ClinVar Miner

List of variants reported as benign for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 668
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_001098671.2(RASGRP2):c.1096-44T>C rs556356 0.96381
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.94785
NM_001001548.3(CD36):c.282-10A>G rs3211892 0.92282
NM_001098671.2(RASGRP2):c.372-45T>G rs547280 0.91242
NM_001098671.2(RASGRP2):c.523-34A>G rs550930 0.91216
NM_001098671.2(RASGRP2):c.1174-43T>C rs553618 0.91127
NM_014915.3(ANKRD26):c.59A>G (p.Gln20Arg) rs7897309 0.90221
NM_001382567.1(STIM1):c.1474+17C>G rs2289570 0.89391
NM_002203.4(ITGA2):c.*721A>C rs1109527 0.88662
NM_022788.5(P2RY12):c.36T>G (p.Gly12=) rs6809699 0.88072
NM_014915.3(ANKRD26):c.709+91T>A rs10443987 0.84653
NM_016363.5(GP6):c.655C>T (p.Pro219Ser) rs1613662 0.83313
NM_014915.3(ANKRD26):c.2376-16A>G rs7096505 0.83236
NM_016363.5(GP6):c.964A>C (p.Asn322His) rs1671152 0.81180
NM_016363.5(GP6):c.950T>A (p.Leu317Gln) rs1654413 0.80050
NM_001172303.3(MASTL):c.-27T>C rs7907981 0.79017
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_016363.5(GP6):c.495T>C (p.Phe165=) rs892089 0.75735
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_016363.5(GP6):c.*792T>C rs1671150 0.75248
NM_002203.4(ITGA2):c.*3026A>G rs7719848 0.75000
NM_002203.4(ITGA2):c.630+10A>G rs1421933 0.74623
NM_002203.4(ITGA2):c.*894C>T rs1109526 0.74563
NM_016363.5(GP6):c.*395C>T rs1671151 0.74102
NM_016363.5(GP6):c.*693A>G rs1654412 0.74079
NM_016363.5(GP6):c.745G>A (p.Ala249Thr) rs2304167 0.73790
NM_001098671.2(RASGRP2):c.1591+45T>G rs533515 0.72151
NM_005476.7(GNE):c.*2391C>T rs1043313 0.71766
NM_000212.3(ITGB3):c.*1016T>A rs3809865 0.69848
NM_001382567.1(STIM1):c.1138-25T>C rs10767828 0.67780
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000460.4(THPO):c.*35G>A rs6141 0.65138
NM_001129820.2(SLFN14):c.1153A>G (p.Lys385Glu) rs321612 0.64723
NM_001129820.2(SLFN14):c.1066C>T (p.Pro356Ser) rs321613 0.64716
NM_002473.6(MYH9):c.3837+25C>T rs4821478 0.61886
NM_001172303.3(MASTL):c.2619T>C (p.Thr873=) rs10741130 0.61478
NM_001172303.3(MASTL):c.*228T>C rs1338 0.61051
NM_001172303.3(MASTL):c.-28C>A rs7919803 0.60854
NM_001172303.3(MASTL):c.1782C>T (p.Ile594=) rs1981296 0.60781
NM_001172303.3(MASTL):c.660+12A>T rs7068375 0.60773
NM_014915.3(ANKRD26):c.741-36T>G rs3737055 0.56600
NM_015175.3(NBEAL2):c.6560+31G>C rs2305638 0.55153
NM_000460.4(THPO):c.-136T>C rs956732 0.54428
NM_002473.6(MYH9):c.1554+7A>G rs3752462 0.53193
NM_001001547.2(CD36):c.-375G>C rs1194182 0.52139
NM_001382567.1(STIM1):c.271-3034G>C rs2923950 0.51498
NM_002658.6(PLAU):c.*141C>T rs4065 0.51476
NM_002658.6(PLAU):c.*844del rs2227574 0.50929
NM_002658.6(PLAU):c.681-7C>T rs2227566 0.50640
NM_001172303.3(MASTL):c.*29T>C rs10764686 0.49803
NM_014915.3(ANKRD26):c.531+38A>G rs2297147 0.49482
NM_014915.3(ANKRD26):c.740+85A>G rs10829174 0.49466
NM_016363.5(GP6):c.936C>G (p.Leu312=) rs2304166 0.48243
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634 0.48105
NM_015175.3(NBEAL2):c.1033-28C>T rs13066214 0.48036
NM_001129820.2(SLFN14):c.1061-11T>C rs321614 0.46920
NM_000212.3(ITGB3):c.2301+9C>T rs3809863 0.46212
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=) rs2304891 0.43325
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
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_002203.4(ITGA2):c.825G>A (p.Thr275=) rs1062535 0.37202
NM_002203.4(ITGA2):c.1312+12T>C rs2303127 0.36561
NM_002203.4(ITGA2):c.759C>T (p.Phe253=) rs1126643 0.36470
NM_002203.4(ITGA2):c.*3986A>C rs7725246 0.35845
NM_002203.4(ITGA2):c.*2940G>A rs6898333 0.34995
NM_002203.4(ITGA2):c.3252C>T (p.Phe1084=) rs2303122 0.34753
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=) rs2305635 0.34360
NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe) rs8073060 0.33902
NM_002473.6(MYH9):c.*596G>A rs136200 0.32779
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_002203.4(ITGA2):c.*2999A>G rs6880055 0.31005
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_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_002473.6(MYH9):c.*261G>C rs11089787 0.25506
NM_015175.3(NBEAL2):c.6801+21A>C rs13081418 0.24157
NM_002473.6(MYH9):c.*800T>C rs7078 0.23633
NM_014915.3(ANKRD26):c.624A>G (p.Val208=) rs2297145 0.22780
NM_002473.6(MYH9):c.*238G>T rs11703176 0.22062
NM_004531.5(MOCS2):c.*2158C>T rs17298242 0.20066
NM_001129820.2(SLFN14):c.278A>G (p.Gln93Arg) rs10512472 0.19284
NM_014915.3(ANKRD26):c.3913G>A (p.Val1305Ile) rs10829163 0.19017
NM_014915.3(ANKRD26):c.4542T>A (p.Phe1514Leu) rs2274741 0.19016
NM_002473.6(MYH9):c.1728+37_1728+44del rs3842715 0.18442
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) rs2269530 0.17309
NM_005476.7(GNE):c.*1781G>A rs16933086 0.17302
NM_002473.6(MYH9):c.*732C>T rs12107 0.16843
NM_005476.7(GNE):c.1817-81G>C rs2296817 0.15990
NM_004531.5(MOCS2):c.*413del rs3839261 0.15118
NM_002473.6(MYH9):c.*1314C>T rs2481 0.15103
NM_014915.3(ANKRD26):c.357+28C>G rs2297150 0.14450
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637 0.13655
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) rs5918 0.13037
NM_001001548.3(CD36):c.121-6T>C rs3173798 0.12793
NM_014915.3(ANKRD26):c.358-77C>T rs2297149 0.12672
NM_014915.3(ANKRD26):c.531+42G>A rs2297146 0.12406
NM_002658.6(PLAU):c.822C>T (p.Asn274=) rs2227568 0.12381
NM_002203.4(ITGA2):c.2376C>T (p.Asp792=) rs3212583 0.12027
NM_004531.5(MOCS2):c.*1872C>T rs77227647 0.11611
NM_002203.4(ITGA2):c.2484G>A (p.Thr828=) rs3212327 0.11398
NM_002203.4(ITGA2):c.*3918G>C rs10471829 0.11354
NM_002203.4(ITGA2):c.*2574C>G rs75427194 0.11349
NM_002203.4(ITGA2):c.*3164G>A rs7737412 0.11348
NM_002203.4(ITGA2):c.*1252G>A rs1042324 0.11343
NM_004531.5(MOCS2):c.*2032G>A rs75571463 0.11337
NM_002203.4(ITGA2):c.2568G>A (p.Leu856=) rs3213805 0.11329
NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys) rs1801106 0.11302
NM_002203.4(ITGA2):c.789T>C (p.Ala263=) rs1139484 0.10712
NM_002203.4(ITGA2):c.993A>G (p.Ala331=) rs3212523 0.10706
NM_004531.5(MOCS2):c.*2415C>T rs16880872 0.10619
NM_002203.4(ITGA2):c.*4098C>G rs10471830 0.10454
NM_002203.4(ITGA2):c.*2939C>T rs7700416 0.10451
NM_005476.7(GNE):c.*1826G>C rs7044157 0.10230
NM_000212.3(ITGB3):c.882T>C (p.Pro294=) rs5919 0.10166
NM_014915.3(ANKRD26):c.*1175C>T rs10829158 0.10152
NM_014915.3(ANKRD26):c.709+100G>C rs10443967 0.10056
NM_000212.3(ITGB3):c.*713A>G rs2317676 0.09380
NM_014915.3(ANKRD26):c.*1120A>G rs35446173 0.08865
NM_014915.3(ANKRD26):c.*1212G>A rs66931439 0.08861
NM_014915.3(ANKRD26):c.3972+3A>G rs72807627 0.08792
NM_014915.3(ANKRD26):c.*68_*69del rs3215884 0.08761
NM_014915.3(ANKRD26):c.1463-93G>A rs11015495 0.08111
NM_014915.3(ANKRD26):c.358-68G>A rs2297148 0.07915
NM_001172303.3(MASTL):c.*114A>G rs10764687 0.07899
NM_014915.3(ANKRD26):c.-59G>A rs3737056 0.07344
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) rs5756130 0.07263
NM_001129820.2(SLFN14):c.2713C>T (p.Leu905Phe) rs9907259 0.07201
NM_001172303.3(MASTL):c.1858C>G (p.Pro620Ala) rs3802526 0.06970
NM_015175.3(NBEAL2):c.*179C>A rs111271184 0.06795
NM_000460.4(THPO):c.*59G>A rs78565404 0.06355
NM_000460.4(THPO):c.*482A>T rs3804618 0.06309
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=) rs115611407 0.06231
NM_014915.3(ANKRD26):c.-140C>G rs41299222 0.05835
NM_002203.4(ITGA2):c.849C>T (p.Asp283=) rs3212521 0.05788
NM_002203.3(ITGA2):c.-124G>A rs3212385 0.05373
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_000212.3(ITGB3):c.*2327G>A rs58365772 0.05104
NM_001382567.1(STIM1):c.1138-9T>C rs58461583 0.05004
NM_015175.3(NBEAL2):c.*216A>G rs2305640 0.04972
NM_015175.3(NBEAL2):c.6919+9T>C rs3816531 0.04927
NM_002658.6(PLAU):c.691A>C (p.Lys231Gln) rs2227567 0.04766
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) rs9619601 0.04672
NM_014915.3(ANKRD26):c.2697+58A>G rs41279940 0.04593
NM_001382567.1(STIM1):c.385+12C>T rs114583092 0.04548
NM_000212.3(ITGB3):c.*671C>T rs16941864 0.04199
NM_014915.3(ANKRD26):c.1273A>G (p.Ile425Val) rs12359281 0.04174
NM_018947.6(CYCS):c.-6T>G rs11267038 0.04167
NM_005476.7(GNE):c.*630C>T rs150102934 0.03992
NM_015175.3(NBEAL2):c.1340G>A (p.Arg447His) rs17079425 0.03601
NM_000174.5(GP9):c.132G>A (p.Thr44=) rs6069 0.03533
NM_014915.3(ANKRD26):c.1207+15A>G rs115864032 0.03406
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_015175.3(NBEAL2):c.7507+6A>G rs74418680 0.02879
NM_000174.5(GP9):c.*7C>T rs115005114 0.02870
NM_002473.6(MYH9):c.3100+11G>C rs41279999 0.02869
NM_002473.6(MYH9):c.*312C>T rs16996639 0.02830
NM_005105.5(RBM8A):c.479+15G>A rs114923929 0.02823
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851 0.02789
NM_002473.6(MYH9):c.*137C>A rs114268057 0.02699
NM_002473.6(MYH9):c.*136C>A rs115869378 0.02697
NM_014915.3(ANKRD26):c.1868G>A (p.Arg623Gln) rs28477279 0.02553
NM_001129820.2(SLFN14):c.1348A>G (p.Lys450Glu) rs79007502 0.02530
NM_000212.3(ITGB3):c.-7G>C rs117052258 0.02423
NM_014915.3(ANKRD26):c.2978A>C (p.Glu993Ala) rs61745662 0.02396
NM_000419.5(ITGA2B):c.2094+13C>T rs12938868 0.02354
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_014915.3(ANKRD26):c.2376-4G>A rs75445709 0.02272
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=) rs116456978 0.01945
NM_005476.7(GNE):c.*1054C>A rs7048468 0.01927
NM_001382567.1(STIM1):c.1705C>T (p.Pro569Ser) rs35960304 0.01918
NM_014915.3(ANKRD26):c.793G>A (p.Asp265Asn) rs61730101 0.01894
NM_000212.3(ITGB3):c.342T>C (p.Ile114=) rs5920 0.01758
NM_014915.3(ANKRD26):c.1564+6T>C rs149655759 0.01710
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01449
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_015175.3(NBEAL2):c.5661A>C (p.Pro1887=) rs140548682 0.01370
NM_014915.3(ANKRD26):c.576G>A (p.Gln192=) rs41279942 0.01351
NM_014915.3(ANKRD26):c.*1433A>G rs12570065 0.01312
NM_014915.3(ANKRD26):c.*904C>A rs11015449 0.01310
NM_000174.5(GP9):c.466G>A (p.Ala156Thr) rs3796130 0.01277
NM_014915.3(ANKRD26):c.2071T>C (p.Ser691Pro) rs73596345 0.01174
NM_005373.3(MPL):c.*1054G>A rs139528456 0.01153
NM_000212.3(ITGB3):c.*1479T>C rs115310198 0.01139
NM_001172303.3(MASTL):c.2139G>A (p.Gln713=) rs41282228 0.01126
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_014915.3(ANKRD26):c.3658G>C (p.Val1220Leu) rs12572862 0.01072
NM_002203.4(ITGA2):c.2718G>A (p.Ala906=) rs3212594 0.01020
NM_002473.6(MYH9):c.1626C>T (p.Phe542=) rs7285745 0.01011
NM_004531.5(MOCS2):c.*2582A>C rs12518145 0.00995
NM_002473.6(MYH9):c.*243C>T rs136201 0.00965
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_001172303.3(MASTL):c.1828G>A (p.Val610Ile) rs35571315 0.00955
NM_002658.6(PLAU):c.-18C>A rs2227555 0.00948
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=) rs114363730 0.00928
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_000212.3(ITGB3):c.2208C>T (p.Ala736=) rs73322311 0.00885
NM_000212.3(ITGB3):c.*2455A>C rs73322322 0.00876
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_014915.3(ANKRD26):c.332A>G (p.Asn111Ser) rs79092403 0.00872
NM_002203.4(ITGA2):c.*35A>C rs113222066 0.00866
NM_002203.4(ITGA2):c.*2151A>G rs76840527 0.00855
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354 0.00844
NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu) rs115943536 0.00832
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_002473.6(MYH9):c.*1329C>T rs146582828 0.00786
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_002473.6(MYH9):c.*686C>T rs55994070 0.00779
NM_139027.6(ADAMTS13):c.1830C>T (p.Ser610=) rs36221217 0.00759
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394 0.00742
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=) rs147563206 0.00731
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=) rs72909849 0.00728
NM_002203.4(ITGA2):c.*4042G>A rs181976027 0.00698
NM_002203.4(ITGA2):c.955G>A (p.Ala319Thr) rs41272301 0.00697
NM_002203.4(ITGA2):c.*3048G>A rs115863238 0.00694
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435 0.00685
NM_002203.4(ITGA2):c.*208G>A rs190842751 0.00685
NM_004531.5(MOCS2):c.*1913G>A rs193054707 0.00676
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_002203.4(ITGA2):c.*29G>A rs13173706 0.00653
NM_002203.4(ITGA2):c.3379A>C (p.Lys1127Gln) rs3212645 0.00622
NM_002203.4(ITGA2):c.*3398T>G rs137861998 0.00614
NM_139027.6(ADAMTS13):c.*168C>T rs142792179 0.00610
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_000212.3(ITGB3):c.*517C>T rs192380904 0.00587
NM_000212.3(ITGB3):c.*1985T>C rs148880380 0.00583
NM_001172303.3(MASTL):c.477G>A (p.Pro159=) rs56204835 0.00583
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_002473.6(MYH9):c.*81C>T rs56134611 0.00569
NM_001382567.1(STIM1):c.861C>T (p.Arg287=) rs16929446 0.00556
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00554
NM_002658.6(PLAU):c.-25C>T rs2227579 0.00551
NM_000419.5(ITGA2B):c.2127G>A (p.Lys709=) rs114232872 0.00531
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_014915.2(ANKRD26):c.-184G>T rs527666933 0.00525
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) rs115031369 0.00508
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) rs55744193 0.00504
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_002203.4(ITGA2):c.*682A>G rs3212650 0.00495
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_014915.3(ANKRD26):c.2974C>T (p.Leu992=) rs3824692 0.00483
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_005105.5(RBM8A):c.240C>T (p.Val80=) rs1806851 0.00473
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) rs34104386 0.00463
NM_000174.5(GP9):c.-87T>C rs146474708 0.00459
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr) rs80097260 0.00437
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_001382567.1(STIM1):c.1239-13C>T rs115353673 0.00426
NM_001382567.1(STIM1):c.1302G>A (p.Glu434=) rs116837894 0.00426
NM_005476.7(GNE):c.*1068A>T rs187875852 0.00423
NM_002203.4(ITGA2):c.756A>C (p.Thr252=) rs61737774 0.00421
NM_002658.6(PLAU):c.1092C>T (p.Asp364=) rs148333167 0.00419
NM_002203.4(ITGA2):c.2674A>C (p.Thr892Pro) rs116473481 0.00402
NM_030773.4(TUBB1):c.827A>G (p.Gln276Arg) rs144046758 0.00402
NM_001172303.3(MASTL):c.1010C>A (p.Thr337Lys) rs36121140 0.00398
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_002203.4(ITGA2):c.*462A>C rs182541283 0.00385
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_001172303.3(MASTL):c.1736T>C (p.Met579Thr) rs150341657 0.00369
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_000212.3(ITGB3):c.362-30G>A rs147055245 0.00361
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_002203.4(ITGA2):c.1807-6T>C rs3212555 0.00346
NM_000212.3(ITGB3):c.58C>T (p.Leu20=) rs548495900 0.00345
NM_002203.4(ITGA2):c.2678T>C (p.Ile893Thr) rs80331976 0.00345
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00344
NM_015175.3(NBEAL2):c.123C>G (p.Ser41=) rs61734084 0.00344
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile) rs138288481 0.00338
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr) rs116104760 0.00338
NM_001382567.1(STIM1):c.1931C>A (p.Ser644Tyr) rs35637264 0.00323
NM_002203.4(ITGA2):c.-13G>A rs143667535 0.00321
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) rs36222894 0.00314
NM_002658.6(PLAU):c.*444T>A rs145634997 0.00312
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_001382567.1(STIM1):c.1604C>T (p.Thr535Met) rs146873551 0.00267
NM_000419.5(ITGA2B):c.409-24C>T rs199738595 0.00262
NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu) rs56151272 0.00260
NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu) rs74128547 0.00260
NM_002203.4(ITGA2):c.*2521A>C rs79488788 0.00259
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln) rs139949439 0.00251
NM_002658.6(PLAU):c.-20A>G rs201591610 0.00241
NM_002203.4(ITGA2):c.517A>G (p.Ile173Val) rs55973669 0.00232
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_014915.3(ANKRD26):c.531+10A>T rs114367485 0.00227
NM_002203.4(ITGA2):c.227G>A (p.Arg76Gln) rs143262642 0.00226
NM_001172303.3(MASTL):c.1415A>G (p.Glu472Gly) rs139695329 0.00223
NM_001172303.3(MASTL):c.2298T>C (p.Val766=) rs115175971 0.00223
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_001172303.3(MASTL):c.1488C>T (p.His496=) rs74126920 0.00212
NM_001382567.1(STIM1):c.1896C>G (p.Pro632=) rs61743670 0.00212
NM_014915.3(ANKRD26):c.92G>C (p.Gly31Ala) rs199849785 0.00202
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) rs148109368 0.00198
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser) rs201068693 0.00192
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly) rs186243874 0.00188
NM_005373.3(MPL):c.*1603A>C rs142139493 0.00182
NM_005373.3(MPL):c.*1180G>A rs117166528 0.00181
NM_001382567.1(STIM1):c.507C>T (p.Val169=) rs140488516 0.00178
NM_002658.6(PLAU):c.*60A>C rs142117323 0.00177
NM_002203.4(ITGA2):c.3021T>G (p.Thr1007=) rs55980302 0.00173
NM_002658.6(PLAU):c.162A>G (p.Pro54=) rs142059320 0.00165
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00157
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_001172303.3(MASTL):c.1045G>A (p.Ala349Thr) rs146165894 0.00151
NM_002658.6(PLAU):c.*520G>T rs117134857 0.00143
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_014915.3(ANKRD26):c.4259G>A (p.Cys1420Tyr) rs146159734 0.00138
NM_002203.4(ITGA2):c.*2075A>G rs188770677 0.00136
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg) rs141748831 0.00136
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_002203.4(ITGA2):c.*2716C>G rs149715267 0.00123
NM_014915.3(ANKRD26):c.4145T>A (p.Phe1382Tyr) rs78251061 0.00122
NM_002473.6(MYH9):c.1176G>A (p.Pro392=) rs143316848 0.00121
NM_015175.3(NBEAL2):c.384C>G (p.Gly128=) rs113523265 0.00121
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_002203.4(ITGA2):c.3154A>T (p.Thr1052Ser) rs150997093 0.00117
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_002473.6(MYH9):c.-19-7C>T rs184332718 0.00111
NM_004531.5(MOCS2):c.*2045G>A rs577647122 0.00111
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_014915.3(ANKRD26):c.*1012C>A rs540664871 0.00096
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile) rs191015656 0.00093
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) rs5917 0.00091
NM_001172303.3(MASTL):c.2060A>G (p.Tyr687Cys) rs41282224 0.00091
NM_002473.6(MYH9):c.*474C>T rs55979529 0.00091
NM_000419.5(ITGA2B):c.1846G>A (p.Val616Met) rs141885563 0.00088
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.615C>T (p.Gly205=) rs139466141 0.00088
NM_002203.4(ITGA2):c.*3310T>G rs557257907 0.00087
NM_005105.5(RBM8A):c.318C>T (p.Leu106=) rs139097271 0.00086
NM_014915.3(ANKRD26):c.1806G>A (p.Glu602=) rs187923892 0.00086
NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala) rs201461870 0.00085
NM_001382567.1(STIM1):c.387A>G (p.Val129=) rs116855870 0.00083
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_001382567.1(STIM1):c.234T>C (p.Asp78=) rs146126071 0.00081
NM_002473.6(MYH9):c.*8C>T rs201455315 0.00081
NM_001382567.1(STIM1):c.1170C>G (p.Leu390=) rs143609147 0.00080
NM_001172303.3(MASTL):c.*60A>T rs570139166 0.00076
NM_001172303.3(MASTL):c.2120A>T (p.His707Leu) rs34635408 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_001172303.3(MASTL):c.*132G>A rs570707157 0.00075
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_001172303.3(MASTL):c.34G>C (p.Gly12Arg) rs151176548 0.00072
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_002658.6(PLAU):c.445C>T (p.His149Tyr) rs117135013 0.00070
NM_002658.6(PLAU):c.878G>A (p.Arg293Gln) rs546931331 0.00068
NM_002203.4(ITGA2):c.*1635A>G rs192927707 0.00066
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480 0.00066
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_001172303.3(MASTL):c.1016T>A (p.Met339Lys) rs144503451 0.00063
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607 0.00061
NM_002658.6(PLAU):c.*355C>T rs140559980 0.00056
NM_001172303.3(MASTL):c.871C>T (p.Leu291Phe) rs148318181 0.00055
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=) rs139441456 0.00055
NM_000377.3(WAS):c.90C>T (p.His30=) rs148800063 0.00053
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_002203.4(ITGA2):c.2742-4A>G rs41272305 0.00052
NM_002203.4(ITGA2):c.*707G>C rs191591133 0.00049
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_014915.3(ANKRD26):c.4188T>C (p.Asp1396=) rs199589035 0.00046
NM_002203.4(ITGA2):c.2483C>T (p.Thr828Met) rs79932422 0.00045
NM_002203.4(ITGA2):c.633G>A (p.Val211=) rs26675 0.00042
NM_000174.5(GP9):c.445T>C (p.Leu149=) rs144345517 0.00041
NM_001172303.3(MASTL):c.812-8C>T rs190402403 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_002203.4(ITGA2):c.327G>A (p.Met109Ile) rs188816090 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser) rs201638257 0.00039
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_002203.4(ITGA2):c.*1749T>C rs548494960 0.00038
NM_002473.6(MYH9):c.2517G>A (p.Gln839=) rs34498733 0.00038
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_002658.6(PLAU):c.*335G>A rs185909762 0.00038
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp) rs149647444 0.00037
NM_002203.4(ITGA2):c.*2064C>T rs201170451 0.00036
NM_002203.4(ITGA2):c.1638C>T (p.Pro546=) rs199602142 0.00036
NM_002473.6(MYH9):c.*329C>T rs566336121 0.00035
NM_001172303.3(MASTL):c.1816G>T (p.Asp606Tyr) rs35413630 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_002658.6(PLAU):c.1222G>A (p.Val408Ile) rs200165551 0.00031
NM_002473.6(MYH9):c.*906G>T rs192511111 0.00030
NM_002473.6(MYH9):c.4902C>T (p.Asp1634=) rs146184921 0.00030
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191 0.00030
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_014915.3(ANKRD26):c.2697+9A>G rs370796881 0.00029
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_002473.6(MYH9):c.4359G>A (p.Glu1453=) rs202127454 0.00028
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val) rs193178384 0.00027
NM_000419.5(ITGA2B):c.671-13C>T rs200108644 0.00026
NM_002473.6(MYH9):c.*325C>T rs189775203 0.00026
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) rs149560153 0.00026
NM_014915.3(ANKRD26):c.531+9C>G rs142574680 0.00026
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_014915.3(ANKRD26):c.2232T>A (p.Asn744Lys) rs368921201 0.00024
NM_002473.6(MYH9):c.*193C>T rs181364853 0.00023
NM_014915.3(ANKRD26):c.874+8G>T rs377114195 0.00023
NM_002473.6(MYH9):c.2061C>T (p.Leu687=) rs143801000 0.00022
NM_002658.6(PLAU):c.236G>A (p.Arg79Gln) rs201299522 0.00022
NM_014915.3(ANKRD26):c.3655-4T>C rs200124932 0.00022
NM_000377.3(WAS):c.1455C>T (p.Asp485=) rs35359501 0.00021
NM_002473.6(MYH9):c.18C>T (p.Ala6=) rs141055332 0.00021
NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile) rs199683454 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_002473.6(MYH9):c.1098C>T (p.Pro366=) rs537679678 0.00020
NM_001172303.3(MASTL):c.1355C>A (p.Ser452Tyr) rs148839815 0.00019
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=) rs148849381 0.00018
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) rs148632964 0.00016
NM_014915.3(ANKRD26):c.1635+9T>C rs199590440 0.00016
NM_001382567.1(STIM1):c.201A>G (p.Ala67=) rs200194500 0.00015
NM_001382567.1(STIM1):c.597C>A (p.Leu199=) rs189905382 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) rs201415443 0.00015
NM_002473.6(MYH9):c.543G>A (p.Thr181=) rs146514663 0.00015
NM_001128227.3(GNE):c.51+17T>G rs144416128 0.00014
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_014915.3(ANKRD26):c.101C>T (p.Ala34Val) rs368560982 0.00014
NM_014915.3(ANKRD26):c.4879C>T (p.Pro1627Ser) rs572143624 0.00014
NM_002203.4(ITGA2):c.2377G>A (p.Gly793Arg) rs118190231 0.00013
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) rs145444485 0.00012
NM_000212.3(ITGB3):c.1641C>T (p.Cys547=) rs185135224 0.00011
NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=) rs117870452 0.00011
NM_002203.4(ITGA2):c.*1915G>A rs140728831 0.00011
NM_002203.4(ITGA2):c.*3889A>G rs530007169 0.00011
NM_002203.4(ITGA2):c.3034G>A (p.Asp1012Asn) rs199575892 0.00011
NM_002203.4(ITGA2):c.3518T>C (p.Ile1173Thr) rs200155411 0.00011
NM_002473.6(MYH9):c.3852C>T (p.Asn1284=) rs200272787 0.00011
NM_002658.6(PLAU):c.581C>T (p.Ala194Val) rs145865648 0.00011
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) rs781898144 0.00010
NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp) rs368602859 0.00010
NM_000377.3(WAS):c.696G>A (p.Lys232=) rs368379103 0.00009
NM_001172303.3(MASTL):c.1930A>C (p.Lys644Gln) rs140163549 0.00009
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln) rs200351280 0.00009
NM_002203.4(ITGA2):c.11A>G (p.Glu4Gly) rs559975113 0.00009
NM_002203.4(ITGA2):c.2429A>G (p.Gln810Arg) rs191616009 0.00009
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_002658.6(PLAU):c.111A>G (p.Gly37=) rs200927138 0.00009
NM_014915.3(ANKRD26):c.2559+10T>A rs768668962 0.00009
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_002473.6(MYH9):c.4345-11C>G rs376040199 0.00008
NM_002658.6(PLAU):c.*266T>C rs565576288 0.00008
NM_002658.6(PLAU):c.972C>T (p.Thr324=) rs375950656 0.00008
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
NM_001172303.3(MASTL):c.324+4A>C rs751957791 0.00007
NM_002473.6(MYH9):c.*195T>C rs771229879 0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_014915.3(ANKRD26):c.3286C>T (p.Arg1096Trp) rs367849518 0.00007
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 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_001382567.1(STIM1):c.1700A>G (p.Lys567Arg) rs140122024 0.00006
NM_002203.4(ITGA2):c.3324T>C (p.Tyr1108=) rs772014693 0.00006
NM_002473.6(MYH9):c.1578C>G (p.Ala526=) rs201827299 0.00006
NM_002473.6(MYH9):c.5787C>T (p.Val1929=) rs367698156 0.00006
NM_002658.6(PLAU):c.706A>G (p.Ile236Val) rs150389556 0.00006
NM_014915.3(ANKRD26):c.2210G>T (p.Arg737Ile) rs201688627 0.00006
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His) rs753924410 0.00006
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.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) rs200328859 0.00005
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) rs727503286 0.00005
NM_002473.6(MYH9):c.5717C>T (p.Thr1906Met) rs149663189 0.00005
NM_002473.6(MYH9):c.933C>T (p.Pro311=) rs202045249 0.00005
NM_014915.3(ANKRD26):c.756G>A (p.Pro252=) rs201128867 0.00005
NM_002203.4(ITGA2):c.996C>T (p.Ile332=) rs577503636 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) rs183685723 0.00004
NM_002473.6(MYH9):c.4830C>T (p.Ala1610=) rs751904301 0.00004
NM_002658.6(PLAU):c.*52T>A rs560674195 0.00004
NM_002658.6(PLAU):c.308C>T (p.Thr103Met) rs370278611 0.00004
NM_014915.3(ANKRD26):c.4497A>G (p.Leu1499=) rs558881577 0.00004
NM_014915.3(ANKRD26):c.5086G>A (p.Ala1696Thr) rs370943966 0.00004
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_000377.3(WAS):c.133-18C>T rs782578064 0.00003
NM_000377.3(WAS):c.463+14A>C rs1338084492 0.00003
NM_000377.3(WAS):c.912G>A (p.Arg304=) rs782572275 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_001172303.3(MASTL):c.985-7C>T rs377728904 0.00003
NM_001382567.1(STIM1):c.1611A>G (p.Pro537=) rs199512211 0.00003
NM_002203.4(ITGA2):c.268G>A (p.Ala90Thr) rs200476815 0.00003
NM_002203.4(ITGA2):c.871A>T (p.Met291Leu) rs41377544 0.00003
NM_002473.6(MYH9):c.1899C>T (p.Pro633=) rs749696998 0.00003
NM_002473.6(MYH9):c.3453G>A (p.Thr1151=) rs574230328 0.00003
NM_002473.6(MYH9):c.3606G>A (p.Ala1202=) rs771461880 0.00003
NM_002473.6(MYH9):c.4972C>T (p.Arg1658Cys) rs143972348 0.00003
NM_002473.6(MYH9):c.585G>A (p.Ala195=) rs374395918 0.00003
NM_002658.6(PLAU):c.1053C>T (p.Tyr351=) rs558920700 0.00003
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu) rs3805118 0.00003
NM_002658.6(PLAU):c.163A>G (p.Lys55Glu) rs147372618 0.00003
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.999G>A (p.Gly333=) rs369654974 0.00002
NM_002203.4(ITGA2):c.*2198T>C rs540698536 0.00002
NM_002203.4(ITGA2):c.123C>T (p.Ser41=) rs140852048 0.00002
NM_002473.6(MYH9):c.318C>T (p.Tyr106=) rs202117532 0.00002
NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys) rs750911335 0.00002
NM_002473.6(MYH9):c.4305C>T (p.Ser1435=) rs768359816 0.00002
NM_002473.6(MYH9):c.4348C>T (p.Leu1450=) rs764948348 0.00002
NM_014915.3(ANKRD26):c.1153A>G (p.Thr385Ala) rs375318218 0.00002
NM_014915.3(ANKRD26):c.1219G>A (p.Ala407Thr) rs200982037 0.00002
NM_015175.3(NBEAL2):c.2231C>T (p.Pro744Leu) rs375744996 0.00002
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) rs141605347 0.00001
NM_000377.3(WAS):c.327C>G (p.Thr109=) rs1288545461 0.00001
NM_001382567.1(STIM1):c.111G>A (p.Gly37=) rs201909794 0.00001
NM_001382567.1(STIM1):c.1305C>T (p.Ile435=) rs199801171 0.00001
NM_001382567.1(STIM1):c.1712T>C (p.Met571Thr) rs1390592487 0.00001
NM_002203.4(ITGA2):c.*1825T>C rs570965140 0.00001
NM_002203.4(ITGA2):c.636G>T (p.Gly212=) rs373539496 0.00001
NM_002473.6(MYH9):c.*13G>A rs750071451 0.00001
NM_002473.6(MYH9):c.1188G>A (p.Val396=) rs147972823 0.00001
NM_002473.6(MYH9):c.1344C>T (p.Ile448=) rs150125254 0.00001
NM_002473.6(MYH9):c.1890C>T (p.Thr630=) rs762239398 0.00001
NM_002473.6(MYH9):c.2598C>G (p.Asn866Lys) rs750718366 0.00001
NM_002473.6(MYH9):c.2607G>A (p.Thr869=) rs751880371 0.00001
NM_002473.6(MYH9):c.2977-10C>T rs188843586 0.00001
NM_002473.6(MYH9):c.3838-11G>A rs754547754 0.00001
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) rs199968414 0.00001
NM_002473.6(MYH9):c.5766-5C>T rs746967490 0.00001
NM_002658.6(PLAU):c.17C>A (p.Ala6Glu) rs371106595 0.00001
NM_002658.6(PLAU):c.602G>T (p.Arg201Leu) rs549461157 0.00001
NM_014915.3(ANKRD26):c.162C>T (p.Ala54=) rs761866364 0.00001
NM_014915.3(ANKRD26):c.2787C>T (p.Asp929=) rs370940054 0.00001
NM_000174.4(GP9):c.*143dupT rs11404362
NM_000212.3(ITGB3):c.*639G>A rs17225109
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.1544G>A (p.Arg515Gln) rs13306487
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
NM_000377.3(WAS):c.133-19C>G
NM_000377.3(WAS):c.1453+17G>A
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11del
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.559+4C>T
NM_000377.3(WAS):c.560-4A>C
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.576G>A (p.Pro192=)
NM_000377.3(WAS):c.606C>A (p.Ile202=)
NM_000377.3(WAS):c.618C>T (p.Asp206=)
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del) rs782409127
NM_000377.3(WAS):c.6T>C (p.Ser2=)
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000377.3(WAS):c.931+20C>A rs782462041
NM_000377.3(WAS):c.945G>A (p.Pro315=)
NM_000419.5(ITGA2B):c.1600+11T>C
NM_000419.5(ITGA2B):c.1600+16G>T rs199614885
NM_000419.5(ITGA2B):c.1815G>A (p.Pro605=) rs5912
NM_000419.5(ITGA2B):c.1815G>C (p.Pro605=)
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402
NM_000419.5(ITGA2B):c.2094+10C>A
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2943+18G>A
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_001001548.3(CD36):c.-132A>C rs1049654
NM_001172303.3(MASTL):c.-12T>G rs7907988
NM_001172303.3(MASTL):c.-53G>A rs3824593
NM_001172303.3(MASTL):c.1147C>T (p.Arg383Cys) rs117134003
NM_001172303.3(MASTL):c.985-15T>C rs545742347
NM_001382567.1(STIM1):c.1138-15del rs761654472
NM_001382567.1(STIM1):c.1712T>G (p.Met571Arg)
NM_001382567.1(STIM1):c.1714A>G (p.Ser572Gly)
NM_001382567.1(STIM1):c.1715G>A (p.Ser572Asn)
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2505CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2723G>C rs145580223
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*4045AGT[1] rs71727762
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_002203.4(ITGA2):c.1141G>A (p.Val381Met) rs541732593
NM_002203.4(ITGA2):c.1372C>T (p.Arg458Trp) rs377150294
NM_002203.4(ITGA2):c.1602+3A>G rs201610232
NM_002203.4(ITGA2):c.2099T>C (p.Ile700Thr) rs530127630
NM_002203.4(ITGA2):c.2236-62T>C rs2287871
NM_002203.4(ITGA2):c.3003C>A (p.Asn1001Lys) rs144334272
NM_002473.6(MYH9):c.*1160del rs56058205
NM_002473.6(MYH9):c.2217G>C (p.Ala739=) rs756586731
NM_002473.6(MYH9):c.2442G>A (p.Arg814=) rs113783861
NM_002473.6(MYH9):c.5483+4C>G rs56327920
NM_002473.6(MYH9):c.5593-14G>A rs201676960
NM_002473.6(MYH9):c.5766-3del rs141686520
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002658.6(PLAU):c.*398C>T rs190769030
NM_002658.6(PLAU):c.1048T>C (p.Tyr350His) rs72816325
NM_002658.6(PLAU):c.43G>T (p.Val15Leu) rs2227580
NM_002658.6(PLAU):c.559A>G (p.Ile187Val) rs528761202
NM_002658.6(PLAU):c.830-13T>C rs376665535
NM_005105.5(RBM8A):c.127+21dup
NM_005105.5(RBM8A):c.206-13del
NM_005105.5(RBM8A):c.206-20T>C rs117017431
NM_005373.3(MPL):c.*1220C>T rs6689207
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1566-3del rs780125200
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*936C>T rs56974443
NM_005476.7(GNE):c.1633+17dup
NM_014915.3(ANKRD26):c.-77C>G rs546768605
NM_014915.3(ANKRD26):c.141C>A (p.Leu47=) rs373157833
NM_014915.3(ANKRD26):c.1462+17C>A rs11015496
NM_014915.3(ANKRD26):c.1571A>G (p.His524Arg) rs199656285
NM_014915.3(ANKRD26):c.1590AGA[2] (p.Glu533del) rs138423863
NM_014915.3(ANKRD26):c.1986-3del rs113123391
NM_014915.3(ANKRD26):c.1986-3dup rs113123391
NM_014915.3(ANKRD26):c.531+41C>T rs56325123
NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn) rs61730102
NM_014915.3(ANKRD26):c.948T>C (p.Asp316=) rs569751156
NM_015175.3(NBEAL2):c.*104del rs397708574
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_016363.5(GP6):c.484A>C (p.Arg162=) rs892090
NM_016363.5(GP6):c.576A>G (p.Ser192=) rs1654425
NM_016363.5(GP6):c.709G>A (p.Glu237Lys) rs1654416

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