PCSK9

Homozygous familial hypercholesterolemia

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Introduction

The PCSK9 gene, which stands for proprotein convertase subtilisin/kexin type 9 is located on chromosome 1p32.3. It has 12 exons (1) spanning 25.3 kb and encodes a 692 (2) amino acid protein.

The PCSK9 gene encodes a member of the subtilisin-like proprotein convertase family. This protein terminates the lifecycle of LDLR by binding to it and targeting it for degradation in the lysosome (3). The PCSK9 protein undergoes autocatalytic processing in the endoplasmic reticulum and is constitutively secreted as an inactive protease in the extracellular matrix (4).

Predominantly expressed in liver, kidney and intestine tissues, a deficiency in this gene product leads to elevated levels of LDL in the plasma which can cause premature atherosclerotic cardiovascular disease. This protein escorts receptors for lysosomal degradation and is involved in cholesterol and fatty acid metabolism (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

PCSK9_0001	c.-331C>A	5UTR	PCSK9	5		UTR	Uncertain Significance	18559913, 28958694, 28965616, Show More >>	5' flanking region		No
PCSK9_0002	c.-287G>A	5UTR	PCSK9	1	SNV	UTR	Benign	18559913	Exon 1		Yes
PCSK9_0003	c.-161C>T	5UTR	PCSK9	1	SNV	UTR	Uncertain Significance	19191301	Exon 1		No
PCSK9_0004	c.-73A>G	5UTR	PCSK9	1	SNV	UTR	Uncertain Significance	20828696	Exon 1		Yes
PCSK9_0005	c.-67C>A	5UTR	PCSK9	1	SNV	UTR	Uncertain Significance	20828696	Exon 1		Yes
PCSK9_0006	c.-64C>T	5UTR	PCSK9	1	SNV	UTR	Benign	21920719	Exon 1		Yes
PCSK9_0007	c.-26G>A	5UTR	PCSK9	1	SNV	UTR	Benign		Exon 1		Yes
PCSK9_0008	c.10G>A	p.Val4Ile	PCSK9	31	SNV	Missense	Uncertain Significance	26374825, 27206942, 30555118, Show More >>	Exon 1	Corneal arcus, xanthomas, coronary artery disease, myocardial infarction, Coronary artery disease, Xanthomas	Yes
PCSK9_0009	c.42_43insTG	p.Leu15Cysfs*30	PCSK9	2	Insertion	Frameshift	Uncertain Significance	32922439	Exon 1		Yes
PCSK9_0010	c.57_65dup	p.Leu21_Leu23dup	PCSK9	1	Duplication	In-frame duplication	Likely Benign	32009526	Exon 1		No
PCSK9_0011	c.60_65dup	p.Leu22_Leu23dup	PCSK9	27	Duplication	In-frame duplication	Uncertain Significance	27784735, 28965616, 30293936, Show More >>	Exon 1		No
PCSK9_0013	c.63_65dup	p.Leu23dup	PCSK9	1	Duplication	In-frame duplication	Benign	25911074	Exon 1		No
PCSK9_0012	c.63_65del	p.Leu23del	PCSK9	1	Deletion	Deletion	Likely Benign	18559913	Exon 1		No
PCSK9_0014	c.75C>T	p.Pro25=	PCSK9	1	SNV	Silent	Uncertain Significance	35626767	Exon 1		Yes
PCSK9_0015	c.80del	p.Gly27Alafs*17	PCSK9	1	Deletion	Frameshift	Uncertain Significance	30827231	Exon 1		No
PCSK9_0016	c.85del	p.Arg29Valfs*15	PCSK9	1	Deletion	Frameshift	Uncertain Significance	30827231	Exon 1		No
PCSK9_0017	c.89C>G	p.Ala30Gly	PCSK9	1	SNV	Missense	Uncertain Significance	31371270	Exon 1		No
PCSK9_0018	c.94G>A	p.Glu32Lys	PCSK9	231	SNV	Missense	Pathogenic	34176852, 20006333, 21146822, Show More >>	Exon 1	Xanthomas, Xanthomas, coronary artery disease	Yes
PCSK9_0019	c.100G>A	p.Glu34Lys	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 1		Yes
PCSK9_0020	c.103G>T	p.Asp35Tyr	PCSK9	5	SNV	Missense	Uncertain Significance	22683120, 26374825, 29127338, Show More >>	Exon 1		Yes
PCSK9_0021	c.109G>T	p.Asp37Tyr	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		No
PCSK9_0022	c.112T>C	p.Tyr38His	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		No
PCSK9_0023	c.113A>T	p.Tyr38Phe	PCSK9	1	SNV	Missense	Uncertain Significance	22683120	Exon 1		No
PCSK9_0024	c.115G>A	p.Glu39Lys	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		Yes
PCSK9_0025	c.118G>A	p.Glu40Lys	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		Yes
PCSK9_0026	c.121C>G	p.Leu41Val	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		No
PCSK9_0027	c.122T>C	p.Leu41Pro	PCSK9	1	SNV	Missense	Uncertain Significance	31949048	Exon 1		No
PCSK9_0028	c.122T>A	p.Leu41Gln	PCSK9	1	SNV	Missense	Uncertain Significance	26802169	Exon 1		Yes
PCSK9_0029	c.128T>C	p.Leu43Pro	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		No
PCSK9_0030	c.130G>T	p.Ala44Ser	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		No
PCSK9_0031	c.130G>C	p.Ala44Pro	PCSK9	1	SNV	Missense	Uncertain Significance	30658056	Exon 1		No
PCSK9_0032	c.137G>T	p.Arg46Leu	PCSK9	1	SNV	Missense	Benign	17493938	Exon 1		Yes
PCSK9_0033	c.139T>G	p.Ser47Ala	PCSK9	1	SNV	Missense	Uncertain Significance	18498363	Exon 1		No
PCSK9_0034	c.141C>T	p.Ser47=	PCSK9	1	SNV	Silent	Benign	30694837	Exon 1		Yes
PCSK9_0035	c.142G>A	p.Glu48Lys	PCSK9	2	SNV	Missense	Uncertain Significance	26374825, 33418990	Exon 1		Yes
PCSK9_0036	c.143A>C	p.Glu48Ala	PCSK9	1	SNV	Missense	Uncertain Significance	18498363	Exon 1		No
PCSK9_0037	c.146A>C	p.Glu49Ala	PCSK9	1	SNV	Missense	Uncertain Significance	18498363	Exon 1		No
PCSK9_0038	c.149A>C	p.Asp50Ala	PCSK9	1	SNV	Missense	Uncertain Significance	18498363	Exon 1		No
PCSK9_0039	c.150C>T	p.Asp50=	PCSK9	1	SNV	Silent	Uncertain Significance	31371270	Exon 1		Yes
PCSK9_0040	c.151G>C	p.Gly51Arg	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 1		No
PCSK9_0042	c.158C>T	p.Ala53Val	PCSK9	1	SNV	Missense	Benign	35022364	Exon 1		Yes
PCSK9_0041	c.158C>G	p.Ala53Gly	PCSK9	2	SNV	Missense	Uncertain Significance	27919364	Exon 1		Yes
PCSK9_0043	c.161A>C	p.Glu54Ala	PCSK9	1	SNV	Missense	Uncertain Significance	34176852	Exon 1		No
PCSK9_0044	c.169G>A	p.Glu57Lys	PCSK9	1	SNV	Missense	Likely Benign	32009526	Exon 1		Yes
PCSK9_0045	c.175G>C	p.Gly59Arg	PCSK9	1	SNV	Missense	Uncertain Significance	36329474	Exon 1		No
PCSK9_0046	c.185C>A	p.Ala62Asp	PCSK9	4	SNV	Missense	Likely Pathogenic	26541928, 33508743, 38122934	Exon 1		Yes
PCSK9_0047	c.202G>A	p.Ala68Thr	PCSK9	1	SNV	Missense	Uncertain Significance	17316651	Exon 1		Yes
PCSK9_0048	c.203C>A	p.Ala68Asp	PCSK9	1	SNV	Missense	Uncertain Significance	36329474	Exon 1		No
PCSK9_0049	c.208-161C>T	Intronic	PCSK9	1	SNV	Intronic	Benign	16875509	Intron 1		No
PCSK9_0050	c.208G>A	p.Asp70Asn	PCSK9	1	SNV	Missense	Uncertain Significance	22027821	Exon 2		No
PCSK9_0051	c.212C>T	p.Pro71Leu	PCSK9	1	SNV	Missense	Uncertain Significance	26374825	Exon 2		Yes
PCSK9_0052	c.229A>G	p.Thr77Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		Yes
PCSK9_0053	c.236T>C	p.Val79Ala	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 2		No
PCSK9_0054	c.239T>C	p.Val80Ala	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 2		No
PCSK9_0055	c.242T>C	p.Val81Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		No
PCSK9_0056	c.244C>G	p.Leu82Val	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		No
PCSK9_0057	c.245T>C	p.Leu82Pro	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		No
PCSK9_0058	c.251A>C	p.Glu84Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		No
PCSK9_0059	c.253G>A	p.Glu85Lys	PCSK9	2	SNV	Missense	Uncertain Significance	29399563, 31491741	Exon 2		Yes
PCSK9_0060	c.254A>C	p.Glu85Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		No
PCSK9_0061	c.256A>G	p.Thr86Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		No
PCSK9_0062	c.274G>A	p.Glu92Lys	PCSK9	1	SNV	Missense	Uncertain Significance	37331523	Exon 2		No
PCSK9_0063	c.277C>T	p.Arg93Cys	PCSK9	1	SNV	Missense	Benign	28784313	Exon 2		Yes
PCSK9_0064	c.286C>T	p.Arg96Cys	PCSK9	8	SNV	Missense	Likely Pathogenic	26374825, 29386597, 34407635, Show More >>	Exon 2	Corneal arcus, myocardial infarction	Yes
PCSK9_0065	c.287G>T	p.Arg96Leu	PCSK9	1	SNV	Missense	Likely Pathogenic	28235710	Exon 2		No
PCSK9_0066	c.290G>A	p.Arg97His	PCSK9	1	SNV	Missense	Uncertain Significance	33147992	Exon 2		Yes
PCSK9_0067	c.290_292del	p.Arg97del	PCSK9	1	Deletion	Deletion	Uncertain Significance	20623344	Exon 2		No
PCSK9_0068	c.307G>T	p.Ala103Ser	PCSK9	1	SNV	Missense	Uncertain Significance	35928446	Exon 2		No
PCSK9_0069	c.310C>T	p.Arg104Cys	PCSK9	1	SNV	Missense	Uncertain Significance	17316651	Exon 2		Yes
PCSK9_0070	c.311G>A	p.Arg104His	PCSK9	1	SNV	Missense	Uncertain Significance	25412415	Exon 2		Yes
PCSK9_0071	c.313C>T	p.Arg105Trp	PCSK9	1	SNV	Missense	Uncertain Significance	28235710	Exon 2		Yes
PCSK9_0072	c.316G>A	p.Gly106Arg	PCSK9	1	SNV	Missense	Uncertain Significance	17502100	Exon 2		Yes
PCSK9_0073	c.316G>C	p.Gly106Arg	PCSK9	1	SNV	Missense	Uncertain Significance	17502100	Exon 2		No
PCSK9_0074	c.322C>T	p.Leu108Phe	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 2		Yes
PCSK9_0075	c.323T>G	p.Leu108Arg	PCSK9	7	SNV	Missense	Pathogenic	22683120, 26374825, 31932084, Show More >>	Exon 2		Yes
PCSK9_0076	c.326C>T	p.Thr109Ile	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		No
PCSK9_0077	c.335T>C	p.Leu112Pro	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 2		Yes
PCSK9_0078	c.336G>A	p.Leu112=	PCSK9	1	SNV	Silent	Benign	25412415	Exon 2		Yes
PCSK9_0079	c.341T>C	p.Val114Ala	PCSK9	1	SNV	Missense	Uncertain Significance	27739219	Exon 2		Yes
PCSK9_0080	c.352C>T	p.Leu118Phe	PCSK9	1	SNV	Missense	Uncertain Significance	25412415	Exon 2		Yes
PCSK9_0081	c.380G>C	p.Ser127Thr	PCSK9	1	SNV	Missense	Uncertain Significance	18354137	Exon 2		No
PCSK9_0082	c.381T>A	p.Ser127Arg	PCSK9	43	SNV	Missense	Pathogenic	12730697, 15166014, 17765244, Show More >>	Exon 2	Corneal arcus, xanthomas, angina, coronary artery disease, Coronary artery disease, myocardial infarction, Xanthomas	Yes
PCSK9_0083	c.382G>A	p.Gly128Ser	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 2		Yes
PCSK9_0085	c.384C>T	p.Gly128=	PCSK9	1	SNV	Silent	Uncertain Significance	29572815	Exon 2		Yes
PCSK9_0084	c.384C>A	p.Gly128=	PCSK9	1	SNV	Silent	Uncertain Significance	29572815	Exon 2		No
PCSK9_0086	c.385G>A	p.Asp129Asn	PCSK9	9	SNV	Missense	Likely Pathogenic	19081568, 23064986, 26374825, Show More >>	Exon 2		Yes
PCSK9_0087	c.386A>G	p.Asp129Gly	PCSK9	1	SNV	Missense	Likely Pathogenic	17765244	Exon 2		Yes
PCSK9_0088	c.396G>C	p.Glu132Asp	PCSK9	1	SNV	Missense	Uncertain Significance	31491741	Exon 2		No
PCSK9_0089	c.399+165T>C	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 2		No
PCSK9_0090	c.400-22C>A	Intronic	PCSK9	9	SNV	Intronic	Uncertain Significance	20828696	Intron 2		Yes
PCSK9_0091	c.411G>T	p.Leu137Phe	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 3		No
PCSK9_0092	c.420C>G	p.Val140=	PCSK9	1	SNV	Silent	Uncertain Significance	17316651	Exon 3		No
PCSK9_0093	c.420C>T	p.Val140=	PCSK9	1	SNV	Silent	Uncertain Significance	17316651	Exon 3		Yes
PCSK9_0094	c.426C>G	p.Tyr142*	PCSK9	1	SNV	Nonsense	Likely Benign	17493938	Exon 3		Yes
PCSK9_0095	c.430G>A	p.Glu144Lys	PCSK9	1	SNV	Missense	Uncertain Significance	37378405	Exon 3		Yes
PCSK9_0096	c.431A>C	p.Glu144Ala	PCSK9	1	SNV	Missense	Uncertain Significance	37165876	Exon 3		No
PCSK9_0097	c.434A>C	p.Glu145Ala	PCSK9	1	SNV	Missense	Uncertain Significance	37165876	Exon 3		No
PCSK9_0098	c.439T>G	p.Ser147Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0099	c.440C>G	p.Ser147Cys	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 3		No
PCSK9_0100	c.442T>G	p.Ser148Ala	PCSK9	1	SNV	Missense	Uncertain Significance	25210046	Exon 3		No
PCSK9_0101	c.443C>T	p.Ser148Phe	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0102	c.443_444dup	p.Val149Leufs*38	PCSK9	1	Duplication	Frameshift	Uncertain Significance	38018368	Exon 3		No
PCSK9_0104	c.445G>C	p.Val149Leu	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0103	c.445G>A	p.Val149Ile	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0105	c.446T>C	p.Val149Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0106	c.449_450del	p.Phe150Cysfs*20	PCSK9	1	Deletion	Frameshift	Uncertain Significance	26036859	Exon 3		No
PCSK9_0107	c.451G>T	p.Ala151Ser	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0108	c.452C>G	p.Ala151Gly	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0109	c.454C>G	p.Gln152Glu	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 3		Yes
PCSK9_0110	c.454C>A	p.Gln152Lys	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 3		No
PCSK9_0113	c.455A>G	p.Gln152Arg	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 3		No
PCSK9_0111	c.455A>C	p.Gln152Pro	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 3		No
PCSK9_0112	c.455A>T	p.Gln152Leu	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 3		No
PCSK9_0114	c.456G>C	p.Gln152His	PCSK9	1	SNV	Missense	Uncertain Significance	24808909	Exon 3		Yes
PCSK9_0115	c.457A>G	p.Ser153Gly	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0116	c.461T>C	p.Ile154Thr	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		Yes
PCSK9_0118	c.463C>G	p.Pro155Ala	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0117	c.463C>T	p.Pro155Ser	PCSK9	1	SNV	Missense	Uncertain Significance	15358785	Exon 3		No
PCSK9_0119	c.464C>T	p.Pro155Leu	PCSK9	1	SNV	Missense	Uncertain Significance	23535506	Exon 3		Yes
PCSK9_0120	c.467G>A	p.Trp156*	PCSK9	1	SNV	Nonsense	Uncertain Significance	37285261	Exon 3		Yes
PCSK9_0121	c.467G>T	p.Trp156Leu	PCSK9	1	SNV	Missense	Uncertain Significance	19001363	Exon 3		No
PCSK9_0122	c.471C>A	p.Asn157Lys	PCSK9	3	SNV	Missense	Uncertain Significance	15099351, 16424354	Exon 3		Yes
PCSK9_0123	c.479G>A	p.Arg160Gln	PCSK9	1	SNV	Missense	Likely Pathogenic	37108820	Exon 3		Yes
PCSK9_0124	c.503C>T	p.Ala168Val	PCSK9	2	SNV	Missense	Uncertain Significance	31491741	Exon 3		Yes
PCSK9_0125	c.503C>A	p.Ala168Glu	PCSK9	1	SNV	Missense	Uncertain Significance	34447653	Exon 3		Yes
PCSK9_0126	c.517C>T	p.Pro173Ser	PCSK9	1	SNV	Missense	Uncertain Significance	30971288	Exon 3		Yes
PCSK9_0127	c.520C>T	p.Pro174Ser	PCSK9	2	SNV	Missense	Uncertain Significance	28521186, 33418990	Exon 3		Yes
PCSK9_0128	c.522del	p.Asp175Thrfs*11	PCSK9	1	Deletion	Frameshift	Uncertain Significance	25839937	Exon 3		No
PCSK9_0129	c.523+2T>G	Intronic	PCSK9	1	SNV	Splice donor	Uncertain Significance	33418990	Intron 3		No
PCSK9_0130	c.523+2637G>A	Intronic	PCSK9	1	SNV	Intronic	Benign	21862702	Intron 3		No
PCSK9_0131	c.524-90C>G	Intronic	PCSK9	1	SNV	Intronic	Benign	18559913	Intron 3		No
PCSK9_0132	c.524-11G>A	Intronic	PCSK9	1	SNV	Intronic	Benign	36185699	Intron 3		Yes
PCSK9_0133	c.524-4A>G	Intronic	PCSK9	1	SNV	Splice region	Uncertain Significance	31371270	Intron 3		No
PCSK9_0134	c.525C>T	p.Asp175=	PCSK9	1	SNV	Silent	Likely Benign	33111339	Exon 4		Yes
PCSK9_0135	c.530G>A	p.Gly177Asp	PCSK9	3	SNV	Missense	Uncertain Significance	33147992	Exon 4		Yes
PCSK9_0136	c.569A>G	p.Gln190Arg	PCSK9	1	SNV	Missense	Uncertain Significance	19768174	Exon 4		No
PCSK9_0137	c.581G>A	p.Arg194Gln	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 4		Yes
PCSK9_0138	c.599T>C	p.Val200Ala	PCSK9	1	SNV	Missense	Uncertain Significance	33147992	Exon 4		Yes
PCSK9_0139	c.610G>A	p.Asp204Asn	PCSK9	1	SNV	Missense	Uncertain Significance	26036859	Exon 4		Yes
PCSK9_0140	c.611A>C	p.Asp204Ala	PCSK9	1	SNV	Missense	Uncertain Significance	18631360	Exon 4		No
PCSK9_0141	c.616G>A	p.Glu206Lys	PCSK9	1	SNV	Missense	Uncertain Significance	29982529	Exon 4		Yes
PCSK9_0142	c.643C>T	p.Arg215Cys	PCSK9	6	SNV	Missense	Likely Pathogenic	25962062, 34456200, 35137788	Exon 4		Yes
PCSK9_0143	c.644G>A	p.Arg215His	PCSK9	13	SNV	Missense	Pathogenic	18266662, 26374825, 31491741, Show More >>	Exon 4		Yes
PCSK9_0144	c.646T>C	p.Phe216Leu	PCSK9	4	SNV	Missense	Likely Pathogenic	12730697, 26374825	Exon 4		Yes
PCSK9_0145	c.650A>G	p.His217Arg	PCSK9	1	SNV	Missense	Uncertain Significance	20937814	Exon 4		No
PCSK9_0146	c.654A>T	p.Arg218Ser	PCSK9	8	SNV	Missense	Likely Pathogenic	16211558, 26374825, 31932084, Show More >>	Exon 4		Yes
PCSK9_0147	c.655C>G	p.Gln219Glu	PCSK9	1	SNV	Missense	Uncertain Significance	16912035	Exon 4		Yes
PCSK9_0148	c.657+1G>T	Intronic	PCSK9	1	SNV	Splice donor	Uncertain Significance	34341098	Intron 4		Yes
PCSK9_0149	c.657+9G>A	Intronic	PCSK9	1	SNV	Intronic	Benign	36185699	Intron 4		Yes
PCSK9_0150	c.657+76C>A	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 4		Yes
PCSK9_0151	c.657+82G>A	Intronic	PCSK9	1	SNV	Intronic	Benign	18559913	Intron 4		Yes
PCSK9_0152	c.657+114C>A	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 4		Yes
PCSK9_0153	c.658-36G>A	Intronic	PCSK9	1	SNV	Intronic	Benign	36185699	Intron 4		Yes
PCSK9_0154	c.658-7C>T	Intronic	PCSK9	1	SNV	Splice region	Benign	29172679	Intron 4		Yes
PCSK9_0155	c.658-2A>C	Intronic	PCSK9	1	SNV	Splice acceptor	Uncertain Significance	34341098	Intron 4		Yes
PCSK9_0156	c.658G>A	p.Ala220Thr	PCSK9	3	SNV	Missense	Likely Pathogenic	30795984, 34573395	Exon 5		Yes
PCSK9_0157	c.686A>G	p.His229Arg	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 5		No
PCSK9_0158	c.705C>T	p.Ser235=	PCSK9	1	SNV	Silent	Benign	32706999	Exon 5		Yes
PCSK9_0159	c.706G>A	p.Gly236Ser	PCSK9	1	SNV	Missense	Uncertain Significance	18266662	Exon 5		Yes
PCSK9_0160	c.709C>T	p.Arg237Trp	PCSK9	11	SNV	Missense	Uncertain Significance	27765764, 33231818, 33418990, Show More >>	Exon 5		Yes
PCSK9_0161	c.713A>C	p.Asp238Ala	PCSK9	1	SNV	Missense	Uncertain Significance	26195630	Exon 5		No
PCSK9_0162	c.716C>A	p.Ala239Asp	PCSK9	1	SNV	Missense	Uncertain Significance	26195630	Exon 5		No
PCSK9_0164	c.720C>T	p.Gly240=	PCSK9	1	SNV	Silent	Benign	19191301	Exon 5		Yes
PCSK9_0163	c.720C>A	p.Gly240=	PCSK9	1	SNV	Silent	Benign	19191301	Exon 5		Yes
PCSK9_0165	c.733G>A	p.Ala245Thr	PCSK9	1	SNV	Missense	Uncertain Significance	18266662	Exon 5		Yes
PCSK9_0166	c.743G>A	p.Arg248His	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 5		Yes
PCSK9_0167	c.747C>A	p.Ser249Arg	PCSK9	1	SNV	Missense	Uncertain Significance	38336686	Exon 5		Yes
PCSK9_0168	c.751C>T	p.Arg251Cys	PCSK9	2	SNV	Missense	Uncertain Significance	30827231, 33418990	Exon 5		Yes
PCSK9_0169	c.753C>T	p.Arg251=	PCSK9	1	SNV	Silent	Benign	32706999	Exon 5		Yes
PCSK9_0170	c.754G>A	p.Val252Met	PCSK9	1	SNV	Missense	Uncertain Significance	27422940	Exon 5		Yes
PCSK9_0171	c.757C>T	p.Leu253Phe	PCSK9	1	SNV	Missense	Likely Benign	17502100	Exon 5		Yes
PCSK9_0172	c.757C>A	p.Leu253Ile	PCSK9	1	SNV	Missense	Uncertain Significance	16909389	Exon 5		No
PCSK9_0173	c.772A>G	p.Lys258Glu	PCSK9	1	SNV	Missense	Uncertain Significance	33217533	Exon 5		Yes
PCSK9_0174	c.787G>A	p.Gly263Ser	PCSK9	2	SNV	Missense	Uncertain Significance	20006333	Exon 5		Yes
PCSK9_0175	c.791C>T	p.Thr264Ile	PCSK9	1	SNV	Missense	Likely Benign	31491741	Exon 5		Yes
PCSK9_0176	c.799+3A>G	Intronic	PCSK9	1	SNV	Splice region	Benign	29172679	Intron 5		Yes
PCSK9_0177	c.799+64C>A	Intronic	PCSK9	1	SNV	Intronic	Benign	15099351	Intron 5		Yes
PCSK9_0178	c.815G>A	p.Arg272Gln	PCSK9	1	SNV	Missense	Uncertain Significance	18266662	Exon 6		Yes
PCSK9_0179	c.823C>T	p.Gln275*	PCSK9	1	SNV	Nonsense	Uncertain Significance	38402281	Exon 6		No
PCSK9_0180	c.825G>A	p.Gln275=	PCSK9	1	SNV	Silent	Uncertain Significance	19191301	Exon 6		No
PCSK9_0181	c.832C>T	p.Gln278*	PCSK9	1	SNV	Nonsense	Uncertain Significance	38402281	Exon 6		No
PCSK9_0182	c.835C>A	p.Pro279Thr	PCSK9	1	SNV	Missense	Likely Benign	25412415	Exon 6		Yes
PCSK9_0183	c.836C>T	p.Pro279Leu	PCSK9	1	SNV	Missense	Uncertain Significance	37370883	Exon 6		Yes
PCSK9_0184	c.847C>A	p.Leu283Met	PCSK9	1	SNV	Missense	Likely Benign	29259136	Exon 6		Yes
PCSK9_0185	c.899C>T	p.Ala300Val	PCSK9	1	SNV	Missense	Uncertain Significance	36555767	Exon 6		Yes
PCSK9_0186	c.904C>T	p.Gln302*	PCSK9	1	SNV	Nonsense	Uncertain Significance	30354244	Exon 6		No
PCSK9_0187	c.908G>A	p.Arg303His	PCSK9	1	SNV	Missense	Uncertain Significance	36329474	Exon 6		Yes
PCSK9_0188	c.914C>A	p.Ala305Glu	PCSK9	1	SNV	Missense	Uncertain Significance	36185699	Exon 6		Yes
PCSK9_0189	c.918G>T	p.Arg306Ser	PCSK9	2	SNV	Missense	Uncertain Significance	20529551	Exon 6	Xanthomas
PCSK9_0190	c.946G>T	p.Gly316Cys	PCSK9	1	SNV	Missense	Uncertain Significance	29342010	Exon 6		Yes
PCSK9_0191	c.955C>T	p.Arg319Trp	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 6		Yes
PCSK9_0192	c.991C>G	p.Pro331Ala	PCSK9	1	SNV	Missense	Uncertain Significance	29127338	Exon 6		No
PCSK9_0193	c.993C>T	p.Pro331=	PCSK9	1	SNV	Silent	Likely Benign	17316651	Exon 6		Yes
PCSK9_0194	c.995A>G	p.Glu332Gly	PCSK9	1	SNV	Missense	Uncertain Significance	37848354	Exon 6		Yes
PCSK9_0195	c.996+44A>G	Intronic	PCSK9	1	SNV	Intronic	Benign	18559913	Intron 6		Yes
PCSK9_0196	c.997-2A>T	Intronic	PCSK9	1	SNV	Splice acceptor	Uncertain Significance	35803546	Intron 6		Yes
PCSK9_0197	c.1026A>G	p.Gln342=	PCSK9	1	SNV	Silent	Benign	37469559	Exon 7		Yes
PCSK9_0198	c.1027G>C	p.Asp343His	PCSK9	1	SNV	Missense	Uncertain Significance	23054246	Exon 7		No
PCSK9_0199	c.1028A>C	p.Asp343Ala	PCSK9	1	SNV	Missense	Uncertain Significance	23054246	Exon 7		No
PCSK9_0200	c.1030C>A	p.Gln344Lys	PCSK9	1	SNV	Missense	Uncertain Significance	25412415	Exon 7		Yes
PCSK9_0201	c.1035G>A	p.Pro345=	PCSK9	1	SNV	Silent	Uncertain Significance	17142622	Exon 7		Yes
PCSK9_0202	c.1046G>A	p.Gly349Glu	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 7		No
PCSK9_0203	c.1061A>T	p.Asn354Ile	PCSK9	1	SNV	Missense	Uncertain Significance	18266662	Exon 7		Yes
PCSK9_0204	c.1069C>T	p.Arg357Cys	PCSK9	4	SNV	Missense	Likely Pathogenic	29127338, 33418990, 34297352, Show More >>	Exon 7		Yes
PCSK9_0205	c.1070G>A	p.Arg357His	PCSK9	2	SNV	Missense	Likely Pathogenic	16211558, 33418990	Exon 7		Yes
PCSK9_0206	c.1075G>A	p.Val359Met	PCSK9	2	SNV	Missense	Uncertain Significance	27816806	Exon 7	Xanthomas, coronary artery disease
PCSK9_0207	c.1100A>C	p.Asp367Ala	PCSK9	1	SNV	Missense	Likely Pathogenic	24225950	Exon 7		No
PCSK9_0209	c.1120G>C	p.Asp374His	PCSK9	2	SNV	Missense	Likely Pathogenic	26374825	Exon 7		Yes
PCSK9_0208	c.1120G>A	p.Asp374Asn	PCSK9	1	SNV	Missense	Likely Pathogenic	33418990	Exon 7		Yes
PCSK9_0210	c.1120G>T	p.Asp374Tyr	PCSK9	135	SNV	Missense	Pathogenic	14727179, 15099351, 15772090, Show More >>	Exon 7	Xanthomas	Yes
PCSK9_0213	c.1121A>C	p.Asp374Ala	PCSK9	1	SNV	Missense	Pathogenic	18354137	Exon 7		No
PCSK9_0212	c.1121A>G	p.Asp374Gly	PCSK9	1	SNV	Missense	Likely Pathogenic	22875854	Exon 7		No
PCSK9_0211	c.1121A>T	p.Asp374Val	PCSK9	1	SNV	Missense	Pathogenic	22875854	Exon 7		No
PCSK9_0214	c.1129A>G	p.Thr377Ala	PCSK9	1	SNV	Missense	Uncertain Significance	18631360	Exon 7		No
PCSK9_0215	c.1134C>G	p.Cys378Trp	PCSK9	1	SNV	Missense	Uncertain Significance	37378405	Exon 7		Yes
PCSK9_0216	c.1139T>C	p.Val380Ala	PCSK9	1	SNV	Missense	Uncertain Significance	24225950	Exon 7		No
PCSK9_0217	c.1141T>G	p.Ser381Ala	PCSK9	1	SNV	Missense	Uncertain Significance	24225950	Exon 7		No
PCSK9_0218	c.1144C>T	p.Gln382*	PCSK9	1	SNV	Nonsense	Uncertain Significance	38402281	Exon 7		Yes
PCSK9_0219	c.1156T>G	p.Ser386Ala	PCSK9	1	SNV	Missense	Uncertain Significance	19269636	Exon 7		No
PCSK9_0220	c.1159C>T	p.Gln387*	PCSK9	1	SNV	Nonsense	Uncertain Significance	32785571	Exon 7		No
PCSK9_0221	c.1171C>A	p.His391Asn	PCSK9	1	SNV	Missense	Likely Benign	26195630	Exon 7		Yes
PCSK9_0222	c.1180+1G>T	Intronic	PCSK9	1	SNV	Splice donor	Uncertain Significance	38018368	Intron 7		Yes
PCSK9_0223	c.1180+17C>T	Intronic	PCSK9	1	SNV	Intronic	Uncertain Significance	26927322	Intron 7		No
PCSK9_0224	c.1180+22T>C	Intronic	PCSK9	1	SNV	Intronic	Uncertain Significance	20828696	Intron 7		Yes
PCSK9_0225	c.1180+174A>G	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 7		No
PCSK9_0226	c.1181-53T>C	Intronic	PCSK9	6	SNV	Intronic	Uncertain Significance	20828696	Intron 7		Yes
PCSK9_0227	c.1201T>G	p.Ser401Ala	PCSK9	1	SNV	Missense	Uncertain Significance	31553664	Exon 8		No
PCSK9_0228	c.1227C>T	p.Ala409=	PCSK9	1	SNV	Silent	Uncertain Significance	17316651	Exon 8		Yes
PCSK9_0229	c.1233G>A	p.Leu411=	PCSK9	1	SNV	Silent	Uncertain Significance	33732287	Exon 8		Yes
PCSK9_0230	c.1251C>A	p.His417Gln	PCSK9	1	SNV	Missense	Uncertain Significance	27765764	Exon 8		Yes
PCSK9_0231	c.1270A>G	p.Ile424Val	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 8		Yes
PCSK9_0232	c.1274A>G	p.Asn425Ser	PCSK9	1	SNV	Missense	Benign	18566665	Exon 8		Yes
PCSK9_0233	c.1284G>A	p.Trp428*	PCSK9	1	SNV	Nonsense	Uncertain Significance	25046268	Exon 8		No
PCSK9_0234	c.1294G>A	p.Asp432Asn	PCSK9	1	SNV	Missense	Uncertain Significance	25412415	Exon 8		Yes
PCSK9_0235	c.1300C>T	p.Arg434Trp	PCSK9	1	SNV	Missense	Uncertain Significance	35323658	Exon 8		Yes
PCSK9_0236	c.1326C>T	p.Ala442=	PCSK9	1	SNV	Silent	Benign	19191301	Exon 8		Yes
PCSK9_0237	c.1327G>A	p.Ala443Thr	PCSK9	1	SNV	Missense	Benign	33519890	Exon 8		Yes
PCSK9_0238	c.1338dup	p.Ser447Glnfs*35	PCSK9	1	Duplication	Frameshift	Uncertain Significance	38018368	Exon 8		No
PCSK9_0239	c.1346A>G	p.His449Arg	PCSK9	1	SNV	Missense	Uncertain Significance	31386798	Exon 8		No
PCSK9_0240	c.1346A>T	p.His449Leu	PCSK9	1	SNV	Missense	Uncertain Significance	31386798	Exon 8		No
PCSK9_0241	c.1354+102C>T	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 8		No
PCSK9_0242	c.1355-56C>T	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 8		Yes
PCSK9_0243	c.1355G>A	p.Gly452Asp	PCSK9	1	SNV	Missense	Uncertain Significance	26195630	Exon 9		Yes
PCSK9_0244	c.1375A>G	p.Thr459Ala	PCSK9	1	SNV	Missense	Uncertain Significance	21771976	Exon 9		Yes
PCSK9_0245	c.1379T>G	p.Val460Gly	PCSK9	1	SNV	Missense	Uncertain Significance	16224054	Exon 9		No
PCSK9_0246	c.1380A>G	p.Val460=	PCSK9	1	SNV	Silent	Benign	18559913	Exon 9		Yes
PCSK9_0247	c.1380A>C	p.Val460=	PCSK9	1	SNV	Silent	Benign	18559913	Exon 9		No
PCSK9_0248	c.1384T>C	p.Ser462Pro	PCSK9	1	SNV	Missense	Uncertain Significance	35323658	Exon 9		Yes
PCSK9_0249	c.1394C>T	p.Ser465Leu	PCSK9	5	SNV	Missense	Likely Pathogenic	24607922, 26374825, 29127338	Exon 9		Yes
PCSK9_0250	c.1397G>A	p.Gly466Glu	PCSK9	1	SNV	Missense	Uncertain Significance	25412415	Exon 9		Yes
PCSK9_0251	c.1399C>G	p.Pro467Ala	PCSK9	5	SNV	Missense	Likely Pathogenic	26541928, 33418990, 38122934	Exon 9		Yes
PCSK9_0252	c.1405C>T	p.Arg469Trp	PCSK9	8	SNV	Missense	Likely Pathogenic	16211558, 27765764, 29127338, Show More >>	Exon 9		Yes
PCSK9_0253	c.1420G>A	p.Val474Ile	PCSK9	1	SNV	Missense	Benign	36499307	Exon 9		Yes
PCSK9_0254	c.1426C>T	p.Arg476Cys	PCSK9	4	SNV	Missense	Uncertain Significance	27919364, 35379578	Exon 9	Myocardial infarction	Yes
PCSK9_0255	c.1431C>T	p.Cys477=	PCSK9	1	SNV	Silent	Benign	19191301	Exon 9		Yes
PCSK9_0256	c.1432G>A	p.Ala478Thr	PCSK9	1	SNV	Missense	Uncertain Significance	31491741	Exon 9		Yes
PCSK9_0257	c.1438G>A	p.Asp480Asn	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 9		No
PCSK9_0258	c.1439A>C	p.Asp480Ala	PCSK9	1	SNV	Missense	Uncertain Significance	36566984	Exon 9		No
PCSK9_0259	c.1442A>C	p.Glu481Ala	PCSK9	1	SNV	Missense	Uncertain Significance	21771976	Exon 9		No
PCSK9_0260	c.1444G>C	p.Glu482Gln	PCSK9	1	SNV	Missense	Uncertain Significance	24808179	Exon 9		No
PCSK9_0261	c.1445A>G	p.Glu482Gly	PCSK9	1	SNV	Missense	Uncertain Significance	17804797	Exon 9		Yes
PCSK9_0262	c.1447C>G	p.Leu483Val	PCSK9	1	SNV	Missense	Uncertain Significance	19762784	Exon 9		Yes
PCSK9_0263	c.1483C>T	p.Arg495Trp	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 9		Yes
PCSK9_0264	c.1484G>A	p.Arg495Gln	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 9		Yes
PCSK9_0265	c.1486C>T	p.Arg496Trp	PCSK9	33	SNV	Missense	Likely Pathogenic	16183066, 23375686, 27206942, Show More >>	Exon 9	Coronary artery disease, cabg, myocardial infarction, peripheral vascular disease	Yes
PCSK9_0266	c.1487G>A	p.Arg496Gln	PCSK9	2	SNV	Missense	Uncertain Significance	33418990	Exon 9		Yes
PCSK9_0267	c.1488G>A	p.Arg496=	PCSK9	1	SNV	Silent	Uncertain Significance	19191301	Exon 9		No
PCSK9_0268	c.1492G>A	p.Glu498Lys	PCSK9	1	SNV	Missense	Uncertain Significance	22875854	Exon 9		Yes
PCSK9_0269	c.1493A>C	p.Glu498Ala	PCSK9	1	SNV	Missense	Uncertain Significance	36499307	Exon 9		No
PCSK9_0271	c.1495C>T	p.Arg499Cys	PCSK9	1	SNV	Missense	Likely Pathogenic	29399563	Exon 9		Yes
PCSK9_0270	c.1495C>G	p.Arg499Gly	PCSK9	1	SNV	Missense	Likely Pathogenic	36499307	Exon 9		No
PCSK9_0272	c.1496G>A	p.Arg499His	PCSK9	8	SNV	Missense	Likely Pathogenic	31518966	Exon 9		Yes
PCSK9_0273	c.1502A>C	p.Glu501Ala	PCSK9	1	SNV	Missense	Uncertain Significance	21771976	Exon 9		No
PCSK9_0274	c.1510G>T	p.Gly504Trp	PCSK9	2	SNV	Missense	Uncertain Significance	27206942, 31491741	Exon 10		Yes
PCSK9_0275	c.1537A>G	p.Asn513Asp	PCSK9	1	SNV	Missense	Likely Pathogenic	27765764	Exon 10		Yes
PCSK9_0276	c.1540G>A	p.Ala514Thr	PCSK9	1	SNV	Missense	Uncertain Significance	17316651	Exon 10		Yes
PCSK9_0277	c.1545T>G	p.Phe515Leu	PCSK9	12	SNV	Missense	Likely Pathogenic	21115573	Exon 10		No
PCSK9_0278	c.1546G>A	p.Gly516Arg	PCSK9	1	SNV	Missense	Uncertain Significance	37331523	Exon 10		No
PCSK9_0279	c.1547G>T	p.Gly516Val	PCSK9	19	SNV	Missense	Pathogenic	26802169, 33147992, 35910211	Exon 10		Yes
PCSK9_0280	c.1549G>C	p.Gly517Arg	PCSK9	1	SNV	Missense	Uncertain Significance	33173529	Exon 10		No
PCSK9_0281	c.1564G>A	p.Ala522Thr	PCSK9	1	SNV	Missense	Uncertain Significance	26195630	Exon 10		Yes
PCSK9_0282	c.1620A>C	p.Pro540=	PCSK9	1	SNV	Silent	Uncertain Significance	19191301	Exon 10		No
PCSK9_0283	c.1621C>T	p.Pro541Ser	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 10		Yes
PCSK9_0284	c.1658A>G	p.His553Arg	PCSK9	1	SNV	Missense	Benign	33147992	Exon 10		Yes
PCSK9_0285	c.1660C>G	p.Gln554Glu	PCSK9	1	SNV	Missense	Likely Benign	20623344	Exon 10		Yes
PCSK9_0286	c.1663C>T	p.Gln555*	PCSK9	1	SNV	Nonsense	Uncertain Significance	36624149	Exon 10		No
PCSK9_0287	c.1681+63C>T	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 10		Yes
PCSK9_0288	c.1681+64G>A	Intronic	PCSK9	1	SNV	Intronic	Benign		Intron 10		Yes
PCSK9_0289	c.1696T>C	p.Trp566Arg	PCSK9	1	SNV	Missense	Uncertain Significance	33147992	Exon 11		Yes
PCSK9_0290	c.1697G>C	p.Trp566Ser	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 11		Yes
PCSK9_0291	c.1700A>C	p.Glu567Ala	PCSK9	1	SNV	Missense	Uncertain Significance	36566984	Exon 11		No
PCSK9_0292	c.1705G>A	p.Glu569Lys	PCSK9	1	SNV	Missense	Uncertain Significance	25744035	Exon 11		No
PCSK9_0293	c.1727C>T	p.Pro576Leu	PCSK9	1	SNV	Missense	Likely Benign	20538126	Exon 11		Yes
PCSK9_0294	c.1744C>T	p.Arg582*	PCSK9	2	SNV	Nonsense	Uncertain Significance	35910211	Exon 11		Yes
PCSK9_0295	c.1773C>G	p.His591Gln	PCSK9	1	SNV	Missense	Likely Benign	29259136	Exon 11		Yes
PCSK9_0296	c.1781C>A	p.Ala594Asp	PCSK9	1	SNV	Missense	Uncertain Significance	33147992	Exon 11		Yes
PCSK9_0297	c.1792G>A	p.Ala598Thr	PCSK9	1	SNV	Missense	Uncertain Significance	30971288	Exon 11		Yes
PCSK9_0298	c.1820A>C	p.Glu607Ala	PCSK9	1	SNV	Missense	Uncertain Significance	25744035	Exon 11		No
PCSK9_0299	c.1834G>A	p.Glu612Lys	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 11		No
PCSK9_0300	c.1847C>T	p.Pro616Leu	PCSK9	1	SNV	Missense	Uncertain Significance	26195630	Exon 11		Yes
PCSK9_0301	c.1850C>A	p.Ala617Asp	PCSK9	1	SNV	Missense	Uncertain Significance	21722902	Exon 11		Yes
PCSK9_0303	c.1851C>G	p.Ala617=	PCSK9	1	SNV	Silent	Likely Benign		Exon 11		No
PCSK9_0302	c.1851C>T	p.Ala617=	PCSK9	1	SNV	Silent	Likely Benign		Exon 11		Yes
PCSK9_0304	c.1855C>T	p.Gln619*	PCSK9	1	SNV	Nonsense	Uncertain Significance	38907775	Exon 11		Yes
PCSK9_0305	c.1856A>C	p.Gln619Pro	PCSK9	1	SNV	Missense	Benign	36261084	Exon 11		Yes
PCSK9_0306	c.1858G>A	p.Glu620Lys	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 11		Yes
PCSK9_0307	c.1863+1G>A	Intronic	PCSK9	1	SNV	Splice donor	Uncertain Significance	34341098	Intron 11		Yes
PCSK9_0308	c.1863+6G>A	Intronic	PCSK9	1	SNV	Splice region	Uncertain Significance	29192238	Intron 11		Yes
PCSK9_0309	c.1863+20C>G	Intronic	PCSK9	1	SNV	Intronic	Uncertain Significance	33732287	Intron 11		Yes
PCSK9_0310	c.1864-2A>T	Intronic	PCSK9	1	SNV	Splice acceptor	Uncertain Significance	34691145	Intron 11		No
PCSK9_0311	c.1869C>T	p.Thr623=	PCSK9	1	SNV	Silent	Benign	19191301	Exon 12		Yes
PCSK9_0312	c.1870G>A	p.Val624Met	PCSK9	1	SNV	Missense	Uncertain Significance	17316651	Exon 12		Yes
PCSK9_0313	c.1878C>T	p.Cys626=	PCSK9	1	SNV	Silent	Likely Benign	17316651	Exon 12		Yes
PCSK9_0314	c.1886G>A	p.Gly629Asp	PCSK9	1	SNV	Missense	Uncertain Significance	31491741	Exon 12		Yes
PCSK9_0315	c.1903T>C	p.Cys635Arg	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 12		No
PCSK9_0316	c.1906A>C	p.Ser636Arg	PCSK9	2	SNV	Missense	Likely Pathogenic	29127338, 34297352	Exon 12		Yes
PCSK9_0317	c.1928A>G	p.His643Arg	PCSK9	1	SNV	Missense	Uncertain Significance	29127338	Exon 12		No
PCSK9_0318	c.1930G>A	p.Val644Ile	PCSK9	7	SNV	Missense	Uncertain Significance	31491741	Exon 12		Yes
PCSK9_0320	c.1939G>C	p.Ala647Pro	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 12		No
PCSK9_0319	c.1939del	p.Ala647Profs*4	PCSK9	1	Deletion	Frameshift	Uncertain Significance	25839937	Exon 12		No
PCSK9_0321	c.1945G>A	p.Ala649Thr	PCSK9	1	SNV	Missense	Uncertain Significance	31491741	Exon 12		Yes
PCSK9_0322	c.1947C>T	p.Ala649=	PCSK9	1	SNV	Silent	Uncertain Significance	17316651	Exon 12		Yes
PCSK9_0323	c.1948G>A	p.Val650Ile	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 12		Yes
PCSK9_0324	c.1951G>T	p.Asp651Tyr	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 12		Yes
PCSK9_0325	c.1952A>C	p.Asp651Ala	PCSK9	1	SNV	Missense	Uncertain Significance	21771976	Exon 12		No
PCSK9_0326	c.1954A>G	p.Asn652Asp	PCSK9	1	SNV	Missense	Uncertain Significance	34526433	Exon 12		Yes
PCSK9_0327	c.1976G>T	p.Arg659Leu	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 12		Yes
PCSK9_0328	c.1978G>C	p.Asp660His	PCSK9	1	SNV	Missense	Uncertain Significance	25412415	Exon 12		No
PCSK9_0329	c.1978G>A	p.Asp660Asn	PCSK9	1	SNV	Missense	Uncertain Significance	29259136	Exon 12		Yes
PCSK9_0330	c.2002A>G	p.Ser668Gly	PCSK9	1	SNV	Missense	Uncertain Significance	33418990	Exon 12		Yes
PCSK9_0331	c.2004C>A	p.Ser668Arg	PCSK9	7	SNV	Missense	Likely Pathogenic	20006333, 27206942, 31491741, Show More >>	Exon 12	Xanthomas	Yes
PCSK9_0332	c.2005G>A	p.Glu669Lys	PCSK9	1	SNV	Missense	Uncertain Significance	33147992	Exon 12		Yes
PCSK9_0333	c.2009G>A	p.Gly670Glu	PCSK9	1	SNV	Missense	Benign	17493938	Exon 12		Yes
PCSK9_0334	c.2037C>A	p.Cys679*	PCSK9	1	SNV	Nonsense	Benign	17502100	Exon 12		Yes
PCSK9_0335	c.2038C>T	p.Arg680Trp	PCSK9	1	SNV	Missense	Likely Benign	34998859	Exon 12		Yes
PCSK9_0336	c.2039G>A	p.Arg680Gln	PCSK9	1	SNV	Missense	Uncertain Significance	36261084	Exon 12		Yes
PCSK9_0337	c.2045G>A	p.Arg682Gln	PCSK9	1	SNV	Missense	Uncertain Significance	31491741	Exon 12		Yes
PCSK9_0338	c.2048dup	p.His683Glnfs*28	PCSK9	1	Duplication	Frameshift	Uncertain Significance	31419281	Exon 12		Yes
PCSK9_0339	c.2054C>T	p.Ala685Val	PCSK9	1	SNV	Missense	Uncertain Significance	33111339	Exon 12		Yes
PCSK9_0340	c.2062T>G	p.Ser688Ala	PCSK9	1	SNV	Missense	Uncertain Significance	31553664	Exon 12		No
PCSK9_0341	c.2069A>C	p.Glu690Ala	PCSK9	1	SNV	Missense	Uncertain Significance	18498363	Exon 12		No
PCSK9_0342	c.*75C>T	3UTR	PCSK9	1	SNV	UTR	Benign		Exon 12		Yes
PCSK9_0343	c.*345C>T	3UTR	PCSK9	1	SNV	UTR	Benign	34782856	Exon 12		Yes
PCSK9_0344	c.*415G>A	3UTR	PCSK9	1	SNV	UTR	Uncertain Significance	33418990	Exon 12		No
PCSK9_0345	c.*500C>T	3UTR	PCSK9	1	SNV	UTR	Likely Benign		Exon 12		No
PCSK9_0346	c.*571C>T	3UTR	PCSK9	1	SNV	UTR	Benign	33732287	Exon 12		Yes
PCSK9_0347	c.*793C>G	3UTR	PCSK9	1	SNV	UTR	Uncertain Significance	30827231	Exon 12		No
PCSK9_0348	c.*863A>G	3UTR	PCSK9	1	SNV	UTR	Uncertain Significance	33732287	Exon 12		Yes
PCSK9_0349	c.(?_-290)_(*1268_?)dup	Gain (Entire gene)	PCSK9	6	Copy Number Gain	Duplication	Likely Pathogenic	30269829, 32041611	Exons 1-12, Introns 1-11	Xanthomas, Xanthomas, angina, coronary artery disease, cabg, Xanthomas, myocardial infarction	Unknown
PCSK9_0350	c.?	p.Asp50Glu	PCSK9	1		Missense	Uncertain Significance	18498363	Exon 1		Unknown
PCSK9_0351	c.?	p.Cys67Ala	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 1		Unknown
PCSK9_0352	c.?	p.Gln31Asn	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 1		Unknown
PCSK9_0353	c.?	p.Glu48Asp	PCSK9	1		Missense	Uncertain Significance	18498363	Exon 1		Unknown
PCSK9_0354	c.?	p.Glu49Asp	PCSK9	1		Missense	Uncertain Significance	18498363	Exon 1		Unknown
PCSK9_0355	c.?	p.Tyr38Ala	PCSK9	1		Missense	Uncertain Significance	31949048	Exon 1		Unknown
PCSK9_0356	c.?	p.Tyr38Arg	PCSK9	1		Missense	Uncertain Significance	31949048	Exon 1		Unknown
PCSK9_0357	c.?	p.Tyr38Glu	PCSK9	1		Missense	Uncertain Significance	16912035	Exon 1		Unknown
PCSK9_0358	c.?	p.Tyr38Leu	PCSK9	1		Missense	Uncertain Significance	31949048	Exon 1		Unknown
PCSK9_0359	c.?	p.Tyr38Lys	PCSK9	1		Missense	Uncertain Significance	31949048	Exon 1		Unknown
PCSK9_0360	c.?	p.Arg549Ala	PCSK9	1		Missense	Uncertain Significance	36566984	Exon 10		Unknown
PCSK9_0361	c.?	p.Asn533Ala	PCSK9	1		Missense	Uncertain Significance	16909389	Exon 10		Unknown
PCSK9_0362	c.?	p.Asn533Gln	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 10		Unknown
PCSK9_0363	c.?	p.Cys526Ser	PCSK9	1		Missense	Uncertain Significance	35977495	Exon 10		Unknown
PCSK9_0364	c.?	p.His537Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 10		Unknown
PCSK9_0365	c.?	p.His551Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 10		Unknown
PCSK9_0366	c.?	p.His553Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 10		Unknown
PCSK9_0367	c.?	p.His557Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 10		Unknown
PCSK9_0368	c.?	p.Leu528Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 10		Unknown
PCSK9_0369	c.?	p.Phe515Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 10		Unknown
PCSK9_0370	c.?	p.Arg580Ala	PCSK9	1		Missense	Uncertain Significance	20172854	Exon 11		Unknown
PCSK9_0371	c.?	p.Arg582Ala	PCSK9	1		Missense	Uncertain Significance	20172854	Exon 11		Unknown
PCSK9_0372	c.?	p.Asn586Gln	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 11		Unknown
PCSK9_0373	c.?	p.Cys600Ser	PCSK9	1		Missense	Uncertain Significance	35977495	Exon 11		Unknown
PCSK9_0374	c.?	p.Glu612Asn	PCSK9	1		Missense	Uncertain Significance	25744035	Exon 11		Unknown
PCSK9_0375	c.?	p.His574Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 11		Unknown
PCSK9_0376	c.?	p.His602Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 11		Unknown
PCSK9_0377	c.?	p.His613Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 11		Unknown
PCSK9_0378	c.?	p.Lys609Ala	PCSK9	1		Missense	Uncertain Significance	25744035	Exon 11		Unknown
PCSK9_0379	c.?	p.Val610Arg	PCSK9	1		Missense	Uncertain Significance	33173529	Exon 11		Unknown
PCSK9_0380	c.?	p.Arg682*	PCSK9	1		Nonsense	Uncertain Significance	16912035	Exon 12		Unknown
PCSK9_0381	c.?	p.Arg657Ala	PCSK9	1		Missense	Uncertain Significance	36566984	Exon 12		Unknown
PCSK9_0382	c.?	p.Arg659Ala	PCSK9	1		Missense	Uncertain Significance	36566984	Exon 12		Unknown
PCSK9_0383	c.?	p.Arg659Glu	PCSK9	1		Missense	Uncertain Significance	25744035	Exon 12		Unknown
PCSK9_0384	c.?	p.Arg680Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 12		Unknown
PCSK9_0385	c.?	p.Cys678Ser	PCSK9	1		Missense	Uncertain Significance	35977495	Exon 12		Unknown
PCSK9_0386	c.?	p.Cys679Ala	PCSK9	1		Missense	Uncertain Significance	33515402	Exon 12		Unknown
PCSK9_0387	c.?	p.Cys679Ser	PCSK9	1		Missense	Uncertain Significance	33515402	Exon 12		Unknown
PCSK9_0388	c.?	p.Ser666Ala	PCSK9	1		Missense	Uncertain Significance	31553664	Exon 12		Unknown
PCSK9_0389	c.?	p.Ser666Glu	PCSK9	1		Missense	Uncertain Significance	31553664	Exon 12		Unknown
PCSK9_0390	c.?	p.Ser668Ala	PCSK9	1		Missense	Uncertain Significance	31553664	Exon 12		Unknown
PCSK9_0391	c.?	p.Ser668Glu	PCSK9	1		Missense	Uncertain Significance	31553664	Exon 12		Unknown
PCSK9_0392	c.?	p.Ser688Asp	PCSK9	1		Missense	Uncertain Significance	31553664	Exon 12		Unknown
PCSK9_0393	c.?	p.Val644Arg	PCSK9	1		Missense	Uncertain Significance	33173529	Exon 12		Unknown
PCSK9_0394	c.?	p.Arg104Gln	PCSK9	1		Missense	Uncertain Significance	36851576	Exon 2		Unknown
PCSK9_0395	c.?	p.Arg105Ala	PCSK9	1		Missense	Uncertain Significance	36566984	Exon 2		Unknown
PCSK9_0396	c.?	p.Arg93Ala	PCSK9	1		Missense	Uncertain Significance	30463987	Exon 2		Unknown
PCSK9_0397	c.?	p.Asp70Pro	PCSK9	1		Missense	Uncertain Significance	22027821	Exon 2		Unknown
PCSK9_0398	c.?	p.His87Ala	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 2		Unknown
PCSK9_0399	c.?	p.Leu82Ala	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 2		Unknown
PCSK9_0400	c.?	p.Leu88Ala	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 2		Unknown
PCSK9_0401	c.?	p.Lys83Ala	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 2		Unknown
PCSK9_0402	c.?	p.Met126Ala	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 2		Unknown
PCSK9_0403	c.?	p.Ser127Ala	PCSK9	1		Missense	Likely Pathogenic	15358785	Exon 2		Unknown
PCSK9_0404	c.?	p.Ser127Asp	PCSK9	1		Missense	Uncertain Significance	18354137	Exon 2		Unknown
PCSK9_0405	c.?	p.Ser127Leu	PCSK9	1		Missense	Uncertain Significance	18354137	Exon 2		Unknown
PCSK9_0406	c.?	p.Ser127Lys	PCSK9	1		Missense	Uncertain Significance	27896130	Exon 2		Unknown
PCSK9_0407	c.?	p.Ser127Pro	PCSK9	1		Missense	Likely Pathogenic	15358785	Exon 2		Unknown
PCSK9_0408	c.?	p.Trp72Ala	PCSK9	1		Missense	Uncertain Significance	17435765	Exon 2		Unknown
PCSK9_0409	c.?	p.Trp72His	PCSK9	1		Missense	Uncertain Significance	17435765	Exon 2		Unknown
PCSK9_0410	c.?	p.Tyr78Ala	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 2		Unknown
PCSK9_0411	c.?	p.Val79Ile	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 2		Unknown
PCSK9_0412	c.?	p.Val80Ile	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 2		Unknown
PCSK9_0413	c.?	p.Val80Leu	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 2		Unknown
PCSK9_0414	c.?	p.Ser153*	PCSK9	1		Nonsense	Uncertain Significance	22027821	Exon 3		Unknown
PCSK9_0415	c.?	p.Ala151Leu	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 3		Unknown
PCSK9_0416	c.?	p.Arg167Ala	PCSK9	1		Missense	Uncertain Significance	28825733	Exon 3		Unknown
PCSK9_0417	c.?	p.Gln152Ala	PCSK9	1		Missense	Uncertain Significance	29259136	Exon 3		Unknown
PCSK9_0418	c.?	p.Gln152Asn	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0419	c.?	p.Gln152Asp	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0420	c.?	p.Gln152Cys	PCSK9	1		Missense	Uncertain Significance	25210046	Exon 3		Unknown
PCSK9_0421	c.?	p.Gln152Gly	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0422	c.?	p.Gln152Ile	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0423	c.?	p.Gln152Met	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0424	c.?	p.Gln152Phe	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0425	c.?	p.Gln152Ser	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0426	c.?	p.Gln152Thr	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0427	c.?	p.Gln152Trp	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0428	c.?	p.Gln152Tyr	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0429	c.?	p.Gln152Val	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0430	c.?	p.Ile143Pro	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0431	c.?	p.Ile154Ala	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 3		Unknown
PCSK9_0432	c.?	p.Ile154Glu	PCSK9	1		Missense	Uncertain Significance	35901214	Exon 3		Unknown
PCSK9_0433	c.?	p.Ile161Ala	PCSK9	1		Missense	Uncertain Significance	19001363	Exon 3		Unknown
PCSK9_0434	c.?	p.Leu158Ala	PCSK9	1		Missense	Uncertain Significance	24225950	Exon 3		Unknown
PCSK9_0435	c.?	p.Phe150Ala	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 3		Unknown
PCSK9_0436	c.?	p.Pro138Tyr	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 3		Unknown
PCSK9_0437	c.?	p.Pro155Glu	PCSK9	1		Missense	Uncertain Significance	35901214	Exon 3		Unknown
PCSK9_0438	c.?	p.Pro155Gly	PCSK9	1		Missense	Uncertain Significance	19001363	Exon 3		Unknown
PCSK9_0439	c.?	p.Ser148Leu	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 3		Unknown
PCSK9_0440	c.?	p.Ser153Ala	PCSK9	1		Missense	Uncertain Significance	18631360	Exon 3		Unknown
PCSK9_0441	c.?	p.Ser153Gln	PCSK9	1		Missense	Uncertain Significance	29259136	Exon 3		Unknown
PCSK9_0442	c.?	p.Trp156Ala	PCSK9	1		Missense	Uncertain Significance	25210046	Exon 3		Unknown
PCSK9_0443	c.?	p.Trp156Arg	PCSK9	1		Missense	Uncertain Significance	27422940	Exon 3		Unknown
PCSK9_0444	c.?	p.Trp156Glu	PCSK9	1		Missense	Uncertain Significance	35901214	Exon 3		Unknown
PCSK9_0445	c.?	p.Tyr142Ala	PCSK9	1		Missense	Uncertain Significance	17435765	Exon 3		Unknown
PCSK9_0446	c.?	p.Arg194Ala	PCSK9	1		Missense	Uncertain Significance	26195630	Exon 4		Unknown
PCSK9_0447	c.?	p.Arg215Ala	PCSK9	1		Missense	Uncertain Significance	23135270	Exon 4		Unknown
PCSK9_0448	c.?	p.Arg218Ala	PCSK9	1		Missense	Uncertain Significance	23135270	Exon 4		Unknown
PCSK9_0449	c.?	p.Arg218His	PCSK9	1		Missense	Uncertain Significance	27896130	Exon 4		Unknown
PCSK9_0450	c.?	p.Gln190Ala	PCSK9	1		Missense	Likely Pathogenic	18631360	Exon 4		Unknown
PCSK9_0451	c.?	p.Gly213Arg	PCSK9	1		Missense	Uncertain Significance	27422940	Exon 4		Unknown
PCSK9_0452	c.?	p.His217Ala	PCSK9	1		Missense	Uncertain Significance	20937814	Exon 4		Unknown
PCSK9_0453	c.?	p.Ala220Leu	PCSK9	1		Missense	Uncertain Significance	16912035	Exon 5		Unknown
PCSK9_0454	c.?	p.Arg237Ala	PCSK9	1		Missense	Uncertain Significance	18631360	Exon 5		Unknown
PCSK9_0455	c.?	p.Arg237His	PCSK9	1		Missense	Uncertain Significance	20937814	Exon 5		Unknown
PCSK9_0456	c.?	p.Arg248Ala	PCSK9	1		Missense	Uncertain Significance	20937814	Exon 5		Unknown
PCSK9_0457	c.?	p.Arg251Ala	PCSK9	1		Missense	Uncertain Significance	20937814	Exon 5		Unknown
PCSK9_0458	c.?	p.His226Ala	PCSK9	1		Missense	Uncertain Significance	34606887	Exon 5		Unknown
PCSK9_0459	c.?	p.His229Ala	PCSK9	1		Missense	Uncertain Significance	18666258	Exon 5		Unknown
PCSK9_0460	c.?	p.Leu253Ala	PCSK9	1		Missense	Uncertain Significance	16909389	Exon 5		Unknown
PCSK9_0461	c.?	p.Lys222Ala	PCSK9	1		Missense	Likely Pathogenic	18631360	Exon 5		Unknown
PCSK9_0462	c.?	p.Val233Leu	PCSK9	1		Missense	Uncertain Significance	29982529	Exon 5		Unknown
PCSK9_0463	c.?	p.Arg306Ser	PCSK9	1		Missense	Uncertain Significance	26608663	Exon 6		Unknown
PCSK9_0464	c.?	p.Asn317Ala	PCSK9	1		Missense	Uncertain Significance	15358785	Exon 6		Unknown
PCSK9_0465	c.?	p.Cys301Ala	PCSK9	1		Missense	Uncertain Significance	22875854	Exon 6		Unknown
PCSK9_0466	c.?	p.Asp374Arg	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0467	c.?	p.Asp374Gln	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0468	c.?	p.Asp374Glu	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0469	c.?	p.Asp374Ile	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0470	c.?	p.Asp374Leu	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0471	c.?	p.Asp374Lys	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0472	c.?	p.Asp374Met	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0473	c.?	p.Asp374Phe	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0474	c.?	p.Asp374Pro	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0475	c.?	p.Asp374Ser	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0476	c.?	p.Asp374Thr	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0477	c.?	p.Asp374Trp	PCSK9	1		Missense	Likely Pathogenic	22875854	Exon 7		Unknown
PCSK9_0478	c.?	p.Cys375Ala	PCSK9	1		Missense	Likely Pathogenic	18631360	Exon 7		Unknown
PCSK9_0479	c.?	p.Cys378Ala	PCSK9	1		Missense	Uncertain Significance	18631360	Exon 7		Unknown
PCSK9_0480	c.?	p.Gln382Ala	PCSK9	1		Missense	Uncertain Significance	24225950	Exon 7		Unknown
PCSK9_0481	c.?	p.Ile369Ala	PCSK9	1		Missense	Uncertain Significance	24225950	Exon 7		Unknown
PCSK9_0482	c.?	p.Phe379Ala	PCSK9	1		Missense	Likely Pathogenic	26195630	Exon 7		Unknown
PCSK9_0483	c.?	p.Ser372His	PCSK9	1		Missense	Likely Pathogenic	25744035	Exon 7		Unknown
PCSK9_0484	c.?	p.Ser372Trp	PCSK9	1		Missense	Likely Pathogenic	25744035	Exon 7		Unknown
PCSK9_0485	c.?	p.Ser376Ala	PCSK9	1		Missense	Likely Pathogenic	18631360	Exon 7		Unknown
PCSK9_0486	c.?	p.His449Ala	PCSK9	1		Missense	Uncertain Significance	31386798	Exon 8		Unknown
PCSK9_0487	c.?	p.Ser401Glu	PCSK9	1		Missense	Uncertain Significance	31553664	Exon 8		Unknown
PCSK9_0488	c.?	p.Leu455*	PCSK9	1		Nonsense	Uncertain Significance	20937814	Exon 9		Unknown
PCSK9_0489	c.?	p.Arg458Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 9		Unknown
PCSK9_0490	c.?	p.Arg469Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 9		Unknown
PCSK9_0491	c.?	p.Arg476Ala	PCSK9	1		Missense	Uncertain Significance	36566984	Exon 9		Unknown
PCSK9_0492	c.?	p.Arg491Ala	PCSK9	1		Missense	Uncertain Significance	36566984	Exon 9		Unknown
PCSK9_0493	c.?	p.Arg495Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 9		Unknown
PCSK9_0494	c.?	p.Glu482Arg	PCSK9	1		Missense	Uncertain Significance	24808179	Exon 9		Unknown
PCSK9_0495	c.?	p.Lys494Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 9		Unknown
PCSK9_0496	c.?	p.Phe456Ala	PCSK9	1		Missense	Uncertain Significance	36566984	Exon 9		Unknown
PCSK9_0497	c.?	p.Trp461Ala	PCSK9	1		Missense	Uncertain Significance	21771976	Exon 9		Unknown
PCSK9_0498	c.(?_-290)_(*1268_?)del	Deletion (Entire gene)	PCSK9	1	Copy Number Loss	Deletion	Uncertain Significance	24924410	Exons 1-12, Introns 1-11		Unknown

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Column Name	Table View	Detail View
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

Notes:

Click the PMID number to go to the corresponding publication.
All variants are referencing NM_174936.4 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.
Don’t see a variant of interest? Contribute data through the Register Variant form.
Explore considerations about Variants of Uncertain Significance (VUS)
Variants were classified by standard ACMG/AMP criteria. Loss of function variants are not typically causative for FH and HoFH but may be causative for other phenotypes.

Homozygous familial hypercholesterolemia

Introduction

Variant List

Gene Structure

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