ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7476
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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_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser) rs1052692 0.08952
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591 0.08547
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_003200.5(TCF3):c.1475C>T (p.Ala492Val) rs2074888 0.02845
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001063.4(TF):c.1623-63del rs8177291 0.01085
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NC_000001.11:g.145919695T>C rs61746197 0.00503
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
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_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) rs2227606 0.00184
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_001001548.3(CD36):c.1150del (p.Ala384fs) rs551607784 0.00157
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_000265.7(NCF1):c.269G>A (p.Arg90His) rs201802880 0.00110
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
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_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
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_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu) rs537417919 0.00061
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_019616.4(F7):c.-30A>C rs539578931 0.00048
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_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val) rs531972155 0.00038
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_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter) rs778926161 0.00031
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) rs148636776 0.00025
NC_000011.10:g.5227159G>A rs33944208 0.00021
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_001085487.3(MYSM1):c.219-1G>A rs201886018 0.00016
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_022788.5(P2RY12):c.365G>A (p.Arg122His) rs778790805 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
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_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_000504.4(F10):c.1351A>C (p.Ile451Leu) rs369872236 0.00011
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.7393G>A (p.Val2465Met) rs375655409 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
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_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401 0.00009
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_020937.4(FANCM):c.4318-1G>A rs752228025 0.00008
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00006
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_001006658.3(CR2):c.1402+1G>A rs372838534 0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 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_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val) rs146717589 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
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_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000504.4(F10):c.1097G>A (p.Arg366His) rs143715673 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.7450G>A (p.Val2484Ile) rs139864572 0.00005
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys) rs142239530 0.00005
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NC_000016.10:g.67660342del rs753666055 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln) rs749454966 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000312.4(PROC):c.127G>A (p.Ala43Thr) rs767626189 0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000312.4(PROC):c.970G>A (p.Gly324Ser) rs571278160 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 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_000552.5(VWF):c.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg) rs137853119 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_020937.4(FANCM):c.5340+1G>T rs754297345 0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) rs199931785 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1327C>T (p.Arg443Cys) rs369435407 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000132.4(F8):c.248C>G (p.Pro83Arg) rs781974394 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) rs760759446 0.00003
NM_000204.5(CFI):c.1071T>G (p.Ile357Met) rs200881135 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000312.4(PROC):c.752C>T (p.Ala251Val) rs568121876 0.00003
NM_000313.4(PROS1):c.353C>T (p.Pro118Leu) rs761574063 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.993C>A (p.Cys331Ter) rs147924974 0.00003
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn) rs779399414 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala) rs2056451534 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491 0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) rs1029296641 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_012433.4(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) rs121918555 0.00003
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200 0.00003
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter) rs755841847 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
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.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_000631.5(NCF4):c.529-2A>T rs199890705 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) rs758110629 0.00002
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) rs104894182 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_001994.3(F13B):c.805+1G>A rs550859190 0.00002
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly) rs890521687 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 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.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter) rs780613456 0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) rs118204044 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_019616.4(F7):c.400G>A (p.Gly134Ser) rs563972504 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln) rs886923939 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter) rs373272174 0.00002
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364 0.00002
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg) rs371852125 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) rs752837159 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His) rs146049960 0.00002
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) rs201457594 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) rs202071781 0.00002
NM_173842.3(IL1RN):c.63A>G (p.Ser21=) rs763872895 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) rs148394770 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2663-1G>C rs1444037196 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3013_3019+4del rs765392662 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) rs1408701335 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000101.4(CYBA):c.369+1G>A rs905944088 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000128.4(F11):c.1060G>A (p.Gly354Arg) rs777714867 0.00001
NM_000128.4(F11):c.1136-7_1136-4del rs1439195599 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
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.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1608G>C (p.Lys536Asn) rs774280710 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 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.408C>A (p.Cys136Ter) rs143648758 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.616C>T (p.Pro206Ser) rs779123395 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.728C>T (p.Ser243Phe) rs1262002209 0.00001
NM_000128.4(F11):c.730C>T (p.Gln244Ter) rs747702749 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.865+1G>C rs1349655563 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 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.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His) rs1047644991 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000133.4(F9):c.149G>C (p.Gly50Ala) rs1229048705 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.459G>A (p.Val153=) rs144314232 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.1900+1G>A rs1598120768 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878 0.00001
NM_000135.4(FANCA):c.2222+1G>A rs775388912 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.4011-3_4011-2del rs911481295 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.522+1G>T rs1365019056 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.79+1G>A rs1483028018 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.-79+1G>A rs1228886763 0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
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_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584 0.00001
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu) rs933668811 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1940+2T>C rs972096803 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) rs1292929833 0.00001
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) rs2083734400 0.00001
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val) rs147318988 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.31T>C (p.Trp11Arg) rs1022839092 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_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.936+1G>A rs1949974650 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr) rs762591322 0.00001
NM_000312.4(PROC):c.1019C>T (p.Thr340Met) rs766261022 0.00001
NM_000312.4(PROC):c.1099G>A (p.Val367Met) rs140582220 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.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000312.4(PROC):c.125G>A (p.Arg42His) rs369504169 0.00001
NM_000312.4(PROC):c.433G>A (p.Gly145Ser) rs370813536 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_000312.4(PROC):c.759C>A (p.His253Gln) rs1458669732 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr) rs753603433 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 0.00001
NM_000313.4(PROS1):c.470A>G (p.Asp157Gly) rs751090951 0.00001
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp) rs536077692 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000342.4(SLC4A1):c.695-3C>A rs772264078 0.00001
NM_000375.3(UROS):c.7G>T (p.Val3Phe) rs773301339 0.00001
NM_000397.4(CYBB):c.1223G>C (p.Gly408Ala) rs151344474 0.00001
NM_000397.4(CYBB):c.1244C>G (p.Pro415Arg) rs137854585 0.00001
NM_000398.7(CYB5R3):c.547+1G>A rs1161477501 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu) rs754251915 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 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.1772A>C (p.Asp591Ala) rs778608263 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_000433.4(NCF2):c.1026G>A (p.Lys342=) rs1459123494 0.00001
NM_000433.4(NCF2):c.1178+1G>A rs1352107832 0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val) rs137854508 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.382A>T (p.Asn128Tyr) rs1657908048 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 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_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.-136C>T rs33994806 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly) rs1354593943 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1534-3C>A rs61754009 0.00001
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs) rs61748465 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2303G>A (p.Arg768Gln) rs772203447 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.338A>G (p.Tyr113Cys) rs374854636 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.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg) rs1943750562 0.00001
NM_000552.5(VWF):c.7056C>T (p.Gly2352=) rs746482504 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr) rs61751305 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu) rs186254196 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_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001006658.3(CR2):c.3088+1G>A rs200320927 0.00001
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 0.00001
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.2976+5G>A rs748710535 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787 0.00001
NM_001081.4(CUBN):c.4856-1del rs750520309 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp) rs746365230 0.00001
NM_001083116.3(PRF1):c.1267C>T (p.Gln423Ter) rs768953378 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn) rs1324261340 0.00001
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr) rs776657932 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.3721-1G>C rs1173483373 0.00001
NM_001114134.2(EPB42):c.1501del (p.Ser501fs) rs777764528 0.00001
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu) rs772330879 0.00001
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) rs1904552378 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) rs587777101 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) rs1557229572 0.00001
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) rs782317415 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
NM_001364905.1(LRBA):c.5645+2T>A rs1181595292 0.00001
NM_001364905.1(LRBA):c.5646-2A>T rs1297757024 0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_001376013.1(EPB41):c.1944+1G>C rs1477424620 0.00001
NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu) rs372078034 0.00001
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) rs1171996547 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) rs760855321 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) rs387907272 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_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638 0.00001
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val) rs1354534120 0.00001
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714 0.00001
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val) rs1159294530 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.1637-2del rs1224034435 0.00001
NM_004629.2(FANCG):c.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.1761-2A>C rs765150956 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) rs759704849 0.00001
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) rs1212577459 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 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.1544G>T (p.Trp515Leu) rs121913615 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.1727G>A (p.Gly576Glu) rs121908625 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_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) rs1245618829 0.00001
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) rs778820674 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427 0.00001
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly) rs775623976 0.00001
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln) rs754688962 0.00001
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp) rs755415626 0.00001
NM_012452.3(TNFRSF13B):c.61+2T>A rs760885614 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_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) rs1553162901 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_018062.4(FANCL):c.216+1G>T rs1205006300 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018062.4(FANCL):c.692-2A>G rs1558737575 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) rs190485816 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 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_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.544-2A>G rs772388034 0.00001
NM_020937.4(FANCM):c.1397-1G>T rs1887394029 0.00001
NM_021870.3(FGG):c.677G>T (p.Gly226Val) rs1310452604 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 0.00001
NM_021922.3(FANCE):c.1509+1G>A rs745877509 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.248+1del rs1767163932 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.297del (p.Met99fs) rs754850404 0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_022081.6(HPS4):c.706+1G>A rs374343385 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter) rs377169467 0.00001
NM_024747.6(HPS6):c.466_475dup (p.Phe159fs) rs1462863412 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_030773.4(TUBB1):c.726C>G (p.Phe242Leu) rs890185415 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1794+1G>A rs766516963 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val) rs1483709056 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter) rs1488175163 0.00001
NM_032383.5(HPS3):c.2292+1G>A rs755724489 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.4739+1G>T rs759186986 0.00001
NM_032444.4(SLX4):c.4739+2T>C rs774356384 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn) rs1060500092 0.00001
NM_032638.5(GATA2):c.937C>T (p.His313Tyr) rs2068661887 0.00001
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.572-2A>G rs145310733 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 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
NM_139279.6(MCFD2):c.149+5G>A rs387906286 0.00001
NM_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4746-1G>C rs768342041 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) rs1309399887 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_203447.4(DOCK8):c.1680-2A>G rs749633690 0.00001
46;XX;t(4;14)(p15.2;q13)dn
G6PD A-
G6PD NARA rs587776730
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
GRCh37/hg19 16p11.2(chr16:29624260-29874118)x3
GRCh37/hg19 16p12.2(chr16:23619233-23625407)x1
GRCh37/hg19 1q21.1(chr1:145395604-145704146)
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
GRCh37/hg19 4q24(chr4:102851823-104641864)
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
GRCh37/hg19 9p13.3(chr9:36227245-36227455)
GRCh38/hg38 16q24.3(chr16:89773385-89775741)
NC_000001.10:g.(?_154246017)_(154247306_?)del
NC_000001.10:g.(?_235850229)_(235860592_?)del
NC_000001.10:g.(?_235850329)_(235858090_?)del
NC_000001.10:g.(?_235950490)_(235964407_?)dup
NC_000001.11:g.(?_154274930)_(154275721_?)del
NC_000001.11:g.(?_183577579)_(183577727_?)dup
NC_000001.11:g.145601946_148597425del
NC_000001.11:g.173911749_173917428del
NC_000001.11:g.173916290_173918404del
NC_000001.11:g.173917430G>C
NC_000002.11:g.(?_128176278)_(128177573_?)del
NC_000002.11:g.(?_58386900)_(58393029_?)del
NC_000002.12:g.(?_58159755)_(58165884_?)del
NC_000002.12:g.5853982_6200592del
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000003.11:g.(?_10084233)_(10085286_?)del
NC_000003.11:g.(?_10091048)_(10140634_?)del
NC_000003.11:g.(?_10094051)_(10109021_?)dup
NC_000003.11:g.(?_10132039)_(10132856_?)del
NC_000003.11:g.(?_148888289)_(148904456_?)del
NC_000003.11:g.(?_197680864)_(197682644_?)del
NC_000003.11:g.(?_3179743)_(3189406_?)del
NC_000003.11:g.(?_93646084)_(93647651_?)dup
NC_000003.12:g.93879713_93906171del
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.11:g.(?_151223757)_(151271331_?)dup
NC_000004.11:g.(?_151412050)_(151793927_?)dup
NC_000004.11:g.(?_151509219)_(151514947_?)del
NC_000004.11:g.(?_151604683)_(151604889_?)dup
NC_000004.11:g.(?_151738256)_(151738429_?)dup
NC_000004.12:g.104314621_104314622insG rs1578264146
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7885880)_(7887275_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000006.11:g.(?_35423579)_(35424285_?)del
NC_000006.11:g.(?_35423579)_35424285del
NC_000006.12:g.(?_34417506)_(34421817_?)del
NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup
NC_000007.14:g.80649748_80727446del
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000008.10:g.(?_100050631)_(100128122_?)dup
NC_000008.10:g.(?_100050631)_(100287502_?)dup
NC_000008.10:g.(?_100050713)_(100057034_?)del
NC_000008.10:g.(?_100108520)_(100205305_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)dup
NC_000008.10:g.(?_100123306)_(100133735_?)dup
NC_000008.10:g.(?_100133385)_(100160258_?)dup
NC_000008.10:g.(?_100157931)_(100160219_?)del
NC_000008.10:g.(?_100162579)_(100168929_?)del
NC_000008.10:g.(?_100205094)_(100205295_?)dup
NC_000008.10:g.(?_100205094)_(100287492_?)dup
NC_000008.10:g.(?_100286406)_(100287502_?)del
NC_000008.10:g.(?_100396426)_(100479872_?)dup
NC_000008.10:g.(?_100403765)_(100403952_?)dup
NC_000008.10:g.(?_100443745)_(100533258_?)dup
NC_000008.10:g.(?_100443755)_(100443902_?)dup
NC_000008.10:g.(?_100479254)_(100479653_?)del
NC_000008.10:g.(?_100515082)_(100516199_?)del
NC_000008.10:g.(?_100515082)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)dup
NC_000008.10:g.(?_100654029)_(100654736_?)dup
NC_000008.10:g.(?_100673562)_(100847986_?)dup
NC_000008.10:g.(?_100711743)_(100712170_?)del
NC_000008.10:g.(?_100778144)_(100779154_?)del
NC_000008.10:g.(?_100781239)_(100789156_?)del
NC_000008.10:g.(?_100790890)_(100836226_?)dup
NC_000008.10:g.(?_100821583)_(100821778_?)del
NC_000008.10:g.(?_100821603)_(100821758_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)dup
NC_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209582)_(99275264_?)del
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000009.11:g.(?_271607)_(304724_?)dup
NC_000009.11:g.(?_271607)_(312186_?)dup
NC_000009.11:g.(?_271607)_(328191_?)dup
NC_000009.11:g.(?_271607)_(336738_?)dup
NC_000009.11:g.(?_271607)_(382705_?)dup
NC_000009.11:g.(?_271607)_(399279_?)dup
NC_000009.11:g.(?_271607)_(418227_?)dup
NC_000009.11:g.(?_271627)_(382685_?)dup
NC_000009.11:g.(?_271627)_(399259_?)dup
NC_000009.11:g.(?_325651)_(382705_?)dup
NC_000009.11:g.(?_332378)_(340341_?)dup
NC_000009.11:g.(?_334205)_(336738_?)del
NC_000009.11:g.(?_36229008)_(36236991_?)dup
NC_000009.11:g.(?_36229008)_(36249404_?)dup
NC_000009.11:g.(?_36246018)_(36249404_?)dup
NC_000009.11:g.(?_367998)_(418227_?)dup
NC_000009.11:g.(?_371408)_(428516_?)dup
NC_000009.11:g.(?_404898)_(407089_?)dup
NC_000009.11:g.(?_97876901)_(97934439_?)dup
NC_000009.12:g.(333421_334903)del
NC_000009.12:g.(?_286441)_(289601_?)del
NC_000009.12:g.(?_304561)_(399279_?)dup
NC_000009.12:g.(?_334205)_(340341_?)dup
NC_000009.12:g.(?_36227238)_(36227468_?)dup
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del
NC_000011.9:g.(?_4045083)_(4045237_?)dup
NC_000011.9:g.(?_46746328)_(46748347_?)del
NC_000011.9:g.(?_59603261)_(59604844_?)dup
NC_000012.11:g.(6105389_6120782)_(6233842_?)del
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
NC_000014.8:g.(?_45618020)_(45669211_?)del
NC_000014.8:g.(?_45623113)_(45669211_?)del
NC_000014.8:g.(?_45628293)_(45628489_?)dup
NC_000014.8:g.(?_45667837)_(45669211_?)del
NC_000014.9:g.(?_45153910)_(45200018_?)del
NC_000014.9:g.(?_45159086)_(45159290_?)dup
NC_000014.9:g.105855132dup rs2092930640
NC_000014.9:g.105856013G>T rs2142904095
NC_000014.9:g.95696766_96390792dup
NC_000015.10:g.(?_90794157)_(90798347_?)del
NC_000015.10:g.(?_90803511)_(90804369_?)del
NC_000015.10:g.(?_90809127)_(90815289_?)del
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NC_000015.9:g.(?_89804796)_(89805129_?)dup
NC_000015.9:g.(?_89804886)_(89806896_?)del
NC_000015.9:g.(?_89843021)_(89860052_?)del
NC_000015.9:g.(?_91291282)_(91292741_?)del
NC_000015.9:g.(?_91326042)_(91328321_?)dup
NC_000015.9:g.(?_91326042)_(91334084_?)dup
NC_000015.9:g.(?_91326042)_(91358509_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)dup
NC_000015.9:g.(?_91341448)_(91344889_?)del
NC_000015.9:g.(?_91346731)_(91358509_?)del
NC_000015.9:g.(?_91346741)_(91358509_?)del
NC_000015.9:g.(?_91346741)_(91358519_?)del
NC_000015.9:g.(?_91352357)_(91358509_?)del
NC_000016.10:g.(?_89758567)_(89762032_?)dup
NC_000016.10:g.(?_89764807)_(89779967_?)del
NC_000016.10:g.(?_89764884)_(89779963_?)del
NC_000016.10:g.(?_89791393)_(89799648_?)del
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NC_000016.9:g.(?_3634750)_(3634892_?)dup
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NC_000016.9:g.(?_88709946)_(88713408_?)del
NC_000016.9:g.(?_89802587)_(89816264_?)del
NC_000016.9:g.(?_89804999)_(89871810_?)del
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89816056)_(89816320_?)dup
NC_000016.9:g.(?_89816118)_(89818650_?)del
NC_000016.9:g.(?_89818526)_(89833665_?)dup
NC_000016.9:g.(?_89818536)_(89818822_?)dup
NC_000016.9:g.(?_89824976)_(89831435_?)del
NC_000016.9:g.(?_89828347)_(89846375_?)dup
NC_000016.9:g.(?_89831215)_(89874785_?)del
NC_000016.9:g.(?_89839659)_(89846385_?)dup
NC_000016.9:g.(?_89839659)_(89849530_?)dup
NC_000016.9:g.(?_89842140)_(89851382_?)dup
NC_000016.9:g.(?_89845189)_(89851392_?)dup
NC_000016.9:g.(?_89845189)_(89874795_?)dup
NC_000016.9:g.(?_89857801)_(89881031_?)del
NC_000016.9:g.(?_89862294)_(89862446_?)dup
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000016.9:g.(?_89869657)_(89877489_?)dup
NC_000017.10:g.(?_16842841)_(16855917_?)del
NC_000017.10:g.(?_56774149)_(56777997_?)del
NC_000017.10:g.(?_56777232)_(56780574_?)del
NC_000017.10:g.(?_56780547)_(56787361_?)dup
NC_000017.10:g.(?_56798097)_(56801482_?)dup
NC_000017.10:g.(?_56798101)_(56798179_?)dup
NC_000017.10:g.(?_56801381)_(56811583_?)del
NC_000017.10:g.(?_56811469)_(56811583_?)del
NC_000017.10:g.(?_59770781)_(59770883_?)dup
NC_000017.10:g.(?_59770785)_(59770879_?)dup
NC_000017.10:g.(?_59820364)_(59820505_?)dup
NC_000017.10:g.(?_59853742)_(59926637_?)dup
NC_000017.10:g.(?_59858191)_(59858864_?)dup
NC_000017.10:g.(?_59861621)_(59937278_?)dup
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59870938)_(59886138_?)dup
NC_000017.10:g.(?_59870948)_(59886128_?)dup
NC_000017.10:g.(?_59878604)_(59878845_?)del
NC_000017.10:g.(?_59878608)_(59878841_?)del
NC_000017.10:g.(?_59878633)_(59883057_?)del
NC_000017.10:g.(?_59878633)_59883038del
NC_000017.10:g.(?_59924456)_(59926623_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.11:g.(?_58703186)_(58703339_?)dup
NC_000017.11:g.(?_58709849)_(58710000_?)del
NC_000017.11:g.(?_58709853)_(58709996_?)del
NC_000017.11:g.(?_58720736)_(58720822_?)dup
NC_000017.11:g.(?_58734108)_(58734232_?)del
NC_000017.11:g.(?_58734112)_(58734228_?)del
NC_000017.11:g.(?_61847091)_(61847230_?)del
NC_000017.11:g.(?_61861441)_(61861545_?)del
NC_000018.10:g.(?_2921533)_(2938037_?)del
NC_000018.9:g.(?_2921511)_(2938055_?)del
NC_000021.8:g.(?_36206697)_(36206908_?)del
NC_000021.8:g.35304341_36865875del
NC_000021.8:g.35304355_36865958del
NC_000021.8:g.36318516_37184936del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NC_000021.9:g.(?_35048832)_(35049298_?)del
NC_000021.9:g.34799252_36071979del
NC_000022.11:g.36864921_36864935del rs1200078508
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_000023.10:g.(?_37641330)_(37641446_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NC_000023.11:g.(?_14857852)_(14859344_?)del
NC_000023.11:g.(?_37810771)_(37810937_?)del
NC_000023.11:g.154966457A>C
NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln) rs779287554
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) rs1935671225
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) rs2146715075
NM_000032.5(ALAS2):c.304+2T>A
NM_000032.5(ALAS2):c.680G>A (p.Arg227His)
NM_000037.4(ANK1):c.1124del (p.Leu375fs)
NM_000037.4(ANK1):c.1135del (p.Cys379fs) rs2150641017
NM_000037.4(ANK1):c.1282dup (p.Ala428fs)
NM_000037.4(ANK1):c.1376del (p.Asn459fs)
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1452del (p.Asn484fs) rs2150635459
NM_000037.4(ANK1):c.1487_1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)
NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)
NM_000037.4(ANK1):c.1675del (p.Asp559fs)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1709del (p.Leu570fs)
NM_000037.4(ANK1):c.1779_1800+1dup
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs) rs2150631832
NM_000037.4(ANK1):c.1784dup (p.His596fs)
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.181del (p.Val61fs)
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) rs749423708
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)
NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)
NM_000037.4(ANK1):c.1A>G (p.Met1Val) rs1554627073
NM_000037.4(ANK1):c.2004del (p.Leu669fs) rs2150616506
NM_000037.4(ANK1):c.2023dup (p.Val675fs)
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2104dup (p.Tyr702fs) rs2150612966
NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)
NM_000037.4(ANK1):c.2283del (p.Asn761fs)
NM_000037.4(ANK1):c.2296-1G>A
NM_000037.4(ANK1):c.2296-2A>C
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)
NM_000037.4(ANK1):c.2389-2A>G
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.2485del (p.Ala829fs)
NM_000037.4(ANK1):c.2558+2T>C rs2150602525
NM_000037.4(ANK1):c.2581dup (p.Arg861fs)
NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter)
NM_000037.4(ANK1):c.2681del (p.Pro894fs)
NM_000037.4(ANK1):c.2764del (p.Arg922fs)
NM_000037.4(ANK1):c.2768del (p.Gly923fs) rs2150597126
NM_000037.4(ANK1):c.2823del (p.Thr942fs)
NM_000037.4(ANK1):c.290_291delinsCAAC (p.Leu97fs)
NM_000037.4(ANK1):c.2960+1G>A rs2150596703
NM_000037.4(ANK1):c.2961-2A>G rs2150594692
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)
NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)
NM_000037.4(ANK1):c.3059_3066del (p.His1020fs) rs2150594434
NM_000037.4(ANK1):c.3072T>A (p.Tyr1024Ter)
NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter)
NM_000037.4(ANK1):c.3123del (p.Ser1042fs)
NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)
NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)
NM_000037.4(ANK1):c.3151del (p.Val1051fs)
NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)
NM_000037.4(ANK1):c.3269del (p.Leu1090fs) rs2150593284
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)
NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)
NM_000037.4(ANK1):c.3533-2A>G
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)
NM_000037.4(ANK1):c.3553T>A (p.Trp1185Arg)
NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) rs1586144223
NM_000037.4(ANK1):c.3630-1G>A
NM_000037.4(ANK1):c.3775del (p.Tyr1259fs) rs2150589601
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)
NM_000037.4(ANK1):c.3841del (p.Arg1281fs)
NM_000037.4(ANK1):c.3859-2A>G
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
NM_000037.4(ANK1):c.389_390delinsCAAC (p.Leu130fs)
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter) rs2150586181
NM_000037.4(ANK1):c.3954del (p.Arg1319fs)
NM_000037.4(ANK1):c.3974_3981dup (p.Lys1328delinsCysLeuTer)
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.4051del (p.Asp1351fs) rs1586114714
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)
NM_000037.4(ANK1):c.4095dup (p.Cys1366fs)
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4184-2A>G
NM_000037.4(ANK1):c.4259-1G>T
NM_000037.4(ANK1):c.4267del (p.Arg1423fs)
NM_000037.4(ANK1):c.427-2A>G
NM_000037.4(ANK1):c.4390+1G>A rs2150580336
NM_000037.4(ANK1):c.4391-1G>C
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter) rs1187228917
NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)
NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)
NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)
NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)
NM_000037.4(ANK1):c.4813del (p.Ala1605fs) rs2150563125
NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)
NM_000037.4(ANK1):c.4835del (p.Gly1612fs) rs2150563078
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter) rs774067157
NM_000037.4(ANK1):c.4886del (p.Asp1629fs)
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
NM_000037.4(ANK1):c.5026del (p.His1676fs)
NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)
NM_000037.4(ANK1):c.5096+1G>A
NM_000037.4(ANK1):c.5096+2T>G
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter) rs2150556792
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.5164del (p.Gln1722fs)
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)
NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)
NM_000037.4(ANK1):c.557del (p.Thr186fs)
NM_000037.4(ANK1):c.612+1G>C
NM_000037.4(ANK1):c.613-1G>A
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
NM_000037.4(ANK1):c.712-2A>T rs2150653010
NM_000037.4(ANK1):c.725del (p.Pro242fs) rs2150652933
NM_000037.4(ANK1):c.810+1G>A
NM_000037.4(ANK1):c.86del (p.Leu29fs)
NM_000037.4(ANK1):c.895C>T (p.Gln299Ter)
NM_000037.4(ANK1):c.910-2A>G
NM_000037.4(ANK1):c.970del (p.Leu324fs)
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys) rs1591693095
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1087+1G>T
NM_000057.4(BLM):c.1087+2T>C
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1114del (p.Ile373fs) rs1555419704
NM_000057.4(BLM):c.1151del (p.Asp384fs) rs1555419724
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1210del (p.Arg404fs) rs1555419742
NM_000057.4(BLM):c.1220+1G>A rs1555419748
NM_000057.4(BLM):c.1220+1G>T
NM_000057.4(BLM):c.1220+2T>C
NM_000057.4(BLM):c.1220+2T>G
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) rs887921909
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1545del (p.Asn515fs)
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) rs1057517266
NM_000057.4(BLM):c.1740del (p.Thr581fs) rs1057517432
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1795del (p.Arg599fs) rs1057517431
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1882+1G>C rs757841012
NM_000057.4(BLM):c.1882+2T>C
NM_000057.4(BLM):c.1883-1G>A rs772230310
NM_000057.4(BLM):c.1883-2A>G rs1555420142
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter) rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
NM_000057.4(BLM):c.1A>C (p.Met1Leu) rs1215497457
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2307+1G>A
NM_000057.4(BLM):c.2307+2T>G rs2151164052
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs) rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2407-1G>A rs1555420871
NM_000057.4(BLM):c.2407-2A>G
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000057.4(BLM):c.2516del (p.Lys839fs)
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) rs767086502
NM_000057.4(BLM):c.2548_2555+12del
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2555+1G>T rs1555420917
NM_000057.4(BLM):c.2556-1G>T rs1896650174
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs) rs1567052178
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2603del (p.Pro868fs)
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2662+2T>G rs1567052324
NM_000057.4(BLM):c.2663-1G>A
NM_000057.4(BLM):c.2663-2A>G rs1567053170
NM_000057.4(BLM):c.2677dup (p.Ile893fs)
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs) rs1057516452
NM_000057.4(BLM):c.2756del (p.His919fs)
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2807del (p.Asn936fs) rs1245531016
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) rs1057516700
NM_000057.4(BLM):c.2823_2823+3del
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2824-2A>C rs745538883
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
NM_000057.4(BLM):c.2918dup (p.Tyr973Ter)
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs) rs797045115
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.303_304del (p.Gly102fs)
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3210+1G>A
NM_000057.4(BLM):c.3211-2A>G
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3265del (p.Gln1089fs)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3343del (p.Val1115fs)
NM_000057.4(BLM):c.3358+1G>A
NM_000057.4(BLM):c.3358+1G>T
NM_000057.4(BLM):c.3359-1G>A
NM_000057.4(BLM):c.3359-2A>G
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) rs1057516774
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
NM_000057.4(BLM):c.3427G>T (p.Glu1143Ter)
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs) rs2151194257
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3504dup (p.Ala1169fs)
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3554_3559-116del
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3751+1G>A rs1897239335
NM_000057.4(BLM):c.3751+2T>C rs1897239414
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3845dup (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) rs1057516728
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) rs2151198389
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
NM_000057.4(BLM):c.3874+1G>A
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-1G>A rs2151199690
NM_000057.4(BLM):c.3875-2A>T rs150421256
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.3917del (p.Gly1306fs) rs764086459
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) rs1555425074
NM_000057.4(BLM):c.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
NM_000057.4(BLM):c.443dup (p.Leu148fs) rs1057516297
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.516del (p.Gln174fs)
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
NM_000057.4(BLM):c.550C>T (p.Gln184Ter)
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.662_665del (p.Thr221fs) rs1057517229
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)
NM_000057.4(BLM):c.746del (p.Asn249fs)
NM_000057.4(BLM):c.74T>G (p.Leu25Ter) rs1895534883
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.799+1G>A
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.959_959+16del
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.960-2A>C rs1286600850
NM_000057.4(BLM):c.960-2A>G
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000057.4(BLM):c.98_98+1del
NM_000057.4(BLM):c.99-1G>C rs897262346
NM_000057.4(BLM):c.99-1G>T
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000057.4:c.959+2_959+3insAlu
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-40+2T>C rs1593879845
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) rs2137509604
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe) rs80359094
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000061.3(BTK):c.119_120dup (p.Glu41fs)
NM_000061.3(BTK):c.121G>A (p.Glu41Lys) rs1057520045
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) rs2147427580
NM_000061.3(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1566_1566+9del
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)
NM_000061.3(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) rs1926380106
NM_000061.3(BTK):c.1716dup (p.Lys573fs) rs2147424879
NM_000061.3(BTK):c.1771dup (p.Tyr591fs)
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.1925C>T (p.Pro642Leu)
NM_000061.3(BTK):c.233del (p.Gln78fs) rs2147447513
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.36G>T (p.Lys12Asn) rs782519139
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
NM_000061.3(BTK):c.451C>T (p.Gln151Ter)
NM_000061.3(BTK):c.463T>G (p.Cys155Gly)
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.588+2T>A rs1555978777
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.842G>A (p.Trp281Ter) rs2147431031
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.894+1G>A rs1064793859
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.904G>A (p.Gly302Arg)
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000064.4(C3):c.75-1G>A
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) rs2076113325
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) rs2148552406
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.3(CD40LG):c.439A>C (p.Thr147Pro)
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) rs2076127133
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.3(CD40LG):c.634del (p.His212fs)
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser) rs11547328
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu) rs104894340
NM_000077.5(CDKN2A):c.151-6_151delinsC
NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)
NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn)
NM_000081.4(LYST):c.10100del (p.Lys3367fs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10156del (p.Met3386fs)
NM_000081.4(LYST):c.1019del (p.Ser340fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
NM_000081.4(LYST):c.1050del (p.Asn352fs)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.124del (p.Gly43fs)
NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)
NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2275del (p.Ser759fs)
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3713-2A>C
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4006+2T>C
NM_000081.4(LYST):c.4116+1G>A
NM_000081.4(LYST):c.4117-2A>G
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) rs1468055437
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4863-4G>T
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
NM_000081.4(LYST):c.5023+1G>A
NM_000081.4(LYST):c.5214+1G>C
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
NM_000081.4(LYST):c.5923-1G>A
NM_000081.4(LYST):c.5923-2A>G
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
NM_000081.4(LYST):c.6254-1G>C
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro)
NM_000081.4(LYST):c.7291del (p.Leu2431fs)
NM_000081.4(LYST):c.7460+2T>A
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000081.4(LYST):c.7461-1G>A
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7781-1G>T
NM_000081.4(LYST):c.8358+1G>C
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8358+2T>G
NM_000081.4(LYST):c.8378del (p.Leu2793fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)
NM_000081.4(LYST):c.8613-2A>T
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
NM_000081.4(LYST):c.8801+1G>A
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.9044+1G>A
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
NM_000081.4(LYST):c.9626del (p.Lys3209fs)
NM_000081.4(LYST):c.9627+1G>A
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.98_105del (p.Glu33fs)
NM_000081.4(LYST):c.9925+1G>T
NM_000081.4(LYST):c.9925+2T>C
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) rs1064797073
NM_000096.4(CP):c.2078-75_2241del
NM_000096.4(CP):c.2285+2T>C
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.2879-1G>T rs386134141
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000101.4(CYBA):c.128+2T>C rs1191361764
NM_000101.4(CYBA):c.129-1G>T rs1445023836
NM_000101.4(CYBA):c.166del (p.Arg56fs) rs1352931329
NM_000101.4(CYBA):c.203+102_404del
NM_000101.4(CYBA):c.268C>G (p.Arg90Gly) rs179363892
NM_000101.4(CYBA):c.287+2_287+3del rs2142875237
NM_000101.4(CYBA):c.288-1G>A
NM_000101.4(CYBA):c.288-1G>T
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000101.4(CYBA):c.295_301del (p.Val99fs)
NM_000101.4(CYBA):c.345del (p.Ile116fs) rs2142873834
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.385G>T (p.Glu129Ter)
NM_000101.4(CYBA):c.58+2T>C
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000128.4(F11):c.1028+1G>A rs1316806485
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1120T>C (p.Cys374Arg) rs1580090765
NM_000128.4(F11):c.1232_1235del (p.Thr411fs) rs1057517446
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1305-1G>A rs1057517204
NM_000128.4(F11):c.1305-2A>G
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)
NM_000128.4(F11):c.1351C>T (p.Gln451Ter)
NM_000128.4(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.4(F11):c.1365del (p.Glu456fs)
NM_000128.4(F11):c.1380_1383del (p.Phe460fs) rs1554083736
NM_000128.4(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.4(F11):c.1408del (p.Asp470fs)
NM_000128.4(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.4(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.4(F11):c.1480+2T>C rs1554083758
NM_000128.4(F11):c.1481-1G>C rs1057516506
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.4(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.4(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.4(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.4(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.4(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.4(F11):c.174_175dup (p.Phe59fs)
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.4(F11):c.1831G>A (p.Val611Met)
NM_000128.4(F11):c.1837G>A (p.Glu613Lys)
NM_000128.4(F11):c.1840T>G (p.Tyr614Asp)
NM_000128.4(F11):c.218+1G>A rs1057516738
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.4(F11):c.228T>A (p.Cys76Ter)
NM_000128.4(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.4(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.4(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.4(F11):c.325+1G>T
NM_000128.4(F11):c.343del (p.Tyr115fs) rs1580075457
NM_000128.4(F11):c.38_39del (p.Phe13fs)
NM_000128.4(F11):c.415A>T (p.Arg139Ter)
NM_000128.4(F11):c.434A>C (p.His145Pro)
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.485+1G>T
NM_000128.4(F11):c.486-2A>G rs1057516695
NM_000128.4(F11):c.596-7_600del rs1057517116
NM_000128.4(F11):c.60T>A (p.Cys20Ter)
NM_000128.4(F11):c.614del (p.Phe205fs)
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.4(F11):c.668del (p.Ala223fs)
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
NM_000128.4(F11):c.729_735del (p.Gln244fs)
NM_000128.4(F11):c.738del (p.Trp246fs)
NM_000128.4(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.4(F11):c.752_755+25delinsT
NM_000128.4(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.90del (p.Phe30fs)
NM_000128.4(F11):c.961_962del (p.Cys321fs) rs786204449
NM_000128.4(F11):c.963C>A (p.Cys321Ter)
NM_000128.4(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.4(F11):c.973G>T (p.Val325Phe) rs764711007
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000128.4(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.4(F11):c.990dup (p.Thr331fs) rs1554082938
NM_000129.4(F13A1):c.1112+1G>A
NM_000129.4(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter) rs757172838
NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)
NM_000129.4(F13A1):c.2071C>T (p.Gln691Ter)
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)
NM_000129.4(F13A1):c.669del (p.Arg224fs)
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)
NM_000129.4(F13A1):c.888C>G (p.Ser296Arg) rs778181928
NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)
NM_000130.5(F5):c.1297-2A>G rs762646464
NM_000130.5(F5):c.1396+2T>C
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.5(F5):c.1619C>T (p.Ala540Val)
NM_000130.5(F5):c.1671G>C (p.Trp557Cys) rs1571578995
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs) rs1571574574
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer) rs2101818861
NM_000130.5(F5):c.373+1G>A
NM_000130.5(F5):c.374-2del
NM_000130.5(F5):c.413dup (p.Met138fs)
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000130.5(F5):c.4962_4971+3del
NM_000130.5(F5):c.5209-2A>G
NM_000130.5(F5):c.5420-63_5554delinsG
NM_000130.5(F5):c.5789-1G>A
NM_000130.5(F5):c.5789-1G>T
NM_000130.5(F5):c.6658G>T (p.Gly2220Cys)
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
NM_000130.5(F5):c.953-1G>A
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000132.4(F8):c.1034T>C (p.Val345Ala) rs1189348665
NM_000132.4(F8):c.1073dup (p.Asn358fs) rs1603435281
NM_000132.4(F8):c.1120del (p.Met374fs)
NM_000132.4(F8):c.1169T>C (p.Ile390Thr) rs2124106062
NM_000132.4(F8):c.1180del (p.Ala394fs)
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1244C>A (p.Ala415Asp)
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1420G>A (p.Gly474Arg)
NM_000132.4(F8):c.1430G>T (p.Gly477Val) rs2124105158
NM_000132.4(F8):c.143G>A (p.Arg48Lys) rs1261929809
NM_000132.4(F8):c.1443+5G>A rs1195283929
NM_000132.4(F8):c.1444-3C>G rs1603435027
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1481T>G (p.Ile494Ser) rs137852413
NM_000132.4(F8):c.1504G>T (p.Val502Phe) rs2073393106
NM_000132.4(F8):c.1538-18G>A rs1482306571
NM_000132.4(F8):c.1571C>T (p.Pro524Leu)
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.1655A>G (p.Tyr552Cys)
NM_000132.4(F8):c.1752+5G>T rs2124094299
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1825A>C (p.Asn609His) rs2073350730
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1898T>G (p.Met633Arg) rs1603434697
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1930T>G (p.Leu644Val) rs2124082414
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
NM_000132.4(F8):c.2099C>T (p.Ser700Leu) rs1359096117
NM_000132.4(F8):c.2101A>G (p.Met701Val) rs2073313804
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.4(F8):c.2627T>A (p.Leu876Ter) rs2073195449
NM_000132.4(F8):c.262A>G (p.Met88Val) rs782731044
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
NM_000132.4(F8):c.2974_2977del (p.Phe992fs) rs2124052011
NM_000132.4(F8):c.308T>C (p.Val103Ala) rs2073621465
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.4(F8):c.3247_3248del (p.Met1083fs) rs1603433803
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.4(F8):c.3780del (p.Asp1260fs) rs2124050215
NM_000132.4(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter) rs2073182544
NM_000132.4(F8):c.403G>T (p.Asp135Tyr) rs2073597882
NM_000132.4(F8):c.4313dup (p.Ser1439fs) rs1603433756
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.460A>C (p.Thr154Pro) rs1603436436
NM_000132.4(F8):c.460A>G (p.Thr154Ala) rs1603436436
NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.4(F8):c.476T>A (p.Val159Asp)
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr) rs2073173387
NM_000132.4(F8):c.5096A>G (p.Tyr1699Cys)
NM_000132.4(F8):c.509C>T (p.Pro170Leu) rs2124140933
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5219+2T>C rs1603433713
NM_000132.4(F8):c.5219G>T (p.Arg1740Met) rs1444273117
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys) rs2124000594
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5441A>T (p.Asp1814Val) rs2073030462
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg) rs2073029867
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5586+2T>C
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.558C>A (p.Asp186Glu) rs1603436426
NM_000132.4(F8):c.55A>C (p.Ser19Arg) rs2124174458
NM_000132.4(F8):c.5666A>G (p.Gln1889Arg) rs2123997081
NM_000132.4(F8):c.5724del (p.Trp1908fs) rs2073026512
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5816-2A>G rs2123996454
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe) rs1411617809
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5896A>C (p.Met1966Leu) rs1603432970
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5939_5940del (p.His1980fs)
NM_000132.4(F8):c.5994del (p.Pro1999fs)
NM_000132.4(F8):c.5998+1G>T
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) rs1603432913
NM_000132.4(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg) rs2073013277
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) rs1444225681
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.4(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly) rs2123993603
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) rs2123993600
NM_000132.4(F8):c.6273G>A (p.Lys2091=) rs2148584915
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6274-2A>G
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
NM_000132.4(F8):c.640T>G (p.Phe214Val) rs2073563995
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser) rs1603431561
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.650T>C (p.Leu217Pro) rs2124134359
NM_000132.4(F8):c.650T>G (p.Leu217Arg) rs2124134359
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln) rs2148568062
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg) rs1603431512
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu) rs2148567338
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly) rs2072694107
NM_000132.4(F8):c.665A>C (p.Asp222Ala) rs137852396
NM_000132.4(F8):c.6678del (p.Ala2227fs) rs1273763950
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp) rs2072692745
NM_000132.4(F8):c.671-50_787+50del rs1603436123
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu) rs1174359623
NM_000132.4(F8):c.6776T>A (p.Val2259Asp) rs1603431479
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro) rs2072682503
NM_000132.4(F8):c.683A>C (p.His228Pro)
NM_000132.4(F8):c.6900+1G>C
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter) rs2148555597
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro) rs137852474
NM_000132.4(F8):c.6975del (p.Arg2326fs) rs2148555575
NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) rs2072484280
NM_000132.4(F8):c.745A>T (p.Lys249Ter)
NM_000132.4(F8):c.74A>G (p.Tyr25Cys) rs2124174443
NM_000132.4(F8):c.755C>T (p.Thr252Ile) rs1464962436
NM_000132.4(F8):c.783del (p.Pro262fs)
NM_000132.4(F8):c.784C>G (p.Pro262Ala)
NM_000132.4(F8):c.787+5G>C rs1378662017
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.836T>G (p.Met279Arg)
NM_000132.4(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.4(F8):c.853G>A (p.Val285Met) rs2073444412
NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)
NM_000132.4(F8):c.901C>T (p.Arg301Cys) rs1401805753
NM_000132.4(F8):c.967G>A (p.Gly323Arg) rs2124109849
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4(F8):c.992T>C (p.Ile331Thr) rs2073442480
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.-17A>G rs1927322926
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
NM_000133.4(F9):c.1005C>G (p.Cys335Trp) rs1928110579
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) 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.1079T>C (p.Phe360Ser)
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
NM_000133.4(F9):c.1105C>T (p.Leu369Phe) rs2148367939
NM_000133.4(F9):c.1106T>C (p.Leu369Pro) rs1603267393
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
NM_000133.4(F9):c.1272C>A (p.Phe424Leu)
NM_000133.4(F9):c.1295G>C (p.Gly432Ala) rs1928130497
NM_000133.4(F9):c.1303T>G (p.Cys435Gly)
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) rs1603267474
NM_000133.4(F9):c.1325G>C (p.Gly442Ala)
NM_000133.4(F9):c.1325G>T (p.Gly442Val)
NM_000133.4(F9):c.1372del (p.Thr458fs)
NM_000133.4(F9):c.141T>A (p.Tyr47Ter) rs1556435929
NM_000133.4(F9):c.190T>C (p.Cys64Arg) rs137852224
NM_000133.4(F9):c.196G>A (p.Glu66Lys) rs1569481975
NM_000133.4(F9):c.236A>T (p.Glu79Val)
NM_000133.4(F9):c.251C>T (p.Thr84Ile)
NM_000133.4(F9):c.271T>A (p.Tyr91Asn) rs1927507602
NM_000133.4(F9):c.277+5G>A
NM_000133.4(F9):c.280G>A (p.Gly94Arg) rs1556437035
NM_000133.4(F9):c.284A>C (p.Asp95Ala) rs1927589695
NM_000133.4(F9):c.284A>T (p.Asp95Val) rs1927589695
NM_000133.4(F9):c.302C>A (p.Pro101Gln) rs2148357901
NM_000133.4(F9):c.314G>A (p.Gly105Asp) rs1927590546
NM_000133.4(F9):c.365G>T (p.Gly122Val) rs1927592770
NM_000133.4(F9):c.368T>C (p.Phe123Ser) rs1927592901
NM_000133.4(F9):c.382T>C (p.Cys128Arg)
NM_000133.4(F9):c.391+5G>A rs2148358021
NM_000133.4(F9):c.391+5_391+8del rs1927593812
NM_000133.4(F9):c.482A>G (p.Tyr161Cys) rs1927768329
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
NM_000133.4(F9):c.519dup (p.Val174fs) rs1556006174
NM_000133.4(F9):c.520G>A (p.Val174Met) rs1603265504
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.718T>G (p.Trp240Gly) rs1390220758
NM_000133.4(F9):c.724-5_731del rs1603267163
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.756T>G (p.Cys252Trp) rs1556008316
NM_000133.4(F9):c.757G>A (p.Gly253Arg) rs1603267181
NM_000133.4(F9):c.796G>A (p.Ala266Thr)
NM_000133.4(F9):c.802T>A (p.Cys268Ser) rs1603267194
NM_000133.4(F9):c.827_828del (p.Thr276fs)
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.835G>C (p.Ala279Pro) rs137852247
NM_000133.4(F9):c.845A>G (p.His282Arg) rs753654616
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
NM_000133.4(F9):c.86C>T (p.Thr29Ile)
NM_000133.4(F9):c.88+1G>A rs1603263397
NM_000133.4(F9):c.88+5G>T rs1603263401
NM_000133.4(F9):c.884_895del (p.Asn295_Arg298del) rs1928103331
NM_000133.4(F9):c.88G>A (p.Val30Ile) rs1603263395
NM_000133.4(F9):c.914A>G (p.Tyr305Cys) rs1603267332
NM_000133.4(F9):c.947T>C (p.Ile316Thr) rs1603267344
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1006+1G>A
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1083+1G>A
NM_000135.4(FANCA):c.1083+1del
NM_000135.4(FANCA):c.1084-1G>T
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter) rs2040091746
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
NM_000135.4(FANCA):c.1225+2T>A
NM_000135.4(FANCA):c.1225+2T>G
NM_000135.4(FANCA):c.1226-1G>C rs1417768931
NM_000135.4(FANCA):c.1226-2A>C
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1308G>C (p.Gln436His) rs1316078638
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
NM_000135.4(FANCA):c.1340C>A (p.Ser447Ter)
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1360-2A>G
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter) rs2039845162
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter) rs1598136954
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
NM_000135.4(FANCA):c.1566+1G>T
NM_000135.4(FANCA):c.1566+2C>G
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter) rs2039768709
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1627-2A>G rs2143433058
NM_000135.4(FANCA):c.1630del (p.His544fs)
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs) rs2039643136
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.1715+1G>A
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1715+3_1715+13del rs2143432038
NM_000135.4(FANCA):c.1716-2A>G
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-2A>G rs2143422990
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter) rs938278864
NM_000135.4(FANCA):c.1826+2T>A rs2039603867
NM_000135.4(FANCA):c.1826+2T>C
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.1844del (p.Pro615fs)
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2_203del rs2143711687
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter) rs140785340
NM_000135.4(FANCA):c.1952del (p.Gly651fs)
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2014+1G>A
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2015-2A>C rs2143351760
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) rs2143351554
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2152-1G>A
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2223-2A>T
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter) rs1338018512
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
NM_000135.4(FANCA):c.2314del (p.Gln772fs)
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2317-1G>A rs1230207719
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter) rs2039261844
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter) rs772477788
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2504+1G>C rs2039260545
NM_000135.4(FANCA):c.2505-1G>C rs1438990537
NM_000135.4(FANCA):c.2505-2A>C
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2562_2564delinsGA (p.Asp854fs)
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)
NM_000135.4(FANCA):c.2685del (p.Leu896fs)
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.4(FANCA):c.2728_2731del (p.Leu910fs)
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) rs879255255
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2779-1G>T rs2143261385
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+1_283+11del rs2143710613
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-1G>C rs781216924
NM_000135.4(FANCA):c.284-2A>C
NM_000135.4(FANCA):c.284-940_339del
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter) rs2038967261
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2909C>A (p.Ser970Ter)
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2981+1G>T
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter) rs2038618125
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3066+1G>C
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3067-2A>G rs2143140176
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3091del (p.Gln1031fs) rs2143139861
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter) rs2038519770
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs) rs2143138507
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
NM_000135.4(FANCA):c.3217_3218del (p.Arg1073fs)
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3240-1G>A rs2038478071
NM_000135.4(FANCA):c.3240-2A>G rs2038478110
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) rs752837228
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.337_338del (p.Ala114fs) rs2143680554
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3409-25_3418del
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3_3417del
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3504_3513+55del
NM_000135.4(FANCA):c.3513+1G>C
NM_000135.4(FANCA):c.3514-1G>C
NM_000135.4(FANCA):c.3514-1G>T rs2143088468
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3626+1G>C rs34885858
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3626+2T>G
NM_000135.4(FANCA):c.3627-2A>G
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter) rs2062172011
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter) rs2040857662
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter) rs752126515
NM_000135.4(FANCA):c.3759_3762del (p.Glu1254fs)
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
NM_000135.4(FANCA):c.3765+1G>A
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.3766-1G>A
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1del
NM_000135.4(FANCA):c.3829-71_3868del
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) rs1555534060
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4010+1G>A rs2062067810
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4011-1G>A rs761988162
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.4100_4167+2del
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
NM_000135.4(FANCA):c.4164_4167+13del
NM_000135.4(FANCA):c.4167+1G>A
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
NM_000135.4(FANCA):c.423_426+14del rs2143678941
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
NM_000135.4(FANCA):c.4257_4260+16delinsTTCTCA
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.426+2T>A rs1598190568
NM_000135.4(FANCA):c.426+2T>C
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.427-1G>A
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.427-3C>G rs2040847223
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His) rs748856769
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)
NM_000135.4(FANCA):c.4285_4288dup (p.Pro1430fs) rs2049528619
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter) rs1419169954
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter) rs1454055874
NM_000135.4(FANCA):c.522+2T>C rs2143677013
NM_000135.4(FANCA):c.522+2T>G
NM_000135.4(FANCA):c.523-1G>C
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-1del
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
NM_000135.4(FANCA):c.596+1G>A
NM_000135.4(FANCA):c.596+1G>C rs2143656696
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.598del (p.His200fs)
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter) rs775697743
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-1G>A
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.710-1G>T
NM_000135.4(FANCA):c.714dup (p.Val239fs)
NM_000135.4(FANCA):c.734_756delinsA (p.Arg245fs)
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.793-2A>G
NM_000135.4(FANCA):c.793-2A>T
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.80-2A>G
NM_000135.4(FANCA):c.80-99_105del
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000135.4(FANCA):c.827-1G>A
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.832dup (p.Leu278fs)
NM_000135.4(FANCA):c.83del (p.Gly28fs)
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.893+1G>C
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.94del (p.Arg32fs)
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.976C>T (p.Gln326Ter)
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000135.4:c.1901_3240del
NM_000135.4:c.710_894del
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter) rs2072504418
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1073-2A>G
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter) rs2072245226
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1155-2A>G rs1343170313
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1228del (p.Gln410fs)
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1297del (p.Arg433fs)
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1330-2A>C rs2134456820
NM_000136.3(FANCC):c.1330-2A>G
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.177_178del (p.Val60fs)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
NM_000136.3(FANCC):c.250+1G>A rs2136090597
NM_000136.3(FANCC):c.250+1G>T
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.2T>C (p.Met1Thr) rs2136102345
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+1G>A rs2135587402
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter) rs1825652774
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.494_495del (p.His165fs) rs1564719151
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.560del (p.Cys187fs)
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter) rs1830059125
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter) rs1827526425
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+1G>T rs587779909
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.844-1G>T rs774209201
NM_000136.3(FANCC):c.883dup (p.Asp295fs) rs1826007748
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>A rs863224441
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.897-1G>A rs1588101086
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>C rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000136.3(FANCC):c.996+2T>C
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-161C>T rs398124636
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.217C>T (p.Leu73Phe) rs121908063
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_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1269+1G>A
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
NM_000175.5(GPI):c.283-2A>G
NM_000175.5(GPI):c.804+1_804+2del
NM_000175.5(GPI):c.812del (p.Gly271fs) rs2145419704
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
NM_000184.3(HBG2):c.86T>A (p.Leu29Gln)
NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)
NM_000186.4(CFH):c.1520-2A>G
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer)
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) rs1653042358
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)
NM_000186.4(CFH):c.47del (p.Cys16fs)
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg) rs2132884703
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000195.4(HPS1):c.1602_1605delCCTA
NM_000195.5(HPS1):c.1065del (p.Asn356fs)
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) rs1303126934
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
NM_000195.5(HPS1):c.1335+1G>A
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter) rs552340796
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1473dup (p.Ser492fs) rs1278834481
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1519dup (p.Gln507fs)
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.1925del (p.Gly642fs) rs2136083690
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2001_2003delinsCCC (p.Leu668Pro)
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.238del (p.Leu80fs) rs1453977337
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)
NM_000195.5(HPS1):c.398+2T>G
NM_000195.5(HPS1):c.399-14G>A rs1260083432
NM_000195.5(HPS1):c.410del (p.Pro137fs)
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
NM_000195.5(HPS1):c.507+2T>G rs1591109881
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
NM_000195.5(HPS1):c.668+1G>A
NM_000195.5(HPS1):c.669-1G>C
NM_000195.5(HPS1):c.721del (p.Val241fs)
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
NM_000195.5(HPS1):c.769-14_834del
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.807del (p.Val270fs)
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) rs1938751649
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
NM_000195.5(HPS1):c.847_848delinsTA (p.Gly283Ter)
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) rs1846105381
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)
NM_000195.5(HPS1):c.937+1G>A
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser) rs962689701
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.97_100del (p.Ser33fs) rs2136327710
NM_000195.5(HPS1):c.987+1G>A
NM_000195.5(HPS1):c.988-44_1023delinsT rs1591055649
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) rs759676430
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000204.5(CFI):c.1169dup (p.Tyr390Ter)
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)
NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)
NM_000204.5(CFI):c.1576G>T (p.Gly526Ter)
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) rs2083749716
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_000211.5(ITGB2):c.59-1G>A
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.741+1G>A rs1131691763
NM_000211.5(ITGB2):c.742-163_768del
NM_000211.5(ITGB2):c.898-1G>C rs755834578
NM_000211.5(ITGB2):c.993+1G>T
NM_000211.5(ITGB2):c.994-1G>C rs1293268696
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.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.1448G>A (p.Cys483Tyr)
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.1835G>A (p.Cys612Tyr) rs2143130239
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.2085C>G (p.Tyr695Ter)
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.2302-1G>A rs2143158065
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.428T>C (p.Leu143Ser)
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.563C>T (p.Ser188Leu)
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_000215.4(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2459A>T (p.Asp820Val) rs121913682
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.590C>T (p.Ser197Leu) rs2109674601
NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)
NM_000250.2(MPO):c.402G>A (p.Trp134Ter)
NM_000250.2(MPO):c.[1281del];[518A>G]
NM_000250.2(MPO):c.[2031-2A>C];[752T>C]
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2406-1G>A
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.34+2T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs) rs1584370623
NM_000289.6(PFKM):c.-8-2A>G
NM_000289.6(PFKM):c.1042del (p.Leu348fs)
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1062+2T>C rs2135957798
NM_000289.6(PFKM):c.1127+1G>T rs2135976459
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1192-2A>G
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1338del (p.Gln447fs) rs2135995131
NM_000289.6(PFKM):c.1341+1G>A
NM_000289.6(PFKM):c.1341+1G>C
NM_000289.6(PFKM):c.1342-1G>C
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1412+2T>C
NM_000289.6(PFKM):c.1413-64A>G rs1202417178
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
NM_000289.6(PFKM):c.1459_1463del (p.Thr486_Lys487insTer)
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
NM_000289.6(PFKM):c.1500+2T>A
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1614dup (p.Ser539fs)
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
NM_000289.6(PFKM):c.1653+2T>G
NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.1992+1G>T
NM_000289.6(PFKM):c.2047_2092+14del
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2092+2T>C
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
NM_000289.6(PFKM):c.420del (p.Ala142fs)
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
NM_000289.6(PFKM):c.582del (p.Thr195fs)
NM_000289.6(PFKM):c.594-1G>A
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)
NM_000289.6(PFKM):c.631dup (p.His211fs)
NM_000289.6(PFKM):c.638+1G>T
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
NM_000289.6(PFKM):c.85+1G>A
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
NM_000289.6(PFKM):c.86-1G>C
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
NM_000289.6(PFKM):c.877dup (p.Val293fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)
NM_000298.6(PKLR):c.1417G>A (p.Val473Met)
NM_000298.6(PKLR):c.1461C>A (p.Tyr487Ter)
NM_000298.6(PKLR):c.1492C>A (p.Arg498Ser)
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser) rs1674554041
NM_000298.6(PKLR):c.1618+1G>A
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.68T>G (p.Leu23Ter)
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
NM_000298.6(PKLR):c.914G>A (p.Gly305Glu)
NM_000298.6(PKLR):c.958G>A (p.Val320Met)
NM_000298.6(PKLR):c.965+1G>A
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000312.4(PROC):c.1005G>C (p.Gln335His)
NM_000312.4(PROC):c.1019C>A (p.Thr340Lys) rs766261022
NM_000312.4(PROC):c.1154T>C (p.Met385Thr) rs1688692269
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.1166G>C (p.Gly389Ala) rs1305782685
NM_000312.4(PROC):c.1242G>A (p.Trp414Ter) rs1558718572
NM_000312.4(PROC):c.1265G>A (p.Trp422Ter)
NM_000312.4(PROC):c.1267G>A (p.Gly423Ser) rs1688706297
NM_000312.4(PROC):c.1321T>C (p.Tyr441His)
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.199G>A (p.Glu67Lys) rs1448630830
NM_000312.4(PROC):c.238-1G>A rs1553423955
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000312.4(PROC):c.352T>C (p.Phe118Leu) rs1553424043
NM_000312.4(PROC):c.382G>C (p.Gly128Arg)
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.472C>T (p.Arg158Trp) rs2104954798
NM_000312.4(PROC):c.497A>G (p.Tyr166Cys)
NM_000312.4(PROC):c.508G>T (p.Asp170Tyr) rs2104954946
NM_000312.4(PROC):c.532G>C (p.Ala178Pro) rs1254257945
NM_000312.4(PROC):c.548G>T (p.Cys183Phe) rs1284942525
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) rs199469476
NM_000312.4(PROC):c.659G>C (p.Arg220Pro) rs121918153
NM_000312.4(PROC):c.673T>C (p.Trp225Arg) rs1277271891
NM_000312.4(PROC):c.752C>A (p.Ala251Glu) rs568121876
NM_000312.4(PROC):c.76G>A (p.Val26Met) rs754243426
NM_000312.4(PROC):c.790A>G (p.Arg264Gly)
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.797-2A>T rs1186036467
NM_000312.4(PROC):c.862C>T (p.His288Tyr) rs1688667609
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
NM_000312.4(PROC):c.983G>A (p.Arg328His) rs1688677671
NM_000312.4(PROC):c.989T>C (p.Leu330Pro)
NM_000313.3(PROS1):c.-168C>T rs199469484
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly) rs1576180176
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn) rs1437372036
NM_000313.4(PROS1):c.1155+2T>C
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.1284del (p.Gly429fs) rs1576176794
NM_000313.4(PROS1):c.1323_1323+1del rs1708347661
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro) rs2107137626
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.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg)
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1514del (p.Gly505fs) rs1576173175
NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys) rs199469500
NM_000313.4(PROS1):c.1544G>C (p.Arg515Pro)
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg) rs2107202922
NM_000313.4(PROS1):c.1684A>T (p.Ile562Leu) rs1380889353
NM_000313.4(PROS1):c.1862G>T (p.Gly621Val) rs2107124949
NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser) rs2107120174
NM_000313.4(PROS1):c.2000_2001inv (p.Pro667Leu)
NM_000313.4(PROS1):c.215T>C (p.Phe72Ser)
NM_000313.4(PROS1):c.235-1G>A rs1708985469
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.344_346+7del
NM_000313.4(PROS1):c.346+1G>T
NM_000313.4(PROS1):c.346+2T>A
NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)
NM_000313.4(PROS1):c.49dup (p.Leu17fs) rs1575904540
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr) rs779391826
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg) rs2107170811
NM_000313.4(PROS1):c.601+1G>A rs1708665916
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
NM_000313.4(PROS1):c.727+1G>A rs1332591784
NM_000313.4(PROS1):c.728-1G>A rs368074804
NM_000313.4(PROS1):c.728-1G>T
NM_000313.4(PROS1):c.76+1G>A rs2107279041
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) rs1576182848
NM_000313.4(PROS1):c.769_770del (p.Val257fs)
NM_000313.4(PROS1):c.785del (p.Gly262fs) rs1576182838
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)
NM_000313.4(PROS1):c.849+2T>G
NM_000313.4(PROS1):c.913C>T (p.Gln305Ter) rs1395378093
NM_000313.4(PROS1):c.970T>C (p.Ser324Pro) rs1576180280
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000324.3(RHAG):c.1108G>A (p.Gly370Arg)
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) rs2047407019
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) rs1555596165
NM_000342.4(SLC4A1):c.1484_1490del (p.Phe495fs)
NM_000342.4(SLC4A1):c.2115C>G (p.Asp705Glu)
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)
NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val) rs121912741
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.2464del (p.Val822fs)
NM_000342.4(SLC4A1):c.2492G>A (p.Trp831Ter)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.258-1G>A
NM_000355.4(TCN2):c.428-2A>G rs2087581122
NM_000355.4(TCN2):c.580+1G>C
NM_000355.4(TCN2):c.65-1_65delinsTT rs2145536487
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945
NM_000355.4(TCN2):c.941-2A>G
NM_000361.3(THBD):c.1611C>A (p.Cys537Ter) rs1600409143
NM_000361.3(THBD):c.245del (p.Gly82fs) rs1600410451
NM_000361.3(THBD):c.752G>A (p.Gly251Asp) rs1287823727
NM_000365.6(TPI1):c.32del (p.Gly11fs)
NM_000365.6(TPI1):c.544-1G>C rs2138094606
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)
NM_000377.3(WAS):c.1052del (p.Pro351fs) rs2147266405
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs) rs2147266901
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr) rs2147262523
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.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.226_228del (p.Lys76del)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.315dup (p.Val106fs)
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) rs1557006534
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.753del (p.Trp252fs)
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.778-1G>A rs2147265861
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000397.4(CYBB):c.1081T>A (p.Trp361Arg)
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.1152-1G>A rs1929527785
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg) rs1556471150
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000397.4(CYBB):c.1385A>C (p.Glu462Ala)
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.160A>G (p.Arg54Gly)
NM_000397.4(CYBB):c.1610G>T (p.Cys537Phe)
NM_000397.4(CYBB):c.1618del (p.Glu540fs) rs1556473078
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.169G>T (p.Ala57Ser)
NM_000397.4(CYBB):c.252+5G>C rs1602175016
NM_000397.4(CYBB):c.253-8A>G rs1064793093
NM_000397.4(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro) rs2146810272
NM_000397.4(CYBB):c.45+2del rs1602173465
NM_000397.4(CYBB):c.483+5G>A rs1929245964
NM_000397.4(CYBB):c.483G>A (p.Lys161=)
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.66C>A (p.Asn22Lys) rs193922450
NM_000397.4(CYBB):c.769T>C (p.Cys257Arg) rs2146813743
NM_000397.4(CYBB):c.785T>G (p.Phe262Cys) rs2146813757
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp)
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) rs137852319
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
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.53_65del (p.Pro18fs)
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.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.189-1G>C
NM_000419.5(ITGA2B):c.1946+2T>G
NM_000419.5(ITGA2B):c.1946+3G>T
NM_000419.5(ITGA2B):c.1973del (p.Ala658fs) rs1598378490
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.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile) rs2143447323
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.224del (p.Gly75fs) rs1567906131
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
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.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.2602-2A>G rs2143436505
NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe) rs77458039
NM_000419.5(ITGA2B):c.2828C>T (p.Pro943Leu)
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.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.591C>G (p.Tyr197Ter)
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_000433.4(NCF2):c.1000+1G>A rs2102887348
NM_000433.4(NCF2):c.1026+1G>C rs1558092897
NM_000433.4(NCF2):c.1098_1099del (p.Gln367fs)
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.1438del (p.Glu480fs) rs2102875639
NM_000433.4(NCF2):c.196_197insA (p.Arg66fs)
NM_000433.4(NCF2):c.257+1G>A rs990043411
NM_000433.4(NCF2):c.290C>A (p.Ala97Asp)
NM_000433.4(NCF2):c.367-1G>A rs759285400
NM_000433.4(NCF2):c.375_376del (p.Tyr125_Asn126delinsTer)
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
NM_000433.4(NCF2):c.609+1G>A rs2102903043
NM_000433.4(NCF2):c.609+2T>C
NM_000433.4(NCF2):c.669+1G>A rs2102898304
NM_000433.4(NCF2):c.714-2A>G
NM_000433.4(NCF2):c.925-2A>G
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000460.4(THPO):c.-64_-63dup
NM_000460.4(THPO):c.13+2T>C rs1714390786
NM_000460.4(THPO):c.91C>T (p.Arg31Ter)
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del) rs1574706907
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000477.7(ALB):c.656_659del (p.Lys219fs)
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) rs2102782517
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1153+5G>T rs1572088348
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1154-50_1218+50del rs1572086894
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr) rs121909558
NM_000488.4(SERPINC1):c.1219-1G>A
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro) rs121909549
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala) rs1487411568
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) rs121909555
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.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.173dup (p.Glu59fs) rs1572092076
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) rs121909547
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)
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.41+5G>A
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)
NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro) rs2102786101
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.550del (p.Thr185fs) rs1572090173
NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)
NM_000488.4(SERPINC1):c.624+1G>A rs1572090079
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr) rs483352854
NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)
NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)
NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)
NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer) rs1572088853
NM_000488.4(SERPINC1):c.801_805del (p.Lys268fs) rs1572088823
NM_000488.4(SERPINC1):c.819G>C (p.Lys273Asn) rs2102783199
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr)
NM_000488.4(SERPINC1):c.851T>G (p.Met284Arg) rs1572088737
NM_000488.4(SERPINC1):c.938T>C (p.Met313Thr)
NM_000488.4(SERPINC1):c.951G>T (p.Leu317Phe) rs1468108124
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494
NM_000489.6(ATRX):c.559T>G (p.Tyr187Asp)
NM_000504.4(F10):c.1036C>T (p.Arg346Cys)
NM_000504.4(F10):c.1087G>A (p.Gly363Ser) rs1595099527
NM_000504.4(F10):c.119G>C (p.Arg40Thr)
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) rs1595099645
NM_000504.4(F10):c.1252G>C (p.Asp418His) rs2138557799
NM_000504.4(F10):c.1325G>A (p.Gly442Asp) rs1233330150
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.167A>G (p.Glu56Gly)
NM_000504.4(F10):c.205G>A (p.Glu69Lys) rs1325135019
NM_000504.4(F10):c.212T>C (p.Phe71Ser)
NM_000504.4(F10):c.232-2563_503-451del
NM_000504.4(F10):c.248_251del (p.Lys83fs)
NM_000504.4(F10):c.256G>A (p.Asp86Asn)
NM_000504.4(F10):c.270T>A (p.Cys90Ter)
NM_000504.4(F10):c.299_300del (p.Lys100fs)
NM_000504.4(F10):c.305_306del (p.Lys102fs)
NM_000504.4(F10):c.815T>C (p.Leu272Pro)
NM_000505.4(F12):c.1517del (p.Gly506fs)
NM_000505.4(F12):c.1561G>A (p.Glu521Lys)
NM_000505.4(F12):c.415C>T (p.Gln139Ter)
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000506.5(F2):c.1070A>G (p.Glu357Gly) rs2134533215
NM_000506.5(F2):c.1094T>A (p.Val365Glu) rs747234596
NM_000506.5(F2):c.118C>T (p.Arg40Trp)
NM_000506.5(F2):c.1270G>A (p.Val424Met) rs1310397756
NM_000506.5(F2):c.1496G>A (p.Gly499Glu) rs2134537035
NM_000506.5(F2):c.1621C>T (p.Arg541Trp) rs886048338
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.422+1G>A
NM_000506.5(F2):c.995G>C (p.Gly332Ala) rs2134532862
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro) rs41323248
NM_000517.6(HBA2):c.268_280del (p.His90fs) rs1596570041
NM_000517.6(HBA2):c.2T>G (p.Met1Arg)
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) rs1263969213
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.46G>T (p.Gly16Cys) rs281864811
NM_000518.4(HBB):c.-136C>A
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.-121C>T rs281864518
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126dup (p.Phe43fs) rs2133588679
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.269del (p.Ser90fs) rs2133587981
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) rs34533941
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.396_397del (p.Lys133fs) rs63750320
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.332T>G (p.Leu111Arg) rs1057519997
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.6(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.6(TP53):c.726C>G (p.Cys242Trp) rs375874539
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.6(TP53):c.764T>G (p.Ile255Ser) rs876659675
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.6(TP53):c.801G>C (p.Arg267=)
NM_000546.6(TP53):c.806G>T (p.Ser269Ile)
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.6(TP53):c.977A>T (p.Glu326Val)
NM_000551.4(VHL):c.-89_-51del
NM_000551.4(VHL):c.160A>T (p.Met54Leu) rs1696125033
NM_000551.4(VHL):c.161T>G (p.Met54Arg)
NM_000551.4(VHL):c.162G>A (p.Met54Ile)
NM_000551.4(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.4(VHL):c.190C>A (p.Arg64Ser) rs1487408934
NM_000551.4(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.4(VHL):c.208G>C (p.Glu70Gln) rs5030802
NM_000551.4(VHL):c.220G>T (p.Val74Phe)
NM_000551.4(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.4(VHL):c.242C>A (p.Pro81Gln) rs193922608
NM_000551.4(VHL):c.245G>A (p.Arg82His) rs794726890
NM_000551.4(VHL):c.265C>T (p.Leu89Phe) rs1575922124
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.4(VHL):c.302T>C (p.Leu101Pro) rs1553619456
NM_000551.4(VHL):c.308C>T (p.Pro103Leu) rs2125125299
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.340+574A>T rs982745672
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.362A>T (p.Asp121Val) rs5030832
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr) rs2125128340
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.446C>T (p.Ala149Val) rs1696266503
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
NM_000551.4(VHL):c.460C>G (p.Pro154Ala) rs1553619993
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.563T>G (p.Leu188Arg) rs1559429824
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr) rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.593T>A (p.Leu198Gln) rs869025667
NM_000551.4(VHL):c.599G>T (p.Arg200Leu) rs754016774
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
NM_000551.4(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000552.5(VWF):c.1051del (p.Val351fs) rs2136470584
NM_000552.5(VWF):c.1156+1G>A
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)
NM_000552.5(VWF):c.1293+2T>C rs1591895879
NM_000552.5(VWF):c.1339del (p.Arg447fs) rs1591895308
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.1708T>C (p.Cys570Arg) rs2136455744
NM_000552.5(VWF):c.1931_1945+5del rs2136454053
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe) rs1438247325
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.212C>A (p.Ser71Ter) rs62643619
NM_000552.5(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.5(VWF):c.221-6_532+30del rs1591924208
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp) rs2136440319
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2546+3G>C rs1565838728
NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr) rs772796741
NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs) rs1591874316
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.2968-1G>A
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys) rs267607316
NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs) rs2136418339
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3515G>T (p.Gly1172Val) rs1555195293
NM_000552.5(VWF):c.3538+1G>C
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
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.3569G>T (p.Cys1190Phe)
NM_000552.5(VWF):c.3675-1G>A rs746457842
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs) rs2136413792
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu) rs61749375
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs) rs61749377
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu) rs61749388
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn) rs2136413547
NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro) rs2136413535
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.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) rs61749403
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.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4205A>C (p.Gln1402Pro)
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
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.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp) rs2136412846
NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys) rs61750082
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.4276C>A (p.Arg1426Ser) rs555366738
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)
NM_000552.5(VWF):c.4414del (p.Asp1472fs) rs2136412581
NM_000552.5(VWF):c.4470del (p.Lys1491fs) rs2136412494
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.4551C>G (p.Ser1517Arg) rs2136412350
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys) rs2136412168
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
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.4667A>G (p.Gln1556Arg) rs61750110
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) rs267607349
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del) rs2136411706
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg) rs61750585
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) rs1591862022
NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro) rs61750593
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu) rs61750596
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del) rs2136409523
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg) rs2136409514
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe) rs2136409487
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.5170+1G>A rs764543553
NM_000552.5(VWF):c.5281dup (p.Met1761fs)
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.5(VWF):c.533-2A>G rs267607301
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.5520dup (p.Gly1841fs) rs1591858979
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)
NM_000552.5(VWF):c.592C>T (p.Gln198Ter) rs2136500386
NM_000552.5(VWF):c.6227del (p.Thr2076fs) rs2136385937
NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr) rs1591848387
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr) rs2136385288
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser) rs2136385288
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg) rs2136376158
NM_000552.5(VWF):c.6854del (p.Ser2285fs)
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser) rs1256082707
NM_000552.5(VWF):c.7082-2A>G rs267607358
NM_000552.5(VWF):c.7090A>T (p.Lys2364Ter)
NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)
NM_000552.5(VWF):c.7288-1G>A
NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr) rs1591838833
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
NM_000552.5(VWF):c.7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7580C>A (p.Pro2527His) rs1943442849
NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.7730-1G>C rs267607366
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.780dup (p.Leu261fs)
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.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.5(VWF):c.8155+1G>T rs1943194455
NM_000552.5(VWF):c.8155+2_8155+3del rs2136338728
NM_000552.5(VWF):c.8155+3G>C rs61751304
NM_000552.5(VWF):c.8155+6T>C rs1223422347
NM_000552.5(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.5(VWF):c.823T>C (p.Cys275Arg) rs61753998
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368
NM_000552.5(VWF):c.949del (p.Ile317fs) rs2136472072
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
NM_000558.5(HBA1):c.2del (p.Met1fs) rs1298047912
NM_000558.5(HBA1):c.300+1G>A rs758093235
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.60del (p.His21fs)
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507
NM_000558.5(HBA1):c.98T>G (p.Met33Arg)
NM_000558.5(HBA1):c.99G>A (p.Met33Ile)
NM_000611.6(CD59):c.83G>A (p.Cys28Tyr) rs1853849281
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) rs1592380743
NM_000626.4(CD79B):c.586T>C (p.Tyr196His)
NM_000631.5(NCF4):c.270_271+16del rs1939893821
NM_000631.5(NCF4):c.33-1G>A rs2145702588
NM_000631.5(NCF4):c.471-1G>A
NM_000631.5(NCF4):c.614_615del (p.Lys205fs)
NM_000637.5(GSR):c.342del (p.Met113_Trp114insTer)
NM_000637.5(GSR):c.640G>A (p.Gly214Ser)
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
NM_000760.4(CSF3R):c.1576+1G>A rs1031224658
NM_000760.4(CSF3R):c.1577-1G>A
NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) rs1057519776
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.361+1G>T
NM_000760.4(CSF3R):c.65-1G>A
NM_000760.4(CSF3R):c.65-2A>C
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.998-1G>A rs1248511242
NM_000760.4(CSF3R):c.998-2A>T rs879253750
NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly)
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) rs1691898752
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) rs1692107154
NM_000821.7(GGCX):c.973dup (p.Arg325fs) rs768019203
NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn) rs142420360
NM_000892.5(KLKB1):c.870del (p.Glu290fs)
NM_000892.5(KLKB1):c.940G>T (p.Gly314Ter)
NM_000969.5(RPL5):c.122_144del (p.Lys41fs) rs2100676969
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter) rs2100677045
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)
NM_000969.5(RPL5):c.189+1G>C
NM_000969.5(RPL5):c.189+2T>G rs1687004626
NM_000969.5(RPL5):c.190-7_190-2del rs1064796479
NM_000969.5(RPL5):c.3+1G>A
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.4-10T>A rs1686989669
NM_000969.5(RPL5):c.4-1G>A
NM_000969.5(RPL5):c.509del (p.Gly170fs)
NM_000969.5(RPL5):c.527+1G>T rs2100685111
NM_000969.5(RPL5):c.613dup (p.Ala205fs) rs2100688414
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000969.5(RPL5):c.74-2A>G rs2100676852
NM_000969.5(RPL5):c.74-2del
NM_000975.5(RPL11):c.136_157+26del rs2124429146
NM_000975.5(RPL11):c.142_143dup (p.Val49fs) rs1570566714
NM_000975.5(RPL11):c.264+1G>A rs1553121795
NM_000975.5(RPL11):c.265-2A>G rs2124430919
NM_000975.5(RPL11):c.296_298del (p.Phe99del) rs1553121852
NM_000975.5(RPL11):c.397-2A>G rs2124432051
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs)
NM_000975.5(RPL11):c.508-1G>A
NM_000975.5(RPL11):c.508-9_508-5del
NM_000987.5(RPL26):c.-5-2A>G
NM_000987.5(RPL26):c.-6+3_-6+25del
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.164+1G>A rs113752862
NM_000996.4(RPL35A):c.165-16_166del
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr) rs1720051488
NM_001001548.3(CD36):c.107del (p.Lys36fs) rs754478799
NM_001001548.3(CD36):c.1126-1G>A
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001001548.3(CD36):c.1206_1230dup (p.Val411fs)
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.1313_1316dup (p.Leu440fs)
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.380C>G (p.Ser127Ter) rs201765331
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.511del (p.Gln171fs)
NM_001001548.3(CD36):c.588del (p.Thr197fs)
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.784dup (p.Gln262fs) rs766920034
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_001002010.5(NT5C3A):c.342dup (p.Cys115fs) rs2127996432
NM_001006658.3(CR2):c.2040del (p.Phe680fs)
NM_001006658.3(CR2):c.2240+1G>A
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) rs1658388636
NM_001006658.3(CR2):c.2716+2T>C rs2102307813
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu) rs764859619
NM_001006658.3(CR2):c.3089-1G>A rs1365226221
NM_001006658.3(CR2):c.3188+2del rs1658562210
NM_001006658.3(CR2):c.590G>C (p.Cys197Ser)
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001011.4(RPS7):c.-19+1G>A rs1064796859
NM_001011.4(RPS7):c.-19+1G>C rs1064796859
NM_001011.4(RPS7):c.508-3T>G rs1572360944
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)
NM_001011.4(RPS7):c.75+1G>T
NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)
NM_001012339.3(DNAJC21):c.316-2A>C
NM_001012339.3(DNAJC21):c.983+1G>T rs368148362
NM_001014.5(RPS10):c.401-2A>G rs1765648528
NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
NM_001018115.3(FANCD2):c.1042del (p.Asp348fs)
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1098+2T>A
NM_001018115.3(FANCD2):c.1134+1G>A
NM_001018115.3(FANCD2):c.1135-1G>C
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs) rs2125000228
NM_001018115.3(FANCD2):c.1243C>T (p.Gln415Ter)
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1278+1G>T
NM_001018115.3(FANCD2):c.1279-2A>C
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
NM_001018115.3(FANCD2):c.1413+2T>C rs1459222478
NM_001018115.3(FANCD2):c.1545+1G>T
NM_001018115.3(FANCD2):c.1546-1G>A
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
NM_001018115.3(FANCD2):c.1656+1G>A
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1710C>G (p.Tyr570Ter)
NM_001018115.3(FANCD2):c.1766+1G>A
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
NM_001018115.3(FANCD2):c.1827+1G>C rs761074497
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.188_191del (p.Glu63fs)
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
NM_001018115.3(FANCD2):c.1947+1G>A
NM_001018115.3(FANCD2):c.1948-2A>G
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
NM_001018115.3(FANCD2):c.2021+1G>T
NM_001018115.3(FANCD2):c.205+1G>A rs2124970985
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2168_2168+1delinsT rs2087674573
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2270-1G>C
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2404_2405dup (p.Gln802fs)
NM_001018115.3(FANCD2):c.2477del (p.Leu826fs)
NM_001018115.3(FANCD2):c.2495-2A>G
NM_001018115.3(FANCD2):c.2497dup (p.Thr833fs)
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
NM_001018115.3(FANCD2):c.2672C>A (p.Ser891Ter)
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2778_2779delinsGT (p.Glu927Ter)
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.2860-2A>G
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) rs1575824608
NM_001018115.3(FANCD2):c.3224+1G>C
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3313C>T (p.Gln1105Ter)
NM_001018115.3(FANCD2):c.3335+1G>A
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3466+1G>A
NM_001018115.3(FANCD2):c.3467-2A>G
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.3561-1del rs2125077559
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001018115.3(FANCD2):c.3749_3777+789del rs2125081509
NM_001018115.3(FANCD2):c.377+2T>C
NM_001018115.3(FANCD2):c.378-1G>C
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
NM_001018115.3(FANCD2):c.3849+1G>A
NM_001018115.3(FANCD2):c.3849+1G>T
NM_001018115.3(FANCD2):c.3889-1G>A
NM_001018115.3(FANCD2):c.3889-2A>G
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3952A>T (p.Arg1318Ter)
NM_001018115.3(FANCD2):c.3963_3963+1inv
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs) rs1575723664
NM_001018115.3(FANCD2):c.4038+2T>G
NM_001018115.3(FANCD2):c.4039-2A>G
NM_001018115.3(FANCD2):c.4045C>T (p.Gln1349Ter)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.458T>G (p.Leu153Ter)
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
NM_001018115.3(FANCD2):c.571-2A>G
NM_001018115.3(FANCD2):c.64+1_64+2del rs777719596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.65-1G>T
NM_001018115.3(FANCD2):c.65-2A>G
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
NM_001018115.3(FANCD2):c.694_695+14del
NM_001018115.3(FANCD2):c.695+1G>A
NM_001018115.3(FANCD2):c.695+2T>A
NM_001018115.3(FANCD2):c.695+2T>G
NM_001018115.3(FANCD2):c.696-121C>G rs2086862509
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.708dup (p.Glu237fs)
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
NM_001018115.3(FANCD2):c.888+1G>A
NM_001018115.3(FANCD2):c.889-2A>G
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.990-2A>G
NM_001021.6(RPS17):c.156-1G>A
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
NM_001022.4(RPS19):c.14del (p.Thr5fs)
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)
NM_001022.4(RPS19):c.356+1G>A rs879993801
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001022.4(RPS19):c.362G>T (p.Arg121Leu)
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.411+2_411+6del
NM_001022.4(RPS19):c.71+1G>C rs2123256342
NM_001022.4(RPS19):c.71del (p.Lys24fs)
NM_001022.4(RPS19):c.72-1G>A rs146366047
NM_001025356.3(ANO6):c.1914_1915del (p.Arg638fs) rs750168369
NM_001029.5(RPS26):c.181+1G>A
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)
NM_001029.5(RPS26):c.224_225del (p.Val75fs) rs1555208596
NM_001029.5(RPS26):c.2T>A (p.Met1Lys)
NM_001029.5(RPS26):c.3+1G>T
NM_001029.5(RPS26):c.3+2T>G rs2136753495
NM_001029.5(RPS26):c.312+1G>C
NM_001029.5(RPS26):c.312+2T>A rs1593023809
NM_001029.5(RPS26):c.313-2A>G
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001029.5(RPS26):c.4-1_6del
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs) rs756183569
NM_001035006.5(RPL17):c.217-3C>G
NM_001035006.5(RPL17):c.452del (p.Thr151fs)
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
NM_001042351.1(G6PD):c.[376A>G;542A>T]
NM_001042492.3(NF1):c.1062+2T>A
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1082del (p.Ser361fs)
NM_001042492.3(NF1):c.1156_1158delinsTT (p.Ile386fs)
NM_001042492.3(NF1):c.1186-1G>C rs876660782
NM_001042492.3(NF1):c.1356del (p.Gly453fs)
NM_001042492.3(NF1):c.146del (p.Tyr49fs)
NM_001042492.3(NF1):c.1564dup (p.Thr522fs) rs2066874810
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1776del (p.Ser592fs)
NM_001042492.3(NF1):c.1876del (p.Leu626fs) rs1597710409
NM_001042492.3(NF1):c.1882_1884delinsAA (p.Tyr628fs)
NM_001042492.3(NF1):c.1997_1998del (p.Ser666fs)
NM_001042492.3(NF1):c.2100dup (p.Glu701Ter)
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001042492.3(NF1):c.2276_2291del (p.Val759fs)
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2294del (p.Arg765fs) rs2151426934
NM_001042492.3(NF1):c.2325+1G>C
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.2576del (p.Gly859fs)
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2842del (p.Gln948fs) rs1555614354
NM_001042492.3(NF1):c.2850+1G>C
NM_001042492.3(NF1):c.2851-1G>C rs1597716274
NM_001042492.3(NF1):c.2952del (p.Gln985fs) rs1555614453
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.319dup (p.Thr107fs)
NM_001042492.3(NF1):c.3314+2T>G rs863224445
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu) rs878853885
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
NM_001042492.3(NF1):c.3686_3690del (p.Asn1229fs)
NM_001042492.3(NF1):c.3878del (p.Gly1293fs)
NM_001042492.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.449del (p.Phe150fs) rs1567817974
NM_001042492.3(NF1):c.454_458del (p.Ala152fs)
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4791del (p.Thr1598fs)
NM_001042492.3(NF1):c.4889_4899del (p.Thr1630fs)
NM_001042492.3(NF1):c.4903del (p.Tyr1635fs)
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
NM_001042492.3(NF1):c.5223del (p.His1741fs)
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-38A>G rs2151540615
NM_001042492.3(NF1):c.5296del (p.Ser1766fs)
NM_001042492.3(NF1):c.5297del (p.Thr1765_Ser1766insTer)
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn) rs1135402871
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val) rs2069668717
NM_001042492.3(NF1):c.6179_6183del (p.Lys2060fs)
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6275del (p.Asn2092fs) rs1555534697
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
NM_001042492.3(NF1):c.6459_6476del (p.Thr2154_Pro2159del)
NM_001042492.3(NF1):c.6512dup (p.Ser2172fs)
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001042492.3(NF1):c.702_708del (p.Tyr235fs) rs2066139158
NM_001042492.3(NF1):c.7386_7387insA (p.Leu2463fs)
NM_001042492.3(NF1):c.7387_7388dup (p.Thr2464fs)
NM_001042492.3(NF1):c.7387del (p.Thr2464fs)
NM_001042492.3(NF1):c.7458-2A>G
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
NM_001042492.3(NF1):c.7777_7778del (p.Leu2593fs)
NM_001042492.3(NF1):c.7894_7895del (p.Thr2631_Asp2632insTer)
NM_001042492.3(NF1):c.7926C>A (p.Tyr2642Ter)
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.8194del (p.Val2732fs)
NM_001042492.3(NF1):c.862_868dup (p.Asp290delinsGlyGlyTer)
NM_001042492.3(NF1):c.966dup (p.Ala323fs)
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) rs760698812
NM_001063.4(TF):c.1444C>T (p.Pro482Ser) rs2107925842
NM_001063.4(TF):c.1825C>T (p.Arg609Trp) rs773139494
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr) rs1594406727
NM_001081.4(CUBN):c.10033-1G>A
NM_001081.4(CUBN):c.1015+1G>A
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10528+1G>A
NM_001081.4(CUBN):c.1230+1G>A rs386833766
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.4(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.4(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.4(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.4(CUBN):c.252+1G>A rs386833776
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.4(CUBN):c.3008+2_3008+5del rs2131844654
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.4(CUBN):c.3829+1G>A
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.489G>A (p.Lys163=) rs386833789
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4969+2T>G
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.5927-1G>A
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.4(CUBN):c.6822-1G>A
NM_001081.4(CUBN):c.7001-2A>T rs2131458620
NM_001081.4(CUBN):c.7001-2del rs756427983
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.8063-1G>A
NM_001081.4(CUBN):c.8755+2T>C
NM_001081.4(CUBN):c.884-1G>A
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001081.4(CUBN):c.9237-1G>C
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001082486.2(ACD):c.152del (p.Thr51fs)
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
NM_001083116.3(PRF1):c.1130G>A (p.Cys377Tyr)
NM_001083116.3(PRF1):c.1213C>T (p.Gln405Ter)
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
NM_001083116.3(PRF1):c.1288G>T (p.Asp430Tyr)
NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)
NM_001083116.3(PRF1):c.1422del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.1573dup (p.Cys525fs)
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)
NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)
NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)
NM_001083116.3(PRF1):c.539+2T>A
NM_001083116.3(PRF1):c.539+2T>G
NM_001083116.3(PRF1):c.563dup (p.Leu189fs) rs1454231642
NM_001083116.3(PRF1):c.581dup (p.Arg195fs)
NM_001083116.3(PRF1):c.726C>A (p.Cys242Ter)
NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)
NM_001083899.2(GP6):c.356_360del (p.Gln119fs)
NM_001085487.3(MYSM1):c.1146_1149del (p.Asp382fs)
NM_001098426.2(SMARCD2):c.391C>T (p.Gln131Ter)
NM_001098426.2(SMARCD2):c.568-1G>C rs112986541
NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter) rs758123382
NM_001098426.2(SMARCD2):c.654del (p.Gly220fs) rs2144630306
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_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
NM_001113378.2(FANCI):c.1055del (p.Asn352fs)
NM_001113378.2(FANCI):c.1112+2T>C
NM_001113378.2(FANCI):c.1113-1G>A rs2151485792
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
NM_001113378.2(FANCI):c.1293+1G>A rs768310043
NM_001113378.2(FANCI):c.1293+1G>T
NM_001113378.2(FANCI):c.1293+2T>G
NM_001113378.2(FANCI):c.1381+1G>T
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
NM_001113378.2(FANCI):c.1512+1G>A rs2151551135
NM_001113378.2(FANCI):c.157+1G>A
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.1584-1G>A
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.165del (p.Cys56fs)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
NM_001113378.2(FANCI):c.1698+1G>A
NM_001113378.2(FANCI):c.1699-2A>C
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
NM_001113378.2(FANCI):c.1890+1G>T
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
NM_001113378.2(FANCI):c.2169+1G>A
NM_001113378.2(FANCI):c.2169+2T>C
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
NM_001113378.2(FANCI):c.2291+1G>A
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2292-1G>T
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2457-2A>G rs2054196709
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2637-1G>C
NM_001113378.2(FANCI):c.2637-1G>T
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2804-1G>C rs2054480330
NM_001113378.2(FANCI):c.2804-2A>G
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2889+1G>A
NM_001113378.2(FANCI):c.2889+2T>C
NM_001113378.2(FANCI):c.289-2A>G
NM_001113378.2(FANCI):c.2890-2A>C
NM_001113378.2(FANCI):c.2907_2908del (p.Leu969fs)
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
NM_001113378.2(FANCI):c.3006+1G>A
NM_001113378.2(FANCI):c.3007-1G>A
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3007-1G>T
NM_001113378.2(FANCI):c.3058+1G>C
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3200_3201insCCAC (p.Glu1067fs)
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3538-2A>T rs1407605188
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
NM_001113378.2(FANCI):c.3578dup (p.Asn1193fs)
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)
NM_001113378.2(FANCI):c.3652-1G>T
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3688_3689del (p.Lys1230fs)
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter)
NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter)
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3924+1G>A rs864622739
NM_001113378.2(FANCI):c.3924+2T>C
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
NM_001113378.2(FANCI):c.446-2A>G
NM_001113378.2(FANCI):c.446del
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
NM_001113378.2(FANCI):c.504-2A>G
NM_001113378.2(FANCI):c.542_545+57del
NM_001113378.2(FANCI):c.545+1G>T
NM_001113378.2(FANCI):c.578_589del (p.Phe193_Lys197delinsTer)
NM_001113378.2(FANCI):c.669+1G>T
NM_001113378.2(FANCI):c.679_682del (p.Lys227fs) rs2151304648
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
NM_001113378.2(FANCI):c.701_702del (p.Ile234fs)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.76_77del (p.Glu26fs)
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.84+2_84+3del
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.2(FANCI):c.85-1G>A
NM_001113378.2(FANCI):c.85-1G>T
NM_001113378.2(FANCI):c.85-2A>G
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.879_882+14del
NM_001113378.2(FANCI):c.882+2T>A rs2053066295
NM_001113378.2(FANCI):c.882+2T>C
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
NM_001113378.2(FANCI):c.976-1G>T
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001114134.2(EPB42):c.1887del (p.Leu630fs)
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile) rs2142314789
NM_001114134.2(EPB42):c.971+8_971+9delinsAA rs2142290623
NM_001127208.3(TET2):c.1438C>T (p.Pro480Ser) rs1578673280
NM_001127208.3(TET2):c.3804-2A>C rs576934285
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.959G>A (p.Arg320Gln) rs1566606055
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_001130053.5(EEF1D):c.1488+1G>A
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys) rs1591100766
NM_001136139.4(TCF3):c.1643_1649dup (p.Asn551fs)
NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr) rs1599413207
NM_001142864.4(PIEZO1):c.136G>A (p.Gly46Ser)
NM_001142864.4(PIEZO1):c.157del (p.Gln53fs)
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) rs1904821405
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)
NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro)
NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser) rs1171390403
NM_001164277.1(SLC37A4):c.529_533del rs2089891548
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1125-1G>A rs782202675
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>A
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.2(SLC37A4):c.188_189delinsT (p.Ser63fs)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) rs781857990
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs) rs1555191580
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs) rs1555191573
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
NM_001164277.2(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-1del rs1555191406
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.494delinsACA (p.Trp165fs)
NM_001164277.2(SLC37A4):c.529del (p.Val177fs)
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs) rs1555191105
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) rs2134635160
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)
NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.785+2T>G rs1592111559
NM_001164277.2(SLC37A4):c.786-1G>A rs1943578039
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G rs2134633880
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>A
NM_001164277.2(SLC37A4):c.986-3_989del rs1555190559
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg) rs751713049
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001243177.4(ALDOA):c.786+2T>C
NM_001243177.4(ALDOA):c.787-2A>G
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.760G>T (p.Glu254Ter)
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
NM_001271696.3(ABCB7):c.1231G>T (p.Val411Leu)
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) rs1057518042
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg) rs2122686345
NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu)
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys) rs751524927
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His) rs121913393
NM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys) rs1801271
NM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe) rs1801271
NM_001288705.3(CSF1R):c.902T>C (p.Leu301Ser) rs121913390
NM_001288705.3(CSF1R):c.903G>T (p.Leu301Phe) rs1057520014
NM_001304717.5(PTEN):c.140GGC[5] (p.Arg52del)
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) rs1595503440
NM_001322934.2(NFKB2):c.104-1G>C rs2061116343
NM_001322934.2(NFKB2):c.1359_1363dup (p.Gln455fs)
NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs) rs1565214594
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs) rs2061278560
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001330360.2(POLA1):c.1627C>A (p.Leu543Ile)
NM_001330360.2(POLA1):c.1864A>G (p.Arg622Gly)
NM_001330360.2(POLA1):c.3455A>G (p.Tyr1152Cys)
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser) rs149680468
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly) rs149680468
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys) rs149680468
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu) rs1057519896
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001355436.2(SPTB):c.1182+2T>C rs2139613101
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)
NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)
NM_001355436.2(SPTB):c.1618dup (p.Ser540fs)
NM_001355436.2(SPTB):c.1759del (p.Ile587fs)
NM_001355436.2(SPTB):c.1795+1G>A rs786204766
NM_001355436.2(SPTB):c.1908del (p.Lys637fs)
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)
NM_001355436.2(SPTB):c.2617G>T (p.Glu873Ter)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)
NM_001355436.2(SPTB):c.3114delinsAAACAT (p.His1038fs)
NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)
NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs) rs1594773586
NM_001355436.2(SPTB):c.3829C>T (p.Gln1277Ter)
NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter) rs763084936
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
NM_001355436.2(SPTB):c.4473+1G>A
NM_001355436.2(SPTB):c.474+1G>A
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)
NM_001355436.2(SPTB):c.4843-1G>C
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.5178+1G>A
NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter) rs1480466529
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) rs200386310
NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile) rs1345709572
NM_001355436.2(SPTB):c.6175G>C (p.Ala2059Pro)
NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs) rs1555366592
NM_001355436.2(SPTB):c.647+1G>A
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile) rs1557229736
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys) rs2148328604
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) rs2070346788
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) rs72554665
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
NM_001360016.2(G6PD):c.1438A>T (p.Ile480Phe)
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.1457+7_1458-43del
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) rs2070404146
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
NM_001360016.2(G6PD):c.235G>C (p.Asp79His) rs2148331875
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser) rs886044847
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser) rs2148331380
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
NM_001360016.2(G6PD):c.430C>G (p.Pro144Ala)
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr)
NM_001360016.2(G6PD):c.485+184del
NM_001360016.2(G6PD):c.486-17C>T
NM_001360016.2(G6PD):c.486-17del
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
NM_001360016.2(G6PD):c.49C>T (p.Arg17Trp)
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp) rs2148330566
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
NM_001360016.2(G6PD):c.691G>A (p.Ala231Thr)
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
NM_001360016.2(G6PD):c.735_741del (p.Arg246fs)
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
NM_001360016.2(G6PD):c.848A>T (p.Asp283Val) rs1557230040
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
NM_001360016.2(G6PD):c.864+43G>A
NM_001360016.2(G6PD):c.864+44del
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
NM_001360016.2(G6PD):c.946G>A (p.Gly316Ser)
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
NM_001360016.2(G6PD):c.962G>T (p.Gly321Val)
NM_001360016.2(G6PD):c.982G>A (p.Val328Met)
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
NM_001360016.2(G6PD):c.[143T>C;202G>A]
NM_001360016.2(G6PD):c.[143T>C;563C>T]
NM_001360016.2(G6PD):c.[202G>A;871G>A]
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
NM_001360016.2(G6PD):c.[376A>G;463C>G]
NM_001360016.2(G6PD):c.[376A>G;680G>T]
NM_001360016.2(G6PD):c.[376A>G;871G>A]
NM_001360016.2(G6PD):c.[769C>A;770G>T]
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001364905.1(LRBA):c.1924+2T>A rs1730552437
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_001364905.1(LRBA):c.216+1G>C
NM_001364905.1(LRBA):c.2166-1G>C rs2127009232
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
NM_001364905.1(LRBA):c.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.3985_3986del (p.Asp1329fs)
NM_001364905.1(LRBA):c.4139C>G (p.Ser1380Ter)
NM_001364905.1(LRBA):c.4158+1G>C
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.4239del (p.Val1414fs) rs2126905499
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
NM_001364905.1(LRBA):c.4759_4762del (p.Thr1587fs)
NM_001364905.1(LRBA):c.476_549+580del
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
NM_001364905.1(LRBA):c.5518+2T>C rs532289025
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5629del (p.Val1878fs)
NM_001364905.1(LRBA):c.5645+1G>C
NM_001364905.1(LRBA):c.5755-1G>C
NM_001364905.1(LRBA):c.5921+1G>A
NM_001364905.1(LRBA):c.6194-2A>G
NM_001364905.1(LRBA):c.6331-2A>G rs2152104087
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.6551+1G>T
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.7363-1G>T
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs) rs1580974401
NM_001364905.1(LRBA):c.7850-1G>A rs1729842757
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001364905.1(LRBA):c.863del (p.His288fs) rs2149489382
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
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_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr) rs2146057214
NM_001375808.2(LPIN2):c.1451_1456+6del rs2077209051
NM_001375808.2(LPIN2):c.1871del (p.Thr624fs)
NM_001375808.2(LPIN2):c.1938+1G>A
NM_001375808.2(LPIN2):c.2086_2087+39del rs1598522408
NM_001375808.2(LPIN2):c.2442+3_2442+6del rs2144115996
NM_001375808.2(LPIN2):c.2443-2A>G rs2144112758
NM_001375808.2(LPIN2):c.288+2T>G rs2143137428
NM_001375808.2(LPIN2):c.289-1G>T
NM_001375808.2(LPIN2):c.698+1G>A rs1449758984
NM_001375808.2(LPIN2):c.699-1G>T
NM_001375808.2(LPIN2):c.699-2A>G
NM_001375808.2(LPIN2):c.822+2T>G rs2144204081
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494
NM_001376013.1(EPB41):c.1175del (p.Lys392fs) rs2150273700
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs) rs2150754040
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter) rs2151005632
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter) rs1160118901
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile) rs376762177
NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro) rs570058270
NM_001378743.1(CYLD):c.2040dup (p.Asp681fs) rs1597073318
NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter) rs1603113792
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_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) rs1725580386
NM_001386140.1(MTTP):c.1072C>T (p.Gln358Ter)
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) rs1725671165
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) rs1486643983
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) rs1725702758
NM_001386140.1(MTTP):c.1344+2T>A
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) rs1725826321
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
NM_001386140.1(MTTP):c.1558-2A>G rs1553927840
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) rs1725886004
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) rs1725953201
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) rs1725996321
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) rs1726001209
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) rs1726166189
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) rs777548973
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) rs1725178752
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
NM_001386140.1(MTTP):c.502-2A>G rs1725410386
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) rs1725413862
NM_001386140.1(MTTP):c.61+2T>C
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) rs1283854712
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) rs1725516307
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln) rs1595889508
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys) rs1603415028
NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)
NM_001664.4(RHOA):c.125A>C (p.Tyr42Ser) rs1057519954
NM_001664.4(RHOA):c.125A>G (p.Tyr42Cys) rs1057519954
NM_001664.4(RHOA):c.125A>T (p.Tyr42Phe) rs1057519954
NM_001664.4(RHOA):c.13C>T (p.Arg5Trp) rs1057519952
NM_001664.4(RHOA):c.14G>A (p.Arg5Gln) rs1057519953
NM_001664.4(RHOA):c.14G>T (p.Arg5Leu) rs1057519953
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.5(RUNX1):c.1014_1033del (p.Leu339fs)
NM_001754.5(RUNX1):c.1035_1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) rs2056458051
NM_001754.5(RUNX1):c.1110del (p.Met371fs)
NM_001754.5(RUNX1):c.1118C>A (p.Ser373Ter)
NM_001754.5(RUNX1):c.1142_1145dup (p.Pro383fs) rs2145876252
NM_001754.5(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.5(RUNX1):c.1164del (p.Ser389fs) rs1601333051
NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.5(RUNX1):c.1203del (p.Ser402fs)
NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)
NM_001754.5(RUNX1):c.1210del (p.His404fs)
NM_001754.5(RUNX1):c.1214_1217dup (p.Tyr407fs) rs2056453893
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs) rs2056453972
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.1221C>A (p.Tyr407Ter)
NM_001754.5(RUNX1):c.1221C>G (p.Tyr407Ter) rs914897271
NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.5(RUNX1):c.1233_1236dup (p.Ser413fs)
NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter) rs2056452818
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly) rs2056452215
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
NM_001754.5(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.1271_1272insTCTC (p.Pro425fs)
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs) rs2056451263
NM_001754.5(RUNX1):c.1277dup (p.Arg427fs)
NM_001754.5(RUNX1):c.1283dup (p.Leu429fs) rs1555884845
NM_001754.5(RUNX1):c.1295dup (p.Cys432fs)
NM_001754.5(RUNX1):c.1345C>T (p.Gln449Ter)
NM_001754.5(RUNX1):c.1363del (p.Ala455fs)
NM_001754.5(RUNX1):c.1412_1413del (p.Arg471fs) rs1555884790
NM_001754.5(RUNX1):c.1417G>T (p.Glu473Ter)
NM_001754.5(RUNX1):c.1432_1433del (p.Arg478fs)
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.268del (p.Val90fs) rs2146409966
NM_001754.5(RUNX1):c.280A>C (p.Ser94Arg) rs1057523598
NM_001754.5(RUNX1):c.281G>C (p.Ser94Thr)
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.5(RUNX1):c.315C>A (p.His105Gln) rs1601528621
NM_001754.5(RUNX1):c.316T>A (p.Trp106Arg) rs1555899735
NM_001754.5(RUNX1):c.316T>C (p.Trp106Arg) rs1555899735
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys) rs2057998063
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.351+2T>C
NM_001754.5(RUNX1):c.356dup (p.Ala120fs)
NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)
NM_001754.5(RUNX1):c.389T>A (p.Val130Asp) rs2146363217
NM_001754.5(RUNX1):c.401C>T (p.Ala134Val) rs2146362916
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser) rs1186716957
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu) rs267607026
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile) rs2057883934
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.508+1G>T rs1601515718
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.508_508+10del
NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs) rs2146235138
NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn) rs1601470652
NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn) rs1569061799
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) rs2057541324
NM_001754.5(RUNX1):c.592G>A (p.Asp198Asn)
NM_001754.5(RUNX1):c.592G>T (p.Asp198Tyr)
NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala) rs1569061786
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu) rs2057541040
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.613+1G>A
NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter) rs1601416036
NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.5(RUNX1):c.735del (p.Thr246fs) rs2146075448
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
NM_001754.5(RUNX1):c.784C>T (p.Gln262Ter) rs1601415426
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
NM_001754.5(RUNX1):c.805+1G>T rs2146074371
NM_001754.5(RUNX1):c.806-1G>A
NM_001754.5(RUNX1):c.813del (p.Arg271fs) rs2145910106
NM_001754.5(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.844_856del (p.Asp282fs) rs2056577059
NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.957_958insG (p.Arg320fs) rs2145907149
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
NM_001754.5(RUNX1):c.965del (p.Leu321_Ser322insTer) rs2145906988
NM_001754.5(RUNX1):c.968-10C>A rs1476636108
NM_001754.5(RUNX1):c.968del (p.Thr323fs)
NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)
NM_001754.5(RUNX1):c.98-2A>G
NM_001754.5(RUNX1):c.999dup (p.Arg334fs) rs2145878129
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_001783.4(CD79A):c.379+1G>A rs1555843601
NM_001783.4(CD79A):c.499-1G>A
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_001791.4(CDC42):c.242G>T (p.Cys81Phe) rs1553196100
NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001805.4(CEBPE):c.653T>C (p.Val218Ala) rs747524697
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.360_362dup (p.Thr121dup)
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) rs2035616857
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) rs2145144144
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) rs137854447
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro) rs762470485
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
NM_001972.4(ELANE):c.367-1G>A
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro) rs2145148405
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)
NM_001972.4(ELANE):c.570G>A (p.Val190=)
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
NM_001972.4(ELANE):c.583del (p.Ala195fs)
NM_001972.4(ELANE):c.598-3C>G rs730880095
NM_001972.4(ELANE):c.602del (p.Asp201fs) rs2035673569
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) rs137854446
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly) rs2145149526
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) rs1555710089
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter) rs2035675760
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
NM_001972.4(ELANE):c.731_732del (p.Ser244fs)
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.33+1G>A
NM_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
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.170_173dup (p.Ala59fs)
NM_002049.4(GATA1):c.220+1G>A rs1569499366
NM_002049.4(GATA1):c.220+1G>C rs1569499366
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
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_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002185.5(IL7R):c.205C>G (p.Leu69Val) rs1580851879
NM_002185.5(IL7R):c.553A>T (p.Ser185Cys) rs1057519759
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002227.4(JAK1):c.1937C>T (p.Ser646Phe) rs151047872
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe) rs1655079234
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_002296.4(LBR):c.235C>T (p.Arg79Ter)
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr) rs1575446356
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.781-2A>T
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002454.3(MTRR):c.973_1146+462del
NM_002467.6(MYC):c.173C>T (p.Pro58Leu) rs1057519918
NM_002467.6(MYC):c.217A>C (p.Thr73Pro) rs750664148
NM_002467.6(MYC):c.218C>T (p.Thr73Ile) rs756091827
NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn) rs1603483388
NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)
NM_002473.6(MYH9):c.130G>C (p.Ala44Pro)
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.2785G>T (p.Glu929Ter)
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.364A>G (p.Asn122Asp)
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.4302del (p.Ser1435fs)
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.5793_5797dup (p.Arg1933fs)
NM_002473.6(MYH9):c.5796_5797dup (p.Arg1933fs)
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_002485.5(NBN):c.1000A>T (p.Lys334Ter)
NM_002485.5(NBN):c.1029del (p.Gln344fs)
NM_002485.5(NBN):c.1029dup (p.Gln344fs) rs1563539146
NM_002485.5(NBN):c.1104dup (p.Ser369fs)
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1146del (p.Glu383fs) rs1586059584
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter) rs772909239
NM_002485.5(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.5(NBN):c.11_12del (p.Leu4fs)
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
NM_002485.5(NBN):c.1225del (p.Thr409fs) rs2129720423
NM_002485.5(NBN):c.1225dup (p.Thr409fs)
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer) rs2129720196
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
NM_002485.5(NBN):c.1295C>G (p.Ser432Ter)
NM_002485.5(NBN):c.1298del (p.Pro433fs)
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter) rs1554559094
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)
NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1G>A
NM_002485.5(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.5(NBN):c.1397+1dup
NM_002485.5(NBN):c.1397+2T>A rs730881850
NM_002485.5(NBN):c.1398-1G>A
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.1402dup (p.Arg468fs)
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter) rs772411713
NM_002485.5(NBN):c.14_23del (p.Leu5fs) rs2129938178
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1518del (p.Gln506fs)
NM_002485.5(NBN):c.1523dup (p.Ser509fs) rs1586054199
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) rs1554558449
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer) rs1563526747
NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1651del (p.Arg551fs)
NM_002485.5(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.5(NBN):c.1675_1682del (p.Glu559fs)
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.172-1del
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs) rs1586052851
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1826del (p.Pro609fs)
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter) rs1554558199
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter) rs1810267412
NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs) rs1036111786
NM_002485.5(NBN):c.2051del (p.Asn684fs) rs1586040200
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2071del rs2130756322
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.215del (p.Ser72fs)
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)
NM_002485.5(NBN):c.2167del (p.Trp722_Leu723insTer)
NM_002485.5(NBN):c.217A>T (p.Lys73Ter) rs2129915767
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2235-1G>C
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
NM_002485.5(NBN):c.241del (p.Glu81fs)
NM_002485.5(NBN):c.278C>A (p.Ser93Ter) rs12721593
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.359T>G (p.Leu120Ter) rs1563579387
NM_002485.5(NBN):c.360_363dup (p.Val122fs)
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.40G>T (p.Glu14Ter)
NM_002485.5(NBN):c.414del (p.Phe138fs)
NM_002485.5(NBN):c.429G>A (p.Trp143Ter) rs1812023981
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.5(NBN):c.480+1G>A
NM_002485.5(NBN):c.4del (p.Trp2fs) rs1275657359
NM_002485.5(NBN):c.565C>T (p.Gln189Ter) rs1198614767
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) rs1554566610
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.702+2T>C rs1811497703
NM_002485.5(NBN):c.742dup (p.Glu248fs)
NM_002485.5(NBN):c.782del (p.Asn261fs)
NM_002485.5(NBN):c.794dup (p.Pro266fs)
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.896+1G>A rs778306619
NM_002485.5(NBN):c.896+2T>C rs754659423
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.962del (p.Asn321fs) rs1586075907
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer) rs1811144443
NM_002485.5(NBN):c.994+1G>A rs1554562083
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.995-23_998inv
NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
NM_002641.4(PIGA):c.1188+1G>C
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002661.5(PLCG2):c.1993C>T (p.Arg665Trp) rs1057519831
NM_002661.5(PLCG2):c.2535A>C (p.Leu845Phe) rs1057519832
NM_002661.5(PLCG2):c.2535A>T (p.Leu845Phe) rs1057519832
NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr) rs1057519909
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) rs869025608
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629
NM_002875.5(RAD51):c.871ATC[1] (p.Ile292del)
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter) rs1594966387
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu) rs1704930969
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn) rs1588299621
NM_003120.3(SPI1):c.573G>A (p.Trp191Ter)
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003120.3(SPI1):c.689G>C (p.Arg230Pro)
NM_003120.3(SPI1):c.722T>G (p.Val241Gly) rs2095906404
NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro)
NM_003126.4(SPTA1):c.2167C>T (p.Gln723Ter)
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) rs2022057
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=) rs1553232007
NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter) rs1571436535
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter) rs1651716612
NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp) rs377659326
NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)
NM_003126.4(SPTA1):c.5581del (p.His1861fs)
NM_003126.4(SPTA1):c.6331del (p.Ala2111fs)
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6600+5G>T rs1462060431
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys) rs1057520009
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala) rs1057520010
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val) rs1057520010
NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter) rs104893626
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) rs730880320
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs) rs1573613529
NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs) rs1592123162
NM_003482.4(KMT2D):c.11897_11911del (p.Phe3966_Gln3971delinsTer) rs1592119138
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys) rs1581495906
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln) rs764264135
NM_003579.4(RAD54L):c.267T>G (p.Tyr89Ter)
NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter) rs312262697
NM_003647.3(DGKE):c.1A>T (p.Met1Leu) rs1906465563
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.3(DGKE):c.472dup (p.Trp158fs) rs312262698
NM_003647.3(DGKE):c.486dup (p.Val163fs) rs312262699
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys) rs749415630
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
NM_003664.5(AP3B1):c.129-1G>A
NM_003664.5(AP3B1):c.1364-2A>G rs2112357253
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
NM_003664.5(AP3B1):c.1474-2A>G
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
NM_003664.5(AP3B1):c.1651-1G>A
NM_003664.5(AP3B1):c.1651-2A>T
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
NM_003664.5(AP3B1):c.1837+2T>C rs2112300864
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.280-2A>G
NM_003664.5(AP3B1):c.2894+1G>T
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.395G>C (p.Arg132Pro)
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
NM_003664.5(AP3B1):c.786+1G>A
NM_003664.5(AP3B1):c.942+1G>T
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_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.1753-1G>C
NM_003998.4(NFKB1):c.1753-1G>T
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2240del (p.Leu747fs)
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2671del (p.Ala891fs) rs1728635624
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4(NFKB1):c.927+2T>C
NM_003998.4(NFKB1):c.988G>A (p.Val330Met) rs2149192634
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del
NM_004048.4(B2M):c.1A>G (p.Met1Val) rs1023835002
NM_004048.4(B2M):c.1A>T (p.Met1Leu) rs1023835002
NM_004048.4(B2M):c.2T>C (p.Met1Thr) rs1057519879
NM_004048.4(B2M):c.2T>G (p.Met1Arg) rs1057519879
NM_004048.4(B2M):c.3G>A (p.Met1Ile) rs1057519877
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs) rs869312973
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) rs1208575764
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe) rs1057519763
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2506A>G (p.Ile836Val) rs1057519726
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.3(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) rs1602247047
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) rs771349728
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) rs121913351
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1574T>G (p.Leu525Arg) rs869025340
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser) rs121913361
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp) rs397507483
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) rs121913365
NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr) rs2145258173
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.334_336del (p.Pro112del)
NM_004364.5(CEBPA):c.426del (p.Arg142fs)
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro) rs1600021258
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) rs2145258824
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)
NM_004364.5(CEBPA):c.936G>A (p.Gln312=) rs1248876880
NM_004364.5(CEBPA):c.943C>A (p.Leu315Met) rs2145258835
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)
NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile) rs2145258726
NM_004456.5(EZH2):c.1922A>C (p.Glu641Ala) rs1057519894
NM_004456.5(EZH2):c.1922A>T (p.Glu641Val) rs1057519894
NM_004456.5(EZH2):c.1936T>A (p.Tyr646Asn) rs267601395
NM_004456.5(EZH2):c.1936T>C (p.Tyr646His) rs267601395
NM_004456.5(EZH2):c.1937A>C (p.Tyr646Ser) rs267601394
NM_004456.5(EZH2):c.1937A>T (p.Tyr646Phe) rs267601394
NM_004456.5(EZH2):c.2045C>G (p.Ala682Gly) rs1057519833
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) rs1829085768
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1359del (p.Ala454fs) rs1829066243
NM_004629.2(FANCG):c.1366del (p.His456fs) rs587778345
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter) rs2131053817
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
NM_004629.2(FANCG):c.1433+1G>A rs1829065047
NM_004629.2(FANCG):c.1434-1G>C
NM_004629.2(FANCG):c.1434-2A>C rs1829062071
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_004629.2(FANCG):c.1480+1G>A
NM_004629.2(FANCG):c.1481-1G>C rs2131053141
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004629.2(FANCG):c.1542_1545dup (p.Ala516fs)
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1636+1G>C
NM_004629.2(FANCG):c.1636+1_1636+5delinsA rs1829054259
NM_004629.2(FANCG):c.1637-1G>A
NM_004629.2(FANCG):c.1637-2A>G
NM_004629.2(FANCG):c.1637-2_1637-1insCTG rs2131051989
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1672_1673del (p.Leu558fs)
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) rs786204205
NM_004629.2(FANCG):c.176-1G>A rs2131059176
NM_004629.2(FANCG):c.176-6_190del
NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) rs1829129603
NM_004629.2(FANCG):c.272del (p.Asp91fs)
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
NM_004629.2(FANCG):c.307+1G>A
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
NM_004629.2(FANCG):c.355_356del (p.Arg119fs)
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
NM_004629.2(FANCG):c.510+1G>A
NM_004629.2(FANCG):c.511-1G>T
NM_004629.2(FANCG):c.511-3_511-2del rs1491369358
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
NM_004629.2(FANCG):c.601_602del (p.Gln201fs)
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.647-2_649del rs2131056701
NM_004629.2(FANCG):c.682del (p.Ala228fs)
NM_004629.2(FANCG):c.692del (p.Ser231fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
NM_004629.2(FANCG):c.722_734del (p.Pro241fs)
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004629.2(FANCG):c.777+1G>A rs1060501862
NM_004629.2(FANCG):c.778-1G>A rs767518932
NM_004629.2(FANCG):c.778-1G>C rs767518932
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
NM_004629.2(FANCG):c.84+1G>A
NM_004629.2(FANCG):c.842del (p.Pro281fs) rs2131055994
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.907del (p.Leu303fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
NM_004629.2(FANCG):c.924+1G>A rs1829091761
NM_004629.2(FANCG):c.925-1G>C
NM_004629.2(FANCG):c.925-1G>T
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.942C>A (p.Cys314Ter)
NM_004629.2(FANCG):c.981dup (p.Leu328fs) rs2131055463
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) rs1478603808
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys) rs1582867955
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu) rs368927897
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn) rs1057520016
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
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_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.371G>A (p.Gly124Asp)
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) rs1418268495
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln) rs745414252
NM_005050.4(ABCD4):c.1457-1G>C
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
NM_005050.4(ABCD4):c.719+2T>G rs2082518811
NM_005105.5(RBM8A):c.336_342+2del rs1648166006
NM_005141.5(FGB):c.490+1G>C rs111502670
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
NM_005142.3(CBLIF):c.370+1G>C
NM_005142.3(CBLIF):c.370+83_426del
NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) rs121913450
NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) rs121913452
NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) rs121913452
NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) rs121913452
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) rs1057519775
NM_005157.6(ABL1):c.1187A>G (p.His396Arg) rs121913454
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) rs387906517
NM_005157.6(ABL1):c.730A>G (p.Met244Val) rs121913456
NM_005157.6(ABL1):c.742C>G (p.Leu248Val) rs121913455
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) rs121913453
NM_005157.6(ABL1):c.756G>C (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.756G>T (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) rs121913460
NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) rs121913448
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) rs121913449
NM_005157.6(ABL1):c.847T>G (p.Phe283Val) rs1057519758
NM_005157.6(ABL1):c.895G>C (p.Val299Leu) rs1057519771
NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) rs1057519772
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) rs1057519773
NM_005157.6(ABL1):c.949T>G (p.Phe317Val) rs1057519773
NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) rs1057519774
NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) rs121913451
NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) rs121913451
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln) rs1949969239
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter) rs2141946068
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys) rs1579484570
NM_005245.4(FAT1):c.720G>A (p.Met240Ile) rs1579491104
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro) rs951047896
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
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.1513A>T (p.Ser505Cys) rs1057519752
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.391G>C (p.Gly131Arg)
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_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005475.3(SH2B3):c.1566dup (p.Glu523fs)
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.1057A>G (p.Lys353Glu) rs1554660090
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.1132G>C (p.Asp378His) rs199877522
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.1510dup (p.Leu504fs) rs1828669338
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.1634-1G>T
NM_005476.7(GNE):c.1643del (p.Gly548fs) rs2133007268
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.182_185del (p.Ile61fs)
NM_005476.7(GNE):c.1868del (p.Gly623fs)
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)
NM_005476.7(GNE):c.2056C>T (p.Gln686Ter)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2112_2117delinsAAATCCAGCTG (p.Ala705fs)
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.2130_2133del (p.Ser711fs)
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.496C>T (p.Gln166Ter)
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.503T>C (p.Leu168Pro)
NM_005476.7(GNE):c.571_572del (p.Ala192fs)
NM_005476.7(GNE):c.601_604dup (p.Arg202fs) rs886042120
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.917G>A (p.Arg306Gln) rs1455785164
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_005570.4(LMAN1):c.904A>T (p.Lys302Ter) rs183873209
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)
NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)
NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)
NM_006060.6(IKZF1):c.499C>T (p.His167Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.314del (p.Pro105fs)
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.53+1G>A
NM_006118.4(HAX1):c.54-2A>T rs764765550
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C rs1684901295
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C rs1684904805
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
NM_006118.4(HAX1):c.607dup (p.Gln203fs)
NM_006118.4(HAX1):c.664-1G>T rs2149140690
NM_006118.4(HAX1):c.81_83delinsT (p.Met27fs)
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) rs587778601
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala) rs1057519941
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly) rs1057519941
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter) rs758626942
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr) rs1593107841
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1109+1G>C
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
NM_006363.6(SEC23B):c.1233_1233+1dup
NM_006363.6(SEC23B):c.1314+1G>A
NM_006363.6(SEC23B):c.1314_1314+10del
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
NM_006363.6(SEC23B):c.1905+1G>A
NM_006363.6(SEC23B):c.221+1G>A
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
NM_006363.6(SEC23B):c.279+1G>A
NM_006363.6(SEC23B):c.366+1G>A
NM_006363.6(SEC23B):c.367-1G>T
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
NM_006494.4(ERF):c.228G>A (p.Met76Ile) rs1599824091
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.680-12C>A
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter) rs2145927881
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs) rs2052291685
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs) rs2052320698
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_006758.3(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro) rs1057519959
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.209+1G>A rs1752708600
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
NM_006846.4(SPINK5):c.238dup (p.Ala80fs) rs752179828
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006979.3(SLC39A7):c.868C>T (p.Arg290Ter)
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_007194.4(CHEK2):c.1095+2T>G rs1569115687
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_012092.4(ICOS):c.136_139del (p.Asp46fs)
NM_012092.4(ICOS):c.394+2T>C rs1559035937
NM_012092.4(ICOS):c.58+1G>A rs757598952
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.312+1G>T
NM_012388.4(BLOC1S6):c.313-1G>A
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.82+1G>A
NM_012388.4(BLOC1S6):c.82+1G>T
NM_012388.4(BLOC1S6):c.82+1_82+8del
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys) rs775623976
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His) rs1057519961
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) rs756955033
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_013275.6(ANKRD11):c.6349_6362del (p.Pro2117fs) rs2151736830
NM_013314.4(BLNK):c.113+2T>G rs2134092983
NM_013314.4(BLNK):c.145C>T (p.Arg49Ter)
NM_013314.4(BLNK):c.746+1G>A rs2083906060
NM_013314.4(BLNK):c.747-2A>G
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) rs1694866812
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter) rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter) rs2043042281
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_014953.5(DIS3):c.2335A>T (p.Ile779Phe) rs1593835248
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.6514C>T (p.Arg2172Cys)
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_015338.6(ASXL1):c.2036dup (p.Gly680fs) rs1600586587
NM_015338.6(ASXL1):c.2068_2069del (p.Asp690fs)
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs) rs1909527513
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) rs1600394490
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-2A>G rs202000595
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) rs2149323564
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.366T>A (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) rs1553162857
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter) rs1643667928
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
NM_015506.3(MMACHC):c.430-1G>A
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs) rs2149323799
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
NM_015506.3(MMACHC):c.455_457del (p.Pro152del)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs) rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) rs1553162931
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015506.3(MMACHC):c.81+1G>C
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_015506.3:c.275_278del
NM_015559.3(SETBP1):c.1703G>T (p.Ser568Ile) rs1599367044
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.157_191del (p.Ser53fs)
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
NM_015702.3(MMADHC):c.268C>T (p.Gln90Ter)
NM_015702.3(MMADHC):c.369dup (p.Gln124fs)
NM_015702.3(MMADHC):c.372+1G>T rs755561981
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.373-2A>G
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.479-2A>G
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
NM_015702.3(MMADHC):c.610-1G>A
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
NM_015702.3(MMADHC):c.9+1G>A
NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)
NM_016038.4(SBDS):c.115dup (p.Trp39fs)
NM_016038.4(SBDS):c.128+1G>A
NM_016038.4(SBDS):c.129-2A>C
NM_016038.4(SBDS):c.129-71_140del
NM_016038.4(SBDS):c.164C>G (p.Ser55Ter)
NM_016038.4(SBDS):c.171dup (p.Val58fs)
NM_016038.4(SBDS):c.259-2A>C
NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) rs1411636529
NM_016038.4(SBDS):c.523del (p.Arg175fs)
NM_016038.4(SBDS):c.624+1G>A
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) rs757497272
NM_016038.4(SBDS):c.95A>G (p.Tyr32Cys) rs1131691842
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
NM_016123.4(IRAK4):c.161+1G>A
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile) rs1575079076
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)
NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)
NM_016734.3(PAX5):c.134_147del (p.Ala45fs)
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_016734.3(PAX5):c.263dup (p.Val90fs)
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)
NM_016734.3(PAX5):c.46+1G>A
NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)
NM_016734.3(PAX5):c.77T>G (p.Val26Gly)
NM_016734.3(PAX5):c.963del (p.Ala322fs) rs780753361
NM_016734.3(PAX5):c.963dup (p.Ala322fs)
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)
NM_017612.5(ZCCHC8):c.196G>A (p.Glu66Lys)
NM_017612.5(ZCCHC8):c.508G>C (p.Gly170Arg)
NM_017612.5(ZCCHC8):c.551G>A (p.Gly184Glu)
NM_017654.4(SAMD9):c.4532T>C (p.Leu1511Ser)
NM_017875.4(SLC25A38):c.275C>G (p.Pro92Arg)
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) rs1575247302
NM_017875.4(SLC25A38):c.793-1G>C
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)
NM_018062.4(FANCL):c.1021-2A>G
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) rs1553433429
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.1064dup (p.Phe356fs)
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
NM_018062.4(FANCL):c.1092+1G>C
NM_018062.4(FANCL):c.1092+1G>T
NM_018062.4(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
NM_018062.4(FANCL):c.1A>G (p.Met1Val) rs772037896
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.328_335dup (p.Leu114fs)
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.442del (p.His148fs)
NM_018062.4(FANCL):c.471+1G>A
NM_018062.4(FANCL):c.471+2T>C
NM_018062.4(FANCL):c.541-2A>C
NM_018062.4(FANCL):c.590del (p.Leu197fs)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
NM_018062.4(FANCL):c.691+2_691+5del
NM_018062.4(FANCL):c.70del (p.Val24fs)
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
NM_018062.4(FANCL):c.738dup (p.Met247fs)
NM_018062.4(FANCL):c.739dup (p.Met247fs) rs1573518300
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.775+2T>C
NM_018062.4(FANCL):c.821+1G>A
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
NM_018062.4(FANCL):c.903+1G>T
NM_018062.4(FANCL):c.903+1_903+2del
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.904-1G>A rs2104783888
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.96+2T>A
NM_018062.4(FANCL):c.96+2T>C
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1189-1G>A rs2149843526
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs) rs764930914
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.399del (p.Lys133fs) rs1562112648
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) rs2134598287
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_018947.6(CYCS):c.79C>T (p.His27Tyr) rs1783403912
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.145G>C (p.Gly49Arg) rs376384665
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.154dup (p.Glu52fs)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.196C>T (p.Arg66Trp)
NM_019616.4(F7):c.220A>G (p.Arg74Gly) rs2142212748
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.64G>A (p.Val22Ile)
NM_019616.4(F7):c.737T>C (p.Leu246Pro) rs2142229513
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255
NM_019616.4(F7):c.80del (p.Glu27fs)
NM_019616.4(F7):c.857T>C (p.Leu286Pro) rs2142232799
NM_019616.4(F7):c.86C>A (p.Ala29Asp) rs2036074360
NM_019616.4(F7):c.871del (p.Val291fs) rs2142232898
NM_019616.4(F7):c.895C>T (p.Leu299Phe)
NM_019616.4(F7):c.974del (p.Leu325fs)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]
NM_020207.7(ERCC6L2):c.1682_1683del (p.Glu561fs) rs2132792543
NM_020207.7(ERCC6L2):c.1948-1G>A
NM_020207.7(ERCC6L2):c.2474_2484delinsAAAG (p.Thr825fs) rs2133079257
NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)
NM_020207.7(ERCC6L2):c.3492+2T>G rs1588013817
NM_020207.7:c.[2156delG];[3300_3303delTCAA]
NM_020207.7:c.[3409_3410delAT];[3763C>T]
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_020661.4(AICDA):c.22del (p.Arg8fs)
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.332C>A (p.Ala111Glu)
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.417G>T (p.Met139Ile) rs1591744217
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.8+1G>C
NM_020937.4(FANCM):c.1051-2A>T rs1886997142
NM_020937.4(FANCM):c.1397-1_1407del
NM_020937.4(FANCM):c.1581+1G>A rs373430198
NM_020937.4(FANCM):c.2316+2T>A rs2139235421
NM_020937.4(FANCM):c.4318-2A>G
NM_020937.4(FANCM):c.4386+1G>A rs1889085249
NM_020937.4(FANCM):c.4477del (p.Arg1493fs) rs1889219103
NM_020937.4(FANCM):c.4673-1G>A
NM_020937.4(FANCM):c.4673-2A>C rs2139291763
NM_020937.4(FANCM):c.4780-2A>G rs1889569618
NM_020937.4(FANCM):c.5340+2T>C
NM_020937.4(FANCM):c.682-2A>G rs1885847871
NM_020937.4(FANCM):c.759+2T>C rs902753970
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1006A>T (p.Met336Leu)
NM_021870.3(FGG):c.1030G>C (p.Asp344His)
NM_021870.3(FGG):c.1037A>G (p.Asp346Gly)
NM_021870.3(FGG):c.1067A>G (p.Asp356Gly)
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile) rs1731071910
NM_021870.3(FGG):c.1242del (p.Phe415fs)
NM_021871.4(FGA):c.103C>G (p.Arg35Gly) rs121909606
NM_021871.4(FGA):c.1055del (p.Pro352fs) rs1299596156
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
NM_021871.4(FGA):c.1517del (p.Leu506fs)
NM_021871.4(FGA):c.1754del (p.Ser585fs)
NM_021871.4(FGA):c.431_432del (p.Lys144fs) rs934668242
NM_021871.4(FGA):c.473dup (p.Asn158fs)
NM_021871.4(FGA):c.541C>T (p.Arg181Ter)
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+1G>A rs2150895088
NM_021922.3(FANCE):c.1113+2T>A
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1238-2A>C
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.1300C>T (p.Gln434Ter)
NM_021922.3(FANCE):c.1317-1G>A
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.1383+2T>C
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.248+1G>C
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.248+2T>C rs1581696699
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) rs755938406
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG rs2150889955
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.505del (p.Arg169fs)
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.635del (p.Glu212fs)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.836del (p.Glu279fs)
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
NM_021922.3(FANCE):c.929del (p.Pro310fs) rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.969+1G>A
NM_021922.3(FANCE):c.988C>T (p.Gln330Ter)
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs) rs773968140
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1156del (p.His386fs)
NM_022081.6(HPS4):c.132+1G>A
NM_022081.6(HPS4):c.132+1dup
NM_022081.6(HPS4):c.133-1G>A
NM_022081.6(HPS4):c.133-2A>G
NM_022081.6(HPS4):c.133-2A>T
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)
NM_022081.6(HPS4):c.1361_1362del (p.Pro454fs)
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1713+1G>A rs2146534178
NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs)
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs) rs752827715
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)
NM_022081.6(HPS4):c.276+5G>A rs1602079277
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)
NM_022081.6(HPS4):c.32C>G (p.Ser11Ter)
NM_022081.6(HPS4):c.348dup (p.Asn117Ter)
NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)
NM_022081.6(HPS4):c.41+1_41+3del
NM_022081.6(HPS4):c.412del (p.Glu138fs)
NM_022081.6(HPS4):c.42-2A>C
NM_022081.6(HPS4):c.42-2A>G
NM_022081.6(HPS4):c.446del (p.Asn149fs)
NM_022081.6(HPS4):c.44G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.502-1G>A rs2146757484
NM_022081.6(HPS4):c.502-2A>T
NM_022081.6(HPS4):c.669+1G>A
NM_022081.6(HPS4):c.673_686del
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)
NM_022081.6(HPS4):c.803+1G>A
NM_022081.6(HPS4):c.834_865del (p.Asp278fs)
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)
NM_022081.6(HPS4):c.90_91insCCTT (p.Asp31delinsProTer)
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs) rs1573338559
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr) rs1313738991
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser) rs745380962
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.167del (p.Thr56fs)
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_022725.4(FANCF):c.1A>C (p.Met1Leu) rs1046564488
NM_022725.4(FANCF):c.1A>T (p.Met1Leu) rs1046564488
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
NM_022725.4(FANCF):c.235G>T (p.Gly79Ter)
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.307dup (p.Leu103fs)
NM_022725.4(FANCF):c.379G>T (p.Glu127Ter)
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.434del (p.Met145fs)
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
NM_022725.4(FANCF):c.641dup (p.Leu214fs)
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.736del (p.Glu246fs)
NM_022725.4(FANCF):c.774_780del (p.Leu259_Leu260insTer)
NM_022725.4(FANCF):c.78G>A (p.Trp26Ter)
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
NM_022725.4(FANCF):c.817_820del (p.Val273fs) rs1858619779
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_022788.5(P2RY12):c.469_470del (p.Leu157fs)
NM_022788.5(P2RY12):c.662dup (p.Arg222fs)
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897
NM_024420.3(PLA2G4A):c.607del (p.Val203fs)
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer) rs1555498120
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) rs1597049287
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_024598.4(USB1):c.63del (p.Met22fs) rs747958554
NM_024665.7(TBL1XR1):c.1192A>T (p.Lys398Ter)
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys) rs878854402
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) rs1833331932
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2800_2801dup (p.Val934_Ala935insTer)
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2835-2A>G
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.732_733dup (p.Ala245fs)
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)
NM_024747.6(HPS6):c.1228_1252del (p.Tyr410fs) rs760452661
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
NM_024747.6(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.6(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) rs940319528
NM_024747.6(HPS6):c.1789del (p.Ala597fs)
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
NM_024747.6(HPS6):c.19_20del (p.Leu7fs) rs1590262288
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs) rs2136333791
NM_024747.6(HPS6):c.229_232del (p.Ser77fs) rs2136333814
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) rs2067964057
NM_024747.6(HPS6):c.368del (p.Gly123fs)
NM_024747.6(HPS6):c.452del (p.Pro151fs)
NM_024747.6(HPS6):c.706_707del (p.Ser236fs) rs756471925
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter) rs2136334244
NM_024747.6(HPS6):c.877C>T (p.Gln293Ter)
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
NM_025215.6(PUS1):c.1156dup (p.Ser386fs)
NM_025215.6(PUS1):c.1237-2A>G
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
NM_025215.6(PUS1):c.178del (p.Glu60fs)
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
NM_025215.6(PUS1):c.442-1G>T
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.462_463dup (p.Val155fs)
NM_025215.6(PUS1):c.482G>A (p.Trp161Ter) rs754855677
NM_025215.6(PUS1):c.517del (p.His173fs)
NM_025215.6(PUS1):c.545-1G>A
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
NM_025215.6(PUS1):c.929del (p.Pro310fs)
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_030943.4(AMN):c.1006+16_1006+30del rs386834160
NM_030943.4(AMN):c.1006+34_1007-31del rs386834161
NM_030943.4(AMN):c.1006+36_1007-29del rs386834162
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.4(AMN):c.1169+2T>C
NM_030943.4(AMN):c.1170-1G>C
NM_030943.4(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.207+1G>A
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_030943.4(AMN):c.295+1del rs386834171
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.43+1G>T rs386834172
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.44-2A>T
NM_030943.4(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.4(AMN):c.513+2T>C
NM_030943.4(AMN):c.513+2del
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.651+1G>T
NM_030943.4(AMN):c.652-2A>G
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.4(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_030943.4(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.4(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.786+1G>T
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
NM_032043.3(BRIP1):c.1141-2A>C
NM_032043.3(BRIP1):c.1141-2A>T rs769583916
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1341-1G>C
NM_032043.3(BRIP1):c.1341-2A>C
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1473+1G>C rs748274524
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.1474-13_1475del rs1555603635
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
NM_032043.3(BRIP1):c.1629-17_1652del
NM_032043.3(BRIP1):c.1629-1G>A rs1060501757
NM_032043.3(BRIP1):c.1629-1G>C rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1794+2T>G
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1795-1G>C
NM_032043.3(BRIP1):c.1795-2del
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1935+1G>A
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-1G>C rs1555601204
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.205+2T>G rs1060501763
NM_032043.3(BRIP1):c.205+5G>A rs2078948368
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2097+1G>T rs786202941
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2257+1G>A rs2077029293
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-1G>C
NM_032043.3(BRIP1):c.2258-2A>G
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.3(BRIP1):c.2370_2379+20del rs2144674380
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2380-2A>C rs2144384449
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT rs2061856480
NM_032043.3(BRIP1):c.2429_2432dup (p.Pro812fs)
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2492+1G>T
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492+2T>C
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-2A>G rs1603280621
NM_032043.3(BRIP1):c.2493-3_2493-1del
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg) rs2061476512
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2576-1G>T rs587782539
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2714del (p.Asn905fs) rs2144114210
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs) rs2144092520
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter) rs1603275598
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs) rs2144091036
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs) rs2144091008
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs) rs2144090521
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs) rs2144090014
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs) rs2061318961
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter) rs770509300
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter) rs1555572681
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs) rs2144077998
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs) rs2061309076
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+1G>T rs1437158047
NM_032043.3(BRIP1):c.379+2T>C rs2145825816
NM_032043.3(BRIP1):c.380-1G>C rs2145767071
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507+2T>A
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-2A>C rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+2T>A rs2078745026
NM_032043.3(BRIP1):c.628-1G>A rs1219435870
NM_032043.3(BRIP1):c.628-2A>G rs995056553
NM_032043.3(BRIP1):c.628-2A>T rs995056553
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.73_93+14del rs2145863122
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.918+2790_1121del
NM_032043.3(BRIP1):c.919-1G>A
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2T>C rs775755739
NM_032043.3(BRIP1):c.93+2del
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_032043.3(BRIP1):c.94-1G>A
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter) rs2127784434
NM_032383.5(HPS3):c.1055del (p.Gly352fs)
NM_032383.5(HPS3):c.1058_1059del (p.Tyr353fs)
NM_032383.5(HPS3):c.1102C>T (p.Gln368Ter)
NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)
NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)
NM_032383.5(HPS3):c.1150_1153del (p.His384fs)
NM_032383.5(HPS3):c.1153_1160del (p.Val385fs)
NM_032383.5(HPS3):c.1154del (p.Val385fs)
NM_032383.5(HPS3):c.1175del (p.Gln392fs)
NM_032383.5(HPS3):c.1179T>A (p.Cys393Ter)
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1231dup (p.Asp411fs)
NM_032383.5(HPS3):c.1246-2A>T rs1282659169
NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs)
NM_032383.5(HPS3):c.1246dup
NM_032383.5(HPS3):c.1249del (p.Cys417fs)
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.1275T>A (p.Cys425Ter)
NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter) rs1330496818
NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)
NM_032383.5(HPS3):c.148G>T (p.Glu50Ter)
NM_032383.5(HPS3):c.1500C>A (p.Tyr500Ter)
NM_032383.5(HPS3):c.1509+1G>A rs746906314
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer) rs756611897
NM_032383.5(HPS3):c.157del (p.Gln53fs)
NM_032383.5(HPS3):c.1627G>T (p.Glu543Ter)
NM_032383.5(HPS3):c.1660del (p.Ser554fs)
NM_032383.5(HPS3):c.1678del (p.Asp560fs)
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) rs778152054
NM_032383.5(HPS3):c.1685_1686delinsT (p.Tyr562fs)
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter) rs1292407171
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) rs1576687466
NM_032383.5(HPS3):c.1814del (p.Gly605fs)
NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer) rs1363245838
NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs) rs749632423
NM_032383.5(HPS3):c.1873-1G>A
NM_032383.5(HPS3):c.2038A>T (p.Lys680Ter)
NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)
NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter)
NM_032383.5(HPS3):c.2086_2093del (p.Glu696fs)
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs) rs1032570128
NM_032383.5(HPS3):c.2106+1G>T
NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)
NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)
NM_032383.5(HPS3):c.217+2T>G rs1286892626
NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)
NM_032383.5(HPS3):c.2194dup (p.His732fs)
NM_032383.5(HPS3):c.219del (p.Asp74fs)
NM_032383.5(HPS3):c.2209C>T (p.Gln737Ter)
NM_032383.5(HPS3):c.2287_2289delinsA (p.Phe763fs)
NM_032383.5(HPS3):c.2289del (p.Phe763fs)
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs) rs868868714
NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs)
NM_032383.5(HPS3):c.2380del (p.Val794fs)
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) rs373037058
NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs)
NM_032383.5(HPS3):c.249_252del (p.Asn83fs) rs770108122
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter)
NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs)
NM_032383.5(HPS3):c.2525_2526del (p.His842fs)
NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs)
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter) rs2108173648
NM_032383.5(HPS3):c.2650del (p.Ser884fs)
NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter)
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
NM_032383.5(HPS3):c.2796+1del rs2108184819
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)
NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs)
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)
NM_032383.5(HPS3):c.2887+1G>A
NM_032383.5(HPS3):c.288_289del (p.Asn96fs)
NM_032383.5(HPS3):c.324dup (p.Ile109fs)
NM_032383.5(HPS3):c.325_328del (p.Ile109fs)
NM_032383.5(HPS3):c.356_357del (p.Lys119fs)
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter) rs1466073004
NM_032383.5(HPS3):c.371del (p.Gln124fs)
NM_032383.5(HPS3):c.403del (p.Ala135fs) rs748883997
NM_032383.5(HPS3):c.423T>A (p.Cys141Ter)
NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)
NM_032383.5(HPS3):c.502G>T (p.Glu168Ter)
NM_032383.5(HPS3):c.505delinsAAGCAT (p.Glu169fs)
NM_032383.5(HPS3):c.513_516del (p.Leu172fs)
NM_032383.5(HPS3):c.589dup (p.Tyr197fs)
NM_032383.5(HPS3):c.601_602insACTGTCTCTTATACACATC (p.Met201fs)
NM_032383.5(HPS3):c.617_618insTCAGCAG (p.Leu207fs)
NM_032383.5(HPS3):c.658dup (p.Arg220fs)
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)
NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)
NM_032383.5(HPS3):c.731C>A (p.Ser244Ter)
NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)
NM_032383.5(HPS3):c.791_792insC (p.Lys264fs)
NM_032383.5(HPS3):c.795_796del (p.Ser265fs)
NM_032383.5(HPS3):c.795_796delinsA (p.Ser265fs)
NM_032383.5(HPS3):c.809T>A (p.Leu270Ter)
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)
NM_032383.5(HPS3):c.84_109del (p.Arg30fs)
NM_032383.5(HPS3):c.855del (p.Lys285fs)
NM_032383.5(HPS3):c.869_870del (p.Gln290fs)
NM_032383.5(HPS3):c.87del (p.Arg30fs)
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_032383.5(HPS3):c.904dup (p.Ser302fs)
NM_032383.5(HPS3):c.931A>T (p.Lys311Ter)
NM_032383.5(HPS3):c.950_951del (p.Leu317fs)
NM_032383.5(HPS3):c.956_957del (p.Pro319fs)
NM_032383.5(HPS3):c.964del (p.Gln322fs)
NM_032383.5(HPS3):c.970+1G>A
NM_032383.5(HPS3):c.995dup (p.Asn332fs)
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs) rs2151133987
NM_032444.4(SLX4):c.1125del (p.Ala376fs) rs2151133964
NM_032444.4(SLX4):c.1163+1G>A
NM_032444.4(SLX4):c.1684-1G>A
NM_032444.4(SLX4):c.1684-2A>C
NM_032444.4(SLX4):c.2013+2T>C
NM_032444.4(SLX4):c.2161-2A>T rs2151127331
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter) rs1237224833
NM_032444.4(SLX4):c.4881del (p.Thr1628fs) rs1596515638
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs) rs1022072026
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs) rs2151115927
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_032444.4(SLX4):c.838G>T (p.Gly280Ter)
NM_032444.4(SLX4):c.951-1G>C
NM_032444.4(SLX4):c.951-1G>T rs750371433
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032638.5(GATA2):c.1017+513_1017+540del rs1553770655
NM_032638.5(GATA2):c.1018-1G>A rs869320668
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_032638.5(GATA2):c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla) rs2107668794
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1045T>G (p.Cys349Gly) rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) rs1576745256
NM_032638.5(GATA2):c.1046G>T (p.Cys349Phe) rs1576745256
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser) rs1576745252
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg) rs797045591
NM_032638.5(GATA2):c.1054T>G (p.Cys352Gly) rs797045591
NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe) rs2107668733
NM_032638.5(GATA2):c.1061C>G (p.Thr354Arg) rs387906631
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1066_1095del (p.Thr356_Asn365del) rs2107668655
NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala) rs2107668704
NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile) rs2107668699
NM_032638.5(GATA2):c.1076T>C (p.Leu359Ser) rs2107668687
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg) rs2107668680
NM_032638.5(GATA2):c.1079G>T (p.Trp360Leu) rs2107668679
NM_032638.5(GATA2):c.1080G>A (p.Trp360Ter)
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly) rs1426175410
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1084_1095del (p.Arg362_Asn365del) rs869320734
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1085G>C (p.Arg362Pro) rs867160952
NM_032638.5(GATA2):c.1110C>G (p.Cys370Trp) rs2107668638
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr) rs936826425
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1117_1131del (p.Cys373_Tyr377del) rs2107668588
NM_032638.5(GATA2):c.1118G>A (p.Cys373Tyr) rs2107668617
NM_032638.5(GATA2):c.1123C>G (p.Leu375Val) rs2107668602
NM_032638.5(GATA2):c.1123C>T (p.Leu375Phe) rs2107668602
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp) rs2107668593
NM_032638.5(GATA2):c.1143+5G>A rs2107668551
NM_032638.5(GATA2):c.1143+5G>C rs2107668551
NM_032638.5(GATA2):c.1154C>A (p.Pro385Gln) rs2107668121
NM_032638.5(GATA2):c.1162A>G (p.Met388Val) rs2107668104
NM_032638.5(GATA2):c.1163T>C (p.Met388Thr) rs2107668103
NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu) rs2107668094
NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu) rs1553770434
NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly)
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) rs1420609104
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819
NM_032638.5(GATA2):c.1341C>A (p.Ser447Arg) rs1338194519
NM_032638.5(GATA2):c.1341C>G (p.Ser447Arg)
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.871+1G>A
NM_032638.5(GATA2):c.872-1G>C rs2068663163
NM_032638.5(GATA2):c.944T>C (p.Leu315Pro) rs2107670416
NM_033022.4(RPS24):c.157del (p.Asp53fs) rs2131976643
NM_033022.4(RPS24):c.273del (p.Ala92fs)
NM_033022.4(RPS24):c.279+5G>T
NM_033084.6(FANCD2):c.2609_2613del
NM_033084.6(FANCD2):c.3107_3108del rs2125059924
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) rs2107265602
NM_052945.4(TNFRSF13C):c.154G>A (p.Ala52Thr)
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.1003_1004insTTCC (p.Cys335fs)
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1026+6T>A rs2144046795
NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter) rs1555605532
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs) rs1064792966
NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)
NM_058216.3(RAD51C):c.1080del (p.Gly361fs)
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG rs878855177
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val) rs267606998
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) rs767796996
NM_058216.3(RAD51C):c.405-1G>A rs587782036
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.405-2A>G rs2048020646
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571+2863A>G
NM_058216.3(RAD51C):c.571+2T>A rs1567789009
NM_058216.3(RAD51C):c.571+3013_590del
NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys) rs1598460983
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.705+1G>T rs876658644
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.838-2A>T rs748589398
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.894dup (p.Pro299fs) rs2048893092
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_058216.3(RAD51C):c.904+2T>C rs2143932427
NM_058216.3(RAD51C):c.904_904+11del
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly) rs730881932
NM_058216.3(RAD51C):c.946del (p.His316fs)
NM_058216.3(RAD51C):c.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.965+6T>A
NM_058216.3(RAD51C):c.990del (p.Ser331fs)
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) rs746646631
NM_080669.6(SLC46A1):c.1173_1174del (p.Ser393fs)
NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560
NM_080911.3(UNG):c.132+1G>A
NM_080911.3(UNG):c.133-2A>G
NM_080911.3(UNG):c.623-2A>G rs2042193330
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.4(G6PC3):c.325+2T>G
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) rs2144147052
NM_138387.4(G6PC3):c.416+1G>A
NM_138387.4(G6PC3):c.417-1G>A
NM_138387.4(G6PC3):c.536-2A>G
NM_138387.4(G6PC3):c.678-1G>T
NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) rs140334403
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp) rs138334226
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
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.3657C>A (p.Cys1219Ter)
NM_139027.6(ADAMTS13):c.3724+1G>A rs1554796161
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.725G>A (p.Cys242Tyr)
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter) rs2130769073
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile) rs2144773624
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu)
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_139276.3(STAT3):c.1552C>T (p.Arg518Ter)
NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp) rs2144697778
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_139276.3(STAT3):c.1861T>G (p.Phe621Val)
NM_139276.3(STAT3):c.1909G>T (p.Val637Leu)
NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu) rs2144683205
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg) rs2081520204
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_139276.3(STAT3):c.2114A>G (p.Tyr705Cys)
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser) rs2144622906
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val) rs1131691937
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser) rs1598381121
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) rs193922722
NM_139276.3(STAT3):c.2141C>A (p.Thr714Lys)
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys) rs1555566945
NM_139276.3(STAT3):c.861G>T (p.Leu287Phe) rs2144832509
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn) rs1598415635
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_139279.6(MCFD2):c.364G>A (p.Asp122Asn) rs1668185105
NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs) rs1484184249
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) rs386834056
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) rs386834063
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs) rs386834065
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys) rs386834067
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.1844-2A>G rs386834073
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.291+2T>A
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.292-7A>G rs1554612610
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
NM_152564.5(VPS13B):c.3445+2T>A
NM_152564.5(VPS13B):c.3446-1G>A
NM_152564.5(VPS13B):c.3446-382_3463del rs1588410519
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
NM_152564.5(VPS13B):c.412+1G>C rs1057517295
NM_152564.5(VPS13B):c.412+2T>C
NM_152564.5(VPS13B):c.4157+2T>G
NM_152564.5(VPS13B):c.4225-1G>A rs2133637043
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) rs386834085
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) rs386834087
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) rs386834089
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-2A>G
NM_152564.5(VPS13B):c.5076+1G>C
NM_152564.5(VPS13B):c.5076+1G>T
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) rs1829386213
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) rs1554884838
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) rs386834097
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) rs386834101
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) rs386834102
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) rs1811867338
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) rs386834108
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
NM_152564.5(VPS13B):c.762+1G>A
NM_152564.5(VPS13B):c.762+2T>C rs1588048848
NM_152564.5(VPS13B):c.763-1G>T
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) rs386834109
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) rs386834111
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) rs386834114
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8995-1G>A
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9183+1G>A rs2130822351
NM_152564.5(VPS13B):c.9183+2T>G
NM_152564.5(VPS13B):c.9184-1G>A
NM_152564.5(VPS13B):c.9184-2A>G
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9330+1G>A
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9615-2A>G rs386834120
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) rs386834121
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) rs386834122
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9743-2A>C rs1815345770
NM_152564.5(VPS13B):c.9743-5_9744del
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_152703.5(SAMD9L):c.2675T>G (p.Met892Arg)
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_152703.5(SAMD9L):c.303del (p.Asn103fs) rs2116506727
NM_152703.5(SAMD9L):c.4654T>A (p.Tyr1552Asn) rs2116467712
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro) rs1003155450
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu) rs1587941402
NM_172351.3(CD46):c.351C>G (p.Tyr117Ter)
NM_172351.3(CD46):c.559G>C (p.Val187Leu)
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.83del (p.Leu28fs)
NM_172351.3(CD46):c.857-1G>A
NM_172351.3(CD46):c.944-1G>C
NM_173842.3(IL1RN):c.46del (p.Leu16fs)
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) rs1603452612
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) rs779921624
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_181507.2(HPS5):c.2837+1G>A
NM_181507.2(HPS5):c.478-2A>G
NM_181507.2(HPS5):c.927_928del (p.Gly310fs)
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1300-5_1320del rs2112261986
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_181523.3(PIK3R1):c.1568+2T>C rs780724594
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
NM_181523.3(PIK3R1):c.916+2T>C
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.128_130del (p.Glu43del) rs876661297
NM_182916.3(TRNT1):c.342+1G>T
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) rs750995691
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu) rs917466219
NM_182972.3(IRF2BP2):c.1137G>A (p.Trp379Ter)
NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)
NM_182972.3(IRF2BP2):c.217_244del (p.Pro73fs)
NM_182972.3(IRF2BP2):c.314_324del (p.Glu105fs)
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro) rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.154del
NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
NM_183235.3(RAB27A):c.467+1G>T
NM_183235.3(RAB27A):c.475T>C (p.Tyr159His) rs1894614852
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_183235.3(RAB27A):c.509_510del (p.Ile170fs)
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_194454.3(KRIT1):c.990-1G>A rs1554518790
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1601A>G (p.His534Arg)
NM_198253.3(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.2131-2A>G
NM_198253.3(TERT):c.2426_2427del (p.Phe809fs)
NM_198253.3(TERT):c.2583-2A>T
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2665C>T (p.Arg889Ter)
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2991del (p.Cys998fs) rs1554038539
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.3033-2A>C
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NM_198253.3(TERT):c.345C>G (p.Phe115Leu) rs1579598699
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) rs1455074519
NM_201280.3(BLOC1S5):c.154del (p.Val52fs)
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)
NM_203447.4(DOCK8):c.1868+1G>A
NM_203447.4(DOCK8):c.2007+2T>G rs2131215770
NM_203447.4(DOCK8):c.2779-2A>C rs776399238
NM_203447.4(DOCK8):c.3530+1G>A rs1564025732
NM_203447.4(DOCK8):c.3670_3671insTCAAATTTTGG (p.Asp1224fs) rs2131602318
NM_203447.4(DOCK8):c.3841-1G>T rs1486452597
NM_203447.4(DOCK8):c.4024-2A>G
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
NM_203447.4(DOCK8):c.4626+1G>A
NM_203447.4(DOCK8):c.4626+76A>G
NM_203447.4(DOCK8):c.5223+1del rs2131795370
NM_203447.4(DOCK8):c.53+1G>A rs2046707580
NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)
NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)
NM_203447.4(DOCK8):c.5490+2T>C
NM_203447.4(DOCK8):c.560_561insAGCGA (p.Asp187fs) rs2130697082
NM_203447.4(DOCK8):c.741+2T>C
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) rs1554668061
NM_206965.2(FTCD):c.1068_1098+24del
NM_206965.2(FTCD):c.1261-1G>A
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NR_001566.3(TERC):n.301A>T
NR_001566.3(TERC):n.95G>C rs1777963668
Single allele
t(12;13)(p13.2;q12.2)
t(13;17)(q12.2;q11.2)
t(3;9)(q13.31;p24.1)

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