ClinVar Miner

List of variants reported as pathogenic for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 611
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HGVS dbSNP
F10, ASP282ASN
F10, G-A, -20
F10, GLU14LYS
F10, GLU32GLN
F10, GLU7GLY
F10, PRO343SER
F10, SER334PRO
F10, THR318MET
F10, VAL298MET
F11, DEL
F13A1, 1-BP INS, 1286C
F13A1, 2-BP DEL, 210AG
F13B, 1-BP DEL, IVS1AS, A, -2
F13B, 3-BP INS, AAC
F2, TYR44CYS
F5, 1-BP DEL, 2952T
F5, 1-BP INS, 5493G
F5, 4-BP DEL, EX13
F5, 4-BP INS, 2805ATTG
F5, 8-BP DEL, NT1131
F7, -55C-T
F7, -61T-G
F7, -94C-G
F7, 1-BP DEL, 11128C
F7, ALA244VAL
F7, ARG247HIS
F7, ASN57ASP
F7, CYS178TYR
F7, CYS310PHE
F7, CYS61TER
F7, GLU25LYS
F7, GLY354CYS
F7, IVS4DS, G-A, +1
F7, THR359MET
F8, 1-BP DEL
F8, 1-BP INS, A
F8, 1-BP INS, A, CODON 1414
F8, 10-BP INS, FS
F8, 11-BP DEL, FS
F8, 2-BP DEL, EX8
F8, 2-BP DEL, GA
F8, 2-BP, INS, FS
F8, 23-BP DEL, FS
F8, 3-BP DEL, PHE652DEL
F8, 3-BP DEL, PRO220 DEL
F8, 89-BP DEL, FS
F8, ALU INS
F8, EX1-22DEL
F8, EX1-26DEL
F8, EX1-5DEL
F8, EX1-6DEL
F8, EX10DEL
F8, EX11-18DEL
F8, EX13DUP
F8, EX14-21DEL
F8, EX14-22DEL
F8, EX14DEL
F8, EX15-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX16-26DEL
F8, EX16DEL
F8, EX18-19DEL
F8, EX19-21DEL
F8, EX1DEL
F8, EX2-3DEL
F8, EX2-4DEL
F8, EX22DEL
F8, EX23-24DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX24-25DEL
F8, EX26DEL
F8, EX3-13DEL
F8, EX3-5DEL
F8, EX3DEL
F8, EX4-10DEL
F8, EX4-25DEL
F8, EX5-13DEL
F8, EX5-6 DEL
F8, EX5DEL
F8, EX6DEL
F8, EX7-14DEL
F8, EX7-9DEL
F8, GLU161TER
F8, IVS10AS, G-T, +1
F8, IVS12DS, G-A, +5
F8, IVS14AS, A-G, -2
F8, IVS16DS, G-A, -1
F8, IVS22 INV
F8, IVS4AS, A-G, -2
F8, IVS5AS, A-G, -2
F8, IVS6AS, G-C, -1
F8, IVS6DS, A-G, +3
F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL
F8, LINE INS, EX14
F9, 1-BP DEL, ASP85FS
F9, 17747G-A
F9, 17747G-C
F9, ALU INSERTION, EX5
F9, ARG-1SER
F9, ARG-4GLN
F9, ARG-4TRP
F9, EX1-3DEL
F9, EX1-8DEL
F9, EX1DEL
F9, EX2-8DEL
F9, EX4-5DEL
F9, EX4DEL
F9, EX4INS
F9, EX5-8DEL
F9, EX51INS
F9, EX7DEL
F9, GLU7ASP
F9, GLY367ARG
F9, IVS3DS, T-G
F9, IVS4, 4442-BP DEL
F9, IVS6DS, G-T
F9, IVS7AS, G-A
F9, PHE378LEU
F9, TRP194TER
F9, TRP215TER
F9, TRP310TER
Factor X Ketchikan
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del
NC_000023.10:g.(?_138612860)_(138645598_?)del
NC_000023.10:g.(?_138612860)_(139587225_?)del
NC_000023.10:g.(?_138612918)_(138644235_?)del
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) rs779802284
NM_000128.3(F11):c.1253G>T (p.Gly418Val) rs121965071
NM_000128.3(F11):c.1288G>A (p.Ala430Thr) rs753909969
NM_000128.3(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1378T>G (p.Phe460Val) rs121965065
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.1716+1G>A rs373297713
NM_000128.3(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.3(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.3(F11):c.326-1G>A rs1057517364
NM_000128.3(F11):c.365G>A (p.Gly122Asp)
NM_000128.3(F11):c.403G>T (p.Glu135Ter) rs121965063
NM_000128.3(F11):c.438C>A (p.Cys146Ter) rs121965066
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.802C>T (p.Arg268Cys)
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.841C>T (p.Gln281Ter) rs770505620
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.3(F11):c.976C>T (p.Arg326Cys) rs28934608
NM_000128.3:c.1029-2A>G
NM_000129.3(F13A1):c.-19+12= rs2815822
NM_000129.3(F13A1):c.1243G>T (p.Val415Phe) rs121913070
NM_000129.3(F13A1):c.1326C>A (p.Tyr442Ter) rs121913066
NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg) rs121913068
NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg) rs121913069
NM_000129.3(F13A1):c.1817del (p.His606fs) rs1561641262
NM_000129.3(F13A1):c.183C>A (p.Asn61Lys) rs121913067
NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) rs267606789
NM_000129.3(F13A1):c.2045G>A (p.Arg682His) rs121913064
NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000129.3(F13A1):c.514C>T (p.Arg172Ter) rs121913065
NM_000129.3(F13A1):c.563G>T (p.Trp188Leu) rs1561673120
NM_000129.3(F13A1):c.728T>C (p.Met243Thr) rs267606788
NM_000129.3(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys) rs121913074
NM_000129.3(F13A1):c.949G>T (p.Val317Phe) rs121913073
NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) rs121913072
NM_000129.3:c.603_606delAAGA
NM_000129.3:c.691-1G>A
NM_000130.4(F5):c.1001G>C (p.Arg334Thr) rs118203906
NM_000130.4(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.4(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.4(F5):c.3481C>T (p.Arg1161Ter) rs118203909
NM_000130.4(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys) rs118203907
NM_000130.4(F5):c.5365C>T (p.Arg1789Ter)
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000131.4(F7):c.1061C>T (p.Ala354Val) rs36209567
NM_000131.4(F7):c.1091G>A (p.Arg364Gln) rs121964926
NM_000131.4(F7):c.1165T>G (p.Cys389Gly) rs121964934
NM_000131.4(F7):c.1224T>G (p.His408Gln) rs121964936
NM_000131.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_000131.4(F7):c.479A>G (p.Gln160Arg) rs200016360
NM_000131.4(F7):c.628C>T (p.Gln210Ter) rs267606790
NM_000131.4(F7):c.849_865del (p.Arg284fs) rs786205091
NM_000131.4(F7):c.983T>C (p.Phe328Ser) rs387906508
NM_000132.3(F8):c.1020A>C (p.Glu340Asp)
NM_000132.3(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.3(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.3(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.3(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.3(F8):c.1063C>T (p.Arg355Ter) rs137852368
NM_000132.3(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.3(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) rs375241473
NM_000132.3(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.3(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.3(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.3(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.3(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.3(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.3(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.3(F8):c.121G>T (p.Gly41Cys) rs137852379
NM_000132.3(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.3(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.3(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.3(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.3(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.3(F8):c.1364T>G (p.Phe455Cys)
NM_000132.3(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.3(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.3(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.3(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.3(F8):c.1621A>T (p.Thr541Ser)
NM_000132.3(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.3(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1648C>T (p.Arg550Cys) rs137852417
NM_000132.3(F8):c.1649G>A (p.Arg550His) rs137852418
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.3(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.3(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.3(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.3(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.3(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.3(F8):c.1804C>G (p.Arg602Gly)
NM_000132.3(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.3(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.3(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.3(F8):c.1834C>T (p.Arg612Cys) rs137852428
NM_000132.3(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.3(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.3(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.3(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.3(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.3(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.3(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.3(F8):c.2043G>C (p.Met681Ile)
NM_000132.3(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000132.3(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.3(F8):c.2149C>T (p.Arg717Trp) rs137852435
NM_000132.3(F8):c.2167G>A (p.Ala723Thr) rs137852436
NM_000132.3(F8):c.2215G>A (p.Glu739Lys) rs28937285
NM_000132.3(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.3(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.3(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.3(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.3(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.3(F8):c.2958_2959AG[2] (p.Ser988fs) rs387906448
NM_000132.3(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.3(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.3(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.3(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.3(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.3(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.3(F8):c.362_363GT[1] (p.Val122fs) rs387906435
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.3(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.3(F8):c.396A>C (p.Glu132Asp) rs137852388
NM_000132.3(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.3(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.3(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.3(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.3(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.3(F8):c.4324_4327AAGA[1] (p.Lys1443fs) rs387906454
NM_000132.3(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.3(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.3(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.3(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.3(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.3(F8):c.493C>T (p.Pro165Ser) rs137852393
NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) rs28935203
NM_000132.3(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) rs111033613
NM_000132.3(F8):c.5123G>A (p.Arg1708His) rs111033614
NM_000132.3(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.3(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.3(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.3(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.3(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.3(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.3(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.3(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.3(F8):c.5398C>T (p.Arg1800Cys) rs137852443
NM_000132.3(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.3(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.3(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.3(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.3(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.3(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.3(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.3(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.3(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.3(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.3(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.3(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.3(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.3(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.3(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.3(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.3(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.3(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.3(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.3(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.3(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.3(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.3(F8):c.5918A>T (p.His1973Leu)
NM_000132.3(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.3(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.3(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.3(F8):c.5954G>A (p.Arg1985Gln) rs1490417405
NM_000132.3(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.3(F8):c.601+1632G>A rs387906429
NM_000132.3(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.3(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.3(F8):c.6082G>A (p.Gly2028Arg)
NM_000132.3(F8):c.6089G>A (p.Ser2030Asn) rs369414658
NM_000132.3(F8):c.6104T>C (p.Val2035Ala)
NM_000132.3(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.3(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.3(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.3(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.3(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys) rs137852459
NM_000132.3(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.3(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.3(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.3(F8):c.6434T>G (p.Phe2145Cys)
NM_000132.3(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.3(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.3(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.3(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.3(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.3(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.3(F8):c.6533G>A (p.Arg2178His) rs137852465
NM_000132.3(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.3(F8):c.6544C>T (p.Arg2182Cys) rs137852467
NM_000132.3(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.3(F8):c.6547A>G (p.Met2183Val)
NM_000132.3(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.3(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.3(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.3(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.3(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.3(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.3(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.3(F8):c.6686T>C (p.Leu2229Pro)
NM_000132.3(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.3(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.3(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.3(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.3(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.3(F8):c.6955C>T (p.Pro2319Ser) rs137852374
NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) rs137852473
NM_000132.3(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.3(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) rs137852360
NM_000132.3(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.3(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.3(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.3(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.3(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.3(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.3(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.3(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.3(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.3(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.3(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.3(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.3(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.3(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.3(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.3(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.3(F8):c.940A>G (p.Thr314Ala) rs137852406
NM_000132.3(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.3(F8):c.979C>G (p.Leu327Val)
NM_000132.3(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.3(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.3(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000133.3(F9):c.*1157A>G
NM_000133.3(F9):c.-35G>A
NM_000133.3(F9):c.1009G>A (p.Ala337Thr)
NM_000133.3(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.3(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.3(F9):c.1031T>C (p.Ile344Thr) rs387906482
NM_000133.3(F9):c.1058T>C (p.Val353Ala) rs137852255
NM_000133.3(F9):c.1064G>T (p.Gly355Val) rs137852256
NM_000133.3(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.3(F9):c.1070G>A (p.Gly357Glu) rs137852275
NM_000133.3(F9):c.1088G>T (p.Gly363Val) rs387906479
NM_000133.3(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.3(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.3(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.3(F9):c.1144T>C (p.Cys382Arg) rs137852260
NM_000133.3(F9):c.1150C>T (p.Arg384Ter) rs137852261
NM_000133.3(F9):c.1151G>C (p.Arg384Pro) rs137852283
NM_000133.3(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.3(F9):c.1180A>G (p.Met394Val) rs137852262
NM_000133.3(F9):c.1187G>C (p.Cys396Ser) rs137852273
NM_000133.3(F9):c.1189G>C (p.Ala397Pro) rs137852281
NM_000133.3(F9):c.1217C>T (p.Ser406Leu) rs137852263
NM_000133.3(F9):c.1228G>C (p.Asp410His) rs137852278
NM_000133.3(F9):c.1231A>G (p.Ser411Gly) rs137852277
NM_000133.3(F9):c.1232G>T (p.Ser411Ile) rs137852276
NM_000133.3(F9):c.1240C>A (p.Pro414Thr) rs137852265
NM_000133.3(F9):c.1256T>A (p.Val419Glu) rs137852280
NM_000133.3(F9):c.1307C>A (p.Ala436Glu) rs137852266
NM_000133.3(F9):c.1307C>T (p.Ala436Val) rs137852266
NM_000133.3(F9):c.1324G>A (p.Gly442Arg) rs137852267
NM_000133.3(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.3(F9):c.1357T>C (p.Trp453Arg) rs137852269
NM_000133.3(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.3(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.3(F9):c.218A>T (p.Glu73Val) rs137852226
NM_000133.3(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.3(F9):c.237A>C (p.Glu79Asp) rs137852229
NM_000133.3(F9):c.253-1G>C rs1434866164
NM_000133.3(F9):c.277+2T>C rs587776735
NM_000133.3(F9):c.278-3A>G rs398122990
NM_000133.3(F9):c.278A>G (p.Asp93Gly) rs137852230
NM_000133.3(F9):c.287A>C (p.Gln96Pro) rs137852231
NM_000133.3(F9):c.301C>G (p.Pro101Ala) rs137852232
NM_000133.3(F9):c.316G>A (p.Gly106Ser) rs137852233
NM_000133.3(F9):c.31T>A (p.Ser11Thr) rs387906480
NM_000133.3(F9):c.328G>A (p.Asp110Asn) rs137852274
NM_000133.3(F9):c.329A>G (p.Asp110Gly) rs137852234
NM_000133.3(F9):c.407T>C (p.Ile136Thr)
NM_000133.3(F9):c.479G>C (p.Gly160Ala) rs137852235
NM_000133.3(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.3(F9):c.496A>T (p.Asn166Tyr) rs137852236
NM_000133.3(F9):c.521-35_723+84del
NM_000133.3(F9):c.52T>C (p.Cys18Arg) rs387906474
NM_000133.3(F9):c.538_539AG[1] (p.Arg180fs) rs587776736
NM_000133.3(F9):c.541G>T (p.Val181Phe) rs387906477
NM_000133.3(F9):c.571C>T (p.Arg191Cys) rs137852237
NM_000133.3(F9):c.572G>A (p.Arg191His) rs137852238
NM_000133.3(F9):c.655C>T (p.Gln219Ter) rs137852239
NM_000133.3(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.3(F9):c.682G>T (p.Val228Phe) rs137852243
NM_000133.3(F9):c.697G>A (p.Ala233Thr) rs387906478
NM_000133.3(F9):c.709C>T (p.Gln237Ter) rs137852244
NM_000133.3(F9):c.710A>T (p.Gln237Leu) rs137852245
NM_000133.3(F9):c.755G>C (p.Cys252Ser) rs267606792
NM_000133.3(F9):c.79G>A (p.Glu27Lys) rs387906475
NM_000133.3(F9):c.804T>G (p.Cys268Trp) rs137852246
NM_000133.3(F9):c.82T>C (p.Cys28Arg) rs387906481
NM_000133.3(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.3(F9):c.872A>T (p.Glu291Val) rs137852279
NM_000133.3(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.3(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.3(F9):c.88G>A (p.Val30Ile)
NM_000133.3(F9):c.88G>C (p.Val30Leu)
NM_000133.3(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.3(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000133.3(F9):c.998C>T (p.Pro333Leu) rs137852252
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000301.3(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_000301.3(PLG):c.1435G>T (p.Glu479Ter) rs121918032
NM_000301.3(PLG):c.1848G>A (p.Trp616Ter) rs121918031
NM_000301.3(PLG):c.2125+1del rs606231210
NM_000301.3(PLG):c.687_689GAA[2] (p.Lys231del) rs121918034
NM_000301.3(PLG):c.704G>A (p.Arg235His) rs121918030
NM_000361.2(THBD):c.-151G>T rs16984852
NM_000361.2(THBD):c.1209G>T (p.Arg403Ser) rs398122807
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000505.3(F12):c.1681-1G>A rs199988476
NM_000505.3(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000506.4(F2):c.*97G>A rs1799963
NM_000506.4(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606
NM_000509.5(FGG):c.307+5G>A rs587776838
NM_000509.5(FGG):c.667-320A>T rs587776839
NM_000552.4(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.4(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.4(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.4(VWF):c.221-10_532+52del
NM_000552.4(VWF):c.2279G>A (p.Arg760His) rs61748467
NM_000552.4(VWF):c.2372C>T (p.Thr791Met) rs61748477
NM_000552.4(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.4(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.4(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.4(VWF):c.2446C>T (p.Arg816Trp) rs121964894
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.2921G>A (p.Trp974Ter)
NM_000552.4(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.4(VWF):c.3379+1G>A rs2363337
NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.4(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.4(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.4(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.4(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.4(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.4(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.4(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser) rs61749398
NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.4(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.4(VWF):c.4135C>T (p.Arg1379Cys) rs61750074
NM_000552.4(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.4(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.4(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.4(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter) rs61750595
NM_000552.4(VWF):c.50dup (p.Leu17fs)
NM_000552.4(VWF):c.5347T>G (p.Ser1783Ala) rs267607353
NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) rs61750612
NM_000552.4(VWF):c.5621-47_5842+51del
NM_000552.4(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.4(VWF):c.7252_7253TG[1] (p.Cys2418fs)
NM_000552.4(VWF):c.7360_7376del (p.Thr2454fs)
NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) rs61751286
NM_000552.4(VWF):c.7603C>T (p.Arg2535Ter) rs61751296
NM_000552.4(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000602.4(SERPINE1):c.356dup (p.Ile120fs) rs1554362148
NM_000602.4(SERPINE1):c.43G>A (p.Ala15Thr) rs6092
NM_000602.4(SERPINE1):c.697_698TA[3] (p.Thr234fs) rs1194865614
NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) rs121909675
NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) rs121909676
NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) rs28928872
NM_000821.7(GGCX):c.215-1G>T rs786205096
NM_000892.5(KLKB1):c.1205G>A (p.Trp402Ter) rs121964950
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) rs121964951
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter) rs121964949
NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg) rs121964952
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402
NM_000934.3(SERPINF2):c.1231G>A (p.Val411Met) rs121965062
NM_000934.3(SERPINF2):c.525_527AGA[1] (p.Glu176del) rs121965061
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001171506.2(MCFD2):c.103del (p.Gln35fs) rs1253799389
NM_001171506.2(MCFD2):c.149+5G>A rs387906286
NM_001171506.2(MCFD2):c.249del (p.Asp83fs) rs1294221028
NM_001171506.2(MCFD2):c.265_272del (p.Asp89fs) rs1558461545
NM_001354804.2(F11):c.*1G>C
NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.2(F13B):c.1498del (p.Glu500fs) rs797044453
NM_001994.2(F13B):c.299_300insAAC (p.Tyr100Ter)
NM_005141.4(FGB):c.1148T>G (p.Leu383Arg) rs121909621
NM_005141.4(FGB):c.1244+1G>T rs606231224
NM_005141.4(FGB):c.1289G>A (p.Gly430Asp) rs121909622
NM_005141.4(FGB):c.139C>T (p.Arg47Ter) rs121909625
NM_005141.4(FGB):c.605T>A (p.Leu202Gln) rs121909624
NM_005141.4(FGB):c.794C>T (p.Pro265Leu) rs6054
NM_005141.4(FGB):c.958+13C>T rs606231223
NM_005570.4(LMAN1):c.1149+2T>C rs869312031
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) rs869312033
NM_005570.4(LMAN1):c.2T>C (p.Met1Thr) rs121909253
NM_005570.4(LMAN1):c.796del (p.Gln266fs) rs869312032
NM_005570.4(LMAN1):c.89dup (p.Asp31fs) rs869312030
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782
NM_021870.3(FGG):c.78+5G>A rs587776837
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226
NM_021871.4(FGA):c.510+1G>T rs146387238
NM_021871.4(FGA):c.711dup (p.Lys238Ter) rs606231225
NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) rs72547528
NM_139279.5(MCFD2):c.241G>T (p.Asp81Tyr) rs78289603
NM_139279.5(MCFD2):c.309+1G>A rs387906287
NM_139279.5(MCFD2):c.387C>G (p.Asp129Glu) rs137852913
NM_139279.5(MCFD2):c.407T>C (p.Ile136Thr) rs137852914
SERPINE1, 2-BP INS, 4977TA
SERPINF2, 1-BP INS, 1438C
THBD, -33G-A, PROMOTER
THBD, 1-BP INS, 1689T
THBD, ALA25THR
VWF, 6-BP INS, NT1212
VWF, 8.6-KB DEL, EX4-5
VWF, TRP1745CYS

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