NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_005373.3(MPL):c.340G>A (p.Val114Met)
|
rs12731981
|
0.02191
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NC_000001.11:g.145919695T>C
|
rs61746197
|
0.00503
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_001001548.3(CD36):c.429+2T>C
|
rs3211893
|
0.00220
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_001001548.3(CD36):c.1150del (p.Ala384fs)
|
rs551607784
|
0.00157
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp)
|
rs148910227
|
0.00072
|
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)
|
rs527297896
|
0.00049
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)
|
rs144526169
|
0.00040
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)
|
rs148636776
|
0.00025
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_022788.5(P2RY12):c.365G>A (p.Arg122His)
|
rs778790805
|
0.00014
|
NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter)
|
rs201657731
|
0.00013
|
NM_001001548.3(CD36):c.430-2A>G
|
rs3211901
|
0.00013
|
NM_001129820.2(SLFN14):c.1456C>T (p.Arg486Ter)
|
rs192498365
|
0.00013
|
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)
|
rs75326924
|
0.00011
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)
|
rs149988492
|
0.00006
|
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)
|
rs763568293
|
0.00006
|
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys)
|
rs142239530
|
0.00005
|
NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln)
|
rs749454966
|
0.00004
|
NM_001001548.3(CD36):c.1254+1G>A
|
rs148051111
|
0.00004
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu)
|
rs760759446
|
0.00003
|
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)
|
rs778608263
|
0.00003
|
NM_000419.5(ITGA2B):c.2602-3C>G
|
rs763330792
|
0.00003
|
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)
|
rs2056451534
|
0.00003
|
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)
|
rs144210383
|
0.00003
|
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)
|
rs1212623980
|
0.00003
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)
|
rs121908626
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)
|
rs121918555
|
0.00003
|
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys)
|
rs199866795
|
0.00002
|
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)
|
rs121918452
|
0.00002
|
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter)
|
rs545489204
|
0.00002
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)
|
rs150132839
|
0.00002
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005476.7(GNE):c.302G>A (p.Arg101His)
|
rs144727134
|
0.00002
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter)
|
rs780613456
|
0.00002
|
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)
|
rs371852125
|
0.00002
|
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys)
|
rs201457594
|
0.00002
|
NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter)
|
rs1375190381
|
0.00001
|
NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe)
|
rs767224320
|
0.00001
|
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys)
|
rs774332906
|
0.00001
|
NM_000212.3(ITGB3):c.1260G>A (p.Thr420=)
|
rs74458693
|
0.00001
|
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg)
|
rs1397448267
|
0.00001
|
NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp)
|
rs777748046
|
0.00001
|
NM_000212.3(ITGB3):c.353T>A (p.Leu118His)
|
rs368325996
|
0.00001
|
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)
|
rs781062792
|
0.00001
|
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)
|
rs958609406
|
0.00001
|
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)
|
rs79208797
|
0.00001
|
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)
|
rs121918446
|
0.00001
|
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)
|
rs121918444
|
0.00001
|
NM_000212.3(ITGB3):c.778-2A>G
|
rs749261962
|
0.00001
|
NM_000212.3(ITGB3):c.856G>A (p.Gly286Arg)
|
rs1199275720
|
0.00001
|
NM_000212.3(ITGB3):c.917A>C (p.His306Pro)
|
rs13306476
|
0.00001
|
NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser)
|
rs1197982563
|
0.00001
|
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)
|
rs1214448436
|
0.00001
|
NM_000419.5(ITGA2B):c.1210+105A>G
|
rs992856733
|
0.00001
|
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp)
|
rs2048591163
|
0.00001
|
NM_000419.5(ITGA2B):c.1946+1G>A
|
rs746091910
|
0.00001
|
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)
|
rs74475415
|
0.00001
|
NM_000419.5(ITGA2B):c.408G>C (p.Val136=)
|
rs1400938437
|
0.00001
|
NM_000419.5(ITGA2B):c.409-1G>A
|
rs1393747638
|
0.00001
|
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala)
|
rs2048640485
|
0.00001
|
NM_000419.5(ITGA2B):c.527C>A (p.Pro176His)
|
rs148327798
|
0.00001
|
NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter)
|
rs775478465
|
0.00001
|
NM_001001548.3(CD36):c.610-2A>G
|
rs745604189
|
0.00001
|
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)
|
rs1569061762
|
0.00001
|
NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln)
|
rs1321659356
|
0.00001
|
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)
|
rs80338827
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_005373.3(MPL):c.1309-1G>T
|
rs1243113655
|
0.00001
|
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.263G>A (p.Gly88Glu)
|
rs587778516
|
0.00001
|
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)
|
rs1196161699
|
0.00001
|
NM_005373.3(MPL):c.391G>A (p.Gly131Ser)
|
rs775250202
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)
|
rs1057516798
|
0.00001
|
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)
|
rs754892377
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)
|
rs752286512
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)
|
rs1258671706
|
0.00001
|
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)
|
rs552758282
|
0.00001
|
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)
|
rs148523065
|
0.00001
|
NM_005476.7(GNE):c.466T>C (p.Tyr156His)
|
rs794727505
|
0.00001
|
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)
|
rs539332585
|
0.00001
|
NM_005476.7(GNE):c.572C>G (p.Ser191Ter)
|
rs1357906793
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
NM_014915.3(ANKRD26):c.-126T>C
|
rs1589393792
|
0.00001
|
NM_014915.3(ANKRD26):c.2392G>T (p.Glu798Ter)
|
rs560561829
|
0.00001
|
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs)
|
rs1235183015
|
0.00001
|
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys)
|
rs1341020147
|
0.00001
|
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu)
|
rs749279630
|
0.00001
|
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)
|
rs202099742
|
0.00001
|
NM_030773.4(TUBB1):c.726C>G (p.Phe242Leu)
|
rs890185415
|
0.00001
|
NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys)
|
rs376606652
|
0.00001
|
NM_139027.6(ADAMTS13):c.330+2T>C
|
rs1474290508
|
0.00001
|
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)
|
rs281875287
|
0.00001
|
GRCh37/hg19 1q21.1(chr1:145395604-145704146)
|
|
|
GRCh37/hg19 9p13.3(chr9:36227245-36227455)
|
|
|
NC_000001.11:g.145601946_148597425del
|
|
|
NC_000007.14:g.80649748_80727446del
|
|
|
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
|
|
|
NC_000009.11:g.(?_36229008)_(36236991_?)dup
|
|
|
NC_000009.11:g.(?_36229008)_(36249404_?)dup
|
|
|
NC_000009.11:g.(?_36246018)_(36249404_?)dup
|
|
|
NC_000009.12:g.(?_36227238)_(36227468_?)dup
|
|
|
NC_000011.9:g.(?_4045083)_(4045237_?)dup
|
|
|
NC_000014.9:g.95696766_96390792dup
|
|
|
NC_000021.8:g.35304341_36865875del
|
|
|
NC_000021.8:g.35304355_36865958del
|
|
|
NC_000021.8:g.36318516_37184936del
|
|
|
NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln)
|
rs779287554
|
|
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)
|
rs1468055437
|
|
NM_000132.4(F8):c.5441A>T (p.Asp1814Val)
|
rs2073030462
|
|
NM_000157.4(GBA1):c.26_27del (p.Glu9fs)
|
rs766291162
|
|
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs)
|
rs773663190
|
|
NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer)
|
rs1172767977
|
|
NM_000173.7(GP1BA):c.1480del (p.Thr494fs)
|
rs759573909
|
|
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs)
|
rs763978422
|
|
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp)
|
rs2151107705
|
|
NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs)
|
rs2151108738
|
|
NM_000173.7(GP1BA):c.1951dup (p.Ser651fs)
|
rs1597640885
|
|
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)
|
rs1597638598
|
|
NM_000173.7(GP1BA):c.407T>C (p.Leu136Pro)
|
rs1597638681
|
|
NM_000173.7(GP1BA):c.413G>T (p.Gly138Val)
|
rs1970365829
|
|
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser)
|
rs1597638745
|
|
NM_000173.7(GP1BA):c.470dup (p.Gly158fs)
|
rs1597638753
|
|
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)
|
rs1394634674
|
|
NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser)
|
rs1597639057
|
|
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val)
|
rs121908062
|
|
NM_000173.7(GP1BA):c.763A>G (p.Met255Val)
|
rs121908064
|
|
NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr)
|
rs1597638300
|
|
NM_000174.5(GP9):c.259T>C (p.Trp87Arg)
|
rs766253334
|
|
NM_000174.5(GP9):c.404G>T (p.Cys135Phe)
|
rs769561588
|
|
NM_000174.5(GP9):c.429G>A (p.Trp143Ter)
|
|
|
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
|
rs28933378
|
|
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser)
|
rs2065118116
|
|
NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys)
|
rs2065118116
|
|
NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser)
|
rs2143107081
|
|
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly)
|
rs1880497383
|
|
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr)
|
rs121918449
|
|
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter)
|
rs754250394
|
|
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro)
|
rs1598694640
|
|
NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser)
|
rs2143112826
|
|
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp)
|
rs1255017270
|
|
NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg)
|
rs2143113460
|
|
NM_000212.3(ITGB3):c.1543del (p.Arg515fs)
|
rs2143113675
|
|
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr)
|
rs2065130922
|
|
NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe)
|
|
|
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly)
|
|
|
NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp)
|
rs185135224
|
|
NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser)
|
rs1395325049
|
|
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter)
|
rs1057518837
|
|
NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg)
|
rs2065157102
|
|
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)
|
|
|
NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly)
|
rs747534508
|
|
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser)
|
|
|
NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp)
|
rs2143130130
|
|
NM_000212.3(ITGB3):c.1913+5G>T
|
rs764779088
|
|
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter)
|
rs2143133343
|
|
NM_000212.3(ITGB3):c.2014+5G>A
|
rs2143133455
|
|
NM_000212.3(ITGB3):c.2015-644_2134+2135del
|
|
|
NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val)
|
rs1205019601
|
|
NM_000212.3(ITGB3):c.2187_2203delinsTCATTGGCTCA (p.Ile730_Leu735delinsHisTrpLeuIle)
|
|
|
NM_000212.3(ITGB3):c.2217del (p.Ile740fs)
|
rs2143150614
|
|
NM_000212.3(ITGB3):c.2227CTC[1] (p.Leu744del)
|
rs1598702827
|
|
NM_000212.3(ITGB3):c.2278C>T (p.Arg760Cys)
|
rs1431211616
|
|
NM_000212.3(ITGB3):c.325del (p.Val109fs)
|
rs1567764064
|
|
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe)
|
rs72547409
|
|
NM_000212.3(ITGB3):c.362-1G>A
|
rs1567764299
|
|
NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro)
|
rs201806801
|
|
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys)
|
rs1739770567
|
|
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn)
|
rs121918445
|
|
NM_000212.3(ITGB3):c.448A>G (p.Met150Val)
|
rs767548512
|
|
NM_000212.3(ITGB3):c.55dup (p.Ala19fs)
|
rs1302506624
|
|
NM_000212.3(ITGB3):c.567del (p.Tyr190fs)
|
|
|
NM_000212.3(ITGB3):c.614+1G>T
|
rs2065096678
|
|
NM_000212.3(ITGB3):c.646T>C (p.Tyr216His)
|
|
|
NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys)
|
rs2065102310
|
|
NM_000212.3(ITGB3):c.655G>A (p.Val219Met)
|
|
|
NM_000212.3(ITGB3):c.727G>C (p.Asp243His)
|
rs1598690937
|
|
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly)
|
rs1057518838
|
|
NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys)
|
rs2065102917
|
|
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg)
|
rs1598690979
|
|
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter)
|
rs2143097219
|
|
NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)
|
|
|
NM_000212.3(ITGB3):c.842A>C (p.His281Pro)
|
rs2143098907
|
|
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter)
|
rs1193381168
|
|
NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del)
|
|
|
NM_000212.3(ITGB3):c.940-2A>G
|
rs2065117719
|
|
NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr)
|
rs2065117726
|
|
NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala)
|
rs2065117736
|
|
NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn)
|
rs2143105830
|
|
NM_000361.3(THBD):c.1611C>A (p.Cys537Ter)
|
rs1600409143
|
|
NM_000361.3(THBD):c.752G>A (p.Gly251Asp)
|
rs1287823727
|
|
NM_000377.3(WAS):c.1339-2A>G
|
rs2147267240
|
|
NM_000377.3(WAS):c.1416_1424del (p.His472_Met474del)
|
|
|
NM_000377.3(WAS):c.142A>C (p.Thr48Pro)
|
rs2062412197
|
|
NM_000377.3(WAS):c.250T>C (p.Phe84Leu)
|
rs2147262951
|
|
NM_000377.3(WAS):c.373G>C (p.Gly125Arg)
|
rs2147263882
|
|
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
|
|
|
NM_000377.3(WAS):c.463+1G>A
|
|
|
NM_000377.3(WAS):c.70T>C (p.Ser24Pro)
|
rs2062410722
|
|
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)
|
rs121909752
|
|
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del)
|
rs1601248578
|
|
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)
|
|
|
NM_000407.5(GP1BB):c.272G>A (p.Trp91Ter)
|
|
|
NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr)
|
|
|
NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)
|
|
|
NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln)
|
rs1601248859
|
|
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)
|
rs2145796377
|
|
NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter)
|
rs953345181
|
|
NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro)
|
rs1601248889
|
|
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter)
|
rs1402804629
|
|
NM_000407.5(GP1BB):c.448del (p.Ala150fs)
|
rs1360071443
|
|
NM_000407.5(GP1BB):c.462_511del (p.Gln154fs)
|
|
|
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)
|
rs1601248210
|
|
NM_000407.5(GP1BB):c.491dup (p.His164fs)
|
|
|
NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup)
|
rs1601249021
|
|
NM_000407.5(GP1BB):c.536_545del (p.Arg179fs)
|
|
|
NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu)
|
rs2145795850
|
|
NM_000419.4:c.(1210+1_1211-1)_(1878+1_1879-1)del
|
|
|
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln)
|
rs1598381654
|
|
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr)
|
rs2048616842
|
|
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
|
|
|
NM_000419.5(ITGA2B):c.1139G>T (p.Gly380Val)
|
rs766006685
|
|
NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys)
|
rs2048613694
|
|
NM_000419.5(ITGA2B):c.1210+5G>A
|
rs2143475577
|
|
NM_000419.5(ITGA2B):c.1211-1G>C
|
rs1598380380
|
|
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg)
|
rs780786843
|
|
NM_000419.5(ITGA2B):c.1259T>C (p.Val420Ala)
|
rs2048592296
|
|
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)
|
rs1598380253
|
|
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del)
|
rs780017389
|
|
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs)
|
rs2143506473
|
|
NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro)
|
|
|
NM_000419.5(ITGA2B):c.1545-1G>A
|
|
|
NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn)
|
|
|
NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter)
|
|
|
NM_000419.5(ITGA2B):c.1753-1G>A
|
rs2048578129
|
|
NM_000419.5(ITGA2B):c.188G>A (p.Arg63Lys)
|
rs767688038
|
|
NM_000419.5(ITGA2B):c.1946+2T>G
|
|
|
NM_000419.5(ITGA2B):c.1946+3G>T
|
|
|
NM_000419.5(ITGA2B):c.2029G>A (p.Glu677Lys)
|
rs2143450843
|
|
NM_000419.5(ITGA2B):c.2063C>T (p.Ala688Val)
|
rs1245816431
|
|
NM_000419.5(ITGA2B):c.2095-19T>A
|
rs2143447856
|
|
NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg)
|
|
|
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro)
|
rs2143447451
|
|
NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile)
|
rs2143447323
|
|
NM_000419.5(ITGA2B):c.224del (p.Gly75fs)
|
rs1567906131
|
|
NM_000419.5(ITGA2B):c.2254C>G (p.Leu752Val)
|
|
|
NM_000419.5(ITGA2B):c.2264G>C (p.Arg755Pro)
|
rs763762304
|
|
NM_000419.5(ITGA2B):c.2326_2331dup (p.Glu776_Ala777dup)
|
rs2143440798
|
|
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)
|
rs1598377051
|
|
NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn)
|
rs1196551352
|
|
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys)
|
rs2048541187
|
|
NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu)
|
rs1166506747
|
|
NM_000419.5(ITGA2B):c.2478dup (p.Gly827fs)
|
|
|
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala)
|
rs759664025
|
|
NM_000419.5(ITGA2B):c.2561dup (p.Leu855fs)
|
|
|
NM_000419.5(ITGA2B):c.2602-2A>G
|
rs2143436505
|
|
NM_000419.5(ITGA2B):c.2613del (p.Leu872fs)
|
rs2048535976
|
|
NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe)
|
rs77458039
|
|
NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln)
|
rs2048524687
|
|
NM_000419.5(ITGA2B):c.2898_2902dup (p.Tyr968fs)
|
rs2143429307
|
|
NM_000419.5(ITGA2B):c.2929_2930del (p.Glu979fs)
|
rs2143428858
|
|
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs)
|
rs2048523431
|
|
NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys)
|
rs2048521744
|
|
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs)
|
rs2048521625
|
|
NM_000419.5(ITGA2B):c.2975del (p.Glu992fs)
|
rs1467071163
|
|
NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs)
|
rs1291802895
|
|
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)
|
rs766503255
|
|
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln)
|
rs879255514
|
|
NM_000419.5(ITGA2B):c.3091del (p.Leu1031fs)
|
|
|
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs)
|
rs2143417444
|
|
NM_000419.5(ITGA2B):c.310+3_310+6del
|
|
|
NM_000419.5(ITGA2B):c.3115_3119dup (p.Ter1040TrpextTer?)
|
rs2048504402
|
|
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)
|
rs2048642260
|
|
NM_000419.5(ITGA2B):c.416C>T (p.Ala139Val)
|
rs2143489510
|
|
NM_000419.5(ITGA2B):c.423G>T (p.Trp141Cys)
|
rs2143489430
|
|
NM_000419.5(ITGA2B):c.460_462del (p.Glu154del)
|
rs747956782
|
|
NM_000419.5(ITGA2B):c.475G>A (p.Gly159Ser)
|
|
|
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val)
|
rs2048641442
|
|
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg)
|
rs1279297832
|
|
NM_000419.5(ITGA2B):c.48G>A (p.Trp16Ter)
|
|
|
NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His)
|
|
|
NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu)
|
rs148327798
|
|
NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met)
|
rs2048639927
|
|
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter)
|
rs1416238665
|
|
NM_000419.5(ITGA2B):c.559del (p.Val187fs)
|
rs1469711487
|
|
NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val)
|
rs2048639566
|
|
NM_000419.5(ITGA2B):c.574+5G>A
|
rs1598383011
|
|
NM_000419.5(ITGA2B):c.574+5G>C
|
rs1598383011
|
|
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
|
|
|
NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser)
|
rs2048635741
|
|
NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile)
|
rs2143485911
|
|
NM_000419.5(ITGA2B):c.641T>G (p.Leu214Arg)
|
rs137852911
|
|
NM_000419.5(ITGA2B):c.647C>T (p.Ala216Val)
|
rs2143485154
|
|
NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys)
|
rs1355838837
|
|
NM_000419.5(ITGA2B):c.671-1G>A
|
rs2048632400
|
|
NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)
|
rs483352692
|
|
NM_000419.5(ITGA2B):c.800-1G>A
|
|
|
NM_000419.5(ITGA2B):c.800-2A>G
|
rs2143481938
|
|
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu)
|
rs2048627164
|
|
NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly)
|
rs2143481840
|
|
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp)
|
rs137852907
|
|
NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile)
|
rs2143481657
|
|
NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp)
|
rs2143480810
|
|
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg)
|
rs753264426
|
|
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro)
|
rs531610168
|
|
NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu)
|
|
|
NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser)
|
|
|
NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp)
|
rs2048619921
|
|
NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val)
|
rs2048619898
|
|
NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe)
|
rs2048619428
|
|
NM_000419.5(ITGA2B):c.998+1G>C
|
rs1598381778
|
|
NM_000460.4(THPO):c.13+2T>C
|
rs1714390786
|
|
NM_000460.4(THPO):c.91C>T (p.Arg31Ter)
|
|
|
NM_000504.4(F10):c.1325G>A (p.Gly442Asp)
|
rs1233330150
|
|
NM_000552.5(VWF):c.7090A>T (p.Lys2364Ter)
|
|
|
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs)
|
rs757570230
|
|
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del)
|
rs550565800
|
|
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs)
|
rs757142781
|
|
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs)
|
rs771061715
|
|
NM_001001548.3(CD36):c.161G>A (p.Trp54Ter)
|
|
|
NM_001001548.3(CD36):c.186C>G (p.Tyr62Ter)
|
|
|
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)
|
rs780114238
|
|
NM_001001548.3(CD36):c.511del (p.Gln171fs)
|
|
|
NM_001001548.3(CD36):c.660_664del (p.Asn220fs)
|
rs768699378
|
|
NM_001001548.3(CD36):c.660_669del (p.Asn220fs)
|
rs778808650
|
|
NM_001001548.3(CD36):c.787_808del (p.Val263fs)
|
rs754365623
|
|
NM_001001548.3(CD36):c.949dup (p.Ile317fs)
|
rs70961716
|
|
NM_001001548.3(CD36):c.971C>G (p.Ser324Ter)
|
rs751804837
|
|
NM_001025356.3(ANO6):c.1914_1915del (p.Arg638fs)
|
rs750168369
|
|
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs)
|
rs760698812
|
|
NM_001083899.2(GP6):c.356_360del (p.Gln119fs)
|
|
|
NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro)
|
rs200434813
|
|
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs)
|
rs774996406
|
|
NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs)
|
rs1555122100
|
|
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)
|
rs752492512
|
|
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)
|
rs1060499609
|
|
NM_001098671.2(RASGRP2):c.742G>C (p.Gly248Arg)
|
rs587777529
|
|
NM_001098671.2(RASGRP2):c.887G>A (p.Cys296Tyr)
|
rs2135765010
|
|
NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp)
|
rs1592371840
|
|
NM_001128227.2(GNE):c.1376delG
|
rs1057516705
|
|
NM_001128227.3(GNE):c.51+2T>A
|
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)
|
rs1554664090
|
|
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)
|
rs869320716
|
|
NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn)
|
rs869320715
|
|
NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp)
|
rs869320714
|
|
NM_001130004.1(ACTN1):c.[2156A>C;2157G>C]
|
|
|
NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr)
|
rs1594768463
|
|
NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)
|
rs769375482
|
|
NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val)
|
rs1594760140
|
|
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys)
|
rs1594760036
|
|
NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His)
|
rs751173836
|
|
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp)
|
rs747559032
|
|
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)
|
rs387907348
|
|
NM_001130004.2(ACTN1):c.1592A>T (p.Asp531Val)
|
rs1594758046
|
|
NM_001130004.2(ACTN1):c.1592_1593insGGGGCCATGGAG (p.Asp531delinsGluGlyProTrpSer)
|
rs1594758038
|
|
NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr)
|
rs1594755688
|
|
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)
|
rs372031019
|
|
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg)
|
rs1555343284
|
|
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)
|
rs2140067871
|
|
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)
|
rs1594751659
|
|
NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)
|
|
|
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)
|
rs192640536
|
|
NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp)
|
rs2140302263
|
|
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)
|
rs1594773549
|
|
NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu)
|
rs1594771270
|
|
NM_001130004.2(ACTN1):c.982G>A (p.Val328Met)
|
rs1594771236
|
|
NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg)
|
rs1594771224
|
|
NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp)
|
rs2133384781
|
|
NM_001372123.1(IKZF5):c.296_300delinsTGTGGATT (p.Glu99_His100delinsValTrpIle)
|
|
|
NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro)
|
rs1849295075
|
|
NM_001372123.1(IKZF5):c.362A>T (p.Tyr121Phe)
|
|
|
NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu)
|
rs2133379889
|
|
NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile)
|
rs376762177
|
|
NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro)
|
rs570058270
|
|
NM_001382567.1(STIM1):c.1568-1G>T
|
|
|
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)
|
rs748277951
|
|
NM_001382567.1(STIM1):c.251A>C (p.Asp84Ala)
|
|
|
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)
|
rs2135736648
|
|
NM_001382567.1(STIM1):c.270+2T>C
|
|
|
NM_001382567.1(STIM1):c.386-1G>A
|
rs2133083597
|
|
NM_001382567.1(STIM1):c.563A>G (p.Gln188Arg)
|
|
|
NM_001382567.1(STIM1):c.792-1G>A
|
|
|
NM_001754.5(RUNX1):c.1164del (p.Ser389fs)
|
rs1601333051
|
|
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly)
|
rs2056452215
|
|
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)
|
rs2056451534
|
|
NM_001754.5(RUNX1):c.320G>A (p.Arg107His)
|
rs1569084106
|
|
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser)
|
rs1186716957
|
|
NM_001754.5(RUNX1):c.508+1G>A
|
rs1601515718
|
|
NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn)
|
rs1601470652
|
|
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala)
|
rs2057541324
|
|
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)
|
rs1569061786
|
|
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)
|
rs1569061768
|
|
NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter)
|
rs1601416036
|
|
NM_001754.5(RUNX1):c.784C>T (p.Gln262Ter)
|
rs1601415426
|
|
NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter)
|
rs121912499
|
|
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter)
|
rs1569008655
|
|
NM_001791.4(CDC42):c.137T>C (p.Ile46Thr)
|
rs1570024112
|
|
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)
|
rs864309721
|
|
NM_001791.4(CDC42):c.227A>T (p.Asp76Val)
|
|
|
NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp)
|
rs1591749480
|
|
NM_001987.5(ETV6):c.1196G>A (p.Arg399His)
|
rs2136602321
|
|
NM_001987.5(ETV6):c.1201T>C (p.Tyr401His)
|
rs1591750551
|
|
NM_001987.5(ETV6):c.1254-2A>C
|
|
|
NM_001987.5(ETV6):c.133del (p.Glu45fs)
|
|
|
NM_001987.5(ETV6):c.313C>T (p.Arg105Ter)
|
rs1946357179
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
NM_001987.5(ETV6):c.968C>G (p.Ser323Cys)
|
|
|
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)
|
rs1064797083
|
|
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)
|
rs1064797086
|
|
NM_002017.5(FLI1):c.1019G>C (p.Arg340Pro)
|
rs1131691896
|
|
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys)
|
rs1064797084
|
|
NM_002017.5(FLI1):c.852G>T (p.Trp284Cys)
|
rs1942909159
|
|
NM_002017.5(FLI1):c.946G>T (p.Glu316Ter)
|
rs2135925063
|
|
NM_002017.5(FLI1):c.992_995del (p.Asn331fs)
|
rs1064797085
|
|
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)
|
rs587776456
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)
|
rs104894816
|
|
NM_002049.4(GATA1):c.680C>T (p.Ala227Val)
|
rs1602220307
|
|
NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn)
|
rs1603483388
|
|
NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)
|
|
|
NM_002473.6(MYH9):c.167_169del (p.Val56del)
|
rs2146392922
|
|
NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser)
|
rs80338826
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr)
|
rs1364444432
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)
|
rs1603484048
|
|
NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg)
|
rs2146345102
|
|
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)
|
rs1603483077
|
|
NM_002473.6(MYH9):c.2668del (p.Gln890fs)
|
rs1603483058
|
|
NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)
|
|
|
NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly)
|
|
|
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)
|
rs1603484047
|
|
NM_002473.6(MYH9):c.284C>T (p.Ala95Val)
|
rs2146392811
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_002473.6(MYH9):c.3244GAG[2] (p.Glu1084del)
|
|
|
NM_002473.6(MYH9):c.3486G>T (p.Arg1162Ser)
|
rs2016767710
|
|
NM_002473.6(MYH9):c.4249C>T (p.Arg1417Trp)
|
|
|
NM_002473.6(MYH9):c.4250G>A (p.Arg1417Gln)
|
rs2016714761
|
|
NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)
|
rs867593888
|
|
NM_002473.6(MYH9):c.4272C>A (p.Asp1424Glu)
|
rs1397006934
|
|
NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly)
|
rs797044804
|
|
NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val)
|
rs797044804
|
|
NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)
|
|
|
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)
|
rs727503284
|
|
NM_002473.6(MYH9):c.4712G>A (p.Arg1571Gln)
|
|
|
NM_002473.6(MYH9):c.5800del (p.Met1934fs)
|
rs1603482652
|
|
NM_002473.6(MYH9):c.5808del (p.Gly1938fs)
|
rs1603482650
|
|
NM_002473.6(MYH9):c.97T>G (p.Trp33Gly)
|
rs1603484060
|
|
NM_003745.2(SOCS1):c.24del (p.Ala9fs)
|
rs2069587477
|
|
NM_003745.2(SOCS1):c.368C>G (p.Pro123Arg)
|
rs1244284678
|
|
NM_003745.2(SOCS1):c.476_480dup (p.Met161fs)
|
rs1470306246
|
|
NM_004991.4(MECOM):c.1678C>T (p.Gln560Ter)
|
rs1577005203
|
|
NM_004991.4(MECOM):c.2398A>T (p.Lys800Ter)
|
rs1475580175
|
|
NM_004991.4(MECOM):c.2772-4A>G
|
|
|
NM_004991.4(MECOM):c.739C>T (p.Gln247Ter)
|
|
|
NM_005105.5(RBM8A):c.336_342+2del
|
rs1648166006
|
|
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter)
|
rs139770726
|
|
NM_005373.3(MPL):c.1058del (p.His353fs)
|
|
|
NM_005373.3(MPL):c.1145_1146insAAGGATGTGAATAA (p.Pro382_Phe383insArgMetTer)
|
|
|
NM_005373.3(MPL):c.1145del (p.Pro382fs)
|
|
|
NM_005373.3(MPL):c.1165+1G>C
|
rs775550081
|
|
NM_005373.3(MPL):c.1166-1G>C
|
rs2153918730
|
|
NM_005373.3(MPL):c.1192del (p.Trp398fs)
|
rs1647059319
|
|
NM_005373.3(MPL):c.1270_1271del (p.Gln424fs)
|
|
|
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)
|
rs1553128241
|
|
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
|
|
|
NM_005373.3(MPL):c.1308+2T>G
|
|
|
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs)
|
|
|
NM_005373.3(MPL):c.1468+1G>A
|
|
|
NM_005373.3(MPL):c.1468+2T>C
|
rs1057517761
|
|
NM_005373.3(MPL):c.1469-1G>T
|
rs771729218
|
|
NM_005373.3(MPL):c.1469-2A>T
|
|
|
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs)
|
|
|
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)
|
rs121913614
|
|
NM_005373.3(MPL):c.155G>A (p.Trp52Ter)
|
|
|
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)
|
|
|
NM_005373.3(MPL):c.1653+2T>C
|
|
|
NM_005373.3(MPL):c.1671dup (p.Asp558fs)
|
rs1647100516
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)
|
rs121913612
|
|
NM_005373.3(MPL):c.212+1G>A
|
rs142565191
|
|
NM_005373.3(MPL):c.213-1G>A
|
|
|
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
|
rs1406715863
|
|
NM_005373.3(MPL):c.244C>T (p.Gln82Ter)
|
rs1647009785
|
|
NM_005373.3(MPL):c.269G>A (p.Arg90Gln)
|
rs766638870
|
|
NM_005373.3(MPL):c.280C>T (p.Gln94Ter)
|
rs1647010155
|
|
NM_005373.3(MPL):c.292C>T (p.Gln98Ter)
|
|
|
NM_005373.3(MPL):c.305G>A (p.Arg102His)
|
rs28928907
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005373.3(MPL):c.351_352insTGTCTCTTATA (p.Gln118fs)
|
|
|
NM_005373.3(MPL):c.365_366delinsT (p.Gln122fs)
|
|
|
NM_005373.3(MPL):c.398del (p.Pro133fs)
|
|
|
NM_005373.3(MPL):c.407C>A (p.Pro136His)
|
rs764904424
|
|
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
|
|
|
NM_005373.3(MPL):c.408_409del (p.Ser137fs)
|
|
|
NM_005373.3(MPL):c.413del (p.Ile138fs)
|
rs1343123940
|
|
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs)
|
|
|
NM_005373.3(MPL):c.461G>A (p.Trp154Ter)
|
rs1647014537
|
|
NM_005373.3(MPL):c.56del (p.Asn19fs)
|
|
|
NM_005373.3(MPL):c.579C>A (p.Cys193Ter)
|
|
|
NM_005373.3(MPL):c.680del (p.Pro227fs)
|
|
|
NM_005373.3(MPL):c.690+2T>A
|
rs2153916885
|
|
NM_005373.3(MPL):c.690+2T>C
|
|
|
NM_005373.3(MPL):c.695C>A (p.Ser232Ter)
|
rs1647019292
|
|
NM_005373.3(MPL):c.731C>A (p.Ser244Ter)
|
|
|
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter)
|
rs1647019645
|
|
NM_005373.3(MPL):c.758G>A (p.Trp253Ter)
|
rs1647019692
|
|
NM_005373.3(MPL):c.761T>C (p.Leu254Pro)
|
|
|
NM_005373.3(MPL):c.763C>T (p.Gln255Ter)
|
rs771519257
|
|
NM_005373.3(MPL):c.79+1G>A
|
|
|
NM_005373.3(MPL):c.79+1G>T
|
rs1647004958
|
|
NM_005373.3(MPL):c.807G>A (p.Trp269Ter)
|
rs1647020318
|
|
NM_005373.3(MPL):c.815G>A (p.Trp272Ter)
|
rs760059307
|
|
NM_005373.3(MPL):c.854-1G>A
|
|
|
NM_005373.3(MPL):c.862_864delinsT (p.Gly288fs)
|
|
|
NM_005373.3(MPL):c.973A>T (p.Arg325Ter)
|
|
|
NM_005373.3(MPL):c.980+2T>A
|
rs1647023010
|
|
NM_005373.3(MPL):c.98C>A (p.Ser33Ter)
|
rs1228227826
|
|
NM_005373.3(MPL):c.992G>A (p.Trp331Ter)
|
|
|
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)
|
rs983424324
|
|
NM_005476.7(GNE):c.1026_1027del (p.Lys342fs)
|
|
|
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)
|
|
|
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter)
|
rs1829027066
|
|
NM_005476.7(GNE):c.1070+2dup
|
rs886043636
|
|
NM_005476.7(GNE):c.1071-2A>C
|
|
|
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)
|
rs1828929851
|
|
NM_005476.7(GNE):c.1113_1114delinsT (p.Leu371fs)
|
|
|
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter)
|
rs1828921198
|
|
NM_005476.7(GNE):c.1158del (p.Lys386fs)
|
rs1057516275
|
|
NM_005476.7(GNE):c.1222del (p.Ser408fs)
|
|
|
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter)
|
rs1828914261
|
|
NM_005476.7(GNE):c.1262T>C (p.Val421Ala)
|
rs1057516364
|
|
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)
|
rs1828703342
|
|
NM_005476.7(GNE):c.1305del (p.Gln436fs)
|
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
NM_005476.7(GNE):c.1411+1G>C
|
|
|
NM_005476.7(GNE):c.1411+1del
|
rs1057516597
|
|
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)
|
rs1439999698
|
|
NM_005476.7(GNE):c.1417del (p.Ser473fs)
|
rs1057516965
|
|
NM_005476.7(GNE):c.1457T>C (p.Leu486Pro)
|
rs774867424
|
|
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn)
|
rs1563930321
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)
|
rs1554658910
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs)
|
rs1057516340
|
|
NM_005476.7(GNE):c.165-1del
|
|
|
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)
|
rs886043979
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del)
|
rs762796465
|
|
NM_005476.7(GNE):c.1740del (p.Cys581fs)
|
rs1554658453
|
|
NM_005476.7(GNE):c.1781del (p.Met594fs)
|
rs1057517157
|
|
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)
|
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.1817-2A>G
|
|
|
NM_005476.7(GNE):c.1868del (p.Gly623fs)
|
|
|
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)
|
rs1554657922
|
|
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)
|
rs766420673
|
|
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)
|
rs769716748
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)
|
rs748704459
|
|
NM_005476.7(GNE):c.388del (p.Ile130fs)
|
rs1423445315
|
|
NM_005476.7(GNE):c.435_438del (p.Ile146fs)
|
rs1057516915
|
|
NM_005476.7(GNE):c.445G>T (p.Ala149Ser)
|
rs1563946658
|
|
NM_005476.7(GNE):c.448A>G (p.Ile150Val)
|
rs758814313
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
NM_005476.7(GNE):c.616+1del
|
rs1554663295
|
|
NM_005476.7(GNE):c.616G>A (p.Gly206Ser)
|
rs766266918
|
|
NM_005476.7(GNE):c.617-1G>A
|
rs1256419231
|
|
NM_005476.7(GNE):c.617-2A>G
|
rs1554661582
|
|
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)
|
|
|
NM_005476.7(GNE):c.630dup (p.Ser211fs)
|
rs1554661569
|
|
NM_005476.7(GNE):c.636dup (p.Asp213fs)
|
rs1057517094
|
|
NM_005476.7(GNE):c.640del (p.Tyr214fs)
|
rs1554661561
|
|
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)
|
rs1057516906
|
|
NM_005476.7(GNE):c.669_675del (p.Thr224fs)
|
|
|
NM_005476.7(GNE):c.680dup (p.His228fs)
|
rs1554661552
|
|
NM_005476.7(GNE):c.694del (p.Met232fs)
|
rs1554661549
|
|
NM_005476.7(GNE):c.79C>T (p.Pro27Ser)
|
rs1554664064
|
|
NM_005476.7(GNE):c.811G>T (p.Glu271Ter)
|
rs1829294478
|
|
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)
|
rs1057516746
|
|
NM_005476.7(GNE):c.878A>G (p.His293Arg)
|
|
|
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)
|
rs755743750
|
|
NM_005476.7(GNE):c.926dup (p.Ala310fs)
|
|
|
NM_005476.7(GNE):c.934_937del (p.Gly312fs)
|
|
|
NM_005476.7(GNE):c.955G>T (p.Gly319Ter)
|
rs1829284405
|
|
NM_005476.7(GNE):c.961C>T (p.Arg321Cys)
|
rs1554661030
|
|
NM_005476.7(GNE):c.982+2T>A
|
rs2133067872
|
|
NM_014915.3(ANKRD26):c.-107C>T
|
|
|
NM_014915.3(ANKRD26):c.-116C>G
|
rs1589393739
|
|
NM_014915.3(ANKRD26):c.-116C>T
|
rs1589393739
|
|
NM_014915.3(ANKRD26):c.-118C>A
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-118C>G
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-118C>T
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-119C>G
|
rs1554800065
|
|
NM_014915.3(ANKRD26):c.-127A>T
|
rs1589393799
|
|
NM_014915.3(ANKRD26):c.-128G>C
|
rs1589393809
|
|
NM_014915.3(ANKRD26):c.-128G>T
|
rs1589393809
|
|
NM_014915.3(ANKRD26):c.-134G>A
|
rs863223318
|
|
NM_014915.3(ANKRD26):c.2329_2332del (p.Leu777fs)
|
rs778333097
|
|
NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter)
|
rs1589257502
|
|
NM_014915.3(ANKRD26):c.4995_4998del (p.Glu1666fs)
|
rs1564348376
|
|
NM_015175.2(NBEAL2):c.6920delG
|
rs948953674
|
|
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs)
|
rs2107337553
|
|
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp)
|
rs2107346255
|
|
NM_015175.3(NBEAL2):c.3773_3774insCAGCGTTCGCCTC (p.Asp1259fs)
|
|
|
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
|
|
|
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
|
|
|
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs)
|
rs2107413869
|
|
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs)
|
rs2107416663
|
|
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr)
|
rs1575619957
|
|
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
|
rs771025246
|
|
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys)
|
rs1339171276
|
|
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln)
|
rs762258197
|
|
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter)
|
rs2107437335
|
|
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
|
|
|
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)
|
rs2107445568
|
|
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys)
|
rs2037417315
|
|
NM_015175.3(NBEAL2):c.7103dup (p.His2368fs)
|
rs2107448208
|
|
NM_015175.3(NBEAL2):c.7225-1G>C
|
rs1575628744
|
|
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs)
|
rs2107453711
|
|
NM_018947.6(CYCS):c.124G>A (p.Gly42Ser)
|
rs121918552
|
|
NM_018947.6(CYCS):c.155C>T (p.Ala52Val)
|
rs1783401850
|
|
NM_018947.6(CYCS):c.290C>A (p.Ala97Asp)
|
|
|
NM_018947.6(CYCS):c.295C>G (p.Leu99Val)
|
rs1583394629
|
|
NM_018947.6(CYCS):c.308C>T (p.Thr103Ile)
|
rs1583394618
|
|
NM_020207.7(ERCC6L2):c.2474_2484delinsAAAG (p.Thr825fs)
|
rs2133079257
|
|
NM_020207.7:c.[2156delG];[3300_3303delTCAA]
|
|
|
NM_022788.5(P2RY12):c.469_470del (p.Leu157fs)
|
|
|
NM_022788.5(P2RY12):c.662dup (p.Arg222fs)
|
|
|
NM_030773.4(TUBB1):c.1080dup (p.Leu361fs)
|
rs1300096139
|
|
NM_030773.4(TUBB1):c.166+1G>C
|
|
|
NM_030773.4(TUBB1):c.57+1G>A
|
rs376073390
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_030773.4(TUBB1):c.945C>A (p.Cys315Ter)
|
rs1601239459
|
|
NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs)
|
rs2130845614
|
|
NM_139027.6(ADAMTS13):c.1585-1G>C
|
rs1554789680
|
|
NM_139027.6(ADAMTS13):c.1705+1G>A
|
|
|
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)
|
|
|
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe)
|
rs281875307
|
|
NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp)
|
rs1841759683
|
|
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met)
|
rs281875302
|
|
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr)
|
rs1554795391
|
|
NM_139027.6(ADAMTS13):c.330+1G>A
|
rs375415632
|
|
NM_139027.6(ADAMTS13):c.3400+143del
|
rs1060499780
|
|
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)
|
rs281875291
|
|
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del)
|
rs1554797078
|
|
NM_139027.6(ADAMTS13):c.415-1G>A
|
rs1554785114
|
|
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His)
|
rs281875337
|
|
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)
|
rs2130769073
|
|
NM_139279.6(MCFD2):c.364G>A (p.Asp122Asn)
|
rs1668185105
|
|
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
|
rs879255268
|
|
Single allele
|
|
|