NM_014874.3(MFN2):c.-212T>C
|
rs2180183
|
0.53102
|
NM_014874.3(MFN2):c.-367A>G
|
rs2236054
|
0.52635
|
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)
|
rs1130529
|
0.32745
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_000302.4(PLOD1):c.294C>T (p.Phe98=)
|
rs7529452
|
0.24445
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)
|
rs2230898
|
0.05658
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_000302.4(PLOD1):c.644-17T>G
|
rs41307745
|
0.04239
|
NM_000302.4(PLOD1):c.*440G>C
|
rs11553681
|
0.03198
|
NM_000302.4(PLOD1):c.177C>T (p.Gly59=)
|
rs34032489
|
0.02651
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
NM_000302.4(PLOD1):c.1329-20G>A
|
rs78527487
|
0.02519
|
NM_000302.4(PLOD1):c.*71C>G
|
rs2230899
|
0.02327
|
NM_000302.4(PLOD1):c.1788G>T (p.Val596=)
|
rs35460537
|
0.02126
|
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)
|
rs879691
|
0.02109
|
NM_000302.4(PLOD1):c.77-3407C>T
|
rs75220940
|
0.01953
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
NM_000302.4(PLOD1):c.77-3370G>A
|
rs112799470
|
0.00836
|
NM_000302.4(PLOD1):c.302+15G>A
|
rs140227667
|
0.00760
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_000302.3(PLOD1):c.-77G>A
|
rs144465849
|
0.00649
|
NM_000302.4(PLOD1):c.975+13C>T
|
rs79345327
|
0.00627
|
NM_000302.4(PLOD1):c.76+17C>T
|
rs113691754
|
0.00498
|
NM_000302.4(PLOD1):c.*614G>T
|
rs15431
|
0.00472
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_000302.4(PLOD1):c.1902+13G>A
|
rs199765551
|
0.00259
|
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=)
|
rs74949176
|
0.00170
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_000302.4(PLOD1):c.2028+8G>T
|
rs181951731
|
0.00092
|
NM_000302.4(PLOD1):c.843+17G>C
|
rs201244598
|
0.00086
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_000302.4(PLOD1):c.776G>A (p.Arg259His)
|
rs144226170
|
0.00076
|
NM_000302.4(PLOD1):c.976-16C>T
|
rs142329815
|
0.00073
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile)
|
rs147940796
|
0.00058
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=)
|
rs139165192
|
0.00052
|
NM_000302.4(PLOD1):c.1584+17C>T
|
rs200962113
|
0.00052
|
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)
|
rs565765056
|
0.00045
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
NM_000302.4(PLOD1):c.1756-13C>T
|
rs370882934
|
0.00038
|
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=)
|
rs139468110
|
0.00034
|
NM_000302.4(PLOD1):c.608G>A (p.Arg203His)
|
rs145482271
|
0.00034
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)
|
rs373165011
|
0.00032
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
NM_000302.4(PLOD1):c.1471-9C>G
|
rs376476977
|
0.00029
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
0.00025
|
NM_000302.4(PLOD1):c.1471-8C>T
|
rs201661871
|
0.00023
|
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser)
|
rs141692280
|
0.00021
|
NM_000302.4(PLOD1):c.303-16G>A
|
rs369132980
|
0.00021
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met)
|
rs748526375
|
0.00019
|
NM_000302.4(PLOD1):c.411G>A (p.Arg137=)
|
rs151122664
|
0.00019
|
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)
|
rs200131516
|
0.00018
|
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)
|
rs144702307
|
0.00017
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)
|
rs146360295
|
0.00016
|
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp)
|
rs150852515
|
0.00016
|
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=)
|
rs139230801
|
0.00015
|
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)
|
rs147924545
|
0.00015
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_000302.4(PLOD1):c.2028+17C>T
|
rs373318413
|
0.00014
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_000302.4(PLOD1):c.644-11C>T
|
rs375303994
|
0.00013
|
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)
|
rs199669594
|
0.00013
|
NM_000302.4(PLOD1):c.843+10C>T
|
rs149399201
|
0.00013
|
NM_000302.4(PLOD1):c.853C>T (p.Leu285=)
|
rs370663808
|
0.00013
|
NM_000302.4(PLOD1):c.975+14G>A
|
rs371184529
|
0.00013
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)
|
rs143604754
|
0.00012
|
NM_000302.4(PLOD1):c.2181C>T (p.Pro727=)
|
rs140741046
|
0.00012
|
NM_000302.4(PLOD1):c.1608C>T (p.His536=)
|
rs138289419
|
0.00011
|
NM_000302.4(PLOD1):c.678G>A (p.Val226=)
|
rs371007185
|
0.00011
|
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val)
|
rs377080927
|
0.00010
|
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys)
|
rs750301725
|
0.00010
|
NM_000302.4(PLOD1):c.*721T>G
|
rs142707437
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)
|
rs202003686
|
0.00009
|
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met)
|
rs752708558
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000302.4(PLOD1):c.643+15C>T
|
rs376661744
|
0.00008
|
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
|
rs377497101
|
0.00007
|
NM_000302.4(PLOD1):c.1218G>A (p.Pro406=)
|
rs754812888
|
0.00007
|
NM_000302.4(PLOD1):c.1903-5T>A
|
rs776128914
|
0.00007
|
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val)
|
rs149161535
|
0.00007
|
NM_000302.4(PLOD1):c.579+16C>T
|
rs552192756
|
0.00007
|
NM_000302.4(PLOD1):c.*128A>G
|
rs927504122
|
0.00006
|
NM_000302.4(PLOD1):c.*528G>A
|
rs886045215
|
0.00006
|
NM_000302.4(PLOD1):c.1651-8C>T
|
rs191817164
|
0.00006
|
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val)
|
rs142916043
|
0.00006
|
NM_000302.4(PLOD1):c.276G>A (p.Glu92=)
|
rs768169776
|
0.00006
|
NM_000302.4(PLOD1):c.534C>T (p.Ser178=)
|
rs113384442
|
0.00006
|
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu)
|
rs375416784
|
0.00006
|
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val)
|
rs756600025
|
0.00006
|
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser)
|
rs538763801
|
0.00006
|
NM_000302.4(PLOD1):c.77-7T>C
|
rs371488160
|
0.00006
|
NM_000302.4(PLOD1):c.874G>A (p.Val292Met)
|
rs143114026
|
0.00006
|
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp)
|
rs11553674
|
0.00006
|
NM_000302.4(PLOD1):c.936C>T (p.His312=)
|
rs374787907
|
0.00006
|
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln)
|
rs370305686
|
0.00005
|
NM_000302.4(PLOD1):c.1071G>A (p.Ala357=)
|
rs374036329
|
0.00005
|
NM_000302.4(PLOD1):c.1202+3G>A
|
rs370358836
|
0.00005
|
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys)
|
rs763672034
|
0.00005
|
NM_000302.4(PLOD1):c.1470+14G>A
|
rs761691961
|
0.00005
|
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu)
|
rs766692124
|
0.00005
|
NM_000302.4(PLOD1):c.870C>T (p.Val290=)
|
rs373082170
|
0.00005
|
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln)
|
rs992278231
|
0.00005
|
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr)
|
rs141881216
|
0.00005
|
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp)
|
rs959635301
|
0.00005
|
NM_000302.3(PLOD1):c.-64C>G
|
rs886045195
|
0.00004
|
NM_000302.4(PLOD1):c.1026C>T (p.Ser342=)
|
rs140159343
|
0.00004
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
0.00004
|
NM_000302.4(PLOD1):c.1302C>T (p.Tyr434=)
|
rs759448456
|
0.00004
|
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp)
|
rs745946511
|
0.00004
|
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln)
|
rs750100311
|
0.00004
|
NM_000302.4(PLOD1):c.1471-18C>T
|
rs368968576
|
0.00004
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
NM_000302.4(PLOD1):c.1629G>C (p.Leu543=)
|
rs764355890
|
0.00004
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met)
|
rs770120389
|
0.00004
|
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys)
|
rs576416937
|
0.00004
|
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val)
|
rs777096767
|
0.00004
|
NM_000302.4(PLOD1):c.243G>A (p.Leu81=)
|
rs371574381
|
0.00004
|
NM_000302.4(PLOD1):c.30G>C (p.Leu10=)
|
rs886039113
|
0.00004
|
NM_000302.4(PLOD1):c.438C>T (p.Ser146=)
|
rs765725567
|
0.00004
|
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser)
|
rs772861343
|
0.00004
|
NM_000302.4(PLOD1):c.614G>A (p.Arg205His)
|
rs536503346
|
0.00004
|
NM_000302.4(PLOD1):c.742-5G>A
|
rs746658625
|
0.00004
|
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)
|
rs145447578
|
0.00004
|
NM_000302.4(PLOD1):c.930G>A (p.Arg310=)
|
rs751800110
|
0.00004
|
NM_000302.4(PLOD1):c.975C>T (p.His325=)
|
rs761576315
|
0.00004
|
NM_000302.4(PLOD1):c.*148C>G
|
rs886045211
|
0.00003
|
NM_000302.4(PLOD1):c.-39G>T
|
rs769995450
|
0.00003
|
NM_000302.4(PLOD1):c.1098-3C>T
|
rs541901674
|
0.00003
|
NM_000302.4(PLOD1):c.1110G>A (p.Arg370=)
|
rs148644646
|
0.00003
|
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=)
|
rs771685198
|
0.00003
|
NM_000302.4(PLOD1):c.1194A>G (p.Gln398=)
|
rs755978483
|
0.00003
|
NM_000302.4(PLOD1):c.1197G>A (p.Gln399=)
|
rs753853335
|
0.00003
|
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg)
|
rs373446893
|
0.00003
|
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys)
|
rs370790682
|
0.00003
|
NM_000302.4(PLOD1):c.1293C>T (p.Ser431=)
|
rs776976856
|
0.00003
|
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys)
|
rs138698098
|
0.00003
|
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu)
|
rs754569828
|
0.00003
|
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val)
|
rs369696269
|
0.00003
|
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp)
|
rs748646169
|
0.00003
|
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu)
|
rs775321665
|
0.00003
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys)
|
rs146092290
|
0.00003
|
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter)
|
rs121913554
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser)
|
rs747393648
|
0.00003
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile)
|
rs370498584
|
0.00003
|
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys)
|
rs754650948
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn)
|
rs774590964
|
0.00003
|
NM_000302.4(PLOD1):c.336G>A (p.Glu112=)
|
rs746999816
|
0.00003
|
NM_000302.4(PLOD1):c.407G>A (p.Arg136His)
|
rs148510973
|
0.00003
|
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys)
|
rs780519821
|
0.00003
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_000302.4(PLOD1):c.684G>A (p.Ala228=)
|
rs183225496
|
0.00003
|
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe)
|
rs777914756
|
0.00003
|
NM_000302.4(PLOD1):c.774G>A (p.Pro258=)
|
rs753994916
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu)
|
rs1056398577
|
0.00003
|
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met)
|
rs879902079
|
0.00003
|
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=)
|
rs755056846
|
0.00002
|
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val)
|
rs763906693
|
0.00002
|
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met)
|
rs371223839
|
0.00002
|
NM_000302.4(PLOD1):c.1202+7C>T
|
rs1264171984
|
0.00002
|
NM_000302.4(PLOD1):c.128G>A (p.Arg43His)
|
rs141704997
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000302.4(PLOD1):c.1554C>T (p.Asn518=)
|
rs759491848
|
0.00002
|
NM_000302.4(PLOD1):c.1651-10C>T
|
rs755961387
|
0.00002
|
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln)
|
rs150184664
|
0.00002
|
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu)
|
rs1485759254
|
0.00002
|
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser)
|
rs761352524
|
0.00002
|
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser)
|
rs764750668
|
0.00002
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu)
|
rs1085307517
|
0.00002
|
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln)
|
rs1282397747
|
0.00002
|
NM_000302.4(PLOD1):c.2013C>T (p.Val671=)
|
rs541261242
|
0.00002
|
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)
|
rs773756799
|
0.00002
|
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met)
|
rs377406897
|
0.00002
|
NM_000302.4(PLOD1):c.302+5G>A
|
rs749607584
|
0.00002
|
NM_000302.4(PLOD1):c.310G>A (p.Val104Met)
|
rs141809154
|
0.00002
|
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr)
|
rs1156606108
|
0.00002
|
NM_000302.4(PLOD1):c.466+12G>T
|
rs774213935
|
0.00002
|
NM_000302.4(PLOD1):c.570G>A (p.Pro190=)
|
rs776173072
|
0.00002
|
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp)
|
rs746416126
|
0.00002
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln)
|
rs776949094
|
0.00002
|
NM_000302.4(PLOD1):c.834G>A (p.Lys278=)
|
rs557353959
|
0.00002
|
NM_000302.4(PLOD1):c.844-6G>T
|
rs767068264
|
0.00002
|
NM_000302.4(PLOD1):c.861G>A (p.Thr287=)
|
rs747570972
|
0.00002
|
NM_000302.4(PLOD1):c.882C>T (p.Ile294=)
|
rs747668784
|
0.00002
|
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu)
|
rs760230526
|
0.00002
|
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp)
|
rs370736543
|
0.00002
|
NM_000302.4(PLOD1):c.939C>T (p.Tyr313=)
|
rs1411565422
|
0.00002
|
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser)
|
rs200524993
|
0.00002
|
NM_000302.4(PLOD1):c.-58G>A
|
rs552712043
|
0.00001
|
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp)
|
rs1195535094
|
0.00001
|
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys)
|
rs748344499
|
0.00001
|
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp)
|
rs775007891
|
0.00001
|
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=)
|
rs1159010003
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr)
|
rs367592901
|
0.00001
|
NM_000302.4(PLOD1):c.1097+10G>A
|
rs562510011
|
0.00001
|
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser)
|
rs754748178
|
0.00001
|
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys)
|
rs538407894
|
0.00001
|
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys)
|
rs373520363
|
0.00001
|
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys)
|
rs764179880
|
0.00001
|
NM_000302.4(PLOD1):c.117G>A (p.Glu39=)
|
rs779453447
|
0.00001
|
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp)
|
rs1428519006
|
0.00001
|
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln)
|
rs767839550
|
0.00001
|
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro)
|
rs1434675020
|
0.00001
|
NM_000302.4(PLOD1):c.1202+14G>A
|
rs757830518
|
0.00001
|
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile)
|
rs773517731
|
0.00001
|
NM_000302.4(PLOD1):c.1209C>T (p.Val403=)
|
rs1401528073
|
0.00001
|
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu)
|
rs753623016
|
0.00001
|
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys)
|
rs778603432
|
0.00001
|
NM_000302.4(PLOD1):c.1299C>T (p.Asp433=)
|
rs886039111
|
0.00001
|
NM_000302.4(PLOD1):c.1317G>A (p.Gln439=)
|
rs1334363341
|
0.00001
|
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His)
|
rs199567720
|
0.00001
|
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp)
|
rs1204551467
|
0.00001
|
NM_000302.4(PLOD1):c.135G>A (p.Lys45=)
|
rs765354146
|
0.00001
|
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser)
|
rs758780380
|
0.00001
|
NM_000302.4(PLOD1):c.1461C>T (p.Ile487=)
|
rs746099980
|
0.00001
|
NM_000302.4(PLOD1):c.1471-17G>A
|
rs373324035
|
0.00001
|
NM_000302.4(PLOD1):c.1471-2A>G
|
rs1401035675
|
0.00001
|
NM_000302.4(PLOD1):c.1471-6C>T
|
rs751904520
|
0.00001
|
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile)
|
rs780133138
|
0.00001
|
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg)
|
rs555034048
|
0.00001
|
NM_000302.4(PLOD1):c.1515G>A (p.Leu505=)
|
rs1034116707
|
0.00001
|
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe)
|
rs1374717198
|
0.00001
|
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=)
|
rs1025133534
|
0.00001
|
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His)
|
rs773170096
|
0.00001
|
NM_000302.4(PLOD1):c.1542C>T (p.Thr514=)
|
rs916626462
|
0.00001
|
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr)
|
rs746905101
|
0.00001
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val)
|
rs376017234
|
0.00001
|
NM_000302.4(PLOD1):c.1659G>A (p.Pro553=)
|
rs778242162
|
0.00001
|
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter)
|
rs1433428588
|
0.00001
|
NM_000302.4(PLOD1):c.169-6C>T
|
rs766073845
|
0.00001
|
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp)
|
rs769499769
|
0.00001
|
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu)
|
rs766973023
|
0.00001
|
NM_000302.4(PLOD1):c.1872G>A (p.Thr624=)
|
rs1026914936
|
0.00001
|
NM_000302.4(PLOD1):c.1887C>T (p.Pro629=)
|
rs1359830439
|
0.00001
|
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
|
rs1439043436
|
0.00001
|
NM_000302.4(PLOD1):c.1926C>T (p.Val642=)
|
rs763454814
|
0.00001
|
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg)
|
rs1221992885
|
0.00001
|
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val)
|
rs1487304416
|
0.00001
|
NM_000302.4(PLOD1):c.1998C>T (p.Ile666=)
|
rs748080300
|
0.00001
|
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln)
|
rs755654001
|
0.00001
|
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys)
|
rs748841458
|
0.00001
|
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His)
|
rs772498138
|
0.00001
|
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter)
|
rs373094220
|
0.00001
|
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val)
|
rs1415378080
|
0.00001
|
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met)
|
rs780253192
|
0.00001
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
NM_000302.4(PLOD1):c.2172C>T (p.Phe724=)
|
rs1255270684
|
0.00001
|
NM_000302.4(PLOD1):c.2175C>T (p.Val725=)
|
rs768818916
|
0.00001
|
NM_000302.4(PLOD1):c.246G>A (p.Lys82=)
|
rs1258534388
|
0.00001
|
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser)
|
rs886039207
|
0.00001
|
NM_000302.4(PLOD1):c.303-7G>A
|
rs1428437805
|
0.00001
|
NM_000302.4(PLOD1):c.309C>T (p.Asp103=)
|
rs750096749
|
0.00001
|
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp)
|
rs772221158
|
0.00001
|
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp)
|
rs771186398
|
0.00001
|
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln)
|
rs781455578
|
0.00001
|
NM_000302.4(PLOD1):c.354G>C (p.Arg118=)
|
rs746072884
|
0.00001
|
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser)
|
rs768422539
|
0.00001
|
NM_000302.4(PLOD1):c.466+3G>A
|
rs779840832
|
0.00001
|
NM_000302.4(PLOD1):c.467-2del
|
rs1440249864
|
0.00001
|
NM_000302.4(PLOD1):c.498A>G (p.Lys166=)
|
rs1290621264
|
0.00001
|
NM_000302.4(PLOD1):c.54G>A (p.Ala18=)
|
rs1266038179
|
0.00001
|
NM_000302.4(PLOD1):c.562T>C (p.Leu188=)
|
rs967684441
|
0.00001
|
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser)
|
rs750416079
|
0.00001
|
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys)
|
rs534314930
|
0.00001
|
NM_000302.4(PLOD1):c.643+13C>A
|
rs1297071034
|
0.00001
|
NM_000302.4(PLOD1):c.643+8G>T
|
rs768848010
|
0.00001
|
NM_000302.4(PLOD1):c.644-16G>A
|
rs778818723
|
0.00001
|
NM_000302.4(PLOD1):c.651C>T (p.Val217=)
|
rs759435283
|
0.00001
|
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala)
|
rs376643174
|
0.00001
|
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)
|
rs1438879558
|
0.00001
|
NM_000302.4(PLOD1):c.741+4G>C
|
rs763641520
|
0.00001
|
NM_000302.4(PLOD1):c.741+7G>A
|
rs751215041
|
0.00001
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
NM_000302.4(PLOD1):c.789C>T (p.Phe263=)
|
rs908800499
|
0.00001
|
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp)
|
rs558752942
|
0.00001
|
NM_000302.4(PLOD1):c.824G>A (p.Arg275His)
|
rs184999645
|
0.00001
|
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)
|
rs776894307
|
0.00001
|
NM_000302.4(PLOD1):c.844-16G>A
|
rs565657931
|
0.00001
|
NM_000302.4(PLOD1):c.846T>C (p.Asp282=)
|
rs755620088
|
0.00001
|
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser)
|
rs748920493
|
0.00001
|
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met)
|
rs777957649
|
0.00001
|
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser)
|
rs776772692
|
0.00001
|
NM_000302.4(PLOD1):c.873C>T (p.Gly291=)
|
rs1391173198
|
0.00001
|
NM_000302.4(PLOD1):c.894G>A (p.Thr298=)
|
rs763229200
|
0.00001
|
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu)
|
rs532145123
|
0.00001
|
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln)
|
rs960778465
|
0.00001
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
NM_000302.4(PLOD1):c.951C>T (p.His317=)
|
rs770032875
|
0.00001
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
0.00001
|
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)
|
rs1224538282
|
0.00001
|
NC_000001.10:g.(?_11847760)_(12066770_?)dup
|
|
|
NC_000001.10:g.(?_11994817)_(11994932_?)dup
|
|
|
NC_000001.10:g.(?_11994837)_(12034865_?)dup
|
|
|
NC_000001.10:g.(?_12008013)_(12008144_?)del
|
|
|
NC_000001.10:g.(?_12008013)_(12010597_?)del
|
|
|
NC_000001.10:g.(?_12014867)_(12014970_?)del
|
|
|
NC_000001.10:g.(?_12020683)_(12027168_?)dup
|
|
|
NC_000001.10:g.(?_12020693)_(12027158_?)dup
|
|
|
NC_000001.10:g.(?_12020703)_(12027148_?)dup
|
|
|
NC_000001.10:g.(?_12022996)_(12026348_?)del
|
|
|
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
|
|
|
NC_000001.11:g.(?_11934770)_(11934865_?)dup
|
|
|
NC_000001.11:g.(?_11949763)_(11952745_?)del
|
|
|
NC_000001.11:g.11963531GA[1]
|
|
|
NM_000302.3(PLOD1):c.1756_1902del
|
|
|
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
|
|
|
NM_000302.4(PLOD1):c.*117A>G
|
rs886045210
|
|
NM_000302.4(PLOD1):c.*276T>C
|
rs886045212
|
|
NM_000302.4(PLOD1):c.*308C>G
|
rs886045213
|
|
NM_000302.4(PLOD1):c.*419C>T
|
rs886045214
|
|
NM_000302.4(PLOD1):c.*461G>T
|
rs1271843257
|
|
NM_000302.4(PLOD1):c.*61T>C
|
rs886045209
|
|
NM_000302.4(PLOD1):c.-61C>T
|
rs566803699
|
|
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)
|
rs747037908
|
|
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
|
rs1569713366
|
|
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
|
|
|
NM_000302.4(PLOD1):c.1038T>G (p.Ser346=)
|
|
|
NM_000302.4(PLOD1):c.1050G>C (p.Val350=)
|
|
|
NM_000302.4(PLOD1):c.1077A>G (p.Ala359=)
|
rs1569713675
|
|
NM_000302.4(PLOD1):c.1097+11G>C
|
|
|
NM_000302.4(PLOD1):c.1097+13C>T
|
|
|
NM_000302.4(PLOD1):c.1097+14C>T
|
|
|
NM_000302.4(PLOD1):c.1097+17A>C
|
|
|
NM_000302.4(PLOD1):c.1097+17A>G
|
|
|
NM_000302.4(PLOD1):c.1097+17A>T
|
|
|
NM_000302.4(PLOD1):c.1097+17dup
|
|
|
NM_000302.4(PLOD1):c.1097+18G>C
|
|
|
NM_000302.4(PLOD1):c.1097+1G>A
|
rs1389548210
|
|
NM_000302.4(PLOD1):c.1097+1G>C
|
|
|
NM_000302.4(PLOD1):c.1097+7T>C
|
|
|
NM_000302.4(PLOD1):c.1098-11C>T
|
|
|
NM_000302.4(PLOD1):c.1098-13C>G
|
|
|
NM_000302.4(PLOD1):c.1098-13C>T
|
rs372681138
|
|
NM_000302.4(PLOD1):c.1098-19T>C
|
|
|
NM_000302.4(PLOD1):c.1098-20C>T
|
|
|
NM_000302.4(PLOD1):c.1098-20_1098-19del
|
|
|
NM_000302.4(PLOD1):c.1098-5T>C
|
|
|
NM_000302.4(PLOD1):c.1098-8C>G
|
|
|
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr)
|
rs2100756894
|
|
NM_000302.4(PLOD1):c.10C>T (p.Leu4=)
|
|
|
NM_000302.4(PLOD1):c.1101C>T (p.Asp367=)
|
|
|
NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)
|
|
|
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs)
|
|
|
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp)
|
rs763065699
|
|
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe)
|
rs749210400
|
|
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu)
|
rs2230896
|
|
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala)
|
rs998178222
|
|
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly)
|
rs998178222
|
|
NM_000302.4(PLOD1):c.114C>T (p.Thr38=)
|
rs11553679
|
|
NM_000302.4(PLOD1):c.1170C>T (p.Pro390=)
|
rs1482515706
|
|
NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs)
|
rs2100756997
|
|
NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)
|
|
|
NM_000302.4(PLOD1):c.1186C>T (p.Leu396=)
|
|
|
NM_000302.4(PLOD1):c.1191C>A (p.Ile397=)
|
rs899107980
|
|
NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
|
|
|
NM_000302.4(PLOD1):c.1202+11T>A
|
|
|
NM_000302.4(PLOD1):c.1202+12C>A
|
|
|
NM_000302.4(PLOD1):c.1202+13C>T
|
|
|
NM_000302.4(PLOD1):c.1202+15T>C
|
|
|
NM_000302.4(PLOD1):c.1202+19C>T
|
|
|
NM_000302.4(PLOD1):c.1202+1G>A
|
|
|
NM_000302.4(PLOD1):c.1202+2T>C
|
|
|
NM_000302.4(PLOD1):c.1202+9G>C
|
|
|
NM_000302.4(PLOD1):c.1203-10C>G
|
rs1569721056
|
|
NM_000302.4(PLOD1):c.1203-13T>C
|
|
|
NM_000302.4(PLOD1):c.1203-16del
|
|
|
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala)
|
rs760764359
|
|
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser)
|
rs760764359
|
|
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln)
|
rs371001571
|
|
NM_000302.4(PLOD1):c.1230G>T (p.Arg410=)
|
|
|
NM_000302.4(PLOD1):c.1233T>C (p.His411=)
|
|
|
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu)
|
rs2100757756
|
|
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro)
|
rs1569721294
|
|
NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)
|
|
|
NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
|
|
|
NM_000302.4(PLOD1):c.125G>A (p.Arg42His)
|
rs202116614
|
|
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
|
|
|
NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
|
|
|
NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)
|
|
|
NM_000302.4(PLOD1):c.1284T>C (p.Tyr428=)
|
|
|
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
|
|
|
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala)
|
rs1645800221
|
|
NM_000302.4(PLOD1):c.1305G>A (p.Val435=)
|
|
|
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
|
|
|
NM_000302.4(PLOD1):c.1321C>A (p.Arg441=)
|
rs11553676
|
|
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln)
|
rs934141011
|
|
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe)
|
rs1445338657
|
|
NM_000302.4(PLOD1):c.1328+16G>A
|
|
|
NM_000302.4(PLOD1):c.1328+1G>A
|
|
|
NM_000302.4(PLOD1):c.1329-13G>A
|
|
|
NM_000302.4(PLOD1):c.1329-1G>T
|
rs112460511
|
|
NM_000302.4(PLOD1):c.1329-6C>T
|
|
|
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)
|
rs922997919
|
|
NM_000302.4(PLOD1):c.1344G>A (p.Val448=)
|
|
|
NM_000302.4(PLOD1):c.1347C>G (p.Pro449=)
|
|
|
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys)
|
rs1264798278
|
|
NM_000302.4(PLOD1):c.1356A>T (p.Ser452=)
|
|
|
NM_000302.4(PLOD1):c.1359C>T (p.Asn453=)
|
|
|
NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
|
|
|
NM_000302.4(PLOD1):c.1386G>A (p.Leu462=)
|
|
|
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val)
|
rs1645803161
|
|
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
|
|
|
NM_000302.4(PLOD1):c.1401G>A (p.Gln467=)
|
rs2100758313
|
|
NM_000302.4(PLOD1):c.1419C>T (p.His473=)
|
|
|
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro)
|
rs2100758364
|
|
NM_000302.4(PLOD1):c.1437C>T (p.Pro479=)
|
|
|
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val)
|
rs2100758386
|
|
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser)
|
rs1490187110
|
|
NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter)
|
rs1189324317
|
|
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
|
|
|
NM_000302.4(PLOD1):c.1464G>A (p.Arg488=)
|
rs2100758413
|
|
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg)
|
rs1156431423
|
|
NM_000302.4(PLOD1):c.1470+11A>G
|
rs768467070
|
|
NM_000302.4(PLOD1):c.1470+12G>A
|
|
|
NM_000302.4(PLOD1):c.1470+13C>T
|
|
|
NM_000302.4(PLOD1):c.1470+18A>G
|
|
|
NM_000302.4(PLOD1):c.1470+2T>C
|
rs886043927
|
|
NM_000302.4(PLOD1):c.1470+5G>A
|
rs1553136223
|
|
NM_000302.4(PLOD1):c.1471-13C>T
|
|
|
NM_000302.4(PLOD1):c.1471-14C>T
|
rs2100759144
|
|
NM_000302.4(PLOD1):c.1471-16G>T
|
|
|
NM_000302.4(PLOD1):c.1471-17G>C
|
|
|
NM_000302.4(PLOD1):c.1471-17G>T
|
|
|
NM_000302.4(PLOD1):c.1471-18del
|
|
|
NM_000302.4(PLOD1):c.1471-20A>G
|
|
|
NM_000302.4(PLOD1):c.1471-4C>T
|
|
|
NM_000302.4(PLOD1):c.1471-8C>G
|
|
|
NM_000302.4(PLOD1):c.1471-9C>A
|
rs376476977
|
|
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT
|
rs1553136318
|
|
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn)
|
rs1283020139
|
|
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly)
|
rs2100759169
|
|
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile)
|
rs750942824
|
|
NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)
|
|
|
NM_000302.4(PLOD1):c.1479dup (p.Met494fs)
|
rs1569724692
|
|
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
|
|
|
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys)
|
rs1645810603
|
|
NM_000302.4(PLOD1):c.1494C>T (p.Asn498=)
|
rs1645810603
|
|
NM_000302.4(PLOD1):c.1511_1513del (p.His504del)
|
rs2100759209
|
|
NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
|
|
|
NM_000302.4(PLOD1):c.1546C>T (p.Leu516=)
|
|
|
NM_000302.4(PLOD1):c.1548G>C (p.Leu516=)
|
|
|
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
|
|
|
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
|
|
|
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu)
|
rs1429074293
|
|
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys)
|
rs758701213
|
|
NM_000302.4(PLOD1):c.1578C>T (p.Asn526=)
|
|
|
NM_000302.4(PLOD1):c.1584+11G>C
|
|
|
NM_000302.4(PLOD1):c.1584+12G>T
|
|
|
NM_000302.4(PLOD1):c.1584+16G>A
|
|
|
NM_000302.4(PLOD1):c.1584+1G>A
|
rs746930362
|
|
NM_000302.4(PLOD1):c.1584+1G>T
|
|
|
NM_000302.4(PLOD1):c.1584+20A>G
|
|
|
NM_000302.4(PLOD1):c.1585-11A>T
|
|
|
NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]
|
|
|
NM_000302.4(PLOD1):c.1585-19T>C
|
rs1645816365
|
|
NM_000302.4(PLOD1):c.1585-2A>G
|
|
|
NM_000302.4(PLOD1):c.1585-5C>A
|
|
|
NM_000302.4(PLOD1):c.1585-7C>T
|
|
|
NM_000302.4(PLOD1):c.1585-9T>G
|
|
|
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del)
|
rs797044446
|
|
NM_000302.4(PLOD1):c.159C>T (p.Tyr53=)
|
rs1569682156
|
|
NM_000302.4(PLOD1):c.1605C>T (p.Ile535=)
|
|
|
NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)
|
|
|
NM_000302.4(PLOD1):c.1627C>T (p.Leu543=)
|
|
|
NM_000302.4(PLOD1):c.1632A>T (p.Ala544=)
|
|
|
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg)
|
rs886045204
|
|
NM_000302.4(PLOD1):c.1635G>A (p.Gly545=)
|
rs2100760044
|
|
NM_000302.4(PLOD1):c.1638G>A (p.Lys546=)
|
rs1569726862
|
|
NM_000302.4(PLOD1):c.1646del (p.Glu549fs)
|
rs2100760068
|
|
NM_000302.4(PLOD1):c.1650+11T>C
|
|
|
NM_000302.4(PLOD1):c.1650+12G>A
|
|
|
NM_000302.4(PLOD1):c.1650+13del
|
|
|
NM_000302.4(PLOD1):c.1650+15C>T
|
|
|
NM_000302.4(PLOD1):c.1650+16_1650+19del
|
|
|
NM_000302.4(PLOD1):c.1650+18C>A
|
|
|
NM_000302.4(PLOD1):c.1650+19C>T
|
|
|
NM_000302.4(PLOD1):c.1650+20T>C
|
|
|
NM_000302.4(PLOD1):c.1650+8C>T
|
|
|
NM_000302.4(PLOD1):c.1651-16T>A
|
|
|
NM_000302.4(PLOD1):c.1651-19G>A
|
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
NM_000302.4(PLOD1):c.1651-2del
|
rs797044447
|
|
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser)
|
rs1324129456
|
|
NM_000302.4(PLOD1):c.1653C>A (p.Pro551=)
|
|
|
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
|
|
|
NM_000302.4(PLOD1):c.1665C>T (p.Val555=)
|
|
|
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
|
|
|
NM_000302.4(PLOD1):c.168+16G>A
|
|
|
NM_000302.4(PLOD1):c.168+1G>T
|
|
|
NM_000302.4(PLOD1):c.168+9T>C
|
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
NM_000302.4(PLOD1):c.169-12G>A
|
|
|
NM_000302.4(PLOD1):c.169-16G>A
|
|
|
NM_000302.4(PLOD1):c.169-17G>A
|
|
|
NM_000302.4(PLOD1):c.169-4C>T
|
|
|
NM_000302.4(PLOD1):c.1692G>A (p.Val564=)
|
|
|
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe)
|
rs377325169
|
|
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
|
|
|
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys)
|
rs761949919
|
|
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln)
|
rs773547480
|
|
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
|
|
|
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val)
|
rs753862253
|
|
NM_000302.4(PLOD1):c.1710G>A (p.Val570=)
|
|
|
NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
|
|
|
NM_000302.4(PLOD1):c.1713G>A (p.Glu571=)
|
|
|
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr)
|
rs1645823972
|
|
NM_000302.4(PLOD1):c.171G>A (p.Ala57=)
|
|
|
NM_000302.4(PLOD1):c.1722G>A (p.Glu574=)
|
|
|
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp)
|
rs1331435501
|
|
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
|
|
|
NM_000302.4(PLOD1):c.174T>G (p.Leu58=)
|
rs2100743311
|
|
NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)
|
|
|
NM_000302.4(PLOD1):c.1755+20G>T
|
|
|
NM_000302.4(PLOD1):c.1755+9C>G
|
|
|
NM_000302.4(PLOD1):c.1755+9C>T
|
|
|
NM_000302.4(PLOD1):c.1756-12G>T
|
|
|
NM_000302.4(PLOD1):c.1756-13C>A
|
|
|
NM_000302.4(PLOD1):c.1756-13C>G
|
|
|
NM_000302.4(PLOD1):c.1756-15C>G
|
|
|
NM_000302.4(PLOD1):c.1756-1_1767dup
|
|
|
NM_000302.4(PLOD1):c.1756-20T>G
|
rs1310114003
|
|
NM_000302.4(PLOD1):c.1756-6C>A
|
|
|
NM_000302.4(PLOD1):c.1756-7C>T
|
|
|
NM_000302.4(PLOD1):c.1756-9C>T
|
|
|
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
|
|
|
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
|
|
|
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu)
|
rs755346019
|
|
NM_000302.4(PLOD1):c.1764C>T (p.Arg588=)
|
|
|
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro)
|
rs2100764621
|
|
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala)
|
rs138106022
|
|
NM_000302.4(PLOD1):c.1772del (p.Gly591fs)
|
rs1645855563
|
|
NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)
|
|
|
NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=)
|
|
|
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
|
|
|
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
|
rs771350321
|
|
NM_000302.4(PLOD1):c.1785C>T (p.Asn595=)
|
|
|
NM_000302.4(PLOD1):c.1791G>A (p.Pro597=)
|
rs151051718
|
|
NM_000302.4(PLOD1):c.1791G>C (p.Pro597=)
|
rs151051718
|
|
NM_000302.4(PLOD1):c.1794T>G (p.Thr598=)
|
rs773916889
|
|
NM_000302.4(PLOD1):c.1795del (p.Ile599fs)
|
rs1557500194
|
|
NM_000302.4(PLOD1):c.1800C>T (p.Asp600=)
|
|
|
NM_000302.4(PLOD1):c.1803C>T (p.Ile601=)
|
|
|
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
|
|
|
NM_000302.4(PLOD1):c.1806C>T (p.His602=)
|
|
|
NM_000302.4(PLOD1):c.180A>G (p.Leu60=)
|
|
|
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
|
|
|
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
|
|
|
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
|
|
|
NM_000302.4(PLOD1):c.1815G>A (p.Gln605=)
|
|
|
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=)
|
rs372579008
|
|
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
|
|
|
NM_000302.4(PLOD1):c.1833G>A (p.Glu611=)
|
|
|
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys)
|
rs121913553
|
|
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln)
|
rs768638113
|
|
NM_000302.4(PLOD1):c.1839_1902+64del
|
rs2100764790
|
|
NM_000302.4(PLOD1):c.183G>A (p.Gly61=)
|
|
|
NM_000302.4(PLOD1):c.1863G>A (p.Ala621=)
|
rs912522044
|
|
NM_000302.4(PLOD1):c.1866C>G (p.Pro622=)
|
|
|
NM_000302.4(PLOD1):c.1866C>T (p.Pro622=)
|
|
|
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met)
|
rs760314787
|
|
NM_000302.4(PLOD1):c.1878G>A (p.Lys626=)
|
|
|
NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)
|
|
|
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala)
|
rs920188548
|
|
NM_000302.4(PLOD1):c.1887C>G (p.Pro629=)
|
|
|
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp)
|
rs1645857603
|
|
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys)
|
rs752084194
|
|
NM_000302.4(PLOD1):c.1896C>T (p.Tyr632=)
|
|
|
NM_000302.4(PLOD1):c.189C>T (p.Asp63=)
|
rs1259023201
|
|
NM_000302.4(PLOD1):c.1902+3G>A
|
rs1645857795
|
|
NM_000302.4(PLOD1):c.1903-12G>C
|
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000302.4(PLOD1):c.1903-15C>T
|
|
|
NM_000302.4(PLOD1):c.1903-17C>T
|
|
|
NM_000302.4(PLOD1):c.1903-18C>A
|
rs750758605
|
|
NM_000302.4(PLOD1):c.1903-18C>T
|
rs750758605
|
|
NM_000302.4(PLOD1):c.1903-20del
|
|
|
NM_000302.4(PLOD1):c.1903-2A>G
|
rs1553137486
|
|
NM_000302.4(PLOD1):c.1903-2A>T
|
|
|
NM_000302.4(PLOD1):c.1905C>G (p.Ala635=)
|
|
|
NM_000302.4(PLOD1):c.1905C>T (p.Ala635=)
|
|
|
NM_000302.4(PLOD1):c.1908G>A (p.Gln636=)
|
|
|
NM_000302.4(PLOD1):c.1911T>C (p.Phe637=)
|
|
|
NM_000302.4(PLOD1):c.1929C>T (p.Val643=)
|
rs752137195
|
|
NM_000302.4(PLOD1):c.1930del (p.Arg644fs)
|
rs1557501741
|
|
NM_000302.4(PLOD1):c.1947G>A (p.Glu649=)
|
|
|
NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)
|
|
|
NM_000302.4(PLOD1):c.1968C>T (p.His656=)
|
|
|
NM_000302.4(PLOD1):c.1971T>C (p.His657=)
|
|
|
NM_000302.4(PLOD1):c.1977C>T (p.Ala659=)
|
|
|
NM_000302.4(PLOD1):c.1986C>T (p.Phe662=)
|
|
|
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
|
|
|
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr)
|
|
|
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter)
|
rs1434924385
|
|
NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=)
|
|
|
NM_000302.4(PLOD1):c.2028+12C>A
|
|
|
NM_000302.4(PLOD1):c.2028+12C>G
|
|
|
NM_000302.4(PLOD1):c.2028+16C>G
|
|
|
NM_000302.4(PLOD1):c.2028+17C>G
|
|
|
NM_000302.4(PLOD1):c.2028+18G>A
|
|
|
NM_000302.4(PLOD1):c.2028+7A>C
|
|
|
NM_000302.4(PLOD1):c.2029-20T>C
|
|
|
NM_000302.4(PLOD1):c.2029-20T>G
|
|
|
NM_000302.4(PLOD1):c.2029-3del
|
rs1273287120
|
|
NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)
|
|
|
NM_000302.4(PLOD1):c.2034G>A (p.Gly678=)
|
|
|
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp)
|
rs1281801241
|
|
NM_000302.4(PLOD1):c.2043G>T (p.Arg681=)
|
rs2100768727
|
|
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
|
|
|
NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=)
|
|
|
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys)
|
rs1010336383
|
|
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser)
|
rs2100768765
|
|
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val)
|
rs1553137685
|
|
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln)
|
rs886045208
|
|
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn)
|
rs1645891475
|
|
NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)
|
|
|
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
|
|
|
NM_000302.4(PLOD1):c.2115G>A (p.Thr705=)
|
|
|
NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)
|
|
|
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His)
|
rs1645892067
|
|
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu)
|
rs2100743367
|
|
NM_000302.4(PLOD1):c.2130G>A (p.Gly710=)
|
|
|
NM_000302.4(PLOD1):c.2136C>A (p.Pro712=)
|
|
|
NM_000302.4(PLOD1):c.2136C>T (p.Pro712=)
|
|
|
NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)
|
|
|
NM_000302.4(PLOD1):c.213G>A (p.Ser71=)
|
|
|
NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)
|
|
|
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val)
|
rs2100743381
|
|
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
|
|
|
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser)
|
rs781689639
|
|
NM_000302.4(PLOD1):c.2163A>C (p.Ala721=)
|
|
|
NM_000302.4(PLOD1):c.2164del (p.Val722fs)
|
rs1645892679
|
|
NM_000302.4(PLOD1):c.2169C>T (p.Ser723=)
|
|
|
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del)
|
rs1310692062
|
|
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile)
|
rs151247380
|
|
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu)
|
rs151247380
|
|
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
|
|
|
NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)
|
|
|
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val)
|
rs1034357016
|
|
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
|
|
|
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe)
|
rs1306060482
|
|
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp)
|
rs886045200
|
|
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val)
|
rs1348207190
|
|
NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro)
|
|
|
NM_000302.4(PLOD1):c.25C>T (p.Leu9=)
|
|
|
NM_000302.4(PLOD1):c.262C>G (p.His88Asp)
|
rs1645686634
|
|
NM_000302.4(PLOD1):c.264C>T (p.His88=)
|
|
|
NM_000302.4(PLOD1):c.272del (p.Lys91fs)
|
rs2100743480
|
|
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
|
|
|
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
|
|
|
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)
|
rs763494719
|
|
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
|
|
|
NM_000302.4(PLOD1):c.297A>G (p.Ala99=)
|
rs2100743542
|
|
NM_000302.4(PLOD1):c.302+3_302+6del
|
rs2100743549
|
|
NM_000302.4(PLOD1):c.302+5G>C
|
rs749607584
|
|
NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA
|
|
|
NM_000302.4(PLOD1):c.303-13G>C
|
|
|
NM_000302.4(PLOD1):c.303-14T>C
|
|
|
NM_000302.4(PLOD1):c.303-17C>T
|
|
|
NM_000302.4(PLOD1):c.303-18T>G
|
rs2100743986
|
|
NM_000302.4(PLOD1):c.303-18_303-17del
|
rs2100743981
|
|
NM_000302.4(PLOD1):c.303-20T>G
|
|
|
NM_000302.4(PLOD1):c.303-6C>T
|
rs2100744004
|
|
NM_000302.4(PLOD1):c.30G>A (p.Leu10=)
|
rs886039113
|
|
NM_000302.4(PLOD1):c.312G>C (p.Val104=)
|
|
|
NM_000302.4(PLOD1):c.313C>T (p.Leu105=)
|
rs1557487050
|
|
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln)
|
rs1553133902
|
|
NM_000302.4(PLOD1):c.315G>A (p.Leu105=)
|
|
|
NM_000302.4(PLOD1):c.315_317del (p.Phe106del)
|
rs770511543
|
|
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)
|
rs549517196
|
|
NM_000302.4(PLOD1):c.327del (p.Arg111fs)
|
rs886042976
|
|
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
|
|
|
NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)
|
|
|
NM_000302.4(PLOD1):c.33C>T (p.Gly11=)
|
rs2100729686
|
|
NM_000302.4(PLOD1):c.340C>T (p.Leu114=)
|
|
|
NM_000302.4(PLOD1):c.345G>A (p.Lys115=)
|
|
|
NM_000302.4(PLOD1):c.351C>T (p.Phe117=)
|
|
|
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys)
|
rs1645691095
|
|
NM_000302.4(PLOD1):c.360C>G (p.Ala120=)
|
|
|
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
|
|
|
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter)
|
rs1645691337
|
|
NM_000302.4(PLOD1):c.369G>C (p.Gln123His)
|
rs1645691361
|
|
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile)
|
rs984869224
|
|
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu)
|
rs144702307
|
|
NM_000302.4(PLOD1):c.384T>G (p.Ala128=)
|
|
|
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
|
|
|
NM_000302.4(PLOD1):c.396C>T (p.Ile132=)
|
rs999062403
|
|
NM_000302.4(PLOD1):c.402del (p.Asp135fs)
|
rs886043926
|
|
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs)
|
rs745409628
|
|
NM_000302.4(PLOD1):c.417G>A (p.Glu139=)
|
|
|
NM_000302.4(PLOD1):c.423G>A (p.Lys141=)
|
|
|
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
|
|
|
NM_000302.4(PLOD1):c.429G>A (p.Pro143=)
|
|
|
NM_000302.4(PLOD1):c.429G>T (p.Pro143=)
|
|
|
NM_000302.4(PLOD1):c.466+10C>G
|
|
|
NM_000302.4(PLOD1):c.466+13G>T
|
|
|
NM_000302.4(PLOD1):c.466+20G>A
|
|
|
NM_000302.4(PLOD1):c.466+65C>A
|
|
|
NM_000302.4(PLOD1):c.466+7G>A
|
|
|
NM_000302.4(PLOD1):c.467-12A>G
|
|
|
NM_000302.4(PLOD1):c.467-13_467-6del
|
|
|
NM_000302.4(PLOD1):c.467-14C>T
|
|
|
NM_000302.4(PLOD1):c.467-19C>T
|
|
|
NM_000302.4(PLOD1):c.467-20C>T
|
rs1645710680
|
|
NM_000302.4(PLOD1):c.467-2A>G
|
|
|
NM_000302.4(PLOD1):c.467-6C>A
|
|
|
NM_000302.4(PLOD1):c.467-8A>C
|
|
|
NM_000302.4(PLOD1):c.474C>A (p.Ile158=)
|
|
|
NM_000302.4(PLOD1):c.474C>T (p.Ile158=)
|
|
|
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
|
|
|
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
|
|
|
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr)
|
rs1553134244
|
|
NM_000302.4(PLOD1):c.486C>A (p.Pro162=)
|
|
|
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
|
|
|
NM_000302.4(PLOD1):c.48C>T (p.Ala16=)
|
|
|
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)
|
rs1402614845
|
|
NM_000302.4(PLOD1):c.507C>T (p.Ala169=)
|
|
|
NM_000302.4(PLOD1):c.510G>A (p.Glu170=)
|
|
|
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
|
|
|
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly)
|
rs1569694008
|
|
NM_000302.4(PLOD1):c.528C>T (p.Ser176=)
|
|
|
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg)
|
rs113384442
|
|
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.535G>C (p.Asp179His)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
|
|
|
NM_000302.4(PLOD1):c.541C>T (p.Leu181=)
|
|
|
NM_000302.4(PLOD1):c.543G>C (p.Leu181=)
|
|
|
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg)
|
rs2100746537
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val)
|
rs886045201
|
|
NM_000302.4(PLOD1):c.558C>T (p.Ile186=)
|
|
|
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp)
|
rs1645711960
|
|
NM_000302.4(PLOD1):c.567C>T (p.Asp189=)
|
|
|
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del)
|
rs775053632
|
|
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg)
|
rs375416784
|
|
NM_000302.4(PLOD1):c.576G>A (p.Lys192=)
|
rs1645712079
|
|
NM_000302.4(PLOD1):c.577A>C (p.Arg193=)
|
rs569590633
|
|
NM_000302.4(PLOD1):c.579+12T>C
|
|
|
NM_000302.4(PLOD1):c.579+1G>A
|
rs797044448
|
|
NM_000302.4(PLOD1):c.579+3A>C
|
rs1645712158
|
|
NM_000302.4(PLOD1):c.579+8G>A
|
|
|
NM_000302.4(PLOD1):c.579+8G>T
|
|
|
NM_000302.4(PLOD1):c.579G>A (p.Arg193=)
|
rs1553134266
|
|
NM_000302.4(PLOD1):c.580-10T>C
|
rs1645726829
|
|
NM_000302.4(PLOD1):c.580-11C>G
|
|
|
NM_000302.4(PLOD1):c.580-12T>A
|
|
|
NM_000302.4(PLOD1):c.580-13T>G
|
|
|
NM_000302.4(PLOD1):c.580-16A>G
|
|
|
NM_000302.4(PLOD1):c.580-19G>A
|
|
|
NM_000302.4(PLOD1):c.580-20T>G
|
|
|
NM_000302.4(PLOD1):c.580-2A>G
|
|
|
NM_000302.4(PLOD1):c.580-4G>T
|
|
|
NM_000302.4(PLOD1):c.580-7C>T
|
|
|
NM_000302.4(PLOD1):c.582G>A (p.Glu194=)
|
|
|
NM_000302.4(PLOD1):c.598C>T (p.Leu200=)
|
|
|
NM_000302.4(PLOD1):c.603C>T (p.Asp201=)
|
|
|
NM_000302.4(PLOD1):c.609C>G (p.Arg203=)
|
|
|
NM_000302.4(PLOD1):c.60C>T (p.Gly20=)
|
|
|
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
|
|
|
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)
|
rs199990859
|
|
NM_000302.4(PLOD1):c.618C>A (p.Ile206=)
|
|
|
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter)
|
rs1557490038
|
|
NM_000302.4(PLOD1):c.624G>A (p.Gln208=)
|
|
|
NM_000302.4(PLOD1):c.627C>T (p.Asn209=)
|
rs2100748753
|
|
NM_000302.4(PLOD1):c.628C>T (p.Leu210=)
|
|
|
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
|
|
|
NM_000302.4(PLOD1):c.639C>T (p.Ala213=)
|
|
|
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)
|
rs1645566854
|
|
NM_000302.4(PLOD1):c.643+10C>T
|
|
|
NM_000302.4(PLOD1):c.643+12C>T
|
|
|
NM_000302.4(PLOD1):c.643+13C>G
|
|
|
NM_000302.4(PLOD1):c.643+16G>C
|
|
|
NM_000302.4(PLOD1):c.643+19G>A
|
|
|
NM_000302.4(PLOD1):c.643+20A>T
|
|
|
NM_000302.4(PLOD1):c.644-15C>T
|
|
|
NM_000302.4(PLOD1):c.644-17_644-16del
|
rs755109500
|
|
NM_000302.4(PLOD1):c.644-18G>A
|
|
|
NM_000302.4(PLOD1):c.644-19T>C
|
|
|
NM_000302.4(PLOD1):c.644-2A>G
|
|
|
NM_000302.4(PLOD1):c.648G>A (p.Glu216=)
|
rs150852515
|
|
NM_000302.4(PLOD1):c.651C>G (p.Val217=)
|
|
|
NM_000302.4(PLOD1):c.652G>A (p.Val218Met)
|
rs372534520
|
|
NM_000302.4(PLOD1):c.654G>A (p.Val218=)
|
|
|
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro)
|
rs1392799816
|
|
NM_000302.4(PLOD1):c.674A>G (p.His225Arg)
|
rs1176136454
|
|
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
|
rs566018612
|
|
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn)
|
rs1645742510
|
|
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
|
|
|
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
|
|
|
NM_000302.4(PLOD1):c.711G>A (p.Pro237=)
|
|
|
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu)
|
rs1438879558
|
|
NM_000302.4(PLOD1):c.720C>T (p.Ile240=)
|
rs770749842
|
|
NM_000302.4(PLOD1):c.723T>C (p.His241=)
|
rs2100750549
|
|
NM_000302.4(PLOD1):c.723T>G (p.His241Gln)
|
rs2100750549
|
|
NM_000302.4(PLOD1):c.726C>T (p.Gly242=)
|
|
|
NM_000302.4(PLOD1):c.729C>T (p.Asn243=)
|
|
|
NM_000302.4(PLOD1):c.72G>A (p.Pro24=)
|
rs1645566983
|
|
NM_000302.4(PLOD1):c.72G>T (p.Pro24=)
|
|
|
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
|
|
|
NM_000302.4(PLOD1):c.741+11C>T
|
|
|
NM_000302.4(PLOD1):c.741+12C>T
|
|
|
NM_000302.4(PLOD1):c.741+13C>G
|
|
|
NM_000302.4(PLOD1):c.741+13C>T
|
rs2100750594
|
|
NM_000302.4(PLOD1):c.741+16C>T
|
|
|
NM_000302.4(PLOD1):c.741+19C>G
|
|
|
NM_000302.4(PLOD1):c.741+8G>T
|
|
|
NM_000302.4(PLOD1):c.742-13G>A
|
|
|
NM_000302.4(PLOD1):c.742-14C>A
|
|
|
NM_000302.4(PLOD1):c.742-14C>T
|
|
|
NM_000302.4(PLOD1):c.742-9C>A
|
|
|
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
|
|
|
NM_000302.4(PLOD1):c.744G>A (p.Leu248=)
|
|
|
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala)
|
rs774044489
|
|
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
|
|
|
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val)
|
rs2100751390
|
|
NM_000302.4(PLOD1):c.759G>A (p.Leu253=)
|
|
|
NM_000302.4(PLOD1):c.759G>C (p.Leu253=)
|
rs762271097
|
|
NM_000302.4(PLOD1):c.76+10C>T
|
rs2100729726
|
|
NM_000302.4(PLOD1):c.76+11G>A
|
|
|
NM_000302.4(PLOD1):c.76+13A>C
|
|
|
NM_000302.4(PLOD1):c.76+14G>A
|
|
|
NM_000302.4(PLOD1):c.76+15G>T
|
|
|
NM_000302.4(PLOD1):c.76+19G>A
|
|
|
NM_000302.4(PLOD1):c.76+20G>A
|
|
|
NM_000302.4(PLOD1):c.76+22del
|
|
|
NM_000302.4(PLOD1):c.77-13C>A
|
|
|
NM_000302.4(PLOD1):c.77-13C>T
|
|
|
NM_000302.4(PLOD1):c.77-16C>T
|
|
|
NM_000302.4(PLOD1):c.77-17C>A
|
|
|
NM_000302.4(PLOD1):c.77-17C>T
|
rs748925361
|
|
NM_000302.4(PLOD1):c.77-18A>G
|
|
|
NM_000302.4(PLOD1):c.77-19T>C
|
|
|
NM_000302.4(PLOD1):c.77-20A>C
|
|
|
NM_000302.4(PLOD1):c.77-20A>G
|
|
|
NM_000302.4(PLOD1):c.77-3320G>C
|
rs2100738654
|
|
NM_000302.4(PLOD1):c.77-3339C>T
|
|
|
NM_000302.4(PLOD1):c.77-3351T>C
|
rs1397591568
|
|
NM_000302.4(PLOD1):c.77-3403T>C
|
rs1645637106
|
|
NM_000302.4(PLOD1):c.77-6C>G
|
|
|
NM_000302.4(PLOD1):c.771C>T (p.Ile257=)
|
|
|
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)
|
rs1181531160
|
|
NM_000302.4(PLOD1):c.777C>T (p.Arg259=)
|
rs1473839953
|
|
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn)
|
rs2100751465
|
|
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser)
|
rs2100741705
|
|
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys)
|
rs1267512667
|
|
NM_000302.4(PLOD1):c.825C>T (p.Arg275=)
|
|
|
NM_000302.4(PLOD1):c.828C>T (p.Ser276=)
|
|
|
NM_000302.4(PLOD1):c.843+11G>A
|
|
|
NM_000302.4(PLOD1):c.843+14C>T
|
|
|
NM_000302.4(PLOD1):c.843+15A>G
|
|
|
NM_000302.4(PLOD1):c.844-10C>T
|
rs2100752088
|
|
NM_000302.4(PLOD1):c.844-12T>C
|
|
|
NM_000302.4(PLOD1):c.844-13C>T
|
|
|
NM_000302.4(PLOD1):c.844-14C>T
|
|
|
NM_000302.4(PLOD1):c.844-15C>T
|
|
|
NM_000302.4(PLOD1):c.844-16G>T
|
|
|
NM_000302.4(PLOD1):c.844-17C>T
|
|
|
NM_000302.4(PLOD1):c.844-3C>G
|
rs2100752095
|
|
NM_000302.4(PLOD1):c.844-6G>C
|
|
|
NM_000302.4(PLOD1):c.844-9C>T
|
|
|
NM_000302.4(PLOD1):c.855G>A (p.Leu285=)
|
|
|
NM_000302.4(PLOD1):c.858C>T (p.Pro286=)
|
|
|
NM_000302.4(PLOD1):c.861G>T (p.Thr287=)
|
|
|
NM_000302.4(PLOD1):c.864C>T (p.Val288=)
|
|
|
NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)
|
|
|
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp)
|
rs1394486748
|
|
NM_000302.4(PLOD1):c.873C>A (p.Gly291=)
|
|
|
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu)
|
rs143114026
|
|
NM_000302.4(PLOD1):c.876G>A (p.Val292=)
|
|
|
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala)
|
rs777178486
|
|
NM_000302.4(PLOD1):c.907C>T (p.Leu303=)
|
|
|
NM_000302.4(PLOD1):c.90C>T (p.Val30=)
|
|
|
NM_000302.4(PLOD1):c.921G>A (p.Arg307=)
|
rs754534604
|
|
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe)
|
rs1438781151
|
|
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu)
|
rs1645756307
|
|
NM_000302.4(PLOD1):c.942C>G (p.Pro314=)
|
|
|
NM_000302.4(PLOD1):c.949C>A (p.His317Asn)
|
rs1287367993
|
|
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
|
|
|
NM_000302.4(PLOD1):c.951C>G (p.His317Gln)
|
rs770032875
|
|
NM_000302.4(PLOD1):c.955C>A (p.Arg319=)
|
|
|
NM_000302.4(PLOD1):c.963C>T (p.Phe321=)
|
rs2100752293
|
|
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn)
|
rs1553135172
|
|
NM_000302.4(PLOD1):c.96G>A (p.Thr32=)
|
|
|
NM_000302.4(PLOD1):c.975+2_975+3insTT
|
|
|
NM_000302.4(PLOD1):c.976-14A>G
|
|
|
NM_000302.4(PLOD1):c.976-15C>A
|
|
|
NM_000302.4(PLOD1):c.976-17C>T
|
|
|
NM_000302.4(PLOD1):c.976-18C>T
|
|
|
NM_000302.4(PLOD1):c.976-2A>G
|
|
|
NM_000302.4(PLOD1):c.976-2A>T
|
rs1375808651
|
|
NM_000302.4(PLOD1):c.976-3C>T
|
rs1198690797
|
|
NM_000302.4(PLOD1):c.976-6C>A
|
rs200825919
|
|
NM_000302.4(PLOD1):c.976-7_976-2dup
|
|
|
NM_000302.4(PLOD1):c.999G>A (p.Val333=)
|
|
|
NM_000302.4(PLOD1):c.9C>T (p.Pro3=)
|
|
|