686	Exon 7		Yes
LDLR_1129	c.953G>A	p.Cys318Tyr	LDLR	2	SNV	Missense	Likely Pathogenic	1301956, 23375686	Exon 7		Yes
LDLR_1128	c.953G>T	p.Cys318Phe	LDLR	53	SNV	Missense	Likely Pathogenic	10978268, 11317362, 15241806, Show More >>	Exon 7		Yes
LDLR_1130	c.954C>G	p.Cys318Trp	LDLR	2	SNV	Missense	Likely Pathogenic	33418990	Exon 7		No
LDLR_1131	c.956T>A	p.Leu319*	LDLR	1	SNV	Nonsense	Pathogenic	34456200	Exon 7		No
LDLR_1132	c.958G>A	p.Asp320Asn	LDLR	1	SNV	Missense	Uncertain Significance	25023731	Exon 7		No
LDLR_1133	c.959A>T	p.Asp320Val	LDLR	1	SNV	Missense	Uncertain Significance	32705598	Exon 7		No
LDLR_1134	c.961_962del	p.Asn321Glnfs*10	LDLR	1	Deletion	Frameshift	Pathogenic	15199436	Exon 7		Yes
LDLR_1135	c.962del	p.Asn321Thrfs*49	LDLR	1	Deletion	Frameshift	Pathogenic	19026292	Exon 7		No
LDLR_1136	c.964_966del	p.Asn322del	LDLR	1	Deletion	Deletion	Uncertain Significance	20809525	Exon 7		No
LDLR_1137	c.965A>T	p.Asn322Ile	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 7		Yes
LDLR_1138	c.966C>T	p.Asn322=	LDLR	1	SNV	Silent	Uncertain Significance	26927322	Exon 7		Yes
LDLR_1139	c.967G>A	p.Gly323Ser	LDLR	1	SNV	Missense	Uncertain Significance	34176852	Exon 7		Yes
LDLR_1140	c.969del	p.Gly324Alafs*46	LDLR	1	Deletion	Frameshift	Pathogenic	16083882	Exon 7		Yes
LDLR_1142	c.970G>T	p.Gly324Cys	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 7		Yes
LDLR_1141	c.970G>A	p.Gly324Ser	LDLR	1	SNV	Missense	Benign	21722902	Exon 7		Yes
LDLR_1143	c.971del	p.Gly324Alafs*46	LDLR	5	Deletion	Frameshift	Pathogenic	11524740, 22698793, 27824480, Show More >>	Exon 7	Xanthomas	No
LDLR_1144	c.972C>G	p.Gly324=	LDLR	1	SNV	Silent	Uncertain Significance	26361156	Exon 7		No
LDLR_1145	c.974G>A	p.Cys325Tyr	LDLR	9	SNV	Missense	Likely Pathogenic	21865347, 31491741, 31947532, Show More >>	Exon 7		Yes
LDLR_1146	c.974G>T	p.Cys325Phe	LDLR	1	SNV	Missense	Likely Pathogenic	26802169	Exon 7		Yes
LDLR_1147	c.976T>C	p.Ser326Pro	LDLR	2	SNV	Missense	Likely Pathogenic	33418990, 34074024	Exon 7		Yes
LDLR_1149	c.977C>G	p.Ser326Cys	LDLR	13	SNV	Missense	Pathogenic	12131916, 22698793, 23375686, Show More >>	Exon 7	Angina, coronary artery disease	Yes
LDLR_1148	c.977C>T	p.Ser326Phe	LDLR	2	SNV	Missense	Likely Pathogenic	11668640, 16627557	Exon 7		Yes
LDLR_1150	c.979C>T	p.His327Tyr	LDLR	10	SNV	Missense	Likely Pathogenic	10208479, 11313767, 11810272, Show More >>	Exon 7		Yes
LDLR_1151	c.979del	p.His327Thrfs*43	LDLR	1	Deletion	Frameshift	Pathogenic	33519890	Exon 7		No
LDLR_1152	c.980dup	p.His327Glnfs*5	LDLR	12	Duplication	Frameshift	Pathogenic	21145767, 27247956, 28502510	Exon 7		Yes
LDLR_1153	c.983T>A	p.Val328Asp	LDLR	1	SNV	Missense	Uncertain Significance	25023731	Exon 7		No
LDLR_1155	c.985T>C	p.Cys329Arg	LDLR	1	SNV	Missense	Likely Pathogenic	28964736	Exon 7		Yes
LDLR_1154	c.985T>G	p.Cys329Gly	LDLR	7	SNV	Missense	Likely Pathogenic	12436241, 16466730, 29353225, Show More >>	Exon 7		Yes
LDLR_1156	c.986G>A	p.Cys329Tyr	LDLR	266	SNV	Missense	Pathogenic	11005141, 11810272, 12837857, Show More >>	Exon 7	Angina, cardiovascular disease, coronary artery disease, myocardial infarction, Show More >>	Yes
LDLR_1157	c.986G>T	p.Cys329Phe	LDLR	12	SNV	Missense	Likely Pathogenic	22160468, 26892515	Exon 7	Corneal arcus, xanthomas	Yes
LDLR_1158	c.987C>A	p.Cys329*	LDLR	1	SNV	Nonsense	Pathogenic	28475941	Exon 7		Yes
LDLR_1159	c.988A>C	p.Asn330His	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 7		Yes
LDLR_1160	c.990T>A	p.Asn330Lys	LDLR	1	SNV	Missense	Uncertain Significance	24103783	Exon 7		Yes
LDLR_1161	c.990_991insA	p.Asp331Argfs*3	LDLR	1	Insertion	Frameshift	Pathogenic	32331935	Exon 7		No
LDLR_1162	c.991G>A	p.Asp331Asn	LDLR	1	SNV	Missense	Uncertain Significance	25023731	Exon 7		No
LDLR_1163	c.992A>C	p.Asp331Ala	LDLR	1	SNV	Missense	Likely Pathogenic	17452316	Exon 7		No
LDLR_1164	c.993C>T	p.Asp331=	LDLR	1	SNV	Silent	Benign	35626767	Exon 7		Yes
LDLR_1165	c.1003G>T	p.Gly335Cys	LDLR	2	SNV	Missense	Likely Pathogenic	34970301	Exon 7	Corneal arcus, xanthomas, coronary artery disease, valvular heart disease	Yes
LDLR_1166	c.1003G>A	p.Gly335Ser	LDLR	17	SNV	Missense	Likely Pathogenic	11668627, 1301956, 15556094, Show More >>	Exon 7	Xanthelasmas, xanthomas, Xanthomas	Yes
LDLR_1167	c.1004G>T	p.Gly335Val	LDLR	6	SNV	Missense	Likely Pathogenic	10735632, 11810272, 21382890, Show More >>	Exon 7		Yes
LDLR_1168	c.1007A>G	p.Tyr336Cys	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 7		Yes
LDLR_1169	c.1008del	p.Tyr336*	LDLR	4	Deletion	Nonsense	Pathogenic	20809525, 38695169	Exon 7		Yes
LDLR_1170	c.1009G>A	p.Glu337Lys	LDLR	4	SNV	Missense	Uncertain Significance	28964736, 29353225, 29396260, Show More >>	Exon 7	Coronary artery disease, cabg, metabolic phenotype, myocardial infarction	Yes
LDLR_1171	c.1009G>T	p.Glu337*	LDLR	1	SNV	Nonsense	Pathogenic	37565868	Exon 7	Xanthomas	No
LDLR_1172	c.1009_1032del	p.Glu337_Phe344del	LDLR	1	Deletion	Deletion	Uncertain Significance	9409298, 9544745	Exon 7		No
LDLR_1173	c.1010A>G	p.Glu337Gly	LDLR	3	SNV	Missense	Uncertain Significance	31491741, 32331935	Exon 7		Yes
LDLR_1176	c.1012T>A	p.Cys338Ser	LDLR	136	SNV	Missense	Pathogenic	34176852, 10447263, 15241806, Show More >>	Exon 7	Xanthomas, Xanthomas, coronary artery disease, Xanthomas, coronary artery disease, myocardial infarction	Yes
LDLR_1175	c.1012T>C	p.Cys338Arg	LDLR	2	SNV	Missense	Likely Pathogenic	18718593	Exon 7	Xanthomas, coronary artery disease	Yes
LDLR_1174	c.1012T>G	p.Cys338Gly	LDLR	7	SNV	Missense	Likely Pathogenic	10735632, 11810272, 21382890, Show More >>	Exon 7		Yes
LDLR_1177	c.1013G>A	p.Cys338Tyr	LDLR	5	SNV	Missense	Likely Pathogenic	10924730, 22698793	Exon 7		Yes
LDLR_1178	c.1013G>T	p.Cys338Phe	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 7		Yes
LDLR_1179	c.1014C>G	p.Cys338Trp	LDLR	2	SNV	Missense	Likely Pathogenic	33732287	Exon 7		Yes
LDLR_1181	c.1016T>G	p.Leu339Arg	LDLR	1	SNV	Missense	Uncertain Significance	24103783	Exon 7		No
LDLR_1180	c.1016T>C	p.Leu339Pro	LDLR	30	SNV	Missense	Uncertain Significance	20538126, 21376320, 28502495, Show More >>	Exon 7		Yes
LDLR_1182	c.1017dup	p.Cys340Valfs*18	LDLR	1	Duplication	Frameshift	Pathogenic	17765246	Exon 7		Yes
LDLR_1183	c.1019G>A	p.Cys340Tyr	LDLR	12	SNV	Missense	Uncertain Significance	15241806, 27824480, 35560019	Exon 7		Yes
LDLR_1184	c.1019_1020delinsTG	p.Cys340Leu	LDLR	8	Delins	Missense	Uncertain Significance	20809525, 21957200, 23535506	Exon 7	Xanthomas	Yes
LDLR_1185	c.1020C>G	p.Cys340Trp	LDLR	1	SNV	Missense	Uncertain Significance	22881376	Exon 7		Yes
LDLR_1186	c.1022C>G	p.Pro341Arg	LDLR	2	SNV	Missense	Uncertain Significance	10208479, 11313767	Exon 7		Yes
LDLR_1187	c.1023del	p.Asp342Thrfs*28	LDLR	1	Deletion	Frameshift	Pathogenic	16159606	Exon 7		No
LDLR_1188	c.1024G>T	p.Asp342Tyr	LDLR	1	SNV	Missense	Uncertain Significance	22698793	Exon 7		Yes
LDLR_1189	c.1024G>A	p.Asp342Asn	LDLR	1	SNV	Missense	Benign	27578117	Exon 7		Yes
LDLR_1190	c.1026C>G	p.Asp342Glu	LDLR	1	SNV	Missense	Uncertain Significance	1301956	Exon 7		Yes
LDLR_1192	c.1027G>A	p.Gly343Ser	LDLR	276	SNV	Missense	Pathogenic	11040093, 11810272, 11851376, Show More >>	Exon 7	Corneal arcus, xanthomas, angina, cardiovascular disease, coronary artery diseas Show More >>	Yes
LDLR_1191	c.1027G>T	p.Gly343Cys	LDLR	42	SNV	Missense	Likely Pathogenic	18757057, 20144596, 22417841, Show More >>	Exon 7	Corneal arcus, xanthelasmas, xanthomas	Yes
LDLR_1194	c.1028G>A	p.Gly343Asp	LDLR	1	SNV	Missense	Likely Pathogenic	12436241	Exon 7		Yes
LDLR_1193	c.1028G>T	p.Gly343Val	LDLR	1	SNV	Missense	Likely Pathogenic	18718593	Exon 7		Yes
LDLR_1195	c.1031del	p.Phe344Serfs*26	LDLR	3	Deletion	Frameshift	Pathogenic	20809525	Exon 7		No
LDLR_1196	c.1033C>T	p.Gln345*	LDLR	5	SNV	Nonsense	Pathogenic	17765246, 22883975, 23375686, Show More >>	Exon 7		Yes
LDLR_1197	c.1034A>C	p.Gln345Pro	LDLR	1	SNV	Missense	Uncertain Significance	23064986	Exon 7		No
LDLR_1198	c.1034dup	p.Leu346Alafs*12	LDLR	1	Duplication	Frameshift	Pathogenic	21722902	Exon 7		Yes
LDLR_1199	c.1035_1036insA	p.Leu346Thrfs*12	LDLR	1	Insertion	Frameshift	Pathogenic	21722902	Exon 7		No
LDLR_1200	c.1037del	p.Leu346Argfs*24	LDLR	1	Deletion	Frameshift	Pathogenic	28965616	Exon 7		No
LDLR_1201	c.1042del	p.Ala348Profs*22	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 7		No
LDLR_1202	c.1042_1043insA	p.Ala348Aspfs*10	LDLR	3	Insertion	Frameshift	Pathogenic	11737238, 12492446	Exon 7		Yes
LDLR_1204	c.1045C>T	p.Gln349*	LDLR	2	SNV	Nonsense	Pathogenic	11668640, 16627557	Exon 7		Yes
LDLR_1203	c.1045C>A	p.Gln349Lys	LDLR	1	SNV	Missense	Uncertain Significance	35999587	Exon 7		No
LDLR_1205	c.1045del	p.Gln349Serfs*21	LDLR	47	Deletion	Frameshift	Pathogenic	10790219, 15241806, 18096825, Show More >>	Exon 7		No
LDLR_1206	c.1046dup	p.Arg350Alafs*8	LDLR	1	Duplication	Frameshift	Pathogenic	18096825	Exon 7		Yes
LDLR_1207	c.1048C>T	p.Arg350*	LDLR	188	SNV	Nonsense	Pathogenic	34176852, 10208490, 11462246, Show More >>	Exon 7	Xanthomas	Yes
LDLR_1208	c.1049G>A	p.Arg350Gln	LDLR	1	SNV	Missense	Likely Benign	31106925	Exon 7		Yes
LDLR_1209	c.1049G>C	p.Arg350Pro	LDLR	8	SNV	Missense	Pathogenic	17094996, 22883975, 4039004, Show More >>	Exon 7		Yes
LDLR_1210	c.1053A>G	p.Arg351=	LDLR	1	SNV	Silent	Uncertain Significance	28470529	Exon 7		Yes
LDLR_1212	c.1054T>A	p.Cys352Ser	LDLR	7	SNV	Missense	Likely Pathogenic	21376320, 28502495, 33994402, Show More >>	Exon 7		Yes
LDLR_1211	c.1054T>C	p.Cys352Arg	LDLR	4	SNV	Missense	Likely Pathogenic	17347910, 32423031, 33418990	Exon 7	Coronary artery disease, myocardial infarction, peripheral vascular disease
LDLR_1214	c.1055G>A	p.Cys352Tyr	LDLR	16	SNV	Missense	Likely Pathogenic	1301956, 19026292, 21722902, Show More >>	Exon 7		Yes
LDLR_1213	c.1055G>T	p.Cys352Phe	LDLR	2	SNV	Missense	Likely Pathogenic	20809525, 29399563	Exon 7		Yes
LDLR_1215	c.1055_1060+5del	Intronic	LDLR	2	Deletion	Splice donor	Pathogenic	15241806, 18096825	Exon 7		No
LDLR_1218	c.1056C>G	p.Cys352Trp	LDLR	33	SNV	Missense	Pathogenic	10735632, 10978268, 11778921, Show More >>	Exon 7	Xanthomas	Yes
LDLR_1217	c.1056C>T	p.Cys352=	LDLR	1	SNV	Silent	Benign	28470529	Exon 7		Yes
LDLR_1216	c.1056C>A	p.Cys352*	LDLR	2	SNV	Nonsense	Pathogenic	34176852, 9654205	Exon 7		Yes
LDLR_1219	c.1056_1060+3del	Intronic	LDLR	5	Deletion	Splice donor	Pathogenic	16389549, 32220565, 34029164, Show More >>	Exon 7	Xanthomas, coronary artery disease	No
LDLR_1220	c.1057G>A	p.Glu353Lys	LDLR	6	SNV	Missense	Uncertain Significance	11810272, 28502495, 34998859	Exon 7		Yes
LDLR_1221	c.1058A>G	p.Glu353Gly	LDLR	1	SNV	Missense	Uncertain Significance	24103783	Exon 7		No
LDLR_1222	c.1059A>G	p.Glu353=	LDLR	1	SNV	Silent	Uncertain Significance	28470529	Exon 7		No
LDLR_1223	c.1060G>A	p.Asp354Asn	LDLR	2	SNV	Missense	Likely Pathogenic	29353225, 32331935	Exon 7		Yes
LDLR_1226	c.1060+1G>C	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	18239150	Intron 7	Coronary artery disease, myocardial infarction, valvular heart disease	No
LDLR_1224	c.1060+1G>A	Intronic	LDLR	4	SNV	Splice donor	Pathogenic	17765246, 20828696, 38122934	Intron 7		Yes
LDLR_1225	c.1060+1G>T	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	28964736	Intron 7		Yes
LDLR_1227	c.1060+2T>C	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	33994402	Intron 7		No
LDLR_1228	c.1060+2T>G	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	27765764	Intron 7		Yes
LDLR_1230	c.1060+10G>A	Intronic	LDLR	8	SNV	Intronic	Uncertain Significance	12436241, 16542394, 23375686, Show More >>	Intron 7		Yes
LDLR_1229	c.1060+10G>C	Intronic	LDLR	1	SNV	Intronic	Benign	20428891	Intron 7		Yes
LDLR_1231	c.1060+16dup	Intronic	LDLR	1	Duplication	Intronic	Uncertain Significance	12052488	Intron 7		No
LDLR_1232	c.1060+24C>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20809525	Intron 7		Yes
LDLR_1233	c.1060+26T>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20809525	Intron 7		Yes
LDLR_1234	c.1060+39C>G	Intronic	LDLR	2	SNV	Intronic	Uncertain Significance	17347910	Intron 7		Yes
LDLR_1235	c.1060+40G>A	Intronic	LDLR	3	SNV	Intronic	Uncertain Significance	20145306	Intron 7		Yes
LDLR_1236	c.1060+59A>C	Intronic	LDLR	4	SNV	Intronic	Uncertain Significance	20145306, 23815734	Intron 7		Yes
LDLR_1237	c.1060+241_1060+242insCGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATGCGAAGGTGATTTCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGA	Intronic	LDLR	1	Insertion	Intronic	Pathogenic	33533259	Intron 7		No
LDLR_1238	c.1061-143C>T	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 7		Yes
LDLR_1239	c.1061-8T>C	Intronic	LDLR	1	SNV	Intronic	Benign	21157333	Intron 7		Yes
LDLR_1240	c.1061-2A>G	Intronic	LDLR	4	SNV	Splice acceptor	Pathogenic	11472756, 25962062	Intron 7		Yes
LDLR_1243	c.1061-1G>A	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	17539906	Intron 7		Yes
LDLR_1242	c.1061-1G>T	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	28965616, 34297352	Intron 7		Yes
LDLR_1241	c.1061-1G>C	Intronic	LDLR	6	SNV	Splice acceptor	Pathogenic	12052488, 26011648, 31704104, Show More >>	Intron 7	Xanthomas, angina, coronary artery disease	Yes
LDLR_1245	c.1061A>T	p.Asp354Val	LDLR	2	SNV	Missense	Likely Pathogenic	1301956, 32220565	Exon 8		Yes
LDLR_1246	c.1061A>C	p.Asp354Ala	LDLR	12	SNV	Missense	Likely Pathogenic	20145306, 20809525, 22698793, Show More >>	Exon 8	Valvular heart disease, cardiac rhythm disorder	Yes
LDLR_1244	c.1061A>G	p.Asp354Gly	LDLR	11	SNV	Missense	Likely Pathogenic	11810272, 1301956, 19040724, Show More >>	Exon 8		Yes
LDLR_1247	c.1062dup	p.Ile355Tyrfs*3	LDLR	8	Duplication	Frameshift	Pathogenic	34176852, 12417285, 18718593, Show More >>	Exon 8		Yes
LDLR_1248	c.1063A>G	p.Ile355Val	LDLR	7	SNV	Missense	Uncertain Significance	10735632, 11810272, 9157944	Exon 8		Yes
LDLR_1249	c.1065C>G	p.Ile355Met	LDLR	1	SNV	Missense	Uncertain Significance	28379029	Exon 8		Yes
LDLR_1251	c.1066G>T	p.Asp356Tyr	LDLR	18	SNV	Missense	Likely Pathogenic	10947889, 11851376, 16250003, Show More >>	Exon 8		Yes
LDLR_1250	c.1066G>A	p.Asp356Asn	LDLR	2	SNV	Missense	Likely Pathogenic	15998910, 20145306	Exon 8		Yes
LDLR_1252	c.1066G>C	p.Asp356His	LDLR	8	SNV	Missense	Likely Pathogenic	18718593, 20145306, 31491741, Show More >>	Exon 8	Xanthomas, coronary artery disease	Yes
LDLR_1255	c.1067del	p.Asp356Valfs*14	LDLR	9	Deletion	Frameshift	Pathogenic	10978268, 19446849, 23375686	Exon 8		Yes
LDLR_1253	c.1067A>C	p.Asp356Ala	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 8		Yes
LDLR_1254	c.1067A>T	p.Asp356Val	LDLR	3	SNV	Missense	Likely Pathogenic	30745730, 34011801	Exon 8		Yes
LDLR_1256	c.1068delinsAGAGTGTCAGGATCCCGAC	p.Ile355_Asp356insGluGluCysGlnAspPro	LDLR	11	Delins	Insertion	Likely Pathogenic	10978268, 19446849, 20846238, Show More >>	Exon 8	Xanthomas
LDLR_1257	c.1069G>A	p.Glu357Lys	LDLR	11	SNV	Missense	Uncertain Significance	10735632, 11810272, 1301956, Show More >>	Exon 8	Corneal arcus	Yes
LDLR_1258	c.1069G>T	p.Glu357*	LDLR	4	SNV	Nonsense	Pathogenic	18718593, 31491741, 32331935, Show More >>	Exon 8		No
LDLR_1259	c.1069_1086dup	p.Glu357_Asp362dup	LDLR	2	Duplication	In-frame duplication	Likely Pathogenic	9684750	Exon 8		Yes
LDLR_1260	c.1070del	p.Glu357Glyfs*13	LDLR	3	Deletion	Frameshift	Pathogenic	27816806, 32044282	Exon 8	Corneal arcus, xanthomas, Xanthomas	Yes
LDLR_1261	c.1070A>G	p.Glu357Gly	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 8		Yes
LDLR_1262	c.1070_1071dup	p.Cys358Serfs*13	LDLR	1	Duplication	Frameshift	Pathogenic	34297352	Exon 8		No
LDLR_1263	c.1070_1073dup	p.Cys358*	LDLR	2	Duplication	Nonsense	Pathogenic	16250003, 28161202	Exon 8		No
LDLR_1265	c.1072T>C	p.Cys358Arg	LDLR	5	SNV	Missense	Pathogenic	11916007, 27784735	Exon 8		Yes
LDLR_1264	c.1072T>A	p.Cys358Ser	LDLR	1	SNV	Missense	Likely Pathogenic	27596133	Exon 8		No
LDLR_1267	c.1073G>T	p.Cys358Phe	LDLR	2	SNV	Missense	Likely Pathogenic	36229885	Exon 8	Xanthomas	No
LDLR_1266	c.1073G>C	p.Cys358Ser	LDLR	9	SNV	Missense	Likely Pathogenic	35560019	Exon 8		No
LDLR_1268	c.1075C>T	p.Gln359*	LDLR	2	SNV	Nonsense	Pathogenic	23375686, 26894473	Exon 8	Xanthelasmas, xanthomas	Yes
LDLR_1269	c.1076_1081del	p.Gln359_Asp360del	LDLR	2	Deletion	Deletion	Likely Pathogenic	19446849, 23375686	Exon 8		No
LDLR_1270	c.1078G>C	p.Asp360His	LDLR	29	SNV	Missense	Uncertain Significance	23064986, 29576406, 32113782	Exon 8	Xanthomas, cardiovascular disease, valvular heart disease	Yes
LDLR_1272	c.1085A>C	p.Asp362Ala	LDLR	5	SNV	Missense	Uncertain Significance	11810272, 16542394, 27765764, Show More >>	Exon 8		Yes
LDLR_1271	c.1085del	p.Asp362Alafs*8	LDLR	6	Deletion	Frameshift	Pathogenic	11810272, 16466730, 17765246, Show More >>	Exon 8		Yes
LDLR_1273	c.1086del	p.Asp362Glufs*8	LDLR	1	Deletion	Frameshift	Pathogenic	26892515	Exon 8		No
LDLR_1274	c.1088C>A	p.Thr363Asn	LDLR	1	SNV	Missense	Uncertain Significance	26020417	Exon 8		Yes
LDLR_1275	c.1090T>C	p.Cys364Arg	LDLR	26	SNV	Missense	Pathogenic	10978268, 1301956, 15556094, Show More >>	Exon 8	Coronary artery disease, peripheral vascular disease, Xanthomas, coronary artery disease, peripheral vascular disease, cardiac rhythm disorder	Yes
LDLR_1276	c.1090del	p.Cys364Alafs*6	LDLR	1	Deletion	Frameshift	Pathogenic	29353225	Exon 8		No
LDLR_1279	c.1091G>A	p.Cys364Tyr	LDLR	11	SNV	Missense	Likely Pathogenic	27765764, 28379029, 29353225, Show More >>	Exon 8		Yes
LDLR_1278	c.1091G>T	p.Cys364Phe	LDLR	1	SNV	Missense	Likely Pathogenic	11196104	Exon 8		Yes
LDLR_1277	c.1091G>C	p.Cys364Ser	LDLR	1	SNV	Missense	Likely Pathogenic	22698793	Exon 8		Yes
LDLR_1280	c.1093A>G	p.Ser365Gly	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 8		Yes
LDLR_1281	c.1094G>A	p.Ser365Asn	LDLR	2	SNV	Missense	Uncertain Significance	16466730	Exon 8		No
LDLR_1282	c.1096C>T	p.Gln366*	LDLR	1	SNV	Nonsense	Pathogenic	17347910	Exon 8		Yes
LDLR_1283	c.1097A>G	p.Gln366Arg	LDLR	24	SNV	Missense	Likely Pathogenic	10947889, 12052488, 33955087, Show More >>	Exon 8		Yes
LDLR_1284	c.1099_1104delinsGT	p.Leu367Valfs*2	LDLR	2	Delins	Frameshift	Pathogenic	20809525	Exon 8		No
LDLR_1285	c.1099_1150del	p.Leu367Serfs*29	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 8		No
LDLR_1286	c.1102T>C	p.Cys368Arg	LDLR	21	SNV	Missense	Likely Pathogenic	12618273, 15026427, 16546193, Show More >>	Exon 8		Yes
LDLR_1287	c.1102T>G	p.Cys368Gly	LDLR	2	SNV	Missense	Likely Pathogenic	15823276	Exon 8	Corneal arcus, xanthomas, coronary artery disease, cabg	Yes
LDLR_1288	c.1103G>T	p.Cys368Phe	LDLR	2	SNV	Missense	Likely Pathogenic	33955087	Exon 8		No
LDLR_1290	c.1103G>C	p.Cys368Ser	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 8		Yes
LDLR_1289	c.1103G>A	p.Cys368Tyr	LDLR	14	SNV	Missense	Likely Pathogenic	1301940, 15241806, 16314194, Show More >>	Exon 8	Cardiovascular disease	Yes
LDLR_1292	c.1104C>T	p.Cys368=	LDLR	1	SNV	Silent	Uncertain Significance	10882754	Exon 8	Corneal arcus, coronary artery disease, peripheral vascular disease	Yes
LDLR_1293	c.1104C>G	p.Cys368Trp	LDLR	1	SNV	Missense	Likely Pathogenic	30293936	Exon 8		No
LDLR_1291	c.1104C>A	p.Cys368*	LDLR	8	SNV	Nonsense	Pathogenic	10532689, 19446849, 23375686	Exon 8		Yes
LDLR_1294	c.1105G>A	p.Val369Met	LDLR	3	SNV	Missense	Uncertain Significance	27932355, 35560019	Exon 8		Yes
LDLR_1295	c.1107_1111dup	p.Leu371Argfs*44	LDLR	1	Duplication	Frameshift	Pathogenic	18718593	Exon 8		No
LDLR_1296	c.1109A>C	p.Asn370Thr	LDLR	18	SNV	Missense	Pathogenic	10978268, 16343504, 19446849, Show More >>	Exon 8	Xanthomas	Yes
LDLR_1297	c.1110C>G	p.Asn370Lys	LDLR	1	SNV	Missense	Likely Pathogenic	20145306	Exon 8		Yes
LDLR_1298	c.1111_1141del	p.Leu371Lysfs*32	LDLR	1	Deletion	Frameshift	Pathogenic	18718593	Exon 8		No
LDLR_1299	c.1112T>C	p.Leu371Pro	LDLR	2	SNV	Missense	Likely Pathogenic	28379029	Exon 8		Yes
LDLR_1300	c.1112_1132del	p.Leu371_Cys377del	LDLR	4	Deletion	Deletion	Likely Pathogenic	18718593, 31491741, 32331935	Exon 8		No
LDLR_1301	c.1115_1123delinsCACTGA	p.Glu372_Tyr375delinsAlaLeuAsn	LDLR	7	Delins	Protein altering	Likely Pathogenic	10447263, 18718593, 8005585	Exon 8	Xanthomas, coronary artery disease	No
LDLR_1302	c.1116_1124del	p.Glu372_Tyr375delinsAsp	LDLR	1	Deletion	Deletion	Likely Pathogenic	9016531	Exon 8		No
LDLR_1303	c.1117G>A	p.Gly373Ser	LDLR	1	SNV	Missense	Uncertain Significance	22683370	Exon 8		No
LDLR_1304	c.1117G>T	p.Gly373Cys	LDLR	9	SNV	Missense	Likely Pathogenic	20145306, 26666465, 27824480, Show More >>	Exon 8	Coronary artery disease, Xanthomas	Yes
LDLR_1305	c.1118del	p.Gly373Valfs*40	LDLR	1	Deletion	Frameshift	Pathogenic	26802169	Exon 8		No
LDLR_1306	c.1118G>A	p.Gly373Asp	LDLR	53	SNV	Missense	Likely Pathogenic	10978268, 11810272, 11933210, Show More >>	Exon 8	Coronary artery disease, Xanthomas, coronary artery disease	Yes
LDLR_1309	c.1118G>T	p.Gly373Val	LDLR	1	SNV	Missense	Likely Pathogenic	16159606	Exon 8		Yes
LDLR_1308	c.1118dup	p.Gly374Trpfs*7	LDLR	1	Duplication	Frameshift	Pathogenic	34998859	Exon 8	Corneal arcus, xanthomas	No
LDLR_1307	c.1118G>C	p.Gly373Ala	LDLR	1	SNV	Missense	Likely Pathogenic	34869944	Exon 8		Yes
LDLR_1310	c.1118_1121dup	p.Tyr375Trpfs*7	LDLR	10	Duplication	Frameshift	Pathogenic	16389549, 23669246, 23680767, Show More >>	Exon 8		No
LDLR_1311	c.1120G>A	p.Gly374Ser	LDLR	1	SNV	Missense	Uncertain Significance	18325082	Exon 8		No
LDLR_1312	c.1120_1121delinsTC	p.Gly374Ser	LDLR	1	Delins	Missense	Uncertain Significance	16542394	Exon 8		Yes
LDLR_1313	c.1120_1123dup	p.Tyr375Trpfs*7	LDLR	14	Duplication	Frameshift	Pathogenic	10978268, 19446849, 23375686, Show More >>	Exon 8		No
LDLR_1314	c.1123T>G	p.Tyr375Asp	LDLR	5	SNV	Missense	Likely Pathogenic	33418990, 34834584, 37808210	Exon 8	Coronary artery disease, cabg, myocardial infarction	Yes
LDLR_1316	c.1123_1124insGA	p.Tyr375*	LDLR	1	Insertion	Nonsense	Pathogenic	37967952	Exon 8		No
LDLR_1315	c.1123_1124insC	p.Tyr375Serfs*6	LDLR	1	Insertion	Frameshift	Pathogenic	16542394	Exon 8
LDLR_1318	c.1124A>G	p.Tyr375Cys	LDLR	22	SNV	Missense	Likely Pathogenic	11600564, 11668640, 14508510, Show More >>	Exon 8	Xanthomas	Yes
LDLR_1317	c.1124A>C	p.Tyr375Ser	LDLR	2	SNV	Missense	Likely Pathogenic	23815734	Exon 8		Yes
LDLR_1319	c.1125dup	p.Lys376Glnfs*5	LDLR	1	Duplication	Frameshift	Pathogenic	31371270	Exon 8		No
LDLR_1320	c.1127A>G	p.Lys376Arg	LDLR	1	SNV	Missense	Uncertain Significance	21448664	Exon 8		No
LDLR_1321	c.1129T>C	p.Cys377Arg	LDLR	3	SNV	Missense	Likely Pathogenic	27824480	Exon 8		Yes
LDLR_1322	c.1129T>G	p.Cys377Gly	LDLR	6	SNV	Missense	Pathogenic	24722143, 27830735, 29693183	Exon 8	Corneal arcus, xanthomas, Xanthomas, peripheral vascular disease, valvular heart disease	Yes
LDLR_1323	c.1129dup	p.Cys377Leufs*4	LDLR	2	Duplication	Frameshift	Pathogenic	33418990, 34074024	Exon 8		Yes
LDLR_1324	c.1130G>T	p.Cys377Phe	LDLR	5	SNV	Missense	Likely Pathogenic	21865347, 31947532, 34297352	Exon 8		Yes
LDLR_1326	c.1130del	p.Cys377Serfs*36	LDLR	1	Deletion	Frameshift	Pathogenic	28964736	Exon 8		Yes
LDLR_1325	c.1130G>C	p.Cys377Ser	LDLR	1	SNV	Missense	Likely Pathogenic	23375686	Exon 8		Yes
LDLR_1327	c.1130G>A	p.Cys377Tyr	LDLR	39	SNV	Missense	Likely Pathogenic	11810272, 11845603, 15241806, Show More >>	Exon 8		Yes
LDLR_1328	c.1132C>T	p.Gln378*	LDLR	4	SNV	Nonsense	Pathogenic	11005141, 25846081, 28028493, Show More >>	Exon 8	Coronary artery disease	Yes
LDLR_1329	c.1133A>C	p.Gln378Pro	LDLR	10	SNV	Missense	Uncertain Significance	11845603, 15241806, 19446849, Show More >>	Exon 8		Yes
LDLR_1330	c.1135T>C	p.Cys379Arg	LDLR	122	SNV	Missense	Pathogenic	10978268, 11317362, 1301956, Show More >>	Exon 8	Corneal arcus, xanthomas, coronary artery disease, Coronary artery disease, Peripheral vascular disease, Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_1331	c.1136G>A	p.Cys379Tyr	LDLR	26	SNV	Missense	Pathogenic	11237541, 11600564, 11668640, Show More >>	Exon 8		Yes
LDLR_1332	c.1139A>C	p.Glu380Ala	LDLR	2	SNV	Missense	Uncertain Significance	33994402	Exon 8		No
LDLR_1333	c.1142A>C	p.Glu381Ala	LDLR	1	SNV	Missense	Uncertain Significance	28964736	Exon 8		No
LDLR_1334	c.1145G>T	p.Gly382Val	LDLR	41	SNV	Missense	Uncertain Significance	11845603, 23375686, 28964736, Show More >>	Exon 8	Xanthomas	Yes
LDLR_1335	c.1147T>G	p.Phe383Val	LDLR	8	SNV	Missense	Uncertain Significance	27206942, 31491741, 32331935, Show More >>	Exon 8	Xanthomas	No
LDLR_1336	c.1150C>T	p.Gln384*	LDLR	25	SNV	Nonsense	Pathogenic	11845603, 14974088, 15200491, Show More >>	Exon 8	Cardiac rhythm disorder, Xanthomas	Yes
LDLR_1337	c.1151A>C	p.Gln384Pro	LDLR	9	SNV	Missense	Uncertain Significance	11810272, 14974088, 15200491, Show More >>	Exon 8	Xanthomas	Yes
LDLR_1338	c.1151_1159del	p.Gln384_Asp386del	LDLR	1	Deletion	Deletion	Uncertain Significance	22698793	Exon 8		No
LDLR_1339	c.1153C>G	p.Leu385Val	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 8		Yes
LDLR_1340	c.1154T>G	p.Leu385Arg	LDLR	5	SNV	Missense	Uncertain Significance	10422804, 11845603, 1952806, Show More >>	Exon 8		Yes
LDLR_1341	c.1156G>T	p.Asp386Tyr	LDLR	1	SNV	Missense	Uncertain Significance	30312929	Exon 8		Yes
LDLR_1342	c.1158C>G	p.Asp386Glu	LDLR	24	SNV	Missense	Uncertain Significance	11845603, 14974088, 15200491, Show More >>	Exon 8	Cardiac rhythm disorder, Xanthomas	Yes
LDLR_1343	c.1158_1162dup	p.His388Profs*27	LDLR	1	Duplication	Frameshift	Pathogenic	25461735	Exon 8		Yes
LDLR_1344	c.1162del	p.His388Thrfs*25	LDLR	8	Deletion	Frameshift	Pathogenic	16465405, 20091938, 22883975, Show More >>	Exon 8		No
LDLR_1345	c.1162_1173del	p.His388_Ala391del	LDLR	2	Deletion	Deletion	Likely Pathogenic	27784735	Exon 8		No
LDLR_1346	c.1166C>T	p.Thr389Met	LDLR	6	SNV	Missense	Likely Pathogenic	17196209, 20091938, 23375686, Show More >>	Exon 8		Yes
LDLR_1348	c.1167G>A	p.Thr389=	LDLR	1	SNV	Silent	Uncertain Significance	26802169	Exon 8		Yes
LDLR_1347	c.1167G>C	p.Thr389=	LDLR	1	SNV	Silent	Uncertain Significance	26802169	Exon 8		No
LDLR_1350	c.1168A>T	p.Lys390*	LDLR	4	SNV	Nonsense	Pathogenic	10559517, 16159606, 8535447	Exon 8		Yes
LDLR_1349	c.1168A>G	p.Lys390Glu	LDLR	2	SNV	Missense	Uncertain Significance	33418990	Exon 8		No
LDLR_1351	c.1170G>A	p.Lys390=	LDLR	1	SNV	Silent	Uncertain Significance	15994870	Exon 8		No
LDLR_1352	c.1171del	p.Ala391Profs*22	LDLR	1	Deletion	Frameshift	Pathogenic	28965616	Exon 8		No
LDLR_1353	c.1171G>A	p.Ala391Thr	LDLR	1	SNV	Missense	Benign	10428988	Exon 8		Yes
LDLR_1355	c.1174T>C	p.Cys392Arg	LDLR	7	SNV	Missense	Uncertain Significance	12052488, 31371270, 33955087	Exon 8		Yes
LDLR_1354	c.1174dup	p.Cys392Leufs*49	LDLR	15	Duplication	Frameshift	Pathogenic	20538126, 28502495, 33994402	Exon 8		Yes
LDLR_1356	c.1175G>A	p.Cys392Tyr	LDLR	2	SNV	Missense	Uncertain Significance	28964736, 33794673	Exon 8		Yes
LDLR_1357	c.1175_1186+12del	Intronic	LDLR	11	Deletion	Splice donor	Pathogenic	27578127	Exon 8	Xanthelasmas, xanthomas, Xanthomas	Yes
LDLR_1358	c.1176C>A	p.Cys392*	LDLR	30	SNV	Nonsense	Pathogenic	11810272, 11845603, 11933210, Show More >>	Exon 8	Xanthomas	Yes
LDLR_1359	c.1177A>C	p.Lys393Gln	LDLR	2	SNV	Missense	Uncertain Significance	28379029	Exon 8		Yes
LDLR_1360	c.1178del	p.Lys393Argfs*20	LDLR	2	Deletion	Frameshift	Pathogenic	17765246, 38122934	Exon 8		No
LDLR_1361	c.1179G>C	p.Lys393Asn	LDLR	1	SNV	Missense	Uncertain Significance	11005141	Exon 8		Yes
LDLR_1362	c.1182del	p.Val395Trpfs*18	LDLR	1	Deletion	Frameshift	Pathogenic	33418990	Exon 8		Yes
LDLR_1363	c.1183del	p.Val395Trpfs*18	LDLR	1	Deletion	Frameshift	Pathogenic	33418990	Exon 8		No
LDLR_1364	c.1183_1184insC	p.Val395Alafs*46	LDLR	1	Insertion	Frameshift	Pathogenic	33418990	Exon 8		No
LDLR_1365	c.1184_1185del	p.Val395Glyfs*45	LDLR	2	Deletion	Frameshift	Pathogenic	28379029	Exon 8		No
LDLR_1366	c.1185G>C	p.Val395=	LDLR	1	SNV	Silent	Likely Benign	22881376	Exon 8		Yes
LDLR_1368	c.1186G>A	p.Gly396Ser	LDLR	2	SNV	Missense	Likely Pathogenic	27765764, 37305647	Exon 8		Yes
LDLR_1367	c.1186G>C	p.Gly396Arg	LDLR	1	SNV	Missense	Uncertain Significance	33269076	Exon 8		Yes
LDLR_1369	c.1186+1G>A	Intronic	LDLR	41	SNV	Splice donor	Pathogenic	18355452, 20144596, 22417841	Intron 8	Corneal arcus, xanthomas, coronary artery disease	Yes
LDLR_1370	c.1186+1G>T	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	33269076, 33418990	Intron 8		Yes
LDLR_1371	c.1186+1del	Intronic	LDLR	4	Deletion	Splice donor	Pathogenic	10559517, 15823276, 16159606	Intron 8	Corneal arcus, xanthomas, coronary artery disease, cabg	No
LDLR_1372	c.1186+2T>G	Intronic	LDLR	19	SNV	Splice donor	Pathogenic	30270083, 33994402, 34573395	Intron 8	Xanthomas	Yes
LDLR_1374	c.1186+5G>A	Intronic	LDLR	10	SNV	Splice region	Pathogenic	12436241, 18096825, 21990180, Show More >>	Intron 8		Yes
LDLR_1373	c.1186+5G>C	Intronic	LDLR	1	SNV	Splice region	Uncertain Significance	32220565	Intron 8		Yes
LDLR_1375	c.1186+11G>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	15998910	Intron 8		Yes
LDLR_1376	c.1186+29C>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20145306	Intron 8		Yes
LDLR_1377	c.1186+41T>A	Intronic	LDLR	1	SNV	Intronic	Benign	24075752	Intron 8		Yes
LDLR_1378	c.1187-96C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	33601267	Intron 8		No
LDLR_1379	c.1187-25C>T	Intronic	LDLR	1	SNV	Intronic	Benign	24284361	Intron 8		Yes
LDLR_1380	c.1187-10G>A	Intronic	LDLR	51	SNV	Intronic	Pathogenic	12436241, 15576851, 16205024, Show More >>	Intron 8	Corneal arcus, xanthomas	Yes
LDLR_1381	c.1187-7C>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	31371270	Intron 8		Yes
LDLR_1382	c.1187-7C>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	33418990	Intron 8		No
LDLR_1383	c.1187-2A>G	Intronic	LDLR	12	SNV	Splice acceptor	Pathogenic	19208450, 33903311, 35441343	Intron 8	Corneal arcus, xanthomas, coronary artery disease, myocardial infarction, valvular heart disease	Yes
LDLR_1385	c.1187-1G>A	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	20809525, 23375686	Intron 8		Yes
LDLR_1384	c.1187-1G>C	Intronic	LDLR	1	SNV	Splice acceptor	Likely Pathogenic	15023477	Intron 8		No
LDLR_1386	c.1187-1G>T	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	20145306	Intron 8		Yes
LDLR_1387	c.1187-1_1187delinsTA	Intronic	LDLR	12	Delins	Splice acceptor	Pathogenic	30270082	Intron 8	Corneal arcus, xanthomas, cardiovascular disease	Yes
LDLR_1388	c.1187G>C	p.Gly396Ala	LDLR	1	SNV	Missense	Uncertain Significance	30270359	Exon 9		Yes
LDLR_1389	c.1187del	p.Gly396Alafs*17	LDLR	1	Deletion	Frameshift	Pathogenic	34297352	Exon 9		No
LDLR_1390	c.1189T>A	p.Ser397Thr	LDLR	1	SNV	Missense	Uncertain Significance	11810272	Exon 9		Yes
LDLR_1391	c.1194C>A	p.Ile398=	LDLR	1	SNV	Silent	Benign	28145427	Exon 9		Yes
LDLR_1392	c.1194C>T	p.Ile398=	LDLR	1	SNV	Silent	Benign	28145427	Exon 9		Yes
LDLR_1394	c.1195G>T	p.Ala399Ser	LDLR	1	SNV	Missense	Likely Pathogenic	34456200	Exon 9		Yes
LDLR_1393	c.1195G>A	p.Ala399Thr	LDLR	25	SNV	Missense	Pathogenic	10634824, 10978268, 15241806, Show More >>	Exon 9	Coronary artery disease, Peripheral vascular disease, Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_1396	c.1196C>T	p.Ala399Val	LDLR	1	SNV	Missense	Likely Pathogenic	34456200	Exon 9		Yes
LDLR_1395	c.1196C>A	p.Ala399Asp	LDLR	4	SNV	Missense	Likely Pathogenic	11810272, 21382890, 22883975, Show More >>	Exon 9		Yes
LDLR_1397	c.1197del	p.Tyr400Thrfs*13	LDLR	1	Deletion	Frameshift	Pathogenic	34456200	Exon 9		No
LDLR_1398	c.1198T>A	p.Tyr400Asn	LDLR	1	SNV	Missense	Uncertain Significance	36229885	Exon 9	Xanthomas	No
LDLR_1399	c.1198_1199insTC	p.Tyr400Phefs*14	LDLR	1	Insertion	Frameshift	Pathogenic	34456200	Exon 9		No
LDLR_1400	c.1199_1207del	p.Tyr400_Phe402del	LDLR	128	Deletion	Deletion	Pathogenic	15241806, 18243212, 27578128, Show More >>	Exon 9		No
LDLR_1401	c.1200C>G	p.Tyr400*	LDLR	1	SNV	Nonsense	Pathogenic	18096825	Exon 9		No
LDLR_1402	c.1200C>A	p.Tyr400*	LDLR	3	SNV	Nonsense	Pathogenic	15241806, 16250003, 18096825	Exon 9		Yes
LDLR_1404	c.1201C>T	p.Leu401Phe	LDLR	3	SNV	Missense	Uncertain Significance	26802169, 31491741, 34176852	Exon 9		Yes
LDLR_1403	c.1201C>G	p.Leu401Val	LDLR	25	SNV	Missense	Uncertain Significance	18503695, 21722902, 21957200, Show More >>	Exon 9		Yes
LDLR_1405	c.1202T>A	p.Leu401His	LDLR	46	SNV	Missense	Uncertain Significance	11810272, 15701167, 30270359, Show More >>	Exon 9		Yes
LDLR_1406	c.1204_1205del	p.Phe402Leufs*38	LDLR	1	Deletion	Frameshift	Pathogenic	28379029	Exon 9		Yes
LDLR_1407	c.1205dup	p.Phe403Leufs*38	LDLR	1	Duplication	Frameshift	Pathogenic	15241806	Exon 9		No
LDLR_1408	c.1205del	p.Phe402Serfs*11	LDLR	1	Deletion	Frameshift	Pathogenic	15576851	Exon 9		No
LDLR_1409	c.1206del	p.Phe403Serfs*10	LDLR	2	Deletion	Frameshift	Pathogenic	30400955, 32759540	Exon 9		Yes
LDLR_1410	c.1206_1207del	p.Phe403Hisfs*37	LDLR	5	Deletion	Frameshift	Pathogenic	11040093, 11857755, 27765764	Exon 9		No
LDLR_1411	c.1207T>C	p.Phe403Leu	LDLR	16	SNV	Missense	Uncertain Significance	10447263, 15359125, 18718593, Show More >>	Exon 9		Yes
LDLR_1412	c.1207_1209del	p.Phe403del	LDLR	8	Deletion	Deletion	Uncertain Significance	11462246, 22698793, 23375686, Show More >>	Exon 9		No
LDLR_1414	c.1208del	p.Phe403Serfs*10	LDLR	1	Deletion	Frameshift	Pathogenic	15241806	Exon 9		No
LDLR_1413	c.1208T>C	p.Phe403Ser	LDLR	20	SNV	Missense	Uncertain Significance	28964736, 31746944	Exon 9		Yes
LDLR_1416	c.1209C>A	p.Phe403Leu	LDLR	1	SNV	Missense	Uncertain Significance	33794673	Exon 9		Yes
LDLR_1415	c.1209del	p.Phe403Leufs*10	LDLR	1	Deletion	Frameshift	Pathogenic	16211558	Exon 9		Yes
LDLR_1417	c.1210A>C	p.Thr404Pro	LDLR	26	SNV	Missense	Pathogenic	10208484, 10532689, 10668928, Show More >>	Exon 9	Xanthomas, coronary artery disease, cabg	Yes
LDLR_1418	c.1211C>T	p.Thr404Ile	LDLR	12	SNV	Missense	Likely Pathogenic	19073363, 19446849, 22311046, Show More >>	Exon 9	Corneal arcus, xanthomas, coronary artery disease	Yes
LDLR_1419	c.1214A>C	p.Asn405Thr	LDLR	1	SNV	Missense	Likely Pathogenic	22311046	Exon 9		Yes
LDLR_1420	c.1215C>G	p.Asn405Lys	LDLR	10	SNV	Missense	Likely Pathogenic	11845603, 29576406, 34297352, Show More >>	Exon 9	Xanthomas, cardiovascular disease, valvular heart disease	Yes
LDLR_1421	c.1216C>T	p.Arg406Trp	LDLR	35	SNV	Missense	Likely Pathogenic	17694954, 17765246, 17964958, Show More >>	Exon 9	Angina	Yes
LDLR_1422	c.1216C>A	p.Arg406=	LDLR	36	SNV	Silent	Pathogenic	17094996, 17335829, 18400033, Show More >>	Exon 9	Corneal arcus, xanthomas, peripheral vascular disease, Xanthomas	Yes
LDLR_1423	c.1217G>A	p.Arg406Gln	LDLR	8	SNV	Missense	Uncertain Significance	10882754, 11845603, 16466730, Show More >>	Exon 9		Yes
LDLR_1424	c.1217G>C	p.Arg406Pro	LDLR	4	SNV	Missense	Likely Pathogenic	16250003, 17094996, 22698793	Exon 9		Yes
LDLR_1425	c.1221_1222delinsT	p.Glu408Argfs*5	LDLR	1	Delins	Frameshift	Likely Pathogenic	37151871	Exon 9		No
LDLR_1426	c.1222G>A	p.Glu408Lys	LDLR	56	SNV	Missense	Pathogenic	10882754, 11845603, 12052488, Show More >>	Exon 9	Angina, coronary artery disease, cabg, myocardial infarction, cardiac rhythm dis Show More >>	Yes
LDLR_1428	c.1223A>C	p.Glu408Ala	LDLR	4	SNV	Missense	Likely Pathogenic	20809525, 25608117	Exon 9	Valvular heart disease	Yes
LDLR_1427	c.1223A>T	p.Glu408Val	LDLR	3	SNV	Missense	Likely Pathogenic	22698793	Exon 9		Yes
LDLR_1429	c.1228A>G	p.Arg410Gly	LDLR	1	SNV	Missense	Uncertain Significance	19062533	Exon 9		Yes
LDLR_1430	c.1229G>A	p.Arg410Lys	LDLR	1	SNV	Missense	Uncertain Significance	27998977	Exon 9		No
LDLR_1431	c.1230G>C	p.Arg410Ser	LDLR	3	SNV	Missense	Pathogenic	23375686, 31993549, 35795214	Exon 9	Xanthomas	Yes
LDLR_1432	c.1230G>T	p.Arg410Ser	LDLR	1	SNV	Missense	Pathogenic	23669246	Exon 9		Yes
LDLR_1433	c.1231A>G	p.Lys411Glu	LDLR	1	SNV	Missense	Uncertain Significance	16542394	Exon 9		Yes
LDLR_1434	c.1233del	p.Met412*	LDLR	1	Deletion	Nonsense	Pathogenic	16159606	Exon 9		Yes
LDLR_1435	c.1234A>C	p.Met412Leu	LDLR	1	SNV	Missense	Uncertain Significance	36499307	Exon 9		Yes
LDLR_1436	c.1234A>G	p.Met412Val	LDLR	1	SNV	Missense	Uncertain Significance	19062533	Exon 9		Yes
LDLR_1438	c.1235T>C	p.Met412Thr	LDLR	4	SNV	Missense	Uncertain Significance	16406299	Exon 9		Yes
LDLR_1437	c.1235T>G	p.Met412Arg	LDLR	1	SNV	Missense	Uncertain Significance	25591965	Exon 9		No
LDLR_1439	c.1238C>T	p.Thr413Met	LDLR	6	SNV	Missense	Uncertain Significance	22883975, 25682026, 32522009, Show More >>	Exon 9		Yes
LDLR_1440	c.1241T>G	p.Leu414Arg	LDLR	93	SNV	Missense	Likely Pathogenic	11005141, 14656733, 18022922, Show More >>	Exon 9	Xanthomas	Yes
LDLR_1441	c.1243G>C	p.Asp415His	LDLR	3	SNV	Missense	Likely Pathogenic	11810272, 11851376, 26894473	Exon 9	Corneal arcus, xanthomas	Yes
LDLR_1443	c.1244A>G	p.Asp415Gly	LDLR	8	SNV	Missense	Uncertain Significance	10978268, 11810272, 19446849, Show More >>	Exon 9		Yes
LDLR_1442	c.1244A>T	p.Asp415Val	LDLR	1	SNV	Missense	Likely Pathogenic	15199436	Exon 9		Yes
LDLR_1444	c.1245_1249dup	p.Ser417Thrfs*12	LDLR	3	Duplication	Frameshift	Pathogenic	10447263, 31491741, 34011801	Exon 9		No
LDLR_1445	c.1246C>T	p.Arg416Trp	LDLR	244	SNV	Missense	Pathogenic	34176852, 10357843, 10657581, Show More >>	Exon 9	Cardiovascular disease, Coronary artery disease, cabg, myocardial infarction, peripheral vascular disease, Xanthomas	Yes
LDLR_1447	c.1247G>T	p.Arg416Leu	LDLR	7	SNV	Missense	Likely Pathogenic	20538126, 21376320, 28502495, Show More >>	Exon 9		Yes
LDLR_1448	c.1247G>A	p.Arg416Gln	LDLR	11	SNV	Missense	Likely Pathogenic	10090484, 11810272, 15241806, Show More >>	Exon 9	Xanthomas	Yes
LDLR_1446	c.1247G>C	p.Arg416Pro	LDLR	6	SNV	Missense	Likely Pathogenic	11317362, 20045108, 22698793, Show More >>	Exon 9		Yes
LDLR_1449	c.1249A>T	p.Ser417Cys	LDLR	1	SNV	Missense	Uncertain Significance	31491741	Exon 9		No
LDLR_1450	c.1252G>T	p.Glu418*	LDLR	11	SNV	Nonsense	Pathogenic	19446849, 23375686, 33418990, Show More >>	Exon 9		Yes
LDLR_1451	c.1252G>A	p.Glu418Lys	LDLR	14	SNV	Missense	Uncertain Significance	34176852, 12417285, 18718593, Show More >>	Exon 9	Xanthomas	Yes
LDLR_1452	c.1253A>G	p.Glu418Gly	LDLR	1	SNV	Missense	Uncertain Significance	28235710	Exon 9		Yes
LDLR_1453	c.1255T>G	p.Tyr419Asp	LDLR	9	SNV	Missense	Likely Pathogenic	27765764, 30270081	Exon 9	Xanthomas, coronary artery disease	Yes
LDLR_1455	c.1257C>A	p.Tyr419*	LDLR	7	SNV	Nonsense	Pathogenic	11737238, 22294733, 25846081, Show More >>	Exon 9		Yes
LDLR_1454	c.1257C>G	p.Tyr419*	LDLR	55	SNV	Nonsense	Pathogenic	16183066, 17094996, 19446849, Show More >>	Exon 9	Xanthomas, coronary artery disease	Yes
LDLR_1457	c.1258A>G	p.Thr420Ala	LDLR	1	SNV	Missense	Uncertain Significance	31491741	Exon 9		No
LDLR_1456	c.1258A>C	p.Thr420Pro	LDLR	3	SNV	Missense	Uncertain Significance	35560019	Exon 9		Yes
LDLR_1458	c.1261A>G	p.Ser421Gly	LDLR	1	SNV	Missense	Likely Benign	31106925	Exon 9		Yes
LDLR_1459	c.1263C>A	p.Ser421Arg	LDLR	3	SNV	Missense	Uncertain Significance	31491741, 32331935, 33533259	Exon 9		Yes
LDLR_1461	c.1265T>C	p.Leu422Pro	LDLR	2	SNV	Missense	Uncertain Significance	11810272, 23369702	Exon 9		Yes
LDLR_1460	c.1265T>G	p.Leu422Arg	LDLR	6	SNV	Missense	Uncertain Significance	18718593, 31491741, 32331935, Show More >>	Exon 9		No
LDLR_1462	c.1268T>C	p.Ile423Thr	LDLR	46	SNV	Missense	Pathogenic	10884919, 11005141, 11737238, Show More >>	Exon 9	Corneal arcus, xanthomas, Xanthomas	Yes
LDLR_1463	c.1274A>T	p.Asn425Ile	LDLR	3	SNV	Missense	Uncertain Significance	11810272, 21382890, 27578116	Exon 9		Yes
LDLR_1466	c.1277del	p.Leu426Argfs*25	LDLR	1	Deletion	Frameshift	Pathogenic	27596133	Exon 9		No
LDLR_1464	c.1277T>C	p.Leu426Pro	LDLR	2	SNV	Missense	Uncertain Significance	33269076, 9763532	Exon 9		Yes
LDLR_1465	c.1277T>G	p.Leu426Arg	LDLR	2	SNV	Missense	Uncertain Significance	34297352	Exon 9		Yes
LDLR_1468	c.1279A>C	p.Arg427=	LDLR	7	SNV	Silent	Uncertain Significance	26020417	Exon 9		Yes
LDLR_1467	c.1279A>T	p.Arg427Trp	LDLR	1	SNV	Missense	Uncertain Significance	28235710	Exon 9		No
LDLR_1469	c.1282_1285del	p.Asn428Trpfs*22	LDLR	1	Deletion	Frameshift	Pathogenic	34363016	Exon 9		No
LDLR_1471	c.1283A>G	p.Asn428Ser	LDLR	1	SNV	Missense	Uncertain Significance	16627557	Exon 9		Yes
LDLR_1470	c.1283A>C	p.Asn428Thr	LDLR	1	SNV	Missense	Uncertain Significance	11257257	Exon 9		Yes
LDLR_1473	c.1284del	p.Asn428Lysfs*23	LDLR	1	Deletion	Frameshift	Pathogenic	34363016	Exon 9		Yes
LDLR_1472	c.1284C>G	p.Asn428Lys	LDLR	9	SNV	Missense	Uncertain Significance	11005141, 11238294, 11668640, Show More >>	Exon 9	Coronary artery disease, cabg, Xanthomas	Yes
LDLR_1476	c.1285G>C	p.Val429Leu	LDLR	4	SNV	Missense	Likely Pathogenic	17765246, 38122934	Exon 9		Yes
LDLR_1475	c.1285G>A	p.Val429Met	LDLR	1463	SNV	Missense	Pathogenic	34176852, 10146335, 10422804, Show More >>	Exon 9	Corneal arcus, xanthomas, coronary artery disease, Corneal arcus, xanthomas, per Show More >>	Yes
LDLR_1474	c.1285G>T	p.Val429Leu	LDLR	2	SNV	Missense	Likely Pathogenic	33994402, 9727746	Exon 9		Yes
LDLR_1477	c.1288G>C	p.Val430Leu	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 9		Yes
LDLR_1478	c.1289T>G	p.Val430Gly	LDLR	1	SNV	Missense	Uncertain Significance	36499307	Exon 9		No
LDLR_1480	c.1291G>C	p.Ala431Pro	LDLR	3	SNV	Missense	Likely Pathogenic	29502162, 29870584	Exon 9	Xanthomas	Yes
LDLR_1479	c.1291G>T	p.Ala431Ser	LDLR	2	SNV	Missense	Likely Pathogenic	30270359	Exon 9		No
LDLR_1481	c.1291G>A	p.Ala431Thr	LDLR	86	SNV	Missense	Pathogenic	10447263, 11810272, 12837857, Show More >>	Exon 9	Coronary artery disease, myocardial infarction, Coronary artery disease, myocard Show More >>	Yes
LDLR_1482	c.1291_1331del	p.Ala431*	LDLR	3	Deletion	Frameshift	Pathogenic	15701167	Exon 9		No
LDLR_1483	c.1292C>T	p.Ala431Val	LDLR	3	SNV	Missense	Likely Pathogenic	28964736, 29353225, 33418990	Exon 9		No
LDLR_1484	c.1294C>G	p.Leu432Val	LDLR	3	SNV	Missense	Uncertain Significance	10090484, 29396260, 35047021	Exon 9	Myocardial infarction, cardiac rhythm disorder	Yes
LDLR_1485	c.1295T>C	p.Leu432Pro	LDLR	5	SNV	Missense	Uncertain Significance	20045108, 23375686, 34297352	Exon 9		Yes
LDLR_1486	c.1295T>G	p.Leu432Arg	LDLR	1	SNV	Missense	Uncertain Significance	19062533	Exon 9		Yes
LDLR_1487	c.1296_1298del	p.Asp433del	LDLR	1	Deletion	Deletion	Uncertain Significance	23375686	Exon 9		Yes
LDLR_1488	c.1297G>C	p.Asp433His	LDLR	90	SNV	Missense	Pathogenic	34176852, 12227864, 12417285, Show More >>	Exon 9	Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_1489	c.1297G>T	p.Asp433Tyr	LDLR	3	SNV	Missense	Likely Pathogenic	10735632, 11810272, 21382890	Exon 9		Yes
LDLR_1490	c.1297_1299del	p.Asp433del	LDLR	1	Deletion	Deletion	Uncertain Significance	23375686	Exon 9		No
LDLR_1491	c.1298A>T	p.Asp433Val	LDLR	1	SNV	Missense	Likely Pathogenic	36991406	Exon 9		Yes
LDLR_1492	c.1299C>G	p.Asp433Glu	LDLR	1	SNV	Missense	Likely Pathogenic	33890476	Exon 9		No
LDLR_1493	c.1301C>T	p.Thr434Met	LDLR	2	SNV	Missense	Likely Pathogenic	23375686, 27765764	Exon 9		Yes
LDLR_1494	c.1301C>A	p.Thr434Lys	LDLR	7	SNV	Missense	Likely Pathogenic	10206683, 11810272, 1301956, Show More >>	Exon 9		Yes
LDLR_1495	c.1301C>G	p.Thr434Arg	LDLR	43	SNV	Missense	Likely Pathogenic	10634824, 10978268, 11237541, Show More >>	Exon 9	Xanthomas, coronary artery disease, Xanthomas, coronary artery disease, peripheral vascular disease	Yes
LDLR_1496	c.1303del	p.Glu435Argfs*16	LDLR	2	Deletion	Frameshift	Pathogenic	11196104, 15701167	Exon 9		No
LDLR_1497	c.1306del	p.Val436Trpfs*15	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 9		No
LDLR_1499	c.1307del	p.Val436Glyfs*15	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 9		No
LDLR_1498	c.1307T>C	p.Val436Ala	LDLR	22	SNV	Missense	Uncertain Significance	11810272, 21382890, 21722902, Show More >>	Exon 9		Yes
LDLR_1500	c.1309dup	p.Ala437Glyfs*4	LDLR	1	Duplication	Frameshift	Pathogenic	20236128	Exon 9		No
LDLR_1501	c.1316del	p.Asn439Ilefs*12	LDLR	1	Deletion	Frameshift	Pathogenic	34456200	Exon 9		No
LDLR_1502	c.1317T>C	p.Asn439=	LDLR	1	SNV	Silent	Uncertain Significance	16627557	Exon 9		Yes
LDLR_1503	c.1318A>G	p.Arg440Gly	LDLR	1	SNV	Missense	Uncertain Significance	11857755	Exon 9		Yes
LDLR_1504	c.1322T>C	p.Ile441Thr	LDLR	48	SNV	Missense	Likely Pathogenic	11810272, 16092059, 17087781, Show More >>	Exon 9		Yes
LDLR_1505	c.1322T>A	p.Ile441Asn	LDLR	7	SNV	Missense	Pathogenic	1301956, 25463123, 33418990, Show More >>	Exon 9		Yes
LDLR_1506	c.1323C>G	p.Ile441Met	LDLR	1	SNV	Missense	Likely Pathogenic	1301956	Exon 9		Yes
LDLR_1508	c.1324T>A	p.Tyr442Asn	LDLR	2	SNV	Missense	Uncertain Significance	11857755, 15556094	Exon 9		Yes
LDLR_1507	c.1324T>C	p.Tyr442His	LDLR	3	SNV	Missense	Uncertain Significance	17347910, 33794673	Exon 9		Yes
LDLR_1509	c.1325A>G	p.Tyr442Cys	LDLR	4	SNV	Missense	Uncertain Significance	15576851, 20828696, 27765764, Show More >>	Exon 9		Yes
LDLR_1510	c.1326C>G	p.Tyr442*	LDLR	3	SNV	Nonsense	Pathogenic	15241806	Exon 9		Yes
LDLR_1511	c.1327T>C	p.Trp443Arg	LDLR	10	SNV	Missense	Likely Pathogenic	28458923, 32423031, 33418990, Show More >>	Exon 9	Coronary artery disease, cabg, myocardial infarction, Xanthomas	Yes
LDLR_1512	c.1328G>C	p.Trp443Ser	LDLR	1	SNV	Missense	Likely Pathogenic	15556093	Exon 9		Yes
LDLR_1513	c.1328G>A	p.Trp443*	LDLR	5	SNV	Nonsense	Pathogenic	15701167, 20145306, 21722902	Exon 9		Yes
LDLR_1514	c.1329G>T	p.Trp443Cys	LDLR	1	SNV	Missense	Likely Pathogenic	27765764	Exon 9		Yes
LDLR_1516	c.1329G>A	p.Trp443*	LDLR	4	SNV	Nonsense	Pathogenic	19319977, 20538126, 21376320, Show More >>	Exon 9		Yes
LDLR_1515	c.1329G>C	p.Trp443Cys	LDLR	10	SNV	Missense	Likely Pathogenic	11196104, 11845603, 12436241, Show More >>	Exon 9		Yes
LDLR_1517	c.1330T>C	p.Ser444Pro	LDLR	5	SNV	Missense	Uncertain Significance	15556094, 16250003, 22883975	Exon 9		Yes
LDLR_1518	c.1331C>T	p.Ser444Phe	LDLR	1	SNV	Missense	Uncertain Significance	34297352	Exon 9		Yes
LDLR_1519	c.1332dup	p.Asp445*	LDLR	4	Duplication	Frameshift	Pathogenic	27081511	Exon 9		No
LDLR_1520	c.1335C>A	p.Asp445Glu	LDLR	1	SNV	Missense	Likely Pathogenic	7573037	Exon 9		Yes
LDLR_1521	c.1335C>G	p.Asp445Glu	LDLR	1	SNV	Missense	Likely Pathogenic	7573037	Exon 9		Yes
LDLR_1523	c.1336del	p.Leu446Cysfs*5	LDLR	4	Deletion	Frameshift	Pathogenic	16542394, 7718023	Exon 9		No
LDLR_1522	c.1336C>G	p.Leu446Val	LDLR	3	SNV	Missense	Uncertain Significance	28965616, 29127338	Exon 9		Yes
LDLR_1524	c.1338del	p.Ser447Profs*4	LDLR	1	Deletion	Frameshift	Pathogenic	36991406	Exon 9		Yes
LDLR_1525	c.1339T>C	p.Ser447Pro	LDLR	3	SNV	Missense	Likely Pathogenic	20145306, 34011801	Exon 9		Yes
LDLR_1526	c.1340C>G	p.Ser447Cys	LDLR	5	SNV	Missense	Likely Pathogenic	23369702, 24373485, 28458923	Exon 9	Myocardial infarction	Yes
LDLR_1527	c.1342C>T	p.Gln448*	LDLR	377	SNV	Nonsense	Pathogenic	15241806, 16627557, 18096825, Show More >>	Exon 9		Yes
LDLR_1528	c.1343del	p.Gln448Argfs*3	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 9		Yes
LDLR_1529	c.1345A>G	p.Arg449Gly	LDLR	1	SNV	Missense	Likely Pathogenic	34869944	Exon 9		No
LDLR_1530	c.1351A>T	p.Ile451Phe	LDLR	1	SNV	Missense	Uncertain Significance	22881376	Exon 9		Yes
LDLR_1531	c.1352T>C	p.Ile451Thr	LDLR	17	SNV	Missense	Pathogenic	10980548, 11317361, 11810272, Show More >>	Exon 9		Yes
LDLR_1532	c.1358+1G>A	Intronic	LDLR	102	SNV	Splice donor	Pathogenic	10735632, 15241806, 15701167, Show More >>	Intron 9		Yes
LDLR_1534	c.1358+2T>C	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	28964736, 33111339	Intron 9		Yes
LDLR_1533	c.1358+2T>A	Intronic	LDLR	9	SNV	Splice donor	Pathogenic	11196104, 16250003, 22698793, Show More >>	Intron 9		Yes
LDLR_1535	c.1358+3_1358+8del	Intronic	LDLR	7	Deletion	Splice region	Uncertain Significance	20809525	Intron 9		No
LDLR_1536	c.1358+5G>T	Intronic	LDLR	2	SNV	Splice region	Uncertain Significance	28379029, 36468316	Intron 9		Yes
LDLR_1537	c.1358+32C>T	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 9		Yes
LDLR_1538	c.1358+38T>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	29269200	Intron 9		No
LDLR_1539	c.1359-31_1359-23delinsCGGCT	Intronic	LDLR	1	Delins	Intronic	Uncertain Significance	16835862	Intron 9		No
LDLR_1540	c.1359-30C>T	Intronic	LDLR	1	SNV	Intronic	Benign	29531935	Intron 9		Yes
LDLR_1541	c.1359-27T>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	28475941	Intron 9		Yes
LDLR_1542	c.1359-5C>G	Intronic	LDLR	6	SNV	Intronic	Pathogenic	17765246, 20828696, 20964105, Show More >>	Intron 9		Yes
LDLR_1543	c.1359-4T>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20809525	Intron 9		Yes
LDLR_1544	c.1359-1G>A	Intronic	LDLR	961	SNV	Splice acceptor	Pathogenic	10441197, 10735632, 11472754, Show More >>	Intron 9	Xanthomas	Yes
LDLR_1545	c.1359-1G>C	Intronic	LDLR	5	SNV	Splice acceptor	Pathogenic	35137788	Intron 9		Yes
LDLR_1546	c.1360del	p.Thr454Profs*53	LDLR	1	Deletion	Frameshift	Pathogenic	33890476	Exon 10		No
LDLR_1547	c.1361C>A	p.Thr454Asn	LDLR	13	SNV	Missense	Likely Pathogenic	15241806, 16083882, 25378237, Show More >>	Exon 10		Yes
LDLR_1549	c.1363C>T	p.Gln455*	LDLR	1	SNV	Nonsense	Pathogenic	17094996	Exon 10		Yes
LDLR_1548	c.1363del	p.Gln455Serfs*52	LDLR	1	Deletion	Frameshift	Pathogenic	27206941	Exon 10	Corneal arcus, xanthomas, peripheral vascular disease	No
LDLR_1550	c.1365del	p.Gln455Hisfs*52	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 10		Yes
LDLR_1551	c.1367T>A	p.Leu456His	LDLR	1	SNV	Missense	Uncertain Significance	16542394	Exon 10		Yes
LDLR_1552	c.1367T>C	p.Leu456Pro	LDLR	2	SNV	Missense	Uncertain Significance	19026292, 23064986	Exon 10		Yes
LDLR_1553	c.1367_1376del	p.Leu456Profs*48	LDLR	1	Deletion	Frameshift	Pathogenic	22698793	Exon 10		No
LDLR_1554	c.1371_1374dup	p.Ala459Glnfs*9	LDLR	5	Duplication	Frameshift	Pathogenic	9259195	Exon 10		No
LDLR_1555	c.1372del	p.Arg458Glufs*49	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 10		No
LDLR_1556	c.1374del	p.Ala459Profs*48	LDLR	1	Deletion	Frameshift	Pathogenic	15556093	Exon 10		No
LDLR_1557	c.1374_1375del	p.Arg458Serfs*8	LDLR	5	Deletion	Frameshift	Pathogenic	10502834, 10978268, 17347910, Show More >>	Exon 10		No
LDLR_1558	c.1376C>G	p.Ala459Gly	LDLR	1	SNV	Missense	Uncertain Significance	15199436	Exon 10		Yes
LDLR_1559	c.1377_1380del	p.His460Alafs*46	LDLR	1	Deletion	Frameshift	Pathogenic	22698793	Exon 10		No
LDLR_1560	c.1379del	p.His460Profs*47	LDLR	1	Deletion	Frameshift	Pathogenic	22698793	Exon 10		No
LDLR_1561	c.1379_1402delinsCAGCTTGACCCGC	p.His460Profs*3	LDLR	1	Delins	Frameshift	Pathogenic	23669246	Exon 10		No
LDLR_1562	c.1381G>A	p.Gly461Ser	LDLR	1	SNV	Missense	Uncertain Significance	35047021	Exon 10		Yes
LDLR_1563	c.1381G>T	p.Gly461Cys	LDLR	8	SNV	Missense	Likely Pathogenic	16465405, 20091938, 23375686, Show More >>	Exon 10		Yes
LDLR_1564	c.1381_1400del	p.Gly461Argfs*68	LDLR	1	Deletion	Frameshift	Pathogenic	37119068	Exon 10		No
LDLR_1565	c.1382del	p.Gly461Alafs*46	LDLR	2	Deletion	Frameshift	Pathogenic	34029164, 37119068	Exon 10		No
LDLR_1566	c.1383C>T	p.Gly461=	LDLR	2	SNV	Silent	Uncertain Significance	26020417	Exon 10		Yes
LDLR_1567	c.1383C>G	p.Gly461=	LDLR	1	SNV	Silent	Uncertain Significance	26020417	Exon 10		No
LDLR_1568	c.1384G>A	p.Val462Ile	LDLR	9	SNV	Missense	Uncertain Significance	20538126, 21376320, 28502495, Show More >>	Exon 10		Yes
LDLR_1569	c.1387del	p.Ser463Leufs*44	LDLR	1	Deletion	Frameshift	Pathogenic	32044282	Exon 10		No
LDLR_1570	c.1392del	p.Tyr465Metfs*42	LDLR	1	Deletion	Frameshift	Pathogenic	16250003	Exon 10		No
LDLR_1572	c.1393T>A	p.Tyr465Asn	LDLR	2	SNV	Missense	Uncertain Significance	28964736, 29396260	Exon 10	Myocardial infarction, cardiac rhythm disorder	Yes
LDLR_1571	c.1393del	p.Tyr465Metfs*42	LDLR	1	Deletion	Frameshift	Pathogenic	16250003	Exon 10		Yes
LDLR_1573	c.1394A>G	p.Tyr465Cys	LDLR	2	SNV	Missense	Uncertain Significance	22698793, 32829317	Exon 10		Yes
LDLR_1574	c.1395T>G	p.Tyr465*	LDLR	3	SNV	Nonsense	Pathogenic	31491741, 32331935, 33533259	Exon 10		No
LDLR_1575	c.1400C>T	p.Thr467Ile	LDLR	1	SNV	Missense	Uncertain Significance	30293936	Exon 10		Yes
LDLR_1576	c.1402G>A	p.Val468Ile	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 10		Yes
LDLR_1577	c.1403T>C	p.Val468Ala	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 10		Yes
LDLR_1578	c.1403T>A	p.Val468Asp	LDLR	1	SNV	Missense	Uncertain Significance	20828696	Exon 10		Yes
LDLR_1579	c.1405A>T	p.Ile469Phe	LDLR	1	SNV	Missense	Uncertain Significance	28964736	Exon 10		No
LDLR_1580	c.1408A>G	p.Ser470Gly	LDLR	1	SNV	Missense	Uncertain Significance	27765764	Exon 10		Yes
LDLR_1581	c.1408A>T	p.Ser470Cys	LDLR	1	SNV	Missense	Uncertain Significance	23130880	Exon 10		Yes
LDLR_1582	c.1410C>G	p.Ser470Arg	LDLR	1	SNV	Missense	Uncertain Significance	30293936	Exon 10		No
LDLR_1583	c.1411A>G	p.Arg471Gly	LDLR	1	SNV	Missense	Uncertain Significance	21418584	Exon 10		Yes
LDLR_1585	c.1413A>T	p.Arg471Ser	LDLR	1	SNV	Missense	Uncertain Significance	39337524	Exon 10		No
LDLR_1584	c.1413A>G	p.Arg471=	LDLR	1	SNV	Silent	Benign	30270082	Exon 10		Yes
LDLR_1586	c.1413_1414delinsGGACAT	p.Gln474Hisfs*63	LDLR	2	Delins	Frameshift	Pathogenic	28964736, 28965616	Exon 10		No
LDLR_1588	c.1414G>A	p.Asp472Asn	LDLR	1	SNV	Missense	Uncertain Significance	29572815	Exon 10		Yes
LDLR_1587	c.1414G>T	p.Asp472Tyr	LDLR	22	SNV	Missense	Pathogenic	17196209, 22698793, 23375686, Show More >>	Exon 10	Coronary artery disease	Yes
LDLR_1589	c.1415A>G	p.Asp472Gly	LDLR	1	SNV	Missense	Uncertain Significance	17964958	Exon 10		No
LDLR_1590	c.1415_1418dup	p.Gln474Hisfs*63	LDLR	461	Duplication	Frameshift	Pathogenic	10978268, 11700734, 19446849, Show More >>	Exon 10		Yes
LDLR_1591	c.1417A>G	p.Ile473Val	LDLR	1	SNV	Missense	Likely Benign	26020417	Exon 10		Yes
LDLR_1592	c.1417_1431del	p.Ile473_Asp477del	LDLR	2	Deletion	Deletion	Uncertain Significance	19446849, 23375686	Exon 10		No
LDLR_1594	c.1418dup	p.Gln474Profs*62	LDLR	1	Duplication	Frameshift	Pathogenic	21920719	Exon 10		No
LDLR_1593	c.1418T>A	p.Ile473Asn	LDLR	3	SNV	Missense	Likely Pathogenic	10532689, 27816806	Exon 10	Xanthomas, coronary artery disease	Yes
LDLR_1595	c.1418_1419delinsAA	p.Ile473Lys	LDLR	1	Delins	Missense	Uncertain Significance	32044282	Exon 10	Corneal arcus, xanthomas	No
LDLR_1596	c.1420C>T	p.Gln474*	LDLR	8	SNV	Nonsense	Pathogenic	11810272, 28502495, 29353225, Show More >>	Exon 10		Yes
LDLR_1597	c.1423_1424delinsA	p.Ala475Thrfs*32	LDLR	1	Delins	Frameshift	Pathogenic	15241806	Exon 10		No
LDLR_1598	c.1424C>T	p.Ala475Val	LDLR	2	SNV	Missense	Uncertain Significance	20809525	Exon 10		Yes
LDLR_1599	c.1426C>T	p.Pro476Ser	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 10		Yes
LDLR_1600	c.1427C>G	p.Pro476Arg	LDLR	17	SNV	Missense	Likely Pathogenic	30270076, 32922439	Exon 10	Corneal arcus, xanthomas, coronary artery disease, cabg, myocardial infarction, Xanthomas	Yes
LDLR_1601	c.1428dup	p.Asp477Argfs*59	LDLR	3	Duplication	Frameshift	Pathogenic	11139254, 11196104, 23375686	Exon 10	Coronary artery disease, metabolic phenotype	No
LDLR_1602	c.1429G>A	p.Asp477Asn	LDLR	9	SNV	Missense	Uncertain Significance	16250003, 29172679, 35047021, Show More >>	Exon 10		Yes
LDLR_1603	c.1431C>G	p.Asp477Glu	LDLR	1	SNV	Missense	Uncertain Significance	22220933	Exon 10		Yes
LDLR_1604	c.1432G>A	p.Gly478Arg	LDLR	91	SNV	Missense	Likely Pathogenic	34176852, 10559517, 11005141, Show More >>	Exon 10	Coronary artery disease, Coronary artery disease, myocardial infarction, Xanthomas	Yes
LDLR_1605	c.1433G>A	p.Gly478Glu	LDLR	5	SNV	Missense	Likely Pathogenic	27824480, 35741760	Exon 10		Yes
LDLR_1606	c.1434del	p.Leu479Trpfs*28	LDLR	1	Deletion	Frameshift	Pathogenic	15241806	Exon 10		No
LDLR_1608	c.1436T>A	p.Leu479Gln	LDLR	10	SNV	Missense	Likely Pathogenic	29213121, 33732287	Exon 10	Corneal arcus, xanthomas, coronary artery disease, cabg, myocardial infarction, Xanthomas, myocardial infarction	Yes
LDLR_1607	c.1436T>C	p.Leu479Pro	LDLR	18	SNV	Missense	Likely Pathogenic	11313767, 11668627, 15135252, Show More >>	Exon 10		Yes
LDLR_1609	c.1438G>A	p.Ala480Thr	LDLR	1	SNV	Missense	Uncertain Significance	26802169	Exon 10		Yes
LDLR_1610	c.1438G>C	p.Ala480Pro	LDLR	2	SNV	Missense	Uncertain Significance	20145306	Exon 10		Yes
LDLR_1611	c.1439C>T	p.Ala480Val	LDLR	1	SNV	Missense	Uncertain Significance	27830735	Exon 10		Yes
LDLR_1612	c.1439_1449del	p.Ala480Aspfs*52	LDLR	18	Deletion	Frameshift	Pathogenic	10978268, 19446849, 23375686, Show More >>	Exon 10		No
LDLR_1613	c.1442T>C	p.Val481Ala	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 10		No
LDLR_1615	c.1444G>C	p.Asp482His	LDLR	20	SNV	Missense	Likely Pathogenic	10208479, 10559517, 11313767, Show More >>	Exon 10		Yes
LDLR_1616	c.1444G>T	p.Asp482Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	33418990	Exon 10		Yes
LDLR_1614	c.1444G>A	p.Asp482Asn	LDLR	53	SNV	Missense	Likely Pathogenic	10559517, 11139254, 11810272, Show More >>	Exon 10	Coronary artery disease, Coronary artery disease, cabg, Coronary artery disease, cabg, metabolic phenotype, myocardial infarction	Yes
LDLR_1617	c.1445A>G	p.Asp482Gly	LDLR	1	SNV	Missense	Likely Pathogenic	20145306	Exon 10		Yes
LDLR_1619	c.1447T>G	p.Trp483Gly	LDLR	3	SNV	Missense	Likely Pathogenic	27932355, 31161821	Exon 10		No
LDLR_1618	c.1447T>C	p.Trp483Arg	LDLR	7	SNV	Missense	Likely Pathogenic	10559517, 11845603, 16159606, Show More >>	Exon 10		Yes
LDLR_1620	c.1448G>A	p.Trp483*	LDLR	109	SNV	Nonsense	Pathogenic	10657581, 11810272, 17964958, Show More >>	Exon 10	Corneal arcus, xanthomas, Corneal arcus, xanthomas, coronary artery disease, Cor Show More >>	Yes
LDLR_1621	c.1448_1451dup	p.Ile484Metfs*53	LDLR	1	Duplication	Frameshift	Pathogenic	30312929	Exon 10		No
LDLR_1623	c.1449G>T	p.Trp483Cys	LDLR	1	SNV	Missense	Likely Pathogenic	26892515	Exon 10		Yes
LDLR_1624	c.1449G>A	p.Trp483*	LDLR	4	SNV	Nonsense	Pathogenic	19446849, 23375686, 25807990	Exon 10	Xanthomas, coronary artery disease, peripheral vascular disease
LDLR_1622	c.1449G>C	p.Trp483Cys	LDLR	1	SNV	Missense	Likely Pathogenic	36648309	Exon 10		Yes
LDLR_1625	c.1454A>G	p.His485Arg	LDLR	7	SNV	Missense	Pathogenic	10978268, 1301956, 16343504, Show More >>	Exon 10	Coronary artery disease, Xanthomas, coronary artery disease	Yes
LDLR_1626	c.1455C>G	p.His485Gln	LDLR	1	SNV	Missense	Likely Pathogenic	17765246	Exon 10		Yes
LDLR_1627	c.1456del	p.Ser486Alafs*21	LDLR	1	Deletion	Frameshift	Pathogenic	28964736	Exon 10		Yes
LDLR_1628	c.1458del	p.Ser486Argfs*21	LDLR	1	Deletion	Frameshift	Pathogenic	28964736	Exon 10		No
LDLR_1629	c.1459_1472dup	p.Asp492Thrfs*20	LDLR	1	Duplication	Frameshift	Pathogenic	35631530	Exon 10		No
LDLR_1630	c.1460A>G	p.Asn487Ser	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 10		Yes
LDLR_1631	c.1460_1462del	p.Asn487del	LDLR	7	Deletion	Deletion	Uncertain Significance	11195242, 7635482, 8696963, Show More >>	Exon 10		No
LDLR_1634	c.1463T>C	p.Ile488Thr	LDLR	5	SNV	Missense	Likely Pathogenic	11810272, 32829317, 35631530	Exon 10		Yes
LDLR_1633	c.1463T>A	p.Ile488Asn	LDLR	10	SNV	Missense	Likely Pathogenic	10978268, 11668640, 16627557, Show More >>	Exon 10		Yes
LDLR_1632	c.1463T>G	p.Ile488Ser	LDLR	1	SNV	Missense	Likely Pathogenic	20236128	Exon 10		Yes
LDLR_1636	c.1465T>A	p.Tyr489Asn	LDLR	2	SNV	Missense	Uncertain Significance	32423031, 33418990	Exon 10	Coronary artery disease, myocardial infarction	No
LDLR_1635	c.1465T>C	p.Tyr489His	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 10		No
LDLR_1637	c.1466A>G	p.Tyr489Cys	LDLR	10	SNV	Missense	Uncertain Significance	16250003, 16792510, 19446849, Show More >>	Exon 10	Xanthomas	Yes
LDLR_1638	c.1467C>G	p.Tyr489*	LDLR	68	SNV	Nonsense	Pathogenic	12618273, 15026427, 16546193, Show More >>	Exon 10		Yes
LDLR_1639	c.1468T>A	p.Trp490Arg	LDLR	1	SNV	Missense	Likely Pathogenic	23021490	Exon 10		No
LDLR_1640	c.1468T>C	p.Trp490Arg	LDLR	2	SNV	Missense	Likely Pathogenic	17765246, 33194883	Exon 10	Angina, cardiovascular disease, coronary artery disease, myocardial infarction, peripheral vascular disease	Yes
LDLR_1641	c.1468T>G	p.Trp490Gly	LDLR	2	SNV	Missense	Likely Pathogenic	19446849, 23375686	Exon 10		Yes
LDLR_1642	c.1469G>A	p.Trp490*	LDLR	6	SNV	Nonsense	Pathogenic	32331935, 33533259, 8103503	Exon 10		Yes
LDLR_1643	c.1470G>T	p.Trp490Cys	LDLR	2	SNV	Missense	Likely Pathogenic	26361156, 28965616	Exon 10		Yes
LDLR_1644	c.1470G>A	p.Trp490*	LDLR	20	SNV	Nonsense	Pathogenic	30675146, 30876528, 9383100, Show More >>	Exon 10	Peripheral vascular disease, Xanthomas, angina, coronary artery disease, peripheral vascular disease	Yes
LDLR_1645	c.1470G>C	p.Trp490Cys	LDLR	1	SNV	Missense	Likely Pathogenic	33519890	Exon 10		Yes
LDLR_1646	c.1471dup	p.Thr491Asnfs*45	LDLR	1	Duplication	Frameshift	Pathogenic	19843101	Exon 10		Yes
LDLR_1647	c.1471A>G	p.Thr491Ala	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 10		Yes
LDLR_1648	c.1472C>A	p.Thr491Asn	LDLR	4	SNV	Missense	Uncertain Significance	23375686, 35795214	Exon 10	Xanthomas, coronary artery disease	Yes
LDLR_1651	c.1474G>C	p.Asp492His	LDLR	3	SNV	Missense	Likely Pathogenic	10208479, 11313767, 16389549	Exon 10		Yes
LDLR_1649	c.1474G>A	p.Asp492Asn	LDLR	100	SNV	Missense	Pathogenic	34176852, 11005141, 11737238, Show More >>	Exon 10	Coronary artery disease, Valvular heart disease, Xanthomas, Xanthomas, cardiovas Show More >>	Yes
LDLR_1650	c.1474del	p.Asp492Thrfs*15	LDLR	2	Deletion	Frameshift	Pathogenic	25461735, 35631530	Exon 10		Yes
LDLR_1652	c.1475A>T	p.Asp492Val	LDLR	1	SNV	Missense	Likely Pathogenic	29353225	Exon 10		Yes
LDLR_1653	c.1475A>G	p.Asp492Gly	LDLR	3	SNV	Missense	Likely Pathogenic	16250003, 30270055, 32897268	Exon 10		Yes
LDLR_1654	c.1476_1478del	p.Ser493del	LDLR	1	Deletion	Deletion	Uncertain Significance	32331935	Exon 10		No
LDLR_1655	c.1477_1479delinsAGAGACA	p.Ser493Argfs*44	LDLR	107	Delins	Frameshift	Pathogenic	11257256, 18757057, 20144596, Show More >>	Exon 10	Corneal arcus, xanthomas, Corneal arcus, xanthomas, angina, peripheral vascular Show More >>
LDLR_1656	c.1477_1479del	p.Ser493del	LDLR	1	Deletion	Deletion	Uncertain Significance	32331935	Exon 10		No
LDLR_1657	c.1477_1488del	p.Ser493_Gly496del	LDLR	3	Deletion	Deletion	Uncertain Significance	31491741, 32331935, 33533259	Exon 10		No
LDLR_1658	c.1478del	p.Ser493Leufs*14	LDLR	1	Deletion	Frameshift	Pathogenic	28161202	Exon 10		Yes
LDLR_1659	c.1478_1479del	p.Ser493Cysfs*42	LDLR	53	Deletion	Frameshift	Pathogenic	10978268, 11810272, 15823276, Show More >>	Exon 10	Corneal arcus, xanthomas, coronary artery disease, Corneal arcus, xanthomas, per Show More >>	No
LDLR_1660	c.1481_1501del	p.Val494_Val500del	LDLR	1	Deletion	Deletion	Uncertain Significance	16250003	Exon 10		No
LDLR_1661	c.1486G>A	p.Gly496Ser	LDLR	1	SNV	Missense	Uncertain Significance	36648309	Exon 10		Yes
LDLR_1662	c.1486_1487del	p.Gly496Hisfs*39	LDLR	2	Deletion	Frameshift	Pathogenic	11810272, 21382890	Exon 10		No
LDLR_1665	c.1487G>A	p.Gly496Asp	LDLR	1	SNV	Missense	Uncertain Significance	26361156	Exon 10		No
LDLR_1664	c.1487G>T	p.Gly496Val	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 10		Yes
LDLR_1663	c.1487del	p.Gly496Alafs*11	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 10		No
LDLR_1666	c.1489A>C	p.Thr497Pro	LDLR	2	SNV	Missense	Uncertain Significance	11933210	Exon 10		Yes
LDLR_1667	c.1491del	p.Val498Serfs*9	LDLR	1	Deletion	Frameshift	Pathogenic	28965616	Exon 10		No
LDLR_1668	c.1492G>T	p.Val498Phe	LDLR	1	SNV	Missense	Uncertain Significance	12052488	Exon 10		Yes
LDLR_1669	c.1492_1493del	p.Val498Leufs*37	LDLR	1	Deletion	Frameshift	Pathogenic	28965616	Exon 10		No
LDLR_1670	c.1495T>C	p.Ser499Pro	LDLR	1	SNV	Missense	Uncertain Significance	12436241	Exon 10		Yes
LDLR_1671	c.1496_1497del	p.Ser499Cysfs*36	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 10		No
LDLR_1672	c.1498del	p.Val500Leufs*7	LDLR	1	Deletion	Frameshift	Pathogenic	28965616	Exon 10		No
LDLR_1673	c.1499T>C	p.Val500Ala	LDLR	1	SNV	Missense	Likely Pathogenic	37719435	Exon 10		Yes
LDLR_1675	c.1502C>T	p.Ala501Val	LDLR	12	SNV	Missense	Likely Pathogenic	16542394, 20006333, 21146822, Show More >>	Exon 10	Xanthomas	Yes
LDLR_1676	c.1502C>A	p.Ala501Glu	LDLR	6	SNV	Missense	Likely Pathogenic	16205024, 16806138, 23375686	Exon 10	Xanthomas, angina	Yes
LDLR_1674	c.1502dup	p.Asp502Glyfs*34	LDLR	3	Duplication	Frameshift	Pathogenic	15241806, 28964736	Exon 10		Yes
LDLR_1677	c.1503G>A	p.Ala501=	LDLR	1	SNV	Silent	Uncertain Significance	20145306	Exon 10		Yes
LDLR_1678	c.1504G>T	p.Asp502Tyr	LDLR	2	SNV	Missense	Uncertain Significance	11810272, 23369702	Exon 10		Yes
LDLR_1680	c.1510A>T	p.Lys504*	LDLR	1	SNV	Nonsense	Pathogenic	22698793	Exon 10		Yes
LDLR_1679	c.1510A>G	p.Lys504Glu	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 10		Yes
LDLR_1682	c.1514G>A	p.Gly505Asp	LDLR	11	SNV	Missense	Likely Pathogenic	12052488, 24785115, 31371270	Exon 10	Xanthomas	Yes
LDLR_1681	c.1514G>C	p.Gly505Ala	LDLR	1	SNV	Missense	Likely Pathogenic	29353225	Exon 10		Yes
LDLR_1683	c.1516dup	p.Val506Glyfs*30	LDLR	1	Duplication	Frameshift	Pathogenic	17347910	Exon 10		Yes
LDLR_1684	c.1516G>A	p.Val506Met	LDLR	1	SNV	Missense	Uncertain Significance	20145306	Exon 10		Yes
LDLR_1685	c.1516_1562del	p.Val506Hisfs*14	LDLR	6	Deletion	Frameshift	Pathogenic	17347910, 27824480	Exon 10		No
LDLR_1686	c.1516_1563del	p.Val506_Ala521del	LDLR	1	Deletion	Deletion	Uncertain Significance	23537714	Exon 10		No
LDLR_1687	c.1519A>G	p.Lys507Glu	LDLR	2	SNV	Missense	Uncertain Significance	20809525, 34692794	Exon 10	Xanthomas, valvular heart disease	Yes
LDLR_1688	c.1520A>C	p.Lys507Thr	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 10		Yes
LDLR_1689	c.1525A>T	p.Lys509*	LDLR	1	SNV	Nonsense	Pathogenic	35560019	Exon 10		No
LDLR_1690	c.1525A>G	p.Lys509Glu	LDLR	5	SNV	Missense	Uncertain Significance	11810272, 29353225, 30637778, Show More >>	Exon 10		Yes
LDLR_1691	c.1528dup	p.Thr510Asnfs*26	LDLR	6	Duplication	Frameshift	Pathogenic	30745271, 31491741	Exon 10		No
LDLR_1692	c.1529C>T	p.Thr510Met	LDLR	6	SNV	Missense	Uncertain Significance	10947889, 16542394, 22698793, Show More >>	Exon 10		Yes
LDLR_1693	c.1530del	p.Leu511Tyrfs*37	LDLR	1	Deletion	Frameshift	Pathogenic	31491741	Exon 10		Yes
LDLR_1694	c.1530_1532del	p.Leu511del	LDLR	1	Deletion	Deletion	Uncertain Significance	33890476	Exon 10		No
LDLR_1695	c.1532T>G	p.Leu511*	LDLR	1	SNV	Nonsense	Pathogenic	20809525	Exon 10		Yes
LDLR_1697	c.1532T>C	p.Leu511Ser	LDLR	3	SNV	Missense	Uncertain Significance	23375686, 24373485, 28458923	Exon 10		Yes
LDLR_1696	c.1532del	p.Leu511Tyrfs*37	LDLR	1	Deletion	Frameshift	Pathogenic	31491741	Exon 10		No
LDLR_1698	c.1533dup	p.Phe512Ilefs*24	LDLR	2	Duplication	Frameshift	Pathogenic	22698793	Exon 10		Yes
LDLR_1699	c.1538G>A	p.Arg513Lys	LDLR	1	SNV	Missense	Uncertain Significance	22698793	Exon 10		Yes
LDLR_1700	c.1540del	p.Glu514Argfs*34	LDLR	2	Deletion	Frameshift	Pathogenic	32759540	Exon 10		No
LDLR_1701	c.1545C>T	p.Asn515=	LDLR	5	SNV	Silent	Uncertain Significance	20145306, 8697568	Exon 10		Yes
LDLR_1702	c.1546G>A	p.Gly516Ser	LDLR	3	SNV	Missense	Uncertain Significance	20809525, 29399563, 31491741	Exon 10		Yes
LDLR_1703	c.1547G>A	p.Gly516Asp	LDLR	1	SNV	Missense	Uncertain Significance	28965616	Exon 10		Yes
LDLR_1704	c.1549T>C	p.Ser517Pro	LDLR	1	SNV	Missense	Uncertain Significance	11810272	Exon 10		Yes
LDLR_1705	c.1549_1555del	p.Ser517Glnfs*29	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 10		No
LDLR_1706	c.1552A>G	p.Lys518Glu	LDLR	7	SNV	Missense	Uncertain Significance	11524740, 22698793, 28502495, Show More >>	Exon 10		Yes
LDLR_1707	c.1553del	p.Lys518Serfs*30	LDLR	1	Deletion	Frameshift	Pathogenic	17426749	Exon 10		No
LDLR_1708	c.1553A>G	p.Lys518Arg	LDLR	1	SNV	Missense	Uncertain Significance	22881376	Exon 10		Yes
LDLR_1709	c.1555C>T	p.Pro519Ser	LDLR	2	SNV	Missense	Uncertain Significance	35047021	Exon 10		Yes
LDLR_1710	c.1558A>G	p.Arg520Gly	LDLR	2	SNV	Missense	Uncertain Significance	12436241, 34297352	Exon 10		Yes
LDLR_1711	c.1561G>A	p.Ala521Thr	LDLR	2	SNV	Missense	Likely Pathogenic	23680767, 33418990	Exon 10		Yes
LDLR_1712	c.1561_1562delinsAT	p.Ala521Ile	LDLR	1	Delins	Missense	Uncertain Significance	27596133	Exon 10		No
LDLR_1713	c.1562C>T	p.Ala521Val	LDLR	5	SNV	Missense	Likely Pathogenic	18718593, 34998859	Exon 10	Corneal arcus, xanthomas	Yes
LDLR_1714	c.1564A>T	p.Ile522Phe	LDLR	3	SNV	Missense	Uncertain Significance	32242544	Exon 10		No
LDLR_1717	c.1567G>T	p.Val523Leu	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 10		Yes
LDLR_1715	c.1567G>C	p.Val523Leu	LDLR	1	SNV	Missense	Likely Pathogenic	26748104	Exon 10		Yes
LDLR_1716	c.1567G>A	p.Val523Met	LDLR	417	SNV	Missense	Pathogenic	34176852, 10978268, 11317362, Show More >>	Exon 10	Coronary artery disease, Myocardial infarction, Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_1718	c.1570G>A	p.Val524Met	LDLR	3	SNV	Missense	Uncertain Significance	19446849, 23375686	Exon 10		Yes
LDLR_1719	c.1570_1579del	p.Val524Phefs*21	LDLR	4	Deletion	Frameshift	Pathogenic	28104544, 28964736	Exon 10		No
LDLR_1720	c.1571T>G	p.Val524Gly	LDLR	2	SNV	Missense	Uncertain Significance	11933210	Exon 10		Yes
LDLR_1721	c.1574A>T	p.Asp525Val	LDLR	4	SNV	Missense	Uncertain Significance	11857755, 16389549, 34297352	Exon 10		Yes
LDLR_1722	c.1576C>A	p.Pro526Thr	LDLR	2	SNV	Missense	Likely Pathogenic	20145306, 25187945	Exon 10		Yes
LDLR_1723	c.1576C>T	p.Pro526Ser	LDLR	8	SNV	Missense	Likely Pathogenic	10208479, 10357843, 11313767, Show More >>	Exon 10		Yes
LDLR_1724	c.1577C>G	p.Pro526Arg	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 10		Yes
LDLR_1725	c.1577C>A	p.Pro526His	LDLR	1	SNV	Missense	Likely Pathogenic	33418990	Exon 10		Yes
LDLR_1726	c.1580T>C	p.Val527Ala	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 10		Yes
LDLR_1727	c.1585G>C	p.Gly529Arg	LDLR	1	SNV	Missense	Likely Pathogenic	38122934	Exon 10		Yes
LDLR_1729	c.1586G>T	p.Gly529Val	LDLR	1	SNV	Missense	Uncertain Significance	36093157	Exon 10		No
LDLR_1728	c.1586G>A	p.Gly529Asp	LDLR	2	SNV	Missense	Likely Pathogenic	21722902, 23375686	Exon 10		Yes
LDLR_1731	c.1586+1G>A	Intronic	LDLR	71	SNV	Splice donor	Pathogenic	10978268, 11317362, 16343504, Show More >>	Intron 10	Coronary artery disease, Xanthomas, coronary artery disease	Yes
LDLR_1730	c.1586+1G>T	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	21376320	Intron 10		Yes
LDLR_1732	c.1586+2T>A	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	26020417	Intron 10		Yes
LDLR_1733	c.1586+2T>C	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	16250003, 19208450	Intron 10		Yes
LDLR_1735	c.1586+5G>C	Intronic	LDLR	5	SNV	Splice region	Uncertain Significance	17964958, 23680767, 27678436, Show More >>	Intron 10	Coronary artery disease, cabg	Yes
LDLR_1734	c.1586+5G>A	Intronic	LDLR	21	SNV	Splice region	Likely Pathogenic	10668928, 16250003, 19446849, Show More >>	Intron 10	Xanthomas, coronary artery disease, cabg	Yes
LDLR_1736	c.1586+16G>A	Intronic	LDLR	1	SNV	Intronic	Benign	24284361	Intron 10		Yes
LDLR_1737	c.1586+53A>G	Intronic	LDLR	1	SNV	Intronic	Benign	30694837	Intron 10		Yes
LDLR_1738	c.1586+154A>G	Intronic	LDLR	1	SNV	Intronic	Benign	24284361	Intron 10		Yes
LDLR_1739	c.1586+450G>C	Intronic	LDLR	1	SNV	Intronic	Benign	24284361	Intron 10		No
LDLR_1740	c.1586+493C>T	Intronic	LDLR	1	SNV	Intronic	Benign	24284361	Intron 10		No
LDLR_1741	c.1586+494G>A	Intronic	LDLR	1	SNV	Intronic	Benign	24284361	Intron 10		No
LDLR_1742	c.1586+1159_1846-896del	Deletion (Exons 11-12)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	23375686	Exons 11-12, Introns 10-12	Xanthomas
LDLR_1743	c.1587-308C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	33601267	Intron 10		No
LDLR_1744	c.1587-10C>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	14974088	Intron 10		No
LDLR_1745	c.1587-5_1617del	Intronic	LDLR	1	Deletion	Splice acceptor	Uncertain Significance	30293936	Intron 10		No
LDLR_1748	c.1587-2A>G	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	12052488, 14656733	Intron 10		Yes
LDLR_1746	c.1587-2A>T	Intronic	LDLR	3	SNV	Splice acceptor	Pathogenic	20809525	Intron 10		Yes
LDLR_1747	c.1587-2del	Intronic	LDLR	1	Deletion	Splice acceptor	Pathogenic	31371270	Intron 10		No
LDLR_1749	c.1587-1G>C	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	26361156	Intron 10		Yes
LDLR_1750	c.1587-1G>A	Intronic	LDLR	8	SNV	Splice acceptor	Pathogenic	34176852, 12417285, 20006333, Show More >>	Intron 10		Yes
LDLR_1751	c.1589_1614del	p.Phe530Serfs*20	LDLR	1	Deletion	Frameshift	Pathogenic	36769678	Exon 11		No
LDLR_1752	c.1591del	p.Met531Cysfs*17	LDLR	1	Deletion	Frameshift	Pathogenic	20091938	Exon 11		No
LDLR_1755	c.1592T>C	p.Met531Thr	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 11		Yes
LDLR_1753	c.1592T>G	p.Met531Arg	LDLR	1	SNV	Missense	Uncertain Significance	27765764	Exon 11		Yes
LDLR_1754	c.1592T>A	p.Met531Lys	LDLR	8	SNV	Missense	Uncertain Significance	17087781, 28502495, 30270083, Show More >>	Exon 11		Yes
LDLR_1756	c.1592_1627del	p.Met531_Ile542del	LDLR	14	Deletion	Deletion	Pathogenic	10422802, 15359125, 34456200	Exon 11		No
LDLR_1757	c.1593del	p.Met531Ilefs*17	LDLR	1	Deletion	Frameshift	Pathogenic	20091938	Exon 11		Yes
LDLR_1758	c.1594T>A	p.Tyr532Asn	LDLR	4	SNV	Missense	Likely Pathogenic	31106925	Exon 11		Yes
LDLR_1759	c.1594_1598del	p.Tyr532Aspfs*2	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 11		No
LDLR_1760	c.1595A>G	p.Tyr532Cys	LDLR	1	SNV	Missense	Likely Pathogenic	28379029	Exon 11		Yes
LDLR_1761	c.1597T>C	p.Trp533Arg	LDLR	10	SNV	Missense	Pathogenic	17087781, 20809525, 28502495, Show More >>	Exon 11		Yes
LDLR_1762	c.1598G>A	p.Trp533*	LDLR	1	SNV	Nonsense	Pathogenic	20809525	Exon 11		Yes
LDLR_1763	c.1599G>A	p.Trp533*	LDLR	6	SNV	Nonsense	Pathogenic	10447263, 20828696, 29213121, Show More >>	Exon 11	Xanthomas, myocardial infarction	Yes
LDLR_1764	c.1600_1608del	p.Thr534_Trp536del	LDLR	5	Deletion	Deletion	Uncertain Significance	10422802, 34456200	Exon 11		No
LDLR_1765	c.1601C>A	p.Thr534Asn	LDLR	2	SNV	Missense	Uncertain Significance	16250003, 33794673	Exon 11		Yes
LDLR_1766	c.1601C>T	p.Thr534Ile	LDLR	1	SNV	Missense	Uncertain Significance	28235710	Exon 11		No
LDLR_1768	c.1603G>T	p.Asp535Tyr	LDLR	3	SNV	Missense	Uncertain Significance	11810272, 7616128, 9543095	Exon 11		Yes
LDLR_1767	c.1603G>A	p.Asp535Asn	LDLR	3	SNV	Missense	Uncertain Significance	27919364	Exon 11		Yes
LDLR_1770	c.1606del	p.Trp536Glyfs*12	LDLR	1	Deletion	Frameshift	Pathogenic	35560019	Exon 11		No
LDLR_1769	c.1606T>G	p.Trp536Gly	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 11		Yes
LDLR_1771	c.1607G>A	p.Trp536*	LDLR	1	SNV	Nonsense	Pathogenic	17539906	Exon 11		Yes
LDLR_1772	c.1609G>T	p.Gly537*	LDLR	13	SNV	Nonsense	Pathogenic	15241806, 28502495, 31153816, Show More >>	Exon 11		Yes
LDLR_1773	c.1610del	p.Gly537Glufs*11	LDLR	2	Deletion	Frameshift	Pathogenic	20809525, 35047021	Exon 11		No
LDLR_1774	c.1610G>T	p.Gly537Val	LDLR	1	SNV	Missense	Uncertain Significance	11741193	Exon 11		No
LDLR_1775	c.1612A>T	p.Thr538Ser	LDLR	1	SNV	Missense	Uncertain Significance	16389549	Exon 11		Yes
LDLR_1776	c.1617C>T	p.Pro539=	LDLR	1	SNV	Silent	Benign	30270082	Exon 11		Yes
LDLR_1778	c.1618G>A	p.Ala540Thr	LDLR	82	SNV	Missense	Pathogenic	11196104, 15200491, 15241806, Show More >>	Exon 11	Coronary artery disease, Coronary artery disease, cabg, valvular heart disease, Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_1779	c.1618G>T	p.Ala540Ser	LDLR	1	SNV	Missense	Likely Pathogenic	16250003	Exon 11		Yes
LDLR_1777	c.1618del	p.Ala540Profs*8	LDLR	1	Deletion	Frameshift	Pathogenic	33418990	Exon 11		No
LDLR_1780	c.1618_1620del	p.Ala540del	LDLR	1	Deletion	Deletion	Uncertain Significance	26020417	Exon 11		No
LDLR_1781	c.1625T>G	p.Ile542Ser	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 11		Yes
LDLR_1782	c.1629_1652del	p.Lys543_Asp551delinsAsn	LDLR	1	Deletion	Deletion	Uncertain Significance	20809525	Exon 11		No
LDLR_1783	c.1630A>T	p.Lys544*	LDLR	1	SNV	Nonsense	Pathogenic	31491741	Exon 11		No
LDLR_1784	c.1631A>C	p.Lys544Thr	LDLR	1	SNV	Missense	Uncertain Significance	28502495	Exon 11		Yes
LDLR_1785	c.1632del	p.Gly546Alafs*2	LDLR	4	Deletion	Frameshift	Pathogenic	20809525	Exon 11		No
LDLR_1787	c.1633G>A	p.Gly545Arg	LDLR	4	SNV	Missense	Likely Pathogenic	20809525, 32423031, 33418990	Exon 11	Coronary artery disease, peripheral vascular disease	Yes
LDLR_1788	c.1633G>C	p.Gly545Arg	LDLR	3	SNV	Missense	Likely Pathogenic	32759540, 34456200	Exon 11		Yes
LDLR_1786	c.1633G>T	p.Gly545Trp	LDLR	3	SNV	Missense	Likely Pathogenic	17765246, 26020417, 38122934	Exon 11		Yes
LDLR_1789	c.1634G>A	p.Gly545Glu	LDLR	24	SNV	Missense	Likely Pathogenic	23535506, 32044282	Exon 11		Yes
LDLR_1790	c.1635G>A	p.Gly545=	LDLR	1	SNV	Silent	Uncertain Significance	26748104	Exon 11		Yes
LDLR_1791	c.1635G>T	p.Gly545=	LDLR	1	SNV	Silent	Uncertain Significance	22881376	Exon 11		No
LDLR_1792	c.1636G>C	p.Gly546Arg	LDLR	1	SNV	Missense	Likely Pathogenic	22859806	Exon 11		Yes
LDLR_1795	c.1637G>T	p.Gly546Val	LDLR	1	SNV	Missense	Likely Pathogenic	21722902	Exon 11		Yes
LDLR_1794	c.1637dup	p.Leu547Profs*12	LDLR	1	Duplication	Frameshift	Pathogenic	8956037	Exon 11		No
LDLR_1796	c.1637G>A	p.Gly546Asp	LDLR	6	SNV	Missense	Likely Pathogenic	11810272, 22883975, 24075752, Show More >>	Exon 11		Yes
LDLR_1793	c.1637del	p.Gly546Alafs*2	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 11		No
LDLR_1797	c.1640T>C	p.Leu547Pro	LDLR	2	SNV	Missense	Likely Pathogenic	28161202	Exon 11		Yes
LDLR_1798	c.1640_1652delinsAGCGTCATCTTCCTGAC	p.Leu547Glnfs*13	LDLR	2	Delins	Frameshift	Pathogenic	8956037	Exon 11	Xanthelasmas, xanthomas, coronary artery disease
LDLR_1799	c.1644T>G	p.Asn548Lys	LDLR	4	SNV	Missense	Uncertain Significance	20809525	Exon 11		Yes
LDLR_1800	c.1644T>A	p.Asn548Lys	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 11		Yes
LDLR_1801	c.1644_1645insC	p.Gly549Argfs*10	LDLR	1	Insertion	Frameshift	Pathogenic	21382890	Exon 11		Yes
LDLR_1802	c.1645_1646insC	p.Gly549Alafs*10	LDLR	3	Insertion	Frameshift	Pathogenic	11810272, 9452078, 9543095	Exon 11		Yes
LDLR_1804	c.1646G>T	p.Gly549Val	LDLR	5	SNV	Missense	Likely Pathogenic	11600564, 11668640, 1301940, Show More >>	Exon 11	Xanthomas, valvular heart disease	Yes
LDLR_1803	c.1646G>A	p.Gly549Asp	LDLR	1070	SNV	Missense	Pathogenic	10357843, 10421221, 10978268, Show More >>	Exon 11	Cardiac rhythm disorder, Cardiovascular disease, Corneal arcus, xanthomas, Coron Show More >>	Yes
LDLR_1805	c.1647dup	p.Val550Cysfs*9	LDLR	1	Duplication	Frameshift	Pathogenic	27596133	Exon 11		Yes
LDLR_1806	c.1648del	p.Val550Trpfs*7	LDLR	1	Deletion	Frameshift	Pathogenic	27596133	Exon 11		Yes
LDLR_1807	c.1649_1668del	p.Val550Aspfs*2	LDLR	1	Deletion	Frameshift	Pathogenic	27596133	Exon 11		No
LDLR_1808	c.1651del	p.Asp551Thrfs*6	LDLR	1	Deletion	Frameshift	Pathogenic	10532689	Exon 11		No
LDLR_1809	c.1652_1662del	p.Asp551Alafs*4	LDLR	1	Deletion	Frameshift	Pathogenic	32331935	Exon 11		No
LDLR_1810	c.1655del	p.Ile552Thrfs*5	LDLR	4	Deletion	Frameshift	Pathogenic	30555118, 31491741, 8225312	Exon 11	Corneal arcus, xanthomas, coronary artery disease, myocardial infarction	Yes
LDLR_1811	c.1656C>G	p.Ile552Met	LDLR	1	SNV	Missense	Uncertain Significance	31491741	Exon 11		No
LDLR_1812	c.1658A>G	p.Tyr553Cys	LDLR	2	SNV	Missense	Uncertain Significance	16250003, 21382890	Exon 11		Yes
LDLR_1813	c.1659_1661delinsATACTTTCA	p.Tyr553*	LDLR	1	Delins	Nonsense	Pathogenic	17765246	Exon 11
LDLR_1814	c.1659_1661delinsATACTTTCA	p.Tyr553_Ser554delins*	LDLR	1	Delins	Nonsense	Pathogenic	17765246	Exon 11		No
LDLR_1815	c.1661C>T	p.Ser554Leu	LDLR	7	SNV	Missense	Uncertain Significance	22353362, 28502495, 33994402, Show More >>	Exon 11		Yes
LDLR_1816	c.1662_1669dup	p.Thr557Serfs*3	LDLR	4	Duplication	Frameshift	Pathogenic	22698793	Exon 11		Yes
LDLR_1817	c.1664T>G	p.Leu555Arg	LDLR	1	SNV	Missense	Likely Pathogenic	28220743	Exon 11		Yes
LDLR_1818	c.1664T>C	p.Leu555Pro	LDLR	5	SNV	Missense	Likely Pathogenic	15241806, 18096825, 7903864	Exon 11		Yes
LDLR_1819	c.1669dup	p.Thr557Asnfs*2	LDLR	1	Duplication	Frameshift	Pathogenic	21310417	Exon 11		No
LDLR_1820	c.1670C>G	p.Thr557Ser	LDLR	1	SNV	Missense	Uncertain Significance	29720182	Exon 11	Xanthelasmas, coronary artery disease	No
LDLR_1821	c.1671_1672del	p.Glu558Lysfs*21	LDLR	4	Deletion	Frameshift	Pathogenic	10422802, 34456200	Exon 11	Corneal arcus, xanthomas	Yes
LDLR_1823	c.1672G>T	p.Glu558*	LDLR	6	SNV	Nonsense	Pathogenic	22698793, 33168860, 33418990, Show More >>	Exon 11	Xanthomas	Yes
LDLR_1822	c.1672G>A	p.Glu558Lys	LDLR	1	SNV	Missense	Uncertain Significance	19062533	Exon 11		No
LDLR_1824	c.1678A>T	p.Ile560Phe	LDLR	4	SNV	Missense	Uncertain Significance	29870584, 32829317, 33794673	Exon 11		Yes
LDLR_1825	c.1681C>T	p.Gln561*	LDLR	6	SNV	Nonsense	Pathogenic	12436241, 17094996, 23680767, Show More >>	Exon 11	Corneal arcus, xanthomas, angina	Yes
LDLR_1826	c.1683del	p.Gln561Hisfs*8	LDLR	1	Deletion	Frameshift	Pathogenic	16250003	Exon 11		Yes
LDLR_1827	c.1683_1690delinsCCCTATGTTCGCAGG	p.Gln561Hisfs*21	LDLR	1	Delins	Frameshift	Pathogenic	35626767	Exon 11		No
LDLR_1828	c.1685G>A	p.Trp562*	LDLR	5	SNV	Nonsense	Pathogenic	20809525, 23054246, 34297352	Exon 11		Yes
LDLR_1829	c.1686G>A	p.Trp562*	LDLR	4	SNV	Nonsense	Pathogenic	15241806, 9383100	Exon 11		Yes
LDLR_1830	c.1686del	p.Trp562Cysfs*7	LDLR	1	Deletion	Frameshift	Pathogenic	33418990	Exon 11		No
LDLR_1831	c.1686G>T	p.Trp562Cys	LDLR	2	SNV	Missense	Likely Pathogenic	28965616, 34297352	Exon 11		Yes
LDLR_1832	c.1686_1693delinsT	p.Trp562Cysfs*5	LDLR	3	Delins	Frameshift	Pathogenic	24373485, 28458923	Exon 11		No
LDLR_1833	c.1687C>T	p.Pro563Ser	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 11		Yes
LDLR_1834	c.1687_1688insG	p.Pro563Argfs*17	LDLR	4	Insertion	Frameshift	Pathogenic	11916007	Exon 11		No
LDLR_1835	c.1688C>A	p.Pro563His	LDLR	3	SNV	Missense	Uncertain Significance	10735632, 11810272, 21382890	Exon 11		Yes
LDLR_1836	c.1688C>T	p.Pro563Leu	LDLR	1	SNV	Missense	Uncertain Significance	32242544	Exon 11		No
LDLR_1837	c.1688_1695del	p.Pro563Hisfs*14	LDLR	1	Deletion	Frameshift	Pathogenic	33269076	Exon 11		No
LDLR_1838	c.1689dup	p.Asn564Glnfs*16	LDLR	9	Duplication	Frameshift	Pathogenic	34176852, 10447263, 12417285, Show More >>	Exon 11		No
LDLR_1839	c.1690A>C	p.Asn564His	LDLR	2790	SNV	Missense	Likely Pathogenic	10090484, 10357843, 10532689, Show More >>	Exon 11	Cardiovascular disease, Coronary artery disease, cabg, Myocardial infarction, pe Show More >>	Yes
LDLR_1840	c.1690A>G	p.Asn564Asp	LDLR	4	SNV	Missense	Likely Pathogenic	16250003, 33992589	Exon 11		Yes
LDLR_1841	c.1691A>G	p.Asn564Ser	LDLR	27	SNV	Missense	Likely Pathogenic	18718593, 20145306, 20538126, Show More >>	Exon 11	Xanthomas, coronary artery disease	Yes
LDLR_1842	c.1693G>C	p.Gly565Arg	LDLR	5	SNV	Missense	Likely Pathogenic	28502495, 33994402	Exon 11		Yes
LDLR_1843	c.1693G>A	p.Gly565Ser	LDLR	1	SNV	Missense	Likely Pathogenic	33418990	Exon 11		Yes
LDLR_1844	c.1694G>A	p.Gly565Asp	LDLR	1	SNV	Missense	Likely Pathogenic	27784735	Exon 11		Yes
LDLR_1846	c.1694G>C	p.Gly565Ala	LDLR	4	SNV	Missense	Likely Pathogenic	11313767, 15556094, 17094996	Exon 11		Yes
LDLR_1845	c.1694G>T	p.Gly565Val	LDLR	8	SNV	Missense	Likely Pathogenic	12436241, 23375686, 28161202, Show More >>	Exon 11		Yes
LDLR_1847	c.1696A>T	p.Ile566Phe	LDLR	4	SNV	Missense	Uncertain Significance	33418990	Exon 11		No
LDLR_1848	c.1697T>C	p.Ile566Thr	LDLR	1	SNV	Missense	Uncertain Significance	27784735	Exon 11		No
LDLR_1849	c.1698_1704delinsGCCCAAT	p.Ile566_Leu568delinsMetProAsn	LDLR	13	Delins	Missense	Uncertain Significance	11317362, 11668640, 16627557, Show More >>	Exon 11		Yes
LDLR_1850	c.1699A>G	p.Thr567Ala	LDLR	1	SNV	Missense	Uncertain Significance	36093157	Exon 11		Yes
LDLR_1851	c.1702C>G	p.Leu568Val	LDLR	90	SNV	Missense	Likely Pathogenic	34176852, 10447263, 18718593, Show More >>	Exon 11	Xanthomas, Xanthomas, coronary artery disease	Yes
LDLR_1852	c.1702C>T	p.Leu568=	LDLR	1	SNV	Silent	Uncertain Significance	19062533	Exon 11		Yes
LDLR_1853	c.1702_1705dup	p.Asp569Alafs*12	LDLR	5	Duplication	Frameshift	Pathogenic	15359125, 34456200	Exon 11		Yes
LDLR_1854	c.1703T>C	p.Leu568Pro	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 11		Yes
LDLR_1855	c.1705G>T	p.Asp569Tyr	LDLR	2	SNV	Missense	Uncertain Significance	20809525, 21957200	Exon 11		Yes
LDLR_1856	c.1705G>A	p.Asp569Asn	LDLR	1	SNV	Missense	Uncertain Significance	34456200	Exon 11		Yes
LDLR_1859	c.1705+1G>C	Intronic	LDLR	6	SNV	Splice donor	Pathogenic	11916007, 34176852	Intron 11		Yes
LDLR_1858	c.1705+1G>A	Intronic	LDLR	8	SNV	Splice donor	Pathogenic	10532689, 17406740, 19208450, Show More >>	Intron 11		Yes
LDLR_1857	c.1705+1G>T	Intronic	LDLR	12	SNV	Splice donor	Pathogenic	11195242, 11916007, 16542394, Show More >>	Intron 11		Yes
LDLR_1860	c.1705+2_1705+3insC	Intronic	LDLR	1	Insertion	Splice region	Pathogenic	20809525	Intron 11		Yes
LDLR_1861	c.1705+3del	Intronic	LDLR	1	Deletion	Splice region	Uncertain Significance	33418990	Intron 11		No
LDLR_1862	c.1705+56C>T	Intronic	LDLR	1	SNV	Intronic	Benign	30270082	Intron 11		Yes
LDLR_1863	c.1705+112C>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	21418584	Intron 11		Yes
LDLR_1864	c.1705+117T>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	21418584	Intron 11		No
LDLR_1865	c.1706-81C>T	Intronic	LDLR	1	SNV	Intronic	Benign	24284361	Intron 11		No
LDLR_1866	c.1706-69G>T	Intronic	LDLR	1	SNV	Intronic	Benign	25606447	Intron 11		Yes
LDLR_1867	c.1706-63C>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	28873201	Intron 11		No
LDLR_1868	c.1706-55A>C	Intronic	LDLR	1	SNV	Intronic	Benign	25606447	Intron 11		Yes
LDLR_1869	c.1706-23T>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20809525	Intron 11		Yes
LDLR_1870	c.1706-10G>A	Intronic	LDLR	1	SNV	Intronic	Benign	18096825	Intron 11		Yes
LDLR_1873	c.1706-2A>C	Intronic	LDLR	1	SNV	Splice acceptor	Likely Pathogenic	35052492	Intron 11		Yes
LDLR_1871	c.1706-2A>T	Intronic	LDLR	29	SNV	Splice acceptor	Pathogenic	20809525, 22129472, 29172679	Intron 11	Xanthomas	Yes
LDLR_1872	c.1706-2A>G	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	35052492	Intron 11		Yes
LDLR_1874	c.1706-1G>A	Intronic	LDLR	6	SNV	Splice acceptor	Pathogenic	16159606, 26875521, 30270083, Show More >>	Intron 11		Yes
LDLR_1875	c.1706-1G>C	Intronic	LDLR	3	SNV	Splice acceptor	Pathogenic	26361156, 33955087	Intron 11		Yes
LDLR_1876	c.1706-1G>T	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	23680767, 9763532	Intron 11		Yes
LDLR_1877	c.1706A>G	p.Asp569Gly	LDLR	7	SNV	Missense	Uncertain Significance	31491741, 32331935, 34176852	Exon 12		Yes
LDLR_1878	c.1708C>T	p.Leu570Phe	LDLR	1	SNV	Missense	Uncertain Significance	31689621	Exon 12		No
LDLR_1879	c.1711_1713del	p.Leu571del	LDLR	1	Deletion	Deletion	Uncertain Significance	33418990	Exon 12		No
LDLR_1880	c.1714_1715del	p.Ser572Trpfs*7	LDLR	2	Deletion	Frameshift	Pathogenic	34456200	Exon 12		No
LDLR_1882	c.1715G>A	p.Ser572Asn	LDLR	1	SNV	Missense	Uncertain Significance	11810272	Exon 12		Yes
LDLR_1881	c.1715del	p.Ser572Metfs*93	LDLR	1	Deletion	Frameshift	Pathogenic	34456200	Exon 12		No
LDLR_1883	c.1715_1718del	p.Ser572Thrfs*92	LDLR	1	Deletion	Frameshift	Pathogenic	34456200	Exon 12		No
LDLR_1884	c.1715_1719delinsA	p.Ser572Asnfs*92	LDLR	4	Delins	Frameshift	Pathogenic	10208479, 11313767, 22883975, Show More >>	Exon 12		No
LDLR_1885	c.1715_1720delinsA	p.Ser572Lysfs*6	LDLR	1	Delins	Frameshift	Pathogenic	34456200	Exon 12		No
LDLR_1886	c.1718del	p.Gly573Alafs*92	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 12		No
LDLR_1888	c.1720C>A	p.Arg574Ser	LDLR	6	SNV	Missense	Likely Pathogenic	28028493, 28235710, 29720182	Exon 12		No
LDLR_1887	c.1720C>T	p.Arg574Cys	LDLR	9	SNV	Missense	Likely Pathogenic	11462246, 19446849, 20145306, Show More >>	Exon 12		Yes
LDLR_1889	c.1721G>A	p.Arg574His	LDLR	10	SNV	Missense	Likely Pathogenic	20018285, 23375686, 25461735, Show More >>	Exon 12		Yes
LDLR_1890	c.1721G>T	p.Arg574Leu	LDLR	2	SNV	Missense	Likely Pathogenic	22698793, 35474963	Exon 12		Yes
LDLR_1891	c.1723C>T	p.Leu575Phe	LDLR	10	SNV	Missense	Uncertain Significance	27830735, 28502495, 30827231, Show More >>	Exon 12		Yes
LDLR_1892	c.1724T>C	p.Leu575Pro	LDLR	2	SNV	Missense	Uncertain Significance	27932355, 31241493	Exon 12	Xanthomas	Yes
LDLR_1893	c.1725C>T	p.Leu575=	LDLR	1	SNV	Silent	Benign	30270082	Exon 12		Yes
LDLR_1894	c.1726T>C	p.Tyr576His	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 12		No
LDLR_1895	c.1726del	p.Tyr576Thrfs*89	LDLR	5	Deletion	Frameshift	Pathogenic	28502495, 33994402	Exon 12		No
LDLR_1897	c.1727A>C	p.Tyr576Ser	LDLR	12	SNV	Missense	Likely Pathogenic	20809525, 34407635	Exon 12		Yes
LDLR_1896	c.1727A>G	p.Tyr576Cys	LDLR	1	SNV	Missense	Likely Pathogenic	32706999	Exon 12		Yes
LDLR_1898	c.1728C>T	p.Tyr576=	LDLR	1	SNV	Silent	Uncertain Significance	19062533	Exon 12		No
LDLR_1899	c.1729T>C	p.Trp577Arg	LDLR	107	SNV	Missense	Likely Pathogenic	11013454, 11810272, 12436241, Show More >>	Exon 12	Corneal arcus, xanthomas, coronary artery disease, Corneal arcus, xanthomas, cor Show More >>	Yes
LDLR_1900	c.1729T>G	p.Trp577Gly	LDLR	17	SNV	Missense	Likely Pathogenic	10208484, 17347910, 27206941, Show More >>	Exon 12	Coronary artery disease, Xanthomas, Xanthomas, peripheral vascular disease	Yes
LDLR_1901	c.1730G>C	p.Trp577Ser	LDLR	33	SNV	Missense	Pathogenic	10532689, 11810272, 16542394, Show More >>	Exon 12		Yes
LDLR_1902	c.1730G>A	p.Trp577*	LDLR	5	SNV	Nonsense	Pathogenic	23680767, 26802169, 32331935, Show More >>	Exon 12		Yes
LDLR_1903	c.1730_1738del	p.Trp577_Asp579del	LDLR	1	Deletion	Deletion	Uncertain Significance	20809525	Exon 12		No
LDLR_1904	c.1731G>T	p.Trp577Cys	LDLR	13	SNV	Missense	Pathogenic	34176852, 20006333, 21146822, Show More >>	Exon 12	Corneal arcus, xanthomas, Coronary artery disease, Xanthomas, peripheral vascular disease	Yes
LDLR_1905	c.1731G>A	p.Trp577*	LDLR	3	SNV	Nonsense	Pathogenic	30112042	Exon 12	Corneal arcus, xanthomas, angina, coronary artery disease, peripheral vascular disease	Yes
LDLR_1906	c.1731G>C	p.Trp577Cys	LDLR	1	SNV	Missense	Pathogenic	34297352	Exon 12		Yes
LDLR_1907	c.1732G>A	p.Val578Ile	LDLR	1	SNV	Missense	Uncertain Significance	34869944	Exon 12		Yes
LDLR_1908	c.1735G>T	p.Asp579Tyr	LDLR	111	SNV	Missense	Likely Pathogenic	10978268, 15135251, 19446849, Show More >>	Exon 12		Yes
LDLR_1909	c.1735G>A	p.Asp579Asn	LDLR	11	SNV	Missense	Pathogenic	1301956, 16542394, 28965616, Show More >>	Exon 12		Yes
LDLR_1912	c.1736A>C	p.Asp579Ala	LDLR	7	SNV	Missense	Likely Pathogenic	16806138	Exon 12	Xanthomas, coronary artery disease	Yes
LDLR_1911	c.1736A>T	p.Asp579Val	LDLR	1	SNV	Missense	Likely Pathogenic	31689621	Exon 12		Yes
LDLR_1910	c.1736A>G	p.Asp579Gly	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 12		Yes
LDLR_1913	c.1737del	p.Ser580Profs*85	LDLR	4	Deletion	Frameshift	Pathogenic	20809525	Exon 12		Yes
LDLR_1914	c.1737C>G	p.Asp579Glu	LDLR	3	SNV	Missense	Likely Pathogenic	26892515	Exon 12		Yes
LDLR_1915	c.1739C>T	p.Ser580Phe	LDLR	12	SNV	Missense	Likely Pathogenic	21865347, 31947532, 34297352	Exon 12		Yes
LDLR_1916	c.1739C>A	p.Ser580Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	33955087	Exon 12		No
LDLR_1917	c.1741A>T	p.Lys581*	LDLR	1	SNV	Nonsense	Pathogenic	28379029	Exon 12		Yes
LDLR_1918	c.1741A>C	p.Lys581Gln	LDLR	1	SNV	Missense	Likely Pathogenic	32423031	Exon 12		No
LDLR_1919	c.1744C>T	p.Leu582Phe	LDLR	1	SNV	Missense	Uncertain Significance	27830735	Exon 12		Yes
LDLR_1920	c.1745T>C	p.Leu582Pro	LDLR	10	SNV	Missense	Uncertain Significance	11668627, 15576851, 27765764, Show More >>	Exon 12		Yes
LDLR_1922	c.1747C>A	p.His583Asn	LDLR	1	SNV	Missense	Uncertain Significance	15741231	Exon 12		No
LDLR_1921	c.1747C>G	p.His583Asp	LDLR	1	SNV	Missense	Likely Pathogenic	23375686	Exon 12		Yes
LDLR_1923	c.1747C>T	p.His583Tyr	LDLR	248	SNV	Missense	Likely Pathogenic	16092059, 16205024, 17087781, Show More >>	Exon 12	Cardiovascular disease, Xanthomas, Xanthomas, coronary artery disease, Xanthomas, valvular heart disease	Yes
LDLR_1924	c.1748A>G	p.His583Arg	LDLR	1	SNV	Missense	Likely Pathogenic	22698793	Exon 12		Yes
LDLR_1925	c.1748A>T	p.His583Leu	LDLR	1	SNV	Missense	Uncertain Significance	18847225	Exon 12		No
LDLR_1926	c.1749C>G	p.His583Gln	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 12		Yes
LDLR_1928	c.1749del	p.Ser584Profs*81	LDLR	1	Deletion	Frameshift	Pathogenic	19446849	Exon 12		No
LDLR_1927	c.1749C>A	p.His583Gln	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 12		Yes
LDLR_1929	c.1749_1753del	p.Ser584Leufs*17	LDLR	3	Deletion	Frameshift	Pathogenic	19446849, 20809525, 23375686	Exon 12		No
LDLR_1930	c.1750T>C	p.Ser584Pro	LDLR	2	SNV	Missense	Likely Pathogenic	33418990, 34074024	Exon 12		Yes
LDLR_1931	c.1752del	p.Ile585Serfs*80	LDLR	1	Deletion	Frameshift	Pathogenic	11524740	Exon 12		No
LDLR_1933	c.1754T>C	p.Ile585Thr	LDLR	9	SNV	Missense	Likely Pathogenic	17347910, 24785115, 31371270, Show More >>	Exon 12	Xanthomas, peripheral vascular disease	Yes
LDLR_1932	c.1754T>A	p.Ile585Asn	LDLR	2	SNV	Missense	Likely Pathogenic	16250003, 30795984	Exon 12		Yes
LDLR_1934	c.1756del	p.Ser586Glnfs*79	LDLR	1	Deletion	Frameshift	Pathogenic	20828696	Exon 12		Yes
LDLR_1935	c.1756T>C	p.Ser586Pro	LDLR	4	SNV	Missense	Uncertain Significance	32423031, 33418990	Exon 12		Yes
LDLR_1937	c.1757C>A	p.Ser586*	LDLR	1	SNV	Nonsense	Pathogenic	27830735	Exon 12		Yes
LDLR_1936	c.1757C>G	p.Ser586*	LDLR	1	SNV	Nonsense	Pathogenic	18718593	Exon 12	Xanthomas	Yes
LDLR_1938	c.1759del	p.Ser587Alafs*78	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 12		No
LDLR_1939	c.1760dupG	p.Ser587Argfs*16	LDLR	2	Duplication	Frameshift	Pathogenic	36685950	Exon 12	Corneal arcus, xanthelasmas, xanthomas, angina, cardiovascular disease, coronary artery disease, cabg
LDLR_1940	c.1760dup	p.Ser587Argfs*16	LDLR	1	Duplication	Frameshift	Pathogenic	11810272	Exon 12		No
LDLR_1941	c.1761C>G	p.Ser587Arg	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 12		Yes
LDLR_1942	c.1765G>A	p.Asp589Asn	LDLR	73	SNV	Missense	Uncertain Significance	16250003, 17087781, 20538126, Show More >>	Exon 12	Cardiovascular disease, Xanthomas	Yes
LDLR_1943	c.1765G>C	p.Asp589His	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 12		Yes
LDLR_1944	c.1765G>T	p.Asp589Tyr	LDLR	1	SNV	Missense	Uncertain Significance	29399563	Exon 12		Yes
LDLR_1945	c.1766del	p.Asp589Valfs*76	LDLR	1	Deletion	Frameshift	Pathogenic	16389549	Exon 12		Yes
LDLR_1946	c.1772A>G	p.Asn591Ser	LDLR	1	SNV	Missense	Uncertain Significance	31491741	Exon 12		No
LDLR_1947	c.1773C>T	p.Asn591=	LDLR	1	SNV	Silent	Benign	30270082	Exon 12		Yes
LDLR_1949	c.1774G>A	p.Gly592Arg	LDLR	4	SNV	Missense	Likely Pathogenic	27932355, 34428338, 35910211	Exon 12		Yes
LDLR_1948	c.1774G>T	p.Gly592Trp	LDLR	1	SNV	Missense	Likely Pathogenic	33418990	Exon 12		No
LDLR_1951	c.1775G>A	p.Gly592Glu	LDLR	899	SNV	Missense	Pathogenic	10978268, 11139254, 11317361, Show More >>	Exon 12	Angina, coronary artery disease, Cardiovascular disease, valvular heart disease, Show More >>	Yes
LDLR_1950	c.1775G>C	p.Gly592Ala	LDLR	1	SNV	Missense	Uncertain Significance	27998977	Exon 12		No
LDLR_1952	c.1776_1778del	p.Gly593del	LDLR	4	Deletion	Deletion	Uncertain Significance	22883975, 23054246, 24075752	Exon 12		No
LDLR_1953	c.1778del	p.Gly593Alafs*72	LDLR	133	Deletion	Frameshift	Pathogenic	10559517, 10634824, 10978268, Show More >>	Exon 12	Xanthomas, coronary artery disease	No
LDLR_1954	c.1778dup	p.Asn594Glnfs*9	LDLR	11	Duplication	Frameshift	Pathogenic	34176852, 20006333, 21146822, Show More >>	Exon 12		No
LDLR_1955	c.1779del	p.Asn594Thrfs*71	LDLR	1	Deletion	Frameshift	Pathogenic	9763532	Exon 12		Yes
LDLR_1956	c.1783del	p.Arg595Glyfs*70	LDLR	1	Deletion	Frameshift	Pathogenic	15556092	Exon 12		No
LDLR_1957	c.1783C>T	p.Arg595Trp	LDLR	39	SNV	Missense	Likely Pathogenic	11737238, 12492446, 15241806, Show More >>	Exon 12		Yes
LDLR_1959	c.1784G>T	p.Arg595Leu	LDLR	3	SNV	Missense	Likely Pathogenic	16250003, 29974534	Exon 12		Yes
LDLR_1958	c.1784G>A	p.Arg595Gln	LDLR	18	SNV	Missense	Likely Pathogenic	15359125, 16250003, 18718593, Show More >>	Exon 12		Yes
LDLR_1960	c.1784_1790del	p.Arg595Profs*68	LDLR	1	Deletion	Frameshift	Pathogenic	20145306	Exon 12		No
LDLR_1961	c.1786A>T	p.Lys596*	LDLR	2	SNV	Nonsense	Pathogenic	10532689, 11196104	Exon 12		Yes
LDLR_1962	c.1789del	p.Thr597Profs*68	LDLR	1	Deletion	Frameshift	Pathogenic	16250003	Exon 12		Yes
LDLR_1963	c.1792A>C	p.Ile598Leu	LDLR	2	SNV	Missense	Uncertain Significance	11810272, 21382890	Exon 12		Yes
LDLR_1965	c.1793T>A	p.Ile598Asn	LDLR	3	SNV	Missense	Uncertain Significance	11810272, 9157944	Exon 12		Yes
LDLR_1964	c.1793T>C	p.Ile598Thr	LDLR	2	SNV	Missense	Uncertain Significance	20809525	Exon 12		Yes
LDLR_1966	c.1796T>C	p.Leu599Ser	LDLR	5	SNV	Missense	Likely Pathogenic	12436241, 1301956, 1484944, Show More >>	Exon 12		Yes
LDLR_1967	c.1798G>T	p.Glu600*	LDLR	1	SNV	Nonsense	Pathogenic	23375686	Exon 12		Yes
LDLR_1968	c.1800G>C	p.Glu600Asp	LDLR	3	SNV	Missense	Uncertain Significance	18096825, 28964736, 29396260	Exon 12		Yes
LDLR_1969	c.1800_1806del	p.Asp601Argfs*62	LDLR	1	Deletion	Frameshift	Pathogenic	10208479	Exon 12		No
LDLR_1970	c.1801G>C	p.Asp601His	LDLR	12	SNV	Missense	Likely Pathogenic	11933210, 25461735, 33231818, Show More >>	Exon 12		Yes
LDLR_1972	c.1802A>T	p.Asp601Val	LDLR	4	SNV	Missense	Likely Pathogenic	26020417	Exon 12		Yes
LDLR_1971	c.1802dup	p.Asp601Glufs*2	LDLR	1	Duplication	Frameshift	Pathogenic	10208479	Exon 12		Yes
LDLR_1973	c.1804G>T	p.Glu602*	LDLR	2	SNV	Nonsense	Pathogenic	25461735	Exon 12		Yes
LDLR_1974	c.1807A>T	p.Lys603*	LDLR	9	SNV	Nonsense	Pathogenic	20538126, 21376320, 28502495, Show More >>	Exon 12		Yes
LDLR_1975	c.1808A>T	p.Lys603Met	LDLR	1	SNV	Missense	Uncertain Significance	24103783	Exon 12		No
LDLR_1976	c.1813C>G	p.Leu605Val	LDLR	1	SNV	Missense	Uncertain Significance	19062533	Exon 12		No
LDLR_1977	c.1813C>T	p.Leu605=	LDLR	8	SNV	Silent	Pathogenic	20809525, 25624525, 32911577	Exon 12	Corneal arcus	Yes
LDLR_1979	c.1814T>C	p.Leu605Pro	LDLR	2	SNV	Missense	Uncertain Significance	10782930, 22883975	Exon 12		Yes
LDLR_1978	c.1814T>G	p.Leu605Arg	LDLR	1	SNV	Missense	Uncertain Significance	19062533	Exon 12		No
LDLR_1980	c.1815_1825del	p.Ala606Leufs*6	LDLR	2	Deletion	Frameshift	Pathogenic	15241806	Exon 12		No
LDLR_1981	c.1816del	p.Ala606Profs*59	LDLR	1	Deletion	Frameshift	Pathogenic	30293936	Exon 12		No
LDLR_1982	c.1816G>A	p.Ala606Thr	LDLR	4	SNV	Missense	Uncertain Significance	17087781, 27784735, 30312929, Show More >>	Exon 12
LDLR_1983	c.1816G>T	p.Ala606Ser	LDLR	14	SNV	Missense	Uncertain Significance	14974088, 16250003, 17765246, Show More >>	Exon 12	Myocardial infarction	Yes
LDLR_1984	c.1819C>T	p.His607Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	31491741	Exon 12		Yes
LDLR_1986	c.1820A>G	p.His607Arg	LDLR	1	SNV	Missense	Likely Pathogenic	36499307	Exon 12		Yes
LDLR_1985	c.1820A>T	p.His607Leu	LDLR	1	SNV	Missense	Uncertain Significance	18847225	Exon 12		No
LDLR_1987	c.1820_1822dup	p.His607dup	LDLR	1	Duplication	In-frame duplication	Uncertain Significance	29572815	Exon 12		No
LDLR_1989	c.1822C>T	p.Pro608Ser	LDLR	6	SNV	Missense	Likely Pathogenic	22698793, 9852677	Exon 12		Yes
LDLR_1988	c.1822C>A	p.Pro608Thr	LDLR	4	SNV	Missense	Likely Pathogenic	20145306, 25187945, 26666465, Show More >>	Exon 12		Yes
LDLR_1991	c.1823C>T	p.Pro608Leu	LDLR	5	SNV	Missense	Likely Pathogenic	11313767, 11851376, 16250003, Show More >>	Exon 12	Corneal arcus, xanthelasmas, xanthomas, angina, myocardial infarction, valvular heart disease	Yes
LDLR_1990	c.1823C>G	p.Pro608Arg	LDLR	2	SNV	Missense	Likely Pathogenic	17094996, 9409298, 9544745	Exon 12		Yes
LDLR_1992	c.1825T>C	p.Phe609Leu	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 12		Yes
LDLR_1994	c.1829C>T	p.Ser610Phe	LDLR	3	SNV	Missense	Likely Pathogenic	10532689, 16542394, 31491741	Exon 12		Yes
LDLR_1993	c.1829C>G	p.Ser610Cys	LDLR	3	SNV	Missense	Likely Pathogenic	22698793	Exon 12		Yes
LDLR_1995	c.1829_1831del	p.Ser610del	LDLR	6	Deletion	Deletion	Uncertain Significance	20809525	Exon 12		No
LDLR_1996	c.1832dup	p.Leu611Phefs*5	LDLR	1	Duplication	Frameshift	Pathogenic	19843101	Exon 12		No
LDLR_1997	c.1833G>C	p.Leu611Phe	LDLR	2	SNV	Missense	Uncertain Significance	21382890, 27765764	Exon 12		Yes
LDLR_1998	c.1833G>T	p.Leu611Phe	LDLR	1	SNV	Missense	Uncertain Significance	11313767	Exon 12		Yes
LDLR_1999	c.1833_1841del	p.Leu611_Val613del	LDLR	1	Deletion	Deletion	Uncertain Significance	26020417	Exon 12		No
LDLR_2000	c.1834G>T	p.Ala612Ser	LDLR	5	SNV	Missense	Uncertain Significance	20145306, 26892515, 27824480, Show More >>	Exon 12		Yes
LDLR_2001	c.1835C>G	p.Ala612Gly	LDLR	1	SNV	Missense	Uncertain Significance	19062533	Exon 12		No
LDLR_2002	c.1836C>A	p.Ala612=	LDLR	1	SNV	Silent	Uncertain Significance	28145427	Exon 12		Yes
LDLR_2003	c.1836C>T	p.Ala612=	LDLR	1	SNV	Silent	Uncertain Significance	20145306	Exon 12		Yes
LDLR_2004	c.1837G>A	p.Val613Ile	LDLR	2	SNV	Missense	Uncertain Significance	16250003, 19837725	Exon 12		Yes
LDLR_2005	c.1840T>A	p.Phe614Ile	LDLR	1	SNV	Missense	Likely Pathogenic	17765246	Exon 12		Yes
LDLR_2006	c.1843G>A	p.Glu615Lys	LDLR	1	SNV	Missense	Uncertain Significance	11810272	Exon 12		Yes
LDLR_2007	c.1844A>T	p.Glu615Val	LDLR	7	SNV	Missense	Uncertain Significance	20809525	Exon 12		Yes
LDLR_2008	c.1844A>G	p.Glu615Gly	LDLR	2	SNV	Missense	Uncertain Significance	35222550	Exon 12		No
LDLR_2009	c.1845G>A	p.Glu615=	LDLR	1	SNV	Silent	Uncertain Significance	32220565	Exon 12		Yes
LDLR_2012	c.1845+1G>A	Intronic	LDLR	39	SNV	Splice donor	Pathogenic	15556094, 18718593, 20144596, Show More >>	Intron 12		Yes
LDLR_2013	c.1845+1G>T	Intronic	LDLR	3	SNV	Splice donor	Pathogenic	10947889, 11668640, 22698793	Intron 12		Yes
LDLR_2011	c.1845+1G>C	Intronic	LDLR	176	SNV	Splice donor	Pathogenic	10790219, 15241806, 16627557, Show More >>	Intron 12		Yes
LDLR_2010	c.1845+1del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	17765246	Intron 12		No
LDLR_2014	c.1845+2del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	32044282	Intron 12		Yes
LDLR_2015	c.1845+2T>C	Intronic	LDLR	193	SNV	Splice donor	Pathogenic	34176852, 10447263, 12227864, Show More >>	Intron 12	Xanthomas, Xanthomas, coronary artery disease, Xanthomas, coronary artery disease, myocardial infarction	Yes
LDLR_2016	c.1845+11C>G	Intronic	LDLR	7	SNV	Intronic	Pathogenic	16159606, 17094996, 25682026	Intron 12		Yes
LDLR_2017	c.1845+15C>A	Intronic	LDLR	2	SNV	Intronic	Uncertain Significance	15576851, 27765764	Intron 12		Yes
LDLR_2018	c.1845+1200_2141-1154del	Deletion (Exons 13-14)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	23375686, 35795214	Exons 13-14, Introns 12-14	Xanthomas, coronary artery disease
LDLR_2019	c.1846-48C>T	Intronic	LDLR	1	SNV	Intronic	Benign	28873201	Intron 12		No
LDLR_2020	c.1846-10G>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	27765764	Intron 12		Yes
LDLR_2021	c.1846-3T>G	Intronic	LDLR	2	SNV	Splice region	Uncertain Significance	32423031, 33418990	Intron 12		Yes
LDLR_2022	c.1846-2A>C	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	20145306, 35741760	Intron 12		Yes
LDLR_2024	c.1846-1G>A	Intronic	LDLR	66	SNV	Splice acceptor	Pathogenic	10208484, 10532689, 10978268, Show More >>	Intron 12	Coronary artery disease, Xanthomas, coronary artery disease	Yes
LDLR_2023	c.1846-1G>C	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	17347910	Intron 12		Yes
LDLR_2025	c.1851del	p.Val618Tyrfs*47	LDLR	2	Deletion	Frameshift	Pathogenic	23430853	Exon 13		No
LDLR_2027	c.1853T>C	p.Val618Ala	LDLR	1	SNV	Missense	Uncertain Significance	38658794	Exon 13		No
LDLR_2026	c.1853T>G	p.Val618Gly	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 13		Yes
LDLR_2028	c.1853_1864del	p.Val618_Thr621del	LDLR	3	Deletion	Deletion	Uncertain Significance	20538126, 21376320, 33994402	Exon 13		No
LDLR_2029	c.1855T>C	p.Phe619Leu	LDLR	5	SNV	Missense	Likely Pathogenic	17094996, 29720182, 34998859, Show More >>	Exon 13	Corneal arcus, xanthomas	Yes
LDLR_2030	c.1855_1856insA	p.Phe619Tyrfs*26	LDLR	1	Insertion	Frameshift	Pathogenic	15701167	Exon 13		Yes
LDLR_2031	c.1856T>C	p.Phe619Ser	LDLR	2	SNV	Missense	Uncertain Significance	20809525	Exon 13		Yes
LDLR_2032	c.1856T>G	p.Phe619Cys	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 13		Yes
LDLR_2033	c.1858T>C	p.Trp620Arg	LDLR	2	SNV	Missense	Likely Pathogenic	17094996, 9409298, 9544745	Exon 13	Xanthomas	Yes
LDLR_2034	c.1859G>C	p.Trp620Ser	LDLR	1	SNV	Missense	Likely Pathogenic	28458923	Exon 13		Yes
LDLR_2035	c.1859G>A	p.Trp620*	LDLR	3	SNV	Nonsense	Pathogenic	11737238, 23375686	Exon 13		Yes
LDLR_2038	c.1860G>A	p.Trp620*	LDLR	5	SNV	Nonsense	Pathogenic	20809525, 25846081, 28235710, Show More >>	Exon 13		Yes
LDLR_2036	c.1860G>T	p.Trp620Cys	LDLR	1	SNV	Missense	Likely Pathogenic	17539906	Exon 13		Yes
LDLR_2037	c.1860G>C	p.Trp620Cys	LDLR	1	SNV	Missense	Likely Pathogenic	17539906	Exon 13		Yes
LDLR_2040	c.1862C>G	p.Thr621Arg	LDLR	2	SNV	Missense	Likely Pathogenic	26892515	Exon 13	Xanthomas	Yes
LDLR_2039	c.1862C>A	p.Thr621Lys	LDLR	1	SNV	Missense	Uncertain Significance	31491741	Exon 13		No
LDLR_2042	c.1864G>T	p.Asp622Tyr	LDLR	11	SNV	Missense	Likely Pathogenic	27830735, 30400955, 32759540	Exon 13		No
LDLR_2041	c.1864G>A	p.Asp622Asn	LDLR	8	SNV	Missense	Likely Pathogenic	15701167, 22698793, 27824480, Show More >>	Exon 13	Corneal arcus, xanthomas, coronary artery disease, myocardial infarction, Xanthomas	Yes
LDLR_2044	c.1865A>G	p.Asp622Gly	LDLR	3	SNV	Missense	Likely Pathogenic	22698793, 35052492	Exon 13		Yes
LDLR_2043	c.1865A>C	p.Asp622Ala	LDLR	2	SNV	Missense	Uncertain Significance	16159606, 34456200	Exon 13		Yes
LDLR_2045	c.1867dup	p.Ile623Asnfs*22	LDLR	1	Duplication	Frameshift	Pathogenic	34573395	Exon 13		Yes
LDLR_2046	c.1867A>T	p.Ile623Phe	LDLR	2	SNV	Missense	Uncertain Significance	30637778, 30971288	Exon 13		Yes
LDLR_2048	c.1867del	p.Ile623Serfs*42	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 13		No
LDLR_2047	c.1867A>G	p.Ile623Val	LDLR	29	SNV	Missense	Uncertain Significance	16205024, 28502495, 33994402, Show More >>	Exon 13	Coronary artery disease, stroke, Xanthomas	Yes
LDLR_2049	c.1867_1868del	p.Ile623Hisfs*21	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 13		No
LDLR_2051	c.1868del	p.Ile623Thrfs*42	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 13		No
LDLR_2050	c.1868T>C	p.Ile623Thr	LDLR	2	SNV	Missense	Uncertain Significance	27765764	Exon 13		Yes
LDLR_2052	c.1871_1873del	p.Ile624del	LDLR	56	Deletion	Deletion	Likely Pathogenic	34176852, 11668640, 12417285, Show More >>	Exon 13		No
LDLR_2053	c.1872del	p.Asn625Thrfs*40	LDLR	2	Deletion	Frameshift	Pathogenic	11857755, 15556094	Exon 13		Yes
LDLR_2054	c.1873_1874insGC	p.Asn625Serfs*41	LDLR	1	Insertion	Frameshift	Pathogenic	19118540	Exon 13		No
LDLR_2055	c.1874A>C	p.Asn625Thr	LDLR	1	SNV	Missense	Uncertain Significance	11462246	Exon 13	Xanthomas	Yes
LDLR_2057	c.1875C>T	p.Asn625=	LDLR	2	SNV	Silent	Uncertain Significance	17347910	Exon 13		Yes
LDLR_2056	c.1875C>G	p.Asn625Lys	LDLR	1	SNV	Missense	Uncertain Significance	38236436	Exon 13		No
LDLR_2058	c.1876G>A	p.Glu626Lys	LDLR	11	SNV	Missense	Likely Pathogenic	16250003, 20828696, 27596133, Show More >>	Exon 13	Cardiovascular disease	Yes
LDLR_2059	c.1878del	p.Ala627Profs*38	LDLR	4	Deletion	Frameshift	Pathogenic	17215532, 19026292, 31578082, Show More >>	Exon 13	Coronary artery disease, peripheral vascular disease	No
LDLR_2060	c.1879G>A	p.Ala627Thr	LDLR	77	SNV	Missense	Likely Pathogenic	16092059, 19020990, 20538126, Show More >>	Exon 13	Corneal arcus, xanthomas, angina, cardiovascular disease, coronary artery diseas Show More >>	Yes
LDLR_2062	c.1880C>A	p.Ala627Asp	LDLR	2	SNV	Missense	Likely Pathogenic	17094996, 22883975	Exon 13		Yes
LDLR_2061	c.1880C>T	p.Ala627Val	LDLR	1	SNV	Missense	Likely Pathogenic	9763532	Exon 13		Yes
LDLR_2063	c.1883T>C	p.Ile628Thr	LDLR	1	SNV	Missense	Uncertain Significance	15199436	Exon 13		Yes
LDLR_2064	c.1885T>G	p.Phe629Val	LDLR	1	SNV	Missense	Uncertain Significance	22883975	Exon 13		Yes
LDLR_2065	c.1885_1886insA	p.Phe629Tyrfs*16	LDLR	4	Insertion	Frameshift	Pathogenic	24529145, 25461735	Exon 13		Yes
LDLR_2066	c.1885_1889delinsGATCATCAACC	p.Phe629_Ser630delinsAspHisGlnPro	LDLR	5	Delins	Protein altering	Likely Pathogenic	29228028	Exon 13		No
LDLR_2068	c.1886del	p.Phe629Serfs*36	LDLR	3	Deletion	Frameshift	Pathogenic	17765246, 20809525, 28964736	Exon 13		No
LDLR_2067	c.1886T>G	p.Phe629Cys	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 13		Yes
LDLR_2069	c.1887C>T	p.Phe629=	LDLR	1	SNV	Silent	Likely Benign	31153847	Exon 13		Yes
LDLR_2070	c.1892C>A	p.Ala631Asp	LDLR	3	SNV	Missense	Uncertain Significance	16250003, 19446849, 23375686	Exon 13		Yes
LDLR_2071	c.1892_1906del	p.Ala631_Thr635del	LDLR	1	Deletion	Deletion	Uncertain Significance	39535057	Exon 13		No
LDLR_2072	c.1895A>T	p.Asn632Ile	LDLR	4	SNV	Missense	Uncertain Significance	28502510, 30270055, 31102204, Show More >>	Exon 13	Cardiovascular disease, Xanthomas, coronary artery disease, peripheral vascular disease	Yes
LDLR_2073	c.1897C>T	p.Arg633Cys	LDLR	32	SNV	Missense	Likely Pathogenic	11810272, 15241806, 16159606, Show More >>	Exon 13		Yes
LDLR_2076	c.1898G>T	p.Arg633Leu	LDLR	2	SNV	Missense	Likely Pathogenic	16250003, 21382890	Exon 13		Yes
LDLR_2074	c.1898G>A	p.Arg633His	LDLR	10	SNV	Missense	Likely Pathogenic	16250003, 26228681, 27578128, Show More >>	Exon 13	Coronary artery disease	Yes
LDLR_2075	c.1898del	p.Arg633Profs*32	LDLR	1	Deletion	Frameshift	Pathogenic	33418990	Exon 13		No
LDLR_2077	c.1904C>T	p.Thr635Ile	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 13		Yes
LDLR_2078	c.1906G>A	p.Gly636Ser	LDLR	1	SNV	Missense	Uncertain Significance	16542394	Exon 13		Yes
LDLR_2080	c.1907G>A	p.Gly636Asp	LDLR	2	SNV	Missense	Uncertain Significance	14512370, 20809525	Exon 13		Yes
LDLR_2079	c.1907G>T	p.Gly636Val	LDLR	2	SNV	Missense	Uncertain Significance	24671153	Exon 13	Xanthelasmas, xanthomas, coronary artery disease, peripheral vascular disease	Yes
LDLR_2081	c.1910C>G	p.Ser637Cys	LDLR	1	SNV	Missense	Uncertain Significance	31371270	Exon 13		Yes
LDLR_2082	c.1911C>T	p.Ser637=	LDLR	1	SNV	Silent	Uncertain Significance	26020417	Exon 13		Yes
LDLR_2083	c.1911del	p.Asp638Metfs*27	LDLR	1	Deletion	Frameshift	Pathogenic	28964736	Exon 13		No
LDLR_2084	c.1911_1912insAAGA	p.Asp638Lysfs*8	LDLR	1	Insertion	Frameshift	Pathogenic	28964736	Exon 13		No
LDLR_2085	c.1912G>C	p.Asp638His	LDLR	1	SNV	Missense	Likely Pathogenic	34869944	Exon 13		No
LDLR_2087	c.1916T>G	p.Val639Gly	LDLR	8	SNV	Missense	Likely Pathogenic	22311046	Exon 13	Coronary artery disease, cabg	Yes
LDLR_2086	c.1916T>A	p.Val639Asp	LDLR	9	SNV	Missense	Likely Pathogenic	11462246, 16250003, 27784735, Show More >>	Exon 13	Cardiovascular disease, Corneal arcus, xanthomas, cardiovascular disease	Yes
LDLR_2088	c.1920C>T	p.Asn640=	LDLR	1	SNV	Silent	Benign	28169869	Exon 13		Yes
LDLR_2089	c.1925T>C	p.Leu642Ser	LDLR	3	SNV	Missense	Uncertain Significance	34176852, 12417285, 20006333, Show More >>	Exon 13		Yes
LDLR_2090	c.1927G>C	p.Ala643Pro	LDLR	1	SNV	Missense	Uncertain Significance	17539906	Exon 13		Yes
LDLR_2091	c.1927_1941del	p.Ala643_Leu647del	LDLR	1	Deletion	Deletion	Uncertain Significance	31993549	Exon 13		No
LDLR_2092	c.1928C>T	p.Ala643Val	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 13		Yes
LDLR_2093	c.1930G>A	p.Glu644Lys	LDLR	1	SNV	Missense	Uncertain Significance	10200058	Exon 13		No
LDLR_2095	c.1934A>T	p.Asn645Ile	LDLR	1	SNV	Missense	Uncertain Significance	30400955	Exon 13		No
LDLR_2096	c.1934dup	p.Asn645Lysfs*24	LDLR	2	Duplication	Frameshift	Pathogenic	20809525, 28964736	Exon 13		No
LDLR_2094	c.1934del	p.Asn645Thrfs*20	LDLR	2	Deletion	Frameshift	Pathogenic	34176852, 20006333, 21146822, Show More >>	Exon 13		No
LDLR_2098	c.1936del	p.Leu646Tyrfs*19	LDLR	1	Deletion	Frameshift	Pathogenic	20828696	Exon 13		No
LDLR_2097	c.1936C>A	p.Leu646Ile	LDLR	3	SNV	Missense	Uncertain Significance	24373485, 28458923	Exon 13	Myocardial infarction	Yes
LDLR_2099	c.1940dup	p.Ser648Valfs*21	LDLR	1	Duplication	Frameshift	Pathogenic	34297352	Exon 13		No
LDLR_2100	c.1940T>G	p.Leu647Arg	LDLR	1	SNV	Missense	Uncertain Significance	22081141	Exon 13		No
LDLR_2101	c.1941_1942insAAGA	p.Ser648Lysfs*22	LDLR	1	Insertion	Frameshift	Pathogenic	34297352	Exon 13		No
LDLR_2103	c.1942T>G	p.Ser648Ala	LDLR	1	SNV	Missense	Uncertain Significance	32009526	Exon 13		Yes
LDLR_2102	c.1942T>C	p.Ser648Pro	LDLR	1	SNV	Missense	Likely Pathogenic	17765246	Exon 13		Yes
LDLR_2104	c.1943C>A	p.Ser648Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	27932355	Exon 13		No
LDLR_2105	c.1943_1944delinsG	p.Ser648Cysfs*17	LDLR	2	Delins	Frameshift	Pathogenic	28965616, 34297352	Exon 13		No
LDLR_2106	c.1945C>T	p.Pro649Ser	LDLR	3	SNV	Missense	Uncertain Significance	20809525, 33418990	Exon 13		Yes
LDLR_2109	c.1946C>T	p.Pro649Leu	LDLR	2	SNV	Missense	Uncertain Significance	17094996, 9259195	Exon 13		Yes
LDLR_2108	c.1946del	p.Pro649Glnfs*16	LDLR	2	Deletion	Frameshift	Pathogenic	11857755, 9259195	Exon 13		No
LDLR_2107	c.1946dup	p.Glu650Argfs*19	LDLR	2	Duplication	Frameshift	Pathogenic	10208479, 11313767	Exon 13		No
LDLR_2110	c.1948G>A	p.Glu650Lys	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 13		Yes
LDLR_2111	c.1948del	p.Glu650Argfs*15	LDLR	1	Deletion	Frameshift	Pathogenic	32759540	Exon 13		No
LDLR_2112	c.1948_1952dup	p.Asp651Glufs*16	LDLR	3	Duplication	Frameshift	Pathogenic	20809525	Exon 13		No
LDLR_2113	c.1951G>A	p.Asp651Asn	LDLR	5	SNV	Missense	Likely Pathogenic	15241806, 29396260, 30312929	Exon 13	Angina, coronary artery disease, myocardial infarction	Yes
LDLR_2114	c.1951G>T	p.Asp651Tyr	LDLR	4	SNV	Missense	Likely Pathogenic	16389549, 32937241	Exon 13		Yes
LDLR_2115	c.1952A>C	p.Asp651Ala	LDLR	1	SNV	Missense	Likely Pathogenic	28502495	Exon 13		No
LDLR_2116	c.1952del	p.Asp651Valfs*14	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 13		No
LDLR_2117	c.1952A>T	p.Asp651Val	LDLR	1	SNV	Missense	Likely Pathogenic	30312929	Exon 13		Yes
LDLR_2118	c.1953del	p.Asp651Glufs*14	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 13		No
LDLR_2120	c.1954del	p.Met652Trpfs*13	LDLR	1	Deletion	Frameshift	Pathogenic	21376320	Exon 13		No
LDLR_2119	c.1954A>G	p.Met652Val	LDLR	1	SNV	Missense	Uncertain Significance	15199436	Exon 13		Yes
LDLR_2121	c.1954_1955del	p.Met652Glyfs*16	LDLR	44	Deletion	Frameshift	Pathogenic	17087781, 17964958, 20538126, Show More >>	Exon 13	Xanthomas	No
LDLR_2122	c.1955T>C	p.Met652Thr	LDLR	8	SNV	Missense	Likely Pathogenic	20809525, 22883975, 28964736, Show More >>	Exon 13		Yes
LDLR_2123	c.1957G>T	p.Val653Phe	LDLR	5	SNV	Missense	Uncertain Significance	14974088, 35560019	Exon 13		Yes
LDLR_2124	c.1958T>G	p.Val653Gly	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 13		Yes
LDLR_2125	c.1959T>C	p.Val653=	LDLR	1	SNV	Silent	Benign	30270082	Exon 13		Yes
LDLR_2126	c.1960C>T	p.Leu654Phe	LDLR	1	SNV	Missense	Uncertain Significance	26020417	Exon 13		Yes
LDLR_2127	c.1961T>C	p.Leu654Pro	LDLR	2	SNV	Missense	Uncertain Significance	32044282	Exon 13		Yes
LDLR_2128	c.1961_1965dup	p.His656Serfs*11	LDLR	1	Duplication	Frameshift	Pathogenic	20809525	Exon 13		No
LDLR_2129	c.1963T>C	p.Phe655Leu	LDLR	3	SNV	Missense	Likely Pathogenic	18096825, 29353225	Exon 13		Yes
LDLR_2130	c.1964del	p.Phe655Serfs*10	LDLR	4	Deletion	Frameshift	Pathogenic	34327453, 9852677	Exon 13		No
LDLR_2131	c.1965C>G	p.Phe655Leu	LDLR	12	SNV	Missense	Likely Pathogenic	15241806, 20428891, 27784735, Show More >>	Exon 13		Yes
LDLR_2132	c.1966C>A	p.His656Asn	LDLR	1	SNV	Missense	Likely Benign	33955087	Exon 13		Yes
LDLR_2133	c.1968C>G	p.His656Gln	LDLR	3	SNV	Missense	Uncertain Significance	11737238, 12492446	Exon 13		Yes
LDLR_2134	c.1973T>C	p.Leu658Pro	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 13		Yes
LDLR_2135	c.1975A>C	p.Thr659Pro	LDLR	8	SNV	Missense	Uncertain Significance	14512370, 20809525, 21957200, Show More >>	Exon 13		Yes
LDLR_2136	c.1975_1987+16del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	26892515	Exon 13		No
LDLR_2137	c.1976C>A	p.Thr659Asn	LDLR	1	SNV	Missense	Likely Benign	15199436	Exon 13		Yes
LDLR_2138	c.1977C>G	p.Thr659=	LDLR	1	SNV	Silent	Uncertain Significance	26020417	Exon 13		No
LDLR_2139	c.1977C>A	p.Thr659=	LDLR	1	SNV	Silent	Uncertain Significance	26020417	Exon 13		Yes
LDLR_2140	c.1978C>A	p.Gln660Lys	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 13		Yes
LDLR_2141	c.1978C>T	p.Gln660*	LDLR	1	SNV	Nonsense	Pathogenic	37568561	Exon 13		Yes
LDLR_2142	c.1979A>G	p.Gln660Arg	LDLR	10	SNV	Missense	Uncertain Significance	17347910, 24785115, 33955087	Exon 13		Yes
LDLR_2144	c.1981C>A	p.Pro661Thr	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 13		Yes
LDLR_2143	c.1981C>G	p.Pro661Ala	LDLR	1	SNV	Missense	Likely Pathogenic	31689621	Exon 13		Yes
LDLR_2145	c.1982C>T	p.Pro661Leu	LDLR	1	SNV	Missense	Uncertain Significance	31689621	Exon 13		Yes
LDLR_2146	c.1984dup	p.Arg662Lysfs*7	LDLR	1	Duplication	Frameshift	Pathogenic	28235710	Exon 13		No
LDLR_2147	c.1984_1985insTGCT	p.Arg662Metfs*8	LDLR	1	Insertion	Frameshift	Pathogenic	18700895	Exon 13		No
LDLR_2148	c.1986_1987delinsC	p.Arg662Serfs*3	LDLR	1	Delins	Frameshift	Pathogenic	18700895	Exon 13		No
LDLR_2149	c.1987G>A	p.Gly663Arg	LDLR	1	SNV	Missense	Uncertain Significance	19837725	Exon 13		Yes
LDLR_2150	c.1987G>C	p.Gly663Arg	LDLR	1	SNV	Missense	Uncertain Significance	19837725	Exon 13		No
LDLR_2151	c.1987+1del	Intronic	LDLR	2	Deletion	Splice donor	Pathogenic	17094996, 9544745	Intron 13		No
LDLR_2152	c.1987+1G>A	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	36769678	Intron 13		Yes
LDLR_2153	c.1987+2_1987+34del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	27578104	Intron 13		No
LDLR_2154	c.1987+8dup	Intronic	LDLR	1	Duplication	Intronic	Uncertain Significance	12052488	Intron 13		Yes
LDLR_2155	c.1988-42G>A	Intronic	LDLR	2	SNV	Intronic	Uncertain Significance	20145306	Intron 13		Yes
LDLR_2156	c.1988-5C>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	16389549	Intron 13		Yes
LDLR_2158	c.1988-2A>T	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	23375686	Intron 13		Yes
LDLR_2157	c.1988-2A>G	Intronic	LDLR	3	SNV	Splice acceptor	Pathogenic	23375686, 28964736	Intron 13		Yes
LDLR_2159	c.1988-1G>A	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	16792510, 19208450	Intron 13		Yes
LDLR_2160	c.1988-1G>C	Intronic	LDLR	5	SNV	Splice acceptor	Pathogenic	28502495, 33994402	Intron 13		Yes
LDLR_2161	c.1988G>A	p.Gly663Glu	LDLR	7	SNV	Missense	Pathogenic	11237541, 11600564, 11668640, Show More >>	Exon 14		Yes
LDLR_2162	c.1990G>A	p.Val664Met	LDLR	1	SNV	Missense	Uncertain Significance	15199436	Exon 14		Yes
LDLR_2163	c.1996_2012del	p.Trp666Profs*45	LDLR	4	Deletion	Frameshift	Pathogenic	21418584	Exon 14		No
LDLR_2165	c.1997G>A	p.Trp666*	LDLR	3	SNV	Nonsense	Pathogenic	20809525, 25461735, 35194765	Exon 14	Cardiovascular disease, peripheral vascular disease	Yes
LDLR_2164	c.1997G>T	p.Trp666Leu	LDLR	24	SNV	Missense	Uncertain Significance	10657581, 17347910	Exon 14		Yes
LDLR_2167	c.1998del	p.Trp666Cysfs*7	LDLR	1	Deletion	Frameshift	Pathogenic	36980993	Exon 14		No
LDLR_2166	c.1998G>A	p.Trp666*	LDLR	4	SNV	Nonsense	Pathogenic	16389549, 22698793, 32044282, Show More >>	Exon 14		Yes
LDLR_2168	c.1999T>C	p.Cys667Arg	LDLR	34	SNV	Missense	Likely Pathogenic	17765246, 22698793, 23064986, Show More >>	Exon 14	Corneal arcus, xanthomas	Yes
LDLR_2169	c.1999T>A	p.Cys667Ser	LDLR	1	SNV	Missense	Likely Pathogenic	15701167	Exon 14		Yes
LDLR_2172	c.2000G>A	p.Cys667Tyr	LDLR	382	SNV	Missense	Pathogenic	10206683, 10208484, 10208489, Show More >>	Exon 14	Xanthomas	Yes
LDLR_2171	c.2000G>T	p.Cys667Phe	LDLR	1	SNV	Missense	Likely Pathogenic	11313767	Exon 14		Yes
LDLR_2170	c.2000del	p.Cys667Leufs*6	LDLR	5	Deletion	Frameshift	Pathogenic	25846081, 28235710	Exon 14		Yes
LDLR_2173	c.2001T>G	p.Cys667Trp	LDLR	1	SNV	Missense	Likely Pathogenic	9727746	Exon 14		Yes
LDLR_2174	c.2001del	p.Cys667Trpfs*6	LDLR	1	Deletion	Frameshift	Pathogenic	28235710	Exon 14		Yes
LDLR_2175	c.2001T>A	p.Cys667*	LDLR	3	SNV	Nonsense	Pathogenic	27784735, 30293936, 7635461	Exon 14		Yes
LDLR_2177	c.2001_2002delinsGT	p.Cys667_Glu668delinsTrp*	LDLR	2	Delins	Nonsense	Uncertain Significance	29213121	Exon 14	Xanthomas	No
LDLR_2176	c.2001_2002del	p.Cys667*	LDLR	2	Deletion	Nonsense	Pathogenic	33418990, 34074024	Exon 14		No
LDLR_2178	c.2011del	p.Thr671Profs*2	LDLR	1	Deletion	Frameshift	Pathogenic	28475941	Exon 14		Yes
LDLR_2179	c.2011_2014del	p.Thr671*	LDLR	1	Deletion	Nonsense	Pathogenic	30293936	Exon 14		No
LDLR_2180	c.2013_2014del	p.Leu672Glufs*44	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 14		No
LDLR_2181	c.2015del	p.Leu672Argfs*37	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 14		Yes
LDLR_2182	c.2017A>C	p.Ser673Arg	LDLR	1	SNV	Missense	Uncertain Significance	11933210	Exon 14		Yes
LDLR_2183	c.2022dup	p.Gly675Trpfs*42	LDLR	2	Duplication	Frameshift	Pathogenic	27824480	Exon 14		Yes
LDLR_2184	c.2023G>A	p.Gly675Ser	LDLR	5	SNV	Missense	Uncertain Significance	11524740, 22698793, 27824480	Exon 14		Yes
LDLR_2185	c.2024del	p.Gly675Alafs*34	LDLR	1	Deletion	Frameshift	Pathogenic	20091938	Exon 14		No
LDLR_2186	c.2025C>T	p.Gly675=	LDLR	1	SNV	Silent	Uncertain Significance	26892515	Exon 14		Yes
LDLR_2188	c.2026G>A	p.Gly676Ser	LDLR	6	SNV	Missense	Uncertain Significance	34176852, 12417285, 20006333, Show More >>	Exon 14		Yes
LDLR_2187	c.2026G>C	p.Gly676Arg	LDLR	2	SNV	Missense	Uncertain Significance	26892515, 27932355	Exon 14		Yes
LDLR_2189	c.2026G>T	p.Gly676Cys	LDLR	1	SNV	Missense	Uncertain Significance	16792510	Exon 14		Yes
LDLR_2190	c.2027G>C	p.Gly676Ala	LDLR	1	SNV	Missense	Uncertain Significance	34249980	Exon 14		No
LDLR_2191	c.2027del	p.Gly676Alafs*33	LDLR	57	Deletion	Frameshift	Pathogenic	25839937, 26688439, 27365335, Show More >>	Exon 14	Corneal arcus, xanthelasmas, xanthomas, angina, peripheral vascular disease, Corneal arcus, xanthomas, Myocardial infarction	No
LDLR_2192	c.2028dup	p.Cys677Leufs*40	LDLR	1	Duplication	Frameshift	Pathogenic	20809525	Exon 14		No
LDLR_2193	c.2029T>C	p.Cys677Arg	LDLR	21	SNV	Missense	Pathogenic	10208479, 10559517, 11313767, Show More >>	Exon 14		Yes
LDLR_2194	c.2030G>T	p.Cys677Phe	LDLR	2	SNV	Missense	Likely Pathogenic	22883975, 9763532	Exon 14		Yes
LDLR_2195	c.2030G>A	p.Cys677Tyr	LDLR	3	SNV	Missense	Likely Pathogenic	25846081, 28235710	Exon 14	Xanthomas	Yes
LDLR_2196	c.2030_2042del	p.Cys677Serfs*28	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 14		Yes
LDLR_2197	c.2032C>T	p.Gln678*	LDLR	3	SNV	Nonsense	Pathogenic	1301956, 26892515	Exon 14		Yes
LDLR_2198	c.2033_2044del	p.Gln678_Cys681del	LDLR	5	Deletion	Deletion	Likely Pathogenic	10735632, 11810272, 16466730	Exon 14		No
LDLR_2199	c.2035dup	p.Tyr679Leufs*38	LDLR	1	Duplication	Frameshift	Pathogenic	12124988	Exon 14		Yes
LDLR_2200	c.2036dup	p.Tyr679*	LDLR	1	Duplication	Nonsense	Pathogenic	16389549	Exon 14		Yes
LDLR_2201	c.2037T>A	p.Tyr679*	LDLR	1	SNV	Nonsense	Pathogenic	17539906	Exon 14		Yes
LDLR_2202	c.2038C>G	p.Leu680Val	LDLR	1	SNV	Missense	Uncertain Significance	29399563	Exon 14		No
LDLR_2203	c.2039T>C	p.Leu680Pro	LDLR	2	SNV	Missense	Uncertain Significance	27824480	Exon 14		Yes
LDLR_2205	c.2041T>A	p.Cys681Ser	LDLR	2	SNV	Missense	Uncertain Significance	11313767	Exon 14		Yes
LDLR_2204	c.2041T>G	p.Cys681Gly	LDLR	1	SNV	Missense	Uncertain Significance	28964736	Exon 14		Yes
LDLR_2206	c.2041_2042del	p.Cys681Profs*35	LDLR	1	Deletion	Frameshift	Likely Pathogenic	19118540	Exon 14		No
LDLR_2208	c.2042G>C	p.Cys681Ser	LDLR	4	SNV	Missense	Uncertain Significance	16389549, 18718593, 32331935, Show More >>	Exon 14		Yes
LDLR_2207	c.2042G>A	p.Cys681Tyr	LDLR	3	SNV	Missense	Uncertain Significance	17094996, 7489239	Exon 14		Yes
LDLR_2210	c.2043C>A	p.Cys681*	LDLR	364	SNV	Nonsense	Pathogenic	10412552, 11668627, 11845603, Show More >>	Exon 14	Angina, coronary artery disease, Cardiovascular disease, Corneal arcus, Corneal Show More >>	Yes
LDLR_2209	c.2043C>G	p.Cys681Trp	LDLR	6	SNV	Missense	Uncertain Significance	16092059	Exon 14		Yes
LDLR_2211	c.2044C>T	p.Leu682Phe	LDLR	1	SNV	Missense	Likely Pathogenic	34456200	Exon 14		Yes
LDLR_2212	c.2045T>C	p.Leu682Pro	LDLR	1	SNV	Missense	Likely Pathogenic	1301956	Exon 14		Yes
LDLR_2213	c.2046_2049del	p.Ala684Argfs*24	LDLR	1	Deletion	Frameshift	Pathogenic	9654205	Exon 14		No
LDLR_2214	c.2048C>T	p.Pro683Leu	LDLR	1	SNV	Missense	Uncertain Significance	34869944	Exon 14		Yes
LDLR_2216	c.2050G>A	p.Ala684Thr	LDLR	1	SNV	Missense	Uncertain Significance	11005141	Exon 14		Yes
LDLR_2215	c.2050del	p.Ala684Profs*25	LDLR	1	Deletion	Frameshift	Pathogenic	12124988	Exon 14		Yes
LDLR_2217	c.2050_2063delinsC	p.Ala684Profs*21	LDLR	1	Delins	Frameshift	Pathogenic	28964736	Exon 14		No
LDLR_2218	c.2050_2063del	p.Ala684Profs*28	LDLR	2	Deletion	Frameshift	Pathogenic	11810272, 23369702	Exon 14		Yes
LDLR_2219	c.2051C>A	p.Ala684Asp	LDLR	2	SNV	Missense	Uncertain Significance	30312929	Exon 14		No
LDLR_2221	c.2053C>A	p.Pro685Thr	LDLR	2	SNV	Missense	Likely Pathogenic	11810272, 21382890	Exon 14		Yes
LDLR_2220	c.2053C>T	p.Pro685Ser	LDLR	1	SNV	Missense	Likely Pathogenic	17765246	Exon 14		Yes
LDLR_2223	c.2054C>A	p.Pro685Gln	LDLR	1	SNV	Missense	Likely Pathogenic	28475941	Exon 14		Yes
LDLR_2224	c.2054dup	p.Gln686Alafs*31	LDLR	1	Duplication	Frameshift	Pathogenic	33890476	Exon 14		No
LDLR_2225	c.2054C>T	p.Pro685Leu	LDLR	960	SNV	Missense	Pathogenic	34176852, 10208479, 10422804, Show More >>	Exon 14	Cardiovascular disease, coronary artery disease, Corneal arcus, Corneal arcus, p Show More >>	Yes
LDLR_2222	c.2054del	p.Pro685Argfs*24	LDLR	9	Deletion	Frameshift	Pathogenic	16465405, 23375686, 27784735	Exon 14	Corneal arcus, xanthomas, angina, coronary artery disease, peripheral vascular disease, Xanthomas, coronary artery disease	No
LDLR_2226	c.2055del	p.Gln686Argfs*23	LDLR	1	Deletion	Frameshift	Pathogenic	34176852, 12417285, 20006333, Show More >>	Exon 14		Yes
LDLR_2227	c.2055G>A	p.Pro685=	LDLR	1	SNV	Silent	Uncertain Significance	22923420	Exon 14		Yes
LDLR_2228	c.2055_2068del	p.Gln686Leufs*26	LDLR	8	Deletion	Frameshift	Pathogenic	11472754, 11737238, 12492446	Exon 14		No
LDLR_2229	c.2056C>T	p.Gln686*	LDLR	5	SNV	Nonsense	Pathogenic	17765246, 20145306, 9500809, Show More >>	Exon 14		Yes
LDLR_2230	c.2056del	p.Gln686Argfs*23	LDLR	1	Deletion	Frameshift	Pathogenic	15256764	Exon 14		No
LDLR_2231	c.2056_2068del	p.Gln686Thrfs*19	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 14		Yes
LDLR_2232	c.2057del	p.Gln686Argfs*23	LDLR	1	Deletion	Frameshift	Pathogenic	15256764	Exon 14		No
LDLR_2233	c.2059A>T	p.Ile687Phe	LDLR	1	SNV	Missense	Uncertain Significance	28964736	Exon 14		Yes
LDLR_2234	c.2060del	p.Ile687Thrfs*22	LDLR	1	Deletion	Frameshift	Pathogenic	9544745	Exon 14		Yes
LDLR_2235	c.2061dup	p.Asn688Glnfs*29	LDLR	6	Duplication	Frameshift	Pathogenic	16159606, 16389549, 17094996, Show More >>	Exon 14		Yes
LDLR_2236	c.2062_2063insC	p.Asn688Thrfs*29	LDLR	1	Insertion	Frameshift	Pathogenic	17539906	Exon 14		Yes
LDLR_2237	c.2068C>G	p.His690Asp	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 14		Yes
LDLR_2238	c.2068del	p.His690Thrfs*19	LDLR	14	Deletion	Frameshift	Pathogenic	11524740, 22698793, 33640001	Exon 14		No
LDLR_2240	c.2072C>A	p.Ser691*	LDLR	5	SNV	Nonsense	Pathogenic	23375686, 28379029, 32044282, Show More >>	Exon 14		Yes
LDLR_2239	c.2072C>T	p.Ser691Leu	LDLR	2	SNV	Missense	Uncertain Significance	28379029, 28965616	Exon 14		Yes
LDLR_2241	c.2077_2078del	p.Lys693Valfs*23	LDLR	2	Deletion	Frameshift	Pathogenic	16250003, 17765246	Exon 14		Yes
LDLR_2242	c.2078del	p.Lys693Serfs*16	LDLR	1	Deletion	Frameshift	Pathogenic	17765246	Exon 14		No
LDLR_2243	c.2080T>G	p.Phe694Val	LDLR	1	SNV	Missense	Uncertain Significance	19837725	Exon 14		Yes
LDLR_2244	c.2085_2103del	p.Ala697Cysfs*6	LDLR	13	Deletion	Frameshift	Pathogenic	10206683, 10208484, 10790219, Show More >>	Exon 14		No
LDLR_2245	c.2086T>C	p.Cys696Arg	LDLR	2	SNV	Missense	Uncertain Significance	27784735, 31491741	Exon 14		Yes
LDLR_2246	c.2086T>G	p.Cys696Gly	LDLR	2	SNV	Missense	Uncertain Significance	35560019	Exon 14		Yes
LDLR_2249	c.2087G>T	p.Cys696Phe	LDLR	1	SNV	Missense	Uncertain Significance	18718593	Exon 14		Yes
LDLR_2247	c.2087G>A	p.Cys696Tyr	LDLR	1	SNV	Missense	Uncertain Significance	11005141	Exon 14		Yes
LDLR_2248	c.2087G>C	p.Cys696Ser	LDLR	1	SNV	Missense	Uncertain Significance	29572815	Exon 14		No
LDLR_2251	c.2088C>G	p.Cys696Trp	LDLR	3	SNV	Missense	Uncertain Significance	11933210, 23375686	Exon 14		Yes
LDLR_2250	c.2088C>A	p.Cys696*	LDLR	9	SNV	Nonsense	Pathogenic	15359125, 16542394, 26510755, Show More >>	Exon 14	Xanthomas	Yes
LDLR_2253	c.2089G>A	p.Ala697Thr	LDLR	1	SNV	Missense	Uncertain Significance	35727495	Exon 14		Yes
LDLR_2252	c.2089G>C	p.Ala697Pro	LDLR	4	SNV	Missense	Uncertain Significance	17094996, 33418990	Exon 14		Yes
LDLR_2255	c.2092del	p.Cys698Alafs*11	LDLR	2	Deletion	Frameshift	Pathogenic	11845603, 9664576	Exon 14		Yes
LDLR_2254	c.2092T>C	p.Cys698Arg	LDLR	1	SNV	Missense	Likely Pathogenic	23130880	Exon 14		Yes
LDLR_2256	c.2093G>T	p.Cys698Phe	LDLR	4	SNV	Missense	Likely Pathogenic	16389549, 22698793, 31491741	Exon 14		Yes
LDLR_2257	c.2093G>A	p.Cys698Tyr	LDLR	6	SNV	Missense	Likely Pathogenic	11933210, 15241806, 27784735, Show More >>	Exon 14		Yes
LDLR_2258	c.2093_2094dup	p.Pro699Alafs*11	LDLR	6	Duplication	Frameshift	Pathogenic	30319009	Exon 14		No
LDLR_2259	c.2094C>G	p.Cys698Trp	LDLR	5	SNV	Missense	Likely Pathogenic	20809525, 23375686, 28964736, Show More >>	Exon 14	Coronary artery disease, Xanthomas, coronary artery disease	Yes
LDLR_2261	c.2096C>T	p.Pro699Leu	LDLR	42	SNV	Missense	Uncertain Significance	10882754, 11810272, 11845603, Show More >>	Exon 14		Yes
LDLR_2260	c.2096del	p.Pro699Argfs*10	LDLR	1	Deletion	Frameshift	Pathogenic	26892515	Exon 14		No
LDLR_2262	c.2098G>A	p.Asp700Asn	LDLR	2	SNV	Missense	Likely Pathogenic	23669246, 28964736	Exon 14		Yes
LDLR_2263	c.2099A>G	p.Asp700Gly	LDLR	11	SNV	Missense	Likely Pathogenic	11668640, 16627557, 22353362, Show More >>	Exon 14	Xanthomas	Yes
LDLR_2264	c.2100C>G	p.Asp700Glu	LDLR	10	SNV	Missense	Likely Pathogenic	10206683, 15241806, 16083882, Show More >>	Exon 14		Yes
LDLR_2265	c.2101G>A	p.Gly701Ser	LDLR	2	SNV	Missense	Uncertain Significance	16250003, 22698793	Exon 14		Yes
LDLR_2266	c.2102del	p.Gly701Alafs*8	LDLR	6	Deletion	Frameshift	Pathogenic	18718593, 31491741, 32331935, Show More >>	Exon 14		No
LDLR_2267	c.2106G>A	p.Met702Ile	LDLR	1	SNV	Missense	Uncertain Significance	26802169	Exon 14		Yes
LDLR_2268	c.2108_2111dup	p.Arg706Glyfs*12	LDLR	1	Duplication	Frameshift	Pathogenic	16389549	Exon 14		Yes
LDLR_2269	c.2108_2114dup	p.Arg706Alafs*13	LDLR	6	Duplication	Frameshift	Pathogenic	29353225, 35560019	Exon 14		No
LDLR_2271	c.2113G>T	p.Ala705Ser	LDLR	1	SNV	Missense	Uncertain Significance	18325082	Exon 14		Yes
LDLR_2270	c.2113G>C	p.Ala705Pro	LDLR	19	SNV	Missense	Likely Pathogenic	11810272, 21382890, 21642693, Show More >>	Exon 14		Yes
LDLR_2272	c.2114C>G	p.Ala705Gly	LDLR	1	SNV	Missense	Uncertain Significance	31689621	Exon 14		No
LDLR_2273	c.2116A>G	p.Arg706Gly	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 14		Yes
LDLR_2274	c.2119G>T	p.Asp707Tyr	LDLR	1	SNV	Missense	Likely Pathogenic	33173538	Exon 14		Yes
LDLR_2275	c.2120A>T	p.Asp707Val	LDLR	8	SNV	Missense	Likely Pathogenic	20809525, 27765764, 32706999, Show More >>	Exon 14		Yes
LDLR_2276	c.2120A>C	p.Asp707Ala	LDLR	3	SNV	Missense	Likely Pathogenic	28958694, 28965616, 33890476	Exon 14		No
LDLR_2277	c.2126G>A	p.Arg709Lys	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 14		Yes
LDLR_2278	c.2131T>A	p.Cys711Ser	LDLR	2	SNV	Missense	Likely Pathogenic	14974088, 21382890	Exon 14		Yes
LDLR_2280	c.2132G>C	p.Cys711Ser	LDLR	2	SNV	Missense	Likely Pathogenic	20809525	Exon 14		Yes
LDLR_2281	c.2132G>A	p.Cys711Tyr	LDLR	16	SNV	Missense	Likely Pathogenic	19446849, 22544571, 23375686, Show More >>	Exon 14	Corneal arcus, cardiovascular disease, Corneal arcus, xanthomas, peripheral vascular disease, Xanthomas	Yes
LDLR_2279	c.2132G>T	p.Cys711Phe	LDLR	1	SNV	Missense	Likely Pathogenic	16250003	Exon 14		Yes
LDLR_2282	c.2133C>A	p.Cys711*	LDLR	2	SNV	Nonsense	Pathogenic	23375686	Exon 14		Yes
LDLR_2283	c.2137del	p.Thr713Glnfs*17	LDLR	1	Deletion	Frameshift	Pathogenic	31106925	Exon 14		No
LDLR_2284	c.2138del	p.Thr713Lysfs*17	LDLR	1	Deletion	Frameshift	Pathogenic	31106925	Exon 14		Yes
LDLR_2285	c.2138_2139del	p.Thr713Argfs*3	LDLR	1	Deletion	Frameshift	Pathogenic	31106925	Exon 14		No
LDLR_2287	c.2139A>T	p.Thr713=	LDLR	1	SNV	Silent	Likely Pathogenic	39535057	Exon 14		No
LDLR_2286	c.2139A>G	p.Thr713=	LDLR	7	SNV	Silent	Likely Pathogenic	33794673	Exon 14		Yes
LDLR_2290	c.2140G>C	p.Glu714Gln	LDLR	1	SNV	Missense	Uncertain Significance	20809525	Exon 14		Yes
LDLR_2289	c.2140G>A	p.Glu714Lys	LDLR	1	SNV	Missense	Uncertain Significance	10447263	Exon 14		Yes
LDLR_2288	c.2140G>T	p.Glu714*	LDLR	2	SNV	Nonsense	Pathogenic	12436241, 33994402	Exon 14		Yes
LDLR_2291	c.2140+1G>T	Intronic	LDLR	9	SNV	Splice donor	Pathogenic	34176852, 10441197, 11851376, Show More >>	Intron 14	Xanthomas, coronary artery disease	Yes
LDLR_2293	c.2140+1G>A	Intronic	LDLR	114	SNV	Splice donor	Pathogenic	12522687, 15241806, 20828696, Show More >>	Intron 14		Yes
LDLR_2292	c.2140+1G>C	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	11313767, 12052488	Intron 14		Yes
LDLR_2295	c.2140+2T>C	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	34456200	Intron 14		Yes
LDLR_2294	c.2140+2T>A	Intronic	LDLR	2	SNV	Splice donor	Pathogenic	8882879	Intron 14		Yes
LDLR_2296	c.2140+5G>A	Intronic	LDLR	1	SNV	Splice region	Benign	18096825	Intron 14		Yes
LDLR_2297	c.2140+9C>T	Intronic	LDLR	6	SNV	Intronic	Uncertain Significance	15200491	Intron 14	Xanthomas	Yes
LDLR_2298	c.2140+86C>G	Intronic	LDLR	20	SNV	Intronic	Likely Pathogenic	20703241	Intron 14		Yes
LDLR_2299	c.2140+103G>T	Intronic	LDLR	19	SNV	Intronic	Pathogenic	30562117, 33601267	Intron 14		No
LDLR_2300	c.2141-218G>A	Intronic	LDLR	3	SNV	Intronic	Uncertain Significance	33601267	Intron 14		Yes
LDLR_2301	c.2141-9T>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	26415676	Intron 14		No
LDLR_2302	c.2141-2del	Intronic	LDLR	3	Deletion	Splice acceptor	Pathogenic	31491741, 32331935, 33533259	Intron 14		No
LDLR_2303	c.2141-2A>C	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	33111339	Intron 14		No
LDLR_2304	c.2146G>A	p.Glu716Lys	LDLR	2	SNV	Missense	Uncertain Significance	20828696	Exon 15		Yes
LDLR_2305	c.2150C>G	p.Ala717Gly	LDLR	1	SNV	Missense	Uncertain Significance	12837857	Exon 15		Yes
LDLR_2306	c.2160del	p.Thr721Profs*9	LDLR	1	Deletion	Frameshift	Pathogenic	37340302	Exon 15		No
LDLR_2307	c.2164C>T	p.Gln722*	LDLR	3	SNV	Nonsense	Pathogenic	16250003, 35343078	Exon 15	Coronary artery disease	Yes
LDLR_2308	c.2165A>G	p.Gln722Arg	LDLR	1	SNV	Missense	Uncertain Significance	22923420	Exon 15		Yes
LDLR_2310	c.2167del	p.Glu723Argfs*7	LDLR	2	Deletion	Frameshift	Pathogenic	11139254, 35052492	Exon 15		No
LDLR_2309	c.2167G>T	p.Glu723*	LDLR	6	SNV	Nonsense	Pathogenic	10428988, 11398137, 26802169, Show More >>	Exon 15	Corneal arcus, xanthomas, coronary artery disease, cabg, peripheral vascular disease	Yes
LDLR_2311	c.2171C>T	p.Thr724Ile	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 15		Yes
LDLR_2312	c.2175del	p.Thr726Profs*4	LDLR	2	Deletion	Frameshift	Pathogenic	20145306	Exon 15		No
LDLR_2313	c.2177C>T	p.Thr726Ile	LDLR	1	SNV	Missense	Benign	11317362	Exon 15		Yes
LDLR_2314	c.2178del	p.Val727Serfs*3	LDLR	1	Deletion	Frameshift	Pathogenic	16250003	Exon 15		No
LDLR_2315	c.2180_2184dup	p.Leu729Serfs*3	LDLR	1	Duplication	Frameshift	Pathogenic	28379029	Exon 15		No
LDLR_2316	c.2184del	p.Arg728Serfs*2	LDLR	6	Deletion	Frameshift	Pathogenic	15241806, 18096825	Exon 15		No
LDLR_2317	c.2186dup	p.Val731Glyfs*51	LDLR	1	Duplication	Frameshift	Pathogenic	16250003	Exon 15		Yes
LDLR_2318	c.2186del	p.Leu729Glnfs*8	LDLR	1	Deletion	Frameshift	Pathogenic	28379029	Exon 15		No
LDLR_2319	c.2187_2197del	p.Lys730Hisfs*48	LDLR	3	Deletion	Frameshift	Pathogenic	20809525, 23669246, 23680767	Exon 15		No
LDLR_2321	c.2189A>C	p.Lys730Thr	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 15		No
LDLR_2320	c.2189A>G	p.Lys730Arg	LDLR	1	SNV	Missense	Uncertain Significance	22764087	Exon 15		No
LDLR_2322	c.2191del	p.Val731Serfs*6	LDLR	3	Deletion	Frameshift	Pathogenic	24373485, 28458923	Exon 15		No
LDLR_2323	c.2191_2203dup	p.Ala735Glyfs*51	LDLR	3	Duplication	Frameshift	Pathogenic	16250003, 21382890, 30795984	Exon 15	Xanthelasmas, xanthomas	No
LDLR_2324	c.2192_2204dup	p.Val736Glnfs*50	LDLR	1	Duplication	Frameshift	Pathogenic	30270083	Exon 15		No
LDLR_2325	c.2193dup	p.Ser732Glnfs*50	LDLR	3	Duplication	Frameshift	Pathogenic	30555131	Exon 15	Xanthomas	Yes
LDLR_2326	c.2199del	p.Thr734Glnfs*3	LDLR	1	Deletion	Frameshift	Pathogenic	28932795	Exon 15		No
LDLR_2328	c.2201C>T	p.Thr734Ile	LDLR	1	SNV	Missense	Uncertain Significance	29974534	Exon 15		No
LDLR_2327	c.2201del	p.Thr734Lysfs*3	LDLR	1	Deletion	Frameshift	Pathogenic	28932795	Exon 15		No
LDLR_2329	c.2201_2202del	p.Thr734Serfs*47	LDLR	8	Deletion	Frameshift	Pathogenic	20006333, 21146822, 25014035, Show More >>	Exon 15	Xanthomas	No
LDLR_2330	c.2205_2206insTT	p.Val736Leufs*2	LDLR	1	Insertion	Frameshift	Pathogenic	30270083	Exon 15		No
LDLR_2331	c.2206G>A	p.Val736Ile	LDLR	1	SNV	Missense	Uncertain Significance	27497240	Exon 15		Yes
LDLR_2332	c.2207dup	p.Arg737Lysfs*45	LDLR	2	Duplication	Frameshift	Pathogenic	10790219, 18096825	Exon 15		Yes
LDLR_2333	c.2209A>G	p.Arg737Gly	LDLR	1	SNV	Missense	Likely Pathogenic	17694954	Exon 15		Yes
LDLR_2334	c.2210_2211insC	p.Arg737Serfs*45	LDLR	1	Insertion	Frameshift	Pathogenic	18096825	Exon 15		No
LDLR_2335	c.2211G>T	p.Arg737Ser	LDLR	2	SNV	Missense	Likely Pathogenic	26802169	Exon 15		No
LDLR_2336	c.2214del	p.Gln739Serfs*26	LDLR	1	Deletion	Frameshift	Pathogenic	31893465	Exon 15		No
LDLR_2337	c.2215C>T	p.Gln739*	LDLR	23	SNV	Nonsense	Pathogenic	34176852, 12417285, 16314194, Show More >>	Exon 15	Corneal arcus, xanthomas, coronary artery disease, Coronary artery disease, cabg	Yes
LDLR_2338	c.2224_2227dup	p.Thr743Asnfs*40	LDLR	1	Duplication	Frameshift	Pathogenic	34456200	Exon 15		No
LDLR_2339	c.2225C>T	p.Thr742Ile	LDLR	1	SNV	Missense	Uncertain Significance	11462246	Exon 15		Yes
LDLR_2340	c.2226del	p.Thr743Profs*22	LDLR	1	Deletion	Frameshift	Pathogenic	23375686	Exon 15		No
LDLR_2341	c.2229_2234dup	p.Arg744_Pro745dup	LDLR	2	Duplication	In-frame duplication	Likely Pathogenic	26802169	Exon 15		No
LDLR_2343	c.2230del	p.Arg744Aspfs*21	LDLR	2	Deletion	Frameshift	Pathogenic	20809525	Exon 15		No
LDLR_2342	c.2230C>T	p.Arg744*	LDLR	5	SNV	Nonsense	Pathogenic	29353225, 31993549, 33269076, Show More >>	Exon 15		Yes
LDLR_2344	c.2231G>A	p.Arg744Gln	LDLR	10	SNV	Missense	Uncertain Significance	12436241, 14974088, 15556094, Show More >>	Exon 15		Yes
LDLR_2345	c.2232A>G	p.Arg744=	LDLR	1	SNV	Silent	Benign	24284361	Exon 15		Yes
LDLR_2346	c.2238del	p.Asp748Thrfs*17	LDLR	1	Deletion	Frameshift	Pathogenic	30270083	Exon 15		No
LDLR_2347	c.2242G>A	p.Asp748Asn	LDLR	1	SNV	Missense	Uncertain Significance	27765764	Exon 15		Yes
LDLR_2348	c.2244_2245insG	p.Thr749Aspfs*33	LDLR	1	Insertion	Frameshift	Pathogenic	33418990	Exon 15		No
LDLR_2350	c.2251del	p.Arg751Glyfs*14	LDLR	1	Deletion	Frameshift	Pathogenic	36261084	Exon 15		No
LDLR_2349	c.2251C>T	p.Arg751Trp	LDLR	1	SNV	Missense	Benign	25414273	Exon 15		Yes
LDLR_2351	c.2252G>A	p.Arg751Gln	LDLR	3	SNV	Missense	Likely Pathogenic	16159606, 16250003, 33955087	Exon 15		Yes
LDLR_2352	c.2257C>G	p.Pro753Ala	LDLR	1	SNV	Missense	Uncertain Significance	28965616	Exon 15		No
LDLR_2353	c.2257C>T	p.Pro753Ser	LDLR	2	SNV	Missense	Likely Pathogenic	25014035, 32331935	Exon 15		No
LDLR_2354	c.2258C>T	p.Pro753Leu	LDLR	1	SNV	Missense	Uncertain Significance	17964958	Exon 15		No
LDLR_2355	c.2264_2273del	p.Ala755Glyfs*7	LDLR	8	Deletion	Frameshift	Pathogenic	21722902, 29576406	Exon 15	Corneal arcus, xanthelasmas, xanthomas	No
LDLR_2356	c.2270del	p.Pro757Leufs*8	LDLR	1	Deletion	Frameshift	Pathogenic	28475941	Exon 15		No
LDLR_2357	c.2270C>T	p.Pro757Leu	LDLR	1	SNV	Missense	Likely Pathogenic	30827231	Exon 15		No
LDLR_2358	c.2271del	p.Leu759Serfs*6	LDLR	19	Deletion	Frameshift	Pathogenic	16314194, 21722902, 29576406	Exon 15	Corneal arcus, xanthomas, cardiovascular disease, valvular heart disease, Myocar Show More >>	Yes
LDLR_2359	c.2274del	p.Leu759Serfs*6	LDLR	1	Deletion	Frameshift	Pathogenic	16314194	Exon 15		No
LDLR_2360	c.2282C>T	p.Thr761Met	LDLR	5	SNV	Missense	Likely Pathogenic	16250003, 16542394, 16792510, Show More >>	Exon 15		Yes
LDLR_2361	c.2287del	p.Glu763Argfs*2	LDLR	3	Deletion	Frameshift	Pathogenic	27816806, 32044282	Exon 15	Corneal arcus, xanthomas	No
LDLR_2362	c.2289G>T	p.Glu763Asp	LDLR	3	SNV	Missense	Uncertain Significance	25057385, 25682442, 29720182	Exon 15	Xanthelasmas, coronary artery disease	Yes
LDLR_2363	c.2291T>C	p.Ile764Thr	LDLR	1	SNV	Missense	Likely Benign	29353225	Exon 15		Yes
LDLR_2364	c.2292del	p.Ile764Metfs*2	LDLR	15	Deletion	Frameshift	Pathogenic	10559517, 1352322, 16159606, Show More >>	Exon 15	Xanthomas	Yes
LDLR_2365	c.2294T>G	p.Val765Gly	LDLR	1	SNV	Missense	Uncertain Significance	24956927	Exon 15		Yes
LDLR_2366	c.2295_2302del	p.Thr766Serfs*13	LDLR	1	Deletion	Frameshift	Pathogenic	26802169	Exon 15		No
LDLR_2367	c.2296del	p.Thr766Glnfs*22	LDLR	2	Deletion	Frameshift	Pathogenic	29870584	Exon 15		No
LDLR_2368	c.2296A>G	p.Thr766Ala	LDLR	1	SNV	Missense	Likely Pathogenic	23375686	Exon 15		Yes
LDLR_2369	c.2297C>T	p.Thr766Ile	LDLR	1	SNV	Missense	Likely Pathogenic	16250003	Exon 15		Yes
LDLR_2370	c.2297_2298del	p.Thr766Asnfs*15	LDLR	1	Deletion	Frameshift	Pathogenic	20145306	Exon 15		No
LDLR_2371	c.2299del	p.Met767Cysfs*21	LDLR	6	Deletion	Frameshift	Pathogenic	22417841	Exon 15		No
LDLR_2372	c.2299A>G	p.Met767Val	LDLR	1	SNV	Missense	Uncertain Significance	28965616	Exon 15		Yes
LDLR_2373	c.2308C>T	p.Gln770*	LDLR	10	SNV	Nonsense	Pathogenic	10978268, 23375686	Exon 15		Yes
LDLR_2374	c.2309A>G	p.Gln770Arg	LDLR	2	SNV	Missense	Uncertain Significance	28964736, 29396260	Exon 15	Angina, coronary artery disease, cabg, myocardial infarction, cardiac rhythm disorder	No
LDLR_2375	c.2311G>A	p.Ala771Thr	LDLR	1	SNV	Missense	Pathogenic	26802169	Exon 15		Yes
LDLR_2376	c.2311_2311+15del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	28965616	Exon 15		No
LDLR_2379	c.2311+1G>T	Intronic	LDLR	6	SNV	Splice donor	Pathogenic	20809525, 27678436	Intron 15		Yes
LDLR_2378	c.2311+1G>A	Intronic	LDLR	20	SNV	Splice donor	Pathogenic	10978268, 16343504, 23375686, Show More >>	Intron 15	Coronary artery disease, Xanthelasmas, xanthomas, peripheral vascular disease, Xanthomas	Yes
LDLR_2377	c.2311+1del	Intronic	LDLR	1	Deletion	Splice donor	Pathogenic	33418990	Intron 15		No
LDLR_2380	c.2311+1G>C	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	16389549	Intron 15		Yes
LDLR_2381	c.2311+2T>G	Intronic	LDLR	3	SNV	Splice donor	Pathogenic	12436241, 18096825	Intron 15		Yes
LDLR_2382	c.2311+9T>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	24284361	Intron 15		Yes
LDLR_2383	c.2311+56G>C	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	39337102	Intron 15		No
LDLR_2384	c.2311+96G>A	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 15		No
LDLR_2385	c.2312-136A>G	Intronic	LDLR	1	SNV	Intronic	Benign	15823276	Intron 15		Yes
LDLR_2387	c.2312-47G>A	Intronic	LDLR	1	SNV	Intronic	Benign	15556093	Intron 15		Yes
LDLR_2386	c.2312-47G>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	12436241	Intron 15		No
LDLR_2388	c.2312-33G>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	12436241	Intron 15		No
LDLR_2390	c.2312-3C>T	Intronic	LDLR	1	SNV	Splice region	Uncertain Significance	11600564, 11668640, 14508510	Intron 15		Yes
LDLR_2389	c.2312-3C>A	Intronic	LDLR	336	SNV	Splice region	Pathogenic	34176852, 11317362, 11668640, Show More >>	Intron 15	Xanthomas	Yes
LDLR_2391	c.2312-2A>C	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	23130880	Intron 15		Yes
LDLR_2392	c.2312C>T	p.Ala771Val	LDLR	1	SNV	Missense	Uncertain Significance	35137788	Exon 16		Yes
LDLR_2393	c.2317_2318insTA	p.Gly773Valfs*16	LDLR	1	Insertion	Frameshift	Pathogenic	16250003	Exon 16		Yes
LDLR_2394	c.2318del	p.Gly773Alafs*15	LDLR	1	Deletion	Frameshift	Pathogenic	20809525	Exon 16		No
LDLR_2395	c.2320G>A	p.Asp774Asn	LDLR	1	SNV	Missense	Uncertain Significance	30971288	Exon 16		Yes
LDLR_2396	c.2323G>A	p.Val775Ile	LDLR	1	SNV	Missense	Uncertain Significance	29192238	Exon 16		No
LDLR_2397	c.2324T>C	p.Val775Ala	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 16		Yes
LDLR_2398	c.2327C>T	p.Ala776Val	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 16		No
LDLR_2399	c.2332dup	p.Arg778Lysfs*4	LDLR	1	Duplication	Frameshift	Pathogenic	11933210	Exon 16		No
LDLR_2400	c.2333_2334insC	p.Arg778Serfs*4	LDLR	1	Insertion	Frameshift	Pathogenic	11933210	Exon 16		Yes
LDLR_2401	c.2341del	p.Glu781Argfs*7	LDLR	2	Deletion	Frameshift	Pathogenic	31491741, 32331935	Exon 16		No
LDLR_2403	c.2343del	p.Lys782Argfs*6	LDLR	1	Deletion	Frameshift	Pathogenic	11810272	Exon 16		No
LDLR_2402	c.2343G>T	p.Glu781Asp	LDLR	3	SNV	Missense	Uncertain Significance	11668627, 15576851, 27765764	Exon 16		Yes
LDLR_2404	c.2343_2347del	p.Lys782Alafs*3	LDLR	3	Deletion	Frameshift	Pathogenic	10735632, 11810272, 21382890	Exon 16		No
LDLR_2405	c.2344A>T	p.Lys782*	LDLR	2	SNV	Nonsense	Pathogenic	27932355, 30827231	Exon 16		Yes
LDLR_2406	c.2347A>C	p.Lys783Gln	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 16		Yes
LDLR_2407	c.2356A>G	p.Ser786Gly	LDLR	1	SNV	Missense	Uncertain Significance	25647241	Exon 16		Yes
LDLR_2408	c.2356A>T	p.Ser786Cys	LDLR	10	SNV	Missense	Uncertain Significance	11845603, 9237502, 9430375	Exon 16	Xanthomas	Yes
LDLR_2409	c.2358C>T	p.Ser786=	LDLR	1	SNV	Silent	Likely Benign	34511120	Exon 16		Yes
LDLR_2410	c.2359G>A	p.Val787Met	LDLR	2	SNV	Missense	Uncertain Significance	20538126	Exon 16		Yes
LDLR_2411	c.2364G>T	p.Arg788Ser	LDLR	1	SNV	Missense	Uncertain Significance	23375686	Exon 16		Yes
LDLR_2412	c.2366C>T	p.Ala789Val	LDLR	1	SNV	Missense	Uncertain Significance	36093157	Exon 16		No
LDLR_2413	c.2369T>G	p.Leu790Arg	LDLR	1	SNV	Missense	Uncertain Significance	28334946	Exon 16		No
LDLR_2414	c.2370_2389+20del	Intronic	LDLR	3	Deletion	Splice donor	Pathogenic	27816806, 32044282	Exon 16		Yes
LDLR_2415	c.2374del	p.Ile792Leufs*137	LDLR	2	Deletion	Frameshift	Pathogenic	33418990	Exon 16		No
LDLR_2416	c.2374A>T	p.Ile792Phe	LDLR	1	SNV	Missense	Likely Pathogenic	1301956	Exon 16		Yes
LDLR_2417	c.2375T>C	p.Ile792Thr	LDLR	6	SNV	Missense	Uncertain Significance	18096825, 19446849, 23375686, Show More >>	Exon 16		Yes
LDLR_2418	c.2376del	p.Ile792Metfs*137	LDLR	1	Deletion	Frameshift	Pathogenic	33418990	Exon 16		No
LDLR_2419	c.2378T>C	p.Val793Ala	LDLR	1	SNV	Missense	Uncertain Significance	34176852	Exon 16		No
LDLR_2420	c.2381T>G	p.Leu794Arg	LDLR	1	SNV	Missense	Uncertain Significance	28334946	Exon 16		No
LDLR_2421	c.2381_2382del	p.Leu794Profs*22	LDLR	1	Deletion	Frameshift	Pathogenic	28235710	Exon 16		No
LDLR_2422	c.2383C>G	p.Pro795Ala	LDLR	1	SNV	Missense	Uncertain Significance	29353225	Exon 16		No
LDLR_2424	c.2384C>T	p.Pro795Leu	LDLR	1	SNV	Missense	Uncertain Significance	24918045	Exon 16		No
LDLR_2425	c.2384C>G	p.Pro795Arg	LDLR	1	SNV	Missense	Uncertain Significance	28334946	Exon 16		Yes
LDLR_2423	c.2384C>A	p.Pro795His	LDLR	1	SNV	Missense	Uncertain Significance	11857755	Exon 16		Yes
LDLR_2426	c.2385del	p.Ile796Serfs*133	LDLR	1	Deletion	Frameshift	Pathogenic	20828696	Exon 16		No
LDLR_2429	c.2389G>C	p.Val797Leu	LDLR	1	SNV	Missense	Likely Pathogenic	33418990	Exon 16		Yes
LDLR_2427	c.2389G>T	p.Val797Leu	LDLR	3	SNV	Missense	Likely Pathogenic	10735632, 19411563, 20828696	Exon 16		Yes
LDLR_2428	c.2389G>A	p.Val797Met	LDLR	110	SNV	Missense	Pathogenic	11600564, 11668640, 11810272, Show More >>	Exon 16	Corneal arcus, xanthomas, Coronary artery disease, Coronary artery disease, cabg Show More >>	Yes
LDLR_2430	c.2389+1G>A	Intronic	LDLR	5	SNV	Splice donor	Pathogenic	10208479, 10978268, 11313767, Show More >>	Intron 16	Xanthomas, coronary artery disease	Yes
LDLR_2431	c.2389+1G>T	Intronic	LDLR	4	SNV	Splice donor	Pathogenic	19208450, 21382890, 23375686, Show More >>	Intron 16	Xanthomas	Yes
LDLR_2432	c.2389+1_2389+2insGGCCCCA	Intronic	LDLR	1	Insertion	Splice donor	Pathogenic	23375686	Intron 16		No
LDLR_2433	c.2389+2T>G	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	33418990	Intron 16		Yes
LDLR_2435	c.2389+4dup	Intronic	LDLR	1	Duplication	Splice region	Uncertain Significance	33740630	Intron 16		No
LDLR_2434	c.2389+4A>G	Intronic	LDLR	112	SNV	Splice region	Uncertain Significance	15241806, 18243212, 28475941, Show More >>	Intron 16		Yes
LDLR_2436	c.2389+5G>A	Intronic	LDLR	10	SNV	Splice region	Likely Pathogenic	20145306, 23375686, 26892515, Show More >>	Intron 16		Yes
LDLR_2437	c.2389+5G>C	Intronic	LDLR	6	SNV	Splice region	Uncertain Significance	28964736, 32423031, 33418990	Intron 16		Yes
LDLR_2438	c.2389+5G>T	Intronic	LDLR	1	SNV	Splice region	Uncertain Significance	15823276	Intron 16		Yes
LDLR_2439	c.2389+5_2389+6insA	Intronic	LDLR	1	Insertion	Splice region	Uncertain Significance	22836070	Intron 16	Corneal arcus, xanthomas	No
LDLR_2440	c.2389+8C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	18096825	Intron 16		Yes
LDLR_2441	c.2389+14G>A	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	20809525	Intron 16		Yes
LDLR_2442	c.2389+19C>T	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	24284361	Intron 16		Yes
LDLR_2443	c.2389+23G>A	Intronic	LDLR	2	SNV	Intronic	Uncertain Significance	23815734	Intron 16		Yes
LDLR_2444	c.2389+41C>A	Intronic	LDLR	1	SNV	Intronic	Benign	20145306	Intron 16		Yes
LDLR_2445	c.2389+46C>T	Intronic	LDLR	1	SNV	Intronic	Benign	25606447	Intron 16		Yes
LDLR_2446	c.2389+47G>A	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 16		Yes
LDLR_2447	c.2389+57C>T	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 16		Yes
LDLR_2448	c.2389+116G>A	Intronic	LDLR	1	SNV	Intronic	Benign	28873201	Intron 16		No
LDLR_2449	c.2390-16G>A	Intronic	LDLR	4	SNV	Intronic	Uncertain Significance	20145306	Intron 16		Yes
LDLR_2450	c.2390-2A>G	Intronic	LDLR	17	SNV	Splice acceptor	Pathogenic	10441197, 12052488, 20145306, Show More >>	Intron 16	Xanthomas, coronary artery disease	Yes
LDLR_2451	c.2390-2A>T	Intronic	LDLR	1	SNV	Splice acceptor	Pathogenic	34526433	Intron 16		No
LDLR_2453	c.2390-1G>A	Intronic	LDLR	16	SNV	Splice acceptor	Pathogenic	11851376, 16465405, 20091938, Show More >>	Intron 16	Cardiovascular disease, valvular heart disease, cardiac rhythm disorder, Coronary artery disease, Coronary artery disease, valvular heart disease	Yes
LDLR_2452	c.2390-1G>C	Intronic	LDLR	23	SNV	Splice acceptor	Pathogenic	10206683, 10790219, 12436241, Show More >>	Intron 16		Yes
LDLR_2454	c.2390T>A	p.Val797Glu	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 17		No
LDLR_2455	c.2392_2400del	p.Leu798_Val800del	LDLR	1	Deletion	Deletion	Uncertain Significance	15556094	Exon 17		Yes
LDLR_2456	c.2393T>G	p.Leu798Arg	LDLR	1	SNV	Missense	Likely Pathogenic	26220972	Exon 17		Yes
LDLR_2457	c.2395_2404del	p.Leu799Phefs*127	LDLR	1	Deletion	Frameshift	Pathogenic	36769678	Exon 17		No
LDLR_2458	c.2396T>G	p.Leu799Arg	LDLR	3	SNV	Missense	Likely Pathogenic	22698793, 32044282	Exon 17		Yes
LDLR_2459	c.2397del	p.Val800Serfs*129	LDLR	1	Deletion	Frameshift	Pathogenic	28169869	Exon 17		No
LDLR_2460	c.2397_2405del	p.Val800_Leu802del	LDLR	2784	Deletion	Deletion	Likely Pathogenic	10090484, 10357843, 10532689, Show More >>	Exon 17	Cardiovascular disease, Coronary artery disease, cabg, Myocardial infarction, pe Show More >>	No
LDLR_2461	c.2397_2412del	p.Val800Glyfs*124	LDLR	2	Deletion	Frameshift	Pathogenic	26020417	Exon 17		Yes
LDLR_2462	c.2398G>T	p.Val800Phe	LDLR	1	SNV	Missense	Uncertain Significance	35130036	Exon 17		No
LDLR_2463	c.2398G>A	p.Val800Ile	LDLR	1	SNV	Missense	Uncertain Significance	28179607	Exon 17		Yes
LDLR_2465	c.2399del	p.Val800Alafs*129	LDLR	1	Deletion	Frameshift	Pathogenic	28169869	Exon 17		No
LDLR_2464	c.2399T>A	p.Val800Asp	LDLR	1	SNV	Missense	Uncertain Significance	28169869	Exon 17		Yes
LDLR_2466	c.2399_2403delinsGGGT	p.Val800Glyfs*129	LDLR	4	Delins	Frameshift	Pathogenic	15241806, 17765246	Exon 17		No
LDLR_2467	c.2403_2406del	p.Leu802Alafs*126	LDLR	3	Deletion	Frameshift	Pathogenic	20809525, 29870584, 34692794	Exon 17	Xanthomas, valvular heart disease	No
LDLR_2468	c.2405T>G	p.Leu802Arg	LDLR	1	SNV	Missense	Likely Pathogenic	28334946	Exon 17		No
LDLR_2469	c.2407T>C	p.Cys803Arg	LDLR	1	SNV	Missense	Likely Pathogenic	28379029	Exon 17		Yes
LDLR_2470	c.2407_2424del	p.Cys803_Leu808del	LDLR	1	Deletion	Deletion	Likely Pathogenic	26220972	Exon 17		No
LDLR_2471	c.2407_2424dup	p.Cys803_Leu808dup	LDLR	1	Duplication	In-frame duplication	Uncertain Significance	26220972	Exon 17		No
LDLR_2472	c.2408_2409dup	p.Leu804Alafs*126	LDLR	1	Duplication	Frameshift	Pathogenic	11810272	Exon 17		Yes
LDLR_2473	c.2411T>G	p.Leu804Arg	LDLR	1	SNV	Missense	Likely Pathogenic	28334946	Exon 17		No
LDLR_2474	c.2411T>C	p.Leu804Pro	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 17		Yes
LDLR_2476	c.2413G>A	p.Gly805Arg	LDLR	1	SNV	Missense	Likely Pathogenic	24918045	Exon 17		Yes
LDLR_2475	c.2413G>C	p.Gly805Arg	LDLR	2	SNV	Missense	Likely Pathogenic	39157547	Exon 17	Angina, cardiovascular disease, coronary artery disease, valvular heart disease, cardiac rhythm disorder	Yes
LDLR_2477	c.2414G>C	p.Gly805Ala	LDLR	1	SNV	Missense	Uncertain Significance	24918045	Exon 17		No
LDLR_2478	c.2416del	p.Val806Serfs*123	LDLR	3	Deletion	Frameshift	Pathogenic	16542394, 20809525	Exon 17		No
LDLR_2479	c.2416dup	p.Val806Glyfs*11	LDLR	77	Duplication	Frameshift	Pathogenic	34176852, 10611908, 11524740, Show More >>	Exon 17	Corneal arcus, xanthomas, Coronary artery disease, peripheral vascular disease, Xanthomas	No
LDLR_2480	c.2417T>A	p.Val806Asp	LDLR	1	SNV	Missense	Uncertain Significance	11462246	Exon 17		Yes
LDLR_2482	c.2417_2418insGG	p.Phe807Alafs*123	LDLR	1	Insertion	Frameshift	Pathogenic	33519890	Exon 17		Yes
LDLR_2481	c.2417_2418insG	p.Phe807Leufs*10	LDLR	5	Insertion	Frameshift	Pathogenic	17765246, 23369702, 27919364, Show More >>	Exon 17	Xanthelasmas, xanthomas, Xanthomas, valvular heart disease	Yes
LDLR_2483	c.2418dup	p.Phe807Leufs*10	LDLR	1	Duplication	Frameshift	Pathogenic	33519890	Exon 17		No
LDLR_2484	c.2418_2419insG	p.Phe807Valfs*10	LDLR	1	Insertion	Frameshift	Pathogenic	33519890	Exon 17		No
LDLR_2485	c.2420del	p.Phe807Serfs*122	LDLR	1	Deletion	Frameshift	Pathogenic	33519890	Exon 17		No
LDLR_2486	c.2420_2426del	p.Phe807Tyrfs*120	LDLR	1	Deletion	Frameshift	Pathogenic	11462246	Exon 17		No
LDLR_2487	c.2423T>G	p.Leu808Arg	LDLR	1	SNV	Missense	Uncertain Significance	28334946	Exon 17		No
LDLR_2488	c.2426T>G	p.Leu809Arg	LDLR	1	SNV	Missense	Uncertain Significance	28334946	Exon 17		No
LDLR_2489	c.2427A>T	p.Leu809=	LDLR	1	SNV	Silent	Uncertain Significance	29269200	Exon 17		No
LDLR_2490	c.2429G>A	p.Trp810*	LDLR	1	SNV	Nonsense	Pathogenic	33418990	Exon 17		Yes
LDLR_2491	c.2430G>A	p.Trp810*	LDLR	1	SNV	Nonsense	Pathogenic	16250003	Exon 17		Yes
LDLR_2492	c.2431A>T	p.Lys811*	LDLR	1012	SNV	Nonsense	Pathogenic	34176852, 10447263, 11030204, Show More >>	Exon 17	Xanthomas, Xanthomas, angina, coronary artery disease, Xanthomas, coronary artery disease	Yes
LDLR_2493	c.2432A>G	p.Lys811Arg	LDLR	1	SNV	Missense	Uncertain Significance	23242996	Exon 17		Yes
LDLR_2494	c.2438G>A	p.Trp813*	LDLR	1	SNV	Nonsense	Pathogenic	29172679	Exon 17		Yes
LDLR_2495	c.2439G>A	p.Trp813*	LDLR	10	SNV	Nonsense	Pathogenic	10532689, 1677927, 17539906, Show More >>	Exon 17		Yes
LDLR_2496	c.2441G>A	p.Arg814Gln	LDLR	7	SNV	Missense	Uncertain Significance	10882754, 11845603, 16250003, Show More >>	Exon 17		Yes
LDLR_2497	c.2442G>T	p.Arg814=	LDLR	1	SNV	Silent	Uncertain Significance	29269200	Exon 17		No
LDLR_2498	c.2446A>T	p.Lys816*	LDLR	13	SNV	Nonsense	Pathogenic	18757057, 20144596, 20809525, Show More >>	Exon 17		Yes
LDLR_2499	c.2447A>G	p.Lys816Arg	LDLR	1	SNV	Missense	Uncertain Significance	23242996	Exon 17		Yes
LDLR_2500	c.2447_2450dup	p.Asn817Lysfs*9	LDLR	1	Duplication	Frameshift	Pathogenic	1677927	Exon 17		No
LDLR_2501	c.2448G>C	p.Lys816Asn	LDLR	1	SNV	Missense	Uncertain Significance	33418990	Exon 17		Yes
LDLR_2502	c.2452_2453insGAAA	p.Ile818Argfs*8	LDLR	6	Insertion	Frameshift	Pathogenic	11472754, 11737238, 12492446	Exon 17		No
LDLR_2503	c.2458_2466del	p.Ser820_Asn822del	LDLR	1	Deletion	Deletion	Uncertain Significance	30270091	Exon 17		No
LDLR_2504	c.2459_2464del	p.Ser820_Ile821del	LDLR	1	Deletion	Deletion	Uncertain Significance	18700895	Exon 17		No
LDLR_2505	c.2472C>T	p.Asp824=	LDLR	1	SNV	Silent	Uncertain Significance	29269200	Exon 17		Yes
LDLR_2506	c.2473A>G	p.Asn825Asp	LDLR	2	SNV	Missense	Likely Pathogenic	15556094, 33418990	Exon 17		Yes
LDLR_2508	c.2475C>G	p.Asn825Lys	LDLR	5	SNV	Missense	Pathogenic	10532689, 11668627, 18096825, Show More >>	Exon 17	Corneal arcus, xanthomas	Yes
LDLR_2507	c.2475C>A	p.Asn825Lys	LDLR	31	SNV	Missense	Pathogenic	11600564, 11668640, 14508510, Show More >>	Exon 17	Cardiovascular disease	Yes
LDLR_2509	c.2476C>G	p.Pro826Ala	LDLR	1	SNV	Missense	Uncertain Significance	22109552	Exon 17		No
LDLR_2510	c.2476C>T	p.Pro826Ser	LDLR	1	SNV	Missense	Uncertain Significance	19319977	Exon 17		Yes
LDLR_2511	c.2476C>A	p.Pro826Thr	LDLR	3	SNV	Missense	Uncertain Significance	23669246, 31947532	Exon 17		Yes
LDLR_2512	c.2479G>A	p.Val827Ile	LDLR	23	SNV	Missense	Likely Pathogenic	10735632, 11810272, 1301956, Show More >>	Exon 17	Coronary artery disease, cabg, peripheral vascular disease	Yes
LDLR_2513	c.2480T>C	p.Val827Ala	LDLR	1	SNV	Missense	Uncertain Significance	22109552	Exon 17		No
LDLR_2514	c.2482T>A	p.Tyr828Asn	LDLR	1	SNV	Missense	Likely Pathogenic	26802169	Exon 17		No
LDLR_2515	c.2482T>C	p.Tyr828His	LDLR	1	SNV	Missense	Likely Pathogenic	20809525	Exon 17		Yes
LDLR_2516	c.2483A>T	p.Tyr828Phe	LDLR	1	SNV	Missense	Uncertain Significance	3104336	Exon 17		No
LDLR_2518	c.2483A>G	p.Tyr828Cys	LDLR	19	SNV	Missense	Pathogenic	16466730, 19446849, 200368, Show More >>	Exon 17		Yes
LDLR_2517	c.2483A>C	p.Tyr828Ser	LDLR	1	SNV	Missense	Likely Pathogenic	22883975	Exon 17		Yes
LDLR_2519	c.2485C>T	p.Gln829*	LDLR	1	SNV	Nonsense	Pathogenic	30293936	Exon 17		Yes
LDLR_2520	c.2486A>C	p.Gln829Pro	LDLR	1	SNV	Missense	Uncertain Significance	3104336	Exon 17		No
LDLR_2521	c.2489A>G	p.Lys830Arg	LDLR	1	SNV	Missense	Uncertain Significance	26980316	Exon 17		No
LDLR_2522	c.2495del	p.Thr832Lysfs*97	LDLR	1	Deletion	Frameshift	Pathogenic	32120369	Exon 17		No
LDLR_2523	c.2497G>T	p.Glu833*	LDLR	1	SNV	Nonsense	Likely Pathogenic	22079632	Exon 17		No
LDLR_2524	c.2500del	p.Asp834Metfs*95	LDLR	1	Deletion	Frameshift	Pathogenic	34456200	Exon 17		No
LDLR_2525	c.2500_2501insC	p.Asp834Alafs*2	LDLR	1	Insertion	Frameshift	Pathogenic	34456200	Exon 17		No
LDLR_2526	c.2500_2502delinsC	p.Asp834Argfs*24	LDLR	3	Delins	Frameshift	Pathogenic	25962062, 34456200	Exon 17		No
LDLR_2527	c.2502dup	p.Glu835*	LDLR	1	Duplication	Nonsense	Likely Pathogenic	38695169	Exon 17	Coronary artery disease, metabolic phenotype
LDLR_2528	c.2506G>A	p.Val836Ile	LDLR	1	SNV	Missense	Uncertain Significance	16250003	Exon 17		Yes
LDLR_2529	c.2509del	p.His837Thrfs*92	LDLR	3	Deletion	Frameshift	Pathogenic	20809525, 25461735	Exon 17		No
LDLR_2530	c.2510A>G	p.His837Arg	LDLR	1	SNV	Missense	Uncertain Significance	29269200	Exon 17		Yes
LDLR_2531	c.2518C>A	p.His840Asn	LDLR	1	SNV	Missense	Uncertain Significance	29269200	Exon 17		No
LDLR_2532	c.2529_2530delinsA	p.Asp843Glufs*86	LDLR	9	Delins	Frameshift	Pathogenic	32922439	Exon 17		No
LDLR_2533	c.2530G>A	p.Gly844Ser	LDLR	1	SNV	Missense	Likely Pathogenic	36499307	Exon 17		Yes
LDLR_2534	c.2531G>A	p.Gly844Asp	LDLR	3	SNV	Missense	Likely Pathogenic	32522009, 33418990, 7573037	Exon 17		Yes
LDLR_2535	c.2541C>A	p.Tyr847*	LDLR	1	SNV	Nonsense	Likely Pathogenic	35999587	Exon 17		No
LDLR_2537	c.2546C>A	p.Ser849*	LDLR	1	SNV	Nonsense	Pathogenic	26892515	Exon 17		Yes
LDLR_2536	c.2546del	p.Ser849*	LDLR	1	Deletion	Nonsense	Pathogenic	11933210	Exon 17		Yes
LDLR_2538	c.2547+1G>A	Intronic	LDLR	4	SNV	Splice donor	Pathogenic	17765246, 20828696, 35052492	Intron 17		Yes
LDLR_2539	c.2547+2T>G	Intronic	LDLR	1	SNV	Splice donor	Pathogenic	34297352	Intron 17		Yes
LDLR_2540	c.2547+3G>C	Intronic	LDLR	1	SNV	Splice region	Uncertain Significance	20145306	Intron 17		Yes
LDLR_2542	c.2547+5G>A	Intronic	LDLR	3	SNV	Splice region	Uncertain Significance	27816806, 32044282	Intron 17	Corneal arcus, xanthomas, Xanthomas	Yes
LDLR_2541	c.2547+5G>C	Intronic	LDLR	1	SNV	Splice region	Uncertain Significance	20809525	Intron 17		Yes
LDLR_2543	c.2547+8_2547+9del	Intronic	LDLR	1	Deletion	Intronic	Uncertain Significance	12052488	Intron 17		No
LDLR_2544	c.2548-177G>A	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 17		Yes
LDLR_2545	c.2548-161A>G	Intronic	LDLR	1	SNV	Intronic	Uncertain Significance	12436241	Intron 17		No
LDLR_2546	c.2548-147G>A	Intronic	LDLR	1	SNV	Intronic	Benign	12436241	Intron 17		Yes
LDLR_2547	c.2548-80G>A	Intronic	LDLR	1	SNV	Intronic	Benign	25606447	Intron 17		Yes
LDLR_2548	c.2548-53G>A	Intronic	LDLR	1	SNV	Intronic	Benign	28873201	Intron 17		No
LDLR_2549	c.2548-42A>G	Intronic	LDLR	1	SNV	Intronic	Benign	29807574	Intron 17		Yes
LDLR_2550	c.2548-1G>C	Intronic	LDLR	2	SNV	Splice acceptor	Pathogenic	31491741, 32331935	Intron 17		No
LDLR_2551	c.2548A>T	p.Arg850*	LDLR	1	SNV	Nonsense	Likely Pathogenic	17581630	Exon 18		No
LDLR_2552	c.2549G>A	p.Arg850Lys	LDLR	1	SNV	Missense	Uncertain Significance	16542394	Exon 18		Yes
LDLR_2553	c.2554_2561del	p.Met852Serfs*4	LDLR	1	Deletion	Frameshift	Pathogenic	28964736	Exon 18		No
LDLR_2554	c.2560A>G	p.Ser854Gly	LDLR	5	SNV	Missense	Likely Pathogenic	33231818, 35137788	Exon 18		Yes
LDLR_2555	c.2560_2563del	p.Ser854Trpfs*74	LDLR	1	Deletion	Frameshift	Pathogenic	34456200	Exon 18		No
LDLR_2556	c.2563C>G	p.Leu855Val	LDLR	1	SNV	Missense	Uncertain Significance	31491741	Exon 18		Yes
LDLR_2557	c.2566G>T	p.Glu856*	LDLR	1	SNV	Nonsense	Likely Pathogenic	22079632	Exon 18		No
LDLR_2558	c.2574_2575insA	p.Val859Serfs*73	LDLR	1	Insertion	Frameshift	Pathogenic	33890476	Exon 18		No
LDLR_2559	c.2575G>A	p.Val859Met	LDLR	1	SNV	Missense	Likely Benign	25647241	Exon 18		Yes
LDLR_2560	c.2579C>T	p.Ala860Val	LDLR	1	SNV	Missense	Likely Benign	30745271	Exon 18		Yes
LDLR_2561	c.*52G>A	3UTR	LDLR	1	SNV	UTR	Benign	28873201	Exon 18		Yes
LDLR_2562	c.*141G>A	3UTR	LDLR	1	SNV	UTR	Benign	27771416	Exon 18		Yes
LDLR_2563	c.*315G>C	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2564	c.*377G>A	3UTR	LDLR	1	SNV	UTR	Uncertain Significance	24284361	Exon 18		No
LDLR_2565	c.*504G>A	3UTR	LDLR	1	SNV	UTR	Benign	27771416	Exon 18		Yes
LDLR_2566	c.*666T>C	3UTR	LDLR	1	SNV	UTR	Benign	27771416	Exon 18		Yes
LDLR_2567	c.*773A>G	3UTR	LDLR	1	SNV	UTR	Benign	34844714	Exon 18		Yes
LDLR_2568	c.*803C>T	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2569	c.*878G>A	3UTR	LDLR	1	SNV	UTR	Uncertain Significance	30827231	Exon 18		No
LDLR_2570	c.*982G>C	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2571	c.*1217C>A	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		No
LDLR_2572	c.1235_1237del	3UTR	LDLR	1	Deletion	UTR	Benign	30827231	Exon 18		No
LDLR_2573	c.*1262T>C	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2574	c.*1268C>T	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2575	c.*1269G>A	3UTR	LDLR	1	SNV	UTR	Uncertain Significance	30827231	Exon 18		Yes
LDLR_2576	c.*1332G>A	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2577	c.*1354T>C	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2578	c.*1356C>T	3UTR	LDLR	2	SNV	UTR	Uncertain Significance	30827231	Exon 18		Yes
LDLR_2579	c.*1369C>T	3UTR	LDLR	1	SNV	UTR	Benign	30827231	Exon 18		Yes
LDLR_2581	c.*1419del	3UTR	LDLR	1	Deletion	UTR	Benign		Exon 18		No
LDLR_2580	c.*1419C>A	3UTR	LDLR	1	SNV	UTR	Benign		Exon 18		Yes
LDLR_2582	c.*1430C>T	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2583	c.*1453A>G	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2584	c.*1475G>A	3UTR	LDLR	1	SNV	UTR	Uncertain Significance	38616260	Exon 18		No
LDLR_2585	c.*1510T>C	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2586	c.*1600G>T	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2587	c.*1743C>T	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2588	c.*2054G>A	3UTR	LDLR	1	SNV	UTR	Benign	24284361	Exon 18		Yes
LDLR_2590	c.2208_2211dup	3UTR	LDLR	1	Duplication	UTR	Benign	30827231	Exon 18		No
LDLR_2589	c.2208_2211del	3UTR	LDLR	1	Deletion	UTR	Uncertain Significance	30827231	Exon 18		No
LDLR_2591	c.*2210T>C	3UTR	LDLR	1	SNV	UTR	Benign	30827231	Exon 18		Yes
LDLR_2592	c.2210_2211del	3UTR	LDLR	1	Deletion	UTR	Benign	30827231	Exon 18		No
LDLR_2593	c.1060+10C>G	Intronic	LDLR	1		Intronic	Uncertain Significance	14974088	Intron 7	Cardiac rhythm disorder	Unknown
LDLR_2594	c.(817+1_818-1)_(940+1_941-1)del	Deletion (Exon 6)	LDLR	10	Copy Number Loss	Deletion	Pathogenic	15576851, 27765764, 28964736, Show More >>	Exon 6, Introns 5-6		Unknown
LDLR_2595	c.(?_-86)_(67+1_68-1)del	Deletion (Exon 1)	LDLR	4833	Copy Number Loss	Deletion	Pathogenic	10208489, 11298777, 11397707, Show More >>	Exon 1, Intron 1	Coronary artery disease, Coronary artery disease, valvular heart disease, Valvular heart disease, Xanthomas	Unknown
LDLR_2596	c.(313+1_314-1)_(940+1_941-1)del	Deletion (Exons 4-6)	LDLR	38	Copy Number Loss	Deletion	Pathogenic	11298777, 11600564, 11668640, Show More >>	Exons 4-6, Introns 3-6	Coronary artery disease, peripheral vascular disease	Unknown
LDLR_2597	c.(67+1_68-1)_(940+1_941-1)dup	Gain (Exons 2-6)	LDLR	24	Copy Number Gain	Duplication	Pathogenic	20006333, 21146822, 25014035, Show More >>	Exons 2-6, Introns 1-6		Unknown
LDLR_2598	c.(694+1_695-1)_(940+1_941-1)del	Deletion (Exons 5-6)	LDLR	7	Copy Number Loss	Deletion	Pathogenic	16250003, 16792510, 22910581, Show More >>	Exons 5-6, Introns 4-6	Xanthomas, coronary artery disease	Unknown
LDLR_2599	c.(67+1_68-1)_(817+1_818-1)del	Deletion (Exons 2-5)	LDLR	30	Copy Number Loss	Deletion	Pathogenic	10532689, 17094996, 20144596, Show More >>	Exons 2-5, Introns 1-5	Xanthomas, Xanthomas, coronary artery disease	Unknown
LDLR_2600	c.(67+1_68-1)_(940+1_941-1)del	Deletion (Exons 2-6)	LDLR	34	Copy Number Loss	Deletion	Pathogenic	1319734, 1484944, 15576851, Show More >>	Exons 2-6, Introns 1-6	Coronary artery disease, valvular heart disease	Unknown
LDLR_2601	c.(2389+1_2390-1)_(*2504_?)del	Deletion (Exons 17-18)	LDLR	59	Copy Number Loss	Deletion	Pathogenic	18239150, 19318025, 20006333, Show More >>	Exons 17-18, Introns 16-17	Coronary artery disease, Coronary artery disease, valvular heart disease	Unknown
LDLR_2602	c.(?_-86)_(190+1_191-1)del	Deletion (Exons 1-2)	LDLR	47	Copy Number Loss	Deletion	Pathogenic	10978268, 11298777, 11600564, Show More >>	Exons 1-2, Introns 1-2		Unknown
LDLR_2603	c.(1060+1_1061-1)_(1845+1_1846-1)del	Deletion (Exons 8-12)	LDLR	10	Copy Number Loss	Deletion	Pathogenic	17765246, 20809525, 25962062, Show More >>	Exons 8-12, Introns 7-12	Angina	Unknown
LDLR_2604	c.(190+1_191-1)_(313+1_314-1)del	Deletion (Exon 3)	LDLR	9	Copy Number Loss	Deletion	Pathogenic	11313767, 15576851, 16250003, Show More >>	Exons 3, Introns 2-3	Coronary artery disease, cabg, myocardial infarction	Unknown
LDLR_2605	c.(1845+1_1846-1)_(2311+1_2312-1)del	Deletion (Exons 13-15)	LDLR	36	Copy Number Loss	Deletion	Pathogenic	10978268, 15199436, 15842735, Show More >>	Exons 13-15, Introns 12-15	Coronary artery disease, cabg, Coronary artery disease, peripheral vascular dise Show More >>	Unknown
LDLR_2606	c.(1705+1_1706-1)_(1845+1_1846-1)dup	Gain (Exon 12)	LDLR	7	Copy Number Gain	Duplication	Pathogenic	20809525, 21418584, 26228681, Show More >>	Exons 12, Introns 11-12	Xanthomas, valvular heart disease	Unknown
LDLR_2607	c.(940+1_941-1)_(1060+1_1061-1)del	Deletion (Exon 7)	LDLR	47	Copy Number Loss	Deletion	Pathogenic	10471644, 1319734, 16466730, Show More >>	Exon 7, Introns 6-7	Xanthomas, Xanthomas, coronary artery disease, Xanthomas, valvular heart disease	Unknown
LDLR_2608	c.(1845+1_1846-1)_(2140+1_2141-1)del	Deletion (Exons 13-14)	LDLR	121	Copy Number Loss	Deletion	Pathogenic	10412552, 10978268, 15135251, Show More >>	Exons 13-14, Introns 12-14	Angina, coronary artery disease, cabg, Corneal arcus, xanthomas, Myocardial infarction, Xanthomas	Unknown
LDLR_2609	c.(2389+1_2390-1)_(2547+1_2548-1)del	Deletion (Exon 17)	LDLR	20	Copy Number Loss	Deletion	Pathogenic	10532689, 1863993, 19538517, Show More >>	Exon 17, Introns 16-17	Xanthomas	Unknown
LDLR_2610	c.1846-1894_2140+1498del	Deletion (Exons 13-14)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	23375686	Exons 13-14, Introns 12-14	Xanthomas	Unknown
LDLR_2611	c.2141-966_2390-330del	Deletion (Exons 15-16)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	32423031	Exons 15-16, Introns 14-16	Coronary artery disease, cabg, myocardial infarction	Unknown
LDLR_2612	c.(1987+1_1988-1)_(2311+1_2312-1)del	Deletion (Exons 14-15)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	9261272	Exons 14-15, Introns 13-15	Xanthomas, angina, coronary artery disease	Unknown
LDLR_2613	c.(?_-86)_(*2504_?)del	Deletion (Entire gene)	LDLR	7	Copy Number Loss	Deletion	Pathogenic	17094996, 20809525, 31578082, Show More >>	Exons 1-18, Introns 1-17	Coronary artery disease, peripheral vascular disease	Unknown
LDLR_2614	c.(313+1_314-1)_(1845+1_1846-1)del	Deletion (Exons 4-12)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	19713675, 20962452, 25014035, Show More >>	Exons 4-12, Introns 3-12	Xanthomas, Xanthomas, coronary artery disease	Unknown
LDLR_2615	c.(1586+1_1587-1)_(1845+1_1846-1)del	Deletion (Exons 11-12)	LDLR	41	Copy Number Loss	Deletion	Pathogenic	10978268, 19446849, 19467224, Show More >>	Exons 11-12, Introns 10-12	Xanthomas	Unknown
LDLR_2616	c.(2311+1_2312-1)_(*2504_?)del	Deletion (Exons 16-18)	LDLR	255	Copy Number Loss	Deletion	Pathogenic	10664894, 10947889, 12891228, Show More >>	Exons 16-18, Introns 15-17	Xanthomas, peripheral vascular disease, valvular heart disease	Unknown
LDLR_2617	c.(940+1_941-1)_(1845+1_1846-1)del	Deletion (Exons 7-12)	LDLR	6	Copy Number Loss	Deletion	Pathogenic	20145306, 22698793, 32660911, Show More >>	Exons 7-12, Introns 6-12	Xanthomas, valvular heart disease	Unknown
LDLR_2618	c.(1060+1_1061-1)_(1705+1_1706-1)del	Deletion (Exons 8-11)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	26020417	Exons 8-11, Introns 7-11	Angina	Unknown
LDLR_2619	c.(1586+1_1587-1)_(2140+1_2141-1)del	Deletion (Exons 11-14)	LDLR	56	Copy Number Loss	Deletion	Pathogenic	15199436, 15936313, 22353362, Show More >>	Exons 11-14, Introns 10-14	Xanthomas	Unknown
LDLR_2620	c.(1586+1_1587-1)_(1705+1_1706-1)del	Deletion (Exon 11)	LDLR	11	Copy Number Loss	Deletion	Pathogenic	20538126, 20809525, 21376320, Show More >>	Exon 11, Introns 10-11	Xanthomas	Unknown
LDLR_2621	c.(67+1_68-1)_(313+1_314-1)del	Deletion (Exons 2-3)	LDLR	232	Copy Number Loss	Deletion	Pathogenic	12052488, 12417285, 12730724, Show More >>	Exons 2-3, Introns 1-3	Xanthomas	Unknown
LDLR_2622	c.(940+1_941-1)_(1186+1_1187-1)del	Deletion (Exons 7-8)	LDLR	546	Copy Number Loss	Deletion	Pathogenic	10422804, 11257257, 11810272, Show More >>	Exons 7-8, Introns 6-8		Unknown
LDLR_2623	c.(67+1_68-1)_(1845+1_1846-1)del	Deletion (Exons 2-12)	LDLR	202	Copy Number Loss	Deletion	Pathogenic	10978268, 11440106, 15135251, Show More >>	Exons 2-12, Introns 1-12	Corneal arcus, xanthomas, Peripheral vascular disease	Unknown
LDLR_2624	c.(2311+1_2312-1)_(2547+1_2548-1)del	Deletion (Exons 16-17)	LDLR	19	Copy Number Loss	Deletion	Pathogenic	17094996, 18718593, 22698793, Show More >>	Exons 16-17, Introns 15-17		Unknown
LDLR_2625	c.941-190_1061-270del	Deletion (Exon 7)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	35052492	Exon 7, Introns 6-7		Unknown
LDLR_2626	c.(?_-86)_(940+1_941-1)del	Deletion (Exons 1-6)	LDLR	22	Copy Number Loss	Deletion	Pathogenic	10978268, 15576851, 18239150, Show More >>	Exons 1-6, Introns 1-6	Coronary artery disease, cabg, Coronary artery disease, valvular heart disease, Xanthomas, Xanthomas, angina, coronary artery disease, cabg	Unknown
LDLR_2627	c.(2140+1_2141-1)_(*2504_?)del	Deletion (Exons 15-18)	LDLR	33	Copy Number Loss	Deletion	Pathogenic	1319734, 16250003, 16792510, Show More >>	Exons 15-18, Introns 14-17		Unknown
LDLR_2628	c.(1846_1987)_(2311+1_2312-1)del	Partial Deletion (Exons 13-15)	LDLR	6	Copy Number Loss	Deletion	Pathogenic	200368, 3012527, 3955657	Exons 13-15, Introns 13-15		Unknown
LDLR_2629	c.(190+1_191-1)_(817+1_818-1)dup	Gain (Exons 3-5)	LDLR	9	Copy Number Gain	Duplication	Pathogenic	20538126, 21376320, 22353362, Show More >>	Exons 3-5, Introns 2-5	Xanthomas	Unknown
LDLR_2630	c.(940+1_941-1)_(2311+1_2312-1)dup	Gain (Exons 7-15)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	31947532	Exons 7-15, Introns 6-15		Unknown
LDLR_2631	c.(313+1_314-1)_(1186+1_1187-1)dup	Gain (Exons 4-8)	LDLR	142	Copy Number Gain	Duplication	Pathogenic	16792510, 20145306, 21382890, Show More >>	Exons 4-8, Introns 3-8		Unknown
LDLR_2632	c.(313+1_314-1)_(694+1_695-1)del	Deletion (Exon 4)	LDLR	15	Copy Number Loss	Deletion	Pathogenic	12705331, 24075752, 25608117	Exon 4, Introns 3-4	Valvular heart disease	Unknown
LDLR_2633	c.(1586+1_1587-1)_(*2504_?)del	Deletion (Exons 11-18)	LDLR	24	Copy Number Loss	Deletion	Pathogenic	15936313, 28964736, 28965616	Exons 11-18, Introns 10-17		Unknown
LDLR_2634	c.(313+1_314-1)_(*2504_?)del	Deletion (Exons 4-18)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	24014831, 28964736, 28965616	Exons 4-18, Introns 3-17		Unknown
LDLR_2635	c.(190+1_191-1)_(1060+1_1061-1)del	Deletion (Exons 3-7)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	28964736, 29396260	Exons 3-7, Introns 2-7		Unknown
LDLR_2636	c.(?_-86)_(817+1_818-1)del	Deletion (Exons 1-5)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	1319734	Exons 1-5, Introns 1-5		Unknown
LDLR_2637	c.?	p.Asn665Lys	LDLR	1		Missense	Uncertain Significance	31371270	Exon 14		Unknown
LDLR_2638	c.?	p.Gly549Trp	LDLR	1		Missense	Uncertain Significance	16627557	Exon 11		Unknown
LDLR_2639	c.313+6C>T	Intronic	LDLR	1		Splice region	Uncertain Significance	17765246, 20964105	Intron 3		Unknown
LDLR_2640	c.(1186+1_1187-1)_(2140+1_2141-1)del	Deletion (Exons 9-14)	LDLR	29	Copy Number Loss	Deletion	Pathogenic	15842735, 30270076, 32922439, Show More >>	Exons 9-14, Introns 8-14	Corneal arcus, xanthelasmas, xanthomas, coronary artery disease, peripheral vascular disease	Unknown
LDLR_2641	c.(940+1_941-1)_(2140+1_2141-1)del	Deletion (Exons 7-14)	LDLR	32	Copy Number Loss	Deletion	Pathogenic	1319734, 17094996, 18718593, Show More >>	Exons 7-14, Introns 6-14	Xanthomas, coronary artery disease, cabg	Unknown
LDLR_2642	c.(1845+1_1846-1)_(*2504_?)del	Deletion (Exons 13-18)	LDLR	15	Copy Number Loss	Deletion	Pathogenic	10978268, 16343504, 16792510, Show More >>	Exons 13-18, Introns 12-17	Coronary artery disease, cabg, myocardial infarction	Unknown
LDLR_2643	c.119_1207del	p.Ser41_Phe403del	LDLR	2	Copy Number Loss	Deletion	Pathogenic	31102204	Exons 2-9, Introns 2-8	Xanthomas, coronary artery disease	Unknown
LDLR_2644	c.(67+1_68-1)_(694+1_695-1)del	Deletion (Exons 2-4)	LDLR	7	Copy Number Loss	Deletion	Pathogenic	12730724, 15936313	Exons 2-4, Introns 1-4	Corneal arcus, xanthelasmas, xanthomas, coronary artery disease	Unknown
LDLR_2645	c.(1186+1_1187-1)_(1845+1_1846-1)del	Deletion (Exons 9-12)	LDLR	35	Copy Number Loss	Deletion	Pathogenic	10471644, 15199436, 15936313, Show More >>	Exons 9-12, Introns 8-12	Coronary artery disease, Xanthomas, Xanthomas, coronary artery disease	Unknown
LDLR_2646	c.(-86_*2504)delN[?]	p.?	LDLR	1	Copy Number Loss	Deletion	Pathogenic	21882079	Unknown	Xanthomas, angina, cardiovascular disease, coronary artery disease, peripheral vascular disease, cardiac rhythm disorder	Unknown
LDLR_2647	c.(940+1_941-1)_(2311+1_2312-1)del	Deletion (Exons 7-15)	LDLR	10	Copy Number Loss	Deletion	Pathogenic	15936313, 16250003, 16792510, Show More >>	Exons 7-15, Introns 6-15	Coronary artery disease, metabolic phenotype	Unknown
LDLR_2648	c.(-86_*2504)delN[15000]	Deletion (Exon 1)	LDLR	319	Copy Number Loss	Deletion	Pathogenic	18239150, 34774719	Exon 1, Intron 1	Valvular heart disease	Unknown
LDLR_2649	c.(190+1_191-1)_(940+1_941-1)del	Deletion (Exons 3-6)	LDLR	38	Copy Number Loss	Deletion	Pathogenic	10532689, 11246453, 16250003, Show More >>	Exons 3-6, Introns 2-6	Xanthomas	Unknown
LDLR_2650	c.(694+1_695-1)_(817+1_818-1)del	Deletion (Exon 5)	LDLR	23	Copy Number Loss	Deletion	Pathogenic	10532689, 1319734, 15842735, Show More >>	Exon 5, Introns 4-5	Xanthomas	Unknown
LDLR_2651	c.(1186+1_1187-1)_(1586+1_1587-1)del	Deletion (Exons 9-10)	LDLR	17	Copy Number Loss	Deletion	Pathogenic	15199436, 15936313, 18718593, Show More >>	Exons 9-10, Introns 8-10	Xanthelasmas, xanthomas	Unknown
LDLR_2652	c.[(2389+1_2390-1)_(2547+1_2548-1)del;(2547+1_2548-1)_(*2504_?)inv]	Complex rearrangement	LDLR	2	Complex rearrangement	Complex rearrangement	Pathogenic	26894473	Unknown	Xanthomas	Unknown
LDLR_2653	c.(-86_*2504)delN[2500]	Deletion (Exons 7-8)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	2105647	Exons 7-8, Introns 6-8	Corneal arcus, xanthomas	Unknown
LDLR_2654	c.(2140+1_2141-1)_(2389+1_2390-1)del	Deletion (Exons 15-16)	LDLR	14	Copy Number Loss	Deletion	Pathogenic	24529145, 2544509, 25461735, Show More >>	Exons 15-16, Introns 14-16		Unknown
LDLR_2655	c.(1705+1_1706-1)_(1845+1_1846-1)del	Deletion (Exon 12)	LDLR	9	Copy Number Loss	Deletion	Pathogenic	19538517, 27578128, 27784735, Show More >>	Exons 12, Introns 11-12		Unknown
LDLR_2656	c.(2140+1_2141-1)_(2311+1_2312-1)del	Deletion (Exon 15)	LDLR	48	Copy Number Loss	Deletion	Pathogenic	12417285, 1315570, 20006333, Show More >>	Exon 15, Introns 14-15		Unknown
LDLR_2657	c.(817+1_818-1)_(1186+1_1187-1)del	Deletion (Exons 6-8)	LDLR	11	Copy Number Loss	Deletion	Pathogenic	12837857, 16092059, 22353362, Show More >>	Exons 6-8, Introns 5-8		Unknown
LDLR_2658	c.191-512_940+631del	Deletion (Exons 3-6)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	37119068	Exons 3-6, Introns 2-6		Unknown
LDLR_2659	c.(2311+1_2312-1)_(2547+1_2548-1)dup	Gain (Exons 16-17)	LDLR	11	Copy Number Gain	Duplication	Pathogenic	10978268, 16343504, 19446849, Show More >>	Exons 16-17, Introns 15-17	Coronary artery disease, valvular heart disease	Unknown
LDLR_2660	c.(1586+1_1587-1)_(1845+1_1846-1)dup	Gain (Exons 11-12)	LDLR	18	Copy Number Gain	Duplication	Pathogenic	17094996, 19538517, 19797716, Show More >>	Exons 11-12, Introns 10-12	Xanthomas, Xanthomas, valvular heart disease	Unknown
LDLR_2661	c.(67+1_68-1)_(1186+1_1187-1)dup	Gain (Exons 2-8)	LDLR	3	Copy Number Gain	Duplication	Pathogenic	30270055, 32897268, 3815525	Exons 2-8, Introns 1-8	Corneal arcus, xanthomas	Unknown
LDLR_2662	c.(?_-86)_(940+1_941-1)dup	Gain (Exons 1-6)	LDLR	89	Copy Number Gain	Duplication	Pathogenic	25461735, 33994402, 35137788	Exons 1-6, Introns 1-6		Unknown
LDLR_2663	c.?	p.Cys248Pro	LDLR	1		Missense	Likely Pathogenic	18503695	Exon 5	Xanthomas	Unknown
LDLR_2664	c.?	p.Thr734Phe	LDLR	1		Missense	Uncertain Significance	29399563	Exon 15		Unknown
LDLR_2665	c.(190+1_191-1)_(1845+1_1846-1)dup	Gain (Exons 3-12)	LDLR	2	Copy Number Gain	Duplication	Pathogenic	20145306	Exons 3-12, Introns 2-12		Unknown
LDLR_2666	c.(190+1_191-1)_(940+1_941-1)dup	Gain (Exons 3-6)	LDLR	42	Copy Number Gain	Duplication	Pathogenic	10978268, 16792510, 19446849, Show More >>	Exons 3-6, Introns 2-6		Unknown
LDLR_2667	c.?	p.His285Gln	LDLR	2		Missense	Uncertain Significance	11851376	Exon 6		Unknown
LDLR_2668	c.?	p.Leu14Pro	LDLR	1		Missense	Uncertain Significance	12052488	Exon 1		Unknown
LDLR_2669	c.?	p.Val578dup	LDLR	1		In-frame duplication	Likely Pathogenic	1301956	Exon 12		Unknown
LDLR_2670	c.?	p.Val800Met	LDLR	1		Missense	Likely Pathogenic	16627557	Exon 17		Unknown
LDLR_2671	c.(1186+1_1187-1)_(2140+1_2141-1)dup	Gain (Exons 9-14)	LDLR	8	Copy Number Gain	Duplication	Pathogenic	10978268, 17094996, 23680767, Show More >>	Exons 9-14, Introns 8-14		Unknown
LDLR_2672	c.(1060+1_1061-1)_(1586+1_1587-1)dup	Gain (Exons 8-10)	LDLR	3	Copy Number Gain	Duplication	Pathogenic	10745045, 31491741	Exons 8-10, Introns 7-10		Unknown
LDLR_2673	c.(940+1_941-1)_(*2504_?)dup	Gain (Exons 7-18)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	10745045	Exons 7-18, Introns 6-17		Unknown
LDLR_2674	c.(190+1_191-1)_(2140+1_2141-1)dup	Gain (Exons 3-14)	LDLR	4	Copy Number Gain	Duplication	Pathogenic	11298777, 11600564, 11668640, Show More >>	Exons 3-14, Introns 2-14		Unknown
LDLR_2675	c.(190+1_191-1)_(694+1_695-1)dup	Gain (Exons 3-4)	LDLR	4	Copy Number Gain	Duplication	Pathogenic	11298777, 11600564, 11668640, Show More >>	Exons 3-4, Introns 2-4		Unknown
LDLR_2676	c.(?_-86)_(1586+1_1587-1)del	Deletion (Exons 1-10)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	16792510	Exons 1-10, Introns 1-10		Unknown
LDLR_2677	c.(67+1_68-1)_(1586+1_1587-1)dup	Gain (Exons 2-10)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	16792510	Exons 2-10, Introns 1-10		Unknown
LDLR_2678	c.(694+1_695-1)_(2140+1_2141-1)del	Deletion (Exons 5-14)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	16792510	Exons 5-14, Introns 4-14		Unknown
LDLR_2679	c.(1186+1_1187-1)_(1845+1_1846-1)dup	Gain (Exons 9-12)	LDLR	5	Copy Number Gain	Duplication	Pathogenic	16792510, 1978682, 21382890, Show More >>	Exons 9-12, Introns 8-12		Unknown
LDLR_2680	c.(1705+1_1706-1)_(*2504_?)del	Deletion (Exons 12-18)	LDLR	6	Copy Number Loss	Deletion	Pathogenic	16250003, 16792510, 23369702	Exons 12-18, Introns 11-17		Unknown
LDLR_2681	c.(2311+1_2312-1)_(2389+1_2390-1)del	Deletion (Exon 16)	LDLR	15	Copy Number Loss	Deletion	Pathogenic	10978268, 16250003, 16792510, Show More >>	Exon 16, Introns 15-16		Unknown
LDLR_2682	c.(313+1_314-1)_(817+1_818-1)dup	Gain (Exons 4-5)	LDLR	3	Copy Number Gain	Duplication	Pathogenic	30312929	Exons 4-5, Introns 3-5		Unknown
LDLR_2683	c.(?_-86)_(1845+1_1846-1)del	Deletion (Exons 1-12)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	16343504, 25962062, 33168860, Show More >>	Exons 1-12, Introns 1-12		Unknown
LDLR_2684	c.(67+1_68-1)_(2140+1_2141-1)del	Deletion (Exons 2-14)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	20809525, 28964736	Exons 2-14, Introns 1-14		Unknown
LDLR_2685	c.(190+1_191-1)_(2547+1_2548-1)del	Deletion (Exons 3-17)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	28964736	Exons 3-17, Introns 2-17		Unknown
LDLR_2686	c.(190+1_191-1)_(694+1_695-1)del	Deletion (Exons 3-4)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	20809525, 28964736	Exons 3-4, Introns 2-4		Unknown
LDLR_2687	c.(1060+1_1061-1)_(1586+1_1587-1)del	Deletion (Exons 8-10)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	11313767, 28475941, 28964736	Exons 8-10, Introns 7-10		Unknown
LDLR_2688	c.(1845+1_1846-1)_(2140+1_2141-1)dup	Gain (Exons 13-14)	LDLR	8	Copy Number Gain	Duplication	Pathogenic	20006333, 20809525, 21146822, Show More >>	Exons 13-14, Introns 12-14		Unknown
LDLR_2689	c.(1845+1_1846-1)_(2311+1_2312-1)dup	Gain (Exons 13-15)	LDLR	9	Copy Number Gain	Duplication	Pathogenic	10978268, 26020417, 33807407	Exons 13-15, Introns 12-15		Unknown
LDLR_2690	c.(190+1_191-1)_(2311+1_2312-1)dup	Gain (Exons 3-15)	LDLR	2	Copy Number Gain	Duplication	Pathogenic	28965616, 33890476	Exons 3-15, Introns 2-15		Unknown
LDLR_2691	c.1186+568_1586+1067del	Deletion (Exons 9-10)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	33418990	Exons 9-10, Introns 8-10		Unknown
LDLR_2692	c.2141-799_2311+689del	Deletion (Exon 15)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	33418990	Exon 15, Introns 14-15		Unknown
LDLR_2693	c.2312-2107_2547+620del	Deletion (Exons 16-17)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	33418990	Exons 16-17, Introns 15-17		Unknown
LDLR_2694	c.68-366_2312-791del	Deletion (Exons 2-15)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	33418990	Exons 2-15, Introns 1-15		Unknown
LDLR_2695	c.(67+1_68-1)_(2311+1_2312-1)del	Deletion (Exons 2-15)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	29353225	Exons 2-15, Introns 1-15		Unknown
LDLR_2696	c.(940+1_941-1)_(1845+1_1846-1)dup	Gain (Exons 7-12)	LDLR	11	Copy Number Gain	Duplication	Pathogenic	20538126, 21376320, 22353362, Show More >>	Exons 7-12, Introns 6-12		Unknown
LDLR_2697	c.(313+1_314-1)_(1186+1_1187-1)del	Deletion (Exons 4-8)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	2837085	Exons 4-8, Introns 3-8		Unknown
LDLR_2698	c.(1845+1_1846-1)_(2547+1_2548-1)dup	Gain (Exons 13-17)	LDLR	29	Copy Number Gain	Duplication	Pathogenic	28008010	Exons 13-17, Introns 12-17		Unknown
LDLR_2699	c.(67+1_68-1)_(1586+1_1587-1)del	Deletion (Exons 2-10)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	20809525, 28379029, 34834584	Exons 2-10, Introns 1-10		Unknown
LDLR_2700	c.705_791del	p.Cys236_Met264del	LDLR	2	Deletion	In-frame deletion	Likely Pathogenic	8004803	Exon 5		Unknown
LDLR_2701	c.(190+1_191-1)_(817+1_818-1)del	Deletion (Exons 3-5)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	12837857, 22353362	Exons 3-5, Introns 2-5		Unknown
LDLR_2702	c.(1186+1_1187-1)_(1358+1_1359-1)del	Deletion (Exon 9)	LDLR	12	Copy Number Loss	Deletion	Pathogenic	20538126, 21376320, 22353362	Exon 9, Introns 8-9		Unknown
LDLR_2703	c.(817+1_818-1)_(*2504_?)del	Deletion (Exons 6-18)	LDLR	13	Copy Number Loss	Deletion	Pathogenic	20538126, 21376320, 22353362, Show More >>	Exons 6-18, Introns 5-17		Unknown
LDLR_2704	c.(?_-86)_(1845+1_1846-1)dup	Gain (Exons 1-12)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	28379029	Exons 1-12, Introns 1-12		Unknown
LDLR_2705	c.(190+1_191-1)_(*2504_?)del	Deletion (Exons 3-18)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	28475941	Exons 3-18, Introns 2-17		Unknown
LDLR_2706	c.(1358+1_1359-1)_(1586+1_1587-1)del	Deletion (Exon 10)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	28475941	Exon 10, Introns 9-10		Unknown
LDLR_2707	c.(67+1_68-1)_(*2504_?)del	Deletion (Exons 2-18)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	17094996, 19797716, 23680767	Exons 2-18, Introns 1-17		Unknown
LDLR_2708	c.(2311+1_2312-1)_(*2504_?)dup	Gain (Exons 16-18)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	26802169	Exons 16-18, Introns 15-17		Unknown
LDLR_2709	c.(694+1_695-1)_(1186+1_1187-1)del	Deletion (Exons 5-8)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	26802169	Exons 5-8, Introns 4-8		Unknown
LDLR_2710	c.(940+1_941-1)_(*2504_?)del	Deletion (Exons 7-18)	LDLR	5	Copy Number Loss	Deletion	Pathogenic	11313767, 20006333, 21146822, Show More >>	Exons 7-18, Introns 6-17		Unknown
LDLR_2711	c.(2311+1_2312-1)_(2389+1_2390-1)dup	Gain (Exon 16)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	31491741	Exon 16, Introns 15-16		Unknown
LDLR_2712	c.(2389+1_2390-1)_(2547+1_2548-1)dup	Gain (Exon 17)	LDLR	2	Copy Number Gain	Duplication	Pathogenic	31491741, 33533259	Exon 17, Introns 16-17		Unknown
LDLR_2713	c.1988-50_2007del	Partial Deletion (Exon 14)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	32770674	Exon 14, Intron 13		Unknown
LDLR_2714	c.[(190+1_191-1)_(817+1_818-1)del;(1060+1_1061-1)_(2547+1_2548-1)dup]	Complex rearrangement	LDLR	1	Complex rearrangement	Complex rearrangement	Pathogenic	11313767	Unknown		Unknown
LDLR_2715	c.(940+1_941-1)_(1586+1_1587-1)del	Deletion (Exons 7-10)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	1372927, 22698793, 25461735	Exons 7-10, Introns 6-10		Unknown
LDLR_2716	c.(1845+1_1846-1)_(2389+1_2390-1)del	Deletion (Exons 13-16)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	1372927	Exons 13-16, Introns 12-16		Unknown
LDLR_2717	c.(1060+1_1061-1)_(2140+1_2141-1)del	Deletion (Exons 8-14)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	12417285, 2324680	Exons 8-14, Introns 7-14		Unknown
LDLR_2718	c.(2312_2389)_(2389+1_2390-1)del	Partial Deletion (Exon 16)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	1978682	Exon 16, Intron 16		Unknown
LDLR_2719	c.(-86_*2504)delN[5000]	p.?	LDLR	11	Deletion	Unknown	Pathogenic	34774719, 8401534	Unknown		Unknown
LDLR_2720	c.(-86_*2504)delN[9600]	p.?	LDLR	10	Deletion	Unknown	Pathogenic	1362925	Unknown		Unknown
LDLR_2721	c.(190+1_191-1)_(1586+1_1587-1)del	Deletion (Exons 3-10)	LDLR	13	Copy Number Loss	Deletion	Pathogenic	10978268, 19446849, 7749819	Exons 3-10, Introns 2-10		Unknown
LDLR_2722	c.1891_2311+1062del	Partial deletion (Exons 13-15)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	10978268	Exons 13-15, Introns 12-15		Unknown
LDLR_2723	c.(940+1_941-1)_(1186+1_1187-1)dup	Gain (Exons 7-8)	LDLR	2	Copy Number Gain	Duplication	Pathogenic	1319734, 24075752	Exons 7-8, Introns 6-8		Unknown
LDLR_2724	c.(67+1_68-1)_(190+1_191-1)del	Deletion (Exon 2)	LDLR	7	Copy Number Loss	Deletion	Pathogenic	12052488, 15576851, 15936313, Show More >>	Exon 2, Introns 1-2		Unknown
LDLR_2725	c.(-86_*2504)delN[500]	p.?	LDLR	1	Deletion	Unknown	Pathogenic	12052488	Unknown		Unknown
LDLR_2726	c.(1586+1_1587-1)_(2311+1_2312-1)del	Deletion (Exons 11-15)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	15199436	Exons 11-15, Introns 10-15		Unknown
LDLR_2727	c.(818_1358)delN[1000]	Deletion (Exons 6-9)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	9654205	Exons 6-9, Introns 5-9		Unknown
LDLR_2728	c.(?_-86)_(1060+1_1061-1)del	Deletion (Exons 1-7)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	20809525	Exons 1-7, Introns 1-7		Unknown
LDLR_2729	c.(67+1_68-1)_(817+1_818-1)dup	Gain (Exons 2-5)	LDLR	6	Copy Number Gain	Duplication	Pathogenic	20809525, 27678436, 27824480	Exons 2-5, Introns 1-5		Unknown
LDLR_2730	c.(67+1_68-1)_(1705+1_1706-1)del	Deletion (Exons 2-11)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	20809525	Exons 2-11, Introns 1-11		Unknown
LDLR_2731	c.(67+1_68-1)_(2547+1_2548-1)del	Deletion (Exons 2-17)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	20809525	Exons 2-17, Introns 1-17		Unknown
LDLR_2732	c.(313+1_314-1)_(940+1_941-1)dup	Gain (Exons 4-6)	LDLR	4	Copy Number Gain	Duplication	Pathogenic	20809525	Exons 4-6, Introns 3-6		Unknown
LDLR_2733	c.(694+1_695-1)_(1586+1_1587-1)del	Deletion (Exons 5-10)	LDLR	7	Copy Number Loss	Deletion	Pathogenic	20809525, 26892515	Exons 5-10, Introns 4-10		Unknown
LDLR_2734	c.(1186+1_1187-1)_(*2504_?)del	Deletion (Exons 9-18)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	20809525	Exons 9-18, Introns 8-17		Unknown
LDLR_2735	c.(1705+1_1706-1)_(2389+1_2390-1)del	Deletion (Exons 12-16)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	20809525	Exons 12-16, Introns 11-16		Unknown
LDLR_2736	c.(?_-86)_(694+1_695-1)del	Deletion (Exons 1-4)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	27765764	Exons 1-4, Introns 1-4		Unknown
LDLR_2737	c.(940+1_941-1)_(1060+1_1061-1)dup	Gain (Exon 7)	LDLR	3	Copy Number Gain	Duplication	Pathogenic	21955034, 27765764, 32041611	Exon 7, Introns 6-7		Unknown
LDLR_2738	c.(1060+1_1061-1)_(1987+1_1988-1)del	Deletion (Exons 8-13)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	25461735	Exons 8-13, Introns 7-13		Unknown
LDLR_2739	c.(1586+1_1587-1)_(2547+1_2548-1)del	Deletion (Exons 11-17)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	22698793	Exons 11-17, Introns 10-17		Unknown
LDLR_2740	c.(67+1_68-1)_(2311+1_2312-1)dup	Gain (Exons 2-15)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	22698793	Exons 2-15, Introns 1-15		Unknown
LDLR_2741	c.(?_-86)_(1186+1_1187-1)del	Deletion (Exons 1-8)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	16250003, 16466730, 21382890	Exons 1-8, Introns 1-8		Unknown
LDLR_2742	c.(191_940)insN[8500]	p.?	LDLR	1	Insertion	Unknown	Pathogenic	16250003	Unknown		Unknown
LDLR_2743	c.(1060+1_1061-1)_(1186+1_1187-1)del	Deletion (Exon 8)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	16250003	Exon 8, Introns 7-8		Unknown
LDLR_2744	c.(1187_1358)insN[1000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	16250003	Unknown		Unknown
LDLR_2745	c.(2390_2547)insN[?]	p.?	LDLR	1	Insertion	Unknown	Pathogenic	20006333, 21146822, 25014035, Show More >>	Unknown		Unknown
LDLR_2746	c.(1060+1_1061-1)_(1358+1_1359-1)del	Deletion (Exons 8-9)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	20006333, 21146822, 25014035, Show More >>	Exons 8-9, Introns 7-9		Unknown
LDLR_2747	c.(313+1_314-1)_(2140+1_2141-1)del	Deletion (Exons 4-14)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	15576851	Exons 4-14, Introns 3-14		Unknown
LDLR_2748	c.(1987+1_1988-1)_(2547+1_2548-1)dup	Gain (Exons 14-17)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	27596133	Exons 14-17, Introns 13-17		Unknown
LDLR_2749	c.(67+1_68-1)_(1186+1_1187-1)del	Deletion (Exons 2-8)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	32759540	Exons 2-8, Introns 1-8		Unknown
LDLR_2750	c.(1845+1_1846-1)_(2547+1_2548-1)del	Deletion (Exons 13-17)	LDLR	3	Copy Number Loss	Deletion	Pathogenic	16542394, 21957200	Exons 13-17, Introns 12-17		Unknown
LDLR_2751	c.(67+1_68-1)_(190+1_191-1)dup	Gain (Exon 2)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	28965616	Exon 2, Introns 1-2		Unknown
LDLR_2752	c.(190+1_191-1)_(1186+1_1187-1)del	Deletion (Exons 3-8)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	35052492	Exons 3-8, Introns 2-8		Unknown
LDLR_2753	c.(?_-86)_(67+1_68-1)dup	Gain (Exon 1)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	26892515	Exon 1, Intron 1		Unknown
LDLR_2754	c.(817+1_818-1)_(1705+1_1706-1)del	Deletion (Exons 6-11)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	16542394	Exons 6-11, Introns 5-11		Unknown
LDLR_2755	c.(?_-86)_(2140+1_2141-1)del	Deletion (Exons 1-14)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	21382890	Exons 1-14, Introns 1-14		Unknown
LDLR_2756	c.(190+1_191-1)_(1186+1_1187-1)dup	Gain (Exons 3-8)	LDLR	5	Copy Number Gain	Duplication	Pathogenic	21382890	Exons 3-8, Introns 2-8		Unknown
LDLR_2757	c.67+3968_940+296dup	Gain (Exons 2-6)	LDLR	9	Copy Number Gain	Duplication	Pathogenic	20663204	Exons 2-6, Introns 1-6		Unknown
LDLR_2758	c.190+984_1846-1160del	Deletion (Exons 3-12)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	20663204	Exons 3-12, Introns 2-12		Unknown
LDLR_2759	c.314-446_1187-386dup	Gain (Exons 4-8)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	20663204	Exons 4-8, Introns 3-8		Unknown
LDLR_2760	c.695-67_1586+371del	Deletion (Exons 5-10)	LDLR	4	Copy Number Loss	Deletion	Pathogenic	20663204	Exons 5-10, Introns 4-10		Unknown
LDLR_2761	c.1186+700_2141-545del	Deletion (Exons 9-14)	LDLR	10	Copy Number Loss	Deletion	Pathogenic	20663204	Exons 9-14, Introns 8-14		Unknown
LDLR_2762	c.1187-169_2312-790del	Deletion (Exons 9-15)	LDLR	8	Copy Number Loss	Deletion	Pathogenic	20663204	Exons 9-15, Introns 8-15		Unknown
LDLR_2763	c.2311+1941_*1216dup	Gain (Exons 16-18)	LDLR	3	Copy Number Gain	Duplication	Pathogenic	20663204	Exons 16-18, Introns 15-17		Unknown
LDLR_2764	c.(2547+1_2548-1)_(*2504_?)del	Deletion (Exon 18)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	32041611	Exon 18, Introns 17-18		Unknown
LDLR_2765	c.(?_-86)_(313+1_314-1)del	Deletion (Exons 1-3)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	33955087	Exons 1-3, Introns 1-3		Unknown
LDLR_2766	c.68-2378_c.940+684del	Deletion (Exons 2-6)	LDLR	2	Copy Number Loss	Deletion	Pathogenic	24075752	Exons 2-6, Introns 1-6		Unknown
LDLR_2767	c.68-10171_c.940+970del	Deletion (Exons 2-6)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exons 2-6, Introns 1-6		Unknown
LDLR_2768	c.314-1779_c.565del	Partial Deletion (Exon 4)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exon 4, Intron 3		Unknown
LDLR_2769	c.695-371_c.817+410del	Deletion (Exon 5)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exon 5, Introns 4-5		Unknown
LDLR_2770	c.1587-331_c.1845+1888del	Deletion (Exons 11-12)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exons 11-12, Introns 10-12		Unknown
LDLR_2771	c.1587-1610_c.1870del	Partial deletion (Exons 11-13)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exons 11-13, Introns 11-13		Unknown
LDLR_2772	c.1846-2179_c.2140+2154del	Deletion (Exons 13-14)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exons 13-14, Introns 12-14		Unknown
LDLR_2773	c.2141-1460_c.2311+3839del	Deletion (Exon 15)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exon 15, Introns 14-15		Unknown
LDLR_2774	c.2141-2387_c.2583+276del	Deletion (Exons 15-18)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exons 15-18, Introns 14-17		Unknown
LDLR_2775	c.2390-509_c.2547+820del	Deletion (Exon 17)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exon 17, Introns 16-17		Unknown
LDLR_2776	c.(1186+1_1187-1)_(1586+1_1587-1)dup	Gain (Exons 9-10)	LDLR	5	Copy Number Gain	Duplication	Pathogenic	15936313	Exons 9-10, Introns 8-10		Unknown
LDLR_2777	c.(940+1_941-1)_(1586+1_1587-1)dup	Gain (Exons 7-10)	LDLR	3	Copy Number Gain	Duplication	Pathogenic	15936313	Exons 7-10, Introns 6-10		Unknown
LDLR_2778	c.(1061-1_1358+1)insN[10000]	Intronic	LDLR	8	Insertion	Unknown	Pathogenic	16466730	Unknown		Unknown
LDLR_2779	c.(1706-1_1987+1)insN[4400]	Intronic	LDLR	2	Insertion	Unknown	Pathogenic	16466730	Unknown		Unknown
LDLR_2780	c.(1272_1273)insN[96]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11754108	Unknown		Unknown
LDLR_2781	c.[(?_-86)_(190+1_191-1)del;(1060+1_1061-1)_(1845+1_1846-1)del]	Complex rearrangement	LDLR	1	Complex rearrangement	Complex rearrangement	Pathogenic	17765246	Unknown		Unknown
LDLR_2782	c.(190+1_191-1)_(2311+1_2312-1)del	Deletion (Exons 3-15)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	16343504	Exons 3-15, Introns 2-15		Unknown
LDLR_2783	c.1060+7T>C	Intronic	LDLR	1		Intronic	Benign	30270082	Intron 7		Unknown
LDLR_2784	c.?	p.Cys128fs	LDLR	1		Frameshift	Pathogenic	1301956	Exon 4		Unknown
LDLR_2785	c.?	p.Gln851fs	LDLR	1		Frameshift	Pathogenic	9654205	Exon 18		Unknown
LDLR_2786	c.?	p.Glu626fs	LDLR	1		Frameshift	Pathogenic	16542394	Exon 13		Unknown
LDLR_2787	c.?	p.Ile398fs	LDLR	1		Frameshift	Pathogenic	34182004	Exon 9		Unknown
LDLR_2788	c.?	p.Leu855fs	LDLR	1		Frameshift	Pathogenic	29693183	Exon 18		Unknown
LDLR_2789	c.?	p.Pro162fs	LDLR	1		Frameshift	Pathogenic	7557960	Exon 4		Unknown
LDLR_2790	c.?	p.Pro753fs	LDLR	1		Frameshift	Pathogenic	28379029	Exon 15		Unknown
LDLR_2791	c.?	p.Ser195fs	LDLR	1		Frameshift	Pathogenic	15556094	Exon 4		Unknown
LDLR_2792	c.?	p.Ser70fs	LDLR	1		Frameshift	Likely Pathogenic	25487149	Exon 3		Unknown
LDLR_2793	c.?	p.Ser791fs	LDLR	1		Frameshift	Pathogenic	24529145	Exon 16		Unknown
LDLR_2794	c.?	p.Val827fs	LDLR	1		Frameshift	Pathogenic	11810272	Exon 17		Unknown
LDLR_2795	c.?	p.Asp221del	LDLR	1		In-frame deletion	Uncertain Significance	9016531	Exon 4		Unknown
LDLR_2796	c.?	p.Gly676del	LDLR	1		In-frame deletion	Uncertain Significance	26688439	Exon 14		Unknown
LDLR_2797	c.?	p.Met264del	LDLR	1		In-frame deletion	Likely Pathogenic	18279815	Exon 5		Unknown
LDLR_2798	c.?	p.Tyr553del	LDLR	1		In-frame deletion	Uncertain Significance	23369702	Exon 11		Unknown
LDLR_2799	c.?	p.Val523del	LDLR	1		In-frame deletion	Uncertain Significance	8882879	Exon 10		Unknown
LDLR_2800	c.?	p.Gly24dup	LDLR	1		In-frame duplication	Uncertain Significance	28965616	Exon 2		Unknown
LDLR_2801	c.?	p.Cys128ins	LDLR	1		Insertion	Uncertain Significance	15199436	Exon 4		Unknown
LDLR_2802	c.?	p.Ile355ins	LDLR	1		Insertion	Uncertain Significance	23375686	Exon 8		Unknown
LDLR_2803	c.?	p.Pro220ins	LDLR	1		Insertion	Uncertain Significance	30445150	Exon 4		Unknown
LDLR_2804	c.?	p.Asn841*	LDLR	1		Nonsense	Likely Pathogenic	22079632	Exon 17		Unknown
LDLR_2805	c.?	p.Asp221*	LDLR	1		Nonsense	Pathogenic	15359125	Exon 4		Unknown
LDLR_2806	c.?	p.Gly24*	LDLR	1		Nonsense	Likely Pathogenic	1757095	Exon 2		Unknown
LDLR_2807	c.?	p.Gly844*	LDLR	1		Nonsense	Likely Pathogenic	17581630	Exon 17		Unknown
LDLR_2808	c.?	p.Ile838*	LDLR	1		Nonsense	Likely Pathogenic	17581630	Exon 17		Unknown
LDLR_2809	c.?	p.Gln254delins	LDLR	1		Protein altering	Likely Pathogenic	15823276	Exon 5		Unknown
LDLR_2810	c.?	p.Ile355delins	LDLR	1		Protein altering	Likely Pathogenic	19446849	Exon 8		Unknown
LDLR_2811	c.?	p.Trp4delins	LDLR	1		Protein altering	Uncertain Significance	34650182	Exon 1		Unknown
LDLR_2812	c.?	p.Ala789Arg	LDLR	1		Missense	Uncertain Significance	28334946	Exon 16		Unknown
LDLR_2813	c.?	p.Arg410Ala	LDLR	1		Missense	Uncertain Significance	27998977	Exon 9		Unknown
LDLR_2814	c.?	p.Arg410Glu	LDLR	1		Missense	Likely Pathogenic	27998977	Exon 9		Unknown
LDLR_2815	c.?	p.Asn156Gln	LDLR	1		Missense	Uncertain Significance	32601215	Exon 4		Unknown
LDLR_2816	c.?	p.Asn230Ala	LDLR	1		Missense	Uncertain Significance	17044057	Exon 4		Unknown
LDLR_2817	c.?	p.Asn272Gln	LDLR	1		Missense	Uncertain Significance	32601215	Exon 5		Unknown
LDLR_2818	c.?	p.Asn316Ala	LDLR	1		Missense	Likely Pathogenic	18250299	Exon 7		Unknown
LDLR_2819	c.?	p.Asn330Ala	LDLR	1		Missense	Uncertain Significance	25023731	Exon 7		Unknown
LDLR_2820	c.?	p.Asn515Gln	LDLR	1		Missense	Uncertain Significance	24249837	Exon 10		Unknown
LDLR_2821	c.?	p.Asn564Arg	LDLR	1		Missense	Uncertain Significance	28502495	Exon 11		Unknown
LDLR_2822	c.?	p.Asn645Val	LDLR	1		Missense	Uncertain Significance	36093157	Exon 13		Unknown
LDLR_2823	c.?	p.Asn657Gln	LDLR	1		Missense	Uncertain Significance	32601215	Exon 13		Unknown
LDLR_2824	c.?	p.Asn812Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2825	c.?	p.Asn817Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2826	c.?	p.Asn822Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2827	c.?	p.Asn825Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2828	c.?	p.Asp100Ile	LDLR	1		Missense	Uncertain Significance	2600087	Exon 3		Unknown
LDLR_2829	c.?	p.Asp139Ile	LDLR	1		Missense	Likely Pathogenic	2600087	Exon 4		Unknown
LDLR_2830	c.?	p.Asp178Ile	LDLR	1		Missense	Likely Pathogenic	2600087	Exon 4		Unknown
LDLR_2831	c.?	p.Asp193Glu	LDLR	1		Missense	Likely Pathogenic	31332430	Exon 4		Unknown
LDLR_2832	c.?	p.Asp193Lys	LDLR	1		Missense	Likely Pathogenic	30617148	Exon 4		Unknown
LDLR_2833	c.?	p.Asp193Ser	LDLR	1		Missense	Uncertain Significance	31332430	Exon 4		Unknown
LDLR_2834	c.?	p.Asp193Thr	LDLR	1		Missense	Likely Pathogenic	30617148	Exon 4		Unknown
LDLR_2835	c.?	p.Asp224Gln	LDLR	1		Missense	Likely Pathogenic	30617148	Exon 4		Unknown
LDLR_2836	c.?	p.Asp224Lys	LDLR	1		Missense	Uncertain Significance	18677035	Exon 4		Unknown
LDLR_2837	c.?	p.Asp266Ile	LDLR	1		Missense	Uncertain Significance	2600087	Exon 5		Unknown
LDLR_2838	c.?	p.Asp307Ile	LDLR	1		Missense	Likely Pathogenic	2600087	Exon 6		Unknown
LDLR_2839	c.?	p.Asp331Glu	LDLR	1		Missense	Likely Pathogenic	27280970	Exon 7		Unknown
LDLR_2840	c.?	p.Cys155Ala	LDLR	1		Missense	Uncertain Significance	23125360	Exon 4		Unknown
LDLR_2841	c.?	p.Cys27Ala	LDLR	1		Missense	Uncertain Significance	3417658	Exon 2		Unknown
LDLR_2842	c.?	p.Cys318Ala	LDLR	1		Missense	Likely Pathogenic	24440079	Exon 7		Unknown
LDLR_2843	c.?	p.Cys325Ala	LDLR	1		Missense	Uncertain Significance	24440079	Exon 7		Unknown
LDLR_2844	c.?	p.Cys329Ala	LDLR	1		Missense	Uncertain Significance	24440079	Exon 7		Unknown
LDLR_2845	c.?	p.Cys338Ala	LDLR	1		Missense	Likely Pathogenic	24440079	Exon 7		Unknown
LDLR_2846	c.?	p.Cys340Ala	LDLR	1		Missense	Uncertain Significance	24440079	Exon 7		Unknown
LDLR_2847	c.?	p.Cys352Ala	LDLR	1		Missense	Uncertain Significance	24440079	Exon 7		Unknown
LDLR_2848	c.?	p.Cys352Thr	LDLR	1		Missense	Uncertain Significance	25014035	Exon 7		Unknown
LDLR_2849	c.?	p.Cys39Ala	LDLR	1		Missense	Uncertain Significance	3417658	Exon 2		Unknown
LDLR_2850	c.?	p.Cys839Ala	LDLR	1		Missense	Uncertain Significance	26980316	Exon 17		Unknown
LDLR_2851	c.?	p.Cys839Ser	LDLR	1		Missense	Uncertain Significance	22764087	Exon 17		Unknown
LDLR_2852	c.?	p.Gln60Cys	LDLR	1		Missense	Uncertain Significance	7603991	Exon 2		Unknown
LDLR_2853	c.?	p.Gln829Cys	LDLR	1		Missense	Uncertain Significance	3104336	Exon 17		Unknown
LDLR_2854	c.?	p.Glu277Tyr	LDLR	1		Missense	Uncertain Significance	39114568	Exon 6		Unknown
LDLR_2855	c.?	p.Glu317Asp	LDLR	1		Missense	Uncertain Significance	17452316	Exon 7		Unknown
LDLR_2856	c.?	p.Glu31Ser	LDLR	1		Missense	Uncertain Significance	7603991	Exon 2		Unknown
LDLR_2857	c.?	p.Gly314His	LDLR	1		Missense	Uncertain Significance	24103783	Exon 6		Unknown
LDLR_2858	c.?	p.Gly529Glu	LDLR	1		Missense	Uncertain Significance	28087566	Exon 10		Unknown
LDLR_2859	c.?	p.Gly549Gly	LDLR	1		Missense	Uncertain Significance	19062533	Exon 11		Unknown
LDLR_2860	c.?	p.Gly592Asp	LDLR	1		Missense	Uncertain Significance	27998977	Exon 12		Unknown
LDLR_2861	c.?	p.Gly805Leu	LDLR	1		Missense	Uncertain Significance	24918045	Exon 17		Unknown
LDLR_2862	c.?	p.His211Ala	LDLR	1		Missense	Uncertain Significance	18847225	Exon 4		Unknown
LDLR_2863	c.?	p.His211Lys	LDLR	1		Missense	Likely Pathogenic	18847225	Exon 4		Unknown
LDLR_2864	c.?	p.His285Lys	LDLR	1		Missense	Uncertain Significance	27895090	Exon 6		Unknown
LDLR_2865	c.?	p.His327Gly	LDLR	1		Missense	Uncertain Significance	25023731	Exon 7		Unknown
LDLR_2866	c.?	p.His327Lys	LDLR	1		Missense	Uncertain Significance	27895090	Exon 7		Unknown
LDLR_2867	c.?	p.His388Ala	LDLR	1		Missense	Uncertain Significance	27895090	Exon 8		Unknown
LDLR_2868	c.?	p.His388Lys	LDLR	1		Missense	Uncertain Significance	27895090	Exon 8		Unknown
LDLR_2869	c.?	p.His460Ala	LDLR	1		Missense	Uncertain Significance	27895090	Exon 10		Unknown
LDLR_2870	c.?	p.His460Lys	LDLR	1		Missense	Uncertain Significance	27895090	Exon 10		Unknown
LDLR_2871	c.?	p.His583Ala	LDLR	1		Missense	Uncertain Significance	18847225	Exon 12		Unknown
LDLR_2872	c.?	p.His583Lys	LDLR	1		Missense	Uncertain Significance	18847225	Exon 12		Unknown
LDLR_2873	c.?	p.His607Ala	LDLR	1		Missense	Uncertain Significance	18847225	Exon 12		Unknown
LDLR_2874	c.?	p.His607Lys	LDLR	1		Missense	Uncertain Significance	18847225	Exon 12		Unknown
LDLR_2875	c.?	p.His656Ala	LDLR	1		Missense	Uncertain Significance	27895090	Exon 13		Unknown
LDLR_2876	c.?	p.His656Lys	LDLR	1		Missense	Uncertain Significance	27895090	Exon 13		Unknown
LDLR_2877	c.?	p.Ile122Asp	LDLR	1		Missense	Likely Pathogenic	2600087	Exon 4		Unknown
LDLR_2878	c.?	p.Ile161Asp	LDLR	1		Missense	Likely Pathogenic	31332430	Exon 4		Unknown
LDLR_2879	c.?	p.Ile210Asp	LDLR	1		Missense	Likely Pathogenic	2600087	Exon 4		Unknown
LDLR_2880	c.?	p.Ile249Asp	LDLR	1		Missense	Uncertain Significance	2600087	Exon 5		Unknown
LDLR_2881	c.?	p.Ile290Asp	LDLR	1		Missense	Likely Pathogenic	2600087	Exon 6		Unknown
LDLR_2882	c.?	p.Ile355Ile	LDLR	1		Missense	Uncertain Significance	15998910	Exon 8		Unknown
LDLR_2883	c.?	p.Ile40Asp	LDLR	1		Missense	Uncertain Significance	2600087	Exon 2		Unknown
LDLR_2884	c.?	p.Ile566Ala	LDLR	1		Missense	Uncertain Significance	36093157	Exon 11		Unknown
LDLR_2885	c.?	p.Ile792Arg	LDLR	1		Missense	Likely Pathogenic	28334946	Exon 16		Unknown
LDLR_2886	c.?	p.Ile796Arg	LDLR	1		Missense	Uncertain Significance	28334946	Exon 16		Unknown
LDLR_2887	c.?	p.Ile821Glu	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2888	c.?	p.Ile83Asp	LDLR	1		Missense	Uncertain Significance	2600087	Exon 3		Unknown
LDLR_2889	c.?	p.Leu332Thr	LDLR	1		Missense	Uncertain Significance	25023731	Exon 7		Unknown
LDLR_2890	c.?	p.Leu339Ala	LDLR	1		Missense	Uncertain Significance	19224862	Exon 7		Unknown
LDLR_2891	c.?	p.Leu339Asp	LDLR	1		Missense	Uncertain Significance	25170090	Exon 7		Unknown
LDLR_2892	c.?	p.Leu339His	LDLR	1		Missense	Uncertain Significance	32705598	Exon 7		Unknown
LDLR_2893	c.?	p.Leu346Ala	LDLR	1		Missense	Uncertain Significance	17452316	Exon 7		Unknown
LDLR_2894	c.?	p.Leu414Lys	LDLR	1		Missense	Uncertain Significance	27562454	Exon 9		Unknown
LDLR_2895	c.?	p.Leu647Ala	LDLR	1		Missense	Uncertain Significance	22081141	Exon 13		Unknown
LDLR_2896	c.?	p.Leu647Glu	LDLR	1		Missense	Uncertain Significance	22081141	Exon 13		Unknown
LDLR_2897	c.?	p.Leu799Ala	LDLR	1		Missense	Uncertain Significance	26220972	Exon 17		Unknown
LDLR_2898	c.?	p.Leu804Asp	LDLR	1		Missense	Uncertain Significance	10064698	Exon 17		Unknown
LDLR_2899	c.?	p.Leu855Ile	LDLR	1		Missense	Uncertain Significance	16502360	Exon 18		Unknown
LDLR_2900	c.?	p.Lys223Leu	LDLR	1		Missense	Uncertain Significance	20030366	Exon 4		Unknown
LDLR_2901	c.?	p.Lys581Met	LDLR	1		Missense	Uncertain Significance	24103783	Exon 12		Unknown
LDLR_2902	c.?	p.Lys581Trp	LDLR	1		Missense	Likely Pathogenic	19674976	Exon 12		Unknown
LDLR_2903	c.?	p.Lys603Trp	LDLR	1		Missense	Likely Pathogenic	19674976	Exon 12		Unknown
LDLR_2904	c.?	p.Lys816Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2905	c.?	p.Met264Leu	LDLR	1		Missense	Uncertain Significance	14675545	Exon 5		Unknown
LDLR_2906	c.?	p.Phe153Pro	LDLR	1		Missense	Uncertain Significance	38658794	Exon 4		Unknown
LDLR_2907	c.?	p.Phe202Gly	LDLR	1		Missense	Uncertain Significance	3417658	Exon 4		Unknown
LDLR_2908	c.?	p.Phe383Ala	LDLR	1		Missense	Uncertain Significance	19674976	Exon 8		Unknown
LDLR_2909	c.?	p.Phe801Arg	LDLR	1		Missense	Likely Pathogenic	28334946	Exon 17		Unknown
LDLR_2910	c.?	p.Phe801Asp	LDLR	1		Missense	Uncertain Significance	10064698	Exon 17		Unknown
LDLR_2911	c.?	p.Phe807Arg	LDLR	1		Missense	Uncertain Significance	28334946	Exon 17		Unknown
LDLR_2912	c.?	p.Phe823Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2913	c.?	p.Ser56Ser	LDLR	1		Missense	Uncertain Significance	7603991	Exon 2		Unknown
LDLR_2914	c.?	p.Ser791Arg	LDLR	1		Missense	Uncertain Significance	28334946	Exon 16		Unknown
LDLR_2915	c.?	p.Ser791Leu	LDLR	1		Missense	Uncertain Significance	24918045	Exon 16		Unknown
LDLR_2916	c.?	p.Ser820Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2917	c.?	p.Ser820Asp	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2918	c.?	p.Thr467Tyr	LDLR	1		Missense	Uncertain Significance	26927322	Exon 10		Unknown
LDLR_2919	c.?	p.Thr721Ser	LDLR	1		Missense	Uncertain Significance	1899178	Exon 15		Unknown
LDLR_2920	c.?	p.Trp165Ala	LDLR	1		Missense	Likely Pathogenic	19674976	Exon 4		Unknown
LDLR_2921	c.?	p.Trp214Ala	LDLR	1		Missense	Likely Pathogenic	19674976	Exon 4		Unknown
LDLR_2922	c.?	p.Trp536Ala	LDLR	1		Missense	Likely Pathogenic	19674976	Exon 11		Unknown
LDLR_2923	c.?	p.Trp562Ala	LDLR	1		Missense	Likely Pathogenic	19674976	Exon 11		Unknown
LDLR_2924	c.?	p.Trp810Arg	LDLR	1		Missense	Uncertain Significance	28334946	Exon 17		Unknown
LDLR_2925	c.?	p.Trp813Ala	LDLR	1		Missense	Uncertain Significance	22109552	Exon 17		Unknown
LDLR_2926	c.?	p.Tyr336Ala	LDLR	1		Missense	Likely Pathogenic	17452316	Exon 7		Unknown
LDLR_2927	c.?	p.Tyr42Val	LDLR	1		Missense	Uncertain Significance	7603991	Exon 2		Unknown
LDLR_2928	c.?	p.Tyr828Ala	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2929	c.?	p.Tyr828Glu	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2930	c.?	p.Tyr828Gly	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2931	c.?	p.Tyr828Leu	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2932	c.?	p.Tyr828Lys	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2933	c.?	p.Tyr828Pro	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2934	c.?	p.Tyr828Thr	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2935	c.?	p.Tyr828Trp	LDLR	1		Missense	Uncertain Significance	3104336	Exon 17		Unknown
LDLR_2936	c.?	p.Tyr845Ala	LDLR	1		Missense	Uncertain Significance	24229647	Exon 17		Unknown
LDLR_2937	c.?	p.Tyr847Ala	LDLR	1		Missense	Uncertain Significance	24229647	Exon 17		Unknown
LDLR_2938	c.?	p.Val793Arg	LDLR	1		Missense	Uncertain Significance	28334946	Exon 16		Unknown
LDLR_2939	c.?	p.Val797Arg	LDLR	1		Missense	Likely Pathogenic	26220972	Exon 16		Unknown
LDLR_2940	c.?	p.Val797Val	LDLR	1		Missense	Likely Benign	31153847	Exon 16		Unknown
LDLR_2941	c.?	p.Val800Arg	LDLR	1		Missense	Likely Pathogenic	26220972	Exon 17		Unknown
LDLR_2942	c.?	p.Val806Arg	LDLR	1		Missense	Likely Pathogenic	28334946	Exon 17		Unknown
LDLR_2943	c.?	p.Val827Cys	LDLR	1		Missense	Uncertain Significance	3104336	Exon 17		Unknown
LDLR_2944	c.?	p.Val827Pro	LDLR	1		Missense	Likely Pathogenic	3104336	Exon 17		Unknown
LDLR_2945	c.(-86_*2504)delN[6000]	p.?	LDLR	1	Deletion	Unknown	Uncertain Significance	20018285	Unknown		Unknown
LDLR_2946	c.(1060+1_1061-1)_(2547+1_2548-1)dup	Gain (Exons 8-17)	LDLR	1	Copy Number Gain	Duplication	Uncertain Significance	10745045	Exons 8-17, Introns 7-17		Unknown
LDLR_2947	c.(1187_1358)insN[2000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2948	c.(1358+1_1359-1)_(1845+1_1846-1)del	Deletion (Exons 10-12)	LDLR	1	Copy Number Loss	Deletion	Uncertain Significance	11137106	Exons 10-12, Introns 9-12		Unknown
LDLR_2949	c.(1359-1_1705+1)insN[4000]	Intronic	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2950	c.(1359-1_1705+1)insN[4400]	Intronic	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2951	c.(1586+1_1587-1)_(2140+1_2141-1)dup	Gain (Exons 11-14)	LDLR	1	Copy Number Gain	Duplication	Uncertain Significance	22881376	Exons 11-14, Introns 10-14		Unknown
LDLR_2952	c.(1586+1_1587-1)_(2389+1_2390-1)del	Deletion (Exons 11-16)	LDLR	1	Copy Number Loss	Deletion	Uncertain Significance	1301956	Exons 11-16, Introns 10-16		Unknown
LDLR_2953	c.(1587_1705)insN[10000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2954	c.(1587_1705)insN[7000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2955	c.(1845+1_1846-1)_(2311+1_2312-1)insN[7000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2956	c.(191_313)insN[14000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2957	c.(191_313)insN[3800]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2958	c.(2141-1_2389+1)insN(5500)	Intronic	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2959	c.(313+1_314-1)_(1060+1_1061-1)dup	Deletion (Exons 4-7)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	39337102	Exons 4-7, Introns 3-7		Unknown
LDLR_2960	c.(313+1_314-1)_(2311+1_2312-1)dup	Gain (Exons 4-15)	LDLR	1	Copy Number Gain	Duplication	Pathogenic	30312929	Exons 4-15, Introns 3-15		Unknown
LDLR_2961	c.(314_694)insN[10000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2962	c.(314_694)insN[8000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2963	c.(695_817)del87	Deletion (Exon 5)	LDLR	1	Copy Number Loss	Deletion	Uncertain Significance	11137106	Exon 5, Introns 4-5		Unknown
LDLR_2964	c.(695_817)insN[17000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2965	c.(941_1060)insN[4000]	p.?	LDLR	1	Insertion	Unknown	Uncertain Significance	11137106	Unknown		Unknown
LDLR_2966	c.1587-1173_1845+2198del	Deletion (Exons 11-12)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	23375686	Exons 11-12, Introns 10-12		Unknown
LDLR_2967	c.1988-52_2006del70	Partial Deletion (Exon 14)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	20145306	Exon 14, Intron 13		Unknown
LDLR_2968	c.313+1148_c.1060+278del	Deletion (Exons 4-7)	LDLR	1	Copy Number Loss	Deletion	Pathogenic	24075752	Exons 4-7, Introns 3-7		Unknown
LDLR_2969	c.695-96_818-151del	Deletion (Exon 5)	LDLR	1	Copy Number Loss	Deletion	Uncertain Significance	10745045	Exon 5, Introns 4-5		Unknown
LDLR_2970	c.817+303_940+943del	Deletion (Exon 6)	LDLR	1	Copy Number Loss	Deletion	Uncertain Significance	33418990	Exon 6, Introns 5-6		Unknown
LDLR_2971	c.940+845_1186+531del	Deletion (Exons 7-8)	LDLR	1	Copy Number Loss	Deletion	Uncertain Significance	22881376	Exons 7-8, Introns 6-8		Unknown

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Variant ID
Variant
Amino Acid Change
Gene Symbol
Times Observed
Variant Type
Effect Type
Functional Prediction
Display Variant Classification
Variant Classification Evidence Codes
Phenotype
PMID
Location
Article Count
Protein Domain
Laboratory Classification Last Revised Date
GRCh38
Record Last Revised Date
Present in ClinVar
Laboratory Classification
Predicted Variant Classification

Table Headers Definitions
HGVS Nomenclature
Laboratory Variant Classification
Explore considerations about Variants of Uncertain Significance (VUS)

Notes:

Click the PMID number to go to the corresponding publication.
All variants are referencing NM_000527.5 and there is no change between these versions with respect to the coding sequence.
Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.
Click the Present in ClinVar link to go to the corresponding ClinVar VariationID.
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Homozygous familial hypercholesterolemia

Introduction

Variant List

Gene Structure

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