NM_182943.3(PLOD2):c.339-289C>T
|
rs7626859
|
0.98977
|
NM_182943.3(PLOD2):c.1563+230C>G
|
rs9836725
|
0.77951
|
NM_182943.3(PLOD2):c.338+4G>A
|
rs4681297
|
0.77857
|
NM_182943.3(PLOD2):c.778-323T>G
|
rs3792340
|
0.77853
|
NM_182943.3(PLOD2):c.615+281A>G
|
rs9289714
|
0.52029
|
NM_182943.3(PLOD2):c.1678-149G>A
|
rs7617913
|
0.51833
|
NM_182943.3(PLOD2):c.1563+90T>C
|
rs9874388
|
0.51832
|
NM_182943.3(PLOD2):c.1358+170C>T
|
rs3828381
|
0.51831
|
NM_182943.3(PLOD2):c.1848+302G>A
|
rs3804670
|
0.51786
|
NM_182943.3(PLOD2):c.*37A>G
|
rs6710
|
0.51778
|
NM_182943.3(PLOD2):c.1743+126T>C
|
rs7639592
|
0.51775
|
NM_182943.3(PLOD2):c.201+71A>G
|
rs6802384
|
0.51746
|
NM_182943.3(PLOD2):c.778-62A>G
|
rs3792341
|
0.51732
|
NM_182943.3(PLOD2):c.1128-82A>T
|
rs1375582
|
0.51670
|
NM_182943.3(PLOD2):c.1848+284_1848+285del
|
rs3840209
|
0.51630
|
NM_182943.3(PLOD2):c.1127+50G>T
|
rs3804668
|
0.51268
|
NM_182943.3(PLOD2):c.1128-78A>G
|
rs1375583
|
0.50944
|
NM_182943.3(PLOD2):c.2121+26A>G
|
rs2305274
|
0.50798
|
NM_182943.3(PLOD2):c.1127+159G>A
|
rs3804669
|
0.50508
|
NM_182943.3(PLOD2):c.339-261C>A
|
rs3804660
|
0.50498
|
NM_182943.3(PLOD2):c.502+133C>G
|
rs3804661
|
0.50486
|
NM_182943.3(PLOD2):c.615+206A>G
|
rs9289715
|
0.50471
|
NM_182943.3(PLOD2):c.503-73C>T
|
rs7614409
|
0.49478
|
NM_182943.3(PLOD2):c.680-45C>T
|
rs3762691
|
0.47733
|
NM_182943.3(PLOD2):c.1743+271C>A
|
rs1449444
|
0.47732
|
NM_182943.3(PLOD2):c.503-47T>C
|
rs9289716
|
0.47727
|
NM_182943.3(PLOD2):c.338+326C>T
|
rs12171294
|
0.40527
|
NM_182943.3(PLOD2):c.339-22dup
|
rs3842573
|
0.40215
|
NM_182943.3(PLOD2):c.615+294A>G
|
rs9289713
|
0.40200
|
NM_182943.3(PLOD2):c.1500+12A>G
|
rs73010484
|
0.23989
|
NM_182943.3(PLOD2):c.1744-67A>T
|
rs3762694
|
0.18070
|
NM_182943.3(PLOD2):c.1128-203C>T
|
rs67671074
|
0.14682
|
NM_182943.3(PLOD2):c.1233-270C>T
|
rs1449442
|
0.13188
|
NM_182943.3(PLOD2):c.880-129C>A
|
rs16857900
|
0.10103
|
NM_182943.3(PLOD2):c.*847C>T
|
rs3792347
|
0.09680
|
NM_182943.3(PLOD2):c.109+39G>A
|
rs116299517
|
0.09123
|
NM_182943.3(PLOD2):c.110-170A>G
|
rs3762690
|
0.08652
|
NM_182943.3(PLOD2):c.1677+227C>T
|
rs116269286
|
0.03300
|
NM_182943.3(PLOD2):c.680-62G>A
|
rs71300377
|
0.02720
|
NM_182943.3(PLOD2):c.*171T>G
|
rs13079521
|
0.02719
|
NM_182943.3(PLOD2):c.1563+63A>C
|
rs34589717
|
0.02716
|
NM_182943.3(PLOD2):c.1128-72T>C
|
rs13095139
|
0.02712
|
NM_182943.3(PLOD2):c.615+277C>T
|
rs78696908
|
0.02535
|
NM_182943.3(PLOD2):c.109+315C>T
|
rs73865331
|
0.02250
|
NM_000935.2(PLOD2):c.-412C>T
|
rs79723478
|
0.02050
|
NM_182943.3(PLOD2):c.1848+56T>C
|
rs112122519
|
0.01546
|
NM_182943.3(PLOD2):c.880-177G>A
|
rs79731165
|
0.01524
|
NM_182943.3(PLOD2):c.1127+239G>A
|
rs79024662
|
0.01521
|
NM_182943.3(PLOD2):c.680-67C>T
|
rs113500470
|
0.01521
|
NM_182943.3(PLOD2):c.109+307C>T
|
rs114645517
|
0.01072
|
NM_000935.2(PLOD2):c.-212C>T
|
rs564744346
|
0.01058
|
NM_182943.3(PLOD2):c.880-302A>C
|
rs141559084
|
0.00847
|
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser)
|
rs116803293
|
0.00701
|
NM_182943.3(PLOD2):c.1128-78_1128-77insT
|
rs536415937
|
0.00677
|
NM_182943.3(PLOD2):c.1128-145C>T
|
rs150167832
|
0.00644
|
NM_182943.3(PLOD2):c.1358+73A>G
|
rs114112088
|
0.00585
|
NM_182943.3(PLOD2):c.109+42C>T
|
rs145580714
|
0.00558
|
NM_182943.3(PLOD2):c.1743+224C>A
|
rs147506063
|
0.00538
|
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu)
|
rs150981193
|
0.00532
|
NM_182943.3(PLOD2):c.*32T>C
|
rs148862685
|
0.00531
|
NM_182943.3(PLOD2):c.1359-163A>G
|
rs144400529
|
0.00531
|
NM_182943.3(PLOD2):c.1677+206G>A
|
rs115390352
|
0.00495
|
NM_182943.3(PLOD2):c.1128-79G>A
|
rs57931335
|
0.00493
|
NM_182943.3(PLOD2):c.-104G>T
|
rs573663835
|
0.00486
|
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=)
|
rs78976445
|
0.00458
|
NM_182943.3(PLOD2):c.201+197T>C
|
rs185300274
|
0.00452
|
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=)
|
rs141850775
|
0.00428
|
NM_182943.3(PLOD2):c.616-146T>C
|
rs184053032
|
0.00428
|
NM_182943.3(PLOD2):c.1232+124A>G
|
rs183548536
|
0.00427
|
NC_000003.12:g.146161760T>C
|
rs183977350
|
0.00367
|
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)
|
rs145809663
|
0.00344
|
NM_182943.3(PLOD2):c.679+171T>C
|
rs146584046
|
0.00319
|
NM_182943.3(PLOD2):c.2106G>C (p.Val702=)
|
rs147997412
|
0.00288
|
NM_182943.3(PLOD2):c.1644C>T (p.Asn548=)
|
rs150609339
|
0.00238
|
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)
|
rs115199093
|
0.00175
|
NM_182943.3(PLOD2):c.-4G>A
|
rs79161810
|
0.00173
|
NM_182943.3(PLOD2):c.-170C>G
|
rs527384365
|
0.00129
|
NM_182943.3(PLOD2):c.1126A>C (p.Met376Leu)
|
rs140613062
|
0.00106
|
NM_182943.3(PLOD2):c.1108G>A (p.Glu370Lys)
|
rs147402171
|
0.00104
|
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile)
|
rs148118826
|
0.00096
|
NM_182943.3(PLOD2):c.1995+19C>G
|
rs183644336
|
0.00081
|
NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg)
|
rs138948307
|
0.00064
|
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile)
|
rs147665692
|
0.00061
|
NM_182943.3(PLOD2):c.533G>A (p.Arg178His)
|
rs143513488
|
0.00036
|
NM_182943.3(PLOD2):c.2121+14T>C
|
rs376009508
|
0.00034
|
NM_182943.3(PLOD2):c.1232+5T>A
|
rs372708761
|
0.00031
|
NM_182943.3(PLOD2):c.1744-11A>G
|
rs376704588
|
0.00030
|
NM_182943.3(PLOD2):c.1232+16C>A
|
rs201887294
|
0.00029
|
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)
|
rs142909885
|
0.00028
|
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)
|
rs140079753
|
0.00025
|
NM_182943.3(PLOD2):c.627C>T (p.Asn209=)
|
rs1176368109
|
0.00016
|
NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile)
|
rs202241126
|
0.00014
|
NM_182943.3(PLOD2):c.1564-16A>G
|
rs375572526
|
0.00013
|
NM_182943.3(PLOD2):c.861C>T (p.Val287=)
|
rs573318217
|
0.00011
|
NM_182943.3(PLOD2):c.1120A>G (p.Met374Val)
|
rs144365999
|
0.00009
|
NM_182943.3(PLOD2):c.1617T>C (p.Thr539=)
|
rs144881583
|
0.00009
|
NM_182943.3(PLOD2):c.679+18C>T
|
rs374675972
|
0.00008
|
NM_182943.3(PLOD2):c.1259G>A (p.Arg420His)
|
rs746480869
|
0.00007
|
NM_182943.3(PLOD2):c.852C>G (p.Phe284Leu)
|
rs145189838
|
0.00007
|
NM_182943.3(PLOD2):c.1457A>G (p.Lys486Arg)
|
rs760876151
|
0.00006
|
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val)
|
rs558336915
|
0.00006
|
NM_182943.3(PLOD2):c.1798T>C (p.Leu600=)
|
rs772058882
|
0.00006
|
NM_182943.3(PLOD2):c.1232+17G>A
|
rs779694346
|
0.00005
|
NM_182943.3(PLOD2):c.853G>A (p.Asp285Asn)
|
rs141419117
|
0.00005
|
NM_182943.3(PLOD2):c.1042G>T (p.Asp348Tyr)
|
rs749867902
|
0.00004
|
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)
|
rs893004444
|
0.00004
|
NM_182943.3(PLOD2):c.1564-4A>G
|
rs375780156
|
0.00004
|
NM_182943.3(PLOD2):c.1943G>A (p.Arg648Gln)
|
rs748652746
|
0.00004
|
NM_182943.3(PLOD2):c.2158A>G (p.Ile720Val)
|
rs377413994
|
0.00004
|
NM_182943.3(PLOD2):c.335A>G (p.Glu112Gly)
|
rs759343908
|
0.00004
|
NM_182943.3(PLOD2):c.1006-20A>G
|
rs372925683
|
0.00003
|
NM_182943.3(PLOD2):c.1478T>A (p.Leu493His)
|
rs780359513
|
0.00003
|
NM_182943.3(PLOD2):c.230G>A (p.Gly77Asp)
|
rs550639807
|
0.00003
|
NM_182943.3(PLOD2):c.251T>G (p.Ile84Ser)
|
rs369085322
|
0.00003
|
NM_182943.3(PLOD2):c.255A>G (p.Gly85=)
|
rs748762866
|
0.00003
|
NM_182943.3(PLOD2):c.616-13T>A
|
rs149019740
|
0.00003
|
NM_182943.3(PLOD2):c.754A>G (p.Ile252Val)
|
rs769491366
|
0.00003
|
NM_182943.3(PLOD2):c.89A>C (p.Lys30Thr)
|
rs750997809
|
0.00003
|
NM_182943.3(PLOD2):c.1744C>G (p.Pro582Ala)
|
rs374567883
|
0.00002
|
NM_182943.3(PLOD2):c.1996-8T>A
|
rs758749377
|
0.00002
|
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)
|
rs555534138
|
0.00002
|
NM_182943.3(PLOD2):c.778-20C>A
|
rs368014482
|
0.00002
|
NM_182943.3(PLOD2):c.786G>A (p.Leu262=)
|
rs1002992721
|
0.00002
|
NM_182943.3(PLOD2):c.812A>G (p.Asn271Ser)
|
rs912490534
|
0.00002
|
NM_182943.3(PLOD2):c.109+11C>A
|
rs372460334
|
0.00001
|
NM_182943.3(PLOD2):c.1105G>A (p.Ala369Thr)
|
rs1273830117
|
0.00001
|
NM_182943.3(PLOD2):c.1107G>A (p.Ala369=)
|
rs376629236
|
0.00001
|
NM_182943.3(PLOD2):c.1165T>C (p.Phe389Leu)
|
rs1034575012
|
0.00001
|
NM_182943.3(PLOD2):c.1189T>C (p.Leu397=)
|
rs1239742490
|
0.00001
|
NM_182943.3(PLOD2):c.1230C>G (p.Asn410Lys)
|
rs769818869
|
0.00001
|
NM_182943.3(PLOD2):c.1233-18C>T
|
rs371963945
|
0.00001
|
NM_182943.3(PLOD2):c.1244C>T (p.Ala415Val)
|
rs1323985527
|
0.00001
|
NM_182943.3(PLOD2):c.1319G>A (p.Arg440Gln)
|
rs867445059
|
0.00001
|
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)
|
rs778360818
|
0.00001
|
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter)
|
rs750664256
|
0.00001
|
NM_182943.3(PLOD2):c.1450C>T (p.Arg484Cys)
|
rs774012315
|
0.00001
|
NM_182943.3(PLOD2):c.1483C>T (p.Arg495Ter)
|
rs1436930576
|
0.00001
|
NM_182943.3(PLOD2):c.1532C>T (p.Pro511Leu)
|
rs149042182
|
0.00001
|
NM_182943.3(PLOD2):c.1563+16dup
|
rs1175259791
|
0.00001
|
NM_182943.3(PLOD2):c.1855C>T (p.Arg619Cys)
|
rs759871520
|
0.00001
|
NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp)
|
rs368177696
|
0.00001
|
NM_182943.3(PLOD2):c.196G>A (p.Val66Met)
|
rs564416321
|
0.00001
|
NM_182943.3(PLOD2):c.1982G>A (p.Gly661Asp)
|
rs765108706
|
0.00001
|
NM_182943.3(PLOD2):c.202-18T>C
|
rs1380080171
|
0.00001
|
NM_182943.3(PLOD2):c.2054G>A (p.Arg685His)
|
rs144675042
|
0.00001
|
NM_182943.3(PLOD2):c.2121+9G>C
|
rs370059614
|
0.00001
|
NM_182943.3(PLOD2):c.23C>T (p.Pro8Leu)
|
rs2032549755
|
0.00001
|
NM_182943.3(PLOD2):c.291G>A (p.Met97Ile)
|
rs202016606
|
0.00001
|
NM_182943.3(PLOD2):c.532C>T (p.Arg178Cys)
|
rs557891596
|
0.00001
|
NM_182943.3(PLOD2):c.679+14A>G
|
rs1241130568
|
0.00001
|
NM_182943.3(PLOD2):c.800A>G (p.Asn267Ser)
|
rs1434129659
|
0.00001
|
NM_182943.3(PLOD2):c.804T>C (p.Tyr268=)
|
rs547685298
|
0.00001
|
NM_182943.3(PLOD2):c.815C>T (p.Ser272Leu)
|
rs752075592
|
0.00001
|
NM_182943.3(PLOD2):c.892G>A (p.Val298Ile)
|
rs947167279
|
0.00001
|
GRCh37/hg19 3q24(chr3:143757050-145815734)x3
|
|
|
GRCh37/hg19 3q24(chr3:145738142-145863739)x1
|
|
|
NC_000003.11:g.(?_145788504)_(145878776_?)dup
|
|
|
NM_182943.3(PLOD2):c.1005+10T>C
|
|
|
NM_182943.3(PLOD2):c.1005+88T>C
|
rs187728894
|
|
NM_182943.3(PLOD2):c.1006-14A>G
|
|
|
NM_182943.3(PLOD2):c.1006-6T>G
|
|
|
NM_182943.3(PLOD2):c.1017T>C (p.His339=)
|
|
|
NM_182943.3(PLOD2):c.1025A>G (p.Asp342Gly)
|
rs2108020712
|
|
NM_182943.3(PLOD2):c.1036T>G (p.Phe346Val)
|
rs1559840306
|
|
NM_182943.3(PLOD2):c.1045A>G (p.Lys349Glu)
|
rs368727638
|
|
NM_182943.3(PLOD2):c.1069A>G (p.Ile357Val)
|
|
|
NM_182943.3(PLOD2):c.1089A>G (p.Glu363=)
|
|
|
NM_182943.3(PLOD2):c.109+47G>A
|
rs76718163
|
|
NM_182943.3(PLOD2):c.109+47G>C
|
rs76718163
|
|
NM_182943.3(PLOD2):c.109+77C>T
|
rs34803917
|
|
NM_182943.3(PLOD2):c.1127+10A>G
|
|
|
NM_182943.3(PLOD2):c.1127+12T>C
|
|
|
NM_182943.3(PLOD2):c.1127+2T>C
|
rs1057524251
|
|
NM_182943.3(PLOD2):c.1127T>A (p.Met376Lys)
|
rs1346310334
|
|
NM_182943.3(PLOD2):c.1128-13T>C
|
|
|
NM_182943.3(PLOD2):c.1139G>A (p.Arg380His)
|
|
|
NM_182943.3(PLOD2):c.1156G>A (p.Asp386Asn)
|
|
|
NM_182943.3(PLOD2):c.1179A>C (p.Ala393=)
|
|
|
NM_182943.3(PLOD2):c.1220T>A (p.Ile407Asn)
|
|
|
NM_182943.3(PLOD2):c.1232+83_1232+86del
|
rs60626732
|
|
NM_182943.3(PLOD2):c.1233-10C>T
|
|
|
NM_182943.3(PLOD2):c.1233-19A>G
|
rs1026182365
|
|
NM_182943.3(PLOD2):c.1233-23AC[3]
|
|
|
NM_182943.3(PLOD2):c.1233-23AC[5]
|
rs750242044
|
|
NM_182943.3(PLOD2):c.124A>G (p.Ile42Val)
|
|
|
NM_182943.3(PLOD2):c.1262A>T (p.His421Leu)
|
|
|
NM_182943.3(PLOD2):c.1271T>A (p.Leu424Gln)
|
rs138985871
|
|
NM_182943.3(PLOD2):c.1275G>A (p.Trp425Ter)
|
rs2108010991
|
|
NM_182943.3(PLOD2):c.1287G>A (p.Trp429Ter)
|
rs2108010958
|
|
NM_182943.3(PLOD2):c.1291G>T (p.Ala431Ser)
|
|
|
NM_182943.3(PLOD2):c.1293A>G (p.Ala431=)
|
|
|
NM_182943.3(PLOD2):c.1318C>T (p.Arg440Ter)
|
|
|
NM_182943.3(PLOD2):c.1345del (p.Gln449fs)
|
|
|
NM_182943.3(PLOD2):c.1348G>A (p.Gly450Arg)
|
rs2108010830
|
|
NM_182943.3(PLOD2):c.1358+20A>G
|
|
|
NM_182943.3(PLOD2):c.1358+9C>T
|
|
|
NM_182943.3(PLOD2):c.1359-15T>G
|
|
|
NM_182943.3(PLOD2):c.1359-17C>G
|
|
|
NM_182943.3(PLOD2):c.1359-5T>A
|
rs375301396
|
|
NM_182943.3(PLOD2):c.1359-7C>T
|
|
|
NM_182943.3(PLOD2):c.1426A>T (p.Met476Leu)
|
|
|
NM_182943.3(PLOD2):c.1437G>T (p.Arg479Ser)
|
|
|
NM_182943.3(PLOD2):c.143A>G (p.Glu48Gly)
|
|
|
NM_182943.3(PLOD2):c.1458A>G (p.Lys486=)
|
|
|
NM_182943.3(PLOD2):c.1459C>T (p.Leu487=)
|
|
|
NM_182943.3(PLOD2):c.1468G>T (p.Asp490Tyr)
|
|
|
NM_182943.3(PLOD2):c.1484G>A (p.Arg495Gln)
|
|
|
NM_182943.3(PLOD2):c.1500+16A>G
|
|
|
NM_182943.3(PLOD2):c.1500+1G>T
|
rs1936442200
|
|
NM_182943.3(PLOD2):c.1500+8A>G
|
|
|
NM_182943.3(PLOD2):c.1500+9T>C
|
|
|
NM_182943.3(PLOD2):c.1501-6T>C
|
|
|
NM_182943.3(PLOD2):c.1512G>A (p.Arg504=)
|
|
|
NM_182943.3(PLOD2):c.1533G>A (p.Pro511=)
|
|
|
NM_182943.3(PLOD2):c.1538C>T (p.Thr513Ile)
|
rs1394827519
|
|
NM_182943.3(PLOD2):c.1558C>A (p.Pro520Thr)
|
|
|
NM_182943.3(PLOD2):c.1559dup (p.Val523fs)
|
rs749709000
|
|
NM_182943.3(PLOD2):c.1563+17T>C
|
rs1452403687
|
|
NM_182943.3(PLOD2):c.1563+19T>C
|
|
|
NM_182943.3(PLOD2):c.1563+3G>C
|
|
|
NM_182943.3(PLOD2):c.1564-6A>G
|
|
|
NM_182943.3(PLOD2):c.1564-98_1564-95del
|
rs35274473
|
|
NM_182943.3(PLOD2):c.1565G>C (p.Gly522Ala)
|
rs775017069
|
|
NM_182943.3(PLOD2):c.1567G>A (p.Val523Ile)
|
|
|
NM_182943.3(PLOD2):c.1582T>C (p.Ser528Pro)
|
|
|
NM_182943.3(PLOD2):c.1635C>G (p.Ser545=)
|
|
|
NM_182943.3(PLOD2):c.1653C>A (p.Leu551=)
|
|
|
NM_182943.3(PLOD2):c.1670A>G (p.Asn557Ser)
|
|
|
NM_182943.3(PLOD2):c.1677+20C>T
|
|
|
NM_182943.3(PLOD2):c.1677+243_1677+244insTAAATTAGTTTAGC
|
rs6148118
|
|
NM_182943.3(PLOD2):c.1678-16G>A
|
|
|
NM_182943.3(PLOD2):c.1678-17T>C
|
rs2107995123
|
|
NM_182943.3(PLOD2):c.1678-4A>G
|
|
|
NM_182943.3(PLOD2):c.1678-86G>A
|
rs145658936
|
|
NM_182943.3(PLOD2):c.1689A>C (p.Glu563Asp)
|
|
|
NM_182943.3(PLOD2):c.1703G>A (p.Arg568His)
|
|
|
NM_182943.3(PLOD2):c.1712del (p.Tyr570_Ser571insTer)
|
|
|
NM_182943.3(PLOD2):c.1743+14A>C
|
|
|
NM_182943.3(PLOD2):c.1744-18A>G
|
|
|
NM_182943.3(PLOD2):c.1744-19G>A
|
|
|
NM_182943.3(PLOD2):c.1744-20C>T
|
|
|
NM_182943.3(PLOD2):c.1764G>T (p.Trp588Cys)
|
rs1936187674
|
|
NM_182943.3(PLOD2):c.1813G>A (p.Glu605Lys)
|
|
|
NM_182943.3(PLOD2):c.1823G>C (p.Gly608Ala)
|
|
|
NM_182943.3(PLOD2):c.1833T>C (p.Ser611=)
|
rs867911541
|
|
NM_182943.3(PLOD2):c.1834G>C (p.Gly612Arg)
|
|
|
NM_182943.3(PLOD2):c.1842A>T (p.Lys614Asn)
|
|
|
NM_182943.3(PLOD2):c.1848+12T>C
|
rs1254386697
|
|
NM_182943.3(PLOD2):c.1848+162del
|
rs202042741
|
|
NM_182943.3(PLOD2):c.1848T>C (p.His616=)
|
rs1002092343
|
|
NM_182943.3(PLOD2):c.1849-11G>A
|
|
|
NM_182943.3(PLOD2):c.1849-18C>T
|
|
|
NM_182943.3(PLOD2):c.1854C>T (p.Ser618=)
|
|
|
NM_182943.3(PLOD2):c.1855C>G (p.Arg619Gly)
|
|
|
NM_182943.3(PLOD2):c.1864G>T (p.Gly622Cys)
|
rs762788421
|
|
NM_182943.3(PLOD2):c.188A>G (p.Asn63Ser)
|
rs528029426
|
|
NM_182943.3(PLOD2):c.1893T>C (p.Asp631=)
|
rs1453077675
|
|
NM_182943.3(PLOD2):c.1899C>G (p.His633Gln)
|
|
|
NM_182943.3(PLOD2):c.1940T>C (p.Ile647Thr)
|
|
|
NM_182943.3(PLOD2):c.1949T>C (p.Phe650Ser)
|
rs1057524250
|
|
NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)
|
|
|
NM_182943.3(PLOD2):c.195T>C (p.Thr65=)
|
|
|
NM_182943.3(PLOD2):c.1967T>G (p.Leu656Arg)
|
|
|
NM_182943.3(PLOD2):c.1968G>A (p.Leu656=)
|
|
|
NM_182943.3(PLOD2):c.1996-18C>T
|
|
|
NM_182943.3(PLOD2):c.1996-19G>A
|
rs1205001480
|
|
NM_182943.3(PLOD2):c.1996-5T>G
|
|
|
NM_182943.3(PLOD2):c.1996-9C>A
|
|
|
NM_182943.3(PLOD2):c.201+18A>G
|
|
|
NM_182943.3(PLOD2):c.201+1G>T
|
|
|
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)
|
rs780770356
|
|
NM_182943.3(PLOD2):c.2039G>A (p.Arg680Gln)
|
|
|
NM_182943.3(PLOD2):c.203T>A (p.Val68Asp)
|
|
|
NM_182943.3(PLOD2):c.2060A>G (p.His687Arg)
|
rs1936109638
|
|
NM_182943.3(PLOD2):c.2094A>C (p.Ala698=)
|
|
|
NM_182943.3(PLOD2):c.2121+13C>T
|
|
|
NM_182943.3(PLOD2):c.2122-2A>G
|
|
|
NM_182943.3(PLOD2):c.2122-3del
|
|
|
NM_182943.3(PLOD2):c.2122-4_2122-3del
|
|
|
NM_182943.3(PLOD2):c.2127T>C (p.Gly709=)
|
|
|
NM_182943.3(PLOD2):c.2135A>G (p.Lys712Arg)
|
rs776917428
|
|
NM_182943.3(PLOD2):c.2136A>G (p.Lys712=)
|
|
|
NM_182943.3(PLOD2):c.2170C>A (p.Arg724=)
|
|
|
NM_182943.3(PLOD2):c.2222G>A (p.Gly741Glu)
|
|
|
NM_182943.3(PLOD2):c.2224C>G (p.Leu742Val)
|
|
|
NM_182943.3(PLOD2):c.2246G>T (p.Arg749Ile)
|
rs2107990046
|
|
NM_182943.3(PLOD2):c.2268A>G (p.Ile756Met)
|
|
|
NM_182943.3(PLOD2):c.244A>G (p.Asn82Asp)
|
rs1021969159
|
|
NM_182943.3(PLOD2):c.257G>A (p.Gly86Glu)
|
|
|
NM_182943.3(PLOD2):c.261C>A (p.Gly87=)
|
|
|
NM_182943.3(PLOD2):c.27G>A (p.Gln9=)
|
|
|
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)
|
rs764056697
|
|
NM_182943.3(PLOD2):c.306T>C (p.Asp102=)
|
|
|
NM_182943.3(PLOD2):c.325A>C (p.Met109Leu)
|
|
|
NM_182943.3(PLOD2):c.338+12A>G
|
|
|
NM_182943.3(PLOD2):c.338+15C>G
|
rs2108091256
|
|
NM_182943.3(PLOD2):c.339-181A>G
|
rs116303598
|
|
NM_182943.3(PLOD2):c.339-20A>G
|
|
|
NM_182943.3(PLOD2):c.36C>T (p.Leu12=)
|
|
|
NM_182943.3(PLOD2):c.49C>T (p.Leu17Phe)
|
|
|
NM_182943.3(PLOD2):c.4G>C (p.Gly2Arg)
|
rs767119307
|
|
NM_182943.3(PLOD2):c.503-7G>T
|
|
|
NM_182943.3(PLOD2):c.509T>A (p.Ile170Asn)
|
|
|
NM_182943.3(PLOD2):c.517G>C (p.Ala173Pro)
|
rs2108062094
|
|
NM_182943.3(PLOD2):c.530A>G (p.Asn177Ser)
|
|
|
NM_182943.3(PLOD2):c.534T>C (p.Arg178=)
|
|
|
NM_182943.3(PLOD2):c.565GAT[4] (p.Asp191_Gln192insAsp)
|
|
|
NM_182943.3(PLOD2):c.58T>G (p.Trp20Gly)
|
|
|
NM_182943.3(PLOD2):c.58del (p.Trp20fs)
|
|
|
NM_182943.3(PLOD2):c.603T>C (p.Asp201=)
|
|
|
NM_182943.3(PLOD2):c.616-13T>C
|
rs149019740
|
|
NM_182943.3(PLOD2):c.616-8T>C
|
|
|
NM_182943.3(PLOD2):c.679+19G>A
|
|
|
NM_182943.3(PLOD2):c.679+260T>C
|
rs6781300
|
|
NM_182943.3(PLOD2):c.684A>T (p.Glu228Asp)
|
rs937990206
|
|
NM_182943.3(PLOD2):c.6G>C (p.Gly2=)
|
rs1559879041
|
|
NM_182943.3(PLOD2):c.736G>C (p.Glu246Gln)
|
|
|
NM_182943.3(PLOD2):c.742T>C (p.Leu248=)
|
|
|
NM_182943.3(PLOD2):c.74G>T (p.Gly25Val)
|
|
|
NM_182943.3(PLOD2):c.764A>T (p.Asn255Ile)
|
|
|
NM_182943.3(PLOD2):c.777+9C>T
|
|
|
NM_182943.3(PLOD2):c.778-19C>T
|
|
|
NM_182943.3(PLOD2):c.778-20C>T
|
|
|
NM_182943.3(PLOD2):c.778-215dup
|
rs3838608
|
|
NM_182943.3(PLOD2):c.778-4C>T
|
|
|
NM_182943.3(PLOD2):c.797G>T (p.Gly266Val)
|
|
|
NM_182943.3(PLOD2):c.818G>A (p.Trp273Ter)
|
|
|
NM_182943.3(PLOD2):c.872C>T (p.Ala291Val)
|
|
|
NM_182943.3(PLOD2):c.877G>A (p.Asp293Asn)
|
|
|
NM_182943.3(PLOD2):c.879+258A>G
|
rs1982381
|
|
NM_182943.3(PLOD2):c.879T>C (p.Asp293=)
|
|
|
NM_182943.3(PLOD2):c.880-11G>A
|
|
|
NM_182943.3(PLOD2):c.893dup (p.Ser299fs)
|
|
|
NM_182943.3(PLOD2):c.8dup (p.Cys4fs)
|
rs1353563172
|
|
NM_182943.3(PLOD2):c.934C>A (p.Pro312Thr)
|
rs886044629
|
|
NM_182943.3(PLOD2):c.947A>G (p.Asp316Gly)
|
|
|
NM_182943.3(PLOD2):c.97A>T (p.Ser33Cys)
|
|
|