NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)
|
rs509504
|
0.98223
|
NM_174936.4(PCSK9):c.207+15A>G
|
rs2495482
|
0.91171
|
NM_174936.4(PCSK9):c.1380A>G (p.Val460=)
|
rs540796
|
0.82761
|
NM_174936.4(PCSK9):c.1355-56C>T
|
rs585131
|
0.82748
|
NM_174936.4(PCSK9):c.1503+67T>C
|
rs563641
|
0.82678
|
NM_174936.4(PCSK9):c.*571C>T
|
rs662145
|
0.67233
|
NM_174936.4(PCSK9):c.-861G>A
|
rs2479409
|
0.65880
|
NM_174936.4(PCSK9):c.1681+64G>A
|
rs483462
|
0.62233
|
NM_174936.4(PCSK9):c.799+64C>A
|
rs494198
|
0.60378
|
NM_174936.4(PCSK9):c.799+3A>G
|
rs2495477
|
0.49156
|
NM_174936.4(PCSK9):c.658-7C>T
|
rs2483205
|
0.45035
|
NM_174936.4(PCSK9):c.657+114C>A
|
rs7552350
|
0.16742
|
NM_174936.4(PCSK9):c.657+76C>A
|
rs11806638
|
0.13140
|
NM_174936.4(PCSK9):c.-64C>T
|
rs45448095
|
0.09487
|
NM_174936.4(PCSK9):c.207+209C>T
|
rs11583723
|
0.09478
|
NM_174936.4(PCSK9):c.524-11G>A
|
rs11800231
|
0.08151
|
NM_174936.4(PCSK9):c.1681+63C>T
|
rs45439391
|
0.05146
|
NM_174936.4(PCSK9):c.657+9G>A
|
rs11800243
|
0.03991
|
NM_174936.4(PCSK9):c.658-36G>A
|
rs11800265
|
0.03888
|
NM_174936.4(PCSK9):c.*614C>T
|
rs17111557
|
0.03123
|
NM_174936.4(PCSK9):c.*414C>T
|
rs13376071
|
0.03076
|
NM_174936.4(PCSK9):c.705C>T (p.Ser235=)
|
rs7552471
|
0.02435
|
NM_174936.4(PCSK9):c.*345C>T
|
rs17111555
|
0.02424
|
NM_174936.4(PCSK9):c.*537del
|
rs72646535
|
0.02413
|
NM_174936.4(PCSK9):c.*75C>T
|
rs28362287
|
0.02377
|
NM_174936.4(PCSK9):c.*444G>C
|
rs28362288
|
0.01963
|
NM_174936.4(PCSK9):c.1504-16C>T
|
rs28362269
|
0.01510
|
NM_174936.4(PCSK9):c.*849T>C
|
rs28362292
|
0.01415
|
NM_174936.4(PCSK9):c.-287G>A
|
rs72658888
|
0.00941
|
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=)
|
rs28362262
|
0.00856
|
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)
|
rs28385701
|
0.00815
|
NM_174936.4(PCSK9):c.-26G>A
|
rs28362202
|
0.00715
|
NM_174936.4(PCSK9):c.1863+11C>G
|
rs72646526
|
0.00543
|
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)
|
rs28362285
|
0.00518
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00500
|
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=)
|
rs28362268
|
0.00488
|
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)
|
rs28362261
|
0.00485
|
NM_174936.4(PCSK9):c.*171C>T
|
rs557622245
|
0.00459
|
NM_174936.4(PCSK9):c.*234C>T
|
rs182138201
|
0.00375
|
NM_174936.4(PCSK9):c.1354+9G>T
|
rs72646516
|
0.00337
|
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=)
|
rs146960060
|
0.00289
|
NM_174936.4(PCSK9):c.*843G>A
|
rs28362291
|
0.00287
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
NM_174936.4(PCSK9):c.1681+17G>A
|
rs200529774
|
0.00238
|
NM_174936.4(PCSK9):c.753C>T (p.Arg251=)
|
rs28385710
|
0.00219
|
NM_174936.4(PCSK9):c.225T>C (p.Pro75=)
|
rs146563151
|
0.00191
|
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr)
|
rs72646509
|
0.00122
|
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)
|
rs148612296
|
0.00117
|
NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe)
|
rs72646508
|
0.00098
|
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)
|
rs146471967
|
0.00086
|
NM_174936.4(PCSK9):c.1929C>T (p.His643=)
|
rs145770391
|
0.00084
|
NM_174936.4(PCSK9):c.*1052C>T
|
rs149837083
|
0.00079
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)
|
rs140364657
|
0.00076
|
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)
|
rs145886902
|
0.00067
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_174936.4(PCSK9):c.*887C>T
|
rs756500786
|
0.00059
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_174936.4(PCSK9):c.*803G>A
|
rs529378080
|
0.00053
|
NM_174936.4(PCSK9):c.657+7A>C
|
rs72646506
|
0.00049
|
NM_174936.4(PCSK9):c.*232C>T
|
rs145330737
|
0.00048
|
NM_174936.4(PCSK9):c.*28G>A
|
rs189293781
|
0.00048
|
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=)
|
rs147599496
|
0.00048
|
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)
|
rs67608943
|
0.00048
|
NM_174936.4(PCSK9):c.1504-7C>T
|
rs72646520
|
0.00046
|
NM_174936.4(PCSK9):c.*1151del
|
rs563024336
|
0.00045
|
NM_174936.4(PCSK9):c.996+51A>G
|
rs45573036
|
0.00036
|
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly)
|
rs141995194
|
0.00034
|
NM_174936.4(PCSK9):c.1864-13C>T
|
rs147470944
|
0.00033
|
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=)
|
rs138178437
|
0.00033
|
NM_174936.4(PCSK9):c.336G>A (p.Leu112=)
|
rs79805678
|
0.00033
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
NM_174936.4(PCSK9):c.-331C>A
|
rs778796405
|
0.00026
|
NM_174936.4(PCSK9):c.799+26C>T
|
rs201405859
|
0.00025
|
NM_174936.4(PCSK9):c.1294G>A (p.Asp432Asn)
|
rs72646515
|
0.00024
|
NM_174936.4(PCSK9):c.*950C>T
|
rs72646537
|
0.00022
|
NM_174936.4(PCSK9):c.993C>T (p.Pro331=)
|
rs376753957
|
0.00022
|
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)
|
rs137878146
|
0.00020
|
NM_174936.4(PCSK9):c.1682-20C>A
|
rs372844138
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_174936.4(PCSK9):c.1980C>T (p.Asp660=)
|
rs371914056
|
0.00018
|
NM_174936.4(PCSK9):c.1773C>G (p.His591Gln)
|
rs529912877
|
0.00014
|
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)
|
rs151193009
|
0.00014
|
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys)
|
rs201395805
|
0.00013
|
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)
|
rs148562777
|
0.00012
|
NM_174936.4(PCSK9):c.1355-16C>G
|
rs28385713
|
0.00012
|
NM_174936.4(PCSK9):c.1855C>T (p.Gln619Ter)
|
rs142118418
|
0.00012
|
NM_174936.4(PCSK9):c.*368G>A
|
rs151125363
|
0.00011
|
NM_174936.4(PCSK9):c.1646G>A (p.Arg549His)
|
rs111400659
|
0.00011
|
NM_174936.4(PCSK9):c.384C>T (p.Gly128=)
|
rs72646503
|
0.00011
|
NM_174936.4(PCSK9):c.892A>G (p.Asn298Asp)
|
rs575003139
|
0.00011
|
NM_174936.4(PCSK9):c.*122C>T
|
rs751118819
|
0.00010
|
NM_174936.4(PCSK9):c.1011G>A (p.Gly337=)
|
rs746723269
|
0.00009
|
NM_174936.4(PCSK9):c.276G>A (p.Glu92=)
|
rs147865087
|
0.00009
|
NM_174936.3(PCSK9):c.-346G>C
|
rs886046426
|
0.00008
|
NM_174936.4(PCSK9):c.207+5G>A
|
rs1272703401
|
0.00008
|
NM_174936.4(PCSK9):c.267G>A (p.Ser89=)
|
rs373551845
|
0.00008
|
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln)
|
rs367620267
|
0.00008
|
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp)
|
rs141593516
|
0.00008
|
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser)
|
rs533273863
|
0.00008
|
NM_174936.4(PCSK9):c.*759G>A
|
rs886046447
|
0.00007
|
NM_174936.4(PCSK9):c.1116C>T (p.Ser372=)
|
rs1379493748
|
0.00007
|
NM_174936.4(PCSK9):c.1173C>T (p.His391=)
|
rs149097297
|
0.00007
|
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
|
rs200091654
|
0.00007
|
NM_174936.4(PCSK9):c.1492G>A (p.Glu498Lys)
|
rs145468572
|
0.00007
|
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val)
|
rs370751343
|
0.00007
|
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)
|
rs200856421
|
0.00007
|
NM_174936.4(PCSK9):c.799+8A>G
|
rs748933873
|
0.00007
|
NM_174936.4(PCSK9):c.1020T>C (p.Asn340=)
|
rs769782435
|
0.00006
|
NM_174936.4(PCSK9):c.1181-39C>T
|
rs372353877
|
0.00006
|
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)
|
rs146924245
|
0.00006
|
NM_174936.4(PCSK9):c.1300C>T (p.Arg434Trp)
|
rs757143429
|
0.00006
|
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro)
|
rs746115963
|
0.00006
|
NM_174936.4(PCSK9):c.1464T>C (p.Ser488=)
|
rs142229832
|
0.00006
|
NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser)
|
rs775521571
|
0.00006
|
NM_174936.4(PCSK9):c.1727C>T (p.Pro576Leu)
|
rs72646525
|
0.00006
|
NM_174936.4(PCSK9):c.1848G>A (p.Pro616=)
|
rs145264023
|
0.00006
|
NM_174936.4(PCSK9):c.1969A>G (p.Arg657Gly)
|
rs767286042
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_174936.4(PCSK9):c.310C>T (p.Arg104Cys)
|
rs369067856
|
0.00006
|
NM_174936.4(PCSK9):c.429C>T (p.Ile143=)
|
rs368511429
|
0.00006
|
NM_174936.4(PCSK9):c.471C>A (p.Asn157Lys)
|
rs143117125
|
0.00006
|
NM_174936.4(PCSK9):c.657+8C>T
|
rs376502208
|
0.00006
|
NM_174936.4(PCSK9):c.658-9G>A
|
rs757194881
|
0.00006
|
NM_174936.4(PCSK9):c.786C>T (p.Ser262=)
|
rs763759839
|
0.00006
|
NM_174936.4(PCSK9):c.939C>G (p.Thr313=)
|
rs534113572
|
0.00006
|
NM_174936.4(PCSK9):c.942T>C (p.Ala314=)
|
rs1026609359
|
0.00006
|
NM_174936.4(PCSK9):c.945C>T (p.Ala315=)
|
rs1378856006
|
0.00006
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr)
|
rs1026987232
|
0.00005
|
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=)
|
rs199815786
|
0.00005
|
NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile)
|
rs143291739
|
0.00005
|
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln)
|
rs754143671
|
0.00005
|
NM_174936.4(PCSK9):c.*1085G>A
|
rs886046450
|
0.00004
|
NM_174936.4(PCSK9):c.-140C>T
|
rs574653669
|
0.00004
|
NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn)
|
rs137852912
|
0.00004
|
NM_174936.4(PCSK9):c.1228G>A (p.Glu410Lys)
|
rs746085210
|
0.00004
|
NM_174936.4(PCSK9):c.1240A>C (p.Arg414=)
|
rs763406953
|
0.00004
|
NM_174936.4(PCSK9):c.126G>T (p.Val42=)
|
rs374142123
|
0.00004
|
NM_174936.4(PCSK9):c.1287C>A (p.Phe429Leu)
|
rs111427099
|
0.00004
|
NM_174936.4(PCSK9):c.1355-12C>T
|
rs28362267
|
0.00004
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
NM_174936.4(PCSK9):c.1539C>T (p.Asn513=)
|
rs781492750
|
0.00004
|
NM_174936.4(PCSK9):c.1605C>T (p.Ser535=)
|
rs751405776
|
0.00004
|
NM_174936.4(PCSK9):c.1681+10T>C
|
rs181296942
|
0.00004
|
NM_174936.4(PCSK9):c.1791C>T (p.His597=)
|
rs374856617
|
0.00004
|
NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr)
|
rs367606156
|
0.00004
|
NM_174936.4(PCSK9):c.1863+1G>A
|
rs765335983
|
0.00004
|
NM_174936.4(PCSK9):c.1975C>T (p.Arg659Trp)
|
rs147182054
|
0.00004
|
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly)
|
rs775077080
|
0.00004
|
NM_174936.4(PCSK9):c.2013C>T (p.Ala671=)
|
rs761714505
|
0.00004
|
NM_174936.4(PCSK9):c.2028C>T (p.Ala676=)
|
rs142524469
|
0.00004
|
NM_174936.4(PCSK9):c.2044C>T (p.Arg682Trp)
|
rs753308448
|
0.00004
|
NM_174936.4(PCSK9):c.2050C>G (p.Leu684Val)
|
rs201557607
|
0.00004
|
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)
|
rs185392267
|
0.00004
|
NM_174936.4(PCSK9):c.290G>A (p.Arg97His)
|
rs376385276
|
0.00004
|
NM_174936.4(PCSK9):c.382G>A (p.Gly128Ser)
|
rs766314770
|
0.00004
|
NM_174936.4(PCSK9):c.500G>A (p.Arg167Gln)
|
rs779384470
|
0.00004
|
NM_174936.4(PCSK9):c.504G>A (p.Ala168=)
|
rs776208295
|
0.00004
|
NM_174936.4(PCSK9):c.581G>A (p.Arg194Gln)
|
rs748155397
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_174936.4(PCSK9):c.657+1G>T
|
rs142824171
|
0.00004
|
NM_174936.4(PCSK9):c.697G>T (p.Val233Leu)
|
rs150169598
|
0.00004
|
NM_174936.4(PCSK9):c.717C>T (p.Ala239=)
|
rs370145766
|
0.00004
|
NM_174936.4(PCSK9):c.742C>T (p.Arg248Cys)
|
rs779824389
|
0.00004
|
NM_174936.4(PCSK9):c.752G>A (p.Arg251His)
|
rs376945520
|
0.00004
|
NM_174936.4(PCSK9):c.814C>T (p.Arg272Trp)
|
rs754744118
|
0.00004
|
NM_174936.4(PCSK9):c.829G>C (p.Val277Leu)
|
rs562011178
|
0.00004
|
NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser)
|
rs757753730
|
0.00003
|
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)
|
rs375582388
|
0.00003
|
NM_174936.4(PCSK9):c.1548G>A (p.Gly516=)
|
rs557227031
|
0.00003
|
NM_174936.4(PCSK9):c.1563C>T (p.Tyr521=)
|
rs771682043
|
0.00003
|
NM_174936.4(PCSK9):c.168C>G (p.Pro56=)
|
rs763029049
|
0.00003
|
NM_174936.4(PCSK9):c.1756A>G (p.Asn586Asp)
|
rs146035580
|
0.00003
|
NM_174936.4(PCSK9):c.1863+12C>T
|
rs776658758
|
0.00003
|
NM_174936.4(PCSK9):c.1863+6G>A
|
rs568853401
|
0.00003
|
NM_174936.4(PCSK9):c.1882G>A (p.Glu628Lys)
|
rs764653616
|
0.00003
|
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=)
|
rs1316935112
|
0.00003
|
NM_174936.4(PCSK9):c.1948G>A (p.Val650Ile)
|
rs767706622
|
0.00003
|
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp)
|
rs201280059
|
0.00003
|
NM_174936.4(PCSK9):c.208-16C>A
|
rs927208593
|
0.00003
|
NM_174936.4(PCSK9):c.208-7G>A
|
rs754232605
|
0.00003
|
NM_174936.4(PCSK9):c.228C>T (p.Gly76=)
|
rs376554821
|
0.00003
|
NM_174936.4(PCSK9):c.234C>T (p.Tyr78=)
|
rs779758641
|
0.00003
|
NM_174936.4(PCSK9):c.266C>T (p.Ser89Leu)
|
rs771978846
|
0.00003
|
NM_174936.4(PCSK9):c.278G>A (p.Arg93His)
|
rs763855534
|
0.00003
|
NM_174936.4(PCSK9):c.289C>T (p.Arg97Cys)
|
rs140319509
|
0.00003
|
NM_174936.4(PCSK9):c.298G>A (p.Ala100Thr)
|
rs564681731
|
0.00003
|
NM_174936.4(PCSK9):c.350G>A (p.Gly117Asp)
|
rs761417131
|
0.00003
|
NM_174936.4(PCSK9):c.523+2dup
|
rs773067887
|
0.00003
|
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn)
|
rs793888521
|
0.00003
|
NM_174936.4(PCSK9):c.658-10C>T
|
rs375695759
|
0.00003
|
NM_174936.4(PCSK9):c.721G>A (p.Val241Met)
|
rs147478188
|
0.00003
|
NM_174936.4(PCSK9):c.754G>A (p.Val252Met)
|
rs149139428
|
0.00003
|
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile)
|
rs201789841
|
0.00003
|
NM_174936.4(PCSK9):c.1035G>A (p.Pro345=)
|
rs767809932
|
0.00002
|
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His)
|
rs370507566
|
0.00002
|
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)
|
rs186669805
|
0.00002
|
NM_174936.4(PCSK9):c.1119C>T (p.Ser373=)
|
rs139683719
|
0.00002
|
NM_174936.4(PCSK9):c.1250A>G (p.His417Arg)
|
rs769163891
|
0.00002
|
NM_174936.4(PCSK9):c.1270A>G (p.Ile424Val)
|
rs759250273
|
0.00002
|
NM_174936.4(PCSK9):c.1303G>T (p.Val435Leu)
|
rs780948835
|
0.00002
|
NM_174936.4(PCSK9):c.136C>T (p.Arg46Cys)
|
rs747713772
|
0.00002
|
NM_174936.4(PCSK9):c.1483C>T (p.Arg495Trp)
|
rs758999339
|
0.00002
|
NM_174936.4(PCSK9):c.1503+13C>T
|
rs753546185
|
0.00002
|
NM_174936.4(PCSK9):c.1510G>T (p.Gly504Trp)
|
rs374455190
|
0.00002
|
NM_174936.4(PCSK9):c.1518G>A (p.Lys506=)
|
rs903946804
|
0.00002
|
NM_174936.4(PCSK9):c.1533C>T (p.Ala511=)
|
rs1033662150
|
0.00002
|
NM_174936.4(PCSK9):c.159C>T (p.Ala53=)
|
rs759214329
|
0.00002
|
NM_174936.4(PCSK9):c.1621C>T (p.Pro541Ser)
|
rs369996097
|
0.00002
|
NM_174936.4(PCSK9):c.1671C>T (p.His557=)
|
rs72646521
|
0.00002
|
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu)
|
rs765583923
|
0.00002
|
NM_174936.4(PCSK9):c.1735C>T (p.Leu579=)
|
rs751217094
|
0.00002
|
NM_174936.4(PCSK9):c.1745G>A (p.Arg582Gln)
|
rs745333538
|
0.00002
|
NM_174936.4(PCSK9):c.1863+20C>T
|
rs760064829
|
0.00002
|
NM_174936.4(PCSK9):c.1915C>G (p.Pro639Ala)
|
rs758249397
|
0.00002
|
NM_174936.4(PCSK9):c.1960T>C (p.Cys654Arg)
|
rs762968029
|
0.00002
|
NM_174936.4(PCSK9):c.1981G>A (p.Val661Ile)
|
rs375541628
|
0.00002
|
NM_174936.4(PCSK9):c.1991C>T (p.Thr664Ile)
|
rs369851423
|
0.00002
|
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile)
|
rs1235101437
|
0.00002
|
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=)
|
rs886046436
|
0.00002
|
NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp)
|
rs1426361407
|
0.00002
|
NM_174936.4(PCSK9):c.397C>T (p.Leu133=)
|
rs377361152
|
0.00002
|
NM_174936.4(PCSK9):c.420C>T (p.Val140=)
|
rs749630126
|
0.00002
|
NM_174936.4(PCSK9):c.526G>A (p.Gly176Arg)
|
rs141135099
|
0.00002
|
NM_174936.4(PCSK9):c.616G>A (p.Glu206Lys)
|
rs753857795
|
0.00002
|
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser)
|
rs149489325
|
0.00002
|
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser)
|
rs200146448
|
0.00002
|
NM_174936.4(PCSK9):c.885C>T (p.Arg295=)
|
rs554884005
|
0.00002
|
NM_174936.4(PCSK9):c.9C>T (p.Thr3=)
|
rs1465865735
|
0.00002
|
NM_174936.4(PCSK9):c.*265C>T
|
rs368297335
|
0.00001
|
NM_174936.4(PCSK9):c.-8T>C
|
rs886039837
|
0.00001
|
NM_174936.4(PCSK9):c.1004C>T (p.Thr335Ile)
|
rs779246166
|
0.00001
|
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)
|
rs371030381
|
0.00001
|
NM_174936.4(PCSK9):c.1023C>T (p.Ala341=)
|
rs1401778614
|
0.00001
|
NM_174936.4(PCSK9):c.1029C>T (p.Asp343=)
|
rs1159305130
|
0.00001
|
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)
|
rs764603059
|
0.00001
|
NM_174936.4(PCSK9):c.105C>T (p.Asp35=)
|
rs533474523
|
0.00001
|
NM_174936.4(PCSK9):c.1071C>T (p.Arg357=)
|
rs779288795
|
0.00001
|
NM_174936.4(PCSK9):c.1143A>G (p.Ser381=)
|
rs910186653
|
0.00001
|
NM_174936.4(PCSK9):c.1144C>T (p.Gln382Ter)
|
rs773363923
|
0.00001
|
NM_174936.4(PCSK9):c.1148G>A (p.Ser383Asn)
|
rs942292612
|
0.00001
|
NM_174936.4(PCSK9):c.1169C>T (p.Ala390Val)
|
rs1313288327
|
0.00001
|
NM_174936.4(PCSK9):c.1181-6C>T
|
rs1301884424
|
0.00001
|
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val)
|
rs376066497
|
0.00001
|
NM_174936.4(PCSK9):c.118G>A (p.Glu40Lys)
|
rs1416330878
|
0.00001
|
NM_174936.4(PCSK9):c.1192A>G (p.Met398Val)
|
rs766010409
|
0.00001
|
NM_174936.4(PCSK9):c.1211C>T (p.Pro404Leu)
|
rs140072072
|
0.00001
|
NM_174936.4(PCSK9):c.1247T>C (p.Ile416Thr)
|
rs1343534206
|
0.00001
|
NM_174936.4(PCSK9):c.1273A>G (p.Asn425Asp)
|
rs1644730027
|
0.00001
|
NM_174936.4(PCSK9):c.1276G>A (p.Glu426Lys)
|
rs1207777134
|
0.00001
|
NM_174936.4(PCSK9):c.1293G>A (p.Glu431=)
|
rs777706463
|
0.00001
|
NM_174936.4(PCSK9):c.1301G>A (p.Arg434Gln)
|
rs1416309628
|
0.00001
|
NM_174936.4(PCSK9):c.1310C>A (p.Thr437Asn)
|
rs746134573
|
0.00001
|
NM_174936.4(PCSK9):c.1323G>A (p.Val441=)
|
rs1365723695
|
0.00001
|
NM_174936.4(PCSK9):c.1334C>T (p.Pro445Leu)
|
rs769060209
|
0.00001
|
NM_174936.4(PCSK9):c.1355-9T>A
|
rs1266793671
|
0.00001
|
NM_174936.4(PCSK9):c.1371C>G (p.Cys457Trp)
|
rs771108863
|
0.00001
|
NM_174936.4(PCSK9):c.1406G>A (p.Arg469Gln)
|
rs1340689002
|
0.00001
|
NM_174936.4(PCSK9):c.1413C>T (p.Ala471=)
|
rs1357691724
|
0.00001
|
NM_174936.4(PCSK9):c.1419C>T (p.Ala473=)
|
rs775278198
|
0.00001
|
NM_174936.4(PCSK9):c.1422C>T (p.Val474=)
|
rs373517174
|
0.00001
|
NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr)
|
rs773699134
|
0.00001
|
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys)
|
rs761767572
|
0.00001
|
NM_174936.4(PCSK9):c.1427G>A (p.Arg476His)
|
rs376388695
|
0.00001
|
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)
|
rs1278890129
|
0.00001
|
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr)
|
rs537114569
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=)
|
rs986151799
|
0.00001
|
NM_174936.4(PCSK9):c.1504-15G>A
|
rs765073505
|
0.00001
|
NM_174936.4(PCSK9):c.1528C>T (p.Arg510Trp)
|
rs751649334
|
0.00001
|
NM_174936.4(PCSK9):c.1529G>A (p.Arg510Gln)
|
rs757804293
|
0.00001
|
NM_174936.4(PCSK9):c.1540G>A (p.Ala514Thr)
|
rs1447116791
|
0.00001
|
NM_174936.4(PCSK9):c.1560C>T (p.Val520=)
|
rs542863545
|
0.00001
|
NM_174936.4(PCSK9):c.1564G>A (p.Ala522Thr)
|
rs777300852
|
0.00001
|
NM_174936.4(PCSK9):c.1606G>A (p.Val536Ile)
|
rs776367625
|
0.00001
|
NM_174936.4(PCSK9):c.1643C>A (p.Thr548Asn)
|
rs368156218
|
0.00001
|
NM_174936.4(PCSK9):c.1645C>T (p.Arg549Cys)
|
rs763298843
|
0.00001
|
NM_174936.4(PCSK9):c.1652A>T (p.His551Leu)
|
rs1287224147
|
0.00001
|
NM_174936.4(PCSK9):c.165A>T (p.Ala55=)
|
rs1277316217
|
0.00001
|
NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile)
|
rs1277680499
|
0.00001
|
NM_174936.4(PCSK9):c.1681+39C>T
|
rs886039850
|
0.00001
|
NM_174936.4(PCSK9):c.1681+50T>C
|
rs758072703
|
0.00001
|
NM_174936.4(PCSK9):c.1686C>T (p.Cys562=)
|
rs762083133
|
0.00001
|
NM_174936.4(PCSK9):c.1690T>G (p.Ser564Ala)
|
rs1263043577
|
0.00001
|
NM_174936.4(PCSK9):c.1696T>C (p.Trp566Arg)
|
rs111563724
|
0.00001
|
NM_174936.4(PCSK9):c.1697G>C (p.Trp566Ser)
|
rs886046434
|
0.00001
|
NM_174936.4(PCSK9):c.1707G>A (p.Glu569=)
|
rs766827854
|
0.00001
|
NM_174936.4(PCSK9):c.1728G>A (p.Pro576=)
|
rs755272637
|
0.00001
|
NM_174936.4(PCSK9):c.1744C>T (p.Arg582Ter)
|
rs373323910
|
0.00001
|
NM_174936.4(PCSK9):c.1764C>T (p.Cys588=)
|
rs368516937
|
0.00001
|
NM_174936.4(PCSK9):c.1765G>A (p.Val589Met)
|
rs372586224
|
0.00001
|
NM_174936.4(PCSK9):c.1807G>A (p.Ala603Thr)
|
rs1245161747
|
0.00001
|
NM_174936.4(PCSK9):c.1812A>C (p.Pro604=)
|
rs777190873
|
0.00001
|
NM_174936.4(PCSK9):c.1827A>G (p.Lys609=)
|
rs765626863
|
0.00001
|
NM_174936.4(PCSK9):c.1839T>C (p.His613=)
|
rs767139884
|
0.00001
|
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp)
|
rs754936553
|
0.00001
|
NM_174936.4(PCSK9):c.1867A>G (p.Thr623Ala)
|
rs769112641
|
0.00001
|
NM_174936.4(PCSK9):c.186C>T (p.Ala62=)
|
rs1359899317
|
0.00001
|
NM_174936.4(PCSK9):c.1870G>A (p.Val624Met)
|
rs760437822
|
0.00001
|
NM_174936.4(PCSK9):c.1886G>A (p.Gly629Asp)
|
rs1261496250
|
0.00001
|
NM_174936.4(PCSK9):c.1899T>A (p.Thr633=)
|
rs1202472675
|
0.00001
|
NM_174936.4(PCSK9):c.1927C>G (p.His643Asp)
|
rs759818065
|
0.00001
|
NM_174936.4(PCSK9):c.1939G>T (p.Ala647Ser)
|
rs141438059
|
0.00001
|
NM_174936.4(PCSK9):c.1945G>A (p.Ala649Thr)
|
rs371744393
|
0.00001
|
NM_174936.4(PCSK9):c.1951G>T (p.Asp651Tyr)
|
rs770716587
|
0.00001
|
NM_174936.4(PCSK9):c.198C>T (p.Arg66=)
|
rs760439904
|
0.00001
|
NM_174936.4(PCSK9):c.1998C>A (p.Ser666Arg)
|
rs745578045
|
0.00001
|
NM_174936.4(PCSK9):c.2004C>A (p.Ser668Arg)
|
rs762298323
|
0.00001
|
NM_174936.4(PCSK9):c.2014G>A (p.Val672Met)
|
rs892210400
|
0.00001
|
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)
|
rs760981278
|
0.00001
|
NM_174936.4(PCSK9):c.2023del (p.Val675fs)
|
rs772102827
|
0.00001
|
NM_174936.4(PCSK9):c.202G>A (p.Ala68Thr)
|
rs778639605
|
0.00001
|
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp)
|
rs533555352
|
0.00001
|
NM_174936.4(PCSK9):c.2045G>A (p.Arg682Gln)
|
rs758946245
|
0.00001
|
NM_174936.4(PCSK9):c.2065C>T (p.Gln689Ter)
|
rs769487037
|
0.00001
|
NM_174936.4(PCSK9):c.207+6G>C
|
rs1306315743
|
0.00001
|
NM_174936.4(PCSK9):c.213G>A (p.Pro71=)
|
rs1243883156
|
0.00001
|
NM_174936.4(PCSK9):c.219G>T (p.Arg73Ser)
|
rs376944580
|
0.00001
|
NM_174936.4(PCSK9):c.242T>A (p.Val81Glu)
|
rs1048283339
|
0.00001
|
NM_174936.4(PCSK9):c.246G>A (p.Leu82=)
|
rs1570293864
|
0.00001
|
NM_174936.4(PCSK9):c.253G>A (p.Glu85Lys)
|
rs774506287
|
0.00001
|
NM_174936.4(PCSK9):c.27C>T (p.Ser9=)
|
rs562480265
|
0.00001
|
NM_174936.4(PCSK9):c.2T>G (p.Met1Arg)
|
rs1209186979
|
0.00001
|
NM_174936.4(PCSK9):c.313C>T (p.Arg105Trp)
|
rs747072726
|
0.00001
|
NM_174936.4(PCSK9):c.321C>T (p.Tyr107=)
|
rs886039840
|
0.00001
|
NM_174936.4(PCSK9):c.341T>C (p.Val114Ala)
|
rs775988212
|
0.00001
|
NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr)
|
rs968023760
|
0.00001
|
NM_174936.4(PCSK9):c.352C>T (p.Leu118Phe)
|
rs72658891
|
0.00001
|
NM_174936.4(PCSK9):c.35C>T (p.Pro12Leu)
|
rs760558712
|
0.00001
|
NM_174936.4(PCSK9):c.378G>A (p.Met126Ile)
|
rs749928920
|
0.00001
|
NM_174936.4(PCSK9):c.400-4G>T
|
rs751873016
|
0.00001
|
NM_174936.4(PCSK9):c.400-7T>C
|
rs866539996
|
0.00001
|
NM_174936.4(PCSK9):c.401C>A (p.Ala134Asp)
|
rs781466793
|
0.00001
|
NM_174936.4(PCSK9):c.404T>C (p.Leu135Ser)
|
rs745916051
|
0.00001
|
NM_174936.4(PCSK9):c.421G>A (p.Asp141Asn)
|
rs769000401
|
0.00001
|
NM_174936.4(PCSK9):c.42_44del (p.Leu23del)
|
rs1453893690
|
0.00001
|
NM_174936.4(PCSK9):c.447C>T (p.Val149=)
|
rs758997842
|
0.00001
|
NM_174936.4(PCSK9):c.464C>T (p.Pro155Leu)
|
rs775429340
|
0.00001
|
NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp)
|
rs200505188
|
0.00001
|
NM_174936.4(PCSK9):c.503C>T (p.Ala168Val)
|
rs770592607
|
0.00001
|
NM_174936.4(PCSK9):c.517C>T (p.Pro173Ser)
|
rs1346692733
|
0.00001
|
NM_174936.4(PCSK9):c.523+13T>A
|
rs1251178109
|
0.00001
|
NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn)
|
rs150898485
|
0.00001
|
NM_174936.4(PCSK9):c.524-12C>T
|
rs769681001
|
0.00001
|
NM_174936.4(PCSK9):c.524-7T>C
|
rs1430039188
|
0.00001
|
NM_174936.4(PCSK9):c.529G>T (p.Gly177Cys)
|
rs778157885
|
0.00001
|
NM_174936.4(PCSK9):c.530G>A (p.Gly177Asp)
|
rs368899514
|
0.00001
|
NM_174936.4(PCSK9):c.533G>A (p.Ser178Asn)
|
rs755818478
|
0.00001
|
NM_174936.4(PCSK9):c.561C>A (p.Thr187=)
|
rs955998985
|
0.00001
|
NM_174936.4(PCSK9):c.589G>A (p.Glu197Lys)
|
rs772114791
|
0.00001
|
NM_174936.4(PCSK9):c.592G>A (p.Gly198Ser)
|
rs764087262
|
0.00001
|
NM_174936.4(PCSK9):c.611A>G (p.Asp204Gly)
|
rs1469436928
|
0.00001
|
NM_174936.4(PCSK9):c.612C>T (p.Asp204=)
|
rs776649189
|
0.00001
|
NM_174936.4(PCSK9):c.615C>T (p.Phe205=)
|
rs759797943
|
0.00001
|
NM_174936.4(PCSK9):c.628G>A (p.Glu210Lys)
|
rs1302868036
|
0.00001
|
NM_174936.4(PCSK9):c.636C>T (p.Asp212=)
|
rs757510932
|
0.00001
|
NM_174936.4(PCSK9):c.637G>A (p.Gly213Arg)
|
rs267598661
|
0.00001
|
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys)
|
rs753505066
|
0.00001
|
NM_174936.4(PCSK9):c.645C>T (p.Arg215=)
|
rs754648024
|
0.00001
|
NM_174936.4(PCSK9):c.658-13G>A
|
rs757913842
|
0.00001
|
NM_174936.4(PCSK9):c.658-6G>A
|
rs745633457
|
0.00001
|
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr)
|
rs768795323
|
0.00001
|
NM_174936.4(PCSK9):c.660_667del (p.Ala220_Ser221insTer)
|
rs749813311
|
0.00001
|
NM_174936.4(PCSK9):c.66C>T (p.Leu22=)
|
rs926463199
|
0.00001
|
NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser)
|
rs1479030404
|
0.00001
|
NM_174936.4(PCSK9):c.710G>A (p.Arg237Gln)
|
rs758109994
|
0.00001
|
NM_174936.4(PCSK9):c.718G>A (p.Gly240Ser)
|
rs751048732
|
0.00001
|
NM_174936.4(PCSK9):c.724G>A (p.Ala242Thr)
|
rs1238510123
|
0.00001
|
NM_174936.4(PCSK9):c.743G>A (p.Arg248His)
|
rs749573024
|
0.00001
|
NM_174936.4(PCSK9):c.747C>A (p.Ser249Arg)
|
rs768846693
|
0.00001
|
NM_174936.4(PCSK9):c.751C>T (p.Arg251Cys)
|
rs778900671
|
0.00001
|
NM_174936.4(PCSK9):c.755del (p.Val252fs)
|
rs779469742
|
0.00001
|
NM_174936.4(PCSK9):c.76G>A (p.Ala26Thr)
|
rs1553135400
|
0.00001
|
NM_174936.4(PCSK9):c.772A>G (p.Lys258Glu)
|
rs771479424
|
0.00001
|
NM_174936.4(PCSK9):c.779C>T (p.Thr260Met)
|
rs777111934
|
0.00001
|
NM_174936.4(PCSK9):c.77C>T (p.Ala26Val)
|
rs1413443246
|
0.00001
|
NM_174936.4(PCSK9):c.781G>C (p.Val261Leu)
|
rs1644685409
|
0.00001
|
NM_174936.4(PCSK9):c.799+10G>C
|
rs1007493174
|
0.00001
|
NM_174936.4(PCSK9):c.800-3C>T
|
rs749915837
|
0.00001
|
NM_174936.4(PCSK9):c.831C>G (p.Val277=)
|
rs138038246
|
0.00001
|
NM_174936.4(PCSK9):c.839T>C (p.Val280Ala)
|
rs1000735676
|
0.00001
|
NM_174936.4(PCSK9):c.869C>A (p.Ala290Glu)
|
rs1354172136
|
0.00001
|
NM_174936.4(PCSK9):c.884G>A (p.Arg295His)
|
rs775707869
|
0.00001
|
NM_174936.4(PCSK9):c.886G>A (p.Val296Ile)
|
rs771594920
|
0.00001
|
NM_174936.4(PCSK9):c.894C>T (p.Asn298=)
|
rs1157271008
|
0.00001
|
NM_174936.4(PCSK9):c.905A>G (p.Gln302Arg)
|
rs759388119
|
0.00001
|
NM_174936.4(PCSK9):c.914C>T (p.Ala305Val)
|
rs1239236028
|
0.00001
|
NM_174936.4(PCSK9):c.936C>T (p.Val312=)
|
rs752401519
|
0.00001
|
NM_174936.4(PCSK9):c.955C>T (p.Arg319Trp)
|
rs746442570
|
0.00001
|
NM_174936.4(PCSK9):c.960C>T (p.Asp320=)
|
rs910368517
|
0.00001
|
NM_174936.4(PCSK9):c.961G>A (p.Asp321Asn)
|
rs780509319
|
0.00001
|
NM_174936.4(PCSK9):c.97G>A (p.Asp33Asn)
|
rs917219621
|
0.00001
|
NC_000001.10:g.(?_55505511)_(55505737_?)dup
|
|
|
NC_000001.11:g.(?_55043823)_(55044054_?)del
|
|
|
NC_000001.11:g.55030366T>C
|
rs11206510
|
|
NM_174936.3(PCSK9):c.-308A>G
|
|
|
NM_174936.3(PCSK9):c.-353G>T
|
rs886046425
|
|
NM_174936.4(PCSK9):c.*1093C>T
|
rs1644788769
|
|
NM_174936.4(PCSK9):c.*1154C>A
|
rs886046451
|
|
NM_174936.4(PCSK9):c.*1170_*1173dup
|
rs377553033
|
|
NM_174936.4(PCSK9):c.*1229G>T
|
rs886046453
|
|
NM_174936.4(PCSK9):c.*1247AAAC[2]
|
rs368406783
|
|
NM_174936.4(PCSK9):c.*152G>T
|
rs886046438
|
|
NM_174936.4(PCSK9):c.*179T>C
|
rs1644781169
|
|
NM_174936.4(PCSK9):c.*207G>A
|
rs780774423
|
|
NM_174936.4(PCSK9):c.*274C>A
|
rs886046439
|
|
NM_174936.4(PCSK9):c.*276C>T
|
rs1570311846
|
|
NM_174936.4(PCSK9):c.*404G>A
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*404G>C
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*426C>A
|
rs886046441
|
|
NM_174936.4(PCSK9):c.*448dup
|
rs72646533
|
|
NM_174936.4(PCSK9):c.*464C>A
|
rs886046442
|
|
NM_174936.4(PCSK9):c.*470G>A
|
rs886046443
|
|
NM_174936.4(PCSK9):c.*488C>A
|
rs886046444
|
|
NM_174936.4(PCSK9):c.*509C>A
|
rs886046445
|
|
NM_174936.4(PCSK9):c.*548T>C
|
rs886046446
|
|
NM_174936.4(PCSK9):c.*58A>G
|
rs886046437
|
|
NM_174936.4(PCSK9):c.*666G>A
|
rs762427407
|
|
NM_174936.4(PCSK9):c.*785C>A
|
rs886046448
|
|
NM_174936.4(PCSK9):c.*78C>T
|
rs757944328
|
|
NM_174936.4(PCSK9):c.*846G>T
|
rs886046449
|
|
NM_174936.4(PCSK9):c.*863A>G
|
rs1644786278
|
|
NM_174936.4(PCSK9):c.*90C>G
|
rs549317206
|
|
NM_174936.4(PCSK9):c.*980A>G
|
rs1644787207
|
|
NM_174936.4(PCSK9):c.-10C>T
|
|
|
NM_174936.4(PCSK9):c.-168C>A
|
rs1553135350
|
|
NM_174936.4(PCSK9):c.-180T>G
|
rs886046431
|
|
NM_174936.4(PCSK9):c.-185A>G
|
rs886046430
|
|
NM_174936.4(PCSK9):c.-200C>A
|
rs886046429
|
|
NM_174936.4(PCSK9):c.-221T>G
|
rs886046428
|
|
NM_174936.4(PCSK9):c.-237T>G
|
rs886046427
|
|
NM_174936.4(PCSK9):c.-245G>C
|
rs28362201
|
|
NM_174936.4(PCSK9):c.-245G>T
|
rs28362201
|
|
NM_174936.4(PCSK9):c.-4C>A
|
|
|
NM_174936.4(PCSK9):c.-67C>A
|
rs886039836
|
|
NM_174936.4(PCSK9):c.-68C>T
|
rs1644583178
|
|
NM_174936.4(PCSK9):c.-73A>G
|
rs886039835
|
|
NM_174936.4(PCSK9):c.-7G>A
|
|
|
NM_174936.4(PCSK9):c.-8del
|
|
|
NM_174936.4(PCSK9):c.-9C>T
|
rs1225046798
|
|
NM_174936.4(PCSK9):c.1002C>G (p.Ile334Met)
|
rs1252162207
|
|
NM_174936.4(PCSK9):c.1007_1032del (p.Val336fs)
|
rs1644722756
|
|
NM_174936.4(PCSK9):c.1009G>A (p.Gly337Arg)
|
|
|
NM_174936.4(PCSK9):c.1011G>T (p.Gly337=)
|
rs746723269
|
|
NM_174936.4(PCSK9):c.1014C>T (p.Ala338=)
|
|
|
NM_174936.4(PCSK9):c.1017C>T (p.Thr339=)
|
rs1557506219
|
|
NM_174936.4(PCSK9):c.1018_1021dup (p.Ala341fs)
|
|
|
NM_174936.4(PCSK9):c.1019A>G (p.Asn340Ser)
|
|
|
NM_174936.4(PCSK9):c.1026_1028delinsGGG (p.Asp343Gly)
|
rs2100320056
|
|
NM_174936.4(PCSK9):c.1027G>A (p.Asp343Asn)
|
|
|
NM_174936.4(PCSK9):c.1030C>A (p.Gln344Lys)
|
|
|
NM_174936.4(PCSK9):c.1030C>T (p.Gln344Ter)
|
rs72646513
|
|
NM_174936.4(PCSK9):c.1031A>G (p.Gln344Arg)
|
rs2100320153
|
|
NM_174936.4(PCSK9):c.1041C>A (p.Thr347=)
|
rs2100320214
|
|
NM_174936.4(PCSK9):c.1042C>T (p.Leu348=)
|
rs750542221
|
|
NM_174936.4(PCSK9):c.1044G>A (p.Leu348=)
|
rs1423534032
|
|
NM_174936.4(PCSK9):c.1047del (p.Thr350fs)
|
|
|
NM_174936.4(PCSK9):c.1048A>T (p.Thr350Ser)
|
|
|
NM_174936.4(PCSK9):c.1054G>A (p.Gly352Arg)
|
|
|
NM_174936.4(PCSK9):c.1055G>A (p.Gly352Glu)
|
|
|
NM_174936.4(PCSK9):c.1056G>A (p.Gly352=)
|
rs1304477848
|
|
NM_174936.4(PCSK9):c.1060A>T (p.Asn354Tyr)
|
|
|
NM_174936.4(PCSK9):c.1061A>T (p.Asn354Ile)
|
rs1553137543
|
|
NM_174936.4(PCSK9):c.1062C>T (p.Asn354=)
|
|
|
NM_174936.4(PCSK9):c.106_111dup (p.Asp37_Tyr38insGlyAsp)
|
|
|
NM_174936.4(PCSK9):c.1070G>T (p.Arg357Leu)
|
|
|
NM_174936.4(PCSK9):c.1073G>A (p.Cys358Tyr)
|
|
|
NM_174936.4(PCSK9):c.1075G>A (p.Val359Met)
|
|
|
NM_174936.4(PCSK9):c.107G>A (p.Gly36Asp)
|
|
|
NM_174936.4(PCSK9):c.1081C>T (p.Leu361Phe)
|
|
|
NM_174936.4(PCSK9):c.1082T>A (p.Leu361His)
|
|
|
NM_174936.4(PCSK9):c.1089C>T (p.Ala363=)
|
|
|
NM_174936.4(PCSK9):c.108C>T (p.Gly36=)
|
|
|
NM_174936.4(PCSK9):c.1095G>A (p.Gly365=)
|
rs780649814
|
|
NM_174936.4(PCSK9):c.1096G>A (p.Glu366Lys)
|
rs1644723918
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.1099G>T (p.Asp367Tyr)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.10G>C (p.Val4Leu)
|
rs186669805
|
|
NM_174936.4(PCSK9):c.1109G>A (p.Gly370Asp)
|
|
|
NM_174936.4(PCSK9):c.1115C>T (p.Ser372Phe)
|
rs2100320685
|
|
NM_174936.4(PCSK9):c.1118G>T (p.Ser373Ile)
|
|
|
NM_174936.4(PCSK9):c.1119C>A (p.Ser373Arg)
|
rs139683719
|
|
NM_174936.4(PCSK9):c.1119C>G (p.Ser373Arg)
|
rs139683719
|
|
NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu)
|
|
|
NM_174936.4(PCSK9):c.1120G>C (p.Asp374His)
|
rs137852912
|
|
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)
|
rs137852912
|
|
NM_174936.4(PCSK9):c.1123T>G (p.Cys375Gly)
|
rs1644724189
|
|
NM_174936.4(PCSK9):c.1127G>C (p.Ser376Thr)
|
|
|
NM_174936.4(PCSK9):c.1128C>G (p.Ser376Arg)
|
|
|
NM_174936.4(PCSK9):c.1130C>A (p.Thr377Asn)
|
rs760947578
|
|
NM_174936.4(PCSK9):c.1130C>G (p.Thr377Ser)
|
rs760947578
|
|
NM_174936.4(PCSK9):c.1131C>T (p.Thr377=)
|
rs2100320831
|
|
NM_174936.4(PCSK9):c.1132T>G (p.Cys378Gly)
|
|
|
NM_174936.4(PCSK9):c.1133_1134delinsAA (p.Cys378Ter)
|
rs1553137557
|
|
NM_174936.4(PCSK9):c.1134C>G (p.Cys378Trp)
|
rs776752113
|
|
NM_174936.4(PCSK9):c.1134C>T (p.Cys378=)
|
|
|
NM_174936.4(PCSK9):c.113A>G (p.Tyr38Cys)
|
|
|
NM_174936.4(PCSK9):c.1144_1145del (p.Gln382fs)
|
rs751063800
|
|
NM_174936.4(PCSK9):c.1147A>C (p.Ser383Arg)
|
rs1644724470
|
|
NM_174936.4(PCSK9):c.1147dup (p.Ser383fs)
|
|
|
NM_174936.4(PCSK9):c.1149del (p.Ser383fs)
|
rs1557506363
|
|
NM_174936.4(PCSK9):c.114C>T (p.Tyr38=)
|
|
|
NM_174936.4(PCSK9):c.1158A>C (p.Ser386=)
|
rs2100320993
|
|
NM_174936.4(PCSK9):c.115G>A (p.Glu39Lys)
|
rs781590513
|
|
NM_174936.4(PCSK9):c.1174G>A (p.Val392Met)
|
rs1254346075
|
|
NM_174936.4(PCSK9):c.1180+16A>G
|
|
|
NM_174936.4(PCSK9):c.1180+19G>A
|
|
|
NM_174936.4(PCSK9):c.1180+1G>T
|
|
|
NM_174936.4(PCSK9):c.1180+22T>C
|
rs886039848
|
|
NM_174936.4(PCSK9):c.1180+7C>T
|
|
|
NM_174936.4(PCSK9):c.1180+8A>G
|
|
|
NM_174936.4(PCSK9):c.1180+9C>T
|
|
|
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
|
|
|
NM_174936.4(PCSK9):c.1181-12C>A
|
rs1644728950
|
|
NM_174936.4(PCSK9):c.1181-13A>G
|
|
|
NM_174936.4(PCSK9):c.1181-2A>G
|
|
|
NM_174936.4(PCSK9):c.1181-3C>T
|
|
|
NM_174936.4(PCSK9):c.1181-3del
|
|
|
NM_174936.4(PCSK9):c.1181-53T>C
|
rs886039849
|
|
NM_174936.4(PCSK9):c.1181-9delinsTT
|
rs1644728981
|
|
NM_174936.4(PCSK9):c.1182C>A (p.Gly394=)
|
rs1644729067
|
|
NM_174936.4(PCSK9):c.1187C>T (p.Ala396Val)
|
rs1644729088
|
|
NM_174936.4(PCSK9):c.1197G>A (p.Met399Ile)
|
rs1359876864
|
|
NM_174936.4(PCSK9):c.1201T>A (p.Ser401Thr)
|
|
|
NM_174936.4(PCSK9):c.1204G>T (p.Ala402Ser)
|
rs533612423
|
|
NM_174936.4(PCSK9):c.1207G>A (p.Glu403Lys)
|
rs778562344
|
|
NM_174936.4(PCSK9):c.1207G>C (p.Glu403Gln)
|
|
|
NM_174936.4(PCSK9):c.120G>A (p.Glu40=)
|
|
|
NM_174936.4(PCSK9):c.1212G>C (p.Pro404=)
|
rs777470856
|
|
NM_174936.4(PCSK9):c.1212G>T (p.Pro404=)
|
rs777470856
|
|
NM_174936.4(PCSK9):c.1214A>G (p.Glu405Gly)
|
|
|
NM_174936.4(PCSK9):c.1216C>T (p.Leu406Phe)
|
|
|
NM_174936.4(PCSK9):c.1228G>C (p.Glu410Gln)
|
|
|
NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)
|
|
|
NM_174936.4(PCSK9):c.1233G>A (p.Leu411=)
|
rs1644729518
|
|
NM_174936.4(PCSK9):c.1236G>A (p.Arg412=)
|
rs1644729563
|
|
NM_174936.4(PCSK9):c.123G>C (p.Leu41=)
|
rs1644585765
|
|
NM_174936.4(PCSK9):c.1254C>A (p.Phe418Leu)
|
rs1378713223
|
|
NM_174936.4(PCSK9):c.1254C>T (p.Phe418=)
|
rs1378713223
|
|
NM_174936.4(PCSK9):c.1260del (p.Asp422fs)
|
rs1311197628
|
|
NM_174936.4(PCSK9):c.1264G>C (p.Asp422His)
|
|
|
NM_174936.4(PCSK9):c.1266T>C (p.Asp422=)
|
rs1215843842
|
|
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala)
|
rs555751342
|
|
NM_174936.4(PCSK9):c.1280C>G (p.Ala427Gly)
|
|
|
NM_174936.4(PCSK9):c.1289C>T (p.Pro430Leu)
|
rs1644730203
|
|
NM_174936.4(PCSK9):c.1297C>T (p.Gln433Ter)
|
|
|
NM_174936.4(PCSK9):c.12C>T (p.Val4=)
|
|
|
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu)
|
rs886046432
|
|
NM_174936.4(PCSK9):c.1304T>A (p.Val435Glu)
|
|
|
NM_174936.4(PCSK9):c.1308G>C (p.Leu436=)
|
|
|
NM_174936.4(PCSK9):c.1309A>T (p.Thr437Ser)
|
rs1644730429
|
|
NM_174936.4(PCSK9):c.1310C>T (p.Thr437Ile)
|
|
|
NM_174936.4(PCSK9):c.1311C>A (p.Thr437=)
|
|
|
NM_174936.4(PCSK9):c.1314del (p.Asn439fs)
|
|
|
NM_174936.4(PCSK9):c.1318C>A (p.Leu440Met)
|
|
|
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
|
|
|
NM_174936.4(PCSK9):c.1327_1334del (p.Ala443fs)
|
|
|
NM_174936.4(PCSK9):c.132C>T (p.Ala44=)
|
rs1178309760
|
|
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=)
|
rs886046433
|
|
NM_174936.4(PCSK9):c.1333C>T (p.Pro445Ser)
|
rs761383351
|
|
NM_174936.4(PCSK9):c.1334C>A (p.Pro445His)
|
rs769060209
|
|
NM_174936.4(PCSK9):c.1334C>G (p.Pro445Arg)
|
|
|
NM_174936.4(PCSK9):c.1335C>G (p.Pro445=)
|
|
|
NM_174936.4(PCSK9):c.1335C>T (p.Pro445=)
|
rs1200168752
|
|
NM_174936.4(PCSK9):c.1337C>T (p.Pro446Leu)
|
|
|
NM_174936.4(PCSK9):c.1338C>T (p.Pro446=)
|
rs1644730812
|
|
NM_174936.4(PCSK9):c.1345_1346del (p.His449fs)
|
|
|
NM_174936.4(PCSK9):c.1351G>T (p.Ala451Ser)
|
rs983143621
|
|
NM_174936.4(PCSK9):c.1354+12G>A
|
|
|
NM_174936.4(PCSK9):c.1354+17G>A
|
|
|
NM_174936.4(PCSK9):c.1354+1G>A
|
|
|
NM_174936.4(PCSK9):c.1354G>C (p.Gly452Arg)
|
rs1173147037
|
|
NM_174936.4(PCSK9):c.1355-10C>T
|
|
|
NM_174936.4(PCSK9):c.1355-4G>T
|
rs1644733187
|
|
NM_174936.4(PCSK9):c.1355-6T>C
|
|
|
NM_174936.4(PCSK9):c.1355G>A (p.Gly452Asp)
|
|
|
NM_174936.4(PCSK9):c.1356T>G (p.Gly452=)
|
rs886038746
|
|
NM_174936.4(PCSK9):c.1359G>A (p.Trp453Ter)
|
|
|
NM_174936.4(PCSK9):c.1359G>C (p.Trp453Cys)
|
|
|
NM_174936.4(PCSK9):c.135G>A (p.Leu45=)
|
|
|
NM_174936.4(PCSK9):c.136C>A (p.Arg46Ser)
|
|
|
NM_174936.4(PCSK9):c.1371C>T (p.Cys457=)
|
rs771108863
|
|
NM_174936.4(PCSK9):c.1372A>G (p.Arg458Gly)
|
|
|
NM_174936.4(PCSK9):c.1375A>G (p.Thr459Ala)
|
|
|
NM_174936.4(PCSK9):c.1376C>G (p.Thr459Ser)
|
rs1644733348
|
|
NM_174936.4(PCSK9):c.1377T>C (p.Thr459=)
|
|
|
NM_174936.4(PCSK9):c.1377T>G (p.Thr459=)
|
|
|
NM_174936.4(PCSK9):c.1378G>A (p.Val460Ile)
|
|
|
NM_174936.4(PCSK9):c.1378_1380delinsATG (p.Val460Met)
|
rs1644733403
|
|
NM_174936.4(PCSK9):c.1378_1380delinsTG (p.Val460fs)
|
rs1644733412
|
|
NM_174936.4(PCSK9):c.1378del (p.Val460fs)
|
|
|
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
|
|
|
NM_174936.4(PCSK9):c.1380_1382delinsGTA (p.Trp461Ter)
|
rs1644733538
|
|
NM_174936.4(PCSK9):c.1390C>G (p.His464Asp)
|
|
|
NM_174936.4(PCSK9):c.1390C>T (p.His464Tyr)
|
|
|
NM_174936.4(PCSK9):c.1392C>G (p.His464Gln)
|
|
|
NM_174936.4(PCSK9):c.1394C>A (p.Ser465Ter)
|
|
|
NM_174936.4(PCSK9):c.1394C>G (p.Ser465Trp)
|
|
|
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)
|
rs778849441
|
|
NM_174936.4(PCSK9):c.1395G>C (p.Ser465=)
|
|
|
NM_174936.4(PCSK9):c.1397G>A (p.Gly466Glu)
|
|
|
NM_174936.4(PCSK9):c.1401T>A (p.Pro467=)
|
rs1380003284
|
|
NM_174936.4(PCSK9):c.1402A>G (p.Thr468Ala)
|
rs1553137693
|
|
NM_174936.4(PCSK9):c.1403C>T (p.Thr468Ile)
|
rs1478694424
|
|
NM_174936.4(PCSK9):c.1404A>G (p.Thr468=)
|
rs1378159870
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_174936.4(PCSK9):c.1407G>T (p.Arg469=)
|
rs747317254
|
|
NM_174936.4(PCSK9):c.140C>A (p.Ser47Tyr)
|
|
|
NM_174936.4(PCSK9):c.140C>G (p.Ser47Cys)
|
rs1372204035
|
|
NM_174936.4(PCSK9):c.1411G>T (p.Ala471Ser)
|
rs1553137699
|
|
NM_174936.4(PCSK9):c.1413C>A (p.Ala471=)
|
rs1357691724
|
|
NM_174936.4(PCSK9):c.1415C>T (p.Thr472Ile)
|
rs1644734019
|
|
NM_174936.4(PCSK9):c.1416A>G (p.Thr472=)
|
|
|
NM_174936.4(PCSK9):c.1418C>G (p.Ala473Gly)
|
|
|
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
|
|
|
NM_174936.4(PCSK9):c.1420_1422delinsATT (p.Val474Ile)
|
rs1644734137
|
|
NM_174936.4(PCSK9):c.142G>T (p.Glu48Ter)
|
rs1278890129
|
|
NM_174936.4(PCSK9):c.1430G>A (p.Cys477Tyr)
|
|
|
NM_174936.4(PCSK9):c.1433C>T (p.Ala478Val)
|
|
|
NM_174936.4(PCSK9):c.1441G>A (p.Glu481Lys)
|
rs2100326154
|
|
NM_174936.4(PCSK9):c.1443G>A (p.Glu481=)
|
|
|
NM_174936.4(PCSK9):c.1446G>A (p.Glu482=)
|
|
|
NM_174936.4(PCSK9):c.1447C>G (p.Leu483Val)
|
rs1570307690
|
|
NM_174936.4(PCSK9):c.1449G>T (p.Leu483=)
|
|
|
NM_174936.4(PCSK9):c.144GGA[1] (p.Glu49del)
|
|
|
NM_174936.4(PCSK9):c.1452G>A (p.Leu484=)
|
rs755134162
|
|
NM_174936.4(PCSK9):c.1455C>T (p.Ser485=)
|
|
|
NM_174936.4(PCSK9):c.1467C>G (p.Phe489Leu)
|
rs2100326325
|
|
NM_174936.4(PCSK9):c.1473G>T (p.Arg491Ser)
|
|
|
NM_174936.4(PCSK9):c.1479G>C (p.Gly493=)
|
rs1557507221
|
|
NM_174936.4(PCSK9):c.1479del (p.Lys494fs)
|
|
|
NM_174936.4(PCSK9):c.147G>A (p.Glu49=)
|
rs747002272
|
|
NM_174936.4(PCSK9):c.147G>C (p.Glu49Asp)
|
|
|
NM_174936.4(PCSK9):c.1480A>G (p.Lys494Glu)
|
rs1553137710
|
|
NM_174936.4(PCSK9):c.1482G>A (p.Lys494=)
|
rs1644734716
|
|
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln)
|
rs370574590
|
|
NM_174936.4(PCSK9):c.1484G>T (p.Arg495Leu)
|
rs370574590
|
|
NM_174936.4(PCSK9):c.148G>C (p.Asp50His)
|
|
|
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His)
|
rs143394031
|
|
NM_174936.4(PCSK9):c.1496G>C (p.Arg499Pro)
|
rs143394031
|
|
NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu)
|
rs143394031
|
|
NM_174936.4(PCSK9):c.1499T>C (p.Met500Thr)
|
|
|
NM_174936.4(PCSK9):c.1501G>A (p.Glu501Lys)
|
rs1377720240
|
|
NM_174936.4(PCSK9):c.1503+16C>T
|
|
|
NM_174936.4(PCSK9):c.1503+20GT[13]
|
|
|
NM_174936.4(PCSK9):c.1503+20GT[14]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[15]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[16]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[17]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[18]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[19]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[20]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[21]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[22]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[23]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[24]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[25]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[27]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[28]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[29]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[30]
|
rs35115360
|
|
NM_174936.4(PCSK9):c.1503+20GT[31]
|
|
|
NM_174936.4(PCSK9):c.1503+20GT[32]
|
|
|
NM_174936.4(PCSK9):c.1503+4A>T
|
|
|
NM_174936.4(PCSK9):c.1503+6_1503+15dup
|
rs1449545218
|
|
NM_174936.4(PCSK9):c.1503+7G>C
|
|
|
NM_174936.4(PCSK9):c.1504-5C>G
|
rs763241481
|
|
NM_174936.4(PCSK9):c.1504-5C>T
|
rs763241481
|
|
NM_174936.4(PCSK9):c.1504-5_1504-4del
|
rs755817854
|
|
NM_174936.4(PCSK9):c.1509A>C (p.Gln503His)
|
|
|
NM_174936.4(PCSK9):c.150C>T (p.Asp50=)
|
|
|
NM_174936.4(PCSK9):c.1511G>A (p.Gly504Glu)
|
rs1427178819
|
|
NM_174936.4(PCSK9):c.1514dup (p.Lys506fs)
|
rs1644742420
|
|
NM_174936.4(PCSK9):c.1515C>A (p.Gly505=)
|
rs1042826452
|
|
NM_174936.4(PCSK9):c.1518G>C (p.Lys506Asn)
|
rs903946804
|
|
NM_174936.4(PCSK9):c.1519C>T (p.Leu507=)
|
|
|
NM_174936.4(PCSK9):c.151G>T (p.Gly51Cys)
|
|
|
NM_174936.4(PCSK9):c.152G>A (p.Gly51Asp)
|
|
|
NM_174936.4(PCSK9):c.1531G>C (p.Ala511Pro)
|
|
|
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp)
|
rs1057516136
|
|
NM_174936.4(PCSK9):c.1538del (p.Asn513fs)
|
rs2100330364
|
|
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
|
|
|
NM_174936.4(PCSK9):c.1549G>A (p.Gly517Ser)
|
|
|
NM_174936.4(PCSK9):c.154C>T (p.Leu52=)
|
|
|
NM_174936.4(PCSK9):c.1550G>T (p.Gly517Val)
|
rs1182044412
|
|
NM_174936.4(PCSK9):c.1555G>A (p.Gly519Ser)
|
rs2100330525
|
|
NM_174936.4(PCSK9):c.1556G>A (p.Gly519Asp)
|
|
|
NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)
|
|
|
NM_174936.4(PCSK9):c.1560C>A (p.Val520=)
|
|
|
NM_174936.4(PCSK9):c.1567A>G (p.Ile523Val)
|
|
|
NM_174936.4(PCSK9):c.156G>A (p.Leu52=)
|
rs1231649101
|
|
NM_174936.4(PCSK9):c.156G>C (p.Leu52=)
|
rs1231649101
|
|
NM_174936.4(PCSK9):c.156G>T (p.Leu52=)
|
rs1231649101
|
|
NM_174936.4(PCSK9):c.156_158delinsAGT (p.Ala53Val)
|
rs1644586405
|
|
NM_174936.4(PCSK9):c.1570G>C (p.Ala524Pro)
|
rs746457760
|
|
NM_174936.4(PCSK9):c.1574G>A (p.Arg525Lys)
|
|
|
NM_174936.4(PCSK9):c.1575G>A (p.Arg525=)
|
rs2100330661
|
|
NM_174936.4(PCSK9):c.1582C>T (p.Leu528=)
|
|
|
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)
|
rs11583680
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
NM_174936.4(PCSK9):c.1590C>A (p.Pro530=)
|
|
|
NM_174936.4(PCSK9):c.1591C>T (p.Gln531Ter)
|
rs1644743243
|
|
NM_174936.4(PCSK9):c.1593G>A (p.Gln531=)
|
|
|
NM_174936.4(PCSK9):c.1599C>T (p.Asn533=)
|
|
|
NM_174936.4(PCSK9):c.1601G>T (p.Cys534Phe)
|
rs920130560
|
|
NM_174936.4(PCSK9):c.160G>A (p.Glu54Lys)
|
|
|
NM_174936.4(PCSK9):c.1623A>G (p.Pro541=)
|
rs1644743439
|
|
NM_174936.4(PCSK9):c.1629G>T (p.Glu543Asp)
|
rs2100330877
|
|
NM_174936.4(PCSK9):c.1638G>A (p.Met546Ile)
|
rs1461201950
|
|
NM_174936.4(PCSK9):c.1642A>T (p.Thr548Ser)
|
|
|
NM_174936.4(PCSK9):c.1646G>T (p.Arg549Leu)
|
|
|
NM_174936.4(PCSK9):c.164C>A (p.Ala55Glu)
|
|
|
NM_174936.4(PCSK9):c.164C>T (p.Ala55Val)
|
rs1644586582
|
|
NM_174936.4(PCSK9):c.1653C>G (p.His551Gln)
|
|
|
NM_174936.4(PCSK9):c.1656C>T (p.Cys552=)
|
rs1177467649
|
|
NM_174936.4(PCSK9):c.1657C>G (p.His553Asp)
|
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
NM_174936.4(PCSK9):c.1660C>A (p.Gln554Lys)
|
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
NM_174936.4(PCSK9):c.1660C>T (p.Gln554Ter)
|
|
|
NM_174936.4(PCSK9):c.1668C>A (p.Gly556=)
|
rs1570308726
|
|
NM_174936.4(PCSK9):c.1668C>T (p.Gly556=)
|
rs1570308726
|
|
NM_174936.4(PCSK9):c.1675_1677dup (p.Leu559_Thr560insLeu)
|
|
|
NM_174936.4(PCSK9):c.1679C>T (p.Thr560Ile)
|
|
|
NM_174936.4(PCSK9):c.1681+18C>T
|
|
|
NM_174936.4(PCSK9):c.1681+19C>T
|
|
|
NM_174936.4(PCSK9):c.1681+7G>A
|
rs1200069101
|
|
NM_174936.4(PCSK9):c.1682-16C>T
|
|
|
NM_174936.4(PCSK9):c.1682-3dup
|
rs749072203
|
|
NM_174936.4(PCSK9):c.1682-4C>T
|
|
|
NM_174936.4(PCSK9):c.1682-5C>T
|
|
|
NM_174936.4(PCSK9):c.1682-6C>T
|
|
|
NM_174936.4(PCSK9):c.1683C>G (p.Gly561=)
|
rs2100336885
|
|
NM_174936.4(PCSK9):c.168C>A (p.Pro56=)
|
|
|
NM_174936.4(PCSK9):c.168C>T (p.Pro56=)
|
rs763029049
|
|
NM_174936.4(PCSK9):c.1695C>G (p.His565Gln)
|
|
|
NM_174936.4(PCSK9):c.1699G>A (p.Glu567Lys)
|
|
|
NM_174936.4(PCSK9):c.1701G>A (p.Glu567=)
|
rs1553138070
|
|
NM_174936.4(PCSK9):c.1716C>T (p.Gly572=)
|
|
|
NM_174936.4(PCSK9):c.1722C>T (p.His574=)
|
|
|
NM_174936.4(PCSK9):c.1726C>T (p.Pro576Ser)
|
rs1361987459
|
|
NM_174936.4(PCSK9):c.1731T>C (p.Pro577=)
|
|
|
NM_174936.4(PCSK9):c.1735C>A (p.Leu579Met)
|
rs751217094
|
|
NM_174936.4(PCSK9):c.1739G>A (p.Arg580Lys)
|
rs776682841
|
|
NM_174936.4(PCSK9):c.1746A>G (p.Arg582=)
|
rs1644757971
|
|
NM_174936.4(PCSK9):c.174C>G (p.His58Gln)
|
|
|
NM_174936.4(PCSK9):c.175G>A (p.Gly59Arg)
|
rs1060500657
|
|
NM_174936.4(PCSK9):c.1760A>G (p.Gln587Arg)
|
|
|
NM_174936.4(PCSK9):c.1764C>A (p.Cys588Ter)
|
|
|
NM_174936.4(PCSK9):c.1768G>A (p.Gly590Ser)
|
rs1383528401
|
|
NM_174936.4(PCSK9):c.176G>C (p.Gly59Ala)
|
|
|
NM_174936.4(PCSK9):c.1774A>C (p.Arg592=)
|
|
|
NM_174936.4(PCSK9):c.1778_1781del (p.Glu593fs)
|
|
|
NM_174936.4(PCSK9):c.1779G>A (p.Glu593=)
|
rs1453831826
|
|
NM_174936.4(PCSK9):c.1781C>A (p.Ala594Asp)
|
|
|
NM_174936.4(PCSK9):c.1781C>T (p.Ala594Val)
|
rs578162610
|
|
NM_174936.4(PCSK9):c.1782C>T (p.Ala594=)
|
|
|
NM_174936.4(PCSK9):c.178A>G (p.Thr60Ala)
|
|
|
NM_174936.4(PCSK9):c.1792G>T (p.Ala598Ser)
|
rs367606156
|
|
NM_174936.4(PCSK9):c.1793C>A (p.Ala598Asp)
|
|
|
NM_174936.4(PCSK9):c.1797C>T (p.Ser599=)
|
rs1349990848
|
|
NM_174936.4(PCSK9):c.17C>T (p.Ser6Phe)
|
rs1644584130
|
|
NM_174936.4(PCSK9):c.1801T>C (p.Cys601Arg)
|
rs1644758668
|
|
NM_174936.4(PCSK9):c.1809C>G (p.Ala603=)
|
|
|
NM_174936.4(PCSK9):c.1809C>T (p.Ala603=)
|
rs766879196
|
|
NM_174936.4(PCSK9):c.180C>T (p.Thr60=)
|
|
|
NM_174936.4(PCSK9):c.1810C>T (p.Pro604Ser)
|
|
|
NM_174936.4(PCSK9):c.1824C>T (p.Cys608=)
|
|
|
NM_174936.4(PCSK9):c.1825A>C (p.Lys609Gln)
|
|
|
NM_174936.4(PCSK9):c.1835A>G (p.Glu612Gly)
|
|
|
NM_174936.4(PCSK9):c.1836G>A (p.Glu612=)
|
|
|
NM_174936.4(PCSK9):c.1836G>T (p.Glu612Asp)
|
|
|
NM_174936.4(PCSK9):c.1837C>A (p.His613Asn)
|
rs1644758908
|
|
NM_174936.4(PCSK9):c.1838A>G (p.His613Arg)
|
|
|
NM_174936.4(PCSK9):c.183A>C (p.Thr61=)
|
|
|
NM_174936.4(PCSK9):c.1847C>A (p.Pro616Gln)
|
rs755750316
|
|
NM_174936.4(PCSK9):c.1847C>T (p.Pro616Leu)
|
rs755750316
|
|
NM_174936.4(PCSK9):c.1848G>C (p.Pro616=)
|
|
|
NM_174936.4(PCSK9):c.1848G>T (p.Pro616=)
|
|
|
NM_174936.4(PCSK9):c.1849G>A (p.Ala617Thr)
|
|
|
NM_174936.4(PCSK9):c.1853C>G (p.Pro618Arg)
|
rs1324548567
|
|
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
|
|
|
NM_174936.4(PCSK9):c.1858G>A (p.Glu620Lys)
|
rs1060500656
|
|
NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp)
|
rs886039839
|
|
NM_174936.4(PCSK9):c.1860G>A (p.Glu620=)
|
rs1570310183
|
|
NM_174936.4(PCSK9):c.1862A>C (p.Gln621Pro)
|
|
|
NM_174936.4(PCSK9):c.1863+11C>T
|
|
|
NM_174936.4(PCSK9):c.1863+13G>A
|
|
|
NM_174936.4(PCSK9):c.1863+13G>T
|
|
|
NM_174936.4(PCSK9):c.1863+19C>T
|
|
|
NM_174936.4(PCSK9):c.1863+20C>G
|
rs760064829
|
|
NM_174936.4(PCSK9):c.1863G>A (p.Gln621=)
|
|
|
NM_174936.4(PCSK9):c.1864-12G>A
|
|
|
NM_174936.4(PCSK9):c.1864-13del
|
|
|
NM_174936.4(PCSK9):c.1864-14T>G
|
|
|
NM_174936.4(PCSK9):c.1864-16C>T
|
|
|
NM_174936.4(PCSK9):c.1864-5G>C
|
rs1644776869
|
|
NM_174936.4(PCSK9):c.1864-5G>T
|
rs1644776869
|
|
NM_174936.4(PCSK9):c.1864G>A (p.Val622Met)
|
|
|
NM_174936.4(PCSK9):c.1868C>G (p.Thr623Ser)
|
|
|
NM_174936.4(PCSK9):c.1868C>T (p.Thr623Ile)
|
rs192854667
|
|
NM_174936.4(PCSK9):c.1875C>A (p.Ala625=)
|
rs2100343161
|
|
NM_174936.4(PCSK9):c.1877G>A (p.Cys626Tyr)
|
|
|
NM_174936.4(PCSK9):c.1877G>C (p.Cys626Ser)
|
|
|
NM_174936.4(PCSK9):c.1879G>A (p.Glu627Lys)
|
|
|
NM_174936.4(PCSK9):c.187A>G (p.Thr63Ala)
|
|
|
NM_174936.4(PCSK9):c.1887C>T (p.Gly629=)
|
|
|
NM_174936.4(PCSK9):c.188C>A (p.Thr63Asn)
|
|
|
NM_174936.4(PCSK9):c.188C>T (p.Thr63Ile)
|
rs867904088
|
|
NM_174936.4(PCSK9):c.1890G>C (p.Trp630Cys)
|
|
|
NM_174936.4(PCSK9):c.1891A>G (p.Thr631Ala)
|
rs1644777177
|
|
NM_174936.4(PCSK9):c.1893C>A (p.Thr631=)
|
|
|
NM_174936.4(PCSK9):c.1897A>G (p.Thr633Ala)
|
rs1002152564
|
|
NM_174936.4(PCSK9):c.189del (p.Phe64fs)
|
|
|
NM_174936.4(PCSK9):c.1901_1904dup (p.Cys635fs)
|
rs1644777247
|
|
NM_174936.4(PCSK9):c.1902C>G (p.Gly634=)
|
|
|
NM_174936.4(PCSK9):c.1906A>C (p.Ser636Arg)
|
rs2100343401
|
|
NM_174936.4(PCSK9):c.1909G>T (p.Ala637Ser)
|
rs1644777349
|
|
NM_174936.4(PCSK9):c.1912C>T (p.Leu638Phe)
|
|
|
NM_174936.4(PCSK9):c.1914C>T (p.Leu638=)
|
rs948729146
|
|
NM_174936.4(PCSK9):c.1916C>G (p.Pro639Arg)
|
|
|
NM_174936.4(PCSK9):c.1918G>C (p.Gly640Arg)
|
|
|
NM_174936.4(PCSK9):c.1920G>T (p.Gly640=)
|
rs1060500658
|
|
NM_174936.4(PCSK9):c.1922C>T (p.Thr641Ile)
|
rs763903895
|
|
NM_174936.4(PCSK9):c.1925C>T (p.Ser642Phe)
|
|
|
NM_174936.4(PCSK9):c.192C>T (p.Phe64=)
|
|
|
NM_174936.4(PCSK9):c.1930G>T (p.Val644Phe)
|
|
|
NM_174936.4(PCSK9):c.1937G>A (p.Gly646Glu)
|
|
|
NM_174936.4(PCSK9):c.1945_1954del (p.Ala649fs)
|
rs1644777752
|
|
NM_174936.4(PCSK9):c.1947C>A (p.Ala649=)
|
|
|
NM_174936.4(PCSK9):c.1948G>T (p.Val650Leu)
|
|
|
NM_174936.4(PCSK9):c.1952A>G (p.Asp651Gly)
|
rs1644777850
|
|
NM_174936.4(PCSK9):c.1958C>A (p.Thr653Lys)
|
|
|
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
|
|
|
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=)
|
rs139894975
|
|
NM_174936.4(PCSK9):c.1959G>C (p.Thr653=)
|
rs139894975
|
|
NM_174936.4(PCSK9):c.195C>T (p.His65=)
|
|
|
NM_174936.4(PCSK9):c.1961_1964dup (p.Val656fs)
|
|
|
NM_174936.4(PCSK9):c.1964T>G (p.Val655Gly)
|
|
|
NM_174936.4(PCSK9):c.1966G>A (p.Val656Ile)
|
|
|
NM_174936.4(PCSK9):c.1967T>A (p.Val656Asp)
|
|
|
NM_174936.4(PCSK9):c.196C>A (p.Arg66Ser)
|
|
|
NM_174936.4(PCSK9):c.196C>T (p.Arg66Cys)
|
rs1437993187
|
|
NM_174936.4(PCSK9):c.1975C>G (p.Arg659Gly)
|
|
|
NM_174936.4(PCSK9):c.1976G>A (p.Arg659Gln)
|
|
|
NM_174936.4(PCSK9):c.1978G>A (p.Asp660Asn)
|
rs72646530
|
|
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
|
|
|
NM_174936.4(PCSK9):c.197_198delinsAA (p.Arg66Gln)
|
rs1644587150
|
|
NM_174936.4(PCSK9):c.1981G>C (p.Val661Leu)
|
|
|
NM_174936.4(PCSK9):c.1987A>G (p.Thr663Ala)
|
rs1325251210
|
|
NM_174936.4(PCSK9):c.1989_1990delinsCT (p.Thr664Ser)
|
rs2100344108
|
|
NM_174936.4(PCSK9):c.1989_2000del (p.Thr664_Thr667del)
|
|
|
NM_174936.4(PCSK9):c.1992A>T (p.Thr664=)
|
rs1570311492
|
|
NM_174936.4(PCSK9):c.1995_2001dup (p.Ser668fs)
|
|
|
NM_174936.4(PCSK9):c.199T>C (p.Cys67Arg)
|
rs376619733
|
|
NM_174936.4(PCSK9):c.199T>G (p.Cys67Gly)
|
|
|
NM_174936.4(PCSK9):c.2004C>T (p.Ser668=)
|
|
|
NM_174936.4(PCSK9):c.2005G>A (p.Glu669Lys)
|
rs886046435
|
|
NM_174936.4(PCSK9):c.2005G>C (p.Glu669Gln)
|
rs886046435
|
|
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
|
|
|
NM_174936.4(PCSK9):c.2013C>G (p.Ala671=)
|
rs761714505
|
|
NM_174936.4(PCSK9):c.2015T>A (p.Val672Glu)
|
|
|
NM_174936.4(PCSK9):c.2016G>C (p.Val672=)
|
|
|
NM_174936.4(PCSK9):c.2017A>G (p.Thr673Ala)
|
|
|
NM_174936.4(PCSK9):c.201C>T (p.Cys67=)
|
rs1644587227
|
|
NM_174936.4(PCSK9):c.2024T>C (p.Val675Ala)
|
rs1557509864
|
|
NM_174936.4(PCSK9):c.2026G>A (p.Ala676Thr)
|
rs1644778814
|
|
NM_174936.4(PCSK9):c.2027C>G (p.Ala676Gly)
|
|
|
NM_174936.4(PCSK9):c.202del (p.Ala68fs)
|
|
|
NM_174936.4(PCSK9):c.2031C>T (p.Ile677=)
|
|
|
NM_174936.4(PCSK9):c.2033G>T (p.Cys678Phe)
|
|
|
NM_174936.4(PCSK9):c.2037C>T (p.Cys679=)
|
|
|
NM_174936.4(PCSK9):c.2039G>A (p.Arg680Gln)
|
|
|
NM_174936.4(PCSK9):c.203C>T (p.Ala68Val)
|
rs2100253083
|
|
NM_174936.4(PCSK9):c.2047C>A (p.His683Asn)
|
rs550247306
|
|
NM_174936.4(PCSK9):c.2048dup (p.His683fs)
|
|
|
NM_174936.4(PCSK9):c.2051T>A (p.Leu684Gln)
|
rs1557509907
|
|
NM_174936.4(PCSK9):c.2054C>T (p.Ala685Val)
|
|
|
NM_174936.4(PCSK9):c.2055G>A (p.Ala685=)
|
rs1490853919
|
|
NM_174936.4(PCSK9):c.2058G>A (p.Gln686=)
|
|
|
NM_174936.4(PCSK9):c.2059G>C (p.Ala687Pro)
|
|
|
NM_174936.4(PCSK9):c.2066A>T (p.Gln689Leu)
|
rs2100344811
|
|
NM_174936.4(PCSK9):c.2067G>C (p.Gln689His)
|
rs779635493
|
|
NM_174936.4(PCSK9):c.2068G>A (p.Glu690Lys)
|
rs1557509919
|
|
NM_174936.4(PCSK9):c.2069A>T (p.Glu690Val)
|
|
|
NM_174936.4(PCSK9):c.207+12G>A
|
|
|
NM_174936.4(PCSK9):c.207+14_207+15delinsAG
|
|
|
NM_174936.4(PCSK9):c.207+15A>T
|
|
|
NM_174936.4(PCSK9):c.207+6G>A
|
rs1306315743
|
|
NM_174936.4(PCSK9):c.207+9G>A
|
|
|
NM_174936.4(PCSK9):c.207G>A (p.Lys69=)
|
rs1644587403
|
|
NM_174936.4(PCSK9):c.208-10A>G
|
rs761104090
|
|
NM_174936.4(PCSK9):c.208-10A>T
|
|
|
NM_174936.4(PCSK9):c.208-13T>G
|
rs2100266261
|
|
NM_174936.4(PCSK9):c.208-14T>G
|
rs750836360
|
|
NM_174936.4(PCSK9):c.208-1G>A
|
|
|
NM_174936.4(PCSK9):c.208-6G>A
|
rs2100266306
|
|
NM_174936.4(PCSK9):c.208-8G>A
|
|
|
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)
|
rs569379713
|
|
NM_174936.4(PCSK9):c.219G>A (p.Arg73=)
|
|
|
NM_174936.4(PCSK9):c.21G>A (p.Arg7=)
|
rs2100250570
|
|
NM_174936.4(PCSK9):c.229A>G (p.Thr77Ala)
|
|
|
NM_174936.4(PCSK9):c.235G>A (p.Val79Met)
|
|
|
NM_174936.4(PCSK9):c.237G>A (p.Val79=)
|
|
|
NM_174936.4(PCSK9):c.238del (p.Val80fs)
|
rs1644614862
|
|
NM_174936.4(PCSK9):c.23G>A (p.Arg8Gln)
|
|
|
NM_174936.4(PCSK9):c.240G>A (p.Val80=)
|
rs2100266566
|
|
NM_174936.4(PCSK9):c.247A>G (p.Lys83Glu)
|
rs1557499351
|
|
NM_174936.4(PCSK9):c.248A>C (p.Lys83Thr)
|
rs1553135930
|
|
NM_174936.4(PCSK9):c.249G>T (p.Lys83Asn)
|
|
|
NM_174936.4(PCSK9):c.250G>A (p.Glu84Lys)
|
rs1553135931
|
|
NM_174936.4(PCSK9):c.252G>A (p.Glu84=)
|
rs768895535
|
|
NM_174936.4(PCSK9):c.261C>A (p.His87Gln)
|
rs1474074355
|
|
NM_174936.4(PCSK9):c.261C>T (p.His87=)
|
rs1474074355
|
|
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)
|
rs771978846
|
|
NM_174936.4(PCSK9):c.268C>T (p.Gln90Ter)
|
rs2100266778
|
|
NM_174936.4(PCSK9):c.271T>G (p.Ser91Ala)
|
|
|
NM_174936.4(PCSK9):c.274G>C (p.Glu92Gln)
|
|
|
NM_174936.4(PCSK9):c.27C>G (p.Ser9=)
|
rs562480265
|
|
NM_174936.4(PCSK9):c.281C>T (p.Thr94Ile)
|
rs1644615283
|
|
NM_174936.4(PCSK9):c.285C>T (p.Ala95=)
|
|
|
NM_174936.4(PCSK9):c.286C>A (p.Arg96Ser)
|
|
|
NM_174936.4(PCSK9):c.287G>A (p.Arg96His)
|
rs766999045
|
|
NM_174936.4(PCSK9):c.287GCC[1] (p.Arg97del)
|
rs587776545
|
|
NM_174936.4(PCSK9):c.292C>T (p.Leu98=)
|
|
|
NM_174936.4(PCSK9):c.295C>T (p.Gln99Ter)
|
|
|
NM_174936.4(PCSK9):c.299C>G (p.Ala100Gly)
|
rs1484569818
|
|
NM_174936.4(PCSK9):c.29G>C (p.Trp10Ser)
|
|
|
NM_174936.4(PCSK9):c.303G>A (p.Gln101=)
|
|
|
NM_174936.4(PCSK9):c.309C>T (p.Ala103=)
|
|
|
NM_174936.4(PCSK9):c.311G>A (p.Arg104His)
|
rs72658890
|
|
NM_174936.4(PCSK9):c.315G>A (p.Arg105=)
|
|
|
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg)
|
rs2100267180
|
|
NM_174936.4(PCSK9):c.322C>T (p.Leu108Phe)
|
rs1057519692
|
|
NM_174936.4(PCSK9):c.323T>C (p.Leu108Pro)
|
rs1057519691
|
|
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
|
rs1057519691
|
|
NM_174936.4(PCSK9):c.327C>G (p.Thr109=)
|
rs759986372
|
|
NM_174936.4(PCSK9):c.335T>C (p.Leu112Pro)
|
|
|
NM_174936.4(PCSK9):c.335T>G (p.Leu112Arg)
|
rs1021372164
|
|
NM_174936.4(PCSK9):c.338A>G (p.His113Arg)
|
|
|
NM_174936.4(PCSK9):c.348T>C (p.His116=)
|
rs1021107715
|
|
NM_174936.4(PCSK9):c.351C>T (p.Gly117=)
|
rs1644616384
|
|
NM_174936.4(PCSK9):c.354T>A (p.Leu118=)
|
|
|
NM_174936.4(PCSK9):c.356T>C (p.Leu119Pro)
|
|
|
NM_174936.4(PCSK9):c.367C>T (p.Leu123=)
|
|
|
NM_174936.4(PCSK9):c.369G>A (p.Leu123=)
|
|
|
NM_174936.4(PCSK9):c.36G>A (p.Pro12=)
|
rs1202453511
|
|
NM_174936.4(PCSK9):c.370G>A (p.Val124Met)
|
|
|
NM_174936.4(PCSK9):c.372G>A (p.Val124=)
|
rs886039841
|
|
NM_174936.4(PCSK9):c.375G>C (p.Lys125Asn)
|
rs767164134
|
|
NM_174936.4(PCSK9):c.380G>A (p.Ser127Asn)
|
|
|
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg)
|
rs28942111
|
|
NM_174936.4(PCSK9):c.381T>G (p.Ser127Arg)
|
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|
NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)
|
rs1553135971
|
|
NM_174936.4(PCSK9):c.387C>T (p.Asp129=)
|
rs1644616734
|
|
NM_174936.4(PCSK9):c.393G>A (p.Leu131=)
|
|
|
NM_174936.4(PCSK9):c.396G>A (p.Glu132=)
|
|
|
NM_174936.4(PCSK9):c.399+10C>G
|
|
|
NM_174936.4(PCSK9):c.399+10C>T
|
rs112710386
|
|
NM_174936.4(PCSK9):c.399+11C>A
|
|
|
NM_174936.4(PCSK9):c.399+11del
|
|
|
NM_174936.4(PCSK9):c.399+18G>T
|
|
|
NM_174936.4(PCSK9):c.399+1G>C
|
rs1461760908
|
|
NM_174936.4(PCSK9):c.399+6C>A
|
|
|
NM_174936.4(PCSK9):c.400-10G>A
|
|
|
NM_174936.4(PCSK9):c.400-10G>C
|
|
|
NM_174936.4(PCSK9):c.400-11G>A
|
rs886039844
|
|
NM_174936.4(PCSK9):c.400-13C>T
|
|
|
NM_174936.4(PCSK9):c.400-15C>T
|
rs1644635525
|
|
NM_174936.4(PCSK9):c.400-22C>A
|
rs886039843
|
|
NM_174936.4(PCSK9):c.400-2A>C
|
|
|
NM_174936.4(PCSK9):c.400-5T>C
|
rs1284307557
|
|
NM_174936.4(PCSK9):c.400-94G>A
|
rs886039842
|
|
NM_174936.4(PCSK9):c.405G>A (p.Leu135=)
|
rs2100275802
|
|
NM_174936.4(PCSK9):c.40C>T (p.Pro14Ser)
|
rs1644584325
|
|
NM_174936.4(PCSK9):c.411G>A (p.Leu137=)
|
|
|
NM_174936.4(PCSK9):c.412C>T (p.Pro138Ser)
|
rs780564433
|
|
NM_174936.4(PCSK9):c.415C>T (p.His139Tyr)
|
|
|
NM_174936.4(PCSK9):c.422A>T (p.Asp141Val)
|
rs1557500688
|
|
NM_174936.4(PCSK9):c.424T>C (p.Tyr142His)
|
|
|
NM_174936.4(PCSK9):c.424T>G (p.Tyr142Asp)
|
rs1644636004
|
|
NM_174936.4(PCSK9):c.427A>G (p.Ile143Val)
|
|
|
NM_174936.4(PCSK9):c.428T>C (p.Ile143Thr)
|
|
|
NM_174936.4(PCSK9):c.429C>G (p.Ile143Met)
|
|
|
NM_174936.4(PCSK9):c.42A>G (p.Pro14=)
|
|
|
NM_174936.4(PCSK9):c.42_43insATGCTG (p.Pro14_Leu15insMetLeu)
|
|
|
NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)
|
|
|
NM_174936.4(PCSK9):c.42_50del (p.Leu21_Leu23del)
|
rs1644584450
|
|
NM_174936.4(PCSK9):c.430G>A (p.Glu144Lys)
|
rs776150122
|
|
NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn)
|
|
|
NM_174936.4(PCSK9):c.437A>G (p.Asp146Gly)
|
|
|
NM_174936.4(PCSK9):c.440C>T (p.Ser147Phe)
|
rs2100276054
|
|
NM_174936.4(PCSK9):c.441C>T (p.Ser147=)
|
|
|
NM_174936.4(PCSK9):c.443_444del (p.Ser148fs)
|
rs978861923
|
|
NM_174936.4(PCSK9):c.449_450del (p.Phe150fs)
|
rs793888520
|
|
NM_174936.4(PCSK9):c.452C>T (p.Ala151Val)
|
|
|
NM_174936.4(PCSK9):c.453C>T (p.Ala151=)
|
rs2100276152
|
|
NM_174936.4(PCSK9):c.454C>G (p.Gln152Glu)
|
|
|
NM_174936.4(PCSK9):c.456G>A (p.Gln152=)
|
rs1305635836
|
|
NM_174936.4(PCSK9):c.456G>C (p.Gln152His)
|
|
|
NM_174936.4(PCSK9):c.45G>A (p.Leu15=)
|
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45GCT[4] (p.Leu21_Leu23del)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45GCT[5] (p.Leu22_Leu23del)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.45_46insGTG (p.Leu15_Leu16insVal)
|
rs1350443459
|
|
NM_174936.4(PCSK9):c.461T>C (p.Ile154Thr)
|
rs2100276236
|
|
NM_174936.4(PCSK9):c.462C>A (p.Ile154=)
|
|
|
NM_174936.4(PCSK9):c.465G>A (p.Pro155=)
|
rs762792417
|
|
NM_174936.4(PCSK9):c.467G>A (p.Trp156Ter)
|
rs1557500768
|
|
NM_174936.4(PCSK9):c.467_468delinsAA (p.Trp156Ter)
|
rs1644636495
|
|
NM_174936.4(PCSK9):c.468G>A (p.Trp156Ter)
|
rs1557500771
|
|
NM_174936.4(PCSK9):c.46C>T (p.Leu16=)
|
|
|
NM_174936.4(PCSK9):c.470A>G (p.Asn157Ser)
|
|
|
NM_174936.4(PCSK9):c.481A>G (p.Ile161Val)
|
rs1644636659
|
|
NM_174936.4(PCSK9):c.482T>C (p.Ile161Thr)
|
rs748403083
|
|
NM_174936.4(PCSK9):c.486C>A (p.Thr162=)
|
|
|
NM_174936.4(PCSK9):c.486C>G (p.Thr162=)
|
rs886038747
|
|
NM_174936.4(PCSK9):c.487C>T (p.Pro163Ser)
|
|
|
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln)
|
rs372165281
|
|
NM_174936.4(PCSK9):c.494G>T (p.Arg165Leu)
|
rs372165281
|
|
NM_174936.4(PCSK9):c.4G>A (p.Gly2Ser)
|
|
|
NM_174936.4(PCSK9):c.501G>A (p.Arg167=)
|
rs748481228
|
|
NM_174936.4(PCSK9):c.501G>C (p.Arg167=)
|
|
|
NM_174936.4(PCSK9):c.502G>T (p.Ala168Ser)
|
|
|
NM_174936.4(PCSK9):c.503C>A (p.Ala168Glu)
|
rs770592607
|
|
NM_174936.4(PCSK9):c.503C>G (p.Ala168Gly)
|
rs770592607
|
|
NM_174936.4(PCSK9):c.513C>A (p.Tyr171Ter)
|
rs1644637183
|
|
NM_174936.4(PCSK9):c.516G>A (p.Gln172=)
|
|
|
NM_174936.4(PCSK9):c.518C>T (p.Pro173Leu)
|
|
|
NM_174936.4(PCSK9):c.521C>T (p.Pro174Leu)
|
rs2100276777
|
|
NM_174936.4(PCSK9):c.522C>A (p.Pro174=)
|
|
|
NM_174936.4(PCSK9):c.522C>G (p.Pro174=)
|
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|
NM_174936.4(PCSK9):c.523+16G>A
|
|
|
NM_174936.4(PCSK9):c.523+1G>A
|
|
|
NM_174936.4(PCSK9):c.523+6A>T
|
|
|
NM_174936.4(PCSK9):c.523+9C>T
|
|
|
NM_174936.4(PCSK9):c.523G>T (p.Asp175Tyr)
|
|
|
NM_174936.4(PCSK9):c.524-13T>A
|
|
|
NM_174936.4(PCSK9):c.524-18A>G
|
|
|
NM_174936.4(PCSK9):c.524-2A>T
|
rs2100296311
|
|
NM_174936.4(PCSK9):c.524-2del
|
rs1644679774
|
|
NM_174936.4(PCSK9):c.524-3A>C
|
rs765777205
|
|
NM_174936.4(PCSK9):c.524-5G>A
|
|
|
NM_174936.4(PCSK9):c.524-6G>A
|
|
|
NM_174936.4(PCSK9):c.524-9del
|
rs751658486
|
|
NM_174936.4(PCSK9):c.524A>T (p.Asp175Val)
|
|
|
NM_174936.4(PCSK9):c.53T>G (p.Leu18Arg)
|
|
|
NM_174936.4(PCSK9):c.546G>A (p.Val182=)
|
|
|
NM_174936.4(PCSK9):c.546G>T (p.Val182=)
|
|
|
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
|
|
|
NM_174936.4(PCSK9):c.547dup (p.Tyr183fs)
|
|
|
NM_174936.4(PCSK9):c.552C>T (p.Leu184=)
|
rs1644680335
|
|
NM_174936.4(PCSK9):c.553C>G (p.Leu185Val)
|
|
|
NM_174936.4(PCSK9):c.554T>C (p.Leu185Pro)
|
|
|
NM_174936.4(PCSK9):c.554_558del (p.Leu185fs)
|
rs1644680378
|
|
NM_174936.4(PCSK9):c.555A>G (p.Leu185=)
|
|
|
NM_174936.4(PCSK9):c.556G>C (p.Asp186His)
|
|
|
NM_174936.4(PCSK9):c.557A>G (p.Asp186Gly)
|
|
|
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs)
|
rs755197912
|
|
NM_174936.4(PCSK9):c.568C>T (p.Gln190Ter)
|
rs1557503455
|
|
NM_174936.4(PCSK9):c.572G>A (p.Ser191Asn)
|
|
|
NM_174936.4(PCSK9):c.579C>A (p.His193Gln)
|
|
|
NM_174936.4(PCSK9):c.57G>C (p.Leu19=)
|
|
|
NM_174936.4(PCSK9):c.580C>A (p.Arg194=)
|
rs200027662
|
|
NM_174936.4(PCSK9):c.580C>G (p.Arg194Gly)
|
|
|
NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp)
|
rs200027662
|
|
NM_174936.4(PCSK9):c.581G>C (p.Arg194Pro)
|
|
|
NM_174936.4(PCSK9):c.588C>A (p.Ile196=)
|
|
|
NM_174936.4(PCSK9):c.588C>G (p.Ile196Met)
|
|
|
NM_174936.4(PCSK9):c.588C>T (p.Ile196=)
|
rs762910129
|
|
NM_174936.4(PCSK9):c.591G>A (p.Glu197=)
|
rs1436739095
|
|
NM_174936.4(PCSK9):c.599T>C (p.Val200Ala)
|
|
|
NM_174936.4(PCSK9):c.5G>A (p.Gly2Asp)
|
|
|
NM_174936.4(PCSK9):c.602T>C (p.Met201Thr)
|
rs1254535640
|
|
NM_174936.4(PCSK9):c.606C>T (p.Val202=)
|
rs760346826
|
|
NM_174936.4(PCSK9):c.618G>A (p.Glu206=)
|
|
|
NM_174936.4(PCSK9):c.61_69dup (p.Leu23_Gly24insLeuLeuLeu)
|
|
|
NM_174936.4(PCSK9):c.625C>T (p.Pro209Ser)
|
rs1373540306
|
|
NM_174936.4(PCSK9):c.634_644del (p.Asp212fs)
|
rs1644681304
|
|
NM_174936.4(PCSK9):c.641C>A (p.Thr214Asn)
|
|
|
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)
|
rs794728683
|
|
NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu)
|
rs28942112
|
|
NM_174936.4(PCSK9):c.651_652del (p.His217fs)
|
rs1644681507
|
|
NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly)
|
rs1278078294
|
|
NM_174936.4(PCSK9):c.653G>A (p.Arg218Lys)
|
|
|
NM_174936.4(PCSK9):c.653G>C (p.Arg218Thr)
|
rs1644681544
|
|
NM_174936.4(PCSK9):c.653G>T (p.Arg218Ile)
|
rs1644681544
|
|
NM_174936.4(PCSK9):c.654A>G (p.Arg218=)
|
rs970575319
|
|
NM_174936.4(PCSK9):c.654A>T (p.Arg218Ser)
|
rs970575319
|
|
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu)
|
rs778617372
|
|
NM_174936.4(PCSK9):c.655C>T (p.Gln219Ter)
|
|
|
NM_174936.4(PCSK9):c.656A>G (p.Gln219Arg)
|
|
|
NM_174936.4(PCSK9):c.657+107C>T
|
rs886039846
|
|
NM_174936.4(PCSK9):c.657+114del
|
rs397735050
|
|
NM_174936.4(PCSK9):c.657+12C>T
|
|
|
NM_174936.4(PCSK9):c.657+13G>A
|
|
|
NM_174936.4(PCSK9):c.657+18A>G
|
|
|
NM_174936.4(PCSK9):c.657+20G>A
|
|
|
NM_174936.4(PCSK9):c.657+82G>A
|
rs625619
|
|
NM_174936.4(PCSK9):c.657+91G>C
|
rs886039845
|
|
NM_174936.4(PCSK9):c.658-10C>G
|
rs375695759
|
|
NM_174936.4(PCSK9):c.658-11T>A
|
|
|
NM_174936.4(PCSK9):c.658-2A>C
|
rs371336612
|
|
NM_174936.4(PCSK9):c.658-2A>G
|
|
|
NM_174936.4(PCSK9):c.658-36G>C
|
rs11800265
|
|
NM_174936.4(PCSK9):c.658-6G>T
|
rs745633457
|
|
NM_174936.4(PCSK9):c.658-8T>C
|
rs1570301527
|
|
NM_174936.4(PCSK9):c.658-9_658-7delinsATT
|
rs1644683877
|
|
NM_174936.4(PCSK9):c.65T>C (p.Leu22Pro)
|
rs1644584917
|
|
NM_174936.4(PCSK9):c.65_66insGCC (p.Leu22_Leu23insPro)
|
|
|
NM_174936.4(PCSK9):c.65_66insGCTCCT (p.Leu23_Gly24insLeuLeu)
|
|
|
NM_174936.4(PCSK9):c.666G>A (p.Lys222=)
|
|
|
NM_174936.4(PCSK9):c.667T>C (p.Cys223Arg)
|
rs1644684082
|
|
NM_174936.4(PCSK9):c.670G>A (p.Asp224Asn)
|
|
|
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
|
|
|
NM_174936.4(PCSK9):c.674G>C (p.Ser225Thr)
|
|
|
NM_174936.4(PCSK9):c.67_92del (p.Leu23fs)
|
|
|
NM_174936.4(PCSK9):c.683C>G (p.Thr228Ser)
|
|
|
NM_174936.4(PCSK9):c.687C>T (p.His229=)
|
|
|
NM_174936.4(PCSK9):c.68T>A (p.Leu23Gln)
|
|
|
NM_174936.4(PCSK9):c.693A>G (p.Ala231=)
|
rs1644684348
|
|
NM_174936.4(PCSK9):c.696G>A (p.Gly232=)
|
|
|
NM_174936.4(PCSK9):c.697G>A (p.Val233Met)
|
rs150169598
|
|
NM_174936.4(PCSK9):c.699G>T (p.Val233=)
|
rs72646507
|
|
NM_174936.4(PCSK9):c.6C>T (p.Gly2=)
|
rs1644584021
|
|
NM_174936.4(PCSK9):c.70G>T (p.Gly24Cys)
|
|
|
NM_174936.4(PCSK9):c.713A>T (p.Asp238Val)
|
rs1557503867
|
|
NM_174936.4(PCSK9):c.714T>C (p.Asp238=)
|
rs1300943486
|
|
NM_174936.4(PCSK9):c.720C>A (p.Gly240=)
|
|
|
NM_174936.4(PCSK9):c.725C>T (p.Ala242Val)
|
|
|
NM_174936.4(PCSK9):c.731G>A (p.Gly244Asp)
|
|
|
NM_174936.4(PCSK9):c.733G>A (p.Ala245Thr)
|
rs1210030445
|
|
NM_174936.4(PCSK9):c.740_741insTGCGCAGCC (p.Met247delinsIleAlaGlnPro)
|
|
|
NM_174936.4(PCSK9):c.747C>G (p.Ser249Arg)
|
|
|
NM_174936.4(PCSK9):c.754G>T (p.Val252Leu)
|
|
|
NM_174936.4(PCSK9):c.758T>A (p.Leu253His)
|
|
|
NM_174936.4(PCSK9):c.75C>T (p.Pro25=)
|
|
|
NM_174936.4(PCSK9):c.75del (p.Ala26fs)
|
|
|
NM_174936.4(PCSK9):c.760A>T (p.Asn254Tyr)
|
rs1644685146
|
|
NM_174936.4(PCSK9):c.762C>T (p.Asn254=)
|
rs915006256
|
|
NM_174936.4(PCSK9):c.765C>T (p.Cys255=)
|
|
|
NM_174936.4(PCSK9):c.772A>T (p.Lys258Ter)
|
rs771479424
|
|
NM_174936.4(PCSK9):c.776G>A (p.Gly259Asp)
|
|
|
NM_174936.4(PCSK9):c.778_799+12del
|
|
|
NM_174936.4(PCSK9):c.780G>A (p.Thr260=)
|
rs1397743766
|
|
NM_174936.4(PCSK9):c.782T>C (p.Val261Ala)
|
|
|
NM_174936.4(PCSK9):c.789C>T (p.Gly263=)
|
|
|
NM_174936.4(PCSK9):c.78G>A (p.Ala26=)
|
|
|
NM_174936.4(PCSK9):c.791C>A (p.Thr264Asn)
|
rs201789841
|
|
NM_174936.4(PCSK9):c.792C>T (p.Thr264=)
|
rs750429847
|
|
NM_174936.4(PCSK9):c.793C>T (p.Leu265Phe)
|
|
|
NM_174936.4(PCSK9):c.799+11G>A
|
|
|
NM_174936.4(PCSK9):c.799+15C>T
|
|
|
NM_174936.4(PCSK9):c.799+20G>A
|
|
|
NM_174936.4(PCSK9):c.799+5G>A
|
|
|
NM_174936.4(PCSK9):c.799+5G>C
|
|
|
NM_174936.4(PCSK9):c.799+5del
|
rs2100299786
|
|
NM_174936.4(PCSK9):c.79G>A (p.Gly27Ser)
|
|
|
NM_174936.4(PCSK9):c.800-12T>C
|
rs1644710625
|
|
NM_174936.4(PCSK9):c.800-17G>A
|
|
|
NM_174936.4(PCSK9):c.800-17G>T
|
rs200551844
|
|
NM_174936.4(PCSK9):c.800-2_800delinsCC
|
|
|
NM_174936.4(PCSK9):c.800-5C>T
|
rs1644710672
|
|
NM_174936.4(PCSK9):c.800-7C>T
|
|
|
NM_174936.4(PCSK9):c.802C>T (p.Leu268=)
|
|
|
NM_174936.4(PCSK9):c.803T>G (p.Leu268Arg)
|
|
|
NM_174936.4(PCSK9):c.808T>A (p.Phe270Ile)
|
rs2100311351
|
|
NM_174936.4(PCSK9):c.80G>A (p.Gly27Asp)
|
|
|
NM_174936.4(PCSK9):c.80G>C (p.Gly27Ala)
|
rs1187613601
|
|
NM_174936.4(PCSK9):c.810T>C (p.Phe270=)
|
|
|
NM_174936.4(PCSK9):c.815G>A (p.Arg272Gln)
|
rs1486032110
|
|
NM_174936.4(PCSK9):c.819A>C (p.Lys273Asn)
|
|
|
NM_174936.4(PCSK9):c.81C>T (p.Gly27=)
|
rs1288602841
|
|
NM_174936.4(PCSK9):c.820del (p.Ser274fs)
|
|
|
NM_174936.4(PCSK9):c.821G>A (p.Ser274Asn)
|
|
|
NM_174936.4(PCSK9):c.82G>A (p.Ala28Thr)
|
|
|
NM_174936.4(PCSK9):c.833A>T (p.Gln278Leu)
|
|
|
NM_174936.4(PCSK9):c.836C>T (p.Pro279Leu)
|
rs1049662014
|
|
NM_174936.4(PCSK9):c.844C>A (p.Pro282Thr)
|
rs758526036
|
|
NM_174936.4(PCSK9):c.844C>T (p.Pro282Ser)
|
|
|
NM_174936.4(PCSK9):c.846A>C (p.Pro282=)
|
|
|
NM_174936.4(PCSK9):c.848T>C (p.Leu283Pro)
|
rs1644711279
|
|
NM_174936.4(PCSK9):c.84C>T (p.Ala28=)
|
rs1570290647
|
|
NM_174936.4(PCSK9):c.851_868dup (p.Leu289_Ala290insValValLeuLeuProLeu)
|
|
|
NM_174936.4(PCSK9):c.853G>A (p.Val285Met)
|
rs1644711325
|
|
NM_174936.4(PCSK9):c.854T>C (p.Val285Ala)
|
|
|
NM_174936.4(PCSK9):c.855G>A (p.Val285=)
|
rs2100311818
|
|
NM_174936.4(PCSK9):c.855G>C (p.Val285=)
|
|
|
NM_174936.4(PCSK9):c.85C>G (p.Arg29Gly)
|
rs866597555
|
|
NM_174936.4(PCSK9):c.85C>T (p.Arg29Cys)
|
rs866597555
|
|
NM_174936.4(PCSK9):c.85del (p.Arg29fs)
|
rs1553135406
|
|
NM_174936.4(PCSK9):c.862C>T (p.Pro288Ser)
|
|
|
NM_174936.4(PCSK9):c.863C>T (p.Pro288Leu)
|
|
|
NM_174936.4(PCSK9):c.864C>T (p.Pro288=)
|
|
|
NM_174936.4(PCSK9):c.86G>A (p.Arg29His)
|
|
|
NM_174936.4(PCSK9):c.870G>A (p.Ala290=)
|
rs868122267
|
|
NM_174936.4(PCSK9):c.871G>A (p.Gly291Ser)
|
|
|
NM_174936.4(PCSK9):c.872G>A (p.Gly291Asp)
|
|
|
NM_174936.4(PCSK9):c.873T>G (p.Gly291=)
|
rs1570304999
|
|
NM_174936.4(PCSK9):c.876G>T (p.Gly292=)
|
rs1012650815
|
|
NM_174936.4(PCSK9):c.879C>T (p.Tyr293=)
|
|
|
NM_174936.4(PCSK9):c.880A>G (p.Ser294Gly)
|
|
|
NM_174936.4(PCSK9):c.881G>A (p.Ser294Asn)
|
|
|
NM_174936.4(PCSK9):c.889C>T (p.Leu297Phe)
|
|
|
NM_174936.4(PCSK9):c.895G>A (p.Ala299Thr)
|
rs1359249683
|
|
NM_174936.4(PCSK9):c.896C>A (p.Ala299Asp)
|
rs1644711775
|
|
NM_174936.4(PCSK9):c.897C>T (p.Ala299=)
|
rs1644711792
|
|
NM_174936.4(PCSK9):c.898G>A (p.Ala300Thr)
|
|
|
NM_174936.4(PCSK9):c.89C>A (p.Ala30Glu)
|
rs958750957
|
|
NM_174936.4(PCSK9):c.89_92dup (p.Gln31fs)
|
rs1344705474
|
|
NM_174936.4(PCSK9):c.8C>A (p.Thr3Asn)
|
rs966100677
|
|
NM_174936.4(PCSK9):c.8C>T (p.Thr3Ile)
|
|
|
NM_174936.4(PCSK9):c.901T>C (p.Cys301Arg)
|
|
|
NM_174936.4(PCSK9):c.906G>C (p.Gln302His)
|
rs1644711892
|
|
NM_174936.4(PCSK9):c.907C>T (p.Arg303Cys)
|
|
|
NM_174936.4(PCSK9):c.908G>A (p.Arg303His)
|
|
|
NM_174936.4(PCSK9):c.90G>A (p.Ala30=)
|
rs1644585418
|
|
NM_174936.4(PCSK9):c.914C>A (p.Ala305Glu)
|
|
|
NM_174936.4(PCSK9):c.915G>A (p.Ala305=)
|
|
|
NM_174936.4(PCSK9):c.922G>A (p.Gly308Arg)
|
|
|
NM_174936.4(PCSK9):c.927C>T (p.Val309=)
|
|
|
NM_174936.4(PCSK9):c.928G>A (p.Val310Met)
|
rs1200999906
|
|
NM_174936.4(PCSK9):c.928G>T (p.Val310Leu)
|
|
|
NM_174936.4(PCSK9):c.937A>G (p.Thr313Ala)
|
|
|
NM_174936.4(PCSK9):c.939C>T (p.Thr313=)
|
rs534113572
|
|
NM_174936.4(PCSK9):c.940G>C (p.Ala314Pro)
|
|
|
NM_174936.4(PCSK9):c.941C>T (p.Ala314Val)
|
rs971741435
|
|
NM_174936.4(PCSK9):c.946G>A (p.Gly316Ser)
|
rs554488891
|
|
NM_174936.4(PCSK9):c.946G>T (p.Gly316Cys)
|
|
|
NM_174936.4(PCSK9):c.948C>T (p.Gly316=)
|
|
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
|
|
NM_174936.4(PCSK9):c.953T>A (p.Phe318Tyr)
|
|
|
NM_174936.4(PCSK9):c.953del (p.Phe318fs)
|
|
|
NM_174936.4(PCSK9):c.954C>T (p.Phe318=)
|
|
|
NM_174936.4(PCSK9):c.956G>A (p.Arg319Gln)
|
rs1644712458
|
|
NM_174936.4(PCSK9):c.957G>A (p.Arg319=)
|
|
|
NM_174936.4(PCSK9):c.959A>G (p.Asp320Gly)
|
rs2100312745
|
|
NM_174936.4(PCSK9):c.95AGGACG[3] (p.32ED[3])
|
rs746705490
|
|
NM_174936.4(PCSK9):c.960C>A (p.Asp320Glu)
|
|
|
NM_174936.4(PCSK9):c.968G>A (p.Cys323Tyr)
|
rs1307302473
|
|
NM_174936.4(PCSK9):c.969C>T (p.Cys323=)
|
|
|
NM_174936.4(PCSK9):c.96G>A (p.Glu32=)
|
rs1291205662
|
|
NM_174936.4(PCSK9):c.96G>C (p.Glu32Asp)
|
|
|
NM_174936.4(PCSK9):c.984C>T (p.Ala328=)
|
|
|
NM_174936.4(PCSK9):c.986C>T (p.Ser329Leu)
|
|
|
NM_174936.4(PCSK9):c.989C>T (p.Ala330Val)
|
rs868240958
|
|
NM_174936.4(PCSK9):c.991C>T (p.Pro331Ser)
|
|
|
NM_174936.4(PCSK9):c.993C>G (p.Pro331=)
|
rs376753957
|
|
NM_174936.4(PCSK9):c.995A>G (p.Glu332Gly)
|
|
|
NM_174936.4(PCSK9):c.996+1G>A
|
|
|
NM_174936.4(PCSK9):c.996+44A>G
|
rs67578331
|
|
NM_174936.4(PCSK9):c.996+4G>A
|
|
|
NM_174936.4(PCSK9):c.996+5G>A
|
|
|
NM_174936.4(PCSK9):c.996+65G>C
|
rs886039847
|
|
NM_174936.4(PCSK9):c.996+6T>G
|
|
|
NM_174936.4(PCSK9):c.996+7dup
|
|
|
NM_174936.4(PCSK9):c.997-12T>A
|
rs1644722615
|
|
NM_174936.4(PCSK9):c.997-12T>C
|
rs1644722615
|
|
NM_174936.4(PCSK9):c.997-13_997-11del
|
rs1644722564
|
|
NM_174936.4(PCSK9):c.997-14C>T
|
rs2100319765
|
|
NM_174936.4(PCSK9):c.997-16C>T
|
|
|
NM_174936.4(PCSK9):c.997-17C>A
|
|
|
NM_174936.4(PCSK9):c.997-17C>T
|
|
|
NM_174936.4(PCSK9):c.997-2A>T
|
rs1401563215
|
|
NM_174936.4(PCSK9):c.999C>A (p.Val333=)
|
|
|