ClinVar Miner

List of variants studied for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1638
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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.*1033A>G rs886059305
NM_000128.3(F11):c.*262A>G rs886059300
NM_000128.3(F11):c.*265A>G rs4253429
NM_000128.3(F11):c.*296G>C rs4253430
NM_000128.3(F11):c.*322G>A rs4253865
NM_000128.3(F11):c.*479A>T rs1062547
NM_000128.3(F11):c.*576G>A rs886059301
NM_000128.3(F11):c.*584A>T rs766777099
NM_000128.3(F11):c.*636A>G rs886059302
NM_000128.3(F11):c.*728T>C rs566734345
NM_000128.3(F11):c.*822A>G rs558079340
NM_000128.3(F11):c.*852G>A rs4253431
NM_000128.3(F11):c.*885G>A rs4253432
NM_000128.3(F11):c.*902G>A rs555668089
NM_000128.3(F11):c.*928G>A rs556465646
NM_000128.3(F11):c.*952G>A rs886059303
NM_000128.3(F11):c.*977_*979delATT rs886059304
NM_000128.3(F11):c.-183T>C rs886059297
NM_000128.3(F11):c.-2G>C
NM_000128.3(F11):c.-300C>T rs886059296
NM_000128.3(F11):c.-316C>G rs3733403
NM_000128.3(F11):c.-326C>G rs753031984
NM_000128.3(F11):c.-456G>A rs1004061199
NM_000128.3(F11):c.-54G>A rs4253814
NM_000128.3(F11):c.1016G>T (p.Cys339Phe) rs5967
NM_000128.3(F11):c.1028+1G>A rs1316806485
NM_000128.3(F11):c.1028+9T>C rs376630194
NM_000128.3(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.3(F11):c.1084G>A (p.Gly362Arg) rs142096488
NM_000128.3(F11):c.1103G>C (p.Gly368Ala) rs748926718
NM_000128.3(F11):c.1106A>G (p.Tyr369Cys)
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1118T>C (p.Leu373Ser)
NM_000128.3(F11):c.1120T>C (p.Cys374Arg)
NM_000128.3(F11):c.1135+5G>A rs758515608
NM_000128.3(F11):c.1136-7_1136-4del rs1439195599
NM_000128.3(F11):c.1137G>C (p.Glu379Asp)
NM_000128.3(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.3(F11):c.1186C>T (p.Arg396Cys) rs771896253
NM_000128.3(F11):c.1191T>C (p.Gly397=) rs5970
NM_000128.3(F11):c.1192G>A (p.Glu398Lys)
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.1200G>A (p.Pro400=) rs150377265
NM_000128.3(F11):c.1207G>A (p.Val403Met) rs281875266
NM_000128.3(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.3(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.3(F11):c.1232_1235del (p.Thr411fs) rs1057517446
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.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.3(F11):c.1275G>C (p.Trp425Cys) rs533626812
NM_000128.3(F11):c.1283C>T (p.Thr428Ile) rs1554083516
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.1304+25_1304+28delAGTT rs778294619
NM_000128.3(F11):c.1305-1G>A rs1057517204
NM_000128.3(F11):c.1305-5C>T
NM_000128.3(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1328G>A (p.Arg443His)
NM_000128.3(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.3(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.3(F11):c.1376_1379CTTT[1] (p.Phe460fs) rs1554083736
NM_000128.3(F11):c.1378T>G (p.Phe460Val) rs121965065
NM_000128.3(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.3(F11):c.1431C>T (p.Ser477=) rs149568223
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.3(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.3(F11):c.1480+2T>C rs1554083758
NM_000128.3(F11):c.1481-1G>C rs1057516506
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.1517A>G (p.Asp506Gly) rs281875258
NM_000128.3(F11):c.1546G>A (p.Val516Met) rs200622588
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.3(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.3(F11):c.1613C>T (p.Pro538Leu) rs139695003
NM_000128.3(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.3(F11):c.1627G>A (p.Glu543Lys) rs142952627
NM_000128.3(F11):c.1646A>G (p.Tyr549Cys)
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.1699G>A (p.Gly567Arg)
NM_000128.3(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.3(F11):c.1707C>T (p.Asp569=) rs5975
NM_000128.3(F11):c.1716+1G>A rs373297713
NM_000128.3(F11):c.1718G>A (p.Gly573Glu) rs754109115
NM_000128.3(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.3(F11):c.1724C>T (p.Ser575Leu) rs281875250
NM_000128.3(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.3(F11):c.1751A>T (p.Asn584Ile)
NM_000128.3(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.3(F11):c.1772G>C (p.Gly591Ala)
NM_000128.3(F11):c.1778C>T (p.Thr593Met) rs145906668
NM_000128.3(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.3(F11):c.1789G>A (p.Glu597Lys) rs281875251
NM_000128.3(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.3(F11):c.1812G>T (p.Arg604=) rs5971
NM_000128.3(F11):c.1839G>A (p.Glu613=) rs5976
NM_000128.3(F11):c.188C>T (p.Ala63Val) rs281875244
NM_000128.3(F11):c.218+1G>A rs1057516738
NM_000128.3(F11):c.218+4A>G rs767240420
NM_000128.3(F11):c.219-11T>A rs886059298
NM_000128.3(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.3(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.3(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.3(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.325+5G>T rs372102736
NM_000128.3(F11):c.325G>A (p.Ala109Thr) rs768474112
NM_000128.3(F11):c.326-1G>A rs1057517364
NM_000128.3(F11):c.343del (p.Tyr115fs)
NM_000128.3(F11):c.345T>C (p.Tyr115=) rs766137229
NM_000128.3(F11):c.359T>C (p.Met120Thr)
NM_000128.3(F11):c.365G>A (p.Gly122Asp)
NM_000128.3(F11):c.374A>G (p.Tyr125Cys) rs1554082187
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.403G>T (p.Glu135Ter) rs121965063
NM_000128.3(F11):c.408C>A (p.Cys136Ter) rs143648758
NM_000128.3(F11):c.422C>T (p.Thr141Met) rs200593979
NM_000128.3(F11):c.429C>T (p.Asp143=) rs5973
NM_000128.3(F11):c.438C>A (p.Cys146Ter) rs121965066
NM_000128.3(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.3(F11):c.478G>T (p.Glu160Ter) rs376961859
NM_000128.3(F11):c.484C>T (p.Arg162Cys) rs748139184
NM_000128.3(F11):c.486-2A>G rs1057516695
NM_000128.3(F11):c.499C>T (p.Leu167=) rs374761594
NM_000128.3(F11):c.55+6delinsGAG rs1554081299
NM_000128.3(F11):c.596-7_600del rs1057517116
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.634G>A (p.Asp212Asn)
NM_000128.3(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.3(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.680G>A (p.Gly227Asp) rs1489595409
NM_000128.3(F11):c.682C>T (p.Arg228Ter) rs752907087
NM_000128.3(F11):c.683G>A (p.Arg228Gln) rs281875246
NM_000128.3(F11):c.723C>G (p.Phe241Leu) rs281875265
NM_000128.3(F11):c.728C>T (p.Ser243Phe)
NM_000128.3(F11):c.730C>T (p.Gln244Ter) rs747702749
NM_000128.3(F11):c.731A>G (p.Gln244Arg)
NM_000128.3(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.3(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.3(F11):c.783G>C (p.Glu261Asp) rs201079681
NM_000128.3(F11):c.801A>G (p.Thr267=) rs5974
NM_000128.3(F11):c.802C>T (p.Arg268Cys)
NM_000128.3(F11):c.803G>A (p.Arg268His) rs201688862
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.865+1G>C rs1349655563
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.3(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.3(F11):c.943G>A (p.Glu315Lys) rs281875257
NM_000128.3(F11):c.959_960TG[1] (p.Cys321fs) rs786204449
NM_000128.3(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.3(F11):c.976C>T (p.Arg326Cys) rs28934608
NM_000128.3(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000128.3(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.3(F11):c.990dup (p.Thr331fs) rs1554082938
NM_000128.3:c.1029-2A>G
NM_000129.3(F13A1):c.*1030G>T rs548323382
NM_000129.3(F13A1):c.*112G>T rs3024463
NM_000129.3(F13A1):c.*1167T>G rs886061655
NM_000129.3(F13A1):c.*126T>C rs1050782
NM_000129.3(F13A1):c.*160G>A rs1050783
NM_000129.3(F13A1):c.*221G>A rs3024464
NM_000129.3(F13A1):c.*270C>T rs568780978
NM_000129.3(F13A1):c.*417G>T rs886061658
NM_000129.3(F13A1):c.*42G>A rs886061659
NM_000129.3(F13A1):c.*443G>A rs3024486
NM_000129.3(F13A1):c.*587G>A rs75981686
NM_000129.3(F13A1):c.*619C>T rs191569585
NM_000129.3(F13A1):c.*627G>A rs886061657
NM_000129.3(F13A1):c.*628G>A rs886061656
NM_000129.3(F13A1):c.*67C>T rs182425546
NM_000129.3(F13A1):c.*743G>A rs12862
NM_000129.3(F13A1):c.*89A>G rs3024462
NM_000129.3(F13A1):c.*927G>A rs746364189
NM_000129.3(F13A1):c.*945T>C rs774737661
NM_000129.3(F13A1):c.*995G>T rs3024466
NM_000129.3(F13A1):c.-18-5dup rs750373197
NM_000129.3(F13A1):c.-19+12= rs2815822
NM_000129.3(F13A1):c.-19+12A>C rs2815822
NM_000129.3(F13A1):c.-28G>A rs886061662
NM_000129.3(F13A1):c.102C>T (p.Gly34=) rs187027323
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000129.3(F13A1):c.1112+11T>C rs758486753
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.1352_1353del (p.His451fs) rs1561645895
NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg) rs121913068
NM_000129.3(F13A1):c.160T>A (p.Phe54Ile) rs138690353
NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg) rs121913069
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) rs5982
NM_000129.3(F13A1):c.1704A>G (p.Glu568=) rs5986
NM_000129.3(F13A1):c.1731G>C (p.Thr577=) rs137945179
NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser)
NM_000129.3(F13A1):c.1804C>T (p.Gln602Ter)
NM_000129.3(F13A1):c.1817del (p.His606fs) rs1561641262
NM_000129.3(F13A1):c.183C>A (p.Asn61Lys) rs121913067
NM_000129.3(F13A1):c.1860G>C (p.Leu620=) rs138943514
NM_000129.3(F13A1):c.1951G>A (p.Val651Ile) rs5987
NM_000129.3(F13A1):c.1954G>C (p.Glu652Gln) rs5988
NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) rs267606789
NM_000129.3(F13A1):c.2029A>G (p.Met677Val) rs371964182
NM_000129.3(F13A1):c.2045G>A (p.Arg682His) rs121913064
NM_000129.3(F13A1):c.2067C>T (p.Thr689=) rs750971578
NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000129.3(F13A1):c.233G>T (p.Arg78Leu)
NM_000129.3(F13A1):c.327C>T (p.Tyr109=) rs886061661
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.799-13C>T rs188094485
NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys) rs121913074
NM_000129.3(F13A1):c.888C>G (p.Ser296Arg)
NM_000129.3(F13A1):c.889G>A (p.Val297Ile) rs199564311
NM_000129.3(F13A1):c.949G>T (p.Val317Phe) rs121913073
NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) rs121913072
NM_000129.3(F13A1):c.990A>T (p.Gly330=) rs886061660
NM_000129.3(F13A1):c.996A>C (p.Pro332=) rs5981
NM_000129.3:c.603_606delAAGA
NM_000129.3:c.691-1G>A
NM_000130.4(F5):c.*104A>C rs886045540
NM_000130.4(F5):c.*1115C>T rs2040444
NM_000130.4(F5):c.*1118G>A rs9332675
NM_000130.4(F5):c.*1170G>A rs191866237
NM_000130.4(F5):c.*1246C>T rs9332676
NM_000130.4(F5):c.*1290G>A rs9332677
NM_000130.4(F5):c.*1432C>T rs886045536
NM_000130.4(F5):c.*1436T>A rs9332678
NM_000130.4(F5):c.*1488T>C rs75764442
NM_000130.4(F5):c.*149C>G rs534748300
NM_000130.4(F5):c.*157A>T rs886045539
NM_000130.4(F5):c.*1601C>T rs2187952
NM_000130.4(F5):c.*1780G>T rs559071301
NM_000130.4(F5):c.*1820A>C rs72708013
NM_000130.4(F5):c.*1939T>C rs886045535
NM_000130.4(F5):c.*2053G>C rs886045534
NM_000130.4(F5):c.*216T>A rs186962725
NM_000130.4(F5):c.*2328G>C rs6427196
NM_000130.4(F5):c.*363T>G rs115882472
NM_000130.4(F5):c.*390C>T rs886045538
NM_000130.4(F5):c.*396C>A rs181328696
NM_000130.4(F5):c.*400C>G rs886045537
NM_000130.4(F5):c.*441C>T rs188490117
NM_000130.4(F5):c.*476C>T rs72708017
NM_000130.4(F5):c.*581C>A rs180742904
NM_000130.4(F5):c.*598T>G rs544753372
NM_000130.4(F5):c.*762G>A rs753366128
NM_000130.4(F5):c.*838T>C rs376103455
NM_000130.4(F5):c.*873C>T rs9332673
NM_000130.4(F5):c.*891A>G rs9332674
NM_000130.4(F5):c.-110C>A rs886045552
NM_000130.4(F5):c.-40T>C rs41272465
NM_000130.4(F5):c.-84G>A rs543172813
NM_000130.4(F5):c.1001G>C (p.Arg334Thr) rs118203906
NM_000130.4(F5):c.1034G>A (p.Arg345Gln) rs201078171
NM_000130.4(F5):c.1106C>T (p.Ala369Val) rs200934105
NM_000130.4(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.4(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.4(F5):c.1238T>C (p.Met413Thr) rs6033
NM_000130.4(F5):c.1242A>G (p.Lys414=) rs6035
NM_000130.4(F5):c.1297-2A>G
NM_000130.4(F5):c.1300G>A (p.Val434Met) rs574610215
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.1380C>T (p.Asn460=) rs6015
NM_000130.4(F5):c.1391C>T (p.Thr464Ile) rs141768227
NM_000130.4(F5):c.1498T>G (p.Cys500Gly)
NM_000130.4(F5):c.1538G>A (p.Arg513Lys) rs6020
NM_000130.4(F5):c.1545C>T (p.Ile515=) rs886045551
NM_000130.4(F5):c.158+13T>C rs116416322
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.4(F5):c.1624A>G (p.Ile542Val) rs776949074
NM_000130.4(F5):c.1659G>A (p.Glu553=) rs370739570
NM_000130.4(F5):c.165T>C (p.Asn55=) rs781434840
NM_000130.4(F5):c.1671G>C (p.Trp557Cys)
NM_000130.4(F5):c.1674C>A
NM_000130.4(F5):c.1716G>A (p.Glu572=) rs6036
NM_000130.4(F5):c.1785G>A (p.Glu595=) rs112333778
NM_000130.4(F5):c.1830_1831dup (p.His611fs)
NM_000130.4(F5):c.1926C>A (p.Thr642=) rs6037
NM_000130.4(F5):c.1975G>A (p.Gly659Arg)
NM_000130.4(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.4(F5):c.2208C>T (p.Ile736=) rs6016
NM_000130.4(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.4(F5):c.2222A>G (p.Asn741Ser) rs144979314
NM_000130.4(F5):c.2235T>C (p.Asn745=) rs6017
NM_000130.4(F5):c.2241_2243AGA[2] (p.Glu750del) rs575766548
NM_000130.4(F5):c.2289A>G (p.Glu763=) rs6024
NM_000130.4(F5):c.2301A>G (p.Ser767=) rs6021
NM_000130.4(F5):c.237A>G (p.Gln79=) rs6028
NM_000130.4(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.4(F5):c.2425C>T (p.Pro809Ser) rs6031
NM_000130.4(F5):c.2450A>C (p.Asn817Thr) rs6018
NM_000130.4(F5):c.2539del (p.Ile847fs)
NM_000130.4(F5):c.2573A>G (p.Lys858Arg) rs4524
NM_000130.4(F5):c.2594A>G (p.His865Arg) rs4525
NM_000130.4(F5):c.2743A>T (p.Thr915Ser) rs9332695
NM_000130.4(F5):c.2773A>G (p.Lys925Glu) rs6032
NM_000130.4(F5):c.2862del (p.Ser955fs)
NM_000130.4(F5):c.2864G>T (p.Ser955Ile) rs199507543
NM_000130.4(F5):c.2868T>C (p.Tyr956=) rs149067268
NM_000130.4(F5):c.2906A>G (p.Asn969Ser) rs9332604
NM_000130.4(F5):c.2925C>T (p.Pro975=) rs41272457
NM_000130.4(F5):c.3170_3174del (p.Asn1057fs)
NM_000130.4(F5):c.319G>C (p.Asp107His) rs6019
NM_000130.4(F5):c.3211C>T (p.His1071Tyr) rs146408488
NM_000130.4(F5):c.3255A>C (p.Thr1085=) rs6006
NM_000130.4(F5):c.3261C>G (p.Pro1087=) rs886045549
NM_000130.4(F5):c.3307A>T (p.Asn1103Tyr) rs886045548
NM_000130.4(F5):c.3311C>A (p.Ser1104Tyr) rs188882337
NM_000130.4(F5):c.333C>A (p.Ser111Arg)
NM_000130.4(F5):c.3402C>A (p.Asp1134Glu) rs373880789
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3442T>C (p.Ser1148Pro) rs369276714
NM_000130.4(F5):c.3455A>C (p.Glu1152Ala) rs543751483
NM_000130.4(F5):c.3481C>T (p.Arg1161Ter) rs118203909
NM_000130.4(F5):c.3504A>C (p.Thr1168=) rs13306332
NM_000130.4(F5):c.358A>G (p.Ser120Gly)
NM_000130.4(F5):c.3801T>C (p.Leu1267=) rs559683767
NM_000130.4(F5):c.3804T>C (p.Ser1268=) rs1800594
NM_000130.4(F5):c.3851C>T (p.Thr1284Ile) rs139573207
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.3948C>T (p.Leu1316=) rs9287090
NM_000130.4(F5):c.3949G>A (p.Gly1317Ser) rs149048805
NM_000130.4(F5):c.3980A>G (p.His1327Arg) rs1800595
NM_000130.4(F5):c.4035A>G (p.Gln1345=) rs886045547
NM_000130.4(F5):c.405G>A (p.Ala135=) rs6029
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.4189C>T (p.Leu1397Phe) rs13306334
NM_000130.4(F5):c.4210C>T (p.Pro1404Ser) rs9332608
NM_000130.4(F5):c.4309A>T (p.Thr1437Ser) rs115148599
NM_000130.4(F5):c.4333A>G (p.Thr1445Ala) rs200204656
NM_000130.4(F5):c.4356C>A (p.Ser1452Arg) rs751749207
NM_000130.4(F5):c.437G>A (p.Arg146Gln) rs145625079
NM_000130.4(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000130.4(F5):c.43G>A (p.Gly15Ser) rs9332485
NM_000130.4(F5):c.4405T>C (p.Ser1469Pro) rs144262027
NM_000130.4(F5):c.4633C>A (p.Pro1545Thr)
NM_000130.4(F5):c.4744T>A (p.Tyr1582Asn)
NM_000130.4(F5):c.4835A>T (p.Asp1612Val) rs141589936
NM_000130.4(F5):c.4959T>A (p.Asp1653Glu) rs886045546
NM_000130.4(F5):c.4972-14A>C rs763080313
NM_000130.4(F5):c.5022A>G (p.Gly1674=) rs6010
NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) rs6011
NM_000130.4(F5):c.5124C>T (p.Tyr1708=) rs199568344
NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys) rs118203907
NM_000130.4(F5):c.5209-12_5209-11delCT rs886045545
NM_000130.4(F5):c.524A>G (p.His175Arg) rs201510575
NM_000130.4(F5):c.5265A>G (p.Ile1755Met)
NM_000130.4(F5):c.5290A>G (p.Met1764Val) rs6030
NM_000130.4(F5):c.5308G>A (p.Val1770Ile) rs374815777
NM_000130.4(F5):c.5332G>C (p.Glu1778Gln) rs886045544
NM_000130.4(F5):c.5365C>T (p.Arg1789Ter)
NM_000130.4(F5):c.538G>A (p.Glu180Lys) rs143152035
NM_000130.4(F5):c.5408A>G (p.His1803Arg)
NM_000130.4(F5):c.5419+11C>G rs6008
NM_000130.4(F5):c.5419+11C>T rs6008
NM_000130.4(F5):c.5419+12A>G rs6009
NM_000130.4(F5):c.5460G>A (p.Met1820Ile) rs6026
NM_000130.4(F5):c.5490G>A (p.Leu1830=) rs149092241
NM_000130.4(F5):c.552G>T (p.Ser184=) rs6022
NM_000130.4(F5):c.5534A>G (p.His1845Arg) rs200865371
NM_000130.4(F5):c.5558G>T (p.Gly1853Val) rs182566496
NM_000130.4(F5):c.5589C>A (p.Pro1863=) rs148772659
NM_000130.4(F5):c.5646G>A (p.Trp1882Ter) rs1557908012
NM_000130.4(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.4(F5):c.5721T>C (p.Cys1907=) rs886045543
NM_000130.4(F5):c.5788+4A>T rs759428783
NM_000130.4(F5):c.6164G>A (p.Arg2055Gln) rs886045542
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000130.4(F5):c.6309G>A (p.Leu2103=) rs35369423
NM_000130.4(F5):c.6360G>A (p.Lys2120=) rs757104503
NM_000130.4(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000130.4(F5):c.6459T>C (p.Tyr2153=) rs773618429
NM_000130.4(F5):c.6589A>G (p.Ile2197Val) rs372005449
NM_000130.4(F5):c.6629A>T (p.Gln2210Leu) rs886045541
NM_000130.4(F5):c.6665A>G (p.Asp2222Gly) rs6027
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.4(F5):c.738A>G (p.Thr246=) rs375739973
NM_000130.4(F5):c.773T>C (p.Leu258Pro)
NM_000130.4(F5):c.816C>T (p.Asn272=) rs9332578
NM_000130.4(F5):c.885C>T (p.Thr295=) rs148752831
NM_000130.4(F5):c.886G>A (p.Ala296Thr) rs748350385
NM_000130.4(F5):c.911G>A (p.Gly304Glu)
NM_000130.4(F5):c.936C>T (p.Thr312=) rs758832130
NM_000130.4(F5):c.996A>C (p.Lys332Asn)
NM_000131.4(F7):c.*1054C>A rs546634569
NM_000131.4(F7):c.*1057C>T rs141219406
NM_000131.4(F7):c.*1077del rs886050000
NM_000131.4(F7):c.*1146A>G rs3093255
NM_000131.4(F7):c.*1240C>G rs3093256
NM_000131.4(F7):c.*1275A>G rs3093257
NM_000131.4(F7):c.*1475G>A rs3093258
NM_000131.4(F7):c.*1500_*1503del rs539395699
NM_000131.4(F7):c.*1614A>C rs577978392
NM_000131.4(F7):c.*1649G>A rs3093259
NM_000131.4(F7):c.*275G>A rs886049988
NM_000131.4(F7):c.*284C>T rs750831181
NM_000131.4(F7):c.*285G>A rs577927838
NM_000131.4(F7):c.*294A>C rs886049989
NM_000131.4(F7):c.*340T>C rs545497651
NM_000131.4(F7):c.*410C>T rs139474305
NM_000131.4(F7):c.*425C>T rs886049990
NM_000131.4(F7):c.*499G>A rs575689457
NM_000131.4(F7):c.*533A>C rs116688254
NM_000131.4(F7):c.*543A>G rs886049991
NM_000131.4(F7):c.*561_*562AT[1] rs886049992
NM_000131.4(F7):c.*582C>T rs886049993
NM_000131.4(F7):c.*605G>A rs144204350
NM_000131.4(F7):c.*620C>T rs151109093
NM_000131.4(F7):c.*628_*630del rs747160994
NM_000131.4(F7):c.*639G>A rs3093250
NM_000131.4(F7):c.*672_*673CA[3] rs886049995
NM_000131.4(F7):c.*673A>G rs3093251
NM_000131.4(F7):c.*703_*704AC[3] rs3093252
NM_000131.4(F7):c.*71T>A rs143748941
NM_000131.4(F7):c.*756_*770delinsCCA rs886049997
NM_000131.4(F7):c.*770G>A rs3093253
NM_000131.4(F7):c.*82T>C rs368359845
NM_000131.4(F7):c.*846_*850CTTCA[1] rs886049998
NM_000131.4(F7):c.*888G>A rs79733913
NM_000131.4(F7):c.*909C>T rs886049999
NM_000131.4(F7):c.*991G>A rs3093254
NM_000131.4(F7):c.-27C>T rs886049985
NM_000131.4(F7):c.-30A>C
NM_000131.4(F7):c.-55C>T
NM_000131.4(F7):c.-61T>G
NM_000131.4(F7):c.1003T>C (p.Phe335Leu) rs762858015
NM_000131.4(F7):c.1027G>A (p.Gly343Ser)
NM_000131.4(F7):c.1054G>A (p.Ala352Thr) rs3093267
NM_000131.4(F7):c.1061C>T (p.Ala354Val) rs36209567
NM_000131.4(F7):c.108G>A (p.Pro36=) rs3093238
NM_000131.4(F7):c.1091G>A (p.Arg364Gln) rs121964926
NM_000131.4(F7):c.1109G>T (p.Cys370Phe) rs121964927
NM_000131.4(F7):c.1114C>T (p.Gln372Ter)
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.1238G>A (p.Arg413Gln) rs6046
NM_000131.4(F7):c.1285G>A (p.Ala429Thr) rs755377592
NM_000131.4(F7):c.130+11A>T rs886049986
NM_000131.4(F7):c.1391del (p.Pro464fs)
NM_000131.4(F7):c.169C>A (p.Arg57=) rs886049987
NM_000131.4(F7):c.215C>G (p.Ser72Cys)
NM_000131.4(F7):c.218T>A (p.Leu73Gln)
NM_000131.4(F7):c.283G>A (p.Glu95Lys)
NM_000131.4(F7):c.285G>A (p.Glu95=) rs36208758
NM_000131.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_000131.4(F7):c.430+1G>A
NM_000131.4(F7):c.479A>G (p.Gln160Arg) rs200016360
NM_000131.4(F7):c.509G>A (p.Arg170His)
NM_000131.4(F7):c.525C>T (p.His175=) rs6042
NM_000131.4(F7):c.628C>T (p.Gln210Ter) rs267606790
NM_000131.4(F7):c.64+8C>T rs10482844
NM_000131.4(F7):c.64+9G>A rs6039
NM_000131.4(F7):c.681+1G>T
NM_000131.4(F7):c.682-11C>A rs750680622
NM_000131.4(F7):c.722C>A (p.Thr241Asn)
NM_000131.4(F7):c.805+3_805+6del rs754785708
NM_000131.4(F7):c.805+5G>A
NM_000131.4(F7):c.805+7_805+43del
NM_000131.4(F7):c.817_831del (p.Leu273_Asp277del)
NM_000131.4(F7):c.849_865del (p.Arg284fs) rs786205091
NM_000131.4(F7):c.879G>A (p.Thr293=) rs148965964
NM_000131.4(F7):c.911C>T (p.Ala304Val)
NM_000131.4(F7):c.983T>C (p.Phe328Ser) rs387906508
NM_000131.4(F7):c.996G>A (p.Thr332=) rs202240468
NM_000132.2:c.*8899A>G
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.1034T>C (p.Val345Ala)
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.1073dup (p.Asn358fs)
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.1093T>C (p.Tyr365His)
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.143G>A (p.Arg48Lys)
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.1654T>C (p.Tyr552His)
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.1700T>C (p.Ile567Thr)
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.1748A>G (p.Asn583Ser) rs782657516
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.1894del (p.Ile632fs)
NM_000132.3(F8):c.1898T>G (p.Met633Arg)
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.2099C>T (p.Ser700Leu)
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.3144G>A (p.Trp1048Ter) rs1060499784
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.3245_3246AT[1] (p.Met1083fs)
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.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.3(F8):c.3864A>C (p.Ser1288=) rs1800292
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.3980C>T (p.Thr1327Met)
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.4313dup (p.Ser1439fs)
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.460A>C (p.Thr154Pro)
NM_000132.3(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
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.5164G>A (p.Val1722Met)
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.5217C>T (p.Asn1739=)
NM_000132.3(F8):c.5219+2T>C
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.558C>A (p.Asp186Glu)
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.5896A>C (p.Met1966Leu)
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.6437T>C (p.Phe2146Ser)
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.6592G>A (p.Gly2198Arg)
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
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.671-50_787+50del
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000132.3(F8):c.6776T>A (p.Val2259Asp)
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.6920A>C (p.Asp2307Ala)
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.733C>T (p.Arg245Trp)
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.926C>T (p.Pro309Leu)
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.984T>G
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.1095A>G (p.Ser365=) rs112057482
NM_000133.3(F9):c.1106T>C (p.Leu369Pro)
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.1148T>C (p.Leu383Pro) rs1387119011
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.1345C>T (p.Arg449Trp)
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.1381A>C (p.Thr461Pro) rs4149751
NM_000133.3(F9):c.141T>A (p.Tyr47Ter) rs1556435929
NM_000133.3(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.3(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.3(F9):c.19A>T (p.Ile7Phe) rs150190385
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.280G>A (p.Gly94Arg) rs1556437035
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.391+10T>G rs375734226
NM_000133.3(F9):c.391+7A>G rs6049
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.519dup (p.Val174fs) rs1556006174
NM_000133.3(F9):c.520+13A>G
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.756T>G (p.Cys252Trp) rs1556008316
NM_000133.3(F9):c.757G>A (p.Gly253Arg)
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000133.3(F9):c.79G>A (p.Glu27Lys) rs387906475
NM_000133.3(F9):c.802T>A (p.Cys268Ser)
NM_000133.3(F9):c.804T>G (p.Cys268Trp) rs137852246
NM_000133.3(F9):c.819T>C (p.Val273=) rs1800455
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.845A>G (p.His282Arg)
NM_000133.3(F9):c.872A>T (p.Glu291Val) rs137852279
NM_000133.3(F9):c.88+1G>A
NM_000133.3(F9):c.88+5G>T
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.960A>C (p.Glu320Asp)
NM_000133.3(F9):c.998C>T (p.Pro333Leu) rs137852252
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala)
NM_000301.3(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_000301.3(PLG):c.1217C>A (p.Pro406Gln)
NM_000301.3(PLG):c.1435G>T (p.Glu479Ter) rs121918032
NM_000301.3(PLG):c.1469G>A (p.Arg490Gln) rs140537724
NM_000301.3(PLG):c.1848G>A (p.Trp616Ter) rs121918031
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000301.3(PLG):c.2125+1del rs606231210
NM_000301.3(PLG):c.2278A>G (p.Ser760Gly)
NM_000301.3(PLG):c.687_689GAA[2] (p.Lys231del) rs121918034
NM_000301.3(PLG):c.704G>A (p.Arg235His) rs121918030
NM_000301.3(PLG):c.950+4A>G
NM_000361.2(THBD):c.-151G>T rs16984852
NM_000361.2(THBD):c.1209G>T (p.Arg403Ser) rs398122807
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000361.2(THBD):c.683C>T (p.Pro228Leu) rs375011249
NM_000504.4(F10):c.-40C>T rs3212994
NM_000504.4(F10):c.1043G>A (p.Trp348Ter) rs1566922655
NM_000504.4(F10):c.1087G>A (p.Gly363Ser)
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.1210T>C (p.Cys404Arg)
NM_000504.4(F10):c.1215C>T (p.Ala405=) rs770904651
NM_000504.4(F10):c.1226C>T (p.Thr409Ile) rs775241064
NM_000504.4(F10):c.1237G>A (p.Asp413Asn)
NM_000504.4(F10):c.1321G>A (p.Glu441Lys)
NM_000504.4(F10):c.1348G>A (p.Gly450Arg)
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
NM_000504.4(F10):c.161A>G (p.Glu54Gly)
NM_000504.4(F10):c.241T>G (p.Trp81Gly)
NM_000504.4(F10):c.257-12C>T rs372691873
NM_000504.4(F10):c.348C>T (p.Phe116=) rs747030511
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184
NM_000504.4(F10):c.399C>T (p.Asn133=) rs5962
NM_000504.4(F10):c.400G>A (p.Gly134Arg)
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.535C>T (p.Arg179Cys)
NM_000504.4(F10):c.574G>A (p.Gly192Arg) rs3211783
NM_000504.4(F10):c.57G>A (p.Leu19=) rs370154986
NM_000504.4(F10):c.584C>G (p.Pro195Arg) rs886050002
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718
NM_000504.4(F10):c.633C>G (p.Thr211=) rs140852978
NM_000504.4(F10):c.702G>C (p.Arg234Ser)
NM_000504.4(F10):c.747+11G>A rs376728587
NM_000504.4(F10):c.792C>T (p.Thr264=) rs5960
NM_000504.4(F10):c.7C>T (p.Arg3Cys) rs149972574
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000504.4(F10):c.872G>A (p.Arg291Gln) rs149212700
NM_000504.4(F10):c.878C>T (p.Thr293Met) rs752412971
NM_000504.4(F10):c.90G>C (p.Gln30His) rs5961
NM_000505.3(F12):c.-25G>A rs886060472
NM_000505.3(F12):c.-3G>A rs201346142
NM_000505.3(F12):c.-4T>C rs1801020
NM_000505.3(F12):c.-57G>C rs41309132
NM_000505.3(F12):c.-62C>T rs187018744
NM_000505.3(F12):c.-8C>T rs369991760
NM_000505.3(F12):c.1018+12G>C rs758462343
NM_000505.3(F12):c.1018+13G>C rs552424629
NM_000505.3(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000505.3(F12):c.1107G>C (p.Ser369=) rs141473119
NM_000505.3(F12):c.1212C>G (p.Pro404=) rs756802257
NM_000505.3(F12):c.1251-12C>A rs747726864
NM_000505.3(F12):c.1251-7C>T rs375340260
NM_000505.3(F12):c.1251-9C>T rs17876032
NM_000505.3(F12):c.1272G>C (p.Thr424=) rs61737766
NM_000505.3(F12):c.1299C>T (p.Asn433=) rs17876033
NM_000505.3(F12):c.1342C>T (p.Arg448Cys) rs115119084
NM_000505.3(F12):c.158A>G (p.Tyr53Cys) rs118204455
NM_000505.3(F12):c.1681-1G>A rs199988476
NM_000505.3(F12):c.348C>A (p.Gly116=) rs140243617
NM_000505.3(F12):c.398-12C>T rs56285942
NM_000505.3(F12):c.418C>G (p.Leu140Val) rs35515200
NM_000505.3(F12):c.619G>C (p.Ala207Pro) rs17876030
NM_000505.3(F12):c.630C>T (p.Asp210=) rs886060471
NM_000505.3(F12):c.711C>T (p.Pro237=) rs17876047
NM_000505.3(F12):c.756C>T (p.Ala252=) rs41309752
NM_000505.3(F12):c.928A>T (p.Arg310Trp) rs749549919
NM_000505.3(F12):c.930G>C (p.Arg310Ser) rs77098327
NM_000505.3(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000506.4(F2):c.*97G>A rs1799963
NM_000506.4(F2):c.260A>G (p.Tyr87Cys)
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.*216C>T rs2066865
NM_000509.5(FGG):c.-130G>T rs749800940
NM_000509.5(FGG):c.-53A>G rs886059156
NM_000509.5(FGG):c.1237A>G (p.Ile413Val) rs886059154
NM_000509.5(FGG):c.1285G>T (p.Gly429Trp) rs145938787
NM_000509.5(FGG):c.19C>T (p.Pro7Ser) rs374845868
NM_000509.5(FGG):c.307+5G>A rs587776838
NM_000509.5(FGG):c.502A>G (p.Thr168Ala) rs141559764
NM_000509.5(FGG):c.667-10G>C rs886059155
NM_000509.5(FGG):c.667-320A>T rs587776839
NM_000552.4(VWF):c.-107C>G rs886049747
NM_000552.4(VWF):c.-131G>C rs886049748
NM_000552.4(VWF):c.-72C>T rs886049746
NM_000552.4(VWF):c.1001G>A (p.Gly334Glu)
NM_000552.4(VWF):c.1051G>A (p.Val351Met) rs535978867
NM_000552.4(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.4(VWF):c.1077C>T (p.Pro359=) rs71582884
NM_000552.4(VWF):c.1142A>G (p.Asn381Ser) rs886049745
NM_000552.4(VWF):c.114C>T (p.Phe38=) rs2229443
NM_000552.4(VWF):c.1173A>T (p.Thr391=) rs1800375
NM_000552.4(VWF):c.1182A>C (p.Ser394=) rs1800376
NM_000552.4(VWF):c.1293+2T>C
NM_000552.4(VWF):c.1339del (p.Arg447fs)
NM_000552.4(VWF):c.1411G>A (p.Val471Ile) rs1800377
NM_000552.4(VWF):c.1433-10T>C rs66722092
NM_000552.4(VWF):c.1451A>G (p.His484Arg) rs1800378
NM_000552.4(VWF):c.1463C>G (p.Ala488Gly)
NM_000552.4(VWF):c.1514G>A (p.Arg505His)
NM_000552.4(VWF):c.1548T>C (p.Tyr516=) rs1800379
NM_000552.4(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.4(VWF):c.1596C>T (p.Gly532=) rs111240043
NM_000552.4(VWF):c.1607T>C (p.Leu536Pro)
NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) rs141649383
NM_000552.4(VWF):c.1626G>A (p.Ala542=) rs35365059
NM_000552.4(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.4(VWF):c.1728G>T (p.Met576Ile) rs150146744
NM_000552.4(VWF):c.1730-18_1730-12del rs756282321
NM_000552.4(VWF):c.1730-5C>T rs569984866
NM_000552.4(VWF):c.1752C>T (p.Cys584=) rs748584672
NM_000552.4(VWF):c.1794C>T (p.Ala598=) rs35302737
NM_000552.4(VWF):c.182T>C (p.Leu61Pro)
NM_000552.4(VWF):c.1841C>T (p.Ser614Phe)
NM_000552.4(VWF):c.1862G>C (p.Cys621Ser) rs886049744
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000552.4(VWF):c.1945+15T>A rs71582861
NM_000552.4(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.4(VWF):c.1974C>G (p.Tyr658Ter)
NM_000552.4(VWF):c.2025G>A (p.Pro675=) rs779045480
NM_000552.4(VWF):c.2060G>A (p.Cys687Tyr)
NM_000552.4(VWF):c.2103C>T (p.Cys701=) rs78995469
NM_000552.4(VWF):c.221-10_532+52del
NM_000552.4(VWF):c.221-6_532+30del
NM_000552.4(VWF):c.2220G>A (p.Met740Ile) rs2228317
NM_000552.4(VWF):c.2279G>A (p.Arg760His) rs61748467
NM_000552.4(VWF):c.2281+13C>T rs183077797
NM_000552.4(VWF):c.2289G>A (p.Arg763=) rs886049743
NM_000552.4(VWF):c.2299T>C (p.Cys767Arg)
NM_000552.4(VWF):c.2303G>A (p.Arg768Gln) rs772203447
NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) rs1063856
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.2385T>C (p.Tyr795=) rs1063857
NM_000552.4(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.4(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.4(VWF):c.2443-1G>C rs61748480
NM_000552.4(VWF):c.2446C>T (p.Arg816Trp) rs121964894
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000552.4(VWF):c.250C>T (p.Leu84Phe) rs372664002
NM_000552.4(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.4(VWF):c.2547-5C>T rs373203368
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.2570A>G (p.Asn857Ser) rs765163545
NM_000552.4(VWF):c.2649_2650insTTTG (p.Leu884fs)
NM_000552.4(VWF):c.2686-7T>G
NM_000552.4(VWF):c.2880G>A (p.Arg960=) rs1800380
NM_000552.4(VWF):c.2921G>A (p.Trp974Ter)
NM_000552.4(VWF):c.2981G>A (p.Gly994Asp)
NM_000552.4(VWF):c.3108+5G>A rs61748495
NM_000552.4(VWF):c.3162G>C (p.Thr1054=) rs754421736
NM_000552.4(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.4(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.4(VWF):c.3240T>C (p.Tyr1080=) rs4021576
NM_000552.4(VWF):c.3251G>A (p.Cys1084Tyr)
NM_000552.4(VWF):c.3258C>T (p.Tyr1086=) rs112634786
NM_000552.4(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.4(VWF):c.3379+12C>T rs374393996
NM_000552.4(VWF):c.3379+13G>A rs2885752
NM_000552.4(VWF):c.3379+1G>A rs2363337
NM_000552.4(VWF):c.3379+7A>C rs113446850
NM_000552.4(VWF):c.3390C>T (p.Cys1130=)
NM_000552.4(VWF):c.3414C>T (p.Asn1138=) rs560397436
NM_000552.4(VWF):c.3426T>C (p.Cys1142=) rs535693463
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.3467C>T (p.Thr1156Met) rs267607328
NM_000552.4(VWF):c.3485C>T (p.Pro1162Leu) rs566672558
NM_000552.4(VWF):c.3486A>G (p.Pro1162=) rs546732699
NM_000552.4(VWF):c.3538+6G>T rs886049742
NM_000552.4(VWF):c.3539-15A>G rs748934603
NM_000552.4(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.4(VWF):c.3569G>A (p.Cys1190Tyr)
NM_000552.4(VWF):c.3579T>C (p.Pro1193=) rs16933969
NM_000552.4(VWF):c.3613C>T (p.Arg1205Cys) rs373787920
NM_000552.4(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.4(VWF):c.3675-1G>A
NM_000552.4(VWF):c.3719C>T (p.Pro1240Leu) rs150576611
NM_000552.4(VWF):c.3720G>A (p.Pro1240=) rs141792415
NM_000552.4(VWF):c.3795G>A (p.Pro1265=) rs2228319
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.3835G>A (p.Val1279Ile) rs61749376
NM_000552.4(VWF):c.3842T>C (p.Leu1281Pro)
NM_000552.4(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.4(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.4(VWF):c.390C>T (p.Ser130=) rs2229444
NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.4(VWF):c.391G>A (p.Gly131Ser) rs76505074
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.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.4(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.4(VWF):c.3952G>A (p.Val1318Met) rs372028373
NM_000552.4(VWF):c.3962A>G (p.Tyr1321Cys)
NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser) rs61749398
NM_000552.4(VWF):c.4007G>A (p.Arg1336Gln) rs886049741
NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.4(VWF):c.4027A>G (p.Ile1343Val) rs150923481
NM_000552.4(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.4(VWF):c.4103T>C (p.Ile1368Thr) rs199675425
NM_000552.4(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.4(VWF):c.4105T>C (p.Phe1369Leu)
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.4138A>G (p.Ile1380Val) rs11063988
NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) rs216311
NM_000552.4(VWF):c.4146G>T (p.Leu1382=)
NM_000552.4(VWF):c.4195C>T (p.Arg1399Cys) rs61750077
NM_000552.4(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.4(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.4(VWF):c.4304A>G (p.Asn1435Ser) rs11063987
NM_000552.4(VWF):c.435C>G (p.Asn145Lys)
NM_000552.4(VWF):c.4360G>A (p.Val1454Ile)
NM_000552.4(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.4(VWF):c.4457C>T (p.Ser1486Leu)
NM_000552.4(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.4(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.4(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.4(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.4(VWF):c.4622A>G (p.Gln1541Arg)
NM_000552.4(VWF):c.4637T>G (p.Val1546Gly)
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer)
NM_000552.4(VWF):c.4665A>C (p.Ala1555=) rs1800384
NM_000552.4(VWF):c.4693G>T (p.Val1565Leu) rs1800385
NM_000552.4(VWF):c.4727C>A (p.Thr1576Asn)
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.4834G>C (p.Ala1612Pro)
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.4931G>A (p.Trp1644Ter)
NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter) rs61750595
NM_000552.4(VWF):c.5049A>C (p.Ala1683=) rs79275181
NM_000552.4(VWF):c.50dup (p.Leu17fs)
NM_000552.4(VWF):c.5170+5G>A
NM_000552.4(VWF):c.5191T>A (p.Ser1731Thr) rs61750603
NM_000552.4(VWF):c.5277C>T (p.Asp1759=) rs41276736
NM_000552.4(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.4(VWF):c.533-48_657+52del
NM_000552.4(VWF):c.5347T>G (p.Ser1783Ala) rs267607353
NM_000552.4(VWF):c.5369C>T (p.Pro1790Leu) rs551649729
NM_000552.4(VWF):c.5471C>G (p.Pro1824Arg)
NM_000552.4(VWF):c.5493C>T (p.Tyr1831=) rs769268109
NM_000552.4(VWF):c.55+8C>A rs114713980
NM_000552.4(VWF):c.5533G>A (p.Asp1845Asn) rs201548925
NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) rs61750612
NM_000552.4(VWF):c.5620+10A>G rs886049740
NM_000552.4(VWF):c.5621-47_5842+51del
NM_000552.4(VWF):c.5664+15G>A rs7961539
NM_000552.4(VWF):c.5667C>T (p.Pro1889=) rs56981471
NM_000552.4(VWF):c.5668G>A (p.Gly1890Arg)
NM_000552.4(VWF):c.5785A>T (p.Asn1929Tyr) rs149799233
NM_000552.4(VWF):c.5801T>G (p.Val1934Gly)
NM_000552.4(VWF):c.5844C>T (p.Cys1948=) rs216902
NM_000552.4(VWF):c.5849G>A (p.Cys1950Tyr)
NM_000552.4(VWF):c.5851A>G (p.Thr1951Ala) rs144072210
NM_000552.4(VWF):c.5876T>G (p.Val1959Gly) rs886049739
NM_000552.4(VWF):c.6043G>A (p.Glu2015Lys) rs775806908
NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) rs61750615
NM_000552.4(VWF):c.6196A>G (p.Asn2066Asp) rs886049738
NM_000552.4(VWF):c.6314C>T (p.Thr2105Ile)
NM_000552.4(VWF):c.6345T>A (p.Thr2115=) rs11537642
NM_000552.4(VWF):c.6421G>A (p.Val2141Ile)
NM_000552.4(VWF):c.6433C>T (p.Pro2145Ser) rs61750618
NM_000552.4(VWF):c.6488G>A (p.Cys2163Tyr)
NM_000552.4(VWF):c.6538T>C (p.Tyr2180His)
NM_000552.4(VWF):c.6554G>A (p.Arg2185Gln) rs2229446
NM_000552.4(VWF):c.657+11A>C rs7980045
NM_000552.4(VWF):c.6572T>C (p.Val2191Ala) rs753731128
NM_000552.4(VWF):c.658-3C>A
NM_000552.4(VWF):c.6611C>T (p.Pro2204Leu) rs777556669
NM_000552.4(VWF):c.6756G>A (p.Glu2252=) rs71581020
NM_000552.4(VWF):c.6762C>G (p.Cys2254Trp)
NM_000552.4(VWF):c.6798+13G>A rs201509264
NM_000552.4(VWF):c.6798+14C>T rs7315124
NM_000552.4(VWF):c.6798+1G>T rs61750624
NM_000552.4(VWF):c.6798+5G>A
NM_000552.4(VWF):c.6798+6A>G
NM_000552.4(VWF):c.6799-14C>T rs177702
NM_000552.4(VWF):c.6846A>G (p.Thr2282=) rs1053523
NM_000552.4(VWF):c.6859C>T (p.Arg2287Trp) rs61750625
NM_000552.4(VWF):c.6902-5T>A rs112046757
NM_000552.4(VWF):c.6908C>T (p.Thr2303Met) rs149432685
NM_000552.4(VWF):c.6931C>T (p.Arg2311Cys) rs150725355
NM_000552.4(VWF):c.6976+11C>T rs751395078
NM_000552.4(VWF):c.7007C>T (p.Pro2336Leu) rs144769404
NM_000552.4(VWF):c.7056C>T (p.Gly2352=) rs746482504
NM_000552.4(VWF):c.7082-13G>C rs71581025
NM_000552.4(VWF):c.7082-7C>T rs216868
NM_000552.4(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.4(VWF):c.7135C>T (p.Arg2379Cys) rs61751283
NM_000552.4(VWF):c.7239T>C (p.Thr2413=) rs216867
NM_000552.4(VWF):c.7240G>A (p.Ala2414Thr) rs754853953
NM_000552.4(VWF):c.7252_7253TG[1] (p.Cys2418fs)
NM_000552.4(VWF):c.7352G>A (p.Cys2451Tyr)
NM_000552.4(VWF):c.7360_7376del (p.Thr2454fs)
NM_000552.4(VWF):c.7362C>T (p.Thr2454=) rs146504585
NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) rs61751286
NM_000552.4(VWF):c.7399C>T (p.Gln2467Ter)
NM_000552.4(VWF):c.7408C>T (p.Gln2470Ter) rs61751288
NM_000552.4(VWF):c.7429T>C (p.Cys2477Arg)
NM_000552.4(VWF):c.7450G>A (p.Val2484Ile)
NM_000552.4(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.4(VWF):c.7493C>A (p.Ala2498Asp)
NM_000552.4(VWF):c.7525del (p.Asp2509fs)
NM_000552.4(VWF):c.7603C>T (p.Arg2535Ter) rs61751296
NM_000552.4(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.4(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161
NM_000552.4(VWF):c.7698G>A (p.Lys2566=) rs16932285
NM_000552.4(VWF):c.7729+8A>G rs775123891
NM_000552.4(VWF):c.7730-1G>T
NM_000552.4(VWF):c.7730-4C>G rs71581030
NM_000552.4(VWF):c.7732C>T (p.Arg2578Cys)
NM_000552.4(VWF):c.7771-13C>T rs11063962
NM_000552.4(VWF):c.7790T>A (p.Ile2597Asn) rs886049737
NM_000552.4(VWF):c.7800C>T (p.Cys2600=) rs200209213
NM_000552.4(VWF):c.7863del (p.Thr2622fs)
NM_000552.4(VWF):c.7887+12T>C rs55687637
NM_000552.4(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.4(VWF):c.792del (p.Cys265fs) rs1565853894
NM_000552.4(VWF):c.7940C>T (p.Thr2647Met) rs61751302
NM_000552.4(VWF):c.7947C>T (p.Cys2649=) rs748907832
NM_000552.4(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.4(VWF):c.7997C>T (p.Thr2666Met) rs78353028
NM_000552.4(VWF):c.8052C>A (p.Tyr2684Ter) rs1565806829
NM_000552.4(VWF):c.8096A>G (p.His2699Arg) rs886049736
NM_000552.4(VWF):c.8113G>A (p.Gly2705Arg) rs7962217
NM_000552.4(VWF):c.814G>C (p.Ala272Pro)
NM_000552.4(VWF):c.8155+8C>T rs886049735
NM_000552.4(VWF):c.8160G>A (p.Glu2720=) rs368802960
NM_000552.4(VWF):c.8215T>C (p.Cys2739Arg)
NM_000552.4(VWF):c.8275A>G (p.Met2759Val)
NM_000552.4(VWF):c.8276T>C (p.Met2759Thr)
NM_000552.4(VWF):c.8307C>A (p.Asp2769Glu)
NM_000552.4(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.4(VWF):c.8366C>G (p.Thr2789Ser) rs371036946
NM_000552.4(VWF):c.858C>T (p.Thr286=) rs776206258
NM_000552.4(VWF):c.954T>A (p.Asn318Lys) rs1800387
NM_000552.4(VWF):c.993C>A (p.Cys331Ter)
NM_000602.4(SERPINE1):c.*1006T>C rs201434513
NM_000602.4(SERPINE1):c.*1147G>C rs886061838
NM_000602.4(SERPINE1):c.*1155T>C rs886061839
NM_000602.4(SERPINE1):c.*1186C>T rs2227714
NM_000602.4(SERPINE1):c.*1192G>C rs886061840
NM_000602.4(SERPINE1):c.*1266G>C rs778538888
NM_000602.4(SERPINE1):c.*1295C>T rs372017980
NM_000602.4(SERPINE1):c.*1358T>C rs2227700
NM_000602.4(SERPINE1):c.*1388G>A rs71557295
NM_000602.4(SERPINE1):c.*1443C>A rs886061841
NM_000602.4(SERPINE1):c.*1590A>G rs886061842
NM_000602.4(SERPINE1):c.*1668G>C rs886061843
NM_000602.4(SERPINE1):c.*1737G>A rs1050955
NM_000602.4(SERPINE1):c.*1784del rs886061844
NM_000602.4(SERPINE1):c.*207C>T rs747135553
NM_000602.4(SERPINE1):c.*361T>C rs11178
NM_000602.4(SERPINE1):c.*508C>A rs886061836
NM_000602.4(SERPINE1):c.*690T>C rs7241
NM_000602.4(SERPINE1):c.*722T>G rs7242
NM_000602.4(SERPINE1):c.*752C>A rs374321581
NM_000602.4(SERPINE1):c.*859C>T rs886061837
NM_000602.4(SERPINE1):c.*891C>T rs550508703
NM_000602.4(SERPINE1):c.*892G>A rs1050813
NM_000602.4(SERPINE1):c.*950C>T rs536144892
NM_000602.4(SERPINE1):c.*997_*1005dup rs41423845
NM_000602.4(SERPINE1):c.-101G>A rs886061835
NM_000602.4(SERPINE1):c.-54C>T rs760811030
NM_000602.4(SERPINE1):c.-93C>T rs556803416
NM_000602.4(SERPINE1):c.1020C>T (p.Val340=) rs201351580
NM_000602.4(SERPINE1):c.191C>T (p.Ser64Leu) rs758271488
NM_000602.4(SERPINE1):c.356dup (p.Ile120fs) rs1554362148
NM_000602.4(SERPINE1):c.43G>A (p.Ala15Thr) rs6092
NM_000602.4(SERPINE1):c.456G>C (p.Val152=) rs200318916
NM_000602.4(SERPINE1):c.49G>A (p.Val17Ile) rs6090
NM_000602.4(SERPINE1):c.537C>T (p.Ala179=) rs376407844
NM_000602.4(SERPINE1):c.555G>C (p.Arg185=) rs201293550
NM_000602.4(SERPINE1):c.649G>A (p.Gly217Ser) rs766181190
NM_000602.4(SERPINE1):c.697_698TA[3] (p.Thr234fs) rs1194865614
NM_000602.4(SERPINE1):c.845T>G (p.Ile282Ser) rs750289183
NM_000821.7(GGCX):c.1140dup (p.His381fs) rs1558807827
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.1259G>A (p.Gly420Glu) rs186254196
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_000893.4(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG rs869320718
NM_000934.3(SERPINF2):c.1231G>A (p.Val411Met) rs121965062
NM_000934.3(SERPINF2):c.525_527AGA[1] (p.Glu176del) rs121965061
NM_001102416.3(KNG1):c.1216dup (p.His406fs) rs797044430
NM_001102416.3(KNG1):c.1493del (p.Lys498fs) rs797044429
NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs) rs559129841
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001171506.2(MCFD2):c.*2780_*2781del rs886056109
NM_001171506.2(MCFD2):c.-184_-183del rs886056120
NM_001171506.2(MCFD2):c.-184del rs886056122
NM_001171506.2(MCFD2):c.-185_-183del rs886056121
NM_001171506.2(MCFD2):c.-189_-186del rs886056123
NM_001171506.2(MCFD2):c.-189del rs886056124
NM_001171506.2(MCFD2):c.-198_-190del rs372282781
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_001171506.2(MCFD2):c.375_376GA[4] (p.Asp127fs)
NM_001313913.1(F9):c.610-5_617del
NM_001354804.2(F11):c.*1G>C
NM_001994.2(F13B):c.*143G>A rs698859
NM_001994.2(F13B):c.*162C>A rs180977741
NM_001994.2(F13B):c.*89G>C rs17549873
NM_001994.2(F13B):c.-30T>A rs767006990
NM_001994.2(F13B):c.1025T>C (p.Ile342Thr) rs17514281
NM_001994.2(F13B):c.1060T>C (p.Tyr354His) rs376295989
NM_001994.2(F13B):c.1089A>C (p.Ala363=) rs117019969
NM_001994.2(F13B):c.1098C>T (p.Ser366=) rs771474972
NM_001994.2(F13B):c.1145A>G (p.Lys382Arg) rs755966271
NM_001994.2(F13B):c.1163A>T (p.Glu388Val) rs5991
NM_001994.2(F13B):c.1285T>C (p.Tyr429His) rs201427054
NM_001994.2(F13B):c.1320A>G (p.Glu440=) rs147383994
NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.2(F13B):c.1498del (p.Glu500fs) rs797044453
NM_001994.2(F13B):c.1556-13C>A rs149088047
NM_001994.2(F13B):c.1670A>G (p.His557Arg) rs759631235
NM_001994.2(F13B):c.1707T>G (p.Asp569Glu) rs6000
NM_001994.2(F13B):c.1739-8_1739-6del rs556380704
NM_001994.2(F13B):c.1806T>C (p.Asn602=) rs5998
NM_001994.2(F13B):c.1815C>T (p.His605=) rs375961962
NM_001994.2(F13B):c.1902G>A (p.Met634Ile) rs142886126
NM_001994.2(F13B):c.1961C>T (p.Ser654Phe) rs561359007
NM_001994.2(F13B):c.299_300insAAC (p.Tyr100Ter)
NM_001994.2(F13B):c.344G>A (p.Arg115His) rs6003
NM_001994.2(F13B):c.354C>T (p.Cys118=) rs142562955
NM_001994.2(F13B):c.456A>G (p.Thr152=) rs5997
NM_001994.2(F13B):c.570G>A (p.Lys190=) rs17514253
NM_001994.2(F13B):c.645_647del (p.Leu216del) rs750927097
NM_001994.2(F13B):c.796G>C (p.Val266Leu) rs533222920
NM_001994.2(F13B):c.877C>T (p.Arg293Cys) rs780257236
NM_001994.2(F13B):c.986-4T>C rs76405247
NM_003052.5(SLC34A1):c.*179G>A rs141664220
NM_003052.5(SLC34A1):c.*202A>C rs6556319
NM_003052.5(SLC34A1):c.*361T>C rs539754545
NM_003052.5(SLC34A1):c.*485G>A rs143160780
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220
NM_005141.4(FGB):c.*1369G>A rs2227426
NM_005141.4(FGB):c.*1372T>A rs371670019
NM_005141.4(FGB):c.*1409C>A rs886059144
NM_005141.4(FGB):c.*1444C>A rs886059145
NM_005141.4(FGB):c.*1517T>C rs2059502
NM_005141.4(FGB):c.*1542T>C rs886059146
NM_005141.4(FGB):c.*1544T>C rs886059147
NM_005141.4(FGB):c.*1550C>T rs1044291
NM_005141.4(FGB):c.*15A>G rs375561591
NM_005141.4(FGB):c.*1617A>T rs2059503
NM_005141.4(FGB):c.*1671C>T rs765773409
NM_005141.4(FGB):c.*1738G>A rs760784701
NM_005141.4(FGB):c.*1771C>T rs776780011
NM_005141.4(FGB):c.*1867T>C rs886059148
NM_005141.4(FGB):c.*1998A>G rs886059149
NM_005141.4(FGB):c.*303C>T rs886059142
NM_005141.4(FGB):c.*361A>T rs886059143
NM_005141.4(FGB):c.*36A>G rs758231685
NM_005141.4(FGB):c.*373G>A rs2227420
NM_005141.4(FGB):c.*422A>C rs2227421
NM_005141.4(FGB):c.*443G>A rs2227422
NM_005141.4(FGB):c.*447T>C rs2227423
NM_005141.4(FGB):c.*496G>A rs557290052
NM_005141.4(FGB):c.*592G>A rs376470048
NM_005141.4(FGB):c.*619T>C rs2227439
NM_005141.4(FGB):c.*624C>T rs754198978
NM_005141.4(FGB):c.*834del rs57313183
NM_005141.4(FGB):c.*835del rs768727295
NM_005141.4(FGB):c.*918C>G rs2227424
NM_005141.4(FGB):c.-6_-5del rs757727864
NM_005141.4(FGB):c.1113A>G (p.Ser371=) rs6057
NM_005141.4(FGB):c.1125C>T (p.Tyr375=) rs4681
NM_005141.4(FGB):c.114+11del rs779228767
NM_005141.4(FGB):c.1148T>G (p.Leu383Arg) rs121909621
NM_005141.4(FGB):c.1244+1G>T rs606231224
NM_005141.4(FGB):c.1244+7G>A rs142937995
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.1433G>A (p.Arg478Lys) rs4220
NM_005141.4(FGB):c.200G>C (p.Ser67Thr) rs371842822
NM_005141.4(FGB):c.251A>C (p.Lys84Thr) rs886059141
NM_005141.4(FGB):c.291C>T (p.His97=) rs6060
NM_005141.4(FGB):c.318T>C (p.Cys106=) rs6055
NM_005141.4(FGB):c.332A>G (p.Gln111Arg) rs758080375
NM_005141.4(FGB):c.4A>G (p.Lys2Glu) rs6053
NM_005141.4(FGB):c.564T>C (p.Asn188=) rs759250713
NM_005141.4(FGB):c.567C>T (p.Ser189=) rs6056
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.843G>T (p.Val281=) rs6058
NM_005141.4(FGB):c.958+13C>T rs606231223
NM_005141.4(FGB):c.959-13_959-10del rs140114081
NM_005570.4(LMAN1):c.*1168C>T rs770166340
NM_005570.4(LMAN1):c.*1298A>G rs762134361
NM_005570.4(LMAN1):c.*1305A>G rs886054036
NM_005570.4(LMAN1):c.*1332C>G rs779423308
NM_005570.4(LMAN1):c.*1390T>G rs566011013
NM_005570.4(LMAN1):c.*1452_*1455del rs886054035
NM_005570.4(LMAN1):c.*1565C>T rs140930139
NM_005570.4(LMAN1):c.*1616A>G rs543483287
NM_005570.4(LMAN1):c.*164A>G rs41332251
NM_005570.4(LMAN1):c.*1799A>C rs1043334
NM_005570.4(LMAN1):c.*1822G>T rs151128517
NM_005570.4(LMAN1):c.*1970T>G rs886054034
NM_005570.4(LMAN1):c.*1988C>T rs886054033
NM_005570.4(LMAN1):c.*2044A>G rs191555835
NM_005570.4(LMAN1):c.*2063C>G rs7239187
NM_005570.4(LMAN1):c.*2217G>A rs7236294
NM_005570.4(LMAN1):c.*2259A>T rs886054032
NM_005570.4(LMAN1):c.*2387A>G rs34679996
NM_005570.4(LMAN1):c.*2405C>A rs34753206
NM_005570.4(LMAN1):c.*2602G>T rs886054031
NM_005570.4(LMAN1):c.*2650G>A rs886054030
NM_005570.4(LMAN1):c.*2893G>A rs143943495
NM_005570.4(LMAN1):c.*2923C>T rs561819154
NM_005570.4(LMAN1):c.*2929T>C rs4806
NM_005570.4(LMAN1):c.*3107T>A rs3760558
NM_005570.4(LMAN1):c.*424T>G rs886054037
NM_005570.4(LMAN1):c.*48G>A rs148071519
NM_005570.4(LMAN1):c.*490C>T rs117480907
NM_005570.4(LMAN1):c.*57G>A rs41355245
NM_005570.4(LMAN1):c.*939C>T rs149781610
NM_005570.4(LMAN1):c.-5C>T rs765835101
NM_005570.4(LMAN1):c.1050G>T (p.Arg350=) rs185875271
NM_005570.4(LMAN1):c.1149+2T>C rs869312031
NM_005570.4(LMAN1):c.116T>C (p.Val39Ala) rs33926449
NM_005570.4(LMAN1):c.1221-4T>C rs200829791
NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu) rs2298711
NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg) rs147071939
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) rs869312033
NM_005570.4(LMAN1):c.1392G>A (p.Pro464=) rs149932943
NM_005570.4(LMAN1):c.214+7C>T rs2277728
NM_005570.4(LMAN1):c.27C>G (p.Leu9=) rs747955217
NM_005570.4(LMAN1):c.2T>C (p.Met1Thr) rs121909253
NM_005570.4(LMAN1):c.351A>G (p.Arg117=) rs1127220
NM_005570.4(LMAN1):c.41G>A (p.Arg14Gln) rs1043302
NM_005570.4(LMAN1):c.478-15T>C rs183354795
NM_005570.4(LMAN1):c.539+3A>G rs201868497
NM_005570.4(LMAN1):c.539+5GT[3] rs3835325
NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys) rs886054038
NM_005570.4(LMAN1):c.663A>G (p.Thr221=) rs368261071
NM_005570.4(LMAN1):c.796del (p.Gln266fs) rs869312032
NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu) rs41476148
NM_005570.4(LMAN1):c.846G>A (p.Ser282=) rs377676111
NM_005570.4(LMAN1):c.89dup (p.Asp31fs) rs869312030
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter)
NM_021870.3(FGG):c.*488C>T rs191297318
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519
NM_021870.3(FGG):c.274C>T (p.Leu92Phe) rs142286849
NM_021870.3(FGG):c.309T>C (p.Asn103=) rs138916334
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782
NM_021870.3(FGG):c.418T>C (p.Tyr140His) rs2066870
NM_021870.3(FGG):c.78+5G>A rs587776837
NM_021871.3(FGA):c.-58A>G rs2070011
NM_021871.4(FGA):c.*50T>G rs369606098
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766
NM_021871.4(FGA):c.16A>G (p.Ile6Val) rs2070025
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) rs370873387
NM_021871.4(FGA):c.1838A>G (p.His613Arg) rs201686865
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) rs199554805
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153
NM_021871.4(FGA):c.450G>A (p.Gln150=) rs368446857
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226
NM_021871.4(FGA):c.510+1G>T rs146387238
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) rs886059152
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073
NM_021871.4(FGA):c.666A>T (p.Pro222=) rs886059151
NM_021871.4(FGA):c.711dup (p.Lys238Ter) rs606231225
NM_021871.4(FGA):c.765G>A (p.Pro255=) rs779582722
NM_021871.4(FGA):c.822C>T (p.Ser274=) rs886059150
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992
NM_021871.4(FGA):c.919A>G (p.Asn307Asp) rs750564329
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050
NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) rs72547528
NM_139279.5(MCFD2):c.*1010G>T rs138758588
NM_139279.5(MCFD2):c.*1042C>T rs111603188
NM_139279.5(MCFD2):c.*1043G>A rs114662283
NM_139279.5(MCFD2):c.*1111G>C rs181922575
NM_139279.5(MCFD2):c.*1158C>A rs886056113
NM_139279.5(MCFD2):c.*1267G>T rs7596245
NM_139279.5(MCFD2):c.*1289T>C rs527427772
NM_139279.5(MCFD2):c.*1314C>T rs150644996
NM_139279.5(MCFD2):c.*133A>T rs75416242
NM_139279.5(MCFD2):c.*1346G>T rs111535939
NM_139279.5(MCFD2):c.*1354G>T rs886056112
NM_139279.5(MCFD2):c.*1415C>T rs147096932
NM_139279.5(MCFD2):c.*1525C>G rs7596198
NM_139279.5(MCFD2):c.*1677T>G rs28770495
NM_139279.5(MCFD2):c.*1724C>T rs115137793
NM_139279.5(MCFD2):c.*173G>T rs886056116
NM_139279.5(MCFD2):c.*1752T>C rs6544935
NM_139279.5(MCFD2):c.*1788C>T rs115043642
NM_139279.5(MCFD2):c.*1875T>C rs552695942
NM_139279.5(MCFD2):c.*1908G>C rs6743994
NM_139279.5(MCFD2):c.*1924T>C rs6715391
NM_139279.5(MCFD2):c.*1995G>A rs183896754
NM_139279.5(MCFD2):c.*2017C>T rs886056111
NM_139279.5(MCFD2):c.*2075C>T rs6743966
NM_139279.5(MCFD2):c.*2121G>A rs187335799
NM_139279.5(MCFD2):c.*2141G>C rs546151221
NM_139279.5(MCFD2):c.*2163A>G rs140937815
NM_139279.5(MCFD2):c.*2169G>A rs79487300
NM_139279.5(MCFD2):c.*2336A>C rs144118640
NM_139279.5(MCFD2):c.*2454C>A rs1051317
NM_139279.5(MCFD2):c.*2565A>G rs886056110
NM_139279.5(MCFD2):c.*2658C>T rs17035887
NM_139279.5(MCFD2):c.*2675C>G rs17035884
NM_139279.5(MCFD2):c.*2789G>C rs886056108
NM_139279.5(MCFD2):c.*2848C>T rs142254354
NM_139279.5(MCFD2):c.*3014G>A rs886056107
NM_139279.5(MCFD2):c.*3072_*3073insGG rs559484016
NM_139279.5(MCFD2):c.*3099G>A rs886056106
NM_139279.5(MCFD2):c.*3100C>G rs13424086
NM_139279.5(MCFD2):c.*311G>A rs886056115
NM_139279.5(MCFD2):c.*3293A>C rs763634945
NM_139279.5(MCFD2):c.*3318T>C rs8861
NM_139279.5(MCFD2):c.*3354A>G rs886056105
NM_139279.5(MCFD2):c.*428G>A rs781195000
NM_139279.5(MCFD2):c.*498A>G rs144674773
NM_139279.5(MCFD2):c.*517C>G rs761766519
NM_139279.5(MCFD2):c.*557G>A rs185756640
NM_139279.5(MCFD2):c.*569G>A rs149363149
NM_139279.5(MCFD2):c.*62T>G rs886056117
NM_139279.5(MCFD2):c.*64T>C rs754447509
NM_139279.5(MCFD2):c.*693G>C rs28516550
NM_139279.5(MCFD2):c.*73A>G rs71423925
NM_139279.5(MCFD2):c.*84T>C rs182576601
NM_139279.5(MCFD2):c.*892G>A rs886056114
NM_139279.5(MCFD2):c.*912C>T rs189018618
NM_139279.5(MCFD2):c.-34C>A rs886056119
NM_139279.5(MCFD2):c.-7+11T>A rs201752014
NM_139279.5(MCFD2):c.-95C>G rs886056125
NM_139279.5(MCFD2):c.106C>G (p.Pro36Ala) rs756021929
NM_139279.5(MCFD2):c.236T>C (p.Met79Thr) rs886056118
NM_139279.5(MCFD2):c.241G>T (p.Asp81Tyr) rs78289603
NM_139279.5(MCFD2):c.309+1G>A rs387906287
NM_139279.5(MCFD2):c.310-11G>C rs144139062
NM_139279.5(MCFD2):c.387C>G (p.Asp129Glu) rs137852913
NM_139279.5(MCFD2):c.407T>C (p.Ile136Thr) rs137852914
NM_139279.5(MCFD2):c.416C>T (p.Ala139Val) rs80294301
SERPINE1, 2-BP INS, 4977TA
SERPINF2, 1-BP INS, 1438C
Single allele
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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