NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_000505.4(F12):c.1027G>C (p.Ala343Pro)
|
rs183643295
|
0.00115
|
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)
|
rs61754019
|
0.00098
|
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)
|
rs141649383
|
0.00074
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
NM_019616.4(F7):c.-30A>C
|
rs539578931
|
0.00048
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00014
|
NM_000504.4(F10):c.1351A>C (p.Ile451Leu)
|
rs369872236
|
0.00011
|
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)
|
rs139695003
|
0.00010
|
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)
|
rs61750077
|
0.00010
|
NM_000552.5(VWF):c.7393G>A (p.Val2465Met)
|
rs375655409
|
0.00010
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00009
|
NM_019616.4(F7):c.854G>A (p.Arg285His)
|
rs121964929
|
0.00009
|
NM_019616.4(F7):c.1085C>T (p.Thr362Met)
|
rs531225271
|
0.00008
|
NM_019616.4(F7):c.413A>G (p.Gln138Arg)
|
rs200016360
|
0.00008
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000128.4(F11):c.943G>A (p.Glu315Lys)
|
rs281875257
|
0.00006
|
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly)
|
rs139845585
|
0.00006
|
NM_019616.4(F7):c.364+1G>A
|
rs1056071555
|
0.00006
|
NM_019616.4(F7):c.845C>T (p.Ala282Val)
|
rs121964931
|
0.00006
|
NM_000128.4(F11):c.1118T>C (p.Leu373Ser)
|
rs375440170
|
0.00005
|
NM_000128.4(F11):c.438C>A (p.Cys146Ter)
|
rs121965066
|
0.00005
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000504.4(F10):c.1097G>A (p.Arg366His)
|
rs143715673
|
0.00005
|
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)
|
rs61749402
|
0.00005
|
NM_000552.5(VWF):c.7450G>A (p.Val2484Ile)
|
rs139864572
|
0.00005
|
NM_019616.4(F7):c.868G>A (p.Val290Met)
|
rs201991361
|
0.00005
|
NM_000128.4(F11):c.1778C>T (p.Thr593Met)
|
rs145906668
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000128.4(F11):c.422C>T (p.Thr141Met)
|
rs200593979
|
0.00004
|
NM_000128.4(F11):c.723C>G (p.Phe241Leu)
|
rs281875265
|
0.00004
|
NM_000130.5(F5):c.2862del (p.Ser955fs)
|
rs765982916
|
0.00004
|
NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln)
|
rs749454966
|
0.00004
|
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)
|
rs61750070
|
0.00004
|
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp)
|
rs369669154
|
0.00004
|
NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)
|
rs369970893
|
0.00004
|
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys)
|
rs370662678
|
0.00004
|
NM_019616.4(F7):c.403G>A (p.Gly135Ser)
|
rs763458490
|
0.00004
|
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)
|
rs78257946
|
0.00004
|
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)
|
rs773905328
|
0.00003
|
NM_000128.4(F11):c.1327C>T (p.Arg443Cys)
|
rs369435407
|
0.00003
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
NM_000128.4(F11):c.3G>T (p.Met1Ile)
|
rs755700350
|
0.00003
|
NM_000132.4(F8):c.1700T>C (p.Ile567Thr)
|
rs782193428
|
0.00003
|
NM_000132.4(F8):c.248C>G (p.Pro83Arg)
|
rs781974394
|
0.00003
|
NM_000132.4(F8):c.733C>T (p.Arg245Trp)
|
rs781943956
|
0.00003
|
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)
|
rs780538558
|
0.00003
|
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp)
|
rs569962285
|
0.00003
|
NM_000552.5(VWF):c.993C>A (p.Cys331Ter)
|
rs147924974
|
0.00003
|
NM_019616.4(F7):c.656C>A (p.Thr219Asn)
|
rs1160146175
|
0.00003
|
NM_019616.4(F7):c.961G>A (p.Gly321Ser)
|
rs1250853566
|
0.00003
|
NM_000128.4(F11):c.325G>A (p.Ala109Thr)
|
rs768474112
|
0.00002
|
NM_000128.4(F11):c.682C>T (p.Arg228Ter)
|
rs752907087
|
0.00002
|
NM_000128.4(F11):c.976C>T (p.Arg326Cys)
|
rs28934608
|
0.00002
|
NM_000130.5(F5):c.1321C>T (p.Arg441Cys)
|
rs747006175
|
0.00002
|
NM_000130.5(F5):c.911G>A (p.Gly304Glu)
|
rs865947251
|
0.00002
|
NM_000132.4(F8):c.1093T>C (p.Tyr365His)
|
rs782216863
|
0.00002
|
NM_000132.4(F8):c.1748A>G (p.Asn583Ser)
|
rs782657516
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000132.4(F8):c.5999-11G>A
|
rs782132907
|
0.00002
|
NM_000552.5(VWF):c.3159G>T (p.Gln1053His)
|
rs61748496
|
0.00002
|
NM_000552.5(VWF):c.7887+2T>A
|
rs113814258
|
0.00002
|
NM_001994.3(F13B):c.805+1G>A
|
rs550859190
|
0.00002
|
NM_019616.4(F7):c.1158T>G (p.His386Gln)
|
rs121964936
|
0.00002
|
NM_019616.4(F7):c.400G>A (p.Gly134Ser)
|
rs563972504
|
0.00002
|
NM_000128.4(F11):c.1060G>A (p.Gly354Arg)
|
rs777714867
|
0.00001
|
NM_000128.4(F11):c.1136-7_1136-4del
|
rs1439195599
|
0.00001
|
NM_000128.4(F11):c.1186C>T (p.Arg396Cys)
|
rs771896253
|
0.00001
|
NM_000128.4(F11):c.1199C>T (p.Pro400Leu)
|
rs533335580
|
0.00001
|
NM_000128.4(F11):c.1207G>A (p.Val403Met)
|
rs281875266
|
0.00001
|
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)
|
rs779802284
|
0.00001
|
NM_000128.4(F11):c.1253G>T (p.Gly418Val)
|
rs121965071
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000128.4(F11):c.1546G>A (p.Val516Met)
|
rs200622588
|
0.00001
|
NM_000128.4(F11):c.1556G>A (p.Trp519Ter)
|
rs201007090
|
0.00001
|
NM_000128.4(F11):c.1608G>C (p.Lys536Asn)
|
rs774280710
|
0.00001
|
NM_000128.4(F11):c.166T>C (p.Cys56Arg)
|
rs121965069
|
0.00001
|
NM_000128.4(F11):c.1693G>A (p.Glu565Lys)
|
rs281875275
|
0.00001
|
NM_000128.4(F11):c.1724C>T (p.Ser575Leu)
|
rs281875250
|
0.00001
|
NM_000128.4(F11):c.1789G>A (p.Glu597Lys)
|
rs281875251
|
0.00001
|
NM_000128.4(F11):c.302A>G (p.Lys101Arg)
|
rs281875272
|
0.00001
|
NM_000128.4(F11):c.359T>C (p.Met120Thr)
|
rs767727775
|
0.00001
|
NM_000128.4(F11):c.408C>A (p.Cys136Ter)
|
rs143648758
|
0.00001
|
NM_000128.4(F11):c.599G>A (p.Cys200Tyr)
|
rs757817254
|
0.00001
|
NM_000128.4(F11):c.616C>T (p.Pro206Ser)
|
rs779123395
|
0.00001
|
NM_000128.4(F11):c.67C>T (p.Gln23Ter)
|
rs768409400
|
0.00001
|
NM_000128.4(F11):c.728C>T (p.Ser243Phe)
|
rs1262002209
|
0.00001
|
NM_000128.4(F11):c.730C>T (p.Gln244Ter)
|
rs747702749
|
0.00001
|
NM_000128.4(F11):c.755+2T>C
|
rs1220869989
|
0.00001
|
NM_000128.4(F11):c.865+1G>C
|
rs1349655563
|
0.00001
|
NM_000128.4(F11):c.965C>T (p.Thr322Ile)
|
rs281875269
|
0.00001
|
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)
|
rs905672088
|
0.00001
|
NM_000130.5(F5):c.5408A>G (p.His1803Arg)
|
rs754104059
|
0.00001
|
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)
|
rs1384690038
|
0.00001
|
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)
|
rs118203910
|
0.00001
|
NM_000131.4(F7):c.-61T>G
|
rs1367115848
|
0.00001
|
NM_000132.4(F8):c.493C>T (p.Pro165Ser)
|
rs137852393
|
0.00001
|
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)
|
rs1046670041
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)
|
rs137852459
|
0.00001
|
NM_000132.4(F8):c.6533G>A (p.Arg2178His)
|
rs137852465
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000132.4(F8):c.6932C>A (p.Pro2311His)
|
rs1047644991
|
0.00001
|
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)
|
rs137852473
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NM_000133.4(F9):c.149G>C (p.Gly50Ala)
|
rs1229048705
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
NM_000504.4(F10):c.1073C>T (p.Thr358Met)
|
rs768222784
|
0.00001
|
NM_000504.4(F10):c.161A>G (p.Glu54Gly)
|
rs121964944
|
0.00001
|
NM_000504.4(F10):c.400G>A (p.Gly134Arg)
|
rs368225671
|
0.00001
|
NM_000506.5(F2):c.260A>G (p.Tyr87Cys)
|
rs1227147475
|
0.00001
|
NM_000552.5(VWF):c.100C>T (p.Arg34Ter)
|
rs61753984
|
0.00001
|
NM_000552.5(VWF):c.1534-3C>A
|
rs61754009
|
0.00001
|
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs)
|
rs61748465
|
0.00001
|
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)
|
rs61748466
|
0.00001
|
NM_000552.5(VWF):c.2303G>A (p.Arg768Gln)
|
rs772203447
|
0.00001
|
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)
|
rs61748482
|
0.00001
|
NM_000552.5(VWF):c.3108+5G>A
|
rs61748495
|
0.00001
|
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)
|
rs1591865617
|
0.00001
|
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)
|
rs373787920
|
0.00001
|
NM_000552.5(VWF):c.3944G>A (p.Arg1315His)
|
rs61749396
|
0.00001
|
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)
|
rs61750074
|
0.00001
|
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)
|
rs61750084
|
0.00001
|
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala)
|
rs61750090
|
0.00001
|
NM_000552.5(VWF):c.55G>A (p.Gly19Arg)
|
rs61753983
|
0.00001
|
NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg)
|
rs1943750562
|
0.00001
|
NM_000552.5(VWF):c.7056C>T (p.Gly2352=)
|
rs746482504
|
0.00001
|
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)
|
rs61751288
|
0.00001
|
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr)
|
rs61751305
|
0.00001
|
NM_000552.5(VWF):c.970C>T (p.Arg324Ter)
|
rs61754000
|
0.00001
|
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu)
|
rs186254196
|
0.00001
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
NM_019616.4(F7):c.1105G>A (p.Gly369Ser)
|
rs190485816
|
0.00001
|
NM_019616.4(F7):c.1219G>A (p.Ala407Thr)
|
rs755377592
|
0.00001
|
NM_019616.4(F7):c.152T>A (p.Leu51Gln)
|
rs45572939
|
0.00001
|
NM_019616.4(F7):c.443G>A (p.Arg148His)
|
rs375134790
|
0.00001
|
NM_019616.4(F7):c.505+78G>A
|
rs764741909
|
0.00001
|
NM_019616.4(F7):c.615+1G>T
|
rs769452933
|
0.00001
|
NM_019616.4(F7):c.739+5G>A
|
rs746625213
|
0.00001
|
NM_021870.3(FGG):c.677G>T (p.Gly226Val)
|
rs1310452604
|
0.00001
|
NM_021871.4(FGA):c.364+1G>A
|
rs778779380
|
0.00001
|
NM_139279.6(MCFD2):c.149+5G>A
|
rs387906286
|
0.00001
|
NC_000002.12:g.5853982_6200592del
|
|
|
NC_000012.11:g.(6105389_6120782)_(6233842_?)del
|
|
|
NM_000128.4(F11):c.1028+1G>A
|
rs1316806485
|
|
NM_000128.4(F11):c.1075del (p.Ile359fs)
|
rs786204429
|
|
NM_000128.4(F11):c.1120T>C (p.Cys374Arg)
|
rs1580090765
|
|
NM_000128.4(F11):c.1232_1235del (p.Thr411fs)
|
rs1057517446
|
|
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)
|
rs538083600
|
|
NM_000128.4(F11):c.1305-1G>A
|
rs1057517204
|
|
NM_000128.4(F11):c.1305-2A>G
|
|
|
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)
|
rs786204724
|
|
NM_000128.4(F11):c.1329del (p.Val444fs)
|
rs1554083727
|
|
NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)
|
|
|
NM_000128.4(F11):c.1351C>T (p.Gln451Ter)
|
|
|
NM_000128.4(F11):c.1362_1375del (p.Lys455fs)
|
rs1554083734
|
|
NM_000128.4(F11):c.1365del (p.Glu456fs)
|
|
|
NM_000128.4(F11):c.1380_1383del (p.Phe460fs)
|
rs1554083736
|
|
NM_000128.4(F11):c.1390C>T (p.Gln464Ter)
|
rs1057517035
|
|
NM_000128.4(F11):c.1408del (p.Asp470fs)
|
|
|
NM_000128.4(F11):c.1472dup (p.Asn491fs)
|
rs1554083753
|
|
NM_000128.4(F11):c.1478C>T (p.Thr493Ile)
|
rs1554083754
|
|
NM_000128.4(F11):c.1480+2T>C
|
rs1554083758
|
|
NM_000128.4(F11):c.1481-1G>C
|
rs1057516506
|
|
NM_000128.4(F11):c.1481-1G>T
|
rs1057516506
|
|
NM_000128.4(F11):c.152C>T (p.Thr51Ile)
|
rs281875252
|
|
NM_000128.4(F11):c.155dup (p.Tyr52Ter)
|
rs1554081886
|
|
NM_000128.4(F11):c.1560dup (p.Tyr521fs)
|
rs1057516777
|
|
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs)
|
rs1554084031
|
|
NM_000128.4(F11):c.1676_1682del (p.Ile559fs)
|
rs1057517171
|
|
NM_000128.4(F11):c.16C>T (p.Gln6Ter)
|
rs1554081288
|
|
NM_000128.4(F11):c.1724C>A (p.Ser575Ter)
|
rs281875250
|
|
NM_000128.4(F11):c.174_175dup (p.Phe59fs)
|
|
|
NM_000128.4(F11):c.1782C>A (p.Ser594Arg)
|
rs28934609
|
|
NM_000128.4(F11):c.1789G>T (p.Glu597Ter)
|
rs281875251
|
|
NM_000128.4(F11):c.1831G>A (p.Val611Met)
|
|
|
NM_000128.4(F11):c.1837G>A (p.Glu613Lys)
|
|
|
NM_000128.4(F11):c.218+1G>A
|
rs1057516738
|
|
NM_000128.4(F11):c.218+4A>G
|
rs767240420
|
|
NM_000128.4(F11):c.219G>A (p.Trp73Ter)
|
rs762013077
|
|
NM_000128.4(F11):c.228T>A (p.Cys76Ter)
|
|
|
NM_000128.4(F11):c.25_28del (p.His9fs)
|
rs1057516616
|
|
NM_000128.4(F11):c.291del (p.Tyr98fs)
|
rs1057517151
|
|
NM_000128.4(F11):c.2T>A (p.Met1Lys)
|
rs1554081281
|
|
NM_000128.4(F11):c.325+1G>T
|
|
|
NM_000128.4(F11):c.343del (p.Tyr115fs)
|
rs1580075457
|
|
NM_000128.4(F11):c.38_39del (p.Phe13fs)
|
|
|
NM_000128.4(F11):c.415A>T (p.Arg139Ter)
|
|
|
NM_000128.4(F11):c.449C>T (p.Thr150Met)
|
rs1340928778
|
|
NM_000128.4(F11):c.485+1G>T
|
|
|
NM_000128.4(F11):c.486-2A>G
|
rs1057516695
|
|
NM_000128.4(F11):c.596-7_600del
|
rs1057517116
|
|
NM_000128.4(F11):c.60T>A (p.Cys20Ter)
|
|
|
NM_000128.4(F11):c.614del (p.Phe205fs)
|
|
|
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)
|
rs1459304265
|
|
NM_000128.4(F11):c.664G>T (p.Asp222Tyr)
|
rs281875245
|
|
NM_000128.4(F11):c.668del (p.Ala223fs)
|
|
|
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
|
|
|
NM_000128.4(F11):c.729_735del (p.Gln244fs)
|
|
|
NM_000128.4(F11):c.738del (p.Trp246fs)
|
|
|
NM_000128.4(F11):c.751C>T (p.Gln251Ter)
|
rs754087775
|
|
NM_000128.4(F11):c.752_755+25delinsT
|
|
|
NM_000128.4(F11):c.769del (p.Thr259fs)
|
rs1554082832
|
|
NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)
|
|
|
NM_000128.4(F11):c.908del (p.Gly303fs)
|
rs786204722
|
|
NM_000128.4(F11):c.90del (p.Phe30fs)
|
|
|
NM_000128.4(F11):c.961_962del (p.Cys321fs)
|
rs786204449
|
|
NM_000128.4(F11):c.963C>A (p.Cys321Ter)
|
|
|
NM_000128.4(F11):c.964_965del (p.Thr322fs)
|
rs1057516431
|
|
NM_000128.4(F11):c.973G>T (p.Val325Phe)
|
rs764711007
|
|
NM_000128.4(F11):c.977G>A (p.Arg326His)
|
rs1554082932
|
|
NM_000128.4(F11):c.990del (p.Phe330fs)
|
rs1554082938
|
|
NM_000128.4(F11):c.990dup (p.Thr331fs)
|
rs1554082938
|
|
NM_000129.4(F13A1):c.1112+1G>A
|
|
|
NM_000129.4(F13A1):c.1352_1353del (p.His451fs)
|
rs1561645895
|
|
NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter)
|
rs757172838
|
|
NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)
|
|
|
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu)
|
rs768024997
|
|
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)
|
|
|
NM_000129.4(F13A1):c.669del (p.Arg224fs)
|
|
|
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)
|
|
|
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)
|
|
|
NM_000129.4(F13A1):c.888C>G (p.Ser296Arg)
|
rs778181928
|
|
NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)
|
|
|
NM_000130.5(F5):c.1297-2A>G
|
rs762646464
|
|
NM_000130.5(F5):c.1396+2T>C
|
|
|
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)
|
rs1571581722
|
|
NM_000130.5(F5):c.1619C>T (p.Ala540Val)
|
|
|
NM_000130.5(F5):c.1671G>C (p.Trp557Cys)
|
rs1571578995
|
|
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
|
|
|
NM_000130.5(F5):c.1830_1831dup (p.His611fs)
|
rs1571577365
|
|
NM_000130.5(F5):c.2218C>T (p.Arg740Ter)
|
rs757953549
|
|
NM_000130.5(F5):c.2539del (p.Ile847fs)
|
rs1571575520
|
|
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs)
|
rs1571574574
|
|
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer)
|
rs2101818861
|
|
NM_000130.5(F5):c.373+1G>A
|
|
|
NM_000130.5(F5):c.374-2del
|
|
|
NM_000130.5(F5):c.413dup (p.Met138fs)
|
|
|
NM_000130.5(F5):c.4962_4971+3del
|
|
|
NM_000130.5(F5):c.5209-2A>G
|
|
|
NM_000130.5(F5):c.5420-63_5554delinsG
|
|
|
NM_000130.5(F5):c.5789-1G>A
|
|
|
NM_000130.5(F5):c.5789-1G>T
|
|
|
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
|
|
|
NM_000130.5(F5):c.953-1G>A
|
|
|
NM_000131.4(F7):c.-55C>T
|
rs1418012389
|
|
NM_000132.4(F8):c.1034T>C (p.Val345Ala)
|
rs1189348665
|
|
NM_000132.4(F8):c.1073dup (p.Asn358fs)
|
rs1603435281
|
|
NM_000132.4(F8):c.1120del (p.Met374fs)
|
|
|
NM_000132.4(F8):c.1169T>C (p.Ile390Thr)
|
rs2124106062
|
|
NM_000132.4(F8):c.1180del (p.Ala394fs)
|
|
|
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
|
|
|
NM_000132.4(F8):c.1430G>T (p.Gly477Val)
|
rs2124105158
|
|
NM_000132.4(F8):c.143G>A (p.Arg48Lys)
|
rs1261929809
|
|
NM_000132.4(F8):c.1443+5G>A
|
rs1195283929
|
|
NM_000132.4(F8):c.1444-3C>G
|
rs1603435027
|
|
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)
|
rs1603435026
|
|
NM_000132.4(F8):c.1481T>G (p.Ile494Ser)
|
rs137852413
|
|
NM_000132.4(F8):c.1504G>T (p.Val502Phe)
|
rs2073393106
|
|
NM_000132.4(F8):c.1538-18G>A
|
rs1482306571
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
NM_000132.4(F8):c.1654T>C (p.Tyr552His)
|
rs1603434863
|
|
NM_000132.4(F8):c.1804C>G (p.Arg602Gly)
|
rs137852424
|
|
NM_000132.4(F8):c.1825A>C (p.Asn609His)
|
rs2073350730
|
|
NM_000132.4(F8):c.1894del (p.Ile632fs)
|
rs1603434698
|
|
NM_000132.4(F8):c.1898T>G (p.Met633Arg)
|
rs1603434697
|
|
NM_000132.4(F8):c.1904-2A>G
|
|
|
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
|
|
|
NM_000132.4(F8):c.1930T>G (p.Leu644Val)
|
rs2124082414
|
|
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
|
|
|
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
|
|
|
NM_000132.4(F8):c.2099C>T (p.Ser700Leu)
|
rs1359096117
|
|
NM_000132.4(F8):c.2101A>G (p.Met701Val)
|
rs2073313804
|
|
NM_000132.4(F8):c.2114-6760_2257del
|
|
|
NM_000132.4(F8):c.219C>G (p.Phe73Leu)
|
rs1603436770
|
|
NM_000132.4(F8):c.2627T>A (p.Leu876Ter)
|
rs2073195449
|
|
NM_000132.4(F8):c.262A>G (p.Met88Val)
|
rs782731044
|
|
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
|
|
|
NM_000132.4(F8):c.2974_2977del (p.Phe992fs)
|
rs2124052011
|
|
NM_000132.4(F8):c.308T>C (p.Val103Ala)
|
rs2073621465
|
|
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter)
|
rs1060499784
|
|
NM_000132.4(F8):c.3247_3248del (p.Met1083fs)
|
rs1603433803
|
|
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
|
|
|
NM_000132.4(F8):c.3637del (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.377A>G (p.Lys126Arg)
|
rs1603436639
|
|
NM_000132.4(F8):c.3780del (p.Asp1260fs)
|
rs2124050215
|
|
NM_000132.4(F8):c.382T>C (p.Ser128Pro)
|
rs1603436638
|
|
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter)
|
rs2073182544
|
|
NM_000132.4(F8):c.403G>T (p.Asp135Tyr)
|
rs2073597882
|
|
NM_000132.4(F8):c.4313dup (p.Ser1439fs)
|
rs1603433756
|
|
NM_000132.4(F8):c.4379dup (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.460A>C (p.Thr154Pro)
|
rs1603436436
|
|
NM_000132.4(F8):c.460A>G (p.Thr154Ala)
|
rs1603436436
|
|
NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs)
|
rs886039906
|
|
NM_000132.4(F8):c.476T>A (p.Val159Asp)
|
|
|
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr)
|
rs2073173387
|
|
NM_000132.4(F8):c.509C>T (p.Pro170Leu)
|
rs2124140933
|
|
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_000132.4(F8):c.5217C>T (p.Asn1739=)
|
rs1603433715
|
|
NM_000132.4(F8):c.5219+2T>C
|
rs1603433713
|
|
NM_000132.4(F8):c.5219G>T (p.Arg1740Met)
|
rs1444273117
|
|
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)
|
|
|
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys)
|
rs2124000594
|
|
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)
|
rs137852445
|
|
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg)
|
rs2073029867
|
|
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr)
|
rs1603432996
|
|
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)
|
rs28933675
|
|
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
|
|
|
NM_000132.4(F8):c.5586+2T>C
|
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000132.4(F8):c.558C>A (p.Asp186Glu)
|
rs1603436426
|
|
NM_000132.4(F8):c.55A>C (p.Ser19Arg)
|
rs2124174458
|
|
NM_000132.4(F8):c.5666A>G (p.Gln1889Arg)
|
rs2123997081
|
|
NM_000132.4(F8):c.5724del (p.Trp1908fs)
|
rs2073026512
|
|
NM_000132.4(F8):c.5813A>G (p.His1938Arg)
|
rs1603432981
|
|
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)
|
rs1603432979
|
|
NM_000132.4(F8):c.5816-2A>G
|
rs2123996454
|
|
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
|
|
|
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe)
|
rs1411617809
|
|
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)
|
rs28937294
|
|
NM_000132.4(F8):c.5896A>C (p.Met1966Leu)
|
rs1603432970
|
|
NM_000132.4(F8):c.592T>G (p.Cys198Gly)
|
rs137852475
|
|
NM_000132.4(F8):c.5939_5940del (p.His1980fs)
|
|
|
NM_000132.4(F8):c.5994del (p.Pro1999fs)
|
|
|
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala)
|
rs1603432913
|
|
NM_000132.4(F8):c.601G>A (p.Gly201Arg)
|
rs1229954426
|
|
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg)
|
rs2073013277
|
|
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln)
|
rs1444225681
|
|
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
|
|
|
NM_000132.4(F8):c.605G>A (p.Ser202Asn)
|
rs1603436218
|
|
NM_000132.4(F8):c.606T>G (p.Ser202Arg)
|
rs1603436217
|
|
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly)
|
rs2123993603
|
|
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr)
|
rs2123993600
|
|
NM_000132.4(F8):c.6273G>A (p.Lys2091=)
|
rs2148584915
|
|
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
|
|
|
NM_000132.4(F8):c.6274-2A>G
|
|
|
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn)
|
rs1603432784
|
|
NM_000132.4(F8):c.6301C>G (p.His2101Asp)
|
rs1603432783
|
|
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
|
|
|
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
|
|
|
NM_000132.4(F8):c.640T>G (p.Phe214Val)
|
rs2073563995
|
|
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser)
|
rs1603431561
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
|
|
|
NM_000132.4(F8):c.650T>C (p.Leu217Pro)
|
rs2124134359
|
|
NM_000132.4(F8):c.650T>G (p.Leu217Arg)
|
rs2124134359
|
|
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)
|
rs137852465
|
|
NM_000132.4(F8):c.6547A>G (p.Met2183Val)
|
rs781797728
|
|
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)
|
rs2148568062
|
|
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg)
|
rs1603431512
|
|
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu)
|
rs2148567338
|
|
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly)
|
rs2072694107
|
|
NM_000132.4(F8):c.665A>C (p.Asp222Ala)
|
rs137852396
|
|
NM_000132.4(F8):c.6678del (p.Ala2227fs)
|
rs1273763950
|
|
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp)
|
rs2072692745
|
|
NM_000132.4(F8):c.671-50_787+50del
|
rs1603436123
|
|
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
|
|
|
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu)
|
rs1174359623
|
|
NM_000132.4(F8):c.6776T>A (p.Val2259Asp)
|
rs1603431479
|
|
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro)
|
rs2072682503
|
|
NM_000132.4(F8):c.683A>C (p.His228Pro)
|
|
|
NM_000132.4(F8):c.6900+1G>C
|
|
|
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala)
|
rs1603430929
|
|
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)
|
rs373079141
|
|
NM_000132.4(F8):c.6956dup (p.Leu2320fs)
|
rs1475873048
|
|
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter)
|
rs2148555597
|
|
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro)
|
rs137852474
|
|
NM_000132.4(F8):c.6975del (p.Arg2326fs)
|
rs2148555575
|
|
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys)
|
rs2072484280
|
|
NM_000132.4(F8):c.745A>T (p.Lys249Ter)
|
|
|
NM_000132.4(F8):c.74A>G (p.Tyr25Cys)
|
rs2124174443
|
|
NM_000132.4(F8):c.755C>T (p.Thr252Ile)
|
rs1464962436
|
|
NM_000132.4(F8):c.787+5G>C
|
rs1378662017
|
|
NM_000132.4(F8):c.797G>A (p.Gly266Glu)
|
rs137852398
|
|
NM_000132.4(F8):c.836T>G (p.Met279Arg)
|
|
|
NM_000132.4(F8):c.83_87del (p.Ala28fs)
|
rs1603437863
|
|
NM_000132.4(F8):c.853G>A (p.Val285Met)
|
rs2073444412
|
|
NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)
|
|
|
NM_000132.4(F8):c.901C>T (p.Arg301Cys)
|
rs1401805753
|
|
NM_000132.4(F8):c.967G>A (p.Gly323Arg)
|
rs2124109849
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
|
NM_000132.4(F8):c.984T>G (p.Phe328Leu)
|
rs782668199
|
|
NM_000132.4(F8):c.986G>A (p.Cys329Tyr)
|
rs137852409
|
|
NM_000132.4(F8):c.992T>C (p.Ile331Thr)
|
rs2073442480
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
NM_000133.4(F9):c.-17A>G
|
rs1927322926
|
|
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
|
|
|
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
|
|
|
NM_000133.4(F9):c.1005C>G (p.Cys335Trp)
|
rs1928110579
|
|
NM_000133.4(F9):c.1009G>C (p.Ala337Pro)
|
rs137852253
|
|
NM_000133.4(F9):c.1024A>G (p.Thr342Ala)
|
rs1603267362
|
|
NM_000133.4(F9):c.1025C>T (p.Thr342Met)
|
rs137852254
|
|
NM_000133.4(F9):c.1069G>A (p.Gly357Arg)
|
rs137852257
|
|
NM_000133.4(F9):c.1079T>C (p.Phe360Ser)
|
|
|
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
|
|
|
NM_000133.4(F9):c.1105C>T (p.Leu369Phe)
|
rs2148367939
|
|
NM_000133.4(F9):c.1106T>C (p.Leu369Pro)
|
rs1603267393
|
|
NM_000133.4(F9):c.1174A>G (p.Asn392Asp)
|
rs1603267412
|
|
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
|
|
|
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
|
|
|
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
|
|
|
NM_000133.4(F9):c.1272C>A (p.Phe424Leu)
|
|
|
NM_000133.4(F9):c.1295G>C (p.Gly432Ala)
|
rs1928130497
|
|
NM_000133.4(F9):c.141T>A (p.Tyr47Ter)
|
rs1556435929
|
|
NM_000133.4(F9):c.236A>T (p.Glu79Val)
|
|
|
NM_000133.4(F9):c.251C>T (p.Thr84Ile)
|
|
|
NM_000133.4(F9):c.271T>A (p.Tyr91Asn)
|
rs1927507602
|
|
NM_000133.4(F9):c.280G>A (p.Gly94Arg)
|
rs1556437035
|
|
NM_000133.4(F9):c.284A>C (p.Asp95Ala)
|
rs1927589695
|
|
NM_000133.4(F9):c.284A>T (p.Asp95Val)
|
rs1927589695
|
|
NM_000133.4(F9):c.302C>A (p.Pro101Gln)
|
rs2148357901
|
|
NM_000133.4(F9):c.314G>A (p.Gly105Asp)
|
rs1927590546
|
|
NM_000133.4(F9):c.365G>T (p.Gly122Val)
|
rs1927592770
|
|
NM_000133.4(F9):c.368T>C (p.Phe123Ser)
|
rs1927592901
|
|
NM_000133.4(F9):c.382T>C (p.Cys128Arg)
|
|
|
NM_000133.4(F9):c.391+5G>A
|
rs2148358021
|
|
NM_000133.4(F9):c.391+5_391+8del
|
rs1927593812
|
|
NM_000133.4(F9):c.482A>G (p.Tyr161Cys)
|
rs1927768329
|
|
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
|
|
|
NM_000133.4(F9):c.519dup (p.Val174fs)
|
rs1556006174
|
|
NM_000133.4(F9):c.520G>A (p.Val174Met)
|
rs1603265504
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000133.4(F9):c.718T>G (p.Trp240Gly)
|
rs1390220758
|
|
NM_000133.4(F9):c.724-5_731del
|
rs1603267163
|
|
NM_000133.4(F9):c.731T>C (p.Leu244Ser)
|
rs1603267171
|
|
NM_000133.4(F9):c.756T>G (p.Cys252Trp)
|
rs1556008316
|
|
NM_000133.4(F9):c.757G>A (p.Gly253Arg)
|
rs1603267181
|
|
NM_000133.4(F9):c.796G>A (p.Ala266Thr)
|
|
|
NM_000133.4(F9):c.802T>A (p.Cys268Ser)
|
rs1603267194
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000133.4(F9):c.835G>C (p.Ala279Pro)
|
rs137852247
|
|
NM_000133.4(F9):c.845A>G (p.His282Arg)
|
rs753654616
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
|
|
NM_000133.4(F9):c.86C>T (p.Thr29Ile)
|
|
|
NM_000133.4(F9):c.88+1G>A
|
rs1603263397
|
|
NM_000133.4(F9):c.88+5G>T
|
rs1603263401
|
|
NM_000133.4(F9):c.884_895del (p.Asn295_Arg298del)
|
rs1928103331
|
|
NM_000133.4(F9):c.914A>G (p.Tyr305Cys)
|
rs1603267332
|
|
NM_000133.4(F9):c.947T>C (p.Ile316Thr)
|
rs1603267344
|
|
NM_000133.4(F9):c.950C>T (p.Ala317Val)
|
rs2148367725
|
|
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
|
|
|
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val)
|
rs121908062
|
|
NM_000301.5(PLG):c.2019-1G>A
|
rs2115181746
|
|
NM_000504.4(F10):c.1036C>T (p.Arg346Cys)
|
|
|
NM_000504.4(F10):c.1087G>A (p.Gly363Ser)
|
rs1595099527
|
|
NM_000504.4(F10):c.119G>C (p.Arg40Thr)
|
|
|
NM_000504.4(F10):c.1210T>C (p.Cys404Arg)
|
rs1595099645
|
|
NM_000504.4(F10):c.1252G>C (p.Asp418His)
|
rs2138557799
|
|
NM_000504.4(F10):c.1348G>A (p.Gly450Arg)
|
rs1595099844
|
|
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
|
rs121964939
|
|
NM_000504.4(F10):c.167A>G (p.Glu56Gly)
|
|
|
NM_000504.4(F10):c.205G>A (p.Glu69Lys)
|
rs1325135019
|
|
NM_000504.4(F10):c.212T>C (p.Phe71Ser)
|
|
|
NM_000504.4(F10):c.232-2563_503-451del
|
|
|
NM_000504.4(F10):c.248_251del (p.Lys83fs)
|
|
|
NM_000504.4(F10):c.256G>A (p.Asp86Asn)
|
|
|
NM_000504.4(F10):c.270T>A (p.Cys90Ter)
|
|
|
NM_000504.4(F10):c.299_300del (p.Lys100fs)
|
|
|
NM_000504.4(F10):c.305_306del (p.Lys102fs)
|
|
|
NM_000505.4(F12):c.1517del (p.Gly506fs)
|
|
|
NM_000505.4(F12):c.415C>T (p.Gln139Ter)
|
|
|
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)
|
rs2134533215
|
|
NM_000506.5(F2):c.1094T>A (p.Val365Glu)
|
rs747234596
|
|
NM_000506.5(F2):c.1270G>A (p.Val424Met)
|
rs1310397756
|
|
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)
|
rs2134537035
|
|
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
|
|
|
NM_000506.5(F2):c.422+1G>A
|
|
|
NM_000506.5(F2):c.995G>C (p.Gly332Ala)
|
rs2134532862
|
|
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)
|
rs121909613
|
|
NM_000552.5(VWF):c.1051del (p.Val351fs)
|
rs2136470584
|
|
NM_000552.5(VWF):c.1156+1G>A
|
|
|
NM_000552.5(VWF):c.1293+2T>C
|
rs1591895879
|
|
NM_000552.5(VWF):c.1339del (p.Arg447fs)
|
rs1591895308
|
|
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser)
|
rs61754010
|
|
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)
|
rs1591890769
|
|
NM_000552.5(VWF):c.1708T>C (p.Cys570Arg)
|
rs2136455744
|
|
NM_000552.5(VWF):c.1931_1945+5del
|
rs2136454053
|
|
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe)
|
rs1438247325
|
|
NM_000552.5(VWF):c.1974C>G (p.Tyr658Ter)
|
rs761288966
|
|
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr)
|
rs1591886521
|
|
NM_000552.5(VWF):c.2157del (p.Asp720fs)
|
rs62643628
|
|
NM_000552.5(VWF):c.221-6_532+30del
|
rs1591924208
|
|
NM_000552.5(VWF):c.2311A>G (p.Met771Val)
|
rs1212894308
|
|
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp)
|
rs2136440319
|
|
NM_000552.5(VWF):c.2443-1G>C
|
rs61748480
|
|
NM_000552.5(VWF):c.2516del (p.Gly839fs)
|
rs61748481
|
|
NM_000552.5(VWF):c.2546+3G>C
|
rs1565838728
|
|
NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr)
|
rs772796741
|
|
NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs)
|
rs1591874316
|
|
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn)
|
rs267607312
|
|
NM_000552.5(VWF):c.3179del (p.Cys1060fs)
|
rs762105711
|
|
NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs)
|
rs2136418339
|
|
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser)
|
rs267607321
|
|
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr)
|
rs267607324
|
|
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met)
|
rs267607328
|
|
NM_000552.5(VWF):c.3515G>T (p.Gly1172Val)
|
rs1555195293
|
|
NM_000552.5(VWF):c.3538+1G>C
|
|
|
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg)
|
rs267607332
|
|
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)
|
rs61749364
|
|
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)
|
rs1591865026
|
|
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)
|
|
|
NM_000552.5(VWF):c.3675-1G>A
|
rs746457842
|
|
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg)
|
rs61749366
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.3802C>G (p.His1268Asp)
|
rs61749371
|
|
NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs)
|
rs2136413792
|
|
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu)
|
rs61749375
|
|
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs)
|
rs61749377
|
|
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro)
|
rs1591863438
|
|
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro)
|
rs61749378
|
|
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg)
|
rs267607334
|
|
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu)
|
rs61749388
|
|
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn)
|
rs2136413547
|
|
NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro)
|
rs2136413535
|
|
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)
|
rs61749395
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys)
|
rs1591863294
|
|
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)
|
rs61749400
|
|
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro)
|
rs61749403
|
|
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser)
|
rs61749408
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
|
NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu)
|
rs61750069
|
|
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)
|
rs61750072
|
|
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del)
|
rs61750078
|
|
NM_000552.5(VWF):c.421G>A (p.Asp141Asn)
|
rs61753992
|
|
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn)
|
rs61750081
|
|
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)
|
rs61750081
|
|
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp)
|
rs2136412846
|
|
NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys)
|
rs61750082
|
|
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)
|
rs61750083
|
|
NM_000552.5(VWF):c.4276C>A (p.Arg1426Ser)
|
rs555366738
|
|
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)
|
|
|
NM_000552.5(VWF):c.4414del (p.Asp1472fs)
|
rs2136412581
|
|
NM_000552.5(VWF):c.4470del (p.Lys1491fs)
|
rs2136412494
|
|
NM_000552.5(VWF):c.449T>C (p.Leu150Pro)
|
rs61753994
|
|
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)
|
rs61750100
|
|
NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg)
|
rs2136412350
|
|
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del)
|
rs267607340
|
|
NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys)
|
rs2136412168
|
|
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer)
|
rs267607345
|
|
NM_000552.5(VWF):c.4637T>G (p.Val1546Gly)
|
rs1591862366
|
|
NM_000552.5(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer)
|
rs1591862342
|
|
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg)
|
rs61750110
|
|
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser)
|
rs267607349
|
|
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)
|
rs61750580
|
|
NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del)
|
rs2136411706
|
|
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg)
|
rs61750585
|
|
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp)
|
rs2136411659
|
|
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)
|
rs1591862022
|
|
NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro)
|
rs61750593
|
|
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu)
|
rs61750596
|
|
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del)
|
rs2136409523
|
|
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg)
|
rs2136409514
|
|
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe)
|
rs2136409487
|
|
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro)
|
rs1194776238
|
|
NM_000552.5(VWF):c.5170+1G>A
|
rs764543553
|
|
NM_000552.5(VWF):c.5281dup (p.Met1761fs)
|
|
|
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser)
|
rs61750605
|
|
NM_000552.5(VWF):c.533-2A>G
|
rs267607301
|
|
NM_000552.5(VWF):c.533-48_657+52del
|
rs1591914708
|
|
NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg)
|
rs61750610
|
|
NM_000552.5(VWF):c.5520dup (p.Gly1841fs)
|
rs1591858979
|
|
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)
|
|
|
NM_000552.5(VWF):c.592C>T (p.Gln198Ter)
|
rs2136500386
|
|
NM_000552.5(VWF):c.6227del (p.Thr2076fs)
|
rs2136385937
|
|
NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr)
|
rs1591848387
|
|
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe)
|
rs61750620
|
|
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr)
|
rs2136385288
|
|
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser)
|
rs2136385288
|
|
NM_000552.5(VWF):c.6798+1G>T
|
rs61750624
|
|
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg)
|
rs2136376158
|
|
NM_000552.5(VWF):c.6854del (p.Ser2285fs)
|
|
|
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr)
|
rs61750626
|
|
NM_000552.5(VWF):c.6917del (p.Leu2306fs)
|
rs2136375588
|
|
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)
|
rs1256082707
|
|
NM_000552.5(VWF):c.7082-2A>G
|
rs267607358
|
|
NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)
|
|
|
NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr)
|
rs1591838833
|
|
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter)
|
rs1591838792
|
|
NM_000552.5(VWF):c.7525del (p.Asp2509fs)
|
rs1591836930
|
|
NM_000552.5(VWF):c.7580C>A (p.Pro2527His)
|
rs1943442849
|
|
NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)
|
|
|
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)
|
rs267607364
|
|
NM_000552.5(VWF):c.7730-1G>C
|
rs267607366
|
|
NM_000552.5(VWF):c.7730-1G>T
|
rs267607366
|
|
NM_000552.5(VWF):c.7770+1G>T
|
rs200770256
|
|
NM_000552.5(VWF):c.7863del (p.Thr2622fs)
|
rs1591834850
|
|
NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del)
|
rs63749067
|
|
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr)
|
rs61751303
|
|
NM_000552.5(VWF):c.8155+1G>T
|
rs1943194455
|
|
NM_000552.5(VWF):c.8155+2_8155+3del
|
rs2136338728
|
|
NM_000552.5(VWF):c.8155+3G>C
|
rs61751304
|
|
NM_000552.5(VWF):c.8155+6T>C
|
rs1223422347
|
|
NM_000552.5(VWF):c.823T>A (p.Cys275Ser)
|
rs61753998
|
|
NM_000552.5(VWF):c.823T>C (p.Cys275Arg)
|
rs61753998
|
|
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del)
|
rs267607368
|
|
NM_000552.5(VWF):c.949del (p.Ile317fs)
|
rs2136472072
|
|
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter)
|
rs1691898752
|
|
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp)
|
rs1692107154
|
|
NM_000821.7(GGCX):c.973dup (p.Arg325fs)
|
rs768019203
|
|
NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn)
|
rs142420360
|
|
NM_005141.5(FGB):c.490+1G>C
|
rs111502670
|
|
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
|
|
|
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter)
|
rs183873209
|
|
NM_019616.4(F7):c.1048C>T (p.Gln350Ter)
|
rs1595080617
|
|
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
|
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_019616.4(F7):c.145G>C (p.Gly49Arg)
|
rs376384665
|
|
NM_019616.4(F7):c.149C>G (p.Ser50Cys)
|
rs546856641
|
|
NM_019616.4(F7):c.154dup (p.Glu52fs)
|
|
|
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
|
|
|
NM_019616.4(F7):c.220A>G (p.Arg74Gly)
|
rs2142212748
|
|
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
|
|
|
NM_019616.4(F7):c.64+1005G>A
|
|
|
NM_019616.4(F7):c.649G>C (p.Gly217Arg)
|
rs2142229154
|
|
NM_019616.4(F7):c.737T>C (p.Leu246Pro)
|
rs2142229513
|
|
NM_019616.4(F7):c.739+3_739+6del
|
rs754785708
|
|
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
|
|
|
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del)
|
rs757743255
|
|
NM_019616.4(F7):c.857T>C (p.Leu286Pro)
|
rs2142232799
|
|
NM_019616.4(F7):c.86C>A (p.Ala29Asp)
|
rs2036074360
|
|
NM_019616.4(F7):c.871del (p.Val291fs)
|
rs2142232898
|
|
NM_019616.4(F7):c.[179G>T;190_191delinsTT]
|
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
NM_021870.3(FGG):c.1030G>C (p.Asp344His)
|
|
|
NM_021870.3(FGG):c.1067A>G (p.Asp356Gly)
|
|
|
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile)
|
rs1731071910
|
|
NM_021871.4(FGA):c.103C>G (p.Arg35Gly)
|
rs121909606
|
|
NM_021871.4(FGA):c.1055del (p.Pro352fs)
|
rs1299596156
|
|
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
|
|
|
NM_021871.4(FGA):c.1754del (p.Ser585fs)
|
|
|
NM_021871.4(FGA):c.431_432del (p.Lys144fs)
|
rs934668242
|
|
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)
|
rs776817952
|
|
NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs)
|
rs1484184249
|
|
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro)
|
rs1572611822
|
|
Single allele
|
|
|