ClinVar Miner

Variants with conflicting interpretations studied for Familial hypercholesterolemia

Coded as:
Minimum review status of the submission for Familial hypercholesterolemia: Y axis collection method of the submission for Familial hypercholesterolemia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1475 614 0 698 252 2 324 1027

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Familial hypercholesterolemia pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 522 171 68 22 0
likely pathogenic 516 0 183 58 23 0
uncertain significance 146 163 0 207 112 1
likely benign 62 48 157 0 156 1
benign 16 22 68 124 0 1
risk factor 0 0 0 0 1 0

Condition to condition summary #

Total conditions: 20
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Familial hypercholesterolemia 1772 477 0 617 145 0 288 867
Familial hypercholesterolemias 0 83 0 181 140 0 78 302
not specified 0 26 0 97 93 1 42 157
not provided 0 67 0 113 48 0 54 148
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 0 16 0 68 76 0 6 112
Familial hypobetalipoproteinemia 0 160 0 42 35 0 5 62
Hypercholesterolemia, autosomal dominant, 3 0 8 0 28 20 0 15 44
Hypercholesterolaemia 0 1 0 13 14 0 29 36
Hypercholesterolemia, autosomal dominant, type B 0 0 0 2 2 0 2 5
Hypercholesterolemia, autosomal recessive 0 3 0 1 3 0 0 3
Hypobetalipoproteinemia, familial, 1 0 0 0 1 3 0 0 3
Early-onset coronary artery disease 0 0 0 1 0 0 2 2
Inborn genetic diseases 0 0 0 1 0 0 1 2
Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke 0 0 0 1 0 0 0 1
FH LEIDEN 1 0 0 0 1 0 0 0 1
Hypercholesterolemia 0 1 0 0 1 0 0 1
Hypobetalipoproteinemia 0 0 0 1 0 0 0 1
Hypocholesterolemia 0 0 0 0 0 0 1 1
Laron-type isolated somatotropin defect 0 0 0 0 0 1 0 1
Low density lipoprotein cholesterol level quantitative trait locus 1 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 1027
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
FH Cape Town 2
FH Vancouver 4
NC_000019.9:g.(11200292_11210898)_(11222316_11223953)dup
NC_000019.9:g.(11211022_11213339)_(11216277_11217240)dup
NC_000019.9:g.(11213463_11215895)_(11222316_11223953)dup
NC_000019.9:g.(11221448_11222189)_(11222316_11223953)del
NC_000019.9:g.(11222316_11223953)_(11231199_11233849)dup
NC_000019.9:g.(11224439_11226769)_(11227675_11230767)dup
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
NM_000163.4(GHR):c.1630A>C (p.Ile544Leu) rs6180
NM_000384.2(APOB):c.*11G>T rs72654428
NM_000384.2(APOB):c.-115C>G rs1800480
NM_000384.2(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.10575C>T (p.Ser3525=) rs142573551
NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.2(APOB):c.10700C>T (p.Thr3567Met) rs368278927
NM_000384.2(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.2(APOB):c.10708C>T (p.His3570Tyr) rs201736972
NM_000384.2(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.2(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000384.2(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.2(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.2(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.2(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.2(APOB):c.11356C>T (p.Leu3786Phe) rs571485213
NM_000384.2(APOB):c.11362G>A (p.Glu3788Lys) rs13306191
NM_000384.2(APOB):c.11401T>A (p.Ser3801Thr) rs12713540
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.11761G>A (p.Val3921Ile) rs72654409
NM_000384.2(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.2(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.2(APOB):c.11904-15T>A rs370325726
NM_000384.2(APOB):c.11904-7C>T rs12720851
NM_000384.2(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.2(APOB):c.12024C>T (p.Thr4008=) rs145269223
NM_000384.2(APOB):c.12088-13delT rs751121092
NM_000384.2(APOB):c.12088-13dupT rs751121092
NM_000384.2(APOB):c.12088-14T>C rs182329513
NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.2(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.2(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.2(APOB):c.12318A>G (p.Arg4106=) rs375795401
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12444C>A (p.Ala4148=) rs757789853
NM_000384.2(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.2(APOB):c.12794T>C (p.Val4265Ala) rs61743502
NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.2(APOB):c.1280G>A (p.Arg427Gln) rs755407886
NM_000384.2(APOB):c.12903C>T (p.Asp4301=) rs200145506
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.129G>C (p.Ala43=) rs12720850
NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.2(APOB):c.13028_13029delAT (p.Tyr4343Cysfs) rs760832994
NM_000384.2(APOB):c.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.2(APOB):c.1310G>A (p.Arg437His) rs142114415
NM_000384.2(APOB):c.13160A>T (p.Glu4387Val) rs150412734
NM_000384.2(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.2(APOB):c.13480_13482delCAG (p.Gln4494del) rs562574661
NM_000384.2(APOB):c.1353-12C>T rs76202659
NM_000384.2(APOB):c.13680T>C (p.Thr4560=) rs72654427
NM_000384.2(APOB):c.1470+15T>C rs185550846
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.2(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.2(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.2(APOB):c.2068-4T>A rs41291161
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.2244+3G>A rs12714189
NM_000384.2(APOB):c.2585T>C (p.Val862Ala) rs145142090
NM_000384.2(APOB):c.2604+15G>C rs72653066
NM_000384.2(APOB):c.2630C>T (p.Pro877Leu) rs12714097
NM_000384.2(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.2(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.2(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.2(APOB):c.285C>A (p.Ser95Arg) rs143613534
NM_000384.2(APOB):c.2863C>T (p.Pro955Ser) rs13306206
NM_000384.2(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.2(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.2(APOB):c.2968G>A (p.Ala990Thr) rs139434026
NM_000384.2(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.2(APOB):c.3034G>A (p.Glu1012Lys) rs575505383
NM_000384.2(APOB):c.307T>C (p.Tyr103His) rs9282603
NM_000384.2(APOB):c.3122-6G>A rs72653071
NM_000384.2(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.2(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.2(APOB):c.3427C>T (p.Pro1143Ser) rs72653077
NM_000384.2(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.2(APOB):c.3491G>A (p.Arg1164Lys) rs759845943
NM_000384.2(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000384.2(APOB):c.3509-10G>A rs12720770
NM_000384.2(APOB):c.3509-11C>T rs200768300
NM_000384.2(APOB):c.35_43delTGGCGCTGC (p.Leu12_Leu14del) rs17240441
NM_000384.2(APOB):c.35delT (p.Leu12Argfs) rs1060499841
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.2(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.2(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.2(APOB):c.400G>T (p.Ala134Ser) rs368321279
NM_000384.2(APOB):c.403A>G (p.Ile135Val) rs769296548
NM_000384.2(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.2(APOB):c.4178C>T (p.Ala1393Val) rs143282164
NM_000384.2(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.2(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.2(APOB):c.4449A>G (p.Glu1483=) rs151018874
NM_000384.2(APOB):c.4656T>C (p.Ser1552=) rs761580028
NM_000384.2(APOB):c.4663A>G (p.Ile1555Val) rs141225768
NM_000384.2(APOB):c.4825T>C (p.Leu1609=) rs72653083
NM_000384.2(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.2(APOB):c.499C>T (p.Pro167Ser) rs139842930
NM_000384.2(APOB):c.5066G>A (p.Arg1689His) rs151009667
NM_000384.2(APOB):c.538-9C>T rs1800478
NM_000384.2(APOB):c.5690G>A (p.Arg1897His) rs199510126
NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.2(APOB):c.5763A>G (p.Gly1921=) rs141022509
NM_000384.2(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.2(APOB):c.5913G>A (p.Leu1971=) rs374251542
NM_000384.2(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.2(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.2(APOB):c.6261C>A (p.Thr2087=) rs61744855
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000384.2(APOB):c.6656G>A (p.Arg2219His) rs200106845
NM_000384.2(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.2(APOB):c.6936C>T (p.Asp2312=) rs1041968
NM_000384.2(APOB):c.6937G>A (p.Val2313Ile) rs584542
NM_000384.2(APOB):c.7242A>C (p.Glu2414Asp) rs72653091
NM_000384.2(APOB):c.7283A>G (p.Lys2428Arg) rs1369533953
NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.751G>A (p.Ala251Thr) rs61741625
NM_000384.2(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.2(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.7853T>C (p.Ile2618Thr) rs531273434
NM_000384.2(APOB):c.7989T>C (p.Ile2663=) rs199642915
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.2(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.2(APOB):c.83-11C>T rs372452800
NM_000384.2(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.2(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.2(APOB):c.8469T>C (p.Ala2823=) rs531216195
NM_000384.2(APOB):c.8720G>A (p.Arg2907His) rs751437976
NM_000384.2(APOB):c.8877G>A (p.Leu2959=) rs765899256
NM_000384.2(APOB):c.8889C>T (p.Ile2963=) rs72653097
NM_000384.2(APOB):c.8912A>C (p.Asn2971Thr) rs72653098
NM_000384.2(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.2(APOB):c.905-15C>G rs72653061
NM_000384.2(APOB):c.905-16A>C rs12720810
NM_000384.2(APOB):c.9105T>C (p.Asn3035=) rs147510760
NM_000384.2(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000384.2(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.2(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.2(APOB):c.9639C>A (p.Asn3213Lys) rs574725520
NM_000384.2(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.2(APOB):c.9855C>T (p.Ile3285=) rs72654403
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000384.2(APOB):c.9883T>C (p.Tyr3295His) rs186299244
NM_000527.4(LDLR):c.*13A>G rs72658871
NM_000527.4(LDLR):c.*52G>A rs14158
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-138T>C rs879254372
NM_000527.4(LDLR):c.-138delT rs387906307
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.-140C>A rs875989887
NM_000527.4(LDLR):c.-140C>G rs875989887
NM_000527.4(LDLR):c.-140C>T rs875989887
NM_000527.4(LDLR):c.-149C>A rs879254368
NM_000527.4(LDLR):c.-152C>T rs879254367
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.-155_-154delACinsTTCTGCAAACTCCT rs879254365
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.-208A>T rs879254361
NM_000527.4(LDLR):c.-215A>G rs879254360
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.-268G>T rs17249134
NM_000527.4(LDLR):c.-36T>G rs879254378
NM_000527.4(LDLR):c.-88G>A rs879254376
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.1002C>T (p.Ile334=) rs762853526
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.4(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.4(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.4(LDLR):c.1013G>A (p.Cys338Tyr) rs879254754
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1019_1020delGCinsTG (p.Cys340Leu) rs879254758
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.4(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1045del (p.Gln349Serfs) rs879254765
NM_000527.4(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1056_1060+3delCGAAGGTG rs879254770
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+40G>A rs192390193
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1061-1G>A rs879254774
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1063A>G (p.Ile355Val) rs879254776
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.4(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.4(LDLR):c.1080T>G (p.Asp360Glu) rs749322464
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1102T>G (p.Cys368Gly) rs879254791
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.4(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) rs879254803
NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.4(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.4(LDLR):c.1153C>G (p.Leu385Val) rs879254808
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.4(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1186+1G>A rs730880131
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1187-1G>A rs879254824
NM_000527.4(LDLR):c.1187-2A>G rs879254823
NM_000527.4(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.4(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.4(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.4(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.4(LDLR):c.1199_1207delACCTCTTCT (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.4(LDLR):c.1206_1207delCT (p.Phe403Hisfs) rs879254829
NM_000527.4(LDLR):c.1207T>C (p.Phe403Leu) rs879254831
NM_000527.4(LDLR):c.1207_1209del (p.Phe403del) rs879254830
NM_000527.4(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.4(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.4(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1239G>A (p.Thr413=) rs777011006
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.4(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.4(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.4(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.4(LDLR):c.1265T>C (p.Leu422Pro) rs879254848
NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.4(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.4(LDLR):c.1279A>C (p.Arg427=) rs371355878
NM_000527.4(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.4(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.4(LDLR):c.1295T>C (p.Leu432Pro) rs879254855
NM_000527.4(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.4(LDLR):c.1297G>T (p.Asp433Tyr) rs121908036
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.4(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1359-1G>C rs139617694
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1359-5C>G rs531005522
NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro) rs200143634
NM_000527.4(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.4(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.4(LDLR):c.1383C>T (p.Gly461=) rs764929176
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.4(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1415_1418dupACAT (p.Gln474Hisfs) rs879254892
NM_000527.4(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.4(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.4(LDLR):c.1426C>T (p.Pro476Ser) rs879254898
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.4(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.4(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) rs869025453
NM_000527.4(LDLR):c.1486_1487delGG (p.Gly496Hisfs) rs869025454
NM_000527.4(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1496_1497del (p.Ser499Cysfs) rs879254922
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1503G>A (p.Ala501=) rs368889457
NM_000527.4(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1520A>C (p.Lys507Thr) rs879254929
NM_000527.4(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.4(LDLR):c.1545C>T (p.Asn515=) rs147896205
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.4(LDLR):c.1558A>G (p.Arg520Gly) rs879254939
NM_000527.4(LDLR):c.155G>A (p.Cys52Tyr) rs879254418
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1567G>T (p.Val523Leu) rs28942080
NM_000527.4(LDLR):c.1570G>A (p.Val524Met) rs730882105
NM_000527.4(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+16G>A rs114891301
NM_000527.4(LDLR):c.1586+1G>A rs755389753
NM_000527.4(LDLR):c.1586+1G>T rs755389753
NM_000527.4(LDLR):c.1586+2T>A rs879254945
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1587-2A>T rs879254947
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1588T>G (p.Phe530Val) rs875989924
NM_000527.4(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.4(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.4(LDLR):c.1601C>A (p.Thr534Asn) rs879254954
NM_000527.4(LDLR):c.1603G>T (p.Asp535Tyr) rs879254955
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.4(LDLR):c.1625T>G (p.Ile542Ser) rs879254962
NM_000527.4(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn) rs879254963
NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1646G>T (p.Gly549Val) rs28941776
NM_000527.4(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974
NM_000527.4(LDLR):c.1658_1660delACT (p.Tyr553del) rs1555806019
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.4(LDLR):c.166T>C (p.Ser56Pro) rs878854026
NM_000527.4(LDLR):c.1684_1686dup (p.Trp562_Pro563insTrp) rs879254983
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1698_1704delCACCCTAinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.4(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1703T>C (p.Leu568Pro) rs879254991
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1705+1G>C rs875989926
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-1G>A rs879254996
NM_000527.4(LDLR):c.1706-1G>T rs879254996
NM_000527.4(LDLR):c.1706-2A>C rs878854027
NM_000527.4(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.4(LDLR):c.171_173delTGA (p.Asp57del) rs879254421
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1730G>C (p.Trp577Ser) rs138947766
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.4(LDLR):c.1754T>A (p.Ile585Asn) rs879255012
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1784G>T (p.Arg595Leu) rs201102492
NM_000527.4(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.4(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.4(LDLR):c.1811delGinsCT (p.Arg604Thrfs) rs1555806529
NM_000527.4(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.4(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1820A>G (p.His607Arg) rs879255033
NM_000527.4(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.4(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.4(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.4(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.4(LDLR):c.1829_1831del (p.Ser610del) rs879255037
NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.4(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.4(LDLR):c.1845+11C>G rs370245937
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1845+1G>T rs879255049
NM_000527.4(LDLR):c.1845+1del rs879255048
NM_000527.4(LDLR):c.1845+2T>C rs778408161
NM_000527.4(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1853_1864del (p.Val618_Thr621del) rs879255052
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.4(LDLR):c.1856T>G (p.Phe619Cys) rs879255054
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.4(LDLR):c.1862C>G (p.Thr621Arg) rs879255058
NM_000527.4(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1871_1873del (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.1880C>A (p.Ala627Asp) rs875989934
NM_000527.4(LDLR):c.1887C>T (p.Phe629=) rs751234870
NM_000527.4(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.4(LDLR):c.1891_2311+1062del (p.(?))
NM_000527.4(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.4(LDLR):c.190+2_190+3dup rs879254429
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.190+56G>A rs3745677
NM_000527.4(LDLR):c.190+5G>A rs1131692190
NM_000527.4(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.4(LDLR):c.191-1G>A rs879254433
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.191-2delinsCT rs879254432
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1911C>T (p.Ser637=) rs373570349
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.4(LDLR):c.1976C>A (p.Thr659Asn) rs879255094
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1978C>A (p.Gln660Lys) rs193922569
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.1982C>T (p.Pro661Leu) rs1057519680
NM_000527.4(LDLR):c.1987+10G>T rs375846192
NM_000527.4(LDLR):c.1988-13T>G rs200201131
NM_000527.4(LDLR):c.1988-2A>T rs879255101
NM_000527.4(LDLR):c.1988-5C>G rs375877599
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.4(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.4(LDLR):c.2017A>C (p.Ser673Arg) rs749085746
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.4(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.4(LDLR):c.2033_2044del (p.Gln678_Cys681del) rs879255115
NM_000527.4(LDLR):c.2041T>A (p.Cys681Ser) rs879255118
NM_000527.4(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.4(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.4(LDLR):c.2053C>A (p.Pro685Thr) rs2569548
NM_000527.4(LDLR):c.2053C>T (p.Pro685Ser) rs2569548
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.4(LDLR):c.2087G>A (p.Cys696Tyr) rs879255134
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.4(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.4(LDLR):c.211G>A (p.Gly71Arg) rs766903209
NM_000527.4(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.4(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.4(LDLR):c.2132G>T (p.Cys711Phe) rs879255145
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+2T>C rs879255147
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2140+86C>G rs587776886
NM_000527.4(LDLR):c.2140G>C (p.Glu714Gln) rs869320652
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.4(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.4(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_000527.4(LDLR):c.2167G>T (p.E723*) rs1057516127
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2225C>T (p.Thr742Ile) rs767546791
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2231_2232delGAinsAG (p.Arg744Gln) rs1555808091
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.223T>A (p.Cys75Ser) rs879254439
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.4(LDLR):c.2291T>C (p.Ile764Thr) rs759440817
NM_000527.4(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.4(LDLR):c.230delG (p.Gly77Alafs) rs879254440
NM_000527.4(LDLR):c.2311+1941_*1216dup
NM_000527.4(LDLR):c.2311+1G>T rs879255175
NM_000527.4(LDLR):c.2311+2T>G rs879255176
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.4(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.4(LDLR):c.2343G>T (p.Glu781Asp) rs761683856
NM_000527.4(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.4(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.4(LDLR):c.2375T>C (p.Ile792Thr) rs764493597
NM_000527.4(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389+14G>A rs879255192
NM_000527.4(LDLR):c.2389+1G>A rs879255186
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2389+41C>A rs72658868
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389+5G>A rs879255191
NM_000527.4(LDLR):c.2389+7G>A rs369551855
NM_000527.4(LDLR):c.2389+8C>T rs747170426
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-16G>A rs183496025
NM_000527.4(LDLR):c.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.2395_2397del (p.Leu799del) rs879255195
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2397_2412del16 (p.Val800Glyfs) rs879255197
NM_000527.4(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_000527.4(LDLR):c.2407_2424dup (p.Leu808_Leu809insCysLeuGlyValPheLeu) rs879255201
NM_000527.4(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.4(LDLR):c.2411T>C (p.Leu804Pro) rs879255203
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.4(LDLR):c.245G>T (p.Cys82Phe) rs879254448
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2483A>C (p.Tyr828Ser) rs28942085
NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.4(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.4(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.4(LDLR):c.2544dup (p.Ser849Leufs) rs879255222
NM_000527.4(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.4(LDLR):c.2546del (p.Ser849Terfs) rs879255223
NM_000527.4(LDLR):c.2547+5G>C rs879255226
NM_000527.4(LDLR):c.2548-12A>G rs771336748
NM_000527.4(LDLR):c.2548-19G>A rs146008484
NM_000527.4(LDLR):c.2575G>A (p.Val859Met) rs202049029
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.257_265delTCTGGAGGT (p.Phe86_Arg88del) rs879254451
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.4(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.292G>A (p.Gly98Ser) rs750474121
NM_000527.4(LDLR):c.292G>C (p.Gly98Arg) rs750474121
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.4(LDLR):c.299A>G (p.Asp100Gly) rs879254460
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.4(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+1G>T rs112029328
NM_000527.4(LDLR):c.313+2T>A rs793888517
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.313+5G>A rs879254467
NM_000527.4(LDLR):c.313+5G>T rs879254467
NM_000527.4(LDLR):c.313+6T>C rs879254468
NM_000527.4(LDLR):c.313C>T (p.Pro105Ser) rs13306510
NM_000527.4(LDLR):c.314-1G>A rs879254471
NM_000527.4(LDLR):c.314-2A>C rs879254470
NM_000527.4(LDLR):c.314-3C>T rs879254469
NM_000527.4(LDLR):c.314-446_1187-386dup
NM_000527.4(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.326G>C (p.Cys109Ser) rs121908042
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.340_344delTTTCG (p.F114Lfs*13) rs1057516132
NM_000527.4(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.4(LDLR):c.347_349del (p.Cys116_His117delinsTyr) rs879254483
NM_000527.4(LDLR):c.351C>T (p.His117=) rs200258458
NM_000527.4(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.4(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.4(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.4(LDLR):c.373C>A (p.Gln125Lys) rs875989899
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) rs879254502
NM_000527.4(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.4(LDLR):c.388T>C (p.Ser130Pro) rs879254508
NM_000527.4(LDLR):c.391G>C (p.Asp131His) rs879254511
NM_000527.4(LDLR):c.3G>T (p.Met1Ile) rs879254383
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.4(LDLR):c.415G>A (p.Asp139Asn) rs879254517
NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.4(LDLR):c.416A>T (p.Asp139Val) rs879254518
NM_000527.4(LDLR):c.417C>G (p.Asp139Glu) rs537484504
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.419A>G (p.Glu140Gly) rs879254519
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.434T>C (p.Val145Ala) rs776872913
NM_000527.4(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.4(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.447T>C (p.Gly149=) rs765386678
NM_000527.4(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.4(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.458T>G (p.Phe153Cys) rs879254533
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.4(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.4(LDLR):c.467delA (p.N156Tfs*49) rs1057516135
NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.4(LDLR):c.479G>A (p.Cys160Tyr) rs879254541
NM_000527.4(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.4(LDLR):c.48C>A (p.Leu16=) rs565675103
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.4(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.4(LDLR):c.4G>C (p.Gly2Arg) rs5931
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) rs139089530
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.514G>T (p.Asp172Tyr) rs879254554
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.4(LDLR):c.518G>A (p.Cys173Tyr) rs879254560
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.531G>A (p.Ser177=) rs555158224
NM_000527.4(LDLR):c.532G>C (p.Asp178His) rs879254565
NM_000527.4(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.4(LDLR):c.533A>T (p.Asp178Val) rs875989902
NM_000527.4(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.4(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.564C>T (p.Tyr188=) rs121908034
NM_000527.4(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.4(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.4(LDLR):c.611G>C (p.Cys204Ser) rs879254592
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.4(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.632A>T (p.His211Leu) rs879254603
NM_000527.4(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.4(LDLR):c.648dupT (p.Asp217Terfs) rs875989903
NM_000527.4(LDLR):c.653delG (p.Gly218Valfs) rs137853966
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.660C>T (p.Pro220=) rs143002616
NM_000527.4(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.4(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.663_683dup21 (p.Asp227_Glu228insAspCysLysAspLysSerAsp) rs879254620
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.4(LDLR):c.67+2T>A rs879254394
NM_000527.4(LDLR):c.67+3968_940+296dup
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.4(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.68-2A>G rs879254396
NM_000527.4(LDLR):c.68-2A>T rs879254396
NM_000527.4(LDLR):c.68-5_68-2del rs879254395
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.683A>C (p.Glu228Ala) rs879254642
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.4(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.692G>A (p.Cys231Tyr) rs879254644
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.694+25C>T rs199540175
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-1G>T rs879254652
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.706T>C (p.Cys236Arg) rs879254655
NM_000527.4(LDLR):c.709C>T (p.Arg237Cys) rs879254657
NM_000527.4(LDLR):c.710G>A (p.Arg237His) rs148171426
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.4(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.4(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.4(LDLR):c.742T>G (p.Cys248Gly) rs879254662
NM_000527.4(LDLR):c.743G>T (p.Cys248Phe) rs879254663
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.4(LDLR):c.763T>A (p.Cys255Ser) rs879254668
NM_000527.4(LDLR):c.763T>C (p.Cys255Arg) rs879254668
NM_000527.4(LDLR):c.767A>G (p.Asp256Gly) rs879254670
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.4(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.4(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.808T>A (p.Cys270Ser) rs879254682
NM_000527.4(LDLR):c.808T>C (p.Cys270Arg) rs879254682
NM_000527.4(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.4(LDLR):c.817+1G>A rs879254685
NM_000527.4(LDLR):c.817+9T>C rs375163928
NM_000527.4(LDLR):c.818-1G>A rs879254688
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.4(LDLR):c.828C>T (p.Cys276=) rs146651743
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.850T>G (p.Cys284Gly) rs879254693
NM_000527.4(LDLR):c.853C>T (p.His285Tyr) rs730882091
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.4(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.4(LDLR):c.865del (p.Cys289Alafs) rs879254696
NM_000527.4(LDLR):c.880A>G (p.Lys294Glu) rs879254703
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.4(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.4(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.4(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.4(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.4(LDLR):c.921T>G (p.Asp307Glu) rs879254720
NM_000527.4(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000527.4(LDLR):c.938_939delGCinsAT (p.Cys313Tyr) rs875989910
NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.4(LDLR):c.940+1G>C rs879254729
NM_000527.4(LDLR):c.940+2T>A rs875989912
NM_000527.4(LDLR):c.940+2T>C rs875989912
NM_000527.4(LDLR):c.940+9C>T rs17242906
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-1G>A rs879254735
NM_000527.4(LDLR):c.941-2A>G rs112366278
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.949G>A (p.Glu317Lys) rs746834464
NM_000527.4(LDLR):c.952T>C (p.Cys318Arg) rs879254738
NM_000527.4(LDLR):c.95T>G (p.Phe32Cys) rs879254403
NM_000527.4(LDLR):c.964_966delAAC (p.Asn322del) rs879254741
NM_000527.4(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.4(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.4(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_001195799.1(LDLR):c.191-2433_191-2432insG rs879254466
NM_015627.2(LDLRAP1):c.201G>A (p.Ser67=) rs747011377
NM_015627.2(LDLRAP1):c.672C>T (p.Ser224=) rs41291054
NM_015627.2(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.-861G>A rs2479409
NM_174936.3(PCSK9):c.-8T>C rs886039837
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.10G>A (p.Val4Ile) rs186669805
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.3(PCSK9):c.1180G>A (p.Gly394Ser) rs368257906
NM_174936.3(PCSK9):c.1251C>A (p.His417Gln) rs143275858
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1354+9G>T rs72646516
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129
NM_174936.3(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.1503+54_1503+71del rs35115360
NM_174936.3(PCSK9):c.1503+58_1503+71delGTGTGTGTGTGTGT rs35115360
NM_174936.3(PCSK9):c.1503+60_1503+71delGTGTGTGTGTGT rs35115360
NM_174936.3(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg) rs28362270
NM_174936.3(PCSK9):c.169G>A (p.Glu57Lys) rs145886902
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277
NM_174936.3(PCSK9):c.1863+6G>A rs568853401
NM_174936.3(PCSK9):c.1864-13C>T rs147470944
NM_174936.3(PCSK9):c.1979A>C (p.Asp660Ala) rs755522807
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.2022C>T (p.Ala674=) rs886046436
NM_174936.3(PCSK9):c.2023G>A (p.Val675Ile) rs760981278
NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.3(PCSK9):c.277C>T (p.Arg93Cys) rs151193009
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291
NM_174936.3(PCSK9):c.386A>G (p.Asp129Gly) rs1553135971
NM_174936.3(PCSK9):c.399+4A>G rs376653409
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.60_65dupGCTGCT (p.Leu23_Gly24insLeuLeu) rs35574083
NM_174936.3(PCSK9):c.627C>T (p.Pro209=) rs375892354
NM_174936.3(PCSK9):c.63_65delGCT (p.Leu23del) rs35574083
NM_174936.3(PCSK9):c.63_65dupGCT (p.Leu23_Gly24insLeu) rs35574083
NM_174936.3(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.658G>A (p.Ala220Thr) rs768795323
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.799+3A>G rs2495477
NM_174936.3(PCSK9):c.85delC (p.Arg29Valfs) rs1553135406
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867
NM_174936.3(PCSK9):c.993C>T (p.Pro331=) rs376753957
NM_174936.3(PCSK9):c.996+8delC rs768213924

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