ClinVar Miner

List of variants reported as likely benign for hematologic disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1562
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.5419+12A>G rs6009 0.92435
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000130.5(F5):c.*1115C>T rs2040444 0.48344
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_032043.3(BRIP1):c.*2082_*2085del rs10601136 0.37829
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30714
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000130.5(F5):c.*1601C>T rs2187952 0.25334
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24147
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24140
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24133
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.24101
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NC_000012.12:g.32744623G>T rs11052213 0.15596
NC_000012.12:g.32744154A>T rs1971911 0.15585
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_012062.5(DNM1L):c.*1242G>A rs10844336 0.14342
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) rs685523 0.10882
NM_014915.3(ANKRD26):c.*815dup rs397845107 0.10151
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp) rs34024143 0.09518
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_139027.6(ADAMTS13):c.987+11C>T rs28729234 0.09160
NM_000373.4(UMPS):c.*56del rs3836305 0.09036
NM_014915.3(ANKRD26):c.*1235del rs112091269 0.08856
NM_014915.3(ANKRD26):c.*68_*69del rs3215884 0.08761
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.08554
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.08527
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_012062.5(DNM1L):c.*600C>T rs3600 0.08008
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_139025.4(ADAMTS13):c.-357T>C rs34265876 0.07895
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_032844.4(MASTL):c.-481C>T rs28365962 0.07150
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751 0.06757
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06671
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_000130.5(F5):c.1380C>T (p.Asn460=) rs6015 0.06377
NM_000130.5(F5):c.1716G>A (p.Glu572=) rs6036 0.06356
NM_000130.5(F5):c.1238T>C (p.Met413Thr) rs6033 0.06350
NM_000130.5(F5):c.1926C>A (p.Thr642=) rs6037 0.06314
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000342.4(SLC4A1):c.*1103del rs111655803 0.06180
NM_000433.3(NCF2):c.-249_-248insA rs35066000 0.06127
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) rs28647808 0.05902
NM_138477.4(CDAN1):c.*463_*465del rs111961345 0.05900
NM_032844.4(MASTL):c.-199G>C rs41282216 0.05801
NM_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_139027.6(ADAMTS13):c.686+4T>G rs36219245 0.05749
NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) rs34054981 0.05724
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu) rs566672558 0.05671
NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=) rs28571612 0.05636
NM_004629.1(FANCG):c.-504A>T rs17885140 0.05593
NM_001849.4(COL6A2):c.*61G>A rs1043801 0.05523
NM_000552.5(VWF):c.7771-13C>T rs11063962 0.05514
NM_000130.5(F5):c.*1820A>C rs72708013 0.05470
NM_000130.5(F5):c.*1246C>T rs9332676 0.05464
NM_000130.5(F5):c.*873C>T rs9332673 0.05461
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05391
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly) rs6027 0.05290
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_000129.4(F13A1):c.*443G>A rs3024486 0.04832
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04647
NM_000129.4(F13A1):c.*112G>T rs3024463 0.04625
NM_000552.5(VWF):c.6345T>A (p.Thr2115=) rs11537642 0.04599
NM_000135.4(FANCA):c.*679del rs375657470 0.04486
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04240
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_019616.4(F7):c.*1146A>G rs3093255 0.04222
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_019616.4(F7):c.*673A>G rs3093251 0.03895
NM_152564.5(VPS13B):c.*702dup rs200421894 0.03823
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000552.5(VWF):c.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.03498
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_000504.4(F10):c.-40C>T rs3212994 0.03388
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_001018115.3(FANCD2):c.4281+270A>G rs17032386 0.03356
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=) rs34934621 0.03291
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_019616.4(F7):c.*1275A>G rs3093257 0.03241
NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=) rs28641026 0.03155
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.03142
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) rs28503257 0.03107
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_019616.4(F7):c.*639G>A rs3093250 0.02923
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_005373.3(MPL):c.*662C>T rs1763698 0.02711
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_001001548.3(CD36):c.1125+13C>A rs3211942 0.02510
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02430
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_001271769.2(AP3B1):c.*588A>G rs114954951 0.02413
NM_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_000186.3(CFH):c.-79A>G rs35906110 0.02400
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_003126.4(SPTA1):c.958-10C>A rs12085628 0.02300
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_019616.4(F7):c.*888G>A rs79733913 0.02191
NM_000552.5(VWF):c.1945+15T>A rs71582861 0.02177
NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His) rs36090624 0.02177
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_000552.5(VWF):c.1794C>T (p.Ala598=) rs35302737 0.02100
NM_000130.5(F5):c.*1118G>A rs9332675 0.02056
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe) rs3024477 0.01940
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01876
NM_000552.5(VWF):c.1433-10T>C rs66722092 0.01853
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_000552.5(VWF):c.5667C>T (p.Pro1889=) rs56981471 0.01850
NM_152564.4(VPS13B):c.*1932T>G rs10106711 0.01850
NM_000504.4(F10):c.399C>T (p.Asn133=) rs5962 0.01840
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400 0.01721
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_173842.3(IL1RN):c.*310T>C rs4252027 0.01657
NM_000212.3(ITGB3):c.*1542C>T rs73322321 0.01652
NM_000212.3(ITGB3):c.*919C>T rs73322319 0.01650
NM_173842.3(IL1RN):c.459C>T (p.Asp153=) rs4252023 0.01650
NM_001994.3(F13B):c.1707T>G (p.Asp569Glu) rs6000 0.01612
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=) rs36219562 0.01608
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_012062.5(DNM1L):c.*1415T>C rs114366772 0.01556
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_015175.3(NBEAL2):c.*219A>C rs1048808 0.01517
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_001994.3(F13B):c.*89G>C rs17549873 0.01500
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_139027.6(ADAMTS13):c.2508T>C (p.Asp836=) rs36221472 0.01405
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_019616.4(F7):c.*1649G>A rs3093259 0.01345
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01344
NM_005476.7(GNE):c.*74G>A rs16933089 0.01338
NM_000821.7(GGCX):c.*781A>C rs142680507 0.01337
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_017875.4(SLC25A38):c.-209A>G rs143903497 0.01332
NM_139279.6(MCFD2):c.*2761T>C rs193204253 0.01332
NM_005476.7(GNE):c.*2211C>G rs150978860 0.01319
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_001063.4(TF):c.1602C>T (p.Tyr534=) rs7845 0.01304
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963 0.01270
NM_000312.4(PROC):c.1107G>A (p.Pro369=) rs61731660 0.01266
NM_000552.5(VWF):c.390C>T (p.Ser130=) rs2229444 0.01260
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_000130.5(F5):c.*476C>T rs72708017 0.01259
NC_000012.12:g.32744566G>C rs148183516 0.01245
NM_001250.5(CD40):c.-69delT rs11569300 0.01244
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_152564.5(VPS13B):c.*336_*353dup rs554420171 0.01237
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_000342.4(SLC4A1):c.*794del rs45515496 0.01217
NM_006363.5(SEC23B):c.-57G>C rs113396443 0.01206
NM_002473.5(MYH9):c.-201G>A rs189394948 0.01205
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01203
NM_000375.3(UROS):c.-31G>T rs73381212 0.01190
NM_001014.5(RPS10):c.-98T>C rs113071821 0.01181
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_001014.4(RPS10):c.-43T>G rs111597547 0.01179
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_022051.3(EGLN1):c.*494G>A rs144067360 0.01167
NM_022051.3(EGLN1):c.*1787T>G rs143135847 0.01166
NM_017875.4(SLC25A38):c.-292G>A rs142441701 0.01159
NM_005373.3(MPL):c.*1054G>A rs139528456 0.01153
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_000373.4(UMPS):c.*4078T>C rs13315593 0.01135
NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys) rs36221451 0.01123
NM_139027.6(ADAMTS13):c.1797C>T (p.Ile599=) rs36221216 0.01122
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081 0.01093
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_019616.4(F7):c.64+983G>A rs3093238 0.01072
NM_080669.6(SLC46A1):c.*4316C>G rs117397871 0.01065
NM_000312.4(PROC):c.630G>A (p.Pro210=) rs2069927 0.01043
NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) rs117576908 0.01035
NM_000313.4(PROS1):c.*197C>T rs182088150 0.01026
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_000133.4(F9):c.1095A>G (p.Ser365=) rs112057482 0.01021
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) rs114049933 0.01021
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_019616.4(F7):c.64+8C>T rs10482844 0.00989
NM_000313.4(PROS1):c.1032C>T (p.Ile344=) rs78449232 0.00981
NM_000373.4(UMPS):c.*2901G>C rs144492816 0.00977
NM_000373.4(UMPS):c.*2884A>G rs139426908 0.00976
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_000129.4(F13A1):c.1689G>A (p.Gly563=) rs58315745 0.00958
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_003126.4(SPTA1):c.6530+15A>T rs78561085 0.00935
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_000373.4(UMPS):c.*3732C>T rs111966656 0.00908
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_001386140.1(MTTP):c.*515G>A rs116005476 0.00885
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile) rs139105452 0.00876
NM_000312.4(PROC):c.-33C>T rs116169054 0.00873
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_080669.6(SLC46A1):c.*2123G>C rs7225850 0.00854
NM_002203.4(ITGA2):c.1096+11dup rs570925083 0.00851
NM_018389.5(SLC35C1):c.*1208G>A rs115509471 0.00851
NM_004531.5(MOCS2):c.*321A>G rs73756618 0.00849
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=) rs36222899 0.00845
NM_022725.4(FANCF):c.*1484G>A rs181285048 0.00843
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_139279.6(MCFD2):c.*1407C>T rs138459734 0.00806
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_001430.5(EPAS1):c.*1040_*1041insG rs111426869 0.00804
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000212.3(ITGB3):c.*1154G>A rs56288308 0.00791
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000373.4(UMPS):c.*1349G>A rs138112683 0.00768
NM_005373.3(MPL):c.*709C>T rs185654501 0.00766
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_005570.4(LMAN1):c.*164A>G rs41332251 0.00758
NM_000602.5(SERPINE1):c.*180C>T rs41334349 0.00755
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_000130.5(F5):c.*376A>T rs76510731 0.00746
NM_019616.4(F7):c.*533A>C rs116688254 0.00744
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_052945.4(TNFRSF13C):c.192C>T (p.Gly64=) rs529563231 0.00721
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_032844.4(MASTL):c.-106T>C rs3824594 0.00700
NM_139025.4(ADAMTS13):c.-168C>T rs36218240 0.00689
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_000130.5(F5):c.*1488T>C rs75764442 0.00676
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_002473.5(MYH9):c.*1394C>T rs144335048 0.00657
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_001063.3(TF):c.-65G>C rs41298275 0.00626
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=) rs73020251 0.00621
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_005570.4(LMAN1):c.936C>T (p.Pro312=) rs145829103 0.00609
NM_001375808.2(LPIN2):c.*358G>A rs184193388 0.00608
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_139027.6(ADAMTS13):c.824+13C>T rs149586801 0.00593
NM_001754.5(RUNX1):c.*2193del rs201977305 0.00589
NM_000128.4(F11):c.1016G>T (p.Cys339Phe) rs5967 0.00586
NM_032043.3(BRIP1):c.*283del rs531656835 0.00584
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_173841.2(IL1RN):c.-83G>A rs45526933 0.00580
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_005141.5(FGB):c.1113A>G (p.Ser371=) rs6057 0.00574
NM_032638.5(GATA2):c.-46+13C>T rs559062253 0.00574
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_139279.6(MCFD2):c.310-11G>C rs144139062 0.00567
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000552.5(VWF):c.5664+15G>A rs7961539 0.00560
NM_139027.6(ADAMTS13):c.*77C>T rs180910039 0.00559
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_017875.4(SLC25A38):c.*809C>T rs71325527 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_005373.3(MPL):c.*601C>T rs527941032 0.00524
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_006996.3(SLC19A2):c.-114C>T rs145285893 0.00519
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_002203.4(ITGA2):c.*1641C>G rs10076541 0.00494
NM_000211.5(ITGB2):c.*38T>C rs114632253 0.00491
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000136.3(FANCC):c.*1895T>C rs56161090 0.00488
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_000130.5(F5):c.*1290G>A rs9332677 0.00480
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00480
NM_032043.3(BRIP1):c.*729C>T rs137967725 0.00475
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_139279.6(MCFD2):c.*569G>A rs149363149 0.00473
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_002203.4(ITGA2):c.*1921G>T rs9292006 0.00470
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_005476.7(GNE):c.-65G>A rs138897916 0.00463
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_022081.6(HPS4):c.*1850G>A rs143168600 0.00456
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491 0.00455
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_000552.5(VWF):c.55+8C>A rs114713980 0.00452
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000211.5(ITGB2):c.*167C>T rs561251271 0.00450
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_001375808.2(LPIN2):c.*2553G>A rs149332969 0.00440
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_000312.4(PROC):c.399C>T (p.Arg133=) rs200045749 0.00427
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000821.7(GGCX):c.*962G>C rs78372899 0.00425
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_000312.4(PROC):c.924C>T (p.Pro308=) rs13388546 0.00422
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926 0.00414
NM_003126.4(SPTA1):c.1600-10A>G rs148156245 0.00410
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_003126.4(SPTA1):c.*68C>G rs186892978 0.00406
NM_032043.3(BRIP1):c.*152G>T rs540229694 0.00405
NM_001063.4(TF):c.1688-4C>A rs185023567 0.00402
NM_000059.4(BRCA2):c.*842A>G rs192347116 0.00401
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_024006.6(VKORC1):c.129C>T (p.Cys43=) rs61742233 0.00401
NM_025215.6(PUS1):c.*119C>T rs117705819 0.00401
NM_001814.5(CTSC):c.-91T>G rs144306006 0.00400
NM_000821.7(GGCX):c.*1277G>A rs60864851 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_139279.6(MCFD2):c.*354C>T rs191255002 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775 0.00389
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
NM_001375808.2(LPIN2):c.*1586G>A rs144299426 0.00382
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_080911.3(UNG):c.*708T>C rs150677845 0.00374
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_005373.3(MPL):c.*1506G>A rs115780311 0.00362
NM_032043.3(BRIP1):c.*3302G>T rs188292745 0.00362
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000373.4(UMPS):c.*4876C>G rs192036374 0.00361
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876 0.00358
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_000059.4(BRCA2):c.*839T>C rs76358429 0.00354
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_052945.4(TNFRSF13C):c.282C>T (p.Val94=) rs190252814 0.00351
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_080669.6(SLC46A1):c.*3120A>G rs147971222 0.00348
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=) rs77756935 0.00345
NM_021870.3(FGG):c.78+9G>A rs2066857 0.00345
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00344
NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly) rs34127778 0.00344
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_000222.3(KIT):c.*299G>C rs185479436 0.00330
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_020661.4(AICDA):c.*1139A>G rs773190855 0.00330
NM_000313.4(PROS1):c.-62T>G rs556711298 0.00328
NM_005570.4(LMAN1):c.*1921T>C rs74735102 0.00327
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_002693.3(POLG):c.3644-72C>A rs1801377 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00310
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_000195.5(HPS1):c.*736C>T rs149708847 0.00306
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_138387.4(G6PC3):c.-194C>T rs28370440 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_032444.4(SLX4):c.*1041A>G rs117958592 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_022051.3(EGLN1):c.*387G>A rs192117490 0.00302
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_001770.6(CD19):c.1311C>T (p.Ser437=) rs148047850 0.00301
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_001063.4(TF):c.993G>A (p.Lys331=) rs140829783 0.00299
NC_000005.10:g.177409584C>G rs41309132 0.00297
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_032043.3(BRIP1):c.*1964T>C rs140267868 0.00297
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_080669.6(SLC46A1):c.*1648G>A rs114008979 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00291
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000342.4(SLC4A1):c.*1227A>C rs141425539 0.00288
NM_018389.4(SLC35C1):c.-665C>T rs530622849 0.00288
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_004629.1(FANCG):c.-450G>C rs535301610 0.00283
NM_138477.4(CDAN1):c.1524A>G (p.Gln508=) rs147500837 0.00283
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_000211.4(ITGB2):c.-107A>T rs572346607 0.00281
NM_005476.7(GNE):c.*583G>A rs182741472 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000821.7(GGCX):c.189C>T (p.Ser63=) rs41290035 0.00277
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_015175.3(NBEAL2):c.5301+11C>T rs201354947 0.00274
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_000821.7(GGCX):c.582C>T (p.His194=) rs76767923 0.00271
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_001386140.1(MTTP):c.1557+7T>A rs142706742 0.00266
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_000313.4(PROS1):c.*992T>G rs538711279 0.00263
NM_000602.5(SERPINE1):c.*950C>T rs536144892 0.00262
NM_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_172351.3(CD46):c.-11C>A rs74477032 0.00262
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) rs115365142 0.00260
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_000602.5(SERPINE1):c.*661T>C rs138333231 0.00259
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_006846.4(SPINK5):c.1605G>T (p.Val535=) rs201831966 0.00259
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_000313.4(PROS1):c.*454G>A rs539871594 0.00256
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_001250.6(CD40):c.52-15C>T rs187683423 0.00253
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001063.4(TF):c.333G>A (p.Gln111=) rs150548621 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00251
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019 0.00248
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000130.5(F5):c.*2037G>A rs550454517 0.00246
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr) rs150104888 0.00246
NM_000342.4(SLC4A1):c.-60G>A rs75489266 0.00245
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00243
NM_080669.6(SLC46A1):c.*2852C>T rs569526091 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu) rs41476148 0.00241
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met) rs74988902 0.00239
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_000211.5(ITGB2):c.807C>T (p.Phe269=) rs142381225 0.00235
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_005373.3(MPL):c.*364C>T rs138892634 0.00233
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_000211.5(ITGB2):c.1172C>T (p.Thr391Met) rs141201564 0.00232
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_001374504.1(TMPRSS6):c.406G>A (p.Glu136Lys) rs116310349 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_000130.5(F5):c.*581C>A rs180742904 0.00227
NM_032444.4(SLX4):c.*658T>C rs541410329 0.00227
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279 0.00225
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_000617.3(SLC11A2):c.1303C>A (p.Leu435Ile) rs144863268 0.00222
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00221
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_000602.5(SERPINE1):c.*1787T>C rs182671641 0.00218
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_019616.4(F7):c.1104C>T (p.Ala368=) rs6044 0.00216
NM_001375808.2(LPIN2):c.*1147A>G rs139015163 0.00215
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_000059.4(BRCA2):c.*841A>G rs186619625 0.00210
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_001754.5(RUNX1):c.*1683_*1684del rs55761346 0.00208
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_032444.4(SLX4):c.-381A>G rs375326827 0.00205
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000602.5(SERPINE1):c.*1521T>A rs180692432 0.00204
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_001374504.1(TMPRSS6):c.307C>T (p.Arg103Cys) rs113803353 0.00199
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_000212.3(ITGB3):c.*2117G>T rs534143307 0.00198
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016 0.00196
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) rs77803650 0.00195
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_000617.3(SLC11A2):c.832-3T>C rs201248826 0.00193
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_000121.3(EPOR):c.-133T>G rs147119630 0.00188
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000342.4(SLC4A1):c.*1792G>A rs143785442 0.00184
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622 0.00183
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_005373.3(MPL):c.*1603A>C rs142139493 0.00182
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00181
NM_005373.3(MPL):c.*1180G>A rs117166528 0.00181
NM_001040436.3(YARS2):c.*469C>T rs182429712 0.00179
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_080911.3(UNG):c.*463C>T rs55947010 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_005373.3(MPL):c.*1116G>A rs144177827 0.00175
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_000342.4(SLC4A1):c.-135G>A rs183529485 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000312.4(PROC):c.-21-5C>T rs41269833 0.00172
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_000342.4(SLC4A1):c.-30C>T rs148028272 0.00167
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_183235.3(RAB27A):c.-142-86A>T rs191174694 0.00165
NM_000204.5(CFI):c.916A>G (p.Ile306Val) rs113273712 0.00164
NM_000313.4(PROS1):c.*469A>C rs147496684 0.00164
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_000821.7(GGCX):c.*4726A>C rs377381751 0.00160
NM_001250.6(CD40):c.717C>T (p.Pro239=) rs144466131 0.00160
NM_005476.7(GNE):c.*2056C>T rs183641957 0.00160
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987 0.00158
NM_183235.3(RAB27A):c.*2216A>G rs150526064 0.00158
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049 0.00156
NM_018062.4(FANCL):c.817T>C (p.Leu273=) rs61753272 0.00156
NM_000136.3(FANCC):c.*1262T>C rs45520432 0.00155
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_000135.4(FANCA):c.*654C>T rs17227438 0.00151
NM_000433.4(NCF2):c.1552G>C (p.Asp518His) rs143901397 0.00151
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_000821.7(GGCX):c.*463G>A rs553383801 0.00149
NM_032043.3(BRIP1):c.*3755A>G rs183234058 0.00149
NM_000037.4(ANK1):c.*821C>T rs115248068 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_003126.4(SPTA1):c.*387T>C rs549664412 0.00146
NM_006846.4(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775 0.00145
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) rs145398587 0.00145
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_022051.3(EGLN1):c.*2043C>T rs193073371 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile) rs139573207 0.00142
NM_021870.3(FGG):c.*535A>G rs146143405 0.00140
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala) rs201210527 0.00138
NM_001375808.2(LPIN2):c.*2076C>A rs112529707 0.00137
NM_001430.5(EPAS1):c.525G>A (p.Thr175=) rs115264325 0.00137
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_022725.4(FANCF):c.*709G>T rs140060318 0.00136
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_000204.5(CFI):c.1657C>T (p.Pro553Ser) rs113460688 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_000057.4(BLM):c.*77T>A rs116293756 0.00133
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060 0.00133
NM_000313.4(PROS1):c.*380A>T rs138546241 0.00133
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_020661.4(AICDA):c.427+4C>T rs201180477 0.00130
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000132.4(F8):c.*1379A>G rs36101366 0.00127
NM_000617.3(SLC11A2):c.*546G>A rs193030246 0.00126
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_000133.4(F9):c.*1048G>A rs752396182 0.00125
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) rs34878178 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_001374504.1(TMPRSS6):c.*411C>T rs6000549 0.00123
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_001375808.2(LPIN2):c.*1077C>G rs563088438 0.00121
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_022051.3(EGLN1):c.*21C>G rs199612416 0.00121
NM_022081.6(HPS4):c.*1253G>A rs534586940 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_000361.3(THBD):c.*158G>A rs3176121 0.00118
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017 0.00118
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299 0.00118
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_000312.4(PROC):c.891C>T (p.Asp297=) rs5935 0.00115
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_203447.4(DOCK8):c.3813A>G (p.Lys1271=) rs75411647 0.00115
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00114
NM_000059.4(BRCA2):c.*382A>G rs559790882 0.00113
NM_000133.4(F9):c.819T>C (p.Val273=) rs1800455 0.00110
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 0.00110
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_018389.5(SLC35C1):c.*1569G>C rs139986610 0.00108
NM_000136.3(FANCC):c.*1879C>T rs192262179 0.00107
NM_001375808.2(LPIN2):c.*850G>A rs73375250 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_022081.6(HPS4):c.-585T>G rs187762406 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_000602.5(SERPINE1):c.*440T>C rs58167134 0.00104
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847 0.00102
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys) rs202209383 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_002203.4(ITGA2):c.*3331A>G rs140380471 0.00101
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_080669.6(SLC46A1):c.*1332G>A rs146041886 0.00101
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_000037.4(ANK1):c.2960+13G>T rs200746947 0.00099
NM_000211.5(ITGB2):c.2189G>A (p.Ser730Asn) rs140767058 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_002203.4(ITGA2):c.2780A>G (p.Asn927Ser) rs2287870 0.00096
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_003126.4(SPTA1):c.3715-11T>C rs147184530 0.00094
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_005373.3(MPL):c.*573G>A rs192016153 0.00093
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000312.4(PROC):c.66T>C (p.Pro22=) rs144300387 0.00092
NM_002203.4(ITGA2):c.2241C>T (p.Pro747=) rs41366951 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000821.7(GGCX):c.*3067T>C rs139304933 0.00090
NM_000821.7(GGCX):c.*680G>C rs139300235 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_001386140.1(MTTP):c.*694A>C rs187658213 0.00089
NM_003126.4(SPTA1):c.3108C>T (p.His1036=) rs34886778 0.00089
NM_005373.3(MPL):c.*748C>T rs190071085 0.00087
NM_181507.2(HPS5):c.*70C>T rs371535842 0.00087
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_006206.6(PDGFRA):c.*2100A>G rs192159089 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_001022.4(RPS19):c.-10A>G rs564634801 0.00080
NM_005476.7(GNE):c.*1635G>A rs190727651 0.00080
NM_005570.4(LMAN1):c.214+7C>T rs2277728 0.00080
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) rs186996510 0.00079
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_139279.6(MCFD2):c.*557G>A rs185756640 0.00078
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00077
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638 0.00077
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_002473.5(MYH9):c.*1399C>T rs544966086 0.00076
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) rs188875641 0.00076
NM_018062.4(FANCL):c.*333A>G rs147811379 0.00076
NM_000037.4(ANK1):c.*992T>C rs559077429 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_006206.5(PDGFRA):c.*2973+14G>A rs137930765 0.00074
NM_000136.3(FANCC):c.*593C>G rs561885351 0.00073
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000373.4(UMPS):c.*1155T>C rs112368493 0.00070
NM_000821.7(GGCX):c.*1916C>T rs192730155 0.00069
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_152564.5(VPS13B):c.*924A>C rs186225330 0.00066
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071 0.00065
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722 0.00063
NM_005476.7(GNE):c.*2576A>G rs531142218 0.00063
NM_000037.4(ANK1):c.*1667T>A rs3802314 0.00061
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_000373.4(UMPS):c.*4016T>C rs77601301 0.00061
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_001375808.2(LPIN2):c.*158G>A rs547872442 0.00058
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_001375808.2(LPIN2):c.*151G>A rs571000282 0.00056
NM_001375808.2(LPIN2):c.*2103G>A rs561577089 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00055
NM_203447.4(DOCK8):c.986C>T (p.Ala329Val) rs75352090 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000342.4(SLC4A1):c.349+15C>G rs541501285 0.00054
NM_183235.3(RAB27A):c.*725C>T rs116903039 0.00054
NM_020661.4(AICDA):c.*958A>G rs184392902 0.00053
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866 0.00053
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001063.4(TF):c.521C>T (p.Ser174Leu) rs150679929 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_000602.5(SERPINE1):c.357G>A (p.Ala119=) rs6091 0.00050
NM_000037.4(ANK1):c.*395T>A rs550204540 0.00049
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) rs186415745 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000342.4(SLC4A1):c.*1237C>T rs774513767 0.00048
NM_000375.3(UROS):c.*96G>A rs182303293 0.00048
NM_001770.6(CD19):c.406C>T (p.Leu136=) rs117769220 0.00048
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_022081.6(HPS4):c.-395A>C rs147631281 0.00047
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139 0.00046
NM_000136.3(FANCC):c.*213T>G rs184733418 0.00046
NM_203447.4(DOCK8):c.5355+6C>T rs188141951 0.00046
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000488.4(SERPINC1):c.678C>T (p.Thr226=) rs2227627 0.00045
NM_022081.5(HPS4):c.-661G>T rs753668169 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000133.4(F9):c.907C>T (p.His303Tyr) rs1801202 0.00044
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_025215.6(PUS1):c.456C>G (p.Ala152=) rs369170782 0.00044
NM_000136.3(FANCC):c.*660C>T rs114612660 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_033022.3(RPS24):c.-50G>A rs190989611 0.00043
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_203447.4(DOCK8):c.*378G>A rs544124760 0.00040
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000130.5(F5):c.5558G>T (p.Gly1853Val) rs182566496 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_000373.4(UMPS):c.*3065C>T rs116880739 0.00038
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798 0.00038
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe) rs116959874 0.00038
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) rs201909029 0.00038
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=) rs145347209 0.00037
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys) rs41400249 0.00036
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=) rs146520285 0.00036
NM_024006.6(VKORC1):c.352G>C (p.Val118Leu) rs753570105 0.00036
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373 0.00035
NM_020661.4(AICDA):c.*1934C>T rs104894981 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_000064.4(C3):c.4824C>T (p.Ser1608=) rs139457470 0.00034
NM_000342.4(SLC4A1):c.*1933G>A rs565128885 0.00034
NM_000460.4(THPO):c.*18G>A rs180680111 0.00034
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_032444.4(SLX4):c.*1035A>G rs149634682 0.00034
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_000313.4(PROS1):c.1494T>C (p.Asn498=) rs76877671 0.00033
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190 0.00032
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_000969.5(RPL5):c.-62C>G rs368663464 0.00032
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_152564.5(VPS13B):c.*305G>A rs149912942 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000222.3(KIT):c.67+12C>T rs374618962 0.00031
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_022051.2(EGLN1):c.-1296T>G rs568496391 0.00030
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606 0.00030
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000342.4(SLC4A1):c.*947C>G rs368389948 0.00029
NM_001172303.3(MASTL):c.1654A>G (p.Ser552Gly) rs369253474 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_000032.5(ALAS2):c.-34C>T rs780642606 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_005373.3(MPL):c.*94C>A rs77858532 0.00027
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000361.3(THBD):c.-12C>T rs370548660 0.00026
NM_001063.4(TF):c.1302C>T (p.Ser434=) rs142542411 0.00026
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_002203.4(ITGA2):c.*3028G>A rs547012254 0.00026
NM_005476.7(GNE):c.*2789G>A rs140396892 0.00026
NM_005476.7(GNE):c.-152G>T rs142004500 0.00026
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_080911.3(UNG):c.622+10C>T rs201555956 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_001374504.1(TMPRSS6):c.992C>T (p.Thr331Met) rs185482276 0.00025
NM_001375808.2(LPIN2):c.*2390C>T rs555969171 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_000128.4(F11):c.*884C>T rs117035365 0.00024
NM_000312.4(PROC):c.1161T>C (p.Cys387=) rs148855579 0.00024
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_000375.3(UROS):c.740C>T (p.Thr247Met) rs199925121 0.00024
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys) rs181448047 0.00024
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_181507.2(HPS5):c.*688A>G rs145507598 0.00024
NM_000037.4(ANK1):c.2097+15C>T rs200206750 0.00023
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_017875.4(SLC25A38):c.*549G>A rs189387075 0.00023
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 0.00022
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 0.00022
NM_001011.4(RPS7):c.-104G>A rs371620447 0.00022
NM_020661.4(AICDA):c.*1662C>A rs527675973 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_006563.5(KLF1):c.-43G>A rs372359976 0.00021
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_181507.2(HPS5):c.*362G>A rs148862838 0.00021
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000132.4(F8):c.*30G>A rs376482768 0.00020
NM_000136.3(FANCC):c.*587C>T rs190544450 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_001374504.1(TMPRSS6):c.1672+9T>C rs200801061 0.00020
NM_005373.3(MPL):c.*1486T>C rs149940158 0.00020
NM_020661.4(AICDA):c.*1704C>T rs557005026 0.00020
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_006206.6(PDGFRA):c.*1778C>A rs182602738 0.00019
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala) rs200641534 0.00019
NM_022051.3(EGLN1):c.924G>A (p.Thr308=) rs201523464 0.00019
NM_024006.6(VKORC1):c.*243G>A rs141753512 0.00019
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_000037.4(ANK1):c.528C>T (p.Ala176=) rs544906793 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000373.4(UMPS):c.*3264G>A rs190423326 0.00018
NM_000419.5(ITGA2B):c.1545-10G>A rs13306474 0.00018
NM_000821.7(GGCX):c.15C>T (p.Ala5=) rs199867398 0.00018
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr) rs146993090 0.00017
NM_005476.7(GNE):c.*2415T>A rs143569888 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_203447.4(DOCK8):c.5223+4A>G rs117109271 0.00017
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993 0.00016
NM_000121.4(EPOR):c.1428C>T (p.Ala476=) rs141096553 0.00016
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241 0.00016
NM_000130.5(F5):c.*838T>C rs376103455 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000132.4(F8):c.2383A>G (p.Arg795Gly) rs2228152 0.00016
NM_000222.3(KIT):c.1674G>A (p.Lys558=) rs200375589 0.00016
NM_000342.4(SLC4A1):c.-136C>T rs566359654 0.00016
NM_000619.3(IFNG):c.*500C>T rs528060683 0.00016
NM_001430.5(EPAS1):c.886+12G>A rs369745324 0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) rs201279467 0.00016
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu) rs142060916 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_183235.3(RAB27A):c.*668A>G rs118003408 0.00016
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp) rs201721215 0.00015
NM_173841.2(IL1RN):c.*1156T>C rs140343304 0.00015
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000361.3(THBD):c.*325T>C rs186669520 0.00014
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001430.5(EPAS1):c.-4G>A rs535202677 0.00014
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
NM_002658.6(PLAU):c.453C>T (p.Cys151=) rs374267816 0.00014
NM_005476.7(GNE):c.*2269C>T rs575299401 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406 0.00013
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473 0.00013
NM_000419.5(ITGA2B):c.*51C>T rs139513907 0.00013
NM_001063.4(TF):c.227C>T (p.Ala76Val) rs41298977 0.00013
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755 0.00012
NM_000135.4(FANCA):c.3935-6T>C rs368376237 0.00012
NM_000602.5(SERPINE1):c.1088-9C>T rs762527672 0.00012
NM_000617.3(SLC11A2):c.*153A>G rs146016854 0.00012
NM_000617.3(SLC11A2):c.1348-10T>C rs189993499 0.00012
NM_001386140.1(MTTP):c.*468A>C rs556582995 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000132.4(F8):c.3885C>G (p.Asn1295Lys) rs201393905 0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_000312.4(PROC):c.927C>T (p.Ala309=) rs200731614 0.00011
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_000373.4(UMPS):c.*3494G>A rs575063959 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001754.5(RUNX1):c.*3977G>A rs189557277 0.00011
NM_002203.4(ITGA2):c.1789C>T (p.Arg597Cys) rs146370217 0.00011
NM_002203.4(ITGA2):c.780-11A>T rs202058704 0.00011
NM_005141.5(FGB):c.510T>A (p.Asn170Lys) rs149963684 0.00011
NM_007055.4(POLR3A):c.-103T>A rs117201371 0.00011
NM_032444.4(SLX4):c.1925-13A>T rs201324113 0.00011
NM_032638.5(GATA2):c.42G>T (p.Pro14=) rs372722885 0.00011
NM_058216.3(RAD51C):c.*25C>G rs28363336 0.00011
NM_080669.6(SLC46A1):c.*1392C>A rs141940033 0.00011
NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys) rs185031946 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_000133.4(F9):c.769G>A (p.Val257Ile) rs200608775 0.00010
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000504.4(F10):c.71-8C>T rs374210821 0.00010
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_002203.4(ITGA2):c.2503A>G (p.Ser835Gly) rs773985586 0.00010
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_005373.3(MPL):c.*1674A>T rs536844021 0.00010
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548 0.00010
NM_152564.5(VPS13B):c.*1207G>C rs182082022 0.00010
NM_203447.4(DOCK8):c.5491-7T>A rs184867151 0.00010
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644 0.00009
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000174.5(GP9):c.-128C>T rs554290942 0.00009
NM_000222.3(KIT):c.464C>T (p.Pro155Leu) rs367719489 0.00009
NM_000373.4(UMPS):c.*348C>T rs186337218 0.00009
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00009
NM_014915.3(ANKRD26):c.5060A>T (p.Asn1687Ile) rs373138646 0.00009
NM_021870.3(FGG):c.274C>T (p.Leu92Phe) rs142286849 0.00009
NM_139276.3(STAT3):c.1109+13A>G rs201856889 0.00009
NM_000037.4(ANK1):c.*857C>A rs138767348 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) rs76451285 0.00008
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_001754.5(RUNX1):c.*582del rs201200981 0.00008
NM_002203.4(ITGA2):c.2485C>G (p.Leu829Val) rs41441846 0.00008
NM_012092.4(ICOS):c.*58T>G rs551768116 0.00008
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_139276.3(STAT3):c.1237C>T (p.Leu413=) rs146946014 0.00008
NM_139276.3(STAT3):c.1519G>T (p.Val507Phe) rs145786768 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) rs578116271 0.00007
NM_000821.7(GGCX):c.*165A>G rs181695165 0.00007
NM_000821.7(GGCX):c.*2822C>T rs190959810 0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001022.4(RPS19):c.*54T>C rs527896025 0.00007
NM_001430.5(EPAS1):c.*1746G>A rs540911183 0.00007
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile) rs201754399 0.00007
NM_001710.6(CFB):c.784G>A (p.Val262Ile) rs200645483 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_015175.3(NBEAL2):c.4669C>G (p.Leu1557Val) rs534419583 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_019616.4(F7):c.*1503C>T rs551279029 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=) rs3810814 0.00007
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000063.6(C2):c.*304A>G rs72842444 0.00006
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300 0.00006
NM_000064.4(C3):c.1098A>G (p.Pro366=) rs757883156 0.00006
NM_000064.4(C3):c.1119+10G>A rs752328639 0.00006
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306 0.00006
NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro) rs370841243 0.00006
NM_000136.3(FANCC):c.*250G>A rs193261247 0.00006
NM_000186.4(CFH):c.3310+12T>C rs757045842 0.00006
NM_000204.5(CFI):c.129C>T (p.Cys43=) rs146462954 0.00006
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698 0.00006
NM_000821.7(GGCX):c.*2811T>C rs118153916 0.00006
NM_000821.7(GGCX):c.1378G>A (p.Val460Ile) rs149078813 0.00006
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001029.5(RPS26):c.-33C>T rs372794158 0.00006
NM_001172303.3(MASTL):c.1210C>T (p.Leu404=) rs145821259 0.00006
NM_001430.5(EPAS1):c.1554+7G>A rs376028682 0.00006
NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser) rs767342253 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_014915.3(ANKRD26):c.1213A>G (p.Met405Val) rs555822164 0.00006
NM_015175.3(NBEAL2):c.4978C>T (p.Arg1660Cys) rs142355538 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_080669.6(SLC46A1):c.*60G>T rs41297121 0.00006
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) rs769873702 0.00005
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) rs140928439 0.00005
NM_000132.4(F8):c.2217G>A (p.Glu739=) rs781850654 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000174.5(GP9):c.123C>T (p.His41=) rs201755437 0.00005
NM_000204.5(CFI):c.57+4A>G rs757464411 0.00005
NM_000312.4(PROC):c.400+6G>T rs527647588 0.00005
NM_000460.4(THPO):c.852G>A (p.Leu284=) rs150122652 0.00005
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_002473.6(MYH9):c.2205C>T (p.Asp735=) rs370860479 0.00005
NM_014915.3(ANKRD26):c.269A>G (p.Asn90Ser) rs752629436 0.00005
NM_000121.4(EPOR):c.1022C>T (p.Thr341Met) rs754708788 0.00004
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) rs775164142 0.00004
NM_000121.4(EPOR):c.24C>T (p.Leu8=) rs577368929 0.00004
NM_000133.4(F9):c.108C>T (p.Asn36=) rs184837275 0.00004
NM_000133.4(F9):c.658T>A (p.Ser220Thr) rs777361659 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_000212.3(ITGB3):c.1232C>T (p.Ser411Phe) rs78121013 0.00004
NM_000222.3(KIT):c.2802+9A>G rs369450271 0.00004
NM_000619.3(IFNG):c.*465A>T rs532081510 0.00004
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_001014.4(RPS10):c.-47A>G rs529023165 0.00004
NM_001172303.3(MASTL):c.2245C>T (p.Leu749=) rs370730895 0.00004
NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys) rs770783327 0.00004
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_002473.6(MYH9):c.1728+7A>G rs201942027 0.00004
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) rs3737521 0.00004
NM_004629.2(FANCG):c.-93C>G rs532840867 0.00004
NM_005373.3(MPL):c.*400C>T rs558390922 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005476.7(GNE):c.*1204T>C rs183365416 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006363.6(SEC23B):c.*278T>C rs564007974 0.00004
NM_014915.3(ANKRD26):c.1565-4T>C rs747570982 0.00004
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_173842.3(IL1RN):c.*1039C>T rs559281814 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr) rs200813210 0.00003
NM_000132.4(F8):c.2535C>A (p.Asp845Glu) rs200316756 0.00003
NM_000204.5(CFI):c.309C>T (p.Asn103=) rs761425840 0.00003
NM_000313.4(PROS1):c.1446C>T (p.Gly482=) rs535201753 0.00003
NM_000361.3(THBD):c.1083G>A (p.Glu361=) rs370377519 0.00003
NM_000373.4(UMPS):c.*3130C>T rs374728245 0.00003
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_001172303.3(MASTL):c.*51T>A rs752083792 0.00003
NM_001172303.3(MASTL):c.478G>A (p.Asp160Asn) rs201425706 0.00003
NM_001374504.1(TMPRSS6):c.*576C>A rs139014458 0.00003
NM_001754.5(RUNX1):c.*3527T>G rs548011352 0.00003
NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu) rs199808499 0.00003
NM_002473.6(MYH9):c.1729-5G>A rs770021950 0.00003
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) rs145241551 0.00003
NM_002473.6(MYH9):c.233C>T (p.Pro78Leu) rs150313549 0.00003
NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys) rs565611676 0.00003
NM_004531.5(MOCS2):c.*171G>C rs191465075 0.00003
NM_014915.3(ANKRD26):c.452A>C (p.His151Pro) rs752031374 0.00003
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) rs116148295 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000132.4(F8):c.3981G>A (p.Thr1327=) rs374245599 0.00002
NM_000136.3(FANCC):c.*2271G>A rs562841213 0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 0.00002
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381 0.00002
NM_001172303.3(MASTL):c.1556C>T (p.Thr519Ile) rs147548167 0.00002
NM_001250.6(CD40):c.621C>T (p.Ala207=) rs535886332 0.00002
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002
NM_001754.5(RUNX1):c.444C>T (p.Thr148=) rs773689002 0.00002
NM_002203.4(ITGA2):c.2608T>C (p.Ser870Pro) rs148313613 0.00002
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002
NM_006947.4(SRP72):c.1225-6G>A rs752594366 0.00002
NM_014915.3(ANKRD26):c.3367A>G (p.Asn1123Asp) rs746125031 0.00002
NM_014915.3(ANKRD26):c.3704A>T (p.Gln1235Leu) rs765506121 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_033022.4(RPS24):c.-23C>T rs766457744 0.00002
NM_000037.4(ANK1):c.2370G>T (p.Thr790=) rs540304535 0.00001
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224 0.00001
NM_000064.4(C3):c.1296G>A (p.Ser432=) rs760150621 0.00001
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605 0.00001
NM_000064.4(C3):c.4850+12C>A rs748416799 0.00001
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209 0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000132.4(F8):c.6957G>A (p.Pro2319=) rs200902529 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000136.3(FANCC):c.*1516A>G rs541816451 0.00001
NM_000195.5(HPS1):c.-219C>G rs574471533 0.00001
NM_000204.5(CFI):c.1661A>T (p.Glu554Val) rs754572081 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000361.3(THBD):c.920C>T (p.Ser307Leu) rs372556297 0.00001
NM_000375.3(UROS):c.-27+10G>A rs376517536 0.00001
NM_000460.4(THPO):c.310C>A (p.Pro104Thr) rs200191903 0.00001
NM_000821.7(GGCX):c.*4314T>C rs530247310 0.00001
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001172303.3(MASTL):c.1703A>C (p.Asn568Thr) rs761812157 0.00001
NM_001172303.3(MASTL):c.1876C>G (p.Pro626Ala) rs145592194 0.00001
NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys) rs777687956 0.00001
NM_002203.4(ITGA2):c.1176T>C (p.Asp392=) rs144998443 0.00001
NM_002203.4(ITGA2):c.1524G>A (p.Val508=) rs757932706 0.00001
NM_002203.4(ITGA2):c.2434C>A (p.Gln812Lys) rs761499417 0.00001
NM_002203.4(ITGA2):c.2571+15C>G rs534251174 0.00001
NM_002658.6(PLAU):c.57+6T>C rs770181188 0.00001
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly) rs369714529 0.00001
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) rs746827368 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_005373.3(MPL):c.854-3T>C rs201514537 0.00001
NM_005476.7(GNE):c.*1021A>G rs10435799 0.00001
NM_006206.6(PDGFRA):c.*505A>G rs373134586 0.00001
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr) rs563016888 0.00001
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn) rs555347387 0.00001
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly) rs375050626 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_015175.3(NBEAL2):c.*65A>G rs538014431 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_032043.3(BRIP1):c.*3479A>G rs573351550 0.00001
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg) rs368657696 0.00001
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_139276.3(STAT3):c.645+15C>T rs772535269 0.00001
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser) rs547880287 0.00001
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759 0.00001
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) rs575314722 0.00001
NM_000037.4(ANK1):c.*1892G>A rs116365681
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000059.4(BRCA2):c.*248T>C rs542356535
NM_000059.4(BRCA2):c.-59_-57del rs545321666
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000061.3(BTK):c.*334TG[4] rs200445244
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.4645C>T (p.Leu1549=) rs149202905
NM_000081.4(LYST):c.-7-14T>C
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.9162+11G>A
NM_000129.4(F13A1):c.-18-5dup rs750373197
NM_000130.5(F5):c.*1436T>A rs9332678
NM_000130.5(F5):c.*2328G>C rs6427196
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000132.4(F8):c.*992A>G rs782499043
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg) rs782791962
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000136.3(FANCC):c.*2164G>A rs566582636
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715AGTT[2] rs56250966
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000174.5(GP9):c.-138-3C>G rs182464550
NM_000211.5(ITGB2):c.*289A>G rs541047362
NM_000211.5(ITGB2):c.*349del rs145404701
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412GAA[1] rs369976877
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000419.5(ITGA2B):c.*150C>A rs77992265
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000506.5(F2):c.423-7G>C rs2070852
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000821.7(GGCX):c.*1282G>A rs574843893
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000996.4(RPL35A):c.*21T>A rs199693579
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>T rs17118262
NM_001029.5(RPS26):c.-9G>T rs372708429
NM_001029.5(RPS26):c.3+7C>T rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001301365.1(LYST):c.-98+16250G>C
NM_001374504.1(TMPRSS6):c.*72G>T rs146358284
NM_001375808.2(LPIN2):c.*1179G>A rs147362027
NM_001375808.2(LPIN2):c.*2197_*2198del rs55834965
NM_001375808.2(LPIN2):c.*2924del rs148191039
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*1373C>A rs112031193
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.2045+8dup rs557111154
NM_001430.5(EPAS1):c.587C>A (p.Thr196Lys) rs780349023
NM_001710.5(CFB):c.-186delG rs796979529
NM_001754.5(RUNX1):c.*2201dup rs201214658
NM_001754.5(RUNX1):c.*2467dup rs200050352
NM_001754.5(RUNX1):c.*263C>G rs527589424
NM_001754.5(RUNX1):c.*667del rs200576340
NM_001754.5(RUNX1):c.*700dup rs11424731
NM_001754.5(RUNX1):c.*730dup rs11424730
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*1818_*1819insTTGGC rs543100435
NM_002203.4(ITGA2):c.*236del rs3212647
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*3308_*3310del rs139102895
NM_002203.4(ITGA2):c.*4006_*4010del rs528320695
NM_002203.4(ITGA2):c.*4045_*4051del rs143236463
NM_002203.4(ITGA2):c.*95dup rs202180218
NM_002658.6(PLAU):c.236G>C (p.Arg79Pro) rs201299522
NM_003126.4(SPTA1):c.1698C>T (p.Ala566=) rs561401543
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_004531.5(MOCS2):c.*44A>C rs367775935
NM_004629.2(FANCG):c.-342G>T rs556082635
NM_005373.3(MPL):c.*1126A>G rs543250497
NM_005476.7(GNE):c.*277ATA[1] rs140089561
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005570.4(LMAN1):c.*860T>G rs41331148
NM_005570.4(LMAN1):c.539+5GT[3] rs3835325
NM_006118.4(HAX1):c.-53del rs373592376
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly) rs541057765
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_012062.5(DNM1L):c.*393A>C rs77298476
NM_012092.4(ICOS):c.*1025A>G rs77882417
NM_014915.3(ANKRD26):c.-51T>A rs762195334
NM_014915.3(ANKRD26):c.1364A>G (p.Asp455Gly) rs199857139
NM_014915.3(ANKRD26):c.1590AGA[2] (p.Glu533del) rs138423863
NM_014915.3(ANKRD26):c.1986-3del rs113123391
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_017875.4(SLC25A38):c.-273G>A rs184769974
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018389.5(SLC35C1):c.*1636G>T rs79173599
NM_018947.6(CYCS):c.*1678dup rs11427893
NM_018947.6(CYCS):c.*1702_*1705dup rs141609926
NM_018947.6(CYCS):c.*3610del rs60346464
NM_018947.6(CYCS):c.*4723_*4725del rs113653188
NM_019616.4(F7):c.*1240C>G rs3093256
NM_019616.4(F7):c.*82T>C rs368359845
NM_020661.4(AICDA):c.*470C>G rs190321240
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-2689_-2686delCACT rs577920148
NM_022051.3(EGLN1):c.*1434_*1436del rs201012894
NM_022051.3(EGLN1):c.*2416_*2419del rs574848765
NM_022051.3(EGLN1):c.*758GTTTT[2] rs576306593
NM_032043.3(BRIP1):c.*2908C>T rs549941795
NM_032043.3(BRIP1):c.*3114del rs35235448
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032444.4(SLX4):c.*128A>G rs528843807
NM_032638.5(GATA2):c.*697C>T rs45437196
NM_032844.4(MASTL):c.-112dup rs150868633
NM_033022.4(RPS24):c.-37C>T rs375555593
NM_033022.4(RPS24):c.3+15G>A rs764832484
NM_052945.4(TNFRSF13C):c.368-13C>G rs201892760
NM_080669.6(SLC46A1):c.*4035G>A rs569679076
NM_080669.6(SLC46A1):c.906A>G (p.Lys302=) rs572650603
NM_080911.3(UNG):c.*788dup rs200602841
NM_080911.3(UNG):c.*866AT[9] rs56185014
NM_138477.4(CDAN1):c.773+14G>A rs543228844
NM_139276.3(STAT3):c.*264dup rs554015274
NM_139276.3(STAT3):c.*31C>T rs374107124
NM_139276.3(STAT3):c.*342GTT[3] rs533596827
NM_152564.5(VPS13B):c.*1212TC[4] rs1258731393
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.*374ATTT[1] rs374440758
NM_152564.5(VPS13B):c.*597_*598dup rs397791669
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*448dup rs72646533
NM_183235.3(RAB27A):c.*1493T>A rs149948399
NM_183235.3(RAB27A):c.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_203447.4(DOCK8):c.*175G>C rs567438048
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_203447.4(DOCK8):c.404+16del rs727505303
NM_206965.2(FTCD):c.1443+9del rs372045405

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