ClinVar Miner

List of variants studied for hematologic disorder by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 650
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000552.5(VWF):c.1463C>G (p.Ala488Gly) rs144817575 0.00098
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_019616.4(F7):c.-30A>C rs539578931 0.00048
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_000552.5(VWF):c.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
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_000128.4(F11):c.1305-5C>T rs375998777 0.00032
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000132.4(F8):c.3980C>T (p.Thr1327Met) rs200520711 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 0.00009
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_000128.4(F11):c.1118T>C (p.Leu373Ser) rs375440170 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.802C>T (p.Arg268Cys) rs763496524 0.00005
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln) rs200358667 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000552.5(VWF):c.7450G>A (p.Val2484Ile) rs139864572 0.00005
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000552.5(VWF):c.1514G>A (p.Arg505His) rs139830291 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu) rs777556669 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys) rs369970893 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000313.4(PROS1):c.137T>C (p.Leu46Pro) rs779469907 0.00003
NM_000313.4(PROS1):c.353C>T (p.Pro118Leu) rs761574063 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000552.5(VWF):c.6421G>A (p.Val2141Ile) rs923531708 0.00003
NM_000552.5(VWF):c.993C>A (p.Cys331Ter) rs147924974 0.00003
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00003
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) rs150269540 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000132.4(F8):c.1093T>C (p.Tyr365His) rs782216863 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_030773.4(TUBB1):c.28G>C (p.Gly10Arg) rs747029495 0.00002
NM_181507.2(HPS5):c.2718-12A>G rs759757206 0.00002
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00002
NM_000128.4(F11):c.1199C>T (p.Pro400Leu) rs533335580 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.359T>C (p.Met120Thr) rs767727775 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.728C>T (p.Ser243Phe) rs1262002209 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) rs201790842 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 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_000298.6(PKLR):c.1291G>A (p.Ala431Thr) rs762591322 0.00001
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000312.4(PROC):c.1237A>G (p.Thr413Ala) rs572021052 0.00001
NM_000312.4(PROC):c.524G>A (p.Cys175Tyr) rs199469474 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg) rs1302089144 0.00001
NM_000407.5(GP1BB):c.212C>T (p.Pro71Leu) rs1424014771 0.00001
NM_000407.5(GP1BB):c.434C>G (p.Pro145Arg) rs1051842719 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.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp) rs757116551 0.00001
NM_000419.5(ITGA2B):c.409-1G>A rs1393747638 0.00001
NM_000419.5(ITGA2B):c.624+5G>A rs373730428 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000504.4(F10):c.400G>A (p.Gly134Arg) rs368225671 0.00001
NM_000504.4(F10):c.535C>T (p.Arg179Cys) rs1277295882 0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 0.00001
NM_000552.5(VWF):c.1001G>A (p.Gly334Glu) rs932134873 0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser) rs765163545 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3251G>A (p.Cys1084Tyr) rs759805079 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys) rs373787920 0.00001
NM_000552.5(VWF):c.4360G>A (p.Val1454Ile) rs533417176 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg) rs746837624 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr) rs753406078 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter) rs779048554 0.00001
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys) rs775434135 0.00001
NM_005373.3(MPL):c.263G>A (p.Gly88Glu) rs587778516 0.00001
NM_005373.3(MPL):c.391G>A (p.Gly131Ser) rs775250202 0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) rs1235183015 0.00001
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His) rs1362658024 0.00001
NM_015175.3(NBEAL2):c.4485-1G>T rs763842878 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=) rs1320380958 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939 0.00001
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019616.4(F7):c.615+1G>T rs769452933 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_019616.4(F7):c.739+5G>A rs746625213 0.00001
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg) rs772897521 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139279.6(MCFD2):c.149+5G>A rs387906286 0.00001
NC_000001.11:g.173911749_173917428del
NC_000001.11:g.173916290_173918404del
NC_000021.8:g.35304341_36865875del
NC_000021.8:g.35304355_36865958del
NC_000021.8:g.36284364_37074805del
NC_000021.8:g.36318516_37184936del
NC_000021.8:g.36323351_37470324del
NC_000021.9:g.34791392_34804065del
NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn) rs1283517835
NM_000128.4(F11):c.-2G>C rs1580057911
NM_000128.4(F11):c.1106A>G (p.Tyr369Cys) rs1580090672
NM_000128.4(F11):c.1120T>C (p.Cys374Arg) rs1580090765
NM_000128.4(F11):c.1137G>C (p.Glu379Asp) rs1580098240
NM_000128.4(F11):c.1192G>A (p.Glu398Lys) rs746475013
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.4(F11):c.1646A>G (p.Tyr549Cys) rs755529772
NM_000128.4(F11):c.1699G>A (p.Gly567Arg) rs1580108251
NM_000128.4(F11):c.1751A>T (p.Asn584Ile) rs773581347
NM_000128.4(F11):c.1772G>C (p.Gly591Ala) rs1580110270
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.343del (p.Tyr115fs) rs1580075457
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.634G>A (p.Asp212Asn) rs1580080555
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter) rs757172838
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000129.4(F13A1):c.888C>G (p.Ser296Arg) rs778181928
NM_000130.5(F5):c.1297-2A>G rs762646464
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.5(F5):c.1671G>C (p.Trp557Cys) rs1571578995
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs) rs1571574574
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000132.4(F8):c.1020A>C (p.Glu340Asp) rs1603435286
NM_000132.4(F8):c.1034T>C (p.Val345Ala) rs1189348665
NM_000132.4(F8):c.1073dup (p.Asn358fs) rs1603435281
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1364T>G (p.Phe455Cys) rs1603435217
NM_000132.4(F8):c.143G>A (p.Arg48Lys) rs1261929809
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1621A>T (p.Thr541Ser) rs139526001
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1654T>C (p.Tyr552His) rs1603434863
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1898T>G (p.Met633Arg) rs1603434697
NM_000132.4(F8):c.2043G>C (p.Met681Ile) rs1603434460
NM_000132.4(F8):c.2099C>T (p.Ser700Leu) rs1359096117
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.3247_3248del (p.Met1083fs) rs1603433803
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4313dup (p.Ser1439fs) rs1603433756
NM_000132.4(F8):c.460A>C (p.Thr154Pro) rs1603436436
NM_000132.4(F8):c.5164G>A (p.Val1722Met) rs1603433719
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5219+2T>C rs1603433713
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.558C>A (p.Asp186Glu) rs1603436426
NM_000132.4(F8):c.5896A>C (p.Met1966Leu) rs1603432970
NM_000132.4(F8):c.5918A>T (p.His1973Leu) rs1273080258
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe) rs2073022685
NM_000132.4(F8):c.6082G>A (p.Gly2028Arg) rs1603432908
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6434T>G (p.Phe2145Cys) rs1603431562
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser) rs1603431561
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg) rs1603431512
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro) rs1603431506
NM_000132.4(F8):c.671-50_787+50del rs1603436123
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6776T>A (p.Val2259Asp) rs1603431479
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1106T>C (p.Leu369Pro) rs1603267393
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.521-35_723+84del rs1603265760
NM_000133.4(F9):c.724-5_731del rs1603267163
NM_000133.4(F9):c.757G>A (p.Gly253Arg) rs1603267181
NM_000133.4(F9):c.802T>A (p.Cys268Ser) rs1603267194
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.845A>G (p.His282Arg) rs753654616
NM_000133.4(F9):c.88+1G>A rs1603263397
NM_000133.4(F9):c.88+5G>T rs1603263401
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.4(F9):c.88G>C (p.Val30Leu) rs1603263395
NM_000133.4(F9):c.914A>G (p.Tyr305Cys) rs1603267332
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.449A>G (p.Asn150Ser) rs1597638745
NM_000173.7(GP1BA):c.470dup (p.Gly158fs) rs1597638753
NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser) rs1597639057
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) rs1386425657
NM_000212.3(ITGB3):c.2015-644_2134+2135del
NM_000212.3(ITGB3):c.2224A>G (p.Lys742Glu) rs1598702813
NM_000212.3(ITGB3):c.2227CTC[1] (p.Leu744del) rs1598702827
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg) rs1598690979
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln) rs1582940083
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly) rs1582955692
NM_000301.5(PLG):c.950+4A>G rs1582937995
NM_000312.4(PROC):c.1019C>A (p.Thr340Lys) rs766261022
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.1313T>C (p.Val438Ala) rs1573461697
NM_000312.4(PROC):c.1331G>A (p.Trp444Ter) rs1573461792
NM_000312.4(PROC):c.1368del (p.Lys457fs) rs1573461951
NM_000312.4(PROC):c.1378_1379dup (p.Pro461fs) rs1573462001
NM_000312.4(PROC):c.421T>C (p.Ser141Pro) rs1573444020
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) rs1247269491
NM_000312.4(PROC):c.532G>C (p.Ala178Pro) rs1254257945
NM_000312.4(PROC):c.76G>A (p.Val26Met) rs754243426
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.797-2A>T rs1186036467
NM_000312.4(PROC):c.819G>T (p.Trp273Cys) rs1573459299
NM_000312.4(PROC):c.908T>G (p.Leu303Arg) rs1573459781
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
NM_000313.3(PROS1):c.-168C>T rs199469484
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly) rs1576180176
NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn) rs1437372036
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000313.4(PROS1):c.1284del (p.Gly429fs) rs1576176794
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1405G>T (p.Glu469Ter) rs267599946
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys) rs1576175763
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1514del (p.Gly505fs) rs1576173175
NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys) rs199469500
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1908del (p.Phe635_Tyr636insTer) rs1576170618
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) rs1576170616
NM_000313.4(PROS1):c.1973A>G (p.His658Arg) rs1576170541
NM_000313.4(PROS1):c.49dup (p.Leu17fs) rs1575904540
NM_000313.4(PROS1):c.511T>G (p.Cys171Gly) rs1576186985
NM_000313.4(PROS1):c.550del (p.Cys184fs) rs1576186962
NM_000313.4(PROS1):c.785del (p.Gly262fs) rs1576182838
NM_000313.4(PROS1):c.913C>T (p.Gln305Ter) rs1395378093
NM_000313.4(PROS1):c.970T>C (p.Ser324Pro) rs1576180280
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.217T>A (p.Cys73Ser) rs1602176652
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter) rs536874549
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del) rs1601248578
NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln) rs1601248859
NM_000407.5(GP1BB):c.407A>G (p.Glu136Gly) rs1601248880
NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro) rs1601248889
NM_000407.5(GP1BB):c.448del (p.Ala150fs) rs1360071443
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup) rs1601249021
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln) rs1598381654
NM_000419.5(ITGA2B):c.1211-1G>C rs1598380380
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala) rs759664025
NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg) rs1598376647
NM_000419.5(ITGA2B):c.2750C>G (p.Thr917Ser) rs1598376124
NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) rs1598375779
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
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.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.574+5G>A rs1598383011
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1154-50_1218+50del rs1572086894
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys) rs1572084546
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp) rs1572084448
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln) rs1572084425
NM_000488.4(SERPINC1):c.155del (p.Met52fs) rs1572092103
NM_000488.4(SERPINC1):c.173dup (p.Glu59fs) rs1572092076
NM_000488.4(SERPINC1):c.322_327del (p.Ile108_Phe109del) rs1572091831
NM_000488.4(SERPINC1):c.400del (p.Gln133_Leu134insTer) rs1572091783
NM_000488.4(SERPINC1):c.550del (p.Thr185fs) rs1572090173
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer) rs1572088853
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys) rs1572088824
NM_000488.4(SERPINC1):c.801_805del (p.Lys268fs) rs1572088823
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys) rs1572088737
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494
NM_000504.4(F10):c.1087G>A (p.Gly363Ser) rs1595099527
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) rs1595099645
NM_000504.4(F10):c.1237G>A (p.Asp413Asn) rs1595099677
NM_000504.4(F10):c.1321G>A (p.Glu441Lys) rs1305872315
NM_000504.4(F10):c.1348G>A (p.Gly450Arg) rs1595099844
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.241T>G (p.Trp81Gly) rs1595092916
NM_000504.4(F10):c.702G>C (p.Arg234Ser) rs1595096266
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) rs1590715754
NM_000552.5(VWF):c.1293+2T>C rs1591895879
NM_000552.5(VWF):c.1339del (p.Arg447fs) rs1591895308
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.182T>C (p.Leu61Pro) rs1306914162
NM_000552.5(VWF):c.1841C>T (p.Ser614Phe) rs776987924
NM_000552.5(VWF):c.1974C>G (p.Tyr658Ter) rs761288966
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr) rs1591886521
NM_000552.5(VWF):c.221-10_532+52del rs1591924188
NM_000552.5(VWF):c.221-6_532+30del rs1591924208
NM_000552.5(VWF):c.2299T>C (p.Cys767Arg) rs1591880825
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs) rs1591874316
NM_000552.5(VWF):c.2686-7T>G rs1591871882
NM_000552.5(VWF):c.2921G>A (p.Trp974Ter) rs1591870340
NM_000552.5(VWF):c.2981G>A (p.Gly994Asp) rs1591867991
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3675-1G>A rs746457842
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys) rs1591863294
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu) rs61750069
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.435C>G (p.Asn145Lys) rs1591924311
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg) rs1591862393
NM_000552.5(VWF):c.4637T>G (p.Val1546Gly) rs1591862366
NM_000552.5(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer) rs1591862342
NM_000552.5(VWF):c.4727C>A (p.Thr1576Asn) rs1591862230
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4834G>C (p.Ala1612Pro) rs1591862118
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) rs1591862022
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.5(VWF):c.533-48_657+52del rs1591914708
NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg) rs61750610
NM_000552.5(VWF):c.5621-47_5842+51del rs1591857613
NM_000552.5(VWF):c.5849G>A (p.Cys1950Tyr) rs1591849732
NM_000552.5(VWF):c.6314C>T (p.Thr2105Ile) rs761604165
NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr) rs1591848387
NM_000552.5(VWF):c.6538T>C (p.Tyr2180His) rs1591848338
NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp) rs1232884671
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs) rs1591841452
NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr) rs1591838833
NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs) rs1591838814
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
NM_000552.5(VWF):c.7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7863del (p.Thr2622fs) rs1591834850
NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.5(VWF):c.814G>C (p.Ala272Pro) rs747799959
NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg) rs1591827147
NM_000552.5(VWF):c.8275A>G (p.Met2759Val) rs776211115
NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu) rs1591826730
NM_000760.4(CSF3R):c.1576+1G>A rs1031224658
NM_000975.5(RPL11):c.142_143dup (p.Val49fs) rs1570566714
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) rs1575824608
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs) rs1575723664
NM_001029.5(RPS26):c.312+2T>A rs1593023809
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro) rs200434813
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) rs774996406
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs) rs752492512
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn) rs869320715
NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp) rs869320714
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) rs747559032
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.1600G>C (p.Asp534His) rs1594758027
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys) rs867564562
NM_001130004.2(ACTN1):c.415A>G (p.Ile139Val) rs1594803107
NM_001130004.2(ACTN1):c.652A>G (p.Ile218Val) rs1594790025
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg) rs1594773549
NM_001754.5(RUNX1):c.1164del (p.Ser389fs) rs1601333051
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn) rs1601470652
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg) rs1601470582
NM_001754.5(RUNX1):c.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_001972.4(ELANE):c.597+5G>A rs879253882
NM_001987.5(ETV6):c.1043T>C (p.Leu348Ser) rs1591749381
NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp) rs1591749480
NM_001987.5(ETV6):c.1201T>C (p.Tyr401His) rs1591750551
NM_001987.5(ETV6):c.1251C>G (p.Phe417Leu) rs1591750603
NM_001987.5(ETV6):c.464-50_1009+50del rs1591735032
NM_001987.5(ETV6):c.791G>A (p.Arg264His) rs150621299
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) rs1064797086
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.653A>G (p.Asp218Gly) rs104894816
NM_002049.4(GATA1):c.680C>T (p.Ala227Val) rs1602220307
NM_002049.4(GATA1):c.816T>A (p.Asn272Lys) rs1602220724
NM_002473.6(MYH9):c.108_116del (p.Asp37_Ser39del) rs1603484057
NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn) rs1603483388
NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) rs1057520107
NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser) rs80338826
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
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.2507C>T (p.Pro836Leu) rs1603483077
NM_002473.6(MYH9):c.2668del (p.Gln890fs) rs1603483058
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) rs121913655
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) rs1603484047
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup) rs1603482974
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu) rs1603482935
NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala) rs1603482879
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) rs80338831
NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) rs867593888
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.4529T>G (p.Met1510Arg) rs1603482803
NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly) rs1603482754
NM_002473.6(MYH9):c.5032A>G (p.Met1678Val) rs901232499
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs) rs1603482653
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
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_002473.6(MYH9):c.99G>C (p.Trp33Cys) rs1603484059
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) rs587776806
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) rs2022057
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter) rs1571436535
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003998.4(NFKB1):c.1423del (p.Ala475fs) rs1578809101
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) rs1578771120
NM_003998.4(NFKB1):c.293T>A (p.Val98Asp) rs1578771197
NM_003998.4(NFKB1):c.830dup (p.Lys278fs) rs1578790573
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met) rs1578793298
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004991.4(MECOM):c.1678C>T (p.Gln560Ter) rs1577005203
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) rs766638870
NM_005476.7(GNE):c.1457T>C (p.Leu486Pro) rs774867424
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter) rs183873209
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
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>G rs1589393799
NM_014915.3(ANKRD26):c.-127A>T rs1589393799
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
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_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs) rs781366964
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs) rs2036418481
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del) rs1203437621
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro) rs1575602690
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu) rs1320075072
NM_015175.3(NBEAL2):c.2650-1G>A rs2036570687
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter) rs2036579205
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg) rs2036808727
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys) rs1001207491
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) rs2037042664
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) rs2037048154
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.607dup (p.Ile203fs) rs1575592157
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg) rs2037277207
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) rs1575623114
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu) rs1575623184
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) rs2037363765
NM_015175.3(NBEAL2):c.6656TCT[1] (p.Phe2220del) rs776748718
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) rs2037417315
NM_015175.3(NBEAL2):c.6920-1G>C rs2037428827
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro) rs377326649
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs) rs2037501401
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr) rs1405730457
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs) rs2037558268
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro) rs2037641398
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_018947.6(CYCS):c.124G>A (p.Gly42Ser) rs121918552
NM_018947.6(CYCS):c.295C>G (p.Leu99Val) rs1583394629
NM_018947.6(CYCS):c.308C>T (p.Thr103Ile) rs1583394618
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.739+7_739+43del rs1309684522
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255
NM_020458.4(TTC7A):c.1802+3G>C rs1572961263
NM_022436.3(ABCG5):c.775-3C>G rs764907076
NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs) rs1573338559
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_024747.6(HPS6):c.1006G>T (p.Asp336Tyr) rs772000976
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.6(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.6(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.6(HPS6):c.706_707del (p.Ser236fs) rs756471925
NM_030773.4(TUBB1):c.305C>T (p.Ala102Val) rs1014420517
NM_030773.4(TUBB1):c.773T>C (p.Val258Ala) rs1601239226
NM_030773.4(TUBB1):c.862G>A (p.Glu288Lys) rs916577364
NM_030773.4(TUBB1):c.945C>A (p.Cys315Ter) rs1601239459
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs) rs752074481
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs) rs1484184249
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) rs779921624
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) rs1599746194
Single allele

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