ClinVar Miner

List of variants reported as likely pathogenic for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 691
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

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