NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met)
|
rs74988902
|
0.00239
|
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)
|
rs141063159
|
0.00183
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_001382567.1(STIM1):c.2079C>A (p.Gly693=)
|
rs147912041
|
0.00070
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_000419.5(ITGA2B):c.799+15C>T
|
rs374469971
|
0.00061
|
NM_005476.7(GNE):c.1245C>T (p.Gly415=)
|
rs140784655
|
0.00059
|
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
|
rs140091584
|
0.00056
|
NM_005373.3(MPL):c.1570C>T (p.Leu524=)
|
rs146372205
|
0.00055
|
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)
|
rs561818288
|
0.00049
|
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)
|
rs140080199
|
0.00044
|
NM_005373.3(MPL):c.1197G>A (p.Arg399=)
|
rs148945299
|
0.00042
|
NM_005476.7(GNE):c.165-18A>G
|
rs374105190
|
0.00038
|
NM_005476.7(GNE):c.2004C>T (p.Ser668=)
|
rs150045137
|
0.00038
|
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=)
|
rs141497408
|
0.00036
|
NM_005476.7(GNE):c.1509C>G (p.Pro503=)
|
rs141172610
|
0.00036
|
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=)
|
rs139878415
|
0.00031
|
NM_005373.3(MPL):c.1536G>A (p.Leu512=)
|
rs137990502
|
0.00031
|
NM_001382567.1(STIM1):c.114C>G (p.Ala38=)
|
rs150033189
|
0.00029
|
NM_000377.3(WAS):c.1110A>C (p.Pro370=)
|
rs782244198
|
0.00028
|
NM_001382567.1(STIM1):c.386-11T>C
|
rs368922449
|
0.00028
|
NM_000419.5(ITGA2B):c.2449-11C>T
|
rs201702898
|
0.00026
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
NM_005373.3(MPL):c.963G>T (p.Arg321=)
|
rs138636505
|
0.00024
|
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)
|
rs150004498
|
0.00023
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00023
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
0.00021
|
NM_001382567.1(STIM1):c.1128C>T (p.Ala376=)
|
rs200375470
|
0.00020
|
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_005105.5(RBM8A):c.342+19T>C
|
rs200836721
|
0.00018
|
NM_000419.5(ITGA2B):c.1394-14C>T
|
rs368062044
|
0.00016
|
NM_000419.5(ITGA2B):c.2348+15G>A
|
rs200571001
|
0.00016
|
NM_001382567.1(STIM1):c.140-15G>C
|
rs202069849
|
0.00015
|
NM_001382567.1(STIM1):c.1568-9T>C
|
rs201450136
|
0.00015
|
NM_001382567.1(STIM1):c.969+10T>G
|
rs764751709
|
0.00015
|
NM_000419.5(ITGA2B):c.408+16C>T
|
rs377288289
|
0.00014
|
NM_005476.7(GNE):c.21C>T (p.Asn7=)
|
rs774610596
|
0.00014
|
NM_001382567.1(STIM1):c.570G>T (p.Leu190=)
|
rs200233698
|
0.00013
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_001382567.1(STIM1):c.105C>T (p.Ser35=)
|
rs139540641
|
0.00012
|
NM_001382567.1(STIM1):c.792-8C>T
|
rs201395930
|
0.00012
|
NM_005373.3(MPL):c.690+11C>T
|
rs144769485
|
0.00012
|
NM_005476.7(GNE):c.1620T>C (p.Leu540=)
|
rs774849278
|
0.00012
|
NM_005476.7(GNE):c.1634-7G>A
|
rs139442869
|
0.00012
|
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.2334A>G (p.Gln778=)
|
rs117870452
|
0.00011
|
NM_001382567.1(STIM1):c.1634+11G>A
|
rs199732479
|
0.00011
|
NM_001382567.1(STIM1):c.970-15C>G
|
rs188804715
|
0.00011
|
NM_000377.3(WAS):c.351C>T (p.Phe117=)
|
rs143299151
|
0.00009
|
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)
|
rs376560886
|
0.00009
|
NM_001382567.1(STIM1):c.1635-15C>T
|
rs749764733
|
0.00009
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
NM_001382567.1(STIM1):c.774G>T (p.Leu258=)
|
rs140997213
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_005373.3(MPL):c.1803C>T (p.Thr601=)
|
rs140794721
|
0.00009
|
NM_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00009
|
NM_005476.7(GNE):c.616+20G>C
|
rs111358992
|
0.00009
|
NM_005476.7(GNE):c.983-4C>T
|
rs145450498
|
0.00009
|
NM_000419.5(ITGA2B):c.671-15T>C
|
rs200877591
|
0.00008
|
NM_001382567.1(STIM1):c.1848G>A (p.Ala616=)
|
rs201902860
|
0.00008
|
NM_001382567.1(STIM1):c.603G>A (p.Gly201=)
|
rs142843376
|
0.00008
|
NM_001382567.1(STIM1):c.975G>C (p.Arg325=)
|
rs200963440
|
0.00008
|
NM_005373.3(MPL):c.1650C>T (p.Ser550=)
|
rs377715574
|
0.00008
|
NM_005476.7(GNE):c.1412-5C>T
|
rs369078814
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_005105.5(RBM8A):c.265A>G (p.Ile89Val)
|
rs201156815
|
0.00007
|
NM_005373.3(MPL):c.318G>A (p.Pro106=)
|
rs370001905
|
0.00007
|
NM_005476.7(GNE):c.1293T>A (p.Val431=)
|
rs143485388
|
0.00007
|
NM_000377.3(WAS):c.1339-3C>T
|
rs373491815
|
0.00006
|
NM_000419.5(ITGA2B):c.1413C>T (p.Tyr471=)
|
rs78218617
|
0.00006
|
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)
|
rs201119421
|
0.00006
|
NM_001382567.1(STIM1):c.139+6G>A
|
rs200233935
|
0.00006
|
NM_001382567.1(STIM1):c.1474+16dup
|
rs750124776
|
0.00006
|
NM_001382567.1(STIM1):c.1906C>G (p.Pro636Ala)
|
rs139432975
|
0.00006
|
NM_005373.3(MPL):c.1446G>A (p.Arg482=)
|
rs1046680606
|
0.00006
|
NM_005373.3(MPL):c.1542G>A (p.Arg514=)
|
rs367960803
|
0.00006
|
NM_005373.3(MPL):c.1573A>C (p.Arg525=)
|
rs143100182
|
0.00006
|
NM_005476.7(GNE):c.1242T>C (p.Leu414=)
|
rs371881711
|
0.00006
|
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_000419.5(ITGA2B):c.1210+8A>G
|
rs771317292
|
0.00005
|
NM_001382567.1(STIM1):c.872A>G (p.Asn291Ser)
|
rs138848040
|
0.00005
|
NM_005373.3(MPL):c.1002C>T (p.Cys334=)
|
rs141526418
|
0.00005
|
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
|
rs6087
|
0.00005
|
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=)
|
rs367831764
|
0.00004
|
NM_000419.5(ITGA2B):c.1965A>C (p.Leu655=)
|
rs748671094
|
0.00004
|
NM_000419.5(ITGA2B):c.858C>T (p.Val286=)
|
rs376672078
|
0.00004
|
NM_001382567.1(STIM1):c.1425C>T (p.Asp475=)
|
rs200776986
|
0.00004
|
NM_001382567.1(STIM1):c.177G>A (p.Glu59=)
|
rs553909431
|
0.00004
|
NM_001382567.1(STIM1):c.1974A>G (p.Pro658=)
|
rs201051821
|
0.00004
|
NM_001382567.1(STIM1):c.385+16G>A
|
rs766833809
|
0.00004
|
NM_005373.3(MPL):c.1629T>C (p.Leu543=)
|
rs150816330
|
0.00004
|
NM_005476.7(GNE):c.-42-18T>C
|
rs1359152687
|
0.00004
|
NM_005476.7(GNE):c.1020A>G (p.Gln340=)
|
rs747807631
|
0.00004
|
NM_005476.7(GNE):c.1572G>A (p.Ala524=)
|
rs112824871
|
0.00004
|
NM_005476.7(GNE):c.1634-13T>C
|
rs375600956
|
0.00004
|
NM_005476.7(GNE):c.1767A>G (p.Ala589=)
|
rs777310871
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005476.7(GNE):c.726A>G (p.Ser242=)
|
rs763368889
|
0.00004
|
NM_005476.7(GNE):c.765C>T (p.Asp255=)
|
rs775805166
|
0.00004
|
NM_005476.7(GNE):c.828T>C (p.Phe276=)
|
rs770346895
|
0.00004
|
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.594G>A (p.Ala198=)
|
rs376545922
|
0.00003
|
NM_001382567.1(STIM1):c.108G>A (p.Ser36=)
|
rs551284324
|
0.00003
|
NM_001382567.1(STIM1):c.1204C>T (p.Leu402=)
|
rs201091587
|
0.00003
|
NM_001382567.1(STIM1):c.1251C>T (p.Ser417=)
|
rs199782037
|
0.00003
|
NM_001382567.1(STIM1):c.1634+7A>G
|
rs371193534
|
0.00003
|
NM_001382567.1(STIM1):c.271-19G>A
|
rs763590946
|
0.00003
|
NM_001382567.1(STIM1):c.306A>G (p.Thr102=)
|
rs140167452
|
0.00003
|
NM_001382567.1(STIM1):c.393T>C (p.Asn131=)
|
rs764275626
|
0.00003
|
NM_001382567.1(STIM1):c.810G>A (p.Glu270=)
|
rs201765594
|
0.00003
|
NM_005373.3(MPL):c.1665A>G (p.Thr555=)
|
rs981464721
|
0.00003
|
NM_005373.3(MPL):c.978C>T (p.Asp326=)
|
rs202119310
|
0.00003
|
NM_005476.7(GNE):c.1070+7A>G
|
rs149675783
|
0.00003
|
NM_005476.7(GNE):c.1413C>T (p.Gly471=)
|
rs142836733
|
0.00003
|
NM_005476.7(GNE):c.1434A>G (p.Val478=)
|
rs1473072355
|
0.00003
|
NM_005476.7(GNE):c.1634-4G>T
|
rs1021602666
|
0.00003
|
NM_005476.7(GNE):c.2112C>T (p.Pro704=)
|
rs779967033
|
0.00003
|
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)
|
rs1307143057
|
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.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_000419.5(ITGA2B):c.3061-4C>T
|
rs530669664
|
0.00002
|
NM_001382567.1(STIM1):c.1068G>A (p.Glu356=)
|
rs761203064
|
0.00002
|
NM_001382567.1(STIM1):c.1238+9C>T
|
rs375604403
|
0.00002
|
NM_001382567.1(STIM1):c.1599C>T (p.Arg533=)
|
rs377102721
|
0.00002
|
NM_001382567.1(STIM1):c.1656G>A (p.Ser552=)
|
rs148209416
|
0.00002
|
NM_001382567.1(STIM1):c.1773C>T (p.Ile591=)
|
rs1308455316
|
0.00002
|
NM_001382567.1(STIM1):c.270+13A>G
|
rs201780058
|
0.00002
|
NM_001382567.1(STIM1):c.285C>T (p.Asp95=)
|
rs780488492
|
0.00002
|
NM_001382567.1(STIM1):c.738G>A (p.Lys246=)
|
rs536528954
|
0.00002
|
NM_001382567.1(STIM1):c.969+16A>G
|
rs774941610
|
0.00002
|
NM_005373.3(MPL):c.1014G>A (p.Glu338=)
|
rs767497390
|
0.00002
|
NM_005373.3(MPL):c.1134C>T (p.Tyr378=)
|
rs749571171
|
0.00002
|
NM_005373.3(MPL):c.120T>C (p.Cys40=)
|
rs747864027
|
0.00002
|
NM_005373.3(MPL):c.1632G>A (p.Arg544=)
|
rs780927987
|
0.00002
|
NM_005476.7(GNE):c.1030T>C (p.Leu344=)
|
rs746461207
|
0.00002
|
NM_005476.7(GNE):c.1281+19T>C
|
rs1220093810
|
0.00002
|
NM_005476.7(GNE):c.1368T>A (p.Ala456=)
|
rs779157758
|
0.00002
|
NM_005476.7(GNE):c.1674C>T (p.His558=)
|
rs144931111
|
0.00002
|
NM_005476.7(GNE):c.1816+17C>T
|
rs756465454
|
0.00002
|
NM_005476.7(GNE):c.2061C>G (p.Ala687=)
|
rs765296741
|
0.00002
|
NM_005476.7(GNE):c.207C>T (p.Asn69=)
|
rs781586600
|
0.00002
|
NM_005476.7(GNE):c.297T>C (p.Leu99=)
|
rs544304534
|
0.00002
|
NM_005476.7(GNE):c.447C>T (p.Ala149=)
|
rs772851707
|
0.00002
|
NM_005476.7(GNE):c.903C>T (p.Ser301=)
|
rs777440792
|
0.00002
|
NM_000377.3(WAS):c.1255C>A (p.Leu419Met)
|
rs1422863482
|
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.360+8A>G
|
rs1557006508
|
0.00001
|
NM_000377.3(WAS):c.411C>T (p.Phe137=)
|
rs1474269671
|
0.00001
|
NM_000377.3(WAS):c.505+3_505+7dup
|
rs1557006628
|
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.954G>A (p.Pro318=)
|
rs1366022019
|
0.00001
|
NM_000377.3(WAS):c.985C>G (p.Pro329Ala)
|
rs1557007136
|
0.00001
|
NM_001128227.3(GNE):c.12T>C (p.Tyr4=)
|
rs556904933
|
0.00001
|
NM_001128227.3(GNE):c.15T>C (p.Gly5=)
|
rs192260997
|
0.00001
|
NM_001128227.3(GNE):c.51+12G>A
|
rs374490097
|
0.00001
|
NM_001128227.3(GNE):c.51+18C>A
|
rs1370632267
|
0.00001
|
NM_001382567.1(STIM1):c.1071G>A (p.Val357=)
|
rs1288963987
|
0.00001
|
NM_001382567.1(STIM1):c.1089C>T (p.Asn363=)
|
rs376193363
|
0.00001
|
NM_001382567.1(STIM1):c.1125G>T (p.Val375=)
|
rs201975335
|
0.00001
|
NM_001382567.1(STIM1):c.1134G>A (p.Glu378=)
|
rs920883663
|
0.00001
|
NM_001382567.1(STIM1):c.1185C>T (p.His395=)
|
rs1027836784
|
0.00001
|
NM_001382567.1(STIM1):c.1238+10A>C
|
rs201116081
|
0.00001
|
NM_001382567.1(STIM1):c.1239-10C>T
|
rs201644728
|
0.00001
|
NM_001382567.1(STIM1):c.1299C>T (p.Ile433=)
|
rs200738706
|
0.00001
|
NM_001382567.1(STIM1):c.1317C>T (p.Phe439=)
|
rs1179975549
|
0.00001
|
NM_001382567.1(STIM1):c.139+16G>A
|
rs754570282
|
0.00001
|
NM_001382567.1(STIM1):c.1623G>A (p.Leu541=)
|
rs747948099
|
0.00001
|
NM_001382567.1(STIM1):c.1653T>C (p.Asp551=)
|
rs1304754642
|
0.00001
|
NM_001382567.1(STIM1):c.1719T>A (p.Arg573=)
|
rs200164426
|
0.00001
|
NM_001382567.1(STIM1):c.1725A>G (p.Ala575=)
|
rs146393409
|
0.00001
|
NM_001382567.1(STIM1):c.1728C>T (p.Asp576=)
|
rs542778043
|
0.00001
|
NM_001382567.1(STIM1):c.1893C>T (p.Ser631=)
|
rs781756003
|
0.00001
|
NM_001382567.1(STIM1):c.1932T>C (p.Ser644=)
|
rs1367856839
|
0.00001
|
NM_001382567.1(STIM1):c.1935C>T (p.Ser645=)
|
rs766224297
|
0.00001
|
NM_001382567.1(STIM1):c.2142T>C (p.Leu714=)
|
rs199935070
|
0.00001
|
NM_001382567.1(STIM1):c.228C>T (p.Asp76=)
|
rs749540812
|
0.00001
|
NM_001382567.1(STIM1):c.300C>T (p.Asp100=)
|
rs200658405
|
0.00001
|
NM_001382567.1(STIM1):c.348C>T (p.Ser116=)
|
rs200075076
|
0.00001
|
NM_001382567.1(STIM1):c.385+7G>A
|
rs370889167
|
0.00001
|
NM_001382567.1(STIM1):c.399C>T (p.Thr133=)
|
rs199513192
|
0.00001
|
NM_001382567.1(STIM1):c.414A>G (p.Val138=)
|
rs1319501573
|
0.00001
|
NM_001382567.1(STIM1):c.474G>A (p.Gln158=)
|
rs1199018766
|
0.00001
|
NM_001382567.1(STIM1):c.498-4A>C
|
rs977105613
|
0.00001
|
NM_001382567.1(STIM1):c.531T>A (p.Thr177=)
|
rs767768485
|
0.00001
|
NM_001382567.1(STIM1):c.613+11T>A
|
rs1048701700
|
0.00001
|
NM_001382567.1(STIM1):c.660C>T (p.Ile220=)
|
rs200982503
|
0.00001
|
NM_001382567.1(STIM1):c.675C>T (p.Gly225=)
|
rs151061361
|
0.00001
|
NM_001382567.1(STIM1):c.717G>A (p.Glu239=)
|
rs1255140437
|
0.00001
|
NM_001382567.1(STIM1):c.744G>A (p.Leu248=)
|
rs764311095
|
0.00001
|
NM_001382567.1(STIM1):c.909G>A (p.Leu303=)
|
rs1402539076
|
0.00001
|
NM_001382567.1(STIM1):c.912G>C (p.Arg304=)
|
rs533692595
|
0.00001
|
NM_001382567.1(STIM1):c.969+15A>T
|
rs1457105275
|
0.00001
|
NM_001382567.1(STIM1):c.970-16C>A
|
rs201003963
|
0.00001
|
NM_001382567.1(STIM1):c.9A>G (p.Val3=)
|
rs765248656
|
0.00001
|
NM_005373.3(MPL):c.1053C>T (p.Arg351=)
|
rs753608517
|
0.00001
|
NM_005373.3(MPL):c.1119T>C (p.Gly373=)
|
rs748581599
|
0.00001
|
NM_005373.3(MPL):c.1140C>G (p.Gly380=)
|
rs745697567
|
0.00001
|
NM_005373.3(MPL):c.1165+10T>C
|
rs1392500587
|
0.00001
|
NM_005373.3(MPL):c.1165+8C>A
|
rs760520500
|
0.00001
|
NM_005373.3(MPL):c.1166-4G>A
|
rs753315546
|
0.00001
|
NM_005373.3(MPL):c.1242G>A (p.Ser414=)
|
rs544064034
|
0.00001
|
NM_005373.3(MPL):c.1353G>A (p.Leu451=)
|
rs1218597246
|
0.00001
|
NM_005373.3(MPL):c.1443T>C (p.Thr481=)
|
rs769867816
|
0.00001
|
NM_005373.3(MPL):c.1455C>A (p.Thr485=)
|
rs1420201893
|
0.00001
|
NM_005373.3(MPL):c.1468+8A>G
|
rs1221843249
|
0.00001
|
NM_005373.3(MPL):c.1469-10T>C
|
rs756761741
|
0.00001
|
NM_005373.3(MPL):c.1554T>G (p.Pro518=)
|
rs756010427
|
0.00001
|
NM_005373.3(MPL):c.1566-8T>C
|
rs1037232039
|
0.00001
|
NM_005373.3(MPL):c.1605G>T (p.Leu535=)
|
rs371286903
|
0.00001
|
NM_005373.3(MPL):c.1704T>C (p.Leu568=)
|
rs1428589548
|
0.00001
|
NM_005373.3(MPL):c.1731G>A (p.Arg577=)
|
rs1297298234
|
0.00001
|
NM_005373.3(MPL):c.174G>A (p.Ala58=)
|
rs141077413
|
0.00001
|
NM_005373.3(MPL):c.1773C>T (p.Tyr591=)
|
rs752177268
|
0.00001
|
NM_005373.3(MPL):c.231C>T (p.Cys77=)
|
rs747378368
|
0.00001
|
NM_005373.3(MPL):c.237G>C (p.Leu79=)
|
rs769101640
|
0.00001
|
NM_005373.3(MPL):c.273C>T (p.Tyr91=)
|
rs759361904
|
0.00001
|
NM_005373.3(MPL):c.391+7G>A
|
rs201738900
|
0.00001
|
NM_005373.3(MPL):c.468G>A (p.Glu156=)
|
rs747175671
|
0.00001
|
NM_005373.3(MPL):c.513T>C (p.Tyr171=)
|
rs971985422
|
0.00001
|
NM_005373.3(MPL):c.519C>T (p.Pro173=)
|
rs1384608430
|
0.00001
|
NM_005373.3(MPL):c.534C>T (p.Asn178=)
|
rs1473089822
|
0.00001
|
NM_005373.3(MPL):c.618G>C (p.Leu206=)
|
rs1334230054
|
0.00001
|
NM_005373.3(MPL):c.750C>T (p.Asn250=)
|
rs753703546
|
0.00001
|
NM_005373.3(MPL):c.795C>T (p.Leu265=)
|
rs774771300
|
0.00001
|
NM_005373.3(MPL):c.840G>A (p.Leu280=)
|
rs1313119276
|
0.00001
|
NM_005373.3(MPL):c.853+10C>A
|
rs1341584081
|
0.00001
|
NM_005373.3(MPL):c.854-10T>C
|
rs771241328
|
0.00001
|
NM_005373.3(MPL):c.936A>G (p.Gln312=)
|
rs1647022428
|
0.00001
|
NM_005373.3(MPL):c.972C>T (p.Pro324=)
|
rs1010774862
|
0.00001
|
NM_005373.3(MPL):c.984C>T (p.Tyr328=)
|
rs1174825503
|
0.00001
|
NM_005476.7(GNE):c.1008T>C (p.Asp336=)
|
rs762803815
|
0.00001
|
NM_005476.7(GNE):c.1017C>A (p.Thr339=)
|
rs769534184
|
0.00001
|
NM_005476.7(GNE):c.1131C>T (p.Ile377=)
|
rs764041731
|
0.00001
|
NM_005476.7(GNE):c.1251G>A (p.Thr417=)
|
rs758086020
|
0.00001
|
NM_005476.7(GNE):c.1287A>G (p.Glu429=)
|
rs377382722
|
0.00001
|
NM_005476.7(GNE):c.1317T>C (p.Pro439=)
|
rs773336897
|
0.00001
|
NM_005476.7(GNE):c.1411+7T>C
|
rs1828696327
|
0.00001
|
NM_005476.7(GNE):c.1464A>G (p.Ser488=)
|
rs771209350
|
0.00001
|
NM_005476.7(GNE):c.1633+7G>A
|
rs773608353
|
0.00001
|
NM_005476.7(GNE):c.1633+8G>A
|
rs1028353184
|
0.00001
|
NM_005476.7(GNE):c.1634-8C>T
|
rs756876449
|
0.00001
|
NM_005476.7(GNE):c.1638C>T (p.Ile546=)
|
rs147768211
|
0.00001
|
NM_005476.7(GNE):c.1666T>C (p.Leu556=)
|
rs765440649
|
0.00001
|
NM_005476.7(GNE):c.1716G>A (p.Val572=)
|
rs1294027346
|
0.00001
|
NM_005476.7(GNE):c.1806G>A (p.Lys602=)
|
rs1248336263
|
0.00001
|
NM_005476.7(GNE):c.1812T>C (p.His604=)
|
rs541458680
|
0.00001
|
NM_005476.7(GNE):c.1893G>A (p.Ala631=)
|
rs770928991
|
0.00001
|
NM_005476.7(GNE):c.1933+7A>T
|
rs368100600
|
0.00001
|
NM_005476.7(GNE):c.1933+8T>C
|
rs768321445
|
0.00001
|
NM_005476.7(GNE):c.1998C>T (p.Ile666=)
|
rs932366819
|
0.00001
|
NM_005476.7(GNE):c.2043C>T (p.Asp681=)
|
rs568010488
|
0.00001
|
NM_005476.7(GNE):c.2070C>T (p.Ser690=)
|
rs776582567
|
0.00001
|
NM_005476.7(GNE):c.2073G>T (p.Val691=)
|
rs760445653
|
0.00001
|
NM_005476.7(GNE):c.2079C>T (p.Asp693=)
|
rs548244588
|
0.00001
|
NM_005476.7(GNE):c.2082G>C (p.Val694=)
|
rs771658438
|
0.00001
|
NM_005476.7(GNE):c.2097G>A (p.Ser699=)
|
rs200490682
|
0.00001
|
NM_005476.7(GNE):c.2119C>T (p.Leu707=)
|
rs750554841
|
0.00001
|
NM_005476.7(GNE):c.2151A>G (p.Thr717=)
|
rs760226053
|
0.00001
|
NM_005476.7(GNE):c.240T>C (p.Asp80=)
|
rs780405231
|
0.00001
|
NM_005476.7(GNE):c.39T>C (p.Cys13=)
|
rs776485443
|
0.00001
|
NM_005476.7(GNE):c.462T>A (p.Ala154=)
|
rs778963689
|
0.00001
|
NM_005476.7(GNE):c.471T>C (p.His157=)
|
rs757524235
|
0.00001
|
NM_005476.7(GNE):c.616+13G>C
|
rs1383533734
|
0.00001
|
NM_005476.7(GNE):c.616+18T>C
|
rs906334550
|
0.00001
|
NM_005476.7(GNE):c.616+7A>G
|
rs761273110
|
0.00001
|
NM_005476.7(GNE):c.741C>T (p.Thr247=)
|
rs770081028
|
0.00001
|
NM_005476.7(GNE):c.945G>A (p.Val315=)
|
rs371362663
|
0.00001
|
NM_005476.7(GNE):c.975A>G (p.Arg325=)
|
rs758966843
|
0.00001
|
NM_005476.7(GNE):c.999T>C (p.His333=)
|
rs1344485866
|
0.00001
|
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
|
|
|
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
|
|
|
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
|
|
|
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.1053A>C (p.Pro351=)
|
|
|
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
|
|
|
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
|
|
|
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
|
|
|
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
|
|
|
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
|
|
|
NM_000377.3(WAS):c.1080A>C (p.Pro360=)
|
rs1409607754
|
|
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
|
|
|
NM_000377.3(WAS):c.1086A>G (p.Pro362=)
|
rs1304836055
|
|
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
|
|
|
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.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.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.1140A>C (p.Pro380=)
|
|
|
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
|
|
|
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
|
|
|
NM_000377.3(WAS):c.1197A>G (p.Pro399=)
|
rs1602179584
|
|
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
|
|
|
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
|
|
|
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
|
|
|
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
|
|
|
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
|
|
|
NM_000377.3(WAS):c.132+14C>G
|
|
|
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
|
|
|
NM_000377.3(WAS):c.133-15G>A
|
|
|
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.1338+13A>G
|
|
|
NM_000377.3(WAS):c.1338+13A>T
|
|
|
NM_000377.3(WAS):c.1338+9A>C
|
|
|
NM_000377.3(WAS):c.1339-6C>G
|
rs1207805593
|
|
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
|
|
|
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.138G>A (p.Leu46=)
|
|
|
NM_000377.3(WAS):c.141C>T (p.Ala47=)
|
rs1602176588
|
|
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
|
|
|
NM_000377.3(WAS):c.1453+12C>T
|
|
|
NM_000377.3(WAS):c.1453+20G>C
|
|
|
NM_000377.3(WAS):c.1453+9A>C
|
|
|
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.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.1494T>C (p.Asp498=)
|
|
|
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
|
|
|
NM_000377.3(WAS):c.150T>A (p.Val50=)
|
|
|
NM_000377.3(WAS):c.159G>A (p.Leu53=)
|
|
|
NM_000377.3(WAS):c.168G>A (p.Ala56=)
|
|
|
NM_000377.3(WAS):c.189C>T (p.His63=)
|
|
|
NM_000377.3(WAS):c.204T>C (p.His68=)
|
|
|
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.243G>A (p.Lys81=)
|
|
|
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+14C>G
|
|
|
NM_000377.3(WAS):c.273+17C>T
|
|
|
NM_000377.3(WAS):c.273+19A>G
|
|
|
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.274-20C>A
|
|
|
NM_000377.3(WAS):c.283C>T (p.Leu95=)
|
|
|
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.348C>G (p.Thr116=)
|
|
|
NM_000377.3(WAS):c.360+13C>T
|
|
|
NM_000377.3(WAS):c.361-10G>A
|
|
|
NM_000377.3(WAS):c.361-12A>G
|
rs781885441
|
|
NM_000377.3(WAS):c.361-8A>T
|
|
|
NM_000377.3(WAS):c.369A>G (p.Gln123=)
|
|
|
NM_000377.3(WAS):c.372G>A (p.Ala124=)
|
|
|
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
|
|
|
NM_000377.3(WAS):c.396C>T (p.Asp132=)
|
|
|
NM_000377.3(WAS):c.405G>A (p.Gln135=)
|
|
|
NM_000377.3(WAS):c.438A>G (p.Gln146=)
|
|
|
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
|
|
|
NM_000377.3(WAS):c.463+10C>T
|
|
|
NM_000377.3(WAS):c.463+12A>G
|
|
|
NM_000377.3(WAS):c.464-13C>T
|
|
|
NM_000377.3(WAS):c.464-9T>C
|
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
NM_000377.3(WAS):c.498C>G (p.Ala166=)
|
rs2147264155
|
|
NM_000377.3(WAS):c.505+10C>A
|
|
|
NM_000377.3(WAS):c.505+20T>C
|
|
|
NM_000377.3(WAS):c.506-10A>G
|
|
|
NM_000377.3(WAS):c.506-15A>G
|
|
|
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
|
|
|
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.540T>C (p.His180=)
|
|
|
NM_000377.3(WAS):c.559+14_559+32del
|
rs782477646
|
|
NM_000377.3(WAS):c.559+6_559+13dup
|
|
|
NM_000377.3(WAS):c.560-6C>T
|
|
|
NM_000377.3(WAS):c.570G>A (p.Val190=)
|
|
|
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.603C>T (p.Asp201=)
|
rs2062421636
|
|
NM_000377.3(WAS):c.624G>A (p.Thr208=)
|
rs2147264874
|
|
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
|
|
|
NM_000377.3(WAS):c.642G>C (p.Gly214=)
|
|
|
NM_000377.3(WAS):c.663C>T (p.Ser221=)
|
|
|
NM_000377.3(WAS):c.669T>G (p.Ala223=)
|
rs928562174
|
|
NM_000377.3(WAS):c.675G>A (p.Lys225=)
|
|
|
NM_000377.3(WAS):c.690G>A (p.Lys230=)
|
|
|
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
|
|
|
NM_000377.3(WAS):c.735-10C>A
|
|
|
NM_000377.3(WAS):c.735-16_735-15insGT
|
|
|
NM_000377.3(WAS):c.735-5C>T
|
|
|
NM_000377.3(WAS):c.744C>T (p.Ser248=)
|
|
|
NM_000377.3(WAS):c.747C>T (p.His249=)
|
|
|
NM_000377.3(WAS):c.75C>T (p.Thr25=)
|
|
|
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.778-11C>T
|
|
|
NM_000377.3(WAS):c.778-14T>C
|
|
|
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.795A>C (p.Pro265=)
|
|
|
NM_000377.3(WAS):c.810G>T (p.Leu270=)
|
|
|
NM_000377.3(WAS):c.819G>A (p.Arg273=)
|
|
|
NM_000377.3(WAS):c.831C>T (p.Ser277=)
|
|
|
NM_000377.3(WAS):c.834G>A (p.Glu278=)
|
|
|
NM_000377.3(WAS):c.846C>T (p.Thr282=)
|
|
|
NM_000377.3(WAS):c.852C>G (p.Ala284=)
|
|
|
NM_000377.3(WAS):c.858C>T (p.Thr286=)
|
rs2147266003
|
|
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+20C>T
|
|
|
NM_000377.3(WAS):c.931+7C>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.987C>T (p.Pro329=)
|
|
|
NM_000377.3(WAS):c.996G>C (p.Val332=)
|
|
|
NM_000377.3(WAS):c.996G>T (p.Val332=)
|
|
|
NM_000377.3(WAS):c.999G>C (p.Gly333=)
|
|
|
NM_000419.5(ITGA2B):c.1110G>A (p.Ala370=)
|
|
|
NM_000419.5(ITGA2B):c.1210+19C>T
|
|
|
NM_000419.5(ITGA2B):c.1210+9del
|
|
|
NM_000419.5(ITGA2B):c.1211-10C>T
|
|
|
NM_000419.5(ITGA2B):c.1233C>T (p.Tyr411=)
|
|
|
NM_000419.5(ITGA2B):c.1266G>A (p.Val422=)
|
|
|
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met)
|
rs372294932
|
|
NM_000419.5(ITGA2B):c.1422C>T (p.Asn474=)
|
|
|
NM_000419.5(ITGA2B):c.1439+20G>A
|
|
|
NM_000419.5(ITGA2B):c.1440-20C>G
|
|
|
NM_000419.5(ITGA2B):c.1544+18A>G
|
|
|
NM_000419.5(ITGA2B):c.1545-17C>A
|
|
|
NM_000419.5(ITGA2B):c.1600+15G>T
|
|
|
NM_000419.5(ITGA2B):c.1601-14G>C
|
|
|
NM_000419.5(ITGA2B):c.1627C>A (p.Arg543=)
|
|
|
NM_000419.5(ITGA2B):c.1632G>A (p.Gln544=)
|
|
|
NM_000419.5(ITGA2B):c.1648C>A (p.Arg550=)
|
|
|
NM_000419.5(ITGA2B):c.1707C>T (p.Gly569=)
|
|
|
NM_000419.5(ITGA2B):c.1716C>T (p.His572=)
|
|
|
NM_000419.5(ITGA2B):c.1752+11G>A
|
|
|
NM_000419.5(ITGA2B):c.1752+4C>T
|
|
|
NM_000419.5(ITGA2B):c.1753-8del
|
|
|
NM_000419.5(ITGA2B):c.1770G>A (p.Arg590=)
|
|
|
NM_000419.5(ITGA2B):c.1878+17A>G
|
|
|
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+8G>C
|
|
|
NM_000419.5(ITGA2B):c.188+8del
|
rs560275529
|
|
NM_000419.5(ITGA2B):c.189-7T>A
|
|
|
NM_000419.5(ITGA2B):c.1923C>T (p.Pro641=)
|
|
|
NM_000419.5(ITGA2B):c.1944C>T (p.Ser648=)
|
|
|
NM_000419.5(ITGA2B):c.1947-12_1947-11del
|
|
|
NM_000419.5(ITGA2B):c.2001C>T (p.Asp667=)
|
|
|
NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)
|
|
|
NM_000419.5(ITGA2B):c.2052G>C (p.Leu684=)
|
|
|
NM_000419.5(ITGA2B):c.2061C>T (p.Gly687=)
|
|
|
NM_000419.5(ITGA2B):c.2064C>T (p.Ala688=)
|
|
|
NM_000419.5(ITGA2B):c.2082A>G (p.Leu694=)
|
|
|
NM_000419.5(ITGA2B):c.2094+7C>T
|
|
|
NM_000419.5(ITGA2B):c.2095-8T>C
|
|
|
NM_000419.5(ITGA2B):c.2139C>T (p.Thr713=)
|
rs1598378000
|
|
NM_000419.5(ITGA2B):c.2187+20G>C
|
|
|
NM_000419.5(ITGA2B):c.2188-7C>T
|
|
|
NM_000419.5(ITGA2B):c.2199G>A (p.Ala733=)
|
|
|
NM_000419.5(ITGA2B):c.2348+14G>A
|
|
|
NM_000419.5(ITGA2B):c.2348+17G>T
|
|
|
NM_000419.5(ITGA2B):c.2368C>T (p.Leu790=)
|
|
|
NM_000419.5(ITGA2B):c.2448+16G>A
|
|
|
NM_000419.5(ITGA2B):c.2448+17C>T
|
|
|
NM_000419.5(ITGA2B):c.2520C>T (p.Pro840=)
|
|
|
NM_000419.5(ITGA2B):c.2562C>A (p.Gly854=)
|
|
|
NM_000419.5(ITGA2B):c.2565T>C (p.Leu855=)
|
|
|
NM_000419.5(ITGA2B):c.258G>C (p.Leu86=)
|
|
|
NM_000419.5(ITGA2B):c.2602-17C>G
|
|
|
NM_000419.5(ITGA2B):c.2613G>A (p.Gly871=)
|
|
|
NM_000419.5(ITGA2B):c.2616G>A (p.Leu872=)
|
|
|
NM_000419.5(ITGA2B):c.2646G>A (p.Pro882=)
|
|
|
NM_000419.5(ITGA2B):c.2685A>G (p.Pro895=)
|
|
|
NM_000419.5(ITGA2B):c.2691C>T (p.Pro897=)
|
|
|
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.2742G>A (p.Ala914=)
|
|
|
NM_000419.5(ITGA2B):c.2772G>A (p.Gln924=)
|
|
|
NM_000419.5(ITGA2B):c.2817C>T (p.Phe939=)
|
|
|
NM_000419.5(ITGA2B):c.2841+1GTGGG[3]
|
|
|
NM_000419.5(ITGA2B):c.2943+11G>A
|
|
|
NM_000419.5(ITGA2B):c.2943+9G>A
|
|
|
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.2979G>A (p.Arg993=)
|
|
|
NM_000419.5(ITGA2B):c.3000G>C (p.Val1000=)
|
|
|
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.3061-13C>T
|
|
|
NM_000419.5(ITGA2B):c.3061-5C>T
|
|
|
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.351C>T (p.Thr117=)
|
|
|
NM_000419.5(ITGA2B):c.378G>A (p.Ala126=)
|
|
|
NM_000419.5(ITGA2B):c.408+11C>T
|
|
|
NM_000419.5(ITGA2B):c.408+7C>T
|
|
|
NM_000419.5(ITGA2B):c.441A>G (p.Leu147=)
|
|
|
NM_000419.5(ITGA2B):c.513C>G (p.Arg171=)
|
|
|
NM_000419.5(ITGA2B):c.574+15C>T
|
|
|
NM_000419.5(ITGA2B):c.574+20T>C
|
|
|
NM_000419.5(ITGA2B):c.588T>C (p.Arg196=)
|
|
|
NM_000419.5(ITGA2B):c.670+15G>T
|
|
|
NM_000419.5(ITGA2B):c.671-10C>G
|
|
|
NM_000419.5(ITGA2B):c.730T>C (p.Leu244=)
|
|
|
NM_000419.5(ITGA2B):c.786C>T (p.Phe262=)
|
|
|
NM_000419.5(ITGA2B):c.799+20C>T
|
|
|
NM_000419.5(ITGA2B):c.804C>T (p.Tyr268=)
|
|
|
NM_000419.5(ITGA2B):c.891+14C>G
|
|
|
NM_000419.5(ITGA2B):c.891+16A>C
|
|
|
NM_000419.5(ITGA2B):c.892-13G>A
|
|
|
NM_000419.5(ITGA2B):c.892-20C>T
|
|
|
NM_000419.5(ITGA2B):c.946-12C>T
|
|
|
NM_000419.5(ITGA2B):c.966T>C (p.His322=)
|
|
|
NM_000419.5(ITGA2B):c.978C>T (p.Val326=)
|
|
|
NM_000419.5(ITGA2B):c.998+15G>T
|
|
|
NM_000419.5(ITGA2B):c.998+19C>T
|
|
|
NM_000419.5(ITGA2B):c.998+8G>C
|
|
|
NM_001128227.3(GNE):c.18T>C (p.Tyr6=)
|
rs200763627
|
|
NM_001128227.3(GNE):c.24G>A (p.Gln8=)
|
rs190315029
|
|
NM_001128227.3(GNE):c.27G>A (p.Arg9=)
|
|
|
NM_001128227.3(GNE):c.30G>A (p.Glu10=)
|
rs780649483
|
|
NM_001128227.3(GNE):c.39T>C (p.Phe13=)
|
rs2133208583
|
|
NM_001128227.3(GNE):c.48T>A (p.Pro16=)
|
|
|
NM_001128227.3(GNE):c.51+10T>G
|
rs2133208536
|
|
NM_001128227.3(GNE):c.51+11C>T
|
|
|
NM_001128227.3(GNE):c.51+12G>C
|
|
|
NM_001128227.3(GNE):c.51+9T>C
|
rs2133208540
|
|
NM_001128227.3(GNE):c.57C>G (p.Leu19=)
|
rs1830028025
|
|
NM_001128227.3(GNE):c.60T>C (p.Tyr20=)
|
rs2133126743
|
|
NM_001128227.3(GNE):c.69C>T (p.Asn23=)
|
rs1158058299
|
|
NM_001128227.3(GNE):c.72C>G (p.Leu24=)
|
rs1191809976
|
|
NM_001128227.3(GNE):c.75A>G (p.Ser25=)
|
|
|
NM_001128227.3(GNE):c.78A>G (p.Lys26=)
|
|
|
NM_001382567.1(STIM1):c.1003C>T (p.Leu335=)
|
rs202060449
|
|
NM_001382567.1(STIM1):c.108G>C (p.Ser36=)
|
rs551284324
|
|
NM_001382567.1(STIM1):c.1119G>C (p.Leu373=)
|
|
|
NM_001382567.1(STIM1):c.1119G>T (p.Leu373=)
|
|
|
NM_001382567.1(STIM1):c.1122G>A (p.Leu374=)
|
|
|
NM_001382567.1(STIM1):c.1137+11C>G
|
|
|
NM_001382567.1(STIM1):c.1137+13C>T
|
rs199507032
|
|
NM_001382567.1(STIM1):c.1137+14T>G
|
|
|
NM_001382567.1(STIM1):c.1137+18A>G
|
|
|
NM_001382567.1(STIM1):c.1138-11C>T
|
rs2094472695
|
|
NM_001382567.1(STIM1):c.1138-14C>A
|
|
|
NM_001382567.1(STIM1):c.1138-15dup
|
|
|
NM_001382567.1(STIM1):c.1138-16G>A
|
rs2133223879
|
|
NM_001382567.1(STIM1):c.1138-4G>A
|
rs1229330873
|
|
NM_001382567.1(STIM1):c.1138-8C>T
|
rs750360122
|
|
NM_001382567.1(STIM1):c.1203C>G (p.Ser401=)
|
rs2133224307
|
|
NM_001382567.1(STIM1):c.1221T>C (p.His407=)
|
rs2133224417
|
|
NM_001382567.1(STIM1):c.1230A>G (p.Leu410=)
|
rs200232554
|
|
NM_001382567.1(STIM1):c.1239-10_1239-9del
|
|
|
NM_001382567.1(STIM1):c.1239-17C>G
|
rs2094474498
|
|
NM_001382567.1(STIM1):c.1239-20T>A
|
rs2133225683
|
|
NM_001382567.1(STIM1):c.1239-4del
|
rs2133225817
|
|
NM_001382567.1(STIM1):c.1239-6C>T
|
rs2133225807
|
|
NM_001382567.1(STIM1):c.1239-8G>A
|
|
|
NM_001382567.1(STIM1):c.1246C>T (p.Leu416=)
|
rs1198313077
|
|
NM_001382567.1(STIM1):c.1272G>A (p.Arg424=)
|
rs2133225953
|
|
NM_001382567.1(STIM1):c.129C>T (p.Ser43=)
|
|
|
NM_001382567.1(STIM1):c.1347A>C (p.Ser449=)
|
rs765057580
|
|
NM_001382567.1(STIM1):c.139+13T>A
|
rs2135171514
|
|
NM_001382567.1(STIM1):c.139+7C>A
|
rs2090371877
|
|
NM_001382567.1(STIM1):c.140-16T>G
|
|
|
NM_001382567.1(STIM1):c.140-5C>T
|
|
|
NM_001382567.1(STIM1):c.140-9C>T
|
|
|
NM_001382567.1(STIM1):c.1428C>T (p.Asp476=)
|
rs776633274
|
|
NM_001382567.1(STIM1):c.1461C>G (p.Pro487=)
|
rs751169800
|
|
NM_001382567.1(STIM1):c.1461C>T (p.Pro487=)
|
rs751169800
|
|
NM_001382567.1(STIM1):c.1474+17C>T
|
|
|
NM_001382567.1(STIM1):c.1474+17del
|
|
|
NM_001382567.1(STIM1):c.1474+20G>A
|
|
|
NM_001382567.1(STIM1):c.1568-10C>T
|
|
|
NM_001382567.1(STIM1):c.1568-12T>C
|
rs2133240089
|
|
NM_001382567.1(STIM1):c.1568-13A>T
|
|
|
NM_001382567.1(STIM1):c.1568-7C>G
|
rs1234433480
|
|
NM_001382567.1(STIM1):c.1581G>A (p.Gln527=)
|
|
|
NM_001382567.1(STIM1):c.1593G>A (p.Arg531=)
|
rs765806444
|
|
NM_001382567.1(STIM1):c.15C>T (p.Val5=)
|
|
|
NM_001382567.1(STIM1):c.1605G>A (p.Thr535=)
|
|
|
NM_001382567.1(STIM1):c.1620C>G (p.Gly540=)
|
|
|
NM_001382567.1(STIM1):c.1620C>T (p.Gly540=)
|
|
|
NM_001382567.1(STIM1):c.1634+13C>A
|
|
|
NM_001382567.1(STIM1):c.1635-20C>G
|
|
|
NM_001382567.1(STIM1):c.1650C>T (p.Ser550=)
|
|
|
NM_001382567.1(STIM1):c.1722T>C (p.Ala574=)
|
rs1007050130
|
|
NM_001382567.1(STIM1):c.1737C>A (p.Leu579=)
|
rs2133263867
|
|
NM_001382567.1(STIM1):c.1749T>G (p.Thr583=)
|
|
|
NM_001382567.1(STIM1):c.1767G>A (p.Arg589=)
|
|
|
NM_001382567.1(STIM1):c.1779G>A (p.Gly593=)
|
|
|
NM_001382567.1(STIM1):c.1779G>T (p.Gly593=)
|
|
|
NM_001382567.1(STIM1):c.1785C>T (p.His595=)
|
rs1590703370
|
|
NM_001382567.1(STIM1):c.1791G>T (p.Gly597=)
|
|
|
NM_001382567.1(STIM1):c.1809G>A (p.Leu603=)
|
|
|
NM_001382567.1(STIM1):c.1812T>C (p.Pro604=)
|
rs200693717
|
|
NM_001382567.1(STIM1):c.1827G>C (p.Leu609=)
|
|
|
NM_001382567.1(STIM1):c.1872C>T (p.Ala624=)
|
|
|
NM_001382567.1(STIM1):c.1879C>T (p.Leu627=)
|
|
|
NM_001382567.1(STIM1):c.1899A>G (p.Ser633=)
|
|
|
NM_001382567.1(STIM1):c.192C>T (p.Ser64=)
|
rs200345567
|
|
NM_001382567.1(STIM1):c.1947C>T (p.Ser649=)
|
rs1590703531
|
|
NM_001382567.1(STIM1):c.195C>T (p.Phe65=)
|
|
|
NM_001382567.1(STIM1):c.1980A>G (p.Pro660=)
|
|
|
NM_001382567.1(STIM1):c.1999C>T (p.Leu667=)
|
|
|
NM_001382567.1(STIM1):c.2013A>G (p.Arg671=)
|
|
|
NM_001382567.1(STIM1):c.2049T>C (p.Ala683=)
|
|
|
NM_001382567.1(STIM1):c.2064T>C (p.Asp688=)
|
|
|
NM_001382567.1(STIM1):c.2079C>T (p.Gly693=)
|
rs147912041
|
|
NM_001382567.1(STIM1):c.2100A>G (p.Pro700=)
|
rs754273677
|
|
NM_001382567.1(STIM1):c.2130T>C (p.Phe710=)
|
rs1554972256
|
|
NM_001382567.1(STIM1):c.2142T>A (p.Leu714=)
|
rs199935070
|
|
NM_001382567.1(STIM1):c.240T>C (p.Asn80=)
|
|
|
NM_001382567.1(STIM1):c.246T>C (p.Asp82=)
|
|
|
NM_001382567.1(STIM1):c.270+11C>T
|
|
|
NM_001382567.1(STIM1):c.270+12C>T
|
|
|
NM_001382567.1(STIM1):c.270+19C>T
|
|
|
NM_001382567.1(STIM1):c.271-11T>C
|
|
|
NM_001382567.1(STIM1):c.271-19G>C
|
|
|
NM_001382567.1(STIM1):c.271-3034_271-3023del
|
|
|
NM_001382567.1(STIM1):c.297T>C (p.His99=)
|
|
|
NM_001382567.1(STIM1):c.333G>A (p.Glu111=)
|
|
|
NM_001382567.1(STIM1):c.339G>A (p.Lys113=)
|
|
|
NM_001382567.1(STIM1):c.342C>T (p.Leu114=)
|
|
|
NM_001382567.1(STIM1):c.345C>T (p.Ile115=)
|
rs770736310
|
|
NM_001382567.1(STIM1):c.354G>A (p.Glu118=)
|
|
|
NM_001382567.1(STIM1):c.360G>A (p.Leu120=)
|
|
|
NM_001382567.1(STIM1):c.375G>A (p.Lys125=)
|
|
|
NM_001382567.1(STIM1):c.381A>G (p.Ser127=)
|
|
|
NM_001382567.1(STIM1):c.385+20T>G
|
rs2136019322
|
|
NM_001382567.1(STIM1):c.385+7G>T
|
|
|
NM_001382567.1(STIM1):c.386-17C>G
|
|
|
NM_001382567.1(STIM1):c.386-18G>T
|
|
|
NM_001382567.1(STIM1):c.408G>A (p.Glu136=)
|
rs200648767
|
|
NM_001382567.1(STIM1):c.438G>A (p.Glu146=)
|
|
|
NM_001382567.1(STIM1):c.469C>T (p.Leu157=)
|
rs1554968984
|
|
NM_001382567.1(STIM1):c.495A>C (p.Pro165=)
|
|
|
NM_001382567.1(STIM1):c.497+16G>A
|
|
|
NM_001382567.1(STIM1):c.497+17G>A
|
rs200086415
|
|
NM_001382567.1(STIM1):c.497+17G>T
|
|
|
NM_001382567.1(STIM1):c.498-14C>G
|
|
|
NM_001382567.1(STIM1):c.498-15T>C
|
|
|
NM_001382567.1(STIM1):c.498-16C>G
|
|
|
NM_001382567.1(STIM1):c.498-18T>A
|
|
|
NM_001382567.1(STIM1):c.498-6C>T
|
|
|
NM_001382567.1(STIM1):c.513C>T (p.Asn171=)
|
rs2133104522
|
|
NM_001382567.1(STIM1):c.516C>G (p.Thr172=)
|
rs2133104553
|
|
NM_001382567.1(STIM1):c.519C>A (p.Thr173=)
|
rs768915274
|
|
NM_001382567.1(STIM1):c.537G>A (p.Leu179=)
|
|
|
NM_001382567.1(STIM1):c.546A>C (p.Thr182=)
|
rs2133104739
|
|
NM_001382567.1(STIM1):c.549C>T (p.Asp183=)
|
rs1590681707
|
|
NM_001382567.1(STIM1):c.54C>T (p.His18=)
|
rs2135170406
|
|
NM_001382567.1(STIM1):c.614-11CT[2]
|
|
|
NM_001382567.1(STIM1):c.614-20T>C
|
|
|
NM_001382567.1(STIM1):c.614-20T>G
|
|
|
NM_001382567.1(STIM1):c.614-4G>T
|
rs2133161164
|
|
NM_001382567.1(STIM1):c.630C>T (p.His210=)
|
rs199743104
|
|
NM_001382567.1(STIM1):c.660C>A (p.Ile220=)
|
rs200982503
|
|
NM_001382567.1(STIM1):c.693T>C (p.Tyr231=)
|
|
|
NM_001382567.1(STIM1):c.699G>A (p.Gln233=)
|
|
|
NM_001382567.1(STIM1):c.69C>T (p.Leu23=)
|
rs779453226
|
|
NM_001382567.1(STIM1):c.702C>T (p.Asn234=)
|
|
|
NM_001382567.1(STIM1):c.729G>A (p.Lys243=)
|
|
|
NM_001382567.1(STIM1):c.750G>T (p.Gly250=)
|
|
|
NM_001382567.1(STIM1):c.791+15T>G
|
|
|
NM_001382567.1(STIM1):c.792-3dup
|
rs764247879
|
|
NM_001382567.1(STIM1):c.792-4C>A
|
rs200996329
|
|
NM_001382567.1(STIM1):c.792-4C>G
|
rs200996329
|
|
NM_001382567.1(STIM1):c.792-4C>T
|
rs200996329
|
|
NM_001382567.1(STIM1):c.792-8C>A
|
rs201395930
|
|
NM_001382567.1(STIM1):c.792-9C>A
|
rs200264068
|
|
NM_001382567.1(STIM1):c.792-9C>T
|
|
|
NM_001382567.1(STIM1):c.801G>A (p.Lys267=)
|
|
|
NM_001382567.1(STIM1):c.831G>T (p.Val277=)
|
|
|
NM_001382567.1(STIM1):c.840C>G (p.Val280=)
|
rs2133185849
|
|
NM_001382567.1(STIM1):c.843T>C (p.His281=)
|
rs760049621
|
|
NM_001382567.1(STIM1):c.846G>C (p.Leu282=)
|
|
|
NM_001382567.1(STIM1):c.870C>T (p.Ile290=)
|
|
|
NM_001382567.1(STIM1):c.921T>C (p.Thr307=)
|
rs2133186424
|
|
NM_001382567.1(STIM1):c.954G>A (p.Glu318=)
|
|
|
NM_001382567.1(STIM1):c.969+7G>T
|
|
|
NM_001382567.1(STIM1):c.969+9G>A
|
|
|
NM_001382567.1(STIM1):c.970-19C>T
|
|
|
NM_001382567.1(STIM1):c.970-6G>T
|
|
|
NM_001382567.1(STIM1):c.982T>C (p.Leu328=)
|
rs2133220776
|
|
NM_005105.5(RBM8A):c.127+19G>A
|
|
|
NM_005105.5(RBM8A):c.128-17G>C
|
|
|
NM_005105.5(RBM8A):c.128-7C>T
|
rs190827695
|
|
NM_005105.5(RBM8A):c.138C>T (p.Ser46=)
|
|
|
NM_005105.5(RBM8A):c.177G>A (p.Gln59=)
|
|
|
NM_005105.5(RBM8A):c.206-14C>G
|
|
|
NM_005105.5(RBM8A):c.206-18C>G
|
|
|
NM_005105.5(RBM8A):c.255C>T (p.Thr85=)
|
|
|
NM_005105.5(RBM8A):c.279C>T (p.Phe93=)
|
|
|
NM_005105.5(RBM8A):c.342+8_342+11del
|
|
|
NM_005105.5(RBM8A):c.343-13T>C
|
|
|
NM_005105.5(RBM8A):c.343-17C>T
|
|
|
NM_005105.5(RBM8A):c.343-19G>C
|
|
|
NM_005105.5(RBM8A):c.345G>A (p.Gly115=)
|
|
|
NM_005105.5(RBM8A):c.45C>T (p.Phe15=)
|
|
|
NM_005105.5(RBM8A):c.479+12A>G
|
|
|
NM_005105.5(RBM8A):c.480-5C>T
|
|
|
NM_005105.5(RBM8A):c.480-8T>G
|
|
|
NM_005105.5(RBM8A):c.67+11T>C
|
|
|
NM_005105.5(RBM8A):c.67+13G>A
|
|
|
NM_005105.5(RBM8A):c.67+17C>T
|
|
|
NM_005105.5(RBM8A):c.68-15C>T
|
|
|
NM_005105.5(RBM8A):c.68-18T>C
|
|
|
NM_005105.5(RBM8A):c.68-4C>T
|
rs782317229
|
|
NM_005105.5(RBM8A):c.6G>C (p.Ala2=)
|
|
|
NM_005373.3(MPL):c.1011A>G (p.Glu337=)
|
rs1318577614
|
|
NM_005373.3(MPL):c.1017A>G (p.Lys339=)
|
|
|
NM_005373.3(MPL):c.1023T>C (p.Asn341=)
|
rs554597610
|
|
NM_005373.3(MPL):c.1026A>C (p.Pro342=)
|
|
|
NM_005373.3(MPL):c.1038C>T (p.Thr346=)
|
|
|
NM_005373.3(MPL):c.105A>G (p.Ser35=)
|
rs2153916223
|
|
NM_005373.3(MPL):c.1116G>A (p.Pro372=)
|
rs781733134
|
|
NM_005373.3(MPL):c.1119T>G (p.Gly373=)
|
rs748581599
|
|
NM_005373.3(MPL):c.1143C>T (p.Ser381=)
|
rs2153918638
|
|
NM_005373.3(MPL):c.1158C>T (p.His386=)
|
|
|
NM_005373.3(MPL):c.1165+12C>A
|
|
|
NM_005373.3(MPL):c.1165+18_1165+27dup
|
|
|
NM_005373.3(MPL):c.1165+18del
|
|
|
NM_005373.3(MPL):c.1166-13G>A
|
|
|
NM_005373.3(MPL):c.1166-14T>C
|
|
|
NM_005373.3(MPL):c.1166-5T>C
|
|
|
NM_005373.3(MPL):c.1166-6C>T
|
rs1647059033
|
|
NM_005373.3(MPL):c.1166-9T>C
|
|
|
NM_005373.3(MPL):c.1167G>A (p.Val389=)
|
rs2153918731
|
|
NM_005373.3(MPL):c.1176C>T (p.Pro392=)
|
|
|
NM_005373.3(MPL):c.1182A>C (p.Pro394=)
|
|
|
NM_005373.3(MPL):c.1185C>T (p.Asn395=)
|
|
|
NM_005373.3(MPL):c.1200G>A (p.Glu400=)
|
rs2153918759
|
|
NM_005373.3(MPL):c.1215T>C (p.His405=)
|
rs2153918763
|
|
NM_005373.3(MPL):c.1239A>G (p.Pro413=)
|
|
|
NM_005373.3(MPL):c.1242G>C (p.Ser414=)
|
rs544064034
|
|
NM_005373.3(MPL):c.1245C>A (p.Ser415=)
|
rs1002584503
|
|
NM_005373.3(MPL):c.1251A>C (p.Ala417=)
|
|
|
NM_005373.3(MPL):c.1254C>G (p.Ala418=)
|
rs1344383290
|
|
NM_005373.3(MPL):c.1260G>A (p.Glu420=)
|
|
|
NM_005373.3(MPL):c.1272A>G (p.Gln424=)
|
rs1647060081
|
|
NM_005373.3(MPL):c.1275C>G (p.Leu425=)
|
|
|
NM_005373.3(MPL):c.1299G>A (p.Gln433=)
|
|
|
NM_005373.3(MPL):c.1308+12C>T
|
|
|
NM_005373.3(MPL):c.1308+8C>A
|
rs376365109
|
|
NM_005373.3(MPL):c.1308+8C>G
|
rs376365109
|
|
NM_005373.3(MPL):c.1309-18G>A
|
|
|
NM_005373.3(MPL):c.1309-18G>T
|
|
|
NM_005373.3(MPL):c.1309-19C>T
|
|
|
NM_005373.3(MPL):c.1309-3dup
|
|
|
NM_005373.3(MPL):c.1309-6G>A
|
rs2153919199
|
|
NM_005373.3(MPL):c.1314G>C (p.Leu438=)
|
|
|
NM_005373.3(MPL):c.1320G>C (p.Pro440=)
|
rs2153919217
|
|
NM_005373.3(MPL):c.1326C>G (p.Leu442=)
|
|
|
NM_005373.3(MPL):c.1329G>T (p.Gly443=)
|
|
|
NM_005373.3(MPL):c.1338A>G (p.Gly446=)
|
rs530475779
|
|
NM_005373.3(MPL):c.1341G>C (p.Gly447=)
|
|
|
NM_005373.3(MPL):c.1345C>T (p.Leu449=)
|
rs2153919239
|
|
NM_005373.3(MPL):c.1351C>T (p.Leu451=)
|
|
|
NM_005373.3(MPL):c.1356C>T (p.Arg452=)
|
rs1647073349
|
|
NM_005373.3(MPL):c.1359G>A (p.Pro453=)
|
rs1262936822
|
|
NM_005373.3(MPL):c.1365T>C (p.Ser455=)
|
|
|
NM_005373.3(MPL):c.1371C>T (p.Tyr457=)
|
rs2153919254
|
|
NM_005373.3(MPL):c.1381C>T (p.Leu461=)
|
rs2153919261
|
|
NM_005373.3(MPL):c.1389C>T (p.Ala463=)
|
|
|
NM_005373.3(MPL):c.1395C>T (p.Leu465=)
|
|
|
NM_005373.3(MPL):c.1398C>T (p.Asn466=)
|
|
|
NM_005373.3(MPL):c.1401C>T (p.Gly467=)
|
rs2153919286
|
|
NM_005373.3(MPL):c.1407C>T (p.Thr469=)
|
rs2153919290
|
|
NM_005373.3(MPL):c.1419C>T (p.Pro473=)
|
|
|
NM_005373.3(MPL):c.1428G>T (p.Ser476=)
|
rs2153919294
|
|
NM_005373.3(MPL):c.1434G>A (p.Ser478=)
|
|
|
NM_005373.3(MPL):c.1434G>C (p.Ser478=)
|
rs916392437
|
|
NM_005373.3(MPL):c.1440A>G (p.Pro480=)
|
|
|
NM_005373.3(MPL):c.1452G>A (p.Glu484=)
|
|
|
NM_005373.3(MPL):c.1461C>A (p.Thr487=)
|
|
|
NM_005373.3(MPL):c.1461C>G (p.Thr487=)
|
|
|
NM_005373.3(MPL):c.1464G>A (p.Glu488=)
|
|
|
NM_005373.3(MPL):c.1468+10G>A
|
rs2153919323
|
|
NM_005373.3(MPL):c.1468+10G>T
|
|
|
NM_005373.3(MPL):c.1468+11C>A
|
|
|
NM_005373.3(MPL):c.1468+14C>G
|
|
|
NM_005373.3(MPL):c.1468+14C>T
|
|
|
NM_005373.3(MPL):c.1468+6dup
|
|
|
NM_005373.3(MPL):c.1468+7C>A
|
|
|
NM_005373.3(MPL):c.1468+7C>G
|
rs1360335718
|
|
NM_005373.3(MPL):c.1468+9A>G
|
|
|
NM_005373.3(MPL):c.1469-16C>T
|
|
|
NM_005373.3(MPL):c.1469-17C>A
|
|
|
NM_005373.3(MPL):c.1469-17C>T
|
|
|
NM_005373.3(MPL):c.1469-7C>G
|
rs202232618
|
|
NM_005373.3(MPL):c.147T>C (p.Thr49=)
|
|
|
NM_005373.3(MPL):c.1480T>C (p.Leu494=)
|
|
|
NM_005373.3(MPL):c.1491T>C (p.Ala497=)
|
|
|
NM_005373.3(MPL):c.1506G>A (p.Leu502=)
|
|
|
NM_005373.3(MPL):c.150C>T (p.Cys50=)
|
|
|
NM_005373.3(MPL):c.1524G>A (p.Leu508=)
|
|
|
NM_005373.3(MPL):c.1527C>A (p.Gly509=)
|
rs1570472144
|
|
NM_005373.3(MPL):c.1527C>T (p.Gly509=)
|
|
|
NM_005373.3(MPL):c.1563C>T (p.Tyr521=)
|
rs1392072769
|
|
NM_005373.3(MPL):c.1565+11C>T
|
|
|
NM_005373.3(MPL):c.1565+12G>A
|
|
|
NM_005373.3(MPL):c.1565+12G>C
|
|
|
NM_005373.3(MPL):c.1565+18C>A
|
|
|
NM_005373.3(MPL):c.1565+19dup
|
|
|
NM_005373.3(MPL):c.1566-14T>C
|
|
|
NM_005373.3(MPL):c.1566-15T>C
|
|
|
NM_005373.3(MPL):c.1566-16C>T
|
|
|
NM_005373.3(MPL):c.1566-19T>C
|
|
|
NM_005373.3(MPL):c.1566-6C>T
|
|
|
NM_005373.3(MPL):c.1566-7C>T
|
rs375344403
|
|
NM_005373.3(MPL):c.1572G>C (p.Leu524=)
|
rs2153919916
|
|
NM_005373.3(MPL):c.1584G>A (p.Leu528=)
|
rs1380383088
|
|
NM_005373.3(MPL):c.159T>C (p.Asp53=)
|
|
|
NM_005373.3(MPL):c.1603C>T (p.Leu535=)
|
|
|
NM_005373.3(MPL):c.1626C>T (p.Tyr542=)
|
|
|
NM_005373.3(MPL):c.162G>A (p.Glu54=)
|
|
|
NM_005373.3(MPL):c.1635C>T (p.Asp545=)
|
rs374221815
|
|
NM_005373.3(MPL):c.1640C>T (p.Ala547Val)
|
|
|
NM_005373.3(MPL):c.1647G>A (p.Leu549=)
|
|
|
NM_005373.3(MPL):c.1653+10C>T
|
rs2153919956
|
|
NM_005373.3(MPL):c.1653+13C>T
|
|
|
NM_005373.3(MPL):c.1653+20_1653+21del
|
|
|
NM_005373.3(MPL):c.1653+7G>A
|
rs2153919952
|
|
NM_005373.3(MPL):c.1654-11A>G
|
|
|
NM_005373.3(MPL):c.1654-20C>T
|
|
|
NM_005373.3(MPL):c.1654-5C>A
|
rs1020318873
|
|
NM_005373.3(MPL):c.1654-5C>T
|
rs1020318873
|
|
NM_005373.3(MPL):c.1654-9C>T
|
rs2153920018
|
|
NM_005373.3(MPL):c.1662C>T (p.Ala554=)
|
|
|
NM_005373.3(MPL):c.1665A>C (p.Thr555=)
|
|
|
NM_005373.3(MPL):c.1677C>T (p.Thr559=)
|
|
|
NM_005373.3(MPL):c.1680T>C (p.Cys560=)
|
|
|
NM_005373.3(MPL):c.1683A>G (p.Glu561=)
|
rs202022473
|
|
NM_005373.3(MPL):c.1686A>G (p.Glu562=)
|
|
|
NM_005373.3(MPL):c.1701C>T (p.Leu567=)
|
|
|
NM_005373.3(MPL):c.1719G>A (p.Lys573=)
|
rs774393112
|
|
NM_005373.3(MPL):c.1728G>A (p.Glu576=)
|
|
|
NM_005373.3(MPL):c.1743C>G (p.Pro581=)
|
|
|
NM_005373.3(MPL):c.1761C>T (p.Ala587=)
|
rs1647101111
|
|
NM_005373.3(MPL):c.1782G>A (p.Leu594=)
|
|
|
NM_005373.3(MPL):c.1795C>T (p.Leu599=)
|
|
|
NM_005373.3(MPL):c.1809C>G (p.Pro603=)
|
rs374553815
|
|
NM_005373.3(MPL):c.1812G>C (p.Leu604=)
|
|
|
NM_005373.3(MPL):c.1815T>C (p.Ser605=)
|
|
|
NM_005373.3(MPL):c.1818G>A (p.Val606=)
|
rs2153920103
|
|
NM_005373.3(MPL):c.1827C>A (p.Pro609=)
|
|
|
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala)
|
|
|
NM_005373.3(MPL):c.1842G>A (p.Gly614=)
|
|
|
NM_005373.3(MPL):c.1857C>T (p.Thr619=)
|
rs2153920125
|
|
NM_005373.3(MPL):c.1860C>T (p.His620=)
|
|
|
NM_005373.3(MPL):c.1893T>C (p.Tyr631=)
|
|
|
NM_005373.3(MPL):c.1905T>C (p.Pro635=)
|
|
|
NM_005373.3(MPL):c.192G>A (p.Gln64=)
|
|
|
NM_005373.3(MPL):c.196C>T (p.Leu66=)
|
rs886046349
|
|
NM_005373.3(MPL):c.198G>A (p.Leu66=)
|
rs1647007308
|
|
NM_005373.3(MPL):c.207C>T (p.Tyr69=)
|
rs2153916283
|
|
NM_005373.3(MPL):c.212+10G>A
|
|
|
NM_005373.3(MPL):c.212+17G>A
|
|
|
NM_005373.3(MPL):c.212+17G>T
|
|
|
NM_005373.3(MPL):c.212+8C>T
|
|
|
NM_005373.3(MPL):c.213-12C>T
|
|
|
NM_005373.3(MPL):c.213-20G>C
|
|
|
NM_005373.3(MPL):c.213-6C>T
|
rs1647009547
|
|
NM_005373.3(MPL):c.213-7C>T
|
rs2153916416
|
|
NM_005373.3(MPL):c.219G>A (p.Lys73=)
|
|
|
NM_005373.3(MPL):c.234C>G (p.Pro78=)
|
|
|
NM_005373.3(MPL):c.234C>T (p.Pro78=)
|
|
|
NM_005373.3(MPL):c.255C>T (p.Pro85=)
|
rs1557463066
|
|
NM_005373.3(MPL):c.264A>T (p.Gly88=)
|
|
|
NM_005373.3(MPL):c.279C>T (p.Cys93=)
|
rs2153916471
|
|
NM_005373.3(MPL):c.27C>T (p.Val9=)
|
rs1343948119
|
|
NM_005373.3(MPL):c.306T>A (p.Arg102=)
|
rs140354935
|
|
NM_005373.3(MPL):c.306T>C (p.Arg102=)
|
|
|
NM_005373.3(MPL):c.309C>A (p.Leu103=)
|
|
|
NM_005373.3(MPL):c.315T>C (p.Phe105=)
|
rs2153916507
|
|
NM_005373.3(MPL):c.333G>A (p.Val111=)
|
rs1570464811
|
|
NM_005373.3(MPL):c.339T>C (p.Asn113=)
|
|
|
NM_005373.3(MPL):c.366G>A (p.Gln122=)
|
|
|
NM_005373.3(MPL):c.367C>A (p.Arg123=)
|
|
|
NM_005373.3(MPL):c.391+13C>T
|
|
|
NM_005373.3(MPL):c.391+18G>A
|
|
|
NM_005373.3(MPL):c.391+19T>C
|
|
|
NM_005373.3(MPL):c.391+19T>G
|
|
|
NM_005373.3(MPL):c.392-13G>C
|
|
|
NM_005373.3(MPL):c.392-15_392-14del
|
|
|
NM_005373.3(MPL):c.392-16C>T
|
|
|
NM_005373.3(MPL):c.392-20G>A
|
|
|
NM_005373.3(MPL):c.392-8G>C
|
|
|
NM_005373.3(MPL):c.392-8G>T
|
|
|
NM_005373.3(MPL):c.392-9T>C
|
rs2153916670
|
|
NM_005373.3(MPL):c.399G>A (p.Pro133=)
|
rs768283382
|
|
NM_005373.3(MPL):c.402T>C (p.Ala134=)
|
|
|
NM_005373.3(MPL):c.408C>A (p.Pro136=)
|
rs146579984
|
|
NM_005373.3(MPL):c.408C>G (p.Pro136=)
|
rs146579984
|
|
NM_005373.3(MPL):c.420G>A (p.Lys140=)
|
rs2153916692
|
|
NM_005373.3(MPL):c.423C>T (p.Ala141=)
|
rs2153916694
|
|
NM_005373.3(MPL):c.42C>T (p.Leu14=)
|
rs2153916109
|
|
NM_005373.3(MPL):c.432G>A (p.Gly144=)
|
|
|
NM_005373.3(MPL):c.432G>C (p.Gly144=)
|
rs2153916702
|
|
NM_005373.3(MPL):c.444G>T (p.Gly148=)
|
|
|
NM_005373.3(MPL):c.447A>G (p.Glu149=)
|
rs2153916718
|
|
NM_005373.3(MPL):c.459C>T (p.Ser153=)
|
|
|
NM_005373.3(MPL):c.465G>A (p.Glu155=)
|
|
|
NM_005373.3(MPL):c.492C>T (p.Phe164=)
|
rs1343497787
|
|
NM_005373.3(MPL):c.493C>T (p.Leu165=)
|
|
|
NM_005373.3(MPL):c.501C>T (p.Tyr167=)
|
rs1647014738
|
|
NM_005373.3(MPL):c.51T>G (p.Pro17=)
|
rs2153916114
|
|
NM_005373.3(MPL):c.525T>C (p.Asp175=)
|
|
|
NM_005373.3(MPL):c.531G>A (p.Lys177=)
|
rs2153916772
|
|
NM_005373.3(MPL):c.540T>C (p.Thr180=)
|
rs2153916776
|
|
NM_005373.3(MPL):c.549G>T (p.Thr183=)
|
|
|
NM_005373.3(MPL):c.561G>A (p.Leu187=)
|
rs1570465392
|
|
NM_005373.3(MPL):c.567C>T (p.Ala189=)
|
|
|
NM_005373.3(MPL):c.576C>T (p.Thr192=)
|
rs2153916800
|
|
NM_005373.3(MPL):c.579C>T (p.Cys193=)
|
rs747962998
|
|
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)
|
|
|
NM_005373.3(MPL):c.585T>C (p.Pro195=)
|
|
|
NM_005373.3(MPL):c.639G>A (p.Gln213=)
|
|
|
NM_005373.3(MPL):c.663A>G (p.Gly221=)
|
rs1647016206
|
|
NM_005373.3(MPL):c.669G>A (p.Lys223=)
|
|
|
NM_005373.3(MPL):c.684T>C (p.Ser228=)
|
rs766536759
|
|
NM_005373.3(MPL):c.690+10C>G
|
rs1160632727
|
|
NM_005373.3(MPL):c.690+15T>C
|
|
|
NM_005373.3(MPL):c.690+19G>A
|
|
|
NM_005373.3(MPL):c.690+20C>T
|
|
|
NM_005373.3(MPL):c.690+7T>C
|
|
|
NM_005373.3(MPL):c.690+8_690+12dup
|
|
|
NM_005373.3(MPL):c.691-12T>A
|
|
|
NM_005373.3(MPL):c.691-16G>C
|
|
|
NM_005373.3(MPL):c.691-17G>A
|
|
|
NM_005373.3(MPL):c.691-4C>T
|
|
|
NM_005373.3(MPL):c.691-7T>C
|
|
|
NM_005373.3(MPL):c.696A>G (p.Ser232=)
|
|
|
NM_005373.3(MPL):c.696A>T (p.Ser232=)
|
rs767614158
|
|
NM_005373.3(MPL):c.69C>A (p.Val23=)
|
rs2153916126
|
|
NM_005373.3(MPL):c.6C>T (p.Pro2=)
|
rs2153916091
|
|
NM_005373.3(MPL):c.723C>T (p.Cys241=)
|
rs2153917030
|
|
NM_005373.3(MPL):c.768G>A (p.Leu256=)
|
rs1570465882
|
|
NM_005373.3(MPL):c.771C>A (p.Arg257=)
|
rs1553127722
|
|
NM_005373.3(MPL):c.774C>T (p.Ser258=)
|
rs746721066
|
|
NM_005373.3(MPL):c.783T>C (p.Asp261=)
|
rs749648068
|
|
NM_005373.3(MPL):c.79+10A>C
|
|
|
NM_005373.3(MPL):c.79+15G>A
|
|
|
NM_005373.3(MPL):c.79+15G>C
|
|
|
NM_005373.3(MPL):c.79+16G>T
|
|
|
NM_005373.3(MPL):c.79+17G>A
|
|
|
NM_005373.3(MPL):c.79+17G>T
|
|
|
NM_005373.3(MPL):c.79+18T>C
|
|
|
NM_005373.3(MPL):c.79+19G>A
|
|
|
NM_005373.3(MPL):c.79+20G>A
|
|
|
NM_005373.3(MPL):c.79+7T>C
|
rs2153916135
|
|
NM_005373.3(MPL):c.79+8G>C
|
|
|
NM_005373.3(MPL):c.79+9C>G
|
|
|
NM_005373.3(MPL):c.79+9C>T
|
|
|
NM_005373.3(MPL):c.80-11C>A
|
|
|
NM_005373.3(MPL):c.80-15C>T
|
|
|
NM_005373.3(MPL):c.80-17C>T
|
|
|
NM_005373.3(MPL):c.80-19C>T
|
|
|
NM_005373.3(MPL):c.80-7T>C
|
rs2153916207
|
|
NM_005373.3(MPL):c.80-9G>T
|
rs2153916206
|
|
NM_005373.3(MPL):c.837C>T (p.Asp279=)
|
|
|
NM_005373.3(MPL):c.853+10C>G
|
|
|
NM_005373.3(MPL):c.853+10C>T
|
|
|
NM_005373.3(MPL):c.853+10del
|
|
|
NM_005373.3(MPL):c.853+15G>A
|
|
|
NM_005373.3(MPL):c.853+18T>C
|
|
|
NM_005373.3(MPL):c.853+18T>G
|
|
|
NM_005373.3(MPL):c.853+18del
|
|
|
NM_005373.3(MPL):c.853+7C>A
|
rs2153917115
|
|
NM_005373.3(MPL):c.854-14T>C
|
|
|
NM_005373.3(MPL):c.854-15C>T
|
|
|
NM_005373.3(MPL):c.870A>G (p.Gln290=)
|
|
|
NM_005373.3(MPL):c.876T>C (p.Phe292=)
|
|
|
NM_005373.3(MPL):c.879C>G (p.Thr293=)
|
|
|
NM_005373.3(MPL):c.921C>T (p.Asp307=)
|
rs764243911
|
|
NM_005373.3(MPL):c.933C>T (p.Ser311=)
|
rs2153917221
|
|
NM_005373.3(MPL):c.939C>G (p.Gly313=)
|
|
|
NM_005373.3(MPL):c.957G>A (p.Arg319=)
|
|
|
NM_005373.3(MPL):c.963G>C (p.Arg321=)
|
|
|
NM_005373.3(MPL):c.96A>C (p.Ala32=)
|
|
|
NM_005373.3(MPL):c.96A>G (p.Ala32=)
|
rs1647006420
|
|
NM_005373.3(MPL):c.980+14T>C
|
|
|
NM_005373.3(MPL):c.980+16C>T
|
|
|
NM_005373.3(MPL):c.981-11C>T
|
|
|
NM_005373.3(MPL):c.987C>A (p.Pro329=)
|
rs144491350
|
|
NM_005373.3(MPL):c.987C>G (p.Pro329=)
|
|
|
NM_005373.3(MPL):c.999C>T (p.Asn333=)
|
rs1053884539
|
|
NM_005373.3(MPL):c.9C>G (p.Ser3=)
|
|
|
NM_005476.7(GNE):c.-42-6T>C
|
|
|
NM_005476.7(GNE):c.1017C>T (p.Thr339=)
|
rs769534184
|
|
NM_005476.7(GNE):c.1023C>T (p.Asp341=)
|
rs768446059
|
|
NM_005476.7(GNE):c.102C>A (p.Thr34=)
|
|
|
NM_005476.7(GNE):c.102C>T (p.Thr34=)
|
rs147290887
|
|
NM_005476.7(GNE):c.1032G>A (p.Leu344=)
|
|
|
NM_005476.7(GNE):c.1038A>G (p.Ala346=)
|
|
|
NM_005476.7(GNE):c.1039C>T (p.Leu347=)
|
rs2133049484
|
|
NM_005476.7(GNE):c.105A>G (p.Glu35=)
|
rs2133126073
|
|
NM_005476.7(GNE):c.1071-11del
|
|
|
NM_005476.7(GNE):c.1071-4G>T
|
rs567349676
|
|
NM_005476.7(GNE):c.1071-6T>C
|
|
|
NM_005476.7(GNE):c.1111T>C (p.Leu371=)
|
rs1305905839
|
|
NM_005476.7(GNE):c.1113G>A (p.Leu371=)
|
|
|
NM_005476.7(GNE):c.111G>A (p.Glu37=)
|
|
|
NM_005476.7(GNE):c.1146A>G (p.Pro382=)
|
|
|
NM_005476.7(GNE):c.1146A>T (p.Pro382=)
|
rs2133041945
|
|
NM_005476.7(GNE):c.1149G>A (p.Leu383=)
|
|
|
NM_005476.7(GNE):c.1155G>A (p.Lys385=)
|
|
|
NM_005476.7(GNE):c.1179G>A (p.Lys393=)
|
|
|
NM_005476.7(GNE):c.1191T>G (p.Ser397=)
|
|
|
NM_005476.7(GNE):c.1200T>C (p.Ile400=)
|
rs1173945551
|
|
NM_005476.7(GNE):c.1227C>G (p.Ala409=)
|
rs1828914515
|
|
NM_005476.7(GNE):c.1233C>T (p.Ala411=)
|
rs1057523203
|
|
NM_005476.7(GNE):c.1236T>G (p.Val412=)
|
rs1587294795
|
|
NM_005476.7(GNE):c.1245C>A (p.Gly415=)
|
rs140784655
|
|
NM_005476.7(GNE):c.1266A>C (p.Ala422=)
|
rs2133041296
|
|
NM_005476.7(GNE):c.1269A>T (p.Ile423=)
|
rs1261239311
|
|
NM_005476.7(GNE):c.1281+10C>T
|
|
|
NM_005476.7(GNE):c.1281+11T>G
|
|
|
NM_005476.7(GNE):c.1281+11del
|
|
|
NM_005476.7(GNE):c.1281+13C>T
|
|
|
NM_005476.7(GNE):c.1281+15A>G
|
|
|
NM_005476.7(GNE):c.1281+18C>A
|
|
|
NM_005476.7(GNE):c.1281+18C>T
|
|
|
NM_005476.7(GNE):c.1281+8A>G
|
|
|
NM_005476.7(GNE):c.1282-14G>A
|
|
|
NM_005476.7(GNE):c.1282-14_1282-12del
|
|
|
NM_005476.7(GNE):c.1282-15_1282-14insGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-17_1282-16insGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-17_1282-16insGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18T>C
|
rs764072134
|
|
NM_005476.7(GNE):c.1282-18_1282-17insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
rs778206973
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-19T>C
|
|
|
NM_005476.7(GNE):c.1282-7C>G
|
|
|
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGGAGTAAAGCAATGTGGCCCAGGCGGGCCTGCGGAGTGGATTTGGGCAAAAACGGCTCAAAGCAANNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-9C>G
|
|
|
NM_005476.7(GNE):c.1302T>C (p.Tyr434=)
|
rs886044498
|
|
NM_005476.7(GNE):c.1308G>A (p.Gln436=)
|
rs2133024862
|
|
NM_005476.7(GNE):c.1311C>T (p.Phe437=)
|
rs1554659051
|
|
NM_005476.7(GNE):c.1323C>A (p.Thr441=)
|
rs2133024607
|
|
NM_005476.7(GNE):c.1323C>T (p.Thr441=)
|
|
|
NM_005476.7(GNE):c.1326T>C (p.Tyr442=)
|
|
|
NM_005476.7(GNE):c.1350A>G (p.Leu450=)
|
|
|
NM_005476.7(GNE):c.135A>G (p.Val45=)
|
rs2133125932
|
|
NM_005476.7(GNE):c.1362G>C (p.Val454=)
|
|
|
NM_005476.7(GNE):c.1365A>G (p.Glu455=)
|
rs2133024264
|
|
NM_005476.7(GNE):c.1387C>T (p.Leu463=)
|
|
|
NM_005476.7(GNE):c.1411+10_1411+11del
|
rs2133023892
|
|
NM_005476.7(GNE):c.1411+7T>G
|
|
|
NM_005476.7(GNE):c.1412-20G>C
|
rs751339818
|
|
NM_005476.7(GNE):c.1419C>G (p.Ser473=)
|
rs2133022403
|
|
NM_005476.7(GNE):c.1461T>C (p.His487=)
|
|
|
NM_005476.7(GNE):c.1467C>T (p.Thr489=)
|
rs1235105944
|
|
NM_005476.7(GNE):c.1470A>G (p.Lys490=)
|
|
|
NM_005476.7(GNE):c.1471C>T (p.Leu491=)
|
|
|
NM_005476.7(GNE):c.1476C>T (p.Ile492=)
|
|
|
NM_005476.7(GNE):c.147C>T (p.His49=)
|
rs974552839
|
|
NM_005476.7(GNE):c.1482G>A (p.Glu494=)
|
rs1485580233
|
|
NM_005476.7(GNE):c.1488C>T (p.Asn496=)
|
|
|
NM_005476.7(GNE):c.1500T>A (p.Leu500=)
|
rs2133021961
|
|
NM_005476.7(GNE):c.1509C>A (p.Pro503=)
|
|
|
NM_005476.7(GNE):c.1522T>C (p.Leu508=)
|
rs2133021847
|
|
NM_005476.7(GNE):c.1563T>C (p.Ala521=)
|
rs2133021324
|
|
NM_005476.7(GNE):c.1569G>C (p.Leu523=)
|
|
|
NM_005476.7(GNE):c.1572G>C (p.Ala524=)
|
|
|
NM_005476.7(GNE):c.1587C>T (p.Gly529=)
|
|
|
NM_005476.7(GNE):c.1590A>G (p.Gln530=)
|
rs2133021114
|
|
NM_005476.7(GNE):c.159C>T (p.Asp53=)
|
rs1830018253
|
|
NM_005476.7(GNE):c.1600C>T (p.Leu534=)
|
|
|
NM_005476.7(GNE):c.1602G>A (p.Leu534=)
|
rs2133020974
|
|
NM_005476.7(GNE):c.1614T>A (p.Val538=)
|
rs2133020873
|
|
NM_005476.7(GNE):c.162T>C (p.Tyr54=)
|
rs756575824
|
|
NM_005476.7(GNE):c.1633+10G>A
|
rs1332613836
|
|
NM_005476.7(GNE):c.1633+12A>G
|
|
|
NM_005476.7(GNE):c.1633+12del
|
|
|
NM_005476.7(GNE):c.1633+14G>A
|
rs748208582
|
|
NM_005476.7(GNE):c.1633+15G>T
|
|
|
NM_005476.7(GNE):c.1633+7G>C
|
rs773608353
|
|
NM_005476.7(GNE):c.1633+8G>C
|
rs1028353184
|
|
NM_005476.7(GNE):c.1634-10C>T
|
|
|
NM_005476.7(GNE):c.1634-11C>T
|
|
|
NM_005476.7(GNE):c.1634-14A>G
|
|
|
NM_005476.7(GNE):c.1634-16C>T
|
|
|
NM_005476.7(GNE):c.1634-20A>T
|
|
|
NM_005476.7(GNE):c.1634-4G>C
|
|
|
NM_005476.7(GNE):c.1634-6C>A
|
|
|
NM_005476.7(GNE):c.1634-7G>C
|
rs139442869
|
|
NM_005476.7(GNE):c.1638C>A (p.Ile546=)
|
rs147768211
|
|
NM_005476.7(GNE):c.164+16T>C
|
|
|
NM_005476.7(GNE):c.164+19C>T
|
|
|
NM_005476.7(GNE):c.164+7T>C
|
|
|
NM_005476.7(GNE):c.164+8G>A
|
rs2133125796
|
|
NM_005476.7(GNE):c.165-12C>G
|
|
|
NM_005476.7(GNE):c.165-12C>T
|
|
|
NM_005476.7(GNE):c.165-5T>C
|
|
|
NM_005476.7(GNE):c.165-6C>G
|
rs2133114327
|
|
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
|
|
|
NM_005476.7(GNE):c.1671C>T (p.Ile557=)
|
rs1587277726
|
|
NM_005476.7(GNE):c.1689T>C (p.Cys563=)
|
rs768667610
|
|
NM_005476.7(GNE):c.1692T>G (p.Ala564=)
|
rs1393386221
|
|
NM_005476.7(GNE):c.171A>G (p.Thr57=)
|
|
|
NM_005476.7(GNE):c.1749C>T (p.Ser583=)
|
|
|
NM_005476.7(GNE):c.1752T>C (p.His584=)
|
rs1368954364
|
|
NM_005476.7(GNE):c.1755G>C (p.Gly585=)
|
|
|
NM_005476.7(GNE):c.175C>A (p.Arg59=)
|
|
|
NM_005476.7(GNE):c.1767A>T (p.Ala589=)
|
|
|
NM_005476.7(GNE):c.1788G>A (p.Leu596=)
|
|
|
NM_005476.7(GNE):c.1791G>A (p.Gln597=)
|
rs1828506261
|
|
NM_005476.7(GNE):c.1794G>A (p.Arg598=)
|
|
|
NM_005476.7(GNE):c.1816+11del
|
rs886063925
|
|
NM_005476.7(GNE):c.1816+15C>G
|
|
|
NM_005476.7(GNE):c.1816+18G>A
|
|
|
NM_005476.7(GNE):c.1816+7G>A
|
|
|
NM_005476.7(GNE):c.1816+8T>G
|
|
|
NM_005476.7(GNE):c.1816+9C>A
|
|
|
NM_005476.7(GNE):c.1817-10C>T
|
rs2132997852
|
|
NM_005476.7(GNE):c.1817-11_1817-8del
|
rs769454562
|
|
NM_005476.7(GNE):c.1817-12C>G
|
|
|
NM_005476.7(GNE):c.1817-12C>T
|
|
|
NM_005476.7(GNE):c.1817-14C>T
|
|
|
NM_005476.7(GNE):c.1817-18C>A
|
|
|
NM_005476.7(GNE):c.1817-4T>G
|
|
|
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
|
|
|
NM_005476.7(GNE):c.1828T>C (p.Leu610=)
|
rs2132997736
|
|
NM_005476.7(GNE):c.1833G>A (p.Val611=)
|
rs2132997684
|
|
NM_005476.7(GNE):c.1839G>A (p.Gly613=)
|
rs2132997665
|
|
NM_005476.7(GNE):c.1857T>C (p.Asp619=)
|
rs1587273465
|
|
NM_005476.7(GNE):c.1863T>C (p.Ala621=)
|
|
|
NM_005476.7(GNE):c.1872G>T (p.Ala624=)
|
|
|
NM_005476.7(GNE):c.1878T>C (p.His626=)
|
|
|
NM_005476.7(GNE):c.1881C>T (p.Leu627=)
|
|
|
NM_005476.7(GNE):c.192T>C (p.Asp64=)
|
rs2133114091
|
|
NM_005476.7(GNE):c.1933+11G>C
|
|
|
NM_005476.7(GNE):c.1933+12G>A
|
|
|
NM_005476.7(GNE):c.1933+13C>T
|
|
|
NM_005476.7(GNE):c.1933+19G>A
|
|
|
NM_005476.7(GNE):c.1933+7A>C
|
rs368100600
|
|
NM_005476.7(GNE):c.1933+7A>G
|
rs368100600
|
|
NM_005476.7(GNE):c.1933+8_1933+17dup
|
|
|
NM_005476.7(GNE):c.1934-10C>T
|
|
|
NM_005476.7(GNE):c.1934-11T>C
|
|
|
NM_005476.7(GNE):c.1934-11T>G
|
|
|
NM_005476.7(GNE):c.1934-12G>T
|
|
|
NM_005476.7(GNE):c.1934-17T>C
|
|
|
NM_005476.7(GNE):c.1934-4A>G
|
rs2132994193
|
|
NM_005476.7(GNE):c.1934-6C>T
|
|
|
NM_005476.7(GNE):c.1934-7C>T
|
rs1387525049
|
|
NM_005476.7(GNE):c.1934-8C>T
|
rs2132994218
|
|
NM_005476.7(GNE):c.1945T>C (p.Leu649=)
|
rs1045540608
|
|
NM_005476.7(GNE):c.1956G>T (p.Gly652=)
|
|
|
NM_005476.7(GNE):c.1965C>T (p.Asn655=)
|
|
|
NM_005476.7(GNE):c.1968C>A (p.Ile656=)
|
|
|
NM_005476.7(GNE):c.1971C>A (p.Leu657=)
|
rs2132993854
|
|
NM_005476.7(GNE):c.1989C>A (p.Ser663=)
|
rs2132993686
|
|
NM_005476.7(GNE):c.1989C>T (p.Ser663=)
|
rs2132993686
|
|
NM_005476.7(GNE):c.2007A>T (p.Gly669=)
|
|
|
NM_005476.7(GNE):c.2025T>C (p.Tyr675=)
|
rs1479027996
|
|
NM_005476.7(GNE):c.204T>C (p.Ile68=)
|
|
|
NM_005476.7(GNE):c.2055G>A (p.Gln685=)
|
|
|
NM_005476.7(GNE):c.2061C>T (p.Ala687=)
|
|
|
NM_005476.7(GNE):c.2073G>A (p.Val691=)
|
rs760445653
|
|
NM_005476.7(GNE):c.2085T>C (p.Asp695=)
|
rs2132992452
|
|
NM_005476.7(GNE):c.2097G>C (p.Ser699=)
|
rs200490682
|
|
NM_005476.7(GNE):c.2118G>A (p.Leu706=)
|
rs1554657933
|
|
NM_005476.7(GNE):c.2118G>T (p.Leu706=)
|
|
|
NM_005476.7(GNE):c.2127T>C (p.Ala709=)
|
rs1282905700
|
|
NM_005476.7(GNE):c.213G>A (p.Arg71=)
|
|
|
NM_005476.7(GNE):c.2142G>A (p.Leu714=)
|
|
|
NM_005476.7(GNE):c.2142G>T (p.Leu714=)
|
|
|
NM_005476.7(GNE):c.2160G>A (p.Arg720=)
|
|
|
NM_005476.7(GNE):c.243G>A (p.Glu81=)
|
|
|
NM_005476.7(GNE):c.246A>G (p.Ala82=)
|
rs2133113710
|
|
NM_005476.7(GNE):c.255G>A (p.Val85=)
|
rs2133113626
|
|
NM_005476.7(GNE):c.267C>G (p.Gly89=)
|
|
|
NM_005476.7(GNE):c.267C>T (p.Gly89=)
|
|
|
NM_005476.7(GNE):c.276A>C (p.Leu92=)
|
|
|
NM_005476.7(GNE):c.297T>G (p.Leu99=)
|
rs544304534
|
|
NM_005476.7(GNE):c.303C>G (p.Arg101=)
|
|
|
NM_005476.7(GNE):c.315T>C (p.Asp105=)
|
rs886063927
|
|
NM_005476.7(GNE):c.330T>C (p.His110=)
|
rs2133113028
|
|
NM_005476.7(GNE):c.348C>T (p.Ala116=)
|
|
|
NM_005476.7(GNE):c.363A>G (p.Thr121=)
|
|
|
NM_005476.7(GNE):c.366T>C (p.Ser122=)
|
rs1421322802
|
|
NM_005476.7(GNE):c.417T>C (p.Ser139=)
|
|
|
NM_005476.7(GNE):c.420G>A (p.Gly140=)
|
rs2133112706
|
|
NM_005476.7(GNE):c.432C>T (p.Asp144=)
|
rs2133112638
|
|
NM_005476.7(GNE):c.441A>G (p.Arg147=)
|
|
|
NM_005476.7(GNE):c.444T>C (p.His148=)
|
|
|
NM_005476.7(GNE):c.474G>A (p.Val158=)
|
|
|
NM_005476.7(GNE):c.474G>C (p.Val158=)
|
rs753803897
|
|
NM_005476.7(GNE):c.480C>T (p.Cys160=)
|
rs1360990295
|
|
NM_005476.7(GNE):c.489T>C (p.Ser163=)
|
|
|
NM_005476.7(GNE):c.495G>A (p.Glu165=)
|
rs2133112122
|
|
NM_005476.7(GNE):c.538T>C (p.Leu180=)
|
rs2133111925
|
|
NM_005476.7(GNE):c.549C>T (p.Cys183=)
|
|
|
NM_005476.7(GNE):c.54C>T (p.Asn18=)
|
rs1406781067
|
|
NM_005476.7(GNE):c.588C>T (p.Asp196=)
|
|
|
NM_005476.7(GNE):c.591C>T (p.Tyr197=)
|
rs2133111680
|
|
NM_005476.7(GNE):c.597C>T (p.Ser199=)
|
|
|
NM_005476.7(GNE):c.616+15C>A
|
rs1002961152
|
|
NM_005476.7(GNE):c.617-13T>C
|
rs1266835565
|
|
NM_005476.7(GNE):c.63T>C (p.Asp21=)
|
|
|
NM_005476.7(GNE):c.642C>T (p.Tyr214=)
|
|
|
NM_005476.7(GNE):c.648T>G (p.Val216=)
|
rs375728173
|
|
NM_005476.7(GNE):c.654A>G (p.Leu218=)
|
|
|
NM_005476.7(GNE):c.660C>T (p.His220=)
|
rs2133078408
|
|
NM_005476.7(GNE):c.681G>A (p.Lys227=)
|
rs201894560
|
|
NM_005476.7(GNE):c.709T>C (p.Leu237=)
|
rs2133078170
|
|
NM_005476.7(GNE):c.723C>T (p.Ile241=)
|
|
|
NM_005476.7(GNE):c.750G>A (p.Leu250=)
|
|
|
NM_005476.7(GNE):c.753T>C (p.Phe251=)
|
rs370479900
|
|
NM_005476.7(GNE):c.759T>C (p.Asn253=)
|
|
|
NM_005476.7(GNE):c.769+10C>T
|
|
|
NM_005476.7(GNE):c.769+19G>A
|
|
|
NM_005476.7(GNE):c.769+7G>A
|
rs2133077826
|
|
NM_005476.7(GNE):c.770-20G>A
|
|
|
NM_005476.7(GNE):c.770-20G>T
|
|
|
NM_005476.7(GNE):c.770-8_770-3del
|
|
|
NM_005476.7(GNE):c.780G>A (p.Glu260=)
|
|
|
NM_005476.7(GNE):c.78C>G (p.Ala26=)
|
|
|
NM_005476.7(GNE):c.798G>A (p.Arg266=)
|
rs2133068760
|
|
NM_005476.7(GNE):c.807C>T (p.Gly269=)
|
|
|
NM_005476.7(GNE):c.81G>A (p.Pro27=)
|
rs768397785
|
|
NM_005476.7(GNE):c.831T>C (p.Arg277=)
|
rs1367695782
|
|
NM_005476.7(GNE):c.840A>G (p.Lys280=)
|
|
|
NM_005476.7(GNE):c.879T>C (p.His293=)
|
|
|
NM_005476.7(GNE):c.894T>C (p.Ile298=)
|
rs1277539567
|
|
NM_005476.7(GNE):c.942T>C (p.Pro314=)
|
rs2133068079
|
|
NM_005476.7(GNE):c.951C>T (p.Asn317=)
|
rs1456510873
|
|
NM_005476.7(GNE):c.982+13G>C
|
|
|
NM_005476.7(GNE):c.982+17A>G
|
|
|
NM_005476.7(GNE):c.982+19A>C
|
|
|
NM_005476.7(GNE):c.982+9C>T
|
rs1829282969
|
|
NM_005476.7(GNE):c.983-16C>T
|
|
|
NM_005476.7(GNE):c.983-7T>C
|
|
|
NM_005476.7(GNE):c.983-8T>G
|
|
|
NM_005476.7(GNE):c.984G>A (p.Gly328=)
|
rs2133049807
|
|
NM_005476.7(GNE):c.987G>A (p.Glu329=)
|
rs2133049764
|
|
NM_005476.7(GNE):c.9G>A (p.Lys3=)
|
rs2133126488
|
|