NM_000312.4(PROC):c.535+44A>G
|
rs1878844
|
0.99432
|
NM_000130.5(F5):c.5419+12A>G
|
rs6009
|
0.92617
|
NM_000313.4(PROS1):c.*520A>C
|
rs9681204
|
0.79141
|
NM_000312.4(PROC):c.423G>T (p.Ser141=)
|
rs5936
|
0.69846
|
NM_000412.5(HRG):c.1478A>T (p.Asn493Ile)
|
rs1042464
|
0.56537
|
NC_000002.12:g.127418299G>A
|
rs1799809
|
0.51466
|
NM_000130.5(F5):c.*1115C>T
|
rs2040444
|
0.48430
|
NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=)
|
rs5878
|
0.48194
|
NM_000488.4(SERPINC1):c.981A>G (p.Val327=)
|
rs5877
|
0.47782
|
NM_000313.4(PROS1):c.76+4007C>T
|
rs13062355
|
0.45865
|
NM_000312.4(PROC):c.-50A>T
|
rs1799810
|
0.44475
|
NM_000412.5(HRG):c.610C>T (p.Pro204Ser)
|
rs9898
|
0.42622
|
NM_000506.5(F2):c.1726-59G>A
|
rs3136516
|
0.38221
|
NM_000313.4(PROS1):c.2001A>G (p.Pro667=)
|
rs6123
|
0.34761
|
NM_000130.5(F5):c.552G>T (p.Ser184=)
|
rs6022
|
0.33707
|
NM_000130.5(F5):c.3804T>C (p.Ser1268=)
|
rs1800594
|
0.33303
|
NC_000002.12:g.127418286C>T
|
rs1799808
|
0.33155
|
NM_000312.4(PROC):c.768T>C (p.Asp256=)
|
rs5937
|
0.31215
|
NM_000130.5(F5):c.405G>A (p.Ala135=)
|
rs6029
|
0.30567
|
NM_021871.4(FGA):c.991A>G (p.Thr331Ala)
|
rs6050
|
0.29452
|
NM_000130.5(F5):c.5290A>G (p.Met1764Val)
|
rs6030
|
0.29437
|
NM_000130.5(F5):c.4095C>T (p.Thr1365=)
|
rs9332607
|
0.28700
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_000412.5(HRG):c.1342C>T (p.Arg448Cys)
|
rs1042445
|
0.27106
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_000130.5(F5):c.*1601C>T
|
rs2187952
|
0.25664
|
NM_000130.5(F5):c.2573A>G (p.Lys858Arg)
|
rs4524
|
0.24628
|
NM_000130.5(F5):c.2208C>T (p.Ile736=)
|
rs6016
|
0.24548
|
NM_000130.5(F5):c.2301A>G (p.Ser767=)
|
rs6021
|
0.24547
|
NM_000130.5(F5):c.2773A>G (p.Lys925Glu)
|
rs6032
|
0.24537
|
NM_000130.5(F5):c.2594A>G (p.His865Arg)
|
rs4525
|
0.24141
|
NM_000130.5(F5):c.2235T>C (p.Asn745=)
|
rs6017
|
0.23336
|
NM_000133.4(F9):c.580A>G (p.Thr194Ala)
|
rs6048
|
0.22614
|
NM_000130.5(F5):c.237A>G (p.Gln79=)
|
rs6028
|
0.22486
|
NM_000129.4(F13A1):c.103G>T (p.Val35Leu)
|
rs5985
|
0.22002
|
NM_000130.5(F5):c.3948C>T (p.Leu1316=)
|
rs9287090
|
0.21875
|
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile)
|
rs1046712
|
0.16200
|
NM_000130.5(F5):c.319G>C (p.Asp107His)
|
rs6019
|
0.14054
|
NM_000506.5(F2):c.494C>T (p.Thr165Met)
|
rs5896
|
0.13207
|
NM_000130.5(F5):c.1538G>A (p.Arg513Lys)
|
rs6020
|
0.11893
|
NM_000488.4(SERPINC1):c.1154-53G>A
|
rs2759328
|
0.09980
|
NM_000488.4(SERPINC1):c.1218+27G>C
|
rs677
|
0.09086
|
NM_000130.5(F5):c.1242A>G (p.Lys414=)
|
rs6035
|
0.08632
|
NM_000132.4(F8):c.6769A>G (p.Met2257Val)
|
rs1800297
|
0.07378
|
NM_000506.5(F2):c.1233G>A (p.Pro411=)
|
rs5898
|
0.06530
|
NM_000130.5(F5):c.1380C>T (p.Asn460=)
|
rs6015
|
0.06377
|
NM_000130.5(F5):c.1716G>A (p.Glu572=)
|
rs6036
|
0.06356
|
NM_000130.5(F5):c.1238T>C (p.Met413Thr)
|
rs6033
|
0.06350
|
NM_000130.5(F5):c.1926C>A (p.Thr642=)
|
rs6037
|
0.06314
|
NM_000130.5(F5):c.730+7C>T
|
rs6023
|
0.05754
|
NM_000130.5(F5):c.*1820A>C
|
rs72708013
|
0.05560
|
NM_000130.5(F5):c.*873C>T
|
rs9332673
|
0.05551
|
NM_000130.5(F5):c.2450A>C (p.Asn817Thr)
|
rs6018
|
0.05508
|
NM_000130.5(F5):c.*1246C>T
|
rs9332676
|
0.05464
|
NM_000130.5(F5):c.2289A>G (p.Glu763=)
|
rs6024
|
0.05387
|
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly)
|
rs6027
|
0.05290
|
NM_000130.5(F5):c.3980A>G (p.His1327Arg)
|
rs1800595
|
0.05166
|
NM_000130.5(F5):c.5022A>G (p.Gly1674=)
|
rs6010
|
0.04908
|
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe)
|
rs13306334
|
0.04678
|
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser)
|
rs9332608
|
0.04654
|
NM_000506.5(F2):c.480C>T (p.Pro160=)
|
rs3136452
|
0.04324
|
NM_000133.4(F9):c.391+7A>G
|
rs6049
|
0.03649
|
NM_000130.5(F5):c.6443T>C (p.Met2148Thr)
|
rs9332701
|
0.03115
|
NM_000130.5(F5):c.3438C>G (p.His1146Gln)
|
rs6005
|
0.02373
|
NM_000488.4(SERPINC1):c.42-18C>T
|
rs2227599
|
0.02345
|
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)
|
rs7080536
|
0.02322
|
NM_000130.5(F5):c.2425C>T (p.Pro809Ser)
|
rs6031
|
0.02292
|
NM_000506.5(F2):c.79+7G>A
|
rs3136431
|
0.02215
|
NM_000130.5(F5):c.*1118G>A
|
rs9332675
|
0.01943
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_000130.5(F5):c.43G>A (p.Gly15Ser)
|
rs9332485
|
0.01740
|
NM_000130.5(F5):c.4000T>C (p.Phe1334Leu)
|
rs147741798
|
0.01605
|
NM_000506.5(F2):c.1602G>A (p.Pro534=)
|
rs5900
|
0.01567
|
NM_000130.5(F5):c.2925C>T (p.Pro975=)
|
rs41272457
|
0.01542
|
NM_000312.4(PROC):c.1107G>A (p.Pro369=)
|
rs61731660
|
0.01266
|
NM_000130.5(F5):c.*476C>T
|
rs72708017
|
0.01259
|
NM_000130.5(F5):c.2743A>T (p.Thr915Ser)
|
rs9332695
|
0.01251
|
NM_000312.4(PROC):c.400+13G>A
|
rs116738363
|
0.01131
|
NM_000130.5(F5):c.816C>T (p.Asn272=)
|
rs9332578
|
0.01106
|
NM_000133.4(F9):c.278-27A>G
|
rs3134809
|
0.01095
|
NM_000133.4(F9):c.1095A>G (p.Ser365=)
|
rs112057482
|
0.01021
|
NM_000312.4(PROC):c.630G>A (p.Pro210=)
|
rs2069927
|
0.00967
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00953
|
NM_000313.4(PROS1):c.*197C>T
|
rs182088150
|
0.00949
|
NM_000313.4(PROS1):c.1032C>T (p.Ile344=)
|
rs78449232
|
0.00913
|
NC_000020.11:g.23049706C>T
|
rs13306848
|
0.00891
|
NM_000313.4(PROS1):c.234+72T>C
|
rs115491294
|
0.00885
|
NM_000312.4(PROC):c.-33C>T
|
rs116169054
|
0.00873
|
NM_000133.4(F9):c.1110G>A (p.Gln370=)
|
rs34698779
|
0.00833
|
NM_000130.5(F5):c.5460G>A (p.Met1820Ile)
|
rs6026
|
0.00789
|
NM_000130.5(F5):c.158+13T>C
|
rs116416322
|
0.00733
|
NM_000130.5(F5):c.*376A>T
|
rs76510731
|
0.00677
|
NM_000130.5(F5):c.*1488T>C
|
rs75764442
|
0.00676
|
NM_000506.5(F2):c.813C>T (p.Gly271=)
|
rs5899
|
0.00654
|
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg)
|
rs76135678
|
0.00624
|
NM_000132.4(F8):c.1508G>A (p.Arg503His)
|
rs35383156
|
0.00563
|
NM_000130.5(F5):c.*1290G>A
|
rs9332677
|
0.00480
|
NM_000506.5(F2):c.1824C>T (p.Arg608=)
|
rs3136532
|
0.00454
|
NM_000313.4(PROS1):c.728-20G>A
|
rs78230833
|
0.00418
|
NM_000312.4(PROC):c.399C>T (p.Arg133=)
|
rs200045749
|
0.00394
|
NM_000312.4(PROC):c.924C>T (p.Pro308=)
|
rs13388546
|
0.00390
|
NM_000130.5(F5):c.4035A>G (p.Gln1345=)
|
rs886045547
|
0.00377
|
NM_000313.4(PROS1):c.*693G>A
|
rs189450409
|
0.00369
|
NM_000130.5(F5):c.2129A>G (p.His710Arg)
|
rs115954845
|
0.00366
|
NM_000130.5(F5):c.6309G>A (p.Leu2103=)
|
rs35369423
|
0.00361
|
NM_000312.4(PROC):c.536-6C>T
|
rs148108718
|
0.00357
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
NM_000412.5(HRG):c.125G>A (p.Arg42Gln)
|
rs114895145
|
0.00315
|
NM_000313.4(PROS1):c.1021G>A (p.Ala341Thr)
|
rs189883848
|
0.00312
|
NM_000130.5(F5):c.2906A>G (p.Asn969Ser)
|
rs9332604
|
0.00302
|
NM_000313.4(PROS1):c.-62T>G
|
rs556711298
|
0.00299
|
NM_000130.5(F5):c.*891A>G
|
rs9332674
|
0.00298
|
NM_000133.4(F9):c.967G>A (p.Glu323Lys)
|
rs150351950
|
0.00294
|
NM_000130.5(F5):c.3751T>C (p.Leu1251=)
|
rs1403856375
|
0.00287
|
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)
|
rs41348347
|
0.00281
|
NM_000313.4(PROS1):c.*783C>T
|
rs137965257
|
0.00280
|
NM_000313.4(PROS1):c.*992T>G
|
rs538711279
|
0.00263
|
NM_000130.5(F5):c.4923C>T (p.Leu1641=)
|
rs116809837
|
0.00258
|
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)
|
rs6679078
|
0.00257
|
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr)
|
rs150104888
|
0.00246
|
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)
|
rs139645527
|
0.00242
|
NM_000313.4(PROS1):c.*454G>A
|
rs539871594
|
0.00238
|
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu)
|
rs73846070
|
0.00238
|
NM_000130.5(F5):c.*2037G>A
|
rs550454517
|
0.00229
|
NM_000130.5(F5):c.*581C>A
|
rs180742904
|
0.00227
|
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)
|
rs149026031
|
0.00216
|
NM_000313.4(PROS1):c.*686G>A
|
rs550909963
|
0.00211
|
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys)
|
rs41267007
|
0.00202
|
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)
|
rs1800579
|
0.00193
|
NM_000506.5(F2):c.1298+11G>C
|
rs144587241
|
0.00191
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00190
|
NM_000130.5(F5):c.*216T>A
|
rs186962725
|
0.00188
|
NM_000130.5(F5):c.*363T>G
|
rs115882472
|
0.00187
|
NM_000312.4(PROC):c.-21-5C>T
|
rs41269833
|
0.00187
|
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala)
|
rs2227606
|
0.00184
|
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)
|
rs142617551
|
0.00183
|
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)
|
rs78201625
|
0.00179
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00178
|
NM_000130.5(F5):c.*396C>A
|
rs181328696
|
0.00175
|
NM_000185.4(SERPIND1):c.830C>T (p.Ala277Val)
|
rs115355953
|
0.00169
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00167
|
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
|
rs6034
|
0.00166
|
NM_000312.4(PROC):c.*146T>C
|
rs140461934
|
0.00158
|
NM_000130.5(F5):c.6193+7T>A
|
rs185294741
|
0.00156
|
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)
|
rs5907
|
0.00156
|
NM_000313.4(PROS1):c.1095T>G (p.Asn365Lys)
|
rs199469491
|
0.00155
|
NM_000313.4(PROS1):c.*469A>C
|
rs147496684
|
0.00153
|
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)
|
rs6011
|
0.00144
|
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile)
|
rs139573207
|
0.00142
|
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)
|
rs6007
|
0.00140
|
NM_000313.4(PROS1):c.*380A>T
|
rs138546241
|
0.00139
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00133
|
NM_000133.4(F9):c.1381A>C (p.Thr461Pro)
|
rs4149751
|
0.00129
|
NM_000312.4(PROC):c.66T>C (p.Pro22=)
|
rs144300387
|
0.00126
|
NM_000130.5(F5):c.-40T>C
|
rs41272465
|
0.00121
|
NM_000506.5(F2):c.1628G>T (p.Arg543Leu)
|
rs143064939
|
0.00121
|
NM_000313.4(PROS1):c.234+5G>A
|
rs187264712
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_000312.4(PROC):c.891C>T (p.Asp297=)
|
rs5935
|
0.00115
|
NM_000133.4(F9):c.696T>C (p.Asp232=)
|
rs140835723
|
0.00113
|
NM_000133.4(F9):c.391+10T>G
|
rs375734226
|
0.00112
|
NM_000130.5(F5):c.3504A>C (p.Thr1168=)
|
rs13306332
|
0.00111
|
NM_000133.4(F9):c.819T>C (p.Val273=)
|
rs1800455
|
0.00110
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00110
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00109
|
NM_000130.5(F5):c.*441C>T
|
rs188490117
|
0.00105
|
NM_000133.4(F9):c.1257G>T (p.Val419=)
|
rs61731481
|
0.00096
|
NM_000130.5(F5):c.*598T>G
|
rs544753372
|
0.00095
|
NM_000506.5(F2):c.*96C>T
|
rs72550707
|
0.00087
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
NM_000312.4(PROC):c.1111A>G (p.Asn371Asp)
|
rs145800354
|
0.00085
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00084
|
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)
|
rs144262027
|
0.00078
|
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu)
|
rs138864377
|
0.00078
|
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)
|
rs200532195
|
0.00076
|
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)
|
rs141977229
|
0.00076
|
NM_000506.5(F2):c.843C>T (p.Gly281=)
|
rs147699032
|
0.00076
|
NM_005957.5(MTHFR):c.788A>C (p.His263Pro)
|
rs142612062
|
0.00076
|
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
|
rs138877178
|
0.00074
|
NM_000312.4(PROC):c.462G>A (p.Glu154=)
|
rs201952795
|
0.00068
|
NM_000313.4(PROS1):c.965+17A>C
|
rs181703512
|
0.00068
|
NM_000130.5(F5):c.1785G>A (p.Glu595=)
|
rs112333778
|
0.00064
|
NM_000312.4(PROC):c.1161T>C (p.Cys387=)
|
rs148855579
|
0.00063
|
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
|
rs146408488
|
0.00062
|
NM_000130.5(F5):c.5589C>A (p.Pro1863=)
|
rs148772659
|
0.00061
|
NM_000361.3(THBD):c.683C>T (p.Pro228Leu)
|
rs375011249
|
0.00060
|
NM_000312.4(PROC):c.30C>T (p.Phe10=)
|
rs148490199
|
0.00059
|
NM_000313.4(PROS1):c.258A>G (p.Leu86=)
|
rs139964194
|
0.00058
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
NM_000130.5(F5):c.*1912C>T
|
rs865812546
|
0.00056
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
NM_000506.5(F2):c.1464G>A (p.Thr488=)
|
rs146742525
|
0.00055
|
NM_000129.4(F13A1):c.118G>A (p.Val40Ile)
|
rs3024472
|
0.00054
|
NM_000130.5(F5):c.5558G>T (p.Gly1853Val)
|
rs182566496
|
0.00054
|
NM_000130.5(F5):c.-84G>A
|
rs543172813
|
0.00053
|
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser)
|
rs145180358
|
0.00052
|
NM_000506.5(F2):c.1541A>G (p.Asn514Ser)
|
rs144011338
|
0.00052
|
NM_000506.5(F2):c.191C>T (p.Thr64Met)
|
rs142001812
|
0.00051
|
NM_000312.4(PROC):c.263-14G>T
|
rs370917112
|
0.00049
|
NM_000313.4(PROS1):c.1248G>A (p.Pro416=)
|
rs148869673
|
0.00049
|
NC_000003.12:g.93973939G>C
|
rs149028936
|
0.00048
|
NM_000130.5(F5):c.885C>T (p.Thr295=)
|
rs148752831
|
0.00048
|
NM_000133.4(F9):c.*293C>T
|
rs747670394
|
0.00048
|
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys)
|
rs41400249
|
0.00048
|
NM_000130.5(F5):c.4082C>T (p.Pro1361Leu)
|
rs200676405
|
0.00047
|
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)
|
rs146922325
|
0.00046
|
NM_000312.4(PROC):c.71-17C>T
|
rs138057813
|
0.00046
|
NM_000313.4(PROS1):c.1494T>C (p.Asn498=)
|
rs76877671
|
0.00046
|
NM_000488.4(SERPINC1):c.678C>T (p.Thr226=)
|
rs2227627
|
0.00045
|
NM_000313.4(PROS1):c.1156-19T>C
|
rs534457194
|
0.00044
|
NM_000133.4(F9):c.907C>T (p.His303Tyr)
|
rs1801202
|
0.00043
|
NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala)
|
rs142846443
|
0.00043
|
NM_000313.4(PROS1):c.76+19C>T
|
rs375697737
|
0.00042
|
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys)
|
rs143521873
|
0.00041
|
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)
|
rs144526169
|
0.00040
|
NM_000133.4(F9):c.8G>A (p.Arg3His)
|
rs148060786
|
0.00039
|
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)
|
rs141768227
|
0.00038
|
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)
|
rs141589936
|
0.00036
|
NM_000313.4(PROS1):c.1041A>G (p.Ser347=)
|
rs376656035
|
0.00034
|
NM_000312.4(PROC):c.1299C>T (p.Gly433=)
|
rs151319700
|
0.00032
|
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)
|
rs374118662
|
0.00031
|
NM_000130.5(F5):c.5490G>A (p.Leu1830=)
|
rs149092241
|
0.00031
|
NM_000313.4(PROS1):c.-135C>T
|
rs750502941
|
0.00031
|
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)
|
rs192187532
|
0.00031
|
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln)
|
rs2066472
|
0.00031
|
NM_000506.5(F2):c.234G>A (p.Thr78=)
|
rs151121282
|
0.00030
|
NM_000313.4(PROS1):c.-261C>T
|
rs886058930
|
0.00029
|
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn)
|
rs146366248
|
0.00029
|
NM_000488.4(SERPINC1):c.-57G>A
|
rs372524963
|
0.00029
|
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)
|
rs61736655
|
0.00029
|
NM_000313.4(PROS1):c.1446C>T (p.Gly482=)
|
rs535201753
|
0.00028
|
NM_000130.5(F5):c.1158A>G (p.Gln386=)
|
rs148623862
|
0.00027
|
NM_000361.3(THBD):c.1361T>C (p.Val454Ala)
|
rs147377392
|
0.00027
|
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser)
|
rs115148599
|
0.00026
|
NM_000130.5(F5):c.996A>C (p.Lys332Asn)
|
rs143509841
|
0.00026
|
NM_000313.4(PROS1):c.-48C>A
|
rs775507528
|
0.00026
|
NM_000488.4(SERPINC1):c.763-16T>C
|
rs145418597
|
0.00026
|
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)
|
rs370190321
|
0.00026
|
NM_000488.4(SERPINC1):c.873T>C (p.Arg291=)
|
rs775845871
|
0.00026
|
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)
|
rs200100285
|
0.00026
|
NM_000130.5(F5):c.*838T>C
|
rs376103455
|
0.00025
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00025
|
NM_000313.4(PROS1):c.*119T>C
|
rs886058924
|
0.00025
|
NM_000361.3(THBD):c.-151G>T
|
rs16984852
|
0.00025
|
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)
|
rs546519295
|
0.00025
|
NM_000313.4(PROS1):c.469+4C>T
|
rs200980997
|
0.00024
|
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)
|
rs118203905
|
0.00023
|
NM_000130.5(F5):c.2868T>C (p.Tyr956=)
|
rs149067268
|
0.00023
|
NM_000313.4(PROS1):c.*1103A>G
|
rs779418455
|
0.00023
|
NM_000313.4(PROS1):c.*155T>A
|
rs534064879
|
0.00023
|
NM_000312.4(PROC):c.263-4G>A
|
rs373494631
|
0.00022
|
NM_000506.5(F2):c.371G>A (p.Arg124Gln)
|
rs139148365
|
0.00022
|
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)
|
rs199507543
|
0.00021
|
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
|
rs144937515
|
0.00021
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00021
|
NM_000361.3(THBD):c.866A>T (p.Asn289Ile)
|
rs143748797
|
0.00021
|
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr)
|
rs772809607
|
0.00021
|
NM_000506.5(F2):c.495G>A (p.Thr165=)
|
rs144857547
|
0.00021
|
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)
|
rs373076763
|
0.00021
|
NM_000130.5(F5):c.*1780G>T
|
rs559071301
|
0.00020
|
NM_000312.4(PROC):c.-54G>A
|
rs2069936
|
0.00020
|
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)
|
rs199568344
|
0.00019
|
NM_000412.5(HRG):c.72C>A (p.Cys24Ter)
|
rs148593044
|
0.00019
|
NM_000488.4(SERPINC1):c.910T>C (p.Leu304=)
|
rs150507232
|
0.00019
|
NM_000506.5(F2):c.798C>T (p.Asp266=)
|
rs138260543
|
0.00019
|
NM_000312.4(PROC):c.1212G>A (p.Gly404=)
|
rs370637632
|
0.00018
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000130.5(F5):c.1297-13T>C
|
rs372389170
|
0.00017
|
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
|
rs199660138
|
0.00017
|
NM_000133.4(F9):c.1029C>T (p.Asn343=)
|
rs145026483
|
0.00017
|
NM_000313.4(PROS1):c.*370G>A
|
rs144135580
|
0.00017
|
NM_000313.4(PROS1):c.1324A>G (p.Ile442Val)
|
rs768097849
|
0.00017
|
NM_000130.5(F5):c.4972-14A>C
|
rs763080313
|
0.00016
|
NM_000130.5(F5):c.524A>G (p.His175Arg)
|
rs201510575
|
0.00016
|
NM_000313.4(PROS1):c.1815C>T (p.Ala605=)
|
rs758204799
|
0.00016
|
NM_000132.4(F8):c.3836G>A (p.Arg1279Lys)
|
rs139451429
|
0.00015
|
NM_000312.4(PROC):c.1179C>T (p.Asp393=)
|
rs148035465
|
0.00015
|
NM_000312.4(PROC):c.703A>C (p.Lys235Gln)
|
rs370086431
|
0.00015
|
NM_000313.4(PROS1):c.1727A>T (p.Glu576Val)
|
rs528604865
|
0.00015
|
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)
|
rs202153689
|
0.00015
|
NM_000130.5(F5):c.*1237G>A
|
rs979200861
|
0.00014
|
NM_000130.5(F5):c.3221A>G (p.Asn1074Ser)
|
rs200269019
|
0.00014
|
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)
|
rs200204656
|
0.00014
|
NM_000130.5(F5):c.437G>A (p.Arg146Gln)
|
rs145625079
|
0.00014
|
NM_000133.4(F9):c.250A>G (p.Thr84Ala)
|
rs201120367
|
0.00014
|
NM_000506.5(F2):c.559+5G>A
|
rs376151472
|
0.00014
|
NM_000130.5(F5):c.*2053G>C
|
rs886045534
|
0.00013
|
NM_000130.5(F5):c.4347G>A (p.Pro1449=)
|
rs145732153
|
0.00013
|
NM_000133.4(F9):c.1385A>G (p.Ter462=)
|
rs561793582
|
0.00013
|
NM_000312.4(PROC):c.889G>C (p.Asp297His)
|
rs199469471
|
0.00013
|
NM_000313.4(PROS1):c.*1046T>C
|
rs546710591
|
0.00013
|
NM_000313.4(PROS1):c.-43G>A
|
rs370938580
|
0.00013
|
NM_000313.4(PROS1):c.585T>C (p.Asn195=)
|
rs372109285
|
0.00013
|
NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys)
|
rs376752370
|
0.00013
|
NM_000130.5(F5):c.*1776A>G
|
rs567224548
|
0.00012
|
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser)
|
rs149048805
|
0.00012
|
NM_000133.4(F9):c.768C>T (p.Ile256=)
|
rs758909063
|
0.00012
|
NM_000312.4(PROC):c.400+19T>G
|
rs571133684
|
0.00012
|
NM_000313.4(PROS1):c.1377A>G (p.Gly459=)
|
rs371312357
|
0.00012
|
NM_000313.4(PROS1):c.1747A>C (p.Asn583His)
|
rs139479630
|
0.00012
|
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser)
|
rs142805170
|
0.00012
|
NM_000133.4(F9):c.1143A>G (p.Thr381=)
|
rs761784613
|
0.00011
|
NM_000133.4(F9):c.114C>T (p.Asn38=)
|
rs745353370
|
0.00011
|
NM_000133.4(F9):c.51C>T (p.Ile17=)
|
rs774612303
|
0.00011
|
NM_000312.4(PROC):c.927C>T (p.Ala309=)
|
rs200731614
|
0.00011
|
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met)
|
rs373336653
|
0.00011
|
NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile)
|
rs202190731
|
0.00011
|
NM_000313.4(PROS1):c.684C>T (p.Cys228=)
|
rs377173471
|
0.00011
|
NM_000488.4(SERPINC1):c.808C>T (p.Leu270=)
|
rs139275128
|
0.00011
|
NM_000506.5(F2):c.*9T>G
|
rs201577861
|
0.00011
|
NM_000506.5(F2):c.706G>A (p.Ala236Thr)
|
rs148020569
|
0.00011
|
NM_000129.4(F13A1):c.2036A>T (p.Lys679Met)
|
rs201302247
|
0.00010
|
NM_000130.5(F5):c.1128G>T (p.Arg376Ser)
|
rs373172802
|
0.00010
|
NM_000130.5(F5):c.3089G>A (p.Arg1030Gln)
|
rs758795781
|
0.00010
|
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)
|
rs146312772
|
0.00010
|
NM_000132.4(F8):c.1337G>A (p.Arg446Gln)
|
rs781889613
|
0.00010
|
NM_000133.4(F9):c.769G>A (p.Val257Ile)
|
rs200608775
|
0.00010
|
NM_000185.4(SERPIND1):c.941G>C (p.Arg314Pro)
|
rs142500721
|
0.00010
|
NM_000312.4(PROC):c.1234G>A (p.Gly412Ser)
|
rs139741458
|
0.00010
|
NM_000312.4(PROC):c.400+6G>T
|
rs527647588
|
0.00010
|
NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu)
|
rs369244777
|
0.00010
|
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)
|
rs368774068
|
0.00010
|
NM_000130.5(F5):c.*1432C>T
|
rs886045536
|
0.00009
|
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln)
|
rs369516642
|
0.00009
|
NM_000312.4(PROC):c.*170G>T
|
rs563767423
|
0.00009
|
NM_000313.4(PROS1):c.1847C>T (p.Ala616Val)
|
rs145711536
|
0.00009
|
NM_000313.4(PROS1):c.601+18G>C
|
rs201334561
|
0.00009
|
NM_000361.3(THBD):c.1523C>T (p.Pro508Leu)
|
rs201936427
|
0.00009
|
NM_000506.5(F2):c.317-4G>A
|
rs375713715
|
0.00009
|
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn)
|
rs45589033
|
0.00009
|
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val)
|
rs76451285
|
0.00008
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00008
|
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu)
|
rs782799573
|
0.00008
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00008
|
NM_000312.4(PROC):c.226G>A (p.Val76Met)
|
rs121918149
|
0.00008
|
NM_000312.4(PROC):c.714C>T (p.Cys238=)
|
rs141249033
|
0.00008
|
NM_000313.4(PROS1):c.*1139C>A
|
rs886058922
|
0.00008
|
NM_000313.4(PROS1):c.1183A>G (p.Ile395Val)
|
rs368987511
|
0.00008
|
NM_000313.4(PROS1):c.1334G>A (p.Arg445His)
|
rs375034896
|
0.00008
|
NM_000313.4(PROS1):c.503A>G (p.Asn168Ser)
|
rs144430063
|
0.00008
|
NM_000313.4(PROS1):c.852T>G (p.Val284=)
|
rs371425622
|
0.00008
|
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)
|
rs369524182
|
0.00008
|
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala)
|
rs531137446
|
0.00008
|
NM_000488.4(SERPINC1):c.858G>C (p.Gln286His)
|
rs139463995
|
0.00008
|
NM_000130.5(F5):c.*149C>G
|
rs534748300
|
0.00007
|
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)
|
rs118203906
|
0.00007
|
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)
|
rs1800294
|
0.00007
|
NM_000132.4(F8):c.5291A>G (p.Gln1764Arg)
|
rs374988541
|
0.00007
|
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)
|
rs143018900
|
0.00007
|
NM_000133.4(F9):c.679G>A (p.Val227Ile)
|
rs137852242
|
0.00007
|
NM_000312.4(PROC):c.322C>A (p.His108Asn)
|
rs200234655
|
0.00007
|
NM_000312.4(PROC):c.678+10G>A
|
rs776905824
|
0.00007
|
NM_000313.4(PROS1):c.1043C>T (p.Ala348Val)
|
rs769125007
|
0.00007
|
NM_000313.4(PROS1):c.1309G>A (p.Glu437Lys)
|
rs771370692
|
0.00007
|
NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)
|
rs149006854
|
0.00007
|
NM_000488.4(SERPINC1):c.1154-5T>C
|
rs375346550
|
0.00007
|
NM_000488.4(SERPINC1):c.878G>A (p.Arg293Gln)
|
rs572313182
|
0.00007
|
NM_000130.5(F5):c.*1170G>A
|
rs191866237
|
0.00006
|
NM_000130.5(F5):c.*288T>C
|
rs116921763
|
0.00006
|
NM_000130.5(F5):c.1106C>T (p.Ala369Val)
|
rs200934105
|
0.00006
|
NM_000130.5(F5):c.5534A>G (p.His1845Arg)
|
rs200865371
|
0.00006
|
NM_000132.4(F8):c.3701A>T (p.His1234Leu)
|
rs145507297
|
0.00006
|
NM_000132.4(F8):c.4531G>A (p.Val1511Ile)
|
rs186353717
|
0.00006
|
NM_000133.4(F9):c.116A>G (p.Lys39Arg)
|
rs200505648
|
0.00006
|
NM_000133.4(F9):c.231T>G (p.Val77=)
|
rs767303239
|
0.00006
|
NM_000312.4(PROC):c.*152T>C
|
rs1054891637
|
0.00006
|
NM_000312.4(PROC):c.52G>A (p.Gly18Ser)
|
rs146793243
|
0.00006
|
NM_000313.3(PROS1):c.-187G>T
|
rs1195211433
|
0.00006
|
NM_000313.4(PROS1):c.1682G>A (p.Arg561Gln)
|
rs377174703
|
0.00006
|
NM_000313.4(PROS1):c.469+18C>T
|
rs761224799
|
0.00006
|
NM_000313.4(PROS1):c.947G>A (p.Arg316His)
|
rs747259055
|
0.00006
|
NM_000361.3(THBD):c.80G>A (p.Gly27Asp)
|
rs751742571
|
0.00006
|
NM_000488.4(SERPINC1):c.1154-15C>T
|
rs763052075
|
0.00006
|
NM_000488.4(SERPINC1):c.719A>G (p.Asn240Ser)
|
rs200861147
|
0.00006
|
NM_000506.5(F2):c.1815T>C (p.His605=)
|
rs368442575
|
0.00006
|
NM_000130.5(F5):c.*1257A>C
|
rs527497923
|
0.00005
|
NM_000130.5(F5):c.*1404G>A
|
rs950549168
|
0.00005
|
NM_000130.5(F5):c.*1433G>A
|
rs1324064139
|
0.00005
|
NM_000130.5(F5):c.*1715T>G
|
rs763562497
|
0.00005
|
NM_000130.5(F5):c.*75G>A
|
rs1001647624
|
0.00005
|
NM_000130.5(F5):c.*762G>A
|
rs753366128
|
0.00005
|
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
|
rs746260106
|
0.00005
|
NM_000130.5(F5):c.1300G>A (p.Val434Met)
|
rs574610215
|
0.00005
|
NM_000130.5(F5):c.136C>G (p.Arg46Gly)
|
rs140598745
|
0.00005
|
NM_000130.5(F5):c.165T>C (p.Asn55=)
|
rs781434840
|
0.00005
|
NM_000130.5(F5):c.244A>G (p.Ile82Val)
|
rs377674263
|
0.00005
|
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
|
rs780253174
|
0.00005
|
NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr)
|
rs188882337
|
0.00005
|
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)
|
rs369276714
|
0.00005
|
NM_000130.5(F5):c.3801T>C (p.Leu1267=)
|
rs559683767
|
0.00005
|
NM_000130.5(F5):c.6589A>G (p.Ile2197Val)
|
rs372005449
|
0.00005
|
NM_000132.4(F8):c.121G>T (p.Gly41Cys)
|
rs137852379
|
0.00005
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000132.4(F8):c.2840C>G (p.Pro947Arg)
|
rs782318401
|
0.00005
|
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys)
|
rs781886601
|
0.00005
|
NM_000133.4(F9):c.315C>T (p.Gly105=)
|
rs757434127
|
0.00005
|
NM_000133.4(F9):c.507C>G (p.Ser169=)
|
rs565055999
|
0.00005
|
NM_000133.4(F9):c.523C>T (p.Pro175Ser)
|
rs762986355
|
0.00005
|
NM_000133.4(F9):c.991G>A (p.Val331Ile)
|
rs776509489
|
0.00005
|
NM_000312.4(PROC):c.489G>A (p.Ala163=)
|
rs764364831
|
0.00005
|
NM_000312.4(PROC):c.535+10C>A
|
rs779202072
|
0.00005
|
NM_000312.4(PROC):c.541T>G (p.Phe181Val)
|
rs199469470
|
0.00005
|
NM_000312.4(PROC):c.580C>T (p.Arg194Cys)
|
rs371071104
|
0.00005
|
NM_000313.4(PROS1):c.*550G>A
|
rs925792694
|
0.00005
|
NM_000313.4(PROS1):c.*86T>C
|
rs886058925
|
0.00005
|
NM_000313.4(PROS1):c.1247C>T (p.Pro416Leu)
|
rs565325519
|
0.00005
|
NM_000313.4(PROS1):c.1324-3T>G
|
rs200270949
|
0.00005
|
NM_000313.4(PROS1):c.1644+4A>T
|
rs146913514
|
0.00005
|
NM_000313.4(PROS1):c.1707C>T (p.Ser569=)
|
rs566166669
|
0.00005
|
NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn)
|
rs755684845
|
0.00005
|
NM_000313.4(PROS1):c.177C>T (p.Ile59=)
|
rs764115962
|
0.00005
|
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile)
|
rs371885410
|
0.00005
|
NM_000313.4(PROS1):c.235-13T>G
|
rs759071686
|
0.00005
|
NM_000313.4(PROS1):c.469+19G>A
|
rs367971012
|
0.00005
|
NM_000313.4(PROS1):c.563A>G (p.Asn188Ser)
|
rs146070827
|
0.00005
|
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)
|
rs373741115
|
0.00005
|
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn)
|
rs572623850
|
0.00005
|
NM_000412.5(HRG):c.62C>T (p.Pro21Leu)
|
rs141595547
|
0.00005
|
NM_000488.3(SERPINC1):c.-88G>A
|
rs376206880
|
0.00005
|
NM_000488.4(SERPINC1):c.1350C>T (p.Asn450=)
|
rs5879
|
0.00005
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)
|
rs183416252
|
0.00005
|
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)
|
rs372820797
|
0.00005
|
NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile)
|
rs567550044
|
0.00005
|
NM_000506.5(F2):c.978G>A (p.Pro326=)
|
rs142949009
|
0.00005
|
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)
|
rs543016186
|
0.00005
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00005
|
NM_000130.5(F5):c.*1857G>A
|
rs145683103
|
0.00004
|
NM_000130.5(F5):c.1624A>G (p.Ile542Val)
|
rs776949074
|
0.00004
|
NM_000130.5(F5):c.586+11C>A
|
rs199638362
|
0.00004
|
NM_000130.5(F5):c.6241C>G (p.Gln2081Glu)
|
rs201142225
|
0.00004
|
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00004
|
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)
|
rs782127226
|
0.00004
|
NM_000133.4(F9):c.108C>T (p.Asn36=)
|
rs184837275
|
0.00004
|
NM_000133.4(F9):c.277+19C>T
|
rs976283264
|
0.00004
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
NM_000133.4(F9):c.483T>C (p.Tyr161=)
|
rs1047289457
|
0.00004
|
NM_000133.4(F9):c.513A>G (p.Glu171=)
|
rs45473300
|
0.00004
|
NM_000133.4(F9):c.582T>G (p.Thr194=)
|
rs754155651
|
0.00004
|
NM_000133.4(F9):c.658T>A (p.Ser220Thr)
|
rs777361659
|
0.00004
|
NM_000133.4(F9):c.730T>C (p.Leu244=)
|
rs765470577
|
0.00004
|
NM_000133.4(F9):c.834C>T (p.Val278=)
|
rs199844858
|
0.00004
|
NM_000133.4(F9):c.88+16T>A
|
rs773388219
|
0.00004
|
NM_000133.4(F9):c.969A>G (p.Glu323=)
|
rs528270752
|
0.00004
|
NM_000312.4(PROC):c.1065C>T (p.Asn355=)
|
rs548020208
|
0.00004
|
NM_000312.4(PROC):c.1272G>A (p.Glu424=)
|
rs770534863
|
0.00004
|
NM_000312.4(PROC):c.127G>A (p.Ala43Thr)
|
rs767626189
|
0.00004
|
NM_000312.4(PROC):c.39C>T (p.Thr13=)
|
rs748548752
|
0.00004
|
NM_000312.4(PROC):c.535+15A>G
|
rs750881439
|
0.00004
|
NM_000312.4(PROC):c.571G>C (p.Glu191Gln)
|
rs777364878
|
0.00004
|
NM_000312.4(PROC):c.730C>T (p.His244Tyr)
|
rs759557871
|
0.00004
|
NM_000312.4(PROC):c.814C>T (p.Arg272Cys)
|
rs121918154
|
0.00004
|
NM_000312.4(PROC):c.900C>T (p.Ile300=)
|
rs112356403
|
0.00004
|
NM_000312.4(PROC):c.970G>A (p.Gly324Ser)
|
rs571278160
|
0.00004
|
NM_000313.4(PROS1):c.1020C>T (p.Tyr340=)
|
rs374634410
|
0.00004
|
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg)
|
rs138861385
|
0.00004
|
NM_000361.3(THBD):c.277C>A (p.Pro93Thr)
|
rs754342536
|
0.00004
|
NM_000361.3(THBD):c.289G>A (p.Gly97Ser)
|
rs1239586434
|
0.00004
|
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)
|
rs565091601
|
0.00004
|
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln)
|
rs201541724
|
0.00004
|
NM_000488.4(SERPINC1):c.409-11G>T
|
rs545766490
|
0.00004
|
NM_000488.4(SERPINC1):c.553A>G (p.Thr185Ala)
|
rs574547491
|
0.00004
|
NM_000488.4(SERPINC1):c.586T>C (p.Leu196=)
|
rs781696456
|
0.00004
|
NM_000488.4(SERPINC1):c.595G>A (p.Gly199Arg)
|
rs778341415
|
0.00004
|
NM_000488.4(SERPINC1):c.708G>A (p.Ser236=)
|
rs774632265
|
0.00004
|
NM_000488.4(SERPINC1):c.872G>A (p.Arg291His)
|
rs377588972
|
0.00004
|
NM_000488.4(SERPINC1):c.87C>T (p.Cys29=)
|
rs188274879
|
0.00004
|
NM_000506.5(F2):c.285G>A (p.Thr95=)
|
rs147892497
|
0.00004
|
NM_000506.5(F2):c.992C>T (p.Ser331Leu)
|
rs200812621
|
0.00004
|
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)
|
rs750323424
|
0.00004
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
NM_000130.5(F5):c.*1132A>G
|
rs185213313
|
0.00003
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
NM_000130.5(F5):c.111T>A (p.Ala37=)
|
rs537081933
|
0.00003
|
NM_000130.5(F5):c.738A>G (p.Thr246=)
|
rs375739973
|
0.00003
|
NM_000130.5(F5):c.886G>A (p.Ala296Thr)
|
rs748350385
|
0.00003
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_000132.4(F8):c.5806C>T (p.Arg1936Cys)
|
rs781792644
|
0.00003
|
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)
|
rs782363141
|
0.00003
|
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala)
|
rs139348729
|
0.00003
|
NM_000132.4(F8):c.733C>T (p.Arg245Trp)
|
rs781943956
|
0.00003
|
NM_000133.4(F9):c.1048T>G (p.Ser350Ala)
|
rs147567879
|
0.00003
|
NM_000133.4(F9):c.1218A>G (p.Ser406=)
|
rs916632342
|
0.00003
|
NM_000133.4(F9):c.333C>T (p.Asp111=)
|
rs139289585
|
0.00003
|
NM_000133.4(F9):c.391+4A>G
|
rs749754992
|
0.00003
|
NM_000133.4(F9):c.392-20G>A
|
rs765091341
|
0.00003
|
NM_000133.4(F9):c.423C>T (p.Cys141=)
|
rs150041781
|
0.00003
|
NM_000133.4(F9):c.520+19T>C
|
rs368644284
|
0.00003
|
NM_000133.4(F9):c.621T>C (p.Ala207=)
|
rs1307382807
|
0.00003
|
NM_000133.4(F9):c.712T>G (p.Phe238Val)
|
rs143128467
|
0.00003
|
NM_000133.4(F9):c.966C>T (p.Asp322=)
|
rs373107855
|
0.00003
|
NM_000312.4(PROC):c.1066C>T (p.Arg356Cys)
|
rs776173921
|
0.00003
|
NM_000312.4(PROC):c.112C>T (p.Arg38Trp)
|
rs769900251
|
0.00003
|
NM_000312.4(PROC):c.113G>A (p.Arg38Gln)
|
rs773107370
|
0.00003
|
NM_000312.4(PROC):c.1200C>T (p.Gly400=)
|
rs780422419
|
0.00003
|
NM_000312.4(PROC):c.1222G>A (p.Ala408Thr)
|
rs374259918
|
0.00003
|
NM_000312.4(PROC):c.1318C>T (p.Arg440Cys)
|
rs886054848
|
0.00003
|
NM_000312.4(PROC):c.237+15G>A
|
rs528055589
|
0.00003
|
NM_000312.4(PROC):c.400+9G>A
|
rs1275885497
|
0.00003
|
NM_000312.4(PROC):c.468C>G (p.Gly156=)
|
rs201105510
|
0.00003
|
NM_000312.4(PROC):c.534A>G (p.Ala178=)
|
rs368367611
|
0.00003
|
NM_000312.4(PROC):c.638T>C (p.Ile213Thr)
|
rs753097748
|
0.00003
|
NM_000312.4(PROC):c.752C>T (p.Ala251Val)
|
rs568121876
|
0.00003
|
NM_000312.4(PROC):c.876C>G (p.Ser292Arg)
|
rs1688669245
|
0.00003
|
NM_000313.4(PROS1):c.1191T>C (p.Ile397=)
|
rs751672587
|
0.00003
|
NM_000313.4(PROS1):c.1229C>A (p.Pro410His)
|
rs199469495
|
0.00003
|
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser)
|
rs748858986
|
0.00003
|
NM_000313.4(PROS1):c.1295G>A (p.Arg432Gln)
|
rs1320598375
|
0.00003
|
NM_000313.4(PROS1):c.1333C>T (p.Arg445Cys)
|
rs5017719
|
0.00003
|
NM_000313.4(PROS1):c.1352G>A (p.Arg451Gln)
|
rs571772261
|
0.00003
|
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu)
|
rs748630360
|
0.00003
|
NM_000313.4(PROS1):c.1564G>A (p.Val522Ile)
|
rs758927346
|
0.00003
|
NM_000313.4(PROS1):c.1566T>A (p.Val522=)
|
rs753144615
|
0.00003
|
NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp)
|
rs121918476
|
0.00003
|
NM_000313.4(PROS1):c.234G>A (p.Thr78=)
|
rs145399944
|
0.00003
|
NM_000313.4(PROS1):c.269G>A (p.Arg90His)
|
rs200886866
|
0.00003
|
NM_000313.4(PROS1):c.346+5G>A
|
rs865991206
|
0.00003
|
NM_000313.4(PROS1):c.486A>G (p.Lys162=)
|
rs148015989
|
0.00003
|
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys)
|
rs575777099
|
0.00003
|
NM_000313.4(PROS1):c.707T>G (p.Leu236Arg)
|
rs778562750
|
0.00003
|
NM_000313.4(PROS1):c.727+8G>C
|
rs373359406
|
0.00003
|
NM_000313.4(PROS1):c.77-1G>C
|
rs759677822
|
0.00003
|
NM_000313.4(PROS1):c.864C>T (p.Cys288=)
|
rs554787241
|
0.00003
|
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe)
|
rs776866172
|
0.00003
|
NM_000361.3(THBD):c.59C>A (p.Pro20His)
|
rs369921060
|
0.00003
|
NM_000361.3(THBD):c.716C>T (p.Ala239Val)
|
rs886056547
|
0.00003
|
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)
|
rs773254902
|
0.00003
|
NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)
|
rs756459428
|
0.00003
|
NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=)
|
rs559277597
|
0.00003
|
NM_000488.4(SERPINC1):c.219G>A (p.Pro73=)
|
rs746429528
|
0.00003
|
NM_000488.4(SERPINC1):c.370C>T (p.Leu124=)
|
rs758698144
|
0.00003
|
NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
|
rs532883680
|
0.00003
|
NM_000488.4(SERPINC1):c.99C>T (p.His33=)
|
rs147676453
|
0.00003
|
NM_000506.5(F2):c.*44G>T
|
rs759287343
|
0.00003
|
NM_000506.5(F2):c.1298+19G>A
|
rs753976233
|
0.00003
|
NM_000506.5(F2):c.316+16G>A
|
rs775927207
|
0.00003
|
NM_000506.5(F2):c.350G>A (p.Arg117Gln)
|
rs532445027
|
0.00003
|
NM_000506.5(F2):c.814G>A (p.Val272Met)
|
rs199558597
|
0.00003
|
NM_000506.5(F2):c.874+13G>A
|
rs764029414
|
0.00003
|
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp)
|
rs764131110
|
0.00003
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)
|
rs574132670
|
0.00003
|
NC_000002.12:g.127418412T>C
|
rs1055939684
|
0.00002
|
NM_000130.5(F5):c.*1043T>A
|
rs991084730
|
0.00002
|
NM_000130.5(F5):c.1321C>T (p.Arg441Cys)
|
rs747006175
|
0.00002
|
NM_000130.5(F5):c.1777G>T (p.Val593Leu)
|
rs1051217891
|
0.00002
|
NM_000130.5(F5):c.281T>C (p.Val94Ala)
|
rs751093518
|
0.00002
|
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)
|
rs373880789
|
0.00002
|
NM_000130.5(F5):c.5729C>T (p.Pro1910Leu)
|
rs200805004
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.323A>C (p.Lys108Thr)
|
rs137852384
|
0.00002
|
NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr)
|
rs782123880
|
0.00002
|
NM_000132.4(F8):c.5999-11G>A
|
rs782132907
|
0.00002
|
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)
|
rs137852467
|
0.00002
|
NM_000133.4(F9):c.1254A>G (p.Glu418=)
|
rs769888700
|
0.00002
|
NM_000133.4(F9):c.1284T>C (p.Ile428=)
|
rs1300185736
|
0.00002
|
NM_000133.4(F9):c.163T>A (p.Phe55Ile)
|
rs759987427
|
0.00002
|
NM_000133.4(F9):c.192T>C (p.Cys64=)
|
rs1261374056
|
0.00002
|
NM_000133.4(F9):c.253-3T>C
|
rs1374440076
|
0.00002
|
NM_000133.4(F9):c.301C>G (p.Pro101Ala)
|
rs137852232
|
0.00002
|
NM_000133.4(F9):c.456G>A (p.Lys152=)
|
rs780347965
|
0.00002
|
NM_000133.4(F9):c.465C>T (p.Cys155=)
|
rs375658633
|
0.00002
|
NM_000133.4(F9):c.48C>A (p.Thr16=)
|
rs768833956
|
0.00002
|
NM_000133.4(F9):c.54C>T (p.Cys18=)
|
rs1337284408
|
0.00002
|
NM_000133.4(F9):c.584T>G (p.Val195Gly)
|
rs374674030
|
0.00002
|
NM_000133.4(F9):c.723+15T>C
|
rs368102494
|
0.00002
|
NM_000133.4(F9):c.724-4A>G
|
rs755261990
|
0.00002
|
NM_000312.4(PROC):c.*72C>A
|
rs546314105
|
0.00002
|
NM_000312.4(PROC):c.1015G>A (p.Val339Met)
|
rs121918158
|
0.00002
|
NM_000312.4(PROC):c.1122C>T (p.Ser374=)
|
rs187228759
|
0.00002
|
NM_000312.4(PROC):c.1233C>T (p.His411=)
|
rs777430545
|
0.00002
|
NM_000312.4(PROC):c.160A>T (p.Ser54Cys)
|
rs376049280
|
0.00002
|
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)
|
rs757583846
|
0.00002
|
NM_000312.4(PROC):c.386G>A (p.Arg129His)
|
rs746190838
|
0.00002
|
NM_000312.4(PROC):c.400+5G>C
|
rs199469478
|
0.00002
|
NM_000312.4(PROC):c.566G>A (p.Arg189Gln)
|
rs1270397879
|
0.00002
|
NM_000312.4(PROC):c.596G>A (p.Arg199Gln)
|
rs773327173
|
0.00002
|
NM_000312.4(PROC):c.60A>G (p.Pro20=)
|
rs1282935697
|
0.00002
|
NM_000312.4(PROC):c.810G>C (p.Leu270=)
|
rs371007615
|
0.00002
|
NM_000312.4(PROC):c.811C>T (p.Arg271Trp)
|
rs767112991
|
0.00002
|
NM_000312.4(PROC):c.825G>C (p.Lys275Asn)
|
rs753825629
|
0.00002
|
NM_000312.4(PROC):c.91G>A (p.Glu31Lys)
|
rs779710709
|
0.00002
|
NM_000312.4(PROC):c.925G>A (p.Ala309Thr)
|
rs121918146
|
0.00002
|
NM_000312.4(PROC):c.969C>T (p.Ser323=)
|
rs568793026
|
0.00002
|
NM_000313.4(PROS1):c.*301A>G
|
rs569117154
|
0.00002
|
NM_000313.4(PROS1):c.1044G>A (p.Ala348=)
|
rs375245889
|
0.00002
|
NM_000313.4(PROS1):c.1107C>T (p.Ser369=)
|
rs138227513
|
0.00002
|
NM_000313.4(PROS1):c.1483A>G (p.Ile495Val)
|
rs745470312
|
0.00002
|
NM_000313.4(PROS1):c.1629C>T (p.Thr543=)
|
rs773166529
|
0.00002
|
NM_000313.4(PROS1):c.1752G>A (p.Leu584=)
|
rs772250170
|
0.00002
|
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)
|
rs766423432
|
0.00002
|
NM_000313.4(PROS1):c.2018C>A (p.Thr673Lys)
|
rs1465989734
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000313.4(PROS1):c.234+11A>G
|
rs376139110
|
0.00002
|
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
|
rs778731080
|
0.00002
|
NM_000313.4(PROS1):c.444T>C (p.Gly148=)
|
rs1282740437
|
0.00002
|
NM_000313.4(PROS1):c.48C>A (p.Leu16=)
|
rs559292587
|
0.00002
|
NM_000313.4(PROS1):c.496A>C (p.Asn166His)
|
rs758625995
|
0.00002
|
NM_000313.4(PROS1):c.966-17C>G
|
rs199469490
|
0.00002
|
NM_000361.3(THBD):c.1429G>A (p.Gly477Ser)
|
rs1338801052
|
0.00002
|
NM_000361.3(THBD):c.1614C>A (p.His538Gln)
|
rs1436540579
|
0.00002
|
NM_000361.3(THBD):c.1678G>C (p.Glu560Gln)
|
rs201487514
|
0.00002
|
NM_000361.3(THBD):c.415G>T (p.Ala139Ser)
|
rs982068192
|
0.00002
|
NM_000361.3(THBD):c.844G>C (p.Ala282Pro)
|
rs771123665
|
0.00002
|
NM_000488.4(SERPINC1):c.201C>T (p.Gly67=)
|
rs773751914
|
0.00002
|
NM_000488.4(SERPINC1):c.633A>G (p.Ala211=)
|
rs780062808
|
0.00002
|
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys)
|
rs764695432
|
0.00002
|
NM_000488.4(SERPINC1):c.883G>A (p.Val295Met)
|
rs201381904
|
0.00002
|
NM_000506.5(F2):c.882C>T (p.Ala294=)
|
rs370819135
|
0.00002
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)
|
rs371085894
|
0.00002
|
NC_000001.11:g.173917430G>C
|
rs1658038847
|
0.00001
|
NM_000130.5(F5):c.*1613A>G
|
rs939304311
|
0.00001
|
NM_000130.5(F5):c.*1699G>T
|
rs537882111
|
0.00001
|
NM_000130.5(F5):c.*390C>T
|
rs886045538
|
0.00001
|
NM_000130.5(F5):c.*872C>T
|
rs922113998
|
0.00001
|
NM_000130.5(F5):c.1545C>T (p.Ile515=)
|
rs886045551
|
0.00001
|
NM_000130.5(F5):c.1659G>A (p.Glu553=)
|
rs370739570
|
0.00001
|
NM_000130.5(F5):c.276T>G (p.Ala92=)
|
rs769639191
|
0.00001
|
NM_000130.5(F5):c.3255A>C (p.Thr1085=)
|
rs6006
|
0.00001
|
NM_000130.5(F5):c.374G>A (p.Gly125Asp)
|
rs760694648
|
0.00001
|
NM_000130.5(F5):c.3810C>G (p.Ala1270=)
|
rs781657137
|
0.00001
|
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys)
|
rs538359973
|
0.00001
|
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu)
|
rs886045546
|
0.00001
|
NM_000130.5(F5):c.5001G>A (p.Pro1667=)
|
rs747456938
|
0.00001
|
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln)
|
rs886045544
|
0.00001
|
NM_000130.5(F5):c.538G>A (p.Glu180Lys)
|
rs143152035
|
0.00001
|
NM_000130.5(F5):c.5408A>G (p.His1803Arg)
|
rs754104059
|
0.00001
|
NM_000130.5(F5):c.5788+4A>T
|
rs759428783
|
0.00001
|
NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)
|
rs768425862
|
0.00001
|
NM_000130.5(F5):c.6164G>A (p.Arg2055Gln)
|
rs886045542
|
0.00001
|
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)
|
rs1384690038
|
0.00001
|
NM_000130.5(F5):c.6298C>T (p.Arg2100Cys)
|
rs775843029
|
0.00001
|
NM_000130.5(F5):c.6360G>A (p.Lys2120=)
|
rs757104503
|
0.00001
|
NM_000130.5(F5):c.6459T>C (p.Tyr2153=)
|
rs773618429
|
0.00001
|
NM_000130.5(F5):c.936C>T (p.Thr312=)
|
rs758832130
|
0.00001
|
NM_000132.4(F8):c.1030A>C (p.Lys344Gln)
|
rs782395704
|
0.00001
|
NM_000132.4(F8):c.1601T>C (p.Val534Ala)
|
rs1557281261
|
0.00001
|
NM_000132.4(F8):c.1649G>A (p.Arg550His)
|
rs137852418
|
0.00001
|
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
|
rs137852428
|
0.00001
|
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)
|
rs137852436
|
0.00001
|
NM_000132.4(F8):c.2732A>G (p.Asp911Gly)
|
rs782671808
|
0.00001
|
NM_000132.4(F8):c.3986G>A (p.Arg1329His)
|
rs782767347
|
0.00001
|
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser)
|
rs781812149
|
0.00001
|
NM_000132.4(F8):c.5976G>A (p.Met1992Ile)
|
rs782510443
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
|
rs1475665992
|
0.00001
|
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)
|
rs1472169963
|
0.00001
|
NM_000133.4(F9):c.-35G>A
|
rs1166164399
|
0.00001
|
NM_000133.4(F9):c.1024A>G (p.Thr342Ala)
|
rs1603267362
|
0.00001
|
NM_000133.4(F9):c.1026G>A (p.Thr342=)
|
rs954954812
|
0.00001
|
NM_000133.4(F9):c.106A>G (p.Asn36Asp)
|
rs1169714103
|
0.00001
|
NM_000133.4(F9):c.109G>A (p.Ala37Thr)
|
rs367569299
|
0.00001
|
NM_000133.4(F9):c.1128T>G (p.Leu376=)
|
rs1928118214
|
0.00001
|
NM_000133.4(F9):c.1134C>T (p.Asp378=)
|
rs1485359328
|
0.00001
|
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)
|
rs137852261
|
0.00001
|
NM_000133.4(F9):c.1170C>T (p.Ile390=)
|
rs1436679699
|
0.00001
|
NM_000133.4(F9):c.1174A>G (p.Asn392Asp)
|
rs1603267412
|
0.00001
|
NM_000133.4(F9):c.1185C>T (p.Phe395=)
|
rs1928122247
|
0.00001
|
NM_000133.4(F9):c.1190C>T (p.Ala397Val)
|
rs758194285
|
0.00001
|
NM_000133.4(F9):c.1191T>C (p.Ala397=)
|
rs777757344
|
0.00001
|
NM_000133.4(F9):c.1209T>C (p.Gly403=)
|
rs900302000
|
0.00001
|
NM_000133.4(F9):c.122T>G (p.Leu41Arg)
|
rs371373268
|
0.00001
|
NM_000133.4(F9):c.1269T>C (p.Ser423=)
|
rs774786079
|
0.00001
|
NM_000133.4(F9):c.1290C>T (p.Ser430=)
|
rs762229532
|
0.00001
|
NM_000133.4(F9):c.130C>T (p.Pro44Ser)
|
rs776894974
|
0.00001
|
NM_000133.4(F9):c.1365G>A (p.Lys455=)
|
rs1928133934
|
0.00001
|
NM_000133.4(F9):c.149G>C (p.Gly50Ala)
|
rs1229048705
|
0.00001
|
NM_000133.4(F9):c.154T>C (p.Leu52=)
|
rs1470729875
|
0.00001
|
NM_000133.4(F9):c.194T>C (p.Met65Thr)
|
rs1447797624
|
0.00001
|
NM_000133.4(F9):c.252+14C>T
|
rs756055116
|
0.00001
|
NM_000133.4(F9):c.252+15A>G
|
rs780142245
|
0.00001
|
NM_000133.4(F9):c.252+18A>G
|
rs779432737
|
0.00001
|
NM_000133.4(F9):c.294G>A (p.Glu98=)
|
rs751604122
|
0.00001
|
NM_000133.4(F9):c.354G>A (p.Trp118Ter)
|
rs1234002716
|
0.00001
|
NM_000133.4(F9):c.384T>C (p.Cys128=)
|
rs780435919
|
0.00001
|
NM_000133.4(F9):c.392-10C>T
|
rs1027316695
|
0.00001
|
NM_000133.4(F9):c.399A>G (p.Thr133=)
|
rs1296392687
|
0.00001
|
NM_000133.4(F9):c.459G>A (p.Val153=)
|
rs144314232
|
0.00001
|
NM_000133.4(F9):c.520+9C>A
|
rs1453342028
|
0.00001
|
NM_000133.4(F9):c.521-7T>C
|
rs2520801303
|
0.00001
|
NM_000133.4(F9):c.555A>G (p.Gln185=)
|
rs1603265792
|
0.00001
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
NM_000133.4(F9):c.572G>A (p.Arg191His)
|
rs137852238
|
0.00001
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
NM_000133.4(F9):c.714C>T (p.Phe238=)
|
rs769442375
|
0.00001
|
NM_000133.4(F9):c.723+7T>C
|
rs970573926
|
0.00001
|
NM_000133.4(F9):c.738T>C (p.Gly246=)
|
rs1569332597
|
0.00001
|
NM_000133.4(F9):c.792T>G (p.Thr264=)
|
rs1384943012
|
0.00001
|
NM_000133.4(F9):c.838+17A>C
|
rs1243459677
|
0.00001
|
NM_000133.4(F9):c.839-16A>G
|
rs765500776
|
0.00001
|
NM_000133.4(F9):c.844C>T (p.His282Tyr)
|
rs763399530
|
0.00001
|
NM_000133.4(F9):c.879G>A (p.Lys293=)
|
rs1228996371
|
0.00001
|
NM_000133.4(F9):c.89-20A>G
|
rs2520743527
|
0.00001
|
NM_000133.4(F9):c.89-9A>G
|
rs1462034593
|
0.00001
|
NM_000133.4(F9):c.890T>A (p.Ile297Asn)
|
rs752084251
|
0.00001
|
NM_000133.4(F9):c.894A>C (p.Arg298=)
|
rs780516722
|
0.00001
|
NM_000133.4(F9):c.936C>T (p.Tyr312=)
|
rs748996457
|
0.00001
|
NM_000133.4(F9):c.972C>T (p.Pro324=)
|
rs1475170749
|
0.00001
|
NM_000133.4(F9):c.990C>T (p.Tyr330=)
|
rs1928109999
|
0.00001
|
NM_000133.4(F9):c.9C>T (p.Arg3=)
|
rs1335753805
|
0.00001
|
NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu)
|
rs121912420
|
0.00001
|
NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)
|
rs563129167
|
0.00001
|
NM_000185.4(SERPIND1):c.700C>T (p.Leu234Phe)
|
rs773928062
|
0.00001
|
NM_000312.4(PROC):c.*176T>C
|
rs150393087
|
0.00001
|
NM_000312.4(PROC):c.-55C>T
|
rs886054845
|
0.00001
|
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser)
|
rs121918150
|
0.00001
|
NM_000312.4(PROC):c.1005G>C (p.Gln335His)
|
rs1247902323
|
0.00001
|
NM_000312.4(PROC):c.1019C>T (p.Thr340Met)
|
rs766261022
|
0.00001
|
NM_000312.4(PROC):c.1043G>A (p.Arg348Gln)
|
rs201827066
|
0.00001
|
NM_000312.4(PROC):c.1077C>G (p.Val359=)
|
rs766061833
|
0.00001
|
NM_000312.4(PROC):c.1099G>A (p.Val367Met)
|
rs140582220
|
0.00001
|
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu)
|
rs1211098698
|
0.00001
|
NM_000312.4(PROC):c.1110C>A (p.His370Gln)
|
rs778063605
|
0.00001
|
NM_000312.4(PROC):c.1120A>G (p.Ser374Gly)
|
rs757880924
|
0.00001
|
NM_000312.4(PROC):c.1166G>C (p.Gly389Ala)
|
rs1305782685
|
0.00001
|
NM_000312.4(PROC):c.1177G>A (p.Asp393Asn)
|
rs1052269597
|
0.00001
|
NM_000312.4(PROC):c.1180C>T (p.Arg394Trp)
|
rs759316085
|
0.00001
|
NM_000312.4(PROC):c.118C>T (p.Arg40Cys)
|
rs199514227
|
0.00001
|
NM_000312.4(PROC):c.1195G>A (p.Glu399Lys)
|
rs764239787
|
0.00001
|
NM_000312.4(PROC):c.1196A>C (p.Glu399Ala)
|
rs201399407
|
0.00001
|
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn)
|
rs142742242
|
0.00001
|
NM_000312.4(PROC):c.1218G>A (p.Met406Ile)
|
rs780456728
|
0.00001
|
NM_000312.4(PROC):c.1221C>T (p.Val407=)
|
rs747775229
|
0.00001
|
NM_000312.4(PROC):c.1237A>G (p.Thr413Ala)
|
rs572021052
|
0.00001
|
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser)
|
rs768759265
|
0.00001
|
NM_000312.4(PROC):c.1249G>C (p.Val417Leu)
|
rs144760718
|
0.00001
|
NM_000312.4(PROC):c.124C>T (p.Arg42Cys)
|
rs774572099
|
0.00001
|
NM_000312.4(PROC):c.125G>A (p.Arg42His)
|
rs369504169
|
0.00001
|
NM_000312.4(PROC):c.1296C>T (p.Tyr432=)
|
rs765303744
|
0.00001
|
NM_000312.4(PROC):c.1307C>T (p.Thr436Ile)
|
rs1188357717
|
0.00001
|
NM_000312.4(PROC):c.1321T>C (p.Tyr441His)
|
rs753436021
|
0.00001
|
NM_000312.4(PROC):c.1326C>T (p.Leu442=)
|
rs748650244
|
0.00001
|
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu)
|
rs200012319
|
0.00001
|
NM_000312.4(PROC):c.1335C>G (p.Ile445Met)
|
rs121918157
|
0.00001
|
NM_000312.4(PROC):c.1338T>C (p.His446=)
|
rs1381198827
|
0.00001
|
NM_000312.4(PROC):c.186G>A (p.Glu62=)
|
rs1276731365
|
0.00001
|
NM_000312.4(PROC):c.206C>T (p.Ala69Val)
|
rs984698204
|
0.00001
|
NM_000312.4(PROC):c.262+18C>T
|
rs763358321
|
0.00001
|
NM_000312.4(PROC):c.286C>T (p.Pro96Ser)
|
rs774908523
|
0.00001
|
NM_000312.4(PROC):c.340G>C (p.Gly114Arg)
|
rs374476971
|
0.00001
|
NM_000312.4(PROC):c.372C>G (p.Ser124Arg)
|
rs939496684
|
0.00001
|
NM_000312.4(PROC):c.400G>T (p.Glu134Ter)
|
rs1257816310
|
0.00001
|
NM_000312.4(PROC):c.41G>A (p.Trp14Ter)
|
rs758576042
|
0.00001
|
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr)
|
rs1247269491
|
0.00001
|
NM_000312.4(PROC):c.445dup (p.His149fs)
|
rs772629538
|
0.00001
|
NM_000312.4(PROC):c.446A>C (p.His149Pro)
|
rs121918159
|
0.00001
|
NM_000312.4(PROC):c.479G>C (p.Cys160Ser)
|
rs1450037999
|
0.00001
|
NM_000312.4(PROC):c.51C>T (p.Ser17=)
|
rs770171684
|
0.00001
|
NM_000312.4(PROC):c.524G>A (p.Cys175Tyr)
|
rs199469474
|
0.00001
|
NM_000312.4(PROC):c.528C>T (p.His176=)
|
rs1483588887
|
0.00001
|
NM_000312.4(PROC):c.535+9C>T
|
rs1178807938
|
0.00001
|
NM_000312.4(PROC):c.560G>A (p.Trp187Ter)
|
rs897196091
|
0.00001
|
NM_000312.4(PROC):c.595C>T (p.Arg199Ter)
|
rs1456533664
|
0.00001
|
NM_000312.4(PROC):c.602C>T (p.Thr201Ile)
|
rs886054847
|
0.00001
|
NM_000312.4(PROC):c.629C>T (p.Pro210Leu)
|
rs121918145
|
0.00001
|
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)
|
rs121918143
|
0.00001
|
NM_000312.4(PROC):c.658C>T (p.Arg220Trp)
|
rs121918152
|
0.00001
|
NM_000312.4(PROC):c.659G>A (p.Arg220Gln)
|
rs121918153
|
0.00001
|
NM_000312.4(PROC):c.660G>A (p.Arg220=)
|
rs1688487502
|
0.00001
|
NM_000312.4(PROC):c.678+9C>T
|
rs1053253907
|
0.00001
|
NM_000312.4(PROC):c.679-19T>C
|
rs1688552606
|
0.00001
|
NM_000312.4(PROC):c.699G>T (p.Lys233Asn)
|
rs1296711132
|
0.00001
|
NM_000312.4(PROC):c.70+13C>G
|
rs200660332
|
0.00001
|
NM_000312.4(PROC):c.702G>A (p.Lys234=)
|
rs1382362525
|
0.00001
|
NM_000312.4(PROC):c.728T>C (p.Ile243Thr)
|
rs774584131
|
0.00001
|
NM_000312.4(PROC):c.759C>A (p.His253Gln)
|
rs1458669732
|
0.00001
|
NM_000312.4(PROC):c.797-4G>A
|
rs112862143
|
0.00001
|
NM_000312.4(PROC):c.837C>T (p.Asp279=)
|
rs778740796
|
0.00001
|
NM_000312.4(PROC):c.852G>A (p.Glu284=)
|
rs780286813
|
0.00001
|
NM_000312.4(PROC):c.881G>A (p.Ser294Asn)
|
rs200721675
|
0.00001
|
NM_000312.4(PROC):c.888C>T (p.Thr296=)
|
rs759229398
|
0.00001
|
NM_000312.4(PROC):c.901G>A (p.Ala301Thr)
|
rs1343264503
|
0.00001
|
NM_000312.4(PROC):c.902C>T (p.Ala301Val)
|
rs121918144
|
0.00001
|
NM_000312.4(PROC):c.90C>T (p.Ser30=)
|
rs552714462
|
0.00001
|
NM_000312.4(PROC):c.935C>T (p.Ser312Leu)
|
rs121918160
|
0.00001
|
NM_000312.4(PROC):c.936G>A (p.Ser312=)
|
rs199679356
|
0.00001
|
NM_000312.4(PROC):c.962C>T (p.Pro321Leu)
|
rs1321566264
|
0.00001
|
NM_000312.4(PROC):c.980A>T (p.Glu327Val)
|
rs199469480
|
0.00001
|
NM_000313.3(PROS1):c.*1195C>G
|
rs1708129293
|
0.00001
|
NM_000313.3(PROS1):c.-167G>T
|
rs983179502
|
0.00001
|
NM_000313.4(PROS1):c.*385A>G
|
rs1576170245
|
0.00001
|
NM_000313.4(PROS1):c.*737G>C
|
rs538937681
|
0.00001
|
NM_000313.4(PROS1):c.1064G>A (p.Arg355His)
|
rs780863931
|
0.00001
|
NM_000313.4(PROS1):c.1069G>A (p.Gly357Arg)
|
rs941433523
|
0.00001
|
NM_000313.4(PROS1):c.109G>T (p.Val37Phe)
|
rs773551347
|
0.00001
|
NM_000313.4(PROS1):c.1153A>G (p.Met385Val)
|
rs767653920
|
0.00001
|
NM_000313.4(PROS1):c.1156-4G>A
|
rs994196531
|
0.00001
|
NM_000313.4(PROS1):c.1156-6T>C
|
rs753833478
|
0.00001
|
NM_000313.4(PROS1):c.1156-8A>C
|
rs773586094
|
0.00001
|
NM_000313.4(PROS1):c.1187G>A (p.Ser396Asn)
|
rs1343691142
|
0.00001
|
NM_000313.4(PROS1):c.118C>T (p.Arg40Cys)
|
rs772628286
|
0.00001
|
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
|
rs963668412
|
0.00001
|
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr)
|
rs753603433
|
0.00001
|
NM_000313.4(PROS1):c.1323+8T>G
|
rs778473220
|
0.00001
|
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)
|
rs5017717
|
0.00001
|
NM_000313.4(PROS1):c.137T>C (p.Leu46Pro)
|
rs779469907
|
0.00001
|
NM_000313.4(PROS1):c.1457C>G (p.Pro486Arg)
|
rs1350149739
|
0.00001
|
NM_000313.4(PROS1):c.1493-17T>C
|
rs199469501
|
0.00001
|
NM_000313.4(PROS1):c.149A>C (p.Lys50Thr)
|
rs745579260
|
0.00001
|
NM_000313.4(PROS1):c.1500A>G (p.Val500=)
|
rs1184938633
|
0.00001
|
NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys)
|
rs1263937066
|
0.00001
|
NM_000313.4(PROS1):c.1544G>A (p.Arg515His)
|
rs769700380
|
0.00001
|
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala)
|
rs371028997
|
0.00001
|
NM_000313.4(PROS1):c.1617G>T (p.Leu539Phe)
|
rs1338128189
|
0.00001
|
NM_000313.4(PROS1):c.1641A>G (p.Ser547=)
|
rs1445245201
|
0.00001
|
NM_000313.4(PROS1):c.1644+18C>A
|
rs369284039
|
0.00001
|
NM_000313.4(PROS1):c.1654T>C (p.Leu552=)
|
rs776594061
|
0.00001
|
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter)
|
rs199469503
|
0.00001
|
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr)
|
rs750531364
|
0.00001
|
NM_000313.4(PROS1):c.1870+13T>C
|
rs1238611469
|
0.00001
|
NM_000313.4(PROS1):c.1891C>T (p.Pro631Ser)
|
rs1708153020
|
0.00001
|
NM_000313.4(PROS1):c.1902C>T (p.Ala634=)
|
rs751777823
|
0.00001
|
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val)
|
rs141122478
|
0.00001
|
NM_000313.4(PROS1):c.1994C>T (p.Ser665Leu)
|
rs778685576
|
0.00001
|
NM_000313.4(PROS1):c.204C>G (p.Ala68=)
|
rs1060504812
|
0.00001
|
NM_000313.4(PROS1):c.235-12T>C
|
rs1304220524
|
0.00001
|
NM_000313.4(PROS1):c.235-16T>C
|
rs1386130206
|
0.00001
|
NM_000313.4(PROS1):c.235-17C>A
|
rs537153109
|
0.00001
|
NM_000313.4(PROS1):c.259+20A>G
|
rs1708984503
|
0.00001
|
NM_000313.4(PROS1):c.268C>T (p.Arg90Cys)
|
rs765935815
|
0.00001
|
NM_000313.4(PROS1):c.311C>A (p.Thr104Asn)
|
rs753950548
|
0.00001
|
NM_000313.4(PROS1):c.346+15C>T
|
rs1265949362
|
0.00001
|
NM_000313.4(PROS1):c.449A>G (p.Gln150Arg)
|
rs754149240
|
0.00001
|
NM_000313.4(PROS1):c.469+5G>A
|
rs756682607
|
0.00001
|
NM_000313.4(PROS1):c.470-10C>T
|
rs756848962
|
0.00001
|
NM_000313.4(PROS1):c.470A>G (p.Asp157Gly)
|
rs751090951
|
0.00001
|
NM_000313.4(PROS1):c.480A>G (p.Glu160=)
|
rs75078530
|
0.00001
|
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu)
|
rs121918474
|
0.00001
|
NM_000313.4(PROS1):c.601+12A>G
|
rs753550053
|
0.00001
|
NM_000313.4(PROS1):c.708C>G (p.Leu236=)
|
rs1231421585
|
0.00001
|
NM_000313.4(PROS1):c.728-12T>C
|
rs775011352
|
0.00001
|
NM_000313.4(PROS1):c.77-11G>T
|
rs751566951
|
0.00001
|
NM_000313.4(PROS1):c.903C>T (p.Tyr301=)
|
rs760392622
|
0.00001
|
NM_000313.4(PROS1):c.912G>A (p.Glu304=)
|
rs1271603909
|
0.00001
|
NM_000313.4(PROS1):c.946C>T (p.Arg316Cys)
|
rs373983977
|
0.00001
|
NM_000313.4(PROS1):c.963C>T (p.Ser321=)
|
rs569018785
|
0.00001
|
NM_000313.4(PROS1):c.965+15C>T
|
rs201912743
|
0.00001
|
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp)
|
rs536077692
|
0.00001
|
NM_000361.3(THBD):c.1062C>G (p.Asn354Lys)
|
rs375147630
|
0.00001
|
NM_000361.3(THBD):c.1096G>A (p.Val366Met)
|
rs772894484
|
0.00001
|
NM_000361.3(THBD):c.1184C>T (p.Ala395Val)
|
rs759926568
|
0.00001
|
NM_000361.3(THBD):c.119C>T (p.Pro40Leu)
|
rs766710327
|
0.00001
|
NM_000361.3(THBD):c.1209G>T (p.Arg403Ser)
|
rs398122807
|
0.00001
|
NM_000361.3(THBD):c.1319C>T (p.Thr440Met)
|
rs1438620913
|
0.00001
|
NM_000361.3(THBD):c.1357G>A (p.Gly453Arg)
|
rs1189569754
|
0.00001
|
NM_000361.3(THBD):c.1372C>T (p.Leu458Phe)
|
rs1013876326
|
0.00001
|
NM_000361.3(THBD):c.1409C>T (p.Ser470Leu)
|
rs1020559145
|
0.00001
|
NM_000361.3(THBD):c.1411G>A (p.Ala471Thr)
|
rs752252782
|
0.00001
|
NM_000361.3(THBD):c.1499C>T (p.Thr500Met)
|
rs753344243
|
0.00001
|
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser)
|
rs775671453
|
0.00001
|
NM_000361.3(THBD):c.1633G>A (p.Ala545Thr)
|
rs1485310664
|
0.00001
|
NM_000361.3(THBD):c.236G>C (p.Gly79Ala)
|
rs1800577
|
0.00001
|
NM_000361.3(THBD):c.247C>G (p.Arg83Gly)
|
rs748313651
|
0.00001
|
NM_000361.3(THBD):c.254G>A (p.Arg85His)
|
rs1462083784
|
0.00001
|
NM_000361.3(THBD):c.407T>G (p.Leu136Trp)
|
rs550522588
|
0.00001
|
NM_000361.3(THBD):c.448G>A (p.Glu150Lys)
|
rs1292366066
|
0.00001
|
NM_000361.3(THBD):c.483G>T (p.Lys161Asn)
|
rs767341182
|
0.00001
|
NM_000361.3(THBD):c.49T>C (p.Phe17Leu)
|
rs1600410618
|
0.00001
|
NM_000361.3(THBD):c.623C>G (p.Pro208Arg)
|
rs763737197
|
0.00001
|
NM_000361.3(THBD):c.731A>G (p.Asp244Gly)
|
rs1347459395
|
0.00001
|
NM_000361.3(THBD):c.77G>C (p.Gly26Ala)
|
rs757422951
|
0.00001
|
NM_000412.5(HRG):c.227C>T (p.Ser76Leu)
|
rs1455246341
|
0.00001
|
NM_000412.5(HRG):c.271C>T (p.Pro91Ser)
|
rs761776963
|
0.00001
|
NM_000412.5(HRG):c.736C>A (p.Pro246Thr)
|
rs780950869
|
0.00001
|
NM_000412.5(HRG):c.946C>T (p.Pro316Ser)
|
rs903824710
|
0.00001
|
NM_000488.4(SERPINC1):c.1008G>C (p.Leu336=)
|
rs749129128
|
0.00001
|
NM_000488.4(SERPINC1):c.1054A>G (p.Met352Val)
|
rs886045594
|
0.00001
|
NM_000488.4(SERPINC1):c.1060C>T (p.Arg354Cys)
|
rs765761813
|
0.00001
|
NM_000488.4(SERPINC1):c.1063T>G (p.Phe355Val)
|
rs1035744320
|
0.00001
|
NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)
|
rs767683540
|
0.00001
|
NM_000488.4(SERPINC1):c.1119C>T (p.Val373=)
|
rs1271197978
|
0.00001
|
NM_000488.4(SERPINC1):c.1154-14G>C
|
rs542881762
|
0.00001
|
NM_000488.4(SERPINC1):c.1218+7A>G
|
rs899914657
|
0.00001
|
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
|
rs1657379892
|
0.00001
|
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)
|
rs121909568
|
0.00001
|
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys)
|
rs121909554
|
0.00001
|
NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=)
|
rs773792958
|
0.00001
|
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr)
|
rs1487411568
|
0.00001
|
NM_000488.4(SERPINC1):c.132G>A (p.Pro44=)
|
rs774506712
|
0.00001
|
NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=)
|
rs1263564864
|
0.00001
|
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)
|
rs768704768
|
0.00001
|
NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser)
|
rs376029223
|
0.00001
|
NM_000488.4(SERPINC1):c.138C>T (p.Asp46=)
|
rs775397662
|
0.00001
|
NM_000488.4(SERPINC1):c.17T>C (p.Ile6Thr)
|
rs753713846
|
0.00001
|
NM_000488.4(SERPINC1):c.192G>A (p.Glu64=)
|
rs1462236331
|
0.00001
|
NM_000488.4(SERPINC1):c.223G>A (p.Ala75Thr)
|
rs1297895835
|
0.00001
|
NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln)
|
rs774294043
|
0.00001
|
NM_000488.4(SERPINC1):c.237T>C (p.Arg79=)
|
rs781591817
|
0.00001
|
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr)
|
rs1445653081
|
0.00001
|
NM_000488.4(SERPINC1):c.342T>C (p.Ser114=)
|
rs369954987
|
0.00001
|
NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile)
|
rs371222224
|
0.00001
|
NM_000488.4(SERPINC1):c.382A>T (p.Asn128Tyr)
|
rs1657908048
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000488.4(SERPINC1):c.408+4C>T
|
rs201551398
|
0.00001
|
NM_000488.4(SERPINC1):c.41+12G>A
|
rs767005471
|
0.00001
|
NM_000488.4(SERPINC1):c.42-15T>C
|
rs749037999
|
0.00001
|
NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)
|
rs1170430756
|
0.00001
|
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)
|
rs765445413
|
0.00001
|
NM_000488.4(SERPINC1):c.468C>T (p.Ala156=)
|
rs759369437
|
0.00001
|
NM_000488.4(SERPINC1):c.530G>A (p.Arg177His)
|
rs878854020
|
0.00001
|
NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)
|
rs1657783890
|
0.00001
|
NM_000488.4(SERPINC1):c.598G>C (p.Ala200Pro)
|
rs483352853
|
0.00001
|
NM_000488.4(SERPINC1):c.625-5C>G
|
rs1315832378
|
0.00001
|
NM_000488.4(SERPINC1):c.648G>A (p.Ala216=)
|
rs767468032
|
0.00001
|
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)
|
rs121909571
|
0.00001
|
NM_000488.4(SERPINC1):c.669C>A (p.Ser223=)
|
rs749583360
|
0.00001
|
NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)
|
rs1572089542
|
0.00001
|
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter)
|
rs1657743081
|
0.00001
|
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr)
|
rs749510661
|
0.00001
|
NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)
|
rs144084678
|
0.00001
|
NM_000488.4(SERPINC1):c.750C>A (p.Thr250=)
|
rs1018454989
|
0.00001
|
NM_000488.4(SERPINC1):c.756C>T (p.Tyr252=)
|
rs745970800
|
0.00001
|
NM_000488.4(SERPINC1):c.79T>C (p.Trp27Arg)
|
rs1165816584
|
0.00001
|
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)
|
rs758087836
|
0.00001
|
NM_000488.4(SERPINC1):c.834G>A (p.Ser278=)
|
rs753390084
|
0.00001
|
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
|
rs759821949
|
0.00001
|
NM_000488.4(SERPINC1):c.881G>A (p.Arg294His)
|
rs587776397
|
0.00001
|
NM_000488.4(SERPINC1):c.914C>A (p.Pro305His)
|
rs549991084
|
0.00001
|
NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)
|
rs2526571100
|
0.00001
|
NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe)
|
rs1657686098
|
0.00001
|
NM_000488.4(SERPINC1):c.975C>G (p.Ala325=)
|
rs200857896
|
0.00001
|
NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)
|
rs773399107
|
0.00001
|
NM_000506.5(F2):c.1037C>T (p.Ser346Leu)
|
rs552341778
|
0.00001
|
NM_000506.5(F2):c.1814_1815del (p.His605fs)
|
rs776618390
|
0.00001
|
NM_000506.5(F2):c.730G>T (p.Ala244Ser)
|
rs886048334
|
0.00001
|
NM_000506.5(F2):c.915G>A (p.Glu305=)
|
rs886048335
|
0.00001
|
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)
|
rs545086633
|
0.00001
|
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=)
|
rs1428673436
|
0.00001
|
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
|
rs773360881
|
0.00001
|
NM_005957.5(MTHFR):c.1632+2T>G
|
rs749765738
|
0.00001
|
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)
|
rs763539350
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)
|
rs121434297
|
0.00001
|
AT-III Barcelona
|
|
|
AT-III Fontainebleu
|
|
|
AT-III Roma
|
|
|
AT-III Trento
|
|
|
C223R
|
|
|
Multiple alleles
|
|
|
NC_000001.10:g.(?_173873027)_(173962123_?)del
|
|
|
NC_000001.10:g.(?_173876568)_(173879100_?)dup
|
|
|
NC_000001.10:g.(?_173876568)_(173886568_?)dup
|
|
|
NC_000001.10:g.(?_173880917)_(173886568_?)del
|
|
|
NC_000001.10:g.(?_173883671)_(173886568_?)del
|
|
|
NC_000001.11:g.(?_173903804)_(173917378_?)del
|
|
|
NC_000001.11:g.172987296_174843232del
|
|
|
NC_000001.11:g.173501975_175305010del
|
|
|
NC_000001.11:g.173686375_176083118del
|
|
|
NC_000001.11:g.173787361_174223422del
|
|
|
NC_000001.11:g.173848142_174816147del
|
|
|
NC_000001.11:g.173850996_173950174del
|
|
|
NC_000001.11:g.173859535_173926473del
|
|
|
NC_000001.11:g.173878539_174421154del
|
|
|
NC_000001.11:g.173879820_173915405del
|
|
|
NC_000001.11:g.173879820_173925989del
|
|
|
NC_000001.11:g.173881395_174342043del
|
|
|
NC_000001.11:g.173884504_174418717del
|
|
|
NC_000001.11:g.173888460_174138926del
|
|
|
NC_000001.11:g.173888461_173971254del
|
|
|
NC_000001.11:g.173896668_173942868del
|
|
|
NC_000001.11:g.173905922_173905923ins[NC_000006.11:56893618_56896059]
|
|
|
NC_000001.11:g.173908412_173919816dup
|
|
|
NC_000001.11:g.173908511_174102900del
|
|
|
NC_000001.11:g.173911749_173917428del
|
|
|
NC_000001.11:g.173912160_174154195del
|
|
|
NC_000001.11:g.173914640_173922032del
|
|
|
NC_000001.11:g.173916290_173918404del
|
|
|
NC_000001.11:g.173916704_173935703del
|
|
|
NC_000002.11:g.(?_127806102)_(129076137_?)del
|
|
|
NC_000002.11:g.(?_128175983)_(128184818_?)del
|
|
|
NC_000002.11:g.(?_128176278)_(128177573_?)del
|
|
|
NC_000002.12:g.127418425T>C
|
rs2104934553
|
|
NC_000003.11:g.(?_93593089)_(93772107_?)dup
|
|
|
NC_000003.11:g.(?_93593089)_(93845334_?)del
|
|
|
NC_000003.11:g.(?_93595790)_(93596055_?)del
|
|
|
NC_000003.11:g.(?_93597987)_(93598178_?)del
|
|
|
NC_000003.11:g.(?_93605147)_(93617433_?)del
|
|
|
NC_000003.11:g.(?_93615400)_(93617433_?)del
|
|
|
NC_000003.11:g.(?_93629453)_(93692783_?)del
|
|
|
NC_000003.11:g.(?_93646084)_(93647651_?)dup
|
|
|
NC_000003.12:g.(?_93874239)_(94053268_?)del
|
|
|
NC_000003.12:g.(?_93879163)_(93879314_?)del
|
|
|
NC_000003.12:g.(?_93924230)_(93973939_?)del
|
|
|
NC_000023.10:g.(?_138612860)_(138613021_?)del
|
|
|
NC_000023.10:g.(?_138612860)_(138643034_?)dup
|
|
|
NC_000023.10:g.(?_138612860)_(138914348_?)dup
|
|
|
NC_000023.10:g.(?_138612860)_(139587225_?)del
|
|
|
NC_000023.10:g.(?_138633201)_(138633443_?)del
|
|
|
NC_000023.11:g.(?_139530701)_(139563439_?)del
|
|
|
NC_000023.11:g.(?_139530759)_(139562076_?)del
|
|
|
NC_000023.11:g.(?_139541049)_(139563439_?)del
|
|
|
NC_000023.11:g.139529943A>G
|
rs411017
|
|
NC_000023.11:g.139530038T>C
|
rs378815
|
|
NC_000023.11:g.139530731A>G
|
rs1927322453
|
|
NG_011403.2:g.2731_26150dup
|
|
|
NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser)
|
rs2480517458
|
|
NM_000129.4(F13A1):c.490G>C (p.Val164Leu)
|
|
|
NM_000129.4(F13A1):c.521G>T (p.Ser174Ile)
|
|
|
NM_000129.4(F13A1):c.523C>T (p.Arg175Ter)
|
|
|
NM_000129.4(F13A1):c.603_606del (p.Arg202fs)
|
rs1416626948
|
|
NM_000130.4(F5):c.-110C>A
|
rs886045552
|
|
NM_000130.5(F5):c.*104A>C
|
rs886045540
|
|
NM_000130.5(F5):c.*1301A>T
|
rs1557902119
|
|
NM_000130.5(F5):c.*1436T>A
|
rs9332678
|
|
NM_000130.5(F5):c.*1531C>T
|
rs1659060074
|
|
NM_000130.5(F5):c.*157A>T
|
rs886045539
|
|
NM_000130.5(F5):c.*1939T>C
|
rs886045535
|
|
NM_000130.5(F5):c.*2148C>T
|
rs369159875
|
|
NM_000130.5(F5):c.*2328G>C
|
rs6427196
|
|
NM_000130.5(F5):c.*2351C>A
|
rs542773186
|
|
NM_000130.5(F5):c.*366A>G
|
rs1659095114
|
|
NM_000130.5(F5):c.*400C>G
|
rs886045537
|
|
NM_000130.5(F5):c.1059del (p.Phe353fs)
|
|
|
NM_000130.5(F5):c.112G>A (p.Ala38Thr)
|
rs184663825
|
|
NM_000130.5(F5):c.1160T>C (p.Ile387Thr)
|
rs118203911
|
|
NM_000130.5(F5):c.1253T>C (p.Ile418Thr)
|
|
|
NM_000130.5(F5):c.1284A>T (p.Arg428Ser)
|
|
|
NM_000130.5(F5):c.1297-1G>C
|
|
|
NM_000130.5(F5):c.1340C>G (p.Pro447Arg)
|
rs368387623
|
|
NM_000130.5(F5):c.1546G>T (p.Ala516Ser)
|
rs916286148
|
|
NM_000130.5(F5):c.1700G>A (p.Cys567Tyr)
|
rs2526406532
|
|
NM_000130.5(F5):c.1830_1831dup (p.His611fs)
|
rs1571577365
|
|
NM_000130.5(F5):c.2021del (p.Lys674fs)
|
rs986891825
|
|
NM_000130.5(F5):c.2042A>G (p.Asp681Gly)
|
rs886045550
|
|
NM_000130.5(F5):c.2079T>G (p.Tyr693Ter)
|
|
|
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)
|
rs575766548
|
|
NM_000130.5(F5):c.2846del (p.Leu949fs)
|
|
|
NM_000130.5(F5):c.3261C>G (p.Pro1087=)
|
rs886045549
|
|
NM_000130.5(F5):c.3269A>G (p.Asp1090Gly)
|
rs1659859528
|
|
NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr)
|
rs886045548
|
|
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala)
|
rs543751483
|
|
NM_000130.5(F5):c.3691A>C (p.Ile1231Leu)
|
rs1338927825
|
|
NM_000130.5(F5):c.3865T>C (p.Phe1289Leu)
|
rs781371990
|
|
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu)
|
rs112331368
|
|
NM_000130.5(F5):c.4013A>C (p.Asn1338Thr)
|
rs1418336095
|
|
NM_000130.5(F5):c.413dup (p.Met138fs)
|
rs2526445474
|
|
NM_000130.5(F5):c.4172T>C (p.Met1391Thr)
|
rs771458343
|
|
NM_000130.5(F5):c.4281G>A (p.Met1427Ile)
|
rs1485361538
|
|
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg)
|
rs751749207
|
|
NM_000130.5(F5):c.439G>T (p.Glu147Ter)
|
rs118203912
|
|
NM_000130.5(F5):c.478C>T (p.Pro160Ser)
|
|
|
NM_000130.5(F5):c.4796+3T>C
|
|
|
NM_000130.5(F5):c.4962_4971+3del
|
rs1240137844
|
|
NM_000130.5(F5):c.5037dup (p.Ser1680fs)
|
rs754982088
|
|
NM_000130.5(F5):c.5144G>A (p.Arg1715Gln)
|
rs1194089741
|
|
NM_000130.5(F5):c.5209-12_5209-11del
|
rs886045545
|
|
NM_000130.5(F5):c.522C>T (p.Ser174=)
|
rs777533725
|
|
NM_000130.5(F5):c.5308G>A (p.Val1770Ile)
|
rs374815777
|
|
NM_000130.5(F5):c.5419+11C>G
|
rs6008
|
|
NM_000130.5(F5):c.5419+11C>T
|
rs6008
|
|
NM_000130.5(F5):c.5453del (p.Leu1818fs)
|
rs750012108
|
|
NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)
|
rs1557908012
|
|
NM_000130.5(F5):c.564G>C (p.Gly188=)
|
rs1557573
|
|
NM_000130.5(F5):c.5721T>C (p.Cys1907=)
|
rs886045543
|
|
NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)
|
rs1659399281
|
|
NM_000130.5(F5):c.5789-7A>C
|
rs1659369778
|
|
NM_000130.5(F5):c.5816T>G (p.Leu1939Ter)
|
|
|
NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)
|
rs2526347206
|
|
NM_000130.5(F5):c.6259T>C (p.Phe2087Leu)
|
|
|
NM_000130.5(F5):c.6407T>C (p.Ile2136Thr)
|
|
|
NM_000130.5(F5):c.6629A>T (p.Gln2210Leu)
|
rs886045541
|
|
NM_000132.4(F8):c.1264G>C (p.Asp422His)
|
rs370737113
|
|
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
|
rs1258333672
|
|
NM_000132.4(F8):c.1336C>T (p.Arg446Ter)
|
rs137852372
|
|
NM_000132.4(F8):c.1571C>T (p.Pro524Leu)
|
|
|
NM_000132.4(F8):c.1752+5G>T
|
rs2124094299
|
|
NM_000132.4(F8):c.192_193del (p.Tyr65fs)
|
|
|
NM_000132.4(F8):c.2113+461_2113+473del
|
rs781928603
|
|
NM_000132.4(F8):c.225T>A (p.Asp75Glu)
|
|
|
NM_000132.4(F8):c.265+4A>G
|
|
|
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)
|
rs387906452
|
|
NM_000132.4(F8):c.4379dup (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.5096A>G (p.Tyr1699Cys)
|
|
|
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu)
|
rs1557278259
|
|
NM_000132.4(F8):c.5703C>A (p.Ile1901=)
|
rs782721473
|
|
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
|
rs387906460
|
|
NM_000132.4(F8):c.6506G>A (p.Arg2169His)
|
rs137852461
|
|
NM_000132.4(F8):c.6518C>G (p.Thr2173Ser)
|
|
|
NM_000132.4(F8):c.783del (p.Pro262fs)
|
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
NM_000133.4(F9):c.*828GT[6]
|
rs35599944
|
|
NM_000133.4(F9):c.-17A>G
|
rs1927322926
|
|
NM_000133.4(F9):c.-19C>G
|
rs761036720
|
|
NM_000133.4(F9):c.1002T>A (p.Ile334=)
|
rs2520844611
|
|
NM_000133.4(F9):c.1025C>T (p.Thr342Met)
|
rs137852254
|
|
NM_000133.4(F9):c.102T>C (p.His34=)
|
rs2520743760
|
|
NM_000133.4(F9):c.1046G>A (p.Gly349Glu)
|
rs1928113004
|
|
NM_000133.4(F9):c.1058T>C (p.Val353Ala)
|
rs137852255
|
|
NM_000133.4(F9):c.1062T>A (p.Ser354Arg)
|
rs2148367882
|
|
NM_000133.4(F9):c.1062T>C (p.Ser354=)
|
rs2148367882
|
|
NM_000133.4(F9):c.1067G>A (p.Trp356Ter)
|
rs1479241411
|
|
NM_000133.4(F9):c.1073G>C (p.Arg358Thr)
|
rs2520845445
|
|
NM_000133.4(F9):c.1074A>G (p.Arg358=)
|
rs751992311
|
|
NM_000133.4(F9):c.1077C>A (p.Val359=)
|
rs2148367918
|
|
NM_000133.4(F9):c.1079T>C (p.Phe360Ser)
|
rs2520845534
|
|
NM_000133.4(F9):c.1090A>C (p.Arg364=)
|
rs2148367924
|
|
NM_000133.4(F9):c.1094C>G (p.Ser365Ter)
|
rs2520845719
|
|
NM_000133.4(F9):c.1105C>T (p.Leu369Phe)
|
rs2148367939
|
|
NM_000133.4(F9):c.1106T>C (p.Leu369Pro)
|
rs1603267393
|
|
NM_000133.4(F9):c.1107T>A (p.Leu369=)
|
rs750955240
|
|
NM_000133.4(F9):c.1108C>T (p.Gln370Ter)
|
rs1928116697
|
|
NM_000133.4(F9):c.1112A>G (p.Tyr371Cys)
|
|
|
NM_000133.4(F9):c.1119A>G (p.Arg373=)
|
rs2520846054
|
|
NM_000133.4(F9):c.1135C>T (p.Arg379Ter)
|
rs137852258
|
|
NM_000133.4(F9):c.1136G>A (p.Arg379Gln)
|
rs137852259
|
|
NM_000133.4(F9):c.1144T>C (p.Cys382Arg)
|
rs137852260
|
|
NM_000133.4(F9):c.1147C>G (p.Leu383Val)
|
rs1677128088
|
|
NM_000133.4(F9):c.1148T>A (p.Leu383His)
|
rs1387119011
|
|
NM_000133.4(F9):c.1148T>C (p.Leu383Pro)
|
rs1387119011
|
|
NM_000133.4(F9):c.1151G>T (p.Arg384Leu)
|
rs137852283
|
|
NM_000133.4(F9):c.1161del (p.Lys387fs)
|
rs2520846572
|
|
NM_000133.4(F9):c.1164C>T (p.Phe388=)
|
rs2148368027
|
|
NM_000133.4(F9):c.1182G>A (p.Met394Ile)
|
rs1388797589
|
|
NM_000133.4(F9):c.1183T>A (p.Phe395Ile)
|
rs1175050951
|
|
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr)
|
rs137852273
|
|
NM_000133.4(F9):c.1206A>T (p.Gly402=)
|
rs2520847056
|
|
NM_000133.4(F9):c.1213G>T (p.Asp405Tyr)
|
rs1928123614
|
|
NM_000133.4(F9):c.1217C>G (p.Ser406Ter)
|
|
|
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
|
rs1465724732
|
|
NM_000133.4(F9):c.1230T>C (p.Asp410=)
|
rs2520847449
|
|
NM_000133.4(F9):c.1231A>G (p.Ser411Gly)
|
rs137852277
|
|
NM_000133.4(F9):c.1233T>C (p.Ser411=)
|
rs2520847494
|
|
NM_000133.4(F9):c.1242C>T (p.Pro414=)
|
rs1293155742
|
|
NM_000133.4(F9):c.1249A>G (p.Thr417Ala)
|
|
|
NM_000133.4(F9):c.1251T>C (p.Thr417=)
|
rs1928127281
|
|
NM_000133.4(F9):c.1255G>A (p.Val419Met)
|
rs1928127579
|
|
NM_000133.4(F9):c.1257G>A (p.Val419=)
|
rs61731481
|
|
NM_000133.4(F9):c.1272C>A (p.Phe424Leu)
|
rs2520848016
|
|
NM_000133.4(F9):c.1276A>C (p.Thr426Pro)
|
rs1928129466
|
|
NM_000133.4(F9):c.127C>T (p.Arg43Trp)
|
rs1603264205
|
|
NM_000133.4(F9):c.1281A>G (p.Gly427=)
|
rs2148368224
|
|
NM_000133.4(F9):c.128G>A (p.Arg43Gln)
|
rs1275708479
|
|
NM_000133.4(F9):c.1292G>T (p.Trp431Leu)
|
rs1928130087
|
|
NM_000133.4(F9):c.1293G>T (p.Trp431Cys)
|
rs1371750567
|
|
NM_000133.4(F9):c.1294G>A (p.Gly432Ser)
|
rs1170838100
|
|
NM_000133.4(F9):c.1295G>C (p.Gly432Ala)
|
rs1928130497
|
|
NM_000133.4(F9):c.1296T>C (p.Gly432=)
|
rs2148368246
|
|
NM_000133.4(F9):c.1296T>G (p.Gly432=)
|
rs2148368246
|
|
NM_000133.4(F9):c.129G>A (p.Arg43=)
|
rs2148356042
|
|
NM_000133.4(F9):c.1302G>A (p.Glu434=)
|
rs2148368257
|
|
NM_000133.4(F9):c.1305T>C (p.Cys435=)
|
rs2148368264
|
|
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)
|
rs137852268
|
|
NM_000133.4(F9):c.1332T>C (p.Tyr444=)
|
rs1928132545
|
|
NM_000133.4(F9):c.1338G>C (p.Lys446Asn)
|
|
|
NM_000133.4(F9):c.1344C>T (p.Ser448=)
|
rs2148368307
|
|
NM_000133.4(F9):c.1345C>A (p.Arg449=)
|
rs757996262
|
|
NM_000133.4(F9):c.1347G>A (p.Arg449=)
|
rs1433326581
|
|
NM_000133.4(F9):c.1347G>T (p.Arg449=)
|
rs1433326581
|
|
NM_000133.4(F9):c.1358G>A (p.Trp453Ter)
|
rs2148368332
|
|
NM_000133.4(F9):c.135G>A (p.Lys45=)
|
rs2520744264
|
|
NM_000133.4(F9):c.1377G>A (p.Lys459=)
|
rs1177599320
|
|
NM_000133.4(F9):c.1380C>T (p.Leu460=)
|
rs2148368357
|
|
NM_000133.4(F9):c.141T>C (p.Tyr47=)
|
rs1556435929
|
|
NM_000133.4(F9):c.141_151del (p.Tyr47_Lys51delinsTer)
|
|
|
NM_000133.4(F9):c.142A>G (p.Asn48Asp)
|
rs1927493197
|
|
NM_000133.4(F9):c.148G>A (p.Gly50Ser)
|
rs1556435940
|
|
NM_000133.4(F9):c.15C>T (p.Asn5=)
|
rs1281720529
|
|
NM_000133.4(F9):c.160G>A (p.Glu54Lys)
|
|
|
NM_000133.4(F9):c.163T>C (p.Phe55Leu)
|
rs759987427
|
|
NM_000133.4(F9):c.177C>T (p.Asn59=)
|
rs139089559
|
|
NM_000133.4(F9):c.182A>G (p.Glu61Gly)
|
rs2148356134
|
|
NM_000133.4(F9):c.191G>A (p.Cys64Tyr)
|
rs1330779541
|
|
NM_000133.4(F9):c.201A>G (p.Glu67=)
|
rs2520745367
|
|
NM_000133.4(F9):c.211T>C (p.Phe71Leu)
|
|
|
NM_000133.4(F9):c.223C>T (p.Arg75Ter)
|
rs137852227
|
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
|
NM_000133.4(F9):c.236A>T (p.Glu79Val)
|
rs1468904853
|
|
NM_000133.4(F9):c.237_247del (p.Thr81fs)
|
rs2148356221
|
|
NM_000133.4(F9):c.251C>T (p.Thr84Ile)
|
rs1354291965
|
|
NM_000133.4(F9):c.252+12C>T
|
rs2520746505
|
|
NM_000133.4(F9):c.252+16T>C
|
rs1238151524
|
|
NM_000133.4(F9):c.252+20A>G
|
rs2520746608
|
|
NM_000133.4(F9):c.253-12T>C
|
rs770212542
|
|
NM_000133.4(F9):c.253-1G>C
|
rs1434866164
|
|
NM_000133.4(F9):c.253-8C>T
|
rs775962002
|
|
NM_000133.4(F9):c.267G>A (p.Lys89=)
|
rs1927507472
|
|
NM_000133.4(F9):c.268C>T (p.Gln90Ter)
|
|
|
NM_000133.4(F9):c.273T>C (p.Tyr91=)
|
rs142980421
|
|
NM_000133.4(F9):c.277+14T>C
|
rs1370460273
|
|
NM_000133.4(F9):c.277+7A>G
|
rs2520748354
|
|
NM_000133.4(F9):c.278-11C>T
|
|
|
NM_000133.4(F9):c.278-12C>T
|
rs1475223858
|
|
NM_000133.4(F9):c.278-13A>C
|
rs1927589088
|
|
NM_000133.4(F9):c.278-3A>G
|
rs398122990
|
|
NM_000133.4(F9):c.278-4A>G
|
|
|
NM_000133.4(F9):c.27A>C (p.Ala9=)
|
rs2520718136
|
|
NM_000133.4(F9):c.280G>A (p.Gly94Arg)
|
rs1556437035
|
|
NM_000133.4(F9):c.302C>A (p.Pro101Gln)
|
rs2148357901
|
|
NM_000133.4(F9):c.303A>G (p.Pro101=)
|
rs2520762835
|
|
NM_000133.4(F9):c.314G>T (p.Gly105Val)
|
|
|
NM_000133.4(F9):c.324C>T (p.Cys108=)
|
rs2520763076
|
|
NM_000133.4(F9):c.336T>C (p.Ile112=)
|
rs2148357946
|
|
NM_000133.4(F9):c.339T>C (p.Asn113=)
|
rs2520763228
|
|
NM_000133.4(F9):c.342C>T (p.Ser114=)
|
rs2148357955
|
|
NM_000133.4(F9):c.344A>G (p.Tyr115Cys)
|
rs1603264727
|
|
NM_000133.4(F9):c.356G>A (p.Cys119Tyr)
|
rs1349887620
|
|
NM_000133.4(F9):c.364G>A (p.Gly122Arg)
|
rs770120402
|
|
NM_000133.4(F9):c.368T>C (p.Phe123Ser)
|
rs1927592901
|
|
NM_000133.4(F9):c.36A>G (p.Pro12=)
|
rs2520718241
|
|
NM_000133.4(F9):c.382T>C (p.Cys128Arg)
|
rs2520763530
|
|
NM_000133.4(F9):c.384T>A (p.Cys128Ter)
|
rs780435919
|
|
NM_000133.4(F9):c.391+11A>G
|
|
|
NM_000133.4(F9):c.391+9C>G
|
rs2520763744
|
|
NM_000133.4(F9):c.392-20_392-17del
|
rs769388791
|
|
NM_000133.4(F9):c.392-7C>A
|
rs757272947
|
|
NM_000133.4(F9):c.392-7_392-4del
|
rs2148361119
|
|
NM_000133.4(F9):c.402T>C (p.Cys134=)
|
rs1320024216
|
|
NM_000133.4(F9):c.412A>C (p.Asn138His)
|
rs2520790255
|
|
NM_000133.4(F9):c.413A>G (p.Asn138Ser)
|
rs2148361153
|
|
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs)
|
rs2520790212
|
|
NM_000133.4(F9):c.426G>A (p.Glu142=)
|
rs2148361169
|
|
NM_000133.4(F9):c.430T>C (p.Phe144Leu)
|
rs2148361174
|
|
NM_000133.4(F9):c.444T>C (p.Ser148=)
|
rs2520790598
|
|
NM_000133.4(F9):c.44T>A (p.Ile15Asn)
|
rs1927326780
|
|
NM_000133.4(F9):c.471T>C (p.Cys157=)
|
rs1603265493
|
|
NM_000133.4(F9):c.478G>A (p.Gly160Arg)
|
rs1927768022
|
|
NM_000133.4(F9):c.482A>G (p.Tyr161Cys)
|
rs1927768329
|
|
NM_000133.4(F9):c.484C>A (p.Arg162=)
|
|
|
NM_000133.4(F9):c.484C>T (p.Arg162Ter)
|
rs137852272
|
|
NM_000133.4(F9):c.499C>T (p.Gln167Ter)
|
rs2148361240
|
|
NM_000133.4(F9):c.504G>A (p.Lys168=)
|
rs2520791204
|
|
NM_000133.4(F9):c.516A>T (p.Pro172=)
|
rs1462862045
|
|
NM_000133.4(F9):c.518C>G (p.Ala173Gly)
|
|
|
NM_000133.4(F9):c.520+10T>C
|
rs1289621854
|
|
NM_000133.4(F9):c.520+13A>G
|
rs1603265507
|
|
NM_000133.4(F9):c.521-10A>G
|
rs1603265768
|
|
NM_000133.4(F9):c.521-11T>C
|
rs2520801255
|
|
NM_000133.4(F9):c.521-12C>T
|
rs1407012411
|
|
NM_000133.4(F9):c.521-13T>C
|
rs1569330572
|
|
NM_000133.4(F9):c.521-17T>C
|
rs2520801205
|
|
NM_000133.4(F9):c.521-5del
|
rs1320990506
|
|
NM_000133.4(F9):c.522G>A (p.Val174=)
|
rs2148362379
|
|
NM_000133.4(F9):c.532T>C (p.Cys178Arg)
|
rs2148362390
|
|
NM_000133.4(F9):c.545_546del (p.Ser182fs)
|
rs1433656857
|
|
NM_000133.4(F9):c.558T>G (p.Thr186=)
|
rs2520801651
|
|
NM_000133.4(F9):c.570C>G (p.Thr190=)
|
rs2148362421
|
|
NM_000133.4(F9):c.573T>A (p.Arg191=)
|
rs2148362436
|
|
NM_000133.4(F9):c.579G>A (p.Glu193=)
|
rs2148362449
|
|
NM_000133.4(F9):c.582T>C (p.Thr194=)
|
rs754155651
|
|
NM_000133.4(F9):c.589C>T (p.Pro197Ser)
|
rs867548424
|
|
NM_000133.4(F9):c.603T>C (p.Tyr201=)
|
rs755283462
|
|
NM_000133.4(F9):c.615T>C (p.Thr205=)
|
rs2148362491
|
|
NM_000133.4(F9):c.659C>A (p.Ser220Ter)
|
rs2520802842
|
|
NM_000133.4(F9):c.676C>A (p.Arg226=)
|
rs137852240
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000133.4(F9):c.689G>C (p.Gly230Ala)
|
|
|
NM_000133.4(F9):c.699C>T (p.Ala233=)
|
|
|
NM_000133.4(F9):c.718T>G (p.Trp240Gly)
|
rs1390220758
|
|
NM_000133.4(F9):c.723+11C>T
|
rs2520803574
|
|
NM_000133.4(F9):c.723+14A>T
|
rs775384139
|
|
NM_000133.4(F9):c.723G>A (p.Gln241=)
|
rs1182648920
|
|
NM_000133.4(F9):c.732G>A (p.Leu244=)
|
|
|
NM_000133.4(F9):c.735T>C (p.Asn245=)
|
rs2520838987
|
|
NM_000133.4(F9):c.735del (p.Asn245fs)
|
|
|
NM_000133.4(F9):c.742del (p.Val248fs)
|
rs2520839064
|
|
NM_000133.4(F9):c.744T>A (p.Val248=)
|
rs2520839078
|
|
NM_000133.4(F9):c.747T>C (p.Asp249=)
|
rs2148367218
|
|
NM_000133.4(F9):c.750A>T (p.Ala250=)
|
rs907913950
|
|
NM_000133.4(F9):c.755G>A (p.Cys252Tyr)
|
rs267606792
|
|
NM_000133.4(F9):c.762C>G (p.Gly254=)
|
rs2520839248
|
|
NM_000133.4(F9):c.774T>C (p.Asn258=)
|
rs752173947
|
|
NM_000133.4(F9):c.780A>G (p.Lys260=)
|
rs1928080486
|
|
NM_000133.4(F9):c.782G>A (p.Trp261Ter)
|
rs2148367245
|
|
NM_000133.4(F9):c.796G>A (p.Ala266Thr)
|
rs1162048721
|
|
NM_000133.4(F9):c.7C>A (p.Arg3Ser)
|
rs766259893
|
|
NM_000133.4(F9):c.7C>T (p.Arg3Cys)
|
rs766259893
|
|
NM_000133.4(F9):c.801C>T (p.His267=)
|
rs1386380912
|
|
NM_000133.4(F9):c.82T>C (p.Cys28Arg)
|
rs387906481
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000133.4(F9):c.835G>C (p.Ala279Pro)
|
rs137852247
|
|
NM_000133.4(F9):c.838+18A>G
|
rs376791906
|
|
NM_000133.4(F9):c.838+1_838+16del
|
rs2148367304
|
|
NM_000133.4(F9):c.839-1G>A
|
rs1439169192
|
|
NM_000133.4(F9):c.839G>A (p.Gly280Asp)
|
rs1275842849
|
|
NM_000133.4(F9):c.840T>C (p.Gly280=)
|
rs2148367615
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
rs2520842805
|
|
NM_000133.4(F9):c.855G>C (p.Glu285Asp)
|
rs1603267310
|
|
NM_000133.4(F9):c.861A>T (p.Thr287=)
|
rs2148367626
|
|
NM_000133.4(F9):c.86C>T (p.Thr29Ile)
|
rs1927329129
|
|
NM_000133.4(F9):c.87A>G (p.Thr29=)
|
rs2148353000
|
|
NM_000133.4(F9):c.88+10C>G
|
rs1603263402
|
|
NM_000133.4(F9):c.88+10_88+11del
|
rs2148353026
|
|
NM_000133.4(F9):c.88+20A>T
|
rs1569481576
|
|
NM_000133.4(F9):c.88+2T>C
|
rs2148353009
|
|
NM_000133.4(F9):c.88+8T>C
|
rs2520718932
|
|
NM_000133.4(F9):c.880C>T (p.Arg294Ter)
|
rs137852248
|
|
NM_000133.4(F9):c.881G>A (p.Arg294Gln)
|
rs137852249
|
|
NM_000133.4(F9):c.881G>T (p.Arg294Leu)
|
rs137852249
|
|
NM_000133.4(F9):c.885T>C (p.Asn295=)
|
rs2520843150
|
|
NM_000133.4(F9):c.888G>A (p.Val296=)
|
rs2148367656
|
|
NM_000133.4(F9):c.88G>A (p.Val30Ile)
|
rs1603263395
|
|
NM_000133.4(F9):c.89-10del
|
rs2520743602
|
|
NM_000133.4(F9):c.89-14C>A
|
rs2520743577
|
|
NM_000133.4(F9):c.89-15del
|
|
|
NM_000133.4(F9):c.89-19T>A
|
rs2520743542
|
|
NM_000133.4(F9):c.89-3C>A
|
|
|
NM_000133.4(F9):c.89-7A>G
|
rs1603264192
|
|
NM_000133.4(F9):c.892C>T (p.Arg298Ter)
|
rs137852250
|
|
NM_000133.4(F9):c.894A>G (p.Arg298=)
|
rs780516722
|
|
NM_000133.4(F9):c.906C>T (p.His302=)
|
rs2148367678
|
|
NM_000133.4(F9):c.909C>T (p.His303=)
|
rs2148367681
|
|
NM_000133.4(F9):c.944A>G (p.Asp315Gly)
|
rs1928107434
|
|
NM_000133.4(F9):c.945C>T (p.Asp315=)
|
rs2148367722
|
|
NM_000133.4(F9):c.947T>C (p.Ile316Thr)
|
rs1603267344
|
|
NM_000133.4(F9):c.948T>C (p.Ile316=)
|
rs2520844019
|
|
NM_000133.4(F9):c.949G>A (p.Ala317Thr)
|
rs2520844030
|
|
NM_000133.4(F9):c.960A>C (p.Glu320Asp)
|
rs1489951549
|
|
NM_000133.4(F9):c.963G>T (p.Leu321=)
|
rs1928108207
|
|
NM_000133.4(F9):c.984C>G (p.Asn328Lys)
|
rs2520844417
|
|
NM_000133.4(F9):c.990C>A (p.Tyr330Ter)
|
rs1928109999
|
|
NM_000133.4(F9):c.9C>G (p.Arg3=)
|
rs1335753805
|
|
NM_000185.4(SERPIND1):c.1175T>C (p.Val392Ala)
|
|
|
NM_000185.4(SERPIND1):c.1303G>A (p.Asp435Asn)
|
|
|
NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs)
|
rs587777760
|
|
NM_000185.4(SERPIND1):c.220dup (p.Glu74fs)
|
rs1244079448
|
|
NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu)
|
rs5903
|
|
NM_000185.4(SERPIND1):c.321dup (p.Val108fs)
|
rs587777759
|
|
NM_000185.4(SERPIND1):c.488G>C (p.Gly163Ala)
|
rs1188993674
|
|
NM_000185.4(SERPIND1):c.557_558del (p.Phe186fs)
|
|
|
NM_000185.4(SERPIND1):c.940C>T (p.Arg314Trp)
|
|
|
NM_000312.4(PROC):c.*220G>C
|
rs886054849
|
|
NM_000312.4(PROC):c.*81T>C
|
rs1688720421
|
|
NM_000312.4(PROC):c.-21-37G>A
|
|
|
NM_000312.4(PROC):c.-21-74C>T
|
|
|
NM_000312.4(PROC):c.1000G>T (p.Gly334Cys)
|
rs121918150
|
|
NM_000312.4(PROC):c.1005G>A (p.Gln335=)
|
rs1247902323
|
|
NM_000312.4(PROC):c.1010C>T (p.Thr337Ile)
|
rs369881972
|
|
NM_000312.4(PROC):c.1014C>T (p.Leu338=)
|
|
|
NM_000312.4(PROC):c.1019C>A (p.Thr340Lys)
|
rs766261022
|
|
NM_000312.4(PROC):c.1027G>A (p.Gly343Ser)
|
rs121918147
|
|
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter)
|
rs121918141
|
|
NM_000312.4(PROC):c.1048A>G (p.Lys350Glu)
|
rs1191848415
|
|
NM_000312.4(PROC):c.1074C>A (p.Phe358Leu)
|
rs769300513
|
|
NM_000312.4(PROC):c.1074C>T (p.Phe358=)
|
rs769300513
|
|
NM_000312.4(PROC):c.1080C>G (p.Leu360=)
|
rs2104983090
|
|
NM_000312.4(PROC):c.1084T>A (p.Phe362Ile)
|
rs2104983099
|
|
NM_000312.4(PROC):c.1098C>T (p.Pro366=)
|
|
|
NM_000312.4(PROC):c.1117T>A (p.Cys373Ser)
|
rs2468378551
|
|
NM_000312.4(PROC):c.1142T>C (p.Val381Ala)
|
rs2468378721
|
|
NM_000312.4(PROC):c.1154T>C (p.Met385Thr)
|
rs1688692269
|
|
NM_000312.4(PROC):c.1155G>A (p.Met385Ile)
|
rs1688692415
|
|
NM_000312.4(PROC):c.1163C>G (p.Ala388Gly)
|
|
|
NM_000312.4(PROC):c.1163C>T (p.Ala388Val)
|
rs769277939
|
|
NM_000312.4(PROC):c.1164G>A (p.Ala388=)
|
rs373028935
|
|
NM_000312.4(PROC):c.1173C>T (p.Leu391=)
|
|
|
NM_000312.4(PROC):c.1181G>A (p.Arg394Gln)
|
|
|
NM_000312.4(PROC):c.1212dup (p.Pro405fs)
|
rs1333329860
|
|
NM_000312.4(PROC):c.1217T>A (p.Met406Lys)
|
|
|
NM_000312.4(PROC):c.1230C>T (p.Phe410=)
|
rs1688703290
|
|
NM_000312.4(PROC):c.1236C>T (p.Gly412=)
|
|
|
NM_000312.4(PROC):c.1240T>C (p.Trp414Arg)
|
rs2468379693
|
|
NM_000312.4(PROC):c.1242G>A (p.Trp414Ter)
|
rs1558718572
|
|
NM_000312.4(PROC):c.1248G>T (p.Leu416=)
|
rs1688705028
|
|
NM_000312.4(PROC):c.1249G>A (p.Val417Met)
|
rs144760718
|
|
NM_000312.4(PROC):c.1260G>A (p.Val420=)
|
rs2468379851
|
|
NM_000312.4(PROC):c.1265G>A (p.Trp422Ter)
|
rs2468379908
|
|
NM_000312.4(PROC):c.1266G>A (p.Trp422Ter)
|
rs2104984463
|
|
NM_000312.4(PROC):c.1267G>A (p.Gly423Ser)
|
rs1688706297
|
|
NM_000312.4(PROC):c.1268del (p.Gly423fs)
|
rs1688706133
|
|
NM_000312.4(PROC):c.1278T>C (p.Cys426=)
|
rs2104984512
|
|
NM_000312.4(PROC):c.1281G>T (p.Gly427=)
|
|
|
NM_000312.4(PROC):c.1287T>C (p.Leu429=)
|
rs2468380209
|
|
NM_000312.4(PROC):c.1297G>A (p.Gly433Ser)
|
rs1266965698
|
|
NM_000312.4(PROC):c.1305del (p.Val434_Tyr435insTer)
|
rs2104984686
|
|
NM_000312.4(PROC):c.1313T>C (p.Val438Ala)
|
rs1573461697
|
|
NM_000312.4(PROC):c.1329C>T (p.Asp443=)
|
rs2468380565
|
|
NM_000312.4(PROC):c.132C>T (p.Asn44=)
|
rs775598456
|
|
NM_000312.4(PROC):c.1331G>A (p.Trp444Ter)
|
rs1573461792
|
|
NM_000312.4(PROC):c.1332G>C (p.Trp444Cys)
|
rs121918142
|
|
NM_000312.4(PROC):c.1335C>T (p.Ile445=)
|
rs121918157
|
|
NM_000312.4(PROC):c.1368del (p.Lys457fs)
|
rs1573461951
|
|
NM_000312.4(PROC):c.1378_1379dup (p.Pro461fs)
|
rs1573462001
|
|
NM_000312.4(PROC):c.138C>G (p.Phe46Leu)
|
|
|
NM_000312.4(PROC):c.139C>T (p.Leu47=)
|
rs2104944542
|
|
NM_000312.4(PROC):c.144G>A (p.Glu48=)
|
rs2468325161
|
|
NM_000312.4(PROC):c.156C>G (p.His52Gln)
|
rs1558712064
|
|
NM_000312.4(PROC):c.164T>C (p.Leu55Pro)
|
rs2468325276
|
|
NM_000312.4(PROC):c.185A>C (p.Glu62Ala)
|
rs121918148
|
|
NM_000312.4(PROC):c.198C>T (p.Phe66=)
|
rs201463891
|
|
NM_000312.4(PROC):c.199G>A (p.Glu67Lys)
|
rs1448630830
|
|
NM_000312.4(PROC):c.205G>A (p.Ala69Thr)
|
rs2104944789
|
|
NM_000312.4(PROC):c.208A>G (p.Lys70Glu)
|
rs199469481
|
|
NM_000312.4(PROC):c.20T>C (p.Leu7Pro)
|
rs2468318825
|
|
NM_000312.4(PROC):c.236C>G (p.Thr79Arg)
|
rs2468325686
|
|
NM_000312.4(PROC):c.237+18C>A
|
|
|
NM_000312.4(PROC):c.238-12CT[2]
|
|
|
NM_000312.4(PROC):c.238-1G>A
|
rs1553423955
|
|
NM_000312.4(PROC):c.250T>C (p.Ser84Pro)
|
rs1688199561
|
|
NM_000312.4(PROC):c.262+14A>G
|
|
|
NM_000312.4(PROC):c.262+6T>G
|
rs770241629
|
|
NM_000312.4(PROC):c.263-19A>T
|
rs1573442568
|
|
NM_000312.4(PROC):c.263-28T>G
|
rs2104952137
|
|
NM_000312.4(PROC):c.26T>C (p.Leu9Pro)
|
|
|
NM_000312.4(PROC):c.282C>T (p.Val94=)
|
rs1688213562
|
|
NM_000312.4(PROC):c.299C>G (p.Pro100Arg)
|
rs945459808
|
|
NM_000312.4(PROC):c.300G>A (p.Pro100=)
|
rs776372871
|
|
NM_000312.4(PROC):c.300G>C (p.Pro100=)
|
|
|
NM_000312.4(PROC):c.303C>A (p.Cys101Ter)
|
rs764808999
|
|
NM_000312.4(PROC):c.319G>A (p.Gly107Arg)
|
rs1252000412
|
|
NM_000312.4(PROC):c.325G>T (p.Gly109Cys)
|
rs1156578125
|
|
NM_000312.4(PROC):c.326_330dup (p.Cys111fs)
|
rs1688218776
|
|
NM_000312.4(PROC):c.338_346del (p.Asp113_Ile115del)
|
rs2468336862
|
|
NM_000312.4(PROC):c.339C>T (p.Asp113=)
|
|
|
NM_000312.4(PROC):c.340G>T (p.Gly114Cys)
|
rs374476971
|
|
NM_000312.4(PROC):c.346G>C (p.Gly116Arg)
|
rs2468337001
|
|
NM_000312.4(PROC):c.352T>C (p.Phe118Leu)
|
rs1553424043
|
|
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del)
|
rs1436671530
|
|
NM_000312.4(PROC):c.360C>A (p.Cys120Ter)
|
|
|
NM_000312.4(PROC):c.364T>G (p.Cys122Gly)
|
rs2468337187
|
|
NM_000312.4(PROC):c.382G>C (p.Gly128Arg)
|
rs2468337332
|
|
NM_000312.4(PROC):c.388T>C (p.Phe130Leu)
|
rs1558713430
|
|
NM_000312.4(PROC):c.400+1G>A
|
rs1189377845
|
|
NM_000312.4(PROC):c.400+2T>A
|
|
|
NM_000312.4(PROC):c.400+2T>C
|
rs2104953327
|
|
NM_000312.4(PROC):c.400+5G>A
|
|
|
NM_000312.4(PROC):c.400+5G>T
|
rs199469478
|
|
NM_000312.4(PROC):c.400+9del
|
rs746387774
|
|
NM_000312.4(PROC):c.400+9dup
|
rs746387774
|
|
NM_000312.4(PROC):c.401-20G>C
|
|
|
NM_000312.4(PROC):c.419G>C (p.Cys140Ser)
|
rs747735192
|
|
NM_000312.4(PROC):c.421T>C (p.Ser141Pro)
|
rs1573444020
|
|
NM_000312.4(PROC):c.432C>T (p.Asn144=)
|
rs1263344950
|
|
NM_000312.4(PROC):c.433G>A (p.Gly145Ser)
|
rs370813536
|
|
NM_000312.4(PROC):c.436G>T (p.Gly146Cys)
|
|
|
NM_000312.4(PROC):c.441C>T (p.Cys147=)
|
rs2468339543
|
|
NM_000312.4(PROC):c.446A>G (p.His149Arg)
|
rs121918159
|
|
NM_000312.4(PROC):c.452G>T (p.Cys151Phe)
|
rs2468339699
|
|
NM_000312.4(PROC):c.468C>T (p.Gly156=)
|
rs201105510
|
|
NM_000312.4(PROC):c.472C>T (p.Arg158Trp)
|
rs2104954798
|
|
NM_000312.4(PROC):c.483C>T (p.Ser161=)
|
rs1433503391
|
|
NM_000312.4(PROC):c.497A>G (p.Tyr166Cys)
|
rs2468340110
|
|
NM_000312.4(PROC):c.505G>C (p.Gly169Arg)
|
|
|
NM_000312.4(PROC):c.505G>T (p.Gly169Trp)
|
rs989908811
|
|
NM_000312.4(PROC):c.508G>T (p.Asp170Tyr)
|
rs2104954946
|
|
NM_000312.4(PROC):c.520C>T (p.Gln174Ter)
|
rs1434042239
|
|
NM_000312.4(PROC):c.532G>C (p.Ala178Pro)
|
rs1254257945
|
|
NM_000312.4(PROC):c.535+10C>T
|
rs779202072
|
|
NM_000312.4(PROC):c.535+13dup
|
rs1688257183
|
|
NM_000312.4(PROC):c.536-19C>T
|
rs1027355764
|
|
NM_000312.4(PROC):c.547T>C (p.Cys183Arg)
|
rs748920874
|
|
NM_000312.4(PROC):c.548G>T (p.Cys183Phe)
|
rs1284942525
|
|
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs)
|
rs1558715857
|
|
NM_000312.4(PROC):c.561G>A (p.Trp187Ter)
|
rs1558715877
|
|
NM_000312.4(PROC):c.567G>A (p.Arg189=)
|
rs2468358396
|
|
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del)
|
rs199469469
|
|
NM_000312.4(PROC):c.618C>T (p.Asp206=)
|
|
|
NM_000312.4(PROC):c.628C>T (p.Pro210Ser)
|
rs1375064739
|
|
NM_000312.4(PROC):c.632G>A (p.Arg211Gln)
|
rs199469476
|
|
NM_000312.4(PROC):c.632G>T (p.Arg211Leu)
|
rs199469476
|
|
NM_000312.4(PROC):c.635T>C (p.Leu212Pro)
|
rs2468358861
|
|
NM_000312.4(PROC):c.658C>A (p.Arg220=)
|
rs121918152
|
|
NM_000312.4(PROC):c.659G>C (p.Arg220Pro)
|
rs121918153
|
|
NM_000312.4(PROC):c.666C>G (p.Asp222Glu)
|
rs771116175
|
|
NM_000312.4(PROC):c.666C>T (p.Asp222=)
|
rs771116175
|
|
NM_000312.4(PROC):c.673T>C (p.Trp225Arg)
|
rs1277271891
|
|
NM_000312.4(PROC):c.675G>A (p.Trp225Ter)
|
rs757925208
|
|
NM_000312.4(PROC):c.677A>G (p.Gln226Arg)
|
rs2104970575
|
|
NM_000312.4(PROC):c.678+20C>T
|
|
|
NM_000312.4(PROC):c.678G>A (p.Gln226=)
|
rs121918155
|
|
NM_000312.4(PROC):c.678G>C (p.Gln226His)
|
rs121918155
|
|
NM_000312.4(PROC):c.679-13C>A
|
rs2468365850
|
|
NM_000312.4(PROC):c.679-7A>C
|
|
|
NM_000312.4(PROC):c.697AAG[2] (p.Lys235del)
|
rs1688554587
|
|
NM_000312.4(PROC):c.698dup (p.Lys234fs)
|
rs2468366132
|
|
NM_000312.4(PROC):c.69T>C (p.Leu23=)
|
rs2468319152
|
|
NM_000312.4(PROC):c.6G>A (p.Trp2Ter)
|
rs2468318751
|
|
NM_000312.4(PROC):c.70+10C>T
|
rs1202314840
|
|
NM_000312.4(PROC):c.70+12C>T
|
rs1687993255
|
|
NM_000312.4(PROC):c.70+15C>A
|
|
|
NM_000312.4(PROC):c.71-16C>A
|
rs199825649
|
|
NM_000312.4(PROC):c.71-16C>G
|
rs199825649
|
|
NM_000312.4(PROC):c.715G>A (p.Gly239Arg)
|
rs777486993
|
|
NM_000312.4(PROC):c.718G>A (p.Ala240Thr)
|
rs2104974763
|
|
NM_000312.4(PROC):c.723G>T (p.Val241=)
|
rs771095734
|
|
NM_000312.4(PROC):c.735C>G (p.Pro245=)
|
rs775976369
|
|
NM_000312.4(PROC):c.746T>C (p.Leu249Pro)
|
rs375156587
|
|
NM_000312.4(PROC):c.752C>A (p.Ala251Glu)
|
rs568121876
|
|
NM_000312.4(PROC):c.753G>A (p.Ala251=)
|
|
|
NM_000312.4(PROC):c.76G>A (p.Val26Met)
|
rs754243426
|
|
NM_000312.4(PROC):c.780G>A (p.Lys260=)
|
rs1321852028
|
|
NM_000312.4(PROC):c.785T>C (p.Leu262Pro)
|
rs1688564230
|
|
NM_000312.4(PROC):c.790A>G (p.Arg264Gly)
|
rs2468367271
|
|
NM_000312.4(PROC):c.791G>A (p.Arg264Lys)
|
|
|
NM_000312.4(PROC):c.793C>T (p.Leu265Phe)
|
rs121918156
|
|
NM_000312.4(PROC):c.796+10G>A
|
rs751268643
|
|
NM_000312.4(PROC):c.797-20C>T
|
rs2468375737
|
|
NM_000312.4(PROC):c.797-2A>T
|
rs1186036467
|
|
NM_000312.4(PROC):c.797G>A (p.Gly266Glu)
|
rs2468375906
|
|
NM_000312.4(PROC):c.799G>A (p.Glu267Lys)
|
rs1553425185
|
|
NM_000312.4(PROC):c.815G>A (p.Arg272His)
|
rs1302897340
|
|
NM_000312.4(PROC):c.819G>T (p.Trp273Cys)
|
rs1573459299
|
|
NM_000312.4(PROC):c.834G>A (p.Leu278=)
|
|
|
NM_000312.4(PROC):c.837C>A (p.Asp279Glu)
|
rs778740796
|
|
NM_000312.4(PROC):c.848AGG[1] (p.Glu284del)
|
rs752654447
|
|
NM_000312.4(PROC):c.859G>A (p.Val287Ile)
|
|
|
NM_000312.4(PROC):c.862C>T (p.His288Tyr)
|
rs1688667609
|
|
NM_000312.4(PROC):c.866C>T (p.Pro289Leu)
|
rs121918151
|
|
NM_000312.4(PROC):c.874A>G (p.Ser292Gly)
|
rs1688668887
|
|
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
|
rs2468376955
|
|
NM_000312.4(PROC):c.908T>G (p.Leu303Arg)
|
rs1573459781
|
|
NM_000312.4(PROC):c.916G>T (p.Ala306Ser)
|
rs1688673188
|
|
NM_000312.4(PROC):c.917C>T (p.Ala306Val)
|
|
|
NM_000312.4(PROC):c.92A>T (p.Glu31Val)
|
rs2468324840
|
|
NM_000312.4(PROC):c.945A>G (p.Ile315Met)
|
rs1688675049
|
|
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)
|
rs2468324848
|
|
NM_000312.4(PROC):c.965A>G (p.Asp322Gly)
|
rs2104982325
|
|
NM_000312.4(PROC):c.96T>C (p.Arg32=)
|
|
|
NM_000312.4(PROC):c.973C>A (p.Leu325Ile)
|
rs1192356099
|
|
NM_000312.4(PROC):c.982C>T (p.Arg328Cys)
|
rs201907715
|
|
NM_000312.4(PROC):c.983G>A (p.Arg328His)
|
rs1688677671
|
|
NM_000312.4(PROC):c.989T>C (p.Leu330Pro)
|
rs2468377531
|
|
NM_000312.4(PROC):c.997G>A (p.Ala333Thr)
|
rs2468377603
|
|
NM_000312.4(PROC):c.999C>T (p.Ala333=)
|
|
|
NM_000313.4(PROS1):c.*1014T>C
|
rs1708133064
|
|
NM_000313.4(PROS1):c.*1082A>G
|
rs1708131875
|
|
NM_000313.4(PROS1):c.*1167_*1170del
|
rs886058921
|
|
NM_000313.4(PROS1):c.*1186C>T
|
rs1708129465
|
|
NM_000313.4(PROS1):c.*1_*2insSVAelement
|
|
|
NM_000313.4(PROS1):c.*221del
|
rs776969264
|
|
NM_000313.4(PROS1):c.*422G>T
|
rs770100925
|
|
NM_000313.4(PROS1):c.*714T>C
|
rs886058923
|
|
NM_000313.4(PROS1):c.*887C>A
|
rs1708135152
|
|
NM_000313.4(PROS1):c.*972C>T
|
rs538178021
|
|
NM_000313.4(PROS1):c.-116C>T
|
rs886058929
|
|
NM_000313.4(PROS1):c.-60G>C
|
rs368555701
|
|
NM_000313.4(PROS1):c.1009G>A (p.Val337Met)
|
|
|
NM_000313.4(PROS1):c.1055T>G (p.Ile352Ser)
|
rs1708455723
|
|
NM_000313.4(PROS1):c.105C>T (p.Val35=)
|
|
|
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)
|
rs387906674
|
|
NM_000313.4(PROS1):c.1076T>C (p.Ile359Thr)
|
|
|
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly)
|
rs1576180176
|
|
NM_000313.4(PROS1):c.1084C>A (p.Gln362Lys)
|
rs1559931820
|
|
NM_000313.4(PROS1):c.1084C>T (p.Gln362Ter)
|
rs1559931820
|
|
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
|
rs2107150039
|
|
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro)
|
rs2107150027
|
|
NM_000313.4(PROS1):c.111T>C (p.Val37=)
|
rs886058928
|
|
NM_000313.4(PROS1):c.1124G>T (p.Gly375Val)
|
rs2472125782
|
|
NM_000313.4(PROS1):c.1140T>C (p.Asn380=)
|
rs1384074710
|
|
NM_000313.4(PROS1):c.1142dup (p.Leu382fs)
|
|
|
NM_000313.4(PROS1):c.1146A>G (p.Leu382=)
|
rs1282696011
|
|
NM_000313.4(PROS1):c.1147T>C (p.Trp383Arg)
|
rs1708453757
|
|
NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter)
|
rs1708453639
|
|
NM_000313.4(PROS1):c.1155+12G>C
|
|
|
NM_000313.4(PROS1):c.1155+2T>C
|
rs1262633928
|
|
NM_000313.4(PROS1):c.1155+4C>G
|
rs548576399
|
|
NM_000313.4(PROS1):c.1155+5G>A
|
rs199469494
|
|
NM_000313.4(PROS1):c.1156-10T>G
|
rs764951889
|
|
NM_000313.4(PROS1):c.1156-20A>G
|
|
|
NM_000313.4(PROS1):c.1179_1180dup (p.Ser394fs)
|
rs2472117896
|
|
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter)
|
rs2472117875
|
|
NM_000313.4(PROS1):c.119G>A (p.Arg40His)
|
rs7614835
|
|
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)
|
rs7614835
|
|
NM_000313.4(PROS1):c.1204G>T (p.Glu402Ter)
|
rs1553809314
|
|
NM_000313.4(PROS1):c.1218T>C (p.Asp406=)
|
rs2472117813
|
|
NM_000313.4(PROS1):c.121C>T (p.Arg41Cys)
|
rs768994686
|
|
NM_000313.4(PROS1):c.1230T>C (p.Pro410=)
|
rs2472117762
|
|
NM_000313.4(PROS1):c.1241T>C (p.Phe414Ser)
|
rs2472117727
|
|
NM_000313.4(PROS1):c.1253dup (p.Asn418fs)
|
rs2472117699
|
|
NM_000313.4(PROS1):c.1265A>G (p.Glu422Gly)
|
rs2472117680
|
|
NM_000313.4(PROS1):c.1281T>C (p.Phe427=)
|
|
|
NM_000313.4(PROS1):c.1294C>G (p.Arg432Gly)
|
rs370129669
|
|
NM_000313.4(PROS1):c.1323+4A>G
|
|
|
NM_000313.4(PROS1):c.1323_1323+1del
|
rs1708347661
|
|
NM_000313.4(PROS1):c.1324-4T>G
|
rs2472115348
|
|
NM_000313.4(PROS1):c.1324-6del
|
rs762002556
|
|
NM_000313.4(PROS1):c.1324-9A>G
|
rs2107137679
|
|
NM_000313.4(PROS1):c.1335T>C (p.Arg445=)
|
rs2107137629
|
|
NM_000313.4(PROS1):c.1335T>G (p.Arg445=)
|
rs2107137629
|
|
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro)
|
rs2107137626
|
|
NM_000313.4(PROS1):c.1340A>T (p.Asp447Val)
|
|
|
NM_000313.4(PROS1):c.1345T>A (p.Cys449Ser)
|
rs2472115284
|
|
NM_000313.4(PROS1):c.1398T>C (p.Ile466=)
|
rs1708323464
|
|
NM_000313.4(PROS1):c.1424G>A (p.Cys475Tyr)
|
rs766692725
|
|
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)
|
rs766692725
|
|
NM_000313.4(PROS1):c.1445G>T (p.Gly482Val)
|
rs1553809108
|
|
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys)
|
rs1576175763
|
|
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser)
|
rs1323663956
|
|
NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg)
|
rs2472115014
|
|
NM_000313.4(PROS1):c.1460G>A (p.Gly487Asp)
|
rs2107137352
|
|
NM_000313.4(PROS1):c.1464T>C (p.Ser488=)
|
rs2107137350
|
|
NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)
|
rs762438750
|
|
NM_000313.4(PROS1):c.1476A>G (p.Gln492=)
|
|
|
NM_000313.4(PROS1):c.1479T>A (p.Phe493Leu)
|
rs1454230372
|
|
NM_000313.4(PROS1):c.1490A>G (p.Tyr497Cys)
|
rs2472114971
|
|
NM_000313.4(PROS1):c.1492+14C>A
|
|
|
NM_000313.4(PROS1):c.1492+6T>G
|
rs1576175723
|
|
NM_000313.4(PROS1):c.1493-9T>C
|
rs2472107367
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala)
|
rs121918472
|
|
NM_000313.4(PROS1):c.1506T>C (p.Ser502=)
|
rs1254236549
|
|
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)
|
rs2472107297
|
|
NM_000313.4(PROS1):c.1527T>C (p.Asn509=)
|
rs2472107279
|
|
NM_000313.4(PROS1):c.1544G>C (p.Arg515Pro)
|
rs769700380
|
|
NM_000313.4(PROS1):c.1547C>T (p.Pro516Leu)
|
|
|
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg)
|
rs2107202922
|
|
NM_000313.4(PROS1):c.1565T>A (p.Val522Asp)
|
rs2107128754
|
|
NM_000313.4(PROS1):c.1599G>A (p.Val533=)
|
rs1232149677
|
|
NM_000313.4(PROS1):c.1608T>C (p.Ala536=)
|
rs2472107146
|
|
NM_000313.4(PROS1):c.1612T>C (p.Ser538Pro)
|
|
|
NM_000313.4(PROS1):c.1626C>T (p.Ser542=)
|
|
|
NM_000313.4(PROS1):c.1644+17C>G
|
|
|
NM_000313.4(PROS1):c.1644+2_1644+3insTT
|
rs1218619325
|
|
NM_000313.4(PROS1):c.1644G>A (p.Gln548=)
|
|
|
NM_000313.4(PROS1):c.1645-14G>A
|
rs374688768
|
|
NM_000313.4(PROS1):c.1645-6C>T
|
|
|
NM_000313.4(PROS1):c.1645-8C>T
|
rs774397005
|
|
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly)
|
rs121918476
|
|
NM_000313.4(PROS1):c.1684A>T (p.Ile562Leu)
|
rs1380889353
|
|
NM_000313.4(PROS1):c.1703G>A (p.Cys568Tyr)
|
rs2472104636
|
|
NM_000313.4(PROS1):c.1713A>G (p.Gln571=)
|
rs571916140
|
|
NM_000313.4(PROS1):c.1724T>C (p.Leu575Pro)
|
rs2472104578
|
|
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)
|
rs763898193
|
|
NM_000313.4(PROS1):c.1761G>A (p.Ser587=)
|
|
|
NM_000313.4(PROS1):c.1761G>C (p.Ser587=)
|
|
|
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)
|
rs2107125195
|
|
NM_000313.4(PROS1):c.178G>A (p.Glu60Lys)
|
|
|
NM_000313.4(PROS1):c.1802A>G (p.Gln601Arg)
|
rs2472104364
|
|
NM_000313.4(PROS1):c.1811T>G (p.Leu604Arg)
|
rs2107125076
|
|
NM_000313.4(PROS1):c.181G>T (p.Glu61Ter)
|
rs2107202868
|
|
NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser)
|
rs2107125044
|
|
NM_000313.4(PROS1):c.1821G>A (p.Leu607=)
|
|
|
NM_000313.4(PROS1):c.183A>C (p.Glu61Asp)
|
|
|
NM_000313.4(PROS1):c.183A>G (p.Glu61=)
|
rs536944947
|
|
NM_000313.4(PROS1):c.1840A>G (p.Lys614Glu)
|
rs761946767
|
|
NM_000313.4(PROS1):c.1843G>A (p.Val615Met)
|
|
|
NM_000313.4(PROS1):c.1849A>G (p.Thr617Ala)
|
rs2107124973
|
|
NM_000313.4(PROS1):c.1851A>G (p.Thr617=)
|
|
|
NM_000313.4(PROS1):c.1856T>C (p.Leu619Pro)
|
rs2472104168
|
|
NM_000313.4(PROS1):c.1857G>A (p.Leu619=)
|
rs1559927373
|
|
NM_000313.4(PROS1):c.1862G>T (p.Gly621Val)
|
rs2107124949
|
|
NM_000313.4(PROS1):c.1863C>T (p.Gly621=)
|
rs2107124945
|
|
NM_000313.4(PROS1):c.1866T>C (p.Leu622=)
|
rs746331652
|
|
NM_000313.4(PROS1):c.1870+1G>C
|
rs780859898
|
|
NM_000313.4(PROS1):c.1871-10C>A
|
|
|
NM_000313.4(PROS1):c.1871-14T>G
|
rs754929347
|
|
NM_000313.4(PROS1):c.1871-18A>G
|
rs2472100106
|
|
NM_000313.4(PROS1):c.1871-1G>A
|
rs2107120223
|
|
NM_000313.4(PROS1):c.1871-2A>G
|
rs2107120227
|
|
NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser)
|
rs1708153590
|
|
NM_000313.4(PROS1):c.1878A>G (p.Pro626=)
|
rs1708153549
|
|
NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser)
|
rs2107120174
|
|
NM_000313.4(PROS1):c.1907A>G (p.Tyr636Cys)
|
rs368173480
|
|
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr)
|
rs1576170616
|
|
NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe)
|
rs1576170616
|
|
NM_000313.4(PROS1):c.1919T>C (p.Met640Thr)
|
rs1708152510
|
|
NM_000313.4(PROS1):c.1936G>T (p.Gly646Cys)
|
rs776022988
|
|
NM_000313.4(PROS1):c.1938T>A (p.Gly646=)
|
rs1349900185
|
|
NM_000313.4(PROS1):c.1938T>C (p.Gly646=)
|
rs1349900185
|
|
NM_000313.4(PROS1):c.1941A>G (p.Val647=)
|
|
|
NM_000313.4(PROS1):c.1944G>A (p.Gln648=)
|
|
|
NM_000313.4(PROS1):c.194AAG[2] (p.Glu67del)
|
rs1709033502
|
|
NM_000313.4(PROS1):c.1956T>G (p.Asp652Glu)
|
rs1576170554
|
|
NM_000313.4(PROS1):c.1960G>A (p.Ala654Thr)
|
rs1193075151
|
|
NM_000313.4(PROS1):c.1972_1974dup (p.His658_Asn659insHis)
|
|
|
NM_000313.4(PROS1):c.1977del (p.Asn659fs)
|
rs2472099808
|
|
NM_000313.4(PROS1):c.1991dup (p.His664fs)
|
rs1553808038
|
|
NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter)
|
rs1559926604
|
|
NM_000313.4(PROS1):c.1A>C (p.Met1Leu)
|
rs2107279275
|
|
NM_000313.4(PROS1):c.1A>G (p.Met1Val)
|
rs2107279275
|
|
NM_000313.4(PROS1):c.2000_2001inv (p.Pro667Leu)
|
|
|
NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu)
|
rs886058926
|
|
NM_000313.4(PROS1):c.2031A>T (p.Ter677Tyr)
|
rs267606981
|
|
NM_000313.4(PROS1):c.228G>A (p.Pro76=)
|
rs6121
|
|
NM_000313.4(PROS1):c.228G>T (p.Pro76=)
|
rs6121
|
|
NM_000313.4(PROS1):c.232dup (p.Thr78fs)
|
|
|
NM_000313.4(PROS1):c.234+12T>C
|
|
|
NM_000313.4(PROS1):c.235-1G>A
|
rs1708985469
|
|
NM_000313.4(PROS1):c.235G>T (p.Asp79Tyr)
|
rs776082764
|
|
NM_000313.4(PROS1):c.240T>C (p.Tyr80=)
|
rs2107197427
|
|
NM_000313.4(PROS1):c.252del (p.Lys84fs)
|
rs1241365457
|
|
NM_000313.4(PROS1):c.253T>G (p.Tyr85Asp)
|
rs2471789475
|
|
NM_000313.4(PROS1):c.260-16T>C
|
|
|
NM_000313.4(PROS1):c.260-20A>G
|
|
|
NM_000313.4(PROS1):c.260-7T>G
|
rs373193429
|
|
NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)
|
rs2472148966
|
|
NM_000313.4(PROS1):c.264T>C (p.Cys88=)
|
rs2472148963
|
|
NM_000313.4(PROS1):c.265C>T (p.Leu89Phe)
|
rs1708748113
|
|
NM_000313.4(PROS1):c.266T>C (p.Leu89Pro)
|
rs1708748069
|
|
NM_000313.4(PROS1):c.269G>C (p.Arg90Pro)
|
rs200886866
|
|
NM_000313.4(PROS1):c.294T>C (p.Thr98=)
|
rs1708747296
|
|
NM_000313.4(PROS1):c.31C>T (p.Leu11=)
|
|
|
NM_000313.4(PROS1):c.344_346+7del
|
rs1310240075
|
|
NM_000313.4(PROS1):c.346+17T>C
|
|
|
NM_000313.4(PROS1):c.346+1G>T
|
rs2472148801
|
|
NM_000313.4(PROS1):c.346+2T>A
|
rs2472148797
|
|
NM_000313.4(PROS1):c.347-15G>A
|
|
|
NM_000313.4(PROS1):c.347-16T>C
|
|
|
NM_000313.4(PROS1):c.347-16T>G
|
|
|
NM_000313.4(PROS1):c.347-22_347-19del
|
rs745763642
|
|
NM_000313.4(PROS1):c.347-7C>T
|
rs1708672556
|
|
NM_000313.4(PROS1):c.354A>G (p.Pro118=)
|
|
|
NM_000313.4(PROS1):c.35T>A (p.Leu12Gln)
|
rs1347697005
|
|
NM_000313.4(PROS1):c.36G>A (p.Leu12=)
|
rs769931178
|
|
NM_000313.4(PROS1):c.3G>C (p.Met1Ile)
|
rs1403076049
|
|
NM_000313.4(PROS1):c.416C>T (p.Ala139Val)
|
|
|
NM_000313.4(PROS1):c.441A>G (p.Pro147=)
|
|
|
NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)
|
rs2472142959
|
|
NM_000313.4(PROS1):c.470-11dup
|
rs756708926
|
|
NM_000313.4(PROS1):c.470-18A>T
|
|
|
NM_000313.4(PROS1):c.470-19T>A
|
|
|
NM_000313.4(PROS1):c.470-2A>T
|
rs1708668246
|
|
NM_000313.4(PROS1):c.470-4T>C
|
rs1708668274
|
|
NM_000313.4(PROS1):c.47T>C (p.Leu16Pro)
|
rs1709925832
|
|
NM_000313.4(PROS1):c.49dup (p.Leu17fs)
|
rs1575904540
|
|
NM_000313.4(PROS1):c.512G>C (p.Cys171Ser)
|
rs1318913987
|
|
NM_000313.4(PROS1):c.538G>A (p.Gly180Arg)
|
rs1708667113
|
|
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr)
|
rs779391826
|
|
NM_000313.4(PROS1):c.566G>A (p.Gly189Asp)
|
rs1708666597
|
|
NM_000313.4(PROS1):c.573T>A (p.Val191=)
|
rs2472142539
|
|
NM_000313.4(PROS1):c.581C>A (p.Ser194Ter)
|
rs1708666412
|
|
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg)
|
rs2107170811
|
|
NM_000313.4(PROS1):c.59C>G (p.Pro20Arg)
|
rs1709918238
|
|
NM_000313.4(PROS1):c.601+10G>C
|
|
|
NM_000313.4(PROS1):c.601+19A>G
|
|
|
NM_000313.4(PROS1):c.601+1G>A
|
rs1708665916
|
|
NM_000313.4(PROS1):c.601+7G>T
|
|
|
NM_000313.4(PROS1):c.602-7T>C
|
|
|
NM_000313.4(PROS1):c.606G>C (p.Val202=)
|
rs2472135889
|
|
NM_000313.4(PROS1):c.607G>T (p.Asp203Tyr)
|
rs2472135886
|
|
NM_000313.4(PROS1):c.60C>G (p.Pro20=)
|
rs1709918178
|
|
NM_000313.4(PROS1):c.60C>T (p.Pro20=)
|
rs1709918178
|
|
NM_000313.4(PROS1):c.620T>C (p.Leu207Ser)
|
|
|
NM_000313.4(PROS1):c.624G>T (p.Lys208Asn)
|
rs1207595576
|
|
NM_000313.4(PROS1):c.664G>C (p.Gly222Arg)
|
rs1559933951
|
|
NM_000313.4(PROS1):c.676T>A (p.Cys226Ser)
|
rs370855515
|
|
NM_000313.4(PROS1):c.677G>A (p.Cys226Tyr)
|
rs1553810751
|
|
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
|
rs377173471
|
|
NM_000313.4(PROS1):c.687C>G (p.Pro229=)
|
rs149129715
|
|
NM_000313.4(PROS1):c.687C>T (p.Pro229=)
|
rs149129715
|
|
NM_000313.4(PROS1):c.695A>G (p.Tyr232Cys)
|
rs754454487
|
|
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys)
|
rs387906675
|
|
NM_000313.4(PROS1):c.708del (p.Lys237fs)
|
rs2472135703
|
|
NM_000313.4(PROS1):c.710A>C (p.Lys237Thr)
|
rs558211174
|
|
NM_000313.4(PROS1):c.718T>C (p.Ser240Pro)
|
rs2472135677
|
|
NM_000313.4(PROS1):c.727+11G>A
|
rs2472135609
|
|
NM_000313.4(PROS1):c.727+1G>A
|
rs1332591784
|
|
NM_000313.4(PROS1):c.727+8G>A
|
rs373359406
|
|
NM_000313.4(PROS1):c.728-1G>A
|
rs368074804
|
|
NM_000313.4(PROS1):c.728-1G>T
|
rs368074804
|
|
NM_000313.4(PROS1):c.728-5C>G
|
rs2472132437
|
|
NM_000313.4(PROS1):c.728-8del
|
|
|
NM_000313.4(PROS1):c.728-8dup
|
rs751417718
|
|
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser)
|
rs2107158284
|
|
NM_000313.4(PROS1):c.755G>A (p.Cys252Tyr)
|
|
|
NM_000313.4(PROS1):c.76+12A>G
|
rs760531453
|
|
NM_000313.4(PROS1):c.76+2_76+3del
|
rs2107279030
|
|
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter)
|
rs2472132377
|
|
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser)
|
rs1576182848
|
|
NM_000313.4(PROS1):c.769_770del (p.Val257fs)
|
|
|
NM_000313.4(PROS1):c.77-15G>T
|
rs2107203090
|
|
NM_000313.4(PROS1):c.77-2A>G
|
rs2471793974
|
|
NM_000313.4(PROS1):c.77-3C>A
|
|
|
NM_000313.4(PROS1):c.773A>G (p.Asn258Ser)
|
rs121918473
|
|
NM_000313.4(PROS1):c.792T>C (p.Thr264=)
|
|
|
NM_000313.4(PROS1):c.793dup (p.Cys265fs)
|
rs2107158205
|
|
NM_000313.4(PROS1):c.797A>G (p.Tyr266Cys)
|
rs777616039
|
|
NM_000313.4(PROS1):c.798T>C (p.Tyr266=)
|
rs1447172346
|
|
NM_000313.4(PROS1):c.799T>C (p.Cys267Arg)
|
rs2472132313
|
|
NM_000313.4(PROS1):c.805G>A (p.Gly269Arg)
|
rs886058927
|
|
NM_000313.4(PROS1):c.807G>C (p.Gly269=)
|
|
|
NM_000313.4(PROS1):c.815G>A (p.Gly272Glu)
|
|
|
NM_000313.4(PROS1):c.820A>T (p.Lys274Ter)
|
rs1708536031
|
|
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)
|
rs750744790
|
|
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter)
|
rs121918475
|
|
NM_000313.4(PROS1):c.83C>A (p.Ser28Ter)
|
|
|
NM_000313.4(PROS1):c.849+2T>G
|
rs2472132174
|
|
NM_000313.4(PROS1):c.849G>A (p.Glu283=)
|
rs767767470
|
|
NM_000313.4(PROS1):c.850-12C>G
|
rs745922225
|
|
NM_000313.4(PROS1):c.864C>A (p.Cys288Ter)
|
rs554787241
|
|
NM_000313.4(PROS1):c.865del (p.Leu289fs)
|
|
|
NM_000313.4(PROS1):c.871T>C (p.Leu291=)
|
rs2107155422
|
|
NM_000313.4(PROS1):c.905T>G (p.Leu302Trp)
|
rs2472129812
|
|
NM_000313.4(PROS1):c.909G>A (p.Ala303=)
|
rs537938359
|
|
NM_000313.4(PROS1):c.925G>T (p.Val309Phe)
|
|
|
NM_000313.4(PROS1):c.942A>T (p.Lys314Asn)
|
|
|
NM_000313.4(PROS1):c.947G>C (p.Arg316Pro)
|
|
|
NM_000313.4(PROS1):c.964_965delinsCC (p.Arg322Pro)
|
rs2472129668
|
|
NM_000313.4(PROS1):c.965+10C>A
|
rs755507167
|
|
NM_000313.4(PROS1):c.965+10C>G
|
rs755507167
|
|
NM_000313.4(PROS1):c.965+10C>T
|
|
|
NM_000313.4(PROS1):c.965+5G>A
|
rs1559932716
|
|
NM_000313.4(PROS1):c.965+9C>T
|
rs1708504228
|
|
NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs)
|
rs863224838
|
|
NM_000313.4(PROS1):c.971CAG[1] (p.Ala325del)
|
|
|
NM_000313.4(PROS1):c.980T>A (p.Phe327Tyr)
|
rs746799331
|
|
NM_000313.4(PROS1):c.986T>C (p.Phe329Ser)
|
rs1576180273
|
|
NM_000313.4(PROS1):c.989G>A (p.Arg330Gln)
|
|
|
NM_000313.4(PROS1):c.99A>G (p.Ser33=)
|
rs1709035668
|
|
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu)
|
rs376845574
|
|
NM_000361.3(THBD):c.1073T>G (p.Val358Gly)
|
|
|
NM_000361.3(THBD):c.1076A>G (p.Asp359Gly)
|
|
|
NM_000361.3(THBD):c.109G>T (p.Ala37Ser)
|
|
|
NM_000361.3(THBD):c.1105T>A (p.Cys369Ser)
|
|
|
NM_000361.3(THBD):c.119C>A (p.Pro40Gln)
|
|
|
NM_000361.3(THBD):c.1215G>C (p.Gln405His)
|
|
|
NM_000361.3(THBD):c.127del (p.Ala43fs)
|
|
|
NM_000361.3(THBD):c.1306G>T (p.Gly436Cys)
|
|
|
NM_000361.3(THBD):c.1351T>A (p.Cys451Ser)
|
rs776495714
|
|
NM_000361.3(THBD):c.1360del (p.Val454fs)
|
|
|
NM_000361.3(THBD):c.1375C>T (p.Pro459Ser)
|
rs2515203147
|
|
NM_000361.3(THBD):c.1378G>A (p.Gly460Ser)
|
|
|
NM_000361.3(THBD):c.142G>A (p.Ala48Thr)
|
rs2122673257
|
|
NM_000361.3(THBD):c.1440_1441del (p.Cys480_Asp481delinsTer)
|
|
|
NM_000361.3(THBD):c.1465G>C (p.Asp489His)
|
|
|
NM_000361.3(THBD):c.1470C>A (p.Ser490Arg)
|
|
|
NM_000361.3(THBD):c.1488_1490dup (p.Pro497_Ser498insPro)
|
|
|
NM_000361.3(THBD):c.14T>C (p.Leu5Pro)
|
|
|
NM_000361.3(THBD):c.1588G>A (p.Val530Met)
|
rs2515202454
|
|
NM_000361.3(THBD):c.1621A>G (p.Lys541Glu)
|
|
|
NM_000361.3(THBD):c.1660T>G (p.Cys554Gly)
|
|
|
NM_000361.3(THBD):c.1670C>T (p.Pro557Leu)
|
|
|
NM_000361.3(THBD):c.1678G>A (p.Glu560Lys)
|
rs201487514
|
|
NM_000361.3(THBD):c.1688dup (p.Gln564fs)
|
rs2515202194
|
|
NM_000361.3(THBD):c.1699C>G (p.Arg567Gly)
|
|
|
NM_000361.3(THBD):c.180G>A (p.Met60Ile)
|
rs2122673111
|
|
NM_000361.3(THBD):c.241G>A (p.Val81Ile)
|
rs772288987
|
|
NM_000361.3(THBD):c.257T>C (p.Leu86Pro)
|
rs879414468
|
|
NM_000361.3(THBD):c.280C>G (p.Pro94Ala)
|
|
|
NM_000361.3(THBD):c.295C>G (p.Pro99Ala)
|
|
|
NM_000361.3(THBD):c.302G>T (p.Arg101Leu)
|
rs546519295
|
|
NM_000361.3(THBD):c.340G>A (p.Asp114Asn)
|
|
|
NM_000361.3(THBD):c.376G>C (p.Asp126His)
|
|
|
NM_000361.3(THBD):c.379C>A (p.Leu127Ile)
|
|
|
NM_000361.3(THBD):c.394C>T (p.Leu132Phe)
|
|
|
NM_000361.3(THBD):c.403C>T (p.Pro135Ser)
|
|
|
NM_000361.3(THBD):c.459G>A (p.Trp153Ter)
|
|
|
NM_000361.3(THBD):c.538G>T (p.Val180Leu)
|
|
|
NM_000361.3(THBD):c.587C>G (p.Pro196Arg)
|
|
|
NM_000361.3(THBD):c.607G>T (p.Asp203Tyr)
|
rs1984658106
|
|
NM_000361.3(THBD):c.719C>T (p.Pro240Leu)
|
|
|
NM_000361.3(THBD):c.724G>T (p.Ala242Ser)
|
|
|
NM_000361.3(THBD):c.787C>G (p.Pro263Ala)
|
|
|
NM_000361.3(THBD):c.832C>T (p.Arg278Cys)
|
|
|
NM_000361.3(THBD):c.851C>G (p.Ala284Gly)
|
rs1239567703
|
|
NM_000361.3(THBD):c.877G>C (p.Glu293Gln)
|
rs765071586
|
|
NM_000361.3(THBD):c.896A>C (p.Asn299Thr)
|
|
|
NM_000361.3(THBD):c.898C>T (p.Pro300Ser)
|
rs199987510
|
|
NM_000361.3(THBD):c.914C>T (p.Ser305Phe)
|
|
|
NM_000361.3(THBD):c.917_919del (p.Tyr306del)
|
|
|
NM_000361.3(THBD):c.920C>A (p.Ser307Ter)
|
|
|
NM_000361.3(THBD):c.938G>T (p.Gly313Val)
|
|
|
NM_000361.3(THBD):c.944G>A (p.Arg315Gln)
|
|
|
NM_000361.3(THBD):c.944G>T (p.Arg315Leu)
|
|
|
NM_000361.3(THBD):c.955G>A (p.Asp319Asn)
|
|
|
NM_000361.3(THBD):c.965G>A (p.Arg322Gln)
|
rs146549103
|
|
NM_000361.3(THBD):c.97C>T (p.His33Tyr)
|
|
|
NM_000361.3(THBD):c.988A>C (p.Ile330Leu)
|
|
|
NM_000361.3(THBD):c.994G>T (p.Glu332Ter)
|
rs1984641671
|
|
NM_000412.5(HRG):c.1015A>G (p.Arg339Gly)
|
|
|
NM_000412.5(HRG):c.1194_1196del (p.His400del)
|
|
|
NM_000412.5(HRG):c.308G>A (p.Gly103Glu)
|
rs121918122
|
|
NM_000412.5(HRG):c.372del (p.Phe124fs)
|
rs1212149088
|
|
NM_000412.5(HRG):c.745C>T (p.His249Tyr)
|
rs2108584875
|
|
NM_000412.5(HRG):c.796G>A (p.Gly266Ser)
|
|
|
NM_000488.4(SERPINC1):c.-175_-174delTA
|
rs2526613902
|
|
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
|
rs2526570330
|
|
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
|
rs2526570301
|
|
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
|
rs2526570260
|
|
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
|
rs2526570241
|
|
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)
|
rs483352856
|
|
NM_000488.4(SERPINC1):c.1020G>A (p.Leu340=)
|
|
|
NM_000488.4(SERPINC1):c.1021_1024del (p.Asp341fs)
|
rs121909561
|
|
NM_000488.4(SERPINC1):c.1047G>C (p.Val349=)
|
|
|
NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)
|
rs960126155
|
|
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser)
|
rs2102782517
|
|
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)
|
rs2526569822
|
|
NM_000488.4(SERPINC1):c.105C>T (p.Ser35=)
|
rs1443804575
|
|
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs)
|
rs863224495
|
|
NM_000488.4(SERPINC1):c.1077C>T (p.Asp359=)
|
|
|
NM_000488.4(SERPINC1):c.1099C>G (p.Leu367Val)
|
rs1657673747
|
|
NM_000488.4(SERPINC1):c.1100T>G (p.Leu367Arg)
|
|
|
NM_000488.4(SERPINC1):c.1106A>G (p.Asp369Gly)
|
rs1254068236
|
|
NM_000488.4(SERPINC1):c.1107C>T (p.Asp369=)
|
|
|
NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)
|
rs2526569287
|
|
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
|
rs2526569200
|
|
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro)
|
rs121909565
|
|
NM_000488.4(SERPINC1):c.1152A>G (p.Pro384=)
|
rs2526569034
|
|
NM_000488.4(SERPINC1):c.1153+1G>A
|
|
|
NM_000488.4(SERPINC1):c.1153+5G>T
|
rs1572088348
|
|
NM_000488.4(SERPINC1):c.1153+7C>T
|
rs2526569017
|
|
NM_000488.4(SERPINC1):c.1154-14G>A
|
rs542881762
|
|
NM_000488.4(SERPINC1):c.1154-324_1218+475dup
|
rs2102778169
|
|
NM_000488.4(SERPINC1):c.1154-40_1218+127dup
|
rs2102778641
|
|
NM_000488.4(SERPINC1):c.1154-50_1218+50del
|
rs1572086894
|
|
NM_000488.4(SERPINC1):c.1154-898_1218+410del
|
|
|
NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp)
|
rs878854018
|
|
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)
|
rs1449772752
|
|
NM_000488.4(SERPINC1):c.1165G>A (p.Glu389Lys)
|
rs2526559731
|
|
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
|
rs2526559709
|
|
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn)
|
rs121909558
|
|
NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr)
|
rs121909558
|
|
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
|
rs2526559702
|
|
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter)
|
rs2102778910
|
|
NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)
|
rs2526559490
|
|
NM_000488.4(SERPINC1):c.1205del (p.Lys402fs)
|
rs2102778876
|
|
NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn)
|
rs920003404
|
|
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
|
rs2526559464
|
|
NM_000488.4(SERPINC1):c.1218+11C>T
|
rs2526559330
|
|
NM_000488.4(SERPINC1):c.1219-16C>T
|
rs1557900231
|
|
NM_000488.4(SERPINC1):c.1219-1G>A
|
rs2526543505
|
|
NM_000488.4(SERPINC1):c.1219-2A>G
|
rs2102773374
|
|
NM_000488.4(SERPINC1):c.1219-8A>G
|
rs2526543578
|
|
NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg)
|
rs2102773346
|
|
NM_000488.4(SERPINC1):c.1239A>C (p.Glu413Asp)
|
|
|
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)
|
rs121909557
|
|
NM_000488.4(SERPINC1):c.1242A>T (p.Ala414=)
|
|
|
NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)
|
rs121909548
|
|
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)
|
rs2526543302
|
|
NM_000488.4(SERPINC1):c.1267G>A (p.Ala423Thr)
|
rs1008874845
|
|
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp)
|
rs121909566
|
|
NM_000488.4(SERPINC1):c.1273_1275del (p.Arg425del)
|
rs2102773181
|
|
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His)
|
rs121909549
|
|
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro)
|
rs121909549
|
|
NM_000488.4(SERPINC1):c.1275T>C (p.Arg425=)
|
rs1227097057
|
|
NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp)
|
rs121909550
|
|
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu)
|
rs121909550
|
|
NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)
|
rs2526542910
|
|
NM_000488.4(SERPINC1):c.1284C>T (p.Asn428=)
|
rs2526542910
|
|
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys)
|
rs1572084546
|
|
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)
|
rs2526542785
|
|
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr)
|
rs121909546
|
|
NM_000488.4(SERPINC1):c.1306G>C (p.Ala436Pro)
|
|
|
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
|
rs1301351856
|
|
NM_000488.4(SERPINC1):c.1312A>G (p.Arg438Gly)
|
rs2526542705
|
|
NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)
|
rs2526542694
|
|
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala)
|
rs1487411568
|
|
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser)
|
rs1487411568
|
|
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)
|
rs121909555
|
|
NM_000488.4(SERPINC1):c.1322T>C (p.Leu441Pro)
|
|
|
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys)
|
rs2102773041
|
|
NM_000488.4(SERPINC1):c.1351_1352dup (p.Ile452fs)
|
|
|
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
|
rs758603270
|
|
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)
|
rs2526542341
|
|
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
|
rs2526542281
|
|
NM_000488.4(SERPINC1):c.1373_1381del (p.Val458_Pro461delinsAla)
|
rs2102772927
|
|
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp)
|
rs1572084448
|
|
NM_000488.4(SERPINC1):c.1382C>T (p.Pro461Leu)
|
rs121909564
|
|
NM_000488.4(SERPINC1):c.1384T>C (p.Cys462Arg)
|
|
|
NM_000488.4(SERPINC1):c.1386T>C (p.Cys462=)
|
|
|
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln)
|
rs1572084425
|
|
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
|
rs2526541988
|
|
NM_000488.4(SERPINC1):c.155del (p.Met52fs)
|
rs1572092103
|
|
NM_000488.4(SERPINC1):c.15G>T (p.Val5=)
|
rs778745435
|
|
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys)
|
rs28929469
|
|
NM_000488.4(SERPINC1):c.171C>T (p.Ser57=)
|
rs2526596016
|
|
NM_000488.4(SERPINC1):c.173dup (p.Glu59fs)
|
rs1572092076
|
|
NM_000488.4(SERPINC1):c.174G>A (p.Pro58=)
|
|
|
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
|
rs2526595697
|
|
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
|
rs2526612908
|
|
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser)
|
rs121909547
|
|
NM_000488.4(SERPINC1):c.237dup (p.Val80fs)
|
rs2102789885
|
|
NM_000488.4(SERPINC1):c.240C>T (p.Val80=)
|
rs2102789873
|
|
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
|
rs2526595268
|
|
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser)
|
rs2102789848
|
|
NM_000488.4(SERPINC1):c.265_266delinsGC (p.Arg89Ala)
|
rs2526594990
|
|
NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs)
|
rs2526594458
|
|
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
|
rs2526594931
|
|
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)
|
rs2526594923
|
|
NM_000488.4(SERPINC1):c.280_283del (p.Phe94fs)
|
rs2526594781
|
|
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His)
|
rs1657913203
|
|
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
|
rs2526612854
|
|
NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu)
|
rs2102789784
|
|
NM_000488.4(SERPINC1):c.30C>A (p.Thr10=)
|
rs2526612728
|
|
NM_000488.4(SERPINC1):c.318dup (p.Asn107Ter)
|
|
|
NM_000488.4(SERPINC1):c.322_327del (p.Ile108_Phe109del)
|
rs1572091831
|
|
NM_000488.4(SERPINC1):c.331T>C (p.Ser111Pro)
|
rs2526594315
|
|
NM_000488.4(SERPINC1):c.333A>G (p.Ser111=)
|
rs2102789680
|
|
NM_000488.4(SERPINC1):c.337C>T (p.Leu113=)
|
rs1572091821
|
|
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn)
|
rs1657909645
|
|
NM_000488.4(SERPINC1):c.345C>T (p.Ile115=)
|
|
|
NM_000488.4(SERPINC1):c.347C>T (p.Ser116Phe)
|
|
|
NM_000488.4(SERPINC1):c.351G>A (p.Thr117=)
|
|
|
NM_000488.4(SERPINC1):c.365C>A (p.Thr122Asn)
|
rs1253864431
|
|
NM_000488.4(SERPINC1):c.366C>G (p.Thr122=)
|
rs2102789624
|
|
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
|
rs2526594003
|
|
NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg)
|
rs121909573
|
|
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter)
|
rs2102789590
|
|
NM_000488.4(SERPINC1):c.391C>G (p.Leu131Val)
|
rs121909567
|
|
NM_000488.4(SERPINC1):c.399A>C (p.Gln133His)
|
rs878854019
|
|
NM_000488.4(SERPINC1):c.400del (p.Gln133_Leu134insTer)
|
rs1572091783
|
|
NM_000488.4(SERPINC1):c.408+5G>C
|
|
|
NM_000488.4(SERPINC1):c.408+948_763-386del
|
|
|
NM_000488.4(SERPINC1):c.408G>A (p.Glu136=)
|
rs763087077
|
|
NM_000488.4(SERPINC1):c.409-12del
|
rs201656611
|
|
NM_000488.4(SERPINC1):c.409-12dup
|
rs201656611
|
|
NM_000488.4(SERPINC1):c.409-1G>C
|
rs2526582621
|
|
NM_000488.4(SERPINC1):c.409-1G>T
|
rs2526582621
|
|
NM_000488.4(SERPINC1):c.409-8T>C
|
rs1657793318
|
|
NM_000488.4(SERPINC1):c.41+297_55del
|
|
|
NM_000488.4(SERPINC1):c.41+3A>T
|
|
|
NM_000488.4(SERPINC1):c.41+5G>A
|
rs2526612663
|
|
NM_000488.4(SERPINC1):c.410T>C (p.Val137Ala)
|
rs1657792806
|
|
NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del)
|
rs1572090368
|
|
NM_000488.4(SERPINC1):c.417G>A (p.Lys139=)
|
rs2102786232
|
|
NM_000488.4(SERPINC1):c.42-10C>A
|
rs755827622
|
|
NM_000488.4(SERPINC1):c.42-486_1154-846del
|
|
|
NM_000488.4(SERPINC1):c.423C>T (p.Asp141=)
|
rs1657792288
|
|
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)
|
rs121909569
|
|
NM_000488.4(SERPINC1):c.448dup (p.Gln150fs)
|
rs1572090305
|
|
NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)
|
rs2526582277
|
|
NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del)
|
rs786204063
|
|
NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro)
|
rs2102786101
|
|
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter)
|
rs121909562
|
|
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln)
|
rs121909563
|
|
NM_000488.4(SERPINC1):c.485T>C (p.Leu162Pro)
|
rs1657788029
|
|
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
|
rs199469504
|
|
NM_000488.4(SERPINC1):c.495A>G (p.Lys165=)
|
|
|
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr)
|
rs121909570
|
|
NM_000488.4(SERPINC1):c.501C>T (p.Asn167=)
|
|
|
NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)
|
rs2526597275
|
|
NM_000488.4(SERPINC1):c.51T>C (p.Tyr17=)
|
rs2102790373
|
|
NM_000488.4(SERPINC1):c.525C>T (p.Ala175=)
|
rs1553218235
|
|
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser)
|
rs483352847
|
|
NM_000488.4(SERPINC1):c.536T>G (p.Phe179Cys)
|
|
|
NM_000488.4(SERPINC1):c.543C>A (p.Asp181Glu)
|
|
|
NM_000488.4(SERPINC1):c.547T>C (p.Ser183Pro)
|
rs2102785961
|
|
NM_000488.4(SERPINC1):c.550del (p.Thr185fs)
|
rs1572090173
|
|
NM_000488.4(SERPINC1):c.562G>T (p.Glu188Ter)
|
|
|
NM_000488.4(SERPINC1):c.565_567del (p.Thr189del)
|
|
|
NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)
|
rs748774160
|
|
NM_000488.4(SERPINC1):c.569A>G (p.Tyr190Cys)
|
|
|
NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)
|
rs2526581512
|
|
NM_000488.4(SERPINC1):c.591A>G (p.Val197=)
|
rs1017725174
|
|
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His)
|
rs1572090114
|
|
NM_000488.4(SERPINC1):c.603G>T (p.Lys201Asn)
|
|
|
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter)
|
rs2102785788
|
|
NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)
|
rs2526581062
|
|
NM_000488.4(SERPINC1):c.624+18C>T
|
rs145617846
|
|
NM_000488.4(SERPINC1):c.624+1G>A
|
rs1572090079
|
|
NM_000488.4(SERPINC1):c.624+5_624+12del
|
rs2526580786
|
|
NM_000488.4(SERPINC1):c.624+9C>T
|
|
|
NM_000488.4(SERPINC1):c.625-9T>C
|
rs2102784825
|
|
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr)
|
rs483352854
|
|
NM_000488.4(SERPINC1):c.645A>G (p.Arg215=)
|
rs863224366
|
|
NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)
|
rs2526576947
|
|
NM_000488.4(SERPINC1):c.662G>C (p.Trp221Ser)
|
rs1553218111
|
|
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu)
|
rs1657744293
|
|
NM_000488.4(SERPINC1):c.667T>C (p.Ser223Pro)
|
rs121909572
|
|
NM_000488.4(SERPINC1):c.670A>C (p.Asn224His)
|
|
|
NM_000488.4(SERPINC1):c.678C>G (p.Thr226=)
|
rs2227627
|
|
NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)
|
rs1572089542
|
|
NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro)
|
rs387906575
|
|
NM_000488.4(SERPINC1):c.693C>A (p.Thr231=)
|
rs140452859
|
|
NM_000488.4(SERPINC1):c.693C>G (p.Thr231=)
|
rs140452859
|
|
NM_000488.4(SERPINC1):c.693C>T (p.Thr231=)
|
rs140452859
|
|
NM_000488.4(SERPINC1):c.695A>G (p.Asp232Gly)
|
|
|
NM_000488.4(SERPINC1):c.705C>G (p.Pro235=)
|
|
|
NM_000488.4(SERPINC1):c.719dup (p.Asn240fs)
|
rs2102784614
|
|
NM_000488.4(SERPINC1):c.74G>A (p.Gly25Asp)
|
rs1657927385
|
|
NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
|
rs1423630663
|
|
NM_000488.4(SERPINC1):c.762+19G>C
|
rs2526576199
|
|
NM_000488.4(SERPINC1):c.762+7A>G
|
rs2102784549
|
|
NM_000488.4(SERPINC1):c.763-1G>C
|
|
|
NM_000488.4(SERPINC1):c.763-379_1084del
|
rs2102782435
|
|
NM_000488.4(SERPINC1):c.766del (p.Leu256fs)
|
rs1572088865
|
|
NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer)
|
rs1572088853
|
|
NM_000488.4(SERPINC1):c.777A>C (p.Ser259=)
|
rs746961120
|
|
NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)
|
rs2526572347
|
|
NM_000488.4(SERPINC1):c.779dup (p.Phe261fs)
|
rs1572088837
|
|
NM_000488.4(SERPINC1):c.790G>C (p.Glu264Gln)
|
rs2526572295
|
|
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys)
|
rs1572088824
|
|
NM_000488.4(SERPINC1):c.801_805del (p.Lys268fs)
|
rs1572088823
|
|
NM_000488.4(SERPINC1):c.819G>C (p.Lys273Asn)
|
rs2102783199
|
|
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs)
|
rs1657694750
|
|
NM_000488.4(SERPINC1):c.830del (p.Glu277fs)
|
rs1572088775
|
|
NM_000488.4(SERPINC1):c.835T>C (p.Cys279Arg)
|
|
|
NM_000488.4(SERPINC1):c.84_409-536del
|
|
|
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys)
|
rs1572088737
|
|
NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr)
|
rs1572088737
|
|
NM_000488.4(SERPINC1):c.851T>G (p.Met284Arg)
|
rs1572088737
|
|
NM_000488.4(SERPINC1):c.857A>C (p.Gln286Pro)
|
rs2526571722
|
|
NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val)
|
rs1404578967
|
|
NM_000488.4(SERPINC1):c.876T>C (p.Tyr292=)
|
rs1435605964
|
|
NM_000488.4(SERPINC1):c.882C>G (p.Arg294=)
|
rs184508490
|
|
NM_000488.4(SERPINC1):c.882C>T (p.Arg294=)
|
rs184508490
|
|
NM_000488.4(SERPINC1):c.885G>T (p.Val295=)
|
rs778915564
|
|
NM_000488.4(SERPINC1):c.894C>T (p.Gly298=)
|
rs2102782923
|
|
NM_000488.4(SERPINC1):c.938T>C (p.Met313Thr)
|
|
|
NM_000488.4(SERPINC1):c.951G>T (p.Leu317Phe)
|
rs1468108124
|
|
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)
|
rs1460568494
|
|
NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs)
|
rs121909560
|
|
NM_000488.4(SERPINC1):c.98dup (p.His33fs)
|
rs2526596951
|
|
NM_000506.3(F2):c.940C>T (p.Arg314Cys)
|
rs121918477
|
|
NM_000506.4(F2):c.*100C>A
|
rs112016113
|
|
NM_000506.5(F2):c.1472+9C>T
|
rs886048336
|
|
NM_000506.5(F2):c.1499G>A (p.Arg500Gln)
|
rs202003146
|
|
NM_000506.5(F2):c.1542C>A (p.Asn514Lys)
|
rs199772906
|
|
NM_000506.5(F2):c.1567C>T (p.Leu523=)
|
rs886048337
|
|
NM_000506.5(F2):c.1598G>A (p.Arg533Gln)
|
rs1361766713
|
|
NM_000506.5(F2):c.1621C>A (p.Arg541=)
|
rs886048338
|
|
NM_000506.5(F2):c.1621C>T (p.Arg541Trp)
|
rs886048338
|
|
NM_000506.5(F2):c.1762G>A (p.Val588Ile)
|
|
|
NM_000506.5(F2):c.1787G>A (p.Arg596Gln)
|
rs387907201
|
|
NM_000506.5(F2):c.1787G>T (p.Arg596Leu)
|
rs387907201
|
|
NM_000506.5(F2):c.317-1G>A
|
|
|
NM_000506.5(F2):c.423-7G>C
|
rs2070852
|
|
NM_000506.5(F2):c.45G>A (p.Leu15=)
|
rs886048333
|
|
NM_000506.5(F2):c.49G>T (p.Ala17Ser)
|
|
|
NM_000506.5(F2):c.799G>T (p.Gly267Trp)
|
rs759581598
|
|
NM_001391906.1(EIF4G3):c.4801_4825dup (p.Lys1609fs)
|
|
|
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu)
|
rs794727869
|
|
NM_005957.5(MTHFR):c.112G>C (p.Asp38His)
|
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)
|
rs886043349
|
|
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
|
|
|
NM_005957.5(MTHFR):c.1477T>A (p.Ser493Thr)
|
|
|
NM_005957.5(MTHFR):c.1537T>A (p.Leu513Ile)
|
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
NM_005957.5(MTHFR):c.236+1G>A
|
rs1057519359
|
|
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)
|
|
|
NM_005957.5(MTHFR):c.875C>T (p.Ala292Val)
|
|
|
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)
|
|
|
PROC, ARG12TRP
|
|
|
PROS1, 1-BP INS, 146A
|
|
|
PROS1, ARG410TER
|
|
|
PROS1, IVS10DS, G-A, +5
|
|
|
Single allele
|
|
|