ClinVar Miner

List of variants studied for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14345
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T rs11702841 0.99999
NM_000312.4(PROC):c.535+44A>G rs1878844 0.99385
NM_000129.4(F13A1):c.1747+27C>G rs380058 0.98624
NM_032383.5(HPS3):c.2887+81G>A rs2681096 0.98243
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
NM_001098671.2(RASGRP2):c.1096-44T>C rs556356 0.96381
NM_000204.5(CFI):c.*112C>T rs551 0.94881
NM_000504.4(F10):c.865+33A>G rs2031184 0.93642
NM_000130.5(F5):c.5419+12A>G rs6009 0.92435
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_001001548.3(CD36):c.282-10A>G rs3211892 0.92282
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_001098671.2(RASGRP2):c.372-45T>G rs547280 0.91242
NM_001098671.2(RASGRP2):c.523-34A>G rs550930 0.91216
NM_005141.5(FGB):c.*619T>C rs2227439 0.91129
NM_001098671.2(RASGRP2):c.1174-43T>C rs553618 0.91127
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
NM_000129.4(F13A1):c.-19+12A>C rs2815822 0.88252
NM_022788.5(P2RY12):c.36T>G (p.Gly12=) rs6809699 0.88072
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_001710.6(CFB):c.450A>G (p.Arg150=) rs1048709 0.85323
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_022081.6(HPS4):c.706+39G>T rs739289 0.83516
NM_022081.6(HPS4):c.707-28T>C rs3213583 0.83408
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_001754.5(RUNX1):c.805+12836A>G rs2018329 0.81294
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_000504.4(F10):c.232-17T>C rs2251102 0.79208
NM_000313.4(PROS1):c.*520A>C rs9681204 0.79141
NM_001994.3(F13B):c.456A>G (p.Thr152=) rs5997 0.77286
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490 0.76736
NM_000064.4(C3):c.2246-8C>T rs406514 0.76696
NM_139279.6(MCFD2):c.*1267G>T rs7596245 0.76204
NM_000552.5(VWF):c.6799-14C>T rs177702 0.76003
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_000361.3(THBD):c.*1918G>A rs1962 0.75190
NM_139279.6(MCFD2):c.*1752T>C rs6544935 0.73719
NM_000504.4(F10):c.792C>T (p.Thr264=) rs5960 0.72493
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_001098671.2(RASGRP2):c.1591+45T>G rs533515 0.72151
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_032383.5(HPS3):c.1692-192T>G rs772903 0.70831
NM_000552.5(VWF):c.2546+25C>T rs216325 0.70354
NM_032383.5(HPS3):c.1164-139A>C rs2254913 0.69958
NM_000212.3(ITGB3):c.*1016T>A rs3809865 0.69848
NM_000312.4(PROC):c.423G>T (p.Ser141=) rs5936 0.69846
NM_000301.5(PLG):c.1878-17G>A rs2859879 0.68619
NM_000195.5(HPS1):c.768+64A>G rs2296431 0.67902
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_000064.4(C3):c.2863+7C>T rs2287845 0.65549
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453 0.65502
NM_021871.3(FGA):c.-58A>G rs2070011 0.65406
NM_001243133.2(NLRP3):c.*230G>C rs10754558 0.63911
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.59489
NM_001754.5(RUNX1):c.58+103A>G rs8133634 0.59069
NM_001710.6(CFB):c.2140-74A>G rs2072633 0.58857
NM_181507.2(HPS5):c.1511-30G>A rs2305565 0.58312
NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) rs1042464 0.56222
NM_000301.5(PLG):c.2286T>G (p.Gly762=) rs11060 0.55831
NM_000132.4(F8):c.*1672G>A rs1050705 0.55703
NM_000821.7(GGCX):c.*3996T>C rs12473819 0.55548
NM_000301.5(PLG):c.*45A>G rs6690 0.54884
NM_001754.5(RUNX1):c.968-134A>G rs11700756 0.53695
NM_000195.5(HPS1):c.937+192T>C rs1061135 0.53604
NM_000129.4(F13A1):c.*126T>C rs1050782 0.52358
NM_000821.7(GGCX):c.*2381C>T rs6547621 0.52266
NM_000821.7(GGCX):c.*4509G>A rs7605975 0.52251
NM_001001547.2(CD36):c.-375G>C rs1194182 0.52139
NC_000002.12:g.127418299G>A rs1799809 0.51466
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030 0.50596
NM_000130.5(F5):c.6193+831G>A rs3766103 0.49544
NM_000064.4(C3):c.4457-4G>A rs2277984 0.49417
NM_000195.5(HPS1):c.*706C>G rs3830020 0.48408
NM_000130.5(F5):c.*1115C>T rs2040444 0.48344
NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=) rs5878 0.48194
NM_000488.4(SERPINC1):c.981A>G (p.Val327=) rs5877 0.48114
NM_022081.6(HPS4):c.*1229C>T rs6147576 0.47868
NM_032383.5(HPS3):c.2796+50C>T rs2681092 0.46501
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_000212.3(ITGB3):c.2301+9C>T rs3809863 0.46212
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_000195.5(HPS1):c.*955A>G rs1737 0.45932
NM_000313.4(PROS1):c.76+4007C>T rs13062355 0.45865
NM_000301.5(PLG):c.771T>C (p.Cys257=) rs14224 0.44739
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_032383.5(HPS3):c.2107-57A>G rs61615092 0.44604
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000602.5(SERPINE1):c.*361T>C rs11178 0.43883
NM_000602.5(SERPINE1):c.*722T>G rs7242 0.43869
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43400
NM_001994.3(F13B):c.1806T>C (p.Asn602=) rs5998 0.42860
NM_000412.5(HRG):c.610C>T (p.Pro204Ser) rs9898 0.42606
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000821.7(GGCX):c.974G>A (p.Arg325Gln) rs699664 0.41038
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_172351.3(CD46):c.*897T>C rs7144 0.40706
NM_000186.4(CFH):c.59-36C>T rs551397 0.40527
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000128.4(F11):c.*479A>T rs1062547 0.40400
NM_000128.4(F11):c.*296G>C rs4253430 0.39990
NM_024006.6(VKORC1):c.*134G>A rs7294 0.39850
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_000195.5(HPS1):c.*452G>A rs701801 0.39309
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_000419.5(ITGA2B):c.3063C>T (p.Val1021=) rs5910 0.38791
NM_000419.5(ITGA2B):c.2188-7C>G rs850730 0.38774
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204 0.36996
NM_001754.5(RUNX1):c.*27C>A rs13051066 0.36204
NM_181507.2(HPS5):c.*464C>A rs1046611 0.35745
NM_022081.6(HPS4):c.*1231C>T rs56271395 0.35531
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_000301.5(PLG):c.942C>T (p.Phe314=) rs1130656 0.35208
NM_000301.5(PLG):c.950+14G>A rs2295368 0.35203
NM_000195.5(HPS1):c.*1167G>A rs1061437 0.35147
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.*1215C>T rs3830024 0.34580
NM_000301.5(PLG):c.330C>T (p.Asn110=) rs4757 0.34390
NM_181507.2(HPS5):c.*475C>T rs1046615 0.33956
NM_181507.2(HPS5):c.*299C>T rs12419588 0.33793
NM_181507.2(HPS5):c.*300T>C rs12416821 0.33782
NM_000313.4(PROS1):c.2001A>G (p.Pro667=) rs6123 0.33781
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_000195.5(HPS1):c.118-54A>T rs2296430 0.33514
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NC_000002.12:g.127418286C>T rs1799808 0.32970
NM_000361.3(THBD):c.*793A>G rs1042580 0.32212
NM_001994.3(F13B):c.*143G>A rs698859 0.31980
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30714
NM_000204.5(CFI):c.804G>A (p.Ser268=) rs2298749 0.30706
NM_000821.7(GGCX):c.1218C>T (p.Arg406=) rs2592551 0.30130
NM_000821.7(GGCX):c.*3398T>C rs35416445 0.30037
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000552.5(VWF):c.3222+31C>T rs73051263 0.29425
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_000212.3(ITGB3):c.1533A>G (p.Glu511=) rs4642 0.28601
NM_000212.3(ITGB3):c.1545G>A (p.Arg515=) rs4634 0.28592
NM_032383.5(HPS3):c.1163+62T>G rs11715291 0.28038
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005570.4(LMAN1):c.*2929T>C rs4806 0.27360
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.27234
NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) rs1042445 0.27106
NM_000129.4(F13A1):c.1217-23C>T rs5978 0.26684
NM_000509.5(FGG):c.*216C>T rs2066865 0.26358
NM_000552.5(VWF):c.7082-7C>T rs216868 0.26357
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_001754.5(RUNX1):c.352-184A>T rs2298354 0.25699
NM_005141.5(FGB):c.*1550C>T rs1044291 0.25394
NM_000130.5(F5):c.*1601C>T rs2187952 0.25334
NM_000602.5(SERPINE1):c.*1737G>A rs1050955 0.24319
NM_005141.5(FGB):c.*422A>C rs2227421 0.24213
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000133.4(F9):c.*687G>A rs440051 0.24153
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24147
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24140
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24133
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.24101
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_001754.5(RUNX1):c.508+259C>T rs2298351 0.23830
NM_005570.4(LMAN1):c.351A>G (p.Arg117=) rs1127220 0.23450
NM_001754.5(RUNX1):c.508+232A>G rs2298352 0.23437
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
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_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000129.4(F13A1):c.1954G>C (p.Glu652Gln) rs5988 0.21467
NM_000129.4(F13A1):c.1909-29G>C rs2274394 0.21456
NM_139279.6(MCFD2):c.*2454C>A rs1051317 0.20979
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_024747.6(HPS6):c.*178T>G rs3816 0.19913
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_030787.4(CFHR5):c.-20T>C rs9427662 0.19169
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) rs5982 0.18893
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_000129.4(F13A1):c.*160G>A rs1050783 0.18575
NM_000128.3(F11):c.-316C>G rs3733403 0.18163
NM_032383.5(HPS3):c.2107-52A>G rs57943258 0.17569
NM_001754.5(RUNX1):c.351+301A>G rs8126699 0.17527
NM_032383.5(HPS3):c.1164-25C>T rs2689232 0.17519
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_181507.2(HPS5):c.*804C>T rs1046628 0.17195
NM_000128.4(F11):c.*265A>G rs4253429 0.16938
NM_022081.6(HPS4):c.*1233C>T rs770072939 0.16771
NM_000552.5(VWF):c.998-27C>T rs55907031 0.16358
NM_000128.4(F11):c.*852G>A rs4253431 0.16273
NM_000128.4(F11):c.1191T>C (p.Gly397=) rs5970 0.16228
NM_000128.4(F11):c.801A>G (p.Thr267=) rs5974 0.16187
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201 0.15982
NM_019616.4(F7):c.64+9G>A rs6039 0.15932
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_005141.5(FGB):c.567C>T (p.Ser189=) rs6056 0.15358
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_000129.4(F13A1):c.996A>C (p.Pro332=) rs5981 0.15230
NM_000361.3(THBD):c.*1001A>C rs3176123 0.15095
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15009
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_000602.5(SERPINE1):c.*892G>A rs1050813 0.14284
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_005141.5(FGB):c.*1369G>A rs2227426 0.14032
NM_005141.5(FGB):c.*1617A>T rs2059503 0.14026
NM_005141.5(FGB):c.*1517T>C rs2059502 0.14019
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_005141.5(FGB):c.*447T>C rs2227423 0.13969
NM_005141.5(FGB):c.1125C>T (p.Tyr375=) rs4681 0.13958
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205 0.13947
NM_000129.4(F13A1):c.*995G>T rs3024466 0.13914
NM_181507.1(HPS5):c.-251C>A rs4150530 0.13814
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_000195.5(HPS1):c.937+88C>T rs34533614 0.13757
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286 0.13563
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506 0.13313
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) rs5918 0.13037
NM_145167.3(PIGM):c.1095T>A (p.Phe365Leu) rs12409352 0.12873
NM_001001548.3(CD36):c.121-6T>C rs3173798 0.12793
NM_000821.7(GGCX):c.*3805A>G rs12470957 0.12606
NM_000195.5(HPS1):c.399-35G>A rs11591594 0.12488
NM_000821.7(GGCX):c.*3752G>A rs72643495 0.12184
NM_019616.4(F7):c.459C>T (p.His153=) rs6042 0.12147
NM_000129.4(F13A1):c.1217-24C>T rs5977 0.12083
NM_139279.6(MCFD2):c.*693G>C rs28516550 0.11926
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_139279.6(MCFD2):c.*2075C>T rs6743966 0.11844
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_139279.6(MCFD2):c.*2658C>T rs17035887 0.11807
NM_000129.4(F13A1):c.-19+12= rs2815822 0.11748
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_005570.4(LMAN1):c.*2217G>A rs7236294 0.11367
NM_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) rs6046 0.11103
NM_000821.7(GGCX):c.*1049T>A rs13406935 0.11064
NM_000821.7(GGCX):c.*4429G>A rs62165899 0.11060
NM_000821.7(GGCX):c.1242C>T (p.Thr414=) rs10179904 0.11053
NM_019616.4(F7):c.*770G>A rs3093253 0.10963
NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) rs685523 0.10882
NM_000064.4(C3):c.3391-4T>C rs11569510 0.10612
NM_000064.4(C3):c.3391-6T>C rs11569509 0.10608
NM_000064.4(C3):c.3391-8T>C rs11569508 0.10606
NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu) rs2298711 0.10604
NM_000552.5(VWF):c.657+11A>C rs7980045 0.10566
NM_000821.7(GGCX):c.*3047G>A rs34669893 0.10244
NM_000212.3(ITGB3):c.882T>C (p.Pro294=) rs5919 0.10166
NM_005570.4(LMAN1):c.*2387A>G rs34679996 0.10136
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.1335+48G>A rs41317034 0.09953
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_005570.4(LMAN1):c.*1799A>C rs1043334 0.09774
NM_000552.5(VWF):c.3379+7A>C rs113446850 0.09700
NM_005570.4(LMAN1):c.116T>C (p.Val39Ala) rs33926449 0.09631
NM_000488.4(SERPINC1):c.1154-53G>A rs2759328 0.09559
NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp) rs34024143 0.09518
NM_000212.3(ITGB3):c.*713A>G rs2317676 0.09380
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_139027.6(ADAMTS13):c.987+11C>T rs28729234 0.09160
NM_000488.4(SERPINC1):c.1218+27G>C rs677 0.09086
NM_005570.4(LMAN1):c.*2063C>G rs7239187 0.08931
NM_004621.6(TRPC6):c.-254C>G rs3824934 0.08690
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000821.7(GGCX):c.*3416G>A rs6704863 0.08578
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.08554
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.08527
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951 0.08524
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000552.5(VWF):c.7288-19C>T rs3819540 0.08253
NM_000552.5(VWF):c.2555= (p.Gln852=) rs216321 0.08026
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_139025.4(ADAMTS13):c.-357T>C rs34265876 0.07895
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_000821.7(GGCX):c.*3071T>C rs72843835 0.07788
NM_000821.7(GGCX):c.*2974G>A rs72843836 0.07770
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000128.4(F11):c.*322G>A rs4253865 0.07317
NM_001754.5(RUNX1):c.58+264C>T rs9981811 0.07034
NM_000064.4(C3):c.4631-8C>T rs11569565 0.06993
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000128.4(F11):c.1812G>T (p.Arg604=) rs5971 0.06917
NM_000128.4(F11):c.1717-48A>G rs5966 0.06916
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NC_000019.10:g.45181810T>C rs78979751 0.06757
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06671
NM_139279.6(MCFD2):c.*498A>G rs144674773 0.06645
NM_139279.6(MCFD2):c.*1908G>C rs6743994 0.06473
NM_000128.4(F11):c.429C>T (p.Asp143=) rs5973 0.06445
NM_139279.6(MCFD2):c.*1924T>C rs6715391 0.06423
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_139279.6(MCFD2):c.*1525C>G rs7596198 0.06380
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_139279.6(MCFD2):c.*2675C>G rs17035884 0.06201
NM_000821.7(GGCX):c.*225G>A rs72843839 0.06084
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_024006.6(VKORC1):c.358C>T (p.Leu120=) rs7200749 0.05999
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) rs28647808 0.05902
NM_139279.6(MCFD2):c.*3318T>C rs8861 0.05885
NM_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_139027.6(ADAMTS13):c.686+4T>G rs36219245 0.05749
NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) rs34054981 0.05724
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu) rs566672558 0.05671
NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=) rs28571612 0.05636
NM_000552.5(VWF):c.7771-13C>T rs11063962 0.05514
NM_000130.5(F5):c.*1820A>C rs72708013 0.05470
NM_000130.5(F5):c.*1246C>T rs9332676 0.05464
NM_000130.5(F5):c.*873C>T rs9332673 0.05461
NM_005570.4(LMAN1):c.*2405C>A rs34753206 0.05461
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05391
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_139279.6(MCFD2):c.*133A>T rs75416242 0.05300
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly) rs6027 0.05290
NM_000129.4(F13A1):c.1951G>A (p.Val651Ile) rs5987 0.05207
NM_000212.3(ITGB3):c.*2327G>A rs58365772 0.05104
NM_001754.5(RUNX1):c.58+265G>A rs73900787 0.05102
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208 0.04973
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207 0.04934
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_000129.4(F13A1):c.*443G>A rs3024486 0.04832
NM_000821.7(GGCX):c.339C>T (p.Asp113=) rs6751560 0.04827
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=) rs61750222 0.04709
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_001375834.1(WIPF1):c.957T>G (p.Pro319=) rs112447307 0.04681
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000552.5(VWF):c.3539-33G>A rs148995386 0.04652
NM_001754.5(RUNX1):c.*2474T>C rs56202419 0.04630
NM_000129.4(F13A1):c.*89A>G rs3024462 0.04627
NM_000129.4(F13A1):c.*112G>T rs3024463 0.04625
NM_000129.4(F13A1):c.*743G>A rs12862 0.04625
NM_000129.4(F13A1):c.*221G>A rs3024464 0.04624
NM_000552.5(VWF):c.6345T>A (p.Thr2115=) rs11537642 0.04599
NM_000128.4(F11):c.1839G>A (p.Glu613=) rs5976 0.04596
NM_139279.6(MCFD2):c.*73A>G rs71423925 0.04579
NM_000195.5(HPS1):c.*694C>T rs7075480 0.04558
NM_001754.5(RUNX1):c.*559T>C rs73362827 0.04517
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.*473G>A rs3830019 0.04437
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_000553.6(WRN):c.355+20A>T rs4987239 0.04393
NM_000821.7(GGCX):c.*107T>G rs78909830 0.04352
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_172351.3(CD46):c.*1875T>G rs1237 0.04298
NM_145167.3(PIGM):c.1150A>G (p.Asn384Asp) rs61747491 0.04277
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04240
NM_019616.4(F7):c.*1146A>G rs3093255 0.04222
NM_000212.3(ITGB3):c.*671C>T rs16941864 0.04199
NM_005570.4(LMAN1):c.41G>A (p.Arg14Gln) rs1043302 0.04125
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_000361.3(THBD):c.*351A>G rs11696919 0.04028
NM_000602.5(SERPINE1):c.*690T>C rs7241 0.03895
NM_019616.4(F7):c.*673A>G rs3093251 0.03895
NM_000133.4(F9):c.391+7A>G rs6049 0.03872
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000821.7(GGCX):c.*2949C>T rs76606353 0.03766
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_001754.5(RUNX1):c.*1138C>A rs55744508 0.03659
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_000552.5(VWF):c.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_001754.5(RUNX1):c.*2285A>C rs75749444 0.03632
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_001754.5(RUNX1):c.805+186C>T rs55789220 0.03584
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.03498
NM_000602.5(SERPINE1):c.*1186C>T rs2227714 0.03491
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
NM_000204.3(CFI):c.*214A>G rs28361433 0.03412
NM_000504.4(F10):c.-40C>T rs3212994 0.03388
NM_001754.5(RUNX1):c.*70T>C rs150481777 0.03364
NM_139279.6(MCFD2):c.*3100C>G rs13424086 0.03363
NM_000602.5(SERPINE1):c.49G>A (p.Val17Ile) rs6090 0.03360
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001710.6(CFB):c.*23C>T rs4151672 0.03305
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=) rs34934621 0.03291
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_019616.4(F7):c.*1275A>G rs3093257 0.03241
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_172351.3(CD46):c.*1435T>C rs14374 0.03161
NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=) rs28641026 0.03155
NM_139279.6(MCFD2):c.*1788C>T rs115043642 0.03146
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) rs28503257 0.03107
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_001754.5(RUNX1):c.*3380A>G rs79122814 0.02995
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_000821.7(GGCX):c.*3875C>T rs58540395 0.02955
NM_000821.7(GGCX):c.*902T>C rs6723678 0.02953
NM_000821.7(GGCX):c.*1965G>T rs113958713 0.02948
NM_001754.5(RUNX1):c.*4032T>C rs78335539 0.02935
NM_181507.2(HPS5):c.*1068T>A rs112456564 0.02934
NM_000361.3(THBD):c.*87T>G rs3176133 0.02931
NM_019616.4(F7):c.*639G>A rs3093250 0.02923
NM_181507.2(HPS5):c.*443T>A rs74602396 0.02922
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_000128.4(F11):c.1707C>T (p.Asp569=) rs5975 0.02893
NM_001754.5(RUNX1):c.968-269G>A rs73362834 0.02871
NM_139279.6(MCFD2):c.*1042C>T rs111603188 0.02828
NM_139279.6(MCFD2):c.*1346G>T rs111535939 0.02827
NM_000361.3(THBD):c.-58G>C rs13306849 0.02804
NM_000821.7(GGCX):c.*3431C>T rs72940569 0.02772
NM_000504.4(F10):c.574G>A (p.Gly192Arg) rs3211783 0.02730
NM_001754.5(RUNX1):c.*2768A>C rs74950917 0.02722
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter) rs3211938 0.02669
NM_001754.5(RUNX1):c.*2770C>G rs75192893 0.02646
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_001754.5(RUNX1):c.*3574A>G rs113375138 0.02560
NM_001001548.3(CD36):c.1125+13C>A rs3211942 0.02510
NM_000488.4(SERPINC1):c.42-18C>T rs2227599 0.02503
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02430
NM_000212.3(ITGB3):c.-7G>C rs117052258 0.02423
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_001271769.2(AP3B1):c.*588A>G rs114954951 0.02413
NM_000186.3(CFH):c.-79A>G rs35906110 0.02400
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536 0.02383
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_000419.5(ITGA2B):c.2094+13C>T rs12938868 0.02354
NM_000505.4(F12):c.711C>T (p.Pro237=) rs17876047 0.02352
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_000602.5(SERPINE1):c.*1449C>T rs2227716 0.02335
NM_001754.5(RUNX1):c.*919A>G rs8131520 0.02318
NM_005141.5(FGB):c.*443G>A rs2227422 0.02316
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_172351.3(CD46):c.1083-10C>T rs41317997 0.02234
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_032383.5(HPS3):c.-70T>C rs13089410 0.02214
NM_001754.5(RUNX1):c.*88G>T rs539980908 0.02200
NM_019616.4(F7):c.*888G>A rs79733913 0.02191
NM_000552.5(VWF):c.1945+15T>A rs71582861 0.02177
NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His) rs36090624 0.02177
NM_001171506.2(MCFD2):c.-189C>G rs886056125 0.02167
NM_005141.5(FGB):c.843G>T (p.Val281=) rs6058 0.02166
NM_000129.4(F13A1):c.*1045C>G rs3024487 0.02144
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_001754.5(RUNX1):c.613+158C>T rs56138997 0.02118
NM_000552.5(VWF):c.1794C>T (p.Ala598=) rs35302737 0.02100
NM_139279.6(MCFD2):c.*2163A>G rs140937815 0.02097
NM_001710.6(CFB):c.672C>T (p.Tyr224=) rs4151670 0.02070
NM_000130.5(F5):c.*1118G>A rs9332675 0.02056
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_172351.3(CD46):c.*503A>G rs2724390 0.02021
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_000505.4(F12):c.756C>T (p.Ala252=) rs41309752 0.01977
NM_000553.6(WRN):c.1155G>A (p.Glu385=) rs2230010 0.01974
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_001001548.3(CD36):c.573G>A (p.Pro191=) rs5956 0.01947
NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe) rs3024477 0.01940
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01876
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_000552.5(VWF):c.1433-10T>C rs66722092 0.01853
NM_021870.3(FGG):c.418T>C (p.Tyr140His) rs2066870 0.01852
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_000552.5(VWF):c.5667C>T (p.Pro1889=) rs56981471 0.01850
NM_000821.7(GGCX):c.*4579G>A rs138686161 0.01846
NM_000504.4(F10):c.399C>T (p.Asn133=) rs5962 0.01840
NM_139279.6(MCFD2):c.*1010G>T rs138758588 0.01819
NM_181507.2(HPS5):c.*702A>T rs79086536 0.01805
NM_022081.6(HPS4):c.*1227T>C rs7293228 0.01801
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000212.3(ITGB3):c.342T>C (p.Ile114=) rs5920 0.01758
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000212.3(ITGB3):c.*1542C>T rs73322321 0.01652
NM_000212.3(ITGB3):c.*919C>T rs73322319 0.01650
NM_145167.3(PIGM):c.180C>T (p.Arg60=) rs41265753 0.01647
NM_003664.5(AP3B1):c.1364-18A>G rs112329411 0.01617
NM_001994.3(F13B):c.1707T>G (p.Asp569Glu) rs6000 0.01612
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=) rs36219562 0.01608
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_000506.5(F2):c.1602G>A (p.Pro534=) rs5900 0.01567
NM_001754.5(RUNX1):c.352-292T>C rs111271072 0.01560
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_001754.5(RUNX1):c.*1012C>T rs55767668 0.01526
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_000821.7(GGCX):c.1494C>T (p.Arg498=) rs41290033 0.01507
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_000204.5(CFI):c.884-7T>C rs140555685 0.01504
NM_001994.3(F13B):c.*89G>C rs17549873 0.01500
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_022081.5(HPS4):c.-660C>T rs34019374 0.01443
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_139027.6(ADAMTS13):c.2508T>C (p.Asp836=) rs36221472 0.01405
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_000204.5(CFI):c.482+14T>A rs76014294 0.01365
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_005141.5(FGB):c.*1752G>T rs116381809 0.01354
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_019616.4(F7):c.*1649G>A rs3093259 0.01345
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01344
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) rs116573785 0.01344
NM_005141.5(FGB):c.318T>C (p.Cys106=) rs6055 0.01339
NM_000821.7(GGCX):c.*781A>C rs142680507 0.01337
NM_139279.6(MCFD2):c.*2761T>C rs193204253 0.01332
NM_005141.5(FGB):c.291C>T (p.His97=) rs6060 0.01330
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_003664.5(AP3B1):c.1095+17C>T rs58284777 0.01316
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_001754.5(RUNX1):c.*484T>C rs147934675 0.01292
NM_000504.4(F10):c.90G>C (p.Gln30His) rs5961 0.01285
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_000312.4(PROC):c.1107G>A (p.Pro369=) rs61731660 0.01266
NM_000552.5(VWF):c.390C>T (p.Ser130=) rs2229444 0.01260
NM_000130.5(F5):c.*476C>T rs72708017 0.01259
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000128.4(F11):c.*885G>A rs4253432 0.01236
NM_172351.3(CD46):c.*918G>A rs6664092 0.01233
NM_022081.6(HPS4):c.*1235C>T rs1235169942 0.01229
NM_000312.4(PROC):c.400+13G>A rs116738363 0.01228
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01203
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_000602.5(SERPINE1):c.*1358T>C rs2227700 0.01191
NM_000361.3(THBD):c.*2143C>T rs3176126 0.01185
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_000892.5(KLKB1):c.1072A>G (p.Thr358Ala) rs4253379 0.01167
NM_000892.5(KLKB1):c.519A>G (p.Gly173=) rs4253350 0.01158
NM_001001548.3(CD36):c.*1419+226A>G rs8956 0.01157
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_000133.4(F9):c.278-27A>G rs3134809 0.01152
NM_032383.5(HPS3):c.*135T>C rs375383865 0.01150
NM_000212.3(ITGB3):c.*1479T>C rs115310198 0.01139
NM_000130.5(F5):c.2105C>T (p.Thr702Ile) rs78958618 0.01131
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys) rs36221451 0.01123
NM_001754.5(RUNX1):c.508+275T>G rs75181041 0.01122
NM_139027.6(ADAMTS13):c.1797C>T (p.Ile599=) rs36221216 0.01122
NM_001754.5(RUNX1):c.927C>T (p.Gly309=) rs59802347 0.01119
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_139279.6(MCFD2):c.*1724C>T rs115137793 0.01078
NM_000132.4(F8):c.1444-22T>C rs5986899 0.01075
NM_019616.4(F7):c.64+983G>A rs3093238 0.01072
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_139279.6(MCFD2):c.*1043G>A rs114662283 0.01064
NM_139279.6(MCFD2):c.*2336A>C rs144118640 0.01059
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_005570.4(LMAN1):c.*2184A>G rs41370447 0.01057
NM_000312.4(PROC):c.630G>A (p.Pro210=) rs2069927 0.01043
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_000313.4(PROS1):c.*197C>T rs182088150 0.01026
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_000133.4(F9):c.1095A>G (p.Ser365=) rs112057482 0.01021
NM_019616.4(F7):c.219G>A (p.Glu73=) rs36208758 0.01020
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787 0.01011
NM_139279.6(MCFD2):c.*1124G>A rs190398265 0.01009
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_019616.4(F7):c.64+8C>T rs10482844 0.00989
NM_000313.4(PROS1):c.1032C>T (p.Ile344=) rs78449232 0.00981
NM_145167.3(PIGM):c.582G>T (p.Leu194=) rs35060029 0.00980
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_022081.6(HPS4):c.*1528T>G rs7292764 0.00979
NM_000133.4(F9):c.*799A>T rs772966694 0.00978
NM_000361.3(THBD):c.*1993T>C rs3176136 0.00972
NM_024747.6(HPS6):c.1764G>A (p.Gln588=) rs145597717 0.00963
NM_001754.5(RUNX1):c.*2642A>G rs112327235 0.00961
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_000129.4(F13A1):c.1689G>A (p.Gly563=) rs58315745 0.00958
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000552.5(VWF):c.7698G>A (p.Lys2566=) rs16932285 0.00947
NM_001375834.1(WIPF1):c.42G>A (p.Thr14=) rs111761533 0.00937
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_000313.4(PROS1):c.234+72T>C rs115491294 0.00923
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_181507.2(HPS5):c.-142C>T rs4150528 0.00903
NM_000821.7(GGCX):c.*3053A>G rs150020679 0.00896
NC_000020.11:g.23049706C>T rs13306848 0.00891
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_000212.3(ITGB3):c.2208C>T (p.Ala736=) rs73322311 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_000212.3(ITGB3):c.*2455A>C rs73322322 0.00876
NM_000312.4(PROC):c.-33C>T rs116169054 0.00873
NM_001754.5(RUNX1):c.*121G>C rs549844608 0.00871
NM_001754.5(RUNX1):c.*44C>G rs535532916 0.00869
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_000204.5(CFI):c.*7G>T rs80173133 0.00861
NM_005570.4(LMAN1):c.957G>A (p.Ala319=) rs61733371 0.00861
NM_000129.4(F13A1):c.*587G>A rs75981686 0.00859
NM_001994.3(F13B):c.1049A>G (p.His350Arg) rs5999 0.00858
NM_000204.5(CFI):c.*144T>C rs77449037 0.00857
NM_022081.6(HPS4):c.*477C>T rs76496430 0.00851
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=) rs145744152 0.00846
NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=) rs36222899 0.00845
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_022081.6(HPS4):c.*1207T>C rs534698074 0.00842
NM_000361.3(THBD):c.*277G>A rs3176134 0.00836
NM_000133.4(F9):c.1110G>A (p.Gln370=) rs34698779 0.00833
NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu) rs115943536 0.00832
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000552.5(VWF):c.5277C>T (p.Asp1759=) rs41276736 0.00826
NM_022081.6(HPS4):c.*1225T>C rs886057311 0.00821
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_000552.5(VWF):c.7887+12T>C rs55687637 0.00814
NM_001754.5(RUNX1):c.*3060T>C rs76478380 0.00814
NM_001754.5(RUNX1):c.*1466G>A rs144796880 0.00809
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_000361.3(THBD):c.*497G>A rs3176122 0.00808
NM_001994.3(F13B):c.765C>T (p.Cys255=) rs5994 0.00807
NM_139279.6(MCFD2):c.*1407C>T rs138459734 0.00806
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_001994.3(F13B):c.570G>A (p.Lys190=) rs17514253 0.00792
NM_000212.3(ITGB3):c.*1154G>A rs56288308 0.00791
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser) rs78302129 0.00774
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp) rs4252129 0.00772
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_005141.5(FGB):c.*1070G>C rs2227425 0.00766
NM_001994.3(F13B):c.1586T>C (p.Leu529Pro) rs17549671 0.00764
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_139027.6(ADAMTS13):c.1830C>T (p.Ser610=) rs36221217 0.00759
NM_000821.7(GGCX):c.1806C>G (p.Val602=) rs143538795 0.00758
NM_005570.4(LMAN1):c.*164A>G rs41332251 0.00758
NM_001754.5(RUNX1):c.613+108G>A rs111433804 0.00757
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000602.5(SERPINE1):c.*180C>T rs41334349 0.00755
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_000130.5(F5):c.*376A>T rs76510731 0.00746
NM_001754.5(RUNX1):c.*3619A>G rs139372063 0.00746
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_019616.4(F7):c.*533A>C rs116688254 0.00744
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp) rs75645183 0.00739
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=) rs147563206 0.00731
NM_181507.1(HPS5):c.-250G>T rs4150529 0.00728
NM_005570.4(LMAN1):c.*1822G>T rs151128517 0.00725
NM_022081.6(HPS4):c.*1223T>C rs1367343497 0.00724
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_139025.4(ADAMTS13):c.-168C>T rs36218240 0.00689
NM_022081.6(HPS4):c.*1762G>A rs139974836 0.00680
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_000130.5(F5):c.*1488T>C rs75764442 0.00676
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) rs4151660 0.00673
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_000361.3(THBD):c.*321G>T rs56354707 0.00668
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678 0.00655
NM_000128.4(F11):c.*551A>T rs186377697 0.00654
NM_000506.5(F2):c.813C>T (p.Gly271=) rs5899 0.00654
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_000504.4(F10):c.111G>A (p.Arg37=) rs115112448 0.00649
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534 0.00648
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_001994.3(F13B):c.1025T>C (p.Ile342Thr) rs17514281 0.00637
NM_000361.3(THBD):c.*759A>T rs73611750 0.00628
NM_000821.7(GGCX):c.*3770T>C rs141040739 0.00627
NM_000132.4(F8):c.266-19G>A rs28370201 0.00623
NM_001375834.1(WIPF1):c.339C>G (p.Ser113=) rs76308107 0.00619
NM_000361.3(THBD):c.1092G>A (p.Glu364=) rs73901577 0.00611
NM_139027.6(ADAMTS13):c.*168C>T rs142792179 0.00610
NM_005570.4(LMAN1):c.936C>T (p.Pro312=) rs145829103 0.00609
NM_000204.5(CFI):c.315A>T (p.Thr105=) rs61745205 0.00608
NM_139279.6(MCFD2):c.*1995G>A rs183896754 0.00603
NM_000204.5(CFI):c.1217G>A (p.Arg406His) rs74817407 0.00599
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_139027.6(ADAMTS13):c.824+13C>T rs149586801 0.00593
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_001754.5(RUNX1):c.*2193del rs201977305 0.00589
NM_000212.3(ITGB3):c.*517C>T rs192380904 0.00587
NM_000128.4(F11):c.1016G>T (p.Cys339Phe) rs5967 0.00586
NM_000132.4(F8):c.670+31C>G rs34277626 0.00585
NM_000212.3(ITGB3):c.*1985T>C rs148880380 0.00583
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_005141.5(FGB):c.1113A>G (p.Ser371=) rs6057 0.00574
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000419.5(ITGA2B):c.1848G>A (p.Val616=) rs79289329 0.00571
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476 0.00571
NM_139279.6(MCFD2):c.310-11G>C rs144139062 0.00567
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000552.5(VWF):c.5664+15G>A rs7961539 0.00560
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_019616.4(F7):c.740-10T>C rs3093266 0.00559
NM_139027.6(ADAMTS13):c.*77C>T rs180910039 0.00559
NM_000602.5(SERPINE1):c.899+12C>T rs116128114 0.00550
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=) rs114232872 0.00531
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=) rs149092210 0.00525
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) rs13438802 0.00516
NM_181507.2(HPS5):c.-91C>G rs4150527 0.00513
NM_000553.6(WRN):c.1788T>C (p.Ser596=) rs13438803 0.00512
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_000133.4(F9):c.*606G>A rs191483077 0.00507
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718 0.00507
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_005570.4(LMAN1):c.*2359A>G rs41522247 0.00504
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000361.3(THBD):c.40G>A (p.Gly14Ser) rs191884040 0.00483
NM_001754.5(RUNX1):c.58+23A>G rs117776183 0.00482
NM_000130.5(F5):c.*1290G>A rs9332677 0.00480
NM_000064.4(C3):c.3970-8C>T rs11569540 0.00476
NM_001754.5(RUNX1):c.508+182A>G rs76637156 0.00473
NM_139279.6(MCFD2):c.*569G>A rs149363149 0.00473
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_000128.4(F11):c.*404A>G rs139159299 0.00471
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) rs34104386 0.00463
NM_139279.6(MCFD2):c.*1111G>C rs181922575 0.00461
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_000129.4(F13A1):c.*966G>T rs138629563 0.00456
NM_022081.6(HPS4):c.*1850G>A rs143168600 0.00456
NM_001754.5(RUNX1):c.183G>A (p.Pro61=) rs76558016 0.00454
NM_000361.3(THBD):c.*1562G>T rs183647515 0.00453
NM_000361.3(THBD):c.*520C>G rs41282276 0.00453
NM_021870.3(FGG):c.*488C>T rs191297318 0.00453
NM_000552.5(VWF):c.55+8C>A rs114713980 0.00452
NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) rs5983 0.00445
NM_001001548.3(CD36):c.*1419+202G>T rs143304806 0.00443
NM_000313.4(PROS1):c.728-20G>A rs78230833 0.00438
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_000821.7(GGCX):c.*108G>T rs886056378 0.00434
NM_000312.4(PROC):c.399C>T (p.Arg133=) rs200045749 0.00427
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_000821.7(GGCX):c.*4413T>C rs144074011 0.00426
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000821.7(GGCX):c.*962G>C rs78372899 0.00425
NM_000312.4(PROC):c.924C>T (p.Pro308=) rs13388546 0.00422
NM_139279.6(MCFD2):c.*2056T>G rs145495352 0.00421
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_000186.4(CFH):c.-36G>C rs140356702 0.00418
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=) rs76731102 0.00414
NM_001754.5(RUNX1):c.-89T>C rs77393863 0.00412
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_172351.3(CD46):c.453C>T (p.Ser151=) rs145041158 0.00408
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_024006.6(VKORC1):c.129C>T (p.Cys43=) rs61742233 0.00401
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_000821.7(GGCX):c.*1277G>A rs60864851 0.00397
NM_145167.3(PIGM):c.6C>T (p.Gly2=) rs61757715 0.00397
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_139279.6(MCFD2):c.*354C>T rs191255002 0.00396
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001754.5(RUNX1):c.*2886T>C rs140071395 0.00390
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_001754.5(RUNX1):c.*2626A>G rs77550657 0.00387
NM_000064.4(C3):c.3958C>A (p.Arg1320=) rs141718696 0.00386
NM_000212.3(ITGB3):c.*1959C>T rs192215916 0.00384
NM_022081.6(HPS4):c.*1237C>T rs886057305 0.00384
NM_000128.4(F11):c.*1A>G rs143899287 0.00378
NM_000130.5(F5):c.4035A>G (p.Gln1345=) rs886045547 0.00377
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_000313.4(PROS1):c.*693G>A rs189450409 0.00369
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_003664.5(AP3B1):c.1838-19T>G rs140840619 0.00367
NM_000130.5(F5):c.2129A>G (p.His710Arg) rs115954845 0.00366
NM_005570.4(LMAN1):c.*57G>A rs41355245 0.00366
NM_005141.5(FGB):c.1239C>T (p.Asp413=) rs148950857 0.00364
NM_000361.3(THBD):c.*1469C>T rs3176124 0.00363
NM_000553.6(WRN):c.1577-17T>G rs145080962 0.00363
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000212.3(ITGB3):c.362-30G>A rs147055245 0.00361
NM_000505.4(F12):c.930G>C (p.Arg310Ser) rs77098327 0.00359
NM_000129.4(F13A1):c.2169C>T (p.Asp723=) rs5989 0.00357
NM_000312.4(PROC):c.536-6C>T rs148108718 0.00357
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_139027.6(ADAMTS13):c.1786+16G>A rs36220948 0.00349
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_000195.5(HPS1):c.*252C>T rs552596275 0.00346
NM_000212.3(ITGB3):c.58C>T (p.Leu20=) rs548495900 0.00345
NM_001754.5(RUNX1):c.*4238G>T rs138870671 0.00345
NM_021870.3(FGG):c.78+9G>A rs2066857 0.00345
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00344
NM_000892.5(KLKB1):c.808A>G (p.Thr270Ala) rs113884104 0.00344
NM_001754.5(RUNX1):c.144C>T (p.Ser48=) rs147889692 0.00344
NM_139027.6(ADAMTS13):c.1705+14C>T rs191816433 0.00342
NM_000064.4(C3):c.-28C>G rs339394 0.00341
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000412.5(HRG):c.125G>A (p.Arg42Gln) rs114895145 0.00329
NM_000313.4(PROS1):c.-62T>G rs556711298 0.00328
NM_005570.4(LMAN1):c.*1921T>C rs74735102 0.00327
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00324
NM_212550.5(BLOC1S3):c.*155_*156insAA rs570559399 0.00320
NM_139279.6(MCFD2):c.*1415C>T rs147096932 0.00317
NM_001754.5(RUNX1):c.*613A>T rs191743993 0.00315
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) rs36222894 0.00314
NM_000313.4(PROS1):c.1021G>A (p.Ala341Thr) rs189883848 0.00312
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_019616.4(F7):c.*620C>T rs151109093 0.00308
NM_000195.5(HPS1):c.*736C>T rs149708847 0.00306
NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00301
NM_000506.5(F2):c.1857G>A (p.Gln619=) rs113406770 0.00300
NM_001754.5(RUNX1):c.613+8C>T rs186585782 0.00300
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000130.5(F5):c.*891A>G rs9332674 0.00298
NC_000005.10:g.177409584C>G rs41309132 0.00297
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000064.4(C3):c.600-14C>T rs3745558 0.00289
NM_000130.5(F5):c.3751T>C (p.Leu1251=) rs1403856375 0.00287
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184 0.00287
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr) rs41348347 0.00281
NM_001994.3(F13B):c.1902G>A (p.Met634Ile) rs142886126 0.00281
NM_000313.4(PROS1):c.*783C>T rs137965257 0.00279
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000821.7(GGCX):c.189C>T (p.Ser63=) rs41290035 0.00277
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu) rs149677540 0.00276
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000195.5(HPS1):c.1532+5G>A rs199874645 0.00273
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_005141.5(FGB):c.682A>G (p.Thr228Ala) rs149599496 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000821.7(GGCX):c.582C>T (p.His194=) rs76767923 0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_021870.3(FGG):c.*496A>C rs187316301 0.00268
NM_005570.4(LMAN1):c.*3107T>A rs3760558 0.00267
NM_005570.4(LMAN1):c.*490C>T rs117480907 0.00265
NM_000313.4(PROS1):c.*992T>G rs538711279 0.00263
NM_000419.5(ITGA2B):c.409-24C>T rs199738595 0.00262
NM_000602.5(SERPINE1):c.*950C>T rs536144892 0.00262
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_172351.3(CD46):c.-11C>A rs74477032 0.00262
NM_172351.3(CD46):c.38C>T (p.Ser13Phe) rs138843816 0.00262
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000602.5(SERPINE1):c.*661T>C rs138333231 0.00259
NM_000130.5(F5):c.4563T>C (p.Asp1521=) rs113997556 0.00257
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_000313.4(PROS1):c.*454G>A rs539871594 0.00256
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000552.5(VWF):c.1596C>T (p.Gly532=) rs111240043 0.00251
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_021871.4(FGA):c.16A>G (p.Ile6Val) rs2070025 0.00250
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_019616.4(F7):c.739+7A>G rs519650 0.00249
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019 0.00248
NM_000301.5(PLG):c.1431C>T (p.Ser477=) rs4699 0.00248
NM_139279.6(MCFD2):c.*2848C>T rs142254354 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000130.5(F5):c.*2037G>A rs550454517 0.00246
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr) rs150104888 0.00246
NM_000361.3(THBD):c.*1171C>G rs143450327 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_001754.5(RUNX1):c.*113C>T rs187995123 0.00245
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000064.4(C3):c.4631-9C>T rs116302413 0.00242
NM_000552.5(VWF):c.114C>T (p.Phe38=) rs2229443 0.00241
NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu) rs41476148 0.00241
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met) rs74988902 0.00239
NM_000505.4(F12):c.1018+13G>C rs552424629 0.00239
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu) rs73846070 0.00238
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_000212.3(ITGB3):c.*1714T>C rs187420016 0.00235
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00235
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_139027.6(ADAMTS13):c.1705+7G>A rs78739717 0.00233
NM_000361.3(THBD):c.*1770T>C rs113252822 0.00232
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_139279.6(MCFD2):c.*517C>G rs761766519 0.00228
NM_000130.5(F5):c.*581C>A rs180742904 0.00227
NM_001754.5(RUNX1):c.*3444A>G rs183666715 0.00225
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000821.7(GGCX):c.*338T>C rs539761806 0.00222
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu) rs61736876 0.00221
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_005570.4(LMAN1):c.*753T>C rs182108487 0.00219
NM_000602.5(SERPINE1):c.*1787T>C rs182671641 0.00218
NM_019616.4(F7):c.*410C>T rs139474305 0.00218
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_019616.4(F7):c.1104C>T (p.Ala368=) rs6044 0.00216
NM_000129.4(F13A1):c.1032T>C (p.Asp344=) rs142274716 0.00215
NM_001001547.3(CD36):c.-287G>A rs190767214 0.00213
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_000064.4(C3):c.1686+20G>A rs76024222 0.00212
NM_000313.4(PROS1):c.*686G>A rs550909963 0.00211
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_001754.5(RUNX1):c.*1683_*1684del rs55761346 0.00208
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_139279.6(MCFD2):c.*84T>C rs182576601 0.00207
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_019616.4(F7):c.533T>G (p.Ile178Ser) rs141219108 0.00205
NM_000602.5(SERPINE1):c.*1521T>A rs180692432 0.00204
NM_001754.5(RUNX1):c.*3345A>T rs56151547 0.00203
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_000212.3(ITGB3):c.*2117G>T rs534143307 0.00198
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_000064.4(C3):c.2245+15G>A rs11569434 0.00192
NM_181507.2(HPS5):c.-75A>G rs193106100 0.00192
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_000064.4(C3):c.2685C>T (p.Ser895=) rs138884408 0.00189
NM_000130.5(F5):c.*216T>A rs186962725 0.00188
NM_000130.5(F5):c.*396C>A rs181328696 0.00188
NM_000130.5(F5):c.*363T>G rs115882472 0.00187
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_001375834.1(WIPF1):c.78T>C (p.Asn26=) rs35923393 0.00186
NM_000552.5(VWF):c.2103C>T (p.Cys701=) rs78995469 0.00185
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) rs2227606 0.00184
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_000130.5(F5):c.1612-9G>T rs6038 0.00182
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_000301.5(PLG):c.1803-17C>A rs201530084 0.00180
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp) rs78201625 0.00179
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) rs143711562 0.00178
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_000821.7(GGCX):c.*1245G>C rs190566964 0.00175
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_000129.4(F13A1):c.*208T>C rs192234804 0.00173
NM_000312.4(PROC):c.-21-5C>T rs41269833 0.00172
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000602.5(SERPINE1):c.*1388G>A rs71557295 0.00169
NM_001754.5(RUNX1):c.*3721A>T rs188246960 0.00168
NM_021871.4(FGA):c.780G>A (p.Glu260=) rs145563362 0.00167
NM_005141.5(FGB):c.*846T>G rs541828079 0.00166
NM_000130.5(F5):c.2142A>G (p.Glu714=) rs59779968 0.00164
NM_000204.5(CFI):c.916A>G (p.Ile306Val) rs113273712 0.00164
NM_000313.4(PROS1):c.*469A>C rs147496684 0.00164
NM_181507.2(HPS5):c.309A>G (p.Glu103=) rs77722090 0.00163
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907 0.00161
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_000821.7(GGCX):c.*4726A>C rs377381751 0.00160
NM_000312.4(PROC):c.*146T>C rs140461934 0.00158
NM_001001548.3(CD36):c.1150del (p.Ala384fs) rs551607784 0.00157
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala) rs140313679 0.00156
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000313.4(PROS1):c.1095T>G (p.Asn365Lys) rs199469491 0.00155
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_005141.5(FGB):c.*233G>T rs539731011 0.00154
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_000128.4(F11):c.*175C>T rs148610742 0.00153
NM_000128.4(F11):c.1305-9G>T rs4253426 0.00153
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000130.5(F5):c.106G>A (p.Val36Met) rs147487854 0.00150
NM_001001548.3(CD36):c.591A>T (p.Thr197=) rs141680676 0.00150
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_000821.7(GGCX):c.*463G>A rs553383801 0.00149
NM_000130.5(F5):c.1539A>G (p.Arg513=) rs140627208 0.00148
NM_000301.5(PLG):c.1962G>T (p.Val654=) rs4252196 0.00147
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_019616.4(F7):c.*605G>A rs144204350 0.00144
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_000130.5(F5):c.2939G>T (p.Arg980Leu) rs9332605 0.00143
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile) rs139573207 0.00142
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007 0.00140
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_021870.3(FGG):c.*535A>G rs146143405 0.00140
NM_032383.5(HPS3):c.*98A>T rs113951847 0.00139
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_000132.4(F8):c.4467C>G (p.Val1489=) rs35207609 0.00134
NM_000204.5(CFI):c.1657C>T (p.Pro553Ser) rs113460688 0.00134
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
NM_005141.5(FGB):c.298C>T (p.Pro100Ser) rs2227434 0.00134
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060 0.00133
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000313.4(PROS1):c.*380A>T rs138546241 0.00133
NM_000553.6(WRN):c.144A>G (p.Glu48=) rs145959045 0.00133
NM_172351.3(CD46):c.*1498G>T rs117431447 0.00133
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_001994.3(F13B):c.*162C>A rs180977741 0.00131
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000821.7(GGCX):c.-46C>T rs376371398 0.00130
NM_005570.4(LMAN1):c.*416C>T rs140370262 0.00130
NM_139027.6(ADAMTS13):c.1245-3C>T rs36219902 0.00130
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro) rs146153504 0.00129
NM_000133.4(F9):c.1381A>C (p.Thr461Pro) rs4149751 0.00129
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_145167.3(PIGM):c.819G>A (p.Pro273=) rs138151842 0.00128
NM_000132.4(F8):c.*1379A>G rs36101366 0.00127
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
NM_000821.7(GGCX):c.91G>A (p.Asp31Asn) rs74843621 0.00126
NM_012388.4(BLOC1S6):c.224+17C>A rs142188315 0.00126
NM_000133.4(F9):c.*1048G>A rs752396182 0.00125
NM_000195.5(HPS1):c.*719T>C rs557194861 0.00125
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000130.5(F5):c.-40T>C rs41272465 0.00121
NM_000506.5(F2):c.1628G>T (p.Arg543Leu) rs143064939 0.00121
NM_022081.6(HPS4):c.*1253G>A rs534586940 0.00121
NM_139279.6(MCFD2):c.*2423A>G rs139408737 0.00120
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000313.4(PROS1):c.234+5G>A rs187264712 0.00118
NM_000361.3(THBD):c.*158G>A rs3176121 0.00118
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_000133.4(F9):c.391+10T>G rs375734226 0.00116
NM_000602.5(SERPINE1):c.-20G>C rs36228265 0.00116
NM_000312.4(PROC):c.891C>T (p.Asp297=) rs5935 0.00115
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_001171506.2(MCFD2):c.*3591C>G rs78040887 0.00115
NM_003664.5(AP3B1):c.375+11G>A rs190638302 0.00114
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000133.4(F9):c.696T>C (p.Asp232=) rs140835723 0.00113
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_019616.4(F7):c.*1359G>A rs548802710 0.00113
NM_019616.4(F7):c.1267G>A (p.Glu423Lys) rs3093248 0.00113
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg) rs36222275 0.00112
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_000133.4(F9):c.819T>C (p.Val273=) rs1800455 0.00110
NM_000552.5(VWF):c.6756G>A (p.Glu2252=) rs71581020 0.00110
NM_001754.5(RUNX1):c.*4250C>T rs186103543 0.00110
NM_139279.6(MCFD2):c.*3272A>G rs148722702 0.00110
NM_000552.5(VWF):c.7082-13G>C rs71581025 0.00108
NM_000128.4(F11):c.861C>T (p.Ile287=) rs5964 0.00107
NM_000132.4(F8):c.*1001C>T rs183289212 0.00107
NM_019616.4(F7):c.*285G>A rs577927838 0.00107
NM_181507.2(HPS5):c.2562-14G>C rs199999276 0.00107
NM_000504.4(F10):c.1032C>T (p.Pro344=) rs41286610 0.00106
NM_019616.4(F7):c.*71T>A rs143748941 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_000130.5(F5):c.*441C>T rs188490117 0.00105
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_022081.6(HPS4):c.-585T>G rs187762406 0.00105
NM_000602.5(SERPINE1):c.*440T>C rs58167134 0.00104
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser) rs149091258 0.00104
NM_021870.3(FGG):c.*500C>T rs183036893 0.00103
NM_000552.5(VWF):c.2739A>C (p.Gly913=) rs35191786 0.00102
NM_139279.6(MCFD2):c.*64T>C rs754447509 0.00102
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000128.4(F11):c.1020C>T (p.Asn340=) rs149052026 0.00100
NM_000133.4(F9):c.1257G>T (p.Val419=) rs61731481 0.00100
NM_000821.7(GGCX):c.*4562G>A rs113066451 0.00099
NM_000552.5(VWF):c.1463C>G (p.Ala488Gly) rs144817575 0.00098
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000212.3(ITGB3):c.754A>G (p.Ile252Val) rs56173532 0.00097
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_000129.4(F13A1):c.*270C>T rs568780978 0.00096
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu) rs147263592 0.00096
NM_000602.5(SERPINE1):c.*425T>C rs148235544 0.00096
NM_000821.7(GGCX):c.1743G>A (p.Leu581=) rs56165933 0.00096
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_019616.4(F7):c.*1385T>C rs561442830 0.00096
NM_000312.4(PROC):c.1111A>G (p.Asn371Asp) rs145800354 0.00095
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000506.5(F2):c.*96C>T rs72550707 0.00093
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_139279.6(MCFD2):c.*1314C>T rs150644996 0.00093
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000312.4(PROC):c.66T>C (p.Pro22=) rs144300387 0.00092
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) rs5917 0.00091
NM_000553.6(WRN):c.107G>A (p.Arg36Gln) rs34084741 0.00091
NM_000821.7(GGCX):c.*3192C>T rs150878929 0.00091
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr) rs200459002 0.00091
NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg) rs201804540 0.00091
NM_000129.4(F13A1):c.*1253T>C rs1803604 0.00090
NM_000821.7(GGCX):c.*3067T>C rs139304933 0.00090
NM_000821.7(GGCX):c.*680G>C rs139300235 0.00090
NM_000821.7(GGCX):c.159C>A (p.Thr53=) rs61733104 0.00090
NM_000419.5(ITGA2B):c.1846G>A (p.Val616Met) rs141885563 0.00088
NM_001987.5(ETV6):c.1152+5A>G rs201196326 0.00088
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_181507.2(HPS5):c.*70C>T rs371535842 0.00087
NM_000064.4(C3):c.1344C>T (p.Thr448=) rs150934856 0.00086
NM_000064.4(C3):c.4172+19G>A rs181489450 0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_022081.6(HPS4):c.888C>T (p.Asn296=) rs138343171 0.00086
NM_024006.6(VKORC1):c.196G>A (p.Val66Met) rs72547529 0.00086
NM_000821.7(GGCX):c.*1725C>A rs184184818 0.00085
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541 0.00083
NM_000129.4(F13A1):c.160T>A (p.Phe54Ile) rs138690353 0.00083
NM_000505.4(F12):c.1018+12G>C rs758462343 0.00082
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=) rs142570561 0.00082
NM_000130.5(F5):c.*598T>G rs544753372 0.00081
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) rs144262027 0.00081
NM_000505.4(F12):c.348C>A (p.Gly116=) rs140243617 0.00081
NM_000132.4(F8):c.2453C>T (p.Thr818Ile) rs142274278 0.00080
NM_005570.4(LMAN1):c.214+7C>T rs2277728 0.00080
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) rs201827537 0.00078
NM_000212.3(ITGB3):c.*271C>G rs189009415 0.00078
NM_022081.5(HPS4):c.-628C>G rs56821996 0.00078
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg) rs144808448 0.00078
NM_139279.6(MCFD2):c.*557G>A rs185756640 0.00078
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00077
NM_000552.5(VWF):c.6938G>A (p.Arg2313His) rs62641242 0.00077
NM_000602.5(SERPINE1):c.*891C>T rs550508703 0.00077
NM_000130.5(F5):c.1021C>T (p.Arg341Cys) rs200532195 0.00076
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_000312.4(PROC):c.462G>A (p.Glu154=) rs201952795 0.00076
NM_000506.5(F2):c.843C>T (p.Gly281=) rs147699032 0.00076
NM_001001547.3(CD36):c.-193C>G rs182279912 0.00076
NM_001375834.1(WIPF1):c.32C>T (p.Pro11Leu) rs148943760 0.00076
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu) rs138864377 0.00076
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00075
NM_000821.7(GGCX):c.*3647A>G rs541759232 0.00075
NM_000130.5(F5):c.5431A>T (p.Met1811Leu) rs138877178 0.00074
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) rs147175166 0.00073
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_000505.4(F12):c.120C>T (p.Leu40=) rs149368999 0.00073
NM_001375834.1(WIPF1):c.978C>G (p.Ser326Arg) rs147080148 0.00073
NM_139027.6(ADAMTS13):c.2580C>T (p.Val860=) rs147112200 0.00073
NM_000301.5(PLG):c.598A>G (p.Thr200Ala) rs149145958 0.00072
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_001754.5(RUNX1):c.1086G>C (p.Ser362=) rs143947839 0.00072
NM_145167.3(PIGM):c.999C>T (p.Ser333=) rs187311473 0.00072
NM_000821.7(GGCX):c.789C>T (p.Asp263=) rs146085955 0.00071
NM_022081.6(HPS4):c.*769G>A rs187297219 0.00071
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000821.7(GGCX):c.529A>G (p.Asn177Asp) rs149039591 0.00070
NM_019616.4(F7):c.*498C>T rs557431193 0.00070
NM_024747.6(HPS6):c.1692C>T (p.Pro564=) rs147449083 0.00070
NM_139279.6(MCFD2):c.-7+11T>A rs201752014 0.00070
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_000821.7(GGCX):c.*1916C>T rs192730155 0.00069
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882 0.00068
NM_001987.5(ETV6):c.380G>A (p.Arg127Gln) rs140357643 0.00068
NM_005570.4(LMAN1):c.*2637T>C rs769626957 0.00068
NM_000128.4(F11):c.*822A>G rs558079340 0.00067
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000130.5(F5):c.1785G>A (p.Glu595=) rs112333778 0.00066
NM_001001548.3(CD36):c.879T>C (p.Phe293=) rs188717259 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_000212.3(ITGB3):c.2131C>T (p.Pro711Ser) rs138729147 0.00065
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_019616.4(F7):c.*499G>A rs575689457 0.00065
NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=) rs148365271 0.00064
NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=) rs144178018 0.00064
NM_000130.5(F5):c.*1912C>T rs865812546 0.00063
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000505.4(F12):c.1107G>C (p.Ser369=) rs141473119 0.00063
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val) rs141211612 0.00063
NM_001754.5(RUNX1):c.*3021A>G rs547268403 0.00063
NM_001754.5(RUNX1):c.654C>T (p.Ser218=) rs145230602 0.00063
NM_005570.4(LMAN1):c.*652T>C rs185861958 0.00063
NM_019616.4(F7):c.586G>A (p.Val196Met) rs139309572 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_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_005570.4(LMAN1):c.1221-4T>C rs200829791 0.00061
NM_000361.3(THBD):c.683C>T (p.Pro228Leu) rs375011249 0.00060
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu) rs150576611 0.00060
NM_001001548.3(CD36):c.1133G>T (p.Gly378Val) rs146027667 0.00060
NM_032383.5(HPS3):c.*96T>A rs879086473 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_000195.5(HPS1):c.*943C>T rs558066370 0.00059
NM_000312.4(PROC):c.30C>T (p.Phe10=) rs148490199 0.00059
NM_005570.4(LMAN1):c.*2021A>C rs140144803 0.00059
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115 0.00058
NM_000130.5(F5):c.1086C>T (p.Asp362=) rs147952496 0.00058
NM_000313.4(PROS1):c.258A>G (p.Leu86=) rs139964194 0.00058
NM_000361.3(THBD):c.*41T>C rs377311614 0.00058
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_005141.5(FGB):c.115-12C>T rs187641148 0.00058
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_032383.5(HPS3):c.884+7T>C rs202215373 0.00058
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_000506.5(F2):c.1541A>G (p.Asn514Ser) rs144011338 0.00056
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056
NM_000064.4(C3):c.2190C>T (p.Tyr730=) rs142455019 0.00055
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000506.5(F2):c.1464G>A (p.Thr488=) rs146742525 0.00055
NM_001001548.3(CD36):c.1404G>A (p.Ser468=) rs141626483 0.00055
NM_001375834.1(WIPF1):c.182-16G>A rs139908988 0.00055
NM_000130.5(F5):c.2752C>T (p.Pro918Ser) rs149389480 0.00054
NM_000132.4(F8):c.*1214G>A rs34700571 0.00054
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_000821.7(GGCX):c.*2408T>C rs556052128 0.00054
NM_000821.7(GGCX):c.1906C>A (p.Pro636Thr) rs61733105 0.00054
NM_001171506.2(MCFD2):c.-205G>C rs1382510299 0.00054
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
NM_000129.4(F13A1):c.1860G>C (p.Leu620=) rs138943514 0.00053
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) rs145180358 0.00053
NM_000130.5(F5):c.-84G>A rs543172813 0.00053
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000313.4(PROS1):c.1248G>A (p.Pro416=) rs148869673 0.00053
NM_000361.3(THBD):c.*26C>T rs13306852 0.00053
NM_000377.3(WAS):c.90C>T (p.His30=) rs148800063 0.00053
NM_000552.5(VWF):c.1077C>T (p.Pro359=) rs71582884 0.00053
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_005141.5(FGB):c.*450T>A rs183181144 0.00053
NM_000132.4(F8):c.*426G>A rs782273756 0.00052
NM_000133.4(F9):c.*476C>A rs4149763 0.00052
NM_000186.4(CFH):c.245-15T>C rs200079172 0.00052
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_000821.7(GGCX):c.*2490T>C rs574322048 0.00052
NM_001710.6(CFB):c.*47C>T rs375895797 0.00052
NM_000506.5(F2):c.191C>T (p.Thr64Met) rs142001812 0.00051
NM_000552.5(VWF):c.2281+13C>T rs183077797 0.00051
NM_000821.7(GGCX):c.*1367C>A rs559519177 0.00051
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser) rs138276021 0.00051
NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg) rs147071939 0.00051
NM_019616.4(F7):c.*1614A>C rs577978392 0.00051
NM_000064.4(C3):c.1480-4C>A rs200965763 0.00050
NM_000132.4(F8):c.5430T>G (p.Ser1810=) rs142177821 0.00050
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_000602.5(SERPINE1):c.357G>A (p.Ala119=) rs6091 0.00050
NM_005570.4(LMAN1):c.1392G>A (p.Pro464=) rs149932943 0.00050
NM_019616.4(F7):c.142C>T (p.Pro48Ser) rs373376565 0.00050
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00049
NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn) rs150740880 0.00049
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870 0.00049
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr) rs141777100 0.00049
NM_001710.6(CFB):c.658+7T>C rs541260302 0.00049
NM_172351.3(CD46):c.*1111C>G rs193023975 0.00049
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000133.4(F9):c.*293C>T rs747670394 0.00048
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_019616.4(F7):c.-30A>C rs539578931 0.00048
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626 0.00048
NM_000132.4(F8):c.*78C>T rs782435894 0.00047
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000821.7(GGCX):c.*454C>T rs578230076 0.00047
NM_001001548.3(CD36):c.390A>T (p.Thr130=) rs148114593 0.00047
NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys) rs148175242 0.00047
NM_001994.3(F13B):c.1089A>C (p.Ala363=) rs117019969 0.00047
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) rs114872740 0.00047
NM_022081.6(HPS4):c.-395A>C rs147631281 0.00047
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) rs147430035 0.00047
NM_000312.4(PROC):c.71-17C>T rs138057813 0.00046
NM_001994.3(F13B):c.986-4T>C rs76405247 0.00046
NM_003647.3(DGKE):c.235C>G (p.Gln79Glu) rs143468147 0.00046
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_019616.4(F7):c.*1475G>A rs3093258 0.00046
NM_019616.4(F7):c.483C>T (p.Asp161=) rs6040 0.00046
NM_000488.4(SERPINC1):c.678C>T (p.Thr226=) rs2227627 0.00045
NM_005570.4(LMAN1):c.*48G>A rs148071519 0.00045
NM_022081.5(HPS4):c.-661G>T rs753668169 0.00045
NM_032383.5(HPS3):c.*95A>C rs1013031553 0.00045
NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=) rs146073007 0.00045
NM_000064.4(C3):c.1449C>T (p.His483=) rs140133060 0.00044
NM_000133.4(F9):c.907C>T (p.His303Tyr) rs1801202 0.00044
NM_000313.4(PROS1):c.1156-19T>C rs534457194 0.00044
NM_000552.5(VWF):c.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_000821.7(GGCX):c.*4242C>G rs754152731 0.00044
NM_000128.4(F11):c.*928G>A rs556465646 0.00043
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly) rs141366997 0.00043
NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala) rs142846443 0.00043
NM_000602.5(SERPINE1):c.1020C>T (p.Val340=) rs201351580 0.00043
NM_001754.5(RUNX1):c.*933T>C rs559096806 0.00043
NM_022081.6(HPS4):c.618G>A (p.Pro206=) rs139165558 0.00043
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=) rs138401488 0.00043
NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=) rs148472763 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000821.7(GGCX):c.*1698A>G rs143548117 0.00042
NM_001994.3(F13B):c.1228G>A (p.Gly410Arg) rs144134146 0.00042
NM_000064.4(C3):c.1452G>A (p.Glu484=) rs146594928 0.00041
NM_000064.4(C3):c.1731T>C (p.Pro577=) rs148182019 0.00041
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648 0.00041
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) rs143521873 0.00041
NM_000552.5(VWF):c.5665-9C>A rs201789774 0.00041
NM_000821.7(GGCX):c.*3269A>G rs563109158 0.00041
NM_000821.7(GGCX):c.*469C>T rs557756406 0.00041
NM_001001548.3(CD36):c.1163A>T (p.Gln388Leu) rs201355711 0.00041
NM_001754.5(RUNX1):c.968-16C>T rs558410967 0.00041
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met) rs141811556 0.00041
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln) rs142779872 0.00041
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_022081.6(HPS4):c.704A>G (p.His235Arg) rs150166679 0.00040
NM_139279.6(MCFD2):c.*912C>T rs189018618 0.00040
NM_145167.3(PIGM):c.950G>A (p.Cys317Tyr) rs138769872 0.00040
NM_000064.4(C3):c.-44C>T rs773043245 0.00039
NM_000130.5(F5):c.5558G>T (p.Gly1853Val) rs182566496 0.00039
NM_000132.4(F8):c.6115+27C>T rs375609267 0.00039
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_000602.5(SERPINE1):c.-54C>T rs760811030 0.00039
NM_001375834.1(WIPF1):c.645C>T (p.Pro215=) rs141354164 0.00039
NM_003664.5(AP3B1):c.38G>C (p.Gly13Ala) rs139760966 0.00039
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933 0.00039
NM_032383.5(HPS3):c.592G>A (p.Val198Ile) rs144990171 0.00039
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_139027.6(ADAMTS13):c.415-5C>T rs200230025 0.00039
NM_000130.5(F5):c.1391C>T (p.Thr464Ile) rs141768227 0.00038
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000212.3(ITGB3):c.1800G>A (p.Leu600=) rs139884210 0.00038
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000552.5(VWF):c.2547-5C>T rs373203368 0.00038
NM_000552.5(VWF):c.7362C>T (p.Thr2454=) rs146504585 0.00038
NM_000552.5(VWF):c.7619T>C (p.Val2540Ala) rs150778949 0.00038
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg) rs76459136 0.00038
NM_005141.5(FGB):c.1244+7G>A rs142937995 0.00038
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) rs201909029 0.00038
NM_005570.4(LMAN1):c.*2044A>G rs191555835 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_001754.5(RUNX1):c.*1096A>C rs528969148 0.00037
NM_000128.4(F11):c.539A>G (p.Lys180Arg) rs190283743 0.00036
NM_000186.3(CFH):c.-175T>C rs762143457 0.00036
NM_000186.4(CFH):c.1111C>A (p.His371Asn) rs145650378 0.00036
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792 0.00036
NM_000195.5(HPS1):c.473G>A (p.Arg158His) rs140480324 0.00036
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000212.3(ITGB3):c.*480T>C rs553453000 0.00036
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00036
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys) rs41400249 0.00036
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_001754.5(RUNX1):c.-59-1G>A rs192963187 0.00036
NM_001754.5(RUNX1):c.698G>A (p.Arg233His) rs150042294 0.00036
NM_024006.6(VKORC1):c.352G>C (p.Val118Leu) rs753570105 0.00036
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) rs145825553 0.00036
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile) rs34256013 0.00036
NM_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373 0.00035
NM_000130.5(F5):c.4835A>T (p.Asp1612Val) rs141589936 0.00035
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser) rs140260039 0.00035
NM_022081.6(HPS4):c.*1236G>A rs1356149759 0.00035
NM_032383.5(HPS3):c.*96TC[3] rs1553756780 0.00035
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) rs145175796 0.00035
NM_000064.4(C3):c.4824C>T (p.Ser1608=) rs139457470 0.00034
NM_000130.5(F5):c.2339C>T (p.Pro780Leu) rs200146772 0.00034
NM_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_000313.4(PROS1):c.1041A>G (p.Ser347=) rs376656035 0.00034
NM_000821.7(GGCX):c.*270T>G rs886056377 0.00034
NM_000821.7(GGCX):c.*598C>T rs553605433 0.00034
NM_001001548.3(CD36):c.550G>A (p.Asp184Asn) rs138897347 0.00034
NM_005141.5(FGB):c.*624C>T rs754198978 0.00034
NM_005570.4(LMAN1):c.478-15T>C rs183354795 0.00034
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) rs202132393 0.00034
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_000128.4(F11):c.*728T>C rs566734345 0.00033
NM_000129.4(F13A1):c.*67C>T rs182425546 0.00033
NM_000313.4(PROS1):c.1494T>C (p.Asn498=) rs76877671 0.00033
NM_000552.5(VWF):c.874+7C>T rs201187598 0.00033
NM_000602.5(SERPINE1):c.*617T>A rs186133446 0.00033
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile) rs146303784 0.00033
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987 0.00033
NM_172351.3(CD46):c.198A>T (p.Lys66Asn) rs150429980 0.00033
NM_000128.4(F11):c.1305-5C>T rs375998777 0.00032
NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter) rs267606789 0.00032
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys) rs142902005 0.00032
NM_000312.4(PROC):c.1299C>T (p.Gly433=) rs151319700 0.00032
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_000821.7(GGCX):c.*4895T>A rs759788569 0.00032
NM_001375834.1(WIPF1):c.212G>A (p.Gly71Asp) rs145037448 0.00032
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_005141.5(FGB):c.*1671C>T rs765773409 0.00032
NM_181507.2(HPS5):c.2721A>G (p.Ser907=) rs139795577 0.00032
NC_000003.12:g.93973939G>C rs149028936 0.00031
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000064.4(C3):c.1909G>C (p.Gly637Arg) rs149850773 0.00031
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011 0.00031
NM_000133.4(F9):c.*794A>G rs1057515800 0.00031
NM_000186.4(CFH):c.2957-7A>G rs190778135 0.00031
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe) rs146695034 0.00031
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000313.4(PROS1):c.-135C>T rs750502941 0.00031
NM_000313.4(PROS1):c.496A>C (p.Asn166His) rs758625995 0.00031
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_000504.4(F10):c.646G>A (p.Asp216Asn) rs144711550 0.00031
NM_000506.5(F2):c.234G>A (p.Thr78=) rs151121282 0.00031
NM_000821.7(GGCX):c.1355G>C (p.Ser452Thr) rs144429522 0.00031
NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr) rs201113371 0.00031
NM_001754.5(RUNX1):c.*2005A>G rs115087797 0.00031
NM_005570.4(LMAN1):c.*185A>T rs764761931 0.00031
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359 0.00031
NM_019616.4(F7):c.813G>A (p.Thr271=) rs148965964 0.00031
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) rs199554805 0.00031
NM_139279.6(MCFD2):c.*62T>G rs886056117 0.00031
NM_000130.5(F5):c.1181T>C (p.Val394Ala) rs142875000 0.00030
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
NM_000195.5(HPS1):c.1940+6G>A rs375927441 0.00030
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000504.4(F10):c.947A>G (p.Lys316Arg) rs144679674 0.00030
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) rs145481980 0.00030
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_000130.5(F5):c.1158A>G (p.Gln386=) rs148623862 0.00029
NM_000130.5(F5):c.5490G>A (p.Leu1830=) rs149092241 0.00029
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000212.3(ITGB3):c.*1960G>A rs762687226 0.00029
NM_000313.4(PROS1):c.-261C>T rs886058930 0.00029
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn) rs146366248 0.00029
NM_000361.3(THBD):c.1361T>C (p.Val454Ala) rs147377392 0.00029
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 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_000821.7(GGCX):c.1107C>T (p.Leu369=) rs145056129 0.00029
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) rs121964951 0.00029
NM_001994.3(F13B):c.1285T>C (p.Tyr429His) rs201427054 0.00029
NM_005570.4(LMAN1):c.*1493A>G rs529247031 0.00029
NM_024747.6(HPS6):c.1363T>C (p.Leu455=) rs144777687 0.00029
NM_000128.4(F11):c.1084G>A (p.Gly362Arg) rs142096488 0.00028
NM_000313.4(PROS1):c.-48C>A rs775507528 0.00028
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_000504.4(F10):c.872G>A (p.Arg291Gln) rs149212700 0.00028
NM_000821.7(GGCX):c.*106T>G rs530539627 0.00028
NM_001754.5(RUNX1):c.*3417A>G rs529009591 0.00028
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_024006.6(VKORC1):c.202C>T (p.His68Tyr) rs145273772 0.00028
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=) rs144916851 0.00028
NM_181507.2(HPS5):c.1692T>C (p.Pro564=) rs150590027 0.00028
NM_000064.4(C3):c.3855C>T (p.Asp1285=) rs142359391 0.00027
NM_000130.5(F5):c.2806C>G (p.Gln936Glu) rs138086769 0.00027
NM_000130.5(F5):c.566C>T (p.Pro189Leu) rs141800405 0.00027
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000602.5(SERPINE1):c.456G>C (p.Val152=) rs200318916 0.00027
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750 0.00027
NM_001375834.1(WIPF1):c.776C>T (p.Ala259Val) rs139003789 0.00027
NM_001754.5(RUNX1):c.*2840A>T rs188812411 0.00027
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_005570.4(LMAN1):c.1050G>T (p.Arg350=) rs185875271 0.00027
NM_024747.6(HPS6):c.-5G>A rs376684120 0.00027
NM_181507.2(HPS5):c.*812A>C rs755078355 0.00027
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000130.5(F5):c.2835G>A (p.Gly945=) rs370927080 0.00026
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_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000204.4(CFI):c.-171G>A rs182477786 0.00026
NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn) rs763017753 0.00026
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000313.4(PROS1):c.*119T>C rs886058924 0.00026
NM_000361.3(THBD):c.-12C>T rs370548660 0.00026
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
NM_000419.5(ITGA2B):c.671-13C>T rs200108644 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_000602.5(SERPINE1):c.*1266G>C rs778538888 0.00026
NM_000821.7(GGCX):c.24G>A (p.Ala8=) rs371622780 0.00026
NM_001001548.3(CD36):c.*1419+163C>T rs531464767 0.00026
NM_001001548.3(CD36):c.572C>T (p.Pro191Leu) rs143150225 0.00026
NM_001994.3(F13B):c.354C>T (p.Cys118=) rs142562955 0.00026
NM_005141.5(FGB):c.*1771C>T rs776780011 0.00026
NM_005570.4(LMAN1):c.*1616A>G rs543483287 0.00026
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) rs140732502 0.00026
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) rs138303522 0.00026
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313 0.00026
NM_172351.3(CD46):c.276C>T (p.Asp92=) rs148383499 0.00026
NM_000129.4(F13A1):c.130+15C>G rs200488257 0.00025
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00025
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00025
NM_000361.3(THBD):c.302G>C (p.Arg101Pro) rs546519295 0.00025
NM_000821.7(GGCX):c.849G>C (p.Val283=) rs149603998 0.00025
NM_005570.4(LMAN1):c.*210G>A rs182963083 0.00025
NM_005570.4(LMAN1):c.*424T>G rs886054037 0.00025
NM_022081.6(HPS4):c.-42A>G rs369803062 0.00025
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00025
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu) rs149039105 0.00025
NM_000128.4(F11):c.*584A>T rs766777099 0.00024
NM_000128.4(F11):c.*884C>T rs117035365 0.00024
NM_000132.4(F8):c.601+17G>A rs200951849 0.00024
NM_000195.5(HPS1):c.-91T>A rs542654066 0.00024
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) rs181729783 0.00024
NM_000204.5(CFI):c.719C>G (p.Ala240Gly) rs146444258 0.00024
NM_000312.4(PROC):c.1161T>C (p.Cys387=) rs148855579 0.00024
NM_000312.4(PROC):c.263-4G>A rs373494631 0.00024
NM_000313.4(PROS1):c.*1103A>G rs779418455 0.00024
NM_000313.4(PROS1):c.*155T>A rs534064879 0.00024
NM_000313.4(PROS1):c.469+4C>T rs200980997 0.00024
NM_000553.6(WRN):c.3101A>T (p.Tyr1034Phe) rs200370409 0.00024
NM_000821.7(GGCX):c.*3584C>T rs748992023 0.00024
NM_001001547.3(CD36):c.-211C>T rs151218598 0.00024
NM_001001548.3(CD36):c.655G>T (p.Asp219Tyr) rs201715989 0.00024
NM_001754.5(RUNX1):c.*3580T>G rs373937576 0.00024
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_019616.4(F7):c.*340T>C rs545497651 0.00024
NM_024747.6(HPS6):c.1035G>A (p.Arg345=) rs374860183 0.00024
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_181507.2(HPS5):c.*688A>G rs145507598 0.00024
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser) rs745888361 0.00023
NM_000186.4(CFH):c.3291G>A (p.Thr1097=) rs409953 0.00023
NM_000361.3(THBD):c.*1011C>A rs534762196 0.00023
NM_000552.5(VWF):c.1446C>G (p.Ile482Met) rs569669757 0.00023
NM_000552.5(VWF):c.6016G>A (p.Glu2006Lys) rs140229844 0.00023
NM_001001548.3(CD36):c.649G>A (p.Gly217Arg) rs200067322 0.00023
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_022081.6(HPS4):c.1192A>C (p.Arg398=) rs375655372 0.00023
NM_024747.6(HPS6):c.1039G>A (p.Val347Ile) rs139517839 0.00023
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val) rs202188533 0.00023
NM_181507.2(HPS5):c.*95C>A rs776484868 0.00023
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg) rs149564550 0.00023
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_000132.4(F8):c.190G>A (p.Val64Met) rs187738612 0.00022
NM_000195.5(HPS1):c.507+13C>T rs371779884 0.00022
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_000361.3(THBD):c.282C>G (p.Pro94=) rs538290084 0.00022
NM_000506.5(F2):c.371G>A (p.Arg124Gln) rs139148365 0.00022
NM_000602.5(SERPINE1):c.*207C>T rs747135553 0.00022
NM_001754.5(RUNX1):c.98-21T>C rs371813424 0.00022
NM_019616.4(F7):c.*550C>T rs529590090 0.00022
NM_022081.5(HPS4):c.-622G>C rs886057324 0.00022
NM_139279.6(MCFD2):c.249del (p.Asp83fs) rs1294221028 0.00022
NM_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 0.00021
NM_000128.4(F11):c.1029-11T>C rs373348576 0.00021
NM_000130.5(F5):c.1000A>G (p.Arg334Gly) rs118203905 0.00021
NM_000130.5(F5):c.2864G>T (p.Ser955Ile) rs199507543 0.00021
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000195.5(HPS1):c.938G>A (p.Gly313Asp) rs1450496925 0.00021
NM_000361.3(THBD):c.*338C>T rs536637715 0.00021
NM_000361.3(THBD):c.866A>T (p.Asn289Ile) rs143748797 0.00021
NM_000377.3(WAS):c.1455C>T (p.Asp485=) rs35359501 0.00021
NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp) rs142445733 0.00021
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr) rs772809607 0.00021
NM_000504.4(F10):c.57G>A (p.Leu19=) rs370154986 0.00021
NM_000506.5(F2):c.495G>A (p.Thr165=) rs144857547 0.00021
NM_000821.7(GGCX):c.*2060T>C rs886056369 0.00021
NM_001375834.1(WIPF1):c.159C>T (p.Asp53=) rs147372728 0.00021
NM_001754.5(RUNX1):c.648C>T (p.Pro216=) rs199759556 0.00021
NM_001994.3(F13B):c.1257C>A (p.Ser419=) rs761403510 0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_019616.4(F7):c.*543A>G rs886049991 0.00021
NM_022081.6(HPS4):c.-568T>A rs1023210861 0.00021
NM_022081.6(HPS4):c.133-6C>T rs571184796 0.00021
NM_139027.6(ADAMTS13):c.1976G>A (p.Arg659Lys) rs150764227 0.00021
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile) rs140639242 0.00021
NM_139279.6(MCFD2):c.*1875T>C rs552695942 0.00021
NM_181507.2(HPS5):c.*362G>A rs148862838 0.00021
NM_000128.4(F11):c.1028+9T>C rs376630194 0.00020
NM_000130.5(F5):c.*1780G>T rs559071301 0.00020
NM_000132.4(F8):c.*30G>A rs376482768 0.00020
NM_000195.5(HPS1):c.118-19T>A rs758750874 0.00020
NM_000195.5(HPS1):c.1801C>T (p.Leu601=) rs368146160 0.00020
NM_000312.4(PROC):c.-54G>A rs2069936 0.00020
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_001001548.3(CD36):c.5G>T (p.Gly2Val) rs201759988 0.00020
NM_001375834.1(WIPF1):c.243C>T (p.Gly81=) rs146533814 0.00020
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) rs139107954 0.00020
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=) rs12720691 0.00020
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) rs141068948 0.00020
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His) rs151048660 0.00020
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) rs147732725 0.00020
NM_145167.3(PIGM):c.122G>A (p.Arg41Gln) rs139936490 0.00020
NM_000064.4(C3):c.1650C>T (p.Ser550=) rs138835619 0.00019
NM_000064.4(C3):c.1923C>T (p.Asp641=) rs113044084 0.00019
NM_000064.4(C3):c.2354+19C>T rs192942944 0.00019
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_000130.5(F5):c.5124C>T (p.Tyr1708=) rs199568344 0.00019
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 0.00019
NM_000132.4(F8):c.6276G>A (p.Val2092=) rs199522131 0.00019
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_000412.5(HRG):c.72C>A (p.Cys24Ter) rs148593044 0.00019
NM_000419.5(ITGA2B):c.118A>G (p.Thr40Ala) rs77120952 0.00019
NM_000506.5(F2):c.798C>T (p.Asp266=) rs138260543 0.00019
NM_000552.5(VWF):c.5171-7C>T rs368303633 0.00019
NM_000602.5(SERPINE1):c.626G>A (p.Arg209His) rs2227669 0.00019
NM_000821.7(GGCX):c.*2284C>G rs572084939 0.00019
NM_000821.7(GGCX):c.*2285T>A rs553827130 0.00019
NM_000821.7(GGCX):c.*3921G>A rs886056360 0.00019
NM_000821.7(GGCX):c.*4840T>C rs149495444 0.00019
NM_001375834.1(WIPF1):c.798A>G (p.Pro266=) rs150911269 0.00019
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_001754.5(RUNX1):c.*195C>T rs1464816967 0.00019
NM_001754.5(RUNX1):c.*436G>C rs369123316 0.00019
NM_005141.5(FGB):c.*592G>A rs376470048 0.00019
NM_005570.4(LMAN1):c.*1298A>G rs762134361 0.00019
NM_005570.4(LMAN1):c.*939C>T rs149781610 0.00019
NM_019616.4(F7):c.*1383C>T rs117025399 0.00019
NM_019616.4(F7):c.*894C>T rs181035432 0.00019
NM_019616.4(F7):c.930G>A (p.Thr310=) rs202240468 0.00019
NM_024006.6(VKORC1):c.*243G>A rs141753512 0.00019
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) rs144257610 0.00019
NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His) rs149953167 0.00019
NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=) rs754541465 0.00019
NM_145167.3(PIGM):c.1017C>T (p.Tyr339=) rs200046659 0.00019
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp) rs752089199 0.00019
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=) rs139039126 0.00019
NM_000130.5(F5):c.1297-13T>C rs372389170 0.00018
NM_000132.4(F8):c.*1166A>G rs984572217 0.00018
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000361.3(THBD):c.-151G>T rs16984852 0.00018
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_000419.5(ITGA2B):c.1708G>A (p.Gly570Arg) rs146382550 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg) rs61750598 0.00018
NM_000821.7(GGCX):c.15C>T (p.Ala5=) rs199867398 0.00018
NM_000821.7(GGCX):c.540-8C>T rs374625413 0.00018
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_003664.5(AP3B1):c.402C>T (p.Ser134=) rs144761256 0.00018
NM_005570.4(LMAN1):c.846G>A (p.Ser282=) rs377676111 0.00018
NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=) rs148849381 0.00018
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781 0.00017
NM_000129.4(F13A1):c.1761G>A (p.Ala587=) rs377479323 0.00017
NM_000130.5(F5):c.6402G>A (p.Thr2134=) rs144486119 0.00017
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000132.4(F8):c.3836G>A (p.Arg1279Lys) rs139451429 0.00017
NM_000133.4(F9):c.1029C>T (p.Asn343=) rs145026483 0.00017
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_000195.5(HPS1):c.483G>T (p.Glu161Asp) rs573247261 0.00017
NM_000212.3(ITGB3):c.*460A>G rs539834727 0.00017
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 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_000552.5(VWF):c.7007C>T (p.Pro2336Leu) rs144769404 0.00017
NM_000602.5(SERPINE1):c.*275C>T rs551400163 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_001001548.3(CD36):c.403T>C (p.Phe135Leu) rs140968958 0.00017
NM_001261826.3(AP3D1):c.2001+6C>T rs376715473 0.00017
NM_001375834.1(WIPF1):c.1116G>A (p.Pro372=) rs138920689 0.00017
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001754.5(RUNX1):c.*107G>A rs886057045 0.00017
NM_003664.5(AP3B1):c.*482C>T rs538570213 0.00017
NM_003664.5(AP3B1):c.1995A>G (p.Lys665=) rs201097736 0.00017
NM_012388.4(BLOC1S6):c.51C>G (p.Pro17=) rs150470765 0.00017
NM_022081.6(HPS4):c.1680G>A (p.Pro560=) rs527653764 0.00017
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) rs145158238 0.00017
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483 0.00016
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993 0.00016
NM_000128.4(F11):c.1431C>T (p.Ser477=) rs149568223 0.00016
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241 0.00016
NM_000129.4(F13A1):c.911G>A (p.Arg304Gln) rs139164988 0.00016
NM_000130.5(F5):c.*838T>C rs376103455 0.00016
NM_000130.5(F5):c.4346C>T (p.Pro1449Leu) rs113768654 0.00016
NM_000130.5(F5):c.4641T>C (p.Asp1547=) rs138504020 0.00016
NM_000130.5(F5):c.4972-14A>C rs763080313 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000130.5(F5):c.628C>A (p.Gln210Lys) rs144937515 0.00016
NM_000130.5(F5):c.6401C>T (p.Thr2134Met) rs199601865 0.00016
NM_000132.4(F8):c.1272-5T>C rs377416503 0.00016
NM_000132.4(F8):c.2383A>G (p.Arg795Gly) rs2228152 0.00016
NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr) rs374389539 0.00016
NM_000195.5(HPS1):c.1095G>A (p.Val365=) rs560336269 0.00016
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450 0.00016
NM_000301.5(PLG):c.317G>C (p.Gly106Ala) rs778599053 0.00016
NM_000312.4(PROC):c.1212G>A (p.Gly404=) rs370637632 0.00016
NM_000313.4(PROS1):c.1815C>T (p.Ala605=) rs758204799 0.00016
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00016
NM_000504.4(F10):c.460G>A (p.Gly154Arg) rs149285827 0.00016
NM_000504.4(F10):c.747+11G>A rs376728587 0.00016
NM_000504.4(F10):c.747+8T>C rs200618182 0.00016
NM_000552.5(VWF):c.1781C>G (p.Ala594Gly) rs267607308 0.00016
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000821.7(GGCX):c.*2925G>C rs188039599 0.00016
NM_000821.7(GGCX):c.*3704G>A rs375566923 0.00016
NM_000821.7(GGCX):c.*3930T>C rs1046049435 0.00016
NM_001001548.3(CD36):c.1000A>G (p.Lys334Glu) rs199628571 0.00016
NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=) rs41270199 0.00016
NM_001754.5(RUNX1):c.*3582G>A rs193254325 0.00016
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_012388.4(BLOC1S6):c.125T>C (p.Leu42Ser) rs201461886 0.00016
NM_019616.4(F7):c.*938G>A rs778531585 0.00016
NM_021870.3(FGG):c.318C>T (p.Asp106=) rs150242757 0.00016
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) rs376165374 0.00016
NM_032122.5(DTNBP1):c.512-16T>C rs112527545 0.00016
NM_139025.4(ADAMTS13):c.-280G>A rs777585429 0.00016
NM_139027.6(ADAMTS13):c.-26C>T rs372036592 0.00016
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu) rs142060916 0.00016
NM_139279.6(MCFD2):c.*1187C>T rs550737178 0.00016
NM_139279.6(MCFD2):c.*2017C>T rs886056111 0.00016
NM_139279.6(MCFD2):c.*2843T>A rs559142075 0.00016
NM_139279.6(MCFD2):c.*3014G>A rs886056107 0.00016
NM_145167.3(PIGM):c.120C>T (p.Asp40=) rs375538606 0.00016
NM_181507.2(HPS5):c.*182C>T rs886048074 0.00016
NM_000128.4(F11):c.596-6G>A rs369721182 0.00015
NM_000129.4(F13A1):c.102C>T (p.Gly34=) rs187027323 0.00015
NM_000130.5(F5):c.5723G>A (p.Arg1908Lys) rs191148130 0.00015
NM_000130.5(F5):c.6600T>C (p.Phe2200=) rs142201768 0.00015
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp) rs201721215 0.00015
NM_000132.4(F8):c.3399A>G (p.Gly1133=) rs200042130 0.00015
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000212.3(ITGB3):c.*2081T>G rs577778439 0.00015
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000488.4(SERPINC1):c.910T>C (p.Leu304=) rs150507232 0.00015
NM_000552.5(VWF):c.7730-4C>G rs71581030 0.00015
NM_000602.5(SERPINE1):c.*863C>T rs531982874 0.00015
NM_000821.7(GGCX):c.*4195T>G rs536985458 0.00015
NM_001754.5(RUNX1):c.614-19_614-15del rs763510468 0.00015
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_021870.3(FGG):c.1258A>G (p.Ile420Val) rs374917187 0.00015
NM_022081.6(HPS4):c.1959T>C (p.Asn653=) rs202120615 0.00015
NM_024006.6(VKORC1):c.*245G>A rs886051932 0.00015
NM_024006.6(VKORC1):c.203A>G (p.His68Arg) rs201044348 0.00015
NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=) rs146314458 0.00015
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_000064.4(C3):c.1722G>A (p.Gln574=) rs140143815 0.00014
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941 0.00014
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser) rs139381845 0.00014
NM_000130.5(F5):c.*1237G>A rs979200861 0.00014
NM_000130.5(F5):c.*2053G>C rs886045534 0.00014
NM_000130.5(F5):c.3039G>A (p.Gln1013=) rs769936831 0.00014
NM_000130.5(F5):c.3221A>G (p.Asn1074Ser) rs200269019 0.00014
NM_000130.5(F5):c.3243C>T (p.Asp1081=) rs140281633 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_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809 0.00014
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000301.5(PLG):c.36A>G (p.Leu12=) rs371469289 0.00014
NM_000313.4(PROS1):c.1747A>C (p.Asn583His) rs139479630 0.00014
NM_000361.3(THBD):c.*325T>C rs186669520 0.00014
NM_000361.3(THBD):c.347A>C (p.Asn116Thr) rs773006742 0.00014
NM_000419.5(ITGA2B):c.408+16C>T rs377288289 0.00014
NM_000419.5(ITGA2B):c.457G>A (p.Ala153Thr) rs199641871 0.00014
NM_000505.4(F12):c.1387+4C>G rs761161412 0.00014
NM_000506.5(F2):c.1212C>T (p.Ala404=) rs148544390 0.00014
NM_000506.5(F2):c.559+5G>A rs376151472 0.00014
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.6931C>T (p.Arg2311Cys) rs150725355 0.00014
NM_000552.5(VWF):c.706C>T (p.Arg236Cys) rs140912382 0.00014
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.8160G>A (p.Glu2720=) rs368802960 0.00014
NM_000602.5(SERPINE1):c.*752C>A rs374321581 0.00014
NM_000821.7(GGCX):c.2081G>A (p.Arg694His) rs140098905 0.00014
NM_001375834.1(WIPF1):c.601C>T (p.Arg201Trp) rs770426754 0.00014
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_005141.5(FGB):c.*1687A>G rs992721102 0.00014
NM_005141.5(FGB):c.*1738G>A rs760784701 0.00014
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_032383.5(HPS3):c.694A>G (p.Ile232Val) rs199722122 0.00014
NM_139027.6(ADAMTS13):c.539+7G>A rs184864675 0.00014
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe) rs149512871 0.00014
NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg) rs948696809 0.00014
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser) rs149048805 0.00013
NM_000130.5(F5):c.4145C>A (p.Thr1382Lys) rs775712769 0.00013
NM_000130.5(F5):c.4347G>A (p.Pro1449=) rs145732153 0.00013
NM_000133.4(F9):c.250A>G (p.Thr84Ala) rs201120367 0.00013
NM_000186.4(CFH):c.3607C>T (p.Arg1203Trp) rs145347741 0.00013
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) rs147002633 0.00013
NM_000195.5(HPS1):c.*1005A>G rs186229582 0.00013
NM_000195.5(HPS1):c.*403G>A rs886046589 0.00013
NM_000195.5(HPS1):c.-28G>A rs186783129 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_000419.5(ITGA2B):c.*51C>T rs139513907 0.00013
NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys) rs376752370 0.00013
NM_000821.7(GGCX):c.*470G>A rs746348970 0.00013
NM_000821.7(GGCX):c.2254G>C (p.Asp752His) rs201917261 0.00013
NM_001001548.3(CD36):c.-27C>T rs768286621 0.00013
NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter) rs201657731 0.00013
NM_001001548.3(CD36):c.430-2A>G rs3211901 0.00013
NM_001375834.1(WIPF1):c.717C>T (p.Pro239=) rs573445151 0.00013
NM_001375834.1(WIPF1):c.987C>T (p.Asp329=) rs201234000 0.00013
NM_001754.5(RUNX1):c.*1430C>A rs886057043 0.00013
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003664.5(AP3B1):c.1741A>G (p.Ile581Val) rs751683762 0.00013
NM_005141.5(FGB):c.*363A>G rs545671394 0.00013
NM_005570.4(LMAN1):c.169C>G (p.Leu57Val) rs777224819 0.00013
NM_021871.4(FGA):c.*50T>G rs369606098 0.00013
NM_022081.6(HPS4):c.*1209T>C rs749313648 0.00013
NM_022081.6(HPS4):c.706+8G>C rs3747131 0.00013
NM_024747.6(HPS6):c.2181A>G (p.Ala727=) rs199518658 0.00013
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu) rs779631326 0.00013
NM_172351.3(CD46):c.*1641A>G rs886045843 0.00013
NM_172351.3(CD46):c.*517T>A rs539666226 0.00013
NM_000064.4(C3):c.2861G>A (p.Arg954His) rs139864704 0.00012
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755 0.00012
NM_000130.5(F5):c.*1776A>G rs567224548 0.00012
NM_000133.4(F9):c.768C>T (p.Ile256=) rs758909063 0.00012
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_000313.4(PROS1):c.1377A>G (p.Gly459=) rs371312357 0.00012
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000313.4(PROS1):c.1727A>T (p.Glu576Val) rs528604865 0.00012
NM_000361.3(THBD):c.*47C>T rs551028498 0.00012
NM_000552.5(VWF):c.5533G>A (p.Asp1845Asn) rs201548925 0.00012
NM_000602.5(SERPINE1):c.1088-9C>T rs762527672 0.00012
NM_000821.7(GGCX):c.*1604G>A rs140768153 0.00012
NM_001001548.3(CD36):c.429+15A>G rs371196837 0.00012
NM_001754.5(RUNX1):c.*2532G>A rs886057037 0.00012
NM_001754.5(RUNX1):c.-135G>T rs140075488 0.00012
NM_001754.5(RUNX1):c.508+18A>G rs377681816 0.00012
NM_001754.5(RUNX1):c.967+8A>T rs113054726 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_005141.5(FGB):c.*1105A>G rs542187592 0.00012
NM_005570.4(LMAN1):c.*571T>C rs541441878 0.00012
NM_019616.4(F7):c.*721A>G rs539255438 0.00012
NM_024747.6(HPS6):c.112C>G (p.Pro38Ala) rs746813506 0.00012
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_145167.3(PIGM):c.230C>T (p.Thr77Ile) rs143391350 0.00012
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr) rs147413884 0.00012
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_000064.4(C3):c.1027C>T (p.Arg343Cys) rs772505177 0.00011
NM_000064.4(C3):c.1273C>T (p.Arg425Cys) rs200967589 0.00011
NM_000064.4(C3):c.1480-10G>A rs200390075 0.00011
NM_000064.4(C3):c.2047+7G>A rs770932217 0.00011
NM_000064.4(C3):c.2204G>A (p.Arg735Gln) rs201285239 0.00011
NM_000064.4(C3):c.2991G>A (p.Ala997=) rs150763358 0.00011
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) rs139100972 0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=) rs182399298 0.00011
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_000129.4(F13A1):c.2036A>T (p.Lys679Met) rs201302247 0.00011
NM_000130.5(F5):c.4056C>T (p.Leu1352=) rs549332286 0.00011
NM_000132.4(F8):c.3885C>G (p.Asn1295Lys) rs201393905 0.00011
NM_000132.4(F8):c.3980C>T (p.Thr1327Met) rs200520711 0.00011
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
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_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_000212.3(ITGB3):c.*1292G>T rs779099404 0.00011
NM_000212.3(ITGB3):c.1641C>T (p.Cys547=) rs185135224 0.00011
NM_000312.4(PROC):c.1234G>A (p.Gly412Ser) rs139741458 0.00011
NM_000312.4(PROC):c.927C>T (p.Ala309=) rs200731614 0.00011
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser) rs142805170 0.00011
NM_000361.3(THBD):c.965G>T (p.Arg322Leu) rs146549103 0.00011
NM_000377.3(WAS):c.206G>C (p.Cys69Ser) rs374283590 0.00011
NM_000377.3(WAS):c.266G>A (p.Gly89Asp) rs139857045 0.00011
NM_000377.3(WAS):c.593C>T (p.Ala198Val) rs200261212 0.00011
NM_000419.5(ITGA2B):c.1628G>A (p.Arg543Gln) rs139770734 0.00011
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_000488.4(SERPINC1):c.808C>T (p.Leu270=) rs139275128 0.00011
NM_000504.4(F10):c.1351A>C (p.Ile451Leu) rs369872236 0.00011
NM_000505.4(F12):c.-3G>A rs201346142 0.00011
NM_000506.5(F2):c.*9T>G rs201577861 0.00011
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met) rs183119284 0.00011
NM_000552.5(VWF):c.4748G>A (p.Arg1583Gln) rs538030800 0.00011
NM_000552.5(VWF):c.7770+13C>A rs368470281 0.00011
NM_000552.5(VWF):c.858C>T (p.Thr286=) rs776206258 0.00011
NM_000602.5(SERPINE1):c.*585G>T rs1035342388 0.00011
NM_000602.5(SERPINE1):c.555G>C (p.Arg185=) rs201293550 0.00011
NM_001001548.3(CD36):c.13C>T (p.Arg5Trp) rs752841786 0.00011
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001025356.3(ANO6):c.1387-1G>T rs374664255 0.00011
NM_001375834.1(WIPF1):c.1084A>G (p.Ser362Gly) rs147847123 0.00011
NM_001375834.1(WIPF1):c.694G>A (p.Gly232Arg) rs376855242 0.00011
NM_001754.5(RUNX1):c.*1823A>C rs369678325 0.00011
NM_001754.5(RUNX1):c.*2217dup rs750408603 0.00011
NM_001754.5(RUNX1):c.*3977G>A rs189557277 0.00011
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His) rs80314254 0.00011
NM_001754.5(RUNX1):c.706A>G (p.Met236Val) rs200430800 0.00011
NM_003664.5(AP3B1):c.1650+18dup rs766343354 0.00011
NM_003664.5(AP3B1):c.1650+20C>G rs374194943 0.00011
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_005141.5(FGB):c.200G>C (p.Ser67Thr) rs371842822 0.00011
NM_005141.5(FGB):c.510T>A (p.Asn170Lys) rs149963684 0.00011
NM_005570.4(LMAN1):c.*492T>C rs755899010 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_022081.6(HPS4):c.*2171C>T rs1013987506 0.00011
NM_022081.6(HPS4):c.-479+5G>A rs886057322 0.00011
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys) rs369104384 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_139279.6(MCFD2):c.*418C>G rs1043866618 0.00011
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_000064.4(C3):c.4030-4C>T rs372612816 0.00010
NM_000128.4(F11):c.*902G>A rs555668089 0.00010
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000129.4(F13A1):c.*628G>A rs886061656 0.00010
NM_000129.4(F13A1):c.*927G>A rs746364189 0.00010
NM_000130.5(F5):c.1128G>T (p.Arg376Ser) rs373172802 0.00010
NM_000130.5(F5):c.1374A>G (p.Glu458=) rs150708584 0.00010
NM_000130.5(F5):c.2037C>G (p.Phe679Leu) rs374118662 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.*1731T>C rs782700848 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_000173.7(GP1BA):c.1761A>C (p.Gln587His) rs570515282 0.00010
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_000195.5(HPS1):c.242A>T (p.Tyr81Phe) rs188320187 0.00010
NM_000195.5(HPS1):c.507+15C>T rs374761960 0.00010
NM_000204.5(CFI):c.405T>C (p.Asp135=) rs375792874 0.00010
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000212.3(ITGB3):c.62C>T (p.Ala21Val) rs772418775 0.00010
NM_000212.3(ITGB3):c.985A>G (p.Asn329Asp) rs201550717 0.00010
NM_000301.5(PLG):c.1468C>A (p.Arg490=) rs367707054 0.00010
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370 0.00010
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln) rs368774068 0.00010
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) rs781898144 0.00010
NM_000504.4(F10):c.257-12C>T rs372691873 0.00010
NM_000504.4(F10):c.71-8C>T rs374210821 0.00010
NM_000552.5(VWF):c.250C>T (p.Leu84Phe) rs372664002 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.7393G>A (p.Val2465Met) rs375655409 0.00010
NM_000602.5(SERPINE1):c.*1295C>T rs372017980 0.00010
NM_001001547.3(CD36):c.-208C>T rs886062451 0.00010
NM_001375834.1(WIPF1):c.30G>A (p.Pro10=) rs745425874 0.00010
NM_001754.5(RUNX1):c.*2376G>A rs572680643 0.00010
NM_001754.5(RUNX1):c.*2531C>T rs112662011 0.00010
NM_001754.5(RUNX1):c.*4188G>C rs761390141 0.00010
NM_001754.5(RUNX1):c.1062C>G (p.Thr354=) rs748629722 0.00010
NM_001754.5(RUNX1):c.1252A>G (p.Met418Val) rs578042376 0.00010
NM_001754.5(RUNX1):c.1253T>G (p.Met418Arg) rs202068364 0.00010
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_003664.5(AP3B1):c.*101T>C rs766029582 0.00010
NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_005570.4(LMAN1):c.*1631A>G rs767155286 0.00010
NM_005570.4(LMAN1):c.27C>G (p.Leu9=) rs747955217 0.00010
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) rs143902143 0.00010
NM_024747.6(HPS6):c.727C>A (p.Pro243Thr) rs767667481 0.00010
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) rs781373708 0.00010
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) rs577273287 0.00010
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548 0.00010
NM_139027.6(ADAMTS13):c.3400+23C>T rs200547311 0.00010
NM_139279.6(MCFD2):c.*3293A>C rs763634945 0.00010
NM_181507.2(HPS5):c.-82T>G rs1452519401 0.00010
NM_181507.2(HPS5):c.1012A>C (p.Asn338His) rs144134556 0.00010
NM_000064.4(C3):c.1686G>A (p.Ser562=) rs143750180 0.00009
NM_000064.4(C3):c.216G>A (p.Glu72=) rs375940408 0.00009
NM_000064.4(C3):c.2797-5C>T rs369673832 0.00009
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys) rs373102036 0.00009
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539 0.00009
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256 0.00009
NM_000064.4(C3):c.835G>A (p.Glu279Lys) rs146167974 0.00009
NM_000064.4(C3):c.928G>A (p.Gly310Arg) rs139527231 0.00009
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_000128.4(F11):c.*346A>G rs1033944547 0.00009
NM_000128.4(F11):c.1305-14T>C rs199761451 0.00009
NM_000129.4(F13A1):c.*619C>T rs191569585 0.00009
NM_000129.4(F13A1):c.*934G>A rs921932200 0.00009
NM_000130.5(F5):c.*1432C>T rs886045536 0.00009
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln) rs369516642 0.00009
NM_000132.4(F8):c.1666G>A (p.Val556Ile) rs372867215 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.6696A>G (p.Gln2232=) rs201870876 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=) rs147864267 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000195.5(HPS1):c.*626C>T rs776700327 0.00009
NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln) rs199996900 0.00009
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val) rs528827909 0.00009
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304 0.00009
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys) rs375322422 0.00009
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014 0.00009
NM_000204.5(CFI):c.1410T>C (p.Ser470=) rs200068862 0.00009
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_000204.5(CFI):c.570G>T (p.Glu190Asp) rs200086211 0.00009
NM_000212.3(ITGB3):c.16C>T (p.Arg6Trp) rs752525603 0.00009
NM_000212.3(ITGB3):c.683G>A (p.Arg228His) rs756689153 0.00009
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln) rs147930532 0.00009
NM_000301.5(PLG):c.505C>A (p.Pro169Thr) rs143256245 0.00009
NM_000312.4(PROC):c.*170G>T rs563767423 0.00009
NM_000312.4(PROC):c.714C>T (p.Cys238=) rs141249033 0.00009
NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu) rs369244777 0.00009
NM_000313.4(PROS1):c.684C>T (p.Cys228=) rs377173471 0.00009
NM_000377.3(WAS):c.351C>T (p.Phe117=) rs143299151 0.00009
NM_000377.3(WAS):c.696G>A (p.Lys232=) rs368379103 0.00009
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_000419.5(ITGA2B):c.1366G>A (p.Val456Ile) rs142111372 0.00009
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00009
NM_000504.4(F10):c.142A>C (p.Met48Leu) rs201731360 0.00009
NM_000506.5(F2):c.317-4G>A rs375713715 0.00009
NM_000552.5(VWF):c.6908C>T (p.Thr2303Met) rs149432685 0.00009
NM_000602.5(SERPINE1):c.*1784del rs886061844 0.00009
NM_000602.5(SERPINE1):c.537C>T (p.Ala179=) rs376407844 0.00009
NM_000821.7(GGCX):c.*3393C>T rs868109874 0.00009
NM_000821.7(GGCX):c.*3581C>T rs1019659963 0.00009
NM_000821.7(GGCX):c.*3756A>G rs766023039 0.00009
NM_000821.7(GGCX):c.26G>A (p.Arg9Gln) rs745564526 0.00009
NM_000821.7(GGCX):c.507T>C (p.Phe169=) rs536257863 0.00009
NM_001001548.3(CD36):c.1279G>T (p.Ala427Ser) rs201527696 0.00009
NM_001001548.3(CD36):c.875G>T (p.Arg292Ile) rs200757788 0.00009
NM_001375834.1(WIPF1):c.1129+10G>A rs887452483 0.00009
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) rs141730361 0.00009
NM_001375834.1(WIPF1):c.843G>A (p.Ala281=) rs369696922 0.00009
NM_001375834.1(WIPF1):c.857C>T (p.Pro286Leu) rs779235427 0.00009
NM_001754.5(RUNX1):c.*1788A>G rs529044293 0.00009
NM_001754.5(RUNX1):c.*2329A>G rs529363958 0.00009
NM_001754.5(RUNX1):c.613+18G>C rs374732985 0.00009
NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly) rs780999703 0.00009
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln) rs200351280 0.00009
NM_001994.3(F13B):c.1320A>G (p.Glu440=) rs147383994 0.00009
NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg) rs766616397 0.00009
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_003664.5(AP3B1):c.604-3T>C rs754016521 0.00009
NM_003664.5(AP3B1):c.942+17A>G rs377061172 0.00009
NM_005141.5(FGB):c.*1372T>A rs371670019 0.00009
NM_005570.4(LMAN1):c.*2099C>T rs765984474 0.00009
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_012388.4(BLOC1S6):c.318T>C (p.Ala106=) rs752899247 0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_021870.3(FGG):c.274C>T (p.Leu92Phe) rs142286849 0.00009
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073 0.00009
NM_022081.6(HPS4):c.*469C>T rs959233919 0.00009
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981 0.00009
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 0.00009
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr) rs138834145 0.00009
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly) rs147557809 0.00009
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu) rs140810728 0.00009
NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln) rs139951127 0.00009
NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val) rs370060687 0.00009
NM_139027.6(ADAMTS13):c.3788C>T (p.Thr1263Met) rs375824927 0.00009
NM_172351.3(CD46):c.*1614G>A rs533116649 0.00009
NM_181507.2(HPS5):c.2247A>G (p.Val749=) rs139004989 0.00009
NM_000128.4(F11):c.*952G>A rs886059303 0.00008
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) rs76451285 0.00008
NM_000130.5(F5):c.3257T>C (p.Leu1086Ser) rs116407347 0.00008
NM_000132.4(F8):c.2696G>A (p.Ser899Asn) rs145089334 0.00008
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000195.5(HPS1):c.778C>T (p.Arg260Trp) rs564590745 0.00008
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00008
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000301.5(PLG):c.115A>C (p.Lys39Gln) rs138353396 0.00008
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00008
NM_000312.4(PROC):c.678+10G>A rs776905824 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.503A>G (p.Asn168Ser) rs144430063 0.00008
NM_000313.4(PROS1):c.852T>G (p.Val284=) rs371425622 0.00008
NM_000361.3(THBD):c.1523C>T (p.Pro508Leu) rs201936427 0.00008
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val) rs201042087 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_000504.4(F10):c.7C>T (p.Arg3Cys) rs149972574 0.00008
NM_001754.5(RUNX1):c.*582del rs201200981 0.00008
NM_001754.5(RUNX1):c.1190A>G (p.Gln397Arg) rs762292084 0.00008
NM_001754.5(RUNX1):c.1401G>A (p.Ala467=) rs754338287 0.00008
NM_001754.5(RUNX1):c.492C>T (p.Val164=) rs200907577 0.00008
NM_003664.5(AP3B1):c.1031G>A (p.Arg344His) rs765852823 0.00008
NM_003664.5(AP3B1):c.2424T>C (p.Asp808=) rs144240072 0.00008
NM_003664.5(AP3B1):c.2993-15C>A rs202232687 0.00008
NM_005570.4(LMAN1):c.*319A>G rs1005400095 0.00008
NM_012388.4(BLOC1S6):c.82+6del rs779246428 0.00008
NM_019616.4(F7):c.*541C>T rs1000315742 0.00008
NM_019616.4(F7):c.*991G>A rs3093254 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_019616.4(F7):c.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_019616.4(F7):c.988G>A (p.Ala330Thr) rs3093267 0.00008
NM_021870.3(FGG):c.620A>G (p.Tyr207Cys) rs775086103 0.00008
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
NM_139027.6(ADAMTS13):c.2827C>T (p.Arg943Trp) rs149265456 0.00008
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln) rs200273776 0.00008
NM_145167.3(PIGM):c.238C>G (p.Leu80Val) rs945112516 0.00008
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_172351.3(CD46):c.887C>T (p.Ala296Val) rs753859532 0.00008
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr) rs371346921 0.00008
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser) rs781166596 0.00008
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) rs578116271 0.00007
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp) rs550043629 0.00007
NM_000128.4(F11):c.1200G>A (p.Pro400=) rs150377265 0.00007
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 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_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000195.5(HPS1):c.90C>T (p.Phe30=) rs765362355 0.00007
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) rs769419740 0.00007
NM_000204.5(CFI):c.560G>A (p.Arg187Gln) rs143366614 0.00007
NM_000204.5(CFI):c.60C>T (p.Val20=) rs776132010 0.00007
NM_000204.5(CFI):c.616T>A (p.Tyr206Asn) rs371623439 0.00007
NM_000212.3(ITGB3):c.*1505G>T rs760779885 0.00007
NM_000301.5(PLG):c.669-3C>G rs368764348 0.00007
NM_000312.4(PROC):c.322C>A (p.His108Asn) rs200234655 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_000313.4(PROS1):c.563A>G (p.Asn188Ser) rs146070827 0.00007
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000821.7(GGCX):c.*165A>G rs181695165 0.00007
NM_000821.7(GGCX):c.*2822C>T rs190959810 0.00007
NM_000821.7(GGCX):c.*285G>A rs893789215 0.00007
NM_000821.7(GGCX):c.763G>A (p.Val255Met) rs121909683 0.00007
NM_001001547.3(CD36):c.-209C>T rs539733007 0.00007
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile) rs201754399 0.00007
NM_001710.6(CFB):c.784G>A (p.Val262Ile) rs200645483 0.00007
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) rs748757906 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_003664.5(AP3B1):c.2709A>G (p.Gln903=) rs774631707 0.00007
NM_003664.5(AP3B1):c.2779G>A (p.Gly927Ser) rs746205404 0.00007
NM_005570.4(LMAN1):c.638C>T (p.Thr213Ile) rs144038994 0.00007
NM_019616.4(F7):c.*1503C>T rs551279029 0.00007
NM_019616.4(F7):c.*284C>T rs750831181 0.00007
NM_019616.4(F7):c.*909C>T rs886049999 0.00007
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg) rs201105899 0.00007
NM_022081.6(HPS4):c.*423G>A rs552928725 0.00007
NM_024747.6(HPS6):c.634G>A (p.Val212Met) rs375789510 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_032383.5(HPS3):c.2018C>T (p.Ser673Leu) rs141023798 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr) rs200847393 0.00007
NM_145167.3(PIGM):c.104A>G (p.Tyr35Cys) rs532931742 0.00007
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_000063.6(C2):c.*304A>G rs72842444 0.00006
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300 0.00006
NM_000064.4(C3):c.1098A>G (p.Pro366=) rs757883156 0.00006
NM_000064.4(C3):c.1119+10G>A rs752328639 0.00006
NM_000064.4(C3):c.1988C>G (p.Pro663Arg) rs112187261 0.00006
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr) rs769294331 0.00006
NM_000064.4(C3):c.2441-7C>T rs372528487 0.00006
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500 0.00006
NM_000064.4(C3):c.3018C>T (p.Thr1006=) rs141373588 0.00006
NM_000064.4(C3):c.3858C>T (p.Ala1286=) rs751808949 0.00006
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114 0.00006
NM_000064.4(C3):c.4257G>A (p.Lys1419=) rs768065757 0.00006
NM_000064.4(C3):c.562G>A (p.Val188Ile) rs765821415 0.00006
NM_000064.4(C3):c.763A>G (p.Ile255Val) rs746486431 0.00006
NM_000128.3(F11):c.-183T>C rs886059297 0.00006
NM_000128.4(F11):c.-57G>A rs1043431996 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000128.4(F11):c.1480+4C>T rs370328133 0.00006
NM_000128.4(F11):c.1836C>T (p.Val612=) rs775708833 0.00006
NM_000128.4(F11):c.219-11T>A rs886059298 0.00006
NM_000128.4(F11):c.642C>T (p.Asn214=) rs372572261 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000129.4(F13A1):c.*945T>C rs774737661 0.00006
NM_000129.4(F13A1):c.799-13C>T rs188094485 0.00006
NM_000130.5(F5):c.*1170G>A rs191866237 0.00006
NM_000130.5(F5):c.*149C>G rs534748300 0.00006
NM_000130.5(F5):c.*1715T>G rs763562497 0.00006
NM_000130.5(F5):c.*288T>C rs116921763 0.00006
NM_000130.5(F5):c.*75G>A rs1001647624 0.00006
NM_000130.5(F5):c.*762G>A rs753366128 0.00006
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro) rs369276714 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_000132.4(F8):c.5604A>T (p.Ser1868=) rs782028903 0.00006
NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe) rs368111193 0.00006
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) rs371053403 0.00006
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.2196G>A (p.Thr732=) rs144325643 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000186.4(CFH):c.2767C>T (p.Pro923Ser) rs368846503 0.00006
NM_000186.4(CFH):c.3310+12T>C rs757045842 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.447C>T (p.Phe149=) rs564896584 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000195.5(HPS1):c.760G>A (p.Asp254Asn) rs376078258 0.00006
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) rs1055799878 0.00006
NM_000204.5(CFI):c.129C>T (p.Cys43=) rs146462954 0.00006
NM_000204.5(CFI):c.130G>A (p.Asp44Asn) rs374036714 0.00006
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_000204.5(CFI):c.1533A>G (p.Ala511=) rs369715801 0.00006
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000204.5(CFI):c.325G>A (p.Glu109Lys) rs748098641 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000204.5(CFI):c.859G>A (p.Gly287Arg) rs182078921 0.00006
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000212.3(ITGB3):c.*1817T>A rs776553854 0.00006
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) rs369140365 0.00006
NM_000212.3(ITGB3):c.2085C>T (p.Tyr695=) rs373450805 0.00006
NM_000301.5(PLG):c.1722G>A (p.Pro574=) rs146030266 0.00006
NM_000301.5(PLG):c.646G>A (p.Ala216Thr) rs374234922 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.1323+8T>G rs778473220 0.00006
NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile) rs202190731 0.00006
NM_000313.4(PROS1):c.947G>A (p.Arg316His) rs747259055 0.00006
NM_000361.3(THBD):c.*2129C>A rs372816835 0.00006
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000377.3(WAS):c.1339-3C>T rs373491815 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000377.3(WAS):c.724A>T (p.Ser242Cys) rs782286374 0.00006
NM_000419.5(ITGA2B):c.1157G>A (p.Arg386Gln) rs767338191 0.00006
NM_000419.5(ITGA2B):c.1413C>T (p.Tyr471=) rs78218617 0.00006
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000488.4(SERPINC1):c.719A>G (p.Asn240Ser) rs200861147 0.00006
NM_000504.4(F10):c.1226C>T (p.Thr409Ile) rs775241064 0.00006
NM_000506.5(F2):c.1815T>C (p.His605=) rs368442575 0.00006
NM_000509.5(FGG):c.-130G>T rs749800940 0.00006
NM_000552.5(VWF):c.2968-12T>C rs371677551 0.00006
NM_000552.5(VWF):c.3952G>A (p.Val1318Met) rs372028373 0.00006
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00006
NM_000552.5(VWF):c.4747C>T (p.Arg1583Trp) rs61750116 0.00006
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter) rs62643640 0.00006
NM_000552.5(VWF):c.7800C>T (p.Cys2600=) rs200209213 0.00006
NM_000553.6(WRN):c.3132G>A (p.Thr1044=) rs775952540 0.00006
NM_000553.6(WRN):c.75A>G (p.Arg25=) rs150524008 0.00006
NM_000602.5(SERPINE1):c.*684T>C rs527814575 0.00006
NM_000821.7(GGCX):c.*2811T>C rs118153916 0.00006
NM_000821.7(GGCX):c.*3841T>A rs986672098 0.00006
NM_000821.7(GGCX):c.*4397G>A rs564820085 0.00006
NM_000821.7(GGCX):c.1378G>A (p.Val460Ile) rs149078813 0.00006
NM_000821.7(GGCX):c.990G>C (p.Leu330=) rs374754358 0.00006
NM_001001548.3(CD36):c.*1419+47A>G rs759397538 0.00006
NM_001001548.3(CD36):c.1254+5G>T rs371153088 0.00006
NM_001001548.3(CD36):c.282-14T>A rs754938089 0.00006
NM_001001548.3(CD36):c.318C>T (p.Asp106=) rs146796766 0.00006
NM_001001548.3(CD36):c.846C>T (p.Asp282=) rs749415195 0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001375834.1(WIPF1):c.51G>A (p.Leu17=) rs535169609 0.00006
NM_001375834.1(WIPF1):c.650C>T (p.Pro217Leu) rs11551322 0.00006
NM_001375834.1(WIPF1):c.698G>T (p.Gly233Val) rs372545449 0.00006
NM_001754.5(RUNX1):c.*2366G>A rs886057039 0.00006
NM_001754.5(RUNX1):c.*683G>T rs575769251 0.00006
NM_001754.5(RUNX1):c.552G>T (p.Pro184=) rs752586117 0.00006
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_001754.5(RUNX1):c.917G>A (p.Arg306His) rs139336358 0.00006
NM_001994.3(F13B):c.1670A>G (p.His557Arg) rs759631235 0.00006
NM_001994.3(F13B):c.1815C>T (p.His605=) rs375961962 0.00006
NM_003664.5(AP3B1):c.*507G>A rs865863660 0.00006
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser) rs774098325 0.00006
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn) rs370362655 0.00006
NM_003664.5(AP3B1):c.1651-8T>C rs761881068 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003664.5(AP3B1):c.2025T>C (p.Phe675=) rs370684531 0.00006
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile) rs372847987 0.00006
NM_003664.5(AP3B1):c.2578-12C>T rs532846547 0.00006
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) rs764100439 0.00006
NM_003664.5(AP3B1):c.823G>A (p.Glu275Lys) rs140209190 0.00006
NM_003664.5(AP3B1):c.835G>T (p.Asp279Tyr) rs751922416 0.00006
NM_005141.5(FGB):c.*1444C>A rs886059145 0.00006
NM_005570.4(LMAN1):c.*1988C>T rs886054033 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.64+941C>T rs189409610 0.00006
NM_019616.4(F7):c.822G>A (p.Pro274=) rs566083695 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_019616.4(F7):c.911G>A (p.Arg304Gln) rs146698837 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) rs370873387 0.00006
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_022081.6(HPS4):c.384+1G>A rs201334605 0.00006
NM_024747.6(HPS6):c.1152T>C (p.Phe384=) rs200681093 0.00006
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_024747.6(HPS6):c.277G>T (p.Val93Leu) rs185571437 0.00006
NM_032122.5(DTNBP1):c.355+10A>G rs368923800 0.00006
NM_032383.5(HPS3):c.1224G>A (p.Pro408=) rs752942876 0.00006
NM_032383.5(HPS3):c.159G>T (p.Gln53His) rs774480483 0.00006
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_139027.6(ADAMTS13):c.*41G>A rs369498637 0.00006
NM_139027.6(ADAMTS13):c.1435+11C>T rs377454829 0.00006
NM_139027.6(ADAMTS13):c.1816G>C (p.Ala606Pro) rs281875290 0.00006
NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr) rs782396358 0.00006
NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys) rs139214644 0.00006
NM_139027.6(ADAMTS13):c.3044+10C>T rs375335095 0.00006
NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val) rs587697598 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser) rs886063632 0.00006
NM_139279.6(MCFD2):c.*2121G>A rs187335799 0.00006
NM_139279.6(MCFD2):c.*2983T>C rs1316076292 0.00006
NM_145167.3(PIGM):c.137G>A (p.Arg46Lys) rs759956537 0.00006
NM_172351.3(CD46):c.*968T>A rs768037862 0.00006
NM_172351.3(CD46):c.574G>C (p.Asp192His) rs368371683 0.00006
NM_181507.2(HPS5):c.240C>T (p.Val80=) rs138423875 0.00006
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe) rs142090060 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_000064.4(C3):c.1119+14C>T rs374368486 0.00005
NM_000064.4(C3):c.1470C>T (p.Tyr490=) rs762635358 0.00005
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006 0.00005
NM_000064.4(C3):c.1854C>T (p.Asp618=) rs570503574 0.00005
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000064.4(C3):c.3096G>C (p.Glu1032Asp) rs148698696 0.00005
NM_000064.4(C3):c.3131G>A (p.Gly1044Glu) rs373392964 0.00005
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) rs769873702 0.00005
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn) rs368788004 0.00005
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) rs140928439 0.00005
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_000128.4(F11):c.*576G>A rs886059301 0.00005
NM_000128.4(F11):c.1118T>C (p.Leu373Ser) rs375440170 0.00005
NM_000128.4(F11):c.434A>G (p.His145Arg) rs199657604 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.802C>T (p.Arg268Cys) rs763496524 0.00005
NM_000129.4(F13A1):c.2029A>G (p.Met677Val) rs371964182 0.00005
NM_000129.4(F13A1):c.691-1G>A rs372296352 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.1033C>T (p.Arg345Trp) rs746260106 0.00005
NM_000130.5(F5):c.1300G>A (p.Val434Met) rs574610215 0.00005
NM_000130.5(F5):c.165T>C (p.Asn55=) rs781434840 0.00005
NM_000130.5(F5):c.3801T>C (p.Leu1267=) rs559683767 0.00005
NM_000130.5(F5):c.5262A>T (p.Gly1754=) rs759827034 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.2217G>A (p.Glu739=) rs781850654 0.00005
NM_000132.4(F8):c.2299C>T (p.His767Tyr) rs782115513 0.00005
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg) rs782280813 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000133.4(F9):c.*621G>A rs1278613777 0.00005
NM_000133.4(F9):c.1048T>G (p.Ser350Ala) rs147567879 0.00005
NM_000133.4(F9):c.315C>T (p.Gly105=) rs757434127 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_000186.4(CFH):c.2085T>A (p.Pro695=) rs777482186 0.00005
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000195.5(HPS1):c.1860G>A (p.Gly620=) rs376722018 0.00005
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln) rs538482143 0.00005
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) rs11189601 0.00005
NM_000195.5(HPS1):c.909A>G (p.Pro303=) rs139169204 0.00005
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_000204.5(CFI):c.1150G>A (p.Ala384Thr) rs762315947 0.00005
NM_000204.5(CFI):c.1470A>T (p.Lys490Asn) rs1458122971 0.00005
NM_000204.5(CFI):c.57+4A>G rs757464411 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_000212.3(ITGB3):c.*1527A>G rs561828022 0.00005
NM_000212.3(ITGB3):c.*2030C>A rs886053098 0.00005
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln) rs200358667 0.00005
NM_000212.3(ITGB3):c.356G>A (p.Arg119Gln) rs147782061 0.00005
NM_000312.4(PROC):c.400+6G>T rs527647588 0.00005
NM_000312.4(PROC):c.489G>A (p.Ala163=) rs764364831 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 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.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_000361.3(THBD):c.1406A>G (p.Asp469Gly) rs373741115 0.00005
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) rs782784813 0.00005
NM_000377.3(WAS):c.361-17C>T rs782768055 0.00005
NM_000377.3(WAS):c.490A>C (p.Thr164Pro) rs781918613 0.00005
NM_000377.3(WAS):c.69C>T (p.Pro23=) rs1557006235 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_000419.5(ITGA2B):c.*120T>C rs41385144 0.00005
NM_000419.5(ITGA2B):c.1210+8A>G rs771317292 0.00005
NM_000488.3(SERPINC1):c.-88G>A rs376206880 0.00005
NM_000488.4(SERPINC1):c.1154-5T>C rs375346550 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 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_000504.4(F10):c.1097G>A (p.Arg366His) rs143715673 0.00005
NM_000504.4(F10):c.878C>T (p.Thr293Met) rs752412971 0.00005
NM_000505.4(F12):c.1212C>G (p.Pro404=) rs756802257 0.00005
NM_000506.5(F2):c.978G>A (p.Pro326=) rs142949009 0.00005
NM_000552.5(VWF):c.1205G>A (p.Arg402Lys) rs779082753 0.00005
NM_000552.5(VWF):c.2635G>A (p.Asp879Asn) rs61748485 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.55+15G>A rs201377447 0.00005
NM_000552.5(VWF):c.6433C>T (p.Pro2145Ser) rs61750618 0.00005
NM_000552.5(VWF):c.7450G>A (p.Val2484Ile) rs139864572 0.00005
NM_000602.5(SERPINE1):c.-109G>A rs1051051547 0.00005
NM_000821.7(GGCX):c.*218G>A rs772911409 0.00005
NM_000821.7(GGCX):c.*2892A>C rs146540264 0.00005
NM_000821.7(GGCX):c.1439+15C>T rs758719852 0.00005
NM_000821.7(GGCX):c.1492C>T (p.Arg498Cys) rs372161185 0.00005
NM_001001548.3(CD36):c.1409C>T (p.Thr470Ile) rs200771788 0.00005
NM_001375834.1(WIPF1):c.1177C>T (p.Arg393Trp) rs143156793 0.00005
NM_001375834.1(WIPF1):c.55A>C (p.Asn19His) rs769425496 0.00005
NM_001375834.1(WIPF1):c.56A>G (p.Asn19Ser) rs369103774 0.00005
NM_001710.6(CFB):c.1548G>A (p.Val516=) rs553118090 0.00005
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_001754.5(RUNX1):c.*1078A>G rs983432717 0.00005
NM_001754.5(RUNX1):c.*3944G>A rs751695710 0.00005
NM_001754.5(RUNX1):c.-2C>T rs375033964 0.00005
NM_001754.5(RUNX1):c.18A>G (p.Ile6Met) rs199929612 0.00005
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_001994.3(F13B):c.796G>C (p.Val266Leu) rs533222920 0.00005
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His) rs777268122 0.00005
NM_003664.5(AP3B1):c.603+20G>A rs377222228 0.00005
NM_005141.5(FGB):c.*304G>A rs901759260 0.00005
NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu) rs770116653 0.00005
NM_005570.4(LMAN1):c.539+3A>G rs201868497 0.00005
NM_019616.4(F7):c.*582C>T rs886049993 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_021870.3(FGG):c.709T>C (p.Tyr237His) rs762488338 0.00005
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) rs201043011 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_024747.6(HPS6):c.2231G>T (p.Gly744Val) rs770148492 0.00005
NM_032383.5(HPS3):c.-50C>T rs750659280 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_032383.5(HPS3):c.677A>G (p.His226Arg) rs188661079 0.00005
NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn) rs782518928 0.00005
NM_139027.6(ADAMTS13):c.540-3G>A rs886063631 0.00005
NM_139279.6(MCFD2):c.*1158C>A rs886056113 0.00005
NM_139279.6(MCFD2):c.*2128C>T rs1030805726 0.00005
NM_139279.6(MCFD2):c.*2556C>T rs1009835953 0.00005
NM_139279.6(MCFD2):c.*445A>G rs1160902939 0.00005
NM_172351.3(CD46):c.*1665G>A rs886045845 0.00005
NM_181507.2(HPS5):c.*157G>A rs916119305 0.00005
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys) rs143073506 0.00005
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu) rs373228021 0.00005
NM_000064.4(C3):c.1274G>T (p.Arg425Leu) rs201714568 0.00004
NM_000064.4(C3):c.1508C>T (p.Ala503Val) rs781417846 0.00004
NM_000064.4(C3):c.1717C>T (p.Arg573Trp) rs539270017 0.00004
NM_000064.4(C3):c.2668C>T (p.Pro890Ser) rs531463049 0.00004
NM_000064.4(C3):c.3023C>T (p.Ser1008Leu) rs746172422 0.00004
NM_000064.4(C3):c.3024G>A (p.Ser1008=) rs779366181 0.00004
NM_000064.4(C3):c.305G>A (p.Arg102His) rs554587967 0.00004
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763 0.00004
NM_000064.4(C3):c.3431C>T (p.Thr1144Met) rs150237828 0.00004
NM_000064.4(C3):c.4353C>G (p.Val1451=) rs750821412 0.00004
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809 0.00004
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000064.4(C3):c.944G>A (p.Arg315Gln) rs761503659 0.00004
NM_000128.4(F11):c.*186C>T rs142128633 0.00004
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.345T>C (p.Tyr115=) rs766137229 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.56-6T>C rs374122923 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000128.4(F11):c.803G>A (p.Arg268His) rs201688862 0.00004
NM_000129.4(F13A1):c.*1030G>T rs548323382 0.00004
NM_000129.4(F13A1):c.*796G>A rs56039031 0.00004
NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg) rs121913068 0.00004
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.2032A>G (p.Lys678Glu) rs201292247 0.00004
NM_000130.5(F5):c.2383C>G (p.Gln795Glu) rs374379051 0.00004
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000130.5(F5):c.3446C>T (p.Ser1149Phe) rs559098136 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.*460G>A rs782195878 0.00004
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp) rs199630813 0.00004
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn) rs1279491966 0.00004
NM_000132.4(F8):c.4045A>G (p.Arg1349Gly) rs937701134 0.00004
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys) rs781886601 0.00004
NM_000133.4(F9):c.*10G>C rs186616567 0.00004
NM_000133.4(F9):c.*1122C>A rs907681842 0.00004
NM_000133.4(F9):c.108C>T (p.Asn36=) rs184837275 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000133.4(F9):c.423C>T (p.Cys141=) rs150041781 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_000173.7(GP1BA):c.380G>A (p.Arg127Gln) rs749454966 0.00004
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) rs121913062 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.764G>A (p.Gly255Glu) rs771112278 0.00004
NM_000186.4(CFH):c.769C>T (p.Arg257Cys) rs776887716 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000195.5(HPS1):c.*589G>A rs540367850 0.00004
NM_000195.5(HPS1):c.*691G>A rs1012331153 0.00004
NM_000195.5(HPS1):c.1164C>T (p.Ser388=) rs747305546 0.00004
NM_000195.5(HPS1):c.1341C>G (p.Thr447=) rs990213443 0.00004
NM_000195.5(HPS1):c.1532+14G>A rs761708348 0.00004
NM_000195.5(HPS1):c.1940+9G>A rs757142456 0.00004
NM_000195.5(HPS1):c.1977C>T (p.Thr659=) rs751349303 0.00004
NM_000195.5(HPS1):c.204C>T (p.Thr68=) rs149759513 0.00004
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr) rs367640909 0.00004
NM_000195.5(HPS1):c.9C>T (p.Cys3=) rs750909242 0.00004
NM_000204.5(CFI):c.1268C>A (p.Ala423Glu) rs555832641 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_000204.5(CFI):c.1733T>C (p.Ile578Thr) rs760148430 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000204.5(CFI):c.57+9T>C rs189973137 0.00004
NM_000204.5(CFI):c.603A>C (p.Arg201Ser) rs145769028 0.00004
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) rs751111134 0.00004
NM_000212.3(ITGB3):c.*126G>C rs886053089 0.00004
NM_000212.3(ITGB3):c.*12C>T rs763559573 0.00004
NM_000212.3(ITGB3):c.*1331A>G rs142312068 0.00004
NM_000212.3(ITGB3):c.*699C>T rs886053093 0.00004
NM_000212.3(ITGB3):c.*89G>A rs1252473304 0.00004
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) rs75427428 0.00004
NM_000212.3(ITGB3):c.1232C>T (p.Ser411Phe) rs78121013 0.00004
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000301.5(PLG):c.368C>T (p.Thr123Ile) rs370856655 0.00004
NM_000312.4(PROC):c.1065C>T (p.Asn355=) rs548020208 0.00004
NM_000312.4(PROC):c.112C>T (p.Arg38Trp) rs769900251 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.534A>G (p.Ala178=) rs368367611 0.00004
NM_000312.4(PROC):c.571G>C (p.Glu191Gln) rs777364878 0.00004
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) rs371071104 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_000313.4(PROS1):c.1295G>A (p.Arg432Gln) rs1320598375 0.00004
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile) rs371885410 0.00004
NM_000313.4(PROS1):c.346+5G>A rs865991206 0.00004
NM_000361.3(THBD):c.*1271G>T rs563439109 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_000361.3(THBD):c.376G>T (p.Asp126Tyr) rs768667473 0.00004
NM_000361.3(THBD):c.675C>T (p.Thr225=) rs775568682 0.00004
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.1820C>T (p.Thr607Met) rs539187844 0.00004
NM_000419.5(ITGA2B):c.1958C>T (p.Pro653Leu) rs375936260 0.00004
NM_000419.5(ITGA2B):c.1965A>C (p.Leu655=) rs748671094 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 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.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_000504.4(F10):c.1415C>T (p.Pro472Leu) rs1315933127 0.00004
NM_000505.4(F12):c.129C>T (p.Thr43=) rs201546796 0.00004
NM_000506.5(F2):c.1299-10G>A rs370136934 0.00004
NM_000506.5(F2):c.180C>T (p.Cys60=) rs374353447 0.00004
NM_000506.5(F2):c.285G>A (p.Thr95=) rs147892497 0.00004
NM_000506.5(F2):c.342G>A (p.Thr114=) rs764153743 0.00004
NM_000506.5(F2):c.814G>A (p.Val272Met) rs199558597 0.00004
NM_000506.5(F2):c.992C>T (p.Ser331Leu) rs200812621 0.00004
NM_000552.5(VWF):c.1514G>A (p.Arg505His) rs139830291 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.2878C>T (p.Arg960Trp) rs370984712 0.00004
NM_000552.5(VWF):c.2927G>A (p.Arg976His) rs181452677 0.00004
NM_000552.5(VWF):c.3379+12C>T rs374393996 0.00004
NM_000552.5(VWF):c.3907A>G (p.Met1303Val) rs1029751209 0.00004
NM_000552.5(VWF):c.4103T>C (p.Ile1368Thr) rs199675425 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.5785A>T (p.Asn1929Tyr) rs149799233 0.00004
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu) rs777556669 0.00004
NM_000552.5(VWF):c.6798+13G>A rs201509264 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys) rs369970893 0.00004
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_000602.5(SERPINE1):c.*1296G>A rs903749815 0.00004
NM_000602.5(SERPINE1):c.*294T>G rs534542817 0.00004
NM_000602.5(SERPINE1):c.801G>A (p.Glu267=) rs61749911 0.00004
NM_000821.7(GGCX):c.*3606G>A rs535142816 0.00004
NM_000821.7(GGCX):c.1299G>C (p.Gln433His) rs184476736 0.00004
NM_000821.7(GGCX):c.614G>A (p.Gly205Asp) rs749978184 0.00004
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter) rs121964949 0.00004
NM_001001548.3(CD36):c.-150T>A rs532897983 0.00004
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_001001548.3(CD36):c.625G>C (p.Asp209His) rs150674228 0.00004
NM_001001548.3(CD36):c.728G>A (p.Cys243Tyr) rs35793888 0.00004
NM_001061.7(TBXAS1):c.251G>T (p.Arg84Leu) rs193110720 0.00004
NM_001261826.3(AP3D1):c.2936C>T (p.Pro979Leu) rs776432599 0.00004
NM_001375834.1(WIPF1):c.1295C>T (p.Pro432Leu) rs148300861 0.00004
NM_001375834.1(WIPF1):c.147G>A (p.Thr49=) rs770996629 0.00004
NM_001375834.1(WIPF1):c.1506G>A (p.Pro502=) rs368381822 0.00004
NM_001375834.1(WIPF1):c.211G>A (p.Gly71Ser) rs140541247 0.00004
NM_001375834.1(WIPF1):c.49C>T (p.Leu17=) rs769395136 0.00004
NM_001375834.1(WIPF1):c.827C>G (p.Ser276Cys) rs781658089 0.00004
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) rs201094141 0.00004
NM_001375834.1(WIPF1):c.954G>A (p.Pro318=) rs943312416 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_001710.6(CFB):c.274A>T (p.Thr92Ser) rs369638886 0.00004
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_001754.4(RUNX1):c.97+4T>G rs754042987 0.00004
NM_001754.5(RUNX1):c.*1158C>G rs1197649398 0.00004
NM_001754.5(RUNX1):c.*2320T>G rs886057040 0.00004
NM_001754.5(RUNX1):c.*3229C>T rs886057032 0.00004
NM_001754.5(RUNX1):c.-132G>C rs758735909 0.00004
NM_001754.5(RUNX1):c.1044C>T (p.His348=) rs773671764 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_001754.5(RUNX1):c.36G>A (p.Ser12=) rs201490575 0.00004
NM_001754.5(RUNX1):c.54G>T (p.Met18Ile) rs371736038 0.00004
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys) rs759078185 0.00004
NM_001754.5(RUNX1):c.59-12C>G rs202245096 0.00004
NM_001754.5(RUNX1):c.614-3T>C rs762247645 0.00004
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile) rs757570529 0.00004
NM_001754.5(RUNX1):c.812G>A (p.Arg271Lys) rs750826029 0.00004
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser) rs752288830 0.00004
NM_001987.5(ETV6):c.632G>A (p.Arg211His) rs111871763 0.00004
NM_001994.3(F13B):c.1060T>C (p.Tyr354His) rs376295989 0.00004
NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr) rs1032054339 0.00004
NM_003664.5(AP3B1):c.1821T>C (p.Leu607=) rs768721394 0.00004
NM_003664.5(AP3B1):c.1837+16A>G rs757331102 0.00004
NM_003664.5(AP3B1):c.1838-5A>G rs779897317 0.00004
NM_003664.5(AP3B1):c.1862C>G (p.Thr621Ser) rs796196281 0.00004
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.2132A>T (p.Asp711Val) rs145162631 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_003664.5(AP3B1):c.536+20del rs773391461 0.00004
NM_003664.5(AP3B1):c.648G>A (p.Pro216=) rs773924247 0.00004
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_005141.5(FGB):c.752C>T (p.Thr251Ile) rs776988939 0.00004
NM_005570.4(LMAN1):c.*1168C>T rs770166340 0.00004
NM_005570.4(LMAN1):c.*1565C>T rs140930139 0.00004
NM_005570.4(LMAN1):c.*2541T>C rs907209594 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_005957.5(MTHFR):c.700G>A (p.Asp234Asn) rs45589033 0.00004
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_012388.4(BLOC1S6):c.72G>A (p.Glu24=) rs768535324 0.00004
NM_019616.4(F7):c.*679A>C rs1287125003 0.00004
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_021870.3(FGG):c.19C>T (p.Pro7Ser) rs374845868 0.00004
NM_021871.4(FGA):c.1838A>G (p.His613Arg) rs201686865 0.00004
NM_021871.4(FGA):c.765G>A (p.Pro255=) rs779582722 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 0.00004
NM_022081.6(HPS4):c.*1359A>T rs886057298 0.00004
NM_022081.6(HPS4):c.*1576C>T rs886057297 0.00004
NM_022081.6(HPS4):c.*842G>A rs887874663 0.00004
NM_022081.6(HPS4):c.*946G>A rs1014910744 0.00004
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile) rs202222123 0.00004
NM_022081.6(HPS4):c.570C>T (p.Leu190=) rs201820144 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.680C>T (p.Thr227Met) rs201806802 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_022788.5(P2RY12):c.767G>A (p.Arg256Gln) rs121917885 0.00004
NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly) rs757589760 0.00004
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro) rs752370839 0.00004
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp) rs371986139 0.00004
NM_032383.5(HPS3):c.905C>T (p.Ser302Leu) rs781327575 0.00004
NM_032383.5(HPS3):c.957C>G (p.Pro319=) rs751233801 0.00004
NM_139027.6(ADAMTS13):c.1787-6C>T rs781938740 0.00004
NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met) rs367818172 0.00004
NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys) rs374444423 0.00004
NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=) rs782748173 0.00004
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln) rs587731517 0.00004
NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys) rs141056078 0.00004
NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln) rs782649881 0.00004
NM_139027.6(ADAMTS13):c.3517G>A (p.Val1173Ile) rs587643681 0.00004
NM_139027.6(ADAMTS13):c.539+6C>T rs782661001 0.00004
NM_139279.6(MCFD2):c.*1151G>C rs761404637 0.00004
NM_145167.3(PIGM):c.59G>A (p.Gly20Asp) rs747612971 0.00004
NM_172351.3(CD46):c.*52G>A rs373138507 0.00004
NM_172351.3(CD46):c.-6C>T rs886045836 0.00004
NM_172351.3(CD46):c.245G>A (p.Arg82Gln) rs761000846 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_172351.3(CD46):c.293C>T (p.Thr98Ile) rs116800126 0.00004
NM_172351.3(CD46):c.70A>G (p.Met24Val) rs750342865 0.00004
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp) rs754189788 0.00004
NM_181507.2(HPS5):c.535G>A (p.Val179Ile) rs373277149 0.00004
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306 0.00003
NM_000064.4(C3):c.3702C>T (p.Ser1234=) rs754607975 0.00003
NM_000064.4(C3):c.4029G>A (p.Ser1343=) rs190354796 0.00003
NM_000064.4(C3):c.4177C>T (p.Arg1393Trp) rs148227405 0.00003
NM_000064.4(C3):c.4350+7C>A rs148695501 0.00003
NM_000064.4(C3):c.4457-13C>T rs375382978 0.00003
NM_000064.4(C3):c.4546+18G>A rs377076572 0.00003
NM_000064.4(C3):c.48C>A (p.His16Gln) rs184455094 0.00003
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln) rs139388954 0.00003
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1135+5G>A rs758515608 0.00003
NM_000128.4(F11):c.1327C>T (p.Arg443Cys) rs369435407 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1683C>T (p.Ala561=) rs770473069 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000128.4(F11):c.478G>T (p.Glu160Ter) rs376961859 0.00003
NM_000129.4(F13A1):c.1112+11T>C rs758486753 0.00003
NM_000129.4(F13A1):c.1748-7C>G rs746371632 0.00003
NM_000130.5(F5):c.*1132A>G rs185213313 0.00003
NM_000130.5(F5):c.*1257A>C rs527497923 0.00003
NM_000130.5(F5):c.1034G>A (p.Arg345Gln) rs201078171 0.00003
NM_000130.5(F5):c.2434C>T (p.His812Tyr) rs1310289906 0.00003
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs) rs773569662 0.00003
NM_000130.5(F5):c.5621T>C (p.Met1874Thr) rs377129476 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.*1175G>C rs950453657 0.00003
NM_000132.4(F8):c.*1416G>T rs186338743 0.00003
NM_000132.4(F8):c.*288C>A rs1044626956 0.00003
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000132.4(F8):c.248C>G (p.Pro83Arg) rs781974394 0.00003
NM_000132.4(F8):c.2535C>A (p.Asp845Glu) rs200316756 0.00003
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser) rs781812149 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.5950G>C (p.Val1984Leu) rs782504844 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.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.485G>A (p.Arg162Gln) rs779281053 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_000173.7(GP1BA):c.1183C>T (p.Pro395Ser) rs376266502 0.00003
NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter) rs267606849 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000195.5(HPS1):c.*327G>A rs886046590 0.00003
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097 0.00003
NM_000195.5(HPS1):c.1398-8G>A rs375009475 0.00003
NM_000195.5(HPS1):c.1533-6C>T rs751468611 0.00003
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) rs367656088 0.00003
NM_000195.5(HPS1):c.256-4G>A rs372404024 0.00003
NM_000195.5(HPS1):c.387T>C (p.Leu129=) rs777005528 0.00003
NM_000195.5(HPS1):c.468C>T (p.Tyr156=) rs772192145 0.00003
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162 0.00003
NM_000195.5(HPS1):c.924C>T (p.Gly308=) rs747955942 0.00003
NM_000195.5(HPS1):c.960G>A (p.Gly320=) rs894529827 0.00003
NM_000204.5(CFI):c.1071T>G (p.Ile357Met) rs200881135 0.00003
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000204.5(CFI):c.309C>T (p.Asn103=) rs761425840 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) rs369443204 0.00003
NM_000212.3(ITGB3):c.662C>T (p.Thr221Met) rs770992614 0.00003
NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) rs758633284 0.00003
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) rs374995543 0.00003
NM_000312.4(PROC):c.1318C>T (p.Arg440Cys) rs886054848 0.00003
NM_000312.4(PROC):c.386G>A (p.Arg129His) rs746190838 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.1044G>A (p.Ala348=) rs375245889 0.00003
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser) rs748858986 0.00003
NM_000313.4(PROS1):c.1446C>T (p.Gly482=) rs535201753 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.269G>A (p.Arg90His) rs200886866 0.00003
NM_000313.4(PROS1):c.353C>T (p.Pro118Leu) rs761574063 0.00003
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) rs575777099 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_000361.3(THBD):c.*230T>G rs985689499 0.00003
NM_000361.3(THBD):c.1083G>A (p.Glu361=) rs370377519 0.00003
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe) rs776866172 0.00003
NM_000361.3(THBD):c.1614C>A (p.His538Gln) rs1436540579 0.00003
NM_000361.3(THBD):c.331G>A (p.Val111Ile) rs886056549 0.00003
NM_000361.3(THBD):c.716C>T (p.Ala239Val) rs886056547 0.00003
NM_000377.3(WAS):c.133-18C>T rs782578064 0.00003
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000377.3(WAS):c.463+14A>C rs1338084492 0.00003
NM_000377.3(WAS):c.594G>A (p.Ala198=) rs376545922 0.00003
NM_000377.3(WAS):c.912G>A (p.Arg304=) rs782572275 0.00003
NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) rs769405222 0.00003
NM_000419.5(ITGA2B):c.1739T>C (p.Met580Thr) rs768008625 0.00003
NM_000419.5(ITGA2B):c.1768C>T (p.Arg590Trp) rs373204738 0.00003
NM_000419.5(ITGA2B):c.2471C>G (p.Thr824Ser) rs780567683 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000419.5(ITGA2B):c.43G>A (p.Glu15Lys) rs779592785 0.00003
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg) rs773254902 0.00003
NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=) rs559277597 0.00003
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=) rs183416252 0.00003
NM_000488.4(SERPINC1):c.99C>T (p.His33=) rs147676453 0.00003
NM_000504.3(F10):c.-60G>A rs3212993 0.00003
NM_000504.4(F10):c.348C>T (p.Phe116=) rs747030511 0.00003
NM_000505.4(F12):c.1018+14G>T rs779057710 0.00003
NM_000505.4(F12):c.1704G>A (p.Val568=) rs536390950 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.874+13G>A rs764029414 0.00003
NM_000552.5(VWF):c.1051G>A (p.Val351Met) rs535978867 0.00003
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000552.5(VWF):c.2279G>A (p.Arg760His) rs61748467 0.00003
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 0.00003
NM_000552.5(VWF):c.3720G>A (p.Pro1240=) rs141792415 0.00003
NM_000552.5(VWF):c.3747T>C (p.Asp1249=) rs200893595 0.00003
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln) rs886049741 0.00003
NM_000552.5(VWF):c.604C>T (p.Arg202Trp) rs990682639 0.00003
NM_000552.5(VWF):c.6421G>A (p.Val2141Ile) rs923531708 0.00003
NM_000552.5(VWF):c.646G>A (p.Glu216Lys) rs767837153 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.6976+11C>T rs751395078 0.00003
NM_000552.5(VWF):c.971G>A (p.Arg324Gln) rs61754001 0.00003
NM_000552.5(VWF):c.993C>A (p.Cys331Ter) rs147924974 0.00003
NM_000602.5(SERPINE1):c.*1437C>A rs1328400454 0.00003
NM_000602.5(SERPINE1):c.191C>T (p.Ser64Leu) rs758271488 0.00003
NM_000602.5(SERPINE1):c.649G>A (p.Gly217Ser) rs766181190 0.00003
NM_000821.7(GGCX):c.*2716A>G rs901180216 0.00003
NM_000821.7(GGCX):c.*4215G>A rs886056358 0.00003
NM_000821.7(GGCX):c.*856T>C rs886056374 0.00003
NM_001001548.3(CD36):c.159T>C (p.Asn53=) rs886062452 0.00003
NM_001001548.3(CD36):c.410T>C (p.Val137Ala) rs2272350 0.00003
NM_001001548.3(CD36):c.429+5G>T rs753625642 0.00003
NM_001001548.3(CD36):c.44T>C (p.Ile15Thr) rs778587030 0.00003
NM_001001548.3(CD36):c.590C>T (p.Thr197Ile) rs757827176 0.00003
NM_001001548.3(CD36):c.609+1G>A rs755124649 0.00003
NM_001001548.3(CD36):c.682G>A (p.Asp228Asn) rs774794181 0.00003
NM_001001548.3(CD36):c.819-12C>A rs780361615 0.00003
NM_001261826.3(AP3D1):c.2601+6G>T rs1265838305 0.00003
NM_001261826.3(AP3D1):c.3148G>A (p.Val1050Ile) rs755674952 0.00003
NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp) rs1041727019 0.00003
NM_001375834.1(WIPF1):c.258C>T (p.Gly86=) rs781522403 0.00003
NM_001375834.1(WIPF1):c.33G>A (p.Pro11=) rs775206272 0.00003
NM_001710.6(CFB):c.*16A>T rs749158582 0.00003
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_001710.6(CFB):c.1227A>G (p.Leu409=) rs761050063 0.00003
NM_001710.6(CFB):c.1593T>C (p.Asp531=) rs886061296 0.00003
NM_001710.6(CFB):c.321C>T (p.His107=) rs767428982 0.00003
NM_001754.5(RUNX1):c.*2347C>A rs984388295 0.00003
NM_001754.5(RUNX1):c.*316G>T rs899596480 0.00003
NM_001754.5(RUNX1):c.*3277G>T rs187846118 0.00003
NM_001754.5(RUNX1):c.*3527T>G rs548011352 0.00003
NM_001754.5(RUNX1):c.*4147C>G rs886057029 0.00003
NM_001754.5(RUNX1):c.*68G>T rs886057046 0.00003
NM_001754.5(RUNX1):c.1007T>C (p.Phe336Ser) rs752745196 0.00003
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr) rs922736848 0.00003
NM_001754.5(RUNX1):c.1184C>T (p.Pro395Leu) rs868527382 0.00003
NM_001754.5(RUNX1):c.1257G>A (p.Val419=) rs1172332120 0.00003
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala) rs2056451534 0.00003
NM_001754.5(RUNX1):c.179C>T (p.Ala60Val) rs765314703 0.00003
NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg) rs777168865 0.00003
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_001754.5(RUNX1):c.468A>G (p.Ala156=) rs1163843026 0.00003
NM_001754.5(RUNX1):c.509-12G>A rs200727741 0.00003
NM_001754.5(RUNX1):c.585C>T (p.Ile195=) rs2057541413 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001754.5(RUNX1):c.847C>A (p.Gln283Lys) rs374341207 0.00003
NM_001754.5(RUNX1):c.872T>C (p.Ile291Thr) rs371026644 0.00003
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) rs758682659 0.00003
NM_001754.5(RUNX1):c.984A>G (p.Thr328=) rs377305704 0.00003
NM_001754.5(RUNX1):c.994G>A (p.Asp332Asn) rs757030094 0.00003
NM_001994.3(F13B):c.-30T>A rs767006990 0.00003
NM_001994.3(F13B):c.224C>T (p.Thr75Met) rs915458369 0.00003
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003664.5(AP3B1):c.1095+20G>A rs1003488988 0.00003
NM_003664.5(AP3B1):c.1168-3T>C rs751674819 0.00003
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met) rs556341477 0.00003
NM_003664.5(AP3B1):c.1473+11A>G rs373481590 0.00003
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp) rs758616866 0.00003
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=) rs551799202 0.00003
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181 0.00003
NM_003664.5(AP3B1):c.279+6G>A rs1269853831 0.00003
NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly) rs746992047 0.00003
NM_003664.5(AP3B1):c.2992+10G>A rs375250754 0.00003
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=) rs746152289 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003664.5(AP3B1):c.603+19C>T rs201278348 0.00003
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys) rs748972774 0.00003
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly) rs756321242 0.00003
NM_003664.5(AP3B1):c.877A>G (p.Met293Val) rs538390986 0.00003
NM_005141.5(FGB):c.*1542T>C rs886059146 0.00003
NM_005141.5(FGB):c.*15A>G rs375561591 0.00003
NM_005141.5(FGB):c.*1867T>C rs886059148 0.00003
NM_005141.5(FGB):c.*303C>T rs886059142 0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_005141.5(FGB):c.4A>G (p.Lys2Glu) rs6053 0.00003
NM_005141.5(FGB):c.749A>G (p.Glu250Gly) rs759800033 0.00003
NM_005570.4(LMAN1):c.*1332C>G rs779423308 0.00003
NM_005570.4(LMAN1):c.*2650G>A rs886054030 0.00003
NM_005570.4(LMAN1):c.-5C>T rs765835101 0.00003
NM_005570.4(LMAN1):c.512A>G (p.Asn171Ser) rs778293644 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_012388.4(BLOC1S6):c.130A>G (p.Ile44Val) rs564232908 0.00003
NM_012388.4(BLOC1S6):c.224C>T (p.Thr75Ile) rs768978261 0.00003
NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu) rs759539185 0.00003
NM_019616.4(F7):c.*1054C>A rs546634569 0.00003
NM_019616.4(F7):c.-27C>T rs886049985 0.00003
NM_021870.3(FGG):c.1285G>T (p.Gly429Trp) rs145938787 0.00003
NM_021871.4(FGA):c.1718G>A (p.Arg573His) rs78506343 0.00003
NM_022081.6(HPS4):c.*1594G>C rs886057296 0.00003
NM_022081.6(HPS4):c.*197G>T rs550753111 0.00003
NM_022081.6(HPS4):c.*369C>T rs886057316 0.00003
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu) rs778872709 0.00003
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) rs746492833 0.00003
NM_024006.6(VKORC1):c.173+11G>T rs201515545 0.00003
NM_024747.6(HPS6):c.1181T>C (p.Val394Ala) rs146521433 0.00003
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp) rs781537152 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_024747.6(HPS6):c.2112C>T (p.Leu704=) rs764640708 0.00003
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200 0.00003
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter) rs755841847 0.00003
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_139025.4(ADAMTS13):c.-155C>T rs587712950 0.00003
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471 0.00003
NM_139027.6(ADAMTS13):c.1661C>T (p.Thr554Met) rs782771879 0.00003
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln) rs117943654 0.00003
NM_139027.6(ADAMTS13):c.3400+24G>A rs587709422 0.00003
NM_139027.6(ADAMTS13):c.3400+46G>A rs782472825 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_139027.6(ADAMTS13):c.824+12C>T rs587678724 0.00003
NM_139027.6(ADAMTS13):c.911A>G (p.Tyr304Cys) rs281875285 0.00003
NM_139279.6(MCFD2):c.*311G>A rs886056115 0.00003
NM_139279.6(MCFD2):c.*375T>C rs957621417 0.00003
NM_139279.6(MCFD2):c.106C>G (p.Pro36Ala) rs756021929 0.00003
NM_139279.6(MCFD2):c.416C>T (p.Ala139Val) rs80294301 0.00003
NM_172351.3(CD46):c.*1265T>C rs753496695 0.00003
NM_172351.3(CD46):c.*180T>C rs886045840 0.00003
NM_172351.3(CD46):c.*614T>C rs561506830 0.00003
NM_172351.3(CD46):c.1104C>T (p.Thr368=) rs764242699 0.00003
NM_172351.3(CD46):c.643G>A (p.Val215Met) rs535353049 0.00003
NM_181507.2(HPS5):c.-64A>G rs886048084 0.00003
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu) rs756408229 0.00003
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) rs139349345 0.00003
NM_181507.2(HPS5):c.3059-10G>A rs764418389 0.00003
NM_181507.2(HPS5):c.370C>T (p.Arg124Ter) rs577034676 0.00003
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115 0.00003
NM_000064.4(C3):c.1215C>T (p.Gly405=) rs749682730 0.00002
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179 0.00002
NM_000064.4(C3):c.1479+13C>G rs368352750 0.00002
NM_000064.4(C3):c.1685C>T (p.Ser562Leu) rs200541526 0.00002
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_000064.4(C3):c.2441-16G>T rs201726041 0.00002
NM_000064.4(C3):c.283G>A (p.Glu95Lys) rs746332934 0.00002
NM_000064.4(C3):c.2983G>A (p.Val995Ile) rs759285914 0.00002
NM_000064.4(C3):c.3015G>T (p.Val1005=) rs1340489185 0.00002
NM_000064.4(C3):c.3411C>T (p.Asn1137=) rs753019751 0.00002
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp) rs1178318400 0.00002
NM_000064.4(C3):c.3647-13A>G rs760807491 0.00002
NM_000064.4(C3):c.4484C>T (p.Pro1495Leu) rs368362113 0.00002
NM_000064.4(C3):c.876+4C>T rs779604113 0.00002
NM_000128.4(F11):c.*1033A>G rs886059305 0.00002
NM_000128.4(F11):c.-70G>A rs755606015 0.00002
NM_000128.4(F11):c.1219A>G (p.Thr407Ala) rs369822221 0.00002
NM_000128.4(F11):c.1842C>T (p.Tyr614=) rs143588436 0.00002
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) rs281875276 0.00002
NM_000128.4(F11):c.325+5G>T rs372102736 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000128.4(F11):c.683G>A (p.Arg228Gln) rs281875246 0.00002
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000129.4(F13A1):c.*627G>A rs886061657 0.00002
NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser) rs1178415419 0.00002
NM_000129.4(F13A1):c.980G>A (p.Arg327Gln) rs121913072 0.00002
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 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.3702C>T (p.Asp1234=) rs368295218 0.00002
NM_000130.5(F5):c.4632G>T (p.Val1544=) rs780992775 0.00002
NM_000130.5(F5):c.5729C>T (p.Pro1910Leu) rs200805004 0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000132.4(F8):c.*1362A>T rs1032816312 0.00002
NM_000132.4(F8):c.*915G>A rs1259930797 0.00002
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.1093T>C (p.Tyr365His) rs782216863 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.3981G>A (p.Thr1327=) rs374245599 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 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.601+1632G>A rs387906429 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000133.4(F9):c.*523A>G rs921041074 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.130C>T (p.Pro44Ser) rs776894974 0.00002
NM_000133.4(F9):c.163T>A (p.Phe55Ile) rs759987427 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.724-4A>G rs755261990 0.00002
NM_000133.4(F9):c.774T>C (p.Asn258=) rs752173947 0.00002
NM_000133.4(F9):c.844C>T (p.His282Tyr) rs763399530 0.00002
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000186.4(CFH):c.1654G>C (p.Val552Leu) rs372365885 0.00002
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) rs749875053 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser) rs755928805 0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) rs772553879 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000186.4(CFH):c.2427A>G (p.Gln809=) rs758809077 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) rs186711438 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile) rs779670935 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000195.5(HPS1):c.*577C>T rs1455446444 0.00002
NM_000195.5(HPS1):c.1050G>T (p.Arg350Ser) rs748998125 0.00002
NM_000195.5(HPS1):c.1667C>T (p.Ala556Val) rs200239872 0.00002
NM_000195.5(HPS1):c.1700C>T (p.Ser567Leu) rs375906039 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) rs760508807 0.00002
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000195.5(HPS1):c.303C>T (p.Ser101=) rs769932435 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080 0.00002
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) rs979661361 0.00002
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 0.00002
NM_000204.5(CFI):c.1234G>A (p.Val412Met) rs371432629 0.00002
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.1429G>C (p.Asp477His) rs754972981 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000204.5(CFI):c.530A>T (p.Asn177Ile) rs753060374 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 0.00002
NM_000204.5(CFI):c.773-3C>T rs375483832 0.00002
NM_000212.3(ITGB3):c.*1932C>G rs886053097 0.00002
NM_000212.3(ITGB3):c.*439C>G rs886053090 0.00002
NM_000212.3(ITGB3):c.*739C>T rs756487158 0.00002
NM_000212.3(ITGB3):c.*758C>G rs886053094 0.00002
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000301.5(PLG):c.17T>C (p.Val6Ala) rs764121149 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.1066C>T (p.Arg356Cys) rs776173921 0.00002
NM_000312.4(PROC):c.1077C>G (p.Val359=) rs766061833 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.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.638T>C (p.Ile213Thr) rs753097748 0.00002
NM_000312.4(PROC):c.810G>C (p.Leu270=) rs371007615 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.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000313.4(PROS1):c.1483A>G (p.Ile495Val) rs745470312 0.00002
NM_000313.4(PROS1):c.149A>C (p.Lys50Thr) rs745579260 0.00002
NM_000313.4(PROS1):c.1629C>T (p.Thr543=) rs773166529 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 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.903C>T (p.Tyr301=) rs760392622 0.00002
NM_000361.3(THBD):c.*1104A>C rs926288174 0.00002
NM_000361.3(THBD):c.*1239G>A rs549574979 0.00002
NM_000361.3(THBD):c.1029A>G (p.Thr343=) rs79349426 0.00002
NM_000361.3(THBD):c.1528G>A (p.Val510Met) rs555537779 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.543G>A (p.Glu181=) rs542108654 0.00002
NM_000377.3(WAS):c.1049C>T (p.Ala350Val) rs1307143057 0.00002
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln) rs1286831963 0.00002
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys) rs1257775061 0.00002
NM_000377.3(WAS):c.1218C>T (p.Ser406=) rs370053372 0.00002
NM_000377.3(WAS):c.1245C>T (p.Leu415=) rs1557007301 0.00002
NM_000377.3(WAS):c.1253C>T (p.Ala418Val) rs781903491 0.00002
NM_000377.3(WAS):c.1266C>T (p.Ala422=) rs782041815 0.00002
NM_000377.3(WAS):c.1476C>T (p.Gly492=) rs1161895393 0.00002
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn) rs781790075 0.00002
NM_000377.3(WAS):c.16A>G (p.Met6Val) rs782730988 0.00002
NM_000377.3(WAS):c.249C>T (p.Tyr83=) rs368151220 0.00002
NM_000377.3(WAS):c.273+15C>T rs1286865928 0.00002
NM_000377.3(WAS):c.274-4C>T rs782527416 0.00002
NM_000377.3(WAS):c.390C>T (p.Asp130=) rs782593697 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.575C>T (p.Pro192Leu) rs782745511 0.00002
NM_000377.3(WAS):c.679C>T (p.Arg227Cys) rs1395882218 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000377.3(WAS):c.999G>A (p.Gly333=) rs369654974 0.00002
NM_000419.5(ITGA2B):c.1769G>A (p.Arg590Gln) rs747930676 0.00002
NM_000419.5(ITGA2B):c.1879-14A>G rs1186417459 0.00002
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000419.5(ITGA2B):c.574+10A>G rs771984157 0.00002
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_000419.5(ITGA2B):c.690A>C (p.Pro230=) rs776840984 0.00002
NM_000488.4(SERPINC1):c.201C>T (p.Gly67=) rs773751914 0.00002
NM_000488.4(SERPINC1):c.219G>A (p.Pro73=) rs746429528 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.261C>T (p.Tyr87=) rs201347110 0.00002
NM_000506.5(F2):c.882C>T (p.Ala294=) rs370819135 0.00002
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000552.5(VWF):c.4944del (p.Ile1649fs) rs61750591 0.00002
NM_000552.5(VWF):c.7240G>A (p.Ala2414Thr) rs754853953 0.00002
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_000552.5(VWF):c.874+2T>C rs1944829900 0.00002
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000821.7(GGCX):c.*2774A>G rs140009094 0.00002
NM_000821.7(GGCX):c.*4720G>A rs1484208583 0.00002
NM_000821.7(GGCX):c.1224C>A (p.His408Gln) rs763288483 0.00002
NM_000821.7(GGCX):c.1249G>A (p.Asp417Asn) rs370517365 0.00002
NM_000821.7(GGCX):c.1815C>G (p.Asn605Lys) rs1375142657 0.00002
NM_000821.7(GGCX):c.57A>T (p.Lys19Asn) rs367575308 0.00002
NM_001001548.3(CD36):c.1045G>C (p.Ala349Pro) rs370701210 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001001548.3(CD36):c.491A>G (p.Lys164Arg) rs201801344 0.00002
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln) rs145467227 0.00002
NM_001375834.1(WIPF1):c.1505C>T (p.Pro502Leu) rs770286102 0.00002
NM_001375834.1(WIPF1):c.232G>A (p.Gly78Ser) rs759985968 0.00002
NM_001375834.1(WIPF1):c.235G>A (p.Gly79Arg) rs531744802 0.00002
NM_001375834.1(WIPF1):c.26C>T (p.Pro9Leu) rs766473130 0.00002
NM_001375834.1(WIPF1):c.358+13T>C rs752308068 0.00002
NM_001375834.1(WIPF1):c.39G>A (p.Pro13=) rs143623121 0.00002
NM_001375834.1(WIPF1):c.509C>G (p.Pro170Arg) rs560424291 0.00002
NM_001375834.1(WIPF1):c.595C>T (p.His199Tyr) rs776631046 0.00002
NM_001375834.1(WIPF1):c.768C>T (p.Pro256=) rs775538363 0.00002
NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser) rs1430804372 0.00002
NM_001710.6(CFB):c.1290C>T (p.Val430=) rs201619743 0.00002
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002
NM_001754.5(RUNX1):c.*2822C>T rs867689771 0.00002
NM_001754.5(RUNX1):c.-59-5C>T rs556553023 0.00002
NM_001754.5(RUNX1):c.-59-9G>A rs1250615209 0.00002
NM_001754.5(RUNX1):c.1119G>C (p.Ser373=) rs766678402 0.00002
NM_001754.5(RUNX1):c.1275G>A (p.Pro425=) rs886038488 0.00002
NM_001754.5(RUNX1):c.1407C>T (p.Ser469=) rs1001293281 0.00002
NM_001754.5(RUNX1):c.1415T>C (p.Leu472Pro) rs764689239 0.00002
NM_001754.5(RUNX1):c.1416G>A (p.Leu472=) rs199733903 0.00002
NM_001754.5(RUNX1):c.220G>C (p.Gly74Arg) rs1435268371 0.00002
NM_001754.5(RUNX1):c.336G>T (p.Leu112=) rs977880516 0.00002
NM_001754.5(RUNX1):c.351+10C>T rs776306850 0.00002
NM_001754.5(RUNX1):c.351+6G>T rs544853243 0.00002
NM_001754.5(RUNX1):c.414A>T (p.Glu138Asp) rs771823558 0.00002
NM_001754.5(RUNX1):c.444C>T (p.Thr148=) rs773689002 0.00002
NM_001754.5(RUNX1):c.508+12G>A rs777848069 0.00002
NM_001754.5(RUNX1):c.59-10G>T rs1569090482 0.00002
NM_001754.5(RUNX1):c.614-12T>G rs1260942095 0.00002
NM_001754.5(RUNX1):c.614-6C>T rs529667191 0.00002
NM_001754.5(RUNX1):c.630A>G (p.Leu210=) rs367978995 0.00002
NM_001754.5(RUNX1):c.65T>A (p.Ile22Lys) rs749430925 0.00002
NM_001754.5(RUNX1):c.666C>T (p.Ser222=) rs747906151 0.00002
NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys) rs878854468 0.00002
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro) rs1408720761 0.00002
NM_001754.5(RUNX1):c.748C>T (p.Arg250Cys) rs1296210151 0.00002
NM_001754.5(RUNX1):c.843C>T (p.Tyr281=) rs377142186 0.00002
NM_001754.5(RUNX1):c.938T>G (p.Leu313Arg) rs766264813 0.00002
NM_001754.5(RUNX1):c.96C>T (p.His32=) rs748758482 0.00002
NM_001754.5(RUNX1):c.98-17G>A rs1190196552 0.00002
NM_001754.5(RUNX1):c.985G>A (p.Ala329Thr) rs1415582429 0.00002
NM_001754.5(RUNX1):c.998C>G (p.Pro333Arg) rs200104203 0.00002
NM_001987.5(ETV6):c.116G>A (p.Arg39Gln) rs144209028 0.00002
NM_001994.3(F13B):c.1098C>T (p.Ser366=) rs771474972 0.00002
NM_001994.3(F13B):c.1942C>T (p.Pro648Ser) rs759996311 0.00002
NM_001994.3(F13B):c.805+1G>A rs550859190 0.00002
NM_001994.3(F13B):c.877C>T (p.Arg293Cys) rs780257236 0.00002
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) rs781409951 0.00002
NM_003664.5(AP3B1):c.1050G>A (p.Gln350=) rs760881363 0.00002
NM_003664.5(AP3B1):c.1167+15A>G rs368393559 0.00002
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=) rs574476271 0.00002
NM_003664.5(AP3B1):c.1331A>G (p.Asn444Ser) rs758805835 0.00002
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_003664.5(AP3B1):c.1651-5A>G rs1356238571 0.00002
NM_003664.5(AP3B1):c.1722A>C (p.Thr574=) rs754956851 0.00002
NM_003664.5(AP3B1):c.1927G>A (p.Ala643Thr) rs775296594 0.00002
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln) rs150651515 0.00002
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val) rs768736531 0.00002
NM_003664.5(AP3B1):c.2287A>G (p.Lys763Glu) rs151082743 0.00002
NM_003664.5(AP3B1):c.2577T>C (p.Ser859=) rs755754414 0.00002
NM_003664.5(AP3B1):c.2700C>T (p.Val900=) rs756834284 0.00002
NM_003664.5(AP3B1):c.2895-19T>A rs779085657 0.00002
NM_003664.5(AP3B1):c.375+18T>A rs775724254 0.00002
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_003664.5(AP3B1):c.942+6T>C rs759015208 0.00002
NM_003664.5(AP3B1):c.943-9A>T rs776758618 0.00002
NM_005141.5(FGB):c.*464C>T rs940820346 0.00002
NM_005141.5(FGB):c.*526C>T rs933339992 0.00002
NM_005141.5(FGB):c.251A>C (p.Lys84Thr) rs886059141 0.00002
NM_005570.4(LMAN1):c.*1970T>G rs886054034 0.00002
NM_005570.4(LMAN1):c.1434G>A (p.Thr478=) rs748522800 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser) rs200204287 0.00002
NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=) rs761132701 0.00002
NM_012388.4(BLOC1S6):c.391A>G (p.Lys131Glu) rs1339131805 0.00002
NM_019616.4(F7):c.*985G>A rs1368575987 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_019616.4(F7):c.400G>A (p.Gly134Ser) rs563972504 0.00002
NM_019616.4(F7):c.568C>T (p.Arg190Ter) rs756151764 0.00002
NM_019616.4(F7):c.929C>T (p.Thr310Met) rs200212201 0.00002
NM_019616.4(F7):c.940G>A (p.Val314Met) rs374305125 0.00002
NM_021870.3(FGG):c.309T>C (p.Asn103=) rs138916334 0.00002
NM_021870.3(FGG):c.683T>C (p.Val228Ala) rs757702704 0.00002
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala) rs199571440 0.00002
NM_021871.4(FGA):c.450G>A (p.Gln150=) rs368446857 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_021871.4(FGA):c.8C>T (p.Ser3Phe) rs771156473 0.00002
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992 0.00002
NM_022081.6(HPS4):c.*1256C>T rs886057299 0.00002
NM_022081.6(HPS4):c.*1691G>A rs1405392401 0.00002
NM_022081.6(HPS4):c.*228A>C rs182700538 0.00002
NM_022081.6(HPS4):c.1455G>A (p.Thr485=) rs756215705 0.00002
NM_022081.6(HPS4):c.1641C>T (p.Cys547=) rs199740072 0.00002
NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser) rs149568178 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr) rs549798245 0.00002
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) rs886057317 0.00002
NM_024006.6(VKORC1):c.-2T>C rs745707367 0.00002
NM_024006.6(VKORC1):c.379G>A (p.Val127Met) rs777707816 0.00002
NM_024747.6(HPS6):c.1417G>A (p.Val473Met) rs542540023 0.00002
NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter) rs373272174 0.00002
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys) rs749139864 0.00002
NM_024747.6(HPS6):c.2045G>A (p.Arg682His) rs778873202 0.00002
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364 0.00002
NM_032383.5(HPS3):c.1125G>A (p.Gln375=) rs367816094 0.00002
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836 0.00002
NM_032383.5(HPS3):c.1342T>C (p.Leu448=) rs778753554 0.00002
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509 0.00002
NM_032383.5(HPS3):c.1509+5T>C rs200117898 0.00002
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) rs776346762 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) rs761310586 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) rs752837159 0.00002
NM_032383.5(HPS3):c.701G>A (p.Arg234Gln) rs748904322 0.00002
NM_032383.5(HPS3):c.864C>T (p.His288=) rs146928432 0.00002
NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=) rs782239711 0.00002
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) rs201457594 0.00002
NM_139027.6(ADAMTS13):c.15C>T (p.His5=) rs77985067 0.00002
NM_139027.6(ADAMTS13):c.1706-3T>A rs781888317 0.00002
NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) rs121908475 0.00002
NM_139027.6(ADAMTS13):c.3044+8A>C rs886063636 0.00002
NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys) rs121908469 0.00002
NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln) rs781885530 0.00002
NM_139027.6(ADAMTS13):c.3554T>C (p.Met1185Thr) rs1057522240 0.00002
NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile) rs369026148 0.00002
NM_139027.6(ADAMTS13):c.581G>T (p.Gly194Val) rs1554785242 0.00002
NM_139027.6(ADAMTS13):c.715G>A (p.Gly239Ser) rs1554785883 0.00002
NM_139279.6(MCFD2):c.*1289T>C rs527427772 0.00002
NM_139279.6(MCFD2):c.*1354G>T rs886056112 0.00002
NM_139279.6(MCFD2):c.*2169G>A rs79487300 0.00002
NM_139279.6(MCFD2):c.*428G>A rs781195000 0.00002
NM_139279.6(MCFD2):c.*640C>T rs534106665 0.00002
NM_139279.6(MCFD2):c.*991G>A rs1259504368 0.00002
NM_145167.3(PIGM):c.292C>A (p.Leu98Ile) rs758854084 0.00002
NM_172351.3(CD46):c.*1211C>T rs1248620643 0.00002
NM_172351.3(CD46):c.*672A>T rs1430844015 0.00002
NM_172351.3(CD46):c.-127A>G rs1023894625 0.00002
NM_172351.3(CD46):c.535G>C (p.Glu179Gln) rs779174212 0.00002
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) rs202071781 0.00002
NM_172351.3(CD46):c.72G>A (p.Met24Ile) rs765047596 0.00002
NM_181507.2(HPS5):c.1076G>A (p.Arg359His) rs774619545 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu) rs747733616 0.00002
NM_181507.2(HPS5):c.2718-12A>G rs759757206 0.00002
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00002
NM_181507.2(HPS5):c.86G>A (p.Arg29Gln) rs192059865 0.00002
NC_000004.12:g.186265841G>A rs1004061199 0.00001
NC_000013.11:g.113105748C>G rs1263426144 0.00001
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224 0.00001
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564 0.00001
NM_000064.4(C3):c.1047G>C (p.Val349=) rs747191565 0.00001
NM_000064.4(C3):c.1296G>A (p.Ser432=) rs760150621 0.00001
NM_000064.4(C3):c.1433G>T (p.Arg478Leu) rs747968673 0.00001
NM_000064.4(C3):c.1491G>A (p.Lys497=) rs768360920 0.00001
NM_000064.4(C3):c.1678G>A (p.Val560Met) rs1015875450 0.00001
NM_000064.4(C3):c.1702G>A (p.Gly568Ser) rs749836289 0.00001
NM_000064.4(C3):c.1767C>T (p.His589=) rs775843240 0.00001
NM_000064.4(C3):c.1792G>A (p.Val598Met) rs1023851263 0.00001
NM_000064.4(C3):c.1887G>A (p.Pro629=) rs747150559 0.00001
NM_000064.4(C3):c.1999G>A (p.Ala667Thr) rs199535288 0.00001
NM_000064.4(C3):c.2118G>A (p.Ser706=) rs755973774 0.00001
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654 0.00001
NM_000064.4(C3):c.2441-6G>A rs752216964 0.00001
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653 0.00001
NM_000064.4(C3):c.2543G>A (p.Arg848Gln) rs756642830 0.00001
NM_000064.4(C3):c.2583+13G>A rs774609150 0.00001
NM_000064.4(C3):c.2583+9C>T rs372400121 0.00001
NM_000064.4(C3):c.2642G>A (p.Arg881His) rs1443451793 0.00001
NM_000064.4(C3):c.2646C>T (p.His882=) rs377316231 0.00001
NM_000064.4(C3):c.2793C>T (p.Val931=) rs781226831 0.00001
NM_000064.4(C3):c.28C>A (p.Leu10Met) rs756577495 0.00001
NM_000064.4(C3):c.322G>A (p.Val108Met) rs747923416 0.00001
NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys) rs531259592 0.00001
NM_000064.4(C3):c.3400C>T (p.Arg1134Trp) rs138900723 0.00001
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) rs777904423 0.00001
NM_000064.4(C3):c.3489+18T>C rs747517809 0.00001
NM_000064.4(C3):c.3546C>T (p.Asn1182=) rs189353964 0.00001
NM_000064.4(C3):c.3593A>G (p.Gln1198Arg) rs372976419 0.00001
NM_000064.4(C3):c.3754G>A (p.Val1252Ile) rs537300095 0.00001
NM_000064.4(C3):c.3757G>A (p.Val1253Met) rs769164285 0.00001
NM_000064.4(C3):c.3970-15C>G rs1233140401 0.00001
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310 0.00001
NM_000064.4(C3):c.4121-4C>T rs747452882 0.00001
NM_000064.4(C3):c.4155C>T (p.Ile1385=) rs563352895 0.00001
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) rs191489530 0.00001
NM_000064.4(C3):c.443G>A (p.Arg148Gln) rs886054657 0.00001
NM_000064.4(C3):c.452C>G (p.Thr151Ser) rs1968082456 0.00001
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) rs1408701335 0.00001
NM_000064.4(C3):c.4631-6C>T rs775109096 0.00001
NM_000064.4(C3):c.4665C>G (p.Ser1555=) rs542668902 0.00001
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605 0.00001
NM_000064.4(C3):c.4850+12C>A rs748416799 0.00001
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209 0.00001
NM_000064.4(C3):c.683-3C>A rs1293161211 0.00001
NM_000064.4(C3):c.899T>C (p.Val300Ala) rs756370451 0.00001
NM_000064.4(C3):c.911G>A (p.Arg304Gln) rs866279562 0.00001
NM_000064.4(C3):c.976G>A (p.Val326Met) rs375264020 0.00001
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_000128.3(F11):c.-326C>G rs753031984 0.00001
NM_000128.4(F11):c.*448A>G rs368132203 0.00001
NM_000128.4(F11):c.*763T>A rs576164426 0.00001
NM_000128.4(F11):c.*817A>G rs1441037997 0.00001
NM_000128.4(F11):c.*846T>C rs988525367 0.00001
NM_000128.4(F11):c.1026G>T (p.Gly342=) rs768894507 0.00001
NM_000128.4(F11):c.1060G>A (p.Gly354Arg) rs777714867 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1136-7_1136-4del rs1439195599 0.00001
NM_000128.4(F11):c.1178C>T (p.Ala393Val) rs547842083 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1199C>T (p.Pro400Leu) rs533335580 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1275G>C (p.Trp425Cys) rs533626812 0.00001
NM_000128.4(F11):c.1378T>G (p.Phe460Val) rs121965065 0.00001
NM_000128.4(F11):c.1416T>C (p.Tyr472=) rs1053472547 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1481-9T>A rs372283197 0.00001
NM_000128.4(F11):c.1517A>G (p.Asp506Gly) rs281875258 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1608G>C (p.Lys536Asn) rs774280710 0.00001
NM_000128.4(F11):c.1627G>A (p.Glu543Lys) rs142952627 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.1718G>A (p.Gly573Glu) rs754109115 0.00001
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.188C>T (p.Ala63Val) rs281875244 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.326-1G>A rs1057517364 0.00001
NM_000128.4(F11):c.359T>C (p.Met120Thr) rs767727775 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.4(F11):c.408C>A (p.Cys136Ter) rs143648758 0.00001
NM_000128.4(F11):c.484C>T (p.Arg162Cys) rs748139184 0.00001
NM_000128.4(F11):c.499C>T (p.Leu167=) rs374761594 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.616C>T (p.Pro206Ser) rs779123395 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.680G>A (p.Gly227Asp) rs1489595409 0.00001
NM_000128.4(F11):c.728C>T (p.Ser243Phe) rs1262002209 0.00001
NM_000128.4(F11):c.730C>T (p.Gln244Ter) rs747702749 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000128.4(F11):c.865+1G>C rs1349655563 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000129.4(F13A1):c.*606T>C rs148907610 0.00001
NM_000129.4(F13A1):c.-28G>A rs886061662 0.00001
NM_000129.4(F13A1):c.1687G>A (p.Gly563Arg) rs121913069 0.00001
NM_000129.4(F13A1):c.2045G>A (p.Arg682His) rs121913064 0.00001
NM_000129.4(F13A1):c.2067C>T (p.Thr689=) rs750971578 0.00001
NM_000129.4(F13A1):c.889G>A (p.Val297Ile) rs199564311 0.00001
NM_000129.4(F13A1):c.949G>T (p.Val317Phe) rs121913073 0.00001
NM_000130.5(F5):c.*1043T>A rs991084730 0.00001
NM_000130.5(F5):c.*1613A>G rs939304311 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.1569T>A (p.Leu523=) rs1398320157 0.00001
NM_000130.5(F5):c.1600C>T (p.Arg534Ter) rs770011773 0.00001
NM_000130.5(F5):c.1659G>A (p.Glu553=) rs370739570 0.00001
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000130.5(F5):c.1973T>C (p.Val658Ala) rs760114041 0.00001
NM_000130.5(F5):c.2321G>C (p.Gly774Ala) rs547915978 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.3481C>T (p.Arg1161Ter) rs118203909 0.00001
NM_000130.5(F5):c.3810C>G (p.Ala1270=) rs781657137 0.00001
NM_000130.5(F5):c.3939C>T (p.Ser1313=) rs1445744008 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000130.5(F5):c.4158A>C (p.Pro1386=) rs772368983 0.00001
NM_000130.5(F5):c.417C>T (p.Asp139=) rs749722664 0.00001
NM_000130.5(F5):c.5000C>T (p.Pro1667Leu) rs200157005 0.00001
NM_000130.5(F5):c.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys) rs118203907 0.00001
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln) rs886045544 0.00001
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) rs201790842 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.5976G>A (p.Glu1992=) rs915397925 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.6304C>T (p.Arg2102Cys) rs118203910 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.6606T>A (p.Arg2202=) rs368496361 0.00001
NM_000130.5(F5):c.6644G>A (p.Arg2215His) rs952196842 0.00001
NM_000130.5(F5):c.910G>A (p.Gly304Arg) rs747353298 0.00001
NM_000130.5(F5):c.936C>T (p.Thr312=) rs758832130 0.00001
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_000132.4(F8):c.*975A>G rs892955433 0.00001
NM_000132.4(F8):c.-157A>G rs1057515826 0.00001
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1173C>T (p.Arg391=) rs1411642179 0.00001
NM_000132.4(F8):c.1231G>A (p.Asp411Asn) rs1324147584 0.00001
NM_000132.4(F8):c.1316G>T (p.Gly439Val) rs1362305882 0.00001
NM_000132.4(F8):c.144-13T>G rs782248521 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.1587A>G (p.Lys529=) rs1369480074 0.00001
NM_000132.4(F8):c.1648C>T (p.Arg550Cys) rs137852417 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.2243A>G (p.Tyr748Cys) rs1160871723 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.4411A>G (p.Met1471Val) rs782058716 0.00001
NM_000132.4(F8):c.456C>G (p.Ser152Arg) rs781912033 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5012G>A (p.Arg1671His) rs782166477 0.00001
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu) rs782235155 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys) rs137852443 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.5976G>A (p.Met1992Ile) rs782510443 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6323C>T (p.Ala2108Val) rs782094982 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro) rs782548763 0.00001
NM_000132.4(F8):c.6849C>T (p.Ser2283=) rs1319284046 0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His) rs1047644991 0.00001
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser) rs137852374 0.00001
NM_000132.4(F8):c.6957G>A (p.Pro2319=) rs200902529 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.940A>G (p.Thr314Ala) rs137852406 0.00001
NM_000132.4(F8):c.978A>G (p.Leu326=) rs782374508 0.00001
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
NM_000133.4(F9):c.*1283C>G rs1295265700 0.00001
NM_000133.4(F9):c.*197G>A rs1057515798 0.00001
NM_000133.4(F9):c.-35G>A rs1166164399 0.00001
NM_000133.4(F9):c.1026G>A (p.Thr342=) rs954954812 0.00001
NM_000133.4(F9):c.1031T>C (p.Ile344Thr) rs387906482 0.00001
NM_000133.4(F9):c.106A>G (p.Asn36Asp) rs1169714103 0.00001
NM_000133.4(F9):c.1074A>G (p.Arg358=) rs751992311 0.00001
NM_000133.4(F9):c.109G>A (p.Ala37Thr) rs367569299 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.116A>G (p.Lys39Arg) rs200505648 0.00001
NM_000133.4(F9):c.1170C>T (p.Ile390=) rs1436679699 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.1210A>G (p.Arg404Gly) rs1390673858 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.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.192T>C (p.Cys64=) rs1261374056 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.273T>C (p.Tyr91=) rs142980421 0.00001
NM_000133.4(F9):c.31T>A (p.Ser11Thr) rs387906480 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.392-7C>A rs757272947 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.516A>T (p.Pro172=) rs1462862045 0.00001
NM_000133.4(F9):c.520+9C>A rs1453342028 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.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_000173.7(GP1BA):c.586C>T (p.Gln196Ter) rs371226354 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_000186.4(CFH):c.*14G>A rs463726 0.00001
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1114A>G (p.Ile372Val) rs1370184894 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.1532T>G (p.Ile511Ser) rs1420895923 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.1745G>A (p.Arg582His) rs138890387 0.00001
NM_000186.4(CFH):c.1864A>G (p.Ile622Val) rs990484984 0.00001
NM_000186.4(CFH):c.1934C>T (p.Thr645Met) rs749232210 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) rs374704701 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg) rs886045746 0.00001
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu) rs1408179720 0.00001
NM_000186.4(CFH):c.2784C>A (p.Gly928=) rs755926856 0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) rs149938052 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu) rs1408795010 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter) rs121913060 0.00001
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp) rs761877050 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000186.4(CFH):c.65A>G (p.Asn22Ser) rs767494411 0.00001
NM_000186.4(CFH):c.727T>C (p.Tyr243His) rs748692496 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000186.4(CFH):c.879G>A (p.Gln293=) rs769615121 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000195.5(HPS1):c.*1235G>A rs886046584 0.00001
NM_000195.5(HPS1):c.*451C>G rs1185107542 0.00001
NM_000195.5(HPS1):c.*635T>C rs886046588 0.00001
NM_000195.5(HPS1):c.*639G>T rs1025107350 0.00001
NM_000195.5(HPS1):c.*968G>A rs972778777 0.00001
NM_000195.5(HPS1):c.-219C>G rs574471533 0.00001
NM_000195.5(HPS1):c.1123T>C (p.Trp375Arg) rs541655491 0.00001
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.1285C>T (p.Arg429Cys) rs770233681 0.00001
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu) rs756067445 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1337G>A (p.Ser446Asn) rs1377296947 0.00001
NM_000195.5(HPS1):c.1383C>T (p.Pro461=) rs763241171 0.00001
NM_000195.5(HPS1):c.1398-9C>T rs773047618 0.00001
NM_000195.5(HPS1):c.1431G>A (p.Gln477=) rs747509165 0.00001
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp) rs755120094 0.00001
NM_000195.5(HPS1):c.1532+13C>T rs202086569 0.00001
NM_000195.5(HPS1):c.1533-16G>A rs763995634 0.00001
NM_000195.5(HPS1):c.1545G>A (p.Thr515=) rs141596696 0.00001
NM_000195.5(HPS1):c.1598+11G>A rs538837544 0.00001
NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys) rs747984964 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) rs139951191 0.00001
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) rs764612179 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.1884G>A (p.Val628=) rs752892771 0.00001
NM_000195.5(HPS1):c.1940+2T>C rs972096803 0.00001
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys) rs121908385 0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) rs773611107 0.00001
NM_000195.5(HPS1):c.2058G>C (p.Gln686His) rs780183454 0.00001
NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys) rs118116760 0.00001
NM_000195.5(HPS1):c.2087G>A (p.Arg696His) rs759163020 0.00001
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322 0.00001
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) rs770719820 0.00001
NM_000195.5(HPS1):c.329A>T (p.Tyr110Phe) rs749883025 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.399-5C>T rs765780669 0.00001
NM_000195.5(HPS1):c.419C>T (p.Ala140Val) rs1243685743 0.00001
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) rs727505003 0.00001
NM_000195.5(HPS1):c.498C>T (p.Phe166=) rs375340317 0.00001
NM_000195.5(HPS1):c.507+14G>A rs367821874 0.00001
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077 0.00001
NM_000195.5(HPS1):c.570C>T (p.His190=) rs1028581867 0.00001
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404 0.00001
NM_000195.5(HPS1):c.741C>T (p.Ser247=) rs772319786 0.00001
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) rs745797275 0.00001
NM_000195.5(HPS1):c.788G>A (p.Arg263Gln) rs1452163199 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_000195.5(HPS1):c.819C>T (p.Ala273=) rs775779922 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 0.00001
NM_000195.5(HPS1):c.973A>G (p.Met325Val) rs1406192587 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) rs773085612 0.00001
NM_000204.5(CFI):c.1025G>A (p.Gly342Glu) rs1312234258 0.00001
NM_000204.5(CFI):c.1112G>T (p.Gly371Val) rs763931500 0.00001
NM_000204.5(CFI):c.1133C>T (p.Ala378Val) rs759023625 0.00001
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) rs1292929833 0.00001
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1315G>A (p.Gly439Arg) rs568632297 0.00001
NM_000204.5(CFI):c.1399T>C (p.Cys467Arg) rs1724402529 0.00001
NM_000204.5(CFI):c.1429+5A>G rs771786368 0.00001
NM_000204.5(CFI):c.1479C>A (p.Ser493Arg) rs780759494 0.00001
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn) rs121964918 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.1661A>T (p.Glu554Val) rs754572081 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_000204.5(CFI):c.377T>C (p.Ile126Thr) rs778891732 0.00001
NM_000204.5(CFI):c.424A>C (p.Lys142Gln) rs762431670 0.00001
NM_000204.5(CFI):c.439A>G (p.Met147Val) rs760787282 0.00001
NM_000204.5(CFI):c.452A>G (p.Asn151Ser) rs772044176 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) rs377528991 0.00001
NM_000204.5(CFI):c.781G>A (p.Gly261Ser) rs547901965 0.00001
NM_000204.5(CFI):c.848A>G (p.Asp283Gly) rs756201106 0.00001
NM_000212.3(ITGB3):c.*1585A>C rs917780047 0.00001
NM_000212.3(ITGB3):c.*2263T>C rs1291399916 0.00001
NM_000212.3(ITGB3):c.1089C>T (p.Ser363=) rs748864401 0.00001
NM_000212.3(ITGB3):c.1157G>A (p.Arg386His) rs1231109822 0.00001
NM_000212.3(ITGB3):c.1260+11C>T rs752250845 0.00001
NM_000212.3(ITGB3):c.1260G>A (p.Thr420=) rs74458693 0.00001
NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter) rs1458116788 0.00001
NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile) rs750612657 0.00001
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg) rs1397448267 0.00001
NM_000212.3(ITGB3):c.1605C>T (p.His535=) rs757985563 0.00001
NM_000212.3(ITGB3):c.175C>G (p.Leu59Val) rs2065090622 0.00001
NM_000212.3(ITGB3):c.1791del (p.Asn597fs) rs780710721 0.00001
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) rs781502355 0.00001
NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) rs1181336139 0.00001
NM_000212.3(ITGB3):c.19C>T (p.Pro7Ser) rs995924582 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser) rs766423016 0.00001
NM_000212.3(ITGB3):c.2315T>C (p.Leu772Pro) rs1228960294 0.00001
NM_000212.3(ITGB3):c.2356C>T (p.Arg786Trp) rs1377491769 0.00001
NM_000212.3(ITGB3):c.261C>G (p.Ala87=) rs747991001 0.00001
NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) rs1399113954 0.00001
NM_000212.3(ITGB3):c.273G>A (p.Glu91=) rs776079585 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000212.3(ITGB3):c.353T>A (p.Leu118His) rs368325996 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.414G>C (p.Val138=) rs146957831 0.00001
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) rs77963874 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000212.3(ITGB3):c.777+1G>A rs745766760 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000212.3(ITGB3):c.79+1G>A rs2064977538 0.00001
NM_000212.3(ITGB3):c.836A>T (p.Lys279Met) rs79775494 0.00001
NM_000212.3(ITGB3):c.856G>A (p.Gly286Arg) rs1199275720 0.00001
NM_000212.3(ITGB3):c.889G>A (p.Gly297Arg) rs756088530 0.00001
NM_000212.3(ITGB3):c.917A>C (p.His306Pro) rs13306476 0.00001
NM_000301.5(PLG):c.1120G>T (p.Val374Phe) rs121918028 0.00001
NM_000301.5(PLG):c.2085C>A (p.Asp695Glu) rs1394466422 0.00001
NM_000301.5(PLG):c.2251G>A (p.Gly751Arg) rs121918033 0.00001
NM_000301.5(PLG):c.2263A>G (p.Ser755Gly) rs1778416234 0.00001
NM_000301.5(PLG):c.86A>C (p.Gln29Pro) rs1051644668 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 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.1019C>T (p.Thr340Met) rs766261022 0.00001
NM_000312.4(PROC):c.1043G>A (p.Arg348Gln) rs201827066 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.1122C>T (p.Ser374=) rs187228759 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.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000312.4(PROC):c.1218G>A (p.Met406Ile) rs780456728 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.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.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.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.400+5G>C rs199469478 0.00001
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) rs1257816310 0.00001
NM_000312.4(PROC):c.433G>A (p.Gly145Ser) rs370813536 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.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.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.660G>A (p.Arg220=) rs1688487502 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.715G>A (p.Gly239Arg) rs777486993 0.00001
NM_000312.4(PROC):c.735C>G (p.Pro245=) rs775976369 0.00001
NM_000312.4(PROC):c.759C>A (p.His253Gln) rs1458669732 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 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.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_000313.3(PROS1):c.-167G>T rs983179502 0.00001
NM_000313.4(PROS1):c.*385A>G rs1576170245 0.00001
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000313.4(PROS1):c.1156-8A>C rs773586094 0.00001
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr) rs753603433 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.1502C>G (p.Ser501Cys) rs1263937066 0.00001
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala) rs371028997 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.1752G>A (p.Leu584=) rs772250170 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 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.1996T>C (p.Cys666Arg) rs1302089144 0.00001
NM_000313.4(PROS1):c.204C>G (p.Ala68=) rs1060504812 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.470A>G (p.Asp157Gly) rs751090951 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.946C>T (p.Arg316Cys) rs373983977 0.00001
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp) rs536077692 0.00001
NM_000361.3(THBD):c.*1315C>T rs886056541 0.00001
NM_000361.3(THBD):c.*1505C>G rs1439185320 0.00001
NM_000361.3(THBD):c.*1689C>T rs886056540 0.00001
NM_000361.3(THBD):c.*169G>A rs543317002 0.00001
NM_000361.3(THBD):c.*509C>T rs1189083158 0.00001
NM_000361.3(THBD):c.-38G>A rs750724405 0.00001
NM_000361.3(THBD):c.1062C>G (p.Asn354Lys) rs375147630 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.1499C>T (p.Thr500Met) rs753344243 0.00001
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn) rs572623850 0.00001
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser) rs775671453 0.00001
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg) rs138861385 0.00001
NM_000361.3(THBD):c.158A>G (p.Asp53Gly) rs121918667 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.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.72G>A (p.Gln24=) rs1185401752 0.00001
NM_000361.3(THBD):c.763G>C (p.Ala255Pro) rs1276712753 0.00001
NM_000361.3(THBD):c.77G>C (p.Gly26Ala) rs757422951 0.00001
NM_000361.3(THBD):c.920C>T (p.Ser307Leu) rs372556297 0.00001
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) rs1557007203 0.00001
NM_000377.3(WAS):c.1130G>A (p.Arg377His) rs868995772 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu) rs1557007283 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.1255C>A (p.Leu419Met) rs1422863482 0.00001
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe) rs782605668 0.00001
NM_000377.3(WAS):c.1303T>C (p.Leu435=) rs1557007338 0.00001
NM_000377.3(WAS):c.1338+8C>T rs782158640 0.00001
NM_000377.3(WAS):c.1339-4G>A rs782436940 0.00001
NM_000377.3(WAS):c.1407C>T (p.Ala469=) rs782264561 0.00001
NM_000377.3(WAS):c.1416C>T (p.His472=) rs377442612 0.00001
NM_000377.3(WAS):c.1425G>A (p.Gln475=) rs1351097717 0.00001
NM_000377.3(WAS):c.1479T>C (p.Asp493=) rs782452466 0.00001
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) rs141605347 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000377.3(WAS):c.327C>G (p.Thr109=) rs1288545461 0.00001
NM_000377.3(WAS):c.360+8A>G rs1557006508 0.00001
NM_000377.3(WAS):c.411C>T (p.Phe137=) rs1474269671 0.00001
NM_000377.3(WAS):c.458G>T (p.Ser153Ile) rs1557006588 0.00001
NM_000377.3(WAS):c.459T>G (p.Ser153Arg) rs1557006590 0.00001
NM_000377.3(WAS):c.505+3_505+7dup rs1557006628 0.00001
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NM_000377.3(WAS):c.74C>T (p.Thr25Ile) rs374574436 0.00001
NM_000377.3(WAS):c.844A>G (p.Thr282Ala) rs1557007029 0.00001
NM_000377.3(WAS):c.849C>T (p.Asp283=) rs1557007034 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.926G>A (p.Arg309His) rs1557007058 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.954G>A (p.Pro318=) rs1366022019 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000377.3(WAS):c.982C>T (p.Arg328Trp) rs1395979315 0.00001
NM_000377.3(WAS):c.985C>G (p.Pro329Ala) rs1557007136 0.00001
NM_000377.3(WAS):c.989C>T (p.Pro330Leu) rs1178247738 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_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) rs137852910 0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) rs75622274 0.00001
NM_000419.5(ITGA2B):c.1217C>T (p.Ala406Val) rs1204070474 0.00001
NM_000419.5(ITGA2B):c.1229C>G (p.Pro410Arg) rs773649547 0.00001
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) rs2048591163 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000419.5(ITGA2B):c.1537G>A (p.Val513Met) rs112836157 0.00001
NM_000419.5(ITGA2B):c.1606A>C (p.Asn536His) rs779647771 0.00001
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp) rs1261397461 0.00001
NM_000419.5(ITGA2B):c.1752+2T>C rs769156315 0.00001
NM_000419.5(ITGA2B):c.1752+5G>A rs530915748 0.00001
NM_000419.5(ITGA2B):c.1753-3T>A rs746932044 0.00001
NM_000419.5(ITGA2B):c.1762G>C (p.Asp588His) rs773196676 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.188+7C>T rs774338537 0.00001
NM_000419.5(ITGA2B):c.1888G>A (p.Val630Ile) rs1271568680 0.00001
NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs) rs75028796 0.00001
NM_000419.5(ITGA2B):c.1946+1G>A rs746091910 0.00001
NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) rs77961246 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2417G>A (p.Ser806Asn) rs1189791675 0.00001
NM_000419.5(ITGA2B):c.2728-15G>T rs540296465 0.00001
NM_000419.5(ITGA2B):c.2728-19T>C rs1350341374 0.00001
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) rs79657230 0.00001
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) rs78657866 0.00001
NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp) rs757116551 0.00001
NM_000419.5(ITGA2B):c.408G>C (p.Val136=) rs1400938437 0.00001
NM_000419.5(ITGA2B):c.409-1G>A rs1393747638 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000419.5(ITGA2B):c.527C>A (p.Pro176His) rs148327798 0.00001
NM_000419.5(ITGA2B):c.574+1G>A rs1291613591 0.00001
NM_000419.5(ITGA2B):c.624+5G>A rs373730428 0.00001
NM_000419.5(ITGA2B):c.625-7C>T rs747504493 0.00001
NM_000419.5(ITGA2B):c.917dup (p.Arg307fs) rs78321762 0.00001
NM_000419.5(ITGA2B):c.945+9C>A rs776521459 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.1119C>T (p.Val373=) rs1271197978 0.00001
NM_000488.4(SERPINC1):c.1218+7A>G rs899914657 0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568 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.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser) rs376029223 0.00001
NM_000488.4(SERPINC1):c.192G>A (p.Glu64=) rs1462236331 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.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.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.598G>C (p.Ala200Pro) rs483352853 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.685C>T (p.Arg229Ter) rs1657743081 0.00001
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr) rs749510661 0.00001
NM_000488.4(SERPINC1):c.756C>T (p.Tyr252=) rs745970800 0.00001
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys) rs758087836 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.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_000504.4(F10):c.1012G>A (p.Val338Met) rs121964947 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_000504.4(F10):c.1215C>T (p.Ala405=) rs770904651 0.00001
NM_000504.4(F10):c.140A>G (p.Glu47Gly) rs121964943 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000504.4(F10):c.261C>T (p.Gly87=) rs763365831 0.00001
NM_000504.4(F10):c.318G>C (p.Gly106=) rs567909277 0.00001
NM_000504.4(F10):c.400G>A (p.Gly134Arg) rs368225671 0.00001
NM_000504.4(F10):c.535C>T (p.Arg179Cys) rs1277295882 0.00001
NM_000504.4(F10):c.80G>A (p.Arg27His) rs1263735827 0.00001
NM_000505.4(F12):c.*86C>T rs777897437 0.00001
NM_000505.4(F12):c.*9G>A rs1763150862 0.00001
NM_000505.4(F12):c.1251-12C>A rs747726864 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) rs770412757 0.00001
NM_000505.4(F12):c.30G>A (p.Leu10=) rs745617919 0.00001
NM_000505.4(F12):c.630C>T (p.Asp210=) rs886060471 0.00001
NM_000505.4(F12):c.928A>T (p.Arg310Trp) rs749549919 0.00001
NM_000506.3(F2):c.1054G>A (p.Glu352Lys) rs121918484 0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) rs121918478 0.00001
NM_000506.5(F2):c.1037C>T (p.Ser346Leu) rs552341778 0.00001
NM_000506.5(F2):c.1083C>T (p.Asp361=) rs367827038 0.00001
NM_000506.5(F2):c.1814_1815del (p.His605fs) rs776618390 0.00001
NM_000506.5(F2):c.201C>T (p.Tyr67=) rs776998025 0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 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_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606 0.00001
NM_000508.3(FGA):c.92G>T (p.Gly31Val) rs121909605 0.00001
NM_000508.5(FGA):c.2527T>C (p.Trp843Arg) rs1280924091 0.00001
NM_000552.5(VWF):c.1001G>A (p.Gly334Glu) rs932134873 0.00001
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1239dup (p.Leu414fs) rs770203987 0.00001
NM_000552.5(VWF):c.1497G>C (p.Gln499His) rs774725519 0.00001
NM_000552.5(VWF):c.1534-3C>A rs61754009 0.00001
NM_000552.5(VWF):c.1679A>G (p.Gln560Arg) rs754526458 0.00001
NM_000552.5(VWF):c.1730-5C>T rs569984866 0.00001
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs) rs61748465 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2289G>A (p.Arg763=) rs886049743 0.00001
NM_000552.5(VWF):c.2303G>A (p.Arg768Gln) rs772203447 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.2442+4A>G rs777608246 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser) rs765163545 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.311_312del (p.Gln104fs) rs1481396407 0.00001
NM_000552.5(VWF):c.3251G>A (p.Cys1084Tyr) rs759805079 0.00001
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.338A>G (p.Tyr113Cys) rs374854636 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3539-15A>G rs748934603 0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys) rs373787920 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4277G>A (p.Arg1426His) rs761308466 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4360G>A (p.Val1454Ile) rs533417176 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_000552.5(VWF):c.4399C>T (p.Pro1467Ser) rs61750091 0.00001
NM_000552.5(VWF):c.4492G>A (p.Asp1498Asn) rs1009808532 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000552.5(VWF):c.5170+3G>A rs550242545 0.00001
NM_000552.5(VWF):c.5192C>T (p.Ser1731Leu) rs764077750 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5369C>T (p.Pro1790Leu) rs551649729 0.00001
NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser) rs61750608 0.00001
NM_000552.5(VWF):c.5493C>T (p.Tyr1831=) rs769268109 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.5620+10A>G rs886049740 0.00001
NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg) rs746837624 0.00001
NM_000552.5(VWF):c.5765G>A (p.Gly1922Glu) rs1048674696 0.00001
NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter) rs1359172781 0.00001
NM_000552.5(VWF):c.6043G>A (p.Glu2015Lys) rs775806908 0.00001
NM_000552.5(VWF):c.6196A>G (p.Asn2066Asp) rs886049738 0.00001
NM_000552.5(VWF):c.6311C>T (p.Thr2104Ile) rs61750616 0.00001
NM_000552.5(VWF):c.6572T>C (p.Val2191Ala) rs753731128 0.00001
NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg) rs1943750562 0.00001
NM_000552.5(VWF):c.7056C>T (p.Gly2352=) rs746482504 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.7437G>A (p.Ser2479=) rs267607363 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.7729+8A>G rs775123891 0.00001
NM_000552.5(VWF):c.8155+8C>T rs886049735 0.00001
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr) rs61751305 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000602.5(SERPINE1):c.*1668G>C rs886061843 0.00001
NM_000602.5(SERPINE1):c.*236C>T rs1333856024 0.00001
NM_000602.5(SERPINE1):c.*456G>C rs1334787082 0.00001
NM_000602.5(SERPINE1):c.*478A>C rs540551187 0.00001
NM_000602.5(SERPINE1):c.*533C>T rs1026075364 0.00001
NM_000602.5(SERPINE1):c.*859C>T rs886061837 0.00001
NM_000602.5(SERPINE1):c.1088-11T>C rs1356412166 0.00001
NM_000602.5(SERPINE1):c.719A>G (p.Asp240Gly) rs745829911 0.00001
NM_000602.5(SERPINE1):c.989C>T (p.Thr330Met) rs192692662 0.00001
NM_000821.7(GGCX):c.*199A>C rs1455293219 0.00001
NM_000821.7(GGCX):c.*2226C>T rs1002400857 0.00001
NM_000821.7(GGCX):c.*25T>C rs765806745 0.00001
NM_000821.7(GGCX):c.*2647T>C rs886056365 0.00001
NM_000821.7(GGCX):c.*2740A>C rs1184420625 0.00001
NM_000821.7(GGCX):c.*3177T>G rs1324933410 0.00001
NM_000821.7(GGCX):c.*3517T>C rs886056364 0.00001
NM_000821.7(GGCX):c.*3924A>G rs886056359 0.00001
NM_000821.7(GGCX):c.*4078G>A rs866533240 0.00001
NM_000821.7(GGCX):c.*4314T>C rs530247310 0.00001
NM_000821.7(GGCX):c.*4681G>A rs949866556 0.00001
NM_000821.7(GGCX):c.*4744C>T rs886056356 0.00001
NM_000821.7(GGCX):c.*4798G>A rs953351844 0.00001
NM_000821.7(GGCX):c.*703C>T rs867939864 0.00001
NM_000821.7(GGCX):c.-53C>T rs886056381 0.00001
NM_000821.7(GGCX):c.1155+12C>A rs1284965933 0.00001
NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) rs121909675 0.00001
NM_000821.7(GGCX):c.1455T>C (p.Arg485=) rs1416935549 0.00001
NM_000821.7(GGCX):c.269G>A (p.Arg90Gln) rs753656195 0.00001
NM_000821.7(GGCX):c.654G>A (p.Lys218=) rs774751096 0.00001
NM_000821.7(GGCX):c.903C>T (p.Tyr301=) rs751710756 0.00001
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu) rs186254196 0.00001
NM_001001547.3(CD36):c.-206A>C rs1792285972 0.00001
NM_001001547.3(CD36):c.-286C>A rs886062450 0.00001
NM_001001547.3(CD36):c.-297G>A rs886062449 0.00001
NM_001001548.3(CD36):c.1126-15T>C rs758766716 0.00001
NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter) rs775478465 0.00001
NM_001001548.3(CD36):c.281G>A (p.Arg94Lys) rs1796118367 0.00001
NM_001001548.3(CD36):c.355G>T (p.Gly119Cys) rs1250857302 0.00001
NM_001001548.3(CD36):c.456A>G (p.Gln152=) rs543785881 0.00001
NM_001001548.3(CD36):c.610-2A>G rs745604189 0.00001
NM_001001548.3(CD36):c.695G>T (p.Gly232Val) rs535150936 0.00001
NM_001001548.3(CD36):c.819-8G>A rs769908351 0.00001
NM_001001548.3(CD36):c.853C>T (p.Leu285=) rs780267115 0.00001
NM_001098671.2(RASGRP2):c.1717C>T (p.Arg573Cys) rs770760594 0.00001
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter) rs121918131 0.00001
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=) rs767889885 0.00001
NM_001261826.3(AP3D1):c.349C>T (p.Arg117Cys) rs754787367 0.00001
NM_001375834.1(WIPF1):c.100A>G (p.Asn34Asp) rs373043385 0.00001
NM_001375834.1(WIPF1):c.1050G>T (p.Ser350=) rs1451167601 0.00001
NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser) rs771227574 0.00001
NM_001375834.1(WIPF1):c.1092A>G (p.Arg364=) rs199706736 0.00001
NM_001375834.1(WIPF1):c.10C>G (p.Pro4Ala) rs756471924 0.00001
NM_001375834.1(WIPF1):c.1122C>T (p.Gly374=) rs1033892508 0.00001
NM_001375834.1(WIPF1):c.1130-18T>C rs1307224263 0.00001
NM_001375834.1(WIPF1):c.1170C>T (p.Ser390=) rs1205840828 0.00001
NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His) rs142991283 0.00001
NM_001375834.1(WIPF1):c.1233G>T (p.Arg411Ser) rs367686097 0.00001
NM_001375834.1(WIPF1):c.1314A>G (p.Arg438=) rs1463501006 0.00001
NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu) rs1481250623 0.00001
NM_001375834.1(WIPF1):c.1374G>A (p.Pro458=) rs757711719 0.00001
NM_001375834.1(WIPF1):c.1412C>T (p.Thr471Met) rs752911584 0.00001
NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln) rs776761827 0.00001
NM_001375834.1(WIPF1):c.1468C>T (p.Arg490Ter) rs764306764 0.00001
NM_001375834.1(WIPF1):c.1481G>A (p.Gly494Asp) rs1423414500 0.00001
NM_001375834.1(WIPF1):c.1497T>A (p.Pro499=) rs749710168 0.00001
NM_001375834.1(WIPF1):c.150C>T (p.Val50=) rs766364703 0.00001
NM_001375834.1(WIPF1):c.207C>T (p.Gly69=) rs138616786 0.00001
NM_001375834.1(WIPF1):c.231C>T (p.Gly77=) rs772302114 0.00001
NM_001375834.1(WIPF1):c.244G>A (p.Gly82Arg) rs770105478 0.00001
NM_001375834.1(WIPF1):c.327G>A (p.Pro109=) rs748281934 0.00001
NM_001375834.1(WIPF1):c.38C>T (p.Pro13Leu) rs770545171 0.00001
NM_001375834.1(WIPF1):c.393G>A (p.Pro131=) rs138492962 0.00001
NM_001375834.1(WIPF1):c.409T>C (p.Ser137Pro) rs779896543 0.00001
NM_001375834.1(WIPF1):c.413C>T (p.Ala138Val) rs1684901977 0.00001
NM_001375834.1(WIPF1):c.419C>T (p.Pro140Leu) rs765784451 0.00001
NM_001375834.1(WIPF1):c.430C>A (p.Pro144Thr) rs144275492 0.00001
NM_001375834.1(WIPF1):c.519G>A (p.Arg173=) rs757656746 0.00001
NM_001375834.1(WIPF1):c.543T>C (p.Asp181=) rs1298136683 0.00001
NM_001375834.1(WIPF1):c.579C>T (p.Pro193=) rs1352948196 0.00001
NM_001375834.1(WIPF1):c.590G>A (p.Ser197Asn) rs541606974 0.00001
NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys) rs374598314 0.00001
NM_001375834.1(WIPF1):c.639C>T (p.Pro213=) rs1408178933 0.00001
NM_001375834.1(WIPF1):c.678C>T (p.Arg226=) rs749598227 0.00001
NM_001375834.1(WIPF1):c.712T>C (p.Ser238Pro) rs1185793589 0.00001
NM_001375834.1(WIPF1):c.757C>T (p.Pro253Ser) rs763819289 0.00001
NM_001375834.1(WIPF1):c.759G>A (p.Pro253=) rs1032410011 0.00001
NM_001375834.1(WIPF1):c.76A>T (p.Asn26Tyr) rs774985492 0.00001
NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu) rs891642872 0.00001
NM_001375834.1(WIPF1):c.909C>T (p.Ser303=) rs745551139 0.00001
NM_001375834.1(WIPF1):c.912A>G (p.Ser304=) rs747496276 0.00001
NM_001375834.1(WIPF1):c.927G>A (p.Pro309=) rs1472504717 0.00001
NM_001710.6(CFB):c.118G>A (p.Glu40Lys) rs1271096223 0.00001
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln) rs1057516209 0.00001
NM_001710.6(CFB):c.1762T>C (p.Tyr588His) rs1364257553 0.00001
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys) rs573842877 0.00001
NM_001710.6(CFB):c.1956+10G>A rs545348156 0.00001
NM_001710.6(CFB):c.427C>T (p.Arg143Cys) rs1242945827 0.00001
NM_001710.6(CFB):c.503C>T (p.Pro168Leu) rs779024832 0.00001
NM_001710.6(CFB):c.507C>T (p.Gly169=) rs990116233 0.00001
NM_001710.6(CFB):c.917A>G (p.Lys306Arg) rs374738591 0.00001
NM_001754.5(RUNX1):c.*134C>T rs1004564780 0.00001
NM_001754.5(RUNX1):c.*1400G>A rs1320740761 0.00001
NM_001754.5(RUNX1):c.*2780A>G rs886057034 0.00001
NM_001754.5(RUNX1):c.*3090A>G rs77715740 0.00001
NM_001754.5(RUNX1):c.*3138C>G rs886057033 0.00001
NM_001754.5(RUNX1):c.*3297T>C rs144175289 0.00001
NM_001754.5(RUNX1):c.*3557C>T rs1046862110 0.00001
NM_001754.5(RUNX1):c.*3588G>C rs886057031 0.00001
NM_001754.5(RUNX1):c.*3638G>A rs1568997203 0.00001
NM_001754.5(RUNX1):c.*429T>C rs533151594 0.00001
NM_001754.5(RUNX1):c.*587T>A rs753931767 0.00001
NM_001754.5(RUNX1):c.1014G>A (p.Ala338=) rs2056460323 0.00001
NM_001754.5(RUNX1):c.1029C>T (p.Ser343=) rs767579059 0.00001
NM_001754.5(RUNX1):c.1030G>A (p.Asp344Asn) rs759684186 0.00001
NM_001754.5(RUNX1):c.1033C>T (p.Pro345Ser) rs1234144396 0.00001
NM_001754.5(RUNX1):c.1034C>G (p.Pro345Arg) rs774629580 0.00001
NM_001754.5(RUNX1):c.1038C>T (p.Arg346=) rs1444425488 0.00001
NM_001754.5(RUNX1):c.1039A>G (p.Met347Val) rs1601333587 0.00001
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile) rs370114565 0.00001
NM_001754.5(RUNX1):c.1069C>T (p.Pro357Ser) rs375989348 0.00001
NM_001754.5(RUNX1):c.1073C>A (p.Thr358Lys) rs962671280 0.00001
NM_001754.5(RUNX1):c.1093G>C (p.Gly365Arg) rs752616540 0.00001
NM_001754.5(RUNX1):c.1098C>T (p.Ile366=) rs767561590 0.00001
NM_001754.5(RUNX1):c.1107G>C (p.Ser369=) rs1445295022 0.00001
NM_001754.5(RUNX1):c.1109C>T (p.Ala370Val) rs1457932375 0.00001
NM_001754.5(RUNX1):c.110G>T (p.Ser37Ile) rs532264127 0.00001
NM_001754.5(RUNX1):c.111C>T (p.Ser37=) rs1555899908 0.00001
NM_001754.5(RUNX1):c.1120G>A (p.Ala374Thr) rs1380391174 0.00001
NM_001754.5(RUNX1):c.1123A>C (p.Thr375Pro) rs2056456909 0.00001
NM_001754.5(RUNX1):c.1160G>C (p.Gly387Ala) rs1238015554 0.00001
NM_001754.5(RUNX1):c.1172C>G (p.Ala391Gly) rs1386664717 0.00001
NM_001754.5(RUNX1):c.1175A>G (p.Gln392Arg) rs1290940209 0.00001
NM_001754.5(RUNX1):c.1185G>C (p.Pro395=) rs964436940 0.00001
NM_001754.5(RUNX1):c.1188C>G (p.Phe396Leu) rs1417292859 0.00001
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly) rs534158221 0.00001
NM_001754.5(RUNX1):c.1201C>T (p.Pro401Ser) rs1422877598 0.00001
NM_001754.5(RUNX1):c.1215G>A (p.Leu405=) rs1488763689 0.00001
NM_001754.5(RUNX1):c.1219T>C (p.Tyr407His) rs1262717333 0.00001
NM_001754.5(RUNX1):c.1221C>T (p.Tyr407=) rs914897271 0.00001
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu) rs1214667759 0.00001
NM_001754.5(RUNX1):c.122C>T (p.Thr41Met) rs769087155 0.00001
NM_001754.5(RUNX1):c.1230G>A (p.Ser410=) rs771529157 0.00001
NM_001754.5(RUNX1):c.1233C>T (p.Ala411=) rs1310943509 0.00001
NM_001754.5(RUNX1):c.1236C>T (p.Gly412=) rs1298273572 0.00001
NM_001754.5(RUNX1):c.1241A>G (p.Tyr414Cys) rs1277204124 0.00001
NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter) rs1397702481 0.00001
NM_001754.5(RUNX1):c.1245G>T (p.Gln415His) rs1376761452 0.00001
NM_001754.5(RUNX1):c.1259G>A (p.Gly420Asp) rs1442265949 0.00001
NM_001754.5(RUNX1):c.1261G>A (p.Gly421Ser) rs1241678655 0.00001
NM_001754.5(RUNX1):c.1263C>G (p.Gly421=) rs1055307 0.00001
NM_001754.5(RUNX1):c.1266G>C (p.Glu422Asp) rs967317406 0.00001
NM_001754.5(RUNX1):c.1268G>C (p.Arg423Pro) rs1205896319 0.00001
NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu) rs1476276192 0.00001
NM_001754.5(RUNX1):c.1272G>A (p.Ser424=) rs1459260782 0.00001
NM_001754.5(RUNX1):c.1285C>T (p.Leu429=) rs1482583619 0.00001
NM_001754.5(RUNX1):c.1287G>A (p.Leu429=) rs1213507506 0.00001
NM_001754.5(RUNX1):c.1289C>T (p.Pro430Leu) rs1253570532 0.00001
NM_001754.5(RUNX1):c.1290G>A (p.Pro430=) rs1336841746 0.00001
NM_001754.5(RUNX1):c.1301A>G (p.Asn434Ser) rs748885850 0.00001
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg) rs777551786 0.00001
NM_001754.5(RUNX1):c.1323G>C (p.Leu441=) rs1394924518 0.00001
NM_001754.5(RUNX1):c.1324C>T (p.Leu442Phe) rs1227184605 0.00001
NM_001754.5(RUNX1):c.1340C>T (p.Pro447Leu) rs1399289174 0.00001
NM_001754.5(RUNX1):c.1342A>T (p.Asn448Tyr) rs1168253908 0.00001
NM_001754.5(RUNX1):c.1347G>C (p.Gln449His) rs1463272999 0.00001
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met) rs916623598 0.00001
NM_001754.5(RUNX1):c.1354G>C (p.Val452Leu) rs916623598 0.00001
NM_001754.5(RUNX1):c.1356G>C (p.Val452=) rs1457702382 0.00001
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu) rs762213305 0.00001
NM_001754.5(RUNX1):c.13A>G (p.Ser5Gly) rs1248488974 0.00001
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu) rs1034562071 0.00001
NM_001754.5(RUNX1):c.1440C>T (p.Tyr480=) rs1555884783 0.00001
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu) rs752298116 0.00001
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu) rs769213771 0.00001
NM_001754.5(RUNX1):c.225C>T (p.Asp75=) rs747801893 0.00001
NM_001754.5(RUNX1):c.231C>T (p.Ser77=) rs1329847140 0.00001
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala) rs1313711063 0.00001
NM_001754.5(RUNX1):c.249C>G (p.Ala83=) rs751280667 0.00001
NM_001754.5(RUNX1):c.253C>A (p.His85Asn) rs121912500 0.00001
NM_001754.5(RUNX1):c.265C>T (p.Leu89=) rs1060504665 0.00001
NM_001754.5(RUNX1):c.287A>G (p.Asn96Ser) rs754168875 0.00001
NM_001754.5(RUNX1):c.294C>T (p.Leu98=) rs1368531129 0.00001
NM_001754.5(RUNX1):c.300C>G (p.Ser100=) rs764387069 0.00001
NM_001754.5(RUNX1):c.30T>A (p.Phe10Leu) rs1456298102 0.00001
NM_001754.5(RUNX1):c.322T>A (p.Cys108Ser) rs2057997947 0.00001
NM_001754.5(RUNX1):c.342C>A (p.Ile114=) rs201747706 0.00001
NM_001754.5(RUNX1):c.352-1G>A rs587776809 0.00001
NM_001754.5(RUNX1):c.352-8G>A rs766842313 0.00001
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu) rs750755857 0.00001
NM_001754.5(RUNX1):c.367G>C (p.Asp123His) rs373498347 0.00001
NM_001754.5(RUNX1):c.369T>A (p.Asp123Glu) rs768100078 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.423G>A (p.Ser141=) rs745649956 0.00001
NM_001754.5(RUNX1):c.426T>C (p.Ala142=) rs779032088 0.00001
NM_001754.5(RUNX1):c.442A>G (p.Thr148Ala) rs1264896287 0.00001
NM_001754.5(RUNX1):c.445G>A (p.Ala149Thr) rs752926959 0.00001
NM_001754.5(RUNX1):c.463G>C (p.Val155Leu) rs763464804 0.00001
NM_001754.5(RUNX1):c.464T>C (p.Val155Ala) rs750866158 0.00001
NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter) rs759068561 0.00001
NM_001754.5(RUNX1):c.4G>A (p.Ala2Thr) rs748052737 0.00001
NM_001754.5(RUNX1):c.508+5G>A rs749241143 0.00001
NM_001754.5(RUNX1):c.523C>G (p.Leu175Val) rs868726626 0.00001
NM_001754.5(RUNX1):c.558C>T (p.Val186=) rs938065676 0.00001
NM_001754.5(RUNX1):c.579C>T (p.Ile193=) rs762702957 0.00001
NM_001754.5(RUNX1):c.598C>T (p.Pro200Ser) rs2057540992 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_001754.5(RUNX1):c.613+15T>C rs542887084 0.00001
NM_001754.5(RUNX1):c.613+19G>A rs772233610 0.00001
NM_001754.5(RUNX1):c.613+7G>A rs1375122279 0.00001
NM_001754.5(RUNX1):c.614-20C>T rs767418895 0.00001
NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp) rs1555890007 0.00001
NM_001754.5(RUNX1):c.623A>T (p.Gln208Leu) rs777320434 0.00001
NM_001754.5(RUNX1):c.629T>C (p.Leu210Pro) rs2057115551 0.00001
NM_001754.5(RUNX1):c.641C>T (p.Thr214Ile) rs747505757 0.00001
NM_001754.5(RUNX1):c.642C>A (p.Thr214=) rs919850103 0.00001
NM_001754.5(RUNX1):c.645G>A (p.Lys215=) rs1312588693 0.00001
NM_001754.5(RUNX1):c.647C>T (p.Pro216Leu) rs773743843 0.00001
NM_001754.5(RUNX1):c.657G>C (p.Leu219Phe) rs1425437469 0.00001
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys) rs765528082 0.00001
NM_001754.5(RUNX1):c.705C>T (p.Ala235=) rs772770088 0.00001
NM_001754.5(RUNX1):c.712G>A (p.Val238Ile) rs761086208 0.00001
NM_001754.5(RUNX1):c.714C>T (p.Val238=) rs776056802 0.00001
NM_001754.5(RUNX1):c.729A>C (p.Pro243=) rs999807714 0.00001
NM_001754.5(RUNX1):c.733C>T (p.Pro245Ser) rs1393294594 0.00001
NM_001754.5(RUNX1):c.735C>T (p.Pro245=) rs902762123 0.00001
NM_001754.5(RUNX1):c.737C>T (p.Thr246Met) rs555366994 0.00001
NM_001754.5(RUNX1):c.738G>A (p.Thr246=) rs546998294 0.00001
NM_001754.5(RUNX1):c.743A>C (p.Asn248Thr) rs747748983 0.00001
NM_001754.5(RUNX1):c.763C>A (p.His255Asn) rs2057111569 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001754.5(RUNX1):c.77A>C (p.Asn26Thr) rs778220296 0.00001
NM_001754.5(RUNX1):c.780C>A (p.Asn260Lys) rs2057111228 0.00001
NM_001754.5(RUNX1):c.805+13T>C rs1395196749 0.00001
NM_001754.5(RUNX1):c.805+14G>A rs2057110599 0.00001
NM_001754.5(RUNX1):c.822A>T (p.Gln274His) rs370766377 0.00001
NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu) rs201164283 0.00001
NM_001754.5(RUNX1):c.828C>A (p.Ser276=) rs1376894886 0.00001
NM_001754.5(RUNX1):c.832C>T (p.Pro278Ser) rs767251526 0.00001
NM_001754.5(RUNX1):c.834G>A (p.Pro278=) rs774311859 0.00001
NM_001754.5(RUNX1):c.856C>A (p.Gln286Lys) rs769966051 0.00001
NM_001754.5(RUNX1):c.85A>G (p.Arg29Gly) rs1170323520 0.00001
NM_001754.5(RUNX1):c.882T>C (p.Pro294=) rs376963970 0.00001
NM_001754.5(RUNX1):c.884C>T (p.Ser295Phe) rs1054355302 0.00001
NM_001754.5(RUNX1):c.900G>A (p.Thr300=) rs533383085 0.00001
NM_001754.5(RUNX1):c.916C>T (p.Arg306Cys) rs202037007 0.00001
NM_001754.5(RUNX1):c.924C>T (p.Ser308=) rs1060504666 0.00001
NM_001754.5(RUNX1):c.936C>T (p.Thr312=) rs368294941 0.00001
NM_001754.5(RUNX1):c.959G>A (p.Arg320Gln) rs761688033 0.00001
NM_001754.5(RUNX1):c.967+10T>C rs2056574293 0.00001
NM_001754.5(RUNX1):c.967+15A>G rs775558440 0.00001
NM_001754.5(RUNX1):c.967A>G (p.Thr323Ala) rs776703625 0.00001
NM_001754.5(RUNX1):c.97+1G>A rs375131372 0.00001
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser) rs746531841 0.00001
NM_001754.5(RUNX1):c.976G>A (p.Asp326Asn) rs1217420692 0.00001
NM_001754.5(RUNX1):c.979C>T (p.Leu327=) rs1157267880 0.00001
NM_001754.5(RUNX1):c.98-4G>A rs1053814127 0.00001
NM_001754.5(RUNX1):c.98-5C>G rs1207133172 0.00001
NM_001754.5(RUNX1):c.980T>G (p.Leu327Arg) rs915447247 0.00001
NM_001754.5(RUNX1):c.981G>C (p.Leu327=) rs376269814 0.00001
NM_001754.5(RUNX1):c.990C>T (p.Phe330=) rs1313529266 0.00001
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) rs724159946 0.00001
NM_001994.3(F13B):c.-23C>A rs761442589 0.00001
NM_001994.3(F13B):c.1145A>G (p.Lys382Arg) rs755966271 0.00001
NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys) rs201438197 0.00001
NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter) rs779048554 0.00001
NM_001994.3(F13B):c.645_647del (p.Leu216del) rs750927097 0.00001
NM_001994.3(F13B):c.675T>A (p.His225Gln) rs182353865 0.00001
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser) rs200832275 0.00001
NM_003664.5(AP3B1):c.*141T>C rs753283084 0.00001
NM_003664.5(AP3B1):c.*447C>T rs886060768 0.00001
NM_003664.5(AP3B1):c.1020G>A (p.Val340=) rs145787996 0.00001
NM_003664.5(AP3B1):c.1021C>T (p.Arg341Cys) rs964935640 0.00001
NM_003664.5(AP3B1):c.1034G>A (p.Ser345Asn) rs750036781 0.00001
NM_003664.5(AP3B1):c.1040+14T>A rs1355146687 0.00001
NM_003664.5(AP3B1):c.1040+20A>G rs369301345 0.00001
NM_003664.5(AP3B1):c.1041-9G>T rs1474245373 0.00001
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val) rs1749668081 0.00001
NM_003664.5(AP3B1):c.1095+19C>T rs377078977 0.00001
NM_003664.5(AP3B1):c.1140T>G (p.Thr380=) rs752592265 0.00001
NM_003664.5(AP3B1):c.1159A>G (p.Thr387Ala) rs762030946 0.00001
NM_003664.5(AP3B1):c.1160C>T (p.Thr387Ile) rs1744114827 0.00001
NM_003664.5(AP3B1):c.1161A>T (p.Thr387=) rs746601394 0.00001
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met) rs758680279 0.00001
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln) rs779980435 0.00001
NM_003664.5(AP3B1):c.1234T>C (p.Tyr412His) rs781034104 0.00001
NM_003664.5(AP3B1):c.1236T>C (p.Tyr412=) rs1468639815 0.00001
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg) rs778910104 0.00001
NM_003664.5(AP3B1):c.1275T>C (p.Ile425=) rs1174063218 0.00001
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val) rs201185966 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.1343G>A (p.Cys448Tyr) rs201877252 0.00001
NM_003664.5(AP3B1):c.1363G>A (p.Glu455Lys) rs1204234337 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.136G>A (p.Asp46Asn) rs768641911 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1424A>G (p.Gln475Arg) rs1743147205 0.00001
NM_003664.5(AP3B1):c.1445A>G (p.His482Arg) rs370497154 0.00001
NM_003664.5(AP3B1):c.1467T>C (p.Ser489=) rs772984182 0.00001
NM_003664.5(AP3B1):c.1554G>C (p.Leu518Phe) rs1364578273 0.00001
NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu) rs1384754808 0.00001
NM_003664.5(AP3B1):c.1650+14G>A rs753974452 0.00001
NM_003664.5(AP3B1):c.1679A>G (p.Asn560Ser) rs776064198 0.00001
NM_003664.5(AP3B1):c.168T>A (p.Asp56Glu) rs1274489549 0.00001
NM_003664.5(AP3B1):c.1718G>A (p.Arg573His) rs1229904606 0.00001
NM_003664.5(AP3B1):c.176A>G (p.Lys59Arg) rs1300050218 0.00001
NM_003664.5(AP3B1):c.1837+10G>A rs1028071929 0.00001
NM_003664.5(AP3B1):c.1873A>T (p.Thr625Ser) rs199908785 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.1903G>A (p.Glu635Lys) rs1381722917 0.00001
NM_003664.5(AP3B1):c.1932C>T (p.Pro644=) rs368771979 0.00001
NM_003664.5(AP3B1):c.1934A>C (p.Asp645Ala) rs1317710866 0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln) rs748191084 0.00001
NM_003664.5(AP3B1):c.1968+9A>G rs750895201 0.00001
NM_003664.5(AP3B1):c.1972A>G (p.Lys658Glu) rs1357683810 0.00001
NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp) rs781781671 0.00001
NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg) rs763619135 0.00001
NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn) rs752440818 0.00001
NM_003664.5(AP3B1):c.205-10T>A rs1340696750 0.00001
NM_003664.5(AP3B1):c.2077+6T>C rs1432974932 0.00001
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu) rs1244138366 0.00001
NM_003664.5(AP3B1):c.2189G>A (p.Arg730Gln) rs933653334 0.00001
NM_003664.5(AP3B1):c.2210A>G (p.Lys737Arg) rs780784576 0.00001
NM_003664.5(AP3B1):c.2250-13C>T rs774882416 0.00001
NM_003664.5(AP3B1):c.2311G>A (p.Glu771Lys) rs758351076 0.00001
NM_003664.5(AP3B1):c.2329G>A (p.Asp777Asn) rs751538828 0.00001
NM_003664.5(AP3B1):c.2384G>A (p.Arg795Lys) rs1017591456 0.00001
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro) rs768483549 0.00001
NM_003664.5(AP3B1):c.2492T>A (p.Val831Asp) rs149948974 0.00001
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=) rs747086403 0.00001
NM_003664.5(AP3B1):c.2527A>G (p.Met843Val) rs201609994 0.00001
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala) rs1056281695 0.00001
NM_003664.5(AP3B1):c.2622T>G (p.Leu874=) rs1471301912 0.00001
NM_003664.5(AP3B1):c.2627G>A (p.Arg876Gln) rs772186737 0.00001
NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val) rs1225801616 0.00001
NM_003664.5(AP3B1):c.2686G>C (p.Gly896Arg) rs1338111569 0.00001
NM_003664.5(AP3B1):c.2708A>C (p.Gln903Pro) rs1240100716 0.00001
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp) rs759300647 0.00001
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val) rs558325834 0.00001
NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu) rs1747935041 0.00001
NM_003664.5(AP3B1):c.27T>G (p.Asn9Lys) rs1170215351 0.00001
NM_003664.5(AP3B1):c.2809+14C>A rs754832294 0.00001
NM_003664.5(AP3B1):c.2809+16C>T rs951058281 0.00001
NM_003664.5(AP3B1):c.2809+4A>G rs747843144 0.00001
NM_003664.5(AP3B1):c.2822C>A (p.Pro941His) rs1022482616 0.00001
NM_003664.5(AP3B1):c.2853T>C (p.Ile951=) rs1263221940 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_003664.5(AP3B1):c.2894+4A>G rs544214699 0.00001
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile) rs369459422 0.00001
NM_003664.5(AP3B1):c.2922T>C (p.Asn974=) rs1256709729 0.00001
NM_003664.5(AP3B1):c.2928G>A (p.Gln976=) rs1199672973 0.00001
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile) rs780459865 0.00001
NM_003664.5(AP3B1):c.2992+20T>C rs755171790 0.00001
NM_003664.5(AP3B1):c.2992+3G>A rs779017901 0.00001
NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg) rs780143358 0.00001
NM_003664.5(AP3B1):c.306G>C (p.Leu102=) rs746322233 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr) rs776628092 0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) rs535976982 0.00001
NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys) rs767072786 0.00001
NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp) rs761729448 0.00001
NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val) rs760735640 0.00001
NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu) rs976542118 0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) rs773537846 0.00001
NM_003664.5(AP3B1):c.382A>G (p.Asn128Asp) rs758062316 0.00001
NM_003664.5(AP3B1):c.536+9A>G rs771528600 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala) rs778281326 0.00001
NM_003664.5(AP3B1):c.565A>G (p.Ile189Val) rs1393665689 0.00001
NM_003664.5(AP3B1):c.603+3A>G rs1357382699 0.00001
NM_003664.5(AP3B1):c.637G>C (p.Glu213Gln) rs1485047029 0.00001
NM_003664.5(AP3B1):c.739A>C (p.Met247Leu) rs1271543780 0.00001
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn) rs914618490 0.00001
NM_003664.5(AP3B1):c.821A>G (p.Tyr274Cys) rs989736183 0.00001
NM_003664.5(AP3B1):c.855C>T (p.Asp285=) rs79932334 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003664.5(AP3B1):c.870G>A (p.Pro290=) rs566729844 0.00001
NM_003664.5(AP3B1):c.883C>A (p.Pro295Thr) rs570476100 0.00001
NM_003664.5(AP3B1):c.911C>T (p.Thr304Ile) rs201075567 0.00001
NM_003664.5(AP3B1):c.929G>C (p.Ser310Thr) rs778226822 0.00001
NM_003664.5(AP3B1):c.941C>T (p.Ala314Val) rs753218867 0.00001
NM_003664.5(AP3B1):c.954A>C (p.Ala318=) rs1744193916 0.00001
NM_003664.5(AP3B1):c.97G>T (p.Ala33Ser) rs773073407 0.00001
NM_005141.5(FGB):c.*1019G>T rs1478189415 0.00001
NM_005141.5(FGB):c.*1892G>A rs765456260 0.00001
NM_005141.5(FGB):c.*36A>G rs758231685 0.00001
NM_005141.5(FGB):c.*427G>A rs1196345013 0.00001
NM_005141.5(FGB):c.-6_-5del rs757727864 0.00001
NM_005141.5(FGB):c.103G>A (p.Asp35Asn) rs747783086 0.00001
NM_005141.5(FGB):c.332A>G (p.Gln111Arg) rs758080375 0.00001
NM_005141.5(FGB):c.564T>C (p.Asn188=) rs759250713 0.00001
NM_005141.5(FGB):c.656A>G (p.Gln219Arg) rs778766319 0.00001
NM_005141.5(FGB):c.659T>C (p.Met220Thr) rs1363577874 0.00001
NM_005141.5(FGB):c.762G>A (p.Met254Ile) rs201536638 0.00001
NM_005141.5(FGB):c.80T>C (p.Leu27Pro) rs1442627097 0.00001
NM_005570.4(LMAN1):c.*1271A>G rs186096990 0.00001
NM_005570.4(LMAN1):c.*1300C>T rs1264494097 0.00001
NM_005570.4(LMAN1):c.*1862A>G rs893452939 0.00001
NM_005570.4(LMAN1):c.*2670G>C rs1263821261 0.00001
NM_005570.4(LMAN1):c.*2893G>A rs143943495 0.00001
NM_005570.4(LMAN1):c.*480A>G rs1169482714 0.00001
NM_005570.4(LMAN1):c.*763T>A rs915077070 0.00001
NM_005570.4(LMAN1):c.*794A>G rs534664183 0.00001
NM_005570.4(LMAN1):c.106G>C (p.Asp36His) rs749081325 0.00001
NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala) rs374176132 0.00001
NM_005570.4(LMAN1):c.1310T>C (p.Ile437Thr) rs199557121 0.00001
NM_005570.4(LMAN1):c.463G>C (p.Asp155His) rs761881594 0.00001
NM_005570.4(LMAN1):c.597T>C (p.Tyr199=) rs984139447 0.00001
NM_005570.4(LMAN1):c.775G>A (p.Val259Ile) rs948402457 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.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.548G>A (p.Arg183Gln) rs574132670 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
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn) rs149605903 0.00001
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val) rs779791657 0.00001
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) rs372182517 0.00001
NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816 0.00001
NM_012388.4(BLOC1S6):c.186A>G (p.Pro62=) rs1209687570 0.00001
NM_012388.4(BLOC1S6):c.224+11A>G rs777210501 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012388.4(BLOC1S6):c.264G>A (p.Glu88=) rs761723925 0.00001
NM_012388.4(BLOC1S6):c.282A>G (p.Glu94=) rs774700428 0.00001
NM_012388.4(BLOC1S6):c.313-9C>T rs765107661 0.00001
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys) rs1427586266 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NM_012388.4(BLOC1S6):c.350A>G (p.Asn117Ser) rs1230644464 0.00001
NM_012388.4(BLOC1S6):c.421C>T (p.Gln141Ter) rs759015758 0.00001
NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr) rs770901442 0.00001
NM_012388.4(BLOC1S6):c.508A>G (p.Lys170Glu) rs760751818 0.00001
NM_012388.4(BLOC1S6):c.69G>A (p.Gly23=) rs774804135 0.00001
NM_012388.4(BLOC1S6):c.75G>A (p.Pro25=) rs1342184206 0.00001
NM_012388.4(BLOC1S6):c.82+8C>G rs1386198190 0.00001
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) rs148893764 0.00001
NM_019616.4(F7):c.*1281G>A rs192084788 0.00001
NM_019616.4(F7):c.*275G>A rs886049988 0.00001
NM_019616.4(F7):c.103C>A (p.Arg35=) rs886049987 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) rs190485816 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_019616.4(F7):c.1316T>C (p.Leu439Pro) rs1370716721 0.00001
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939 0.00001
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019616.4(F7):c.481G>A (p.Asp161Asn) rs1258691292 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_019616.4(F7):c.615+1G>T rs769452933 0.00001
NM_019616.4(F7):c.64+1016A>T rs886049986 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_019616.4(F7):c.739+5G>A rs746625213 0.00001
NM_019616.4(F7):c.844G>A (p.Ala282Thr) rs773627551 0.00001
NM_019616.4(F7):c.937T>C (p.Phe313Leu) rs762858015 0.00001
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021870.3(FGG):c.*494A>G rs1731056413 0.00001
NM_021870.3(FGG):c.1125C>T (p.Tyr375=) rs766524002 0.00001
NM_021870.3(FGG):c.502A>G (p.Thr168Ala) rs141559764 0.00001
NM_021870.3(FGG):c.667-10G>C rs886059155 0.00001
NM_021870.3(FGG):c.677G>T (p.Gly226Val) rs1310452604 0.00001
NM_021871.4(FGA):c.1025G>A (p.Gly342Glu) rs774664670 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1463G>A (p.Gly488Asp) rs1382669489 0.00001
NM_021871.4(FGA):c.1470C>G (p.Asp490Glu) rs1335171406 0.00001
NM_021871.4(FGA):c.1560C>T (p.Phe520=) rs778304190 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg) rs771429165 0.00001
NM_021871.4(FGA):c.1915A>G (p.Lys639Glu) rs1424019951 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NM_021871.4(FGA):c.822C>T (p.Ser274=) rs886059150 0.00001
NM_021871.4(FGA):c.919A>G (p.Asn307Asp) rs750564329 0.00001
NM_022081.6(HPS4):c.*391G>A rs886057315 0.00001
NM_022081.6(HPS4):c.-18A>G rs1159855728 0.00001
NM_022081.6(HPS4):c.-523G>T rs886057323 0.00001
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) rs777570870 0.00001
NM_022081.6(HPS4):c.1692C>T (p.Asp564=) rs759632995 0.00001
NM_022081.6(HPS4):c.1758G>A (p.Leu586=) rs1356334936 0.00001
NM_022081.6(HPS4):c.411G>A (p.Thr137=) rs375462083 0.00001
NM_022081.6(HPS4):c.637G>A (p.Val213Ile) rs766791829 0.00001
NM_022081.6(HPS4):c.687G>A (p.Glu229=) rs758547221 0.00001
NM_022081.6(HPS4):c.706+1G>A rs374343385 0.00001
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318 0.00001
NM_022081.6(HPS4):c.81G>A (p.Lys27=) rs763708665 0.00001
NM_022081.6(HPS4):c.930T>C (p.Asp310=) rs1210344296 0.00001
NM_022081.6(HPS4):c.958G>C (p.Asp320His) rs143965829 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_022788.5(P2RY12):c.793C>T (p.Arg265Trp) rs121917886 0.00001
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro) rs755459581 0.00001
NM_024006.6(VKORC1):c.267A>T (p.Thr89=) rs200133418 0.00001
NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) rs72547528 0.00001
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_024747.6(HPS6):c.1114C>T (p.Arg372Ter) rs776754431 0.00001
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala) rs755069670 0.00001
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg) rs772897521 0.00001
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val) rs762013198 0.00001
NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter) rs377169467 0.00001
NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333 0.00001
NM_024747.6(HPS6):c.2166C>T (p.Phe722=) rs746069907 0.00001
NM_024747.6(HPS6):c.223C>T (p.Gln75Ter) rs281865107 0.00001
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr) rs367872565 0.00001
NM_024747.6(HPS6):c.2307G>A (p.Pro769=) rs553794194 0.00001
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val) rs4917959 0.00001
NM_024747.6(HPS6):c.303C>T (p.Ala101=) rs952447952 0.00001
NM_024747.6(HPS6):c.466_475dup (p.Phe159fs) rs1462863412 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_024747.6(HPS6):c.831C>G (p.Pro277=) rs1368416172 0.00001
NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly) rs1283689984 0.00001
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945 0.00001
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=) rs367543105 0.00001
NM_032122.5(DTNBP1):c.488+18G>A rs746234584 0.00001
NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met) rs367543104 0.00001
NM_032383.5(HPS3):c.*239G>A rs886058083 0.00001
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) rs771822133 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078 0.00001
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483 0.00001
NM_032383.5(HPS3):c.1785A>G (p.Val595=) rs150262900 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter) rs1488175163 0.00001
NM_032383.5(HPS3):c.1951A>G (p.Met651Val) rs753269782 0.00001
NM_032383.5(HPS3):c.2078A>G (p.His693Arg) rs759772353 0.00001
NM_032383.5(HPS3):c.2181C>T (p.Thr727=) rs573058813 0.00001
NM_032383.5(HPS3):c.2292+1G>A rs755724489 0.00001
NM_032383.5(HPS3):c.2318del (p.Thr773fs) rs866769733 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_032383.5(HPS3):c.305C>A (p.Ser102Tyr) rs1189649144 0.00001
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018 0.00001
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416 0.00001
NM_032383.5(HPS3):c.687C>A (p.Asn229Lys) rs750964494 0.00001
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs) rs760577035 0.00001
NM_032383.5(HPS3):c.906G>A (p.Ser302=) rs1157223288 0.00001
NM_032383.5(HPS3):c.938A>G (p.His313Arg) rs910569690 0.00001
NM_032383.5(HPS3):c.970G>A (p.Gly324Ser) rs370943042 0.00001
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu) rs281875338 0.00001
NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys) rs376606652 0.00001
NM_139027.6(ADAMTS13):c.1518C>A (p.Thr506=) rs782315134 0.00001
NM_139027.6(ADAMTS13):c.1584+5G>A rs782235228 0.00001
NM_139027.6(ADAMTS13):c.1706-4C>T rs967189107 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=) rs781945326 0.00001
NM_139027.6(ADAMTS13):c.1930C>T (p.Arg644Cys) rs782659882 0.00001
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr) rs374840594 0.00001
NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=) rs367627378 0.00001
NM_139027.6(ADAMTS13):c.2732-8C>T rs886063634 0.00001
NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly) rs121908468 0.00001
NM_139027.6(ADAMTS13):c.2912T>C (p.Val971Ala) rs978677428 0.00001
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln) rs373569027 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) rs281875340 0.00001
NM_139027.6(ADAMTS13):c.3400+136T>A rs782166349 0.00001
NM_139027.6(ADAMTS13):c.3400+17G>T rs782724202 0.00001
NM_139027.6(ADAMTS13):c.3400+19C>T rs781785040 0.00001
NM_139027.6(ADAMTS13):c.3400+32C>T rs1554795505 0.00001
NM_139027.6(ADAMTS13):c.3400+93C>T rs587664518 0.00001
NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr) rs121908474 0.00001
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln) rs782213090 0.00001
NM_139027.6(ADAMTS13):c.3941C>T (p.Ala1314Val) rs782145338 0.00001
NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=) rs1393965473 0.00001
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287 0.00001
NM_139279.6(MCFD2):c.*1024C>T rs1668136066 0.00001
NM_139279.6(MCFD2):c.*1079C>T rs980914930 0.00001
NM_139279.6(MCFD2):c.*1316G>T rs1301628664 0.00001
NM_139279.6(MCFD2):c.*1448G>A rs1041505834 0.00001
NM_139279.6(MCFD2):c.*1537G>C rs1280227531 0.00001
NM_139279.6(MCFD2):c.*1610A>T rs1668107899 0.00001
NM_139279.6(MCFD2):c.*173G>T rs886056116 0.00001
NM_139279.6(MCFD2):c.*2647A>C rs374313566 0.00001
NM_139279.6(MCFD2):c.*2760G>T rs1403622431 0.00001
NM_139279.6(MCFD2):c.*2789G>C rs886056108 0.00001
NM_139279.6(MCFD2):c.*648C>T rs1468272258 0.00001
NM_139279.6(MCFD2):c.138G>A (p.Val46=) rs766859640 0.00001
NM_139279.6(MCFD2):c.149+5G>A rs387906286 0.00001
NM_139279.6(MCFD2):c.236T>C (p.Met79Thr) rs886056118 0.00001
NM_139279.6(MCFD2):c.321A>G (p.Glu107=) rs1322883135 0.00001
NM_139279.6(MCFD2):c.363A>G (p.Ile121Met) rs768388209 0.00001
NM_139279.6(MCFD2):c.407T>C (p.Ile136Thr) rs137852914 0.00001
NM_145167.3(PIGM):c.1199A>G (p.Asn400Ser) rs780718300 0.00001
NM_145167.3(PIGM):c.183C>T (p.Phe61=) rs745664346 0.00001
NM_145167.3(PIGM):c.294C>T (p.Leu98=) rs750695305 0.00001
NM_145167.3(PIGM):c.404C>T (p.Pro135Leu) rs143961780 0.00001
NM_145167.3(PIGM):c.412A>G (p.Met138Val) rs773106649 0.00001
NM_145167.3(PIGM):c.438G>A (p.Ala146=) rs772665564 0.00001
NM_145167.3(PIGM):c.696A>G (p.Ala232=) rs1648314579 0.00001
NM_172351.3(CD46):c.*1146G>C rs914566029 0.00001
NM_172351.3(CD46):c.*1613C>T rs908893859 0.00001
NM_172351.3(CD46):c.*1888C>T rs886045846 0.00001
NM_172351.3(CD46):c.*1963C>T rs886045847 0.00001
NM_172351.3(CD46):c.*920A>G rs886045841 0.00001
NM_172351.3(CD46):c.-10C>T rs931567100 0.00001
NM_172351.3(CD46):c.1018+7A>G rs771467005 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720 0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter) rs121909590 0.00001
NM_172351.3(CD46):c.287-2A>G rs759813089 0.00001
NM_172351.3(CD46):c.586G>C (p.Gly196Arg) rs1656188708 0.00001
NM_172351.3(CD46):c.718T>C (p.Ser240Pro) rs121909589 0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs) rs1191117776 0.00001
NM_172351.3(CD46):c.857-185T>C rs376519984 0.00001
NM_172351.3(CD46):c.860C>T (p.Ser287Leu) rs751860518 0.00001
NM_172351.3(CD46):c.901+9A>G rs370112627 0.00001
NM_172351.3(CD46):c.98-1G>C rs1441937053 0.00001
NM_181507.1(HPS5):c.-263A>G rs886048086 0.00001
NM_181507.2(HPS5):c.*1023T>G rs886048069 0.00001
NM_181507.2(HPS5):c.*276T>G rs146958457 0.00001
NM_181507.2(HPS5):c.*469A>G rs1858594870 0.00001
NM_181507.2(HPS5):c.*839T>C rs537810532 0.00001
NM_181507.2(HPS5):c.-195A>G rs533200717 0.00001
NM_181507.2(HPS5):c.-197C>T rs886048085 0.00001
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser) rs547880287 0.00001
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly) rs747748271 0.00001
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln) rs190883305 0.00001
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val) rs370396275 0.00001
NM_181507.2(HPS5):c.1803T>C (p.Thr601=) rs762327635 0.00001
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile) rs190221223 0.00001
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly) rs564959505 0.00001
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg) rs763599072 0.00001
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter) rs281865104 0.00001
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp) rs775281184 0.00001
NM_181507.2(HPS5):c.2838-13T>C rs377293025 0.00001
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met) rs369368194 0.00001
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075 0.00001
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val) rs773390398 0.00001
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=) rs868410563 0.00001
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln) rs974587263 0.00001
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) rs764296457 0.00001
NM_181507.2(HPS5):c.755G>A (p.Gly252Glu) rs755846129 0.00001
NM_181507.2(HPS5):c.825-14del rs886048082 0.00001
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu) rs1021933564 0.00001
11p15.1 deletion
46;XX;t(6;20)(q25.1;p13)dn
AT-III Barcelona
AT-III Fontainebleu
AT-III Roma
AT-III Trento
C223R
CD36, G1439C, 1-BP DEL, 1444A
E7D
Exon 5 deletion, about 2 kb
F378L
F8, 23-BP DEL, FS
F8, 89-BP DEL, FS
F8, EX11-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX26DEL
F8, EX5DEL
F8, IVS22 INV
F9, 17747G-A
F9, 17747G-C
F9, EX2-8DEL
F9, EX5-8DEL
F9, GLY367ARG
F9, TRP215TER
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
GRCh37/hg19 12p13.31(chr12:6127530-6233842)
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
Multiple alleles
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
NC_000001.10:g.(?_160000258)_(160001799_?)del
NC_000001.10:g.(?_169492415)_(169555624_?)dup
NC_000001.10:g.(?_169497133)_(169497352_?)del
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.160032009G>C rs587776528
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_000001.11:g.173917430G>C
NC_000001.11:g.196706898_196873196del
NC_000002.11:g.(?_127806102)_(129076137_?)del
NC_000002.11:g.(?_128175983)_(128184818_?)del
NC_000002.11:g.(?_128176278)_(128177573_?)del
NC_000002.11:g.(?_175427255)_(175450321_?)dup
NC_000002.11:g.(?_175427275)_(175450301_?)dup
NC_000002.11:g.(?_175427275)_(175629122_?)dup
NC_000002.12:g.127418412T>C
NC_000002.12:g.127418425T>C rs2104934553
NC_000002.12:g.5853982_6200592del
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
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_000003.12:g.93879713_93906171del
NC_000004.11:g.(?_155484162)_(155493960_?)del
NC_000004.11:g.(?_155506411)_(155510715_155511785)del
NC_000004.11:g.(?_155506426)_(155511895_?)del
NC_000004.11:g.(?_155525322)_(155533809_?)del
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del
NC_000004.12:g.(186261554_186262508)_(?_186293752)del
NC_000005.10:g.(?_78020672)_(78089519_?)del
NC_000005.10:g.(?_78089373)_(78141339_?)del
NC_000005.9:g.(?_76115008)_(78281071_?)del
NC_000005.9:g.(?_77471430)_(77477506_?)del
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NC_000005.9:g.(?_77590256)_(77590403_?)del
NC_000006.11:g.(6146006_6152045)_(6182375_6196029)del
NC_000007.14:g.80649748_80727446del
NC_000011.10:g.46723492G>T rs2134528259
NC_000011.9:g.(?_46722598)_(46761066_?)dup
NC_000011.9:g.(?_46746328)_(46748347_?)del
NC_000012.11:g.(6105389_6120782)_(6121297_6122646)del
NC_000012.11:g.(6105389_6120782)_(6220135_6230339)del
NC_000012.11:g.(6105389_6120782)_(6233842_?)del
NC_000012.11:g.(6153618_6155888)_(6155984_6161708)del
NC_000012.11:g.(6161950_6166021)_(6167211_6172119)del
NC_000012.11:g.(6184718_6204625)_(6204751_6219539)del
NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del
NC_000012.11:g.(6204751_6219539)_(6233842_?)del
NC_000012.11:g.(6220135_6230339)_(6233842_?)del
NC_000012.11:g.(?_6058042)_(6233837_?)del
NC_000012.11:g.(?_6058180)_(6105389_6120781)del
NC_000012.11:g.(?_6058180)_(6233842_?)del
NC_000012.11:g.6128479_6128749delins[NC_000022.10:g.17178616_17178886]
NC_000012.11:g.6128633_6128795delins[NC_000022.10:g.17178770_17178932]
NC_000012.12:g.(?_45216094)_(45367794_45378052)del
NC_000012.12:g.6019283_6019313delins[NC_000022.11:g.16697696_16697726]
NC_000012.12:g.6019283_6019339delins[NC_000022.11:g.16697696_16697856]
NC_000012.12:g.6019283_6019391delins[NC_000022.11:g.16697696_16697804]
NC_000012.12:g.6019583_6019621delins[NC_000022.11:g.16697996_16698034]
NC_000012.12:g.6019583_6019629delins[NC_000022.11:g.16697996_16698042]
NC_000012.12:g.6019583_6019732delins[NC_000022.11:g.16697996_16698145]
NC_000012.12:g.6019621_6019629delins[NC_000022.11:g.16698034_16698042]
NC_000012.12:g.6019621_6019683delins[NC_000022.11:g.16698034_16698096]
NC_000012.12:g.6019621_6019732delins[NC_000022.11:g.16698034_16698145]
NC_000013.11:g.109179481_114327244del
NC_000015.10:g.45592135del
NC_000015.9:g.(?_45879642)_(45898712_?)dup
NC_000015.9:g.(?_45884313)_(45898712_?)del
NC_000017.10:g.(?_42454357)_(42456098_?)del
NC_000017.11:g.44385077del
NC_000017.11:g.44393555C>T rs2048710914
NC_000017.11:g.47296304_47307500del
NC_000021.8:g.(?_32439271)_(39212984_?)dup
NC_000021.8:g.(?_36079578)_(37133458_?)del
NC_000021.8:g.(?_36111201)_(36231885_?)dup
NC_000021.8:g.(?_36111201)_(36265270_?)dup
NC_000021.8:g.(?_36164422)_(36421595_?)dup
NC_000021.8:g.(?_36164426)_(36171765_?)del
NC_000021.8:g.(?_36164426)_(36231881_?)dup
NC_000021.8:g.(?_36164426)_(36421202_?)del
NC_000021.8:g.(?_36164432)_(36164917_?)del
NC_000021.8:g.(?_36164432)_(36421257_?)del
NC_000021.8:g.(?_36164432)_(37834775_?)del
NC_000021.8:g.(?_36171588)_(36421595_?)del
NC_000021.8:g.(?_36171588)_(36421595_?)dup
NC_000021.8:g.(?_36182049)_(36231885_?)del
NC_000021.8:g.(?_36206697)_(36206908_?)del
NC_000021.8:g.(?_36231761)_(36231885_?)del
NC_000021.8:g.(?_36231761)_(36253020_?)del
NC_000021.8:g.(?_36252834)_(36421595_?)del
NC_000021.8:g.(?_36252844)_(36253020_?)del
NC_000021.8:g.(?_36421133)_(36421202_?)del
NC_000021.8:g.35304341_36865875del
NC_000021.8:g.35742772-?_36421202+?del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NC_000021.9:g.(?_34787801)_(35048958_?)del
NC_000021.9:g.(?_34792125)_(34892973_?)del
NC_000021.9:g.(?_34799291)_(35049298_?)del
NC_000021.9:g.(?_34834400)_(34892973_?)dup
NC_000021.9:g.(?_34880547)_(34880723_?)del
NC_000021.9:g.(?_35048832)_(35049298_?)del
NC_000021.9:g.(?_35048832)_(35049298_?)dup
NC_000021.9:g.(?_35048836)_(35048905_?)del
NC_000021.9:g.34799252_36071979del
NC_000023.10:g.(154091503_154124351)_(154227876_154250684)dup
NC_000023.10:g.(154091503_154124351)_(154250999_?)del
NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del
NC_000023.10:g.(154134849_154156845)_(154159952_154175972)dup
NC_000023.10:g.(154159952_154175972)_(154176183_154182166)dup
NC_000023.10:g.(154159952_154175972)_(154197828_154212961)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.(?_138612923)_(138619546_138623234)del
NC_000023.10:g.(?_138633201)_(138633443_?)del
NC_000023.10:g.(?_154105777)_(154113526_?)dup
NC_000023.10:g.(?_154689387)_(154776950_?)dup
NC_000023.10:g.(?_46618120)_(48549553_?)del
NC_000023.10:g.(?_48368209)_(51241672_?)dup
NC_000023.10:g.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.10:g.(?_48542243)_(48549553_?)dup
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NC_000023.10:g.(?_54610638)_(154689386_?)dup
NC_000023.10:g.154182167_154227754inv
NC_000023.11:g.(154805077_154806947)_(155030999_?)del
NC_000023.11:g.(154863228_154896077)_(155022724_?)del
NC_000023.11:g.(154930804_?)_(?_154933516)del
NC_000023.11:g.(154959165_?)_(?_154963500)del
NC_000023.11:g.(154969553_154984686)_(155022724_?)del
NC_000023.11:g.(154974508_154984686)_(154984804_154986431)del
NC_000023.11:g.(154986438_154987103)_(154997096_154997956)del
NC_000023.11:g.(?_139530701)_(139563439_?)del
NC_000023.11:g.(?_139530738)_(139530853_139537009)del
NC_000023.11:g.(?_139530739)_(139563459_?)del
NC_000023.11:g.(?_139530759)_(139562076_?)del
NC_000023.11:g.(?_139541049)_(139563439_?)del
NC_000023.11:g.(?_154835791)_(154837753_154860431)del
NC_000023.11:g.(?_154835791)_(154837753_?)del
NC_000023.11:g.(?_154835791_(154905024_154906419)del
NC_000023.11:g.(?_154931495)_(154989517_154990580)del
NC_000023.11:g.(?_155022409)_(155022724_?)del
NC_000023.11:g.139529943A>G
NC_000023.11:g.139530038T>C
NC_000023.11:g.139530731A>G rs1927322453
NC_000023.11:g.154161393_154377600dup
NC_000023.11:g.154966457A>C
NC_000023.11:g.155026937_155027122del rs2073793798
NC_000023.11:g.48681722_48688043inv
NG_007994.1:g.(11652_15340)_(15455_22627)del
NG_007994.1:g.(11652_15340)_(22757_25326)del
NG_007994.1:g.(25530_35005)_(35121_35788)del
NG_008332.2:g.48605_58661del
NG_011403.1:g.2114_5221del
NG_011403.2:g.(123429_123635)_(125674_126281)del
NG_011403.2:g.(123819_125556)_(127859_131491)del
NG_011403.2:g.(127859_131491)_(131648_164496)del
NG_011403.2:g.(131648_164496)_(167293_189971)del
NG_011403.2:g.(164642_165857)_(167293_189971)del
NG_011403.2:g.(28246_30628)_(30752_34575)del
NG_011403.2:g.(28246_30628)_(80027_96047)del
NG_011403.2:g.(30752_34575)_(167293_189971)del
NG_011403.2:g.(30752_34575)_(66650_70552)del
NG_011403.2:g.(34789_40418)_(43038_58171)del
NG_011403.2:g.(43038_58171)_(61755_66555)del
NG_011403.2:g.(43038_58171)_(99154_121150)del
NG_011403.2:g.(5000_5315)_(40488_42920)del
NG_011403.2:g.(5315_28123)_(30752_30752)del
NG_011403.2:g.(5315_28123)_(34789_40418)del
NG_011403.2:g.(80027_96047)_(127859_131491)del
NG_011403.2:g.(80027_96047)_(131648_164496)del
NG_011403.2:g.(80027_96047)_(99154_121150)del
NG_011403.2:g.(99154_121150)_(123819_125556)del
NG_011403.2:g.2731_26150dup
NG_011403.2:g.97660_97662delinsAluYb8
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) rs1940905575
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000064.3(C3):c.-75A>C rs1316357912
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1003+1G>A
NM_000064.4(C3):c.1007G>T (p.Ser336Ile)
NM_000064.4(C3):c.1021G>A (p.Ala341Thr)
NM_000064.4(C3):c.108G>A (p.Leu36=)
NM_000064.4(C3):c.1125C>A (p.Phe375Leu)
NM_000064.4(C3):c.1147C>G (p.Pro383Ala)
NM_000064.4(C3):c.1175A>G (p.Gln392Arg)
NM_000064.4(C3):c.1189G>A (p.Val397Met)
NM_000064.4(C3):c.1254G>T (p.Lys418Asn)
NM_000064.4(C3):c.1262G>A (p.Ser421Asn)
NM_000064.4(C3):c.1269+14C>A rs886054655
NM_000064.4(C3):c.1269+4C>A
NM_000064.4(C3):c.1313C>G (p.Thr438Ser)
NM_000064.4(C3):c.1352A>G (p.Asn451Ser)
NM_000064.4(C3):c.1354T>A (p.Ser452Thr)
NM_000064.4(C3):c.1370A>G (p.His457Arg)
NM_000064.4(C3):c.1397G>C (p.Arg466Thr)
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.1416C>G (p.Asn472Lys)
NM_000064.4(C3):c.1448A>C (p.His483Pro)
NM_000064.4(C3):c.145G>T (p.Ala49Ser)
NM_000064.4(C3):c.1462C>T (p.Arg488Cys)
NM_000064.4(C3):c.1479+16G>C
NM_000064.4(C3):c.1479+19A>C
NM_000064.4(C3):c.1479+5G>A
NM_000064.4(C3):c.1480-9T>G
NM_000064.4(C3):c.1514G>A (p.Arg505His)
NM_000064.4(C3):c.1523G>C (p.Arg508Pro)
NM_000064.4(C3):c.1532G>A (p.Gly511Asp)
NM_000064.4(C3):c.1537G>A (p.Asp513Asn)
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.1570G>A (p.Asp524Asn)
NM_000064.4(C3):c.1598C>T (p.Ala533Val)
NM_000064.4(C3):c.1636G>T (p.Val546Leu)
NM_000064.4(C3):c.1645G>A (p.Asp549Asn)
NM_000064.4(C3):c.1686+10C>T rs776885748
NM_000064.4(C3):c.1700G>A (p.Ser567Asn)
NM_000064.4(C3):c.1718G>A (p.Arg573Gln)
NM_000064.4(C3):c.1718G>T (p.Arg573Leu)
NM_000064.4(C3):c.1723C>T (p.Pro575Ser)
NM_000064.4(C3):c.1725T>C (p.Pro575=) rs1967865144
NM_000064.4(C3):c.176T>C (p.Val59Ala)
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.1843A>G (p.Lys615Glu)
NM_000064.4(C3):c.1858G>T (p.Val620Leu)
NM_000064.4(C3):c.1859T>C (p.Val620Ala)
NM_000064.4(C3):c.1909G>A (p.Gly637Ser)
NM_000064.4(C3):c.1920C>T (p.Ser640=) rs139693406
NM_000064.4(C3):c.1946G>C (p.Ser649Thr)
NM_000064.4(C3):c.1962C>T (p.Thr654=)
NM_000064.4(C3):c.1963G>A (p.Ala655Thr)
NM_000064.4(C3):c.1964C>T (p.Ala655Val)
NM_000064.4(C3):c.1979T>C (p.Leu660Pro)
NM_000064.4(C3):c.1997C>T (p.Ala666Val)
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.2048-9C>T
NM_000064.4(C3):c.2096G>A (p.Arg699Gln)
NM_000064.4(C3):c.20C>T (p.Pro7Leu)
NM_000064.4(C3):c.2135G>A (p.Arg712His)
NM_000064.4(C3):c.2216C>T (p.Ala739Val)
NM_000064.4(C3):c.2235C>T (p.Gly745=)
NM_000064.4(C3):c.2244G>A (p.Arg748=)
NM_000064.4(C3):c.2245+4G>A
NM_000064.4(C3):c.2260G>A (p.Asp754Asn)
NM_000064.4(C3):c.2290C>T (p.Arg764Ter)
NM_000064.4(C3):c.2315T>C (p.Leu772Pro)
NM_000064.4(C3):c.2326G>C (p.Glu776Gln) rs2145417819
NM_000064.4(C3):c.2373G>A (p.Met791Ile)
NM_000064.4(C3):c.2379A>G (p.Ile793Met)
NM_000064.4(C3):c.2390A>C (p.Asp797Ala) rs1967690681
NM_000064.4(C3):c.2416G>T (p.Ala806Ser)
NM_000064.4(C3):c.2425A>T (p.Met809Leu)
NM_000064.4(C3):c.2429C>T (p.Ser810Leu) rs781280055
NM_000064.4(C3):c.2431G>C (p.Asp811His)
NM_000064.4(C3):c.2485TTC[1] (p.Phe830del)
NM_000064.4(C3):c.2527G>A (p.Glu843Lys) rs771305132
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) rs121909586
NM_000064.4(C3):c.2567A>G (p.Gln856Arg)
NM_000064.4(C3):c.2583+3G>A
NM_000064.4(C3):c.2584G>T (p.Val862Leu) rs1967565745
NM_000064.4(C3):c.2588G>A (p.Arg863Lys)
NM_000064.4(C3):c.2596C>G (p.Leu866Val) rs1003444388
NM_000064.4(C3):c.2615del (p.Phe872fs)
NM_000064.4(C3):c.2617T>C (p.Cys873Arg) rs1967565177
NM_000064.4(C3):c.2656G>A (p.Val886Ile)
NM_000064.4(C3):c.267+3G>A
NM_000064.4(C3):c.267+9A>G rs762058420
NM_000064.4(C3):c.2670C>G (p.Pro890=) rs137956083
NM_000064.4(C3):c.268-4C>T
NM_000064.4(C3):c.2686G>A (p.Val896Ile)
NM_000064.4(C3):c.2686G>C (p.Val896Leu)
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2706G>C (p.Pro902=)
NM_000064.4(C3):c.276del (p.Asn93fs)
NM_000064.4(C3):c.2771G>A (p.Gly924Asp)
NM_000064.4(C3):c.2825_2826del (p.Val942fs)
NM_000064.4(C3):c.2852G>A (p.Arg951His)
NM_000064.4(C3):c.2852G>T (p.Arg951Leu)
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2863+15G>T rs759976981
NM_000064.4(C3):c.2863+1G>T
NM_000064.4(C3):c.2929G>A (p.Glu977Lys)
NM_000064.4(C3):c.2950+5G>C
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.2972C>T (p.Thr991Ile)
NM_000064.4(C3):c.2996G>A (p.Arg999Gln)
NM_000064.4(C3):c.3059C>T (p.Pro1020Leu)
NM_000064.4(C3):c.3095A>C (p.Glu1032Ala)
NM_000064.4(C3):c.3130G>C (p.Gly1044Arg)
NM_000064.4(C3):c.3155-11C>T
NM_000064.4(C3):c.3155-17CT[3]
NM_000064.4(C3):c.3208G>A (p.Val1070Met)
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) rs121909584
NM_000064.4(C3):c.3294A>G (p.Gln1098=)
NM_000064.4(C3):c.3295G>A (p.Val1099Ile)
NM_000064.4(C3):c.3326T>G (p.Leu1109Arg)
NM_000064.4(C3):c.3341C>T (p.Pro1114Leu)
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.3403A>G (p.Asn1135Asp)
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser) rs1918144043
NM_000064.4(C3):c.3433G>A (p.Ala1145Thr)
NM_000064.4(C3):c.3457G>A (p.Glu1153Lys)
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) rs1918142335
NM_000064.4(C3):c.3488A>C (p.Asn1163Thr)
NM_000064.4(C3):c.3490-13C>T
NM_000064.4(C3):c.3537C>A (p.Asn1179Lys) rs1918021723
NM_000064.4(C3):c.3556T>G (p.Ser1186Ala)
NM_000064.4(C3):c.3586C>T (p.Leu1196=) rs1918019867
NM_000064.4(C3):c.3599G>A (p.Gly1200Asp)
NM_000064.4(C3):c.3605T>C (p.Leu1202Pro)
NM_000064.4(C3):c.3635C>T (p.Thr1212Ile)
NM_000064.4(C3):c.367G>T (p.Val123Phe)
NM_000064.4(C3):c.3687del (p.Asn1229fs)
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser) rs1918001974
NM_000064.4(C3):c.3794G>A (p.Gly1265Asp)
NM_000064.4(C3):c.3869A>G (p.Gln1290Arg)
NM_000064.4(C3):c.3880C>T (p.Leu1294Phe)
NM_000064.4(C3):c.3890C>T (p.Ser1297Phe)
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.3969+3A>G
NM_000064.4(C3):c.3976G>C (p.Glu1326Gln)
NM_000064.4(C3):c.4003_4004delinsAT (p.Glu1335Ile)
NM_000064.4(C3):c.4028C>T (p.Ser1343Leu)
NM_000064.4(C3):c.4070C>A (p.Thr1357Asn)
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000064.4(C3):c.4234G>A (p.Ala1412Thr)
NM_000064.4(C3):c.4234G>T (p.Ala1412Ser)
NM_000064.4(C3):c.4261-6C>T
NM_000064.4(C3):c.4299G>T (p.Glu1433Asp)
NM_000064.4(C3):c.4310_4311delinsTT (p.Ala1437Val)
NM_000064.4(C3):c.4314C>T (p.Phe1438=)
NM_000064.4(C3):c.432A>G (p.Thr144=)
NM_000064.4(C3):c.4351-12C>T
NM_000064.4(C3):c.4379C>G (p.Ala1460Gly)
NM_000064.4(C3):c.4411C>A (p.Leu1471Ile)
NM_000064.4(C3):c.445A>T (p.Ile149Phe)
NM_000064.4(C3):c.4478A>G (p.Tyr1493Cys)
NM_000064.4(C3):c.453C>T (p.Thr151=) rs148870667
NM_000064.4(C3):c.4547-16C>G rs1414347444
NM_000064.4(C3):c.4570G>C (p.Asp1524His)
NM_000064.4(C3):c.4604A>G (p.Lys1535Arg)
NM_000064.4(C3):c.4643G>A (p.Arg1548Gln)
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4645C>T (p.Leu1549=) rs149202905
NM_000064.4(C3):c.4697A>G (p.Glu1566Gly)
NM_000064.4(C3):c.4730A>T (p.Gln1577Leu)
NM_000064.4(C3):c.4745G>A (p.Arg1582His)
NM_000064.4(C3):c.478G>A (p.Gly160Ser)
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000064.4(C3):c.4821C>G (p.Leu1607=)
NM_000064.4(C3):c.4843A>G (p.Lys1615Glu)
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
NM_000064.4(C3):c.4873G>C (p.Asp1625His)
NM_000064.4(C3):c.4887G>C (p.Glu1629Asp)
NM_000064.4(C3):c.4918del (p.Glu1640fs)
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000064.4(C3):c.522G>A (p.Pro174=)
NM_000064.4(C3):c.533A>G (p.Asp178Gly)
NM_000064.4(C3):c.587C>T (p.Pro196Leu)
NM_000064.4(C3):c.595G>A (p.Val199Ile)
NM_000064.4(C3):c.629A>G (p.Tyr210Cys)
NM_000064.4(C3):c.636C>G (p.Asn212Lys)
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000064.4(C3):c.680A>G (p.Tyr227Cys)
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.688C>G (p.Pro230Ala)
NM_000064.4(C3):c.744G>C (p.Glu248Asp)
NM_000064.4(C3):c.75-1G>A
NM_000064.4(C3):c.765C>T (p.Ile255=)
NM_000064.4(C3):c.774-1G>T
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000064.4(C3):c.836A>C (p.Glu279Ala)
NM_000064.4(C3):c.85A>G (p.Ile29Val) rs1420892330
NM_000064.4(C3):c.863T>G (p.Leu288Arg)
NM_000064.4(C3):c.869G>A (p.Arg290His)
NM_000064.4(C3):c.875C>T (p.Pro292Leu)
NM_000064.4(C3):c.890C>T (p.Ser297Leu)
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029
NM_000096.4(CP):c.*1007T>A rs36120450
NM_000096.4(CP):c.*373C>T rs370247691
NM_000096.4(CP):c.*536G>C rs1725167347
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_000128.3(F11):c.-153T>G rs2126696047
NM_000128.3(F11):c.-164G>A rs1739485056
NM_000128.3(F11):c.-233C>T rs1263431242
NM_000128.3(F11):c.-300C>T rs886059296
NM_000128.4(F11):c.*1039G>A rs1741449262
NM_000128.4(F11):c.*174C>T rs1741399736
NM_000128.4(F11):c.*262A>G rs886059300
NM_000128.4(F11):c.*445C>T rs1741414677
NM_000128.4(F11):c.*609C>A rs938214207
NM_000128.4(F11):c.*636A>G rs886059302
NM_000128.4(F11):c.*933C>G rs982607401
NM_000128.4(F11):c.*974ATT[1] rs886059304
NM_000128.4(F11):c.-1-138A>C rs3822057
NM_000128.4(F11):c.-2G>C rs1580057911
NM_000128.4(F11):c.1028+1G>A rs1316806485
NM_000128.4(F11):c.1029-2A>G rs1024865708
NM_000128.4(F11):c.1049T>C (p.Leu350Pro) rs2126759475
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1106A>G (p.Tyr369Cys) rs1580090672
NM_000128.4(F11):c.1120T>C (p.Cys374Arg) rs1580090765
NM_000128.4(F11):c.1135+4A>C
NM_000128.4(F11):c.1137G>C (p.Glu379Asp) rs1580098240
NM_000128.4(F11):c.1138T>C (p.Cys380Arg)
NM_000128.4(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.4(F11):c.1192G>A (p.Glu398Lys) rs746475013
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000128.4(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.4(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.4(F11):c.1220C>A (p.Thr407Lys)
NM_000128.4(F11):c.1232_1235del (p.Thr411fs) rs1057517446
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000128.4(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.4(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.4(F11):c.1304+25_1304+28del rs778294619
NM_000128.4(F11):c.1305-1G>A rs1057517204
NM_000128.4(F11):c.1305-2A>G
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1321del (p.Ile441fs)
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.4(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)
NM_000128.4(F11):c.1351C>T (p.Gln451Ter)
NM_000128.4(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.4(F11):c.1365del (p.Glu456fs)
NM_000128.4(F11):c.1380_1383del (p.Phe460fs) rs1554083736
NM_000128.4(F11):c.1388T>A (p.Val463Asp)
NM_000128.4(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.4(F11):c.1408del (p.Asp470fs)
NM_000128.4(F11):c.1469T>C (p.Val490Ala)
NM_000128.4(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.4(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.4(F11):c.1480+2T>C rs1554083758
NM_000128.4(F11):c.1481-1G>C rs1057516506
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.1481-34G>T rs2289253
NM_000128.4(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.4(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.4(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.4(F11):c.1576+51C>A rs2289254
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.4(F11):c.1633T>C (p.Cys545Arg)
NM_000128.4(F11):c.1634G>A (p.Cys545Tyr)
NM_000128.4(F11):c.1646A>G (p.Tyr549Cys) rs755529772
NM_000128.4(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.4(F11):c.1699G>A (p.Gly567Arg) rs1580108251
NM_000128.4(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.4(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.4(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.4(F11):c.174_175dup (p.Phe59fs)
NM_000128.4(F11):c.1751A>T (p.Asn584Ile) rs773581347
NM_000128.4(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.4(F11):c.1772G>A (p.Gly591Asp)
NM_000128.4(F11):c.1772G>C (p.Gly591Ala) rs1580110270
NM_000128.4(F11):c.1777A>G (p.Thr593Ala) rs1741382224
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.4(F11):c.1822T>C (p.Tyr608His) rs281875255
NM_000128.4(F11):c.1831G>A (p.Val611Met)
NM_000128.4(F11):c.1837G>A (p.Glu613Lys)
NM_000128.4(F11):c.1840T>G (p.Tyr614Asp)
NM_000128.4(F11):c.1852A>G (p.Ile618Val) rs2126791743
NM_000128.4(F11):c.214C>T (p.Arg72Ter)
NM_000128.4(F11):c.218+1G>A rs1057516738
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.4(F11):c.228T>A (p.Cys76Ter)
NM_000128.4(F11):c.230T>C (p.Val77Ala) rs1433941674
NM_000128.4(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.4(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.4(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.4(F11):c.325+1G>T
NM_000128.4(F11):c.343del (p.Tyr115fs) rs1580075457
NM_000128.4(F11):c.38_39del (p.Phe13fs)
NM_000128.4(F11):c.415A>T (p.Arg139Ter)
NM_000128.4(F11):c.434A>C (p.His145Pro)
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.485+1G>T
NM_000128.4(F11):c.485+5G>C rs1173748968
NM_000128.4(F11):c.486-2A>G rs1057516695
NM_000128.4(F11):c.508A>T (p.Thr170Ser)
NM_000128.4(F11):c.55+6T>G rs1739571881
NM_000128.4(F11):c.55+6delinsGAG rs1554081299
NM_000128.4(F11):c.560G>T (p.Gly187Val) rs1740324523
NM_000128.4(F11):c.596-7_600del rs1057517116
NM_000128.4(F11):c.60T>A (p.Cys20Ter)
NM_000128.4(F11):c.614del (p.Phe205fs)
NM_000128.4(F11):c.634G>A (p.Asp212Asn) rs1580080555
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.4(F11):c.668del (p.Ala223fs)
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
NM_000128.4(F11):c.691A>C (p.Thr231Pro)
NM_000128.4(F11):c.717dup (p.Thr240fs)
NM_000128.4(F11):c.719C>T (p.Thr240Ile)
NM_000128.4(F11):c.729_735del (p.Gln244fs)
NM_000128.4(F11):c.738del (p.Trp246fs)
NM_000128.4(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.4(F11):c.752_755+25delinsT
NM_000128.4(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.4(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.4(F11):c.791T>G (p.Leu264Trp)
NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)
NM_000128.4(F11):c.896C>G (p.Thr299Ser)
NM_000128.4(F11):c.89T>C (p.Phe30Ser)
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.90del (p.Phe30fs)
NM_000128.4(F11):c.961_962del (p.Cys321fs) rs786204449
NM_000128.4(F11):c.963C>A (p.Cys321Ter)
NM_000128.4(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.4(F11):c.973G>T (p.Val325Phe) rs764711007
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000128.4(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.4(F11):c.990dup (p.Thr331fs) rs1554082938
NM_000129.3(F13A1):c.-95C>G rs192331652
NM_000129.4(F13A1):c.*102G>A rs541596469
NM_000129.4(F13A1):c.*1135G>A rs933569768
NM_000129.4(F13A1):c.*1167T>G rs886061655
NM_000129.4(F13A1):c.*1455G>C rs1760234417
NM_000129.4(F13A1):c.*417G>T rs886061658
NM_000129.4(F13A1):c.*428C>A rs138139907
NM_000129.4(F13A1):c.*42G>A rs886061659
NM_000129.4(F13A1):c.-18-5dup rs750373197
NM_000129.4(F13A1):c.1112+1G>A
NM_000129.4(F13A1):c.1201dup (p.Gln401fs) rs1290008988
NM_000129.4(F13A1):c.1243G>T (p.Val415Phe) rs121913070
NM_000129.4(F13A1):c.1297T>G (p.Phe433Val) rs1761279176
NM_000129.4(F13A1):c.131_132del rs2113184331
NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter) rs121913066
NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) rs1458190494
NM_000129.4(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs) rs1760997136
NM_000129.4(F13A1):c.1430A>G (p.Asp477Gly)
NM_000129.4(F13A1):c.1731G>C (p.Thr577=) rs137945179
NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter) rs757172838
NM_000129.4(F13A1):c.1817del (p.His606fs) rs1561641262
NM_000129.4(F13A1):c.183C>A (p.Asn61Lys) rs121913067
NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser)
NM_000129.4(F13A1):c.186G>C (p.Lys62Asn) rs2113184204
NM_000129.4(F13A1):c.1909G>A (p.Val637Ile) rs1483793682
NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)
NM_000129.4(F13A1):c.1998A>G (p.Val666=) rs1760383595
NM_000129.4(F13A1):c.2071C>T (p.Gln691Ter)
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000129.4(F13A1):c.2150A>G (p.His717Arg)
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)
NM_000129.4(F13A1):c.27del (p.Phe9fs) rs763797788
NM_000129.4(F13A1):c.327C>T (p.Tyr109=) rs886061661
NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs) rs2113123881
NM_000129.4(F13A1):c.476G>A (p.Arg159His) rs747218826
NM_000129.4(F13A1):c.514C>T (p.Arg172Ter) rs121913065
NM_000129.4(F13A1):c.521G>T (p.Ser174Ile)
NM_000129.4(F13A1):c.523C>T (p.Arg175Ter)
NM_000129.4(F13A1):c.542C>T (p.Thr181Met) rs768849968
NM_000129.4(F13A1):c.563G>T (p.Trp188Leu) rs1561673120
NM_000129.4(F13A1):c.601G>A (p.Glu201Lys)
NM_000129.4(F13A1):c.603_606del (p.Arg202fs) rs1416626948
NM_000129.4(F13A1):c.669del (p.Arg224fs)
NM_000129.4(F13A1):c.680G>A (p.Ser227Asn) rs1757621165
NM_000129.4(F13A1):c.691T>A (p.Phe231Ile)
NM_000129.4(F13A1):c.707T>G (p.Leu236Arg)
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)
NM_000129.4(F13A1):c.728T>C (p.Met243Thr) rs267606788
NM_000129.4(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.4(F13A1):c.787G>A (p.Gly263Arg) rs1414492888
NM_000129.4(F13A1):c.798+2T>C rs1757581465
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)
NM_000129.4(F13A1):c.851A>G (p.Tyr284Cys) rs121913074
NM_000129.4(F13A1):c.888C>G (p.Ser296Arg) rs778181928
NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)
NM_000129.4(F13A1):c.990A>T (p.Gly330=) rs886061660
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.*1699G>T rs537882111
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.1002G>A (p.Arg334=)
NM_000130.5(F5):c.1014A>G (p.Lys338=)
NM_000130.5(F5):c.1029G>A (p.Gln343=)
NM_000130.5(F5):c.1042_1049del (p.Lys348fs) rs2101829195
NM_000130.5(F5):c.1059C>T (p.Phe353=)
NM_000130.5(F5):c.1059del (p.Phe353fs)
NM_000130.5(F5):c.1089T>C (p.Tyr363=)
NM_000130.5(F5):c.108G>A (p.Val36=)
NM_000130.5(F5):c.1107G>A (p.Ala369=)
NM_000130.5(F5):c.1118+12G>C
NM_000130.5(F5):c.1118+13G>A
NM_000130.5(F5):c.1118+14del
NM_000130.5(F5):c.1118+18A>G
NM_000130.5(F5):c.1118+8G>T
NM_000130.5(F5):c.1119-11T>C
NM_000130.5(F5):c.1119-12C>T
NM_000130.5(F5):c.1119-14del
NM_000130.5(F5):c.1119-14dup
NM_000130.5(F5):c.1119-9C>A
NM_000130.5(F5):c.1119-9C>T
NM_000130.5(F5):c.1119-9_1119-8insT
NM_000130.5(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.5(F5):c.112G>A (p.Ala38Thr)
NM_000130.5(F5):c.112G>T (p.Ala38Ser)
NM_000130.5(F5):c.1137T>C (p.His379=)
NM_000130.5(F5):c.1154A>G (p.Asn385Ser)
NM_000130.5(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.5(F5):c.1189_1197del (p.Thr397_Tyr399del)
NM_000130.5(F5):c.1197C>T (p.Tyr399=)
NM_000130.5(F5):c.120C>A (p.Gly40=)
NM_000130.5(F5):c.1224A>G (p.Thr408=)
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
NM_000130.5(F5):c.1282A>G (p.Arg428Gly)
NM_000130.5(F5):c.1284A>T (p.Arg428Ser)
NM_000130.5(F5):c.1296+10A>C
NM_000130.5(F5):c.1296+12A>C
NM_000130.5(F5):c.1296+13A>G
NM_000130.5(F5):c.1297-15G>A
NM_000130.5(F5):c.1297-1G>C
NM_000130.5(F5):c.1297-20A>C
NM_000130.5(F5):c.1297-2A>G rs762646464
NM_000130.5(F5):c.1297-4G>T
NM_000130.5(F5):c.1302G>A (p.Val434=)
NM_000130.5(F5):c.1305C>T (p.Phe435=)
NM_000130.5(F5):c.1313T>C (p.Met438Thr)
NM_000130.5(F5):c.1317C>G (p.Ala439=)
NM_000130.5(F5):c.1321C>G (p.Arg441Gly) rs747006175
NM_000130.5(F5):c.1336T>C (p.Tyr446His)
NM_000130.5(F5):c.1340C>G (p.Pro447Arg) rs368387623
NM_000130.5(F5):c.1345G>T (p.Gly449Ter)
NM_000130.5(F5):c.1356_1363del (p.Phe452fs)
NM_000130.5(F5):c.1359G>A (p.Ser453=)
NM_000130.5(F5):c.1365T>C (p.Tyr455=)
NM_000130.5(F5):c.136C>A (p.Arg46=)
NM_000130.5(F5):c.136C>G (p.Arg46Gly)
NM_000130.5(F5):c.1370A>T (p.Asp457Val)
NM_000130.5(F5):c.1396+18C>G
NM_000130.5(F5):c.1396+18del
NM_000130.5(F5):c.1396+2T>C
NM_000130.5(F5):c.1397-20T>C
NM_000130.5(F5):c.1410C>T (p.Thr470=)
NM_000130.5(F5):c.1412T>C (p.Met471Thr)
NM_000130.5(F5):c.141T>C (p.Pro47=)
NM_000130.5(F5):c.1449T>C (p.Tyr483=)
NM_000130.5(F5):c.1452G>C (p.Lys484Asn)
NM_000130.5(F5):c.1464A>G (p.Leu488=)
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.5(F5):c.149C>T (p.Thr50Ile)
NM_000130.5(F5):c.1512A>G (p.Pro504=)
NM_000130.5(F5):c.1521T>A (p.Ser507Arg)
NM_000130.5(F5):c.1521T>C (p.Ser507=)
NM_000130.5(F5):c.1524C>T (p.Asp508=)
NM_000130.5(F5):c.1538_1539delinsAG (p.Arg513Lys)
NM_000130.5(F5):c.1546G>T (p.Ala516Ser) rs916286148
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
NM_000130.5(F5):c.1563A>G (p.Gly521=)
NM_000130.5(F5):c.156A>G (p.Ser52=)
NM_000130.5(F5):c.1575C>T (p.Ile525=)
NM_000130.5(F5):c.158+16A>C
NM_000130.5(F5):c.158+19C>T
NM_000130.5(F5):c.158+8A>C rs1571608314
NM_000130.5(F5):c.159-15G>A
NM_000130.5(F5):c.159-8A>T
NM_000130.5(F5):c.1592T>C (p.Leu531Pro)
NM_000130.5(F5):c.1609C>T (p.Gln537Ter)
NM_000130.5(F5):c.1611+10C>T
NM_000130.5(F5):c.1611+13T>A
NM_000130.5(F5):c.1611+15A>G
NM_000130.5(F5):c.1611+17G>A
NM_000130.5(F5):c.1612-10T>C
NM_000130.5(F5):c.1612-10dup
NM_000130.5(F5):c.1612-15T>C
NM_000130.5(F5):c.1612-16C>A
NM_000130.5(F5):c.1619C>T (p.Ala540Val)
NM_000130.5(F5):c.1626C>T (p.Ile542=)
NM_000130.5(F5):c.163A>G (p.Asn55Asp)
NM_000130.5(F5):c.1649T>C (p.Val550Ala)
NM_000130.5(F5):c.1662C>T (p.Asn554=)
NM_000130.5(F5):c.1665A>G (p.Lys555=)
NM_000130.5(F5):c.1667G>A (p.Ser556Asn)
NM_000130.5(F5):c.1671G>C (p.Trp557Cys) rs1571578995
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
NM_000130.5(F5):c.1686C>T (p.Asn562=)
NM_000130.5(F5):c.1695G>A (p.Lys565=)
NM_000130.5(F5):c.1700G>A (p.Cys567Tyr)
NM_000130.5(F5):c.171T>C (p.Ser57=)
NM_000130.5(F5):c.1737G>A (p.Lys579=)
NM_000130.5(F5):c.1761C>A (p.Ser587Arg)
NM_000130.5(F5):c.1763-10A>G
NM_000130.5(F5):c.1763-15A>T
NM_000130.5(F5):c.1763-16G>C
NM_000130.5(F5):c.1763-9C>T
NM_000130.5(F5):c.1770T>C (p.Asn590=)
NM_000130.5(F5):c.1772G>C (p.Gly591Ala)
NM_000130.5(F5):c.1773C>T (p.Gly591=)
NM_000130.5(F5):c.1776T>C (p.Tyr592=)
NM_000130.5(F5):c.1777G>T (p.Val593Leu)
NM_000130.5(F5):c.1788C>T (p.Ser596=)
NM_000130.5(F5):c.1797T>C (p.Thr599=)
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.1833C>T (p.His611=)
NM_000130.5(F5):c.1842T>C (p.Ser614=)
NM_000130.5(F5):c.1854G>A (p.Gln618=)
NM_000130.5(F5):c.1869C>T (p.Thr623=)
NM_000130.5(F5):c.1911T>C (p.His637=)
NM_000130.5(F5):c.1920C>T (p.Thr640=)
NM_000130.5(F5):c.1944A>G (p.Gly648=)
NM_000130.5(F5):c.1956G>A (p.Thr652=)
NM_000130.5(F5):c.1956G>C (p.Thr652=)
NM_000130.5(F5):c.1971T>C (p.Asn657=)
NM_000130.5(F5):c.1975+10A>G
NM_000130.5(F5):c.1975+14T>C
NM_000130.5(F5):c.1975+19A>G
NM_000130.5(F5):c.1975+20C>T
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.1976-15G>A
NM_000130.5(F5):c.2009C>G (p.Pro670Arg)
NM_000130.5(F5):c.2016C>A (p.Ser672Arg)
NM_000130.5(F5):c.2021del (p.Lys674fs)
NM_000130.5(F5):c.2025G>A (p.Leu675=)
NM_000130.5(F5):c.2029C>T (p.Leu677=)
NM_000130.5(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.5(F5):c.2067T>C (p.Asp689=)
NM_000130.5(F5):c.2076A>G (p.Ser692=)
NM_000130.5(F5):c.2079T>C (p.Tyr693=)
NM_000130.5(F5):c.2079T>G (p.Tyr693Ter)
NM_000130.5(F5):c.2119C>A (p.Arg707=)
NM_000130.5(F5):c.2136T>A (p.Arg712=)
NM_000130.5(F5):c.2136T>C (p.Arg712=)
NM_000130.5(F5):c.2157G>A (p.Glu719=)
NM_000130.5(F5):c.21C>T (p.Arg7=)
NM_000130.5(F5):c.2200T>C (p.Leu734=)
NM_000130.5(F5):c.2218C>A (p.Arg740=)
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2226A>G (p.Ser742=)
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
NM_000130.5(F5):c.2232G>C (p.Leu744Phe) rs2101820303
NM_000130.5(F5):c.2234A>G (p.Asn745Ser) rs2101820299
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000130.5(F5):c.2247A>C (p.Glu749Asp)
NM_000130.5(F5):c.2248_2250del (p.Glu750del)
NM_000130.5(F5):c.2286T>C (p.Thr762=)
NM_000130.5(F5):c.2292C>T (p.Phe764=)
NM_000130.5(F5):c.22C>T (p.Leu8Phe)
NM_000130.5(F5):c.2313A>T (p.Ile771=)
NM_000130.5(F5):c.2364C>G (p.Val788=)
NM_000130.5(F5):c.2364C>T (p.Val788=)
NM_000130.5(F5):c.2380C>A (p.Pro794Thr)
NM_000130.5(F5):c.2391C>T (p.Ala797=)
NM_000130.5(F5):c.2397T>A (p.Ser799=)
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.240T>C (p.Ser80=)
NM_000130.5(F5):c.2427A>G (p.Pro809=)
NM_000130.5(F5):c.243C>A (p.Thr81=)
NM_000130.5(F5):c.244A>G (p.Ile82Val)
NM_000130.5(F5):c.2465C>T (p.Ser822Phe)
NM_000130.5(F5):c.2490A>G (p.Pro830=)
NM_000130.5(F5):c.250+10A>C
NM_000130.5(F5):c.250+13T>G
NM_000130.5(F5):c.250+18T>C
NM_000130.5(F5):c.251-17A>C
NM_000130.5(F5):c.251-6del
NM_000130.5(F5):c.2511G>A (p.Glu837=)
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
NM_000130.5(F5):c.2521del (p.Gln841fs)
NM_000130.5(F5):c.2532C>T (p.Val844=)
NM_000130.5(F5):c.2538G>A (p.Gly846=)
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.2615del (p.Arg872fs) rs2101819850
NM_000130.5(F5):c.2631G>A (p.Lys877=)
NM_000130.5(F5):c.264T>C (p.Pro88=)
NM_000130.5(F5):c.2658A>G (p.Leu886=)
NM_000130.5(F5):c.2691C>T (p.Asp897=)
NM_000130.5(F5):c.2706C>T (p.Ser902=)
NM_000130.5(F5):c.2715G>A (p.Arg905=)
NM_000130.5(F5):c.2722G>T (p.Glu908Ter)
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
NM_000130.5(F5):c.2745T>C (p.Thr915=)
NM_000130.5(F5):c.2754T>A (p.Pro918=)
NM_000130.5(F5):c.2780del (p.Pro927fs)
NM_000130.5(F5):c.2793G>A (p.Leu931=)
NM_000130.5(F5):c.2799C>T (p.Leu933=)
NM_000130.5(F5):c.2813A>C (p.Asn938Thr)
NM_000130.5(F5):c.2814C>T (p.Asn938=)
NM_000130.5(F5):c.282C>T (p.Val94=)
NM_000130.5(F5):c.2837G>T (p.Arg946Ile) rs2101819634
NM_000130.5(F5):c.2838A>G (p.Arg946=)
NM_000130.5(F5):c.2846del (p.Leu949fs)
NM_000130.5(F5):c.2859A>G (p.Lys953=)
NM_000130.5(F5):c.286G>C (p.Asp96His)
NM_000130.5(F5):c.2883T>C (p.Asp961=)
NM_000130.5(F5):c.288C>T (p.Asp96=)
NM_000130.5(F5):c.2898A>G (p.Thr966=)
NM_000130.5(F5):c.2925C>G (p.Pro975=)
NM_000130.5(F5):c.2943T>C (p.Ala981=)
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
NM_000130.5(F5):c.2957C>T (p.Thr986Ile)
NM_000130.5(F5):c.2988T>G (p.Ser996Arg)
NM_000130.5(F5):c.2991C>G (p.Gly997=)
NM_000130.5(F5):c.3000G>A (p.Lys1000=)
NM_000130.5(F5):c.3012del (p.Arg1005fs)
NM_000130.5(F5):c.3027A>G (p.Leu1009=)
NM_000130.5(F5):c.3072G>A (p.Gln1024=)
NM_000130.5(F5):c.3078C>G (p.Leu1026=)
NM_000130.5(F5):c.3081T>C (p.Ile1027=)
NM_000130.5(F5):c.3084G>A (p.Lys1028=)
NM_000130.5(F5):c.3087A>G (p.Thr1029=)
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
NM_000130.5(F5):c.3105G>A (p.Glu1035=)
NM_000130.5(F5):c.3120T>C (p.His1040=) rs1571574660
NM_000130.5(F5):c.3135G>A (p.Pro1045=) rs760055896
NM_000130.5(F5):c.315G>A (p.Lys105=)
NM_000130.5(F5):c.3165C>A (p.Ala1055=)
NM_000130.5(F5):c.3168C>T (p.Tyr1056=)
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs) rs1571574574
NM_000130.5(F5):c.3195G>A (p.Lys1065=)
NM_000130.5(F5):c.3201G>A (p.Ser1067=)
NM_000130.5(F5):c.3252G>A (p.Gln1084=)
NM_000130.5(F5):c.3255A>G (p.Thr1085=)
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.3288A>G (p.Ser1096=) rs1571574424
NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr) rs886045548
NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr) rs188882337
NM_000130.5(F5):c.3322del (p.Thr1108fs)
NM_000130.5(F5):c.3327T>G (p.Gly1109=)
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.333C>T (p.Ser111=)
NM_000130.5(F5):c.3345A>T (p.Pro1115=)
NM_000130.5(F5):c.3362T>G (p.Val1121Gly)
NM_000130.5(F5):c.3363G>T (p.Val1121=)
NM_000130.5(F5):c.3380A>G (p.Tyr1127Cys)
NM_000130.5(F5):c.3382C>A (p.Gln1128Lys)
NM_000130.5(F5):c.3387A>C (p.Thr1129=)
NM_000130.5(F5):c.33G>T (p.Leu11=)
NM_000130.5(F5):c.3417C>T (p.His1139=)
NM_000130.5(F5):c.3423T>A (p.Thr1141=)
NM_000130.5(F5):c.3429C>T (p.Asp1143=)
NM_000130.5(F5):c.3430C>T (p.Pro1144Ser)
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala) rs543751483
NM_000130.5(F5):c.3456G>A (p.Glu1152=)
NM_000130.5(F5):c.3473A>T (p.Glu1158Val)
NM_000130.5(F5):c.3483A>G (p.Arg1161=)
NM_000130.5(F5):c.3495C>G (p.Ser1165=)
NM_000130.5(F5):c.3531A>T (p.Ser1177=)
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
NM_000130.5(F5):c.3552A>G (p.Thr1184=)
NM_000130.5(F5):c.3558C>A (p.Ile1186=)
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer) rs2101818861
NM_000130.5(F5):c.357C>G (p.Tyr119Ter)
NM_000130.5(F5):c.3582C>G (p.Thr1194=)
NM_000130.5(F5):c.3582C>T (p.Thr1194=)
NM_000130.5(F5):c.3585C>G (p.Leu1195=)
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.3611T>G (p.Leu1204Arg)
NM_000130.5(F5):c.3618A>G (p.Pro1206=)
NM_000130.5(F5):c.3621C>T (p.Asp1207=)
NM_000130.5(F5):c.3624C>G (p.Leu1208=)
NM_000130.5(F5):c.3624C>T (p.Leu1208=)
NM_000130.5(F5):c.3633G>A (p.Thr1211=)
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
NM_000130.5(F5):c.3663C>T (p.Asn1221=)
NM_000130.5(F5):c.3674C>A (p.Ala1225Asp) rs2101818750
NM_000130.5(F5):c.3678C>T (p.Leu1226=)
NM_000130.5(F5):c.3690C>T (p.Pro1230=)
NM_000130.5(F5):c.3691A>C (p.Ile1231Leu) rs1338927825
NM_000130.5(F5):c.3697CCAGACCTCAGCCATACAACCCTTTCT[1] (p.1233PDLSHTTLS[1])
NM_000130.5(F5):c.369A>T (p.Ser123=)
NM_000130.5(F5):c.373+16T>C
NM_000130.5(F5):c.373+1G>A
NM_000130.5(F5):c.373+9A>T
NM_000130.5(F5):c.3739A>G (p.Thr1247Ala)
NM_000130.5(F5):c.374-17G>A
NM_000130.5(F5):c.374-19A>T
NM_000130.5(F5):c.374-2del
NM_000130.5(F5):c.374-6C>T
NM_000130.5(F5):c.374G>A (p.Gly125Asp) rs760694648
NM_000130.5(F5):c.3768A>G (p.Thr1256=)
NM_000130.5(F5):c.3771C>T (p.Asn1257=)
NM_000130.5(F5):c.378T>C (p.Ala126=)
NM_000130.5(F5):c.3799del (p.Leu1267fs)
NM_000130.5(F5):c.3813C>G (p.Leu1271=)
NM_000130.5(F5):c.3821T>C (p.Met1274Thr)
NM_000130.5(F5):c.3824C>T (p.Pro1275Leu)
NM_000130.5(F5):c.3825C>G (p.Pro1275=)
NM_000130.5(F5):c.3840C>T (p.Leu1280=)
NM_000130.5(F5):c.3841A>G (p.Ser1281Gly)
NM_000130.5(F5):c.3852C>A (p.Thr1284=)
NM_000130.5(F5):c.3859C>T (p.Leu1287=)
NM_000130.5(F5):c.3865T>C (p.Phe1289Leu) rs781371990
NM_000130.5(F5):c.3900T>C (p.His1300=)
NM_000130.5(F5):c.3909C>G (p.Leu1303=)
NM_000130.5(F5):c.3909C>T (p.Leu1303=)
NM_000130.5(F5):c.3910_3913del (p.Ser1304fs)
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs) rs2101818393
NM_000130.5(F5):c.3936T>C (p.Leu1312=)
NM_000130.5(F5):c.3942A>G (p.Pro1314=)
NM_000130.5(F5):c.3951T>C (p.Gly1317=)
NM_000130.5(F5):c.3951T>G (p.Gly1317=)
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu) rs112331368
NM_000130.5(F5):c.396A>T (p.Thr132=)
NM_000130.5(F5):c.3987C>A (p.Thr1329=)
NM_000130.5(F5):c.3987C>T (p.Thr1329=)
NM_000130.5(F5):c.3995T>C (p.Leu1332Pro) rs1241060030
NM_000130.5(F5):c.399C>T (p.Phe133=)
NM_000130.5(F5):c.4000T>C (p.Phe1334Leu) rs147741798
NM_000130.5(F5):c.4013A>C (p.Asn1338Thr) rs1418336095
NM_000130.5(F5):c.4013A>T (p.Asn1338Ile)
NM_000130.5(F5):c.4014C>T (p.Asn1338=)
NM_000130.5(F5):c.4020T>C (p.Ser1340=)
NM_000130.5(F5):c.4023A>T (p.Pro1341=)
NM_000130.5(F5):c.402T>C (p.Pro134=)
NM_000130.5(F5):c.404C>T (p.Ala135Val)
NM_000130.5(F5):c.404_405delinsTA (p.Ala135Val)
NM_000130.5(F5):c.4068C>T (p.Pro1356=)
NM_000130.5(F5):c.4072T>C (p.Ser1358Pro)
NM_000130.5(F5):c.4082C>T (p.Pro1361Leu) rs200676405
NM_000130.5(F5):c.4083C>A (p.Pro1361=)
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
NM_000130.5(F5):c.4085G>C (p.Ser1362Thr)
NM_000130.5(F5):c.4089T>C (p.His1363=)
NM_000130.5(F5):c.4096del (p.Leu1366fs) rs1659825695
NM_000130.5(F5):c.4102C>T (p.Leu1368=)
NM_000130.5(F5):c.4113C>T (p.Ser1371=)
NM_000130.5(F5):c.4125C>G (p.Leu1375=)
NM_000130.5(F5):c.413dup (p.Met138fs)
NM_000130.5(F5):c.4143G>A (p.Gln1381=)
NM_000130.5(F5):c.4146A>T (p.Thr1382=)
NM_000130.5(F5):c.4161C>T (p.Asp1387=)
NM_000130.5(F5):c.4162C>G (p.Leu1388Val)
NM_000130.5(F5):c.4172T>C (p.Met1391Thr) rs771458343
NM_000130.5(F5):c.4179C>T (p.Leu1393=)
NM_000130.5(F5):c.4205_4209dup (p.Pro1404fs)
NM_000130.5(F5):c.4206T>C (p.Leu1402=)
NM_000130.5(F5):c.420C>T (p.Asp140=)
NM_000130.5(F5):c.4218C>T (p.Leu1406=)
NM_000130.5(F5):c.4221C>T (p.Asp1407=)
NM_000130.5(F5):c.4242C>T (p.Asp1414=) rs759737015
NM_000130.5(F5):c.425T>C (p.Val142Ala)
NM_000130.5(F5):c.4269C>T (p.Asn1423=)
NM_000130.5(F5):c.4273G>A (p.Gly1425Ser)
NM_000130.5(F5):c.4281G>A (p.Met1427Ile)
NM_000130.5(F5):c.4285C>A (p.Leu1429Ile)
NM_000130.5(F5):c.4290C>T (p.Ser1430=)
NM_000130.5(F5):c.4291C>G (p.Pro1431Ala)
NM_000130.5(F5):c.4297C>T (p.Leu1433Phe) rs2101817787
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
NM_000130.5(F5):c.4339C>T (p.Leu1447Phe)
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg) rs751749207
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4371T>C (p.Pro1457=)
NM_000130.5(F5):c.4397C>A (p.Pro1466His)
NM_000130.5(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000130.5(F5):c.4404A>G (p.Glu1468=)
NM_000130.5(F5):c.4409G>A (p.Ser1470Asn)
NM_000130.5(F5):c.4410T>C (p.Ser1470=)
NM_000130.5(F5):c.4437T>C (p.Asn1479=)
NM_000130.5(F5):c.444C>T (p.Tyr148=)
NM_000130.5(F5):c.4452T>C (p.Tyr1484=)
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
NM_000130.5(F5):c.4476T>C (p.Ser1492=)
NM_000130.5(F5):c.4494C>T (p.Leu1498=)
NM_000130.5(F5):c.4497T>C (p.Asn1499=)
NM_000130.5(F5):c.4509A>G (p.Leu1503=)
NM_000130.5(F5):c.450T>C (p.Tyr150=)
NM_000130.5(F5):c.4520T>A (p.Phe1507Tyr)
NM_000130.5(F5):c.4528C>T (p.Leu1510=)
NM_000130.5(F5):c.4534A>G (p.Ile1512Val)
NM_000130.5(F5):c.4542C>T (p.Gly1514=)
NM_000130.5(F5):c.4554T>C (p.Asp1518=)
NM_000130.5(F5):c.4590G>A (p.Glu1530=)
NM_000130.5(F5):c.4596G>A (p.Gln1532=)
NM_000130.5(F5):c.4599C>T (p.Ser1533=)
NM_000130.5(F5):c.4633C>A (p.Pro1545Thr) rs1571572391
NM_000130.5(F5):c.4638T>C (p.Tyr1546=)
NM_000130.5(F5):c.4656T>C (p.Thr1552=)
NM_000130.5(F5):c.4662T>C (p.Val1554=)
NM_000130.5(F5):c.4671C>T (p.Asn1557=)
NM_000130.5(F5):c.4676A>G (p.Asn1559Ser)
NM_000130.5(F5):c.4695C>T (p.Asp1565=)
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
NM_000130.5(F5):c.470A>G (p.Asp157Gly)
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.4755T>A (p.Ala1585=)
NM_000130.5(F5):c.4778A>T (p.Tyr1593Phe)
NM_000130.5(F5):c.4796+11T>G
NM_000130.5(F5):c.4796+15C>T
NM_000130.5(F5):c.4796+17C>T
NM_000130.5(F5):c.4796+3T>C
NM_000130.5(F5):c.4797-12T>C
NM_000130.5(F5):c.4797-13A>G
NM_000130.5(F5):c.4797-17T>C
NM_000130.5(F5):c.4797-19A>T
NM_000130.5(F5):c.4797-8T>G
NM_000130.5(F5):c.4813G>C (p.Asp1605His)
NM_000130.5(F5):c.4819G>C (p.Asp1607His)
NM_000130.5(F5):c.4836T>C (p.Asp1612=)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000130.5(F5):c.4872C>T (p.Leu1624=)
NM_000130.5(F5):c.4876del (p.Ser1626fs)
NM_000130.5(F5):c.4878C>T (p.Ser1626=)
NM_000130.5(F5):c.4891C>T (p.Arg1631Cys)
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
NM_000130.5(F5):c.4905G>A (p.Gly1635=)
NM_000130.5(F5):c.492C>T (p.Asp164=)
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu) rs886045546
NM_000130.5(F5):c.4962_4971+3del
NM_000130.5(F5):c.4971+10T>C
NM_000130.5(F5):c.4971+11del
NM_000130.5(F5):c.4971+17C>G
NM_000130.5(F5):c.4972-15C>T
NM_000130.5(F5):c.4972-18G>A
NM_000130.5(F5):c.4989A>G (p.Leu1663=)
NM_000130.5(F5):c.4992A>T (p.Ala1664=)
NM_000130.5(F5):c.5022del (p.Leu1675fs) rs2101811710
NM_000130.5(F5):c.5037dup (p.Ser1680fs) rs754982088
NM_000130.5(F5):c.504C>T (p.Leu168=)
NM_000130.5(F5):c.5053A>T (p.Thr1685Ser)
NM_000130.5(F5):c.5058T>C (p.Tyr1686=)
NM_000130.5(F5):c.5076A>G (p.Glu1692=)
NM_000130.5(F5):c.5086G>T (p.Glu1696Ter)
NM_000130.5(F5):c.5094T>C (p.Asn1698=)
NM_000130.5(F5):c.5100T>C (p.Val1700=)
NM_000130.5(F5):c.510C>T (p.His170=)
NM_000130.5(F5):c.5112C>T (p.Ser1704=)
NM_000130.5(F5):c.5142G>A (p.Glu1714=)
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
NM_000130.5(F5):c.5144G>A (p.Arg1715Gln) rs1194089741
NM_000130.5(F5):c.5151G>T (p.Gly1717=)
NM_000130.5(F5):c.5208+10T>C
NM_000130.5(F5):c.5208+14T>C
NM_000130.5(F5):c.5208+16G>C
NM_000130.5(F5):c.5209-10G>C
NM_000130.5(F5):c.5209-12_5209-11del rs886045545
NM_000130.5(F5):c.5209-13T>C
NM_000130.5(F5):c.5209-20A>T
NM_000130.5(F5):c.5209-2A>G
NM_000130.5(F5):c.5220T>C (p.Ile1740=)
NM_000130.5(F5):c.522C>T (p.Ser174=) rs777533725
NM_000130.5(F5):c.5244C>T (p.Leu1748=)
NM_000130.5(F5):c.5256A>G (p.Gln1752=)
NM_000130.5(F5):c.5261del (p.Gly1754fs)
NM_000130.5(F5):c.5308G>A (p.Val1770Ile) rs374815777
NM_000130.5(F5):c.5316A>C (p.Leu1772=)
NM_000130.5(F5):c.5325C>T (p.Thr1775=)
NM_000130.5(F5):c.537C>T (p.Ile179=)
NM_000130.5(F5):c.5383A>C (p.Thr1795Pro)
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs) rs2101810760
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000130.5(F5):c.5403dup (p.Ser1802fs) rs757917115
NM_000130.5(F5):c.5419+11C>G rs6008
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.5419+11_5419+12inv
NM_000130.5(F5):c.5419+19G>C
NM_000130.5(F5):c.5419+7T>C
NM_000130.5(F5):c.541G>T (p.Asp181Tyr)
NM_000130.5(F5):c.5420-14C>G
NM_000130.5(F5):c.5420-63_5554delinsG
NM_000130.5(F5):c.5453del (p.Leu1818fs)
NM_000130.5(F5):c.5454G>A (p.Leu1818=)
NM_000130.5(F5):c.5454G>C (p.Leu1818=)
NM_000130.5(F5):c.5502C>T (p.Gly1834=)
NM_000130.5(F5):c.5511A>G (p.Gln1837=)
NM_000130.5(F5):c.5520C>T (p.His1840=)
NM_000130.5(F5):c.552G>A (p.Ser184=)
NM_000130.5(F5):c.5535C>T (p.His1845=)
NM_000130.5(F5):c.5541G>A (p.Gln1847=) rs1571564181
NM_000130.5(F5):c.5544C>T (p.Thr1848=)
NM_000130.5(F5):c.5571C>T (p.His1857=)
NM_000130.5(F5):c.5594T>G (p.Leu1865Arg) rs1659497927
NM_000130.5(F5):c.5599+15A>G
NM_000130.5(F5):c.5599+8T>C
NM_000130.5(F5):c.5600-16_5600-14del
NM_000130.5(F5):c.5600-8del
NM_000130.5(F5):c.5601T>C (p.Gly1867=)
NM_000130.5(F5):c.5606T>G (p.Phe1869Cys)
NM_000130.5(F5):c.5628A>G (p.Ala1876=)
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
NM_000130.5(F5):c.5646G>A (p.Trp1882Ter) rs1557908012
NM_000130.5(F5):c.5649C>T (p.Leu1883=)
NM_000130.5(F5):c.564G>A (p.Gly188=)
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.5(F5):c.5650C>T (p.Leu1884=)
NM_000130.5(F5):c.5652A>C (p.Leu1884=)
NM_000130.5(F5):c.5658A>C (p.Thr1886=)
NM_000130.5(F5):c.5665G>A (p.Gly1889Arg)
NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)
NM_000130.5(F5):c.5689C>A (p.Gln1897Lys)
NM_000130.5(F5):c.5694G>A (p.Thr1898=)
NM_000130.5(F5):c.5716+10G>A
NM_000130.5(F5):c.5716+16T>C
NM_000130.5(F5):c.5716+20A>G
NM_000130.5(F5):c.5717-13_5717-12del
NM_000130.5(F5):c.5717-14T>C
NM_000130.5(F5):c.5717-14del
NM_000130.5(F5):c.5717-14dup
NM_000130.5(F5):c.5717-20T>C
NM_000130.5(F5):c.5717-4A>C
NM_000130.5(F5):c.5717-4A>G
NM_000130.5(F5):c.5717-6dup
NM_000130.5(F5):c.5721T>C (p.Cys1907=) rs886045543
NM_000130.5(F5):c.5737C>T (p.Leu1913=)
NM_000130.5(F5):c.573T>C (p.Leu191=)
NM_000130.5(F5):c.5780A>G (p.Glu1927Gly) rs1659399281
NM_000130.5(F5):c.5789-1G>A
NM_000130.5(F5):c.5789-1G>T
NM_000130.5(F5):c.5789-7A>C rs1659369778
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
NM_000130.5(F5):c.5816T>G (p.Leu1939Ter)
NM_000130.5(F5):c.5835T>C (p.Tyr1945=)
NM_000130.5(F5):c.586+12C>T
NM_000130.5(F5):c.586+14dup
NM_000130.5(F5):c.586+15A>C
NM_000130.5(F5):c.586+15A>G
NM_000130.5(F5):c.586+15del
NM_000130.5(F5):c.586+5G>A
NM_000130.5(F5):c.587-12T>C
NM_000130.5(F5):c.587-16G>A
NM_000130.5(F5):c.587-16_587-15del
NM_000130.5(F5):c.587-17T>C
NM_000130.5(F5):c.587-19C>T
NM_000130.5(F5):c.587-5C>G
NM_000130.5(F5):c.587-5C>T
NM_000130.5(F5):c.587-8T>C
NM_000130.5(F5):c.5892+11A>C
NM_000130.5(F5):c.5893-10T>C
NM_000130.5(F5):c.5893-17G>A
NM_000130.5(F5):c.5893-4G>A
NM_000130.5(F5):c.5893-5T>G
NM_000130.5(F5):c.5949C>T (p.His1983=)
NM_000130.5(F5):c.597_598del (p.Glu200fs)
NM_000130.5(F5):c.5982T>C (p.Tyr1994=)
NM_000130.5(F5):c.6010T>C (p.Trp2004Arg) rs2101806568
NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)
NM_000130.5(F5):c.6048+19A>G
NM_000130.5(F5):c.6048+5G>T
NM_000130.5(F5):c.6048G>A (p.Met2016Ile)
NM_000130.5(F5):c.6049-14C>T
NM_000130.5(F5):c.6066A>G (p.Ser2022=)
NM_000130.5(F5):c.6117A>G (p.Arg2039=)
NM_000130.5(F5):c.6122T>G (p.Ile2041Ser) rs1364834534
NM_000130.5(F5):c.612G>A (p.Gln204=)
NM_000130.5(F5):c.6150C>T (p.Asn2050=)
NM_000130.5(F5):c.6171A>G (p.Glu2057=)
NM_000130.5(F5):c.6182G>A (p.Cys2061Tyr)
NM_000130.5(F5):c.618G>A (p.Thr206=)
NM_000130.5(F5):c.6193+11A>G
NM_000130.5(F5):c.6193+15T>C
NM_000130.5(F5):c.6193+15T>G
NM_000130.5(F5):c.6193+16G>A
NM_000130.5(F5):c.6193+19T>C
NM_000130.5(F5):c.6193+1G>A
NM_000130.5(F5):c.6194-19G>A
NM_000130.5(F5):c.6194-20C>A rs6013
NM_000130.5(F5):c.6194-20C>T
NM_000130.5(F5):c.6222T>C (p.Asn2074=)
NM_000130.5(F5):c.623A>G (p.Asp208Gly)
NM_000130.5(F5):c.624C>T (p.Asp208=)
NM_000130.5(F5):c.6258G>A (p.Ser2086=)
NM_000130.5(F5):c.6285C>T (p.Tyr2095=)
NM_000130.5(F5):c.6294C>T (p.Pro2098=)
NM_000130.5(F5):c.6303C>G (p.Ala2101=)
NM_000130.5(F5):c.6312T>C (p.Asn2104=)
NM_000130.5(F5):c.633C>T (p.Ile211=)
NM_000130.5(F5):c.6345+11C>G
NM_000130.5(F5):c.6345+13C>G
NM_000130.5(F5):c.6345+13C>T
NM_000130.5(F5):c.6345+16T>C
NM_000130.5(F5):c.6345+16T>G
NM_000130.5(F5):c.6345+9T>C
NM_000130.5(F5):c.6346-4A>G
NM_000130.5(F5):c.6346-5C>T
NM_000130.5(F5):c.6346-9T>C
NM_000130.5(F5):c.636G>A (p.Val212=)
NM_000130.5(F5):c.6381A>G (p.Leu2127=)
NM_000130.5(F5):c.6384C>G (p.Leu2128=)
NM_000130.5(F5):c.6396G>A (p.Lys2132=)
NM_000130.5(F5):c.639A>G (p.Leu213=)
NM_000130.5(F5):c.6417G>A (p.Gln2139=)
NM_000130.5(F5):c.6435C>A (p.Ser2145=)
NM_000130.5(F5):c.6435C>T (p.Ser2145=)
NM_000130.5(F5):c.6438T>C (p.Ser2146=)
NM_000130.5(F5):c.6489A>G (p.Glu2163=)
NM_000130.5(F5):c.6504G>A (p.Arg2168=)
NM_000130.5(F5):c.6516C>T (p.Ser2172=)
NM_000130.5(F5):c.6528+17G>T
NM_000130.5(F5):c.6528+9G>A
NM_000130.5(F5):c.6528G>C (p.Lys2176Asn)
NM_000130.5(F5):c.6529-11T>C
NM_000130.5(F5):c.6529-12T>C
NM_000130.5(F5):c.653T>C (p.Phe218Ser)
NM_000130.5(F5):c.6579C>T (p.Asn2193=)
NM_000130.5(F5):c.6604C>T (p.Arg2202Cys)
NM_000130.5(F5):c.6621A>G (p.Thr2207=)
NM_000130.5(F5):c.6622T>C (p.Trp2208Arg)
NM_000130.5(F5):c.6629A>T (p.Gln2210Leu) rs886045541
NM_000130.5(F5):c.6645C>T (p.Arg2215=)
NM_000130.5(F5):c.6651A>G (p.Glu2217=)
NM_000130.5(F5):c.6657T>C (p.Phe2219=)
NM_000130.5(F5):c.6658G>T (p.Gly2220Cys)
NM_000130.5(F5):c.6660C>T (p.Gly2220=)
NM_000130.5(F5):c.681A>G (p.Ser227=)
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
NM_000130.5(F5):c.702C>T (p.Val234=)
NM_000130.5(F5):c.705T>C (p.Asn235=)
NM_000130.5(F5):c.708A>T (p.Gly236=)
NM_000130.5(F5):c.711T>C (p.Tyr237=)
NM_000130.5(F5):c.713T>A (p.Val238Glu)
NM_000130.5(F5):c.72A>G (p.Gln24=)
NM_000130.5(F5):c.730+10G>C
NM_000130.5(F5):c.730+15G>T
NM_000130.5(F5):c.730+8G>A
NM_000130.5(F5):c.731-10T>A
NM_000130.5(F5):c.731-11C>T
NM_000130.5(F5):c.731-13C>T
NM_000130.5(F5):c.731-15C>T
NM_000130.5(F5):c.731-2A>T
NM_000130.5(F5):c.731-9C>A
NM_000130.5(F5):c.731-9C>G
NM_000130.5(F5):c.731-9C>T
NM_000130.5(F5):c.747C>A (p.Ala249=)
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802
NM_000130.5(F5):c.783C>T (p.Ser261=)
NM_000130.5(F5):c.786G>A (p.Ser262=)
NM_000130.5(F5):c.795A>G (p.Glu265=)
NM_000130.5(F5):c.826C>T (p.Leu276=)
NM_000130.5(F5):c.843T>C (p.His281=)
NM_000130.5(F5):c.849C>G (p.Val283=)
NM_000130.5(F5):c.84G>A (p.Ala28=)
NM_000130.5(F5):c.861C>A (p.Thr287=)
NM_000130.5(F5):c.87A>G (p.Ala29=)
NM_000130.5(F5):c.883A>G (p.Thr295Ala)
NM_000130.5(F5):c.906A>G (p.Pro302=)
NM_000130.5(F5):c.933C>T (p.Leu311=)
NM_000130.5(F5):c.937C>G (p.Pro313Ala)
NM_000130.5(F5):c.93A>T (p.Leu31=)
NM_000130.5(F5):c.952+10T>A
NM_000130.5(F5):c.952+12T>C
NM_000130.5(F5):c.952+16G>A
NM_000130.5(F5):c.952+16G>T
NM_000130.5(F5):c.952+18C>T
NM_000130.5(F5):c.953-10C>T
NM_000130.5(F5):c.953-13T>C
NM_000130.5(F5):c.953-1G>A
NM_000130.5(F5):c.953-20G>A
NM_000130.5(F5):c.957G>C (p.Gly319=)
NM_000130.5(F5):c.966T>A (p.Ala322=)
NM_000130.5(F5):c.971T>C (p.Ile324Thr)
NM_000130.5(F5):c.986G>A (p.Cys329Tyr) rs574459300
NM_000130.5(F5):c.987C>A (p.Cys329Ter)
NM_000130.5(F5):c.993G>A (p.Lys331=)
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000131.4(F7):c.-60T>C
NM_000131.4(F7):c.-96C>A
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.4(F8):c.*1017C>A rs1603430909
NM_000132.4(F8):c.*176G>A rs2072481964
NM_000132.4(F8):c.*862A>G rs1057515824
NM_000132.4(F8):c.*908T>G rs2072478087
NM_000132.4(F8):c.*992A>G rs782499043
NM_000132.4(F8):c.1010-9T>A rs1603435287
NM_000132.4(F8):c.1020A>C (p.Glu340Asp) rs1603435286
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.4(F8):c.102C>G (p.Asp34Glu)
NM_000132.4(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.4(F8):c.1034T>C (p.Val345Ala) rs1189348665
NM_000132.4(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.4(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.4(F8):c.1073dup (p.Asn358fs) rs1603435281
NM_000132.4(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.4(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.4(F8):c.1097A>G (p.Asp366Gly)
NM_000132.4(F8):c.1120del (p.Met374fs)
NM_000132.4(F8):c.1169T>C (p.Ile390Thr) rs2124106062
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.4(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1180del (p.Ala394fs)
NM_000132.4(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.4(F8):c.1202G>A (p.Trp401Ter) rs2073424782
NM_000132.4(F8):c.1203G>A (p.Trp401Ter) rs2124106016
NM_000132.4(F8):c.1213A>T (p.Ile405Phe)
NM_000132.4(F8):c.1214T>C (p.Ile405Thr)
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.4(F8):c.1244C>A (p.Ala415Asp)
NM_000132.4(F8):c.1244C>T (p.Ala415Val)
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.4(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
NM_000132.4(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.4(F8):c.1364T>G (p.Phe455Cys) rs1603435217
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.4(F8):c.1420G>A (p.Gly474Arg)
NM_000132.4(F8):c.143+1116_143+1742del rs2073755958
NM_000132.4(F8):c.1430G>T (p.Gly477Val) rs2124105158
NM_000132.4(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.4(F8):c.143G>A (p.Arg48Lys) rs1261929809
NM_000132.4(F8):c.1443+18T>G rs782583179
NM_000132.4(F8):c.1443+2T>G rs2073420861
NM_000132.4(F8):c.1443+5G>A rs1195283929
NM_000132.4(F8):c.1444-3C>G rs1603435027
NM_000132.4(F8):c.1467_1472dup (p.Arg490_Pro491dup) rs2073393487
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.4(F8):c.1481T>G (p.Ile494Ser) rs137852413
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter) rs2124099224
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1504G>T (p.Val502Phe) rs2073393106
NM_000132.4(F8):c.1506_1516del (p.Arg503fs) rs2124099163
NM_000132.4(F8):c.1538-18G>A rs1482306571
NM_000132.4(F8):c.1538-1G>T rs1414679955
NM_000132.4(F8):c.1571C>T (p.Pro524Leu)
NM_000132.4(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.1621A>T (p.Thr541Ser) rs139526001
NM_000132.4(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1652A>G (p.Tyr551Cys) rs2073368605
NM_000132.4(F8):c.1654T>C (p.Tyr552His) rs1603434863
NM_000132.4(F8):c.1655A>G (p.Tyr552Cys)
NM_000132.4(F8):c.1658C>G (p.Ser553Cys)
NM_000132.4(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.4(F8):c.1696C>T (p.Leu566Phe) rs2124094420
NM_000132.4(F8):c.1701del (p.Ile567fs)
NM_000132.4(F8):c.170_179dup (p.Thr61fs) rs2124149047
NM_000132.4(F8):c.1712T>G (p.Leu571Arg)
NM_000132.4(F8):c.1724A>C (p.Lys575Thr) rs2073367952
NM_000132.4(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.4(F8):c.1727A>T (p.Glu576Val)
NM_000132.4(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.4(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.4(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.4(F8):c.1750del (p.Gln584fs) rs2124094327
NM_000132.4(F8):c.1752+5G>T rs2124094299
NM_000132.4(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.4(F8):c.1784T>C (p.Phe595Ser) rs2073351165
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.4(F8):c.1812G>A (p.Trp604Ter) rs137852426
NM_000132.4(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.4(F8):c.1825A>C (p.Asn609His) rs2073350730
NM_000132.4(F8):c.1830A>G (p.Ile610Met) rs931279960
NM_000132.4(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000132.4(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1898T>G (p.Met633Arg) rs1603434697
NM_000132.4(F8):c.1899G>T (p.Met633Ile)
NM_000132.4(F8):c.1903+5G>A rs2124090120
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.1904-736_2113+2563dup
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.192_193del (p.Tyr65fs)
NM_000132.4(F8):c.1930T>G (p.Leu644Val) rs2124082414
NM_000132.4(F8):c.1941_1944del (p.Leu650fs) rs2124082382
NM_000132.4(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.4(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.4(F8):c.1969T>C (p.Tyr657His) rs2124082280
NM_000132.4(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.4(F8):c.1991A>C (p.Gln664Pro)
NM_000132.4(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
NM_000132.4(F8):c.2043G>C (p.Met681Ile) rs1603434460
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.205_206del (p.Leu69fs) rs1317834655
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
NM_000132.4(F8):c.2099C>T (p.Ser700Leu) rs1359096117
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2101A>G (p.Met701Val) rs2073313804
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.2162T>C (p.Met721Thr) rs1314906579
NM_000132.4(F8):c.2163G>T (p.Met721Ile) rs1218576358
NM_000132.4(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.4(F8):c.225T>A (p.Asp75Glu)
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.2573C>T (p.Pro858Leu) rs2124053040
NM_000132.4(F8):c.2618G>A (p.Gly873Asp) rs2073195544
NM_000132.4(F8):c.2627T>A (p.Leu876Ter) rs2073195449
NM_000132.4(F8):c.262A>G (p.Met88Val) rs782731044
NM_000132.4(F8):c.265+4A>G
NM_000132.4(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.4(F8):c.2712del (p.Ile905fs)
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
NM_000132.4(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.4(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.4(F8):c.2776C>T (p.Pro926Ser) rs2124052509
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2962_2963del (p.Ser988fs) rs387906448
NM_000132.4(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.4(F8):c.296T>C (p.Val99Ala) rs137852382
NM_000132.4(F8):c.2974_2977del (p.Phe992fs) rs2124052011
NM_000132.4(F8):c.2T>A (p.Met1Lys)
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.4(F8):c.308T>C (p.Val103Ala) rs2073621465
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.4(F8):c.3144G>T (p.Trp1048Cys) rs1060499784
NM_000132.4(F8):c.3213G>A (p.Met1071Ile)
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.3247_3248del (p.Met1083fs) rs1603433803
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
NM_000132.4(F8):c.332C>T (p.Ala111Val)
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)
NM_000132.4(F8):c.3465dup (p.Ser1156fs)
NM_000132.4(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.4(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3637dup (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.364_365del (p.Val122fs) rs387906435
NM_000132.4(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.4(F8):c.3744A>T (p.Leu1248Phe) rs2124050282
NM_000132.4(F8):c.3746del (p.Leu1249fs) rs2124050272
NM_000132.4(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.3780del (p.Asp1260fs) rs2124050215
NM_000132.4(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
NM_000132.4(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter) rs2073182544
NM_000132.4(F8):c.4029_4030dup (p.Thr1344fs) rs2124049493
NM_000132.4(F8):c.403G>T (p.Asp135Tyr) rs2073597882
NM_000132.4(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
NM_000132.4(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.412del (p.Ser138fs)
NM_000132.4(F8):c.4148C>G (p.Ala1383Gly)
NM_000132.4(F8):c.4242dup (p.Phe1415fs) rs1360639935
NM_000132.4(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.4(F8):c.4313dup (p.Ser1439fs) rs1603433756
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.437_438del (p.Lys146fs) rs2124141140
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.460A>C (p.Thr154Pro) rs1603436436
NM_000132.4(F8):c.460A>G (p.Thr154Ala) rs1603436436
NM_000132.4(F8):c.461C>T (p.Thr154Ile) rs2073597378
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter) rs2073177296
NM_000132.4(F8):c.4662_4663del (p.Trp1554_Asn1555delinsTer) rs2124048199
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg) rs782791962
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) rs2124048012
NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.4(F8):c.476T>A (p.Val159Asp)
NM_000132.4(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.4(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter) rs137852438
NM_000132.4(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.5005A>G (p.Ile1669Val) rs2124047405
NM_000132.4(F8):c.505G>A (p.Asp169Asn) rs2073596825
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr) rs2073173387
NM_000132.4(F8):c.5096A>G (p.Tyr1699Cys)
NM_000132.4(F8):c.509C>T (p.Pro170Leu) rs2124140933
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.4(F8):c.5132A>C (p.Gln1711Pro)
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5146C>A (p.His1716Asn) rs2073172888
NM_000132.4(F8):c.5149T>C (p.Tyr1717His)
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) rs2124046974
NM_000132.4(F8):c.5164G>A (p.Val1722Met) rs1603433719
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.4(F8):c.5179G>A (p.Asp1727Asn)
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)
NM_000132.4(F8):c.5219+1G>A rs1280131174
NM_000132.4(F8):c.5219+2T>C rs1603433713
NM_000132.4(F8):c.5219G>T (p.Arg1740Met) rs1444273117
NM_000132.4(F8):c.5220-2A>G rs2073039685
NM_000132.4(F8):c.5267A>T (p.Glu1756Val) rs2124000688
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys) rs2124000594
NM_000132.4(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg) rs1168919288
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.4(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.4(F8):c.5374-224_5453delinsT
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) rs1342455699
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) rs2123997982
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.4(F8):c.5483del (p.Pro1828fs) rs2073030045
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)
NM_000132.4(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) rs2123997870
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg) rs2073029867
NM_000132.4(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.4(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.4(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)
NM_000132.4(F8):c.5576A>T (p.Asp1859Val) rs2123997719
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5582A>G (p.Asp1861Gly) rs2123997685
NM_000132.4(F8):c.5586+2T>C
NM_000132.4(F8):c.5586G>A (p.Leu1862=) rs2123997676
NM_000132.4(F8):c.5587-2A>G rs2073027912
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.558C>A (p.Asp186Glu) rs1603436426
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.4(F8):c.55A>C (p.Ser19Arg) rs2124174458
NM_000132.4(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.4(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.4(F8):c.5666A>G (p.Gln1889Arg) rs2123997081
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.4(F8):c.5703C>A (p.Ile1901=) rs782721473
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.4(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.4(F8):c.5724del (p.Trp1908fs) rs2073026512
NM_000132.4(F8):c.575T>C (p.Ile192Thr) rs1448187077
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5816-2A>G rs2123996454
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu) rs2123996355
NM_000132.4(F8):c.5863C>G (p.Gln1955Glu) rs2123996340
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe) rs1411617809
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)
NM_000132.4(F8):c.5896A>C (p.Met1966Leu) rs1603432970
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.5918A>T (p.His1973Leu) rs1273080258
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.4(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.4(F8):c.5939_5940del (p.His1980fs)
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe) rs2073022685
NM_000132.4(F8):c.5994del (p.Pro1999fs)
NM_000132.4(F8):c.5998+1G>T
NM_000132.4(F8):c.5999-2A>C rs2123994187
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) rs1603432913
NM_000132.4(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.4(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.4(F8):c.601G>T (p.Gly201Trp)
NM_000132.4(F8):c.602-2A>G rs2124134457
NM_000132.4(F8):c.6020del (p.Met2007fs) rs2123994155
NM_000132.4(F8):c.6028T>C (p.Ser2010Pro)
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg) rs2073013277
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) rs1444225681
NM_000132.4(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.6057C>A (p.Cys2019Ter)
NM_000132.4(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.4(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.4(F8):c.6082G>A (p.Gly2028Arg) rs1603432908
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.4(F8):c.6115+2T>C
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly) rs2123993603
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) rs2123993600
NM_000132.4(F8):c.6123G>C (p.Gln2041His) rs2123993594
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.4(F8):c.6273G>A (p.Lys2091=) rs2148584915
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6274-2A>G
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser) rs1267586059
NM_000132.4(F8):c.6322G>C (p.Ala2108Pro) rs2148583727
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000132.4(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter) rs2072977865
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.4(F8):c.6362T>A (p.Ile2121Asn)
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.4(F8):c.640T>G (p.Phe214Val) rs2073563995
NM_000132.4(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.4(F8):c.6429+16424_6430-16424inv
NM_000132.4(F8):c.6429+2T>A
NM_000132.4(F8):c.6429+8606G>C rs1603432445
NM_000132.4(F8):c.6434T>C (p.Phe2145Ser)
NM_000132.4(F8):c.6434T>G (p.Phe2145Cys) rs1603431562
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser) rs1603431561
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.650T>C (p.Leu217Pro) rs2124134359
NM_000132.4(F8):c.650T>G (p.Leu217Arg) rs2124134359
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.4(F8):c.6518C>G (p.Thr2173Ser)
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln) rs2148568062
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.4(F8):c.6574+5G>A
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg) rs1603431512
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu) rs2148567338
NM_000132.4(F8):c.65G>A (p.Arg22Lys) rs2073765087
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly) rs2072694107
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.4(F8):c.665A>C (p.Asp222Ala) rs137852396
NM_000132.4(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.4(F8):c.6670_6672del (p.Pro2224del) rs1229477261
NM_000132.4(F8):c.6678del (p.Ala2227fs) rs1273763950
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr) rs1342196860
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro) rs1603431506
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp) rs2072692745
NM_000132.4(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.4(F8):c.670+5G>A
NM_000132.4(F8):c.6709G>A (p.Ala2237Thr)
NM_000132.4(F8):c.6709G>T (p.Ala2237Ser) rs2148567205
NM_000132.4(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.4(F8):c.671-1G>A rs1255271151
NM_000132.4(F8):c.671-2A>G rs2124131475
NM_000132.4(F8):c.671-50_787+50del rs1603436123
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter) rs1377166595
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu) rs1174359623
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6776T>A (p.Val2259Asp) rs1603431479
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro) rs2072682503
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
NM_000132.4(F8):c.6834G>T (p.Glu2278Asp) rs2072682134
NM_000132.4(F8):c.683A>C (p.His228Pro)
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg) rs2072681848
NM_000132.4(F8):c.686C>A (p.Ser229Ter)
NM_000132.4(F8):c.6876_6877del (p.Phe2294fs) rs1356674990
NM_000132.4(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.4(F8):c.6900+1G>C
NM_000132.4(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter) rs2148555597
NM_000132.4(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro) rs137852474
NM_000132.4(F8):c.6975del (p.Arg2326fs) rs2148555575
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter) rs2072484506
NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) rs2072484280
NM_000132.4(F8):c.7033T>C (p.Cys2345Arg)
NM_000132.4(F8):c.745A>T (p.Lys249Ter)
NM_000132.4(F8):c.74A>G (p.Tyr25Cys) rs2124174443
NM_000132.4(F8):c.755C>T (p.Thr252Ile) rs1464962436
NM_000132.4(F8):c.755_756del (p.Thr252fs)
NM_000132.4(F8):c.760A>G (p.Asn254Asp) rs2124131338
NM_000132.4(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.4(F8):c.783del (p.Pro262fs)
NM_000132.4(F8):c.784C>G (p.Pro262Ala)
NM_000132.4(F8):c.787+3A>G rs2073548872
NM_000132.4(F8):c.787+5G>C rs1378662017
NM_000132.4(F8):c.787G>A (p.Gly263Ser)
NM_000132.4(F8):c.788-1G>C rs2073445259
NM_000132.4(F8):c.793A>G (p.Ile265Val) rs2073445187
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.4(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.4(F8):c.836T>G (p.Met279Arg)
NM_000132.4(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.4(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.4(F8):c.853G>A (p.Val285Met) rs2073444412
NM_000132.4(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.4(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.4(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.4(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)
NM_000132.4(F8):c.89A>G (p.Glu30Gly) rs137852378
NM_000132.4(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.4(F8):c.901C>T (p.Arg301Cys) rs1401805753
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.4(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.4(F8):c.923C>G (p.Ser308Trp)
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.940A>C (p.Thr314Pro) rs137852406
NM_000132.4(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.4(F8):c.944C>G (p.Ala315Gly) rs2124109874
NM_000132.4(F8):c.967G>A (p.Gly323Arg) rs2124109849
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000132.4(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4(F8):c.992T>C (p.Ile331Thr) rs2073442480
NM_000132.4:c.3065_3066insL13054_3065dup
NM_000132.4:c.6430_6723del
NM_000133.3:.c.(391+1_392-1)insN[?]
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=)
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
NM_000133.4(F9):c.1005C>G (p.Cys335Trp) rs1928110579
NM_000133.4(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.1010C>T (p.Ala337Val)
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.102T>C (p.His34=)
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.1064G>T (p.Gly355Val) rs137852256
NM_000133.4(F9):c.1067G>A (p.Trp356Ter)
NM_000133.4(F9):c.1068G>A (p.Trp356Ter)
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1070G>A (p.Gly357Glu) rs137852275
NM_000133.4(F9):c.1073G>C (p.Arg358Thr)
NM_000133.4(F9):c.1077C>A (p.Val359=) rs2148367918
NM_000133.4(F9):c.1079T>C (p.Phe360Ser)
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
NM_000133.4(F9):c.1086del (p.Arg364fs)
NM_000133.4(F9):c.1088G>T (p.Gly363Val) rs387906479
NM_000133.4(F9):c.1090A>C (p.Arg364=) rs2148367924
NM_000133.4(F9):c.1094C>G (p.Ser365Ter)
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)
NM_000133.4(F9):c.1112A>G (p.Tyr371Cys)
NM_000133.4(F9):c.1119A>G (p.Arg373=)
NM_000133.4(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.4(F9):c.1128T>G (p.Leu376=)
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.1138G>A (p.Ala380Thr) rs2148367990
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)
NM_000133.4(F9):c.1148T>C (p.Leu383Pro) rs1387119011
NM_000133.4(F9):c.1151G>C (p.Arg384Pro) rs137852283
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.4(F9):c.1161del (p.Lys387fs)
NM_000133.4(F9):c.1164C>T (p.Phe388=) rs2148368027
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
NM_000133.4(F9):c.1180A>G (p.Met394Val) rs137852262
NM_000133.4(F9):c.1182G>A (p.Met394Ile)
NM_000133.4(F9):c.1183T>A (p.Phe395Ile) rs1175050951
NM_000133.4(F9):c.1185C>T (p.Phe395=)
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr)
NM_000133.4(F9):c.1187G>C (p.Cys396Ser) rs137852273
NM_000133.4(F9):c.1189G>C (p.Ala397Pro) rs137852281
NM_000133.4(F9):c.1190C>T (p.Ala397Val)
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
NM_000133.4(F9):c.1206A>T (p.Gly402=)
NM_000133.4(F9):c.1213G>T (p.Asp405Tyr)
NM_000133.4(F9):c.1217C>G (p.Ser406Ter)
NM_000133.4(F9):c.1217C>T (p.Ser406Leu) rs137852263
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
NM_000133.4(F9):c.1228G>C (p.Asp410His) rs137852278
NM_000133.4(F9):c.1230T>C (p.Asp410=)
NM_000133.4(F9):c.1231A>G (p.Ser411Gly) rs137852277
NM_000133.4(F9):c.1232G>T (p.Ser411Ile) rs137852276
NM_000133.4(F9):c.1233T>C (p.Ser411=)
NM_000133.4(F9):c.1235G>A (p.Gly412Glu)
NM_000133.4(F9):c.1235G>C (p.Gly412Ala)
NM_000133.4(F9):c.1240C>A (p.Pro414Thr) rs137852265
NM_000133.4(F9):c.1242C>T (p.Pro414=)
NM_000133.4(F9):c.1249A>G (p.Thr417Ala)
NM_000133.4(F9):c.1251T>C (p.Thr417=)
NM_000133.4(F9):c.1255G>A (p.Val419Met) rs1928127579
NM_000133.4(F9):c.1256T>A (p.Val419Glu) rs137852280
NM_000133.4(F9):c.1257G>A (p.Val419=)
NM_000133.4(F9):c.1272C>A (p.Phe424Leu)
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.1290C>T (p.Ser430=)
NM_000133.4(F9):c.1292G>T (p.Trp431Leu)
NM_000133.4(F9):c.1293G>T (p.Trp431Cys)
NM_000133.4(F9):c.1294G>A (p.Gly432Ser)
NM_000133.4(F9):c.1295G>C (p.Gly432Ala) rs1928130497
NM_000133.4(F9):c.1296T>C (p.Gly432=)
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.1303T>A (p.Cys435Ser)
NM_000133.4(F9):c.1303T>C (p.Cys435Arg)
NM_000133.4(F9):c.1303T>G (p.Cys435Gly)
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) rs1385141619
NM_000133.4(F9):c.1304G>T (p.Cys435Phe)
NM_000133.4(F9):c.1305T>C (p.Cys435=) rs2148368264
NM_000133.4(F9):c.1307C>A (p.Ala436Glu) rs137852266
NM_000133.4(F9):c.1307C>T (p.Ala436Val) rs137852266
NM_000133.4(F9):c.1324G>A (p.Gly442Arg) rs137852267
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) rs1603267474
NM_000133.4(F9):c.1325G>C (p.Gly442Ala)
NM_000133.4(F9):c.1325G>T (p.Gly442Val)
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=)
NM_000133.4(F9):c.1347G>A (p.Arg449=) rs1433326581
NM_000133.4(F9):c.1347G>T (p.Arg449=)
NM_000133.4(F9):c.1357T>C (p.Trp453Arg) rs137852269
NM_000133.4(F9):c.1358G>A (p.Trp453Ter) rs2148368332
NM_000133.4(F9):c.1359G>A (p.Trp453Ter)
NM_000133.4(F9):c.135G>A (p.Lys45=)
NM_000133.4(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.4(F9):c.1372del (p.Thr458fs)
NM_000133.4(F9):c.1377G>A (p.Lys459=)
NM_000133.4(F9):c.1380C>T (p.Leu460=) rs2148368357
NM_000133.4(F9):c.1385A>G (p.Ter462=) rs561793582
NM_000133.4(F9):c.138G>Y (p.Arg46Ser)
NM_000133.4(F9):c.141T>A (p.Tyr47Ter) rs1556435929
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)
NM_000133.4(F9):c.142A>T (p.Asn48Tyr) rs1927493197
NM_000133.4(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.4(F9):c.15C>T (p.Asn5=)
NM_000133.4(F9):c.160G>A (p.Glu54Lys)
NM_000133.4(F9):c.163T>C (p.Phe55Leu) rs759987427
NM_000133.4(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.4(F9):c.177C>T (p.Asn59=)
NM_000133.4(F9):c.182A>G (p.Glu61Gly) rs2148356134
NM_000133.4(F9):c.190T>C (p.Cys64Arg) rs137852224
NM_000133.4(F9):c.191G>A (p.Cys64Tyr) rs1330779541
NM_000133.4(F9):c.194T>C (p.Met65Thr)
NM_000133.4(F9):c.196G>A (p.Glu66Lys) rs1569481975
NM_000133.4(F9):c.201A>G (p.Glu67=)
NM_000133.4(F9):c.211T>C (p.Phe71Leu)
NM_000133.4(F9):c.214G>T (p.Glu72Ter) rs1927498635
NM_000133.4(F9):c.218A>T (p.Glu73Val) rs137852226
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.4(F9):c.231T>G (p.Val77=)
NM_000133.4(F9):c.236A>T (p.Glu79Val)
NM_000133.4(F9):c.237A>C (p.Glu79Asp) rs137852229
NM_000133.4(F9):c.237_247del (p.Thr81fs) rs2148356221
NM_000133.4(F9):c.251C>T (p.Thr84Ile)
NM_000133.4(F9):c.252+12C>T
NM_000133.4(F9):c.252+14C>T
NM_000133.4(F9):c.252+15A>G
NM_000133.4(F9):c.252+16T>C
NM_000133.4(F9):c.252+18A>G
NM_000133.4(F9):c.252+20A>G
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.253-12T>C
NM_000133.4(F9):c.253-1G>C rs1434866164
NM_000133.4(F9):c.253-3T>C
NM_000133.4(F9):c.253-8C>T
NM_000133.4(F9):c.267G>A (p.Lys89=) rs1927507472
NM_000133.4(F9):c.268C>T (p.Gln90Ter)
NM_000133.4(F9):c.271T>A (p.Tyr91Asn) rs1927507602
NM_000133.4(F9):c.277+14T>C
NM_000133.4(F9):c.277+19C>T
NM_000133.4(F9):c.277+1G>A rs1224128266
NM_000133.4(F9):c.277+2T>C rs587776735
NM_000133.4(F9):c.277+5G>A
NM_000133.4(F9):c.277+7A>G
NM_000133.4(F9):c.278-11C>T
NM_000133.4(F9):c.278-12C>T
NM_000133.4(F9):c.278-13A>C
NM_000133.4(F9):c.278-3A>G rs398122990
NM_000133.4(F9):c.278-4A>G
NM_000133.4(F9):c.278A>G (p.Asp93Gly) rs137852230
NM_000133.4(F9):c.27A>C (p.Ala9=)
NM_000133.4(F9):c.280G>A (p.Gly94Arg) rs1556437035
NM_000133.4(F9):c.284A>C (p.Asp95Ala) rs1927589695
NM_000133.4(F9):c.284A>T (p.Asp95Val) rs1927589695
NM_000133.4(F9):c.287A>C (p.Gln96Pro) rs137852231
NM_000133.4(F9):c.294G>A (p.Glu98=)
NM_000133.4(F9):c.302C>A (p.Pro101Gln) rs2148357901
NM_000133.4(F9):c.303A>G (p.Pro101=)
NM_000133.4(F9):c.314G>A (p.Gly105Asp) rs1927590546
NM_000133.4(F9):c.314G>T (p.Gly105Val)
NM_000133.4(F9):c.324C>T (p.Cys108=)
NM_000133.4(F9):c.328G>A (p.Asp110Asn) rs137852274
NM_000133.4(F9):c.329A>G (p.Asp110Gly) rs137852234
NM_000133.4(F9):c.336T>C (p.Ile112=) rs2148357946
NM_000133.4(F9):c.339T>C (p.Asn113=)
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)
NM_000133.4(F9):c.364G>A (p.Gly122Arg) rs770120402
NM_000133.4(F9):c.365G>T (p.Gly122Val) rs1927592770
NM_000133.4(F9):c.368T>C (p.Phe123Ser) rs1927592901
NM_000133.4(F9):c.36A>G (p.Pro12=)
NM_000133.4(F9):c.382T>C (p.Cys128Arg)
NM_000133.4(F9):c.384T>A (p.Cys128Ter) rs780435919
NM_000133.4(F9):c.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT
NM_000133.4(F9):c.391+11A>G
NM_000133.4(F9):c.391+5G>A rs2148358021
NM_000133.4(F9):c.391+5_391+8del rs1927593812
NM_000133.4(F9):c.391+9C>G
NM_000133.4(F9):c.392-20G>A
NM_000133.4(F9):c.392-20_392-17del
NM_000133.4(F9):c.392-7_392-4del rs2148361119
NM_000133.4(F9):c.392del (p.Asp131fs)
NM_000133.4(F9):c.401G>C (p.Cys134Ser) rs1927764839
NM_000133.4(F9):c.402T>C (p.Cys134=)
NM_000133.4(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.4(F9):c.412A>C (p.Asn138His)
NM_000133.4(F9):c.413A>G (p.Asn138Ser) rs2148361153
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs)
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=)
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)
NM_000133.4(F9):c.479G>C (p.Gly160Ala) rs137852235
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.496A>T (p.Asn166Tyr) rs137852236
NM_000133.4(F9):c.499C>T (p.Gln167Ter) rs2148361240
NM_000133.4(F9):c.504G>A (p.Lys168=)
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
NM_000133.4(F9):c.507C>G (p.Ser169=) rs565055999
NM_000133.4(F9):c.517G>A (p.Ala173Thr) rs865782271
NM_000133.4(F9):c.518C>G (p.Ala173Gly)
NM_000133.4(F9):c.519dup (p.Val174fs) rs1556006174
NM_000133.4(F9):c.520+10T>C rs1289621854
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.520+19T>C
NM_000133.4(F9):c.520G>A (p.Val174Met) rs1603265504
NM_000133.4(F9):c.521-10A>G rs1603265768
NM_000133.4(F9):c.521-11T>C
NM_000133.4(F9):c.521-12C>T
NM_000133.4(F9):c.521-13T>C
NM_000133.4(F9):c.521-17T>C
NM_000133.4(F9):c.521-35_723+84del rs1603265760
NM_000133.4(F9):c.521-5del rs1320990506
NM_000133.4(F9):c.521-7T>C
NM_000133.4(F9):c.522G>A (p.Val174=) rs2148362379
NM_000133.4(F9):c.52T>C (p.Cys18Arg) rs387906474
NM_000133.4(F9):c.532T>C (p.Cys178Arg) rs2148362390
NM_000133.4(F9):c.540_541del (p.Arg180fs) rs587776736
NM_000133.4(F9):c.541G>T (p.Val181Phe) rs387906477
NM_000133.4(F9):c.545_546del (p.Ser182fs) rs1433656857
NM_000133.4(F9):c.555A>G (p.Gln185=)
NM_000133.4(F9):c.558T>G (p.Thr186=)
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=)
NM_000133.4(F9):c.582T>C (p.Thr194=)
NM_000133.4(F9):c.584T>A (p.Val195Asp) rs374674030
NM_000133.4(F9):c.584T>G (p.Val195Gly)
NM_000133.4(F9):c.589C>T (p.Pro197Ser)
NM_000133.4(F9):c.603T>C (p.Tyr201=)
NM_000133.4(F9):c.612T>C (p.Ser204=) rs1199474371
NM_000133.4(F9):c.615T>C (p.Thr205=) rs2148362491
NM_000133.4(F9):c.621T>C (p.Ala207=) rs1307382807
NM_000133.4(F9):c.655C>T (p.Gln219Ter) rs137852239
NM_000133.4(F9):c.659C>A (p.Ser220Ter)
NM_000133.4(F9):c.676C>A (p.Arg226=)
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.677G>A (p.Arg226Gln) rs137852241
NM_000133.4(F9):c.682G>T (p.Val228Phe) rs137852243
NM_000133.4(F9):c.689G>C (p.Gly230Ala)
NM_000133.4(F9):c.68T>C (p.Leu23Pro)
NM_000133.4(F9):c.697G>A (p.Ala233Thr) rs387906478
NM_000133.4(F9):c.699C>T (p.Ala233=)
NM_000133.4(F9):c.704C>A (p.Pro235Gln) rs2148362579
NM_000133.4(F9):c.709C>T (p.Gln237Ter) rs137852244
NM_000133.4(F9):c.710A>T (p.Gln237Leu) rs137852245
NM_000133.4(F9):c.718T>G (p.Trp240Gly) rs1390220758
NM_000133.4(F9):c.719G>A (p.Trp240Ter) rs1603265827
NM_000133.4(F9):c.720G>A (p.Trp240Ter) rs1603265830
NM_000133.4(F9):c.723+11C>T
NM_000133.4(F9):c.723+14A>T
NM_000133.4(F9):c.723+15T>C
NM_000133.4(F9):c.723+1G>T rs1603265832
NM_000133.4(F9):c.723G>A (p.Gln241=)
NM_000133.4(F9):c.724-5_731del rs1603267163
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.732G>A (p.Leu244=)
NM_000133.4(F9):c.735T>C (p.Asn245=)
NM_000133.4(F9):c.735del (p.Asn245fs)
NM_000133.4(F9):c.738T>C (p.Gly246=)
NM_000133.4(F9):c.742del (p.Val248fs)
NM_000133.4(F9):c.744T>A (p.Val248=)
NM_000133.4(F9):c.747T>C (p.Asp249=) rs2148367218
NM_000133.4(F9):c.750A>T (p.Ala250=)
NM_000133.4(F9):c.755G>A (p.Cys252Tyr)
NM_000133.4(F9):c.755G>C (p.Cys252Ser) rs267606792
NM_000133.4(F9):c.756T>G (p.Cys252Trp) rs1556008316
NM_000133.4(F9):c.757G>A (p.Gly253Arg) rs1603267181
NM_000133.4(F9):c.762C>G (p.Gly254=)
NM_000133.4(F9):c.780A>G (p.Lys260=)
NM_000133.4(F9):c.782G>A (p.Trp261Ter) rs2148367245
NM_000133.4(F9):c.792T>G (p.Thr264=)
NM_000133.4(F9):c.796G>A (p.Ala266Thr)
NM_000133.4(F9):c.79G>A (p.Glu27Lys) rs387906475
NM_000133.4(F9):c.7C>A (p.Arg3Ser)
NM_000133.4(F9):c.7C>T (p.Arg3Cys) rs766259893
NM_000133.4(F9):c.801C>T (p.His267=)
NM_000133.4(F9):c.802T>A (p.Cys268Ser) rs1603267194
NM_000133.4(F9):c.804T>G (p.Cys268Trp) rs137852246
NM_000133.4(F9):c.827_828del (p.Thr276fs)
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+17A>C
NM_000133.4(F9):c.838+18A>G
NM_000133.4(F9):c.838+1_838+16del rs2148367304
NM_000133.4(F9):c.839-16A>G
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.845A>G (p.His282Arg) rs753654616
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
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)
NM_000133.4(F9):c.871G>C (p.Glu291Gln)
NM_000133.4(F9):c.872A>T (p.Glu291Val) rs137852279
NM_000133.4(F9):c.879G>A (p.Lys293=)
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+16T>A
NM_000133.4(F9):c.88+1G>A rs1603263397
NM_000133.4(F9):c.88+20A>T
NM_000133.4(F9):c.88+2T>C rs2148353009
NM_000133.4(F9):c.88+5G>T rs1603263401
NM_000133.4(F9):c.88+5_88+8del rs1603263399
NM_000133.4(F9):c.88+75A>G
NM_000133.4(F9):c.88+8T>C
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)
NM_000133.4(F9):c.884_895del (p.Asn295_Arg298del) rs1928103331
NM_000133.4(F9):c.885T>C (p.Asn295=)
NM_000133.4(F9):c.887T>A (p.Val296Glu) rs1371397743
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.88G>C (p.Val30Leu) rs1603263395
NM_000133.4(F9):c.89-10del
NM_000133.4(F9):c.89-14C>A
NM_000133.4(F9):c.89-15del
NM_000133.4(F9):c.89-19T>A
NM_000133.4(F9):c.89-20A>G
NM_000133.4(F9):c.89-3C>A
NM_000133.4(F9):c.89-7A>G rs1603264192
NM_000133.4(F9):c.89-9A>G
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.894A>G (p.Arg298=)
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.914A>G (p.Tyr305Cys) rs1603267332
NM_000133.4(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000133.4(F9):c.944A>G (p.Asp315Gly)
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=)
NM_000133.4(F9):c.949G>A (p.Ala317Thr)
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000133.4(F9):c.952C>T (p.Leu318Phe)
NM_000133.4(F9):c.953T>G (p.Leu318Arg)
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
NM_000133.4(F9):c.960A>C (p.Glu320Asp) rs1489951549
NM_000133.4(F9):c.963G>T (p.Leu321=)
NM_000133.4(F9):c.969A>G (p.Glu323=)
NM_000133.4(F9):c.969_975del (p.Pro324fs)
NM_000133.4(F9):c.984C>G (p.Asn328Lys)
NM_000133.4(F9):c.990C>A (p.Tyr330Ter) rs1928109999
NM_000133.4(F9):c.998C>T (p.Pro333Leu) rs137852252
NM_000133.4(F9):c.9C>G (p.Arg3=) rs1335753805
NM_000173.7(GP1BA):c.1009C>T (p.Gln337Ter)
NM_000173.7(GP1BA):c.1093C>T (p.Leu365Phe)
NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp) rs2151108403
NM_000173.7(GP1BA):c.1426del (p.Ser476fs)
NM_000173.7(GP1BA):c.1436T>A (p.Leu479Ter)
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) rs759573909
NM_000173.7(GP1BA):c.1699C>T (p.Gln567Ter)
NM_000173.7(GP1BA):c.1775G>A (p.Arg592Gln)
NM_000173.7(GP1BA):c.298del (p.Leu100fs)
NM_000173.7(GP1BA):c.376A>G (p.Asn126Asp)
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) rs121908065
NM_000173.7(GP1BA):c.527T>G (p.Leu176Trp)
NM_000173.7(GP1BA):c.624del (p.Phe208fs)
NM_000173.7(GP1BA):c.70A>T (p.Lys24Ter)
NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu) rs2151107964
NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp) rs121908062
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000173.7(GP1BA):c.783dup (p.Val262fs)
NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr) rs765474118
NM_000173.7(GP1BA):c.883del (p.Tyr295fs)
NM_000173.7(GP1BA):c.987G>A (p.Trp329Ter)
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_000186.3(CFH):c.-124G>T rs527444515
NM_000186.4(CFH):c.*127G>T rs369221006
NM_000186.4(CFH):c.-61A>G rs886045741
NM_000186.4(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.4(CFH):c.104G>A (p.Gly35Asp)
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) rs1573026975
NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)
NM_000186.4(CFH):c.1159+4A>T
NM_000186.4(CFH):c.11T>C (p.Leu4Pro)
NM_000186.4(CFH):c.1207G>C (p.Gly403Arg)
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.4(CFH):c.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1337-2A>G
NM_000186.4(CFH):c.1343G>A (p.Cys448Tyr)
NM_000186.4(CFH):c.134G>T (p.Gly45Val)
NM_000186.4(CFH):c.139del (p.Gln47fs)
NM_000186.4(CFH):c.1444G>A (p.Val482Ile)
NM_000186.4(CFH):c.1451C>T (p.Ala484Val) rs1668781638
NM_000186.4(CFH):c.1464A>G (p.Thr488=)
NM_000186.4(CFH):c.1486A>C (p.Lys496Gln)
NM_000186.4(CFH):c.1511C>G (p.Thr504Arg)
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.1520-2A>G
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter) rs1328357943
NM_000186.4(CFH):c.158G>T (p.Arg53Leu)
NM_000186.4(CFH):c.1609del (p.His537fs)
NM_000186.4(CFH):c.1615G>A (p.Gly539Ser)
NM_000186.4(CFH):c.1616G>T (p.Gly539Val) rs1027258331
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
NM_000186.4(CFH):c.1666A>C (p.Asn556His) rs2149103764
NM_000186.4(CFH):c.1670G>A (p.Gly557Asp)
NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.1735G>A (p.Val579Ile)
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
NM_000186.4(CFH):c.1905A>T (p.Glu635Asp)
NM_000186.4(CFH):c.1916G>T (p.Gly639Val)
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) rs760174473
NM_000186.4(CFH):c.1986A>G (p.Arg662=)
NM_000186.4(CFH):c.2009A>C (p.Lys670Thr)
NM_000186.4(CFH):c.2027G>A (p.Gly676Glu) rs1558178947
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2071T>C (p.Cys691Arg) rs1669151290
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)
NM_000186.4(CFH):c.2114C>T (p.Ser705Phe)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.2149T>G (p.Phe717Val)
NM_000186.4(CFH):c.2167_2178del (p.Phe723_Ile726del)
NM_000186.4(CFH):c.218C>T (p.Ala73Val)
NM_000186.4(CFH):c.2200A>T (p.Ile734Phe)
NM_000186.4(CFH):c.2204A>G (p.His735Arg)
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.4(CFH):c.2236+1G>C
NM_000186.4(CFH):c.2237-3T>C
NM_000186.4(CFH):c.223A>C (p.Asn75His)
NM_000186.4(CFH):c.2247_2252del (p.Leu750_Lys751del)
NM_000186.4(CFH):c.2260A>G (p.Lys754Glu)
NM_000186.4(CFH):c.2261A>G (p.Lys754Arg)
NM_000186.4(CFH):c.2295A>T (p.Leu765Phe)
NM_000186.4(CFH):c.232A>G (p.Arg78Gly)
NM_000186.4(CFH):c.2397del (p.Glu800fs) rs1131690796
NM_000186.4(CFH):c.2402T>G (p.Val801Gly)
NM_000186.4(CFH):c.2405A>G (p.Asn802Ser)
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.245-1G>C
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.245A>G (p.Lys82Arg)
NM_000186.4(CFH):c.2477C>A (p.Thr826Lys)
NM_000186.4(CFH):c.2485dup (p.Tyr829fs)
NM_000186.4(CFH):c.2519A>G (p.Gln840Arg)
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2563G>A (p.Asp855Asn)
NM_000186.4(CFH):c.2565T>A (p.Asp855Glu)
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)
NM_000186.4(CFH):c.25T>G (p.Cys9Gly)
NM_000186.4(CFH):c.2602dup (p.Ile868fs) rs2149113459
NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)
NM_000186.4(CFH):c.2620C>T (p.Pro874Ser)
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.271A>G (p.Thr91Ala)
NM_000186.4(CFH):c.272C>G (p.Thr91Ser)
NM_000186.4(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.4(CFH):c.2763T>C (p.Ser921=) rs1212658402
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.284C>A (p.Thr95Asn)
NM_000186.4(CFH):c.2851T>C (p.Tyr951His)
NM_000186.4(CFH):c.2905G>T (p.Ala969Ser)
NM_000186.4(CFH):c.2912C>T (p.Ala971Val)
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.2956+13G>A rs572034879
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
NM_000186.4(CFH):c.3022T>C (p.Tyr1008His)
NM_000186.4(CFH):c.3029C>T (p.Ala1010Val)
NM_000186.4(CFH):c.3079G>A (p.Ala1027Thr)
NM_000186.4(CFH):c.3104G>A (p.Ser1035Asn)
NM_000186.4(CFH):c.3105C>A (p.Ser1035Arg)
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
NM_000186.4(CFH):c.3119G>A (p.Arg1040Lys)
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3137CCT[1] (p.Ser1047del)
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3149A>T (p.Asn1050Ile)
NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)
NM_000186.4(CFH):c.3168T>G (p.Asn1056Lys)
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr) rs1652885970
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer)
NM_000186.4(CFH):c.3181T>C (p.Ser1061Pro)
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.319G>A (p.Gly107Ser)
NM_000186.4(CFH):c.3209G>C (p.Gly1070Ala)
NM_000186.4(CFH):c.320G>T (p.Gly107Val)
NM_000186.4(CFH):c.3215G>C (p.Arg1072Thr)
NM_000186.4(CFH):c.3220C>T (p.Arg1074Cys)
NM_000186.4(CFH):c.3238C>G (p.Pro1080Ala)
NM_000186.4(CFH):c.3271T>C (p.Cys1091Arg)
NM_000186.4(CFH):c.3285C>A (p.Asn1095Lys)
NM_000186.4(CFH):c.3290C>T (p.Thr1097Met)
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_000186.4(CFH):c.3341C>T (p.Pro1114Leu)
NM_000186.4(CFH):c.3358A>G (p.Ile1120Val)
NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)
NM_000186.4(CFH):c.3377C>T (p.Ser1126Leu)
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.3427C>A (p.Gln1143Lys)
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.4(CFH):c.3437G>A (p.Gly1146Asp)
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln) rs1064795727
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg) rs2149118066
NM_000186.4(CFH):c.3459A>C (p.Arg1153Ser)
NM_000186.4(CFH):c.3472T>C (p.Ser1158Pro)
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
NM_000186.4(CFH):c.3493+1G>A rs1387205085
NM_000186.4(CFH):c.3493+2T>C rs1652989506
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000186.4(CFH):c.3506T>C (p.Ile1169Thr)
NM_000186.4(CFH):c.3512G>A (p.Arg1171Gln)
NM_000186.4(CFH):c.3517A>T (p.Ile1173Phe)
NM_000186.4(CFH):c.3530A>T (p.Tyr1177Phe) rs1653040477
NM_000186.4(CFH):c.3532A>T (p.Asn1178Tyr) rs1653040605
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.3545G>A (p.Arg1182Lys) rs749403509
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) rs1653042358
NM_000186.4(CFH):c.3551C>T (p.Thr1184Ile)
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg) rs121913055
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3578C>T (p.Thr1193Ile)
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter) rs121913063
NM_000186.4(CFH):c.3617G>A (p.Arg1206His)
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter) rs121913051
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)
NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys) rs1653050051
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) rs796052136
NM_000186.4(CFH):c.39G>A (p.Trp13Ter)
NM_000186.4(CFH):c.418A>G (p.Ile140Val) rs1351991613
NM_000186.4(CFH):c.427+14G>C rs755841584
NM_000186.4(CFH):c.428-3C>T rs886045744
NM_000186.4(CFH):c.428T>C (p.Val143Ala)
NM_000186.4(CFH):c.47del (p.Cys16fs)
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000186.4(CFH):c.49G>A (p.Val17Ile)
NM_000186.4(CFH):c.521T>A (p.Val174Glu)
NM_000186.4(CFH):c.530T>C (p.Val177Ala)
NM_000186.4(CFH):c.550A>T (p.Ile184Phe)
NM_000186.4(CFH):c.558A>T (p.Gly186=)
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000186.4(CFH):c.592T>C (p.Trp198Arg)
NM_000186.4(CFH):c.602A>G (p.Glu201Gly)
NM_000186.4(CFH):c.620-2A>G
NM_000186.4(CFH):c.626C>T (p.Ser209Leu)
NM_000186.4(CFH):c.658C>T (p.Pro220Ser)
NM_000186.4(CFH):c.669G>A (p.Gln223=)
NM_000186.4(CFH):c.672G>T (p.Lys224Asn) rs1408473510
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_000186.4(CFH):c.791-20T>G
NM_000186.4(CFH):c.793A>G (p.Lys265Glu)
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000186.4(CFH):c.7C>T (p.Leu3Phe)
NM_000186.4(CFH):c.83_86del (p.Arg28fs) rs796052137
NM_000186.4(CFH):c.866A>G (p.Glu289Gly)
NM_000186.4(CFH):c.878A>G (p.Gln293Arg)
NM_000186.4(CFH):c.928A>G (p.Thr310Ala)
NM_000195.4(HPS1):c.1602_1605delCCTA
NM_000195.5(HPS1):c.*1001G>T rs190211350
NM_000195.5(HPS1):c.*1043C>T rs1844137935
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1212T>A rs557906923
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.*1249G>A rs886046583
NM_000195.5(HPS1):c.*766G>T rs886046587
NM_000195.5(HPS1):c.*768A>G rs886046586
NM_000195.5(HPS1):c.*952T>G rs886046585
NM_000195.5(HPS1):c.-153del rs886046593
NM_000195.5(HPS1):c.100G>T (p.Glu34Ter)
NM_000195.5(HPS1):c.1065del (p.Asn356fs)
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
NM_000195.5(HPS1):c.1090del (p.Pro363_Leu364insTer)
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.10G>A (p.Val4Ile)
NM_000195.5(HPS1):c.1101C>G (p.His367Gln)
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile) rs374952573
NM_000195.5(HPS1):c.1118C>A (p.Pro373His) rs945250747
NM_000195.5(HPS1):c.1127A>C (p.Gln376Pro)
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
NM_000195.5(HPS1):c.1156-8A>C rs1845516768
NM_000195.5(HPS1):c.1159C>T (p.Pro387Ser)
NM_000195.5(HPS1):c.117+1G>A
NM_000195.5(HPS1):c.1172del (p.Leu391fs)
NM_000195.5(HPS1):c.1178T>C (p.Leu393Pro)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) rs1303126934
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
NM_000195.5(HPS1):c.1335+1G>A
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1344G>C (p.Trp448Cys)
NM_000195.5(HPS1):c.1363G>T (p.Ala455Ser)
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1384G>A (p.Gly462Arg)
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.1398-1G>A
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro) rs757853476
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter) rs552340796
NM_000195.5(HPS1):c.1438G>C (p.Ala480Pro)
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1473dup (p.Ser492fs) rs1278834481
NM_000195.5(HPS1):c.1490A>G (p.His497Arg)
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1519dup (p.Gln507fs)
NM_000195.5(HPS1):c.151_156delinsATCA (p.Leu51fs)
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1532G>A (p.Arg511Gln)
NM_000195.5(HPS1):c.1533-17C>T rs187227619
NM_000195.5(HPS1):c.1559T>C (p.Phe520Ser)
NM_000195.5(HPS1):c.1567G>C (p.Val523Leu)
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile) rs2136134351
NM_000195.5(HPS1):c.1599-16T>G
NM_000195.5(HPS1):c.159G>T (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1600T>C (p.Tyr534His)
NM_000195.5(HPS1):c.1605AGA[1] (p.Glu536del)
NM_000195.5(HPS1):c.1616C>G (p.Pro539Arg)
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1633A>G (p.Ile545Val)
NM_000195.5(HPS1):c.1646G>A (p.Arg549His) rs753635327
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.166A>G (p.Ile56Val)
NM_000195.5(HPS1):c.1690A>G (p.Lys564Glu)
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu) rs1271147542
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala) rs1314012716
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg) rs372351461
NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu) rs372351461
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000195.5(HPS1):c.1768C>T (p.Arg590Cys)
NM_000195.5(HPS1):c.1769G>A (p.Arg590His)
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)
NM_000195.5(HPS1):c.1772G>A (p.Arg591Lys)
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
NM_000195.5(HPS1):c.1807_1808inv (p.Gln603Trp)
NM_000195.5(HPS1):c.1837del (p.Leu613fs)
NM_000195.5(HPS1):c.1855A>G (p.Met619Val) rs1844649182
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.1900G>T (p.Asp634Tyr) rs1844367598
NM_000195.5(HPS1):c.1921C>G (p.Leu641Val)
NM_000195.5(HPS1):c.1925del (p.Gly642fs) rs2136083690
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) rs1467653379
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
NM_000195.5(HPS1):c.1940+4A>G
NM_000195.5(HPS1):c.1940+5C>T
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys) rs1844278117
NM_000195.5(HPS1):c.1970G>A (p.Arg657His)
NM_000195.5(HPS1):c.197C>A (p.Ser66Ter)
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.1A>G (p.Met1Val)
NM_000195.5(HPS1):c.2001_2003delinsCCC (p.Leu668Pro)
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.200A>G (p.Asp67Gly)
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro) rs1844268357
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu) rs973290077
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
NM_000195.5(HPS1):c.2030C>G (p.Thr677Ser)
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_000195.5(HPS1):c.205T>C (p.Tyr69His)
NM_000195.5(HPS1):c.2086C>G (p.Arg696Gly)
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
NM_000195.5(HPS1):c.221C>T (p.Thr74Met)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.238del (p.Leu80fs) rs1453977337
NM_000195.5(HPS1):c.23C>A (p.Thr8Asn)
NM_000195.5(HPS1):c.254T>C (p.Leu85Pro)
NM_000195.5(HPS1):c.256-10G>A
NM_000195.5(HPS1):c.256-2A>C
NM_000195.5(HPS1):c.265T>C (p.Cys89Arg)
NM_000195.5(HPS1):c.268C>G (p.Leu90Val) rs1847174036
NM_000195.5(HPS1):c.276T>G (p.Ile92Met)
NM_000195.5(HPS1):c.296C>G (p.Thr99Ser)
NM_000195.5(HPS1):c.298G>A (p.Glu100Lys)
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
NM_000195.5(HPS1):c.2T>C (p.Met1Thr)
NM_000195.5(HPS1):c.307G>T (p.Gly103Trp) rs771121322
NM_000195.5(HPS1):c.310dup (p.Asp104fs)
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) rs376557022
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp) rs376557022
NM_000195.5(HPS1):c.321dup (p.Lys108fs)
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)
NM_000195.5(HPS1):c.331G>A (p.Val111Met)
NM_000195.5(HPS1):c.346T>C (p.Phe116Leu)
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+2T>G
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.399-14G>A rs1260083432
NM_000195.5(HPS1):c.410del (p.Pro137fs)
NM_000195.5(HPS1):c.424C>T (p.Arg142Cys)
NM_000195.5(HPS1):c.425G>A (p.Arg142His)
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.484C>T (p.Gln162Ter)
NM_000195.5(HPS1):c.485A>G (p.Gln162Arg)
NM_000195.5(HPS1):c.486G>T (p.Gln162His)
NM_000195.5(HPS1):c.499G>A (p.Ala167Thr)
NM_000195.5(HPS1):c.502G>A (p.Val168Met)
NM_000195.5(HPS1):c.507+2T>G rs1591109881
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.520C>G (p.Leu174Val)
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
NM_000195.5(HPS1):c.524T>G (p.Ile175Ser)
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687
NM_000195.5(HPS1):c.551_552del (p.Ile184fs) rs1591092841
NM_000195.5(HPS1):c.558_559del (p.Leu187fs)
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
NM_000195.5(HPS1):c.610G>A (p.Glu204Lys)
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly) rs565505287
NM_000195.5(HPS1):c.624T>G (p.His208Gln)
NM_000195.5(HPS1):c.635T>A (p.Leu212His)
NM_000195.5(HPS1):c.637G>A (p.Val213Met)
NM_000195.5(HPS1):c.640C>T (p.His214Tyr)
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
NM_000195.5(HPS1):c.668+1G>A
NM_000195.5(HPS1):c.668+3G>A
NM_000195.5(HPS1):c.669-1G>C
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000195.5(HPS1):c.689G>A (p.Arg230His) rs377752969
NM_000195.5(HPS1):c.697G>A (p.Asp233Asn)
NM_000195.5(HPS1):c.697G>C (p.Asp233His)
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu) rs1450596874
NM_000195.5(HPS1):c.706G>C (p.Ala236Pro)
NM_000195.5(HPS1):c.709C>G (p.Leu237Val)
NM_000195.5(HPS1):c.718C>G (p.Leu240Val)
NM_000195.5(HPS1):c.721del (p.Val241fs)
NM_000195.5(HPS1):c.723T>A (p.Val241=) rs1846304734
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
NM_000195.5(HPS1):c.769-14_834del
NM_000195.5(HPS1):c.76C>T (p.Leu26Phe)
NM_000195.5(HPS1):c.770C>G (p.Pro257Arg)
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.802A>G (p.Ile268Val)
NM_000195.5(HPS1):c.806C>T (p.Pro269Leu)
NM_000195.5(HPS1):c.807del (p.Val270fs)
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.813G>C (p.Gln271His)
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) rs1938751649
NM_000195.5(HPS1):c.82C>G (p.Leu28Val)
NM_000195.5(HPS1):c.835A>G (p.Thr279Ala)
NM_000195.5(HPS1):c.836C>T (p.Thr279Met)
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln) rs374679558
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg) rs11592273
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg) rs11592273
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.847_848delinsTA (p.Gly283Ter)
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg) rs1846147269
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.854G>C (p.Ser285Thr)
NM_000195.5(HPS1):c.860C>T (p.Ala287Val) rs1846143474
NM_000195.5(HPS1):c.866C>T (p.Thr289Met)
NM_000195.5(HPS1):c.868-15_877dup
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) rs1846105381
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)
NM_000195.5(HPS1):c.917C>T (p.Ser306Phe)
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.937+1G>A
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser) rs962689701
NM_000195.5(HPS1):c.938-1G>A
NM_000195.5(HPS1):c.944C>A (p.Thr315Asn)
NM_000195.5(HPS1):c.944C>T (p.Thr315Ile)
NM_000195.5(HPS1):c.946A>T (p.Ile316Phe)
NM_000195.5(HPS1):c.955G>C (p.Glu319Gln)
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys) rs551074257
NM_000195.5(HPS1):c.962G>A (p.Gly321Asp)
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.97_100del (p.Ser33fs) rs2136327710
NM_000195.5(HPS1):c.987+1G>A
NM_000195.5(HPS1):c.988-44_1023delinsT rs1591055649
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.5(CFI):c.-13G>A rs113612355
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) rs759676430
NM_000204.5(CFI):c.1007G>A (p.Arg336Gln)
NM_000204.5(CFI):c.1021G>A (p.Val341Met)
NM_000204.5(CFI):c.1036G>A (p.Ala346Thr)
NM_000204.5(CFI):c.1043T>C (p.Leu348Pro)
NM_000204.5(CFI):c.1044+9G>A rs568070697
NM_000204.5(CFI):c.1066G>A (p.Ala356Thr)
NM_000204.5(CFI):c.1075G>T (p.Asp359Tyr)
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000204.5(CFI):c.1122_1123insT (p.Ile375fs)
NM_000204.5(CFI):c.1149-1G>A
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) rs1373768125
NM_000204.5(CFI):c.1166G>A (p.Arg389His)
NM_000204.5(CFI):c.1169dup (p.Tyr390Ter)
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.1189G>T (p.Val397Leu)
NM_000204.5(CFI):c.11T>A (p.Leu4His)
NM_000204.5(CFI):c.121C>T (p.Leu41Phe)
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1235T>A (p.Val412Glu)
NM_000204.5(CFI):c.1274C>A (p.Thr425Asn)
NM_000204.5(CFI):c.1277A>G (p.Tyr426Cys)
NM_000204.5(CFI):c.1279C>A (p.Gln427Lys)
NM_000204.5(CFI):c.1289T>C (p.Ile430Thr)
NM_000204.5(CFI):c.1291G>T (p.Ala431Ser) rs758017357
NM_000204.5(CFI):c.1298T>C (p.Ile433Thr)
NM_000204.5(CFI):c.1300del (p.Glu434fs)
NM_000204.5(CFI):c.1326dup (p.Asp443fs)
NM_000204.5(CFI):c.1342C>T (p.Arg448Cys)
NM_000204.5(CFI):c.1352C>G (p.Pro451Arg)
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) rs1579164519
NM_000204.5(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.5(CFI):c.1388C>T (p.Pro463Leu)
NM_000204.5(CFI):c.1430A>G (p.Asp477Gly)
NM_000204.5(CFI):c.1459G>T (p.Gly487Cys)
NM_000204.5(CFI):c.1465G>A (p.Val489Ile)
NM_000204.5(CFI):c.1474A>C (p.Ile492Leu)
NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)
NM_000204.5(CFI):c.1489A>G (p.Lys497Glu)
NM_000204.5(CFI):c.1491G>C (p.Lys497Asn)
NM_000204.5(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.5(CFI):c.1538C>T (p.Thr513Ile)
NM_000204.5(CFI):c.1547G>A (p.Gly516Asp)
NM_000204.5(CFI):c.1569G>T (p.Gly523=)
NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)
NM_000204.5(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.5(CFI):c.1576G>T (p.Gly526Ter)
NM_000204.5(CFI):c.1595T>C (p.Met532Thr)
NM_000204.5(CFI):c.1618G>A (p.Val540Ile)
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter) rs121964915
NM_000204.5(CFI):c.1637G>T (p.Trp546Leu)
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000204.5(CFI):c.163A>T (p.Ile55Phe)
NM_000204.5(CFI):c.1683A>C (p.Lys561Asn)
NM_000204.5(CFI):c.1750T>C (p.Ter584Gln)
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) rs1393611407
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.227C>G (p.Ala76Gly) rs1010351654
NM_000204.5(CFI):c.250A>C (p.Thr84Pro)
NM_000204.5(CFI):c.266A>C (p.Lys89Thr)
NM_000204.5(CFI):c.275A>G (p.Glu92Gly)
NM_000204.5(CFI):c.280C>T (p.Leu94Phe) rs1027910523
NM_000204.5(CFI):c.292A>G (p.Thr98Ala) rs1478686846
NM_000204.5(CFI):c.328+5C>T
NM_000204.5(CFI):c.329-14dup rs754551276
NM_000204.5(CFI):c.329-8del
NM_000204.5(CFI):c.373G>C (p.Gly125Arg) rs910978973
NM_000204.5(CFI):c.413del (p.Met138fs)
NM_000204.5(CFI):c.419T>C (p.Ile140Thr)
NM_000204.5(CFI):c.439A>C (p.Met147Leu)
NM_000204.5(CFI):c.482+6C>A rs79375065
NM_000204.5(CFI):c.482+6C>G
NM_000204.5(CFI):c.482+6C>T rs79375065
NM_000204.5(CFI):c.502A>G (p.Arg168Gly)
NM_000204.5(CFI):c.505T>C (p.Phe169Leu)
NM_000204.5(CFI):c.57+1G>A
NM_000204.5(CFI):c.57+1G>C rs1425827135
NM_000204.5(CFI):c.599A>T (p.Lys200Met)
NM_000204.5(CFI):c.601A>G (p.Arg201Gly) rs887070139
NM_000204.5(CFI):c.612G>A (p.Met204Ile)
NM_000204.5(CFI):c.612G>T (p.Met204Ile)
NM_000204.5(CFI):c.634G>A (p.Val212Met)
NM_000204.5(CFI):c.688G>A (p.Val230Met)
NM_000204.5(CFI):c.748C>T (p.Gln250Ter)
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000204.5(CFI):c.764G>A (p.Cys255Tyr)
NM_000204.5(CFI):c.771A>G (p.Lys257=)
NM_000204.5(CFI):c.772+1G>T
NM_000204.5(CFI):c.773-1G>A
NM_000204.5(CFI):c.788G>T (p.Gly263Val)
NM_000204.5(CFI):c.79del (p.Asp27fs)
NM_000204.5(CFI):c.805G>A (p.Gly269Ser)
NM_000204.5(CFI):c.822C>T (p.Ser274=)
NM_000204.5(CFI):c.83T>A (p.Leu28Gln)
NM_000204.5(CFI):c.850T>G (p.Cys284Gly) rs1483694585
NM_000204.5(CFI):c.905-1G>C
NM_000204.5(CFI):c.91A>C (p.Lys31Gln) rs140888912
NM_000204.5(CFI):c.92A>C (p.Lys31Thr)
NM_000204.5(CFI):c.940+6C>A
NM_000204.5(CFI):c.941-10T>C rs2126191742
NM_000204.5(CFI):c.965T>C (p.Leu322Ser)
NM_000204.5(CFI):c.976T>C (p.Ser326Pro)
NM_000212.3(ITGB3):c.*1041T>C rs2065213700
NM_000212.3(ITGB3):c.*1226ATTTT[2] rs886053095
NM_000212.3(ITGB3):c.*1349G>C rs2065214730
NM_000212.3(ITGB3):c.*1804A>G rs886053096
NM_000212.3(ITGB3):c.*185T>G rs2065209331
NM_000212.3(ITGB3):c.*2404T>C rs2065219928
NM_000212.3(ITGB3):c.*553_*555del rs886053091
NM_000212.3(ITGB3):c.*639G>A rs17225109
NM_000212.3(ITGB3):c.*674G>T rs886053092
NM_000212.3(ITGB3):c.*805AAG[1] rs373163926
NM_000212.3(ITGB3):c.*90G>C rs2065208698
NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) rs2065118104
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser) rs2065118116
NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys) rs2065118116
NM_000212.3(ITGB3):c.1053_1058del (p.Ile351_Gly353delinsMet)
NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser) rs2143107081
NM_000212.3(ITGB3):c.1118C>T (p.Ala373Val)
NM_000212.3(ITGB3):c.1125+29G>C rs16941829
NM_000212.3(ITGB3):c.1125+3_1125+6del rs76562369
NM_000212.3(ITGB3):c.1129dup (p.Ile377fs) rs2143109012
NM_000212.3(ITGB3):c.1143A>C (p.Val381=) rs15908
NM_000212.3(ITGB3):c.1143A>T (p.Val381=) rs15908
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly) rs1880497383
NM_000212.3(ITGB3):c.1185del (p.Phe396fs)
NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter)
NM_000212.3(ITGB3):c.1192del (p.Ala398fs) rs2143109249
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr) rs121918449
NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter)
NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) rs2065055824
NM_000212.3(ITGB3):c.1260+9G>A
NM_000212.3(ITGB3):c.1261G>A (p.Val421Met) rs2143112328
NM_000212.3(ITGB3):c.1265G>A (p.Ser422Asn) rs372644002
NM_000212.3(ITGB3):c.1300del (p.Gln434fs) rs2143112489
NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter)
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1309_1311del (p.Glu437del) rs765171372
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser) rs2143112826
NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter) rs2143112940
NM_000212.3(ITGB3):c.1406dup (p.Pro469_Asn470insTer) rs1567766810
NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) rs1386425657
NM_000212.3(ITGB3):c.1412G>T (p.Ser471Ile)
NM_000212.3(ITGB3):c.1431C>T (p.Gly477=)
NM_000212.3(ITGB3):c.1448G>A (p.Cys483Tyr)
NM_000212.3(ITGB3):c.1451G>T (p.Gly484Val)
NM_000212.3(ITGB3):c.1456del (p.Cys486fs) rs2143113218
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp) rs1255017270
NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter)
NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg) rs2143113460
NM_000212.3(ITGB3):c.1522del (p.Gln508fs) rs1399789771
NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter)
NM_000212.3(ITGB3):c.1525del (p.Gln509fs) rs2143113595
NM_000212.3(ITGB3):c.153del (p.Trp51fs) rs2143068680
NM_000212.3(ITGB3):c.1543del (p.Arg515fs) rs2143113675
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) rs13306487
NM_000212.3(ITGB3):c.1550del (p.Gly517fs) rs1393664515
NM_000212.3(ITGB3):c.155G>T (p.Cys52Phe)
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr) rs2065130922
NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe)
NM_000212.3(ITGB3):c.1616_1617del (p.Phe539fs)
NM_000212.3(ITGB3):c.161_165+1delinsCTGATT
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly)
NM_000212.3(ITGB3):c.1640G>A (p.Cys547Tyr) rs2065131166
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) rs185135224
NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp) rs185135224
NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser) rs1395325049
NM_000212.3(ITGB3):c.165+1G>T rs2143068731
NM_000212.3(ITGB3):c.1658_1660del (p.Ser553del)
NM_000212.3(ITGB3):c.166-14C>A rs749373796
NM_000212.3(ITGB3):c.166-2A>G rs75354240
NM_000212.3(ITGB3):c.1690G>C (p.Gly564Arg) rs2143114313
NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) rs2065157059
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) rs1057518837
NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg) rs2065157102
NM_000212.3(ITGB3):c.1703G>A (p.Cys568Tyr) rs2143129695
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)
NM_000212.3(ITGB3):c.1728del (p.Ser577fs) rs2143129755
NM_000212.3(ITGB3):c.1732G>A (p.Asp578Asn) rs141912699
NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter) rs2143129828
NM_000212.3(ITGB3):c.1757G>T (p.Cys586Phe) rs2143129874
NM_000212.3(ITGB3):c.1764G>C (p.Thr588=) rs763874595
NM_000212.3(ITGB3):c.1784_1802delinsGTCACA (p.Ser595fs) rs2143129998
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)
NM_000212.3(ITGB3):c.1801T>A (p.Cys601Ser)
NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg) rs747534508
NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly) rs747534508
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser)
NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp) rs2143130130
NM_000212.3(ITGB3):c.1815C>T (p.Gly605=)
NM_000212.3(ITGB3):c.1818G>T (p.Lys606Asn)
NM_000212.3(ITGB3):c.1835G>A (p.Cys612Tyr) rs2143130239
NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val)
NM_000212.3(ITGB3):c.1913+1G>A rs2065158302
NM_000212.3(ITGB3):c.1913+5G>T rs764779088
NM_000212.3(ITGB3):c.1914-7C>T
NM_000212.3(ITGB3):c.191G>A (p.Cys64Tyr) rs74554539
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter) rs121918451
NM_000212.3(ITGB3):c.1955A>T (p.His652Leu)
NM_000212.3(ITGB3):c.1975C>T (p.Arg659Cys)
NM_000212.3(ITGB3):c.1980C>A (p.Tyr660Ter) rs777913442
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys) rs151219882
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter)
NM_000212.3(ITGB3):c.2014+1G>A rs2065163860
NM_000212.3(ITGB3):c.2014+5G>A rs2143133455
NM_000212.3(ITGB3):c.2027A>C (p.Lys676Thr)
NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs) rs2143138089
NM_000212.3(ITGB3):c.2068_2069del (p.Val690fs) rs2143138162
NM_000212.3(ITGB3):c.2080C>T (p.Gln694Ter) rs2143138190
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)
NM_000212.3(ITGB3):c.2113del (p.Leu705fs) rs780384800
NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val) rs1205019601
NM_000212.3(ITGB3):c.2187_2203delinsTCATTGGCTCA (p.Ile730_Leu735delinsHisTrpLeuIle)
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs) rs2143150604
NM_000212.3(ITGB3):c.2217del (p.Ile740fs) rs2143150614
NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter)
NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)
NM_000212.3(ITGB3):c.224del (p.Cys75fs) rs753932639
NM_000212.3(ITGB3):c.225_226del (p.Ala76fs) rs1438135616
NM_000212.3(ITGB3):c.2301+1G>C
NM_000212.3(ITGB3):c.2301+5G>A
NM_000212.3(ITGB3):c.2302-1G>A rs2143158065
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000212.3(ITGB3):c.2332T>C (p.Ser778Pro) rs121918447
NM_000212.3(ITGB3):c.2351C>T (p.Thr784Met)
NM_000212.3(ITGB3):c.2T>C (p.Met1Thr)
NM_000212.3(ITGB3):c.325del (p.Val109fs) rs1567764064
NM_000212.3(ITGB3):c.330_336del (p.Ser110fs)
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) rs72547409
NM_000212.3(ITGB3):c.361+1G>A rs2143090512
NM_000212.3(ITGB3):c.362-1G>A rs1567764299
NM_000212.3(ITGB3):c.383T>G (p.Ile128Ser)
NM_000212.3(ITGB3):c.385C>A (p.Gln129Lys)
NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro) rs201806801
NM_000212.3(ITGB3):c.401del (p.Glu134fs)
NM_000212.3(ITGB3):c.412G>A (p.Val138Met) rs2065095545
NM_000212.3(ITGB3):c.415G>C (p.Asp139His) rs2143092554
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys) rs1739770567
NM_000212.3(ITGB3):c.428T>C (p.Leu143Ser)
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr) rs121918445
NM_000212.3(ITGB3):c.437T>C (p.Leu146Pro) rs2065095643
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) rs887221055
NM_000212.3(ITGB3):c.445T>C (p.Ser149Pro)
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) rs767548512
NM_000212.3(ITGB3):c.473A>G (p.Gln158Arg)
NM_000212.3(ITGB3):c.473A>T (p.Gln158Leu)
NM_000212.3(ITGB3):c.487A>C (p.Lys163Gln)
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) rs1038392991
NM_000212.3(ITGB3):c.538G>A (p.Gly180Arg)
NM_000212.3(ITGB3):c.55del (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.563C>T (p.Ser188Leu)
NM_000212.3(ITGB3):c.567del (p.Tyr190fs)
NM_000212.3(ITGB3):c.598G>A (p.Glu200Lys)
NM_000212.3(ITGB3):c.59T>C (p.Leu20Pro) rs2149057083
NM_000212.3(ITGB3):c.59T>G (p.Leu20Arg)
NM_000212.3(ITGB3):c.602del (p.Asn201fs)
NM_000212.3(ITGB3):c.613_614+2del rs2143093355
NM_000212.3(ITGB3):c.614+1G>T rs2065096678
NM_000212.3(ITGB3):c.615-1G>A
NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser) rs2065102210
NM_000212.3(ITGB3):c.646T>C (p.Tyr216His)
NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys) rs2065102310
NM_000212.3(ITGB3):c.652C>T (p.His218Tyr) rs2143096777
NM_000212.3(ITGB3):c.655G>A (p.Val219Met)
NM_000212.3(ITGB3):c.674del (p.Gln225fs) rs2143096900
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) rs746626039
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_000212.3(ITGB3):c.728A>T (p.Asp243Val) rs2143097053
NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp) rs79560904
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) rs1057518838
NM_000212.3(ITGB3):c.756del (p.Met253fs) rs2143097158
NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys) rs2065102917
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg) rs1598690979
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) rs2065103002
NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)
NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)
NM_000212.3(ITGB3):c.812dup (p.Leu271fs)
NM_000212.3(ITGB3):c.842A>C (p.His281Pro) rs2143098907
NM_000212.3(ITGB3):c.847_848del (p.Ala283fs)
NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg) rs1199275720
NM_000212.3(ITGB3):c.85A>G (p.Asn29Asp)
NM_000212.3(ITGB3):c.861del (p.Arg287fs) rs2143098979
NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro)
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter) rs1193381168
NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del)
NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter) rs2065105940
NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter) rs2143099209
NM_000212.3(ITGB3):c.92G>A (p.Cys31Tyr)
NM_000212.3(ITGB3):c.939+1G>T
NM_000212.3(ITGB3):c.940-2A>G rs2065117719
NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr) rs2065117726
NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala) rs2065117736
NM_000212.3(ITGB3):c.953T>C (p.Leu318Ser) rs1424237752
NM_000212.3(ITGB3):c.961A>C (p.Met321Leu)
NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn) rs2143105830
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853
NM_000301.5(PLG):c.1023A>T (p.Gln341His)
NM_000301.5(PLG):c.103A>G (p.Ser35Gly)
NM_000301.5(PLG):c.1075A>G (p.Thr359Ala)
NM_000301.5(PLG):c.1107G>T (p.Glu369Asp)
NM_000301.5(PLG):c.1157G>A (p.Arg386Gln)
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln) rs1582940083
NM_000301.5(PLG):c.1229A>G (p.Gln410Arg)
NM_000301.5(PLG):c.130G>A (p.Gly44Arg)
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1330G>A (p.Val444Ile)
NM_000301.5(PLG):c.1334G>T (p.Arg445Met)
NM_000301.5(PLG):c.1363T>C (p.Ser455Pro)
NM_000301.5(PLG):c.1366G>C (p.Gly456Arg)
NM_000301.5(PLG):c.137T>C (p.Ile46Thr)
NM_000301.5(PLG):c.1385T>A (p.Val462Glu)
NM_000301.5(PLG):c.1385T>C (p.Val462Ala)
NM_000301.5(PLG):c.1432G>A (p.Glu478Lys)
NM_000301.5(PLG):c.1434A>C (p.Glu478Asp)
NM_000301.5(PLG):c.1435G>T (p.Glu479Ter) rs121918032
NM_000301.5(PLG):c.1442G>A (p.Cys481Tyr)
NM_000301.5(PLG):c.1445T>C (p.Met482Thr)
NM_000301.5(PLG):c.1458G>T (p.Gly486=)
NM_000301.5(PLG):c.1480_1481delinsAA (p.Ala494Lys)
NM_000301.5(PLG):c.1481C>A (p.Ala494Glu)
NM_000301.5(PLG):c.1520C>T (p.Ala507Val)
NM_000301.5(PLG):c.1540A>G (p.Ser514Gly)
NM_000301.5(PLG):c.1550C>T (p.Thr517Ile)
NM_000301.5(PLG):c.1564C>T (p.Pro522Ser)
NM_000301.5(PLG):c.1568G>A (p.Arg523Gln)
NM_000301.5(PLG):c.1573G>A (p.Gly525Ser)
NM_000301.5(PLG):c.160G>A (p.Glu54Lys)
NM_000301.5(PLG):c.162GGA[1] (p.Glu55del)
NM_000301.5(PLG):c.1646G>T (p.Arg549Ile)
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.1745T>C (p.Val582Ala)
NM_000301.5(PLG):c.1771T>C (p.Ser591Pro) rs121918029
NM_000301.5(PLG):c.177C>T (p.Phe59=)
NM_000301.5(PLG):c.1787T>G (p.Val596Gly)
NM_000301.5(PLG):c.1802+3A>G
NM_000301.5(PLG):c.1848G>A (p.Trp616Ter) rs121918031
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000301.5(PLG):c.187G>T (p.Ala63Ser)
NM_000301.5(PLG):c.1912G>A (p.Gly638Ser)
NM_000301.5(PLG):c.1949A>T (p.Gln650Leu)
NM_000301.5(PLG):c.1955T>G (p.Ile652Arg)
NM_000301.5(PLG):c.1966A>T (p.Arg656Trp)
NM_000301.5(PLG):c.1987C>T (p.Arg663Ter)
NM_000301.5(PLG):c.19G>T (p.Val7Phe)
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000301.5(PLG):c.2024C>T (p.Ala675Val)
NM_000301.5(PLG):c.2030T>C (p.Ile677Thr)
NM_000301.5(PLG):c.2063C>T (p.Ser688Phe)
NM_000301.5(PLG):c.2086C>G (p.Arg696Gly)
NM_000301.5(PLG):c.2120C>T (p.Thr707Ile)
NM_000301.5(PLG):c.2125+1del rs606231210
NM_000301.5(PLG):c.2192G>A (p.Arg731His)
NM_000301.5(PLG):c.2227G>A (p.Glu743Lys)
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly) rs1582955692
NM_000301.5(PLG):c.2302G>C (p.Glu768Gln)
NM_000301.5(PLG):c.2356C>T (p.Arg786Cys)
NM_000301.5(PLG):c.239G>A (p.Arg80Lys)
NM_000301.5(PLG):c.2413G>A (p.Gly805Arg)
NM_000301.5(PLG):c.2416G>A (p.Val806Met)
NM_000301.5(PLG):c.264G>A (p.Met88Ile)
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.28C>T (p.Leu10Phe)
NM_000301.5(PLG):c.292+1G>C
NM_000301.5(PLG):c.296A>T (p.Tyr99Phe)
NM_000301.5(PLG):c.313A>G (p.Thr105Ala)
NM_000301.5(PLG):c.385T>C (p.Ser129Pro)
NM_000301.5(PLG):c.407+8A>G
NM_000301.5(PLG):c.435G>T (p.Glu145Asp)
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.468C>A (p.Asp156Glu)
NM_000301.5(PLG):c.493T>C (p.Tyr165His)
NM_000301.5(PLG):c.50-5T>G
NM_000301.5(PLG):c.538G>A (p.Glu180Lys)
NM_000301.5(PLG):c.539A>C (p.Glu180Ala)
NM_000301.5(PLG):c.572A>G (p.Glu191Gly)
NM_000301.5(PLG):c.59A>C (p.Glu20Ala)
NM_000301.5(PLG):c.653G>T (p.Gly218Val)
NM_000301.5(PLG):c.662C>T (p.Pro221Leu)
NM_000301.5(PLG):c.669-8C>A
NM_000301.5(PLG):c.674C>G (p.Pro225Arg)
NM_000301.5(PLG):c.677A>T (p.Asn226Ile)
NM_000301.5(PLG):c.677del (p.Asn226fs)
NM_000301.5(PLG):c.67_68delinsAT (p.Asp23Ile)
NM_000301.5(PLG):c.687GAA[2] (p.Lys231del) rs121918034
NM_000301.5(PLG):c.704G>A (p.Arg235His) rs121918030
NM_000301.5(PLG):c.714T>C (p.Asp238=)
NM_000301.5(PLG):c.743C>T (p.Thr248Ile)
NM_000301.5(PLG):c.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.747C>G (p.Asp249Glu)
NM_000301.5(PLG):c.749C>T (p.Pro250Leu)
NM_000301.5(PLG):c.772G>A (p.Asp258Asn)
NM_000301.5(PLG):c.781C>T (p.Arg261Cys)
NM_000301.5(PLG):c.788-11G>T
NM_000301.5(PLG):c.78G>C (p.Val26=)
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.833G>C (p.Gly278Ala)
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000301.5(PLG):c.857A>G (p.Asn286Ser)
NM_000301.5(PLG):c.884C>A (p.Thr295Asn)
NM_000301.5(PLG):c.884C>T (p.Thr295Ile)
NM_000301.5(PLG):c.886T>G (p.Cys296Gly) rs1777777927
NM_000301.5(PLG):c.910C>G (p.Pro304Ala)
NM_000301.5(PLG):c.944C>T (p.Pro315Leu)
NM_000301.5(PLG):c.948C>A (p.Cys316Ter)
NM_000301.5(PLG):c.950+4A>G rs1582937995
NM_000301.5(PLG):c.974G>T (p.Arg325Leu)
NM_000301.5(PLG):c.992G>C (p.Arg331Thr)
NM_000301.5(PLG):c.99G>C (p.Leu33=)
NM_000312.4(PROC):c.*176T>C rs150393087
NM_000312.4(PROC):c.*220G>C rs886054849
NM_000312.4(PROC):c.*81T>C rs1688720421
NM_000312.4(PROC):c.1000G>T (p.Gly334Cys) rs121918150
NM_000312.4(PROC):c.1005G>A (p.Gln335=)
NM_000312.4(PROC):c.1005G>C (p.Gln335His)
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)
NM_000312.4(PROC):c.1074C>A (p.Phe358Leu) rs769300513
NM_000312.4(PROC):c.1074C>T (p.Phe358=)
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)
NM_000312.4(PROC):c.1142T>C (p.Val381Ala)
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.1166G>C (p.Gly389Ala) rs1305782685
NM_000312.4(PROC):c.1173C>T (p.Leu391=)
NM_000312.4(PROC):c.1177G>A (p.Asp393Asn)
NM_000312.4(PROC):c.1179C>T (p.Asp393=)
NM_000312.4(PROC):c.1180C>T (p.Arg394Trp)
NM_000312.4(PROC):c.1181G>A (p.Arg394Gln)
NM_000312.4(PROC):c.1196A>C (p.Glu399Ala)
NM_000312.4(PROC):c.1200C>T (p.Gly400=)
NM_000312.4(PROC):c.1212dup (p.Pro405fs) rs1333329860
NM_000312.4(PROC):c.1217T>A (p.Met406Lys)
NM_000312.4(PROC):c.1221C>T (p.Val407=)
NM_000312.4(PROC):c.1222G>A (p.Ala408Thr)
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)
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)
NM_000312.4(PROC):c.1249G>C (p.Val417Leu)
NM_000312.4(PROC):c.1260G>A (p.Val420=)
NM_000312.4(PROC):c.1265G>A (p.Trp422Ter)
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)
NM_000312.4(PROC):c.1278T>C (p.Cys426=)
NM_000312.4(PROC):c.1281G>T (p.Gly427=)
NM_000312.4(PROC):c.1287T>C (p.Leu429=)
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.1307C>T (p.Thr436Ile)
NM_000312.4(PROC):c.1313T>C (p.Val438Ala) rs1573461697
NM_000312.4(PROC):c.1321T>C (p.Tyr441His)
NM_000312.4(PROC):c.1329C>T (p.Asp443=)
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=)
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=)
NM_000312.4(PROC):c.156C>G (p.His52Gln) rs1558712064
NM_000312.4(PROC):c.164T>C (p.Leu55Pro)
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) rs121918148
NM_000312.4(PROC):c.186G>A (p.Glu62=)
NM_000312.4(PROC):c.198C>T (p.Phe66=)
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.206C>T (p.Ala69Val) rs984698204
NM_000312.4(PROC):c.208A>G (p.Lys70Glu)
NM_000312.4(PROC):c.20T>C (p.Leu7Pro)
NM_000312.4(PROC):c.236C>G (p.Thr79Arg)
NM_000312.4(PROC):c.237+15G>A
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)
NM_000312.4(PROC):c.262+14A>G
NM_000312.4(PROC):c.262+18C>T
NM_000312.4(PROC):c.262+6T>G
NM_000312.4(PROC):c.263-14G>T
NM_000312.4(PROC):c.263-19A>T
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)
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)
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)
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)
NM_000312.4(PROC):c.382G>C (p.Gly128Arg)
NM_000312.4(PROC):c.388T>C (p.Phe130Leu) rs1558713430
NM_000312.4(PROC):c.400+19T>G
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
NM_000312.4(PROC):c.400+9G>A
NM_000312.4(PROC):c.400+9del
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.41G>A (p.Trp14Ter) rs758576042
NM_000312.4(PROC):c.421T>C (p.Ser141Pro) rs1573444020
NM_000312.4(PROC):c.432C>T (p.Asn144=)
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) rs1247269491
NM_000312.4(PROC):c.441C>T (p.Cys147=)
NM_000312.4(PROC):c.446A>G (p.His149Arg)
NM_000312.4(PROC):c.452G>T (p.Cys151Phe)
NM_000312.4(PROC):c.468C>G (p.Gly156=)
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=)
NM_000312.4(PROC):c.497A>G (p.Tyr166Cys)
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>A
NM_000312.4(PROC):c.535+10C>T
NM_000312.4(PROC):c.535+13dup rs1688257183
NM_000312.4(PROC):c.535+15A>G
NM_000312.4(PROC):c.535+9C>T rs1178807938
NM_000312.4(PROC):c.536-19C>T
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.560G>A (p.Trp187Ter)
NM_000312.4(PROC):c.561G>A (p.Trp187Ter) rs1558715877
NM_000312.4(PROC):c.567G>A (p.Arg189=)
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)
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)
NM_000312.4(PROC):c.658C>A (p.Arg220=)
NM_000312.4(PROC):c.658C>T (p.Arg220Trp) 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=)
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.678+9C>T rs1053253907
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
NM_000312.4(PROC):c.679-19T>C
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)
NM_000312.4(PROC):c.699G>T (p.Lys233Asn)
NM_000312.4(PROC):c.69T>C (p.Leu23=)
NM_000312.4(PROC):c.6G>A (p.Trp2Ter)
NM_000312.4(PROC):c.70+10C>T
NM_000312.4(PROC):c.70+12C>T
NM_000312.4(PROC):c.70+15C>A
NM_000312.4(PROC):c.71-16C>A
NM_000312.4(PROC):c.71-16C>G
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.728T>C (p.Ile243Thr)
NM_000312.4(PROC):c.746T>C (p.Leu249Pro)
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)
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
NM_000312.4(PROC):c.797-20C>T
NM_000312.4(PROC):c.797-2A>T rs1186036467
NM_000312.4(PROC):c.797-4G>A rs112862143
NM_000312.4(PROC):c.797G>A (p.Gly266Glu)
NM_000312.4(PROC):c.799G>A (p.Glu267Lys) rs1553425185
NM_000312.4(PROC):c.815G>A (p.Arg272His)
NM_000312.4(PROC):c.819G>T (p.Trp273Cys) rs1573459299
NM_000312.4(PROC):c.825G>C (p.Lys275Asn)
NM_000312.4(PROC):c.834G>A (p.Leu278=)
NM_000312.4(PROC):c.837C>A (p.Asp279Glu)
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)
NM_000312.4(PROC):c.901G>A (p.Ala301Thr)
NM_000312.4(PROC):c.902C>T (p.Ala301Val) rs121918144
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
NM_000312.4(PROC):c.908T>G (p.Leu303Arg) rs1573459781
NM_000312.4(PROC):c.90C>T (p.Ser30=)
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)
NM_000312.4(PROC):c.945A>G (p.Ile315Met) rs1688675049
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)
NM_000312.4(PROC):c.965A>G (p.Asp322Gly)
NM_000312.4(PROC):c.96T>C (p.Arg32=)
NM_000312.4(PROC):c.973C>A (p.Leu325Ile)
NM_000312.4(PROC):c.980A>T (p.Glu327Val)
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)
NM_000312.4(PROC):c.997G>A (p.Ala333Thr)
NM_000312.4(PROC):c.999C>T (p.Ala333=)
NM_000313.3(PROS1):c.*1195C>G rs1708129293
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.*737G>C rs538937681
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.-168C>T rs199469484
NM_000313.4(PROS1):c.-39C>T rs2107279407
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.1069G>A (p.Gly357Arg)
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)
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro) rs2107150027
NM_000313.4(PROS1):c.109G>T (p.Val37Phe)
NM_000313.4(PROS1):c.1107C>T (p.Ser369=)
NM_000313.4(PROS1):c.111T>C (p.Val37=) rs886058928
NM_000313.4(PROS1):c.1124G>T (p.Gly375Val)
NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn) rs1437372036
NM_000313.4(PROS1):c.1140T>C (p.Asn380=)
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.1153A>G (p.Met385Val)
NM_000313.4(PROS1):c.1155+12G>C
NM_000313.4(PROS1):c.1155+2T>C
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
NM_000313.4(PROS1):c.1156-20A>G
NM_000313.4(PROS1):c.1156-4G>A
NM_000313.4(PROS1):c.1156-6T>C
NM_000313.4(PROS1):c.1179_1180dup (p.Ser394fs)
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter)
NM_000313.4(PROS1):c.1187G>A (p.Ser396Asn)
NM_000313.4(PROS1):c.118C>T (p.Arg40Cys)
NM_000313.4(PROS1):c.1191T>C (p.Ile397=)
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=)
NM_000313.4(PROS1):c.121C>T (p.Arg41Cys)
NM_000313.4(PROS1):c.1229C>A (p.Pro410His)
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1230T>C (p.Pro410=)
NM_000313.4(PROS1):c.1241T>C (p.Phe414Ser)
NM_000313.4(PROS1):c.1253dup (p.Asn418fs)
NM_000313.4(PROS1):c.1265A>G (p.Glu422Gly)
NM_000313.4(PROS1):c.1281T>C (p.Phe427=)
NM_000313.4(PROS1):c.1284del (p.Gly429fs) rs1576176794
NM_000313.4(PROS1):c.1294C>G (p.Arg432Gly)
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
NM_000313.4(PROS1):c.1324-6del rs762002556
NM_000313.4(PROS1):c.1324-9A>G rs2107137679
NM_000313.4(PROS1):c.1333C>T (p.Arg445Cys)
NM_000313.4(PROS1):c.1334G>A (p.Arg445His)
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)
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1352G>A (p.Arg451Gln)
NM_000313.4(PROS1):c.1398T>C (p.Ile466=)
NM_000313.4(PROS1):c.139G>T (p.Glu47Ter) rs1709034856
NM_000313.4(PROS1):c.1405G>T (p.Glu469Ter) rs267599946
NM_000313.4(PROS1):c.1424G>A (p.Cys475Tyr) rs766692725
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)
NM_000313.4(PROS1):c.1445G>T (p.Gly482Val)
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)
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)
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)
NM_000313.4(PROS1):c.1492+14C>A
NM_000313.4(PROS1):c.1492+6T>G
NM_000313.4(PROS1):c.1493-17T>C
NM_000313.4(PROS1):c.1493-9T>C
NM_000313.4(PROS1):c.1500A>G (p.Val500=)
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.1514del (p.Gly505fs) rs1576173175
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)
NM_000313.4(PROS1):c.1527T>C (p.Asn509=)
NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys) rs199469500
NM_000313.4(PROS1):c.1544G>A (p.Arg515His)
NM_000313.4(PROS1):c.1544G>C (p.Arg515Pro)
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.1568T>C (p.Met523Thr) rs1483547708
NM_000313.4(PROS1):c.1599G>A (p.Val533=) rs1232149677
NM_000313.4(PROS1):c.1608T>C (p.Ala536=)
NM_000313.4(PROS1):c.1612T>C (p.Ser538Pro)
NM_000313.4(PROS1):c.1617G>T (p.Leu539Phe)
NM_000313.4(PROS1):c.1626C>T (p.Ser542=)
NM_000313.4(PROS1):c.1641A>G (p.Ser547=) rs1445245201
NM_000313.4(PROS1):c.1644+17C>G
NM_000313.4(PROS1):c.1644+18C>A
NM_000313.4(PROS1):c.1644+2_1644+3insTT rs1218619325
NM_000313.4(PROS1):c.1644+4A>T
NM_000313.4(PROS1):c.1644G>A (p.Gln548=)
NM_000313.4(PROS1):c.1645-14G>A
NM_000313.4(PROS1):c.1645-6C>T
NM_000313.4(PROS1):c.1645-8C>T
NM_000313.4(PROS1):c.1654T>C (p.Leu552=)
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1682G>A (p.Arg561Gln)
NM_000313.4(PROS1):c.1684A>T (p.Ile562Leu) rs1380889353
NM_000313.4(PROS1):c.1703G>A (p.Cys568Tyr)
NM_000313.4(PROS1):c.1713A>G (p.Gln571=) rs571916140
NM_000313.4(PROS1):c.1724T>C (p.Leu575Pro)
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)
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)
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)
NM_000313.4(PROS1):c.1843G>A (p.Val615Met)
NM_000313.4(PROS1):c.1847C>T (p.Ala616Val)
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)
NM_000313.4(PROS1):c.1857G>A (p.Leu619=)
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=)
NM_000313.4(PROS1):c.1870+13T>C
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
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=)
NM_000313.4(PROS1):c.1891C>T (p.Pro631Ser) rs1708153020
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.1908del (p.Phe635_Tyr636insTer) rs1576170618
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) rs1576170616
NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe)
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=)
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)
NM_000313.4(PROS1):c.1972_1974dup (p.His658_Asn659insHis)
NM_000313.4(PROS1):c.1973A>G (p.His658Arg) rs1576170541
NM_000313.4(PROS1):c.1977del (p.Asn659fs)
NM_000313.4(PROS1):c.1991dup (p.His664fs) rs1553808038
NM_000313.4(PROS1):c.1994C>T (p.Ser665Leu)
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)
NM_000313.4(PROS1):c.2000_2001inv (p.Pro667Leu)
NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu) rs886058926
NM_000313.4(PROS1):c.2018C>A (p.Thr673Lys) rs1465989734
NM_000313.4(PROS1):c.2031A>T (p.Ter677Tyr) rs267606981
NM_000313.4(PROS1):c.215T>C (p.Phe72Ser)
NM_000313.4(PROS1):c.228G>A (p.Pro76=) rs6121
NM_000313.4(PROS1):c.228G>T (p.Pro76=)
NM_000313.4(PROS1):c.232dup (p.Thr78fs)
NM_000313.4(PROS1):c.234+11A>G
NM_000313.4(PROS1):c.234+12T>C
NM_000313.4(PROS1):c.234G>A (p.Thr78=) rs145399944
NM_000313.4(PROS1):c.235-12T>C
NM_000313.4(PROS1):c.235-13T>G
NM_000313.4(PROS1):c.235-16T>C
NM_000313.4(PROS1):c.235-17C>A
NM_000313.4(PROS1):c.235-1G>A rs1708985469
NM_000313.4(PROS1):c.235G>T (p.Asp79Tyr)
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)
NM_000313.4(PROS1):c.259+20A>G
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)
NM_000313.4(PROS1):c.264T>C (p.Cys88=)
NM_000313.4(PROS1):c.265C>T (p.Leu89Phe)
NM_000313.4(PROS1):c.266T>C (p.Leu89Pro)
NM_000313.4(PROS1):c.268C>T (p.Arg90Cys)
NM_000313.4(PROS1):c.269G>C (p.Arg90Pro) rs200886866
NM_000313.4(PROS1):c.294T>C (p.Thr98=)
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.31C>T (p.Leu11=)
NM_000313.4(PROS1):c.344_346+7del
NM_000313.4(PROS1):c.346+17T>C
NM_000313.4(PROS1):c.346+1G>T
NM_000313.4(PROS1):c.346+2T>A
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
NM_000313.4(PROS1):c.347-7C>T
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=)
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)
NM_000313.4(PROS1):c.469+18C>T
NM_000313.4(PROS1):c.469+19G>A
NM_000313.4(PROS1):c.470-10C>T
NM_000313.4(PROS1):c.470-11dup
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.480A>G (p.Glu160=)
NM_000313.4(PROS1):c.486A>G (p.Lys162=)
NM_000313.4(PROS1):c.49dup (p.Leu17fs) rs1575904540
NM_000313.4(PROS1):c.511T>G (p.Cys171Gly) rs1576186985
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.550del (p.Cys184fs) rs1576186962
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=)
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)
NM_000313.4(PROS1):c.601+10G>C
NM_000313.4(PROS1):c.601+18G>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=)
NM_000313.4(PROS1):c.607G>T (p.Asp203Tyr)
NM_000313.4(PROS1):c.60C>G (p.Pro20=)
NM_000313.4(PROS1):c.60C>T (p.Pro20=) rs1709918178
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)
NM_000313.4(PROS1):c.687C>G (p.Pro229=) rs149129715
NM_000313.4(PROS1):c.687C>T (p.Pro229=)
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.707T>G (p.Leu236Arg)
NM_000313.4(PROS1):c.708del (p.Lys237fs)
NM_000313.4(PROS1):c.710A>C (p.Lys237Thr) rs558211174
NM_000313.4(PROS1):c.718T>C (p.Ser240Pro)
NM_000313.4(PROS1):c.727+11G>A
NM_000313.4(PROS1):c.727+1G>A rs1332591784
NM_000313.4(PROS1):c.727+8G>A rs373359406
NM_000313.4(PROS1):c.728-12T>C rs775011352
NM_000313.4(PROS1):c.728-1G>A rs368074804
NM_000313.4(PROS1):c.728-1G>T
NM_000313.4(PROS1):c.728-5C>G
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
NM_000313.4(PROS1):c.76+19C>T
NM_000313.4(PROS1):c.76+1G>A rs2107279041
NM_000313.4(PROS1):c.76+2_76+3del rs2107279030
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter)
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) rs1576182848
NM_000313.4(PROS1):c.769_770del (p.Val257fs)
NM_000313.4(PROS1):c.77-11G>T
NM_000313.4(PROS1):c.77-15G>T
NM_000313.4(PROS1):c.77-2A>G
NM_000313.4(PROS1):c.77-3C>A
NM_000313.4(PROS1):c.773A>G (p.Asn258Ser) rs121918473
NM_000313.4(PROS1):c.785del (p.Gly262fs) rs1576182838
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)
NM_000313.4(PROS1):c.798T>C (p.Tyr266=) rs1447172346
NM_000313.4(PROS1):c.799T>C (p.Cys267Arg)
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)
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
NM_000313.4(PROS1):c.849G>A (p.Glu283=)
NM_000313.4(PROS1):c.850-12C>G
NM_000313.4(PROS1):c.864C>A (p.Cys288Ter) rs554787241
NM_000313.4(PROS1):c.864C>T (p.Cys288=)
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)
NM_000313.4(PROS1):c.909G>A (p.Ala303=) rs537938359
NM_000313.4(PROS1):c.912G>A (p.Glu304=)
NM_000313.4(PROS1):c.913C>T (p.Gln305Ter) rs1395378093
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.963C>T (p.Ser321=)
NM_000313.4(PROS1):c.964_965delinsCC (p.Arg322Pro)
NM_000313.4(PROS1):c.965+10C>A
NM_000313.4(PROS1):c.965+10C>G
NM_000313.4(PROS1):c.965+10C>T
NM_000313.4(PROS1):c.965+15C>T
NM_000313.4(PROS1):c.965+17A>C
NM_000313.4(PROS1):c.965+5G>A
NM_000313.4(PROS1):c.965+9C>T rs1708504228
NM_000313.4(PROS1):c.966-17C>G
NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs) rs863224838
NM_000313.4(PROS1):c.970T>C (p.Ser324Pro) rs1576180280
NM_000313.4(PROS1):c.971CAG[1] (p.Ala325del)
NM_000313.4(PROS1):c.980T>A (p.Phe327Tyr)
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.*1153A>G rs886056542
NM_000361.3(THBD):c.*1519G>C rs1984567640
NM_000361.3(THBD):c.*1845G>T rs867940213
NM_000361.3(THBD):c.*1869G>A rs886056539
NM_000361.3(THBD):c.*1G>T rs1984610334
NM_000361.3(THBD):c.*27C>T rs530087674
NM_000361.3(THBD):c.*508dup rs373979588
NM_000361.3(THBD):c.*511T>G rs182592762
NM_000361.3(THBD):c.*562G>C rs886056544
NM_000361.3(THBD):c.*663C>T rs886056543
NM_000361.3(THBD):c.*775G>C rs539785413
NM_000361.3(THBD):c.*943dup rs759004623
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu) rs376845574
NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)
NM_000361.3(THBD):c.1073T>G (p.Val358Gly)
NM_000361.3(THBD):c.1076A>G (p.Asp359Gly)
NM_000361.3(THBD):c.1096G>A (p.Val366Met)
NM_000361.3(THBD):c.109G>T (p.Ala37Ser)
NM_000361.3(THBD):c.1105T>A (p.Cys369Ser)
NM_000361.3(THBD):c.1184C>T (p.Ala395Val)
NM_000361.3(THBD):c.119C>A (p.Pro40Gln)
NM_000361.3(THBD):c.1205A>G (p.His402Arg) rs1984634547
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.1372C>T (p.Leu458Phe)
NM_000361.3(THBD):c.1375C>T (p.Pro459Ser)
NM_000361.3(THBD):c.1378G>A (p.Gly460Ser)
NM_000361.3(THBD):c.1409C>T (p.Ser470Leu)
NM_000361.3(THBD):c.1411G>A (p.Ala471Thr)
NM_000361.3(THBD):c.1429G>A (p.Gly477Ser)
NM_000361.3(THBD):c.142G>A (p.Ala48Thr) rs2122673257
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.1577T>C (p.Leu526Pro) rs1984617316
NM_000361.3(THBD):c.1588G>A (p.Val530Met)
NM_000361.3(THBD):c.15G>T (p.Leu5=) rs376209282
NM_000361.3(THBD):c.1621A>G (p.Lys541Glu)
NM_000361.3(THBD):c.1633G>A (p.Ala545Thr)
NM_000361.3(THBD):c.1660T>G (p.Cys554Gly)
NM_000361.3(THBD):c.1670C>T (p.Pro557Leu)
NM_000361.3(THBD):c.1674C>G (p.Ser558=) rs1984613257
NM_000361.3(THBD):c.1678G>A (p.Glu560Lys)
NM_000361.3(THBD):c.1688dup (p.Gln564fs)
NM_000361.3(THBD):c.1699C>G (p.Arg567Gly)
NM_000361.3(THBD):c.1712C>T (p.Thr571Met) rs1166732867
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.245del (p.Gly82fs) rs1600410451
NM_000361.3(THBD):c.254G>A (p.Arg85His)
NM_000361.3(THBD):c.257T>C (p.Leu86Pro)
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.49T>C (p.Phe17Leu) rs1600410618
NM_000361.3(THBD):c.538G>T (p.Val180Leu)
NM_000361.3(THBD):c.563C>G (p.Ala188Gly)
NM_000361.3(THBD):c.587C>G (p.Pro196Arg)
NM_000361.3(THBD):c.59C>A (p.Pro20His)
NM_000361.3(THBD):c.607G>T (p.Asp203Tyr)
NM_000361.3(THBD):c.623C>G (p.Pro208Arg)
NM_000361.3(THBD):c.656G>T (p.Gly219Val) rs886056548
NM_000361.3(THBD):c.667A>C (p.Met223Leu)
NM_000361.3(THBD):c.670T>G (p.Cys224Gly)
NM_000361.3(THBD):c.719C>T (p.Pro240Leu)
NM_000361.3(THBD):c.724G>T (p.Ala242Ser)
NM_000361.3(THBD):c.731A>G (p.Asp244Gly)
NM_000361.3(THBD):c.747C>G (p.Asn249Lys) rs886056546
NM_000361.3(THBD):c.787C>G (p.Pro263Ala)
NM_000361.3(THBD):c.80G>A (p.Gly27Asp)
NM_000361.3(THBD):c.832C>T (p.Arg278Cys)
NM_000361.3(THBD):c.844G>C (p.Ala282Pro)
NM_000361.3(THBD):c.851C>G (p.Ala284Gly)
NM_000361.3(THBD):c.877G>C (p.Glu293Gln) rs765071586
NM_000361.3(THBD):c.885C>T (p.Phe295=) rs1568666169
NM_000361.3(THBD):c.896A>C (p.Asn299Thr)
NM_000361.3(THBD):c.897C>T (p.Asn299=) rs1008621697
NM_000361.3(THBD):c.898C>A (p.Pro300Thr) rs199987510
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.963C>G (p.His321Gln)
NM_000361.3(THBD):c.965G>A (p.Arg322Gln)
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_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
NM_000377.3(WAS):c.1032T>G (p.Pro344=)
NM_000377.3(WAS):c.1038T>G (p.Pro346=)
NM_000377.3(WAS):c.1039T>C (p.Leu347=)
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1041G>A (p.Leu347=)
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)
NM_000377.3(WAS):c.1052del (p.Pro351fs) rs2147266405
NM_000377.3(WAS):c.1053A>C (p.Pro351=)
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
NM_000377.3(WAS):c.105_106del (p.Leu35_Phe36insTer)
NM_000377.3(WAS):c.1061C>A (p.Pro354Gln)
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu) rs267606468
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
NM_000377.3(WAS):c.1075C>A (p.Pro359Thr)
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) rs2062428888
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000377.3(WAS):c.1080A>C (p.Pro360=) rs1409607754
NM_000377.3(WAS):c.1082C>A (p.Pro361His)
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr) rs2147266477
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
NM_000377.3(WAS):c.1086A>G (p.Pro362=) rs1304836055
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1091G>A (p.Arg364Gln)
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
NM_000377.3(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.3(WAS):c.1101T>C (p.Pro367=)
NM_000377.3(WAS):c.1101T>G (p.Pro367=)
NM_000377.3(WAS):c.1104A>C (p.Pro368=)
NM_000377.3(WAS):c.1106C>T (p.Pro369Leu)
NM_000377.3(WAS):c.1107A>C (p.Pro369=)
NM_000377.3(WAS):c.1107A>G (p.Pro369=)
NM_000377.3(WAS):c.1113C>T (p.Pro371=)
NM_000377.3(WAS):c.1116T>A (p.Pro372=)
NM_000377.3(WAS):c.1116T>C (p.Pro372=)
NM_000377.3(WAS):c.1119A>C (p.Pro373=)
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
NM_000377.3(WAS):c.1122T>C (p.Ala374=)
NM_000377.3(WAS):c.1122T>G (p.Ala374=)
NM_000377.3(WAS):c.1125T>A (p.Thr375=)
NM_000377.3(WAS):c.1125T>G (p.Thr375=)
NM_000377.3(WAS):c.1128A>G (p.Gly376=)
NM_000377.3(WAS):c.1131T>G (p.Arg377=)
NM_000377.3(WAS):c.1134T>G (p.Ser378=)
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
NM_000377.3(WAS):c.1140A>C (p.Pro380=)
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) rs1043747875
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1189C>G (p.Pro397Ala)
NM_000377.3(WAS):c.1190C>T (p.Pro397Leu)
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg) rs1602179582
NM_000377.3(WAS):c.1197A>G (p.Pro399=) rs1602179584
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) rs782596670
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
NM_000377.3(WAS):c.1219G>C (p.Gly407Arg)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
NM_000377.3(WAS):c.122G>A (p.Arg41Gln)
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) rs782784813
NM_000377.3(WAS):c.1259T>C (p.Val420Ala)
NM_000377.3(WAS):c.1260G>A (p.Val420=)
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs) rs2147266901
NM_000377.3(WAS):c.1271_1317del (p.Gly424fs)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) rs2062430786
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
NM_000377.3(WAS):c.1285G>C (p.Gly429Arg)
NM_000377.3(WAS):c.1289del (p.Gly430fs)
NM_000377.3(WAS):c.1289dup (p.Arg431fs)
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr) rs2147262523
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) rs2062431125
NM_000377.3(WAS):c.1315_1453+204del rs1602179794
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) rs2062431180
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.132+14C>G
NM_000377.3(WAS):c.132+6C>T
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
NM_000377.3(WAS):c.133-15G>A
NM_000377.3(WAS):c.133-19C>G
NM_000377.3(WAS):c.133-19C>T
NM_000377.3(WAS):c.133-5C>T
NM_000377.3(WAS):c.1335C>T (p.Asn445=)
NM_000377.3(WAS):c.1337_1338+9del rs1602179810
NM_000377.3(WAS):c.1338+13A>G
NM_000377.3(WAS):c.1338+13A>T
NM_000377.3(WAS):c.1338+9A>C
NM_000377.3(WAS):c.1339-16T>C
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.1339-6C>G rs1207805593
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
NM_000377.3(WAS):c.1343C>T (p.Pro448Leu)
NM_000377.3(WAS):c.1347G>A (p.Gly449=)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1356G>T (p.Glu452Asp)
NM_000377.3(WAS):c.135G>A (p.Thr45=)
NM_000377.3(WAS):c.135G>T (p.Thr45=)
NM_000377.3(WAS):c.1366C>T (p.Leu456=)
NM_000377.3(WAS):c.136C>T (p.Leu46=)
NM_000377.3(WAS):c.1377A>G (p.Pro459=)
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg) rs782489472
NM_000377.3(WAS):c.1386C>G (p.Ser462Arg)
NM_000377.3(WAS):c.138G>A (p.Leu46=)
NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) rs2062432605
NM_000377.3(WAS):c.1405dup (p.Ala469fs) rs2062432653
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
NM_000377.3(WAS):c.141C>T (p.Ala47=) rs1602176588
NM_000377.3(WAS):c.1429A>G (p.Arg477Gly) rs2147267330
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
NM_000377.3(WAS):c.1453+12C>T
NM_000377.3(WAS):c.1453+17G>A
NM_000377.3(WAS):c.1453+1G>A
NM_000377.3(WAS):c.1453+20G>C
NM_000377.3(WAS):c.1453+2T>G rs2147267350
NM_000377.3(WAS):c.1453+6C>G
NM_000377.3(WAS):c.1453+9A>C
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.1454-11T>C
NM_000377.3(WAS):c.1454-12C>A
NM_000377.3(WAS):c.1454-12C>T
NM_000377.3(WAS):c.1454-5T>C
NM_000377.3(WAS):c.1454-6C>T
NM_000377.3(WAS):c.1454-7C>T
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) rs2062438405
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp) rs975384814
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)
NM_000377.3(WAS):c.1473T>C (p.Ala491=)
NM_000377.3(WAS):c.1476C>A (p.Gly492=)
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) rs1569494232
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala) rs2147268585
NM_000377.3(WAS):c.1490A>G (p.Asp497Gly)
NM_000377.3(WAS):c.1494T>C (p.Asp498=)
NM_000377.3(WAS):c.149T>A (p.Val50Asp) rs2147262772
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?) rs2147268618
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
NM_000377.3(WAS):c.150T>A (p.Val50=)
NM_000377.3(WAS):c.156G>C (p.Gln52His)
NM_000377.3(WAS):c.159G>A (p.Leu53=)
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) rs2062412293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.168G>A (p.Ala56=)
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.177del (p.Gly60fs) rs2147262829
NM_000377.3(WAS):c.189C>T (p.His63=)
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.3(WAS):c.204T>C (p.His68=)
NM_000377.3(WAS):c.209G>T (p.Gly70Val)
NM_000377.3(WAS):c.210G>A (p.Gly70=) rs886038288
NM_000377.3(WAS):c.222C>T (p.Phe74=)
NM_000377.3(WAS):c.225G>A (p.Val75=)
NM_000377.3(WAS):c.226_228del (p.Lys76del)
NM_000377.3(WAS):c.227A>C (p.Lys76Thr) rs782350319
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
NM_000377.3(WAS):c.243G>A (p.Lys81=)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.255C>T (p.Ile85=)
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.257G>T (p.Arg86Leu) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11C>A
NM_000377.3(WAS):c.273+11C>G
NM_000377.3(WAS):c.273+11C>T
NM_000377.3(WAS):c.273+11del
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.273+14C>G
NM_000377.3(WAS):c.273+17C>A
NM_000377.3(WAS):c.273+17C>T
NM_000377.3(WAS):c.273+19A>G
NM_000377.3(WAS):c.273+1G>A rs1064794076
NM_000377.3(WAS):c.273+6C>T
NM_000377.3(WAS):c.273+8_273+9insA
NM_000377.3(WAS):c.273+9C>T
NM_000377.3(WAS):c.273+9_273+11dup
NM_000377.3(WAS):c.273G>A (p.Gln91=)
NM_000377.3(WAS):c.274-11C>T
NM_000377.3(WAS):c.274-20C>A
NM_000377.3(WAS):c.274-9C>G rs2062416001
NM_000377.3(WAS):c.274G>A (p.Ala92Thr)
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
NM_000377.3(WAS):c.283C>T (p.Leu95=)
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.296A>C (p.Gln99Pro) rs2062416153
NM_000377.3(WAS):c.296A>G (p.Gln99Arg) rs2062416153
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.303G>A (p.Leu101=)
NM_000377.3(WAS):c.30C>A (p.Pro10=)
NM_000377.3(WAS):c.30C>G (p.Pro10=)
NM_000377.3(WAS):c.30C>T (p.Pro10=)
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.315dup (p.Val106fs)
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.335C>A (p.Pro112His)
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
NM_000377.3(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.3(WAS):c.348C>G (p.Thr116=)
NM_000377.3(WAS):c.352G>A (p.Ala118Thr)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+13C>T
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.360+1G>C rs1057520700
NM_000377.3(WAS):c.360+5G>A
NM_000377.3(WAS):c.360+6T>C
NM_000377.3(WAS):c.361-10G>A
NM_000377.3(WAS):c.361-12A>G rs781885441
NM_000377.3(WAS):c.361-1G>C
NM_000377.3(WAS):c.361-8A>T
NM_000377.3(WAS):c.369A>G (p.Gln123=)
NM_000377.3(WAS):c.371C>A (p.Ala124Glu) rs782543817
NM_000377.3(WAS):c.372G>A (p.Ala124=)
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) rs1557006534
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.388G>A (p.Asp130Asn) rs1557006548
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3]) rs587776743
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
NM_000377.3(WAS):c.396C>T (p.Asp132=)
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
NM_000377.3(WAS):c.405G>A (p.Gln135=)
NM_000377.3(WAS):c.412C>T (p.Arg138Trp) rs1372273668
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.420C>A (p.Leu140=)
NM_000377.3(WAS):c.421G>A (p.Val141Met)
NM_000377.3(WAS):c.427_429del (p.Glu143del)
NM_000377.3(WAS):c.436C>A (p.Gln146Lys)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.438A>G (p.Gln146=)
NM_000377.3(WAS):c.445A>T (p.Asn149Tyr) rs2147263992
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.454C>T (p.Gln152Ter)
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
NM_000377.3(WAS):c.456A>C (p.Gln152His)
NM_000377.3(WAS):c.463+10C>T
NM_000377.3(WAS):c.463+12A>G
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.464-13C>T
NM_000377.3(WAS):c.464-9T>C
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.467G>C (p.Arg156Thr) rs2062418154
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
NM_000377.3(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.3(WAS):c.505+10C>A
NM_000377.3(WAS):c.505+20T>C
NM_000377.3(WAS):c.505+4A>G
NM_000377.3(WAS):c.506-10A>G
NM_000377.3(WAS):c.506-15A>G
NM_000377.3(WAS):c.506-1G>C
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
NM_000377.3(WAS):c.519G>T (p.Gly173=)
NM_000377.3(WAS):c.51G>A (p.Ala17=)
NM_000377.3(WAS):c.51G>C (p.Ala17=)
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)
NM_000377.3(WAS):c.52G>A (p.Val18Ile) rs1569493676
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) rs2062419034
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
NM_000377.3(WAS):c.540T>C (p.His180=)
NM_000377.3(WAS):c.541C>T (p.Pro181Ser)
NM_000377.3(WAS):c.542C>T (p.Pro181Leu)
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.554A>T (p.Gln185Leu) rs2147264325
NM_000377.3(WAS):c.559+14_559+32del rs782477646
NM_000377.3(WAS):c.559+2T>G rs1602177733
NM_000377.3(WAS):c.559+4C>T
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.559+6_559+13dup
NM_000377.3(WAS):c.559+8C>G rs1602177756
NM_000377.3(WAS):c.560-1G>A rs1602178087
NM_000377.3(WAS):c.560-4A>C
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.560-6C>T
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.3(WAS):c.570G>A (p.Val190=)
NM_000377.3(WAS):c.576G>A (p.Pro192=)
NM_000377.3(WAS):c.579C>T (p.Leu193=)
NM_000377.3(WAS):c.585G>T (p.Leu195=)
NM_000377.3(WAS):c.588G>C (p.Gly196=)
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.593C>G (p.Ala198Gly)
NM_000377.3(WAS):c.601G>A (p.Asp201Asn) rs2147264847
NM_000377.3(WAS):c.603C>T (p.Asp201=) rs2062421636
NM_000377.3(WAS):c.606C>A (p.Ile202=)
NM_000377.3(WAS):c.610A>T (p.Asn204Tyr)
NM_000377.3(WAS):c.618C>T (p.Asp206=)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.624G>A (p.Thr208=) rs2147264874
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
NM_000377.3(WAS):c.633A>G (p.Arg211=) rs2147264887
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.642G>C (p.Gly214=)
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.663C>T (p.Ser221=)
NM_000377.3(WAS):c.669T>G (p.Ala223=) rs928562174
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
NM_000377.3(WAS):c.675G>A (p.Lys225=)
NM_000377.3(WAS):c.680G>A (p.Arg227His)
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del) rs782409127
NM_000377.3(WAS):c.690G>A (p.Lys230=)
NM_000377.3(WAS):c.691A>T (p.Lys231Ter)
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.6T>C (p.Ser2=)
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.713T>C (p.Ile238Thr) rs2062422194
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs) rs2147264989
NM_000377.3(WAS):c.726T>G (p.Ser242Arg) rs947162120
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.734+3G>A
NM_000377.3(WAS):c.735-10C>A
NM_000377.3(WAS):c.735-16_735-15insGT
NM_000377.3(WAS):c.735-2A>G rs1602178800
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.735-5C>T
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000377.3(WAS):c.744C>T (p.Ser248=)
NM_000377.3(WAS):c.747C>A (p.His249Gln)
NM_000377.3(WAS):c.747C>T (p.His249=)
NM_000377.3(WAS):c.750G>A (p.Val250=)
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.75C>T (p.Thr25=)
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000377.3(WAS):c.768T>C (p.Asn256=) rs2147265705
NM_000377.3(WAS):c.777+11T>A
NM_000377.3(WAS):c.777+12del
NM_000377.3(WAS):c.777+17T>C
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.777+3_777+6del rs2147265717
NM_000377.3(WAS):c.777+4A>C
NM_000377.3(WAS):c.777+5G>A
NM_000377.3(WAS):c.777+6dup rs2147265723
NM_000377.3(WAS):c.777C>T (p.Asp259=) rs2147265709
NM_000377.3(WAS):c.778-11C>T
NM_000377.3(WAS):c.778-14T>C
NM_000377.3(WAS):c.778-1G>A rs2147265861
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.778-8C>T
NM_000377.3(WAS):c.780G>A (p.Val260=) rs2147265866
NM_000377.3(WAS):c.789C>T (p.Leu263=)
NM_000377.3(WAS):c.790G>A (p.Asp264Asn) rs2147265872
NM_000377.3(WAS):c.795A>C (p.Pro265=)
NM_000377.3(WAS):c.802del (p.Arg268fs) rs2147265894
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.805A>T (p.Ser269Cys) rs2147265903
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.810G>T (p.Leu270=)
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.819G>A (p.Arg273=)
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.831C>T (p.Ser277=)
NM_000377.3(WAS):c.834G>A (p.Glu278=)
NM_000377.3(WAS):c.841C>A (p.Leu281Ile) rs2147265956
NM_000377.3(WAS):c.846C>T (p.Thr282=)
NM_000377.3(WAS):c.852C>G (p.Ala284=)
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.858C>T (p.Thr286=) rs2147266003
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000377.3(WAS):c.874G>A (p.Asp292Asn) rs2062427019
NM_000377.3(WAS):c.879_882del (p.Phe293fs)
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.886G>A (p.Asp296Asn)
NM_000377.3(WAS):c.88_90del (p.His30del)
NM_000377.3(WAS):c.913C>T (p.Gln305Ter)
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
NM_000377.3(WAS):c.919A>G (p.Met307Val)
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.925C>T (p.Arg309Cys) rs1215457658
NM_000377.3(WAS):c.931+10T>A
NM_000377.3(WAS):c.931+14T>C
NM_000377.3(WAS):c.931+15C>T
NM_000377.3(WAS):c.931+19A>C
NM_000377.3(WAS):c.931+1G>C
NM_000377.3(WAS):c.931+20C>A rs782462041
NM_000377.3(WAS):c.931+20C>T
NM_000377.3(WAS):c.931+5G>C
NM_000377.3(WAS):c.931+7C>A
NM_000377.3(WAS):c.932-10C>T
NM_000377.3(WAS):c.932-11C>A
NM_000377.3(WAS):c.932-12C>A
NM_000377.3(WAS):c.932-12C>T
NM_000377.3(WAS):c.932-15A>G
NM_000377.3(WAS):c.932-18_932-17del
NM_000377.3(WAS):c.932-5C>T
NM_000377.3(WAS):c.932-9C>A
NM_000377.3(WAS):c.932-9_932-8dup
NM_000377.3(WAS):c.942G>A (p.Pro314=)
NM_000377.3(WAS):c.945G>A (p.Pro315=)
NM_000377.3(WAS):c.947C>A (p.Pro316His) rs2147266241
NM_000377.3(WAS):c.953C>T (p.Pro318Leu)
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.963AGG[1] (p.Gly323del)
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000377.3(WAS):c.96C>G (p.Asn32Lys)
NM_000377.3(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
NM_000377.3(WAS):c.984del (p.Pro330fs)
NM_000377.3(WAS):c.987C>T (p.Pro329=)
NM_000377.3(WAS):c.990del (p.Ile331fs) rs2147266326
NM_000377.3(WAS):c.991A>T (p.Ile331Phe) rs2147266334
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)
NM_000377.3(WAS):c.996G>C (p.Val332=)
NM_000377.3(WAS):c.996G>T (p.Val332=)
NM_000377.3(WAS):c.998G>C (p.Gly333Ala)
NM_000377.3(WAS):c.999G>C (p.Gly333=)
NM_000412.5(HRG):c.1194_1196del (p.His400del)
NM_000412.5(HRG):c.227C>T (p.Ser76Leu)
NM_000412.5(HRG):c.308G>A (p.Gly103Glu) rs121918122
NM_000412.5(HRG):c.372del (p.Phe124fs)
NM_000412.5(HRG):c.745C>T (p.His249Tyr) rs2108584875
NM_000419.4(ITGA2B):c.[1787T>C];[439C>G]
NM_000419.4:c.(1210+1_1211-1)_(1878+1_1879-1)del
NM_000419.5(ITGA2B):c.*150C>A rs77992265
NM_000419.5(ITGA2B):c.*165T>C rs2143416246
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln) rs1598381654
NM_000419.5(ITGA2B):c.100C>A (p.Leu34Met)
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1020C>T (p.Gly340=)
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1022C>T (p.Ala341Val) rs2048616805
NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro) rs1476448476
NM_000419.5(ITGA2B):c.1051C>T (p.Arg351Ter) rs1032879686
NM_000419.5(ITGA2B):c.1071dup (p.Arg358fs)
NM_000419.5(ITGA2B):c.1072C>T (p.Arg358Cys) rs1026539797
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) rs2048615633
NM_000419.5(ITGA2B):c.1076T>A (p.Val359Glu)
NM_000419.5(ITGA2B):c.1096C>T (p.Arg366Ter)
NM_000419.5(ITGA2B):c.10G>A (p.Ala4Thr)
NM_000419.5(ITGA2B):c.1105C>G (p.His369Asp)
NM_000419.5(ITGA2B):c.1105C>T (p.His369Tyr)
NM_000419.5(ITGA2B):c.1108G>A (p.Ala370Thr)
NM_000419.5(ITGA2B):c.1110G>A (p.Ala370=)
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
NM_000419.5(ITGA2B):c.1139G>T (p.Gly380Val) rs766006685
NM_000419.5(ITGA2B):c.113del (p.Gln38fs)
NM_000419.5(ITGA2B):c.1142C>T (p.Thr381Ile) rs2048614738
NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)
NM_000419.5(ITGA2B):c.1162G>A (p.Gly388Ser)
NM_000419.5(ITGA2B):c.1184G>A (p.Gly395Asp)
NM_000419.5(ITGA2B):c.1184G>T (p.Gly395Val)
NM_000419.5(ITGA2B):c.1192G>T (p.Asp398Tyr) rs746322312
NM_000419.5(ITGA2B):c.1196G>A (p.Arg399Gln)
NM_000419.5(ITGA2B):c.1198G>A (p.Asp400Asn)
NM_000419.5(ITGA2B):c.119C>T (p.Thr40Ile)
NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys) rs2048613694
NM_000419.5(ITGA2B):c.1210+19C>T
NM_000419.5(ITGA2B):c.1210+5G>A rs2143475577
NM_000419.5(ITGA2B):c.1210+609C>T
NM_000419.5(ITGA2B):c.1210+9del
NM_000419.5(ITGA2B):c.1210G>T (p.Asp404Tyr)
NM_000419.5(ITGA2B):c.1211-10C>T
NM_000419.5(ITGA2B):c.1211-1G>C rs1598380380
NM_000419.5(ITGA2B):c.1211-78A>G
NM_000419.5(ITGA2B):c.1211-9T>G
NM_000419.5(ITGA2B):c.1214T>G (p.Ile405Ser)
NM_000419.5(ITGA2B):c.1220T>G (p.Val407Gly)
NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)
NM_000419.5(ITGA2B):c.1230del (p.Tyr411fs)
NM_000419.5(ITGA2B):c.1232A>G (p.Tyr411Cys)
NM_000419.5(ITGA2B):c.1232dup (p.Tyr411Ter) rs2143465421
NM_000419.5(ITGA2B):c.1233C>A (p.Tyr411Ter) rs779910477
NM_000419.5(ITGA2B):c.1233C>T (p.Tyr411=)
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1245T>G (p.Ser415Arg)
NM_000419.5(ITGA2B):c.1252G>T (p.Gly418Cys)
NM_000419.5(ITGA2B):c.1253del (p.Gly418fs) rs2143465205
NM_000419.5(ITGA2B):c.1259T>C (p.Val420Ala) rs2048592296
NM_000419.5(ITGA2B):c.1266G>A (p.Val422=)
NM_000419.5(ITGA2B):c.1271T>G (p.Leu424Arg)
NM_000419.5(ITGA2B):c.1272G>A (p.Leu424=)
NM_000419.5(ITGA2B):c.1297C>T (p.Arg433Cys)
NM_000419.5(ITGA2B):c.1298G>A (p.Arg433His)
NM_000419.5(ITGA2B):c.1316A>G (p.Asp439Gly)
NM_000419.5(ITGA2B):c.1317C>A (p.Asp439Glu)
NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val) rs2048678209
NM_000419.5(ITGA2B):c.1341C>T (p.Ala447=)
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1353C>T (p.Ser451=)
NM_000419.5(ITGA2B):c.1355T>G (p.Leu452Arg)
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1358G>A (p.Arg453Gln)
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met) rs372294932
NM_000419.5(ITGA2B):c.1375G>A (p.Asp459Asn)
NM_000419.5(ITGA2B):c.1377T>A (p.Asp459Glu)
NM_000419.5(ITGA2B):c.1378G>C (p.Asp460His)
NM_000419.5(ITGA2B):c.137A>G (p.Asn46Ser)
NM_000419.5(ITGA2B):c.1384G>A (p.Gly462Arg)
NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1392A>G (p.Pro464=)
NM_000419.5(ITGA2B):c.1401C>G (p.Ile467Met)
NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter) rs78218617
NM_000419.5(ITGA2B):c.1414G>A (p.Gly472Arg)
NM_000419.5(ITGA2B):c.1422C>T (p.Asn474=)
NM_000419.5(ITGA2B):c.1423C>T (p.Gln475Ter)
NM_000419.5(ITGA2B):c.1424_1427dup (p.Ala477fs)
NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro)
NM_000419.5(ITGA2B):c.1439+20G>A
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.1440-20C>G
NM_000419.5(ITGA2B):c.1447C>T (p.Pro483Ser)
NM_000419.5(ITGA2B):c.1460_1461insAGGT (p.Ser488fs) rs2143461728
NM_000419.5(ITGA2B):c.1466T>C (p.Val489Ala)
NM_000419.5(ITGA2B):c.146A>T (p.Gln49Leu)
NM_000419.5(ITGA2B):c.1498G>A (p.Ala500Thr)
NM_000419.5(ITGA2B):c.1520C>G (p.Pro507Arg) rs2143461368
NM_000419.5(ITGA2B):c.1524_1533del (p.Gln508fs)
NM_000419.5(ITGA2B):c.1525A>G (p.Thr509Ala)
NM_000419.5(ITGA2B):c.1531A>G (p.Thr511Ala)
NM_000419.5(ITGA2B):c.1536C>G (p.Pro512=)
NM_000419.5(ITGA2B):c.1544+18A>G
NM_000419.5(ITGA2B):c.1544+1G>A rs879255509
NM_000419.5(ITGA2B):c.1545-11C>T
NM_000419.5(ITGA2B):c.1545-17C>A
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1545-1del rs2048583710
NM_000419.5(ITGA2B):c.1551C>A (p.Asn517Lys)
NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn)
NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter)
NM_000419.5(ITGA2B):c.1558A>C (p.Met520Leu)
NM_000419.5(ITGA2B):c.1558A>T (p.Met520Leu)
NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter)
NM_000419.5(ITGA2B):c.1574C>T (p.Thr525Ile)
NM_000419.5(ITGA2B):c.1585A>C (p.Ile529Leu)
NM_000419.5(ITGA2B):c.1587T>C (p.Ile529=)
NM_000419.5(ITGA2B):c.1590del (p.Gln531fs)
NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter)
NM_000419.5(ITGA2B):c.1599_1600del (p.Ser534fs)
NM_000419.5(ITGA2B):c.1600+11T>C
NM_000419.5(ITGA2B):c.1600+15G>T
NM_000419.5(ITGA2B):c.1600+16G>C
NM_000419.5(ITGA2B):c.1600+16G>T rs199614885
NM_000419.5(ITGA2B):c.1600+1G>A
NM_000419.5(ITGA2B):c.1600+20C>A
NM_000419.5(ITGA2B):c.1601-14G>C
NM_000419.5(ITGA2B):c.1608del (p.Asn536fs) rs2143459811
NM_000419.5(ITGA2B):c.1611C>T (p.Ala537=)
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) rs780837520
NM_000419.5(ITGA2B):c.1616T>G (p.Leu539Arg) rs2048581782
NM_000419.5(ITGA2B):c.1616_1620delinsGGCAC (p.Leu539_Gln540delinsArgHis)
NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) rs1344768030
NM_000419.5(ITGA2B):c.1618del (p.Gln540fs) rs2048581747
NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del) rs2143459210
NM_000419.5(ITGA2B):c.1620G>C (p.Gln540His) rs2048581681
NM_000419.5(ITGA2B):c.1622T>A (p.Leu541Gln) rs1598379635
NM_000419.5(ITGA2B):c.1623G>A (p.Leu541=)
NM_000419.5(ITGA2B):c.1624G>A (p.Asp542Asn)
NM_000419.5(ITGA2B):c.1627C>A (p.Arg543=)
NM_000419.5(ITGA2B):c.1632G>A (p.Gln544=)
NM_000419.5(ITGA2B):c.1639C>T (p.Arg547Cys)
NM_000419.5(ITGA2B):c.1641C>T (p.Arg547=)
NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter)
NM_000419.5(ITGA2B):c.1644G>A (p.Gln548=)
NM_000419.5(ITGA2B):c.1648C>A (p.Arg550=)
NM_000419.5(ITGA2B):c.1649G>A (p.Arg550Gln)
NM_000419.5(ITGA2B):c.1654del (p.Val552fs)
NM_000419.5(ITGA2B):c.1666G>T (p.Gly556Cys)
NM_000419.5(ITGA2B):c.1670C>G (p.Ser557Cys)
NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter) rs74602141
NM_000419.5(ITGA2B):c.1704G>A (p.Leu568=)
NM_000419.5(ITGA2B):c.1707C>T (p.Gly569=)
NM_000419.5(ITGA2B):c.1716C>T (p.His572=)
NM_000419.5(ITGA2B):c.1727G>C (p.Cys576Ser)
NM_000419.5(ITGA2B):c.1728C>T (p.Cys576=)
NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn)
NM_000419.5(ITGA2B):c.1729C>T (p.His577Tyr)
NM_000419.5(ITGA2B):c.1742C>A (p.Ala581Asp) rs2143458780
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000419.5(ITGA2B):c.1751G>A (p.Arg584Gln)
NM_000419.5(ITGA2B):c.1752+11G>A
NM_000419.5(ITGA2B):c.1752+4C>T
NM_000419.5(ITGA2B):c.1753-1G>A rs2048578129
NM_000419.5(ITGA2B):c.1753-8del
NM_000419.5(ITGA2B):c.1756G>A (p.Glu586Lys)
NM_000419.5(ITGA2B):c.175del (p.Asp59fs)
NM_000419.5(ITGA2B):c.176A>G (p.Asp59Gly) rs2143506303
NM_000419.5(ITGA2B):c.1770G>A (p.Arg590=)
NM_000419.5(ITGA2B):c.1771dup (p.Asp591fs)
NM_000419.5(ITGA2B):c.1793T>C (p.Leu598Pro)
NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=) rs5912
NM_000419.5(ITGA2B):c.1815G>C (p.Pro605=)
NM_000419.5(ITGA2B):c.1818C>T (p.Pro606=)
NM_000419.5(ITGA2B):c.1827T>C (p.Ala609=)
NM_000419.5(ITGA2B):c.1833G>A (p.Met611Ile)
NM_000419.5(ITGA2B):c.1878+12C>A
NM_000419.5(ITGA2B):c.1878+17A>G
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) rs80277041
NM_000419.5(ITGA2B):c.1879-2A>G rs77229108
NM_000419.5(ITGA2B):c.1879-31_1879-14dup
NM_000419.5(ITGA2B):c.1879-5del
NM_000419.5(ITGA2B):c.1879-8C>T
NM_000419.5(ITGA2B):c.188+12G>A
NM_000419.5(ITGA2B):c.188+17G>A
NM_000419.5(ITGA2B):c.188+18T>C
NM_000419.5(ITGA2B):c.188+1G>A
NM_000419.5(ITGA2B):c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA
NM_000419.5(ITGA2B):c.188+484_892-70delinsCAATCCCACA
NM_000419.5(ITGA2B):c.188+5G>T rs1598385156
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.188+8G>C
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000419.5(ITGA2B):c.188G>A (p.Arg63Lys) rs767688038
NM_000419.5(ITGA2B):c.189-11T>G
NM_000419.5(ITGA2B):c.189-18C>G
NM_000419.5(ITGA2B):c.189-1G>C
NM_000419.5(ITGA2B):c.189-319_236del
NM_000419.5(ITGA2B):c.189-7T>A
NM_000419.5(ITGA2B):c.1899del (p.Cys633fs)
NM_000419.5(ITGA2B):c.1900G>A (p.Gly634Arg)
NM_000419.5(ITGA2B):c.1911C>G (p.Asp637Glu)
NM_000419.5(ITGA2B):c.1911C>T (p.Asp637=)
NM_000419.5(ITGA2B):c.1912G>A (p.Val638Ile)
NM_000419.5(ITGA2B):c.1919_1920del (p.Val640fs) rs2143452404
NM_000419.5(ITGA2B):c.1922C>T (p.Pro641Leu)
NM_000419.5(ITGA2B):c.1923C>T (p.Pro641=)
NM_000419.5(ITGA2B):c.1944C>T (p.Ser648=)
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402
NM_000419.5(ITGA2B):c.1946+14C>G
NM_000419.5(ITGA2B):c.1946+2T>G
NM_000419.5(ITGA2B):c.1946+3G>T
NM_000419.5(ITGA2B):c.1947-12_1947-11del
NM_000419.5(ITGA2B):c.1947-14C>A
NM_000419.5(ITGA2B):c.1947-2A>G
NM_000419.5(ITGA2B):c.1947-9T>C
NM_000419.5(ITGA2B):c.1949C>T (p.Thr650Met)
NM_000419.5(ITGA2B):c.194_202del (p.Ala65_Val67del)
NM_000419.5(ITGA2B):c.1960C>T (p.Leu654Phe)
NM_000419.5(ITGA2B):c.1973del (p.Ala658fs) rs1598378490
NM_000419.5(ITGA2B):c.1980T>C (p.Asn660=)
NM_000419.5(ITGA2B):c.1993C>T (p.Gln665Ter) rs1472992102
NM_000419.5(ITGA2B):c.1999G>A (p.Asp667Asn)
NM_000419.5(ITGA2B):c.1999dup (p.Asp667fs)
NM_000419.5(ITGA2B):c.199G>A (p.Val67Met)
NM_000419.5(ITGA2B):c.2001C>T (p.Asp667=)
NM_000419.5(ITGA2B):c.2002G>A (p.Ala668Thr)
NM_000419.5(ITGA2B):c.2009A>G (p.Asn670Ser)
NM_000419.5(ITGA2B):c.2010C>A (p.Asn670Lys)
NM_000419.5(ITGA2B):c.2010C>G (p.Asn670Lys)
NM_000419.5(ITGA2B):c.2015del (p.Gly672fs) rs2143451028
NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)
NM_000419.5(ITGA2B):c.2019G>C (p.Glu673Asp)
NM_000419.5(ITGA2B):c.2029G>A (p.Glu677Lys) rs2143450843
NM_000419.5(ITGA2B):c.202G>A (p.Val68Met) rs2048647163
NM_000419.5(ITGA2B):c.2033C>T (p.Ala678Val)
NM_000419.5(ITGA2B):c.2043C>T (p.Ala681=)
NM_000419.5(ITGA2B):c.2044G>A (p.Val682Met)
NM_000419.5(ITGA2B):c.2045T>A (p.Val682Glu)
NM_000419.5(ITGA2B):c.2051T>G (p.Leu684Arg) rs2143450670
NM_000419.5(ITGA2B):c.2052G>C (p.Leu684=)
NM_000419.5(ITGA2B):c.2053C>A (p.Pro685Thr)
NM_000419.5(ITGA2B):c.205G>A (p.Gly69Ser)
NM_000419.5(ITGA2B):c.2061C>T (p.Gly687=)
NM_000419.5(ITGA2B):c.2063C>T (p.Ala688Val) rs1245816431
NM_000419.5(ITGA2B):c.2064C>T (p.Ala688=)
NM_000419.5(ITGA2B):c.2077G>A (p.Ala693Thr)
NM_000419.5(ITGA2B):c.2082A>G (p.Leu694=)
NM_000419.5(ITGA2B):c.2094+10C>A
NM_000419.5(ITGA2B):c.2094+2T>C rs1555613692
NM_000419.5(ITGA2B):c.2094+7C>T
NM_000419.5(ITGA2B):c.2095-19T>A rs2143447856
NM_000419.5(ITGA2B):c.2095-8T>C
NM_000419.5(ITGA2B):c.209C>T (p.Ala70Val)
NM_000419.5(ITGA2B):c.2122AAG[1] (p.Lys709del)
NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg)
NM_000419.5(ITGA2B):c.2133T>G (p.Asn711Lys)
NM_000419.5(ITGA2B):c.2139C>T (p.Thr713=) rs1598378000
NM_000419.5(ITGA2B):c.2143G>A (p.Val715Met)
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) rs1598377980
NM_000419.5(ITGA2B):c.214C>T (p.Arg72Trp)
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) rs2048557642
NM_000419.5(ITGA2B):c.2159T>C (p.Leu720Pro) rs2048557572
NM_000419.5(ITGA2B):c.2162G>A (p.Gly721Asp)
NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile) rs2143447323
NM_000419.5(ITGA2B):c.2172GAA[2] (p.Lys726del)
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.2183C>T (p.Ala728Val)
NM_000419.5(ITGA2B):c.2187+17G>A
NM_000419.5(ITGA2B):c.2187+18T>G
NM_000419.5(ITGA2B):c.2187+20G>C
NM_000419.5(ITGA2B):c.2187+6G>T
NM_000419.5(ITGA2B):c.2188-7C>T
NM_000419.5(ITGA2B):c.2189T>G (p.Ile730Arg)
NM_000419.5(ITGA2B):c.2199G>A (p.Ala733=)
NM_000419.5(ITGA2B):c.21_22del (p.Leu8fs) rs2143507418
NM_000419.5(ITGA2B):c.2201T>A (p.Met734Lys)
NM_000419.5(ITGA2B):c.2202G>A (p.Met734Ile)
NM_000419.5(ITGA2B):c.2206G>T (p.Val736Leu)
NM_000419.5(ITGA2B):c.2212G>A (p.Val738Met)
NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter) rs2048550784
NM_000419.5(ITGA2B):c.2242G>A (p.Val748Met)
NM_000419.5(ITGA2B):c.224del (p.Gly75fs) rs1567906131
NM_000419.5(ITGA2B):c.2254C>G (p.Leu752Val)
NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg)
NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)
NM_000419.5(ITGA2B):c.2264G>C (p.Arg755Pro) rs763762304
NM_000419.5(ITGA2B):c.2267+14G>A
NM_000419.5(ITGA2B):c.2267+18G>A
NM_000419.5(ITGA2B):c.2267+1G>T rs2048550327
NM_000419.5(ITGA2B):c.2268-9C>G
NM_000419.5(ITGA2B):c.2290del (p.Ser764fs)
NM_000419.5(ITGA2B):c.2291_2292delinsAA (p.Ser764Lys)
NM_000419.5(ITGA2B):c.230G>A (p.Ser77Asn) rs886053010
NM_000419.5(ITGA2B):c.2310C>T (p.Asp770=)
NM_000419.5(ITGA2B):c.2311G>A (p.Val771Met)
NM_000419.5(ITGA2B):c.2311G>T (p.Val771Leu) rs368953599
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.2316G>A (p.Pro772=)
NM_000419.5(ITGA2B):c.2320C>T (p.Arg774Trp)
NM_000419.5(ITGA2B):c.2321G>A (p.Arg774Gln)
NM_000419.5(ITGA2B):c.2326_2331dup (p.Glu776_Ala777dup) rs2143440798
NM_000419.5(ITGA2B):c.2330C>A (p.Ala777Asp) rs2048543938
NM_000419.5(ITGA2B):c.2336T>C (p.Val779Ala)
NM_000419.5(ITGA2B):c.2338G>A (p.Glu780Lys)
NM_000419.5(ITGA2B):c.2338del (p.Glu780fs) rs2143440696
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2347G>A (p.Gly783Arg)
NM_000419.5(ITGA2B):c.2348+14G>A
NM_000419.5(ITGA2B):c.2348+17G>T
NM_000419.5(ITGA2B):c.2348+5G>C rs776442328
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2349-3C>T
NM_000419.5(ITGA2B):c.2364C>T (p.Ala788=)
NM_000419.5(ITGA2B):c.2367C>T (p.Ser789=)
NM_000419.5(ITGA2B):c.2368C>T (p.Leu790=)
NM_000419.5(ITGA2B):c.2374del (p.Val792fs)
NM_000419.5(ITGA2B):c.2377G>A (p.Ala793Thr)
NM_000419.5(ITGA2B):c.2384AAG[1] (p.Glu796del)
NM_000419.5(ITGA2B):c.2390del (p.Gly797fs)
NM_000419.5(ITGA2B):c.2396G>C (p.Arg799Thr)
NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs) rs2048646560
NM_000419.5(ITGA2B):c.2415_2416del (p.Asp805fs)
NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter) rs2143439415
NM_000419.5(ITGA2B):c.2422G>A (p.Gly808Arg)
NM_000419.5(ITGA2B):c.2426C>T (p.Pro809Leu)
NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn) rs1196551352
NM_000419.5(ITGA2B):c.2438A>C (p.His813Pro)
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) rs2048541187
NM_000419.5(ITGA2B):c.2444_2445del (p.Thr814_Tyr815insTer) rs2143439241
NM_000419.5(ITGA2B):c.2448+16G>A
NM_000419.5(ITGA2B):c.2448+17C>T
NM_000419.5(ITGA2B):c.2448+4T>C
NM_000419.5(ITGA2B):c.2449-1G>C
NM_000419.5(ITGA2B):c.2459del (p.Asn820fs) rs2143438540
NM_000419.5(ITGA2B):c.245dup (p.Gly83fs) rs2143491610
NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu) rs1166506747
NM_000419.5(ITGA2B):c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACCAG (p.Val825fs)
NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC (p.Val825fs) rs2048539289
NM_000419.5(ITGA2B):c.2478dup (p.Gly827fs)
NM_000419.5(ITGA2B):c.2480G>T (p.Gly827Val)
NM_000419.5(ITGA2B):c.2489T>G (p.Leu830Arg)
NM_000419.5(ITGA2B):c.248G>A (p.Gly83Asp)
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2505G>A (p.Pro835=)
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala) rs759664025
NM_000419.5(ITGA2B):c.2510A>G (p.Gln837Arg)
NM_000419.5(ITGA2B):c.2520C>T (p.Pro840=)
NM_000419.5(ITGA2B):c.2521T>C (p.Ser841Pro)
NM_000419.5(ITGA2B):c.2529G>A (p.Leu843=)
NM_000419.5(ITGA2B):c.2540T>C (p.Leu847Pro)
NM_000419.5(ITGA2B):c.2555del (p.Gln852fs)
NM_000419.5(ITGA2B):c.2556G>C (p.Gln852His) rs2048538187
NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)
NM_000419.5(ITGA2B):c.2562C>A (p.Gly854=)
NM_000419.5(ITGA2B):c.2565T>C (p.Leu855=)
NM_000419.5(ITGA2B):c.2568G>T (p.Gln856His)
NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg) rs1598376647
NM_000419.5(ITGA2B):c.2570G>T (p.Cys857Phe) rs1242785708
NM_000419.5(ITGA2B):c.2575C>T (p.Pro859Ser)
NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter) rs2143437407
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.258G>C (p.Leu86=)
NM_000419.5(ITGA2B):c.2592C>A (p.Asn864Lys)
NM_000419.5(ITGA2B):c.2594C>T (p.Pro865Leu)
NM_000419.5(ITGA2B):c.2602-16T>A
NM_000419.5(ITGA2B):c.2602-17C>G
NM_000419.5(ITGA2B):c.2602-2A>G rs2143436505
NM_000419.5(ITGA2B):c.2602-3C>A rs763330792
NM_000419.5(ITGA2B):c.2602-3C>T
NM_000419.5(ITGA2B):c.2602-5C>A
NM_000419.5(ITGA2B):c.2613G>A (p.Gly871=)
NM_000419.5(ITGA2B):c.2613del (p.Leu872fs) rs2048535976
NM_000419.5(ITGA2B):c.2616G>A (p.Leu872=)
NM_000419.5(ITGA2B):c.2637del (p.Ile880fs) rs2048535487
NM_000419.5(ITGA2B):c.2646G>A (p.Pro882=)
NM_000419.5(ITGA2B):c.2660G>A (p.Arg887Gln)
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) rs2048646082
NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) rs200846140
NM_000419.5(ITGA2B):c.2673_2674dup (p.Ile892fs) rs2143435739
NM_000419.5(ITGA2B):c.2674del (p.Ile892fs)
NM_000419.5(ITGA2B):c.2685A>G (p.Pro895=)
NM_000419.5(ITGA2B):c.2691C>T (p.Pro897=)
NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)
NM_000419.5(ITGA2B):c.2702C>T (p.Ser901Leu) rs2048534441
NM_000419.5(ITGA2B):c.2725G>C (p.Val909Leu)
NM_000419.5(ITGA2B):c.2727+14C>G
NM_000419.5(ITGA2B):c.2727+19C>T
NM_000419.5(ITGA2B):c.2728-12G>T
NM_000419.5(ITGA2B):c.2728-16C>G
NM_000419.5(ITGA2B):c.2728-20C>T
NM_000419.5(ITGA2B):c.2728-3C>T
NM_000419.5(ITGA2B):c.2741C>A (p.Ala914Glu)
NM_000419.5(ITGA2B):c.2742G>A (p.Ala914=)
NM_000419.5(ITGA2B):c.2747G>A (p.Cys916Tyr)
NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs) rs76572092
NM_000419.5(ITGA2B):c.2761T>C (p.Cys921Arg)
NM_000419.5(ITGA2B):c.2767C>G (p.Leu923Val)
NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter) rs2143432066
NM_000419.5(ITGA2B):c.2772G>A (p.Gln924=)
NM_000419.5(ITGA2B):c.2773G>C (p.Glu925Gln)
NM_000419.5(ITGA2B):c.2794G>A (p.Ala932Thr)
NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe) rs77458039
NM_000419.5(ITGA2B):c.2806G>A (p.Val936Met)
NM_000419.5(ITGA2B):c.2817C>T (p.Phe939=)
NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)
NM_000419.5(ITGA2B):c.2828C>T (p.Pro943Leu)
NM_000419.5(ITGA2B):c.2841+13G>A
NM_000419.5(ITGA2B):c.2841+13_2841+33del
NM_000419.5(ITGA2B):c.2841+17T>G
NM_000419.5(ITGA2B):c.2841+1GTGGG[3]
NM_000419.5(ITGA2B):c.2842-1G>C
NM_000419.5(ITGA2B):c.2850G>A (p.Leu950=)
NM_000419.5(ITGA2B):c.2852_2853delinsC (p.Asp951fs) rs2048524745
NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln) rs2048524687
NM_000419.5(ITGA2B):c.286T>A (p.Cys96Ser)
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=) rs759462215
NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) rs1598375779
NM_000419.5(ITGA2B):c.2898_2902dup (p.Tyr968fs) rs2143429307
NM_000419.5(ITGA2B):c.2902del (p.Tyr968fs) rs2143429292
NM_000419.5(ITGA2B):c.2911C>A (p.Pro971Thr)
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) rs781644489
NM_000419.5(ITGA2B):c.291del (p.Ser98fs) rs2048645725
NM_000419.5(ITGA2B):c.2929_2930del (p.Glu979fs) rs2143428858
NM_000419.5(ITGA2B):c.2930G>A (p.Arg977Gln)
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs) rs2048523431
NM_000419.5(ITGA2B):c.2933G>T (p.Gly978Val)
NM_000419.5(ITGA2B):c.2935G>T (p.Glu979Ter)
NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter)
NM_000419.5(ITGA2B):c.2943+11G>A
NM_000419.5(ITGA2B):c.2943+18G>A
NM_000419.5(ITGA2B):c.2943+3G>T
NM_000419.5(ITGA2B):c.2943+9G>A
NM_000419.5(ITGA2B):c.2943G>A (p.Gln981=)
NM_000419.5(ITGA2B):c.2944-17C>T
NM_000419.5(ITGA2B):c.2944-7C>T
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys) rs2048521744
NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter) rs2143427792
NM_000419.5(ITGA2B):c.2962C>T (p.Arg988Trp)
NM_000419.5(ITGA2B):c.2963G>A (p.Arg988Gln) rs368536313
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.2975_2979del (p.Glu992fs) rs2048521407
NM_000419.5(ITGA2B):c.2975del (p.Glu992fs) rs1467071163
NM_000419.5(ITGA2B):c.2979G>A (p.Arg993=)
NM_000419.5(ITGA2B):c.2982del (p.Ile995fs) rs2143427606
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.2993G>T (p.Trp998Leu)
NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter)
NM_000419.5(ITGA2B):c.3000G>C (p.Val1000=)
NM_000419.5(ITGA2B):c.3001_3010dup (p.Val1004fs)
NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs) rs1291802895
NM_000419.5(ITGA2B):c.3020G>T (p.Gly1007Val) rs2143427279
NM_000419.5(ITGA2B):c.3030G>A (p.Leu1010=)
NM_000419.5(ITGA2B):c.3060+16C>T
NM_000419.5(ITGA2B):c.3060+17G>A
NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=) rs757268030
NM_000419.5(ITGA2B):c.3061-13C>T
NM_000419.5(ITGA2B):c.3061-1G>A
NM_000419.5(ITGA2B):c.3061-5C>T
NM_000419.5(ITGA2B):c.3061-6C>G
NM_000419.5(ITGA2B):c.3061G>T (p.Val1021Phe)
NM_000419.5(ITGA2B):c.3062T>C (p.Val1021Ala) rs2143417795
NM_000419.5(ITGA2B):c.3070T>A (p.Phe1024Ile)
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala) rs2048505090
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.3082C>T (p.Arg1028Trp)
NM_000419.5(ITGA2B):c.3083G>A (p.Arg1028Gln)
NM_000419.5(ITGA2B):c.3090C>G (p.Pro1030=) rs1393382106
NM_000419.5(ITGA2B):c.3091del (p.Leu1031fs)
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
NM_000419.5(ITGA2B):c.30C>T (p.Ala10=)
NM_000419.5(ITGA2B):c.310+12G>A
NM_000419.5(ITGA2B):c.310+17G>A
NM_000419.5(ITGA2B):c.310+1G>A
NM_000419.5(ITGA2B):c.310+3_310+6del
NM_000419.5(ITGA2B):c.3101A>T (p.Asp1034Val)
NM_000419.5(ITGA2B):c.311-17C>T
NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?) rs2048504402
NM_000419.5(ITGA2B):c.311G>T (p.Arg104Leu)
NM_000419.5(ITGA2B):c.316G>A (p.Glu106Lys)
NM_000419.5(ITGA2B):c.318G>C (p.Glu106Asp)
NM_000419.5(ITGA2B):c.322C>A (p.Arg108=) rs1598383383
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.351C>T (p.Thr117=)
NM_000419.5(ITGA2B):c.361C>T (p.Arg121Cys)
NM_000419.5(ITGA2B):c.375G>A (p.Gly125=) rs2048643952
NM_000419.5(ITGA2B):c.378G>A (p.Ala126=)
NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu)
NM_000419.5(ITGA2B):c.408+11C>A rs768343439
NM_000419.5(ITGA2B):c.408+11C>T
NM_000419.5(ITGA2B):c.408+14T>C
NM_000419.5(ITGA2B):c.408+7C>T
NM_000419.5(ITGA2B):c.409-2_419del rs879255508
NM_000419.5(ITGA2B):c.409-3C>G rs2143489585
NM_000419.5(ITGA2B):c.413G>T (p.Cys138Phe)
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) rs2048642260
NM_000419.5(ITGA2B):c.416C>T (p.Ala139Val) rs2143489510
NM_000419.5(ITGA2B):c.420C>A (p.Pro140=)
NM_000419.5(ITGA2B):c.423G>T (p.Trp141Cys) rs2143489430
NM_000419.5(ITGA2B):c.432G>A (p.Trp144Ter) rs2143489377
NM_000419.5(ITGA2B):c.435C>A (p.Asn145Lys) rs1433566887
NM_000419.5(ITGA2B):c.441A>G (p.Leu147=)
NM_000419.5(ITGA2B):c.444A>C (p.Glu148Asp)
NM_000419.5(ITGA2B):c.454G>A (p.Glu152Lys)
NM_000419.5(ITGA2B):c.460_462del (p.Glu154del) rs747956782
NM_000419.5(ITGA2B):c.470C>A (p.Pro157His)
NM_000419.5(ITGA2B):c.475G>A (p.Gly159Ser)
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) rs2048641442
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg) rs1279297832
NM_000419.5(ITGA2B):c.480del (p.Cys161fs)
NM_000419.5(ITGA2B):c.483C>G (p.Cys161Trp)
NM_000419.5(ITGA2B):c.48G>A (p.Trp16Ter)
NM_000419.5(ITGA2B):c.495G>T (p.Gln165His)
NM_000419.5(ITGA2B):c.49G>A (p.Val17Met)
NM_000419.5(ITGA2B):c.501G>T (p.Glu167Asp)
NM_000419.5(ITGA2B):c.505G>A (p.Gly169Ser)
NM_000419.5(ITGA2B):c.511C>T (p.Arg171Cys)
NM_000419.5(ITGA2B):c.513C>G (p.Arg171=)
NM_000419.5(ITGA2B):c.517G>T (p.Glu173Ter)
NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His)
NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)
NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu) rs148327798
NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter) rs79713558
NM_000419.5(ITGA2B):c.533G>C (p.Arg178Pro)
NM_000419.5(ITGA2B):c.539del (p.Asn180fs)
NM_000419.5(ITGA2B):c.551G>T (p.Arg184Leu)
NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met) rs2048639927
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.560T>C (p.Val187Ala) rs2048639767
NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val) rs2048639566
NM_000419.5(ITGA2B):c.574+15C>T
NM_000419.5(ITGA2B):c.574+18C>T
NM_000419.5(ITGA2B):c.574+20T>C
NM_000419.5(ITGA2B):c.574+3A>G
NM_000419.5(ITGA2B):c.574+5G>A rs1598383011
NM_000419.5(ITGA2B):c.574+5G>C rs1598383011
NM_000419.5(ITGA2B):c.575-10T>A
NM_000419.5(ITGA2B):c.575-1_575insGGACAA (p.Phe191_Ser192insArgThr)
NM_000419.5(ITGA2B):c.575-21CCT[2]
NM_000419.5(ITGA2B):c.575-2A>T
NM_000419.5(ITGA2B):c.575-3C>A
NM_000419.5(ITGA2B):c.580G>A (p.Asp194Asn) rs1477253720
NM_000419.5(ITGA2B):c.588T>C (p.Arg196=)
NM_000419.5(ITGA2B):c.590A>G (p.Tyr197Cys) rs2143486113
NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)
NM_000419.5(ITGA2B):c.599C>T (p.Ala200Val)
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser) rs2048635741
NM_000419.5(ITGA2B):c.605T>G (p.Phe202Cys)
NM_000419.5(ITGA2B):c.617T>A (p.Val206Asp)
NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile) rs2143485911
NM_000419.5(ITGA2B):c.624+17del
NM_000419.5(ITGA2B):c.624+2C>A rs2048635467
NM_000419.5(ITGA2B):c.624+6T>C
NM_000419.5(ITGA2B):c.625-1G>A rs2143485431
NM_000419.5(ITGA2B):c.626C>T (p.Ala209Val) rs143284768
NM_000419.5(ITGA2B):c.628G>C (p.Gly210Arg) rs886053009
NM_000419.5(ITGA2B):c.637G>A (p.Val213Met)
NM_000419.5(ITGA2B):c.641T>G (p.Leu214Arg) rs137852911
NM_000419.5(ITGA2B):c.647C>T (p.Ala216Val) rs2143485154
NM_000419.5(ITGA2B):c.655G>A (p.Gly219Ser)
NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys) rs1355838837
NM_000419.5(ITGA2B):c.666C>A (p.Phe222Leu)
NM_000419.5(ITGA2B):c.670+15G>T
NM_000419.5(ITGA2B):c.670+20C>T
NM_000419.5(ITGA2B):c.670+6T>G
NM_000419.5(ITGA2B):c.670G>A (p.Gly224Ser)
NM_000419.5(ITGA2B):c.671-10C>G
NM_000419.5(ITGA2B):c.671-1G>A rs2048632400
NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) rs2048632227
NM_000419.5(ITGA2B):c.685G>A (p.Ala229Thr)
NM_000419.5(ITGA2B):c.68C>A (p.Pro23His) rs201184269
NM_000419.5(ITGA2B):c.693dup (p.Ala232fs) rs2048632055
NM_000419.5(ITGA2B):c.700A>G (p.Ile234Val)
NM_000419.5(ITGA2B):c.727del (p.Leu243fs) rs2143484108
NM_000419.5(ITGA2B):c.730T>C (p.Leu244=)
NM_000419.5(ITGA2B):c.786C>T (p.Phe262=)
NM_000419.5(ITGA2B):c.793T>C (p.Tyr265His)
NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) rs483352692
NM_000419.5(ITGA2B):c.799+20C>T
NM_000419.5(ITGA2B):c.799+2T>C rs1194700242
NM_000419.5(ITGA2B):c.800-1G>A
NM_000419.5(ITGA2B):c.800-2A>G rs2143481938
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala) rs2048627164
NM_000419.5(ITGA2B):c.804C>T (p.Tyr268=)
NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly) rs2143481840
NM_000419.5(ITGA2B):c.813C>T (p.Ala271=)
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.819C>T (p.Gly273=)
NM_000419.5(ITGA2B):c.822G>C (p.Glu274Asp)
NM_000419.5(ITGA2B):c.832del (p.Asp278fs)
NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile) rs2143481657
NM_000419.5(ITGA2B):c.855dup (p.Val286fs)
NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp) rs2143480810
NM_000419.5(ITGA2B):c.859G>A (p.Gly287Ser)
NM_000419.5(ITGA2B):c.859G>C (p.Gly287Arg)
NM_000419.5(ITGA2B):c.860G>A (p.Gly287Asp)
NM_000419.5(ITGA2B):c.879G>A (p.Trp293Ter)
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.887G>A (p.Gly296Glu)
NM_000419.5(ITGA2B):c.889G>A (p.Ala297Thr)
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_000419.5(ITGA2B):c.891+14C>G
NM_000419.5(ITGA2B):c.891+16A>C
NM_000419.5(ITGA2B):c.891+5G>T
NM_000419.5(ITGA2B):c.892-13G>A
NM_000419.5(ITGA2B):c.892-20C>T
NM_000419.5(ITGA2B):c.892-5T>A
NM_000419.5(ITGA2B):c.89G>A (p.Trp30Ter) rs1131692013
NM_000419.5(ITGA2B):c.902T>C (p.Leu301Ser)
NM_000419.5(ITGA2B):c.908C>A (p.Ser303Tyr)
NM_000419.5(ITGA2B):c.91G>A (p.Ala31Thr)
NM_000419.5(ITGA2B):c.91del (p.Ala31fs) rs2048678902
NM_000419.5(ITGA2B):c.941A>G (p.Glu314Gly)
NM_000419.5(ITGA2B):c.945+10A>G rs886053008
NM_000419.5(ITGA2B):c.945+6G>A
NM_000419.5(ITGA2B):c.946-12C>T
NM_000419.5(ITGA2B):c.946-18G>C
NM_000419.5(ITGA2B):c.946-19G>A
NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu)
NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter) rs2143478260
NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser)
NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp) rs2048619921
NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val) rs2048619898
NM_000419.5(ITGA2B):c.964C>T (p.His322Tyr) rs1376804511
NM_000419.5(ITGA2B):c.966T>C (p.His322=)
NM_000419.5(ITGA2B):c.970G>A (p.Val324Met)
NM_000419.5(ITGA2B):c.976G>A (p.Val326Ile)
NM_000419.5(ITGA2B):c.978C>T (p.Val326=)
NM_000419.5(ITGA2B):c.97A>G (p.Asn33Asp)
NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe) rs2048619428
NM_000419.5(ITGA2B):c.989A>T (p.Asn330Ile)
NM_000419.5(ITGA2B):c.992G>A (p.Gly331Glu)
NM_000419.5(ITGA2B):c.998+15G>T
NM_000419.5(ITGA2B):c.998+19C>T
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778
NM_000419.5(ITGA2B):c.998+8G>C
NM_000419.5(ITGA2B):c.998G>A (p.Gly333Glu)
NM_000488.4(SERPINC1):c.-175_-174delTA
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
NM_000488.4(SERPINC1):c.1008G>C (p.Leu336=)
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
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)
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) rs2102782517
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)
NM_000488.4(SERPINC1):c.105C>T (p.Ser35=)
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs) rs863224495
NM_000488.4(SERPINC1):c.1063T>G (p.Phe355Val)
NM_000488.4(SERPINC1):c.1077C>T (p.Asp359=)
NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)
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)
NM_000488.4(SERPINC1):c.1107C>T (p.Asp369=)
NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1152A>G (p.Pro384=)
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
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1154-14G>C
NM_000488.4(SERPINC1):c.1154-15C>T
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)
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
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)
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) rs2102778910
NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)
NM_000488.4(SERPINC1):c.1205del (p.Lys402fs) rs2102778876
NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn) rs920003404
NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
NM_000488.4(SERPINC1):c.1218+11C>T
NM_000488.4(SERPINC1):c.1219-16C>T
NM_000488.4(SERPINC1):c.1219-1G>A
NM_000488.4(SERPINC1):c.1219-2A>G rs2102773374
NM_000488.4(SERPINC1):c.1219-8A>G
NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg) rs2102773346
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
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)
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.1273C>T (p.Arg425Cys) rs121909554
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)
NM_000488.4(SERPINC1):c.1284C>T (p.Asn428=)
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys) rs1572084546
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
NM_000488.4(SERPINC1):c.1312A>G (p.Arg438Gly)
NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)
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.132G>A (p.Pro44=)
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys) rs2102773041
NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=)
NM_000488.4(SERPINC1):c.1350C>T (p.Asn450=)
NM_000488.4(SERPINC1):c.1351_1352dup (p.Ile452fs)
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
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.138C>T (p.Asp46=)
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln) rs1572084425
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
NM_000488.4(SERPINC1):c.155del (p.Met52fs) rs1572092103
NM_000488.4(SERPINC1):c.15G>T (p.Val5=)
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.171C>T (p.Ser57=)
NM_000488.4(SERPINC1):c.173dup (p.Glu59fs) rs1572092076
NM_000488.4(SERPINC1):c.174G>A (p.Pro58=)
NM_000488.4(SERPINC1):c.17T>C (p.Ile6Thr)
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
NM_000488.4(SERPINC1):c.223G>A (p.Ala75Thr)
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)
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser) rs2102789848
NM_000488.4(SERPINC1):c.265_266delinsGC (p.Arg89Ala)
NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs)
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)
NM_000488.4(SERPINC1):c.280_283del (p.Phe94fs)
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His) rs1657913203
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu) rs2102789784
NM_000488.4(SERPINC1):c.30C>A (p.Thr10=)
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)
NM_000488.4(SERPINC1):c.333A>G (p.Ser111=) rs2102789680
NM_000488.4(SERPINC1):c.337C>T (p.Leu113=)
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn) rs1657909645
NM_000488.4(SERPINC1):c.342T>C (p.Ser114=)
NM_000488.4(SERPINC1):c.345C>T (p.Ile115=)
NM_000488.4(SERPINC1):c.351G>A (p.Thr117=)
NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile) rs371222224
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.370C>T (p.Leu124=)
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
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)
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.409-11G>T
NM_000488.4(SERPINC1):c.409-12del rs201656611
NM_000488.4(SERPINC1):c.409-12dup rs201656611
NM_000488.4(SERPINC1):c.409-1G>C
NM_000488.4(SERPINC1):c.409-1G>T
NM_000488.4(SERPINC1):c.409-8T>C
NM_000488.4(SERPINC1):c.41+12G>A
NM_000488.4(SERPINC1):c.41+297_55del
NM_000488.4(SERPINC1):c.41+3A>T
NM_000488.4(SERPINC1):c.41+5G>A
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
NM_000488.4(SERPINC1):c.42-15T>C
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)
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)
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)
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.551T>C (p.Leu184Pro)
NM_000488.4(SERPINC1):c.553A>G (p.Thr185Ala) rs574547491
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)
NM_000488.4(SERPINC1):c.569A>G (p.Tyr190Cys)
NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)
NM_000488.4(SERPINC1):c.591A>G (p.Val197=)
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)
NM_000488.4(SERPINC1):c.624+18C>T
NM_000488.4(SERPINC1):c.624+1G>A rs1572090079
NM_000488.4(SERPINC1):c.624+5_624+12del
NM_000488.4(SERPINC1):c.624+9C>T
NM_000488.4(SERPINC1):c.625-5C>G
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)
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.669C>A (p.Ser223=)
NM_000488.4(SERPINC1):c.670A>C (p.Asn224His)
NM_000488.4(SERPINC1):c.678C>G (p.Thr226=)
NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)
NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)
NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro) rs387906575
NM_000488.4(SERPINC1):c.693C>A (p.Thr231=)
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.705C>G (p.Pro235=)
NM_000488.4(SERPINC1):c.719dup (p.Asn240fs) rs2102784614
NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)
NM_000488.4(SERPINC1):c.74G>A (p.Gly25Asp)
NM_000488.4(SERPINC1):c.750C>A (p.Thr250=) rs1018454989
NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
NM_000488.4(SERPINC1):c.762+19G>C
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)
NM_000488.4(SERPINC1):c.779dup (p.Phe261fs) rs1572088837
NM_000488.4(SERPINC1):c.790G>C (p.Glu264Gln)
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys) rs1572088824
NM_000488.4(SERPINC1):c.79T>C (p.Trp27Arg)
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.834G>A (p.Ser278=)
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)
NM_000488.4(SERPINC1):c.851T>G (p.Met284Arg) rs1572088737
NM_000488.4(SERPINC1):c.857A>C (p.Gln286Pro)
NM_000488.4(SERPINC1):c.858G>C (p.Gln286His)
NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val) rs1404578967
NM_000488.4(SERPINC1):c.873T>C (p.Arg291=)
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
NM_000488.4(SERPINC1):c.876T>C (p.Tyr292=)
NM_000488.4(SERPINC1):c.878G>A (p.Arg293Gln)
NM_000488.4(SERPINC1):c.882C>G (p.Arg294=) rs184508490
NM_000488.4(SERPINC1):c.882C>T (p.Arg294=)
NM_000488.4(SERPINC1):c.885G>T (p.Val295=)
NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
NM_000488.4(SERPINC1):c.894C>T (p.Gly298=)
NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)
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)
NM_000504.4(F10):c.-10C>G rs757542867
NM_000504.4(F10):c.1036C>T (p.Arg346Cys)
NM_000504.4(F10):c.1043G>A (p.Trp348Ter) rs1566922655
NM_000504.4(F10):c.107C>A (p.Ala36Glu) rs2036405879
NM_000504.4(F10):c.1087G>A (p.Gly363Ser) rs1595099527
NM_000504.4(F10):c.1094G>C (p.Gly365Ala)
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.1115G>C (p.Arg372Pro) rs142699098
NM_000504.4(F10):c.1120T>C (p.Ser374Pro) rs121964941
NM_000504.4(F10):c.119G>C (p.Arg40Thr)
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) rs1595099645
NM_000504.4(F10):c.1216G>A (p.Gly406Ser) rs376163818
NM_000504.4(F10):c.1237G>A (p.Asp413Asn) rs1595099677
NM_000504.4(F10):c.1252G>C (p.Asp418His) rs2138557799
NM_000504.4(F10):c.1321G>A (p.Glu441Lys) rs1305872315
NM_000504.4(F10):c.1325G>A (p.Gly442Asp) rs1233330150
NM_000504.4(F10):c.1331C>T (p.Ala444Val)
NM_000504.4(F10):c.1347C>T (p.Tyr449=) rs1432439347
NM_000504.4(F10):c.1348G>A (p.Gly450Arg) rs1595099844
NM_000504.4(F10):c.1387G>C (p.Asp463His) rs1476602298
NM_000504.4(F10):c.1406G>A (p.Arg469Lys) rs771971250
NM_000504.4(F10):c.152G>A (p.Gly51Glu) rs751782758
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.162_163del (p.Glu56fs) rs749213415
NM_000504.4(F10):c.167A>G (p.Glu56Gly)
NM_000504.4(F10):c.183_184delinsTTGCTCATACGAAGAGGCCC (p.Arg68_Glu69insSerTyrGluGluAlaArg)
NM_000504.4(F10):c.205G>A (p.Glu69Lys) rs1325135019
NM_000504.4(F10):c.212T>C (p.Phe71Ser)
NM_000504.4(F10):c.214G>C (p.Glu72Gln) rs121964945
NM_000504.4(F10):c.231G>C (p.Thr77=) rs201932014
NM_000504.4(F10):c.232-2563_503-451del
NM_000504.4(F10):c.241T>G (p.Trp81Gly) rs1595092916
NM_000504.4(F10):c.248_251del (p.Lys83fs)
NM_000504.4(F10):c.256G>A (p.Asp86Asn)
NM_000504.4(F10):c.270T>A (p.Cys90Ter)
NM_000504.4(F10):c.28C>T (p.Leu10Phe) rs2142244681
NM_000504.4(F10):c.299_300del (p.Lys100fs)
NM_000504.4(F10):c.305_306del (p.Lys102fs)
NM_000504.4(F10):c.307G>C (p.Asp103His)
NM_000504.4(F10):c.513del (p.Cys172fs) rs2138548669
NM_000504.4(F10):c.584C>G (p.Pro195Arg) rs886050002
NM_000504.4(F10):c.61G>A (p.Gly21Arg) rs753790195
NM_000504.4(F10):c.633C>G (p.Thr211=) rs140852978
NM_000504.4(F10):c.702G>C (p.Arg234Ser) rs1595096266
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.815T>C (p.Leu272Pro)
NM_000504.4(F10):c.829T>A (p.Cys277Ser) rs2138554252
NM_000504.4(F10):c.837C>A (p.Tyr279Ter) rs1250509122
NM_000504.4(F10):c.84G>T (p.Arg28Ser) rs1212018525
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000504.4(F10):c.89A>G (p.Gln30Arg) rs2142252077
NM_000504.4(F10):c.916G>A (p.Glu306Lys) rs1366354349
NM_000504.4(F10):c.964G>A (p.Asp322Asn) rs121964942
NM_000505.4(F12):c.-25G>A rs886060472
NM_000505.4(F12):c.1018+11G>T rs570973405
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1079G>T (p.Gly360Val)
NM_000505.4(F12):c.1142G>A (p.Arg381His) rs1763214147
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000505.4(F12):c.1251-9C>A rs17876032
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_000505.4(F12):c.1462C>T (p.Pro488Ser)
NM_000505.4(F12):c.1517del (p.Gly506fs)
NM_000505.4(F12):c.1561G>A (p.Glu521Lys)
NM_000505.4(F12):c.1570del (p.Val524fs)
NM_000505.4(F12):c.169C>G (p.Leu57Val)
NM_000505.4(F12):c.286+6A>G rs1763273226
NM_000505.4(F12):c.303_304del (p.His101fs)
NM_000505.4(F12):c.359T>A (p.Leu120His)
NM_000505.4(F12):c.415C>T (p.Gln139Ter)
NM_000505.4(F12):c.586C>T (p.Arg196Cys)
NM_000505.4(F12):c.957G>C (p.Gln319His) rs1763225226
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_000506.3(F2):c.1027G>A (p.Glu343Lys) rs121918483
NM_000506.3(F2):c.1139T>C (p.Met380Thr) rs121918481
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) rs121918486
NM_000506.3(F2):c.1802G>T (p.Gly601Val) rs121918480
NM_000506.3(F2):c.940C>T (p.Arg314Cys) rs121918477
NM_000506.4(F2):c.*100C>A rs112016113
NM_000506.5(F2):c.1003+15A>G
NM_000506.5(F2):c.1003+18C>T
NM_000506.5(F2):c.1003+19G>A
NM_000506.5(F2):c.1003+19G>C
NM_000506.5(F2):c.1003+19G>T
NM_000506.5(F2):c.1004-12C>T
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
NM_000506.5(F2):c.1026C>T (p.Phe342=)
NM_000506.5(F2):c.1029G>A (p.Glu343=)
NM_000506.5(F2):c.1038G>A (p.Ser346=)
NM_000506.5(F2):c.1038G>T (p.Ser346=)
NM_000506.5(F2):c.1053C>T (p.Thr351=)
NM_000506.5(F2):c.105G>A (p.Arg35=)
NM_000506.5(F2):c.1070A>G (p.Glu357Gly) rs2134533215
NM_000506.5(F2):c.1080C>T (p.Ile360=)
NM_000506.5(F2):c.1088G>A (p.Arg363His)
NM_000506.5(F2):c.108G>A (p.Ser36=)
NM_000506.5(F2):c.1093G>T (p.Val365Leu)
NM_000506.5(F2):c.1094T>A (p.Val365Glu) rs747234596
NM_000506.5(F2):c.1104G>A (p.Ser368=)
NM_000506.5(F2):c.1116C>T (p.Ile372=)
NM_000506.5(F2):c.1130+11G>A
NM_000506.5(F2):c.1130+16C>T
NM_000506.5(F2):c.1130+19C>A
NM_000506.5(F2):c.1130+19C>T
NM_000506.5(F2):c.1130+20G>A
NM_000506.5(F2):c.1130+8C>T
NM_000506.5(F2):c.1130+9T>C
NM_000506.5(F2):c.1131-16C>T
NM_000506.5(F2):c.1131-18_1131-15del
NM_000506.5(F2):c.1131-5C>T rs1255363601
NM_000506.5(F2):c.1131-9C>T
NM_000506.5(F2):c.1137G>A (p.Val379=)
NM_000506.5(F2):c.1140G>A (p.Met380Ile)
NM_000506.5(F2):c.1156C>A (p.Pro386Thr)
NM_000506.5(F2):c.1158C>G (p.Pro386=)
NM_000506.5(F2):c.1159C>T (p.Gln387Ter) rs2064886777
NM_000506.5(F2):c.1164G>A (p.Glu388=)
NM_000506.5(F2):c.1167G>T (p.Leu389=)
NM_000506.5(F2):c.118C>T (p.Arg40Trp)
NM_000506.5(F2):c.1203C>A (p.Val401=)
NM_000506.5(F2):c.1209C>A (p.Thr403=)
NM_000506.5(F2):c.1209C>T (p.Thr403=)
NM_000506.5(F2):c.1224C>T (p.Leu408=)
NM_000506.5(F2):c.1225C>T (p.Leu409=)
NM_000506.5(F2):c.1227G>T (p.Leu409=)
NM_000506.5(F2):c.124C>T (p.Arg42Trp)
NM_000506.5(F2):c.1251C>T (p.Phe417=)
NM_000506.5(F2):c.1254C>T (p.Thr418=)
NM_000506.5(F2):c.126G>A (p.Arg42=)
NM_000506.5(F2):c.1270G>A (p.Val424Met) rs1310397756
NM_000506.5(F2):c.1274G>A (p.Arg425His) rs121918485
NM_000506.5(F2):c.1277T>C (p.Ile426Thr)
NM_000506.5(F2):c.1284G>A (p.Lys428=)
NM_000506.5(F2):c.1287C>T (p.His429=)
NM_000506.5(F2):c.1298+14G>A
NM_000506.5(F2):c.1298+18C>T
NM_000506.5(F2):c.1298+3A>G
NM_000506.5(F2):c.1299-15T>C
NM_000506.5(F2):c.1299-17T>C
NM_000506.5(F2):c.1299-17T>G
NM_000506.5(F2):c.1299-17_1299-14del
NM_000506.5(F2):c.1299-6C>T
NM_000506.5(F2):c.1302C>T (p.Tyr434=)
NM_000506.5(F2):c.1319A>C (p.Lys440Thr)
NM_000506.5(F2):c.1347C>A (p.Ile449=)
NM_000506.5(F2):c.1351C>A (p.Pro451Thr)
NM_000506.5(F2):c.135C>T (p.Asn45=)
NM_000506.5(F2):c.1362C>T (p.Asn454=)
NM_000506.5(F2):c.1367G>A (p.Arg456Gln)
NM_000506.5(F2):c.1374C>T (p.Asn458=)
NM_000506.5(F2):c.137C>G (p.Thr46Ser)
NM_000506.5(F2):c.1389T>C (p.Ile463=)
NM_000506.5(F2):c.1392C>T (p.Ala464=)
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
NM_000506.5(F2):c.1411C>A (p.Pro471Thr)
NM_000506.5(F2):c.1411C>G (p.Pro471Ala)
NM_000506.5(F2):c.1413T>C (p.Pro471=)
NM_000506.5(F2):c.1434T>C (p.Ile478=)
NM_000506.5(F2):c.1437C>T (p.His479=)
NM_000506.5(F2):c.1446T>C (p.Cys482=)
NM_000506.5(F2):c.1449G>A (p.Leu483=)
NM_000506.5(F2):c.1455C>T (p.Asp485=)
NM_000506.5(F2):c.1472+18T>C
NM_000506.5(F2):c.1472+9C>T rs886048336
NM_000506.5(F2):c.1473-20C>T
NM_000506.5(F2):c.1473-8C>T
NM_000506.5(F2):c.1476G>A (p.Leu492=)
NM_000506.5(F2):c.1496G>A (p.Gly499Glu) rs2134537035
NM_000506.5(F2):c.1499G>A (p.Arg500Gln) rs202003146
NM_000506.5(F2):c.1530G>A (p.Thr510=)
NM_000506.5(F2):c.153G>A (p.Val51=)
NM_000506.5(F2):c.1542C>A (p.Asn514Lys)
NM_000506.5(F2):c.1567C>T (p.Leu523=) rs886048337
NM_000506.5(F2):c.1581C>T (p.Asn527=)
NM_000506.5(F2):c.1597C>A (p.Arg533=)
NM_000506.5(F2):c.1598G>A (p.Arg533Gln) rs1361766713
NM_000506.5(F2):c.1598G>C (p.Arg533Pro)
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.1627C>T (p.Arg543Cys)
NM_000506.5(F2):c.1635T>G (p.Thr545=)
NM_000506.5(F2):c.1654+17C>G
NM_000506.5(F2):c.1654+17C>T
NM_000506.5(F2):c.1654+18G>A
NM_000506.5(F2):c.1655-13G>A
NM_000506.5(F2):c.1655-17G>A
NM_000506.5(F2):c.1655-18C>T
NM_000506.5(F2):c.1662G>A (p.Lys554=)
NM_000506.5(F2):c.1668T>C (p.Asp556=)
NM_000506.5(F2):c.166C>T (p.Leu56=)
NM_000506.5(F2):c.1678C>A (p.Arg560=)
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
NM_000506.5(F2):c.1704T>C (p.Ser568=)
NM_000506.5(F2):c.1707G>A (p.Gly569=)
NM_000506.5(F2):c.1716T>C (p.Phe572=)
NM_000506.5(F2):c.1719C>T (p.Val573=)
NM_000506.5(F2):c.1725+17C>T
NM_000506.5(F2):c.1725+18C>T
NM_000506.5(F2):c.1725+19C>T
NM_000506.5(F2):c.1725+9C>T
NM_000506.5(F2):c.1726-11TTC[2]
NM_000506.5(F2):c.1726-20A>C
NM_000506.5(F2):c.1741C>T (p.Arg581Cys)
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.174A>G (p.Arg58=)
NM_000506.5(F2):c.1750C>T (p.Gln584Ter) rs1401703940
NM_000506.5(F2):c.1761C>T (p.Ile587=)
NM_000506.5(F2):c.1762G>A (p.Val588Ile)
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
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.1791T>C (p.Asp597=) rs1592422668
NM_000506.5(F2):c.1806C>T (p.Phe602=)
NM_000506.5(F2):c.192G>A (p.Thr64=)
NM_000506.5(F2):c.192G>C (p.Thr64=)
NM_000506.5(F2):c.19T>C (p.Leu7=)
NM_000506.5(F2):c.207G>A (p.Glu69=)
NM_000506.5(F2):c.210C>T (p.Ala70=)
NM_000506.5(F2):c.213C>T (p.Phe71=)
NM_000506.5(F2):c.216G>A (p.Glu72=)
NM_000506.5(F2):c.228C>G (p.Ser76=)
NM_000506.5(F2):c.240+17C>T
NM_000506.5(F2):c.240+18G>A
NM_000506.5(F2):c.240+18G>C
NM_000506.5(F2):c.240+7C>T
NM_000506.5(F2):c.241-17C>T
NM_000506.5(F2):c.241-18C>T
NM_000506.5(F2):c.265+10G>A
NM_000506.5(F2):c.265+3G>T
NM_000506.5(F2):c.265+6dup
NM_000506.5(F2):c.265+8C>T
NM_000506.5(F2):c.265+9C>T
NM_000506.5(F2):c.279G>A (p.Ala93=)
NM_000506.5(F2):c.316+15C>T
NM_000506.5(F2):c.316+16G>A
NM_000506.5(F2):c.316+18G>A
NM_000506.5(F2):c.316+8A>C
NM_000506.5(F2):c.317-12G>C
NM_000506.5(F2):c.317-12G>T
NM_000506.5(F2):c.317-14T>C
NM_000506.5(F2):c.317-15G>A
NM_000506.5(F2):c.317-18G>A
NM_000506.5(F2):c.317-19C>T
NM_000506.5(F2):c.317-1G>A
NM_000506.5(F2):c.317-5C>T
NM_000506.5(F2):c.321C>T (p.Asn107=)
NM_000506.5(F2):c.327T>C (p.Ala109=)
NM_000506.5(F2):c.348C>T (p.Tyr116=)
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
NM_000506.5(F2):c.350G>A (p.Arg117Gln)
NM_000506.5(F2):c.369C>T (p.Thr123=)
NM_000506.5(F2):c.392dup (p.Trp132fs)
NM_000506.5(F2):c.393A>G (p.Leu131=)
NM_000506.5(F2):c.393A>T (p.Leu131=)
NM_000506.5(F2):c.422+14C>T
NM_000506.5(F2):c.422+15G>A
NM_000506.5(F2):c.422+1G>A
NM_000506.5(F2):c.423-11T>G
NM_000506.5(F2):c.423-13T>A
NM_000506.5(F2):c.423-19G>T
NM_000506.5(F2):c.423-4C>G
NM_000506.5(F2):c.423-7G>C rs2070852
NM_000506.5(F2):c.423-7G>T
NM_000506.5(F2):c.450C>T (p.Ala150=)
NM_000506.5(F2):c.45G>A (p.Leu15=) rs886048333
NM_000506.5(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000506.5(F2):c.465T>C (p.Asn155=)
NM_000506.5(F2):c.501C>T (p.Pro167=)
NM_000506.5(F2):c.516A>C (p.Thr172=)
NM_000506.5(F2):c.517G>C (p.Asp173His)
NM_000506.5(F2):c.51C>T (p.Ala17=)
NM_000506.5(F2):c.522C>T (p.Pro174=)
NM_000506.5(F2):c.525C>T (p.Thr175=)
NM_000506.5(F2):c.534G>A (p.Arg178=)
NM_000506.5(F2):c.549C>A (p.Ile183=)
NM_000506.5(F2):c.555C>A (p.Val185=)
NM_000506.5(F2):c.558T>C (p.Cys186=)
NM_000506.5(F2):c.559+12G>T
NM_000506.5(F2):c.559+15G>A
NM_000506.5(F2):c.559+19G>A
NM_000506.5(F2):c.559+20G>T
NM_000506.5(F2):c.560-15C>T
NM_000506.5(F2):c.560-19C>G
NM_000506.5(F2):c.560-6C>T
NM_000506.5(F2):c.560-7C>T
NM_000506.5(F2):c.582G>A (p.Ala194=)
NM_000506.5(F2):c.594C>T (p.Arg198=)
NM_000506.5(F2):c.597C>T (p.Ser199=)
NM_000506.5(F2):c.607A>G (p.Ser203Gly) rs2064868698
NM_000506.5(F2):c.627A>G (p.Pro209=)
NM_000506.5(F2):c.629T>C (p.Leu210Ser)
NM_000506.5(F2):c.648T>C (p.Asp216=)
NM_000506.5(F2):c.648T>G (p.Asp216Glu)
NM_000506.5(F2):c.650G>A (p.Arg217Gln)
NM_000506.5(F2):c.669G>A (p.Gly223=)
NM_000506.5(F2):c.678G>A (p.Ala226=)
NM_000506.5(F2):c.681G>T (p.Val227=)
NM_000506.5(F2):c.696C>T (p.Leu232=)
NM_000506.5(F2):c.69C>T (p.His23=)
NM_000506.5(F2):c.6G>A (p.Ala2=)
NM_000506.5(F2):c.708C>T (p.Ala236=)
NM_000506.5(F2):c.717C>T (p.Ser239=)
NM_000506.5(F2):c.762T>C (p.Ala254=)
NM_000506.5(F2):c.772G>C (p.Val258Leu)
NM_000506.5(F2):c.789C>T (p.Arg263=)
NM_000506.5(F2):c.79+10T>C
NM_000506.5(F2):c.79+15G>A
NM_000506.5(F2):c.79+15G>T
NM_000506.5(F2):c.79+17A>G
NM_000506.5(F2):c.792C>T (p.Asn264=)
NM_000506.5(F2):c.799G>T (p.Gly267Trp)
NM_000506.5(F2):c.80-10C>T
NM_000506.5(F2):c.80-12A>C
NM_000506.5(F2):c.80-12A>G
NM_000506.5(F2):c.80-12dup
NM_000506.5(F2):c.80-13C>G
NM_000506.5(F2):c.80-13C>T
NM_000506.5(F2):c.80-13del
NM_000506.5(F2):c.80-13dup
NM_000506.5(F2):c.80-14C>G
NM_000506.5(F2):c.80-14C>T
NM_000506.5(F2):c.80-17C>G
NM_000506.5(F2):c.80-18C>A
NM_000506.5(F2):c.80-18C>G
NM_000506.5(F2):c.80-18C>T
NM_000506.5(F2):c.80-9G>A
NM_000506.5(F2):c.801G>T (p.Gly267=)
NM_000506.5(F2):c.813C>G (p.Gly271=)
NM_000506.5(F2):c.831C>T (p.Ala277=)
NM_000506.5(F2):c.843C>A (p.Gly281=)
NM_000506.5(F2):c.846C>T (p.Asp282=)
NM_000506.5(F2):c.870T>C (p.Tyr290=)
NM_000506.5(F2):c.874+11dup
NM_000506.5(F2):c.874+16A>G
NM_000506.5(F2):c.874+20_874+35dup
NM_000506.5(F2):c.875-19G>A
NM_000506.5(F2):c.875-20C>T
NM_000506.5(F2):c.875-7C>T
NM_000506.5(F2):c.879G>A (p.Glu293=)
NM_000506.5(F2):c.923_926del (p.Asp308fs)
NM_000506.5(F2):c.933C>T (p.Ile311=)
NM_000506.5(F2):c.934G>A (p.Glu312Lys)
NM_000506.5(F2):c.936A>G (p.Glu312=)
NM_000506.5(F2):c.945C>T (p.Thr315=)
NM_000506.5(F2):c.948C>A (p.Ala316=)
NM_000506.5(F2):c.948C>T (p.Ala316=)
NM_000506.5(F2):c.954T>G (p.Ser318Arg) rs2134532792
NM_000506.5(F2):c.954dup (p.Glu319Ter)
NM_000506.5(F2):c.977C>G (p.Pro326Arg)
NM_000506.5(F2):c.984C>T (p.Thr328=)
NM_000506.5(F2):c.993G>A (p.Ser331=)
NM_000506.5(F2):c.995G>C (p.Gly332Ala) rs2134532862
NM_000506.5(F2):c.999G>A (p.Glu333=)
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000508.5(FGA):c.2021T>C (p.Leu674Ser) rs2110806407
NM_000508.5(FGA):c.2024T>C (p.Ile675Thr) rs2110806390
NM_000508.5(FGA):c.2024T>G (p.Ile675Ser) rs2110806390
NM_000508.5(FGA):c.2128G>A (p.Gly710Ser) rs2110806103
NM_000508.5(FGA):c.2155del (p.Gln719fs) rs2110806028
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832
NM_000508.5(FGA):c.2372A>T (p.Asp791Val) rs1479874554
NM_000509.5(FGG):c.-53A>G rs886059156
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_000552.5(VWF):c.-107C>G rs886049747
NM_000552.5(VWF):c.-131G>C rs886049748
NM_000552.5(VWF):c.-72C>T rs886049746
NM_000552.5(VWF):c.1-10T>A
NM_000552.5(VWF):c.1051del (p.Val351fs) rs2136470584
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.5(VWF):c.1092_1093del (p.Asp366fs) rs2136470486
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1116C>A (p.Cys372Ter) rs1250492485
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter) rs62643625
NM_000552.5(VWF):c.1130G>A (p.Trp377Ter) rs1321160729
NM_000552.5(VWF):c.1142A>G (p.Asn381Ser) rs886049745
NM_000552.5(VWF):c.1156+1G>A
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.1219A>C (p.Ser407Arg) rs2136463035
NM_000552.5(VWF):c.1293+2T>C rs1591895879
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del) rs267607305
NM_000552.5(VWF):c.1311C>A (p.Asp437Glu)
NM_000552.5(VWF):c.1318del (p.Cys440fs) rs2136462110
NM_000552.5(VWF):c.1320C>A (p.Cys440Ter) rs1381910966
NM_000552.5(VWF):c.1339C>T (p.Arg447Trp)
NM_000552.5(VWF):c.1339del (p.Arg447fs) rs1591895308
NM_000552.5(VWF):c.1433G>A (p.Gly478Asp)
NM_000552.5(VWF):c.148A>G (p.Met50Val) rs2136535487
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)
NM_000552.5(VWF):c.1533+1G>A rs1555198839
NM_000552.5(VWF):c.1534-13_1551delinsCA rs2136456013
NM_000552.5(VWF):c.1543_1544insGGACAGCT (p.Val515fs) rs2136456030
NM_000552.5(VWF):c.1562_1563delinsCT (p.Cys521Ser) rs1555198442
NM_000552.5(VWF):c.1574G>A (p.Gly525Glu) rs2136455968
NM_000552.5(VWF):c.1581del (p.Asn526_Tyr527insTer) rs2136455960
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1594G>C (p.Gly532Arg)
NM_000552.5(VWF):c.1600G>A (p.Asp534Asn) rs1651544859
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.5(VWF):c.1659G>A (p.Trp553Ter) rs2136455808
NM_000552.5(VWF):c.1693C>T (p.Gln565Ter) rs750364485
NM_000552.5(VWF):c.1708T>C (p.Cys570Arg) rs2136455744
NM_000552.5(VWF):c.1729+3A>C rs2136455692
NM_000552.5(VWF):c.1730-18_1730-12del rs756282321
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1752C>T (p.Cys584=) rs748584672
NM_000552.5(VWF):c.182T>C (p.Leu61Pro) rs1306914162
NM_000552.5(VWF):c.1839C>G (p.Cys613Trp)
NM_000552.5(VWF):c.1841C>T (p.Ser614Phe) rs776987924
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.1862G>C (p.Cys621Ser) rs886049744
NM_000552.5(VWF):c.1886A>C (p.Tyr629Ser)
NM_000552.5(VWF):c.1916G>A (p.Arg639His) rs2136454101
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter) rs61748460
NM_000552.5(VWF):c.1931_1945+5del rs2136454053
NM_000552.5(VWF):c.1945+1G>T rs2136454057
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe) rs1438247325
NM_000552.5(VWF):c.1974C>G (p.Tyr658Ter) rs761288966
NM_000552.5(VWF):c.1984G>A (p.Gly662Arg)
NM_000552.5(VWF):c.1992del (p.Cys665fs) rs1944531613
NM_000552.5(VWF):c.2018_2019del (p.Ser673fs) rs61748462
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr) rs1591886521
NM_000552.5(VWF):c.2071_2072delinsG (p.Pro691fs) rs2136449605
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter) rs61748463
NM_000552.5(VWF):c.2124_2125del (p.Cys709fs) rs61748464
NM_000552.5(VWF):c.212C>A (p.Ser71Ter) rs62643619
NM_000552.5(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.5(VWF):c.2174A>G (p.His725Arg) rs2136449433
NM_000552.5(VWF):c.2182A>G (p.Met728Val) rs1944527524
NM_000552.5(VWF):c.2186+2T>C rs2136449402
NM_000552.5(VWF):c.220G>A (p.Gly74Arg) rs2136535320
NM_000552.5(VWF):c.221-10_532+52del rs1591924188
NM_000552.5(VWF):c.221-2A>C rs1195620730
NM_000552.5(VWF):c.221-6_532+30del rs1591924208
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.2282-2A>G rs2136440498
NM_000552.5(VWF):c.2282-42C>A rs216293
NM_000552.5(VWF):c.2291G>A (p.Ser764Asn)
NM_000552.5(VWF):c.2299T>C (p.Cys767Arg) rs1591880825
NM_000552.5(VWF):c.229C>T (p.Gln77Ter) rs2136522827
NM_000552.5(VWF):c.22G>A (p.Gly8Arg)
NM_000552.5(VWF):c.2308C>T (p.Pro770Ser)
NM_000552.5(VWF):c.2310del (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2310dup (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp) rs2136440319
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter) rs2136440316
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2393_2396dup (p.Cys799Ter) rs2136440291
NM_000552.5(VWF):c.2397_2400dup (p.Ser801fs) rs2136440279
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.2430C>A (p.Cys810Ter) rs746648486
NM_000552.5(VWF):c.2430_2431delinsA (p.Cys810_Pro811delinsTer) rs2136440246
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2438dup (p.Met814fs)
NM_000552.5(VWF):c.2442+1G>A rs1944422617
NM_000552.5(VWF):c.2442+5G>A
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2546+3G>C rs1565838728
NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr) rs772796741
NM_000552.5(VWF):c.2546G>T (p.Cys849Phe)
NM_000552.5(VWF):c.2547-13T>A rs2136430770
NM_000552.5(VWF):c.2547-1G>C rs2136430750
NM_000552.5(VWF):c.2618C>T (p.Ala873Val)
NM_000552.5(VWF):c.2637C>A (p.Asp879Glu)
NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs) rs1591874316
NM_000552.5(VWF):c.2678T>G (p.Leu893Arg) rs2136430556
NM_000552.5(VWF):c.2684A>G (p.Gln895Arg) rs2136430552
NM_000552.5(VWF):c.2686-7T>G rs1591871882
NM_000552.5(VWF):c.270A>C (p.Glu90Asp)
NM_000552.5(VWF):c.2753C>G (p.Ser918Ter) rs2136426808
NM_000552.5(VWF):c.276del (p.Phe92fs) rs61753988
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.2902A>T (p.Lys968Ter) rs1944232310
NM_000552.5(VWF):c.2921G>A (p.Trp974Ter) rs1591870340
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.2965dup (p.Gln989fs) rs2136424529
NM_000552.5(VWF):c.2968-14A>G rs1201852829
NM_000552.5(VWF):c.2968-1G>A
NM_000552.5(VWF):c.2981G>A (p.Gly994Asp) rs1591867991
NM_000552.5(VWF):c.2981G>T (p.Gly994Val) rs1591867991
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3108+2T>G rs2136420816
NM_000552.5(VWF):c.3108+5G>C rs61748495
NM_000552.5(VWF):c.310C>T (p.Gln104Ter) rs2136522699
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
NM_000552.5(VWF):c.3162G>C (p.Thr1054=) rs754421736
NM_000552.5(VWF):c.3163A>G (p.Met1055Val)
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr) rs267607314
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3222+2dup rs2136420405
NM_000552.5(VWF):c.322A>T (p.Arg108Ter) rs2136522667
NM_000552.5(VWF):c.323+1G>T rs2136522662
NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys) rs267607316
NM_000552.5(VWF):c.3247G>A (p.Val1083Ile)
NM_000552.5(VWF):c.3285_3307delinsTCC (p.Asp1096fs) rs2136418437
NM_000552.5(VWF):c.3286G>C (p.Asp1096His) rs748673885
NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs) rs2136418339
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter) rs2136418333
NM_000552.5(VWF):c.3376T>C (p.Cys1126Arg)
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr) rs1591866134
NM_000552.5(VWF):c.3379+2T>C rs2136418281
NM_000552.5(VWF):c.3380-2A>G rs2136417619
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) rs267607324
NM_000552.5(VWF):c.3406_3407del (p.Arg1136fs) rs2136417560
NM_000552.5(VWF):c.3425G>T (p.Cys1142Phe) rs2136417522
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3515G>T (p.Gly1172Val) rs1555195293
NM_000552.5(VWF):c.3517T>C (p.Cys1173Arg)
NM_000552.5(VWF):c.3530G>A (p.Cys1177Tyr)
NM_000552.5(VWF):c.3538+1G>C
NM_000552.5(VWF):c.3538+6G>T rs886049742
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3675-1G>A rs746457842
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.5(VWF):c.3688G>A (p.Val1230Ile) rs2136414039
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3738_3760del (p.Pro1247fs)
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
NM_000552.5(VWF):c.3762del (p.Thr1255fs) rs2136413887
NM_000552.5(VWF):c.3771_3772del (p.Tyr1258fs) rs2136413869
NM_000552.5(VWF):c.3788C>T (p.Ser1263Leu)
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs) rs2136413792
NM_000552.5(VWF):c.3806A>T (p.Asp1269Val) rs2136413788
NM_000552.5(VWF):c.3807T>A (p.Asp1269Glu) rs2136413783
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu) rs61749375
NM_000552.5(VWF):c.3833T>C (p.Leu1278Pro) rs2136413762
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs) rs61749377
NM_000552.5(VWF):c.3839_3849del (p.Phe1280fs) rs2136413727
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.3842T>G (p.Leu1281Arg) rs1591863438
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.3847G>C (p.Asp1283His) rs1219290844
NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro) rs61749379
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu) rs267607335
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu) rs61749385
NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro) rs61749386
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu) rs61749388
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn) rs2136413547
NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro) rs2136413535
NM_000552.5(VWF):c.3929C>T (p.Ser1310Phe) rs61749390
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.5(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.5(VWF):c.3940del (p.Val1314fs) rs2136413513
NM_000552.5(VWF):c.3941T>A (p.Val1314Asp) rs61749394
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu) rs61749396
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3946G>T (p.Val1316Leu)
NM_000552.5(VWF):c.3955del (p.Val1319fs)
NM_000552.5(VWF):c.3961T>A (p.Tyr1321Asn)
NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys) rs1591863294
NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala) rs61749399
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) rs61749403
NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter) rs61749405
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu) rs61750069
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.414_426del (p.Arg139fs) rs1312486904
NM_000552.5(VWF):c.4163A>G (p.Gln1388Arg) rs1944101095
NM_000552.5(VWF):c.4205A>C (p.Gln1402Pro)
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4225G>T (p.Val1409Phe)
NM_000552.5(VWF):c.4241T>G (p.Val1414Gly) rs1565831973
NM_000552.5(VWF):c.4244G>A (p.Gly1415Asp) rs61750080
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp) rs2136412846
NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys) rs61750082
NM_000552.5(VWF):c.4265T>G (p.Leu1422Arg) rs2136412830
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.4276C>A (p.Arg1426Ser) rs555366738
NM_000552.5(VWF):c.4277G>C (p.Arg1426Pro) rs761308466
NM_000552.5(VWF):c.4309del (p.Ala1437fs) rs2136412749
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)
NM_000552.5(VWF):c.435C>G (p.Asn145Lys) rs1591924311
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817
NM_000552.5(VWF):c.4414G>A (p.Asp1472Asn) rs1800383
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4414del (p.Asp1472fs) rs2136412581
NM_000552.5(VWF):c.4470del (p.Lys1491fs) rs2136412494
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.5(VWF):c.4549A>C (p.Ser1517Arg) rs2136412356
NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg) rs2136412350
NM_000552.5(VWF):c.4570del (p.Glu1523_Val1524insTer) rs61750103
NM_000552.5(VWF):c.4586_4591del (p.Asp1529_Val1530del)
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del) rs2136412203
NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg) rs1591862393
NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys) rs2136412168
NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter) rs267607343
NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe) rs267607344
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4637T>A (p.Val1546Glu) rs1591862366
NM_000552.5(VWF):c.4637T>G (p.Val1546Gly) rs1591862366
NM_000552.5(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer) rs1591862342
NM_000552.5(VWF):c.4652C>T (p.Pro1551Leu)
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg) rs61750110
NM_000552.5(VWF):c.4678_4680dup (p.Asp1560_Ile1561insAsp)
NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)
NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter) rs2136412017
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) rs267607349
NM_000552.5(VWF):c.4727C>A (p.Thr1576Asn) rs1591862230
NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn) rs2136411988
NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter) rs1475440343
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4792G>T (p.Glu1598Ter) rs753701755
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
NM_000552.5(VWF):c.4834G>C (p.Ala1612Pro) rs1591862118
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del) rs2136411706
NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn) rs61750584
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg) rs61750585
NM_000552.5(VWF):c.4891G>A (p.Gly1631Ser)
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.4922G>A (p.Arg1641Lys) rs1944088119
NM_000552.5(VWF):c.4927G>A (p.Gly1643Ser) rs886042266
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) rs1591862022
NM_000552.5(VWF):c.4957del (p.Asp1653fs) rs2136411547
NM_000552.5(VWF):c.4960T>A (p.Phe1654Ile) rs2136411544
NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro) rs61750593
NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter) rs2136411489
NM_000552.5(VWF):c.498C>A (p.Asn166Lys) rs2136521923
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu) rs61750596
NM_000552.5(VWF):c.5029A>G (p.Ile1677Val) rs1242618824
NM_000552.5(VWF):c.5051C>G (p.Pro1684Arg)
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del) rs2136409523
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg) rs2136409514
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe) rs2136409487
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5140G>C (p.Ala1714Pro)
NM_000552.5(VWF):c.5146G>A (p.Ala1716Thr) rs1194776238
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.5170+14G>C rs1262362572
NM_000552.5(VWF):c.5170+1G>A rs764543553
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.5171-9del rs199893035
NM_000552.5(VWF):c.5198T>C (p.Leu1733Pro)
NM_000552.5(VWF):c.5201A>T (p.Gln1734Leu)
NM_000552.5(VWF):c.5207del (p.Gly1736fs)
NM_000552.5(VWF):c.5222T>C (p.Ile1741Thr)
NM_000552.5(VWF):c.5223T>G (p.Ile1741Met)
NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter) rs267607352
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.5281dup (p.Met1761fs)
NM_000552.5(VWF):c.5314delG
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.5(VWF):c.533-2A>G rs267607301
NM_000552.5(VWF):c.533-3C>G rs2136500500
NM_000552.5(VWF):c.533-48_657+52del rs1591914708
NM_000552.5(VWF):c.5333T>A (p.Val1778Glu)
NM_000552.5(VWF):c.5336G>T (p.Arg1779Leu)
NM_000552.5(VWF):c.5338T>A (p.Tyr1780Asn) rs372002214
NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) rs267607355
NM_000552.5(VWF):c.5429C>A (p.Ala1810Glu) rs2136408307
NM_000552.5(VWF):c.5455+2T>C rs2136408262
NM_000552.5(VWF):c.5458del (p.Arg1819_Val1820insTer) rs2136405765
NM_000552.5(VWF):c.5459T>A (p.Val1820Glu) rs2136405756
NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg) rs61750610
NM_000552.5(VWF):c.5520dup (p.Gly1841fs) rs1591858979
NM_000552.5(VWF):c.56-14G>T rs1945429534
NM_000552.5(VWF):c.5621-47_5842+51del rs1591857613
NM_000552.5(VWF):c.5621-50_5842+50del rs2136403361
NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu) rs369450995
NM_000552.5(VWF):c.5694G>C (p.Gln1898His) rs1218412177
NM_000552.5(VWF):c.571T>G (p.Trp191Gly) rs2136500414
NM_000552.5(VWF):c.5729C>T (p.Thr1910Ile) rs2136403566
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)
NM_000552.5(VWF):c.5746C>G (p.Arg1916Gly)
NM_000552.5(VWF):c.575C>T (p.Ala192Val) rs2136500405
NM_000552.5(VWF):c.5779T>C (p.Cys1927Arg) rs2136403498
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_000552.5(VWF):c.5849G>A (p.Cys1950Tyr) rs1591849732
NM_000552.5(VWF):c.5866C>T (p.Arg1956Trp) rs751433166
NM_000552.5(VWF):c.5876T>G (p.Val1959Gly) rs886049739
NM_000552.5(VWF):c.592C>T (p.Gln198Ter) rs2136500386
NM_000552.5(VWF):c.5981_5982insT (p.Gly1996fs) rs2136387598
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr) rs761740133
NM_000552.5(VWF):c.6104G>A (p.Gly2035Asp)
NM_000552.5(VWF):c.6123C>A (p.Asn2041Lys) rs1943786371
NM_000552.5(VWF):c.6136A>G (p.Ile2046Val) rs2136386032
NM_000552.5(VWF):c.6182del (p.Phe2061fs) rs61750614
NM_000552.5(VWF):c.6188C>T (p.Pro2063Leu)
NM_000552.5(VWF):c.6188del (p.Pro2063fs) rs774210583
NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)
NM_000552.5(VWF):c.6227del (p.Thr2076fs) rs2136385937
NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter) rs2136385927
NM_000552.5(VWF):c.6256+2dup rs1565822983
NM_000552.5(VWF):c.6314C>T (p.Thr2105Ile) rs761604165
NM_000552.5(VWF):c.6446A>G (p.Glu2149Gly) rs1397931528
NM_000552.5(VWF):c.6449G>C (p.Cys2150Ser) rs2136385448
NM_000552.5(VWF):c.6455A>G (p.Lys2152Arg) rs2136385431
NM_000552.5(VWF):c.646G>T (p.Glu216Ter) rs767837153
NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys) rs779764302
NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr) rs1591848387
NM_000552.5(VWF):c.6520T>G (p.Cys2174Gly) rs61750619
NM_000552.5(VWF):c.652C>T (p.Gln218Ter) rs62643623
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro) rs2136385329
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6538T>C (p.Tyr2180His) rs1591848338
NM_000552.5(VWF):c.6539dup (p.Tyr2180Ter)
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr) rs2136385288
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser) rs2136385288
NM_000552.5(VWF):c.6599-5_6610del
NM_000552.5(VWF):c.6634dup (p.Cys2212fs) rs1268159078
NM_000552.5(VWF):c.666G>A (p.Trp222Ter) rs62643624
NM_000552.5(VWF):c.6677C>T (p.Ser2226Phe) rs181987927
NM_000552.5(VWF):c.6697G>A (p.Glu2233Lys) rs61750623
NM_000552.5(VWF):c.6697G>T (p.Glu2233Ter)
NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr) rs2136382972
NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp) rs1232884671
NM_000552.5(VWF):c.6768G>C (p.Gln2256His)
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.6798+2T>A
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg) rs2136376158
NM_000552.5(VWF):c.6854del (p.Ser2285fs)
NM_000552.5(VWF):c.6871T>C (p.Cys2291Arg)
NM_000552.5(VWF):c.6901+1G>T rs111537486
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.6963del (p.Glu2322fs) rs2136375523
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser) rs1256082707
NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter) rs111597150
NM_000552.5(VWF):c.7082-2A>G rs267607358
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.5(VWF):c.7114C>T (p.Pro2372Ser) rs2136371404
NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)
NM_000552.5(VWF):c.7130dup (p.His2378fs) rs267607359
NM_000552.5(VWF):c.7182T>G (p.Cys2394Trp) rs2136371247
NM_000552.5(VWF):c.7201T>G (p.Ser2401Ala) rs2136371219
NM_000552.5(VWF):c.722T>G (p.Val241Gly) rs2136474453
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs) rs1591841452
NM_000552.5(VWF):c.7287+12T>G
NM_000552.5(VWF):c.7287+1G>C rs1235191685
NM_000552.5(VWF):c.7288-1G>A
NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr) rs1591838833
NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs) rs1591838814
NM_000552.5(VWF):c.7360_7376dup (p.Val2460fs) rs1591838814
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
NM_000552.5(VWF):c.7405T>C (p.Ser2469Pro) rs61751287
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
NM_000552.5(VWF):c.7448A>G (p.Tyr2483Cys) rs2136358654
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter) rs2136358550
NM_000552.5(VWF):c.7519C>G (p.Arg2507Gly) rs368286307
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)
NM_000552.5(VWF):c.7579C>T (p.Pro2527Ser)
NM_000552.5(VWF):c.7580C>A (p.Pro2527His) rs1943442849
NM_000552.5(VWF):c.7599T>G (p.Cys2533Trp) rs61751295
NM_000552.5(VWF):c.7618del (p.Val2540fs) rs2136356178
NM_000552.5(VWF):c.7619T>A (p.Val2540Asp) rs150778949
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter) rs61751297
NM_000552.5(VWF):c.763_766del (p.Cys255fs) rs2136474390
NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7674dup (p.Ser2559fs) rs267607365
NM_000552.5(VWF):c.7712G>A (p.Cys2571Tyr) rs1258347142
NM_000552.5(VWF):c.7729+5G>A
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.7730-1G>C rs267607366
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7730-3C>G
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.7790T>A (p.Ile2597Asn) rs886049737
NM_000552.5(VWF):c.780dup (p.Leu261fs)
NM_000552.5(VWF):c.7863del (p.Thr2622fs) rs1591834850
NM_000552.5(VWF):c.7880del (p.Cys2627fs)
NM_000552.5(VWF):c.7886del (p.Leu2629fs)
NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.5(VWF):c.792del (p.Cys265fs) rs1565853894
NM_000552.5(VWF):c.7947C>T (p.Cys2649=) rs748907832
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.799G>A (p.Ala267Thr)
NM_000552.5(VWF):c.8008G>A (p.Gly2670Ser)
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter) rs1565806829
NM_000552.5(VWF):c.8096A>G (p.His2699Arg) rs886049736
NM_000552.5(VWF):c.8116-2del rs2136338765
NM_000552.5(VWF):c.814G>C (p.Ala272Pro) rs747799959
NM_000552.5(VWF):c.8155+1G>T rs1943194455
NM_000552.5(VWF):c.8155+2_8155+3del rs2136338728
NM_000552.5(VWF):c.8155+3G>A rs61751304
NM_000552.5(VWF):c.8155+3G>C rs61751304
NM_000552.5(VWF):c.8155+6T>C rs1223422347
NM_000552.5(VWF):c.8171G>A (p.Cys2724Tyr) rs2136336917
NM_000552.5(VWF):c.8195A>G (p.Gln2732Arg) rs1443181806
NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg) rs1591827147
NM_000552.5(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.5(VWF):c.823T>C (p.Cys275Arg) rs61753998
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368
NM_000552.5(VWF):c.8275A>G (p.Met2759Val) rs776211115
NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu) rs1591826730
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser) rs61751311
NM_000552.5(VWF):c.8323T>C (p.Ser2775Pro) rs2136336278
NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser) rs371036946
NM_000552.5(VWF):c.8401G>A (p.Ala2801Thr) rs2136336158
NM_000552.5(VWF):c.8430_8433dup (p.Ser2812fs) rs2136336103
NM_000552.5(VWF):c.874+1G>A rs267607302
NM_000552.5(VWF):c.949del (p.Ile317fs) rs2136472072
NM_000552.5(VWF):c.953A>G (p.Asn318Ser)
NM_000552.5(VWF):c.960G>A (p.Met320Ile) rs2136472049
NM_000552.5(VWF):c.976G>A (p.Val326Met)
NM_000553.6(WRN):c.3234-130T>C rs2725364
NM_000602.5(SERPINE1):c.*1006T>C rs201434513
NM_000602.5(SERPINE1):c.*1147G>C rs886061838
NM_000602.5(SERPINE1):c.*1155T>C rs886061839
NM_000602.5(SERPINE1):c.*1192G>C rs886061840
NM_000602.5(SERPINE1):c.*1443C>A rs886061841
NM_000602.5(SERPINE1):c.*1545T>C rs1796703744
NM_000602.5(SERPINE1):c.*1590A>G rs886061842
NM_000602.5(SERPINE1):c.*455C>T rs146323865
NM_000602.5(SERPINE1):c.*456G>A rs1334787082
NM_000602.5(SERPINE1):c.*508C>A rs886061836
NM_000602.5(SERPINE1):c.*685C>T rs1050766
NM_000602.5(SERPINE1):c.*997_*1005dup rs41423845
NM_000602.5(SERPINE1):c.-101G>A rs886061835
NM_000602.5(SERPINE1):c.-93C>T rs556803416
NM_000602.5(SERPINE1):c.149C>G (p.Ser50Cys) rs1412176159
NM_000602.5(SERPINE1):c.356dup (p.Ile120fs) rs1554362148
NM_000602.5(SERPINE1):c.628C>T (p.Arg210Cys)
NM_000602.5(SERPINE1):c.699_700del (p.Tyr233_Thr234insTer)
NM_000602.5(SERPINE1):c.699_700dup (p.Thr234fs) rs1194865614
NM_000602.5(SERPINE1):c.700+10A>G rs1796362492
NM_000602.5(SERPINE1):c.79C>A (p.Pro27Thr) rs1163437425
NM_000602.5(SERPINE1):c.845T>G (p.Ile282Ser) rs750289183
NM_000602.5(SERPINE1):c.934C>T (p.Pro312Ser) rs1796546340
NM_000602.5(SERPINE1):c.995T>C (p.Leu332Pro) rs1796549628
NM_000821.7(GGCX):c.*1019G>C rs545427723
NM_000821.7(GGCX):c.*1037A>G rs184378248
NM_000821.7(GGCX):c.*1145G>A rs1297390996
NM_000821.7(GGCX):c.*1186A>G rs886056372
NM_000821.7(GGCX):c.*1282G>A rs574843893
NM_000821.7(GGCX):c.*1324T>C rs757965941
NM_000821.7(GGCX):c.*1686C>G rs1177037435
NM_000821.7(GGCX):c.*1712A>C rs557850002
NM_000821.7(GGCX):c.*1721G>A rs187452629
NM_000821.7(GGCX):c.*1727A>G rs114386392
NM_000821.7(GGCX):c.*1727A>T rs114386392
NM_000821.7(GGCX):c.*1819A>C rs886056370
NM_000821.7(GGCX):c.*2299C>T rs886056368
NM_000821.7(GGCX):c.*2304T>C rs886056367
NM_000821.7(GGCX):c.*2560A>G rs886056366
NM_000821.7(GGCX):c.*2965C>A rs1340998302
NM_000821.7(GGCX):c.*3000A>G rs190910259
NM_000821.7(GGCX):c.*309A>G rs886056376
NM_000821.7(GGCX):c.*3630A>T rs886056363
NM_000821.7(GGCX):c.*3703C>T rs1691656620
NM_000821.7(GGCX):c.*3757T>C rs886056361
NM_000821.7(GGCX):c.*4047T>C rs189391524
NM_000821.7(GGCX):c.*417G>A rs768419574
NM_000821.7(GGCX):c.*4288G>C rs886056357
NM_000821.7(GGCX):c.*4366C>T rs550873302
NM_000821.7(GGCX):c.*4475T>C rs1691612144
NM_000821.7(GGCX):c.*4848C>T rs867667606
NM_000821.7(GGCX):c.*610C>T rs532781606
NM_000821.7(GGCX):c.*680G>A rs139300235
NM_000821.7(GGCX):c.*91G>T rs1383100743
NM_000821.7(GGCX):c.*973A>G rs1691798044
NM_000821.7(GGCX):c.-23C>T rs537250931
NM_000821.7(GGCX):c.-46C>G rs376371398
NM_000821.7(GGCX):c.1008C>T (p.Ala336=) rs1692059799
NM_000821.7(GGCX):c.1046G>C (p.Arg349Pro) rs146930374
NM_000821.7(GGCX):c.1140dup (p.His381fs) rs1558807827
NM_000821.7(GGCX):c.1217G>A (p.Arg406His) rs139574592
NM_000821.7(GGCX):c.1282C>T (p.Pro428Ser)
NM_000821.7(GGCX):c.137C>T (p.Ser46Phe) rs201510718
NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly)
NM_000821.7(GGCX):c.1453C>T (p.Arg485Cys) rs773659201
NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) rs121909676
NM_000821.7(GGCX):c.1485C>T (p.Pro495=) rs1691972995
NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) rs28928872
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) rs1691898752
NM_000821.7(GGCX):c.198C>T (p.Val66=) rs147427088
NM_000821.7(GGCX):c.1994G>A (p.Arg665Lys) rs1691898500
NM_000821.7(GGCX):c.2119A>C (p.Ile707Leu) rs755087978
NM_000821.7(GGCX):c.2133T>G (p.Pro711=) rs886056379
NM_000821.7(GGCX):c.215-1G>T rs786205096
NM_000821.7(GGCX):c.271A>C (p.Lys91Gln) rs1692323011
NM_000821.7(GGCX):c.68A>G (p.Glu23Gly) rs886056380
NM_000821.7(GGCX):c.726-4G>T rs146123760
NM_000821.7(GGCX):c.745C>T (p.Leu249=) rs1262224787
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) rs1692107154
NM_000821.7(GGCX):c.973dup (p.Arg325fs) rs768019203
NM_000821.7(GGCX):c.994C>A (p.Pro332Thr) rs750270424
NM_000892.5(KLKB1):c.-2+1G>C rs954965096
NM_000892.5(KLKB1):c.1196G>A (p.Trp399Ter) rs1303557405
NM_000892.5(KLKB1):c.1204_1205del (p.Trp402fs) rs768319200
NM_000892.5(KLKB1):c.1205G>A (p.Trp402Ter) rs121964950
NM_000892.5(KLKB1):c.143_221+128del
NM_000892.5(KLKB1):c.1581G>C (p.Glu527Asp)
NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg) rs121964952
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn) rs142420360
NM_000892.5(KLKB1):c.870del (p.Glu290fs)
NM_000892.5(KLKB1):c.940G>T (p.Gly314Ter)
NM_000934.4(SERPINF2):c.1231G>A (p.Val411Met) rs121965062
NM_000934.4(SERPINF2):c.1437dup (p.Met480fs)
NM_000934.4(SERPINF2):c.472G>A (p.Gly158Ser)
NM_000934.4(SERPINF2):c.525AGA[1] (p.Glu176del) rs121965061
NM_001001547.2(CD36):c.120+399TG[12]
NM_001001547.2:c.(?_-183)_(120_?)del
NM_001001547.3(CD36):c.-186T>G rs1455351951
NM_001001547.3(CD36):c.-325G>A rs886062448
NM_001001548.3(CD36):c.*1419+10T>C rs1798034310
NM_001001548.3(CD36):c.-132A>C rs1049654
NM_001001548.3(CD36):c.107del (p.Lys36fs) rs754478799
NM_001001548.3(CD36):c.1112_1119dup (p.Glu374fs) rs1242969201
NM_001001548.3(CD36):c.1124C>T (p.Pro375Leu)
NM_001001548.3(CD36):c.1126-1G>A
NM_001001548.3(CD36):c.1126-5_1127del rs770511058
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001001548.3(CD36):c.1200-12C>T rs765778656
NM_001001548.3(CD36):c.1206_1230dup (p.Val411fs)
NM_001001548.3(CD36):c.1220_1222del (p.Arg407del) rs773274847
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001001548.3(CD36):c.1237A>C (p.Ile413Leu) rs121918035
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.1254+1G>C
NM_001001548.3(CD36):c.1291A>G (p.Arg431Gly) rs140728267
NM_001001548.3(CD36):c.1297_1301del (p.Gln433fs) rs755620205
NM_001001548.3(CD36):c.1313_1316dup (p.Leu440fs)
NM_001001548.3(CD36):c.1345_1348del (p.Leu449fs)
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs) rs771061715
NM_001001548.3(CD36):c.14G>A (p.Arg5Gln) rs13306227
NM_001001548.3(CD36):c.161G>A (p.Trp54Ter)
NM_001001548.3(CD36):c.186C>G (p.Tyr62Ter)
NM_001001548.3(CD36):c.265G>T (p.Gly89Cys) rs374729345
NM_001001548.3(CD36):c.275C>T (p.Thr92Met) rs150037612
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001001548.3(CD36):c.374C>T (p.Ser125Leu) rs886062453
NM_001001548.3(CD36):c.379_381dup (p.Ser127_Val128insSer)
NM_001001548.3(CD36):c.380C>G (p.Ser127Ter) rs201765331
NM_001001548.3(CD36):c.405C>G (p.Phe135Leu) rs747515126
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.511del (p.Gln171fs)
NM_001001548.3(CD36):c.588del (p.Thr197fs)
NM_001001548.3(CD36):c.601T>C (p.Phe201Leu) rs1796699020
NM_001001548.3(CD36):c.610-5T>C rs185913608
NM_001001548.3(CD36):c.638_639del (p.Lys213fs) rs780525946
NM_001001548.3(CD36):c.640G>A (p.Val214Ile) rs190735330
NM_001001548.3(CD36):c.660_664del (p.Asn220fs) rs768699378
NM_001001548.3(CD36):c.660_669del (p.Asn220fs) rs778808650
NM_001001548.3(CD36):c.667_671dup (p.Ala225fs) rs748431584
NM_001001548.3(CD36):c.689A>G (p.Tyr230Cys)
NM_001001548.3(CD36):c.696_698dup (p.Gly232_Lys233insAsn)
NM_001001548.3(CD36):c.701+1del rs775534351
NM_001001548.3(CD36):c.701_701+3dup rs1554343345
NM_001001548.3(CD36):c.729C>A (p.Cys243Ter) rs149985988
NM_001001548.3(CD36):c.760T>C (p.Phe254Leu) rs142186404
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001001548.3(CD36):c.855del (p.Gly287fs)
NM_001001548.3(CD36):c.872A>G (p.Tyr291Cys) rs200752989
NM_001001548.3(CD36):c.907C>G (p.Pro303Ala) rs1797624389
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_001001548.3(CD36):c.971C>G (p.Ser324Ter) rs751804837
NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)
NM_001011551.3(C1GALT1C1):c.553G>A (p.Gly185Arg)
NM_001011551.3(C1GALT1C1):c.59C>A (p.Ala20Asp)
NM_001025356.3(ANO6):c.1219dup (p.Trp407fs)
NM_001025356.3(ANO6):c.1255C>T (p.Arg419Ter)
NM_001025356.3(ANO6):c.1308+2T>C rs2137575812
NM_001025356.3(ANO6):c.1622G>A (p.Arg541Lys)
NM_001025356.3(ANO6):c.1914_1915del (p.Arg638fs) rs750168369
NM_001025356.3(ANO6):c.2660C>T (p.Thr887Met)
NM_001025356.3(ANO6):c.747+1G>A
NM_001025356.3(ANO6):c.826C>T (p.Arg276Ter)
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) rs760698812
NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro) rs200434813
NM_001098671.2(RASGRP2):c.1142C>T (p.Ser381Phe) rs767965347
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) rs774996406
NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs) rs1555122100
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs) rs752492512
NM_001098671.2(RASGRP2):c.337C>T (p.Arg113Ter) rs1592384832
NM_001098671.2(RASGRP2):c.371+5G>T
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001098671.2(RASGRP2):c.706C>T (p.Gln236Ter) rs2135780423
NM_001098671.2(RASGRP2):c.742G>C (p.Gly248Arg) rs587777529
NM_001098671.2(RASGRP2):c.742G>T (p.Gly248Trp) rs587777529
NM_001098671.2(RASGRP2):c.887G>A (p.Cys296Tyr) rs2135765010
NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp) rs1592371840
NM_001102416.3(KNG1):c.1038+1G>A rs377594184
NM_001102416.3(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG rs869320718
NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter) rs752411996
NM_001102416.3(KNG1):c.1216dup (p.His406fs) rs797044430
NM_001102416.3(KNG1):c.1493del (p.Lys498fs) rs797044429
NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs) rs559129841
NM_001102416.3(KNG1):c.306+2T>A
NM_001102416.3(KNG1):c.718C>T (p.Arg240Ter) rs761496908
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001171506.2(MCFD2):c.-184_-183del rs886056120
NM_001171506.2(MCFD2):c.-185_-183del rs886056121
NM_001171506.2(MCFD2):c.-189_-186del rs886056123
NM_001171506.2(MCFD2):c.-189del rs886056124
NM_001171506.2(MCFD2):c.-198_-190del rs372282781
NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)
NM_001261826.3(AP3D1):c.1523G>C (p.Arg508Pro) rs768071199
NM_001261826.3(AP3D1):c.2131G>A (p.Val711Ile)
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
NM_001261826.3(AP3D1):c.2679+1G>C
NM_001261826.3(AP3D1):c.3072G>C (p.Lys1024Asn)
NM_001261826.3(AP3D1):c.3134C>T (p.Ser1045Phe)
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly) rs2018180805
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
NM_001312675.2(F10):c.*138C>T rs121964940
NM_001346754.2(PIGW):c.608T>G (p.Leu203Trp) rs12952744
NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)
NM_001375834.1(WIPF1):c.1007A>G (p.Gln336Arg)
NM_001375834.1(WIPF1):c.1011G>A (p.Arg337=)
NM_001375834.1(WIPF1):c.1017G>A (p.Leu339=)
NM_001375834.1(WIPF1):c.1034C>T (p.Thr345Met) rs1684852145
NM_001375834.1(WIPF1):c.1043T>C (p.Leu348Ser)
NM_001375834.1(WIPF1):c.1050G>A (p.Ser350=)
NM_001375834.1(WIPF1):c.1080G>C (p.Pro360=)
NM_001375834.1(WIPF1):c.1085G>A (p.Ser362Asn) rs779795011
NM_001375834.1(WIPF1):c.1094C>T (p.Pro365Leu) rs1225689201
NM_001375834.1(WIPF1):c.1095C>G (p.Pro365=)
NM_001375834.1(WIPF1):c.1100C>T (p.Pro367Leu) rs1684847875
NM_001375834.1(WIPF1):c.1110G>A (p.Arg370=)
NM_001375834.1(WIPF1):c.1116G>T (p.Pro372=)
NM_001375834.1(WIPF1):c.1122C>A (p.Gly374=) rs1033892508
NM_001375834.1(WIPF1):c.1129+13G>A
NM_001375834.1(WIPF1):c.1129+16G>C
NM_001375834.1(WIPF1):c.1129+7C>G rs1005877347
NM_001375834.1(WIPF1):c.1129+8A>G
NM_001375834.1(WIPF1):c.1129+9A>G rs1002688852
NM_001375834.1(WIPF1):c.1130-10T>C
NM_001375834.1(WIPF1):c.1130-4C>T rs771873177
NM_001375834.1(WIPF1):c.1130-8dup
NM_001375834.1(WIPF1):c.1131C>A (p.Gly377=)
NM_001375834.1(WIPF1):c.1131C>T (p.Gly377=)
NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu) rs770870596
NM_001375834.1(WIPF1):c.1141C>T (p.Pro381Ser)
NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His) rs1684719141
NM_001375834.1(WIPF1):c.116A>T (p.Asp39Val)
NM_001375834.1(WIPF1):c.1181C>T (p.Ala394Val)
NM_001375834.1(WIPF1):c.1196C>G (p.Pro399Arg) rs1684716723
NM_001375834.1(WIPF1):c.1196C>T (p.Pro399Leu)
NM_001375834.1(WIPF1):c.1218A>T (p.Gly406=)
NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=) rs577852991
NM_001375834.1(WIPF1):c.1230C>G (p.Pro410=) rs1334845649
NM_001375834.1(WIPF1):c.1236T>C (p.Ser412=)
NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val) rs371993338
NM_001375834.1(WIPF1):c.1252C>T (p.Leu418Phe)
NM_001375834.1(WIPF1):c.1258C>T (p.Pro420Ser) rs1684713583
NM_001375834.1(WIPF1):c.1263T>C (p.Asp421=)
NM_001375834.1(WIPF1):c.1264A>C (p.Arg422=)
NM_001375834.1(WIPF1):c.1271G>T (p.Ser424Ile)
NM_001375834.1(WIPF1):c.1283C>G (p.Pro428Arg)
NM_001375834.1(WIPF1):c.1299A>G (p.Pro433=) rs2105796945
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter) rs1574785867
NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala) rs2105796927
NM_001375834.1(WIPF1):c.1316A>G (p.Asn439Ser) rs747335347
NM_001375834.1(WIPF1):c.1335A>C (p.Pro445=)
NM_001375834.1(WIPF1):c.1342+18C>A
NM_001375834.1(WIPF1):c.1342+20C>T rs77346261
NM_001375834.1(WIPF1):c.1343-14G>A
NM_001375834.1(WIPF1):c.1343-14G>C
NM_001375834.1(WIPF1):c.1343-20C>T
NM_001375834.1(WIPF1):c.1343-5C>T
NM_001375834.1(WIPF1):c.1361T>A (p.Phe454Tyr)
NM_001375834.1(WIPF1):c.1364A>G (p.Tyr455Cys)
NM_001375834.1(WIPF1):c.13C>T (p.Pro5Ser) rs753073816
NM_001375834.1(WIPF1):c.1426C>A (p.Pro476Thr)
NM_001375834.1(WIPF1):c.1435C>G (p.Leu479Val)
NM_001375834.1(WIPF1):c.1441A>G (p.Arg481Gly) rs1684685114
NM_001375834.1(WIPF1):c.1456+9T>C
NM_001375834.1(WIPF1):c.1457-13T>C rs1265013243
NM_001375834.1(WIPF1):c.1457-14G>A
NM_001375834.1(WIPF1):c.1457G>A (p.Ser486Asn)
NM_001375834.1(WIPF1):c.155A>G (p.Asn52Ser)
NM_001375834.1(WIPF1):c.16C>A (p.Pro6Thr) rs200376655
NM_001375834.1(WIPF1):c.16C>G (p.Pro6Ala)
NM_001375834.1(WIPF1):c.177G>A (p.Leu59=)
NM_001375834.1(WIPF1):c.181+13dup
NM_001375834.1(WIPF1):c.181+18A>G
NM_001375834.1(WIPF1):c.181+7A>T
NM_001375834.1(WIPF1):c.181+9A>G rs1476162237
NM_001375834.1(WIPF1):c.181A>C (p.Lys61Gln) rs1685234520
NM_001375834.1(WIPF1):c.182-10T>C rs1013513013
NM_001375834.1(WIPF1):c.182-14C>T
NM_001375834.1(WIPF1):c.182-20G>A
NM_001375834.1(WIPF1):c.182-8T>C
NM_001375834.1(WIPF1):c.19_20delinsAG (p.Pro7Arg) rs1685388514
NM_001375834.1(WIPF1):c.209G>A (p.Gly70Asp)
NM_001375834.1(WIPF1):c.217_219dup (p.Gly73_Phe74insGly)
NM_001375834.1(WIPF1):c.231C>G (p.Gly77=) rs772302114
NM_001375834.1(WIPF1):c.234C>T (p.Gly78=)
NM_001375834.1(WIPF1):c.235G>C (p.Gly79Arg) rs531744802
NM_001375834.1(WIPF1):c.253G>C (p.Gly85Arg)
NM_001375834.1(WIPF1):c.253G>T (p.Gly85Cys)
NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del) rs561738348
NM_001375834.1(WIPF1):c.265G>T (p.Gly89Cys)
NM_001375834.1(WIPF1):c.267_287dup (p.Gly90_Gly96dup) rs760752697
NM_001375834.1(WIPF1):c.271A>C (p.Ser91Arg)
NM_001375834.1(WIPF1):c.279A>C (p.Gly93=)
NM_001375834.1(WIPF1):c.279A>G (p.Gly93=)
NM_001375834.1(WIPF1):c.27C>G (p.Pro9=)
NM_001375834.1(WIPF1):c.284del (p.Gly95fs)
NM_001375834.1(WIPF1):c.285C>T (p.Gly95=)
NM_001375834.1(WIPF1):c.30G>C (p.Pro10=) rs745425874
NM_001375834.1(WIPF1):c.320G>C (p.Gly107Ala) rs773373271
NM_001375834.1(WIPF1):c.326C>T (p.Pro109Leu)
NM_001375834.1(WIPF1):c.34C>A (p.Pro12Thr)
NM_001375834.1(WIPF1):c.358+19T>C
NM_001375834.1(WIPF1):c.359-19T>C
NM_001375834.1(WIPF1):c.359A>T (p.Asp120Val)
NM_001375834.1(WIPF1):c.366A>T (p.Gly122=)
NM_001375834.1(WIPF1):c.373C>T (p.Arg125Ter)
NM_001375834.1(WIPF1):c.374G>A (p.Arg125Gln)
NM_001375834.1(WIPF1):c.392C>T (p.Pro131Leu) rs1435025827
NM_001375834.1(WIPF1):c.401G>A (p.Arg134Lys) rs1006829187
NM_001375834.1(WIPF1):c.403T>G (p.Ser135Ala)
NM_001375834.1(WIPF1):c.422T>C (p.Phe141Ser)
NM_001375834.1(WIPF1):c.427C>A (p.Pro143Thr)
NM_001375834.1(WIPF1):c.430C>G (p.Pro144Ala) rs144275492
NM_001375834.1(WIPF1):c.432A>C (p.Pro144=)
NM_001375834.1(WIPF1):c.444G>A (p.Gly148=)
NM_001375834.1(WIPF1):c.467G>A (p.Gly156Asp)
NM_001375834.1(WIPF1):c.469C>T (p.His157Tyr) rs1358662433
NM_001375834.1(WIPF1):c.483C>G (p.Pro161=)
NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu) rs560424291
NM_001375834.1(WIPF1):c.51+14C>A
NM_001375834.1(WIPF1):c.51+19_51+22del
NM_001375834.1(WIPF1):c.51+4_51+7del rs1685384616
NM_001375834.1(WIPF1):c.51+7G>T
NM_001375834.1(WIPF1):c.510G>A (p.Pro170=)
NM_001375834.1(WIPF1):c.52-15A>G
NM_001375834.1(WIPF1):c.532T>A (p.Ser178Thr)
NM_001375834.1(WIPF1):c.551C>T (p.Pro184Leu) rs752786667
NM_001375834.1(WIPF1):c.560T>C (p.Val187Ala)
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)
NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala) rs1684887381
NM_001375834.1(WIPF1):c.606G>T (p.Gly202=)
NM_001375834.1(WIPF1):c.613C>A (p.Pro205Thr) rs150415094
NM_001375834.1(WIPF1):c.615A>G (p.Pro205=)
NM_001375834.1(WIPF1):c.618G>A (p.Val206=)
NM_001375834.1(WIPF1):c.61G>A (p.Glu21Lys) rs1685238274
NM_001375834.1(WIPF1):c.621C>G (p.Pro207=)
NM_001375834.1(WIPF1):c.627C>A (p.Gly209=)
NM_001375834.1(WIPF1):c.627C>T (p.Gly209=)
NM_001375834.1(WIPF1):c.657T>G (p.Pro219=)
NM_001375834.1(WIPF1):c.664T>G (p.Phe222Val) rs2105807074
NM_001375834.1(WIPF1):c.668C>G (p.Pro223Arg) rs2105807046
NM_001375834.1(WIPF1):c.66G>A (p.Lys22=)
NM_001375834.1(WIPF1):c.679G>A (p.Gly227Ser)
NM_001375834.1(WIPF1):c.679G>T (p.Gly227Cys) rs778029521
NM_001375834.1(WIPF1):c.707G>C (p.Arg236Pro) rs1412093478
NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter) rs1684878263
NM_001375834.1(WIPF1):c.723C>A (p.Ser241Arg)
NM_001375834.1(WIPF1):c.735C>T (p.Pro245=)
NM_001375834.1(WIPF1):c.75G>A (p.Leu25=)
NM_001375834.1(WIPF1):c.762T>A (p.Pro254=)
NM_001375834.1(WIPF1):c.764C>A (p.Thr255Asn)
NM_001375834.1(WIPF1):c.765C>A (p.Thr255=)
NM_001375834.1(WIPF1):c.771C>T (p.Ser257=)
NM_001375834.1(WIPF1):c.778T>A (p.Leu260Met) rs1684872337
NM_001375834.1(WIPF1):c.810A>G (p.Pro270=)
NM_001375834.1(WIPF1):c.811G>A (p.Val271Met) rs1684870740
NM_001375834.1(WIPF1):c.811G>C (p.Val271Leu) rs1684870740
NM_001375834.1(WIPF1):c.843G>C (p.Ala281=)
NM_001375834.1(WIPF1):c.843G>T (p.Ala281=) rs369696922
NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg) rs369736015
NM_001375834.1(WIPF1):c.849C>T (p.Pro283=)
NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del) rs556678311
NM_001375834.1(WIPF1):c.851CTC[5] (p.Pro287dup) rs556678311
NM_001375834.1(WIPF1):c.870C>G (p.Asn290Lys) rs2105806273
NM_001375834.1(WIPF1):c.893C>G (p.Pro298Arg)
NM_001375834.1(WIPF1):c.894G>A (p.Pro298=)
NM_001375834.1(WIPF1):c.903G>A (p.Ser301=)
NM_001375834.1(WIPF1):c.909C>G (p.Ser303=)
NM_001375834.1(WIPF1):c.91G>T (p.Ala31Ser)
NM_001375834.1(WIPF1):c.926C>T (p.Pro309Leu)
NM_001375834.1(WIPF1):c.936T>A (p.Pro312=)
NM_001375834.1(WIPF1):c.936T>G (p.Pro312=) rs1040586347
NM_001375834.1(WIPF1):c.941G>A (p.Ser314Asn)
NM_001375834.1(WIPF1):c.961C>T (p.Leu321=)
NM_001375834.1(WIPF1):c.971G>A (p.Ser324Asn) rs1397897929
NM_001375834.1(WIPF1):c.975C>G (p.Ser325=) rs751419161
NM_001375834.1(WIPF1):c.978C>T (p.Ser326=)
NM_001375834.1(WIPF1):c.980G>A (p.Gly327Asp)
NM_001375834.1(WIPF1):c.983A>G (p.Asn328Ser)
NM_001375834.1(WIPF1):c.984T>C (p.Asn328=)
NM_001375834.1(WIPF1):c.996A>G (p.Pro332=) rs2105805756
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747
NM_001710.5(CFB):c.-186delG rs796979529
NM_001710.5(CFB):c.-199T>C rs1771399314
NM_001710.6(CFB):c.1037-10C>G rs201659953
NM_001710.6(CFB):c.1037-10C>T rs201659953
NM_001710.6(CFB):c.1524C>A (p.His508Gln) rs138207668
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_001710.6(CFB):c.1803G>A (p.Glu601=) rs377025675
NM_001710.6(CFB):c.1889C>T (p.Ala630Val) rs886061297
NM_001710.6(CFB):c.2023G>A (p.Val675Met)
NM_001710.6(CFB):c.2069C>T (p.Ala690Val) rs1403720810
NM_001710.6(CFB):c.334G>C (p.Gly112Arg) rs950175817
NM_001710.6(CFB):c.656A>T (p.Gln219Leu) rs886061295
NM_001710.6(CFB):c.713T>G (p.Leu238Arg)
NM_001710.6(CFB):c.858C>G (p.Phe286Leu) rs117905900
NM_001710.6(CFB):c.967A>G (p.Lys323Glu) rs121909748
NM_001710.6(CFB):c.978A>G (p.Glu326=)
NM_001710.6(CFB):c.981A>T (p.Ala327=)
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.4(RUNX1):c.356_358delTGG rs1569079249
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.5(RUNX1):c.*1213C>G rs373491098
NM_001754.5(RUNX1):c.*1293A>G rs2056425227
NM_001754.5(RUNX1):c.*1295G>A rs866560376
NM_001754.5(RUNX1):c.*1360C>T rs190173314
NM_001754.5(RUNX1):c.*1455A>G rs886057042
NM_001754.5(RUNX1):c.*1720C>T rs568766039
NM_001754.5(RUNX1):c.*1938C>T rs886057041
NM_001754.5(RUNX1):c.*1967G>A rs1173833929
NM_001754.5(RUNX1):c.*2201T>G rs902401401
NM_001754.5(RUNX1):c.*2201dup rs201214658
NM_001754.5(RUNX1):c.*2467dup rs200050352
NM_001754.5(RUNX1):c.*2517TG[8] rs139307340
NM_001754.5(RUNX1):c.*2533TG[10] rs371955155
NM_001754.5(RUNX1):c.*2594_*2597del rs886057036
NM_001754.5(RUNX1):c.*260C>A rs963200707
NM_001754.5(RUNX1):c.*263C>G rs527589424
NM_001754.5(RUNX1):c.*264C>T rs560356828
NM_001754.5(RUNX1):c.*2678A>G rs886057035
NM_001754.5(RUNX1):c.*267C>A rs1014918053
NM_001754.5(RUNX1):c.*2912A>G rs2056405969
NM_001754.5(RUNX1):c.*3028T>C rs1601327092
NM_001754.5(RUNX1):c.*3281G>T rs2056401435
NM_001754.5(RUNX1):c.*3642C>T rs2056396161
NM_001754.5(RUNX1):c.*4003C>T rs886057030
NM_001754.5(RUNX1):c.*4140C>T rs141693054
NM_001754.5(RUNX1):c.*463C>T rs1601330615
NM_001754.5(RUNX1):c.*467T>C rs2056436218
NM_001754.5(RUNX1):c.*569T>G rs573467458
NM_001754.5(RUNX1):c.*667del rs200576340
NM_001754.5(RUNX1):c.*682dup rs886057044
NM_001754.5(RUNX1):c.*700dup rs11424731
NM_001754.5(RUNX1):c.*730dup rs11424730
NM_001754.5(RUNX1):c.*801A>C rs1352217442
NM_001754.5(RUNX1):c.*821G>A rs968985577
NM_001754.5(RUNX1):c.*83G>A rs2145870845
NM_001754.5(RUNX1):c.*8G>C
NM_001754.5(RUNX1):c.*917del rs780068987
NM_001754.5(RUNX1):c.*940G>A rs566702179
NM_001754.5(RUNX1):c.-19G>A rs1568815605
NM_001754.5(RUNX1):c.-59-76A>G rs56045941
NM_001754.5(RUNX1):c.-5_4del (p.Met1_Ala2del) rs2059419583
NM_001754.5(RUNX1):c.-60+38dup rs79420744
NM_001754.5(RUNX1):c.-60+5G>C
NM_001754.5(RUNX1):c.-62G>A rs550878860
NM_001754.5(RUNX1):c.-67G>A rs886057048
NM_001754.5(RUNX1):c.-9_14dup (p.Ser5fs)
NM_001754.5(RUNX1):c.1000C>T (p.Arg334Cys) rs2056460968
NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.5(RUNX1):c.1004A>G (p.Gln335Arg) rs928106783
NM_001754.5(RUNX1):c.1005G>C (p.Gln335His)
NM_001754.5(RUNX1):c.1006T>A (p.Phe336Ile) rs756010562
NM_001754.5(RUNX1):c.1007T>G (p.Phe336Cys)
NM_001754.5(RUNX1):c.1008C>G (p.Phe336Leu)
NM_001754.5(RUNX1):c.1008C>T (p.Phe336=) rs969459005
NM_001754.5(RUNX1):c.100G>A (p.Ala34Thr)
NM_001754.5(RUNX1):c.1011C>G (p.Pro337=) rs1037289303
NM_001754.5(RUNX1):c.1011C>T (p.Pro337=) rs1037289303
NM_001754.5(RUNX1):c.1012G>A (p.Ala338Thr) rs2056460468
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) rs1273605678
NM_001754.5(RUNX1):c.1014_1033del (p.Leu339fs)
NM_001754.5(RUNX1):c.1015C>G (p.Leu339Val)
NM_001754.5(RUNX1):c.1015C>T (p.Leu339=) rs1418195365
NM_001754.5(RUNX1):c.1016T>C (p.Leu339Pro) rs1197877669
NM_001754.5(RUNX1):c.1016T>G (p.Leu339Arg)
NM_001754.5(RUNX1):c.1017G>T (p.Leu339=)
NM_001754.5(RUNX1):c.1019C>T (p.Pro340Leu) rs2145877800
NM_001754.5(RUNX1):c.101C>A (p.Ala34Asp) rs2058006183
NM_001754.5(RUNX1):c.101C>G (p.Ala34Gly)
NM_001754.5(RUNX1):c.101C>T (p.Ala34Val) rs2058006183
NM_001754.5(RUNX1):c.1020C>G (p.Pro340=) rs1601333675
NM_001754.5(RUNX1):c.1024A>G (p.Ile342Val) rs2056460109
NM_001754.5(RUNX1):c.1025T>C (p.Ile342Thr) rs2145877771
NM_001754.5(RUNX1):c.1026C>G (p.Ile342Met)
NM_001754.5(RUNX1):c.1029C>G (p.Ser343=)
NM_001754.5(RUNX1):c.102C>A (p.Ala34=)
NM_001754.5(RUNX1):c.1031A>T (p.Asp344Val)
NM_001754.5(RUNX1):c.1032C>T (p.Asp344=) rs1601333645
NM_001754.5(RUNX1):c.1034C>A (p.Pro345His) rs774629580
NM_001754.5(RUNX1):c.1035_1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1036C>T (p.Arg346Cys)
NM_001754.5(RUNX1):c.1036del (p.Arg346fs)
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1037G>A (p.Arg346His) rs1282562937
NM_001754.5(RUNX1):c.1037G>C (p.Arg346Pro)
NM_001754.5(RUNX1):c.1040T>G (p.Met347Arg)
NM_001754.5(RUNX1):c.1042C>T (p.His348Tyr) rs2056459478
NM_001754.5(RUNX1):c.1045T>C (p.Tyr349His) rs2145877527
NM_001754.5(RUNX1):c.1046A>G (p.Tyr349Cys)
NM_001754.5(RUNX1):c.1049C>T (p.Pro350Leu) rs2056459331
NM_001754.5(RUNX1):c.104G>A (p.Ser35Asn) rs1569084822
NM_001754.5(RUNX1):c.1051G>A (p.Gly351Ser)
NM_001754.5(RUNX1):c.1053C>A (p.Gly351=) rs1601333548
NM_001754.5(RUNX1):c.1053C>T (p.Gly351=) rs1601333548
NM_001754.5(RUNX1):c.1054G>A (p.Ala352Thr) rs1397164331
NM_001754.5(RUNX1):c.1056C>T (p.Ala352=) rs2145877419
NM_001754.5(RUNX1):c.105C>A (p.Ser35Arg) rs1569084817
NM_001754.5(RUNX1):c.105C>T (p.Ser35=) rs1569084817
NM_001754.5(RUNX1):c.1070C>G (p.Pro357Arg) rs745561479
NM_001754.5(RUNX1):c.1070C>T (p.Pro357Leu) rs745561479
NM_001754.5(RUNX1):c.1071G>A (p.Pro357=)
NM_001754.5(RUNX1):c.1072A>C (p.Thr358Pro)
NM_001754.5(RUNX1):c.1073C>T (p.Thr358Met) rs962671280
NM_001754.5(RUNX1):c.1074G>A (p.Thr358=) rs2145877172
NM_001754.5(RUNX1):c.1075C>T (p.Pro359Ser)
NM_001754.5(RUNX1):c.1076C>G (p.Pro359Arg) rs1601333461
NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu)
NM_001754.5(RUNX1):c.1077G>A (p.Pro359=) rs2056458690
NM_001754.5(RUNX1):c.1077G>C (p.Pro359=) rs2056458690
NM_001754.5(RUNX1):c.1078G>C (p.Val360Leu)
NM_001754.5(RUNX1):c.107C>G (p.Thr36Arg) rs2058005989
NM_001754.5(RUNX1):c.1082C>G (p.Thr361Ser) rs1017287894
NM_001754.5(RUNX1):c.1082C>T (p.Thr361Ile) rs1017287894
NM_001754.5(RUNX1):c.1083C>G (p.Thr361=) rs1177939138
NM_001754.5(RUNX1):c.1083C>T (p.Thr361=) rs1177939138
NM_001754.5(RUNX1):c.1084T>G (p.Ser362Ala) rs2056458462
NM_001754.5(RUNX1):c.1085C>T (p.Ser362Leu)
NM_001754.5(RUNX1):c.1086G>T (p.Ser362=) rs143947839
NM_001754.5(RUNX1):c.1088G>C (p.Gly363Ala)
NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) rs2056458051
NM_001754.5(RUNX1):c.1088_1100del (p.Gly363fs)
NM_001754.5(RUNX1):c.1089C>T (p.Gly363=) rs2056458294
NM_001754.5(RUNX1):c.108G>A (p.Thr36=) rs2146414447
NM_001754.5(RUNX1):c.1090A>T (p.Ile364Phe) rs2056458260
NM_001754.5(RUNX1):c.1092C>G (p.Ile364Met)
NM_001754.5(RUNX1):c.1092C>T (p.Ile364=) rs1321389332
NM_001754.5(RUNX1):c.1092CGGCAT[1] (p.364IG[1]) rs750495319
NM_001754.5(RUNX1):c.1092CGGCAT[3] (p.364IG[3]) rs750495319
NM_001754.5(RUNX1):c.1093G>A (p.Gly365Ser) rs752616540
NM_001754.5(RUNX1):c.1095C>A (p.Gly365=)
NM_001754.5(RUNX1):c.1098C>G (p.Ile366Met)
NM_001754.5(RUNX1):c.1099G>C (p.Gly367Arg)
NM_001754.5(RUNX1):c.1099G>T (p.Gly367Cys) rs2145876825
NM_001754.5(RUNX1):c.1100G>A (p.Gly367Asp)
NM_001754.5(RUNX1):c.1101C>T (p.Gly367=) rs2145876802
NM_001754.5(RUNX1):c.1102A>C (p.Met368Leu) rs1256464750
NM_001754.5(RUNX1):c.1102A>T (p.Met368Leu) rs1256464750
NM_001754.5(RUNX1):c.1104G>A (p.Met368Ile) rs2056457761
NM_001754.5(RUNX1):c.1106C>T (p.Ser369Leu) rs755073984
NM_001754.5(RUNX1):c.1107G>A (p.Ser369=) rs1445295022
NM_001754.5(RUNX1):c.1110del (p.Met371fs)
NM_001754.5(RUNX1):c.1113G>A (p.Met371Ile) rs1348452375
NM_001754.5(RUNX1):c.1114G>A (p.Gly372Ser) rs2145876612
NM_001754.5(RUNX1):c.1114_1125dup (p.Gly372_Thr375dup) rs2056456863
NM_001754.5(RUNX1):c.1116C>T (p.Gly372=)
NM_001754.5(RUNX1):c.1117_1132del (p.Ser373fs)
NM_001754.5(RUNX1):c.1118C>A (p.Ser373Ter)
NM_001754.5(RUNX1):c.1118C>T (p.Ser373Leu)
NM_001754.5(RUNX1):c.1119G>A (p.Ser373=) rs766678402
NM_001754.5(RUNX1):c.1122C>G (p.Ala374=)
NM_001754.5(RUNX1):c.1125G>A (p.Thr375=)
NM_001754.5(RUNX1):c.1127G>A (p.Arg376His)
NM_001754.5(RUNX1):c.1131C>T (p.Tyr377=)
NM_001754.5(RUNX1):c.1135A>G (p.Thr379Ala)
NM_001754.5(RUNX1):c.1137C>T (p.Thr379=) rs2145876319
NM_001754.5(RUNX1):c.1139A>G (p.Tyr380Cys) rs2145876304
NM_001754.5(RUNX1):c.1142T>C (p.Leu381Pro)
NM_001754.5(RUNX1):c.1142_1145dup (p.Pro383fs) rs2145876252
NM_001754.5(RUNX1):c.1143G>A (p.Leu381=)
NM_001754.5(RUNX1):c.1145C>G (p.Pro382Arg) rs2145876238
NM_001754.5(RUNX1):c.1145C>T (p.Pro382Leu)
NM_001754.5(RUNX1):c.1148C>T (p.Pro383Leu)
NM_001754.5(RUNX1):c.1149G>A (p.Pro383=) rs1488046521
NM_001754.5(RUNX1):c.1149G>T (p.Pro383=) rs1488046521
NM_001754.5(RUNX1):c.114C>T (p.Arg38=) rs2058005751
NM_001754.5(RUNX1):c.1150C>A (p.Pro384Thr)
NM_001754.5(RUNX1):c.1150C>T (p.Pro384Ser) rs2056456531
NM_001754.5(RUNX1):c.1151C>T (p.Pro384Leu)
NM_001754.5(RUNX1):c.1154A>G (p.Tyr385Cys) rs2056456351
NM_001754.5(RUNX1):c.1155C>T (p.Tyr385=)
NM_001754.5(RUNX1):c.1157C>G (p.Pro386Arg) rs1569002337
NM_001754.5(RUNX1):c.1158C>T (p.Pro386=) rs1317733811
NM_001754.5(RUNX1):c.1159_1161del (p.Gly387del) rs975536871
NM_001754.5(RUNX1):c.115C>T (p.Arg39Cys) rs1204043122
NM_001754.5(RUNX1):c.1162T>A (p.Ser388Thr)
NM_001754.5(RUNX1):c.1162_1163delinsAA (p.Ser388Lys)
NM_001754.5(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.5(RUNX1):c.1164G>C (p.Ser388=) rs1333436278
NM_001754.5(RUNX1):c.1164del (p.Ser389fs) rs1601333051
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
NM_001754.5(RUNX1):c.1166_1186dup (p.Ser389_Pro395dup) rs1555884869
NM_001754.5(RUNX1):c.1167G>A (p.Ser389=)
NM_001754.5(RUNX1):c.116G>A (p.Arg39His)
NM_001754.5(RUNX1):c.1171G>A (p.Ala391Thr)
NM_001754.5(RUNX1):c.1171G>C (p.Ala391Pro)
NM_001754.5(RUNX1):c.1172C>A (p.Ala391Glu) rs1386664717
NM_001754.5(RUNX1):c.1173G>A (p.Ala391=)
NM_001754.5(RUNX1):c.1173_1174del (p.Gln392fs)
NM_001754.5(RUNX1):c.1176G>A (p.Gln392=) rs1432531187
NM_001754.5(RUNX1):c.117C>T (p.Arg39=) rs2146414229
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser) rs2056455422
NM_001754.5(RUNX1):c.1181G>A (p.Gly394Asp) rs2145875783
NM_001754.5(RUNX1):c.1183C>G (p.Pro395Ala)
NM_001754.5(RUNX1):c.1183C>T (p.Pro395Ser)
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg) rs868527382
NM_001754.5(RUNX1):c.1184_1233del (p.Pro395fs)
NM_001754.5(RUNX1):c.1186T>A (p.Phe396Ile) rs2145875671
NM_001754.5(RUNX1):c.1191A>G (p.Gln397=)
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His) rs1176713877
NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)
NM_001754.5(RUNX1):c.1194C>T (p.Ala398=) rs2145875601
NM_001754.5(RUNX1):c.1196G>A (p.Ser399Asn) rs946348885
NM_001754.5(RUNX1):c.1196G>C (p.Ser399Thr) rs946348885
NM_001754.5(RUNX1):c.1196G>T (p.Ser399Ile) rs946348885
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg) rs1555884864
NM_001754.5(RUNX1):c.1197C>G (p.Ser399Arg)
NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.5(RUNX1):c.1199C>T (p.Ser400Leu) rs2056454601
NM_001754.5(RUNX1):c.1200G>A (p.Ser400=)
NM_001754.5(RUNX1):c.1202C>T (p.Pro401Leu) rs1569002142
NM_001754.5(RUNX1):c.1203C>G (p.Pro401=)
NM_001754.5(RUNX1):c.1203C>T (p.Pro401=)
NM_001754.5(RUNX1):c.1203del (p.Ser402fs)
NM_001754.5(RUNX1):c.1206C>G (p.Ser402=)
NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)
NM_001754.5(RUNX1):c.1209C>T (p.Tyr403=) rs2145875398
NM_001754.5(RUNX1):c.1210del (p.His404fs)
NM_001754.5(RUNX1):c.1214_1217dup (p.Tyr407fs) rs2056453893
NM_001754.5(RUNX1):c.1215G>C (p.Leu405=) rs1488763689
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs) rs2056453972
NM_001754.5(RUNX1):c.1218C>T (p.Tyr406=) rs2056453805
NM_001754.5(RUNX1):c.1219T>A (p.Tyr407Asn) rs1262717333
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.121A>G (p.Thr41Ala)
NM_001754.5(RUNX1):c.1221C>A (p.Tyr407Ter)
NM_001754.5(RUNX1):c.1221C>G (p.Tyr407Ter) rs914897271
NM_001754.5(RUNX1):c.1222G>C (p.Gly408Arg)
NM_001754.5(RUNX1):c.1225G>A (p.Ala409Thr) rs1569002104
NM_001754.5(RUNX1):c.1227C>G (p.Ala409=) rs2145875086
NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.5(RUNX1):c.1230_1235dup (p.Ala411_Gly412dup) rs2056453065
NM_001754.5(RUNX1):c.1231G>A (p.Ala411Thr) rs1256594190
NM_001754.5(RUNX1):c.1232C>T (p.Ala411Val) rs1233174774
NM_001754.5(RUNX1):c.1233_1236dup (p.Ser413fs)
NM_001754.5(RUNX1):c.1234G>A (p.Gly412Ser)
NM_001754.5(RUNX1):c.1234G>C (p.Gly412Arg) rs1601332742
NM_001754.5(RUNX1):c.1237T>G (p.Ser413Ala)
NM_001754.5(RUNX1):c.1238_1240del (p.Ser413del)
NM_001754.5(RUNX1):c.123G>C (p.Thr41=)
NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter) rs2056452818
NM_001754.5(RUNX1):c.1242C>T (p.Tyr414=) rs2056452818
NM_001754.5(RUNX1):c.1243C>G (p.Gln415Glu)
NM_001754.5(RUNX1):c.1244A>C (p.Gln415Pro) rs2056452722
NM_001754.5(RUNX1):c.1247T>C (p.Phe416Ser)
NM_001754.5(RUNX1):c.1250C>G (p.Ser417Cys) rs2145874727
NM_001754.5(RUNX1):c.1250C>T (p.Ser417Phe)
NM_001754.5(RUNX1):c.1252A>C (p.Met418Leu)
NM_001754.5(RUNX1):c.1252A>T (p.Met418Leu)
NM_001754.5(RUNX1):c.1254G>A (p.Met418Ile) rs1357327999
NM_001754.5(RUNX1):c.1254G>C (p.Met418Ile)
NM_001754.5(RUNX1):c.1256T>C (p.Val419Ala) rs2056452215
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly) rs2056452215
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
NM_001754.5(RUNX1):c.1259GCG[3] (p.Gly421_Glu422insGly) rs2145874446
NM_001754.5(RUNX1):c.125C>A (p.Pro42Gln) rs2146414125
NM_001754.5(RUNX1):c.125C>T (p.Pro42Leu)
NM_001754.5(RUNX1):c.1260C>A (p.Gly420=)
NM_001754.5(RUNX1):c.1260C>G (p.Gly420=) rs2145874515
NM_001754.5(RUNX1):c.1260C>T (p.Gly420=) rs2145874515
NM_001754.5(RUNX1):c.1262G>C (p.Gly421Ala)
NM_001754.5(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.5(RUNX1):c.1264G>A (p.Glu422Lys)
NM_001754.5(RUNX1):c.1264G>C (p.Glu422Gln) rs2056451816
NM_001754.5(RUNX1):c.1264G>T (p.Glu422Ter) rs2056451816
NM_001754.5(RUNX1):c.1265A>G (p.Glu422Gly)
NM_001754.5(RUNX1):c.1266G>A (p.Glu422=) rs967317406
NM_001754.5(RUNX1):c.1267C>T (p.Arg423Cys) rs1741971195
NM_001754.5(RUNX1):c.1268G>A (p.Arg423His)
NM_001754.5(RUNX1):c.1269C>G (p.Arg423=) rs544247912
NM_001754.5(RUNX1):c.126G>A (p.Pro42=)
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.1271C>A (p.Ser424Ter)
NM_001754.5(RUNX1):c.1271_1272insTCTC (p.Pro425fs)
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=) rs1459260782
NM_001754.5(RUNX1):c.1274C>G (p.Pro425Arg)
NM_001754.5(RUNX1):c.1274C>T (p.Pro425Leu) rs2056451344
NM_001754.5(RUNX1):c.1275G>C (p.Pro425=)
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs) rs2056451263
NM_001754.5(RUNX1):c.1277dup (p.Arg427fs)
NM_001754.5(RUNX1):c.1278G>A (p.Pro426=) rs1263322321
NM_001754.5(RUNX1):c.1278G>C (p.Pro426=) rs1263322321
NM_001754.5(RUNX1):c.127C>T (p.Pro43Ser) rs1555899881
NM_001754.5(RUNX1):c.1280G>C (p.Arg427Pro)
NM_001754.5(RUNX1):c.1280G>T (p.Arg427Leu) rs1060502577
NM_001754.5(RUNX1):c.1281C>A (p.Arg427=)
NM_001754.5(RUNX1):c.1283T>G (p.Ile428Ser)
NM_001754.5(RUNX1):c.1283dup (p.Leu429fs) rs1555884845
NM_001754.5(RUNX1):c.1284C>G (p.Ile428Met)
NM_001754.5(RUNX1):c.1286T>C (p.Leu429Pro)
NM_001754.5(RUNX1):c.1286T>G (p.Leu429Arg) rs2056450952
NM_001754.5(RUNX1):c.1287G>C (p.Leu429=) rs1213507506
NM_001754.5(RUNX1):c.1290G>T (p.Pro430=)
NM_001754.5(RUNX1):c.1291C>G (p.Pro431Ala) rs2056450777
NM_001754.5(RUNX1):c.1292C>T (p.Pro431Leu) rs2056450734
NM_001754.5(RUNX1):c.1293C>T (p.Pro431=)
NM_001754.5(RUNX1):c.1294T>C (p.Cys432Arg) rs1060499613
NM_001754.5(RUNX1):c.1295G>A (p.Cys432Tyr)
NM_001754.5(RUNX1):c.1295G>C (p.Cys432Ser) rs1279963921
NM_001754.5(RUNX1):c.1295dup (p.Cys432fs)
NM_001754.5(RUNX1):c.1297A>G (p.Thr433Ala) rs2145873767
NM_001754.5(RUNX1):c.1298C>G (p.Thr433Ser) rs2145873756
NM_001754.5(RUNX1):c.12C>G (p.Asp4Glu) rs2059419520
NM_001754.5(RUNX1):c.12C>T (p.Asp4=)
NM_001754.5(RUNX1):c.1300A>G (p.Asn434Asp) rs1555884837
NM_001754.5(RUNX1):c.1302C>T (p.Asn434=)
NM_001754.5(RUNX1):c.1303G>T (p.Ala435Ser)
NM_001754.5(RUNX1):c.1305C>T (p.Ala435=) rs2145873635
NM_001754.5(RUNX1):c.1306T>G (p.Ser436Ala)
NM_001754.5(RUNX1):c.1307C>T (p.Ser436Phe)
NM_001754.5(RUNX1):c.1308C>T (p.Ser436=) rs2145873596
NM_001754.5(RUNX1):c.1309A>G (p.Thr437Ala) rs2145873574
NM_001754.5(RUNX1):c.1310C>T (p.Thr437Ile) rs982238500
NM_001754.5(RUNX1):c.1311C>A (p.Thr437=)
NM_001754.5(RUNX1):c.1311C>G (p.Thr437=) rs1555884827
NM_001754.5(RUNX1):c.1312G>A (p.Gly438Ser)
NM_001754.5(RUNX1):c.1313G>A (p.Gly438Asp) rs2056450088
NM_001754.5(RUNX1):c.1317C>G (p.Ser439=) rs1060504667
NM_001754.5(RUNX1):c.1317C>T (p.Ser439=) rs1060504667
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
NM_001754.5(RUNX1):c.1318G>C (p.Ala440Pro)
NM_001754.5(RUNX1):c.131C>G (p.Ser44Cys)
NM_001754.5(RUNX1):c.1320G>A (p.Ala440=) rs2145873390
NM_001754.5(RUNX1):c.1321_1322delinsTG (p.Leu441Trp)
NM_001754.5(RUNX1):c.1322T>C (p.Leu441Pro) rs777551786
NM_001754.5(RUNX1):c.1326C>T (p.Leu442=) rs1601332286
NM_001754.5(RUNX1):c.1328A>G (p.Asn443Ser)
NM_001754.5(RUNX1):c.1329C>A (p.Asn443Lys)
NM_001754.5(RUNX1):c.132dup (p.Thr45fs)
NM_001754.5(RUNX1):c.1336C>G (p.Leu446Val) rs2145873182
NM_001754.5(RUNX1):c.1336C>T (p.Leu446Phe)
NM_001754.5(RUNX1):c.1338C>A (p.Leu446=) rs769628054
NM_001754.5(RUNX1):c.1338C>G (p.Leu446=) rs769628054
NM_001754.5(RUNX1):c.133A>G (p.Thr45Ala)
NM_001754.5(RUNX1):c.133_135del (p.Thr45del) rs2146414026
NM_001754.5(RUNX1):c.1341G>A (p.Pro447=) rs1601332235
NM_001754.5(RUNX1):c.1345C>T (p.Gln449Ter)
NM_001754.5(RUNX1):c.1349G>A (p.Ser450Asn)
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
NM_001754.5(RUNX1):c.1353C>G (p.Asp451Glu)
NM_001754.5(RUNX1):c.1357G>A (p.Val453Met)
NM_001754.5(RUNX1):c.1359G>A (p.Val453=) rs2145872839
NM_001754.5(RUNX1):c.135C>G (p.Thr45=) rs1378434360
NM_001754.5(RUNX1):c.135C>T (p.Thr45=)
NM_001754.5(RUNX1):c.1362G>T (p.Glu454Asp)
NM_001754.5(RUNX1):c.1363del (p.Ala455fs)
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup) rs2056446750
NM_001754.5(RUNX1):c.1368G>C (p.Glu456Asp) rs1215912737
NM_001754.5(RUNX1):c.136G>A (p.Ala46Thr) rs2058005288
NM_001754.5(RUNX1):c.1370G>T (p.Gly457Val) rs572641102
NM_001754.5(RUNX1):c.1371C>A (p.Gly457=) rs2145872664
NM_001754.5(RUNX1):c.1377C>G (p.His459Gln) rs2145872600
NM_001754.5(RUNX1):c.1378A>G (p.Ser460Gly) rs2056448645
NM_001754.5(RUNX1):c.1379G>A (p.Ser460Asn) rs2056448611
NM_001754.5(RUNX1):c.1381A>G (p.Asn461Asp) rs1196493708
NM_001754.5(RUNX1):c.1382A>C (p.Asn461Thr)
NM_001754.5(RUNX1):c.1382A>G (p.Asn461Ser)
NM_001754.5(RUNX1):c.1382A>T (p.Asn461Ile) rs1601332087
NM_001754.5(RUNX1):c.1383C>T (p.Asn461=) rs1238208846
NM_001754.5(RUNX1):c.1387C>T (p.Pro463Ser) rs868387185
NM_001754.5(RUNX1):c.1388C>T (p.Pro463Leu) rs1601332036
NM_001754.5(RUNX1):c.1389C>T (p.Pro463=)
NM_001754.5(RUNX1):c.138G>T (p.Ala46=) rs747525766
NM_001754.5(RUNX1):c.1391C>T (p.Thr464Ile) rs2056448032
NM_001754.5(RUNX1):c.1395C>A (p.Asn465Lys) rs1447497062
NM_001754.5(RUNX1):c.1395C>T (p.Asn465=) rs1447497062
NM_001754.5(RUNX1):c.1396A>G (p.Met466Val) rs762213305
NM_001754.5(RUNX1):c.1397T>C (p.Met466Thr) rs1329096939
NM_001754.5(RUNX1):c.1397T>G (p.Met466Arg) rs1329096939
NM_001754.5(RUNX1):c.1399G>A (p.Ala467Thr)
NM_001754.5(RUNX1):c.1400C>A (p.Ala467Glu) rs1442794209
NM_001754.5(RUNX1):c.1405T>C (p.Ser469Pro)
NM_001754.5(RUNX1):c.1408G>A (p.Ala470Thr)
NM_001754.5(RUNX1):c.1409C>G (p.Ala470Gly)
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val) rs1601331921
NM_001754.5(RUNX1):c.140T>A (p.Leu47Gln) rs770530237
NM_001754.5(RUNX1):c.140_150del (p.Leu47fs) rs2146413726
NM_001754.5(RUNX1):c.1412G>A (p.Arg471His) rs2056447396
NM_001754.5(RUNX1):c.1412G>T (p.Arg471Leu) rs2056447396
NM_001754.5(RUNX1):c.1412_1413del (p.Arg471fs) rs1555884790
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.1417G>T (p.Glu473Ter)
NM_001754.5(RUNX1):c.1418A>C (p.Glu473Ala) rs1569001446
NM_001754.5(RUNX1):c.1419G>A (p.Glu473=)
NM_001754.5(RUNX1):c.1420G>A (p.Glu474Lys) rs2056446962
NM_001754.5(RUNX1):c.1422G>T (p.Glu474Asp) rs886057047
NM_001754.5(RUNX1):c.1423G>A (p.Ala475Thr) rs2056446865
NM_001754.5(RUNX1):c.1425C>T (p.Ala475=)
NM_001754.5(RUNX1):c.1426G>A (p.Val476Met) rs1195996714
NM_001754.5(RUNX1):c.1426G>T (p.Val476Leu)
NM_001754.5(RUNX1):c.1427T>C (p.Val476Ala) rs2145871712
NM_001754.5(RUNX1):c.1428G>T (p.Val476=) rs2145871684
NM_001754.5(RUNX1):c.1431G>C (p.Trp477Cys)
NM_001754.5(RUNX1):c.1432A>C (p.Arg478=)
NM_001754.5(RUNX1):c.1432_1433del (p.Arg478fs)
NM_001754.5(RUNX1):c.1434G>A (p.Arg478=)
NM_001754.5(RUNX1):c.1437C>T (p.Pro479=) rs1601331827
NM_001754.5(RUNX1):c.143G>A (p.Ser48Asn)
NM_001754.5(RUNX1):c.1441T>G (p.Ter481Gly)
NM_001754.5(RUNX1):c.144C>A (p.Ser48Arg)
NM_001754.5(RUNX1):c.145C>A (p.Pro49Thr) rs755793721
NM_001754.5(RUNX1):c.145C>G (p.Pro49Ala)
NM_001754.5(RUNX1):c.145C>T (p.Pro49Ser)
NM_001754.5(RUNX1):c.146del (p.Pro49fs)
NM_001754.5(RUNX1):c.147A>G (p.Pro49=)
NM_001754.5(RUNX1):c.148G>C (p.Gly50Arg)
NM_001754.5(RUNX1):c.149G>A (p.Gly50Asp) rs2146413739
NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs) rs2146413580
NM_001754.5(RUNX1):c.153G>T (p.Lys51Asn)
NM_001754.5(RUNX1):c.154A>G (p.Met52Val)
NM_001754.5(RUNX1):c.156G>A (p.Met52Ile) rs1555899861
NM_001754.5(RUNX1):c.157A>G (p.Ser53Gly) rs1601529435
NM_001754.5(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.5(RUNX1):c.160G>A (p.Glu54Lys)
NM_001754.5(RUNX1):c.160G>C (p.Glu54Gln) rs2146413491
NM_001754.5(RUNX1):c.161A>G (p.Glu54Gly)
NM_001754.5(RUNX1):c.161A>T (p.Glu54Val) rs2058004521
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.164C>T (p.Ala55Val)
NM_001754.5(RUNX1):c.165G>A (p.Ala55=) rs766206710
NM_001754.5(RUNX1):c.165G>T (p.Ala55=)
NM_001754.5(RUNX1):c.165dup (p.Leu56fs) rs2058004321
NM_001754.5(RUNX1):c.166T>C (p.Leu56=)
NM_001754.5(RUNX1):c.166_193dup (p.Ala65fs) rs1569084530
NM_001754.5(RUNX1):c.166_196del (p.Leu56fs) rs2058002908
NM_001754.5(RUNX1):c.170C>G (p.Pro57Arg) rs1266842690
NM_001754.5(RUNX1):c.170C>T (p.Pro57Leu) rs1266842690
NM_001754.5(RUNX1):c.171G>A (p.Pro57=)
NM_001754.5(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.5(RUNX1):c.172C>T (p.Leu58=) rs2146413221
NM_001754.5(RUNX1):c.177C>T (p.Gly59=) rs1001736939
NM_001754.5(RUNX1):c.178G>C (p.Ala60Pro) rs1254381316
NM_001754.5(RUNX1):c.180C>A (p.Ala60=)
NM_001754.5(RUNX1):c.180C>T (p.Ala60=) rs375562861
NM_001754.5(RUNX1):c.181C>A (p.Pro61Thr) rs776929941
NM_001754.5(RUNX1):c.181C>T (p.Pro61Ser) rs776929941
NM_001754.5(RUNX1):c.182C>G (p.Pro61Arg)
NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)
NM_001754.5(RUNX1):c.185A>G (p.Asp62Gly)
NM_001754.5(RUNX1):c.186C>A (p.Asp62Glu) rs886450546
NM_001754.5(RUNX1):c.186C>G (p.Asp62Glu) rs886450546
NM_001754.5(RUNX1):c.188C>T (p.Ala63Val)
NM_001754.5(RUNX1):c.189C>A (p.Ala63=) rs2058003198
NM_001754.5(RUNX1):c.189C>G (p.Ala63=) rs2058003198
NM_001754.5(RUNX1):c.189C>T (p.Ala63=)
NM_001754.5(RUNX1):c.190G>A (p.Gly64Ser) rs937170536
NM_001754.5(RUNX1):c.191_192insA (p.Ala65fs)
NM_001754.5(RUNX1):c.191_196del (p.Gly64_Ala65del) rs2146412458
NM_001754.5(RUNX1):c.193G>A (p.Ala65Thr)
NM_001754.5(RUNX1):c.193G>C (p.Ala65Pro)
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val) rs2058002974
NM_001754.5(RUNX1):c.196G>A (p.Ala66Thr)
NM_001754.5(RUNX1):c.197C>A (p.Ala66Asp)
NM_001754.5(RUNX1):c.198C>G (p.Ala66=)
NM_001754.5(RUNX1):c.203C>T (p.Ala68Val)
NM_001754.5(RUNX1):c.204C>G (p.Ala68=) rs746342521
NM_001754.5(RUNX1):c.204C>T (p.Ala68=)
NM_001754.5(RUNX1):c.205G>A (p.Gly69Ser) rs777168865
NM_001754.5(RUNX1):c.206G>A (p.Gly69Asp) rs769235124
NM_001754.5(RUNX1):c.206G>T (p.Gly69Val)
NM_001754.5(RUNX1):c.209A>C (p.Lys70Thr) rs1411791016
NM_001754.5(RUNX1):c.209A>G (p.Lys70Arg) rs1411791016
NM_001754.5(RUNX1):c.210G>A (p.Lys70=) rs2146411984
NM_001754.5(RUNX1):c.211C>G (p.Leu71Val)
NM_001754.5(RUNX1):c.213G>A (p.Leu71=) rs2146411874
NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs) rs1555899813
NM_001754.5(RUNX1):c.216G>A (p.Arg72=)
NM_001754.5(RUNX1):c.217A>G (p.Ser73Gly) rs2146411773
NM_001754.5(RUNX1):c.219C>G (p.Ser73Arg) rs1157495777
NM_001754.5(RUNX1):c.219C>T (p.Ser73=) rs1157495777
NM_001754.5(RUNX1):c.221G>T (p.Gly74Val)
NM_001754.5(RUNX1):c.222C>T (p.Gly74=) rs1269069934
NM_001754.5(RUNX1):c.223G>T (p.Asp75Tyr) rs2058001847
NM_001754.5(RUNX1):c.226C>T (p.Arg76Cys) rs1487924415
NM_001754.5(RUNX1):c.227G>A (p.Arg76His) rs780816315
NM_001754.5(RUNX1):c.227G>C (p.Arg76Pro)
NM_001754.5(RUNX1):c.228dup (p.Ser77fs)
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
NM_001754.5(RUNX1):c.232A>G (p.Met78Val) rs878854467
NM_001754.5(RUNX1):c.232A>T (p.Met78Leu) rs878854467
NM_001754.5(RUNX1):c.233T>C (p.Met78Thr) rs2058001205
NM_001754.5(RUNX1):c.234G>A (p.Met78Ile) rs2146411164
NM_001754.5(RUNX1):c.236T>A (p.Val79Glu) rs1601529045
NM_001754.5(RUNX1):c.236T>C (p.Val79Ala) rs1601529045
NM_001754.5(RUNX1):c.238_243del (p.Glu80_Val81del) rs746764369
NM_001754.5(RUNX1):c.23A>G (p.Glu8Gly) rs2059419426
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.5(RUNX1):c.242T>C (p.Val81Ala) rs1601528976
NM_001754.5(RUNX1):c.243G>A (p.Val81=) rs2146410848
NM_001754.5(RUNX1):c.243G>C (p.Val81=)
NM_001754.5(RUNX1):c.245T>A (p.Leu82Gln) rs2146410813
NM_001754.5(RUNX1):c.247dup (p.Ala83fs) rs2146410761
NM_001754.5(RUNX1):c.248C>T (p.Ala83Val)
NM_001754.5(RUNX1):c.249C>T (p.Ala83=) rs751280667
NM_001754.5(RUNX1):c.250G>A (p.Asp84Asn)
NM_001754.5(RUNX1):c.251A>G (p.Asp84Gly)
NM_001754.5(RUNX1):c.252C>G (p.Asp84Glu) rs2058000249
NM_001754.5(RUNX1):c.253C>T (p.His85Tyr) rs121912500
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.255C>T (p.His85=) rs56251824
NM_001754.5(RUNX1):c.256C>G (p.Pro86Ala) rs56020428
NM_001754.5(RUNX1):c.257C>T (p.Pro86Leu) rs2057999909
NM_001754.5(RUNX1):c.258G>A (p.Pro86=) rs55941652
NM_001754.5(RUNX1):c.258G>C (p.Pro86=) rs55941652
NM_001754.5(RUNX1):c.259_260delinsAA (p.Gly87Asn) rs2146410250
NM_001754.5(RUNX1):c.259_260dup (p.Glu88fs) rs2146410280
NM_001754.5(RUNX1):c.25T>A (p.Ser9Thr)
NM_001754.5(RUNX1):c.261C>A (p.Gly87=)
NM_001754.5(RUNX1):c.261C>G (p.Gly87=)
NM_001754.5(RUNX1):c.261C>T (p.Gly87=)
NM_001754.5(RUNX1):c.262G>C (p.Glu88Gln) rs1235407698
NM_001754.5(RUNX1):c.264G>C (p.Glu88Asp) rs542902574
NM_001754.5(RUNX1):c.264G>T (p.Glu88Asp) rs542902574
NM_001754.5(RUNX1):c.267G>A (p.Leu89=) rs2146409992
NM_001754.5(RUNX1):c.268G>A (p.Val90Met) rs2057999447
NM_001754.5(RUNX1):c.268del (p.Val90fs) rs2146409966
NM_001754.5(RUNX1):c.26C>A (p.Ser9Ter)
NM_001754.5(RUNX1):c.26C>T (p.Ser9Leu) rs2147041888
NM_001754.5(RUNX1):c.270G>A (p.Val90=) rs2146409870
NM_001754.5(RUNX1):c.270dup (p.Arg91fs) rs2057999400
NM_001754.5(RUNX1):c.275C>T (p.Thr92Ile)
NM_001754.5(RUNX1):c.276C>T (p.Thr92=)
NM_001754.5(RUNX1):c.277dup (p.Asp93fs)
NM_001754.5(RUNX1):c.278A>G (p.Asp93Gly) rs2146409620
NM_001754.5(RUNX1):c.27A>C (p.Ser9=) rs751800000
NM_001754.5(RUNX1):c.280A>C (p.Ser94Arg) rs1057523598
NM_001754.5(RUNX1):c.281G>C (p.Ser94Thr)
NM_001754.5(RUNX1):c.283C>T (p.Pro95Ser) rs2057999086
NM_001754.5(RUNX1):c.284C>T (p.Pro95Leu)
NM_001754.5(RUNX1):c.285del (p.Asn96fs)
NM_001754.5(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs) rs1601528701
NM_001754.5(RUNX1):c.291C>T (p.Phe97=) rs1432236291
NM_001754.5(RUNX1):c.292_334dup (p.Leu112fs)
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.293T>C (p.Leu98Pro)
NM_001754.5(RUNX1):c.294C>G (p.Leu98=) rs1368531129
NM_001754.5(RUNX1):c.296G>A (p.Cys99Tyr) rs2146409178
NM_001754.5(RUNX1):c.298T>A (p.Ser100Thr)
NM_001754.5(RUNX1):c.299C>T (p.Ser100Phe)
NM_001754.5(RUNX1):c.29T>C (p.Phe10Ser) rs2147041857
NM_001754.5(RUNX1):c.300C>T (p.Ser100=) rs764387069
NM_001754.5(RUNX1):c.301G>A (p.Val101Met) rs2146409049
NM_001754.5(RUNX1):c.301G>C (p.Val101Leu)
NM_001754.5(RUNX1):c.302TGC[1] (p.Leu102del)
NM_001754.5(RUNX1):c.303G>A (p.Val101=) rs142472642
NM_001754.5(RUNX1):c.304C>T (p.Leu102=)
NM_001754.5(RUNX1):c.305T>A (p.Leu102Gln) rs1569084132
NM_001754.5(RUNX1):c.310A>G (p.Thr104Ala)
NM_001754.5(RUNX1):c.311C>T (p.Thr104Met)
NM_001754.5(RUNX1):c.311del (p.Thr104fs)
NM_001754.5(RUNX1):c.312G>T (p.Thr104=)
NM_001754.5(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.5(RUNX1):c.315C>A (p.His105Gln) rs1601528621
NM_001754.5(RUNX1):c.316T>A (p.Trp106Arg) rs1555899735
NM_001754.5(RUNX1):c.316T>C (p.Trp106Arg) rs1555899735
NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) rs2057998110
NM_001754.5(RUNX1):c.318G>A (p.Trp106Ter)
NM_001754.5(RUNX1):c.318G>T (p.Trp106Cys)
NM_001754.5(RUNX1):c.319C>A (p.Arg107Ser) rs2057998063
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys) rs2057998063
NM_001754.5(RUNX1):c.31C>A (p.Pro11Thr)
NM_001754.5(RUNX1):c.31C>G (p.Pro11Ala)
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.328A>C (p.Lys110Gln)
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.330_331delinsTT (p.Lys110_Thr111delinsAsnSer)
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro) rs1555899722
NM_001754.5(RUNX1):c.331A>G (p.Thr111Ala) rs1555899722
NM_001754.5(RUNX1):c.331_336del (p.Thr111_Leu112del)
NM_001754.5(RUNX1):c.332C>G (p.Thr111Ser)
NM_001754.5(RUNX1):c.332C>T (p.Thr111Ile) rs759974526
NM_001754.5(RUNX1):c.333C>G (p.Thr111=) rs774852514
NM_001754.5(RUNX1):c.334del (p.Leu112fs) rs2057997486
NM_001754.5(RUNX1):c.335T>A (p.Leu112Gln) rs2146408091
NM_001754.5(RUNX1):c.337C>A (p.Pro113Thr) rs2146408031
NM_001754.5(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val) rs2146407952
NM_001754.5(RUNX1):c.341T>A (p.Ile114Asn)
NM_001754.5(RUNX1):c.341T>C (p.Ile114Thr)
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
NM_001754.5(RUNX1):c.343G>A (p.Ala115Thr)
NM_001754.5(RUNX1):c.346T>A (p.Phe116Ile)
NM_001754.5(RUNX1):c.349A>G (p.Lys117Glu) rs2146407735
NM_001754.5(RUNX1):c.349A>T (p.Lys117Ter)
NM_001754.5(RUNX1):c.351+10C>G rs776306850
NM_001754.5(RUNX1):c.351+14G>A
NM_001754.5(RUNX1):c.351+15A>C
NM_001754.5(RUNX1):c.351+19T>A
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.351+1G>C rs1060502579
NM_001754.5(RUNX1):c.351+1G>T rs1060502579
NM_001754.5(RUNX1):c.351+1_351+2dup
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.351+2T>C
NM_001754.5(RUNX1):c.351+3A>G
NM_001754.5(RUNX1):c.351+4C>T rs1229295922
NM_001754.5(RUNX1):c.351+5T>C rs1555899712
NM_001754.5(RUNX1):c.351+9C>T
NM_001754.5(RUNX1):c.352-11C>T
NM_001754.5(RUNX1):c.352-12_352-9del rs2146364222
NM_001754.5(RUNX1):c.352-13G>T
NM_001754.5(RUNX1):c.352-141_352-137del rs56243517
NM_001754.5(RUNX1):c.352-19T>C
NM_001754.5(RUNX1):c.352-5T>A
NM_001754.5(RUNX1):c.352G>A (p.Val118Met)
NM_001754.5(RUNX1):c.352G>T (p.Val118Leu) rs2057890361
NM_001754.5(RUNX1):c.354G>C (p.Val118=) rs1601516291
NM_001754.5(RUNX1):c.355G>A (p.Val119Met) rs2057890159
NM_001754.5(RUNX1):c.356T>C (p.Val119Ala) rs2146363953
NM_001754.5(RUNX1):c.356dup (p.Ala120fs)
NM_001754.5(RUNX1):c.358G>A (p.Ala120Thr) rs2146363912
NM_001754.5(RUNX1):c.35C>G (p.Ser12Trp)
NM_001754.5(RUNX1):c.361C>A (p.Leu121Ile) rs2146363846
NM_001754.5(RUNX1):c.361C>G (p.Leu121Val)
NM_001754.5(RUNX1):c.361C>T (p.Leu121=)
NM_001754.5(RUNX1):c.363A>G (p.Leu121=)
NM_001754.5(RUNX1):c.367G>A (p.Asp123Asn) rs373498347
NM_001754.5(RUNX1):c.368A>G (p.Asp123Gly) rs2057889754
NM_001754.5(RUNX1):c.36G>T (p.Ser12=) rs201490575
NM_001754.5(RUNX1):c.373C>T (p.Pro125Ser) rs2057889508
NM_001754.5(RUNX1):c.375A>G (p.Pro125=) rs2057889426
NM_001754.5(RUNX1):c.378T>G (p.Asp126Glu) rs2057889337
NM_001754.5(RUNX1):c.380G>T (p.Gly127Val) rs2146363397
NM_001754.5(RUNX1):c.384T>C (p.Thr128=) rs2146363318
NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
NM_001754.5(RUNX1):c.388G>C (p.Val130Leu)
NM_001754.5(RUNX1):c.389T>A (p.Val130Asp) rs2146363217
NM_001754.5(RUNX1):c.38A>T (p.Tyr13Phe) rs1601712203
NM_001754.5(RUNX1):c.390C>T (p.Val130=) rs1458985970
NM_001754.5(RUNX1):c.391A>G (p.Thr131Ala) rs1555898641
NM_001754.5(RUNX1):c.391_392insATCG (p.Thr131fs)
NM_001754.5(RUNX1):c.393T>C (p.Thr131=) rs746650216
NM_001754.5(RUNX1):c.397A>G (p.Met133Val)
NM_001754.5(RUNX1):c.3G>C (p.Met1Ile)
NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro) rs74315451
NM_001754.5(RUNX1):c.400_404del (p.Ala134fs)
NM_001754.5(RUNX1):c.401C>T (p.Ala134Val) rs2146362916
NM_001754.5(RUNX1):c.402T>C (p.Ala134=) rs1555898635
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser) rs1186716957
NM_001754.5(RUNX1):c.407A>T (p.Asn136Ile)
NM_001754.5(RUNX1):c.408T>A (p.Asn136Lys) rs1569079130
NM_001754.5(RUNX1):c.40C>A (p.Pro14Thr) rs1189256233
NM_001754.5(RUNX1):c.40C>T (p.Pro14Ser)
NM_001754.5(RUNX1):c.411dup (p.Glu138Ter)
NM_001754.5(RUNX1):c.412G>A (p.Glu138Lys) rs2057888324
NM_001754.5(RUNX1):c.414A>C (p.Glu138Asp) rs771823558
NM_001754.5(RUNX1):c.415A>G (p.Asn139Asp)
NM_001754.5(RUNX1):c.418T>C (p.Tyr140His)
NM_001754.5(RUNX1):c.421T>C (p.Ser141Pro)
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.422C>T (p.Ser141Leu) rs1601516118
NM_001754.5(RUNX1):c.422_423insAACC (p.Ala142fs)
NM_001754.5(RUNX1):c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142fs)
NM_001754.5(RUNX1):c.423G>C (p.Ser141=) rs745649956
NM_001754.5(RUNX1):c.423_424insAACC (p.Ala142fs)
NM_001754.5(RUNX1):c.423_427del (p.Leu144fs)
NM_001754.5(RUNX1):c.424del (p.Ala142fs)
NM_001754.5(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.5(RUNX1):c.425C>A (p.Ala142Asp)
NM_001754.5(RUNX1):c.428_439dup (p.Glu143_Asn146dup) rs2146361978
NM_001754.5(RUNX1):c.430C>T (p.Leu144=)
NM_001754.5(RUNX1):c.431T>A (p.Leu144Gln)
NM_001754.5(RUNX1):c.431T>C (p.Leu144Pro)
NM_001754.5(RUNX1):c.432G>A (p.Leu144=)
NM_001754.5(RUNX1):c.433A>C (p.Arg145=) rs757288001
NM_001754.5(RUNX1):c.433A>G (p.Arg145Gly) rs757288001
NM_001754.5(RUNX1):c.436A>T (p.Asn146Tyr) rs2057887317
NM_001754.5(RUNX1):c.437A>T (p.Asn146Ile) rs1569079034
NM_001754.5(RUNX1):c.438T>C (p.Asn146=)
NM_001754.5(RUNX1):c.440C>G (p.Ala147Gly) rs2146361920
NM_001754.5(RUNX1):c.440C>T (p.Ala147Val) rs2146361920
NM_001754.5(RUNX1):c.442_444dup (p.Thr148_Ala149insThr)
NM_001754.5(RUNX1):c.442_449del (p.Thr148fs) rs587776811
NM_001754.5(RUNX1):c.443C>G (p.Thr148Ser)
NM_001754.5(RUNX1):c.443C>T (p.Thr148Ile) rs2057886829
NM_001754.5(RUNX1):c.447A>C (p.Ala149=) rs1383915216
NM_001754.5(RUNX1):c.449C>A (p.Ala150Asp)
NM_001754.5(RUNX1):c.44A>G (p.Gln15Arg) rs1451712499
NM_001754.5(RUNX1):c.451A>G (p.Met151Val) rs781461238
NM_001754.5(RUNX1):c.451A>T (p.Met151Leu)
NM_001754.5(RUNX1):c.453G>T (p.Met151Ile)
NM_001754.5(RUNX1):c.455A>G (p.Lys152Arg) rs913480708
NM_001754.5(RUNX1):c.458del (p.Asn153fs)
NM_001754.5(RUNX1):c.45dup (p.Cys16fs) rs2059419230
NM_001754.5(RUNX1):c.461A>G (p.Gln154Arg) rs751954304
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile) rs763464804
NM_001754.5(RUNX1):c.465T>G (p.Val155=) rs2146361304
NM_001754.5(RUNX1):c.465_467dup (p.Ala156_Arg157insAla)
NM_001754.5(RUNX1):c.466G>A (p.Ala156Thr)
NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu) rs267607026
NM_001754.5(RUNX1):c.46_47del (p.Cys16fs) rs2147041720
NM_001754.5(RUNX1):c.474T>C (p.Phe158=)
NM_001754.5(RUNX1):c.475A>G (p.Asn159Asp) rs2057885323
NM_001754.5(RUNX1):c.479A>G (p.Asp160Gly) rs2146360919
NM_001754.5(RUNX1):c.480C>T (p.Asp160=)
NM_001754.5(RUNX1):c.482T>A (p.Leu161His)
NM_001754.5(RUNX1):c.482T>C (p.Leu161Pro) rs2057885248
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.484_485delinsGC (p.Arg162Ala)
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.485G>C (p.Arg162Thr)
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.488T>G (p.Phe163Cys) rs1569078862
NM_001754.5(RUNX1):c.489T>A (p.Phe163Leu) rs763581932
NM_001754.5(RUNX1):c.489dup (p.Val164fs)
NM_001754.5(RUNX1):c.490G>A (p.Val164Ile)
NM_001754.5(RUNX1):c.490G>T (p.Val164Phe) rs760221080
NM_001754.5(RUNX1):c.492C>G (p.Val164=) rs200907577
NM_001754.5(RUNX1):c.493G>A (p.Gly165Ser) rs993436723
NM_001754.5(RUNX1):c.493G>C (p.Gly165Arg)
NM_001754.5(RUNX1):c.494_508+5dup rs1569078757
NM_001754.5(RUNX1):c.496C>A (p.Arg166=) rs759068561
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.500G>C (p.Ser167Thr) rs2146360406
NM_001754.5(RUNX1):c.500_502delinsTT (p.Ser167fs)
NM_001754.5(RUNX1):c.501T>C (p.Ser167=)
NM_001754.5(RUNX1):c.501_508+2dup
NM_001754.5(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.5(RUNX1):c.502G>A (p.Gly168Arg) rs1569078784
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_001754.5(RUNX1):c.503G>A (p.Gly168Glu)
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val) rs2057884016
NM_001754.5(RUNX1):c.503del (p.Gly168fs) rs2146360319
NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.5(RUNX1):c.505A>G (p.Arg169Gly) rs2146360262
NM_001754.5(RUNX1):c.505dup (p.Arg169fs)
NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile) rs2057883934
NM_001754.5(RUNX1):c.507A>G (p.Arg169=)
NM_001754.5(RUNX1):c.508+10C>G rs2146359949
NM_001754.5(RUNX1):c.508+14C>A
NM_001754.5(RUNX1):c.508+14C>G rs2146359868
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.508+1G>C rs1601515718
NM_001754.5(RUNX1):c.508+1G>T rs1601515718
NM_001754.5(RUNX1):c.508+20T>C rs748235501
NM_001754.5(RUNX1):c.508+20T>G
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.508+3del rs587776810
NM_001754.5(RUNX1):c.508+4C>A
NM_001754.5(RUNX1):c.508+4C>T rs770788424
NM_001754.5(RUNX1):c.508+6T>C rs2057883210
NM_001754.5(RUNX1):c.508+8A>T rs2146359978
NM_001754.5(RUNX1):c.508+9T>G rs549290119
NM_001754.5(RUNX1):c.508G>A (p.Gly170Arg)
NM_001754.5(RUNX1):c.508G>C (p.Gly170Arg) rs2146360175
NM_001754.5(RUNX1):c.508_508+10del
NM_001754.5(RUNX1):c.509-10G>A rs2146237170
NM_001754.5(RUNX1):c.509-10G>C
NM_001754.5(RUNX1):c.509-10del
NM_001754.5(RUNX1):c.509-11T>A rs2146237192
NM_001754.5(RUNX1):c.509-11T>C
NM_001754.5(RUNX1):c.509-12G>T rs200727741
NM_001754.5(RUNX1):c.509-13C>T
NM_001754.5(RUNX1):c.509-14T>A rs2146237245
NM_001754.5(RUNX1):c.509-15A>G
NM_001754.5(RUNX1):c.509-17C>T
NM_001754.5(RUNX1):c.509-18T>C rs879084418
NM_001754.5(RUNX1):c.509-19C>T rs562815180
NM_001754.5(RUNX1):c.509-1G>A
NM_001754.5(RUNX1):c.509-281G>T rs2248720
NM_001754.5(RUNX1):c.509-3C>G rs2146237064
NM_001754.5(RUNX1):c.509-5C>T
NM_001754.5(RUNX1):c.509-7C>T
NM_001754.5(RUNX1):c.509-8C>G rs1601470889
NM_001754.5(RUNX1):c.510G>A (p.Gly170=) rs2057542703
NM_001754.5(RUNX1):c.510G>T (p.Gly170=) rs2057542703
NM_001754.5(RUNX1):c.512A>T (p.Lys171Ile) rs2146236944
NM_001754.5(RUNX1):c.513A>G (p.Lys171=) rs2146236928
NM_001754.5(RUNX1):c.517T>C (p.Phe173Leu)
NM_001754.5(RUNX1):c.519C>T (p.Phe173=) rs2146236792
NM_001754.5(RUNX1):c.520A>G (p.Thr174Ala)
NM_001754.5(RUNX1):c.521C>T (p.Thr174Ile) rs2057542528
NM_001754.5(RUNX1):c.522T>C (p.Thr174=)
NM_001754.5(RUNX1):c.524T>A (p.Leu175Gln)
NM_001754.5(RUNX1):c.527C>A (p.Thr176Asn) rs2146236580
NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs) rs2146236515
NM_001754.5(RUNX1):c.528del (p.Ile177fs)
NM_001754.5(RUNX1):c.530_532dup (p.Ile177dup) rs1555894743
NM_001754.5(RUNX1):c.532A>C (p.Thr178Pro) rs1569061931
NM_001754.5(RUNX1):c.533C>G (p.Thr178Ser) rs2146236397
NM_001754.5(RUNX1):c.534T>G (p.Thr178=) rs2146236380
NM_001754.5(RUNX1):c.535G>A (p.Val179Ile) rs1302205736
NM_001754.5(RUNX1):c.546C>A (p.Asn182Lys)
NM_001754.5(RUNX1):c.546C>G (p.Asn182Lys)
NM_001754.5(RUNX1):c.546C>T (p.Asn182=) rs773071163
NM_001754.5(RUNX1):c.549A>G (p.Pro183=)
NM_001754.5(RUNX1):c.54dup (p.Arg19fs)
NM_001754.5(RUNX1):c.551C>T (p.Pro184Leu)
NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)
NM_001754.5(RUNX1):c.552G>A (p.Pro184=) rs752586117
NM_001754.5(RUNX1):c.554A>C (p.Gln185Pro) rs1569061888
NM_001754.5(RUNX1):c.557T>A (p.Val186Asp) rs797045927
NM_001754.5(RUNX1):c.557T>C (p.Val186Ala)
NM_001754.5(RUNX1):c.557T>G (p.Val186Gly)
NM_001754.5(RUNX1):c.558C>G (p.Val186=) rs938065676
NM_001754.5(RUNX1):c.559G>A (p.Ala187Thr) rs1429953108
NM_001754.5(RUNX1):c.559G>T (p.Ala187Ser) rs1429953108
NM_001754.5(RUNX1):c.560C>T (p.Ala187Val)
NM_001754.5(RUNX1):c.563C>G (p.Thr188Ser) rs1343295642
NM_001754.5(RUNX1):c.564C>T (p.Thr188=) rs781348463
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs) rs2146235138
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter) rs1569061831
NM_001754.5(RUNX1):c.572G>A (p.Arg191Lys)
NM_001754.5(RUNX1):c.577A>G (p.Ile193Val) rs1569061812
NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn) rs1601470652
NM_001754.5(RUNX1):c.58+10T>C
NM_001754.5(RUNX1):c.58+12C>G
NM_001754.5(RUNX1):c.58+12C>T rs1323454260
NM_001754.5(RUNX1):c.58+13T>G rs2147041559
NM_001754.5(RUNX1):c.58+15G>A rs1277109253
NM_001754.5(RUNX1):c.58+20G>A rs374862060
NM_001754.5(RUNX1):c.58+5G>A rs2147041647
NM_001754.5(RUNX1):c.58+5_58+7del
NM_001754.5(RUNX1):c.58+8C>T
NM_001754.5(RUNX1):c.58+9A>C rs553468449
NM_001754.5(RUNX1):c.58+9A>G rs553468449
NM_001754.5(RUNX1):c.580A>G (p.Lys194Glu)
NM_001754.5(RUNX1):c.581A>C (p.Lys194Thr) rs2146235183
NM_001754.5(RUNX1):c.581A>T (p.Lys194Ile)
NM_001754.5(RUNX1):c.581_586del (p.Lys194_Ile195del) rs1569061793
NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn) rs1569061799
NM_001754.5(RUNX1):c.585del (p.Thr196fs) rs2146235121
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) rs2057541324
NM_001754.5(RUNX1):c.588A>G (p.Thr196=) rs2057541225
NM_001754.5(RUNX1):c.588_594del (p.Val197fs)
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_001754.5(RUNX1):c.59-11T>G
NM_001754.5(RUNX1):c.59-12C>A rs202245096
NM_001754.5(RUNX1):c.59-12_59-11del rs762416613
NM_001754.5(RUNX1):c.59-16C>T
NM_001754.5(RUNX1):c.59-17_59-15del rs1490343331
NM_001754.5(RUNX1):c.59-20C>G rs772203397
NM_001754.5(RUNX1):c.59-43688C>G
NM_001754.5(RUNX1):c.59-48942A>G
NM_001754.5(RUNX1):c.59-4T>C rs2058096530
NM_001754.5(RUNX1):c.59-53465A>T
NM_001754.5(RUNX1):c.59-6T>C rs2058096569
NM_001754.5(RUNX1):c.590T>C (p.Val197Ala)
NM_001754.5(RUNX1):c.590_597del (p.Val197fs)
NM_001754.5(RUNX1):c.592G>A (p.Asp198Asn)
NM_001754.5(RUNX1):c.592G>T (p.Asp198Tyr)
NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala) rs1569061786
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg) rs1601470582
NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu) rs2057541040
NM_001754.5(RUNX1):c.596G>C (p.Gly199Ala)
NM_001754.5(RUNX1):c.597G>A (p.Gly199=) rs2146234640
NM_001754.5(RUNX1):c.597_598insGCC (p.Gly199_Pro200insAla)
NM_001754.5(RUNX1):c.599C>A (p.Pro200His) rs2057540949
NM_001754.5(RUNX1):c.600C>T (p.Pro200=) rs2146234551
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.601dup (p.Arg201fs) rs2146234527
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.612A>G (p.Arg204=)
NM_001754.5(RUNX1):c.613+12C>T
NM_001754.5(RUNX1):c.613+14C>G rs2146234005
NM_001754.5(RUNX1):c.613+16T>C
NM_001754.5(RUNX1):c.613+1G>A
NM_001754.5(RUNX1):c.613+20G>A
NM_001754.5(RUNX1):c.613+20G>T
NM_001754.5(RUNX1):c.613+6T>C rs2146234153
NM_001754.5(RUNX1):c.614-11C>A rs766432660
NM_001754.5(RUNX1):c.614-11C>G
NM_001754.5(RUNX1):c.614-12_614-11delinsCT
NM_001754.5(RUNX1):c.614-13C>T
NM_001754.5(RUNX1):c.614-15T>C
NM_001754.5(RUNX1):c.614-15_614-9dup rs540348804
NM_001754.5(RUNX1):c.614-16C>G rs2146077389
NM_001754.5(RUNX1):c.614-17_614-16insCCCATCCCCTCCCCTCCT rs2146077429
NM_001754.5(RUNX1):c.614-18C>G rs1261174356
NM_001754.5(RUNX1):c.614-18C>T
NM_001754.5(RUNX1):c.614-20C>A
NM_001754.5(RUNX1):c.614-20C>G
NM_001754.5(RUNX1):c.614-25CTCCC[4] rs2146077409
NM_001754.5(RUNX1):c.614-3T>A rs762247645
NM_001754.5(RUNX1):c.614-5A>C
NM_001754.5(RUNX1):c.614-5A>G rs1601416069
NM_001754.5(RUNX1):c.614-7A>C rs763091190
NM_001754.5(RUNX1):c.614-7A>G
NM_001754.5(RUNX1):c.614-7A>T rs763091190
NM_001754.5(RUNX1):c.614-8C>A
NM_001754.5(RUNX1):c.614-9C>T rs999210074
NM_001754.5(RUNX1):c.617A>G (p.His206Arg) rs2057115881
NM_001754.5(RUNX1):c.619C>G (p.Arg207Gly)
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln) rs1229231012
NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter) rs1601416036
NM_001754.5(RUNX1):c.623A>G (p.Gln208Arg) rs777320434
NM_001754.5(RUNX1):c.627A>G (p.Lys209=) rs1419013956
NM_001754.5(RUNX1):c.631G>C (p.Asp211His)
NM_001754.5(RUNX1):c.633T>C (p.Asp211=)
NM_001754.5(RUNX1):c.637_638del (p.Gln213fs)
NM_001754.5(RUNX1):c.637del (p.Gln213fs) rs2146076947
NM_001754.5(RUNX1):c.63C>A (p.Cys21Ter)
NM_001754.5(RUNX1):c.645G>T (p.Lys215Asn) rs1312588693
NM_001754.5(RUNX1):c.646C>T (p.Pro216Ser) rs1433717208
NM_001754.5(RUNX1):c.648C>G (p.Pro216=)
NM_001754.5(RUNX1):c.650G>C (p.Gly217Ala) rs1372473921
NM_001754.5(RUNX1):c.651G>A (p.Gly217=) rs1569037346
NM_001754.5(RUNX1):c.651G>C (p.Gly217=) rs1569037346
NM_001754.5(RUNX1):c.656T>C (p.Leu219Ser) rs2057114781
NM_001754.5(RUNX1):c.656_674del (p.Leu219fs)
NM_001754.5(RUNX1):c.657G>A (p.Leu219=)
NM_001754.5(RUNX1):c.658T>C (p.Ser220Pro) rs2146076657
NM_001754.5(RUNX1):c.658T>G (p.Ser220Ala)
NM_001754.5(RUNX1):c.65T>C (p.Ile22Thr) rs749430925
NM_001754.5(RUNX1):c.660C>A (p.Ser220=) rs2146076625
NM_001754.5(RUNX1):c.662T>G (p.Phe221Cys) rs2057114648
NM_001754.5(RUNX1):c.664T>C (p.Ser222Pro)
NM_001754.5(RUNX1):c.664dup (p.Ser222fs) rs2146076572
NM_001754.5(RUNX1):c.670C>A (p.Arg224=) rs2057114397
NM_001754.5(RUNX1):c.670C>T (p.Arg224Trp) rs2057114397
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln) rs754894156
NM_001754.5(RUNX1):c.672G>T (p.Arg224=)
NM_001754.5(RUNX1):c.673C>T (p.Leu225Phe)
NM_001754.5(RUNX1):c.674T>G (p.Leu225Arg) rs2057114262
NM_001754.5(RUNX1):c.677G>C (p.Ser226Thr)
NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.5(RUNX1):c.682C>T (p.Leu228=)
NM_001754.5(RUNX1):c.683T>C (p.Leu228Pro)
NM_001754.5(RUNX1):c.685G>A (p.Glu229Lys) rs1601415787
NM_001754.5(RUNX1):c.689A>G (p.Gln230Arg) rs2057113892
NM_001754.5(RUNX1):c.690_691delinsAA (p.Leu231Met) rs1569037241
NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)
NM_001754.5(RUNX1):c.695G>A (p.Arg232Gln) rs368711448
NM_001754.5(RUNX1):c.695_696del (p.Arg232fs)
NM_001754.5(RUNX1):c.696del (p.Arg233fs)
NM_001754.5(RUNX1):c.696dup (p.Arg233fs)
NM_001754.5(RUNX1):c.697del (p.Arg233fs)
NM_001754.5(RUNX1):c.698del (p.Arg233fs)
NM_001754.5(RUNX1):c.699C>T (p.Arg233=) rs2146076038
NM_001754.5(RUNX1):c.701C>T (p.Thr234Ile)
NM_001754.5(RUNX1):c.702A>G (p.Thr234=) rs2146076013
NM_001754.5(RUNX1):c.708G>A (p.Met236Ile) rs1060502578
NM_001754.5(RUNX1):c.708G>C (p.Met236Ile) rs1060502578
NM_001754.5(RUNX1):c.709A>G (p.Arg237Gly)
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) rs1399187182
NM_001754.5(RUNX1):c.711G>A (p.Arg237=)
NM_001754.5(RUNX1):c.713_726del (p.Val238fs) rs2146075609
NM_001754.5(RUNX1):c.715A>T (p.Ser239Cys) rs770402861
NM_001754.5(RUNX1):c.716G>A (p.Ser239Asn)
NM_001754.5(RUNX1):c.716G>T (p.Ser239Ile)
NM_001754.5(RUNX1):c.717C>T (p.Ser239=) rs1601415639
NM_001754.5(RUNX1):c.718C>G (p.Pro240Ala) rs1569037137
NM_001754.5(RUNX1):c.718C>T (p.Pro240Ser) rs1569037137
NM_001754.5(RUNX1):c.719C>T (p.Pro240Leu)
NM_001754.5(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.5(RUNX1):c.71G>A (p.Gly24Glu)
NM_001754.5(RUNX1):c.71G>C (p.Gly24Ala) rs2146454339
NM_001754.5(RUNX1):c.720A>C (p.Pro240=)
NM_001754.5(RUNX1):c.722A>G (p.His241Arg)
NM_001754.5(RUNX1):c.723C>G (p.His241Gln) rs2057112854
NM_001754.5(RUNX1):c.723_729dup (p.Ala244fs)
NM_001754.5(RUNX1):c.727C>A (p.Pro243Thr) rs1420171638
NM_001754.5(RUNX1):c.728C>T (p.Pro243Leu) rs772889171
NM_001754.5(RUNX1):c.730G>A (p.Ala244Thr) rs2057112574
NM_001754.5(RUNX1):c.731C>T (p.Ala244Val) rs2146075500
NM_001754.5(RUNX1):c.734C>T (p.Pro245Leu)
NM_001754.5(RUNX1):c.735C>A (p.Pro245=) rs902762123
NM_001754.5(RUNX1):c.735C>G (p.Pro245=) rs902762123
NM_001754.5(RUNX1):c.735del (p.Thr246fs) rs2146075448
NM_001754.5(RUNX1):c.736A>G (p.Thr246Ala) rs2057112296
NM_001754.5(RUNX1):c.737C>A (p.Thr246Lys) rs555366994
NM_001754.5(RUNX1):c.737C>G (p.Thr246Arg) rs555366994
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser) rs2057112093
NM_001754.5(RUNX1):c.741C>T (p.Pro247=) rs1060504668
NM_001754.5(RUNX1):c.744C>T (p.Asn248=) rs1555889947
NM_001754.5(RUNX1):c.747T>A (p.Pro249=)
NM_001754.5(RUNX1):c.74T>C (p.Met25Thr)
NM_001754.5(RUNX1):c.74T>G (p.Met25Arg) rs1389244175
NM_001754.5(RUNX1):c.750T>A (p.Arg250=) rs2146075198
NM_001754.5(RUNX1):c.756C>T (p.Ser252=)
NM_001754.5(RUNX1):c.757C>T (p.Leu253=)
NM_001754.5(RUNX1):c.759G>A (p.Leu253=) rs2146075058
NM_001754.5(RUNX1):c.761A>G (p.Asn254Ser) rs2146075026
NM_001754.5(RUNX1):c.762C>G (p.Asn254Lys) rs2146075007
NM_001754.5(RUNX1):c.764_765del (p.His255fs)
NM_001754.5(RUNX1):c.765C>T (p.His255=)
NM_001754.5(RUNX1):c.766T>C (p.Ser256Pro)
NM_001754.5(RUNX1):c.767C>T (p.Ser256Phe)
NM_001754.5(RUNX1):c.768C>T (p.Ser256=) rs780019726
NM_001754.5(RUNX1):c.769A>G (p.Thr257Ala)
NM_001754.5(RUNX1):c.770C>T (p.Thr257Ile) rs1555889935
NM_001754.5(RUNX1):c.772G>A (p.Ala258Thr)
NM_001754.5(RUNX1):c.772G>T (p.Ala258Ser) rs2146074844
NM_001754.5(RUNX1):c.777T>C (p.Phe259=) rs2146074789
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
NM_001754.5(RUNX1):c.777dup (p.Asn260Ter) rs2146074811
NM_001754.5(RUNX1):c.779A>G (p.Asn260Ser) rs1569036981
NM_001754.5(RUNX1):c.781C>T (p.Pro261Ser) rs2146074722
NM_001754.5(RUNX1):c.782C>T (p.Pro261Leu) rs2146074704
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
NM_001754.5(RUNX1):c.784C>T (p.Gln262Ter) rs1601415426
NM_001754.5(RUNX1):c.785A>G (p.Gln262Arg)
NM_001754.5(RUNX1):c.790C>G (p.Gln264Glu) rs765362075
NM_001754.5(RUNX1):c.791A>G (p.Gln264Arg) rs2057110932
NM_001754.5(RUNX1):c.792G>C (p.Gln264His) rs2057110893
NM_001754.5(RUNX1):c.796C>T (p.Gln266Ter)
NM_001754.5(RUNX1):c.798G>A (p.Gln266=) rs2146074496
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
NM_001754.5(RUNX1):c.7del (p.Ser3fs) rs2147041983
NM_001754.5(RUNX1):c.801del (p.Met267fs)
NM_001754.5(RUNX1):c.802C>T (p.Gln268Ter) rs2146074437
NM_001754.5(RUNX1):c.803A>G (p.Gln268Arg)
NM_001754.5(RUNX1):c.805+12710T>A
NM_001754.5(RUNX1):c.805+12723_805+12724del
NM_001754.5(RUNX1):c.805+12A>C
NM_001754.5(RUNX1):c.805+16A>G rs2146074249
NM_001754.5(RUNX1):c.805+18C>T
NM_001754.5(RUNX1):c.805+19C>G
NM_001754.5(RUNX1):c.805+1G>T rs2146074371
NM_001754.5(RUNX1):c.805+1_805+2dup
NM_001754.5(RUNX1):c.805+4A>G
NM_001754.5(RUNX1):c.805+5G>A
NM_001754.5(RUNX1):c.805+8C>T
NM_001754.5(RUNX1):c.805+9C>G rs2146074316
NM_001754.5(RUNX1):c.805G>C (p.Asp269His) rs1060502574
NM_001754.5(RUNX1):c.806-11A>T
NM_001754.5(RUNX1):c.806-13del
NM_001754.5(RUNX1):c.806-14C>T rs2145910297
NM_001754.5(RUNX1):c.806-15T>C
NM_001754.5(RUNX1):c.806-15dup
NM_001754.5(RUNX1):c.806-16_806-13del
NM_001754.5(RUNX1):c.806-19C>T
NM_001754.5(RUNX1):c.806-1G>A
NM_001754.5(RUNX1):c.806-1G>T
NM_001754.5(RUNX1):c.806-20A>C
NM_001754.5(RUNX1):c.806-3C>T rs866812011
NM_001754.5(RUNX1):c.806-5T>C
NM_001754.5(RUNX1):c.806-7T>G rs2056578336
NM_001754.5(RUNX1):c.806-8C>A
NM_001754.5(RUNX1):c.806-8C>T rs1200875659
NM_001754.5(RUNX1):c.813G>A (p.Arg271=) rs763723245
NM_001754.5(RUNX1):c.813del (p.Arg271fs) rs2145910106
NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)
NM_001754.5(RUNX1):c.818T>C (p.Ile273Thr) rs2145909999
NM_001754.5(RUNX1):c.820C>T (p.Gln274Ter)
NM_001754.5(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.822A>G (p.Gln274=) rs370766377
NM_001754.5(RUNX1):c.823C>T (p.Pro275Ser) rs2056577888
NM_001754.5(RUNX1):c.829C>G (p.Pro277Ala)
NM_001754.5(RUNX1):c.829C>T (p.Pro277Ser) rs2145909839
NM_001754.5(RUNX1):c.82_84del (p.Ser28del) rs775050403
NM_001754.5(RUNX1):c.830del (p.Pro277fs) rs2145909826
NM_001754.5(RUNX1):c.831A>C (p.Pro277=) rs1601348386
NM_001754.5(RUNX1):c.833C>T (p.Pro278Leu) rs759227406
NM_001754.5(RUNX1):c.837G>T (p.Trp279Cys) rs2056577465
NM_001754.5(RUNX1):c.842A>G (p.Tyr281Cys)
NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn) rs762953695
NM_001754.5(RUNX1):c.844G>C (p.Asp282His)
NM_001754.5(RUNX1):c.844_856del (p.Asp282fs) rs2056577059
NM_001754.5(RUNX1):c.847C>T (p.Gln283Ter) rs374341207
NM_001754.5(RUNX1):c.848A>C (p.Gln283Pro) rs1555885620
NM_001754.5(RUNX1):c.848A>G (p.Gln283Arg) rs1555885620
NM_001754.5(RUNX1):c.849G>A (p.Gln283=)
NM_001754.5(RUNX1):c.849G>C (p.Gln283His) rs1056623039
NM_001754.5(RUNX1):c.84T>C (p.Ser28=) rs2146454266
NM_001754.5(RUNX1):c.854A>G (p.Tyr285Cys) rs1191218095
NM_001754.5(RUNX1):c.859T>C (p.Tyr287His)
NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.861C>T (p.Tyr287=) rs121912499
NM_001754.5(RUNX1):c.862C>T (p.Leu288=)
NM_001754.5(RUNX1):c.865G>C (p.Gly289Arg) rs1258447643
NM_001754.5(RUNX1):c.869C>G (p.Ser290Cys)
NM_001754.5(RUNX1):c.86G>A (p.Arg29Lys)
NM_001754.5(RUNX1):c.877T>C (p.Ser293Pro)
NM_001754.5(RUNX1):c.883T>C (p.Ser295Pro) rs780399121
NM_001754.5(RUNX1):c.883_885del (p.Ser295del) rs771972670
NM_001754.5(RUNX1):c.886G>A (p.Val296Met) rs2145908772
NM_001754.5(RUNX1):c.891C>A (p.His297Gln) rs1235495225
NM_001754.5(RUNX1):c.891C>T (p.His297=) rs1235495225
NM_001754.5(RUNX1):c.891_904del (p.Pro298fs)
NM_001754.5(RUNX1):c.893C>T (p.Pro298Leu)
NM_001754.5(RUNX1):c.894A>G (p.Pro298=)
NM_001754.5(RUNX1):c.895G>A (p.Ala299Thr)
NM_001754.5(RUNX1):c.897A>G (p.Ala299=)
NM_001754.5(RUNX1):c.899C>G (p.Thr300Arg) rs758682659
NM_001754.5(RUNX1):c.903C>T (p.Pro301=)
NM_001754.5(RUNX1):c.910C>T (p.Pro304Ser) rs2056575944
NM_001754.5(RUNX1):c.911dup (p.Gly305fs)
NM_001754.5(RUNX1):c.914G>T (p.Gly305Val)
NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro) rs139336358
NM_001754.5(RUNX1):c.91G>A (p.Val31Ile) rs567408332
NM_001754.5(RUNX1):c.920C>T (p.Ala307Val)
NM_001754.5(RUNX1):c.921C>T (p.Ala307=)
NM_001754.5(RUNX1):c.926G>A (p.Gly309Asp)
NM_001754.5(RUNX1):c.928A>T (p.Met310Leu) rs1476051141
NM_001754.5(RUNX1):c.92T>C (p.Val31Ala) rs2146454210
NM_001754.5(RUNX1):c.935C>A (p.Thr312Asn) rs2145907659
NM_001754.5(RUNX1):c.938T>C (p.Leu313Pro) rs766264813
NM_001754.5(RUNX1):c.939_950del (p.Ala315_Ser318del) rs748122795
NM_001754.5(RUNX1):c.941C>G (p.Ser314Cys) rs2056575081
NM_001754.5(RUNX1):c.946G>A (p.Glu316Lys) rs762642960
NM_001754.5(RUNX1):c.946G>C (p.Glu316Gln) rs762642960
NM_001754.5(RUNX1):c.947A>G (p.Glu316Gly)
NM_001754.5(RUNX1):c.948A>C (p.Glu316Asp) rs2056574953
NM_001754.5(RUNX1):c.950T>G (p.Leu317Arg)
NM_001754.5(RUNX1):c.952T>C (p.Ser318Pro) rs545554349
NM_001754.5(RUNX1):c.952dup (p.Ser318fs)
NM_001754.5(RUNX1):c.954C>T (p.Ser318=)
NM_001754.5(RUNX1):c.956G>A (p.Ser319Asn) rs2145907184
NM_001754.5(RUNX1):c.957T>C (p.Ser319=) rs2145907165
NM_001754.5(RUNX1):c.957_958insG (p.Arg320fs) rs2145907149
NM_001754.5(RUNX1):c.957_959del (p.Ser319del) rs2056574697
NM_001754.5(RUNX1):c.958C>A (p.Arg320=)
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.959G>T (p.Arg320Leu)
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
NM_001754.5(RUNX1):c.965del (p.Leu321_Ser322insTer) rs2145906988
NM_001754.5(RUNX1):c.967+11T>G
NM_001754.5(RUNX1):c.967+13A>G
NM_001754.5(RUNX1):c.967+2_967+5del rs2056574456
NM_001754.5(RUNX1):c.967+5G>A rs2056574406
NM_001754.5(RUNX1):c.967+6C>G
NM_001754.5(RUNX1):c.968-10C>A rs1476636108
NM_001754.5(RUNX1):c.968-10C>T rs1476636108
NM_001754.5(RUNX1):c.968-11C>T
NM_001754.5(RUNX1):c.968-15T>C
NM_001754.5(RUNX1):c.968-16C>G rs558410967
NM_001754.5(RUNX1):c.968-18C>T
NM_001754.5(RUNX1):c.968-3C>A
NM_001754.5(RUNX1):c.968-3C>T rs2145878614
NM_001754.5(RUNX1):c.968-5T>G rs2145878646
NM_001754.5(RUNX1):c.968-7C>A rs1601334068
NM_001754.5(RUNX1):c.968-7C>T rs1601334068
NM_001754.5(RUNX1):c.968-8C>A rs2145878691
NM_001754.5(RUNX1):c.968-9G>A rs1374004810
NM_001754.5(RUNX1):c.968-9G>T
NM_001754.5(RUNX1):c.968C>A (p.Thr323Lys) rs1039736738
NM_001754.5(RUNX1):c.968C>G (p.Thr323Arg)
NM_001754.5(RUNX1):c.968C>T (p.Thr323Met) rs1039736738
NM_001754.5(RUNX1):c.968del (p.Thr323fs)
NM_001754.5(RUNX1):c.969G>A (p.Thr323=) rs768331461
NM_001754.5(RUNX1):c.969G>C (p.Thr323=) rs768331461
NM_001754.5(RUNX1):c.97+10A>C
NM_001754.5(RUNX1):c.97+10dup
NM_001754.5(RUNX1):c.97+12T>C
NM_001754.5(RUNX1):c.97+1G>T rs375131372
NM_001754.5(RUNX1):c.97+4T>C rs754042987
NM_001754.5(RUNX1):c.97+6T>G
NM_001754.5(RUNX1):c.975C>T (p.Pro325=)
NM_001754.5(RUNX1):c.976G>T (p.Asp326Tyr) rs1217420692
NM_001754.5(RUNX1):c.978C>A (p.Asp326Glu)
NM_001754.5(RUNX1):c.978C>G (p.Asp326Glu)
NM_001754.5(RUNX1):c.979C>G (p.Leu327Val) rs1157267880
NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)
NM_001754.5(RUNX1):c.97G>A (p.Asp33Asn) rs781761402
NM_001754.5(RUNX1):c.97G>T (p.Asp33Tyr) rs781761402
NM_001754.5(RUNX1):c.98-13C>T rs1472759880
NM_001754.5(RUNX1):c.98-1411_98-1410del rs377766157
NM_001754.5(RUNX1):c.98-1418dup rs377766157
NM_001754.5(RUNX1):c.98-148_98-147dup
NM_001754.5(RUNX1):c.98-155dup rs3833348
NM_001754.5(RUNX1):c.98-1560C>T
NM_001754.5(RUNX1):c.98-1G>A rs2058006300
NM_001754.5(RUNX1):c.98-20_98-18del rs1555899933
NM_001754.5(RUNX1):c.98-2A>G
NM_001754.5(RUNX1):c.98-3dup rs2146414668
NM_001754.5(RUNX1):c.983C>A (p.Thr328Lys)
NM_001754.5(RUNX1):c.986C>T (p.Ala329Val) rs1358657401
NM_001754.5(RUNX1):c.987G>A (p.Ala329=) rs1332206830
NM_001754.5(RUNX1):c.987G>C (p.Ala329=) rs1332206830
NM_001754.5(RUNX1):c.988T>G (p.Phe330Val)
NM_001754.5(RUNX1):c.991A>C (p.Ser331Arg) rs937059549
NM_001754.5(RUNX1):c.991A>G (p.Ser331Gly)
NM_001754.5(RUNX1):c.992G>C (p.Ser331Thr) rs2056461235
NM_001754.5(RUNX1):c.993C>A (p.Ser331Arg)
NM_001754.5(RUNX1):c.994G>T (p.Asp332Tyr)
NM_001754.5(RUNX1):c.996C>G (p.Asp332Glu)
NM_001754.5(RUNX1):c.996C>T (p.Asp332=) rs1170458993
NM_001754.5(RUNX1):c.997C>T (p.Pro333Ser)
NM_001754.5(RUNX1):c.998C>T (p.Pro333Leu) rs200104203
NM_001754.5(RUNX1):c.999G>A (p.Pro333=)
NM_001754.5(RUNX1):c.999G>C (p.Pro333=)
NM_001754.5(RUNX1):c.999G>T (p.Pro333=) rs956885198
NM_001754.5(RUNX1):c.999_1010dup (p.Arg334_Pro337dup) rs2145877966
NM_001754.5(RUNX1):c.999dup (p.Arg334fs) rs2145878129
NM_001754.5(RUNX1):c.99T>C (p.Asp33=) rs762090330
NM_001987.5(ETV6):c.1034T>G (p.Val345Gly) rs2136595350
NM_001987.5(ETV6):c.1063G>A (p.Glu355Lys)
NM_001987.5(ETV6):c.1076G>T (p.Arg359Leu)
NM_001987.5(ETV6):c.1085A>G (p.Asp362Gly) rs2136595925
NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp) rs1591749480
NM_001987.5(ETV6):c.1113_1120delinsCCCCCCAC (p.Asp372_Asn374delinsProProHis) rs2136596195
NM_001987.5(ETV6):c.1152+6del rs2136596612
NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys) rs724159945
NM_001987.5(ETV6):c.1196G>A (p.Arg399His) rs2136602321
NM_001987.5(ETV6):c.119C>T (p.Ala40Val)
NM_001987.5(ETV6):c.1235G>T (p.Gly412Val)
NM_001987.5(ETV6):c.1252A>G (p.Arg418Gly) rs786205226
NM_001987.5(ETV6):c.1253G>T (p.Arg418Met)
NM_001987.5(ETV6):c.1254-2A>C
NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)
NM_001987.5(ETV6):c.133del (p.Glu45fs)
NM_001987.5(ETV6):c.406C>G (p.Pro136Ala) rs1946587466
NM_001987.5(ETV6):c.41G>A (p.Arg14Gln)
NM_001987.5(ETV6):c.439A>T (p.Ile147Leu)
NM_001987.5(ETV6):c.446A>G (p.His149Arg)
NM_001987.5(ETV6):c.527T>C (p.Ile176Thr)
NM_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001987.5(ETV6):c.754C>T (p.His252Tyr)
NM_001987.5(ETV6):c.968C>G (p.Ser323Cys)
NM_001994.3(F13B):c.1079T>A (p.Val360Glu) rs2125068039
NM_001994.3(F13B):c.1106T>C (p.Leu369Pro) rs1655669695
NM_001994.3(F13B):c.1317C>T (p.Cys439=) rs149466650
NM_001994.3(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.3(F13B):c.1498del (p.Glu500fs) rs797044453
NM_001994.3(F13B):c.1520GAG[1] (p.Gly508del)
NM_001994.3(F13B):c.1556-13C>A rs149088047
NM_001994.3(F13B):c.1693G>A (p.Ala565Thr) rs2125062488
NM_001994.3(F13B):c.1731_1735del (p.Leu577fs)
NM_001994.3(F13B):c.1739-8_1739-6del rs556380704
NM_001994.3(F13B):c.1961C>T (p.Ser654Phe) rs561359007
NM_001994.3(F13B):c.431C>T (p.Pro144Leu) rs1558311941
NM_001994.3(F13B):c.521A>T (p.Asp174Val) rs2125072085
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) rs2125071982
NM_001994.3(F13B):c.625A>G (p.Thr209Ala) rs201594137
NM_001994.3(F13B):c.647T>A (p.Leu216Ter)
NM_001994.3(F13B):c.65-2del rs748297201
NM_001994.3(F13B):c.715T>C (p.Phe239Leu)
NM_001994.3(F13B):c.779G>T (p.Trp260Leu) rs2125071222
NM_001994.3(F13B):c.815A>G (p.Asn272Ser) rs1655688114
NM_001994.3(F13B):c.86A>T (p.His29Leu)
NM_001994.3(F13B):c.874T>G (p.Tyr292Asp) rs1247793701
NM_001994.3(F13B):c.881A>T (p.His294Leu) rs2125068412
NM_001994.3(F13B):c.889A>C (p.Ile297Leu) rs1655684285
NM_001994.3(F13B):c.96T>C (p.Asn32=) rs1655924673
NM_002113.3(CFHR1):c.208A>G (p.Ile70Val)
NM_002113.3(CFHR1):c.641T>A (p.Ile214Asn)
NM_002473.6(MYH9):c.5766-3del rs141686520
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002558.4(P2RX1):c.1053GCT[2] (p.Leu354del) rs587776702
NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter) rs312262697
NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)
NM_003647.3(DGKE):c.1A>T (p.Met1Leu) rs1906465563
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter) rs777787526
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.3(DGKE):c.447del (p.Lys150fs) rs1906529223
NM_003647.3(DGKE):c.472dup (p.Trp158fs) rs312262698
NM_003647.3(DGKE):c.486dup (p.Val163fs) rs312262699
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.888+40A>G rs1555599211
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys) rs749415630
NM_003647.3(DGKE):c.999G>A (p.Ala333=)
NM_003664.4(AP3B1):c.-126C>G rs760008097
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.*191C>G rs6864605
NM_003664.5(AP3B1):c.*380G>A rs911081557
NM_003664.5(AP3B1):c.*380G>C rs911081557
NM_003664.5(AP3B1):c.*552TAAA[1] rs886060767
NM_003664.5(AP3B1):c.*69dup rs886060769
NM_003664.5(AP3B1):c.-115G>A rs886060776
NM_003664.5(AP3B1):c.-83G>C rs774869942
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
NM_003664.5(AP3B1):c.1025T>C (p.Leu342Ser)
NM_003664.5(AP3B1):c.1026A>G (p.Leu342=)
NM_003664.5(AP3B1):c.1030C>A (p.Arg344Ser) rs753341973
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg) rs1744189442
NM_003664.5(AP3B1):c.1039A>G (p.Arg347Gly) rs774128940
NM_003664.5(AP3B1):c.1040+15T>G
NM_003664.5(AP3B1):c.1040+16A>T
NM_003664.5(AP3B1):c.1040+17T>G
NM_003664.5(AP3B1):c.1040+19T>C
NM_003664.5(AP3B1):c.1041-15T>A rs2112402058
NM_003664.5(AP3B1):c.1041-19A>G
NM_003664.5(AP3B1):c.1041-2A>G
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
NM_003664.5(AP3B1):c.1047G>A (p.Val349=)
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
NM_003664.5(AP3B1):c.105C>T (p.Gly35=)
NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)
NM_003664.5(AP3B1):c.107T>C (p.Leu36Pro)
NM_003664.5(AP3B1):c.1080G>A (p.Met360Ile)
NM_003664.5(AP3B1):c.1088A>G (p.Gln363Arg)
NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)
NM_003664.5(AP3B1):c.1095+17C>G
NM_003664.5(AP3B1):c.1095+20G>T
NM_003664.5(AP3B1):c.1095+7A>G
NM_003664.5(AP3B1):c.1095+9G>A
NM_003664.5(AP3B1):c.1096-16T>C
NM_003664.5(AP3B1):c.1096-7A>T rs2112401625
NM_003664.5(AP3B1):c.1096-9G>A
NM_003664.5(AP3B1):c.1098G>C (p.Gly366=)
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) rs1744118616
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
NM_003664.5(AP3B1):c.1111T>C (p.Tyr371His)
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu) rs2112401517
NM_003664.5(AP3B1):c.1125C>T (p.Phe375=)
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1143T>C (p.Asp381=)
NM_003664.5(AP3B1):c.1167+11T>C rs2112401362
NM_003664.5(AP3B1):c.1167+1_1167+2dup rs2112401395
NM_003664.5(AP3B1):c.1167+8T>C
NM_003664.5(AP3B1):c.1168-12_1168-8del
NM_003664.5(AP3B1):c.1168-4A>G
NM_003664.5(AP3B1):c.1168-7A>G rs780180977
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
NM_003664.5(AP3B1):c.1180A>G (p.Thr394Ala)
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val) rs1743584840
NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser) rs759936403
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
NM_003664.5(AP3B1):c.1219C>A (p.Arg407=) rs768390608
NM_003664.5(AP3B1):c.1230+10C>T rs1580431334
NM_003664.5(AP3B1):c.1230+12G>A
NM_003664.5(AP3B1):c.1230+13T>C
NM_003664.5(AP3B1):c.1230+6T>C
NM_003664.5(AP3B1):c.1230G>C (p.Gln410His) rs2112377230
NM_003664.5(AP3B1):c.1231-11A>G rs1743450274
NM_003664.5(AP3B1):c.1231-9A>G
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr) rs778910104
NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
NM_003664.5(AP3B1):c.128+20T>C
NM_003664.5(AP3B1):c.128+4A>G
NM_003664.5(AP3B1):c.128+8G>A
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=) rs954170484
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
NM_003664.5(AP3B1):c.129-14C>T rs904956491
NM_003664.5(AP3B1):c.129-14_129-10del rs982597895
NM_003664.5(AP3B1):c.129-14_129-12del
NM_003664.5(AP3B1):c.129-18del
NM_003664.5(AP3B1):c.129-18dup rs201281724
NM_003664.5(AP3B1):c.129-19T>C
NM_003664.5(AP3B1):c.129-1G>A
NM_003664.5(AP3B1):c.129-9_129-8del rs2112562563
NM_003664.5(AP3B1):c.1292G>A (p.Cys431Tyr) rs751127592
NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr) rs1289085829
NM_003664.5(AP3B1):c.1301A>G (p.Asn434Ser)
NM_003664.5(AP3B1):c.1302C>T (p.Asn434=)
NM_003664.5(AP3B1):c.1323G>A (p.Thr441=)
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
NM_003664.5(AP3B1):c.1347G>A (p.Leu449=)
NM_003664.5(AP3B1):c.1347G>C (p.Leu449=)
NM_003664.5(AP3B1):c.1350G>C (p.Leu450=)
NM_003664.5(AP3B1):c.1356C>T (p.Asn452=)
NM_003664.5(AP3B1):c.1363+10C>T rs2112370696
NM_003664.5(AP3B1):c.1363+1G>A
NM_003664.5(AP3B1):c.1364-15T>G
NM_003664.5(AP3B1):c.1364-2A>G rs2112357253
NM_003664.5(AP3B1):c.1364-4del rs1188997693
NM_003664.5(AP3B1):c.1367T>A (p.Ile456Lys)
NM_003664.5(AP3B1):c.1379A>T (p.Glu460Val)
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
NM_003664.5(AP3B1):c.1387GTT[1] (p.Val464del)
NM_003664.5(AP3B1):c.1390G>C (p.Val464Leu)
NM_003664.5(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.5(AP3B1):c.1395A>G (p.Ile465Met)
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu) rs556638927
NM_003664.5(AP3B1):c.1427A>T (p.His476Leu)
NM_003664.5(AP3B1):c.1435A>C (p.Ile479Leu) rs2112357067
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr) rs757746058
NM_003664.5(AP3B1):c.1438A>G (p.Ile480Val)
NM_003664.5(AP3B1):c.1452C>T (p.Ala484=)
NM_003664.5(AP3B1):c.1473+15A>C
NM_003664.5(AP3B1):c.1473+16G>A
NM_003664.5(AP3B1):c.1473+6T>C rs1000881595
NM_003664.5(AP3B1):c.1474-18A>T
NM_003664.5(AP3B1):c.1474-2A>G
NM_003664.5(AP3B1):c.1474-7072_1650+921del
NM_003664.5(AP3B1):c.1491A>G (p.Ala497=) rs2112327078
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
NM_003664.5(AP3B1):c.1509T>A (p.Ile503=) rs1480759584
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln) rs193920974
NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg) rs1753134356
NM_003664.5(AP3B1):c.1550T>C (p.Val517Ala) rs2112326945
NM_003664.5(AP3B1):c.1562T>C (p.Met521Thr)
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn) rs779511911
NM_003664.5(AP3B1):c.1584A>G (p.Glu528=)
NM_003664.5(AP3B1):c.1589A>G (p.Asp530Gly)
NM_003664.5(AP3B1):c.1596A>G (p.Val532=)
NM_003664.5(AP3B1):c.15T>C (p.Ser5=)
NM_003664.5(AP3B1):c.1605G>A (p.Gln535=) rs200769344
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
NM_003664.5(AP3B1):c.1650+12del rs563512609
NM_003664.5(AP3B1):c.1650+15T>A
NM_003664.5(AP3B1):c.1651-11T>C
NM_003664.5(AP3B1):c.1651-14dup rs1333771177
NM_003664.5(AP3B1):c.1651-1G>A
NM_003664.5(AP3B1):c.1651-2A>T
NM_003664.5(AP3B1):c.1651-9T>C rs2112301377
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile) rs770281960
NM_003664.5(AP3B1):c.1675T>C (p.Leu559=)
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His) rs1752591935
NM_003664.5(AP3B1):c.1707C>T (p.Asp569=)
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala) rs1580385068
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala) rs6453373
NM_003664.5(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)
NM_003664.5(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
NM_003664.5(AP3B1):c.1798G>C (p.Ala600Pro)
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser) rs149263390
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val) rs2112300913
NM_003664.5(AP3B1):c.1812A>G (p.Ala604=)
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn) rs1752586022
NM_003664.5(AP3B1):c.1837+2T>C rs2112300864
NM_003664.5(AP3B1):c.1837+7T>C
NM_003664.5(AP3B1):c.1838-13C>G
NM_003664.5(AP3B1):c.1838-16T>C
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA rs1290648194
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly) rs769757592
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg) rs2112298805
NM_003664.5(AP3B1):c.1868C>T (p.Ser623Phe) rs755372821
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala) rs199908785
NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)
NM_003664.5(AP3B1):c.1874C>T (p.Thr625Ile)
NM_003664.5(AP3B1):c.1878C>A (p.Leu626=)
NM_003664.5(AP3B1):c.1878C>T (p.Leu626=)
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile) rs1752538898
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)
NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
NM_003664.5(AP3B1):c.1932C>A (p.Pro644=)
NM_003664.5(AP3B1):c.1933G>A (p.Asp645Asn) rs797045241
NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu) rs755219130
NM_003664.5(AP3B1):c.1968+8del rs2112298486
NM_003664.5(AP3B1):c.1969-15T>C
NM_003664.5(AP3B1):c.1969-17T>C
NM_003664.5(AP3B1):c.1969-20T>A rs1394988514
NM_003664.5(AP3B1):c.1969-20T>C rs1394988514
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.1988C>T (p.Ala663Val) rs2112265534
NM_003664.5(AP3B1):c.2001G>A (p.Lys667=)
NM_003664.5(AP3B1):c.2009A>C (p.Asn670Thr) rs757825991
NM_003664.5(AP3B1):c.2009A>G (p.Asn670Ser)
NM_003664.5(AP3B1):c.2010T>C (p.Asn670=)
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.5(AP3B1):c.2015C>G (p.Ala672Gly) rs2112265444
NM_003664.5(AP3B1):c.201T>A (p.Val67=)
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys) rs759438615
NM_003664.5(AP3B1):c.2034A>G (p.Glu678=) rs766320781
NM_003664.5(AP3B1):c.204+13C>T
NM_003664.5(AP3B1):c.204+14T>A
NM_003664.5(AP3B1):c.205-10del
NM_003664.5(AP3B1):c.205-12T>C
NM_003664.5(AP3B1):c.205-20C>T
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
NM_003664.5(AP3B1):c.2077+18T>C
NM_003664.5(AP3B1):c.2078-11C>T
NM_003664.5(AP3B1):c.2078-14G>A
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
NM_003664.5(AP3B1):c.2088T>C (p.Ser696=) rs200618231
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=) rs35976098
NM_003664.5(AP3B1):c.211G>A (p.Ala71Thr)
NM_003664.5(AP3B1):c.2122_2123delinsTT (p.Glu708Leu) rs2112260341
NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu) rs777032367
NM_003664.5(AP3B1):c.2129G>C (p.Gly710Ala) rs777032367
NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val) rs777032367
NM_003664.5(AP3B1):c.2131G>A (p.Asp711Asn)
NM_003664.5(AP3B1):c.2138A>G (p.Asn713Ser)
NM_003664.5(AP3B1):c.213A>G (p.Ala71=)
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg) rs1365271615
NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)
NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys) rs2112260253
NM_003664.5(AP3B1):c.2166T>C (p.Ser722=)
NM_003664.5(AP3B1):c.2190G>A (p.Arg730=) rs2112260185
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
NM_003664.5(AP3B1):c.2202A>C (p.Leu734=)
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
NM_003664.5(AP3B1):c.2220C>T (p.Ala740=)
NM_003664.5(AP3B1):c.2250-6G>A
NM_003664.5(AP3B1):c.2257G>A (p.Glu753Lys)
NM_003664.5(AP3B1):c.2270A>G (p.Lys757Arg) rs745461947
NM_003664.5(AP3B1):c.2279A>G (p.Glu760Gly) rs2112252523
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)
NM_003664.5(AP3B1):c.2324T>C (p.Ile775Thr) rs62001050
NM_003664.5(AP3B1):c.2326G>A (p.Glu776Lys)
NM_003664.5(AP3B1):c.2331C>T (p.Asp777=)
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg) rs1334114879
NM_003664.5(AP3B1):c.2333G>A (p.Ser778Asn)
NM_003664.5(AP3B1):c.2336C>T (p.Ser779Phe)
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2353G>C (p.Glu785Gln)
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro) rs1747105618
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) rs2112518616
NM_003664.5(AP3B1):c.2382C>T (p.Ser794=) rs920648897
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile) rs770603726
NM_003664.5(AP3B1):c.2397+7del
NM_003664.5(AP3B1):c.2398-12G>A
NM_003664.5(AP3B1):c.2398-12del
NM_003664.5(AP3B1):c.2398-16A>G
NM_003664.5(AP3B1):c.2398-18A>G
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr) rs1028498771
NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)
NM_003664.5(AP3B1):c.2433T>C (p.Pro811=) rs2112233233
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val) rs1751097725
NM_003664.5(AP3B1):c.2454T>G (p.Leu818=)
NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)
NM_003664.5(AP3B1):c.2470+9dup
NM_003664.5(AP3B1):c.2471-16G>A rs760243722
NM_003664.5(AP3B1):c.2471-16G>C
NM_003664.5(AP3B1):c.2471-20A>G
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser) rs1580331287
NM_003664.5(AP3B1):c.2478A>G (p.Pro826=)
NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)
NM_003664.5(AP3B1):c.2492T>G (p.Val831Gly)
NM_003664.5(AP3B1):c.2513T>G (p.Leu838Arg)
NM_003664.5(AP3B1):c.2521A>G (p.Ser841Gly)
NM_003664.5(AP3B1):c.2531C>T (p.Ala844Val)
NM_003664.5(AP3B1):c.2542G>A (p.Gly848Ser)
NM_003664.5(AP3B1):c.2548C>A (p.His850Asn) rs201936976
NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)
NM_003664.5(AP3B1):c.2568A>G (p.Ser856=)
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
NM_003664.5(AP3B1):c.2577+9T>C
NM_003664.5(AP3B1):c.2578-7G>A
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)
NM_003664.5(AP3B1):c.2602A>G (p.Thr868Ala)
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met) rs1398038084
NM_003664.5(AP3B1):c.2604G>A (p.Thr868=)
NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)
NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)
NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)
NM_003664.5(AP3B1):c.2632A>G (p.Ser878Gly) rs2112100501
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2641G>C (p.Gly881Arg) rs2112100469
NM_003664.5(AP3B1):c.2656T>C (p.Tyr886His) rs2112100439
NM_003664.5(AP3B1):c.265A>G (p.Ser89Gly) rs748322548
NM_003664.5(AP3B1):c.2673G>A (p.Gln891=) rs770455413
NM_003664.5(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.5(AP3B1):c.2674C>A (p.Pro892Thr) rs2112100401
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile) rs1747942141
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) rs2112100310
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser) rs868369063
NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.5(AP3B1):c.2715A>G (p.Thr905=)
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile) rs1747940185
NM_003664.5(AP3B1):c.2730T>G (p.Thr910=)
NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
NM_003664.5(AP3B1):c.2738del (p.Lys913fs) rs2112100217
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
NM_003664.5(AP3B1):c.2757del (p.Ile919fs) rs2112100189
NM_003664.5(AP3B1):c.2759G>A (p.Gly920Glu)
NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.2769A>G (p.Lys923=) rs201179527
NM_003664.5(AP3B1):c.2772T>A (p.Leu924=)
NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp) rs866308304
NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr)
NM_003664.5(AP3B1):c.279+18A>G
NM_003664.5(AP3B1):c.279+19A>G rs756610617
NM_003664.5(AP3B1):c.279+9T>A
NM_003664.5(AP3B1):c.2793T>C (p.His931=) rs2112100041
NM_003664.5(AP3B1):c.2796T>C (p.Val932=)
NM_003664.5(AP3B1):c.280-14_280-13dup rs5868908
NM_003664.5(AP3B1):c.280-16G>T
NM_003664.5(AP3B1):c.280-2A>G
NM_003664.5(AP3B1):c.280-4_280-3insG
NM_003664.5(AP3B1):c.280-5A>T
NM_003664.5(AP3B1):c.280-6T>A
NM_003664.5(AP3B1):c.280-6del rs5868908
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.2801del (p.Asn934fs) rs2112100020
NM_003664.5(AP3B1):c.2806A>G (p.Ile936Val)
NM_003664.5(AP3B1):c.2809+15T>C
NM_003664.5(AP3B1):c.2809+20T>G rs2112099938
NM_003664.5(AP3B1):c.2809+8T>C
NM_003664.5(AP3B1):c.2810-10T>C
NM_003664.5(AP3B1):c.2810-7T>A rs1747713195
NM_003664.5(AP3B1):c.2810-9A>G
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2823T>C (p.Pro941=)
NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)
NM_003664.5(AP3B1):c.2844A>T (p.Ser948=)
NM_003664.5(AP3B1):c.2856C>T (p.Asp952=) rs912620993
NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)
NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg) rs2112091461
NM_003664.5(AP3B1):c.2894+10A>G
NM_003664.5(AP3B1):c.2894+1G>T
NM_003664.5(AP3B1):c.2894+6T>C
NM_003664.5(AP3B1):c.2895-12G>T
NM_003664.5(AP3B1):c.2895-16G>A
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
NM_003664.5(AP3B1):c.2899A>G (p.Lys967Glu)
NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys) rs1749672035
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)
NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser) rs1580247322
NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile) rs745653147
NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
NM_003664.5(AP3B1):c.2973A>G (p.Lys991=)
NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
NM_003664.5(AP3B1):c.2993-10_2993-7del
NM_003664.5(AP3B1):c.2993-12T>C
NM_003664.5(AP3B1):c.2993-14T>G
NM_003664.5(AP3B1):c.2993-3C>T rs1746824105
NM_003664.5(AP3B1):c.2993-5T>C
NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)
NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.3038C>T (p.Ala1013Val)
NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)
NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala) rs781365567
NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
NM_003664.5(AP3B1):c.3075G>A (p.Lys1025=)
NM_003664.5(AP3B1):c.3092A>G (p.Asn1031Ser)
NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly) rs1746480237
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.3117G>C (p.Gln1039His)
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His) rs764848036
NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=) rs1561354415
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg) rs2112054033
NM_003664.5(AP3B1):c.3131+18C>T
NM_003664.5(AP3B1):c.3131+19G>C rs769957838
NM_003664.5(AP3B1):c.3132-16C>T
NM_003664.5(AP3B1):c.3132-5T>C rs2112028477
NM_003664.5(AP3B1):c.3149_3150del (p.Val1050fs)
NM_003664.5(AP3B1):c.3159G>A (p.Gly1053=)
NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=) rs748447113
NM_003664.5(AP3B1):c.3171A>G (p.Leu1057=)
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=) rs751258161
NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)
NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)
NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=) rs1192574805
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala) rs137901104
NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro) rs2112607296
NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn) rs1746477844
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.375+11G>T
NM_003664.5(AP3B1):c.376-11A>C
NM_003664.5(AP3B1):c.376-13G>A rs1185982935
NM_003664.5(AP3B1):c.387A>T (p.Gln129His) rs1229682546
NM_003664.5(AP3B1):c.395G>C (p.Arg132Pro)
NM_003664.5(AP3B1):c.39A>G (p.Gly13=) rs1488407842
NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr) rs1270734050
NM_003664.5(AP3B1):c.415C>T (p.Leu139=)
NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup) rs759424724
NM_003664.5(AP3B1):c.439A>G (p.Ile147Val) rs2112494710
NM_003664.5(AP3B1):c.454A>C (p.Met152Leu) rs2112494693
NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
NM_003664.5(AP3B1):c.513C>G (p.Ala171=) rs2112494604
NM_003664.5(AP3B1):c.529T>C (p.Leu177=)
NM_003664.5(AP3B1):c.536+8C>A
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
NM_003664.5(AP3B1):c.544C>T (p.Pro182Ser)
NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
NM_003664.5(AP3B1):c.570A>G (p.Glu190=) rs2112491939
NM_003664.5(AP3B1):c.603+16T>G rs2112491852
NM_003664.5(AP3B1):c.604-12T>A
NM_003664.5(AP3B1):c.604-17A>G
NM_003664.5(AP3B1):c.624dup (p.Met209fs)
NM_003664.5(AP3B1):c.63T>C (p.Gly21=) rs776252237
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu) rs762212366
NM_003664.5(AP3B1):c.649G>A (p.Asp217Asn)
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu) rs1302695682
NM_003664.5(AP3B1):c.661C>T (p.Leu221=)
NM_003664.5(AP3B1):c.681C>G (p.Arg227=)
NM_003664.5(AP3B1):c.702G>T (p.Val234=) rs1745952689
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu) rs869312837
NM_003664.5(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.5(AP3B1):c.723G>A (p.Gln241=)
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
NM_003664.5(AP3B1):c.725T>C (p.Val242Ala) rs1580498432
NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr) rs753890496
NM_003664.5(AP3B1):c.738C>T (p.His246=) rs912124016
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile) rs2112607227
NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu) rs1260956613
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) rs1745947620
NM_003664.5(AP3B1):c.786+15G>A
NM_003664.5(AP3B1):c.786+1G>A
NM_003664.5(AP3B1):c.786+6T>A rs1332793203
NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser) rs1044368703
NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp) rs1744376789
NM_003664.5(AP3B1):c.798A>G (p.Leu266=)
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913
NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn) rs751922416
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val) rs1744372518
NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu) rs1437339620
NM_003664.5(AP3B1):c.84T>A (p.Ile28=)
NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
NM_003664.5(AP3B1):c.890A>G (p.His297Arg)
NM_003664.5(AP3B1):c.890A>T (p.His297Leu) rs1744369394
NM_003664.5(AP3B1):c.894A>G (p.Arg298=) rs1580453466
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys) rs1744368521
NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr) rs2112414100
NM_003664.5(AP3B1):c.915G>A (p.Lys305=) rs751927249
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser) rs1456578906
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
NM_003664.5(AP3B1):c.942+17A>T
NM_003664.5(AP3B1):c.942+1G>T
NM_003664.5(AP3B1):c.942+8A>G
NM_003664.5(AP3B1):c.943-9A>G rs776758618
NM_003664.5(AP3B1):c.943G>A (p.Val315Met)
NM_003664.5(AP3B1):c.944T>C (p.Val315Ala) rs1744194194
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile) rs1744194052
NM_003664.5(AP3B1):c.957T>G (p.Val319=) rs2112405584
NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
NM_003664.5(AP3B1):c.975C>T (p.His325=) rs2112405548
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu) rs2112405535
NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser) rs2112405528
NM_003664.5(AP3B1):c.999C>T (p.Gly333=)
NM_003745.2(SOCS1):c.368C>G (p.Pro123Arg) rs1244284678
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs) rs869312973
NM_004933.3(CDH15):c.955G>A (p.Glu319Lys)
NM_005141.5(FGB):c.*1204T>C rs1447745807
NM_005141.5(FGB):c.*1252A>C rs1730444171
NM_005141.5(FGB):c.*1409C>A rs886059144
NM_005141.5(FGB):c.*1544T>C rs886059147
NM_005141.5(FGB):c.*1639T>C rs1026178982
NM_005141.5(FGB):c.*1998A>G rs886059149
NM_005141.5(FGB):c.*277A>G rs1466304617
NM_005141.5(FGB):c.*361A>T rs886059143
NM_005141.5(FGB):c.*373G>A rs2227420
NM_005141.5(FGB):c.*496G>A rs557290052
NM_005141.5(FGB):c.*801A>G rs1578787077
NM_005141.5(FGB):c.*834del rs57313183
NM_005141.5(FGB):c.*835del rs768727295
NM_005141.5(FGB):c.*918C>G rs2227424
NM_005141.5(FGB):c.114+11del rs779228767
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg) rs121909621
NM_005141.5(FGB):c.1214T>G (p.Phe405Cys)
NM_005141.5(FGB):c.1244+1G>T rs606231224
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp) rs121909622
NM_005141.5(FGB):c.1292G>T (p.Gly431Val) rs779328318
NM_005141.5(FGB):c.1330G>A (p.Gly444Ser)
NM_005141.5(FGB):c.169C>T (p.Pro57Ser) rs971404907
NM_005141.5(FGB):c.210C>T (p.Gly70=) rs933834957
NM_005141.5(FGB):c.221G>T (p.Arg74Leu)
NM_005141.5(FGB):c.254T>C (p.Val85Ala) rs775809959
NM_005141.5(FGB):c.284G>A (p.Cys95Tyr) rs2110761933
NM_005141.5(FGB):c.419C>A (p.Thr140Asn)
NM_005141.5(FGB):c.490+1G>C rs111502670
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
NM_005141.5(FGB):c.506T>A (p.Val169Asp) rs2110768107
NM_005141.5(FGB):c.569A>G (p.Asn190Ser)
NM_005141.5(FGB):c.605T>A (p.Leu202Gln) rs121909624
NM_005141.5(FGB):c.679T>C (p.Cys227Arg) rs1578783532
NM_005141.5(FGB):c.691T>C (p.Cys231Arg) rs1730226269
NM_005141.5(FGB):c.811G>T (p.Asp271Tyr) rs913936601
NM_005141.5(FGB):c.946T>C (p.Cys316Arg)
NM_005141.5(FGB):c.958+13C>T rs606231223
NM_005141.5(FGB):c.959-13_959-10del rs140114081
NM_005141.5(FGB):c.974G>C (p.Gly325Ala) rs1578785111
NM_005570.4(LMAN1):c.*1164A>G rs2070737289
NM_005570.4(LMAN1):c.*1305A>G rs886054036
NM_005570.4(LMAN1):c.*1390T>C rs566011013
NM_005570.4(LMAN1):c.*1390T>G rs566011013
NM_005570.4(LMAN1):c.*1452_*1455del rs886054035
NM_005570.4(LMAN1):c.*1556C>G rs2070734881
NM_005570.4(LMAN1):c.*21T>G rs2298713
NM_005570.4(LMAN1):c.*2259A>T rs886054032
NM_005570.4(LMAN1):c.*2602G>T rs886054031
NM_005570.4(LMAN1):c.*2923C>T rs561819154
NM_005570.4(LMAN1):c.*860T>G rs41331148
NM_005570.4(LMAN1):c.1149+2T>C rs869312031
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) rs869312033
NM_005570.4(LMAN1):c.1357T>A (p.Leu453Ile)
NM_005570.4(LMAN1):c.1366C>T (p.Arg456Ter)
NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg) rs750667779
NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu) rs1010921896
NM_005570.4(LMAN1):c.15del (p.Arg5fs)
NM_005570.4(LMAN1):c.2T>C (p.Met1Thr) rs121909253
NM_005570.4(LMAN1):c.349C>T (p.Arg117Ter)
NM_005570.4(LMAN1):c.477+10T>C rs547944681
NM_005570.4(LMAN1):c.49_86dup (p.Gly30fs)
NM_005570.4(LMAN1):c.539+5GT[3] rs3835325
NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys) rs886054038
NM_005570.4(LMAN1):c.663A>G (p.Thr221=) rs368261071
NM_005570.4(LMAN1):c.796del (p.Gln266fs) rs869312032
NM_005570.4(LMAN1):c.822G>A (p.Pro274=)
NM_005570.4(LMAN1):c.89dup (p.Asp31fs) rs869312030
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter) rs183873209
NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)
NM_005666.4(CFHR2):c.213G>A (p.Thr71=)
NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr)
NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.1537T>A (p.Leu513Ile)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.236+1G>A rs1057519359
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)
NM_006580.4(CLDN16):c.152T>G (p.Val51Gly)
NM_007214.5(SEC63):c.1936-9del
NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser)
NM_007366.5(PLA2R1):c.874A>G (p.Met292Val)
NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)
NM_012388.4(BLOC1S6):c.*274TG[1] rs766946085
NM_012388.4(BLOC1S6):c.*2818ACAA[4] rs376870196
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_012388.4(BLOC1S6):c.101C>G (p.Pro34Arg)
NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu) rs1893910592
NM_012388.4(BLOC1S6):c.120G>A (p.Glu40=)
NM_012388.4(BLOC1S6):c.123C>T (p.Asp41=) rs2140904529
NM_012388.4(BLOC1S6):c.141A>G (p.Lys47=) rs2140904555
NM_012388.4(BLOC1S6):c.147G>A (p.Val49=)
NM_012388.4(BLOC1S6):c.148G>T (p.Glu50Ter)
NM_012388.4(BLOC1S6):c.14G>A (p.Gly5Glu) rs756977799
NM_012388.4(BLOC1S6):c.14G>T (p.Gly5Val) rs756977799
NM_012388.4(BLOC1S6):c.152A>G (p.Gln51Arg) rs1893913150
NM_012388.4(BLOC1S6):c.157G>A (p.Ala53Thr)
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
NM_012388.4(BLOC1S6):c.171T>C (p.Leu57=)
NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=) rs2140904620
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn) rs746059095
NM_012388.4(BLOC1S6):c.196A>G (p.Arg66Gly) rs1595552977
NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=) rs1329457663
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu) rs775671194
NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)
NM_012388.4(BLOC1S6):c.21G>A (p.Ser7=)
NM_012388.4(BLOC1S6):c.224+10T>C
NM_012388.4(BLOC1S6):c.224+15A>C
NM_012388.4(BLOC1S6):c.224+16dup
NM_012388.4(BLOC1S6):c.224+17C>T
NM_012388.4(BLOC1S6):c.224+18C>A rs2140904710
NM_012388.4(BLOC1S6):c.224+18C>G
NM_012388.4(BLOC1S6):c.224+20G>C
NM_012388.4(BLOC1S6):c.225-13G>A rs1010778337
NM_012388.4(BLOC1S6):c.225-14_225-13insA rs1894325968
NM_012388.4(BLOC1S6):c.225-16T>C
NM_012388.4(BLOC1S6):c.225-17G>A
NM_012388.4(BLOC1S6):c.225-19C>T
NM_012388.4(BLOC1S6):c.225-4dup
NM_012388.4(BLOC1S6):c.240A>G (p.Val80=)
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)
NM_012388.4(BLOC1S6):c.253C>T (p.Leu85=)
NM_012388.4(BLOC1S6):c.255G>A (p.Leu85=)
NM_012388.4(BLOC1S6):c.257A>G (p.Glu86Gly) rs2140916217
NM_012388.4(BLOC1S6):c.25C>T (p.Pro9Ser) rs1442888203
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
NM_012388.4(BLOC1S6):c.269C>T (p.Ser90Leu) rs1894328541
NM_012388.4(BLOC1S6):c.285_286dup (p.His96fs)
NM_012388.4(BLOC1S6):c.286C>T (p.His96Tyr) rs1595559213
NM_012388.4(BLOC1S6):c.289T>C (p.Ser97Pro) rs1274935670
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
NM_012388.4(BLOC1S6):c.309T>C (p.Ala103=)
NM_012388.4(BLOC1S6):c.312+17T>A
NM_012388.4(BLOC1S6):c.312+1G>T
NM_012388.4(BLOC1S6):c.312+7A>G
NM_012388.4(BLOC1S6):c.313-11dup
NM_012388.4(BLOC1S6):c.313-17T>G
NM_012388.4(BLOC1S6):c.313-1G>A
NM_012388.4(BLOC1S6):c.313-3A>T rs1366252583
NM_012388.4(BLOC1S6):c.313-7T>C
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.327A>G (p.Lys109=) rs2140918976
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln) rs370118149
NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.33G>A (p.Gly11=)
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
NM_012388.4(BLOC1S6):c.343T>C (p.Leu115=) rs2140919014
NM_012388.4(BLOC1S6):c.350A>T (p.Asn117Ile) rs1230644464
NM_012388.4(BLOC1S6):c.351dup (p.Ile118fs)
NM_012388.4(BLOC1S6):c.358A>C (p.Lys120Gln) rs2140919031
NM_012388.4(BLOC1S6):c.359_360del (p.Lys120fs)
NM_012388.4(BLOC1S6):c.367C>T (p.Leu123=)
NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=) rs1426071548
NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)
NM_012388.4(BLOC1S6):c.384A>G (p.Lys128=)
NM_012388.4(BLOC1S6):c.387A>G (p.Thr129=) rs1188577933
NM_012388.4(BLOC1S6):c.390A>G (p.Ser130=)
NM_012388.4(BLOC1S6):c.399+10A>G
NM_012388.4(BLOC1S6):c.399+13T>A
NM_012388.4(BLOC1S6):c.399+14T>G rs2140919137
NM_012388.4(BLOC1S6):c.399+18dup
NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)
NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile) rs1242644356
NM_012388.4(BLOC1S6):c.400-13T>C
NM_012388.4(BLOC1S6):c.400-16T>A
NM_012388.4(BLOC1S6):c.400-17T>A
NM_012388.4(BLOC1S6):c.400-5C>T
NM_012388.4(BLOC1S6):c.400-6A>C
NM_012388.4(BLOC1S6):c.400-6dup rs1255019451
NM_012388.4(BLOC1S6):c.400-7A>G
NM_012388.4(BLOC1S6):c.400-8del
NM_012388.4(BLOC1S6):c.400-8dup rs373061008
NM_012388.4(BLOC1S6):c.408A>G (p.Ala136=)
NM_012388.4(BLOC1S6):c.408A>T (p.Ala136=) rs765691244
NM_012388.4(BLOC1S6):c.417G>A (p.Leu139=)
NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu) rs1894463062
NM_012388.4(BLOC1S6):c.434A>G (p.Lys145Arg) rs1894463182
NM_012388.4(BLOC1S6):c.43C>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp) rs141581736
NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)
NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)
NM_012388.4(BLOC1S6):c.469G>A (p.Glu157Lys) rs1253763397
NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs) rs1350528661
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser) rs775510569
NM_012388.4(BLOC1S6):c.503C>T (p.Pro168Leu)
NM_012388.4(BLOC1S6):c.507C>T (p.Ala169=)
NM_012388.4(BLOC1S6):c.51C>T (p.Pro17=)
NM_012388.4(BLOC1S6):c.63G>A (p.Glu21=)
NM_012388.4(BLOC1S6):c.66C>T (p.Ala22=)
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
NM_012388.4(BLOC1S6):c.69G>C (p.Gly23=)
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
NM_012388.4(BLOC1S6):c.82+11T>C
NM_012388.4(BLOC1S6):c.82+12C>G
NM_012388.4(BLOC1S6):c.82+12C>T rs763484836
NM_012388.4(BLOC1S6):c.82+14G>T
NM_012388.4(BLOC1S6):c.82+17G>A
NM_012388.4(BLOC1S6):c.82+1G>A
NM_012388.4(BLOC1S6):c.82+1G>T
NM_012388.4(BLOC1S6):c.82+1_82+8del
NM_012388.4(BLOC1S6):c.82+4C>G
NM_012388.4(BLOC1S6):c.82+9_82+12del
NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)
NM_012388.4(BLOC1S6):c.83-1G>A
NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) rs1694866812
NM_019616.4(F7):c.*1057C>T rs141219406
NM_019616.4(F7):c.*1073A>T rs2036277962
NM_019616.4(F7):c.*1077del rs886050000
NM_019616.4(F7):c.*1240C>G rs3093256
NM_019616.4(F7):c.*1364G>A rs1019352949
NM_019616.4(F7):c.*1500_*1503del rs539395699
NM_019616.4(F7):c.*294A>C rs886049989
NM_019616.4(F7):c.*425C>T rs886049990
NM_019616.4(F7):c.*561AT[1] rs886049992
NM_019616.4(F7):c.*628_*630del rs747160994
NM_019616.4(F7):c.*664G>A rs150239572
NM_019616.4(F7):c.*672CA[3] rs886049995
NM_019616.4(F7):c.*703AC[3] rs3093252
NM_019616.4(F7):c.*756_*770delinsCCA rs886049997
NM_019616.4(F7):c.*82T>C rs368359845
NM_019616.4(F7):c.*846CTTCA[1] rs886049998
NM_019616.4(F7):c.-48C>A rs549591993
NM_019616.4(F7):c.1008G>A (p.Met336Ile)
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr)
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1051C>T (p.Gln351Ter)
NM_019616.4(F7):c.1058G>A (p.Arg353Gln)
NM_019616.4(F7):c.1093A>G (p.Met365Val)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1145G>A (p.Ser382Asn)
NM_019616.4(F7):c.1157A>G (p.His386Arg)
NM_019616.4(F7):c.1174G>T (p.Gly392Cys)
NM_019616.4(F7):c.1190C>T (p.Thr397Met)
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.1216T>C (p.Cys406Arg)
NM_019616.4(F7):c.1221A>G (p.Ala407=) rs763731383
NM_019616.4(F7):c.1247C>T (p.Thr416Ile) rs2142234668
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) rs1293477494
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) rs2142234775
NM_019616.4(F7):c.1292C>T (p.Ser431Leu) rs1490539322
NM_019616.4(F7):c.1318C>T (p.Arg440Ter)
NM_019616.4(F7):c.1319G>T (p.Arg440Leu) rs372452455
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.145G>C (p.Gly49Arg) rs376384665
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.154dup (p.Glu52fs)
NM_019616.4(F7):c.169G>C (p.Glu57Gln)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.178T>C (p.Cys60Arg)
NM_019616.4(F7):c.187G>A (p.Glu63Lys)
NM_019616.4(F7):c.196C>G (p.Arg66Gly)
NM_019616.4(F7):c.196C>T (p.Arg66Trp)
NM_019616.4(F7):c.213C>G (p.Asp71Glu) rs761662200
NM_019616.4(F7):c.220A>G (p.Arg74Gly) rs2142212748
NM_019616.4(F7):c.224C>T (p.Thr75Met)
NM_019616.4(F7):c.225+1G>C rs1566906827
NM_019616.4(F7):c.283A>G (p.Asn95Asp) rs121964932
NM_019616.4(F7):c.290G>A (p.Gly97Asp)
NM_019616.4(F7):c.297C>A (p.Cys99Ter)
NM_019616.4(F7):c.364+14T>G
NM_019616.4(F7):c.364+1G>C rs1056071555
NM_019616.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_019616.4(F7):c.391A>C (p.Asn131His) rs2142224544
NM_019616.4(F7):c.394G>T (p.Glu132Ter) rs146795869
NM_019616.4(F7):c.408T>G (p.Cys136Trp) rs2142224651
NM_019616.4(F7):c.442C>T (p.Arg148Cys)
NM_019616.4(F7):c.445T>C (p.Ser149Pro)
NM_019616.4(F7):c.483C>A (p.Asp161Glu) rs6040
NM_019616.4(F7):c.499C>T (p.Pro167Ser) rs1479693459
NM_019616.4(F7):c.562C>T (p.Gln188Ter) rs267606790
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_019616.4(F7):c.581G>A (p.Gly194Asp)
NM_019616.4(F7):c.605G>A (p.Cys202Tyr)
NM_019616.4(F7):c.616-11C>A rs750680622
NM_019616.4(F7):c.616-7C>A rs751971986
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.64+937C>T
NM_019616.4(F7):c.647G>A (p.Cys216Tyr) rs121964928
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.64G>A (p.Val22Ile)
NM_019616.4(F7):c.675G>T (p.Trp225Cys)
NM_019616.4(F7):c.686C>T (p.Ala229Val)
NM_019616.4(F7):c.694T>C (p.Cys232Arg)
NM_019616.4(F7):c.737T>C (p.Leu246Pro) rs2142229513
NM_019616.4(F7):c.739+1G>A
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.739+7_739+43del rs1309684522
NM_019616.4(F7):c.740-329G>A
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.80del (p.Glu27fs)
NM_019616.4(F7):c.84A>C (p.Glu28Asp) rs2142212240
NM_019616.4(F7):c.857T>C (p.Leu286Pro) rs2142232799
NM_019616.4(F7):c.867_868insCA (p.Val290fs)
NM_019616.4(F7):c.86C>A (p.Ala29Asp) rs2036074360
NM_019616.4(F7):c.871del (p.Val291fs) rs2142232898
NM_019616.4(F7):c.893C>T (p.Pro298Leu)
NM_019616.4(F7):c.895C>T (p.Leu299Phe)
NM_019616.4(F7):c.907G>A (p.Glu303Lys)
NM_019616.4(F7):c.917T>C (p.Phe306Ser) rs387906508
NM_019616.4(F7):c.974del (p.Leu325fs)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]
NM_021023.6(CFHR3):c.534A>T (p.Gly178=)
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_021023.6(CFHR3):c.952_953insGGAA (p.Val318fs)
NM_021870.2(FGG):c.1007T>C (p.Met336Thr) rs121913091
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1006A>T (p.Met336Leu)
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519
NM_021870.3(FGG):c.1030G>C (p.Asp344His)
NM_021870.3(FGG):c.1037A>G (p.Asp346Gly)
NM_021870.3(FGG):c.1067A>G (p.Asp356Gly)
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile) rs1731071910
NM_021870.3(FGG):c.1202G>A (p.Arg401Gln) rs2110838894
NM_021870.3(FGG):c.1210T>C (p.Ser404Pro) rs587777720
NM_021870.3(FGG):c.1237A>G (p.Ile413Val) rs886059154
NM_021870.3(FGG):c.124-2A>G
NM_021870.3(FGG):c.1242del (p.Phe415fs)
NM_021870.3(FGG):c.1300G>T (p.Val434Phe)
NM_021870.3(FGG):c.207_208dup (p.Glu70fs) rs2110850824
NM_021870.3(FGG):c.307+5G>A rs587776838
NM_021870.3(FGG):c.331A>T (p.Lys111Ter) rs1578812509
NM_021870.3(FGG):c.401G>A (p.Arg134Gln) rs764559342
NM_021870.3(FGG):c.606G>C (p.Gln202His) rs2110846559
NM_021870.3(FGG):c.666+23T>A rs1578810856
NM_021870.3(FGG):c.667-320A>T rs587776839
NM_021870.3(FGG):c.694A>G (p.Lys232Glu) rs2110844685
NM_021870.3(FGG):c.700T>C (p.Trp234Arg) rs2110844651
NM_021870.3(FGG):c.702G>T (p.Trp234Cys)
NM_021870.3(FGG):c.78+5G>A rs587776837
NM_021870.3(FGG):c.793C>T (p.Gln265Ter) rs771279321
NM_021871.4(FGA):c.*133G>A rs182736373
NM_021871.4(FGA):c.100G>A (p.Val34Met)
NM_021871.4(FGA):c.103C>G (p.Arg35Gly) rs121909606
NM_021871.4(FGA):c.1055del (p.Pro352fs) rs1299596156
NM_021871.4(FGA):c.1099C>T (p.Arg367Cys)
NM_021871.4(FGA):c.1102G>A (p.Gly368Arg)
NM_021871.4(FGA):c.1103G>A (p.Gly368Glu)
NM_021871.4(FGA):c.1106G>A (p.Ser369Asn)
NM_021871.4(FGA):c.1117T>C (p.Trp373Arg)
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
NM_021871.4(FGA):c.1169C>A (p.Ser390Tyr)
NM_021871.4(FGA):c.117del (p.Val40fs) rs762964798
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr) rs1730710209
NM_021871.4(FGA):c.122A>T (p.Glu41Val)
NM_021871.4(FGA):c.1247T>C (p.Val416Ala)
NM_021871.4(FGA):c.124A>G (p.Arg42Gly)
NM_021871.4(FGA):c.1339G>C (p.Glu447Gln)
NM_021871.4(FGA):c.1339del (p.Glu447fs)
NM_021871.4(FGA):c.1367C>T (p.Thr456Ile)
NM_021871.4(FGA):c.1419T>A (p.Asp473Glu)
NM_021871.4(FGA):c.1426A>G (p.Lys476Glu)
NM_021871.4(FGA):c.1452del (p.Ser485fs)
NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr) rs2110809573
NM_021871.4(FGA):c.14G>A (p.Arg5Lys)
NM_021871.4(FGA):c.1517del (p.Leu506fs)
NM_021871.4(FGA):c.1529G>A (p.Arg510His)
NM_021871.4(FGA):c.1541del (p.Pro514fs)
NM_021871.4(FGA):c.1553C>G (p.Ala518Gly)
NM_021871.4(FGA):c.1603C>T (p.Pro535Ser)
NM_021871.4(FGA):c.1631C>T (p.Thr544Ile)
NM_021871.4(FGA):c.1633G>A (p.Glu545Lys)
NM_021871.4(FGA):c.1643G>A (p.Gly548Asp)
NM_021871.4(FGA):c.164G>C (p.Cys55Ser)
NM_021871.4(FGA):c.1670C>G (p.Thr557Arg)
NM_021871.4(FGA):c.1673A>G (p.Lys558Arg)
NM_021871.4(FGA):c.1717C>G (p.Arg573Gly)
NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)
NM_021871.4(FGA):c.1754del (p.Ser585fs)
NM_021871.4(FGA):c.1784C>T (p.Thr595Ile)
NM_021871.4(FGA):c.180G>A (p.Trp60Ter)
NM_021871.4(FGA):c.1827T>A (p.Ser609Arg)
NM_021871.4(FGA):c.1832C>T (p.Ala611Val)
NM_021871.4(FGA):c.1858A>G (p.Lys620Glu)
NM_021871.4(FGA):c.1868A>G (p.His623Arg)
NM_021871.4(FGA):c.1875A>C (p.Lys625Asn)
NM_021871.4(FGA):c.1925T>C (p.Leu642Pro)
NM_021871.4(FGA):c.1930C>G (p.Pro644Ala) rs1730682953
NM_021871.4(FGA):c.19G>A (p.Val7Ile)
NM_021871.4(FGA):c.214G>C (p.Gly72Arg)
NM_021871.4(FGA):c.23G>C (p.Cys8Ser)
NM_021871.4(FGA):c.248A>G (p.Asn83Ser)
NM_021871.4(FGA):c.294_296del (p.Asn99del)
NM_021871.4(FGA):c.295A>G (p.Asn99Asp)
NM_021871.4(FGA):c.364+5G>A rs891744509
NM_021871.4(FGA):c.40G>A (p.Val14Met)
NM_021871.4(FGA):c.40G>T (p.Val14Leu)
NM_021871.4(FGA):c.428G>A (p.Arg143His)
NM_021871.4(FGA):c.431_432del (p.Lys144fs) rs934668242
NM_021871.4(FGA):c.448C>T (p.Gln150Ter) rs763715993
NM_021871.4(FGA):c.473dup (p.Asn158fs)
NM_021871.4(FGA):c.510+13C>T
NM_021871.4(FGA):c.531C>G (p.Ile177Met)
NM_021871.4(FGA):c.533G>A (p.Arg178Gln)
NM_021871.4(FGA):c.541C>T (p.Arg181Ter)
NM_021871.4(FGA):c.569G>A (p.Arg190His)
NM_021871.4(FGA):c.607C>T (p.Gln203Ter)
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) rs886059152
NM_021871.4(FGA):c.645T>C (p.Ser215=)
NM_021871.4(FGA):c.648A>G (p.Arg216=)
NM_021871.4(FGA):c.666A>T (p.Pro222=) rs886059151
NM_021871.4(FGA):c.688C>T (p.Pro230Ser)
NM_021871.4(FGA):c.696G>T (p.Leu232Phe)
NM_021871.4(FGA):c.711dup (p.Lys238Ter) rs606231225
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_021871.4(FGA):c.761T>C (p.Met254Thr)
NM_021871.4(FGA):c.784G>A (p.Glu262Lys)
NM_021871.4(FGA):c.804G>A (p.Glu268=)
NM_021871.4(FGA):c.811C>T (p.Arg271Ter) rs1578796476
NM_021871.4(FGA):c.829T>C (p.Tyr277His) rs1473392017
NM_021871.4(FGA):c.838G>A (p.Gly280Arg)
NM_021871.4(FGA):c.84A>T (p.Leu28=)
NM_021871.4(FGA):c.856C>G (p.Pro286Ala)
NM_021871.4(FGA):c.873T>G (p.Ser291Arg)
NM_021871.4(FGA):c.896G>A (p.Ser299Asn)
NM_021871.4(FGA):c.908G>A (p.Gly303Glu)
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021871.4(FGA):c.974G>A (p.Ser325Asn)
NM_021871.4(FGA):c.97G>A (p.Gly33Ser)
NM_021871.4(FGA):c.99C>T (p.Gly33=)
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.6(HPS4):c.*1024_*1028del rs886057313
NM_022081.6(HPS4):c.*1120C>T rs886057312
NM_022081.6(HPS4):c.*1191TG[16] rs134978
NM_022081.6(HPS4):c.*1191TG[17] rs134978
NM_022081.6(HPS4):c.*1191TG[20] rs134978
NM_022081.6(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.6(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.6(HPS4):c.*1223_*1238del rs886057303
NM_022081.6(HPS4):c.*1227_*1236del rs755364858
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.*1229CG[5] rs10573454
NM_022081.6(HPS4):c.*1229CG[6] rs10573454
NM_022081.6(HPS4):c.*1229CG[7] rs10573454
NM_022081.6(HPS4):c.*1229CG[8] rs10573454
NM_022081.6(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_022081.6(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.6(HPS4):c.*1752C>G rs886057295
NM_022081.6(HPS4):c.*333C>T rs2085445155
NM_022081.6(HPS4):c.*515G>C rs886057314
NM_022081.6(HPS4):c.-116C>T rs886057321
NM_022081.6(HPS4):c.-281A>G rs1028325475
NM_022081.6(HPS4):c.-312C>T rs2091338704
NM_022081.6(HPS4):c.-317G>A rs2091338920
NM_022081.6(HPS4):c.1015G>A (p.Ala339Thr)
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs) rs773968140
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022081.6(HPS4):c.1156del (p.His386fs)
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) rs2091003499
NM_022081.6(HPS4):c.132+1G>A
NM_022081.6(HPS4):c.132+1dup
NM_022081.6(HPS4):c.133-1G>A
NM_022081.6(HPS4):c.133-2A>G
NM_022081.6(HPS4):c.133-2A>T
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)
NM_022081.6(HPS4):c.1361_1362del (p.Pro454fs)
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly)
NM_022081.6(HPS4):c.1713+1G>A rs2146534178
NM_022081.6(HPS4):c.1714-1G>T
NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs)
NM_022081.6(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.6(HPS4):c.1847-1G>A
NM_022081.6(HPS4):c.1849_1850del (p.Asn617fs)
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs) rs752827715
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)
NM_022081.6(HPS4):c.272T>C (p.Leu91Pro) rs2146925564
NM_022081.6(HPS4):c.276+5G>A rs1602079277
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)
NM_022081.6(HPS4):c.32C>G (p.Ser11Ter)
NM_022081.6(HPS4):c.348dup (p.Asn117Ter)
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)
NM_022081.6(HPS4):c.41+1_41+3del
NM_022081.6(HPS4):c.41+1_41+7del
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.6(HPS4):c.412del (p.Glu138fs)
NM_022081.6(HPS4):c.42-2A>C
NM_022081.6(HPS4):c.42-2A>G
NM_022081.6(HPS4):c.430G>T (p.Glu144Ter)
NM_022081.6(HPS4):c.446del (p.Asn149fs)
NM_022081.6(HPS4):c.44G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.502-1G>A rs2146757484
NM_022081.6(HPS4):c.502-1G>T
NM_022081.6(HPS4):c.502-2A>T
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
NM_022081.6(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.6(HPS4):c.669+1G>A
NM_022081.6(HPS4):c.673_686del
NM_022081.6(HPS4):c.706+10G>A rs2088578226
NM_022081.6(HPS4):c.706+119T>C
NM_022081.6(HPS4):c.706+15G>T rs762647750
NM_022081.6(HPS4):c.727G>A (p.Val243Ile) rs749572804
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)
NM_022081.6(HPS4):c.803+1G>A
NM_022081.6(HPS4):c.834_865del (p.Asp278fs)
NM_022081.6(HPS4):c.838_842del (p.Ser280fs)
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)
NM_022081.6(HPS4):c.904G>T (p.Glu302Ter)
NM_022081.6(HPS4):c.90_91insCCTT (p.Asp31delinsProTer)
NM_022788.5(P2RY12):c.160C>T (p.Arg54Trp)
NM_022788.5(P2RY12):c.469_470del (p.Leu157fs)
NM_022788.5(P2RY12):c.662dup (p.Arg222fs)
NM_022788.5(P2RY12):c.717_718del (p.Ile240fs) rs1560045738
NM_024006.6(VKORC1):c.*10C>G rs2057286230
NM_024006.6(VKORC1):c.*172T>A rs2057284100
NM_024006.6(VKORC1):c.-45G>A rs759852599
NM_024006.6(VKORC1):c.117C>T (p.Tyr39=) rs2057315206
NM_024006.6(VKORC1):c.342C>G (p.Leu114=) rs2057287810
NM_024006.6(VKORC1):c.36G>A (p.Arg12=) rs55894764
NM_024006.6(VKORC1):c.447T>C (p.Ser149=) rs2057286672
NM_024006.6(VKORC1):c.54G>T (p.Thr18=) rs771891906
NM_024420.3(PLA2G4A):c.1454G>A (p.Arg485His) rs121434635
NM_024420.3(PLA2G4A):c.1723G>C (p.Asp575His) rs1557895416
NM_024420.3(PLA2G4A):c.2118+4_2118+7del rs1557901999
NM_024420.3(PLA2G4A):c.331T>C (p.Ser111Pro) rs121434634
NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs) rs1571392612
NM_024420.3(PLA2G4A):c.607del (p.Val203fs)
NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter) rs2067971306
NM_024747.6(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs) rs281865111
NM_024747.6(HPS6):c.1086del (p.Met363fs)
NM_024747.6(HPS6):c.1127G>A (p.Arg376His) rs1270858817
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.6(HPS6):c.1228_1252del (p.Tyr410fs) rs760452661
NM_024747.6(HPS6):c.1241G>A (p.Arg414Gln)
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val) rs201468546
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)
NM_024747.6(HPS6):c.1270GAA[1] (p.Glu425del)
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)
NM_024747.6(HPS6):c.1360A>G (p.Met454Val) rs769401035
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.6(HPS6):c.1612dup (p.Gln538fs)
NM_024747.6(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.6(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.6(HPS6):c.1674del (p.Asn559fs)
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val) rs765206943
NM_024747.6(HPS6):c.1692C>A (p.Pro564=) rs147449083
NM_024747.6(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) rs940319528
NM_024747.6(HPS6):c.1784G>A (p.Trp595Ter)
NM_024747.6(HPS6):c.1789del (p.Ala597fs)
NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.6(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
NM_024747.6(HPS6):c.1942C>T (p.Gln648Ter)
NM_024747.6(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.6(HPS6):c.19_20del (p.Leu7fs) rs1590262288
NM_024747.6(HPS6):c.1A>T (p.Met1Leu)
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs) rs2136333791
NM_024747.6(HPS6):c.229_232del (p.Ser77fs) rs2136333814
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu) rs544314793
NM_024747.6(HPS6):c.27del (p.Leu10fs)
NM_024747.6(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.6(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.6(HPS6):c.327del (p.Pro110fs)
NM_024747.6(HPS6):c.32C>A (p.Ser11Ter)
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) rs2067964057
NM_024747.6(HPS6):c.368del (p.Gly123fs)
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp) rs766916912
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024747.6(HPS6):c.452del (p.Pro151fs)
NM_024747.6(HPS6):c.455C>G (p.Ser152Ter)
NM_024747.6(HPS6):c.560dup (p.His187fs)
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) rs752399257
NM_024747.6(HPS6):c.706_707del (p.Ser236fs) rs756471925
NM_024747.6(HPS6):c.732A>G (p.Gly244=) rs756521666
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter) rs2136334244
NM_024747.6(HPS6):c.769G>A (p.Gly257Ser)
NM_024747.6(HPS6):c.7C>T (p.Arg3Cys) rs975351475
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.6(HPS6):c.877C>T (p.Gln293Ter)
NM_024747.6(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_025265.4(TSEN2):c.1100-5T>A
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)
NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile) rs147488267
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)
NM_032122.5(DTNBP1):c.*151_*152dup rs555440397
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.111-2A>G
NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
NM_032122.5(DTNBP1):c.489-12_489-8del rs199770715
NM_032122.5(DTNBP1):c.489-8del rs199770715
NM_032122.5(DTNBP1):c.489-8dup rs199770715
NM_032122.5(DTNBP1):c.668-14del rs886061225
NM_032122.5(DTNBP1):c.79_83del (p.Ser27fs) rs757126788
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter) rs2127784434
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*138A>T rs1049481742
NM_032383.5(HPS3):c.*207C>T rs1725097839
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97CA[16] rs113015797
NM_032383.5(HPS3):c.*97CA[17] rs113015797
NM_032383.5(HPS3):c.*97CA[20] rs113015797
NM_032383.5(HPS3):c.*97CA[21] rs113015797
NM_032383.5(HPS3):c.*97CA[22] rs113015797
NM_032383.5(HPS3):c.*97CA[23] rs113015797
NM_032383.5(HPS3):c.*97CA[25] rs113015797
NM_032383.5(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1055del (p.Gly352fs)
NM_032383.5(HPS3):c.1058_1059del (p.Tyr353fs)
NM_032383.5(HPS3):c.10C>T (p.Leu4=) rs1343390851
NM_032383.5(HPS3):c.1102C>T (p.Gln368Ter)
NM_032383.5(HPS3):c.1107_1119delinsC (p.Pro370_Ser373del)
NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)
NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)
NM_032383.5(HPS3):c.1128A>G (p.Ala376=) rs1722738295
NM_032383.5(HPS3):c.1150_1153del (p.His384fs)
NM_032383.5(HPS3):c.1151A>C (p.His384Pro)
NM_032383.5(HPS3):c.1153_1160del (p.Val385fs)
NM_032383.5(HPS3):c.1154del (p.Val385fs)
NM_032383.5(HPS3):c.1175del (p.Gln392fs)
NM_032383.5(HPS3):c.1179T>A (p.Cys393Ter)
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1200G>C (p.Ala400=) rs377368442
NM_032383.5(HPS3):c.1231dup (p.Asp411fs)
NM_032383.5(HPS3):c.1246-2A>T rs1282659169
NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs)
NM_032383.5(HPS3):c.1246dup
NM_032383.5(HPS3):c.1249del (p.Cys417fs)
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.1275T>A (p.Cys425Ter)
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
NM_032383.5(HPS3):c.1330del (p.His444fs)
NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter) rs1330496818
NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)
NM_032383.5(HPS3):c.148G>T (p.Glu50Ter)
NM_032383.5(HPS3):c.1500C>A (p.Tyr500Ter)
NM_032383.5(HPS3):c.1509+1G>A rs746906314
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer) rs756611897
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_032383.5(HPS3):c.157del (p.Gln53fs)
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.1627G>T (p.Glu543Ter)
NM_032383.5(HPS3):c.1631del (p.Lys544fs)
NM_032383.5(HPS3):c.1660del (p.Ser554fs)
NM_032383.5(HPS3):c.1678del (p.Asp560fs)
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) rs778152054
NM_032383.5(HPS3):c.1685_1686delinsT (p.Tyr562fs)
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter) rs1292407171
NM_032383.5(HPS3):c.1691+1G>T
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) rs1576687466
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys) rs143804526
NM_032383.5(HPS3):c.1814del (p.Gly605fs)
NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro) rs2108112412
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer) rs1363245838
NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs) rs749632423
NM_032383.5(HPS3):c.1873-1G>A
NM_032383.5(HPS3):c.199C>T (p.Leu67=) rs546531255
NM_032383.5(HPS3):c.2038A>T (p.Lys680Ter)
NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)
NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter)
NM_032383.5(HPS3):c.2086_2093del (p.Glu696fs)
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs) rs1032570128
NM_032383.5(HPS3):c.2106+1G>T
NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn) rs2108168208
NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)
NM_032383.5(HPS3):c.217+2T>G rs1286892626
NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)
NM_032383.5(HPS3):c.2194dup (p.His732fs)
NM_032383.5(HPS3):c.219del (p.Asp74fs)
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2209C>T (p.Gln737Ter)
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2287_2289delinsA (p.Phe763fs)
NM_032383.5(HPS3):c.2289del (p.Phe763fs)
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs) rs868868714
NM_032383.5(HPS3):c.2370C>G (p.Leu790=) rs746304657
NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs)
NM_032383.5(HPS3):c.2380del (p.Val794fs)
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)
NM_032383.5(HPS3):c.2425A>T (p.Arg809Ter)
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg) rs1724018415
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) rs373037058
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs)
NM_032383.5(HPS3):c.249_252del (p.Asn83fs) rs770108122
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter)
NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs)
NM_032383.5(HPS3):c.2525_2526del (p.His842fs)
NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs)
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter) rs2108173648
NM_032383.5(HPS3):c.2589+1G>A rs281865095
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2650del (p.Ser884fs)
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2693G>A (p.Arg898His)
NM_032383.5(HPS3):c.272A>C (p.Tyr91Ser)
NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter)
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)
NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
NM_032383.5(HPS3):c.2796+1del rs2108184819
NM_032383.5(HPS3):c.2800_2801del (p.Leu934fs)
NM_032383.5(HPS3):c.2805G>A (p.Trp935Ter)
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)
NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)
NM_032383.5(HPS3):c.2887+18_2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+1G>A
NM_032383.5(HPS3):c.2887+8G>T rs781312506
NM_032383.5(HPS3):c.288_289del (p.Asn96fs)
NM_032383.5(HPS3):c.2932A>G (p.Met978Val) rs1206629874
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)
NM_032383.5(HPS3):c.323T>C (p.Met108Thr) rs1722344814
NM_032383.5(HPS3):c.324dup (p.Ile109fs)
NM_032383.5(HPS3):c.325_328del (p.Ile109fs)
NM_032383.5(HPS3):c.356_357del (p.Lys119fs)
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter) rs1466073004
NM_032383.5(HPS3):c.371del (p.Gln124fs)
NM_032383.5(HPS3):c.395_407del (p.Leu132fs)
NM_032383.5(HPS3):c.403del (p.Ala135fs) rs748883997
NM_032383.5(HPS3):c.408del (p.Leu137fs)
NM_032383.5(HPS3):c.423T>A (p.Cys141Ter)
NM_032383.5(HPS3):c.465_468del (p.Leu156fs)
NM_032383.5(HPS3):c.46dup (p.Val16fs)
NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) rs1722360673
NM_032383.5(HPS3):c.502G>T (p.Glu168Ter)
NM_032383.5(HPS3):c.505delinsAAGCAT (p.Glu169fs)
NM_032383.5(HPS3):c.513_516del (p.Leu172fs)
NM_032383.5(HPS3):c.589dup (p.Tyr197fs)
NM_032383.5(HPS3):c.601_602insACTGTCTCTTATACACATC (p.Met201fs)
NM_032383.5(HPS3):c.617_618insTCAGCAG (p.Leu207fs)
NM_032383.5(HPS3):c.655G>T (p.Glu219Ter)
NM_032383.5(HPS3):c.658dup (p.Arg220fs)
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)
NM_032383.5(HPS3):c.695dup (p.Arg233fs)
NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.731C>A (p.Ser244Ter)
NM_032383.5(HPS3):c.731C>G (p.Ser244Ter)
NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)
NM_032383.5(HPS3):c.791_792insC (p.Lys264fs)
NM_032383.5(HPS3):c.795_796del (p.Ser265fs)
NM_032383.5(HPS3):c.795_796delinsA (p.Ser265fs)
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
NM_032383.5(HPS3):c.809T>A (p.Leu270Ter)
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)
NM_032383.5(HPS3):c.827C>G (p.Ser276Cys)
NM_032383.5(HPS3):c.84_109del (p.Arg30fs)
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.855del (p.Lys285fs)
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)
NM_032383.5(HPS3):c.869_870del (p.Gln290fs)
NM_032383.5(HPS3):c.87del (p.Arg30fs)
NM_032383.5(HPS3):c.882T>G (p.Tyr294Ter)
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076
NM_032383.5(HPS3):c.884+1G>A
NM_032383.5(HPS3):c.884+21_884+25dup rs10693502
NM_032383.5(HPS3):c.884+22_884+25dup rs10693502
NM_032383.5(HPS3):c.884+24_884+25dup rs10693502
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_032383.5(HPS3):c.904dup (p.Ser302fs)
NM_032383.5(HPS3):c.931A>T (p.Lys311Ter)
NM_032383.5(HPS3):c.950_951del (p.Leu317fs)
NM_032383.5(HPS3):c.956_957del (p.Pro319fs)
NM_032383.5(HPS3):c.963C>T (p.Tyr321=) rs1722440534
NM_032383.5(HPS3):c.964del (p.Gln322fs)
NM_032383.5(HPS3):c.970+1G>A
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_032383.5(HPS3):c.995dup (p.Asn332fs)
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) rs2107265602
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A]
NM_139027.6(ADAMTS13):c.-52C>G rs587771364
NM_139027.6(ADAMTS13):c.1045C>A (p.Arg349Ser)
NM_139027.6(ADAMTS13):c.1054G>A (p.Val352Ile)
NM_139027.6(ADAMTS13):c.1084G>A (p.Val362Met)
NM_139027.6(ADAMTS13):c.1087G>A (p.Glu363Lys)
NM_139027.6(ADAMTS13):c.1092+16G>A
NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)
NM_139027.6(ADAMTS13):c.1123G>T (p.Val375Leu)
NM_139027.6(ADAMTS13):c.1135C>T (p.Pro379Ser)
NM_139027.6(ADAMTS13):c.1150C>T (p.His384Tyr)
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) rs142214608
NM_139027.6(ADAMTS13):c.1167C>G (p.Ser389Arg)
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_139027.6(ADAMTS13):c.1180A>T (p.Ser394Cys)
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.1262G>A (p.Arg421His)
NM_139027.6(ADAMTS13):c.1262G>C (p.Arg421Pro)
NM_139027.6(ADAMTS13):c.1266del (p.Cys423fs)
NM_139027.6(ADAMTS13):c.1291G>A (p.Glu431Lys)
NM_139027.6(ADAMTS13):c.1296G>A (p.Met432Ile)
NM_139027.6(ADAMTS13):c.1308+2_1308+5del
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090
NM_139027.6(ADAMTS13):c.1327C>A (p.Leu443Met)
NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs) rs2130845614
NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=) rs587602874
NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter) rs121908476
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) rs375508823
NM_139027.6(ADAMTS13):c.1360G>C (p.Asp454His)
NM_139027.6(ADAMTS13):c.1363G>C (p.Gly455Arg)
NM_139027.6(ADAMTS13):c.1363G>T (p.Gly455Cys)
NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met) rs201522226
NM_139027.6(ADAMTS13):c.1376G>A (p.Arg459His)
NM_139027.6(ADAMTS13):c.1432C>G (p.Gln478Glu)
NM_139027.6(ADAMTS13):c.1435+4G>A
NM_139027.6(ADAMTS13):c.1436-7C>G
NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=) rs372953477
NM_139027.6(ADAMTS13):c.1456_1457del (p.Met486fs)
NM_139027.6(ADAMTS13):c.1463G>A (p.Arg488Gln)
NM_139027.6(ADAMTS13):c.1477A>C (p.Ser493Arg)
NM_139027.6(ADAMTS13):c.1506C>G (p.Phe502Leu)
NM_139027.6(ADAMTS13):c.1519C>T (p.Arg507Trp) rs909831139
NM_139027.6(ADAMTS13):c.1531A>G (p.Ser511Gly)
NM_139027.6(ADAMTS13):c.1538C>G (p.Pro513Arg)
NM_139027.6(ADAMTS13):c.1543G>A (p.Glu515Lys)
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
NM_139027.6(ADAMTS13):c.1571C>T (p.Ser524Leu)
NM_139027.6(ADAMTS13):c.1578C>G (p.Ser526Arg)
NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly) rs121908473
NM_139027.6(ADAMTS13):c.1584+6C>T
NM_139027.6(ADAMTS13):c.1584+9G>A
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.1601G>A (p.Gly534Asp)
NM_139027.6(ADAMTS13):c.1627G>T (p.Asp543Tyr)
NM_139027.6(ADAMTS13):c.1632G>T (p.Arg544Ser)
NM_139027.6(ADAMTS13):c.1672C>T (p.Arg558Trp)
NM_139027.6(ADAMTS13):c.1687A>G (p.Thr563Ala)
NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)
NM_139027.6(ADAMTS13):c.16C>T (p.Pro6Ser)
NM_139027.6(ADAMTS13):c.1705+17G>A
NM_139027.6(ADAMTS13):c.1705+1G>A
NM_139027.6(ADAMTS13):c.1705+6C>T
NM_139027.6(ADAMTS13):c.1769C>T (p.Pro590Leu)
NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs) rs387906344
NM_139027.6(ADAMTS13):c.1787-1G>A
NM_139027.6(ADAMTS13):c.1787-8C>G rs1841567307
NM_139027.6(ADAMTS13):c.178C>A (p.Pro60Thr)
NM_139027.6(ADAMTS13):c.1801G>A (p.Gly601Arg)
NM_139027.6(ADAMTS13):c.181C>T (p.Pro61Ser)
NM_139027.6(ADAMTS13):c.182C>G (p.Pro61Arg)
NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val) rs1841574241
NM_139027.6(ADAMTS13):c.1850A>G (p.Tyr617Cys)
NM_139027.6(ADAMTS13):c.1873C>T (p.Arg625Cys)
NM_139027.6(ADAMTS13):c.1900G>A (p.Glu634Lys)
NM_139027.6(ADAMTS13):c.1907G>A (p.Arg636Gln)
NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=) rs1841587519
NM_139027.6(ADAMTS13):c.1915C>T (p.Arg639Cys)
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) rs138699340
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)
NM_139027.6(ADAMTS13):c.1968G>A (p.Gln656=)
NM_139027.6(ADAMTS13):c.1974C>T (p.Tyr658=)
NM_139027.6(ADAMTS13):c.1978C>T (p.Arg660Trp)
NM_139027.6(ADAMTS13):c.197AGAGGC[2] (p.66QR[2])
NM_139027.6(ADAMTS13):c.197AGAGGC[3] (p.66QR[3])
NM_139027.6(ADAMTS13):c.197AGAGGC[5] (p.Arg73_Arg74insGlnArg)
NM_139027.6(ADAMTS13):c.2011C>T (p.Pro671Ser)
NM_139027.6(ADAMTS13):c.2012C>T (p.Pro671Leu) rs281875295
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.2056T>C (p.Trp686Arg)
NM_139027.6(ADAMTS13):c.2088G>A (p.Ser696=)
NM_139027.6(ADAMTS13):c.2099G>C (p.Gly700Ala)
NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp) rs1841759683
NM_139027.6(ADAMTS13):c.2130C>T (p.Cys710=)
NM_139027.6(ADAMTS13):c.2173C>T (p.Gln725Ter)
NM_139027.6(ADAMTS13):c.2197T>C (p.Trp733Arg)
NM_139027.6(ADAMTS13):c.2209T>C (p.Cys737Arg) rs1554791280
NM_139027.6(ADAMTS13):c.220_221insAGAGTC (p.Arg73_Arg74insGlnSer)
NM_139027.6(ADAMTS13):c.221G>A (p.Arg74Gln)
NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter)
NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser)
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg) rs281875300
NM_139027.6(ADAMTS13):c.2278G>A (p.Gly760Ser)
NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)
NM_139027.6(ADAMTS13):c.2298A>G (p.Pro766=)
NM_139027.6(ADAMTS13):c.2302C>G (p.Arg768Gly)
NM_139027.6(ADAMTS13):c.2302C>T (p.Arg768Cys)
NM_139027.6(ADAMTS13):c.232G>A (p.Gly78Ser)
NM_139027.6(ADAMTS13):c.2362G>A (p.Gly788Arg)
NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr) rs781957737
NM_139027.6(ADAMTS13):c.2376_2401del (p.Ala793fs) rs387906342
NM_139027.6(ADAMTS13):c.2384C>A (p.Ala795Glu)
NM_139027.6(ADAMTS13):c.2393C>A (p.Thr798Asn)
NM_139027.6(ADAMTS13):c.2409C>T (p.Pro803=)
NM_139027.6(ADAMTS13):c.2421-5C>T
NM_139027.6(ADAMTS13):c.2437C>A (p.Pro813Thr)
NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser) rs1554792055
NM_139027.6(ADAMTS13):c.2512C>G (p.Leu838Val)
NM_139027.6(ADAMTS13):c.2533G>A (p.Gly845Arg)
NM_139027.6(ADAMTS13):c.2555del (p.Lys852fs)
NM_139027.6(ADAMTS13):c.2563G>A (p.Ala855Thr)
NM_139027.6(ADAMTS13):c.2590T>C (p.Cys864Arg)
NM_139027.6(ADAMTS13):c.2606G>C (p.Gly869Ala)
NM_139027.6(ADAMTS13):c.2609A>T (p.His870Leu)
NM_139027.6(ADAMTS13):c.2619C>T (p.Ala873=)
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.264G>A (p.Val88=)
NM_139027.6(ADAMTS13):c.2694C>T (p.Thr898=)
NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=)
NM_139027.6(ADAMTS13):c.2710T>C (p.Cys904Arg)
NM_139027.6(ADAMTS13):c.2729G>A (p.Arg910Gln)
NM_139027.6(ADAMTS13):c.272A>G (p.Asp91Gly)
NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter)
NM_139027.6(ADAMTS13):c.2828G>A (p.Arg943Gln)
NM_139027.6(ADAMTS13):c.2843C>T (p.Ala948Val)
NM_139027.6(ADAMTS13):c.2849C>T (p.Pro950Leu)
NM_139027.6(ADAMTS13):c.2854C>T (p.Pro952Ser)
NM_139027.6(ADAMTS13):c.2862-19T>C
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) rs1588198044
NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)
NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp) rs121908467
NM_139027.6(ADAMTS13):c.2879C>T (p.Ala960Val)
NM_139027.6(ADAMTS13):c.2885G>A (p.Cys962Tyr)
NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs) rs387906345
NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)
NM_139027.6(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) rs387906346
NM_139027.6(ADAMTS13):c.2935del (p.Arg979fs) rs886063635
NM_139027.6(ADAMTS13):c.2957G>A (p.Gly986Asp)
NM_139027.6(ADAMTS13):c.2989G>A (p.Gly997Arg)
NM_139027.6(ADAMTS13):c.2990G>A (p.Gly997Glu)
NM_139027.6(ADAMTS13):c.2998C>G (p.Arg1000Gly)
NM_139027.6(ADAMTS13):c.2999G>A (p.Arg1000His)
NM_139027.6(ADAMTS13):c.3002C>T (p.Pro1001Leu)
NM_139027.6(ADAMTS13):c.3044+4A>G
NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)
NM_139027.6(ADAMTS13):c.3077C>T (p.Ala1026Val)
NM_139027.6(ADAMTS13):c.3091G>C (p.Gly1031Arg)
NM_139027.6(ADAMTS13):c.3104G>A (p.Arg1035His)
NM_139027.6(ADAMTS13):c.3114C>G (p.Ala1038=)
NM_139027.6(ADAMTS13):c.3124C>T (p.Leu1042Phe)
NM_139027.6(ADAMTS13):c.3158C>T (p.Ala1053Val)
NM_139027.6(ADAMTS13):c.3161C>T (p.Ala1054Val)
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val) rs376017677
NM_139027.6(ADAMTS13):c.3196C>A (p.Pro1066Thr)
NM_139027.6(ADAMTS13):c.3198_3199del (p.Cys1067fs)
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) rs1554795391
NM_139027.6(ADAMTS13):c.3280C>T (p.Arg1094Cys)
NM_139027.6(ADAMTS13):c.3281G>A (p.Arg1094His)
NM_139027.6(ADAMTS13):c.3283C>T (p.Arg1095Trp)
NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)
NM_139027.6(ADAMTS13):c.330+1G>A rs375415632
NM_139027.6(ADAMTS13):c.331-1G>A rs786205078
NM_139027.6(ADAMTS13):c.3352A>G (p.Lys1118Glu)
NM_139027.6(ADAMTS13):c.3400+106T>C
NM_139027.6(ADAMTS13):c.3400+126C>T
NM_139027.6(ADAMTS13):c.3400+130G>A
NM_139027.6(ADAMTS13):c.3400+143del rs1060499780
NM_139027.6(ADAMTS13):c.3400+149G>T
NM_139027.6(ADAMTS13):c.3400+160T>C
NM_139027.6(ADAMTS13):c.3400+161_3400+175del
NM_139027.6(ADAMTS13):c.3400+33G>A
NM_139027.6(ADAMTS13):c.3400+51A>G
NM_139027.6(ADAMTS13):c.3400G>A (p.Gly1134Ser)
NM_139027.6(ADAMTS13):c.3401-40C>T
NM_139027.6(ADAMTS13):c.3412A>G (p.Arg1138Gly)
NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)
NM_139027.6(ADAMTS13):c.3427C>T (p.Pro1143Ser)
NM_139027.6(ADAMTS13):c.346C>T (p.Arg116Trp)
NM_139027.6(ADAMTS13):c.3483T>C (p.Ile1161=) rs782235608
NM_139027.6(ADAMTS13):c.3502G>A (p.Val1168Met)
NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=) rs1842731712
NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)
NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=) rs1842757375
NM_139027.6(ADAMTS13):c.3578C>T (p.Thr1193Ile)
NM_139027.6(ADAMTS13):c.3602dup (p.Leu1202fs) rs387906341
NM_139027.6(ADAMTS13):c.3604_3605dup (p.Leu1202fs)
NM_139027.6(ADAMTS13):c.360G>A (p.Leu120=)
NM_139027.6(ADAMTS13):c.3628A>T (p.Thr1210Ser) rs782798764
NM_139027.6(ADAMTS13):c.3633C>G (p.Asn1211Lys)
NM_139027.6(ADAMTS13):c.3635C>T (p.Thr1212Met)
NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) rs782463983
NM_139027.6(ADAMTS13):c.3661C>T (p.Arg1221Trp)
NM_139027.6(ADAMTS13):c.3680T>C (p.Leu1227Pro)
NM_139027.6(ADAMTS13):c.3695G>A (p.Ser1232Asn)
NM_139027.6(ADAMTS13):c.3714C>T (p.Thr1238=)
NM_139027.6(ADAMTS13):c.3724+1G>A rs1554796161
NM_139027.6(ADAMTS13):c.3734T>C (p.Met1245Thr)
NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp) rs587701622
NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser) rs200645384
NM_139027.6(ADAMTS13):c.3820A>G (p.Asn1274Asp)
NM_139027.6(ADAMTS13):c.3830C>T (p.Pro1277Leu)
NM_139027.6(ADAMTS13):c.3932G>A (p.Arg1311Lys)
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_139027.6(ADAMTS13):c.3953A>G (p.Gln1318Arg)
NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg) rs1842931730
NM_139027.6(ADAMTS13):c.3985C>T (p.Gln1329Ter)
NM_139027.6(ADAMTS13):c.4006G>A (p.Glu1336Lys)
NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)
NM_139027.6(ADAMTS13):c.4082del (p.Asp1361fs)
NM_139027.6(ADAMTS13):c.4100_4109del (p.Gly1367fs)
NM_139027.6(ADAMTS13):c.414+1G>A rs786205077
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_139027.6(ADAMTS13):c.41G>C (p.Cys14Ser)
NM_139027.6(ADAMTS13):c.449C>A (p.Ser150Tyr)
NM_139027.6(ADAMTS13):c.463T>C (p.Cys155Arg)
NM_139027.6(ADAMTS13):c.485A>C (p.Asn162Thr)
NM_139027.6(ADAMTS13):c.485A>G (p.Asn162Ser)
NM_139027.6(ADAMTS13):c.539+5C>T
NM_139027.6(ADAMTS13):c.55C>T (p.Leu19Phe)
NM_139027.6(ADAMTS13):c.569G>A (p.Arg190Gln)
NM_139027.6(ADAMTS13):c.583G>A (p.Val195Ile)
NM_139027.6(ADAMTS13):c.58G>A (p.Ala20Thr)
NM_139027.6(ADAMTS13):c.610C>T (p.Pro204Ser)
NM_139027.6(ADAMTS13):c.634G>A (p.Glu212Lys)
NM_139027.6(ADAMTS13):c.649G>A (p.Asp217Asn)
NM_139027.6(ADAMTS13):c.649G>T (p.Asp217Tyr)
NM_139027.6(ADAMTS13):c.687-7C>A
NM_139027.6(ADAMTS13):c.687-8C>G
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr)
NM_139027.6(ADAMTS13):c.710C>T (p.Ala237Val)
NM_139027.6(ADAMTS13):c.717C>T (p.Gly239=)
NM_139027.6(ADAMTS13):c.722G>A (p.Gly241Asp)
NM_139027.6(ADAMTS13):c.722del (p.Gly241fs)
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)
NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val) rs121908478
NM_139027.6(ADAMTS13):c.769C>G (p.Arg257Gly)
NM_139027.6(ADAMTS13):c.781del (p.Ala261fs)
NM_139027.6(ADAMTS13):c.794G>C (p.Cys265Ser)
NM_139027.6(ADAMTS13):c.799_808del (p.Arg267fs)
NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro) rs121908477
NM_139027.6(ADAMTS13):c.816C>G (p.Ser272Arg) rs1344972182
NM_139027.6(ADAMTS13):c.824+14C>G
NM_139027.6(ADAMTS13):c.824+5C>G rs886063633
NM_139027.6(ADAMTS13):c.824+8C>T rs781862563
NM_139027.6(ADAMTS13):c.826G>A (p.Ala276Thr)
NM_139027.6(ADAMTS13):c.833G>C (p.Arg278Pro)
NM_139027.6(ADAMTS13):c.841T>C (p.Cys281Arg)
NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter) rs2130769073
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)
NM_139027.6(ADAMTS13):c.868C>T (p.Pro290Ser)
NM_139027.6(ADAMTS13):c.881G>T (p.Gly294Val)
NM_139027.6(ADAMTS13):c.890C>T (p.Pro297Leu)
NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp) rs1232529325
NM_139027.6(ADAMTS13):c.910T>C (p.Tyr304His)
NM_139027.6(ADAMTS13):c.919G>A (p.Ala307Thr)
NM_139027.6(ADAMTS13):c.925G>C (p.Glu309Gln)
NM_139027.6(ADAMTS13):c.950C>T (p.Pro317Leu)
NM_139027.6(ADAMTS13):c.961G>C (p.Ala321Pro)
NM_139027.6(ADAMTS13):c.965G>T (p.Cys322Phe)
NM_139027.6(ADAMTS13):c.968C>G (p.Thr323Ser)
NM_139027.6(ADAMTS13):c.978G>C (p.Arg326Ser)
NM_139279.6(MCFD2):c.*1059C>G rs1420248449
NM_139279.6(MCFD2):c.*1464A>G rs1207325090
NM_139279.6(MCFD2):c.*1677T>G rs28770495
NM_139279.6(MCFD2):c.*1867C>A rs1558458280
NM_139279.6(MCFD2):c.*2106T>G rs1668088874
NM_139279.6(MCFD2):c.*2141G>C rs546151221
NM_139279.6(MCFD2):c.*217T>G rs746370141
NM_139279.6(MCFD2):c.*2436G>T rs535350829
NM_139279.6(MCFD2):c.*2565A>G rs886056110
NM_139279.6(MCFD2):c.*2780_*2781del rs886056109
NM_139279.6(MCFD2):c.*3072_*3073insGG rs559484016
NM_139279.6(MCFD2):c.*3099G>A rs886056106
NM_139279.6(MCFD2):c.*3354A>G rs886056105
NM_139279.6(MCFD2):c.*422T>C rs1668160546
NM_139279.6(MCFD2):c.*529G>A rs542831100
NM_139279.6(MCFD2):c.*632T>C rs1668150921
NM_139279.6(MCFD2):c.*751G>A rs544942135
NM_139279.6(MCFD2):c.*79A>G rs1572605422
NM_139279.6(MCFD2):c.*892G>A rs886056114
NM_139279.6(MCFD2):c.-34C>A rs886056119
NM_139279.6(MCFD2):c.-90del rs886056122
NM_139279.6(MCFD2):c.103del (p.Gln35fs) rs1253799389
NM_139279.6(MCFD2):c.108C>A (p.Pro36=) rs767456045
NM_139279.6(MCFD2):c.241G>T (p.Asp81Tyr) rs78289603
NM_139279.6(MCFD2):c.265_272del (p.Asp89fs) rs1558461545
NM_139279.6(MCFD2):c.309+1G>A rs387906287
NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs) rs1484184249
NM_139279.6(MCFD2):c.387C>G (p.Asp129Glu) rs137852913
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_145167.3(PIGM):c.1001A>C (p.Gln334Pro) rs1648302230
NM_145167.3(PIGM):c.1042C>G (p.Pro348Ala) rs201082832
NM_145167.3(PIGM):c.1042C>T (p.Pro348Ser)
NM_145167.3(PIGM):c.1090T>C (p.Trp364Arg)
NM_145167.3(PIGM):c.1093T>G (p.Phe365Val)
NM_145167.3(PIGM):c.1100G>T (p.Gly367Val)
NM_145167.3(PIGM):c.1140del (p.Gln381fs)
NM_145167.3(PIGM):c.1143A>G (p.Gln381=)
NM_145167.3(PIGM):c.1148A>T (p.Lys383Met)
NM_145167.3(PIGM):c.114C>G (p.Phe38Leu)
NM_145167.3(PIGM):c.1159_1160del (p.Leu387fs)
NM_145167.3(PIGM):c.1193T>C (p.Leu398Pro)
NM_145167.3(PIGM):c.1217A>C (p.Gln406Pro)
NM_145167.3(PIGM):c.1254_1257del (p.Arg419fs) rs755366154
NM_145167.3(PIGM):c.1269C>G (p.Asp423Glu)
NM_145167.3(PIGM):c.129G>A (p.Leu43=)
NM_145167.3(PIGM):c.130C>T (p.His44Tyr)
NM_145167.3(PIGM):c.148A>G (p.Ile50Val)
NM_145167.3(PIGM):c.160G>C (p.Val54Leu)
NM_145167.3(PIGM):c.189G>C (p.Thr63=)
NM_145167.3(PIGM):c.212G>A (p.Arg71Lys)
NM_145167.3(PIGM):c.216C>A (p.Ala72=)
NM_145167.3(PIGM):c.224G>A (p.Arg75His)
NM_145167.3(PIGM):c.232C>T (p.Pro78Ser)
NM_145167.3(PIGM):c.23G>A (p.Gly8Asp)
NM_145167.3(PIGM):c.254C>G (p.Thr85Ser)
NM_145167.3(PIGM):c.303C>A (p.Ser101Arg)
NM_145167.3(PIGM):c.364C>T (p.Arg122Cys)
NM_145167.3(PIGM):c.401del (p.Asn134fs)
NM_145167.3(PIGM):c.41T>C (p.Leu14Ser)
NM_145167.3(PIGM):c.422C>A (p.Ser141Tyr)
NM_145167.3(PIGM):c.443C>G (p.Ser148Cys)
NM_145167.3(PIGM):c.444T>A (p.Ser148=)
NM_145167.3(PIGM):c.445A>G (p.Ile149Val)
NM_145167.3(PIGM):c.454T>G (p.Ser152Ala)
NM_145167.3(PIGM):c.457C>G (p.Leu153Val)
NM_145167.3(PIGM):c.458T>G (p.Leu153Arg)
NM_145167.3(PIGM):c.501G>T (p.Ala167=)
NM_145167.3(PIGM):c.518A>G (p.Tyr173Cys)
NM_145167.3(PIGM):c.538A>G (p.Lys180Glu)
NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)
NM_145167.3(PIGM):c.592C>T (p.Arg198Cys)
NM_145167.3(PIGM):c.605A>G (p.Lys202Arg)
NM_145167.3(PIGM):c.608G>A (p.Ser203Asn)
NM_145167.3(PIGM):c.613C>A (p.Arg205Ser)
NM_145167.3(PIGM):c.613C>T (p.Arg205Cys)
NM_145167.3(PIGM):c.649G>A (p.Glu217Lys) rs536604932
NM_145167.3(PIGM):c.649G>C (p.Glu217Gln)
NM_145167.3(PIGM):c.686T>C (p.Leu229Pro)
NM_145167.3(PIGM):c.74C>A (p.Ala25Asp)
NM_145167.3(PIGM):c.805C>T (p.His269Tyr)
NM_145167.3(PIGM):c.836A>G (p.Tyr279Cys)
NM_145167.3(PIGM):c.863T>C (p.Phe288Ser)
NM_145167.3(PIGM):c.867C>G (p.Ser289=) rs776974327
NM_145167.3(PIGM):c.8C>T (p.Ser3Phe)
NM_145167.3(PIGM):c.95T>C (p.Leu32Pro)
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
NM_172351.3(CD46):c.*1099A>G rs886045842
NM_172351.3(CD46):c.*1272C>T rs1660101231
NM_172351.3(CD46):c.*1418T>C rs1660116649
NM_172351.3(CD46):c.*1659A>G rs886045844
NM_172351.3(CD46):c.*1865G>C rs1660164008
NM_172351.3(CD46):c.*31A>G rs886045839
NM_172351.3(CD46):c.*467T>C rs953478028
NM_172351.3(CD46):c.*518A>G rs867789788
NM_172351.3(CD46):c.101C>T (p.Ala34Val) rs1571578126
NM_172351.3(CD46):c.1082+13A>T rs1175018634
NM_172351.3(CD46):c.1083-3C>G
NM_172351.3(CD46):c.1090C>T (p.Leu364=) rs1483201583
NM_172351.3(CD46):c.126_127del (p.Glu42fs)
NM_172351.3(CD46):c.191G>T (p.Cys64Phe) rs1655633353
NM_172351.3(CD46):c.217C>T (p.Pro73Ser)
NM_172351.3(CD46):c.286+27del rs371729129
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
NM_172351.3(CD46):c.351C>G (p.Tyr117Ter)
NM_172351.3(CD46):c.404del (p.Gly135fs) rs1571588257
NM_172351.3(CD46):c.476-1G>A rs1441390681
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500
NM_172351.3(CD46):c.518A>G (p.His173Arg)
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.548A>G (p.Tyr183Cys)
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) rs1656184011
NM_172351.3(CD46):c.559G>C (p.Val187Leu)
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.735del (p.Lys245fs)
NM_172351.3(CD46):c.737T>G (p.Phe246Cys)
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.800_801del (p.Thr267fs) rs1558056827
NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del) rs1255421232
NM_172351.3(CD46):c.828G>A (p.Trp276Ter) rs1571617647
NM_172351.3(CD46):c.83del (p.Leu28fs)
NM_172351.3(CD46):c.857-124T>A rs886045837
NM_172351.3(CD46):c.857-1G>A
NM_172351.3(CD46):c.907del (p.Arg303fs)
NM_172351.3(CD46):c.944-1G>C
NM_172351.3(CD46):c.949C>G (p.Pro317Ala) rs886045838
NM_181507.1(HPS5):c.-251C>T rs4150530
NM_181507.2(HPS5):c.*1003_*1004del rs886048070
NM_181507.2(HPS5):c.*1201A>G rs1858510966
NM_181507.2(HPS5):c.*655A>C rs886048073
NM_181507.2(HPS5):c.*956T>G rs886048072
NM_181507.2(HPS5):c.*960T>A rs886048071
NM_181507.2(HPS5):c.-217G>A rs761585857
NM_181507.2(HPS5):c.1032C>T (p.His344=) rs1385130088
NM_181507.2(HPS5):c.1049C>G (p.Ser350Ter)
NM_181507.2(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.2(HPS5):c.1178dup (p.Leu393fs)
NM_181507.2(HPS5):c.1217del (p.Asp406fs)
NM_181507.2(HPS5):c.1252del (p.Glu418fs)
NM_181507.2(HPS5):c.1324-32dup rs369116404
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.2(HPS5):c.1510+3G>A rs886048080
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.2(HPS5):c.1785-9C>A rs886048079
NM_181507.2(HPS5):c.1900del (p.Glu634fs) rs1131692146
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) rs779921624
NM_181507.2(HPS5):c.2058A>G (p.Glu686=) rs1860442520
NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.2(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del) rs886048077
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
NM_181507.2(HPS5):c.2561+1G>C
NM_181507.2(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.2(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr)
NM_181507.2(HPS5):c.2674G>C (p.Ala892Pro)
NM_181507.2(HPS5):c.2718-2A>G
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs) rs1131692151
NM_181507.2(HPS5):c.2837+15del rs886048076
NM_181507.2(HPS5):c.2837+1G>A
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.2(HPS5):c.3058+3A>G rs113304476
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del) rs753928208
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu) rs201664625
NM_181507.2(HPS5):c.3373T>G (p.Trp1125Gly)
NM_181507.2(HPS5):c.340C>T (p.Gln114Ter)
NM_181507.2(HPS5):c.406C>G (p.Leu136Val) rs2134473815
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657
NM_181507.2(HPS5):c.478-2A>G
NM_181507.2(HPS5):c.739dup (p.Glu247fs)
NM_181507.2(HPS5):c.818_822del (p.Thr273fs) rs1131692147
NM_181507.2(HPS5):c.823dup (p.Arg275fs)
NM_181507.2(HPS5):c.879dup (p.Lys294fs) rs281865101
NM_181507.2(HPS5):c.885C>T (p.Leu295=) rs369851648
NM_181507.2(HPS5):c.888dup (p.His297fs)
NM_181507.2(HPS5):c.927_928del (p.Gly310fs)
NM_181507.2(HPS5):c.986-1G>C
NM_201280.2:c.196-678_384+3483del
NM_201280.3(BLOC1S5):c.154del (p.Val52fs)
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter) rs567410388
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) rs1599746194
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) rs281865116
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser) rs200799185
NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu)
PROC, ARG12TRP
PROS1, 1-BP INS, 146A
PROS1, ARG410TER
PROS1, IVS10DS, G-A, +5
Single allele
WAS, 15,800-BP DEL
nsv1067844

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.