APOB

Homozygous familial hypercholesterolemia

Home » HoFH » APOB

Introduction

The APOB gene, which stands for apolipoprotein B, is located on chromosome 2p24.1. It has 29 exons (1) spanning 42.6 kb (2) and encodes a 4563 amino acid protein. The APOB gene is the ligand for the LDL receptor. Recognition of the receptor results in LDL catabolism (3). There are two main isoforms: apoB-48 is expressed exclusively in the gut and apoB-100 is expressed in the liver. Defects in this gene block the binding of LDL, resulting in severely elevated LDL levels. Because defects impact both plasma cholesterol and ApoB levels, they can cause a variety of lipid disorders including: hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia (2).

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

APOB_0001	c.13538T>G	p.Phe4513Cys	APOB	1	SNV	Missense	Uncertain Significance	32044282	Exon 29		Yes
APOB_0002	c.13525T>A	p.Tyr4509Asn	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 29		No
APOB_0003	c.13480_13482del	p.Gln4494del	APOB	6	Deletion	Deletion	Uncertain Significance	24234650, 32770674, 33269076, Show More >>	Exon 29	Cardiovascular disease	No
APOB_0004	c.13451C>T	p.Thr4484Met	APOB	1	SNV	Missense	Benign	30782561	Exon 29		Yes
APOB_0005	c.13444A>G	p.Ile4482Val	APOB	1	SNV	Missense	Uncertain Significance	22095935	Exon 29		Yes
APOB_0006	c.13441G>A	p.Ala4481Thr	APOB	1	SNV	Missense	Benign	21408211	Exon 29		Yes
APOB_0007	c.13288T>A	p.Ser4430Thr	APOB	1	SNV	Missense	Uncertain Significance	27919364	Exon 29		Yes
APOB_0008	c.13242del	p.Leu4415*	APOB	1	Deletion	Nonsense	Uncertain Significance	35052492	Exon 29		No
APOB_0009	c.13229T>C	p.Leu4410Pro	APOB	1	SNV	Missense	Likely Pathogenic	15375179	Exon 29		No
APOB_0010	c.13184G>A	p.Gly4395Asp	APOB	1	SNV	Missense	Uncertain Significance	18325181	Exon 29		No
APOB_0011	c.13181T>C	p.Val4394Ala	APOB	1	SNV	Missense	Uncertain Significance	16250003	Exon 29		Yes
APOB_0012	c.13175G>A	p.Ser4392Asn	APOB	1	SNV	Missense	Uncertain Significance	33418990	Exon 29		Yes
APOB_0013	c.13158del	p.Glu4387Asnfs*7	APOB	2	Deletion	Frameshift	Uncertain Significance	26020417	Exon 29		No
APOB_0014	c.13154G>A	p.Arg4385His	APOB	1	SNV	Missense	Uncertain Significance	20506408	Exon 29		Yes
APOB_0015	c.13153C>T	p.Arg4385Cys	APOB	1	SNV	Missense	Uncertain Significance	22294733	Exon 29		Yes
APOB_0016	c.13130T>C	p.Ile4377Thr	APOB	1	SNV	Missense	Uncertain Significance	20506408	Exon 29		Yes
APOB_0017	c.13126C>T	p.Gln4376*	APOB	1	SNV	Nonsense	Pathogenic	27919364	Exon 29	Myocardial infarction	Yes
APOB_0018	c.13057T>G	p.Cys4353Gly	APOB	1	SNV	Missense	Likely Pathogenic	9226457	Exon 29		No
APOB_0019	c.13055T>A	p.Leu4352Gln	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 29		No
APOB_0020	c.13028_13029del	p.Tyr4343Cysfs*3	APOB	1	Deletion	Frameshift	Uncertain Significance	23775634	Exon 29		No
APOB_0021	c.13013G>A	p.Ser4338Asn	APOB	1	SNV	Missense	Benign	19200547	Exon 29		Yes
APOB_0022	c.12958A>G	p.Met4320Val	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 29		No
APOB_0023	c.12940A>G	p.Ile4314Val	APOB	1	SNV	Missense	Uncertain Significance	26415676	Exon 29		Yes
APOB_0024	c.12890G>A	p.Arg4297His	APOB	1	SNV	Missense	Uncertain Significance	23775634	Exon 29		Yes
APOB_0025	c.12859A>G	p.Ile4287Val	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 29		No
APOB_0026	c.12853A>T	p.Lys4285*	APOB	1	SNV	Nonsense	Likely Pathogenic	35999587	Exon 29		No
APOB_0027	c.12809G>C	p.Arg4270Thr	APOB	1	SNV	Missense	Benign	21408211	Exon 29		Yes
APOB_0028	c.12807T>C	p.Tyr4269=	APOB	1	SNV	Silent	Uncertain Significance	9050776	Exon 29		Yes
APOB_0029	c.12803T>C	p.Met4268Thr	APOB	1	SNV	Missense	Likely Benign	30694837	Exon 29		Yes
APOB_0031	c.12794T>C	p.Val4265Ala	APOB	2	SNV	Missense	Uncertain Significance	26415676, 30270084	Exon 29		Yes
APOB_0030	c.12794T>A	p.Val4265Glu	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 29		No
APOB_0032	c.12766G>A	p.Glu4256Lys	APOB	1	SNV	Missense	Likely Benign		Exon 29		Yes
APOB_0033	c.12739C>T	p.Gln4247*	APOB	1	SNV	Nonsense	Uncertain Significance	33418990	Exon 29		Yes
APOB_0034	c.12699G>A	p.Ser4233=	APOB	1	SNV	Silent	Likely Benign	29572815	Exon 29		Yes
APOB_0035	c.12697T>A	p.Ser4233Thr	APOB	1	SNV	Missense	Benign	21033204	Exon 29		Yes
APOB_0036	c.12696T>A	p.Tyr4232*	APOB	1	SNV	Nonsense	Pathogenic	31345425	Exon 29		Yes
APOB_0037	c.12649T>C	p.Cys4217Arg	APOB	1	SNV	Missense	Uncertain Significance	34998859	Exon 29		No
APOB_0038	c.12614C>T	p.Pro4205Leu	APOB	2	SNV	Missense	Uncertain Significance	27932355	Exon 29		Yes
APOB_0039	c.12581T>C	p.Ile4194Thr	APOB	4	SNV	Missense	Uncertain Significance	27932355	Exon 29		Yes
APOB_0040	c.12541G>A	p.Glu4181Lys	APOB	1	SNV	Missense	Benign	19200547	Exon 29		Yes
APOB_0041	c.12504G>A	p.Lys4168=	APOB	1	SNV	Silent	Uncertain Significance	12124991	Exon 29		No
APOB_0042	c.12443_12444delinsAA	p.Ala4148Glu	APOB	1	Delins	Missense	Uncertain Significance	37370883	Exon 29		Yes
APOB_0043	c.12382G>A	p.Val4128Met	APOB	1	SNV	Missense	Likely Benign	21408211	Exon 29		Yes
APOB_0044	c.12381C>T	p.Asp4127=	APOB	1	SNV	Silent	Uncertain Significance	32770674	Exon 29		Yes
APOB_0045	c.12348T>C	p.Tyr4116=	APOB	1	SNV	Silent	Uncertain Significance	30270084	Exon 29		Yes
APOB_0046	c.12246T>A	p.Tyr4082*	APOB	1	SNV	Nonsense	Likely Pathogenic	38018368	Exon 29		No
APOB_0047	c.12181del	p.Glu4061Argfs*7	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 29		Yes
APOB_0048	c.12136C>T	p.Arg4046Trp	APOB	1	SNV	Missense	Uncertain Significance	26608663	Exon 29		Yes
APOB_0049	c.12116T>G	p.Phe4039Cys	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 29		Yes
APOB_0050	c.12087+1G>A	Intronic	APOB	1	SNV	Splice donor	Pathogenic	37138899	Intron 28		No
APOB_0051	c.12037_12038del	p.Met4013Glyfs*2	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 28		No
APOB_0052	c.12016G>A	p.Val4006Ile	APOB	1	SNV	Missense	Likely Benign	36190978	Exon 28		Yes
APOB_0053	c.11953G>A	p.Asp3985Asn	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 28		Yes
APOB_0054	c.11928del	p.Asn3977Ilefs*30	APOB	1	Deletion	Frameshift	Pathogenic	25763510	Exon 28		No
APOB_0055	c.11911G>A	p.Glu3971Lys	APOB	2	SNV	Missense	Uncertain Significance	32770674, 33418990	Exon 28		Yes
APOB_0056	c.11905del	p.Glu3969Asnfs*38	APOB	1	Deletion	Frameshift	Pathogenic	28733173	Exon 28		No
APOB_0057	c.11903+50G>C	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 27		No
APOB_0058	c.11833A>G	p.Thr3945Ala	APOB	1	SNV	Missense	Likely Benign	36648309	Exon 27		Yes
APOB_0059	c.11809G>A	p.Glu3937Lys	APOB	1	SNV	Missense	Uncertain Significance	17158591	Exon 27		Yes
APOB_0060	c.11761G>A	p.Val3921Ile	APOB	1	SNV	Missense	Likely Benign		Exon 26		Yes
APOB_0061	c.11744C>G	p.Ser3915Cys	APOB	1	SNV	Missense	Uncertain Significance	26415676	Exon 26		No
APOB_0062	c.11728G>T	p.Glu3910*	APOB	1	SNV	Nonsense	Pathogenic	30782561	Exon 26		No
APOB_0063	c.11712del	p.Asn3904Lysfs*21	APOB	1	Deletion	Frameshift	Pathogenic	18458293	Exon 26		Yes
APOB_0064	c.11585T>C	p.Ile3862Thr	APOB	4	SNV	Missense	Uncertain Significance	28235710	Exon 26		Yes
APOB_0065	c.11549_11550del	p.Phe3850*	APOB	1	Deletion	Nonsense	Pathogenic	16390683	Exon 26		No
APOB_0066	c.11536A>T	p.Lys3846*	APOB	1	SNV	Nonsense	Pathogenic	36758975	Exon 26		No
APOB_0067	c.11503A>C	p.Ile3835Leu	APOB	1	SNV	Missense	Uncertain Significance	22095935	Exon 26		Yes
APOB_0068	c.11491G>T	p.Val3831Phe	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		No
APOB_0069	c.11483del	p.Pro3828Glnfs*13	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 26		No
APOB_0070	c.11477C>T	p.Thr3826Met	APOB	10	SNV	Missense	Uncertain Significance	26020417, 30270084, 31371270, Show More >>	Exon 26		Yes
APOB_0071	c.11466G>T	p.Val3822=	APOB	1	SNV	Silent	Uncertain Significance	30270055	Exon 26		Yes
APOB_0072	c.11466G>A	p.Val3822=	APOB	1	SNV	Silent	Uncertain Significance	30270055	Exon 26		Yes
APOB_0073	c.11433dup	p.Glu3812*	APOB	1	Duplication	Nonsense	Pathogenic	25763510	Exon 26		No
APOB_0074	c.11401T>A	p.Ser3801Thr	APOB	5	SNV	Missense	Uncertain Significance	26020417, 30270084, 32770674	Exon 26		Yes
APOB_0075	c.11401del	p.Ser3801Leufs*7	APOB	1	Deletion	Frameshift	Likely Pathogenic	38018368	Exon 26		No
APOB_0076	c.11362G>A	p.Glu3788Lys	APOB	1	SNV	Missense	Uncertain Significance	32115487	Exon 26		Yes
APOB_0077	c.11354C>T	p.Thr3785Ile	APOB	1	SNV	Missense	Likely Benign		Exon 26		Yes
APOB_0078	c.11333C>A	p.Ser3778*	APOB	1	SNV	Nonsense	Pathogenic	26064709	Exon 26		No
APOB_0079	c.11330C>A	p.Ser3777*	APOB	1	SNV	Nonsense	Pathogenic	16390683	Exon 26		Yes
APOB_0080	c.11303T>C	p.Ile3768Thr	APOB	1	SNV	Missense	Uncertain Significance	29192238	Exon 26		Yes
APOB_0081	c.11290G>A	p.Asp3764Asn	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 26		Yes
APOB_0082	c.11283C>A	p.Cys3761*	APOB	1	SNV	Nonsense	Pathogenic	38710625	Exon 26		Yes
APOB_0083	c.11261C>T	p.Thr3754Ile	APOB	1	SNV	Missense	Uncertain Significance	31371270	Exon 26		Yes
APOB_0084	c.11257T>C	p.Phe3753Leu	APOB	1	SNV	Missense	Likely Benign		Exon 26		Yes
APOB_0085	c.11248C>T	p.His3750Tyr	APOB	1	SNV	Missense	Uncertain Significance	30782561	Exon 26		No
APOB_0086	c.11233G>A	p.Val3745Ile	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		Yes
APOB_0087	c.11213A>G	p.Asn3738Ser	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		No
APOB_0088	c.11197C>T	p.Pro3733Ser	APOB	1	SNV	Missense	Uncertain Significance	30827231	Exon 26		No
APOB_0089	c.11138A>C	p.Asn3713Thr	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 26		No
APOB_0090	c.11120C>T	p.Ala3707Val	APOB	1	SNV	Missense	Uncertain Significance	29036232	Exon 26		Yes
APOB_0091	c.11107C>A	p.Arg3703Ser	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 26		No
APOB_0092	c.11095A>T	p.Arg3699*	APOB	1	SNV	Nonsense	Pathogenic	37138899	Exon 26		Yes
APOB_0093	c.11087T>C	p.Ile3696Thr	APOB	1	SNV	Missense	Uncertain Significance	36648309	Exon 26		Yes
APOB_0094	c.11052A>T	p.Leu3684Phe	APOB	4	SNV	Missense	Uncertain Significance	28235710	Exon 26		Yes
APOB_0095	c.11040T>G	p.Tyr3680*	APOB	1	SNV	Nonsense	Pathogenic	12124991	Exon 26		Yes
APOB_0096	c.11006T>G	p.Leu3669Arg	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		No
APOB_0097	c.10996G>A	p.Glu3666Lys	APOB	1	SNV	Missense	Uncertain Significance	23775634	Exon 26		Yes
APOB_0098	c.10944C>T	p.Val3648=	APOB	1	SNV	Silent	Uncertain Significance	30270084	Exon 26		Yes
APOB_0099	c.10913G>A	p.Arg3638Gln	APOB	1	SNV	Missense	Benign	19200547	Exon 26		Yes
APOB_0100	c.10848del	p.Gly3617Alafs*6	APOB	1	Deletion	Frameshift	Pathogenic	34340953	Exon 26		No
APOB_0101	c.10780T>C	p.Trp3594Arg	APOB	1	SNV	Missense	Uncertain Significance	23064986	Exon 26		Yes
APOB_0102	c.10748A>T	p.His3583Leu	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 26		No
APOB_0103	c.10740C>T	p.Asn3580=	APOB	1	SNV	Silent	Uncertain Significance	33807407	Exon 26		Yes
APOB_0104	c.10740C>G	p.Asn3580Lys	APOB	1	SNV	Missense	Uncertain Significance	31153847	Exon 26		Yes
APOB_0105	c.10739A>G	p.Asn3580Ser	APOB	1	SNV	Missense	Uncertain Significance	37675602	Exon 26		Yes
APOB_0106	c.10737C>T	p.Thr3579=	APOB	1	SNV	Silent	Benign	10882754	Exon 26		Yes
APOB_0107	c.10728dup	p.Phe3577Leufs*36	APOB	1	Duplication	Frameshift	Likely Pathogenic	18710658	Exon 26		No
APOB_0108	c.10708C>T	p.His3570Tyr	APOB	11	SNV	Missense	Uncertain Significance	26361156, 26666465, 29598884, Show More >>	Exon 26	Xanthelasmas, coronary artery disease, myocardial infarction, peripheral vascular disease, valvular heart disease	Yes
APOB_0109	c.10707C>T	p.Asn3569=	APOB	1	SNV	Silent	Uncertain Significance	9925662	Exon 26		Yes
APOB_0110	c.10706del	p.Asn3569Thrfs*5	APOB	1	Deletion	Frameshift	Pathogenic	18261467	Exon 26		No
APOB_0111	c.10701G>T	p.Thr3567=	APOB	1	SNV	Silent	Benign	9925662	Exon 26		Yes
APOB_0112	c.10701G>A	p.Thr3567=	APOB	1	SNV	Silent	Benign	9925662	Exon 26		Yes
APOB_0113	c.10700C>T	p.Thr3567Met	APOB	5	SNV	Missense	Uncertain Significance	17964958, 23775634, 34573395, Show More >>	Exon 26	Coronary artery disease	Yes
APOB_0114	c.10699A>T	p.Thr3567Ser	APOB	1	SNV	Missense	Uncertain Significance	21502677	Exon 26		No
APOB_0115	c.10679A>G	p.Tyr3560Cys	APOB	6	SNV	Missense	Uncertain Significance	20828696, 21722902, 28895539, Show More >>	Exon 26		Yes
APOB_0116	c.10677A>C	p.Ile3559=	APOB	1	SNV	Silent	Uncertain Significance	20145306	Exon 26		No
APOB_0117	c.10672C>T	p.Arg3558Cys	APOB	83	SNV	Missense	Uncertain Significance	11031227, 11313767, 12535758, Show More >>	Exon 26	Corneal arcus, Corneal arcus, peripheral vascular disease, Xanthomas	Yes
APOB_0118	c.10642_10643del	p.Glu3548Lysfs*64	APOB	1	Deletion	Frameshift	Pathogenic	28733173	Exon 26		No
APOB_0119	c.10633G>T	p.Glu3545*	APOB	1	SNV	Nonsense	Pathogenic	22095935	Exon 26		Yes
APOB_0121	c.10629C>A	p.Asn3543Lys	APOB	1	SNV	Missense	Uncertain Significance	19200547	Exon 26		No
APOB_0120	c.10629C>G	p.Asn3543Lys	APOB	1	SNV	Missense	Uncertain Significance	19200547	Exon 26		Yes
APOB_0122	c.10622T>C	p.Ile3541Thr	APOB	2	SNV	Missense	Uncertain Significance	35910211	Exon 26		No
APOB_0123	c.10621A>G	p.Ile3541Val	APOB	1	SNV	Missense	Uncertain Significance	32660911	Exon 26		No
APOB_0124	c.10596_10597insGCATT	p.Gln3533Alafs*16	APOB	1	Insertion	Frameshift	Uncertain Significance	34176852	Exon 26		No
APOB_0125	c.10591A>G	p.Lys3531Glu	APOB	1	SNV	Missense	Uncertain Significance	37151871	Exon 26		No
APOB_0126	c.10588G>A	p.Val3530Met	APOB	2	SNV	Missense	Uncertain Significance	27784735, 28475941	Exon 26		Yes
APOB_0127	c.10580G>A	p.Arg3527Gln	APOB	3909	SNV	Missense	Likely Pathogenic	10066037, 10090484, 10208479, Show More >>	Exon 26	Angina, Angina, coronary artery disease, cabg, Cardiovascular disease, Corneal a Show More >>	Yes
APOB_0128	c.10580G>T	p.Arg3527Leu	APOB	4	SNV	Missense	Likely Pathogenic	16250003, 23369702, 33269076	Exon 26		Yes
APOB_0129	c.10579C>G	p.Arg3527Gly	APOB	1	SNV	Missense	Likely Pathogenic	16556855	Exon 26		No
APOB_0130	c.10579C>T	p.Arg3527Trp	APOB	161	SNV	Missense	Likely Pathogenic	10388479, 11238294, 12535758, Show More >>	Exon 26	Cardiovascular disease, Myocardial infarction, Xanthomas	Yes
APOB_0131	c.10576A>G	p.Thr3526Ala	APOB	1	SNV	Missense	Uncertain Significance	23775634	Exon 26		Yes
APOB_0132	c.10556C>T	p.Thr3519Ile	APOB	1	SNV	Missense	Uncertain Significance	11781700	Exon 26		Yes
APOB_0133	c.10543A>G	p.Ser3515Gly	APOB	1	SNV	Missense	Uncertain Significance	21862702	Exon 26		No
APOB_0134	c.10520G>C	p.Arg3507Pro	APOB	1	SNV	Missense	Uncertain Significance	16250003	Exon 26		Yes
APOB_0135	c.10520G>A	p.Arg3507Gln	APOB	1	SNV	Missense	Uncertain Significance	34998859	Exon 26		Yes
APOB_0136	c.10519C>T	p.Arg3507Trp	APOB	3	SNV	Missense	Likely Pathogenic	15630635, 16250003, 34363016	Exon 26		Yes
APOB_0137	c.10508C>T	p.Ser3503Leu	APOB	1	SNV	Missense	Uncertain Significance	21862702	Exon 26		Yes
APOB_0138	c.10495G>A	p.Asp3499Asn	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		No
APOB_0139	c.10486A>G	p.Thr3496Ala	APOB	1	SNV	Missense	Uncertain Significance	38939573	Exon 26		Yes
APOB_0140	c.10477G>A	p.Glu3493Lys	APOB	1	SNV	Missense	Uncertain Significance	22883975	Exon 26		Yes
APOB_0141	c.10438A>G	p.Lys3480Glu	APOB	1	SNV	Missense	Uncertain Significance	35052492	Exon 26		Yes
APOB_0142	c.10430_10440del	p.Val3477Alafs*2	APOB	1	Deletion	Frameshift	Pathogenic	30782561	Exon 26		No
APOB_0143	c.10406T>C	p.Leu3469Pro	APOB	1	SNV	Missense	Uncertain Significance	30827231	Exon 26		Yes
APOB_0144	c.10386del	p.Tyr3462*	APOB	1	Deletion	Nonsense	Pathogenic	28733173	Exon 26		No
APOB_0145	c.10385A>G	p.Tyr3462Cys	APOB	1	SNV	Missense	Uncertain Significance	33418990	Exon 26		Yes
APOB_0146	c.10370C>G	p.Ser3457Cys	APOB	1	SNV	Missense	Uncertain Significance	26361156	Exon 26		Yes
APOB_0147	c.10318T>G	p.Phe3440Val	APOB	1	SNV	Missense	Uncertain Significance	30076208	Exon 26		Yes
APOB_0148	c.10312del	p.Met3438*	APOB	1	Deletion	Frameshift	Pathogenic	20360784	Exon 26		No
APOB_0149	c.10294C>G	p.Gln3432Glu	APOB	1	SNV	Missense	Benign	19200547	Exon 26		Yes
APOB_0150	c.10283C>A	p.Thr3428Asn	APOB	1	SNV	Missense	Uncertain Significance	36190978	Exon 26		Yes
APOB_0151	c.10280C>A	p.Thr3427Lys	APOB	1	SNV	Missense	Uncertain Significance	9254062	Exon 26		No
APOB_0152	c.10277C>T	p.Ala3426Val	APOB	2	SNV	Missense	Uncertain Significance	23054246, 24987033	Exon 26		No
APOB_0153	c.10267G>A	p.Val3423Met	APOB	1	SNV	Missense	Uncertain Significance	19200547	Exon 26		Yes
APOB_0154	c.10253C>T	p.Thr3418Met	APOB	1	SNV	Missense	Uncertain Significance	36190978	Exon 26		Yes
APOB_0155	c.10193C>T	p.Ala3398Val	APOB	1	SNV	Missense	Uncertain Significance	9568749	Exon 26		Yes
APOB_0156	c.10186G>A	p.Ala3396Thr	APOB	5	SNV	Missense	Uncertain Significance	29386597	Exon 26	Corneal arcus, myocardial infarction	Yes
APOB_0157	c.10182G>T	p.Lys3394Asn	APOB	7	SNV	Missense	Uncertain Significance	22408029	Exon 26		Yes
APOB_0158	c.10168A>G	p.Lys3390Glu	APOB	1	SNV	Missense	Likely Pathogenic	12124991	Exon 26		No
APOB_0160	c.10163C>T	p.Thr3388Ile	APOB	1	SNV	Missense	Uncertain Significance	30270055, 32897268	Exon 26		Yes
APOB_0159	c.10163C>A	p.Thr3388Lys	APOB	1	SNV	Missense	Uncertain Significance	21408211	Exon 26		No
APOB_0161	c.10157G>A	p.Arg3386Lys	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 26		Yes
APOB_0162	c.10131G>A	p.Leu3377=	APOB	1	SNV	Silent	Uncertain Significance	10388479	Exon 26		Yes
APOB_0163	c.10114T>G	p.Ser3372Ala	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 26		Yes
APOB_0164	c.10093C>G	p.His3365Asp	APOB	1	SNV	Missense	Uncertain Significance	30400955	Exon 26		No
APOB_0165	c.10037G>T	p.Ser3346Ile	APOB	1	SNV	Missense	Uncertain Significance	37108800	Exon 26		Yes
APOB_0166	c.10032A>C	p.Lys3344Asn	APOB	1	SNV	Missense	Uncertain Significance	36648309	Exon 26		Yes
APOB_0167	c.10030A>G	p.Lys3344Glu	APOB	1	SNV	Missense	Pathogenic	37108800	Exon 26		Yes
APOB_0168	c.10025C>T	p.Ser3342Phe	APOB	1	SNV	Missense	Uncertain Significance	34875256	Exon 26		Yes
APOB_0169	c.9937C>A	p.Leu3313Ile	APOB	1	SNV	Missense	Uncertain Significance	32489792	Exon 26	Corneal arcus, xanthomas	Yes
APOB_0170	c.9883T>C	p.Tyr3295His	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 26		Yes
APOB_0171	c.9880T>C	p.Ser3294Pro	APOB	1	SNV	Missense	Benign	30076208	Exon 26		Yes
APOB_0172	c.9871C>T	p.Arg3291Cys	APOB	1	SNV	Missense	Uncertain Significance	36426223	Exon 26		Yes
APOB_0173	c.9868G>A	p.Val3290Ile	APOB	2	SNV	Missense	Uncertain Significance	35137788	Exon 26		Yes
APOB_0174	c.9856C>A	p.Leu3286Ile	APOB	1	SNV	Missense	Uncertain Significance	9254062	Exon 26		No
APOB_0175	c.9838A>G	p.Met3280Val	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		No
APOB_0176	c.9835A>G	p.Ser3279Gly	APOB	1	SNV	Missense	Benign	29172679	Exon 26		Yes
APOB_0177	c.9770A>G	p.Asn3257Ser	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 26		Yes
APOB_0178	c.9733A>G	p.Thr3245Ala	APOB	1	SNV	Missense	Uncertain Significance	36190978	Exon 26		No
APOB_0179	c.9727C>T	p.Pro3243Ser	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 26		Yes
APOB_0180	c.9721G>A	p.Glu3241Lys	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		Yes
APOB_0181	c.9717C>G	p.His3239Gln	APOB	1	SNV	Missense	Uncertain Significance	9254062	Exon 26		No
APOB_0182	c.9700A>G	p.Lys3234Glu	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 26	Corneal arcus, xanthomas, cardiovascular disease	No
APOB_0183	c.9694A>G	p.Lys3232Glu	APOB	1	SNV	Missense	Uncertain Significance	32115487	Exon 26		Yes
APOB_0184	c.9673G>T	p.Glu3225*	APOB	1	SNV	Nonsense	Pathogenic	17570373	Exon 26		No
APOB_0185	c.9639C>A	p.Asn3213Lys	APOB	1	SNV	Missense	Uncertain Significance	23375686	Exon 26		Yes
APOB_0186	c.9632dup	p.Asn3211Lysfs*14	APOB	1	Duplication	Frameshift	Likely Pathogenic	16390683	Exon 26		No
APOB_0187	c.9608C>A	p.Ser3203Tyr	APOB	1	SNV	Missense	Uncertain Significance	21408211	Exon 26		No
APOB_0188	c.9547A>G	p.Arg3183Gly	APOB	1	SNV	Missense	Uncertain Significance	36329474	Exon 26		Yes
APOB_0189	c.9544C>A	p.His3182Asn	APOB	1	SNV	Missense	Uncertain Significance	22534770	Exon 26		Yes
APOB_0190	c.9533A>C	p.Lys3178Thr	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		No
APOB_0191	c.9491C>T	p.Thr3164Met	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		Yes
APOB_0192	c.9466dup	p.Thr3156Asnfs*15	APOB	1	Duplication	Frameshift	Pathogenic	25839937	Exon 26		No
APOB_0193	c.9448T>C	p.Phe3150Leu	APOB	1	SNV	Missense	Uncertain Significance	33137929	Exon 26		Yes
APOB_0194	c.9336G>T	p.Glu3112Asp	APOB	1	SNV	Missense	Uncertain Significance	36329474	Exon 26		Yes
APOB_0195	c.9294C>T	p.Tyr3098=	APOB	1	SNV	Silent	Uncertain Significance	32770674	Exon 26		Yes
APOB_0196	c.9293A>G	p.Tyr3098Cys	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 26		Yes
APOB_0197	c.9242G>A	p.Ser3081Asn	APOB	1	SNV	Missense	Uncertain Significance	34650182	Exon 26		Yes
APOB_0198	c.9242G>C	p.Ser3081Thr	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 26		Yes
APOB_0199	c.9226C>A	p.Leu3076Met	APOB	1	SNV	Missense	Likely Benign		Exon 26		Yes
APOB_0200	c.9221A>G	p.Tyr3074Cys	APOB	1	SNV	Missense	Uncertain Significance	28951076	Exon 26		Yes
APOB_0201	c.9206A>G	p.Asp3069Gly	APOB	1	SNV	Missense	Uncertain Significance	30827231	Exon 26		No
APOB_0202	c.9200del	p.Lys3067Argfs*2	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0203	c.9194C>G	p.Thr3065Arg	APOB	1	SNV	Missense	Uncertain Significance	20538126	Exon 26		No
APOB_0204	c.9175C>T	p.Arg3059Cys	APOB	12	SNV	Missense	Uncertain Significance	22408029, 33269076	Exon 26		Yes
APOB_0205	c.9152_9155del	p.Asn3051Metfs*5	APOB	1	Deletion	Frameshift	Pathogenic	15984016	Exon 26		No
APOB_0206	c.9152del	p.Asn3051Thrfs*6	APOB	1	Deletion	Frameshift	Pathogenic	15984016	Exon 26		No
APOB_0207	c.9140C>G	p.Thr3047Arg	APOB	1	SNV	Missense	Likely Benign	21033204	Exon 26		Yes
APOB_0208	c.9109C>G	p.Leu3037Val	APOB	1	SNV	Missense	Uncertain Significance	25839937	Exon 26		No
APOB_0209	c.9107C>A	p.Ser3036Tyr	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		No
APOB_0210	c.9105T>C	p.Asn3035=	APOB	1	SNV	Silent	Likely Benign		Exon 26		Yes
APOB_0211	c.9104dup	p.Asn3035Lysfs*11	APOB	1	Duplication	Frameshift	Pathogenic	25618028	Exon 26		No
APOB_0212	c.8953A>G	p.Lys2985Glu	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		No
APOB_0213	c.8936G>A	p.Gly2979Asp	APOB	1	SNV	Missense	Uncertain Significance	36329474	Exon 26		No
APOB_0214	c.8891A>G	p.Asn2964Ser	APOB	1	SNV	Missense	Uncertain Significance	32115487	Exon 26		Yes
APOB_0215	c.8889C>T	p.Ile2963=	APOB	1	SNV	Silent	Likely Benign	30694837	Exon 26		Yes
APOB_0216	c.8882A>G	p.Asn2961Ser	APOB	1	SNV	Missense	Uncertain Significance	31153816	Exon 26		Yes
APOB_0217	c.8849T>C	p.Ile2950Thr	APOB	1	SNV	Missense	Uncertain Significance	32115487	Exon 26		Yes
APOB_0218	c.8799C>A	p.Cys2933*	APOB	1	SNV	Nonsense	Pathogenic	27179706	Exon 26		No
APOB_0219	c.8771del	p.Ser2924Leufs*27	APOB	1	Deletion	Frameshift	Likely Pathogenic	18710658	Exon 26		No
APOB_0220	c.8719C>T	p.Arg2907Cys	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		Yes
APOB_0221	c.8550T>G	p.Ile2850Met	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 26		Yes
APOB_0222	c.8502C>G	p.Tyr2834*	APOB	1	SNV	Nonsense	Pathogenic	19060634	Exon 26		No
APOB_0223	c.8501A>C	p.Tyr2834Ser	APOB	2	SNV	Missense	Uncertain Significance	27932355	Exon 26		No
APOB_0224	c.8462C>T	p.Pro2821Leu	APOB	1	SNV	Missense	Likely Benign	36499307	Exon 26		Yes
APOB_0225	c.8399_8436del	p.Lys2800Thrfs*6	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0226	c.8397_8433del	p.Lys2800Hisfs*13	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0227	c.8392G>A	p.Glu2798Lys	APOB	1	SNV	Missense	Uncertain Significance	37108800	Exon 26		No
APOB_0228	c.8368G>A	p.Ala2790Thr	APOB	1	SNV	Missense	Uncertain Significance	35137788	Exon 26		Yes
APOB_0229	c.8353A>C	p.Asn2785His	APOB	1	SNV	Missense	Benign	36190978	Exon 26		Yes
APOB_0230	c.8287A>C	p.Lys2763Gln	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		Yes
APOB_0231	c.8266G>T	p.Gly2756Cys	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 26		No
APOB_0232	c.8245A>G	p.Thr2749Ala	APOB	1	SNV	Missense	Uncertain Significance	31371270	Exon 26		No
APOB_0234	c.8216C>T	p.Pro2739Leu	APOB	1	SNV	Missense	Benign	19200547	Exon 26		Yes
APOB_0233	c.8216C>A	p.Pro2739Gln	APOB	1	SNV	Missense	Uncertain Significance	30270084	Exon 26		Yes
APOB_0235	c.8213T>A	p.Ile2738Lys	APOB	1	SNV	Missense	Uncertain Significance	35052492	Exon 26		No
APOB_0236	c.8198T>C	p.Val2733Ala	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		Yes
APOB_0237	c.8148C>T	p.Ile2716=	APOB	1	SNV	Silent	Benign	22095935	Exon 26		Yes
APOB_0238	c.8134C>T	p.Arg2712Cys	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		Yes
APOB_0239	c.8112G>A	p.Ala2704=	APOB	1	SNV	Silent	Uncertain Significance	30333156	Exon 26		Yes
APOB_0240	c.8111C>T	p.Ala2704Val	APOB	1	SNV	Missense	Uncertain Significance	30389453	Exon 26		Yes
APOB_0241	c.8039T>A	p.Leu2680Gln	APOB	1	SNV	Missense	Uncertain Significance	22534770	Exon 26		No
APOB_0242	c.7976C>T	p.Pro2659Leu	APOB	1	SNV	Missense	Uncertain Significance	37119068	Exon 26		Yes
APOB_0243	c.7975C>T	p.Pro2659Ser	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		No
APOB_0244	c.7853T>C	p.Ile2618Thr	APOB	1	SNV	Missense	Uncertain Significance	24234650	Exon 26		Yes
APOB_0245	c.7828G>C	p.Ala2610Pro	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		No
APOB_0246	c.7729A>C	p.Met2577Leu	APOB	1	SNV	Missense	Uncertain Significance	20538126	Exon 26		Yes
APOB_0247	c.7724A>T	p.Lys2575Ile	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 26		Yes
APOB_0248	c.7711C>T	p.Gln2571*	APOB	1	SNV	Nonsense	Pathogenic	27179706	Exon 26		No
APOB_0249	c.7696G>A	p.Glu2566Lys	APOB	59	SNV	Missense	Uncertain Significance	22095935, 26036859, 26415676, Show More >>	Exon 26	Coronary artery disease, peripheral vascular disease	Yes
APOB_0250	c.7640T>C	p.Val2547Ala	APOB	1	SNV	Missense	Uncertain Significance	36648309	Exon 26		No
APOB_0251	c.7619G>T	p.Gly2540Val	APOB	1	SNV	Missense	Likely Benign	36499307	Exon 26		Yes
APOB_0252	c.7615G>A	p.Val2539Ile	APOB	1	SNV	Missense	Likely Benign	36648309	Exon 26		Yes
APOB_0253	c.7612C>T	p.Leu2538=	APOB	1	SNV	Silent	Likely Benign	30333156	Exon 26		Yes
APOB_0254	c.7600C>T	p.Arg2534*	APOB	1	SNV	Nonsense	Pathogenic	16002743	Exon 26		Yes
APOB_0255	c.7587G>A	p.Gln2529=	APOB	1	SNV	Silent	Uncertain Significance	32770674	Exon 26		Yes
APOB_0256	c.7585C>A	p.Gln2529Lys	APOB	1	SNV	Missense	Uncertain Significance	30270084	Exon 26		Yes
APOB_0257	c.7579G>C	p.Asp2527His	APOB	1	SNV	Missense	Uncertain Significance	39595952	Exon 26		No
APOB_0258	c.7565G>A	p.Arg2522Gln	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 26		Yes
APOB_0259	c.7564C>T	p.Arg2522*	APOB	1	SNV	Nonsense	Pathogenic	9543100	Exon 26		Yes
APOB_0260	c.7545C>T	p.Thr2515=	APOB	1	SNV	Silent	Benign	19200547	Exon 26		Yes
APOB_0261	c.7537C>T	p.Arg2513*	APOB	1	SNV	Nonsense	Pathogenic	28733173	Exon 26		Yes
APOB_0262	c.7505C>A	p.Ser2502*	APOB	1	SNV	Nonsense	Pathogenic	16390683	Exon 26		No
APOB_0263	c.7454A>G	p.Gln2485Arg	APOB	1	SNV	Missense	Uncertain Significance	23775634	Exon 26		Yes
APOB_0264	c.7397T>A	p.Leu2466*	APOB	1	SNV	Nonsense	Likely Pathogenic	35999587	Exon 26		No
APOB_0265	c.7387G>T	p.Ala2463Ser	APOB	1	SNV	Missense	Uncertain Significance	22996961	Exon 26		No
APOB_0266	c.7367C>T	p.Ala2456Val	APOB	1	SNV	Missense	Uncertain Significance	25837208	Exon 26		No
APOB_0267	c.7367C>A	p.Ala2456Asp	APOB	1	SNV	Missense	Benign	30076208	Exon 26		Yes
APOB_0268	c.7336G>A	p.Val2446Met	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 26		Yes
APOB_0269	c.7331G>A	p.Arg2444His	APOB	1	SNV	Missense	Likely Benign	30526649	Exon 26		Yes
APOB_0270	c.7285T>A	p.Ser2429Thr	APOB	2	SNV	Missense	Uncertain Significance	26415676	Exon 26		Yes
APOB_0272	c.7242A>T	p.Glu2414Asp	APOB	1	SNV	Missense	Likely Benign	30694837	Exon 26		No
APOB_0271	c.7242A>C	p.Glu2414Asp	APOB	1	SNV	Missense	Likely Benign	30694837	Exon 26		Yes
APOB_0273	c.7231del	p.Thr2411Hisfs*13	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0274	c.7223C>T	p.Ser2408Phe	APOB	2	SNV	Missense	Uncertain Significance	27932355	Exon 26		Yes
APOB_0275	c.7210C>A	p.Leu2404Ile	APOB	1	SNV	Missense	Uncertain Significance	21408211	Exon 26		No
APOB_0276	c.7193A>T	p.Asp2398Val	APOB	1	SNV	Missense	Uncertain Significance	30389453	Exon 26		No
APOB_0277	c.7167del	p.Phe2390Leufs*34	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0278	c.7161del	p.Asp2388Ilefs*36	APOB	1	Deletion	Frameshift	Likely Pathogenic	18710658	Exon 26		No
APOB_0279	c.7151_7155del	p.Val2384Aspfs*6	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0280	c.7138G>T	p.Val2380Phe	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 26		No
APOB_0281	c.7134C>A	p.Ser2378Arg	APOB	1	SNV	Missense	Uncertain Significance	26036859	Exon 26
APOB_0282	c.7126A>T	p.Lys2376*	APOB	1	SNV	Nonsense	Likely Pathogenic	29192238	Exon 26		No
APOB_0283	c.7118C>A	p.Thr2373Asn	APOB	1	SNV	Missense	Uncertain Significance	21408211	Exon 26		No
APOB_0284	c.7106A>G	p.Lys2369Arg	APOB	1	SNV	Missense	Uncertain Significance	36329474	Exon 26		No
APOB_0285	c.7074G>A	p.Met2358Ile	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		No
APOB_0286	c.7057C>T	p.Gln2353*	APOB	1	SNV	Nonsense	Uncertain Significance	33418990	Exon 26		No
APOB_0287	c.7043A>G	p.Tyr2348Cys	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 26		Yes
APOB_0288	c.6943G>T	p.Glu2315*	APOB	1	SNV	Nonsense	Likely Pathogenic	36644201	Exon 26		No
APOB_0289	c.6943G>A	p.Glu2315Lys	APOB	1	SNV	Missense	Uncertain Significance	36644201	Exon 26		Yes
APOB_0290	c.6937A>G	p.Ile2313Val	APOB	1	SNV	Missense	Benign	29036232	Exon 26		Yes
APOB_0291	c.6936_6937inv	p.Ile2313Val	APOB	1	Inversion	Missense	Benign	29036232	Exon 26		Yes
APOB_0292	c.6936C>T	p.Asp2312=	APOB	1	SNV	Silent	Benign	19762784	Exon 26		Yes
APOB_0293	c.6913A>G	p.Ile2305Val	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		No
APOB_0294	c.6895G>C	p.Asp2299His	APOB	1	SNV	Missense	Benign	29572815	Exon 26		Yes
APOB_0295	c.6845C>G	p.Ala2282Gly	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 26		No
APOB_0296	c.6835C>T	p.Gln2279*	APOB	1	SNV	Nonsense	Pathogenic	16390683	Exon 26		Yes
APOB_0297	c.6796C>A	p.Leu2266Met	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		No
APOB_0298	c.6731G>A	p.Ser2244Asn	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		Yes
APOB_0299	c.6718A>T	p.Lys2240*	APOB	1	SNV	Nonsense	Pathogenic	28733173	Exon 26		No
APOB_0300	c.6714dup	p.Asn2239*	APOB	1	Duplication	Frameshift	Pathogenic	26073401	Exon 26		No
APOB_0301	c.6655C>T	p.Arg2219Cys	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 26		Yes
APOB_0302	c.6639_6641del	p.Asp2213del	APOB	7	Deletion	Deletion	Uncertain Significance	23680767, 24987033, 26036859, Show More >>	Exon 26		No
APOB_0303	c.6637G>A	p.Asp2213Asn	APOB	2	SNV	Missense	Uncertain Significance	35137788	Exon 26		No
APOB_0304	c.6634del	p.Asp2213Metfs*8	APOB	1	Deletion	Frameshift	Pathogenic	24001780	Exon 26		No
APOB_0305	c.6630_6631del	p.Leu2212*	APOB	1	Deletion	Nonsense	Pathogenic	30782561	Exon 26		No
APOB_0306	c.6624dup	p.Leu2209Ilefs*5	APOB	1	Duplication	Frameshift	Pathogenic	37384046	Exon 26		No
APOB_0307	c.6595G>A	p.Ala2199Thr	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		Yes
APOB_0308	c.6557_6560del	p.Lys2186Ilefs*8	APOB	1	Deletion	Frameshift	Likely Pathogenic	38909121	Exon 26		No
APOB_0309	c.6558del	p.Asp2187Ilefs*8	APOB	1	Deletion	Frameshift	Pathogenic	9568744	Exon 26		No
APOB_0310	c.6544G>T	p.Asp2182Tyr	APOB	1	SNV	Missense	Uncertain Significance	25618028	Exon 26		No
APOB_0311	c.6543del	p.Phe2181Leufs*14	APOB	1	Deletion	Frameshift	Likely Pathogenic	22095935	Exon 26		No
APOB_0312	c.6539A>T	p.Gln2180Leu	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 26		No
APOB_0313	c.6538C>A	p.Gln2180Lys	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 26		No
APOB_0314	c.6480A>T	p.Leu2160Phe	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 26		No
APOB_0315	c.6469C>T	p.Gln2157*	APOB	1	SNV	Nonsense	Likely Pathogenic	22095935	Exon 26		No
APOB_0316	c.6316C>T	p.Gln2106*	APOB	1	SNV	Nonsense	Pathogenic	29572815	Exon 26		No
APOB_0317	c.6284T>A	p.Val2095Glu	APOB	1	SNV	Missense	Uncertain Significance	26415676	Exon 26		No
APOB_0318	c.6253C>T	p.Arg2085*	APOB	1	SNV	Nonsense	Pathogenic	38710625	Exon 26		Yes
APOB_0319	c.6240T>A	p.Tyr2080*	APOB	1	SNV	Nonsense	Pathogenic	8081360	Exon 26		No
APOB_0320	c.6194A>G	p.Asp2065Gly	APOB	1	SNV	Missense	Uncertain Significance	32115487	Exon 26		No
APOB_0321	c.6136G>A	p.Val2046Ile	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		Yes
APOB_0322	c.6115_6116insAATATCATTGA	p.Ala2039Glufs*4	APOB	1	Insertion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0323	c.6110T>C	p.Ile2037Thr	APOB	1	SNV	Missense	Uncertain Significance	21122650	Exon 26		Yes
APOB_0324	c.6034C>T	p.Arg2012*	APOB	1	SNV	Nonsense	Pathogenic	30782561	Exon 26		Yes
APOB_0325	c.5943G>A	p.Trp1981*	APOB	1	SNV	Nonsense	Pathogenic	30939045	Exon 26		No
APOB_0326	c.5926G>T	p.Glu1976*	APOB	1	SNV	Nonsense	Pathogenic	37566928	Exon 26		Yes
APOB_0327	c.5905A>C	p.Ser1969Arg	APOB	1	SNV	Missense	Uncertain Significance	17158591	Exon 26		No
APOB_0328	c.5865del	p.Ser1956Leufs*62	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 26		No
APOB_0329	c.5856T>C	p.His1952=	APOB	1	SNV	Silent	Uncertain Significance	32770674	Exon 26		Yes
APOB_0330	c.5822C>T	p.Thr1941Ile	APOB	5	SNV	Missense	Uncertain Significance	34316823	Exon 26	Corneal arcus, xanthelasmas, xanthomas, angina, coronary artery disease, cabg, myocardial infarction, peripheral vascular disease	Yes
APOB_0331	c.5768A>G	p.His1923Arg	APOB	1	SNV	Missense	Benign	21408211	Exon 26		Yes
APOB_0332	c.5756T>C	p.Leu1919Pro	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		No
APOB_0333	c.5741A>G	p.Asn1914Ser	APOB	1	SNV	Missense	Benign	24234650	Exon 26		Yes
APOB_0334	c.5722G>A	p.Asp1908Asn	APOB	1	SNV	Missense	Uncertain Significance	36769678	Exon 26		Yes
APOB_0335	c.5690G>A	p.Arg1897His	APOB	2	SNV	Missense	Uncertain Significance	24234650, 29233637	Exon 26	Xanthomas	Yes
APOB_0336	c.5654A>G	p.Tyr1885Cys	APOB	1	SNV	Missense	Uncertain Significance	26036859	Exon 26		Yes
APOB_0337	c.5611G>A	p.Asp1871Asn	APOB	1	SNV	Missense	Uncertain Significance	21408211	Exon 26		No
APOB_0338	c.5600G>A	p.Arg1867Gln	APOB	1	SNV	Missense	Uncertain Significance	36769882	Exon 26		Yes
APOB_0339	c.5599C>T	p.Arg1867Trp	APOB	1	SNV	Missense	Uncertain Significance	24234650	Exon 26		Yes
APOB_0340	c.5566_5567del	p.Val1856Cysfs*2	APOB	1	Deletion	Frameshift	Pathogenic	38710625	Exon 26		No
APOB_0341	c.5564dup	p.Val1856Cysfs*3	APOB	1	Duplication	Frameshift	Pathogenic	38710625	Exon 26		Yes
APOB_0342	c.5560G>A	p.Asp1854Asn	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		Yes
APOB_0343	c.5463del	p.His1822Metfs*6	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		Yes
APOB_0344	c.5409C>A	p.Tyr1803*	APOB	1	SNV	Nonsense	Likely Pathogenic	35999587	Exon 26		No
APOB_0345	c.5350_5363del	p.Val1784Thrfs*12	APOB	1	Deletion	Frameshift	Pathogenic	28733173	Exon 26		No
APOB_0346	c.5333A>G	p.Lys1778Arg	APOB	1	SNV	Missense	Uncertain Significance	30827231	Exon 26		No
APOB_0347	c.5290_5291dup	p.Asp1765Trpfs*31	APOB	1	Duplication	Frameshift	Pathogenic	17570373	Exon 26		No
APOB_0348	c.5269C>G	p.Leu1757Val	APOB	1	SNV	Missense	Uncertain Significance	36411388	Exon 26		Yes
APOB_0349	c.5263_5266del	p.Asn1755Valfs*2	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 26		No
APOB_0350	c.5258A>G	p.His1753Arg	APOB	1	SNV	Missense	Uncertain Significance	23340422	Exon 26		No
APOB_0351	c.5238T>A	p.Tyr1746*	APOB	1	SNV	Nonsense	Likely Pathogenic	18710658	Exon 26		No
APOB_0352	c.5238T>G	p.Tyr1746*	APOB	1	SNV	Nonsense	Likely Pathogenic	18710658	Exon 26		Yes
APOB_0353	c.5137G>T	p.Ala1713Ser	APOB	2	SNV	Missense	Uncertain Significance	32770674	Exon 26		Yes
APOB_0354	c.5066G>A	p.Arg1689His	APOB	4	SNV	Missense	Uncertain Significance	26415676, 32770674	Exon 26		Yes
APOB_0355	c.5052A>T	p.Leu1684Phe	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		No
APOB_0356	c.4951G>A	p.Gly1651Arg	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		Yes
APOB_0357	c.4871T>G	p.Leu1624Arg	APOB	1	SNV	Missense	Uncertain Significance	32276786	Exon 26		No
APOB_0358	c.4867G>A	p.Gly1623Ser	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 26		Yes
APOB_0359	c.4852T>A	p.Ser1618Thr	APOB	1	SNV	Missense	Uncertain Significance	35910211	Exon 26		Yes
APOB_0360	c.4850G>A	p.Gly1617Glu	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		Yes
APOB_0361	c.4838G>A	p.Ser1613Asn	APOB	1	SNV	Missense	Uncertain Significance	28772107	Exon 26		No
APOB_0362	c.4825T>C	p.Leu1609=	APOB	1	SNV	Silent	Likely Benign		Exon 26		Yes
APOB_0364	c.4818C>A	p.Tyr1606*	APOB	1	SNV	Nonsense	Pathogenic	25618028	Exon 26		No
APOB_0363	c.4818C>G	p.Tyr1606*	APOB	1	SNV	Nonsense	Pathogenic	25618028	Exon 26		No
APOB_0365	c.4800_4801insC	p.Glu1601Argfs*5	APOB	1	Insertion	Frameshift	Likely Pathogenic	18710658	Exon 26		No
APOB_0366	c.4796G>A	p.Arg1599His	APOB	1	SNV	Missense	Uncertain Significance	36980993	Exon 26		Yes
APOB_0367	c.4780C>A	p.Gln1594Lys	APOB	1	SNV	Missense	Uncertain Significance	36329474	Exon 26		Yes
APOB_0368	c.4733A>G	p.Tyr1578Cys	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 26		No
APOB_0369	c.4724A>G	p.Asn1575Ser	APOB	1	SNV	Missense	Uncertain Significance	36190978	Exon 26		Yes
APOB_0370	c.4715_4716del	p.Ser1572*	APOB	1	Deletion	Nonsense	Pathogenic	25618028	Exon 26		No
APOB_0371	c.4709T>A	p.Leu1570*	APOB	1	SNV	Nonsense	Pathogenic	21122650	Exon 26		No
APOB_0372	c.4709T>C	p.Leu1570Ser	APOB	1	SNV	Missense	Uncertain Significance	33418990	Exon 26		No
APOB_0373	c.4675_4682del	p.Ala1559Lysfs*3	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 26		No
APOB_0374	c.4672A>G	p.Thr1558Ala	APOB	1	SNV	Missense	Uncertain Significance	36769882	Exon 26		No
APOB_0375	c.4651C>T	p.Gln1551*	APOB	1	SNV	Nonsense	Pathogenic	37138899	Exon 26		Yes
APOB_0376	c.4636T>A	p.Ser1546Thr	APOB	1	SNV	Missense	Uncertain Significance	33111339	Exon 26		Yes
APOB_0377	c.4611T>A	p.Tyr1537*	APOB	1	SNV	Nonsense	Pathogenic	16390683	Exon 26		No
APOB_0378	c.4591A>C	p.Asn1531His	APOB	1	SNV	Missense	Uncertain Significance	30076208	Exon 26		Yes
APOB_0379	c.4532C>T	p.Thr1511Ile	APOB	1	SNV	Missense	Uncertain Significance	33303402	Exon 26		Yes
APOB_0380	c.4503T>G	p.Tyr1501*	APOB	1	SNV	Nonsense	Pathogenic	16390683	Exon 26		Yes
APOB_0381	c.4473_4474del	p.Arg1491Serfs*7	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 26		No
APOB_0383	c.4438_4439insA	p.Phe1480Tyrfs*8	APOB	1	Insertion	Frameshift	Pathogenic	30939045	Exon 26		No
APOB_0382	c.4439_4440del	p.Phe1480Cysfs*7	APOB	1	Deletion	Frameshift	Pathogenic	30939045	Exon 26		No
APOB_0384	c.4429C>T	p.Gln1477*	APOB	1	SNV	Nonsense	Pathogenic	16390683	Exon 26		Yes
APOB_0385	c.4412T>G	p.Leu1471Trp	APOB	7	SNV	Missense	Uncertain Significance	35910211	Exon 26		No
APOB_0386	c.4394T>C	p.Met1465Thr	APOB	2	SNV	Missense	Uncertain Significance	35910211	Exon 26		No
APOB_0387	c.4375A>G	p.Ser1459Gly	APOB	2	SNV	Missense	Uncertain Significance	35910211	Exon 26		Yes
APOB_0388	c.4364T>A	p.Phe1455Tyr	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 26		No
APOB_0389	c.4352del	p.Gly1451Valfs*3	APOB	1	Deletion	Frameshift	Pathogenic	38710625	Exon 26		No
APOB_0390	c.4304del	p.Ile1435Thrfs*6	APOB	1	Deletion	Frameshift	Pathogenic	15585207	Exon 26		Yes
APOB_0391	c.4298C>T	p.Ser1433Leu	APOB	1	SNV	Missense	Uncertain Significance	33418990	Exon 26		Yes
APOB_0392	c.4283A>G	p.His1428Arg	APOB	1	SNV	Missense	Uncertain Significance	22658148	Exon 26		No
APOB_0393	c.4274C>T	p.Ser1425Phe	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 26		Yes
APOB_0394	c.4265G>A	p.Cys1422Tyr	APOB	1	SNV	Missense	Uncertain Significance	21502677	Exon 26		Yes
APOB_0395	c.4234T>C	p.Tyr1412His	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 26		No
APOB_0396	c.4217-1G>T	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	28733173	Intron 25		No
APOB_0397	c.4211del	p.Val1404Glyfs*28	APOB	1	Deletion	Frameshift	Pathogenic	25618028	Exon 25		No
APOB_0398	c.4187_4188del	p.Val1396Glyfs*2	APOB	1	Deletion	Frameshift	Likely Pathogenic	18710658	Exon 25		No
APOB_0399	c.4163G>A	p.Arg1388His	APOB	1	SNV	Missense	Benign	32115487	Exon 25		Yes
APOB_0400	c.4162C>T	p.Arg1388Cys	APOB	2	SNV	Missense	Uncertain Significance	35910211	Exon 25		Yes
APOB_0401	c.4143C>A	p.Asp1381Glu	APOB	1	SNV	Missense	Uncertain Significance	36190978	Exon 25		Yes
APOB_0402	c.4111G>A	p.Ala1371Thr	APOB	1	SNV	Missense	Uncertain Significance	30122538	Exon 25		Yes
APOB_0403	c.4099_4100insG	p.Tyr1367*	APOB	1	Insertion	Nonsense	Pathogenic	17570373	Exon 25		No
APOB_0405	c.4089C>A	p.Tyr1363*	APOB	1	SNV	Nonsense	Pathogenic	17043676	Exon 25		Yes
APOB_0404	c.4089C>G	p.Tyr1363*	APOB	1	SNV	Nonsense	Pathogenic	17043676	Exon 25		Yes
APOB_0406	c.4006C>T	p.Gln1336*	APOB	1	SNV	Nonsense	Pathogenic	16002743	Exon 25		Yes
APOB_0407	c.3997C>T	p.Arg1333*	APOB	1	SNV	Nonsense	Pathogenic	28733173	Exon 25		Yes
APOB_0408	c.3961del	p.Leu1321Serfs*36	APOB	1	Deletion	Frameshift	Likely Pathogenic	25839937	Exon 25		No
APOB_0409	c.3935T>C	p.Met1312Thr	APOB	1	SNV	Missense	Uncertain Significance	36190978	Exon 25		Yes
APOB_0410	c.3918del	p.Ser1307Profs*4	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 25		No
APOB_0411	c.3895C>T	p.Pro1299Ser	APOB	1	SNV	Missense	Uncertain Significance	26699486	Exon 25		No
APOB_0412	c.3851G>A	p.Arg1284Gln	APOB	1	SNV	Missense	Uncertain Significance	36648309	Exon 25		Yes
APOB_0413	c.3843-2A>G	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	28733173	Intron 24		No
APOB_0414	c.3842+249G>A	Intronic	APOB	1	SNV	Intronic	Likely Benign	22095935	Intron 24		No
APOB_0415	c.3842+82T>A	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 24		No
APOB_0416	c.3842+2T>C	Intronic	APOB	1	SNV	Splice donor	Pathogenic	38710625	Intron 24		No
APOB_0417	c.3842+1G>A	Intronic	APOB	1	SNV	Splice donor	Pathogenic	31629702	Intron 24		No
APOB_0418	c.3829C>T	p.Leu1277Phe	APOB	1	SNV	Missense	Uncertain Significance	34998859	Exon 24		Yes
APOB_0419	c.3741T>A	p.Tyr1247*	APOB	1	SNV	Nonsense	Pathogenic	15894400	Exon 24		No
APOB_0420	c.3740A>G	p.Tyr1247Cys	APOB	1	SNV	Missense	Uncertain Significance	24234650	Exon 24		Yes
APOB_0421	c.3711G>A	p.Trp1237*	APOB	1	SNV	Nonsense	Pathogenic	25618028	Exon 24		No
APOB_0422	c.3700A>G	p.Met1234Val	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 24		No
APOB_0424	c.3697-1G>C	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	28733173	Intron 23		No
APOB_0423	c.3697-1G>A	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	25618028	Intron 23		No
APOB_0425	c.3697-79C>T	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 23		No
APOB_0426	c.3696+1G>T	Intronic	APOB	1	SNV	Splice donor	Pathogenic	32093271	Intron 23		No
APOB_0427	c.3696+1G>C	Intronic	APOB	1	SNV	Splice donor	Pathogenic	32093271	Intron 23		No
APOB_0428	c.3679G>A	p.Gly1227Ser	APOB	1	SNV	Missense	Uncertain Significance	29572815	Exon 23		No
APOB_0429	c.3665C>T	p.Thr1222Ile	APOB	1	SNV	Missense	Uncertain Significance	36980993	Exon 23		Yes
APOB_0430	c.3634C>A	p.Leu1212Met	APOB	1	SNV	Missense	Benign	32489792	Exon 23		Yes
APOB_0431	c.3607A>G	p.Ser1203Gly	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 23		Yes
APOB_0432	c.3600T>A	p.Tyr1200*	APOB	1	SNV	Nonsense	Pathogenic	15984016	Exon 23		Yes
APOB_0433	c.3565del	p.Met1189*	APOB	1	Deletion	Nonsense	Pathogenic	30827231	Exon 23		No
APOB_0434	c.3527T>C	p.Phe1176Ser	APOB	1	SNV	Missense	Uncertain Significance	35910211	Exon 23		No
APOB_0435	c.3524A>C	p.Glu1175Ala	APOB	1	SNV	Missense	Uncertain Significance	34314377	Exon 23	Coronary artery disease, stroke	Yes
APOB_0436	c.3491G>C	p.Arg1164Thr	APOB	2	SNV	Missense	Uncertain Significance	24234650	Exon 22		Yes
APOB_0437	c.3427C>T	p.Pro1143Ser	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 22		Yes
APOB_0439	c.3426G>A	p.Ser1142=	APOB	1	SNV	Silent	Uncertain Significance	30270084	Exon 22		Yes
APOB_0438	c.3426G>T	p.Ser1142=	APOB	1	SNV	Silent	Likely Benign	15910857	Exon 22		No
APOB_0440	c.3383G>A	p.Arg1128His	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 22		Yes
APOB_0441	c.3364G>C	p.Gly1122Arg	APOB	2	SNV	Missense	Uncertain Significance	35910211	Exon 22		No
APOB_0442	c.3365del	p.Gly1122Valfs*63	APOB	1	Deletion	Frameshift	Pathogenic	37138899	Exon 22		No
APOB_0443	c.3337G>C	p.Asp1113His	APOB	1	SNV	Missense	Benign	34650182	Exon 22		Yes
APOB_0444	c.3333-99A>G	Intronic	APOB	1	SNV	Intronic	Likely Benign	22095935	Intron 21		No
APOB_0445	c.3314C>T	p.Ala1105Val	APOB	1	SNV	Missense	Uncertain Significance	37853441	Exon 21		Yes
APOB_0446	c.3279C>G	p.Thr1093=	APOB	1	SNV	Silent	Uncertain Significance	30333156	Exon 21		Yes
APOB_0447	c.3178T>C	p.Leu1060=	APOB	1	SNV	Silent	Uncertain Significance	32770674	Exon 21		Yes
APOB_0448	c.3150A>G	p.Thr1050=	APOB	1	SNV	Silent	Likely Benign	30694837	Exon 21		Yes
APOB_0449	c.3133_3139del	p.Thr1045Leufs*3	APOB	1	Deletion	Frameshift	Pathogenic	25618028	Exon 21		No
APOB_0450	c.3122G>T	p.Gly1041Val	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 21		No
APOB_0451	c.3122-74T>C	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 20		No
APOB_0452	c.3121+120G>A	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 20		No
APOB_0453	c.3077A>C	p.Asp1026Ala	APOB	1	SNV	Missense	Uncertain Significance	18725409	Exon 20		No
APOB_0454	c.3074A>C	p.Glu1025Ala	APOB	1	SNV	Missense	Uncertain Significance	18725409	Exon 20		No
APOB_0455	c.3000-1G>T	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	31629702	Intron 19		No
APOB_0456	c.2992G>T	p.Asp998Tyr	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 19		No
APOB_0457	c.2988_2994del	p.Gly997Profs*3	APOB	1	Deletion	Frameshift	Pathogenic	31564432	Exon 19		No
APOB_0458	c.2981C>T	p.Pro994Leu	APOB	3	SNV	Missense	Uncertain Significance	24234650, 30270084, 32770674	Exon 19	Coronary artery disease, myocardial infarction	Yes
APOB_0459	c.2946del	p.Asn983Thrfs*13	APOB	1	Deletion	Frameshift	Pathogenic	30939045	Exon 19		No
APOB_0460	c.2943C>G	p.Tyr981*	APOB	1	SNV	Nonsense	Pathogenic	29351919	Exon 19		No
APOB_0461	c.2937C>T	p.Gly979=	APOB	1	SNV	Silent	Uncertain Significance	32489792	Exon 19		Yes
APOB_0462	c.2914G>A	p.Gly972Ser	APOB	1	SNV	Missense	Uncertain Significance	20423497	Exon 19		Yes
APOB_0463	c.2890dup	p.Ser964Phefs*49	APOB	1	Duplication	Frameshift	Pathogenic	17570373	Exon 19		No
APOB_0464	c.2889G>A	p.Trp963*	APOB	1	SNV	Nonsense	Pathogenic	28733173	Exon 19		No
APOB_0465	c.2876del	p.Asn959Thrfs*15	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 19		No
APOB_0466	c.2863C>T	p.Pro955Ser	APOB	4	SNV	Missense	Uncertain Significance	27932355, 32770674	Exon 19		Yes
APOB_0467	c.2855del	p.Val952Glyfs*22	APOB	1	Deletion	Frameshift	Likely Pathogenic	34340953	Exon 19		No
APOB_0468	c.2854G>C	p.Val952Leu	APOB	1	SNV	Missense	Likely Benign	27206948	Exon 19		No
APOB_0469	c.2853G>A	p.Glu951=	APOB	1	SNV	Silent	Uncertain Significance	28475941	Exon 19		Yes
APOB_0470	c.2841C>T	p.Thr947=	APOB	1	SNV	Silent	Uncertain Significance	22095935	Exon 19		Yes
APOB_0471	c.2828A>G	p.His943Arg	APOB	1	SNV	Missense	Uncertain Significance	29353225	Exon 19		Yes
APOB_0472	c.2817-2A>C	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	36329474	Intron 18		Yes
APOB_0473	c.2817-1223C>A	Intronic	APOB	1	SNV	Intronic	Benign	21862702	Intron 18		No
APOB_0474	c.2816+336T>C	Intronic	APOB	1	SNV	Intronic	Benign	18978339	Intron 18		No
APOB_0475	c.2816G>A	p.Gly939Asp	APOB	1	SNV	Missense	Uncertain Significance	20423497	Exon 18		No
APOB_0476	c.2786dup	p.Arg931Glufs*28	APOB	1	Duplication	Frameshift	Pathogenic	17570373	Exon 18		No
APOB_0477	c.2786del	p.Pro929Glnfs*24	APOB	1	Deletion	Frameshift	Pathogenic	38710625	Exon 18		No
APOB_0478	c.2782del	p.Ser928Profs*25	APOB	1	Deletion	Frameshift	Pathogenic	30782561	Exon 18		No
APOB_0479	c.2740C>T	p.His914Tyr	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 18		Yes
APOB_0480	c.2726C>A	p.Ser909*	APOB	1	SNV	Nonsense	Pathogenic	30782561	Exon 18		No
APOB_0481	c.2706C>T	p.Asn902=	APOB	1	SNV	Silent	Benign	22095935	Exon 18		Yes
APOB_0482	c.2706C>A	p.Asn902Lys	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 18		No
APOB_0483	c.2700G>T	p.Gln900His	APOB	1	SNV	Missense	Uncertain Significance	24987033	Exon 18		No
APOB_0484	c.2642T>C	p.Val881Ala	APOB	2	SNV	Missense	Uncertain Significance	35910211	Exon 18		No
APOB_0485	c.2630C>T	p.Pro877Leu	APOB	4	SNV	Missense	Uncertain Significance	23680767, 30333156, 32770674, Show More >>	Exon 18		Yes
APOB_0486	c.2604+15G>C	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 17		Yes
APOB_0487	c.2604+1G>A	Intronic	APOB	1	SNV	Splice donor	Pathogenic	37138899	Intron 17		Yes
APOB_0488	c.2585T>C	p.Val862Ala	APOB	1	SNV	Missense	Uncertain Significance	26036859	Exon 17		Yes
APOB_0489	c.2582G>A	p.Gly861Glu	APOB	1	SNV	Missense	Uncertain Significance	35928446	Exon 17		No
APOB_0490	c.2555del	p.Gly852Glufs*11	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 17		No
APOB_0491	c.2534del	p.Gln845Argfs*18	APOB	1	Deletion	Frameshift	Pathogenic	16002743	Exon 17		No
APOB_0492	c.2533C>T	p.Gln845*	APOB	1	SNV	Nonsense	Pathogenic	27179706	Exon 17		No
APOB_0493	c.2531T>C	p.Leu844Ser	APOB	1	SNV	Missense	Uncertain Significance	30827231	Exon 17		No
APOB_0494	c.2477_2478dup	p.Leu827Phefs*37	APOB	1	Duplication	Frameshift	Likely Pathogenic	36013246	Exon 17		No
APOB_0495	c.2478del	p.Leu827Phefs*36	APOB	1	Deletion	Frameshift	Likely Pathogenic	36013246	Exon 17		No
APOB_0496	c.2459G>T	p.Gly820Val	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 17		No
APOB_0497	c.2398C>A	p.Leu800Met	APOB	1	SNV	Missense	Uncertain Significance	29036232	Exon 16		Yes
APOB_0498	c.2347G>C	p.Glu783Gln	APOB	1	SNV	Missense	Likely Benign	12551903	Exon 16		No
APOB_0499	c.2335A>T	p.Ile779Phe	APOB	1	SNV	Missense	Uncertain Significance	32044282	Exon 16		No
APOB_0500	c.2297_2298del	p.Lys766Ilefs*25	APOB	1	Deletion	Frameshift	Pathogenic	37566928	Exon 16		No
APOB_0501	c.2295G>A	p.Leu765=	APOB	1	SNV	Silent	Uncertain Significance	30270084	Exon 16		Yes
APOB_0502	c.2258G>A	p.Gly753Glu	APOB	1	SNV	Missense	Uncertain Significance	32101375	Exon 16		Yes
APOB_0503	c.2222C>A	p.Thr741Asn	APOB	1	SNV	Missense	Benign		Exon 15		Yes
APOB_0504	c.2204T>A	p.Val735Glu	APOB	1	SNV	Missense	Uncertain Significance	30270084	Exon 15		Yes
APOB_0505	c.2197G>T	p.Val733Phe	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 15		No
APOB_0506	c.2188G>A	p.Val730Ile	APOB	1	SNV	Missense	Benign	22855658	Exon 15		Yes
APOB_0507	c.2172del	p.Gln725Lysfs*10	APOB	1	Deletion	Frameshift	Pathogenic	19056372	Exon 15		No
APOB_0508	c.2170G>T	p.Gly724Cys	APOB	1	SNV	Missense	Uncertain Significance	31629702	Exon 15		Yes
APOB_0509	c.2157del	p.Leu719Phefs*16	APOB	1	Deletion	Frameshift	Likely Pathogenic	34340953	Exon 15		No
APOB_0510	c.2115del	p.Phe705Leufs*30	APOB	1	Deletion	Frameshift	Pathogenic	25618028	Exon 15		No
APOB_0511	c.2085del	p.Gly696Alafs*39	APOB	1	Deletion	Frameshift	Pathogenic	28733173	Exon 15		No
APOB_0512	c.2068-4T>A	Intronic	APOB	2	SNV	Intronic	Uncertain Significance	29870584, 32770674	Intron 14		Yes
APOB_0513	c.2067+1G>T	Intronic	APOB	1	SNV	Splice donor	Likely Pathogenic	34340953	Intron 14		Yes
APOB_0514	c.1922A>G	p.Lys641Arg	APOB	1	SNV	Missense	Uncertain Significance	33111339	Exon 14		Yes
APOB_0515	c.1920C>A	p.Tyr640*	APOB	1	SNV	Nonsense	Pathogenic	29572815	Exon 14		No
APOB_0516	c.1904_1905delinsAA	p.Arg635Gln	APOB	1	Delins	Missense	Uncertain Significance	27932355	Exon 14		No
APOB_0517	c.1902_1903del	p.Arg635Glufs*14	APOB	1	Deletion	Frameshift	Pathogenic	18848826	Exon 14		No
APOB_0518	c.1853C>T	p.Ala618Val	APOB	1	SNV	Missense	Benign	19200547	Exon 14		Yes
APOB_0519	c.1830-1G>A	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	12124991	Intron 13		Yes
APOB_0520	c.1829+2T>G	Intronic	APOB	1	SNV	Splice donor	Pathogenic	30939045	Intron 13		No
APOB_0521	c.1813G>T	p.Glu605*	APOB	1	SNV	Nonsense	Pathogenic	16390683	Exon 13		No
APOB_0522	c.1760A>C	p.Glu587Ala	APOB	1	SNV	Missense	Uncertain Significance	9878414	Exon 13		No
APOB_0523	c.1751A>C	p.Glu584Ala	APOB	1	SNV	Missense	Uncertain Significance	9878414	Exon 13		No
APOB_0524	c.1741C>G	p.Leu581Val	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 13		No
APOB_0525	c.1720_1721del	p.Ile574*	APOB	1	Deletion	Nonsense	Pathogenic	38710625	Exon 13		No
APOB_0526	c.1697T>C	p.Met566Thr	APOB	1	SNV	Missense	Uncertain Significance	36329474	Exon 13		Yes
APOB_0527	c.1678G>T	p.Ala560Ser	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 13		No
APOB_0528	c.1672C>T	p.Arg558*	APOB	1	SNV	Nonsense	Pathogenic	36003908	Exon 13		Yes
APOB_0529	c.1670A>G	p.Lys557Arg	APOB	1	SNV	Missense	Uncertain Significance	37565868	Exon 13		No
APOB_0530	c.1661C>T	p.Pro554Leu	APOB	1	SNV	Missense	Likely Benign		Exon 13		Yes
APOB_0531	c.1652A>C	p.Asp551Ala	APOB	1	SNV	Missense	Uncertain Significance	9878414	Exon 13		No
APOB_0532	c.1648G>C	p.Asp550His	APOB	1	SNV	Missense	Likely Benign	32115487	Exon 13		Yes
APOB_0533	c.1621C>T	p.Gln541*	APOB	1	SNV	Nonsense	Pathogenic	26073401	Exon 13		No
APOB_0534	c.1618G>T	p.Asp540Tyr	APOB	1	SNV	Missense	Uncertain Significance	33892292	Exon 13		No
APOB_0535	c.1618-4G>A	Intronic	APOB	1	SNV	Intronic	Uncertain Significance	31629702	Intron 12		Yes
APOB_0536	c.1617+146C>T	Intronic	APOB	1	SNV	Intronic	Likely Benign	22095935	Intron 12		No
APOB_0537	c.1617+138T>C	Intronic	APOB	1	SNV	Intronic	Uncertain Significance	22095935	Intron 12		No
APOB_0538	c.1594C>T	p.Arg532Trp	APOB	1	SNV	Missense	Benign	36190978	Exon 12		Yes
APOB_0539	c.1495A>G	p.Met499Val	APOB	2	SNV	Missense	Uncertain Significance	33231818, 35137788	Exon 12		No
APOB_0540	c.1493C>A	p.Thr498Asn	APOB	1	SNV	Missense	Uncertain Significance	21408211	Exon 12		No
APOB_0541	c.1471-1G>A	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	17570373	Intron 11		Yes
APOB_0542	c.1468C>T	p.Arg490Trp	APOB	1	SNV	Missense	Pathogenic	18492086	Exon 11		Yes
APOB_0543	c.1447G>A	p.Asp483Asn	APOB	1	SNV	Missense	Likely Pathogenic	12551903	Exon 11		No
APOB_0544	c.1423C>T	p.Gln475*	APOB	1	SNV	Nonsense	Likely Pathogenic	38018368	Exon 11		No
APOB_0545	c.1418del	p.Gln473Argfs*15	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 11		No
APOB_0546	c.1407C>A	p.Tyr469*	APOB	1	SNV	Nonsense	Pathogenic	30782561	Exon 11		No
APOB_0547	c.1402A>G	p.Asn468Asp	APOB	1	SNV	Missense	Uncertain Significance	21502677	Exon 11		Yes
APOB_0548	c.1400C>G	p.Ala467Gly	APOB	1	SNV	Missense	Uncertain Significance	36499307	Exon 11		Yes
APOB_0549	c.1342G>A	p.Ala448Thr	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 10		Yes
APOB_0550	c.1315C>T	p.Arg439*	APOB	1	SNV	Nonsense	Pathogenic	28733173	Exon 10		Yes
APOB_0551	c.1310G>A	p.Arg437His	APOB	1	SNV	Missense	Likely Benign		Exon 10		Yes
APOB_0552	c.1298C>T	p.Ala433Val	APOB	5	SNV	Missense	Uncertain Significance	27932355, 35910211	Exon 10		Yes
APOB_0553	c.1250del	p.Leu417Argfs*29	APOB	1	Deletion	Frameshift	Likely Pathogenic	18710658	Exon 10		No
APOB_0554	c.1241T>G	p.Leu414Arg	APOB	1	SNV	Missense	Uncertain Significance	27206935	Exon 10		No
APOB_0555	c.1223T>C	p.Ile408Thr	APOB	1	SNV	Missense	Benign	29540175	Exon 10		Yes
APOB_0556	c.1199G>A	p.Arg400His	APOB	1	SNV	Missense	Uncertain Significance	24987033	Exon 10		Yes
APOB_0557	c.1183del	p.Leu395Serfs*4	APOB	1	Deletion	Frameshift	Pathogenic	11590210	Exon 10		No
APOB_0558	c.1150C>A	p.Gln384Lys	APOB	1	SNV	Missense	Uncertain Significance	37718180	Exon 10		No
APOB_0559	c.1124G>A	p.Ser375Asn	APOB	1	SNV	Missense	Pathogenic	30782561	Exon 9		Yes
APOB_0560	c.1108C>G	p.Leu370Val	APOB	1	SNV	Missense	Likely Pathogenic	18492086	Exon 9		No
APOB_0561	c.1066A>C	p.Arg356=	APOB	1	SNV	Silent	Uncertain Significance	35457099	Exon 9		No
APOB_0562	c.1064dup	p.Arg356Glufs*5	APOB	1	Duplication	Frameshift	Pathogenic	35457099	Exon 9		No
APOB_0563	c.1059T>C	p.Thr353=	APOB	1	SNV	Silent	Uncertain Significance	35457099	Exon 9		Yes
APOB_0564	c.1052T>G	p.Leu351Arg	APOB	1	SNV	Missense	Likely Pathogenic	35457099	Exon 9		No
APOB_0565	c.1051C>A	p.Leu351Met	APOB	1	SNV	Missense	Likely Pathogenic	20423497	Exon 9		No
APOB_0566	c.1019_1026del	p.Gln340Profs*4	APOB	1	Deletion	Frameshift	Pathogenic	12872264	Exon 9		No
APOB_0567	c.1014_1015del	p.Glu339Alafs*7	APOB	1	Deletion	Frameshift	Pathogenic	17570373	Exon 9		No
APOB_0568	c.961C>T	p.Gln321*	APOB	1	SNV	Nonsense	Pathogenic	38710625	Exon 9		No
APOB_0569	c.922C>G	p.Leu308Val	APOB	1	SNV	Missense	Uncertain Significance	36190978	Exon 9		No
APOB_0570	c.914A>G	p.Lys305Arg	APOB	1	SNV	Missense	Uncertain Significance	37848354	Exon 9		Yes
APOB_0571	c.905-1_905dup	Intronic	APOB	1	Duplication	Splice acceptor	Pathogenic	38710625	Intron 8		Yes
APOB_0572	c.905-15C>G	Intronic	APOB	1	SNV	Intronic	Likely Benign	31629702	Intron 8		Yes
APOB_0573	c.905-99T>A	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 8		No
APOB_0574	c.904+28G>A	Intronic	APOB	1	SNV	Intronic	Uncertain Significance	22095935	Intron 8		No
APOB_0575	c.904+4A>G	Intronic	APOB	1	SNV	Splice region	Pathogenic	38710625	Intron 8		No
APOB_0576	c.904G>A	p.Gly302Ser	APOB	1	SNV	Missense	Uncertain Significance	21862702	Exon 8		No
APOB_0577	c.897T>G	p.Phe299Leu	APOB	1	SNV	Missense	Likely Pathogenic	32044282	Exon 8		No
APOB_0578	c.819-2A>G	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	16390683	Intron 7		Yes
APOB_0579	c.818+5G>A	Intronic	APOB	1	SNV	Splice region	Uncertain Significance	31629702	Intron 7		No
APOB_0580	c.760A>C	p.Lys254Gln	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 7		No
APOB_0581	c.754A>C	p.Lys252Gln	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 7		No
APOB_0582	c.751G>A	p.Ala251Thr	APOB	1	SNV	Missense	Likely Benign	27206948	Exon 7		Yes
APOB_0583	c.741_745del	p.Thr248Glyfs*3	APOB	1	Deletion	Frameshift	Pathogenic	16390683	Exon 7		Yes
APOB_0584	c.701C>T	p.Pro234Leu	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 7		Yes
APOB_0586	c.689G>C	p.Gly230Ala	APOB	1	SNV	Missense	Uncertain Significance	36411388	Exon 6		Yes
APOB_0585	c.689G>T	p.Gly230Val	APOB	4	SNV	Missense	Uncertain Significance	31617323	Exon 6	Xanthomas	Yes
APOB_0587	c.671del	p.Pro224Hisfs*8	APOB	1	Deletion	Frameshift	Likely Pathogenic	25839937	Exon 6		No
APOB_0588	c.641G>T	p.Arg214Leu	APOB	1	SNV	Missense	Uncertain Significance	26415676	Exon 6		Yes
APOB_0589	c.614del	p.Thr205Metfs*27	APOB	1	Deletion	Frameshift	Pathogenic	25618028	Exon 6		No
APOB_0590	c.611C>A	p.Ser204Tyr	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 6		No
APOB_0591	c.602C>T	p.Thr201Ile	APOB	1	SNV	Missense	Uncertain Significance	35999587	Exon 6		Yes
APOB_0592	c.598G>A	p.Ala200Thr	APOB	1	SNV	Missense	Uncertain Significance	24987033	Exon 6		Yes
APOB_0593	c.581C>T	p.Thr194Met	APOB	1	SNV	Missense	Benign	36190978	Exon 6		Yes
APOB_0594	c.537+1G>T	Intronic	APOB	1	SNV	Splice donor	Pathogenic	38710625	Intron 5		Yes
APOB_0595	c.515A>T	p.Glu172Val	APOB	1	SNV	Missense	Uncertain Significance	18710658	Exon 5		No
APOB_0596	c.499C>T	p.Pro167Ser	APOB	1	SNV	Missense	Uncertain Significance	26036859	Exon 5		Yes
APOB_0597	c.436G>A	p.Glu146Lys	APOB	1	SNV	Missense	Uncertain Significance	12124991	Exon 5		No
APOB_0598	c.433C>T	p.Pro145Ser	APOB	1	SNV	Missense	Benign	30076208	Exon 5		Yes
APOB_0599	c.430T>C	p.Tyr144His	APOB	1	SNV	Missense	Uncertain Significance	26415676	Exon 5		No
APOB_0600	c.409G>T	p.Glu137*	APOB	1	SNV	Nonsense	Pathogenic	21291764	Exon 5		Yes
APOB_0601	c.394A>T	p.Lys132*	APOB	1	SNV	Nonsense	Pathogenic	30939045	Exon 5		No
APOB_0602	c.386A>G	p.Tyr129Cys	APOB	1	SNV	Missense	Uncertain Significance	17570373	Exon 5		Yes
APOB_0603	c.384-1G>C	Intronic	APOB	1	SNV	Splice acceptor	Pathogenic	28733173	Intron 4		No
APOB_0604	c.349A>C	p.Lys117Gln	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 4		No
APOB_0605	c.343A>C	p.Lys115Gln	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 4		No
APOB_0606	c.340A>C	p.Lys114Gln	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 4		No
APOB_0607	c.323A>G	p.Glu108Gly	APOB	1	SNV	Missense	Uncertain Significance	29870584	Exon 4		No
APOB_0608	c.293C>T	p.Thr98Ile	APOB	1	SNV	Missense	Benign	19200547	Exon 4		Yes
APOB_0609	c.289T>G	p.Cys97Gly	APOB	1	SNV	Missense	Uncertain Significance	25618028	Exon 4		No
APOB_0610	c.288G>T	p.Gln96His	APOB	3	SNV	Missense	Uncertain Significance	27932355	Exon 4		Yes
APOB_0611	c.259C>T	p.Leu87Phe	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 4		No
APOB_0612	c.237+1G>A	Intronic	APOB	1	SNV	Splice donor	Pathogenic	31629702	Intron 3		Yes
APOB_0613	c.218C>A	p.Ala73Asp	APOB	1	SNV	Missense	Uncertain Significance	24498611	Exon 3		Yes
APOB_0614	c.172G>C	p.Ala58Pro	APOB	1	SNV	Missense	Likely Pathogenic	23516411	Exon 3		No
APOB_0615	c.166T>C	p.Tyr56His	APOB	1	SNV	Missense	Uncertain Significance	24498611	Exon 3		Yes
APOB_0616	c.158_163del	p.Thr53_Tyr54del	APOB	1	Deletion	Deletion	Likely Pathogenic	26825690	Exon 3		No
APOB_0617	c.152A>G	p.Lys51Arg	APOB	1	SNV	Missense	Uncertain Significance	32770674	Exon 3		Yes
APOB_0618	c.151A>C	p.Lys51Gln	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 3		Yes
APOB_0619	c.149G>A	p.Arg50Gln	APOB	7	SNV	Missense	Likely Pathogenic	29386597	Exon 3		Yes
APOB_0620	c.148C>T	p.Arg50Trp	APOB	5	SNV	Missense	Likely Pathogenic	24498611, 24987033	Exon 3		Yes
APOB_0621	c.139A>C	p.Lys47Gln	APOB	1	SNV	Missense	Uncertain Significance	12070165	Exon 3		No
APOB_0622	c.134G>A	p.Arg45Gln	APOB	1	SNV	Missense	Uncertain Significance	27932355	Exon 3		Yes
APOB_0623	c.133C>T	p.Arg45*	APOB	1	SNV	Nonsense	Pathogenic	30782561	Exon 3		Yes
APOB_0624	c.129G>C	p.Ala43=	APOB	1	SNV	Silent	Benign	24498611	Exon 3		Yes
APOB_0625	c.122-170T>A	Intronic	APOB	1	SNV	Intronic	Benign	22095935	Intron 2		No
APOB_0626	c.110T>A	p.Leu37Gln	APOB	1	SNV	Missense	Uncertain Significance	21033204	Exon 2		Yes
APOB_0627	c.82+1G>C	Intronic	APOB	1	SNV	Splice donor	Likely Pathogenic	16390683	Intron 1		No
APOB_0628	c.82+1G>A	Intronic	APOB	1	SNV	Splice donor	Pathogenic	16390683	Intron 1		No
APOB_0629	c.73del	p.Ala25Profs*68	APOB	1	Deletion	Frameshift	Pathogenic	25618028	Exon 1		No
APOB_0630	c.61_66dup	p.Leu21_Leu22dup	APOB	1	Duplication	In-frame duplication	Benign		Exon 1		No
APOB_0631	c.64_66del	p.Leu22del	APOB	1	Deletion	Deletion	Uncertain Significance	36648309	Exon 1		No
APOB_0632	c.44_50del	p.Pro15Argfs*76	APOB	1	Deletion	Frameshift	Pathogenic	31345425	Exon 1		Yes
APOB_0633	c.43_44insG	p.Pro15Argfs*43	APOB	1	Insertion	Frameshift	Pathogenic	31345425	Exon 1		No
APOB_0634	c.44del	p.Pro15Leufs*78	APOB	1	Deletion	Frameshift	Pathogenic	31345425	Exon 1		No
APOB_0635	c.35_39del	p.Leu12Profs*44	APOB	1	Deletion	Frameshift	Pathogenic	31345425	Exon 1		Yes
APOB_0636	c.35T>C	p.Leu12Pro	APOB	1	SNV	Missense	Uncertain Significance	29036232	Exon 1		Yes
APOB_0637	c.35_43del	p.Leu12_Leu14del	APOB	1	Deletion	Deletion	Benign	22095935	Exon 1		No
APOB_0638	c.18_27del	p.Ala7Argfs*83	APOB	1	Deletion	Frameshift	Uncertain Significance	30827231	Exon 1		No
APOB_0639	c.18_25del	p.Ala7Glyfs*48	APOB	1	Deletion	Frameshift	Pathogenic	30827231	Exon 1		No
APOB_0640	c.18del	p.Ala7Argfs*86	APOB	1	Deletion	Frameshift	Pathogenic	30827231	Exon 1		No
APOB_0641	c.8del	p.Pro3Argfs*90	APOB	1	Deletion	Frameshift	Likely Pathogenic	30827231	Exon 1		No
APOB_0642	c.5A>G	p.Asp2Gly	APOB	1	SNV	Missense	Uncertain Significance	29531232	Exon 1		No
APOB_0644	c.2T>C	p.Met1?	APOB	1	SNV	Initiator codon	Pathogenic	30782561	Exon 1		No
APOB_0643	c.2del	p.Met1?	APOB	1	Deletion	Initiator codon	Pathogenic	30782561	Exon 1		No
APOB_0645	c.1del	p.Met1?	APOB	1	Deletion	Initiator codon	Pathogenic	30782561	Exon 1		No
APOB_0646	c.1A>G	p.Met1?	APOB	1	SNV	Initiator codon	Pathogenic	30782561	Exon 1		No
APOB_0647	c.-115C>G	5UTR	APOB	1	SNV	UTR	Benign	22095935	Exon 1		Yes
APOB_0648	c.?	p.Arg3670Ser	APOB	1		Missense	Uncertain Significance	29870584	Exon 26		Unknown
APOB_0649	c.?	p.Met755Leu	APOB	1		Missense	Uncertain Significance	26415676	Exon 16		Unknown
APOB_0650	c.?	p.Asn2871Lys	APOB	1		Missense	Uncertain Significance	35910211	Exon 26		Unknown
APOB_0651	c.?	p.Ala13fs	APOB	1		Frameshift	Likely Pathogenic	32785571	Exon 1		Unknown
APOB_0652	c.?	p.Arg490Ala	APOB	1		Missense	Likely Pathogenic	12551903	Exon 11		Unknown
APOB_0653	c.?	p.Arg490Lys	APOB	1		Missense	Likely Benign	12551903	Exon 11		Unknown
APOB_0654	c.?	p.Arg567*	APOB	1		Nonsense	Likely Pathogenic	21033204	Exon 13		Unknown
APOB_0655	c.?	p.Arg558Ala	APOB	1		Missense	Likely Pathogenic	9878414	Exon 13		Unknown
APOB_0656	c.?	p.Arg558His	APOB	1		Missense	Likely Pathogenic	9878414	Exon 13		Unknown
APOB_0657	c.?	p.Pro699fs	APOB	1		Frameshift	Likely Pathogenic	25839937	Exon 15		Unknown
APOB_0658	c.?	p.Lys707Ala	APOB	1		Missense	Likely Pathogenic	11473115	Exon 15		Unknown
APOB_0659	c.?	p.Lys717Ala	APOB	1		Missense	Uncertain Significance	11473115	Exon 15		Unknown
APOB_0660	c.?	p.Val853fs	APOB	1		Frameshift	Pathogenic	34317346	Exon 17		Unknown
APOB_0661	c.?	p.Arg931Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 18		Unknown
APOB_0662	c.?	p.Lys930Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 18		Unknown
APOB_0663	c.?	p.Lys934Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 18		Unknown
APOB_0664	c.?	p.Cys39Ser	APOB	1		Missense	Uncertain Significance	11254752	Exon 2		Unknown
APOB_0665	c.?	p.Arg1027Ala	APOB	1		Missense	Uncertain Significance	18725409	Exon 20		Unknown
APOB_0666	c.?	p.Cys1112Ser	APOB	1		Missense	Likely Pathogenic	10679026	Exon 22		Unknown
APOB_0667	c.?	p.His1272Gln	APOB	1		Missense	Uncertain Significance	27932355	Exon 24		Unknown
APOB_0668	c.?	p.Ala3215fs	APOB	1		Frameshift	Likely Pathogenic	36419110	Exon 26		Unknown
APOB_0669	c.?	p.Asn1772fs	APOB	1		Frameshift	Pathogenic	16390683	Exon 26		Unknown
APOB_0670	c.?	p.Leu2009fs	APOB	1		Frameshift	Likely Pathogenic	25839937	Exon 26		Unknown
APOB_0671	c.?	p.Leu3562fs	APOB	1		Frameshift	Likely Pathogenic	25839937	Exon 26		Unknown
APOB_0672	c.?	p.Phe1591fs	APOB	1		Frameshift	Pathogenic	34691145	Exon 26		Unknown
APOB_0673	c.?	p.Phe2167fs	APOB	1		Frameshift	Likely Pathogenic	16390683	Exon 26		Unknown
APOB_0674	c.?	p.Phe2656fs	APOB	1		Frameshift	Likely Pathogenic	36556183	Exon 26		Unknown
APOB_0675	c.?	p.Phe2846fs	APOB	1		Frameshift	Likely Pathogenic	25839937	Exon 26		Unknown
APOB_0676	c.?	p.Ser1943fs	APOB	1		Frameshift	Likely Pathogenic	36419110	Exon 26		Unknown
APOB_0677	c.?	p.Thr3579fs	APOB	1		Frameshift	Pathogenic	25632026	Exon 26		Unknown
APOB_0678	c.?	p.Asn1785*	APOB	1		Nonsense	Likely Pathogenic	9852051	Exon 26		Unknown
APOB_0679	c.?	p.Ser2128*	APOB	1		Nonsense	Likely Pathogenic	29192238	Exon 26		Unknown
APOB_0680	c.?	p.Ser3718*	APOB	1		Nonsense	Pathogenic	27179706	Exon 26		Unknown
APOB_0681	c.?	p.Tyr1578*	APOB	1		Nonsense	Likely Pathogenic	29192238	Exon 26		Unknown
APOB_0682	c.?	p.Val1856*	APOB	1		Nonsense	Pathogenic	2614276	Exon 26		Unknown
APOB_0683	c.?	p.Ala3554Ala	APOB	1		Missense	Uncertain Significance	9191540	Exon 26		Unknown
APOB_0684	c.?	p.Arg2109Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0685	c.?	p.Arg2112Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0686	c.?	p.Arg2150Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0687	c.?	p.Arg3183Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0688	c.?	p.Arg3386Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0689	c.?	p.Arg3389Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0690	c.?	p.Arg3391Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0691	c.?	p.Arg3527Cys	APOB	1		Missense	Uncertain Significance	20019594	Exon 26		Unknown
APOB_0692	c.?	p.Arg3527Lys	APOB	1		Missense	Likely Pathogenic	9555937	Exon 26		Unknown
APOB_0693	c.?	p.Arg3558Gln	APOB	1		Missense	Uncertain Significance	11833852	Exon 26		Unknown
APOB_0694	c.?	p.Arg3698Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0695	c.?	p.Arg3699Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0696	c.?	p.Asp2312Glu	APOB	1		Missense	Uncertain Significance	21502677	Exon 26		Unknown
APOB_0697	c.?	p.Glu2391Asp	APOB	1		Missense	Uncertain Significance	21408211	Exon 26		Unknown
APOB_0698	c.?	p.Glu2566Asp	APOB	1		Missense	Uncertain Significance	21033204	Exon 26		Unknown
APOB_0699	c.?	p.Ile2850Tyr	APOB	1		Missense	Uncertain Significance	21033204	Exon 26		Unknown
APOB_0700	c.?	p.Ile2877Tyr	APOB	1		Missense	Uncertain Significance	21033204	Exon 26		Unknown
APOB_0701	c.?	p.Leu3056Leu	APOB	1		Missense	Uncertain Significance	9254062	Exon 26		Unknown
APOB_0702	c.?	p.Leu3544Leu	APOB	1		Missense	Uncertain Significance	9191540	Exon 26		Unknown
APOB_0703	c.?	p.Leu3684Ala	APOB	1		Missense	Uncertain Significance	35524581	Exon 26		Unknown
APOB_0704	c.?	p.Leu3688Ala	APOB	1		Missense	Uncertain Significance	35524581	Exon 26		Unknown
APOB_0705	c.?	p.Lys1730Gly	APOB	1		Missense	Uncertain Significance	21033204	Exon 26		Unknown
APOB_0706	c.?	p.Lys1984Asn	APOB	1		Missense	Uncertain Significance	27932355	Exon 26		Unknown
APOB_0707	c.?	p.Lys2110Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0708	c.?	p.Lys2147Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0709	c.?	p.Lys2148Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0710	c.?	p.Lys2425Asn	APOB	1		Missense	Uncertain Significance	27932355	Exon 26		Unknown
APOB_0711	c.?	p.Lys3178Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0712	c.?	p.Lys3179Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0713	c.?	p.Lys3390Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0714	c.?	p.Lys3394Ala	APOB	1		Missense	Uncertain Significance	12070165	Exon 26		Unknown
APOB_0715	c.?	p.Ser2378Arg	APOB	1		Missense	Uncertain Significance	26036859	Exon 26		Unknown
APOB_0716	c.?	p.Ser3301Gly	APOB	1		Missense	Uncertain Significance	24234650	Exon 26		Unknown
APOB_0717	c.?	p.Ser3482Arg	APOB	1		Missense	Uncertain Significance	19200547	Exon 26		Unknown
APOB_0718	c.?	p.Trp3685Ala	APOB	1		Missense	Uncertain Significance	35524581	Exon 26		Unknown
APOB_0719	c.?	p.Val2313Ile	APOB	1		Missense	Uncertain Significance	21502677	Exon 26		Unknown
APOB_0720	c.?	p.Ile4533Leu	APOB	1		Missense	Uncertain Significance	32115487	Exon 29		Unknown
APOB_0721	c.?	p.Lys4399Ala	APOB	1		Missense	Likely Pathogenic	15375179	Exon 29		Unknown
APOB_0722	c.?	p.Lys4419Ala	APOB	1		Missense	Likely Pathogenic	15375179	Exon 29		Unknown
APOB_0723	c.?	p.Trp4396Tyr	APOB	1		Missense	Likely Pathogenic	20506408	Exon 29		Unknown
APOB_0724	c.?	p.Arg45Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 3		Unknown
APOB_0725	c.?	p.Arg50Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 3		Unknown
APOB_0726	c.?	p.Cys78Ser	APOB	1		Missense	Uncertain Significance	11254752	Exon 3		Unknown
APOB_0727	c.?	p.Cys88Ser	APOB	1		Missense	Uncertain Significance	11254752	Exon 4		Unknown
APOB_0728	c.?	p.Cys97Ser	APOB	1		Missense	Uncertain Significance	11254752	Exon 4		Unknown
APOB_0729	c.?	p.Val166fs	APOB	1		Frameshift	Pathogenic	34691145	Exon 5		Unknown
APOB_0730	c.?	p.Asn185Gln	APOB	1		Missense	Uncertain Significance	12562832	Exon 6		Unknown
APOB_0731	c.?	p.Cys186Ala	APOB	1		Missense	Uncertain Significance	9878414	Exon 6		Unknown
APOB_0732	c.?	p.Cys212Ala	APOB	1		Missense	Uncertain Significance	9878414	Exon 6		Unknown
APOB_0733	c.?	p.Pro234fs	APOB	1		Frameshift	Likely Pathogenic	25839937	Exon 7		Unknown
APOB_0734	c.?	p.Arg253Ser	APOB	1		Missense	Uncertain Significance	12070165	Exon 7		Unknown
APOB_0735	c.?	p.Cys245Ser	APOB	1		Missense	Uncertain Significance	11254752	Exon 7		Unknown
APOB_0736	c.?	p.Cys261Ser	APOB	1		Missense	Uncertain Significance	11254752	Exon 7		Unknown
APOB_0737	c.?	p.Leu347Ala	APOB	1		Missense	Uncertain Significance	35524581	Exon 9		Unknown
APOB_0738	c.?	p.Leu351Ala	APOB	1		Missense	Uncertain Significance	35524581	Exon 9		Unknown
APOB_0739	c.?	p.Phe348Ala	APOB	1		Missense	Uncertain Significance	35524581	Exon 9		Unknown
APOB_0740	c.(?_-128)_(*301_?)dup	Gain (Entire gene)	APOB	1	Copy Number Gain	Duplication	Uncertain Significance	35047021	Exons 1-29, Introns 1-28		Unknown
APOB_0741	c.(12087+1_12088-1)insN[283]	Intronic	APOB	1	Insertion	Unknown	Uncertain Significance	8123646	Intron 28		Unknown
APOB_0742	c.2817-75_3121+75del	Deletion (Exons 19-20)	APOB	1	Copy Number Loss	Deletion	Uncertain Significance	34340953	Exons 19-20, Introns 18-20		Unknown

	Unselect All / Select All	Unselect All / Select All
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_000384.3 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

Give us a moment while we fetch the data.