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_174936.3(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.*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.1354+9G>T
|
rs72646516
|
0.00337
|
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=)
|
rs146960060
|
0.00289
|
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.1851C>T (p.Ala617=)
|
rs140364657
|
0.00076
|
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)
|
rs145886902
|
0.00067
|
NM_174936.4(PCSK9):c.657+7A>C
|
rs72646506
|
0.00049
|
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.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.993C>T (p.Pro331=)
|
rs376753957
|
0.00022
|
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.1355-16C>G
|
rs28385713
|
0.00012
|
NM_174936.4(PCSK9):c.384C>T (p.Gly128=)
|
rs72646503
|
0.00011
|
NM_174936.4(PCSK9):c.276G>A (p.Glu92=)
|
rs147865087
|
0.00009
|
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
|
rs200091654
|
0.00007
|
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)
|
rs200856421
|
0.00007
|
NM_174936.4(PCSK9):c.429C>T (p.Ile143=)
|
rs368511429
|
0.00006
|
NM_174936.4(PCSK9):c.657+8C>T
|
rs376502208
|
0.00006
|
NM_174936.4(PCSK9):c.939C>G (p.Thr313=)
|
rs534113572
|
0.00006
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=)
|
rs199815786
|
0.00005
|
NM_174936.4(PCSK9):c.1681+10T>C
|
rs181296942
|
0.00004
|
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile)
|
rs201789841
|
0.00003
|
NM_174936.4(PCSK9):c.1119C>T (p.Ser373=)
|
rs139683719
|
0.00002
|
NM_174936.4(PCSK9):c.1270A>G (p.Ile424Val)
|
rs759250273
|
0.00002
|
NM_174936.4(PCSK9):c.*265C>T
|
rs368297335
|
0.00001
|
NM_174936.4(PCSK9):c.1560C>T (p.Val520=)
|
rs542863545
|
0.00001
|
NM_174936.4(PCSK9):c.341T>C (p.Val114Ala)
|
rs775988212
|
0.00001
|
GRCh37/hg19 1p32.3(chr1:55518371-55529332)x1
|
|
|
GRCh37/hg19 1p32.3(chr1:55518418-55529828)x1
|
|
|
GRCh37/hg19 1p32.3(chr1:55521713-55529228)x1
|
|
|
NM_174936.4(PCSK9):c.-168C>A
|
rs1553135350
|
|
NM_174936.4(PCSK9):c.-245G>T
|
rs28362201
|
|
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
|
|
|
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
|
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
|
|
|
NM_174936.4(PCSK9):c.1420_1422delinsATT (p.Val474Ile)
|
rs1644734137
|
|
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[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.1504-5C>G
|
rs763241481
|
|
NM_174936.4(PCSK9):c.1504-5_1504-4del
|
rs755817854
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
NM_174936.4(PCSK9):c.1682-3dup
|
rs749072203
|
|
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
|
|
|
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
|
|
|
NM_174936.4(PCSK9):c.250G>A (p.Glu84Lys)
|
rs1553135931
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
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.522C>T (p.Pro174=)
|
rs373018373
|
|
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs)
|
rs755197912
|
|
NM_174936.4(PCSK9):c.657+82G>A
|
rs625619
|
|
NM_174936.4(PCSK9):c.799+20G>A
|
|
|
NM_174936.4(PCSK9):c.800-17G>T
|
rs200551844
|
|
NM_174936.4(PCSK9):c.996+37_996+43del
|
|
|
NM_174936.4(PCSK9):c.996+44A>T
|
|
|