NM_002203.4(ITGA2):c.*2883_*2893dup
|
rs6149022
|
0.74811
|
NM_022081.6(HPS4):c.*1229C>T
|
rs6147576
|
0.47868
|
NM_022081.6(HPS4):c.*1231C>T
|
rs56271395
|
0.35531
|
NM_022081.6(HPS4):c.*1233C>T
|
rs770072939
|
0.16771
|
NM_005476.7(GNE):c.*691A>T
|
rs10972791
|
0.11652
|
NM_020661.4(AICDA):c.*1137A>G
|
rs867594346
|
0.05656
|
NM_006947.4(SRP72):c.*606A>T
|
rs868279024
|
0.05397
|
NM_000821.7(GGCX):c.*107T>G
|
rs78909830
|
0.04352
|
NM_020661.4(AICDA):c.*1136A>G
|
rs371020938
|
0.03107
|
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter)
|
rs3211938
|
0.02669
|
NM_001171506.2(MCFD2):c.-189C>G
|
rs886056125
|
0.02167
|
NM_000129.4(F13A1):c.*1045C>G
|
rs3024487
|
0.02144
|
NM_001001548.3(CD36):c.573G>A (p.Pro191=)
|
rs5956
|
0.01947
|
NM_022081.6(HPS4):c.*1227T>C
|
rs7293228
|
0.01801
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
NM_000552.5(VWF):c.5049A>C (p.Ala1683=)
|
rs79275181
|
0.01607
|
NM_000506.5(F2):c.1602G>A (p.Pro534=)
|
rs5900
|
0.01567
|
NM_022081.5(HPS4):c.-660C>T
|
rs34019374
|
0.01443
|
NM_020661.4(AICDA):c.*1453_*1454insG
|
rs201738977
|
0.01403
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
NM_000130.5(F5):c.*476C>T
|
rs72708017
|
0.01259
|
NM_022081.6(HPS4):c.*1235C>T
|
rs1235169942
|
0.01229
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
NM_017875.4(SLC25A38):c.-292G>A
|
rs142441701
|
0.01159
|
NM_001001548.3(CD36):c.*1419+226A>G
|
rs8956
|
0.01157
|
NM_032383.5(HPS3):c.*135T>C
|
rs375383865
|
0.01150
|
NM_022081.6(HPS4):c.*1528T>G
|
rs7292764
|
0.00979
|
NM_000133.4(F9):c.*799A>T
|
rs772966694
|
0.00978
|
NM_000552.5(VWF):c.7698G>A (p.Lys2566=)
|
rs16932285
|
0.00947
|
NM_000136.3(FANCC):c.*96A>G
|
rs55687573
|
0.00893
|
NM_001375808.2(LPIN2):c.*438C>T
|
rs150379164
|
0.00868
|
NM_000096.4(CP):c.*509A>C
|
rs13098532
|
0.00867
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
NM_000129.4(F13A1):c.*587G>A
|
rs75981686
|
0.00859
|
NM_001994.3(F13B):c.1049A>G (p.His350Arg)
|
rs5999
|
0.00858
|
NM_022081.6(HPS4):c.*477C>T
|
rs76496430
|
0.00851
|
NM_022081.6(HPS4):c.*1207T>C
|
rs534698074
|
0.00842
|
NM_000552.5(VWF):c.5277C>T (p.Asp1759=)
|
rs41276736
|
0.00826
|
NM_022081.6(HPS4):c.*1225T>C
|
rs886057311
|
0.00821
|
NM_000552.5(VWF):c.7887+12T>C
|
rs55687637
|
0.00814
|
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)
|
rs148912436
|
0.00813
|
NM_001994.3(F13B):c.765C>T (p.Cys255=)
|
rs5994
|
0.00807
|
NM_138477.4(CDAN1):c.-14G>A
|
rs190314153
|
0.00804
|
NM_001994.3(F13B):c.570G>A (p.Lys190=)
|
rs17514253
|
0.00792
|
NM_001994.3(F13B):c.1586T>C (p.Leu529Pro)
|
rs17549671
|
0.00764
|
NM_022081.6(HPS4):c.*1223T>C
|
rs1367343497
|
0.00724
|
NM_003126.4(SPTA1):c.3037-14T>C
|
rs142102801
|
0.00723
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=)
|
rs34446973
|
0.00709
|
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
NM_006846.4(SPINK5):c.*358A>G
|
rs527953668
|
0.00689
|
NM_006363.5(SEC23B):c.-52T>G
|
rs191103191
|
0.00681
|
NM_022081.6(HPS4):c.*1762G>A
|
rs139974836
|
0.00680
|
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)
|
rs116297260
|
0.00678
|
NM_012092.4(ICOS):c.*995C>T
|
rs190590580
|
0.00677
|
NM_000130.5(F5):c.*1488T>C
|
rs75764442
|
0.00676
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
NM_000128.4(F11):c.*551A>T
|
rs186377697
|
0.00654
|
NM_000506.5(F2):c.813C>T (p.Gly271=)
|
rs5899
|
0.00654
|
NM_000552.5(VWF):c.391G>A (p.Gly131Ser)
|
rs76505074
|
0.00651
|
NM_000298.6(PKLR):c.*893T>G
|
rs41264939
|
0.00637
|
NM_001994.3(F13B):c.1025T>C (p.Ile342Thr)
|
rs17514281
|
0.00637
|
NC_000016.10:g.23641315C>G
|
rs138200248
|
0.00631
|
NM_000821.7(GGCX):c.*3770T>C
|
rs141040739
|
0.00627
|
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=)
|
rs73020251
|
0.00621
|
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)
|
rs114354377
|
0.00619
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
NM_139279.6(MCFD2):c.*1995G>A
|
rs183896754
|
0.00603
|
NM_000519.3(HBD):c.-60A>T
|
rs112372029
|
0.00602
|
NM_012092.4(ICOS):c.*1094C>T
|
rs144036725
|
0.00599
|
NM_022725.4(FANCF):c.*1879T>C
|
rs45553340
|
0.00575
|
NM_019616.4(F7):c.740-10T>C
|
rs3093266
|
0.00559
|
NM_032043.3(BRIP1):c.*3489T>C
|
rs140891191
|
0.00554
|
NM_017875.4(SLC25A38):c.*431G>A
|
rs73058292
|
0.00540
|
NM_001814.6(CTSC):c.319-15C>T
|
rs45539936
|
0.00539
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_006363.5(SEC23B):c.-186G>T
|
rs138178711
|
0.00524
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_000504.4(F10):c.60C>T (p.Leu20=)
|
rs3211718
|
0.00507
|
NM_005570.4(LMAN1):c.*2359A>G
|
rs41522247
|
0.00504
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
NM_000130.5(F5):c.*1290G>A
|
rs9332677
|
0.00480
|
NM_003126.4(SPTA1):c.5834-15G>A
|
rs192889943
|
0.00480
|
NM_000081.4(LYST):c.-5C>T
|
rs141317482
|
0.00475
|
NM_000506.5(F2):c.1824C>T (p.Arg608=)
|
rs3136532
|
0.00472
|
NM_000128.4(F11):c.*404A>G
|
rs139159299
|
0.00471
|
NM_139279.6(MCFD2):c.*1111G>C
|
rs181922575
|
0.00461
|
NM_006657.3(FTCD):c.*15C>A
|
rs114980528
|
0.00458
|
NM_000129.4(F13A1):c.*966G>T
|
rs138629563
|
0.00456
|
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser)
|
rs145054175
|
0.00453
|
NM_021870.3(FGG):c.*488C>T
|
rs191297318
|
0.00453
|
NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln)
|
rs5983
|
0.00445
|
NM_001001548.3(CD36):c.*1419+202G>T
|
rs143304806
|
0.00443
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_000821.7(GGCX):c.*108G>T
|
rs886056378
|
0.00434
|
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)
|
rs138732899
|
0.00433
|
NM_000617.3(SLC11A2):c.*1058G>A
|
rs41398049
|
0.00427
|
NM_000821.7(GGCX):c.*4413T>C
|
rs144074011
|
0.00426
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
NM_139279.6(MCFD2):c.*2056T>G
|
rs145495352
|
0.00421
|
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)
|
rs35733059
|
0.00420
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_022081.6(HPS4):c.710C>T (p.Ala237Val)
|
rs77597168
|
0.00411
|
NM_000375.3(UROS):c.63+8G>A
|
rs17153575
|
0.00410
|
NM_003126.4(SPTA1):c.1600-10A>G
|
rs148156245
|
0.00410
|
NM_003126.4(SPTA1):c.*68C>G
|
rs186892978
|
0.00406
|
NM_183235.3(RAB27A):c.*1863C>T
|
rs566144766
|
0.00405
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)
|
rs62001052
|
0.00398
|
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)
|
rs145613857
|
0.00391
|
NM_183235.3(RAB27A):c.*1878T>C
|
rs552625680
|
0.00389
|
NM_018389.5(SLC35C1):c.-88T>G
|
rs546865255
|
0.00386
|
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)
|
rs144149294
|
0.00385
|
NM_000212.3(ITGB3):c.*1959C>T
|
rs192215916
|
0.00384
|
NM_022081.6(HPS4):c.*1237C>T
|
rs886057305
|
0.00384
|
NM_000130.5(F5):c.4035A>G (p.Gln1345=)
|
rs886045547
|
0.00377
|
NM_000313.4(PROS1):c.*693G>A
|
rs189450409
|
0.00369
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
NM_005570.4(LMAN1):c.*57G>A
|
rs41355245
|
0.00366
|
NM_006996.2(SLC19A2):c.-196C>A
|
rs72542444
|
0.00366
|
NM_000361.3(THBD):c.*1469C>T
|
rs3176124
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000130.5(F5):c.6309G>A (p.Leu2103=)
|
rs35369423
|
0.00361
|
NM_012092.4(ICOS):c.*1300C>T
|
rs181937379
|
0.00360
|
NM_000129.4(F13A1):c.2169C>T (p.Asp723=)
|
rs5989
|
0.00357
|
NM_032043.3(BRIP1):c.*4040T>A
|
rs111580456
|
0.00356
|
NM_012092.4(ICOS):c.58+9T>G
|
rs140049646
|
0.00348
|
NM_018389.5(SLC35C1):c.-653C>T
|
rs150274138
|
0.00348
|
NM_000504.4(F10):c.424G>A (p.Glu142Lys)
|
rs61753266
|
0.00347
|
NM_000195.5(HPS1):c.*252C>T
|
rs552596275
|
0.00346
|
NM_000289.6(PFKM):c.*411G>A
|
rs79507126
|
0.00345
|
NM_000373.4(UMPS):c.*868del
|
rs570945751
|
0.00329
|
NM_022725.4(FANCF):c.*708C>T
|
rs61889392
|
0.00321
|
NM_212550.5(BLOC1S3):c.*155_*156insAA
|
rs570559399
|
0.00320
|
NM_139279.6(MCFD2):c.*1415C>T
|
rs147096932
|
0.00317
|
NM_001375808.2(LPIN2):c.*806C>T
|
rs144349249
|
0.00316
|
NM_000313.4(PROS1):c.1021G>A (p.Ala341Thr)
|
rs189883848
|
0.00312
|
NM_002693.3(POLG):c.3644-72C>A
|
rs1801377
|
0.00312
|
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)
|
rs199598260
|
0.00310
|
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)
|
rs183647059
|
0.00307
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_000130.5(F5):c.2906A>G (p.Asn969Ser)
|
rs9332604
|
0.00302
|
NM_000119.2(EPB42):c.*82G>A
|
rs148274379
|
0.00299
|
NM_000130.5(F5):c.*891A>G
|
rs9332674
|
0.00298
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)
|
rs34211240
|
0.00291
|
NM_000130.5(F5):c.3751T>C (p.Leu1251=)
|
rs1403856375
|
0.00287
|
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
|
rs45594632
|
0.00285
|
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=)
|
rs141379070
|
0.00284
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_001994.3(F13B):c.1902G>A (p.Met634Ile)
|
rs142886126
|
0.00281
|
NM_000313.4(PROS1):c.*783C>T
|
rs137965257
|
0.00279
|
NM_032043.3(BRIP1):c.*128A>G
|
rs150444311
|
0.00277
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu)
|
rs149677540
|
0.00276
|
NM_020661.4(AICDA):c.*446G>A
|
rs104894982
|
0.00275
|
NM_001243177.4(ALDOA):c.*136C>T
|
rs191226606
|
0.00274
|
NM_001375808.2(LPIN2):c.-10+1206A>T
|
rs112648131
|
0.00272
|
NM_020661.4(AICDA):c.428-4_428-3insT
|
rs755095913
|
0.00272
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_021870.3(FGG):c.*496A>C
|
rs187316301
|
0.00268
|
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)
|
rs200330662
|
0.00264
|
NM_000136.3(FANCC):c.-225C>T
|
rs182633348
|
0.00262
|
NM_017875.4(SLC25A38):c.*304C>T
|
rs113251543
|
0.00262
|
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=)
|
rs373828157
|
0.00260
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
NM_000373.4(UMPS):c.*4623C>T
|
rs75775614
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000552.5(VWF):c.1596C>T (p.Gly532=)
|
rs111240043
|
0.00251
|
NM_003126.4(SPTA1):c.798A>G (p.Leu266=)
|
rs36058424
|
0.00250
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_019616.4(F7):c.739+7A>G
|
rs519650
|
0.00249
|
NM_139279.6(MCFD2):c.*2848C>T
|
rs142254354
|
0.00248
|
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=)
|
rs77182042
|
0.00243
|
NM_000552.5(VWF):c.114C>T (p.Phe38=)
|
rs2229443
|
0.00241
|
NM_000384.3(APOB):c.3843C>T (p.Ser1281=)
|
rs72653079
|
0.00240
|
NM_000505.4(F12):c.1018+13G>C
|
rs552424629
|
0.00239
|
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu)
|
rs73846070
|
0.00238
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
NM_005476.7(GNE):c.*1660A>G
|
rs185870650
|
0.00237
|
NM_000211.5(ITGB2):c.525C>T (p.Thr175=)
|
rs200134130
|
0.00236
|
NM_000212.3(ITGB3):c.*1714T>C
|
rs187420016
|
0.00235
|
NM_000211.5(ITGB2):c.*168G>T
|
rs755328937
|
0.00233
|
NM_080669.6(SLC46A1):c.*4729del
|
rs559270240
|
0.00232
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_139279.6(MCFD2):c.*517C>G
|
rs761766519
|
0.00228
|
NM_000130.5(F5):c.*581C>A
|
rs180742904
|
0.00227
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
NM_001018115.3(FANCD2):c.4281+398G>C
|
rs34092072
|
0.00225
|
NM_001114134.2(EPB42):c.894C>T (p.Thr298=)
|
rs35719500
|
0.00225
|
NM_138477.4(CDAN1):c.2542-4C>G
|
rs147426809
|
0.00225
|
NM_000136.3(FANCC):c.*450G>A
|
rs149227790
|
0.00224
|
NM_032844.4(MASTL):c.-170C>T
|
rs554557381
|
0.00224
|
NM_032844.4(MASTL):c.-157C>T
|
rs574340842
|
0.00223
|
NM_032844.4(MASTL):c.-226G>A
|
rs566954562
|
0.00223
|
NM_000821.7(GGCX):c.*338T>C
|
rs539761806
|
0.00222
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
NM_005570.4(LMAN1):c.*753T>C
|
rs182108487
|
0.00219
|
NM_019616.4(F7):c.*410C>T
|
rs139474305
|
0.00218
|
NM_152564.5(VPS13B):c.*61G>A
|
rs189939258
|
0.00218
|
NM_000129.4(F13A1):c.1032T>C (p.Asp344=)
|
rs142274716
|
0.00215
|
NM_001375808.2(LPIN2):c.-10+1256G>A
|
rs181504392
|
0.00215
|
NM_001001547.3(CD36):c.-287G>A
|
rs190767214
|
0.00213
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
NM_000313.4(PROS1):c.*686G>A
|
rs550909963
|
0.00211
|
NM_001386140.1(MTTP):c.*382T>C
|
rs556994625
|
0.00210
|
NM_000136.3(FANCC):c.*2524G>A
|
rs56199232
|
0.00208
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_139279.6(MCFD2):c.*84T>C
|
rs182576601
|
0.00207
|
NM_001114134.2(EPB42):c.453T>C (p.Asn151=)
|
rs114136713
|
0.00205
|
NM_152564.5(VPS13B):c.*1355T>G
|
rs562826355
|
0.00204
|
NM_000355.4(TCN2):c.64+11C>T
|
rs141519384
|
0.00203
|
NM_018389.5(SLC35C1):c.*1322A>G
|
rs148127105
|
0.00203
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
NM_000211.5(ITGB2):c.162G>A (p.Pro54=)
|
rs138303556
|
0.00201
|
NM_015175.3(NBEAL2):c.*333G>A
|
rs538183501
|
0.00200
|
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg)
|
rs201641746
|
0.00197
|
NM_203447.4(DOCK8):c.4024-4C>T
|
rs111306749
|
0.00196
|
NM_181507.2(HPS5):c.-75A>G
|
rs193106100
|
0.00192
|
NM_000506.5(F2):c.1298+11G>C
|
rs144587241
|
0.00191
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_000130.5(F5):c.*216T>A
|
rs186962725
|
0.00188
|
NM_000130.5(F5):c.*396C>A
|
rs181328696
|
0.00188
|
NM_000130.5(F5):c.*363T>G
|
rs115882472
|
0.00187
|
NM_000552.5(VWF):c.2103C>T (p.Cys701=)
|
rs78995469
|
0.00185
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_012092.4(ICOS):c.*1854G>A
|
rs140979765
|
0.00184
|
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys)
|
rs147435410
|
0.00184
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_025215.5(PUS1):c.-453C>T
|
rs551126678
|
0.00180
|
NM_000373.4(UMPS):c.*1517C>A
|
rs74477033
|
0.00179
|
NM_002473.5(MYH9):c.-182G>T
|
rs868824019
|
0.00179
|
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)
|
rs143711562
|
0.00178
|
NM_018389.5(SLC35C1):c.-633T>G
|
rs566857902
|
0.00177
|
NM_080669.6(SLC46A1):c.*1795C>T
|
rs200529579
|
0.00177
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
NM_000821.7(GGCX):c.*1245G>C
|
rs190566964
|
0.00175
|
NM_001994.3(F13B):c.1163A>T (p.Glu388Val)
|
rs5991
|
0.00175
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_172351.3(CD46):c.285T>C (p.Tyr95=)
|
rs112089594
|
0.00175
|
NM_000096.4(CP):c.*1081T>A
|
rs188137938
|
0.00174
|
NM_000129.4(F13A1):c.*208T>C
|
rs192234804
|
0.00173
|
NM_002693.3(POLG):c.3644-184T>C
|
rs115758754
|
0.00173
|
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu)
|
rs139391329
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_080669.6(SLC46A1):c.*2724G>C
|
rs139343092
|
0.00170
|
NM_000602.5(SERPINE1):c.*1388G>A
|
rs71557295
|
0.00169
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
NM_001754.5(RUNX1):c.*3721A>T
|
rs188246960
|
0.00168
|
NM_000298.6(PKLR):c.*14C>T
|
rs8177994
|
0.00166
|
NM_005141.5(FGB):c.*846T>G
|
rs541828079
|
0.00166
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
NM_000373.4(UMPS):c.*4511G>A
|
rs569255721
|
0.00165
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_080669.6(SLC46A1):c.*4661G>A
|
rs575926704
|
0.00163
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
NM_181507.2(HPS5):c.309A>G (p.Glu103=)
|
rs77722090
|
0.00163
|
NM_000096.4(CP):c.*40C>T
|
rs112764171
|
0.00162
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_000289.5(PFKM):c.-177G>C
|
rs78512814
|
0.00162
|
NM_005373.3(MPL):c.*914C>T
|
rs186474263
|
0.00162
|
NM_000174.5(GP9):c.-124C>T
|
rs144100272
|
0.00161
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_001081.4(CUBN):c.*436C>A
|
rs574512019
|
0.00159
|
NM_003126.4(SPTA1):c.5118C>T (p.His1706=)
|
rs200945419
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000312.4(PROC):c.*146T>C
|
rs140461934
|
0.00158
|
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg)
|
rs36080296
|
0.00155
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_001114134.2(EPB42):c.430+12C>T
|
rs185794093
|
0.00155
|
NM_022725.4(FANCF):c.*1440A>G
|
rs191742011
|
0.00155
|
NM_005141.5(FGB):c.*233G>T
|
rs539731011
|
0.00154
|
NM_000128.4(F11):c.1305-9G>T
|
rs4253426
|
0.00153
|
NM_006947.4(SRP72):c.*221A>G
|
rs149250989
|
0.00152
|
NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val)
|
rs139563689
|
0.00151
|
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)
|
rs61995897
|
0.00151
|
NM_183235.3(RAB27A):c.-93G>T
|
rs181491869
|
0.00151
|
NM_000355.4(TCN2):c.-98T>G
|
rs370882214
|
0.00150
|
NM_001001548.3(CD36):c.591A>T (p.Thr197=)
|
rs141680676
|
0.00150
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_000222.3(KIT):c.*252G>T
|
rs376694515
|
0.00148
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
0.00148
|
NM_001375808.2(LPIN2):c.*100G>A
|
rs564971189
|
0.00147
|
NM_015175.3(NBEAL2):c.*267G>C
|
rs769202844
|
0.00147
|
NM_000136.3(FANCC):c.*1483T>C
|
rs552548603
|
0.00146
|
NM_003126.4(SPTA1):c.*387T>C
|
rs549664412
|
0.00146
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=)
|
rs145155499
|
0.00145
|
NM_138477.4(CDAN1):c.*722G>A
|
rs528323093
|
0.00145
|
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)
|
rs6011
|
0.00144
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_019616.4(F7):c.*605G>A
|
rs144204350
|
0.00144
|
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)
|
rs17853184
|
0.00144
|
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile)
|
rs139573207
|
0.00142
|
NM_002203.4(ITGA2):c.*3409A>G
|
rs542924934
|
0.00142
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_024675.4(PALB2):c.*232G>T
|
rs180748355
|
0.00141
|
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)
|
rs140051968
|
0.00141
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)
|
rs6007
|
0.00140
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=)
|
rs149992222
|
0.00139
|
NM_032383.5(HPS3):c.*98A>T
|
rs113951847
|
0.00139
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
NM_001040436.3(YARS2):c.*126_*127del
|
rs141873255
|
0.00137
|
NM_002473.6(MYH9):c.*1204A>T
|
rs56360445
|
0.00137
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln)
|
rs149918318
|
0.00136
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
NM_006996.3(SLC19A2):c.*1246T>G
|
rs181914254
|
0.00135
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
NM_005141.5(FGB):c.298C>T (p.Pro100Ser)
|
rs2227434
|
0.00134
|
NM_000996.4(RPL35A):c.-33G>A
|
rs564722971
|
0.00133
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys)
|
rs190657753
|
0.00132
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
NM_001375808.2(LPIN2):c.*251C>T
|
rs563023966
|
0.00131
|
NM_001994.3(F13B):c.*162C>A
|
rs180977741
|
0.00131
|
NM_032844.4(MASTL):c.-568G>A
|
rs41282214
|
0.00131
|
NM_000821.7(GGCX):c.-46C>T
|
rs376371398
|
0.00130
|
NM_005570.4(LMAN1):c.*416C>T
|
rs140370262
|
0.00130
|
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
|
rs201373710
|
0.00130
|
NM_018947.6(CYCS):c.*4524del
|
rs754793722
|
0.00130
|
NM_139027.6(ADAMTS13):c.1245-3C>T
|
rs36219902
|
0.00130
|
NM_001250.6(CD40):c.*547A>T
|
rs184942163
|
0.00129
|
NM_000355.4(TCN2):c.*381T>G
|
rs149713328
|
0.00128
|
NM_001770.6(CD19):c.1580-4C>A
|
rs148808609
|
0.00128
|
NM_025215.6(PUS1):c.545-7C>T
|
rs201541270
|
0.00128
|
NM_000365.6(TPI1):c.*219C>T
|
rs376899563
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000195.5(HPS1):c.*719T>C
|
rs557194861
|
0.00125
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
NM_001113378.2(FANCI):c.753C>T (p.Asp251=)
|
rs151169233
|
0.00124
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
NM_012092.4(ICOS):c.*1137C>T
|
rs531066269
|
0.00123
|
NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys)
|
rs140014115
|
0.00123
|
NM_000298.6(PKLR):c.*1067T>C
|
rs559809916
|
0.00122
|
NM_203447.4(DOCK8):c.-58C>T
|
rs144097790
|
0.00122
|
NM_000130.5(F5):c.-40T>C
|
rs41272465
|
0.00121
|
NM_000373.4(UMPS):c.*4755G>A
|
rs189776179
|
0.00121
|
NM_000506.5(F2):c.1628G>T (p.Arg543Leu)
|
rs143064939
|
0.00121
|
NM_017875.4(SLC25A38):c.-161G>A
|
rs528990278
|
0.00120
|
NM_139279.6(MCFD2):c.*2423A>G
|
rs139408737
|
0.00120
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_000373.4(UMPS):c.495G>A (p.Ala165=)
|
rs75971351
|
0.00119
|
NM_001114134.2(EPB42):c.10+79G>A
|
rs149249456
|
0.00119
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_080911.3(UNG):c.*699T>C
|
rs762462658
|
0.00119
|
NM_203447.4(DOCK8):c.*1014T>C
|
rs530493285
|
0.00119
|
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn)
|
rs141728916
|
0.00118
|
NM_019616.4(F7):c.785G>A (p.Arg262Gln)
|
rs77121822
|
0.00118
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
NM_000602.5(SERPINE1):c.-20G>C
|
rs36228265
|
0.00116
|
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)
|
rs187932146
|
0.00116
|
NM_080669.6(SLC46A1):c.*4636C>T
|
rs886052737
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_001171506.2(MCFD2):c.*3591C>G
|
rs78040887
|
0.00115
|
NM_001374504.1(TMPRSS6):c.838G>T (p.Val280Leu)
|
rs201148397
|
0.00114
|
NM_001375808.2(LPIN2):c.*903T>A
|
rs78462116
|
0.00114
|
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)
|
rs200860772
|
0.00114
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
NM_019616.4(F7):c.*1359G>A
|
rs548802710
|
0.00113
|
NM_019616.4(F7):c.1267G>A (p.Glu423Lys)
|
rs3093248
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_001374504.1(TMPRSS6):c.*499C>T
|
rs560949530
|
0.00112
|
NM_183235.3(RAB27A):c.*370T>C
|
rs144322660
|
0.00112
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
NM_000373.4(UMPS):c.*4895A>G
|
rs142288742
|
0.00111
|
NM_001081.4(CUBN):c.5967G>C (p.Val1989=)
|
rs139153235
|
0.00111
|
NM_001375808.2(LPIN2):c.*1418G>A
|
rs552844041
|
0.00111
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_000552.5(VWF):c.6756G>A (p.Glu2252=)
|
rs71581020
|
0.00110
|
NM_003126.4(SPTA1):c.174C>T (p.Phe58=)
|
rs190704778
|
0.00110
|
NM_139279.6(MCFD2):c.*3272A>G
|
rs148722702
|
0.00110
|
NM_018389.5(SLC35C1):c.*647T>C
|
rs372196593
|
0.00109
|
NM_080669.6(SLC46A1):c.*1831C>A
|
rs41297915
|
0.00109
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
NM_000552.5(VWF):c.7082-13G>C
|
rs71581025
|
0.00108
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_015175.3(NBEAL2):c.5664C>T (p.Pro1888=)
|
rs375399942
|
0.00108
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
NM_152564.5(VPS13B):c.*202T>A
|
rs201566966
|
0.00108
|
NM_000128.4(F11):c.861C>T (p.Ile287=)
|
rs5964
|
0.00107
|
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)
|
rs45495503
|
0.00107
|
NM_019616.4(F7):c.*285G>A
|
rs577927838
|
0.00107
|
NM_181507.2(HPS5):c.2562-14G>C
|
rs199999276
|
0.00107
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
NM_000504.4(F10):c.1032C>T (p.Pro344=)
|
rs41286610
|
0.00106
|
NM_019616.4(F7):c.*71T>A
|
rs143748941
|
0.00106
|
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)
|
rs189103810
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)
|
rs140085544
|
0.00105
|
NM_000130.5(F5):c.*441C>T
|
rs188490117
|
0.00105
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=)
|
rs140134223
|
0.00105
|
NM_203447.4(DOCK8):c.550G>A (p.Val184Met)
|
rs143461644
|
0.00105
|
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)
|
rs149091258
|
0.00104
|
NM_002473.6(MYH9):c.*645C>G
|
rs527539496
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
NM_021870.3(FGG):c.*500C>T
|
rs183036893
|
0.00103
|
NM_000174.5(GP9):c.*38C>T
|
rs774275281
|
0.00102
|
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
|
rs149190846
|
0.00102
|
NM_015175.3(NBEAL2):c.6023C>T (p.Thr2008Met)
|
rs201015564
|
0.00102
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
NM_139279.6(MCFD2):c.*64T>C
|
rs754447509
|
0.00102
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)
|
rs368544526
|
0.00101
|
NM_080669.6(SLC46A1):c.*1839G>A
|
rs41297917
|
0.00101
|
NM_000128.4(F11):c.1020C>T (p.Asn340=)
|
rs149052026
|
0.00100
|
NM_000096.3(CP):c.-183T>C
|
rs185578646
|
0.00099
|
NM_000821.7(GGCX):c.*4562G>A
|
rs113066451
|
0.00099
|
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe)
|
rs142818579
|
0.00099
|
NM_006206.6(PDGFRA):c.*534A>G
|
rs566508858
|
0.00099
|
NM_080669.6(SLC46A1):c.*1981C>G
|
rs41297919
|
0.00099
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
NM_025215.6(PUS1):c.1140C>T (p.Thr380=)
|
rs138198591
|
0.00098
|
NM_080911.3(UNG):c.*109A>G
|
rs533948770
|
0.00098
|
NM_000212.3(ITGB3):c.754A>G (p.Ile252Val)
|
rs56173532
|
0.00097
|
NM_032383.5(HPS3):c.51C>T (p.Pro17=)
|
rs141883346
|
0.00097
|
NM_000129.4(F13A1):c.*270C>T
|
rs568780978
|
0.00096
|
NM_000136.3(FANCC):c.*667C>T
|
rs150462386
|
0.00096
|
NM_000602.5(SERPINE1):c.*425T>C
|
rs148235544
|
0.00096
|
NM_000821.7(GGCX):c.1743G>A (p.Leu581=)
|
rs56165933
|
0.00096
|
NM_001063.4(TF):c.1027C>T (p.Arg343Trp)
|
rs150854910
|
0.00096
|
NM_017875.4(SLC25A38):c.*490G>A
|
rs150889211
|
0.00096
|
NM_019616.4(F7):c.*1385T>C
|
rs561442830
|
0.00096
|
NM_005476.7(GNE):c.-102G>C
|
rs1053014986
|
0.00095
|
NM_003126.4(SPTA1):c.3715-11T>C
|
rs147184530
|
0.00094
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
NM_000342.4(SLC4A1):c.*353G>C
|
rs571581247
|
0.00093
|
NM_001770.6(CD19):c.395T>G (p.Leu132Arg)
|
rs146795664
|
0.00093
|
NM_032043.3(BRIP1):c.*2337A>T
|
rs373664066
|
0.00093
|
NM_139279.6(MCFD2):c.*1314C>T
|
rs150644996
|
0.00093
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000375.3(UROS):c.475+14T>A
|
rs17425877
|
0.00091
|
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
0.00091
|
NM_000617.3(SLC11A2):c.*11G>A
|
rs201382454
|
0.00091
|
NM_000821.7(GGCX):c.*3192C>T
|
rs150878929
|
0.00091
|
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=)
|
rs147730705
|
0.00091
|
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)
|
rs140524729
|
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_138387.4(G6PC3):c.*97G>C
|
rs565305947
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_000129.4(F13A1):c.*1253T>C
|
rs1803604
|
0.00090
|
NM_000135.4(FANCA):c.*172G>A
|
rs577149121
|
0.00090
|
NM_000821.7(GGCX):c.159C>A (p.Thr53=)
|
rs61733104
|
0.00090
|
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
|
rs143531829
|
0.00090
|
NM_032043.3(BRIP1):c.*3188G>A
|
rs369850537
|
0.00090
|
NM_000037.4(ANK1):c.*2123G>T
|
rs560472367
|
0.00089
|
NM_000174.5(GP9):c.368C>T (p.Pro123Leu)
|
rs202229101
|
0.00089
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_003126.4(SPTA1):c.3108C>T (p.His1036=)
|
rs34886778
|
0.00089
|
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)
|
rs150926439
|
0.00089
|
NM_032043.3(BRIP1):c.*132G>A
|
rs143361598
|
0.00089
|
NM_173842.3(IL1RN):c.*644del
|
rs757094565
|
0.00089
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His)
|
rs200622688
|
0.00088
|
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe)
|
rs201837257
|
0.00088
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
NM_000135.4(FANCA):c.*843C>T
|
rs201316239
|
0.00086
|
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=)
|
rs145569358
|
0.00086
|
NM_001374504.1(TMPRSS6):c.183G>A (p.Val61=)
|
rs150521260
|
0.00086
|
NM_002203.4(ITGA2):c.*613C>T
|
rs537086711
|
0.00086
|
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=)
|
rs143780369
|
0.00086
|
NM_022081.6(HPS4):c.888C>T (p.Asn296=)
|
rs138343171
|
0.00086
|
NM_000821.7(GGCX):c.*1725C>A
|
rs184184818
|
0.00085
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys)
|
rs147238010
|
0.00084
|
NM_001770.6(CD19):c.147G>A (p.Gln49=)
|
rs140445039
|
0.00084
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_000129.4(F13A1):c.160T>A (p.Phe54Ile)
|
rs138690353
|
0.00083
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
NM_198253.3(TERT):c.1849C>T (p.Leu617=)
|
rs140951453
|
0.00083
|
NM_203447.4(DOCK8):c.*99G>A
|
rs554634853
|
0.00083
|
NM_000505.4(F12):c.1018+12G>C
|
rs758462343
|
0.00082
|
NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=)
|
rs142570561
|
0.00082
|
NM_000130.5(F5):c.*598T>G
|
rs544753372
|
0.00081
|
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)
|
rs144262027
|
0.00081
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_000505.4(F12):c.348C>A (p.Gly116=)
|
rs140243617
|
0.00081
|
NM_000619.3(IFNG):c.183+15C>G
|
rs199708992
|
0.00081
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_020661.4(AICDA):c.*67C>T
|
rs149095678
|
0.00081
|
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=)
|
rs188529539
|
0.00081
|
NM_001018115.3(FANCD2):c.1656+14T>A
|
rs200473919
|
0.00080
|
NM_012092.4(ICOS):c.*1948G>T
|
rs777338223
|
0.00080
|
NM_080669.6(SLC46A1):c.*835A>G
|
rs181698246
|
0.00080
|
NM_000212.3(ITGB3):c.*271C>G
|
rs189009415
|
0.00078
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
0.00078
|
NM_022081.5(HPS4):c.-628C>G
|
rs56821996
|
0.00078
|
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)
|
rs144832924
|
0.00078
|
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)
|
rs144808448
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_000136.3(FANCC):c.*983C>T
|
rs56059656
|
0.00077
|
NM_000602.5(SERPINE1):c.*891C>T
|
rs550508703
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_000059.4(BRCA2):c.*753C>T
|
rs190094748
|
0.00076
|
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)
|
rs200532195
|
0.00076
|
NM_000506.5(F2):c.843C>T (p.Gly281=)
|
rs147699032
|
0.00076
|
NM_001001547.3(CD36):c.-193C>G
|
rs182279912
|
0.00076
|
NM_001114134.2(EPB42):c.*21T>A
|
rs201342599
|
0.00076
|
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)
|
rs188875641
|
0.00076
|
NM_025215.6(PUS1):c.1008G>A (p.Glu336=)
|
rs145430883
|
0.00076
|
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His)
|
rs150657573
|
0.00076
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)
|
rs141977229
|
0.00075
|
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly)
|
rs148963479
|
0.00075
|
NM_000821.7(GGCX):c.*3647A>G
|
rs541759232
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
|
rs138877178
|
0.00074
|
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn)
|
rs140804035
|
0.00074
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_000081.4(LYST):c.10235G>A (p.Arg3412His)
|
rs148409403
|
0.00073
|
NM_000505.4(F12):c.120C>T (p.Leu40=)
|
rs149368999
|
0.00073
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
NM_006947.4(SRP72):c.*194G>A
|
rs188713088
|
0.00073
|
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=)
|
rs369906164
|
0.00073
|
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)
|
rs148606857
|
0.00073
|
NM_052945.4(TNFRSF13C):c.368-15C>A
|
rs372331667
|
0.00073
|
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser)
|
rs151243201
|
0.00073
|
NM_139027.6(ADAMTS13):c.2580C>T (p.Val860=)
|
rs147112200
|
0.00073
|
NM_001063.4(TF):c.228G>A (p.Ala76=)
|
rs140381335
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_000821.7(GGCX):c.789C>T (p.Asp263=)
|
rs146085955
|
0.00071
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_012092.4(ICOS):c.*1416G>T
|
rs56259923
|
0.00071
|
NM_022081.6(HPS4):c.*769G>A
|
rs187297219
|
0.00071
|
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)
|
rs5038
|
0.00070
|
NM_000619.3(IFNG):c.114+11C>T
|
rs200610212
|
0.00070
|
NM_000821.7(GGCX):c.529A>G (p.Asn177Asp)
|
rs149039591
|
0.00070
|
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile)
|
rs141737312
|
0.00070
|
NM_001114134.2(EPB42):c.10+60C>T
|
rs144428415
|
0.00070
|
NM_005476.7(GNE):c.*1728C>T
|
rs41277097
|
0.00070
|
NM_019616.4(F7):c.*498C>T
|
rs557431193
|
0.00070
|
NM_139279.6(MCFD2):c.-7+11T>A
|
rs201752014
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_203447.4(DOCK8):c.541C>G (p.His181Asp)
|
rs200684000
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_001040436.3(YARS2):c.*360A>G
|
rs567955032
|
0.00069
|
NM_001770.6(CD19):c.836-13C>G
|
rs371868433
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu)
|
rs142934882
|
0.00068
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
NM_005570.4(LMAN1):c.*2637T>C
|
rs769626957
|
0.00068
|
NM_152564.5(VPS13B):c.*831C>T
|
rs547185676
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_000128.4(F11):c.*822A>G
|
rs558079340
|
0.00067
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00067
|
NM_001081.4(CUBN):c.*782G>A
|
rs570478432
|
0.00067
|
NM_018389.4(SLC35C1):c.-657C>A
|
rs550333679
|
0.00067
|
NM_000130.5(F5):c.1785G>A (p.Glu595=)
|
rs112333778
|
0.00066
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
NM_000619.3(IFNG):c.-5A>G
|
rs181407537
|
0.00066
|
NM_001001548.3(CD36):c.879T>C (p.Phe293=)
|
rs188717259
|
0.00066
|
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)
|
rs148081315
|
0.00066
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
0.00065
|
NM_000212.3(ITGB3):c.2131C>T (p.Pro711Ser)
|
rs138729147
|
0.00065
|
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)
|
rs78165611
|
0.00065
|
NM_000433.4(NCF2):c.*517dup
|
rs573207861
|
0.00065
|
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His)
|
rs199797249
|
0.00065
|
NM_019616.4(F7):c.*499G>A
|
rs575689457
|
0.00065
|
NM_000373.4(UMPS):c.*3359G>T
|
rs752390899
|
0.00064
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_001375808.2(LPIN2):c.*1027G>A
|
rs551503883
|
0.00064
|
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln)
|
rs180696183
|
0.00064
|
NM_012092.4(ICOS):c.375A>G (p.Gly125=)
|
rs768500706
|
0.00064
|
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)
|
rs142420345
|
0.00064
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=)
|
rs148365271
|
0.00064
|
NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=)
|
rs144178018
|
0.00064
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
NM_000037.4(ANK1):c.*665C>T
|
rs547095997
|
0.00063
|
NM_000130.5(F5):c.*1912C>T
|
rs865812546
|
0.00063
|
NM_000505.4(F12):c.1107G>C (p.Ser369=)
|
rs141473119
|
0.00063
|
NM_001754.5(RUNX1):c.*3021A>G
|
rs547268403
|
0.00063
|
NM_005570.4(LMAN1):c.*652T>C
|
rs185861958
|
0.00063
|
NM_019616.4(F7):c.586G>A (p.Val196Met)
|
rs139309572
|
0.00063
|
NM_032383.5(HPS3):c.*96TC[3]
|
rs1553756780
|
0.00063
|
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
|
rs146408488
|
0.00062
|
NM_021922.3(FANCE):c.-126T>A
|
rs930863473
|
0.00062
|
NM_000130.5(F5):c.5589C>A (p.Pro1863=)
|
rs148772659
|
0.00061
|
NM_000419.5(ITGA2B):c.799+15C>T
|
rs374469971
|
0.00061
|
NM_002693.3(POLG):c.*63A>G
|
rs552236933
|
0.00061
|
NM_005570.4(LMAN1):c.1221-4T>C
|
rs200829791
|
0.00061
|
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln)
|
rs140354422
|
0.00061
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)
|
rs587778335
|
0.00061
|
NM_032444.4(SLX4):c.339T>C (p.Ser113=)
|
rs144326379
|
0.00061
|
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=)
|
rs149472555
|
0.00061
|
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
NM_203447.4(DOCK8):c.5962-8C>T
|
rs749575443
|
0.00061
|
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)
|
rs150576611
|
0.00060
|
NM_001001548.3(CD36):c.1133G>T (p.Gly378Val)
|
rs146027667
|
0.00060
|
NM_006563.5(KLF1):c.478G>A (p.Glu160Lys)
|
rs772655521
|
0.00060
|
NM_032383.5(HPS3):c.*96T>A
|
rs879086473
|
0.00060
|
NM_032383.5(HPS3):c.1152C>T (p.His384=)
|
rs113381494
|
0.00060
|
NM_000195.5(HPS1):c.*943C>T
|
rs558066370
|
0.00059
|
NM_000312.4(PROC):c.30C>T (p.Phe10=)
|
rs148490199
|
0.00059
|
NM_000373.4(UMPS):c.*2552A>G
|
rs548237479
|
0.00059
|
NM_001430.5(EPAS1):c.*833G>A
|
rs539023852
|
0.00059
|
NM_005570.4(LMAN1):c.*2021A>C
|
rs140144803
|
0.00059
|
NM_006563.5(KLF1):c.*367C>G
|
rs375799978
|
0.00059
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)
|
rs144273492
|
0.00059
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
NM_000373.4(UMPS):c.*1050C>T
|
rs186445088
|
0.00058
|
NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser)
|
rs148129773
|
0.00058
|
NM_005141.5(FGB):c.115-12C>T
|
rs187641148
|
0.00058
|
NM_006206.6(PDGFRA):c.*2496A>G
|
rs184179322
|
0.00058
|
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=)
|
rs200884153
|
0.00058
|
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)
|
rs199965734
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_183235.3(RAB27A):c.*2343G>C
|
rs141632141
|
0.00057
|
NM_203447.4(DOCK8):c.2971-4G>A
|
rs186097329
|
0.00057
|
NM_203447.4(DOCK8):c.5962-9T>C
|
rs1324502895
|
0.00057
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
NM_000506.5(F2):c.1541A>G (p.Asn514Ser)
|
rs144011338
|
0.00056
|
NM_001113378.1(FANCI):c.-90T>C
|
rs559714713
|
0.00056
|
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg)
|
rs139444835
|
0.00056
|
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile)
|
rs146270553
|
0.00056
|
NM_017875.4(SLC25A38):c.*305G>A
|
rs774462116
|
0.00056
|
NM_032043.3(BRIP1):c.*2070G>A
|
rs764258526
|
0.00056
|
NM_080669.6(SLC46A1):c.*1649A>G
|
rs779490495
|
0.00056
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_000136.3(FANCC):c.*1339C>T
|
rs144155068
|
0.00055
|
NM_000506.5(F2):c.1464G>A (p.Thr488=)
|
rs146742525
|
0.00055
|
NM_001001548.3(CD36):c.1404G>A (p.Ser468=)
|
rs141626483
|
0.00055
|
NM_001374504.1(TMPRSS6):c.1206C>T (p.Gly402=)
|
rs146266448
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_203447.4(DOCK8):c.5155G>A (p.Ala1719Thr)
|
rs144279637
|
0.00055
|
NM_000821.7(GGCX):c.*2408T>C
|
rs556052128
|
0.00054
|
NM_000821.7(GGCX):c.1906C>A (p.Pro636Thr)
|
rs61733105
|
0.00054
|
NM_001171506.2(MCFD2):c.-205G>C
|
rs1382510299
|
0.00054
|
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)
|
rs78598639
|
0.00054
|
NM_005476.7(GNE):c.*2679G>A
|
rs566044462
|
0.00054
|
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu)
|
rs201862124
|
0.00054
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
|
rs138810908
|
0.00054
|
NM_000129.4(F13A1):c.1860G>C (p.Leu620=)
|
rs138943514
|
0.00053
|
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser)
|
rs145180358
|
0.00053
|
NM_000130.5(F5):c.-84G>A
|
rs543172813
|
0.00053
|
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=)
|
rs200857868
|
0.00053
|
NM_000460.4(THPO):c.-56G>A
|
rs187556243
|
0.00053
|
NM_000552.5(VWF):c.1077C>T (p.Pro359=)
|
rs71582884
|
0.00053
|
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)
|
rs143736590
|
0.00053
|
NM_003664.5(AP3B1):c.3131+5G>T
|
rs191616060
|
0.00053
|
NM_005141.5(FGB):c.*450T>A
|
rs183181144
|
0.00053
|
NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=)
|
rs371768924
|
0.00053
|
NM_015175.3(NBEAL2):c.5460-13G>T
|
rs372705263
|
0.00053
|
NM_032043.3(BRIP1):c.*2667C>T
|
rs373156872
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_000132.4(F8):c.*426G>A
|
rs782273756
|
0.00052
|
NM_000821.7(GGCX):c.*2490T>C
|
rs574322048
|
0.00052
|
NM_080911.3(UNG):c.*880A>T
|
rs567806750
|
0.00052
|
NM_000135.4(FANCA):c.*937A>G
|
rs55794507
|
0.00051
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
NM_000506.5(F2):c.191C>T (p.Thr64Met)
|
rs142001812
|
0.00051
|
NM_000552.5(VWF):c.2281+13C>T
|
rs183077797
|
0.00051
|
NM_000821.7(GGCX):c.*1367C>A
|
rs559519177
|
0.00051
|
NM_001250.6(CD40):c.*178G>A
|
rs565941222
|
0.00051
|
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)
|
rs140534765
|
0.00051
|
NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg)
|
rs147071939
|
0.00051
|
NM_017875.4(SLC25A38):c.-237G>A
|
rs527536267
|
0.00051
|
NM_022725.4(FANCF):c.385C>G (p.Leu129Val)
|
rs61753271
|
0.00051
|
NM_080911.3(UNG):c.194C>T (p.Pro65Leu)
|
rs199956941
|
0.00051
|
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys)
|
rs137959302
|
0.00050
|
NM_001250.6(CD40):c.*372A>C
|
rs117490488
|
0.00050
|
NM_005570.4(LMAN1):c.1392G>A (p.Pro464=)
|
rs149932943
|
0.00050
|
NM_006363.5(SEC23B):c.-76G>C
|
rs373348732
|
0.00050
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
NM_138477.4(CDAN1):c.982G>A (p.Val328Ile)
|
rs144448301
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_198253.3(TERT):c.2106G>A (p.Pro702=)
|
rs151055240
|
0.00050
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
NM_000096.4(CP):c.2554+8C>T
|
rs749646388
|
0.00049
|
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser)
|
rs116698870
|
0.00049
|
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=)
|
rs186415745
|
0.00049
|
NM_018368.4(LMBRD1):c.-103A>G
|
rs369575833
|
0.00049
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_172351.3(CD46):c.*1111C>G
|
rs193023975
|
0.00049
|
NM_000037.4(ANK1):c.*2281C>T
|
rs545505994
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000130.5(F5):c.885C>T (p.Thr295=)
|
rs148752831
|
0.00048
|
NM_000133.4(F9):c.*293C>T
|
rs747670394
|
0.00048
|
NM_000211.5(ITGB2):c.1413-8G>A
|
rs375743879
|
0.00048
|
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)
|
rs148871144
|
0.00048
|
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)
|
rs149742998
|
0.00048
|
NM_005373.3(MPL):c.*657C>T
|
rs886046352
|
0.00048
|
NM_018947.6(CYCS):c.*5013T>C
|
rs759244161
|
0.00048
|
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)
|
rs200378626
|
0.00048
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met)
|
rs143857276
|
0.00048
|
NM_198253.3(TERT):c.2130+10G>A
|
rs373879259
|
0.00048
|
NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys)
|
rs140403518
|
0.00048
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
NM_000132.4(F8):c.*78C>T
|
rs782435894
|
0.00047
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_000460.4(THPO):c.*366G>C
|
rs542821225
|
0.00047
|
NM_000821.7(GGCX):c.*454C>T
|
rs578230076
|
0.00047
|
NM_001001548.3(CD36):c.390A>T (p.Thr130=)
|
rs148114593
|
0.00047
|
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
|
rs147630375
|
0.00047
|
NM_001375808.2(LPIN2):c.2443-9C>T
|
rs191749331
|
0.00047
|
NM_001430.5(EPAS1):c.-347T>G
|
rs192684713
|
0.00047
|
NM_001994.3(F13B):c.1089A>C (p.Ala363=)
|
rs117019969
|
0.00047
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
NM_004629.1(FANCG):c.-488G>A
|
rs752617227
|
0.00047
|
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)
|
rs200742809
|
0.00047
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln)
|
rs138936105
|
0.00046
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000174.5(GP9):c.236C>T (p.Thr79Ile)
|
rs200640594
|
0.00046
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
NM_000373.4(UMPS):c.*2410_*2412del
|
rs886057878
|
0.00046
|
NM_001081.4(CUBN):c.*734A>G
|
rs751683958
|
0.00046
|
NM_001375808.2(LPIN2):c.*2417C>T
|
rs760089028
|
0.00046
|
NM_001994.3(F13B):c.986-4T>C
|
rs76405247
|
0.00046
|
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)
|
rs145351589
|
0.00046
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
NM_019616.4(F7):c.*1475G>A
|
rs3093258
|
0.00046
|
NM_138477.4(CDAN1):c.2868C>T (p.Ala956=)
|
rs150438471
|
0.00046
|
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)
|
rs151094543
|
0.00046
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000298.6(PKLR):c.-26C>T
|
rs200181342
|
0.00045
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001374504.1(TMPRSS6):c.243C>A (p.Gly81=)
|
rs147397866
|
0.00045
|
NM_001375808.2(LPIN2):c.*520T>C
|
rs576721761
|
0.00045
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
NM_005570.4(LMAN1):c.*48G>A
|
rs148071519
|
0.00045
|
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=)
|
rs200100160
|
0.00045
|
NM_020661.4(AICDA):c.*1213A>G
|
rs751259274
|
0.00045
|
NM_022725.4(FANCF):c.633G>T (p.Gln211His)
|
rs146975768
|
0.00045
|
NM_032383.5(HPS3):c.*95A>C
|
rs1013031553
|
0.00045
|
NM_138477.4(CDAN1):c.1368-6C>T
|
rs200290322
|
0.00045
|
NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=)
|
rs146073007
|
0.00045
|
NM_174936.4(PCSK9):c.*1151del
|
rs563024336
|
0.00045
|
NM_206965.2(FTCD):c.*1C>T
|
rs144773622
|
0.00045
|
NM_000821.7(GGCX):c.*4242C>G
|
rs754152731
|
0.00044
|
NM_001375808.2(LPIN2):c.*1742A>G
|
rs551448975
|
0.00044
|
NM_001386140.1(MTTP):c.502-12C>T
|
rs200628118
|
0.00044
|
NM_002203.4(ITGA2):c.*2682T>A
|
rs775163275
|
0.00044
|
NM_005373.3(MPL):c.*871G>A
|
rs540648773
|
0.00044
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
NM_138477.4(CDAN1):c.2805-11T>A
|
rs200767055
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val)
|
rs150321124
|
0.00043
|
NM_000128.4(F11):c.*928G>A
|
rs556465646
|
0.00043
|
NM_000289.6(PFKM):c.*622G>A
|
rs568063197
|
0.00043
|
NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala)
|
rs142846443
|
0.00043
|
NM_000602.5(SERPINE1):c.1020C>T (p.Val340=)
|
rs201351580
|
0.00043
|
NM_001063.4(TF):c.43+8C>A
|
rs368521553
|
0.00043
|
NM_022081.6(HPS4):c.618G>A (p.Pro206=)
|
rs139165558
|
0.00043
|
NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=)
|
rs148472763
|
0.00043
|
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
|
rs139058165
|
0.00042
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
NM_000821.7(GGCX):c.*1698A>G
|
rs143548117
|
0.00042
|
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)
|
rs142560894
|
0.00042
|
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)
|
rs201674874
|
0.00042
|
NM_001994.3(F13B):c.1228G>A (p.Gly410Arg)
|
rs144134146
|
0.00042
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00041
|
NM_000096.4(CP):c.788A>G (p.Asn263Ser)
|
rs150303869
|
0.00041
|
NM_000136.3(FANCC):c.*97dup
|
rs1057515705
|
0.00041
|
NM_000373.4(UMPS):c.*1902G>A
|
rs147465900
|
0.00041
|
NM_000373.4(UMPS):c.*2605G>A
|
rs554810943
|
0.00041
|
NM_000375.3(UROS):c.*178G>A
|
rs569628154
|
0.00041
|
NM_000519.3(HBD):c.-62C>T
|
rs144322869
|
0.00041
|
NM_000552.5(VWF):c.5665-9C>A
|
rs201789774
|
0.00041
|
NM_000821.7(GGCX):c.*3269A>G
|
rs563109158
|
0.00041
|
NM_000821.7(GGCX):c.*469C>T
|
rs557756406
|
0.00041
|
NM_001001548.3(CD36):c.1163A>T (p.Gln388Leu)
|
rs201355711
|
0.00041
|
NM_001040436.3(YARS2):c.870T>C (p.Val290=)
|
rs142067801
|
0.00041
|
NM_001081.4(CUBN):c.671G>A (p.Arg224His)
|
rs139891639
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00041
|
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)
|
rs201514157
|
0.00041
|
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
NM_032444.4(SLX4):c.*882C>T
|
rs578011999
|
0.00041
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met)
|
rs141811556
|
0.00041
|
NM_139276.2(STAT3):c.-195G>C
|
rs780393027
|
0.00041
|
NM_203447.4(DOCK8):c.3067A>G (p.Ile1023Val)
|
rs140148619
|
0.00041
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)
|
rs144526169
|
0.00040
|
NM_000617.3(SLC11A2):c.15T>C (p.Pro5=)
|
rs192462172
|
0.00040
|
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)
|
rs145724674
|
0.00040
|
NM_001770.6(CD19):c.*37A>G
|
rs756122612
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_006996.3(SLC19A2):c.*51C>G
|
rs376279404
|
0.00040
|
NM_022081.6(HPS4):c.704A>G (p.His235Arg)
|
rs150166679
|
0.00040
|
NM_139279.6(MCFD2):c.*912C>T
|
rs189018618
|
0.00040
|
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln)
|
rs147287319
|
0.00040
|
NM_000064.4(C3):c.-44C>T
|
rs773043245
|
0.00039
|
NM_000130.5(F5):c.5558G>T (p.Gly1853Val)
|
rs182566496
|
0.00039
|
NM_000136.3(FANCC):c.*2296G>A
|
rs561975553
|
0.00039
|
NM_000195.5(HPS1):c.700C>T (p.Leu234=)
|
rs150444975
|
0.00039
|
NM_000602.5(SERPINE1):c.-54C>T
|
rs760811030
|
0.00039
|
NM_001018115.3(FANCD2):c.4281+355A>G
|
rs770674504
|
0.00039
|
NM_001386140.1(MTTP):c.394-7C>T
|
rs368989581
|
0.00039
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met)
|
rs201634881
|
0.00039
|
NM_005373.3(MPL):c.*1112G>A
|
rs543515941
|
0.00039
|
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys)
|
rs529838933
|
0.00039
|
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)
|
rs144990171
|
0.00039
|
NM_032444.4(SLX4):c.*102G>A
|
rs531417263
|
0.00039
|
NM_138477.4(CDAN1):c.2776G>A (p.Gly926Arg)
|
rs200401359
|
0.00039
|
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)
|
rs374606481
|
0.00039
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)
|
rs142010751
|
0.00038
|
NM_000081.4(LYST):c.1655T>C (p.Val552Ala)
|
rs199617821
|
0.00038
|
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)
|
rs141768227
|
0.00038
|
NM_000212.3(ITGB3):c.1800G>A (p.Leu600=)
|
rs139884210
|
0.00038
|
NM_000373.4(UMPS):c.*4693G>A
|
rs757504757
|
0.00038
|
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=)
|
rs375882355
|
0.00038
|
NM_000552.5(VWF):c.2547-5C>T
|
rs373203368
|
0.00038
|
NM_000552.5(VWF):c.7362C>T (p.Thr2454=)
|
rs146504585
|
0.00038
|
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)
|
rs138663330
|
0.00038
|
NM_001375808.2(LPIN2):c.*1827G>A
|
rs886053747
|
0.00038
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)
|
rs116959874
|
0.00038
|
NM_005141.5(FGB):c.1244+7G>A
|
rs142937995
|
0.00038
|
NM_005570.4(LMAN1):c.*2044A>G
|
rs191555835
|
0.00038
|
NM_014915.3(ANKRD26):c.-113A>C
|
rs886046949
|
0.00038
|
NM_019616.4(F7):c.*1614A>C
|
rs577978392
|
0.00038
|
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala)
|
rs144099522
|
0.00038
|
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
NM_152564.5(VPS13B):c.*743T>G
|
rs144603951
|
0.00038
|
NM_000096.4(CP):c.938C>T (p.Thr313Ile)
|
rs144401501
|
0.00037
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
NM_001754.5(RUNX1):c.*1096A>C
|
rs528969148
|
0.00037
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
NM_020661.4(AICDA):c.*235C>G
|
rs112610523
|
0.00037
|
NM_025215.6(PUS1):c.-244G>C
|
rs886049091
|
0.00037
|
NM_080669.6(SLC46A1):c.*2558C>T
|
rs750056802
|
0.00037
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
NM_000186.3(CFH):c.-175T>C
|
rs762143457
|
0.00036
|
NM_000195.5(HPS1):c.1887C>T (p.Pro629=)
|
rs142347792
|
0.00036
|
NM_000195.5(HPS1):c.473G>A (p.Arg158His)
|
rs140480324
|
0.00036
|
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)
|
rs144590448
|
0.00036
|
NM_000212.3(ITGB3):c.*480T>C
|
rs553453000
|
0.00036
|
NM_000298.6(PKLR):c.*582G>A
|
rs758139094
|
0.00036
|
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=)
|
rs141497408
|
0.00036
|
NM_000617.3(SLC11A2):c.*1949A>G
|
rs72561485
|
0.00036
|
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
|
rs146509445
|
0.00036
|
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=)
|
rs146520285
|
0.00036
|
NM_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
NM_020661.4(AICDA):c.*625T>C
|
rs112850229
|
0.00036
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)
|
rs145825553
|
0.00036
|
NM_181507.2(HPS5):c.986-5C>T
|
rs201439984
|
0.00036
|
NM_000037.4(ANK1):c.*701C>T
|
rs546029986
|
0.00035
|
NM_000037.4(ANK1):c.229-11A>G
|
rs372152994
|
0.00035
|
NM_000037.4(ANK1):c.327+3A>G
|
rs374296178
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)
|
rs141589936
|
0.00035
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
NM_000211.5(ITGB2):c.742-15A>G
|
rs199665785
|
0.00035
|
NM_000373.4(UMPS):c.*274C>T
|
rs556138886
|
0.00035
|
NM_001770.6(CD19):c.*100T>C
|
rs766679967
|
0.00035
|
NM_002203.4(ITGA2):c.*430G>C
|
rs886060666
|
0.00035
|
NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser)
|
rs140260039
|
0.00035
|
NM_006206.6(PDGFRA):c.*2970G>T
|
rs752208389
|
0.00035
|
NM_021922.3(FANCE):c.-105C>T
|
rs886061326
|
0.00035
|
NM_022051.3(EGLN1):c.*1088C>T
|
rs763620691
|
0.00035
|
NM_022051.3(EGLN1):c.*1965A>G
|
rs185322052
|
0.00035
|
NM_022081.6(HPS4):c.*1236G>A
|
rs1356149759
|
0.00035
|
NM_139276.3(STAT3):c.-140C>T
|
rs528219097
|
0.00035
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000081.4(LYST):c.2946T>C (p.Tyr982=)
|
rs145892183
|
0.00034
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
NM_000342.4(SLC4A1):c.*1676A>G
|
rs745898810
|
0.00034
|
NM_000821.7(GGCX):c.*270T>G
|
rs886056377
|
0.00034
|
NM_000821.7(GGCX):c.*598C>T
|
rs553605433
|
0.00034
|
NM_001001548.3(CD36):c.550G>A (p.Asp184Asn)
|
rs138897347
|
0.00034
|
NM_001018115.3(FANCD2):c.3466+10C>T
|
rs200208121
|
0.00034
|
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala)
|
rs150392211
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_002203.4(ITGA2):c.*1947T>C
|
rs561106268
|
0.00034
|
NM_005141.5(FGB):c.*624C>T
|
rs754198978
|
0.00034
|
NM_005570.4(LMAN1):c.478-15T>C
|
rs183354795
|
0.00034
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
NM_022051.2(EGLN1):c.-2887A>G
|
rs755076898
|
0.00034
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
NM_032043.3(BRIP1):c.*380C>T
|
rs556729826
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_080669.6(SLC46A1):c.*4418C>T
|
rs184621509
|
0.00034
|
NM_152564.5(VPS13B):c.10867+11A>G
|
rs376656751
|
0.00034
|
NM_183235.3(RAB27A):c.*2415T>C
|
rs749048516
|
0.00034
|
NM_000128.4(F11):c.*728T>C
|
rs566734345
|
0.00033
|
NM_000129.4(F13A1):c.*67C>T
|
rs182425546
|
0.00033
|
NM_000552.5(VWF):c.874+7C>T
|
rs201187598
|
0.00033
|
NM_000602.5(SERPINE1):c.*617T>A
|
rs186133446
|
0.00033
|
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln)
|
rs149622438
|
0.00033
|
NM_001375808.2(LPIN2):c.*2605G>A
|
rs559796642
|
0.00033
|
NM_001375808.2(LPIN2):c.*666C>T
|
rs186189096
|
0.00033
|
NM_001770.6(CD19):c.527C>T (p.Pro176Leu)
|
rs148200569
|
0.00033
|
NM_001814.6(CTSC):c.-48G>A
|
rs200415443
|
0.00033
|
NM_002203.4(ITGA2):c.*1671G>C
|
rs531102187
|
0.00033
|
NM_003126.4(SPTA1):c.3477+10G>C
|
rs201932894
|
0.00033
|
NM_014915.3(ANKRD26):c.*566G>A
|
rs149300287
|
0.00033
|
NM_017875.4(SLC25A38):c.456+10A>G
|
rs368989667
|
0.00033
|
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile)
|
rs146303784
|
0.00033
|
NM_032383.5(HPS3):c.2124C>T (p.Gly708=)
|
rs138987987
|
0.00033
|
NM_173842.3(IL1RN):c.*119C>T
|
rs377302236
|
0.00033
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
NM_000135.4(FANCA):c.*138T>A
|
rs775549018
|
0.00032
|
NM_000136.3(FANCC):c.*1495T>G
|
rs41281198
|
0.00032
|
NM_000136.3(FANCC):c.*2305G>A
|
rs562465438
|
0.00032
|
NM_000312.4(PROC):c.1299C>T (p.Gly433=)
|
rs151319700
|
0.00032
|
NM_000375.3(UROS):c.*99A>G
|
rs886046814
|
0.00032
|
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=)
|
rs139057918
|
0.00032
|
NM_000821.7(GGCX):c.*4895T>A
|
rs759788569
|
0.00032
|
NM_002203.4(ITGA2):c.*4028A>C
|
rs879585300
|
0.00032
|
NM_002473.6(MYH9):c.*748A>G
|
rs568025076
|
0.00032
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)
|
rs372075053
|
0.00032
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
NM_005141.5(FGB):c.*1671C>T
|
rs765773409
|
0.00032
|
NM_012092.4(ICOS):c.*1293T>C
|
rs528769953
|
0.00032
|
NM_015175.3(NBEAL2):c.5277C>T (p.Arg1759=)
|
rs370969690
|
0.00032
|
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)
|
rs144319567
|
0.00032
|
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)
|
rs45524646
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_173842.3(IL1RN):c.*382C>T
|
rs45566534
|
0.00032
|
NM_181507.2(HPS5):c.2721A>G (p.Ser907=)
|
rs139795577
|
0.00032
|
NC_000003.12:g.93973939G>C
|
rs149028936
|
0.00031
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000059.4(BRCA2):c.*854T>C
|
rs572993583
|
0.00031
|
NM_000081.4(LYST):c.2313G>A (p.Gln771=)
|
rs147220685
|
0.00031
|
NM_000133.4(F9):c.*794A>G
|
rs1057515800
|
0.00031
|
NM_000174.5(GP9):c.-78C>A
|
rs886057960
|
0.00031
|
NM_000289.5(PFKM):c.-174G>A
|
rs765876195
|
0.00031
|
NM_000313.4(PROS1):c.-135C>T
|
rs750502941
|
0.00031
|
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)
|
rs201265160
|
0.00031
|
NM_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00031
|
NM_000504.4(F10):c.646G>A (p.Asp216Asn)
|
rs144711550
|
0.00031
|
NM_000506.5(F2):c.234G>A (p.Thr78=)
|
rs151121282
|
0.00031
|
NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val)
|
rs148582995
|
0.00031
|
NM_000821.7(GGCX):c.1355G>C (p.Ser452Thr)
|
rs144429522
|
0.00031
|
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)
|
rs147426418
|
0.00031
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
|
rs150985118
|
0.00031
|
NM_001250.6(CD40):c.*677G>A
|
rs370599881
|
0.00031
|
NM_001754.5(RUNX1):c.*2005A>G
|
rs115087797
|
0.00031
|
NM_003126.4(SPTA1):c.1833+4G>A
|
rs370697955
|
0.00031
|
NM_003126.4(SPTA1):c.3477+15C>T
|
rs369904982
|
0.00031
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
NM_004629.2(FANCG):c.794C>T (p.Ala265Val)
|
rs764992007
|
0.00031
|
NM_005570.4(LMAN1):c.*185A>T
|
rs764761931
|
0.00031
|
NM_006947.4(SRP72):c.*505C>T
|
rs562987091
|
0.00031
|
NM_006996.3(SLC19A2):c.*1186A>G
|
rs922589020
|
0.00031
|
NM_015175.3(NBEAL2):c.2557-5C>G
|
rs760228884
|
0.00031
|
NM_015175.3(NBEAL2):c.7602+12G>A
|
rs374154267
|
0.00031
|
NM_019616.4(F7):c.813G>A (p.Thr271=)
|
rs148965964
|
0.00031
|
NM_021871.4(FGA):c.244A>C (p.Thr82Pro)
|
rs199554805
|
0.00031
|
NM_022725.4(FANCF):c.*1094A>G
|
rs544116147
|
0.00031
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
NM_138477.4(CDAN1):c.*223G>C
|
rs568387944
|
0.00031
|
NM_139279.6(MCFD2):c.*62T>G
|
rs886056117
|
0.00031
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
NM_000037.4(ANK1):c.1194C>T (p.Asp398=)
|
rs148471199
|
0.00030
|
NM_000135.4(FANCA):c.*521C>T
|
rs144644592
|
0.00030
|
NM_000212.3(ITGB3):c.285C>T (p.Leu95=)
|
rs151121691
|
0.00030
|
NM_000298.6(PKLR):c.*1041C>T
|
rs528740550
|
0.00030
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
NM_001063.4(TF):c.1107C>T (p.His369=)
|
rs112157819
|
0.00030
|
NM_001063.4(TF):c.119G>A (p.Ser40Asn)
|
rs146477698
|
0.00030
|
NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu)
|
rs139489941
|
0.00030
|
NM_006206.5(PDGFRA):c.-318G>A
|
rs533627398
|
0.00030
|
NM_017875.4(SLC25A38):c.*547C>T
|
rs559766369
|
0.00030
|
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala)
|
rs141545606
|
0.00030
|
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys)
|
rs145481980
|
0.00030
|
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)
|
rs143558209
|
0.00030
|
NM_138477.4(CDAN1):c.3204+5G>A
|
rs201125492
|
0.00030
|
NM_139276.3(STAT3):c.*895A>G
|
rs537640981
|
0.00030
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)
|
rs200102606
|
0.00030
|
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys)
|
rs200899164
|
0.00030
|
NM_203447.4(DOCK8):c.828-7A>G
|
rs200243583
|
0.00030
|
NM_000037.4(ANK1):c.1503C>T (p.Thr501=)
|
rs145793923
|
0.00029
|
NM_000037.4(ANK1):c.3984+9A>G
|
rs369984591
|
0.00029
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000081.4(LYST):c.3394-14T>C
|
rs372892911
|
0.00029
|
NM_000096.4(CP):c.*373C>G
|
rs370247691
|
0.00029
|
NM_000130.5(F5):c.1158A>G (p.Gln386=)
|
rs148623862
|
0.00029
|
NM_000130.5(F5):c.5490G>A (p.Leu1830=)
|
rs149092241
|
0.00029
|
NM_000135.4(FANCA):c.*144G>C
|
rs575606938
|
0.00029
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
NM_000211.4(ITGB2):c.-98T>C
|
rs7280802
|
0.00029
|
NM_000212.3(ITGB3):c.*1960G>A
|
rs762687226
|
0.00029
|
NM_000313.4(PROS1):c.-261C>T
|
rs886058930
|
0.00029
|
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn)
|
rs146366248
|
0.00029
|
NM_000488.4(SERPINC1):c.-57G>A
|
rs372524963
|
0.00029
|
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)
|
rs61736655
|
0.00029
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000617.3(SLC11A2):c.*716G>A
|
rs571129669
|
0.00029
|
NM_000821.7(GGCX):c.1107C>T (p.Leu369=)
|
rs145056129
|
0.00029
|
NM_001018115.3(FANCD2):c.1134+8T>G
|
rs373232961
|
0.00029
|
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)
|
rs61751578
|
0.00029
|
NM_001018115.3(FANCD2):c.4281+597C>T
|
rs548255173
|
0.00029
|
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser)
|
rs74844886
|
0.00029
|
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg)
|
rs146035059
|
0.00029
|
NM_001375808.2(LPIN2):c.*1021G>A
|
rs886053751
|
0.00029
|
NM_001375808.2(LPIN2):c.*3280C>T
|
rs751266426
|
0.00029
|
NM_001386140.1(MTTP):c.-82C>T
|
rs767201629
|
0.00029
|
NM_001386140.1(MTTP):c.-84T>C
|
rs761717058
|
0.00029
|
NM_001994.3(F13B):c.1285T>C (p.Tyr429His)
|
rs201427054
|
0.00029
|
NM_002203.4(ITGA2):c.*3455A>G
|
rs893708736
|
0.00029
|
NM_005476.7(GNE):c.*446C>T
|
rs886063924
|
0.00029
|
NM_006206.6(PDGFRA):c.*332G>A
|
rs750090756
|
0.00029
|
NM_006206.6(PDGFRA):c.-13+12G>T
|
rs760170961
|
0.00029
|
NM_017875.4(SLC25A38):c.-69C>T
|
rs886058470
|
0.00029
|
NM_019616.4(F7):c.*340T>C
|
rs545497651
|
0.00029
|
NM_024747.6(HPS6):c.1363T>C (p.Leu455=)
|
rs144777687
|
0.00029
|
NM_032043.3(BRIP1):c.-237dup
|
rs112243287
|
0.00029
|
NM_032444.4(SLX4):c.*311G>A
|
rs749668095
|
0.00029
|
NM_080669.6(SLC46A1):c.*3389G>A
|
rs146812537
|
0.00029
|
NM_138477.4(CDAN1):c.57G>C (p.Val19=)
|
rs150418267
|
0.00029
|
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val)
|
rs202015701
|
0.00029
|
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=)
|
rs142380266
|
0.00029
|
NM_000061.3(BTK):c.-105G>T
|
rs1034801451
|
0.00028
|
NM_000313.4(PROS1):c.-48C>A
|
rs775507528
|
0.00028
|
NM_000373.4(UMPS):c.*4672C>T
|
rs549550940
|
0.00028
|
NM_000375.3(UROS):c.106T>G (p.Leu36Val)
|
rs200858139
|
0.00028
|
NM_000504.4(F10):c.872G>A (p.Arg291Gln)
|
rs149212700
|
0.00028
|
NM_000821.7(GGCX):c.*106T>G
|
rs530539627
|
0.00028
|
NM_001081.4(CUBN):c.9664-9T>G
|
rs145383974
|
0.00028
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_001754.5(RUNX1):c.*3417A>G
|
rs529009591
|
0.00028
|
NM_001814.5(CTSC):c.-80G>C
|
rs758293258
|
0.00028
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)
|
rs146587686
|
0.00028
|
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)
|
rs201160833
|
0.00028
|
NM_015175.3(NBEAL2):c.5980G>A (p.Asp1994Asn)
|
rs200060366
|
0.00028
|
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)
|
rs753304968
|
0.00028
|
NM_022051.3(EGLN1):c.-20T>C
|
rs756211725
|
0.00028
|
NM_024006.6(VKORC1):c.202C>T (p.His68Tyr)
|
rs145273772
|
0.00028
|
NM_032043.3(BRIP1):c.*1868G>T
|
rs184666432
|
0.00028
|
NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=)
|
rs144916851
|
0.00028
|
NM_181507.2(HPS5):c.1692T>C (p.Pro564=)
|
rs150590027
|
0.00028
|
NM_000130.5(F5):c.566C>T (p.Pro189Leu)
|
rs141800405
|
0.00027
|
NM_000136.3(FANCC):c.*431T>C
|
rs550009657
|
0.00027
|
NM_000211.5(ITGB2):c.1877+12C>T
|
rs200144784
|
0.00027
|
NM_000602.5(SERPINE1):c.456G>C (p.Val152=)
|
rs200318916
|
0.00027
|
NM_001014.5(RPS10):c.-27C>A
|
rs749286823
|
0.00027
|
NM_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
NM_001375808.2(LPIN2):c.*167C>T
|
rs533979693
|
0.00027
|
NM_001375808.2(LPIN2):c.*2391G>A
|
rs536036852
|
0.00027
|
NM_001754.5(RUNX1):c.*2840A>T
|
rs188812411
|
0.00027
|
NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=)
|
rs369020197
|
0.00027
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
NM_005570.4(LMAN1):c.1050G>T (p.Arg350=)
|
rs185875271
|
0.00027
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
NM_024747.6(HPS6):c.-5G>A
|
rs376684120
|
0.00027
|
NM_025215.6(PUS1):c.*152A>T
|
rs188546423
|
0.00027
|
NM_032444.4(SLX4):c.-416G>A
|
rs528320603
|
0.00027
|
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=)
|
rs779365266
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_181507.2(HPS5):c.*812A>C
|
rs755078355
|
0.00027
|
NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=)
|
rs144299704
|
0.00027
|
NM_000037.4(ANK1):c.876G>A (p.Leu292=)
|
rs373060967
|
0.00026
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
NM_000096.4(CP):c.2565C>T (p.Leu855=)
|
rs781672409
|
0.00026
|
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser)
|
rs115148599
|
0.00026
|
NM_000130.5(F5):c.996A>C (p.Lys332Asn)
|
rs143509841
|
0.00026
|
NM_000204.4(CFI):c.-171G>A
|
rs182477786
|
0.00026
|
NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn)
|
rs763017753
|
0.00026
|
NM_000298.6(PKLR):c.6G>A (p.Ser2=)
|
rs139697646
|
0.00026
|
NM_000313.4(PROS1):c.*119T>C
|
rs886058924
|
0.00026
|
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)
|
rs13306776
|
0.00026
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
NM_000419.5(ITGA2B):c.2449-11C>T
|
rs201702898
|
0.00026
|
NM_000419.5(ITGA2B):c.671-13C>T
|
rs200108644
|
0.00026
|
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)
|
rs370190321
|
0.00026
|
NM_000602.5(SERPINE1):c.*1266G>C
|
rs778538888
|
0.00026
|
NM_000821.7(GGCX):c.24G>A (p.Ala8=)
|
rs371622780
|
0.00026
|
NM_001001548.3(CD36):c.*1419+163C>T
|
rs531464767
|
0.00026
|
NM_001001548.3(CD36):c.572C>T (p.Pro191Leu)
|
rs143150225
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=)
|
rs150510291
|
0.00026
|
NM_001114134.2(EPB42):c.1032T>C (p.Asp344=)
|
rs150481419
|
0.00026
|
NM_001375808.2(LPIN2):c.*1443G>A
|
rs532711041
|
0.00026
|
NM_001375808.2(LPIN2):c.*833G>A
|
rs540627141
|
0.00026
|
NM_001375808.2(LPIN2):c.-10+1187C>T
|
rs765741319
|
0.00026
|
NM_001994.3(F13B):c.354C>T (p.Cys118=)
|
rs142562955
|
0.00026
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
NM_005141.5(FGB):c.*1771C>T
|
rs776780011
|
0.00026
|
NM_005476.7(GNE):c.*582A>G
|
rs999645453
|
0.00026
|
NM_005570.4(LMAN1):c.*1616A>G
|
rs543483287
|
0.00026
|
NM_006206.6(PDGFRA):c.*1249C>T
|
rs777258903
|
0.00026
|
NM_015175.3(NBEAL2):c.*155C>A
|
rs886058609
|
0.00026
|
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)
|
rs758238449
|
0.00026
|
NM_022051.3(EGLN1):c.*663C>T
|
rs375652885
|
0.00026
|
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu)
|
rs796280222
|
0.00026
|
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr)
|
rs140732502
|
0.00026
|
NM_022725.3(FANCF):c.-31T>C
|
rs202069513
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
|
rs138303522
|
0.00026
|
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu)
|
rs371551313
|
0.00026
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
NM_172351.3(CD46):c.276C>T (p.Asp92=)
|
rs148383499
|
0.00026
|
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val)
|
rs139990627
|
0.00026
|
NM_000037.4(ANK1):c.447G>T (p.Ala149=)
|
rs140550365
|
0.00025
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000129.4(F13A1):c.130+15C>G
|
rs200488257
|
0.00025
|
NM_000130.5(F5):c.2868T>C (p.Tyr956=)
|
rs149067268
|
0.00025
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)
|
rs546519295
|
0.00025
|
NM_000821.7(GGCX):c.849G>C (p.Val283=)
|
rs149603998
|
0.00025
|
NM_001375808.2(LPIN2):c.*477C>T
|
rs140430664
|
0.00025
|
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro)
|
rs373929015
|
0.00025
|
NM_001754.5(RUNX1):c.*933T>C
|
rs559096806
|
0.00025
|
NM_005570.4(LMAN1):c.*210G>A
|
rs182963083
|
0.00025
|
NM_005570.4(LMAN1):c.*424T>G
|
rs886054037
|
0.00025
|
NM_006206.6(PDGFRA):c.*1928G>C
|
rs748063948
|
0.00025
|
NM_006947.4(SRP72):c.*624A>G
|
rs867685822
|
0.00025
|
NM_017875.4(SLC25A38):c.-225G>A
|
rs370977005
|
0.00025
|
NM_022051.2(EGLN1):c.-470C>T
|
rs886046118
|
0.00025
|
NM_022081.6(HPS4):c.-42A>G
|
rs369803062
|
0.00025
|
NM_025215.6(PUS1):c.*164C>T
|
rs554815640
|
0.00025
|
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met)
|
rs149620802
|
0.00025
|
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe)
|
rs201638660
|
0.00025
|
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile)
|
rs148368084
|
0.00025
|
NM_000037.4(ANK1):c.2713G>A (p.Val905Met)
|
rs141069023
|
0.00024
|
NM_000128.4(F11):c.*584A>T
|
rs766777099
|
0.00024
|
NM_000135.4(FANCA):c.*819T>C
|
rs186050933
|
0.00024
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
NM_000195.5(HPS1):c.-91T>A
|
rs542654066
|
0.00024
|
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=)
|
rs200615045
|
0.00024
|
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu)
|
rs373223342
|
0.00024
|
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn)
|
rs149483341
|
0.00024
|
NM_000222.3(KIT):c.*2056G>A
|
rs567475861
|
0.00024
|
NM_000313.4(PROS1):c.*1103A>G
|
rs779418455
|
0.00024
|
NM_000313.4(PROS1):c.*155T>A
|
rs534064879
|
0.00024
|
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)
|
rs75731670
|
0.00024
|
NM_000519.4(HBD):c.225C>T (p.Gly75=)
|
rs113727122
|
0.00024
|
NM_000821.7(GGCX):c.*3584C>T
|
rs748992023
|
0.00024
|
NM_001001547.3(CD36):c.-211C>T
|
rs151218598
|
0.00024
|
NM_001001548.3(CD36):c.655G>T (p.Asp219Tyr)
|
rs201715989
|
0.00024
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
|
rs201037656
|
0.00024
|
NM_001114134.2(EPB42):c.10+91G>A
|
rs150530456
|
0.00024
|
NM_001243177.4(ALDOA):c.*96C>T
|
rs886051897
|
0.00024
|
NM_001271696.3(ABCB7):c.*113A>G
|
rs916633787
|
0.00024
|
NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu)
|
rs375189210
|
0.00024
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
NM_001430.5(EPAS1):c.*1278C>T
|
rs545916994
|
0.00024
|
NM_003126.4(SPTA1):c.3188+8C>G
|
rs199558386
|
0.00024
|
NM_003126.4(SPTA1):c.6549-4C>G
|
rs199640503
|
0.00024
|
NM_003664.5(AP3B1):c.1168-9C>T
|
rs367648410
|
0.00024
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
NM_006206.6(PDGFRA):c.*2121C>A
|
rs557865852
|
0.00024
|
NM_015175.3(NBEAL2):c.5356A>T (p.Thr1786Ser)
|
rs373627201
|
0.00024
|
NM_022051.3(EGLN1):c.*1185T>C
|
rs775022659
|
0.00024
|
NM_022051.3(EGLN1):c.*2044G>A
|
rs886046096
|
0.00024
|
NM_022051.3(EGLN1):c.-374C>T
|
rs551144196
|
0.00024
|
NM_024747.6(HPS6):c.1035G>A (p.Arg345=)
|
rs374860183
|
0.00024
|
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)
|
rs147315419
|
0.00024
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
NM_032638.5(GATA2):c.*352C>T
|
rs938268244
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_198253.3(TERT):c.*237C>T
|
rs567092780
|
0.00024
|
NM_203447.4(DOCK8):c.5818-13G>A
|
rs368826292
|
0.00024
|
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser)
|
rs745888361
|
0.00023
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_000361.3(THBD):c.*1011C>A
|
rs534762196
|
0.00023
|
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)
|
rs141982176
|
0.00023
|
NM_000384.3(APOB):c.5763A>G (p.Gly1921=)
|
rs141022509
|
0.00023
|
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala)
|
rs148429884
|
0.00023
|
NM_001001548.3(CD36):c.649G>A (p.Gly217Arg)
|
rs200067322
|
0.00023
|
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=)
|
rs560600678
|
0.00023
|
NM_022081.6(HPS4):c.1192A>C (p.Arg398=)
|
rs375655372
|
0.00023
|
NM_024747.6(HPS6):c.1039G>A (p.Val347Ile)
|
rs139517839
|
0.00023
|
NM_032043.3(BRIP1):c.*3465A>T
|
rs539412199
|
0.00023
|
NM_080669.6(SLC46A1):c.*2262G>A
|
rs782425144
|
0.00023
|
NM_138477.4(CDAN1):c.1058-11T>G
|
rs372671684
|
0.00023
|
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=)
|
rs148759214
|
0.00023
|
NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln)
|
rs142833783
|
0.00023
|
NM_181507.2(HPS5):c.*95C>A
|
rs776484868
|
0.00023
|
NM_203447.4(DOCK8):c.5892C>T (p.Asn1964=)
|
rs138617736
|
0.00023
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000081.4(LYST):c.2754G>A (p.Glu918=)
|
rs373577384
|
0.00022
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00022
|
NM_000135.4(FANCA):c.*146C>T
|
rs556325258
|
0.00022
|
NM_000195.5(HPS1):c.507+13C>T
|
rs371779884
|
0.00022
|
NM_000222.3(KIT):c.*390A>G
|
rs528891717
|
0.00022
|
NM_000289.6(PFKM):c.*452T>C
|
rs563335260
|
0.00022
|
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
|
rs141570669
|
0.00022
|
NM_000298.6(PKLR):c.965+12G>A
|
rs200039500
|
0.00022
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_000602.5(SERPINE1):c.*207C>T
|
rs747135553
|
0.00022
|
NM_000617.3(SLC11A2):c.*1795G>A
|
rs750648046
|
0.00022
|
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)
|
rs1801237
|
0.00022
|
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
|
rs191202700
|
0.00022
|
NM_006947.4(SRP72):c.*1385A>G
|
rs754461786
|
0.00022
|
NM_019616.4(F7):c.*550C>T
|
rs529590090
|
0.00022
|
NM_022051.3(EGLN1):c.*1731C>T
|
rs759117979
|
0.00022
|
NM_022081.5(HPS4):c.-622G>C
|
rs886057324
|
0.00022
|
NM_032638.5(GATA2):c.1416G>A (p.Pro472=)
|
rs376805544
|
0.00022
|
NM_138477.4(CDAN1):c.2008-8C>T
|
rs201733620
|
0.00022
|
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser)
|
rs543791953
|
0.00022
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_174936.4(PCSK9):c.*950C>T
|
rs72646537
|
0.00022
|
NM_198253.3(TERT):c.*83G>A
|
rs533940688
|
0.00022
|
NM_000037.4(ANK1):c.*32G>A
|
rs117166178
|
0.00021
|
NM_000037.4(ANK1):c.669G>A (p.Gln223=)
|
rs375060699
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)
|
rs148880015
|
0.00021
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
NM_000081.4(LYST):c.9045-13T>C
|
rs181450025
|
0.00021
|
NM_000096.4(CP):c.1104G>C (p.Gly368=)
|
rs142503847
|
0.00021
|
NM_000128.4(F11):c.1029-11T>C
|
rs373348576
|
0.00021
|
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)
|
rs199507543
|
0.00021
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
NM_000361.3(THBD):c.*338C>T
|
rs536637715
|
0.00021
|
NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp)
|
rs142445733
|
0.00021
|
NM_000504.4(F10):c.57G>A (p.Leu19=)
|
rs370154986
|
0.00021
|
NM_000506.5(F2):c.495G>A (p.Thr165=)
|
rs144857547
|
0.00021
|
NM_000617.3(SLC11A2):c.*1057C>T
|
rs767436028
|
0.00021
|
NM_000821.7(GGCX):c.*2060T>C
|
rs886056369
|
0.00021
|
NM_001040436.3(YARS2):c.*24A>G
|
rs368305831
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001374504.1(TMPRSS6):c.1493C>T (p.Pro498Leu)
|
rs138915369
|
0.00021
|
NM_001374504.1(TMPRSS6):c.632-8C>T
|
rs375234781
|
0.00021
|
NM_001375808.2(LPIN2):c.*3217A>G
|
rs767074158
|
0.00021
|
NM_001386140.1(MTTP):c.*989T>C
|
rs183510498
|
0.00021
|
NM_001994.3(F13B):c.1257C>A (p.Ser419=)
|
rs761403510
|
0.00021
|
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)
|
rs374589766
|
0.00021
|
NM_006846.4(SPINK5):c.750C>T (p.Asp250=)
|
rs199793551
|
0.00021
|
NM_015175.3(NBEAL2):c.2487G>A (p.Thr829=)
|
rs370670784
|
0.00021
|
NM_015175.3(NBEAL2):c.2505G>A (p.Glu835=)
|
rs202204936
|
0.00021
|
NM_015175.3(NBEAL2):c.6736G>A (p.Asp2246Asn)
|
rs372963074
|
0.00021
|
NM_018947.6(CYCS):c.*1622del
|
rs199806702
|
0.00021
|
NM_019616.4(F7):c.*543A>G
|
rs886049991
|
0.00021
|
NM_022081.6(HPS4):c.-568T>A
|
rs1023210861
|
0.00021
|
NM_022081.6(HPS4):c.133-6C>T
|
rs571184796
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_032444.4(SLX4):c.-271G>A
|
rs149773885
|
0.00021
|
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=)
|
rs371799686
|
0.00021
|
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)
|
rs140639242
|
0.00021
|
NM_139279.6(MCFD2):c.*1875T>C
|
rs552695942
|
0.00021
|
NM_152564.5(VPS13B):c.*1345C>T
|
rs778566330
|
0.00021
|
NM_152564.5(VPS13B):c.*745C>G
|
rs138761680
|
0.00021
|
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
|
rs138565077
|
0.00021
|
NM_173842.3(IL1RN):c.117-9C>T
|
rs373136455
|
0.00021
|
NM_203447.4(DOCK8):c.1979C>A (p.Ala660Asp)
|
rs550289472
|
0.00021
|
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met)
|
rs148693111
|
0.00021
|
NM_000037.4(ANK1):c.*385G>T
|
rs1343502294
|
0.00020
|
NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln)
|
rs150032875
|
0.00020
|
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)
|
rs200511787
|
0.00020
|
NM_000121.4(EPOR):c.596T>C (p.Leu199Pro)
|
rs750657898
|
0.00020
|
NM_000128.4(F11):c.1028+9T>C
|
rs376630194
|
0.00020
|
NM_000130.5(F5):c.*1780G>T
|
rs559071301
|
0.00020
|
NM_000211.5(ITGB2):c.-8C>T
|
rs886057120
|
0.00020
|
NM_000312.4(PROC):c.-54G>A
|
rs2069936
|
0.00020
|
NM_001001548.3(CD36):c.5G>T (p.Gly2Val)
|
rs201759988
|
0.00020
|
NM_001063.4(TF):c.281A>G (p.Asn94Ser)
|
rs200551981
|
0.00020
|
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
|
rs147873714
|
0.00020
|
NM_001375808.2(LPIN2):c.*1462A>G
|
rs560770304
|
0.00020
|
NM_002473.6(MYH9):c.*978A>G
|
rs886057472
|
0.00020
|
NM_006206.6(PDGFRA):c.*2142G>A
|
rs914482961
|
0.00020
|
NM_006206.6(PDGFRA):c.*2186G>A
|
rs569793596
|
0.00020
|
NM_015175.3(NBEAL2):c.1618C>T (p.Arg540Trp)
|
rs201777850
|
0.00020
|
NM_015175.3(NBEAL2):c.5688C>T (p.Leu1896=)
|
rs201985571
|
0.00020
|
NM_015175.3(NBEAL2):c.5864G>A (p.Arg1955His)
|
rs372422378
|
0.00020
|
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu)
|
rs139107954
|
0.00020
|
NM_022725.4(FANCF):c.465A>T (p.Pro155=)
|
rs201215734
|
0.00020
|
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)
|
rs141068948
|
0.00020
|
NM_032043.3(BRIP1):c.*2812A>G
|
rs112375062
|
0.00020
|
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)
|
rs151048660
|
0.00020
|
NM_139276.3(STAT3):c.*2144C>T
|
rs886052932
|
0.00020
|
NM_198253.3(TERT):c.2391C>G (p.Ser797=)
|
rs377216965
|
0.00020
|
NM_000037.4(ANK1):c.*1952G>A
|
rs886062931
|
0.00019
|
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)
|
rs144821829
|
0.00019
|
NM_000037.4(ANK1):c.3533-10G>A
|
rs374510116
|
0.00019
|
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp)
|
rs113948846
|
0.00019
|
NM_000057.4(BLM):c.-65C>T
|
rs577293550
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000096.4(CP):c.1217C>A (p.Ala406Glu)
|
rs147034302
|
0.00019
|
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)
|
rs199568344
|
0.00019
|
NM_000135.4(FANCA):c.*104G>A
|
rs55859244
|
0.00019
|
NM_000135.4(FANCA):c.*317G>A
|
rs201817705
|
0.00019
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
NM_000136.3(FANCC):c.*254G>A
|
rs773331481
|
0.00019
|
NM_000136.3(FANCC):c.*476A>T
|
rs756786451
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=)
|
rs61737080
|
0.00019
|
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=)
|
rs201741054
|
0.00019
|
NM_000212.3(ITGB3):c.537C>T (p.Phe179=)
|
rs770144031
|
0.00019
|
NM_000212.3(ITGB3):c.900T>C (p.His300=)
|
rs376378154
|
0.00019
|
NM_000222.3(KIT):c.952A>G (p.Met318Val)
|
rs143388949
|
0.00019
|
NM_000298.6(PKLR):c.*499G>A
|
rs777573500
|
0.00019
|
NM_000298.6(PKLR):c.*866T>C
|
rs886045347
|
0.00019
|
NM_000355.4(TCN2):c.*405T>C
|
rs539828054
|
0.00019
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
NM_000373.4(UMPS):c.*3701C>T
|
rs768769772
|
0.00019
|
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu)
|
rs119103276
|
0.00019
|
NM_000506.5(F2):c.798C>T (p.Asp266=)
|
rs138260543
|
0.00019
|
NM_000552.5(VWF):c.5171-7C>T
|
rs368303633
|
0.00019
|
NM_000602.5(SERPINE1):c.626G>A (p.Arg209His)
|
rs2227669
|
0.00019
|
NM_000821.7(GGCX):c.*2284C>G
|
rs572084939
|
0.00019
|
NM_000821.7(GGCX):c.*2285T>A
|
rs553827130
|
0.00019
|
NM_000821.7(GGCX):c.*3921G>A
|
rs886056360
|
0.00019
|
NM_001022.3(RPS19):c.-50G>A
|
rs886634767
|
0.00019
|
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
|
rs1266678482
|
0.00019
|
NM_001081.4(CUBN):c.388-3C>T
|
rs367626184
|
0.00019
|
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)
|
rs149802222
|
0.00019
|
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)
|
rs139990077
|
0.00019
|
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=)
|
rs200457480
|
0.00019
|
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)
|
rs199726965
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)
|
rs112387610
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
NM_001375808.2(LPIN2):c.*1126G>A
|
rs886053750
|
0.00019
|
NM_001386140.1(MTTP):c.799T>C (p.Leu267=)
|
rs7672497
|
0.00019
|
NM_001754.5(RUNX1):c.*195C>T
|
rs1464816967
|
0.00019
|
NM_001754.5(RUNX1):c.*3580T>G
|
rs373937576
|
0.00019
|
NM_001754.5(RUNX1):c.*436G>C
|
rs369123316
|
0.00019
|
NM_001770.6(CD19):c.-16G>A
|
rs201081926
|
0.00019
|
NM_003126.4(SPTA1):c.6378G>T (p.Val2126=)
|
rs141823269
|
0.00019
|
NM_005141.5(FGB):c.*592G>A
|
rs376470048
|
0.00019
|
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro)
|
rs146699265
|
0.00019
|
NM_005476.7(GNE):c.*1575C>T
|
rs761447556
|
0.00019
|
NM_005476.7(GNE):c.*208T>C
|
rs771508931
|
0.00019
|
NM_005570.4(LMAN1):c.*1298A>G
|
rs762134361
|
0.00019
|
NM_005570.4(LMAN1):c.*939C>T
|
rs149781610
|
0.00019
|
NM_006996.3(SLC19A2):c.*638G>A
|
rs757466309
|
0.00019
|
NM_015175.3(NBEAL2):c.4367G>A (p.Arg1456His)
|
rs117340996
|
0.00019
|
NM_015175.3(NBEAL2):c.5335C>T (p.Arg1779Cys)
|
rs199944912
|
0.00019
|
NM_018389.5(SLC35C1):c.*1418C>A
|
rs575219836
|
0.00019
|
NM_019616.4(F7):c.*1383C>T
|
rs117025399
|
0.00019
|
NM_019616.4(F7):c.*894C>T
|
rs181035432
|
0.00019
|
NM_019616.4(F7):c.930G>A (p.Thr310=)
|
rs202240468
|
0.00019
|
NM_021922.3(FANCE):c.-197C>T
|
rs45570533
|
0.00019
|
NM_021922.3(FANCE):c.-19G>C
|
rs13215706
|
0.00019
|
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala)
|
rs144257610
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032444.4(SLX4):c.*374C>T
|
rs369843531
|
0.00019
|
NM_032444.4(SLX4):c.-21G>C
|
rs200717103
|
0.00019
|
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg)
|
rs544935776
|
0.00019
|
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=)
|
rs767759337
|
0.00019
|
NM_080669.6(SLC46A1):c.*4071G>A
|
rs908290461
|
0.00019
|
NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=)
|
rs754541465
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp)
|
rs752089199
|
0.00019
|
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=)
|
rs139039126
|
0.00019
|
NM_203447.4(DOCK8):c.1683C>A (p.Asn561Lys)
|
rs372278912
|
0.00019
|
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn)
|
rs150298985
|
0.00019
|
NM_203447.4(DOCK8):c.4241+12G>A
|
rs371073556
|
0.00019
|
NM_000130.5(F5):c.1297-13T>C
|
rs372389170
|
0.00018
|
NM_000132.4(F8):c.*1166A>G
|
rs984572217
|
0.00018
|
NM_000373.4(UMPS):c.*4116G>A
|
rs886057894
|
0.00018
|
NM_000419.5(ITGA2B):c.1708G>A (p.Gly570Arg)
|
rs146382550
|
0.00018
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000821.7(GGCX):c.540-8C>T
|
rs374625413
|
0.00018
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
0.00018
|
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr)
|
rs140357734
|
0.00018
|
NM_001250.5(CD40):c.-61G>T
|
rs542745249
|
0.00018
|
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys)
|
rs752163489
|
0.00018
|
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser)
|
rs201678207
|
0.00018
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
NM_001754.5(RUNX1):c.-59-10C>T
|
rs578080277
|
0.00018
|
NM_002203.4(ITGA2):c.*3358G>C
|
rs552507591
|
0.00018
|
NM_003126.4(SPTA1):c.345G>A (p.Arg115=)
|
rs200343758
|
0.00018
|
NM_003126.4(SPTA1):c.957+7C>T
|
rs369937649
|
0.00018
|
NM_005570.4(LMAN1):c.846G>A (p.Ser282=)
|
rs377676111
|
0.00018
|
NM_022051.3(EGLN1):c.*371A>C
|
rs923016967
|
0.00018
|
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu)
|
rs149362820
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000081.4(LYST):c.2700A>G (p.Leu900=)
|
rs111463684
|
0.00017
|
NM_000096.4(CP):c.944A>G (p.Asn315Ser)
|
rs370682704
|
0.00017
|
NM_000129.4(F13A1):c.1761G>A (p.Ala587=)
|
rs377479323
|
0.00017
|
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
|
rs199660138
|
0.00017
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
NM_000211.4(ITGB2):c.-228G>A
|
rs915029945
|
0.00017
|
NM_000212.3(ITGB3):c.*460A>G
|
rs539834727
|
0.00017
|
NM_000313.4(PROS1):c.*370G>A
|
rs144135580
|
0.00017
|
NM_000373.4(UMPS):c.*4065C>T
|
rs759188574
|
0.00017
|
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)
|
rs151333262
|
0.00017
|
NM_000552.5(VWF):c.7007C>T (p.Pro2336Leu)
|
rs144769404
|
0.00017
|
NM_000602.5(SERPINE1):c.*275C>T
|
rs551400163
|
0.00017
|
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)
|
rs56381858
|
0.00017
|
NM_001001548.3(CD36):c.403T>C (p.Phe135Leu)
|
rs140968958
|
0.00017
|
NM_001081.4(CUBN):c.*940A>G
|
rs560609264
|
0.00017
|
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser)
|
rs370803308
|
0.00017
|
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)
|
rs376536525
|
0.00017
|
NM_001374504.1(TMPRSS6):c.-1-218C>G
|
rs576482552
|
0.00017
|
NM_001375808.2(LPIN2):c.*1874C>G
|
rs75771450
|
0.00017
|
NM_001375808.2(LPIN2):c.*945G>A
|
rs112444822
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_001754.5(RUNX1):c.*107G>A
|
rs886057045
|
0.00017
|
NM_002473.6(MYH9):c.*802T>G
|
rs528245823
|
0.00017
|
NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr)
|
rs146993090
|
0.00017
|
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)
|
rs201844450
|
0.00017
|
NM_003664.5(AP3B1):c.*482C>T
|
rs538570213
|
0.00017
|
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)
|
rs142737453
|
0.00017
|
NM_005476.7(GNE):c.*1007G>A
|
rs1192808563
|
0.00017
|
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)
|
rs139882548
|
0.00017
|
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser)
|
rs149595229
|
0.00017
|
NM_014915.3(ANKRD26):c.1327G>A (p.Gly443Arg)
|
rs199787000
|
0.00017
|
NM_015175.3(NBEAL2):c.3373G>A (p.Asp1125Asn)
|
rs373444282
|
0.00017
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
NM_020661.4(AICDA):c.*1173C>T
|
rs192088951
|
0.00017
|
NM_021922.3(FANCE):c.-167C>T
|
rs911947663
|
0.00017
|
NM_022081.6(HPS4):c.1680G>A (p.Pro560=)
|
rs527653764
|
0.00017
|
NM_025215.6(PUS1):c.*120G>A
|
rs569395844
|
0.00017
|
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp)
|
rs758789462
|
0.00017
|
NM_032638.5(GATA2):c.*1544A>G
|
rs886057921
|
0.00017
|
NM_032638.5(GATA2):c.*190C>T
|
rs112947643
|
0.00017
|
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=)
|
rs371805226
|
0.00017
|
NM_080669.6(SLC46A1):c.*4091C>A
|
rs1046966571
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_203447.4(DOCK8):c.626G>A (p.Arg209Gln)
|
rs151262535
|
0.00017
|
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)
|
rs147232364
|
0.00016
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
NM_000081.4(LYST):c.6291C>T (p.Ala2097=)
|
rs199857997
|
0.00016
|
NM_000128.4(F11):c.1431C>T (p.Ser477=)
|
rs149568223
|
0.00016
|
NM_000129.4(F13A1):c.911G>A (p.Arg304Gln)
|
rs139164988
|
0.00016
|
NM_000130.5(F5):c.*838T>C
|
rs376103455
|
0.00016
|
NM_000130.5(F5):c.4972-14A>C
|
rs763080313
|
0.00016
|
NM_000130.5(F5):c.524A>G (p.His175Arg)
|
rs201510575
|
0.00016
|
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
|
rs144937515
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000136.3(FANCC):c.*483A>G
|
rs548064261
|
0.00016
|
NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe)
|
rs750853525
|
0.00016
|
NM_000342.4(SLC4A1):c.*544C>T
|
rs910311843
|
0.00016
|
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)
|
rs147838240
|
0.00016
|
NM_000419.5(ITGA2B):c.1394-14C>T
|
rs368062044
|
0.00016
|
NM_000419.5(ITGA2B):c.2348+15G>A
|
rs200571001
|
0.00016
|
NM_000504.4(F10):c.460G>A (p.Gly154Arg)
|
rs149285827
|
0.00016
|
NM_000504.4(F10):c.747+11G>A
|
rs376728587
|
0.00016
|
NM_000821.7(GGCX):c.*2925G>C
|
rs188039599
|
0.00016
|
NM_000821.7(GGCX):c.*3704G>A
|
rs375566923
|
0.00016
|
NM_000821.7(GGCX):c.*3930T>C
|
rs1046049435
|
0.00016
|
NM_001001548.3(CD36):c.1000A>G (p.Lys334Glu)
|
rs199628571
|
0.00016
|
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)
|
rs370078641
|
0.00016
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
0.00016
|
NM_001063.4(TF):c.1095G>A (p.Ala365=)
|
rs575999145
|
0.00016
|
NM_001063.4(TF):c.165T>A (p.Ser55Arg)
|
rs8177318
|
0.00016
|
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys)
|
rs139848689
|
0.00016
|
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
|
rs200115233
|
0.00016
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser)
|
rs140207191
|
0.00016
|
NM_001375808.2(LPIN2):c.*660A>G
|
rs754769201
|
0.00016
|
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys)
|
rs142378484
|
0.00016
|
NM_002203.4(ITGA2):c.*1356C>T
|
rs771530392
|
0.00016
|
NM_002658.6(PLAU):c.*900A>G
|
rs886047213
|
0.00016
|
NM_003126.4(SPTA1):c.1396G>C (p.Asp466His)
|
rs201669174
|
0.00016
|
NM_003126.4(SPTA1):c.2654G>A (p.Arg885His)
|
rs370989483
|
0.00016
|
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp)
|
rs199725919
|
0.00016
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
0.00016
|
NM_019616.4(F7):c.*938G>A
|
rs778531585
|
0.00016
|
NM_020661.4(AICDA):c.*554T>C
|
rs886049874
|
0.00016
|
NM_021870.3(FGG):c.318C>T (p.Asp106=)
|
rs150242757
|
0.00016
|
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)
|
rs376165374
|
0.00016
|
NM_025215.6(PUS1):c.*122C>T
|
rs747836180
|
0.00016
|
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)
|
rs142040192
|
0.00016
|
NM_032638.5(GATA2):c.*581G>A
|
rs758714164
|
0.00016
|
NM_139025.4(ADAMTS13):c.-280G>A
|
rs777585429
|
0.00016
|
NM_139027.6(ADAMTS13):c.-26C>T
|
rs372036592
|
0.00016
|
NM_139279.6(MCFD2):c.*1187C>T
|
rs550737178
|
0.00016
|
NM_139279.6(MCFD2):c.*2017C>T
|
rs886056111
|
0.00016
|
NM_139279.6(MCFD2):c.*2843T>A
|
rs559142075
|
0.00016
|
NM_139279.6(MCFD2):c.*3014G>A
|
rs886056107
|
0.00016
|
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)
|
rs398124326
|
0.00016
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)
|
rs150376603
|
0.00016
|
NM_173841.2(IL1RN):c.-71A>G
|
rs748164399
|
0.00016
|
NM_181507.2(HPS5):c.*182C>T
|
rs886048074
|
0.00016
|
NM_183235.3(RAB27A):c.*1672T>C
|
rs886051306
|
0.00016
|
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
|
rs144946000
|
0.00016
|
NM_203447.4(DOCK8):c.5296C>T (p.Arg1766Trp)
|
rs201776049
|
0.00016
|
NM_000059.4(BRCA2):c.*390A>G
|
rs56003538
|
0.00015
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000096.4(CP):c.1191C>G (p.Asn397Lys)
|
rs146229133
|
0.00015
|
NM_000096.4(CP):c.151C>T (p.His51Tyr)
|
rs150681942
|
0.00015
|
NM_000128.4(F11):c.596-6G>A
|
rs369721182
|
0.00015
|
NM_000129.4(F13A1):c.102C>T (p.Gly34=)
|
rs187027323
|
0.00015
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
NM_000174.5(GP9):c.203C>T (p.Pro68Leu)
|
rs145472050
|
0.00015
|
NM_000195.5(HPS1):c.1286G>A (p.Arg429His)
|
rs201728087
|
0.00015
|
NM_000211.4(ITGB2):c.-101G>A
|
rs1005306661
|
0.00015
|
NM_000211.5(ITGB2):c.228C>T (p.Asp76=)
|
rs368629638
|
0.00015
|
NM_000212.3(ITGB3):c.*2081T>G
|
rs577778439
|
0.00015
|
NM_000222.3(KIT):c.2484C>T (p.Asn828=)
|
rs141347955
|
0.00015
|
NM_000342.4(SLC4A1):c.*1273G>T
|
rs769140134
|
0.00015
|
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)
|
rs142905862
|
0.00015
|
NM_000373.4(UMPS):c.1273+14C>T
|
rs374339942
|
0.00015
|
NM_000433.4(NCF2):c.*97A>C
|
rs367946786
|
0.00015
|
NM_000552.5(VWF):c.7730-4C>G
|
rs71581030
|
0.00015
|
NM_000602.5(SERPINE1):c.*863C>T
|
rs531982874
|
0.00015
|
NM_000821.7(GGCX):c.*4195T>G
|
rs536985458
|
0.00015
|
NM_001081.4(CUBN):c.*162G>A
|
rs558891678
|
0.00015
|
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu)
|
rs140566726
|
0.00015
|
NM_001375808.2(LPIN2):c.*2557G>A
|
rs890590348
|
0.00015
|
NM_002203.4(ITGA2):c.*1322T>C
|
rs369001095
|
0.00015
|
NM_006947.4(SRP72):c.*635C>T
|
rs200981113
|
0.00015
|
NM_018368.4(LMBRD1):c.*166A>G
|
rs960902863
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)
|
rs200202916
|
0.00015
|
NM_021870.3(FGG):c.1258A>G (p.Ile420Val)
|
rs374917187
|
0.00015
|
NM_022081.6(HPS4):c.1959T>C (p.Asn653=)
|
rs202120615
|
0.00015
|
NM_024006.6(VKORC1):c.*245G>A
|
rs886051932
|
0.00015
|
NM_032043.3(BRIP1):c.*3827T>C
|
rs1377513104
|
0.00015
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=)
|
rs146314458
|
0.00015
|
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
|
rs142793392
|
0.00015
|
NM_183235.3(RAB27A):c.*1473T>C
|
rs568895039
|
0.00015
|
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln)
|
rs200201944
|
0.00015
|
NM_000037.4(ANK1):c.*795A>G
|
rs191346232
|
0.00014
|
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)
|
rs112677283
|
0.00014
|
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln)
|
rs140231188
|
0.00014
|
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)
|
rs150975400
|
0.00014
|
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp)
|
rs145235970
|
0.00014
|
NM_000081.4(LYST):c.7806A>G (p.Gln2602=)
|
rs372754364
|
0.00014
|
NM_000130.5(F5):c.*1237G>A
|
rs979200861
|
0.00014
|
NM_000130.5(F5):c.*2053G>C
|
rs886045534
|
0.00014
|
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)
|
rs200204656
|
0.00014
|
NM_000130.5(F5):c.437G>A (p.Arg146Gln)
|
rs145625079
|
0.00014
|
NM_000135.4(FANCA):c.-18G>A
|
rs886038245
|
0.00014
|
NM_000136.3(FANCC):c.*249C>T
|
rs1046795121
|
0.00014
|
NM_000195.5(HPS1):c.366G>A (p.Leu122=)
|
rs147269809
|
0.00014
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
NM_000211.4(ITGB2):c.-199G>A
|
rs746349537
|
0.00014
|
NM_000211.5(ITGB2):c.159G>A (p.Gly53=)
|
rs200150384
|
0.00014
|
NM_000222.3(KIT):c.2234-3C>T
|
rs370131461
|
0.00014
|
NM_000298.6(PKLR):c.*735A>G
|
rs180944719
|
0.00014
|
NM_000373.4(UMPS):c.*2230C>T
|
rs565272396
|
0.00014
|
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln)
|
rs142803799
|
0.00014
|
NM_000505.4(F12):c.1387+4C>G
|
rs761161412
|
0.00014
|
NM_000506.5(F2):c.559+5G>A
|
rs376151472
|
0.00014
|
NM_000552.5(VWF):c.6931C>T (p.Arg2311Cys)
|
rs150725355
|
0.00014
|
NM_000552.5(VWF):c.8160G>A (p.Glu2720=)
|
rs368802960
|
0.00014
|
NM_000617.3(SLC11A2):c.*2332A>T
|
rs575495762
|
0.00014
|
NM_000821.7(GGCX):c.2081G>A (p.Arg694His)
|
rs140098905
|
0.00014
|
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
|
rs146496253
|
0.00014
|
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=)
|
rs61751577
|
0.00014
|
NM_001063.4(TF):c.1352T>C (p.Val451Ala)
|
rs142116896
|
0.00014
|
NM_001081.4(CUBN):c.*560C>T
|
rs45565931
|
0.00014
|
NM_001081.4(CUBN):c.-35G>C
|
rs376502722
|
0.00014
|
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr)
|
rs148491916
|
0.00014
|
NM_001113378.2(FANCI):c.-10A>G
|
rs372076895
|
0.00014
|
NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu)
|
rs141596199
|
0.00014
|
NM_001114636.1(FANCL):c.-26T>A
|
rs367703311
|
0.00014
|
NM_001250.6(CD40):c.750A>G (p.Pro250=)
|
rs376780996
|
0.00014
|
NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp)
|
rs140758411
|
0.00014
|
NM_001374504.1(TMPRSS6):c.411A>G (p.Gly137=)
|
rs375681801
|
0.00014
|
NM_001386140.1(MTTP):c.*436A>G
|
rs1450371659
|
0.00014
|
NM_001770.6(CD19):c.390T>A (p.Gly130=)
|
rs573154781
|
0.00014
|
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys)
|
rs146182103
|
0.00014
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00014
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
0.00014
|
NM_004629.2(FANCG):c.-1C>T
|
rs587777946
|
0.00014
|
NM_005141.5(FGB):c.*1687A>G
|
rs992721102
|
0.00014
|
NM_005141.5(FGB):c.*1738G>A
|
rs760784701
|
0.00014
|
NM_005476.7(GNE):c.*1038T>C
|
rs975309543
|
0.00014
|
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)
|
rs770374931
|
0.00014
|
NM_012092.4(ICOS):c.*399G>A
|
rs760083763
|
0.00014
|
NM_015175.3(NBEAL2):c.5459+8G>A
|
rs747932446
|
0.00014
|
NM_015175.3(NBEAL2):c.6351C>T (p.Ala2117=)
|
rs374999762
|
0.00014
|
NM_018389.5(SLC35C1):c.*1619C>A
|
rs552263015
|
0.00014
|
NM_018389.5(SLC35C1):c.-569C>T
|
rs886048307
|
0.00014
|
NM_020661.4(AICDA):c.*771T>A
|
rs1189292106
|
0.00014
|
NM_022051.2(EGLN1):c.-437C>T
|
rs886046116
|
0.00014
|
NM_022051.2(EGLN1):c.-901T>C
|
rs886046125
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_032383.5(HPS3):c.694A>G (p.Ile232Val)
|
rs199722122
|
0.00014
|
NM_032444.4(SLX4):c.-398G>A
|
rs559269050
|
0.00014
|
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)
|
rs200178217
|
0.00014
|
NM_139027.6(ADAMTS13):c.539+7G>A
|
rs184864675
|
0.00014
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
NM_152564.5(VPS13B):c.2333+12A>T
|
rs373498932
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=)
|
rs144223843
|
0.00014
|
NM_183235.3(RAB27A):c.*429C>T
|
rs368212830
|
0.00014
|
NM_198253.3(TERT):c.645C>T (p.Gly215=)
|
rs768426236
|
0.00014
|
NM_203447.4(DOCK8):c.5139C>T (p.Asp1713=)
|
rs568641163
|
0.00014
|
NM_203447.4(DOCK8):c.53+10C>T
|
rs763565243
|
0.00014
|
NM_000057.4(BLM):c.-70G>T
|
rs552669203
|
0.00013
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
|
rs201255245
|
0.00013
|
NM_000096.3(CP):c.-165C>T
|
rs536533840
|
0.00013
|
NM_000096.4(CP):c.93G>A (p.Thr31=)
|
rs201521886
|
0.00013
|
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser)
|
rs149048805
|
0.00013
|
NM_000130.5(F5):c.4347G>A (p.Pro1449=)
|
rs145732153
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000195.5(HPS1):c.*1005A>G
|
rs186229582
|
0.00013
|
NM_000195.5(HPS1):c.*403G>A
|
rs886046589
|
0.00013
|
NM_000195.5(HPS1):c.-28G>A
|
rs186783129
|
0.00013
|
NM_000211.5(ITGB2):c.2041G>A (p.Gly681Arg)
|
rs778865777
|
0.00013
|
NM_000211.5(ITGB2):c.714C>T (p.Asp238=)
|
rs752901414
|
0.00013
|
NM_000222.3(KIT):c.*597C>T
|
rs746982052
|
0.00013
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000313.4(PROS1):c.*1046T>C
|
rs546710591
|
0.00013
|
NM_000313.4(PROS1):c.-43G>A
|
rs370938580
|
0.00013
|
NM_000313.4(PROS1):c.585T>C (p.Asn195=)
|
rs372109285
|
0.00013
|
NM_000342.4(SLC4A1):c.876+14G>A
|
rs571092411
|
0.00013
|
NM_000365.6(TPI1):c.543+6C>T
|
rs369693539
|
0.00013
|
NM_000460.4(THPO):c.*404G>A
|
rs573846929
|
0.00013
|
NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys)
|
rs376752370
|
0.00013
|
NM_000617.3(SLC11A2):c.1032C>G (p.Leu344=)
|
rs370750890
|
0.00013
|
NM_000821.7(GGCX):c.*470G>A
|
rs746348970
|
0.00013
|
NM_000821.7(GGCX):c.2254G>C (p.Asp752His)
|
rs201917261
|
0.00013
|
NM_001001548.3(CD36):c.-27C>T
|
rs768286621
|
0.00013
|
NM_001001548.3(CD36):c.430-2A>G
|
rs3211901
|
0.00013
|
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=)
|
rs141824395
|
0.00013
|
NM_001040436.3(YARS2):c.934G>C (p.Asp312His)
|
rs190043383
|
0.00013
|
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=)
|
rs147934193
|
0.00013
|
NM_001243177.4(ALDOA):c.*76C>T
|
rs886051896
|
0.00013
|
NM_001374504.1(TMPRSS6):c.1338G>A (p.Ser446=)
|
rs776737568
|
0.00013
|
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr)
|
rs146424724
|
0.00013
|
NM_001430.5(EPAS1):c.*1225C>T
|
rs553535570
|
0.00013
|
NM_001754.5(RUNX1):c.*1430C>A
|
rs886057043
|
0.00013
|
NM_002203.4(ITGA2):c.*1300C>T
|
rs965526283
|
0.00013
|
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala)
|
rs141789572
|
0.00013
|
NM_004629.2(FANCG):c.-56G>A
|
rs967151809
|
0.00013
|
NM_005141.5(FGB):c.*363A>G
|
rs545671394
|
0.00013
|
NM_005570.4(LMAN1):c.169C>G (p.Leu57Val)
|
rs777224819
|
0.00013
|
NM_006846.4(SPINK5):c.*229A>C
|
rs759149324
|
0.00013
|
NM_012092.4(ICOS):c.*1004C>G
|
rs866710563
|
0.00013
|
NM_012092.4(ICOS):c.*1869A>C
|
rs931854904
|
0.00013
|
NM_015175.3(NBEAL2):c.2532G>A (p.Arg844=)
|
rs759157034
|
0.00013
|
NM_015175.3(NBEAL2):c.3308G>A (p.Arg1103Gln)
|
rs374012992
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)
|
rs369980078
|
0.00013
|
NM_018368.4(LMBRD1):c.*125A>G
|
rs886061689
|
0.00013
|
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=)
|
rs567642788
|
0.00013
|
NM_020661.4(AICDA):c.*670A>T
|
rs886049873
|
0.00013
|
NM_021871.4(FGA):c.*50T>G
|
rs369606098
|
0.00013
|
NM_021922.3(FANCE):c.-100C>T
|
rs374493565
|
0.00013
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
NM_022081.6(HPS4):c.*1209T>C
|
rs749313648
|
0.00013
|
NM_022081.6(HPS4):c.706+8G>C
|
rs3747131
|
0.00013
|
NM_022725.4(FANCF):c.*2074A>G
|
rs576419372
|
0.00013
|
NM_024747.6(HPS6):c.2181A>G (p.Ala727=)
|
rs199518658
|
0.00013
|
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu)
|
rs779631326
|
0.00013
|
NM_032444.4(SLX4):c.*578G>A
|
rs781322530
|
0.00013
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg)
|
rs200327756
|
0.00013
|
NM_172351.3(CD46):c.*1641A>G
|
rs886045843
|
0.00013
|
NM_172351.3(CD46):c.*517T>A
|
rs539666226
|
0.00013
|
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp)
|
rs144492641
|
0.00013
|
NM_000057.4(BLM):c.*142T>C
|
rs1040068612
|
0.00012
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000081.4(LYST):c.2517T>C (p.Ile839=)
|
rs78172154
|
0.00012
|
NM_000130.5(F5):c.*1776A>G
|
rs567224548
|
0.00012
|
NM_000135.4(FANCA):c.4261-9C>G
|
rs368506826
|
0.00012
|
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
|
rs775570414
|
0.00012
|
NM_000298.6(PKLR):c.1117-13C>T
|
rs145132664
|
0.00012
|
NM_000313.4(PROS1):c.1377A>G (p.Gly459=)
|
rs371312357
|
0.00012
|
NM_000355.4(TCN2):c.*18C>T
|
rs371703966
|
0.00012
|
NM_000373.4(UMPS):c.*2159C>T
|
rs559652457
|
0.00012
|
NM_000373.4(UMPS):c.*3374C>G
|
rs143276999
|
0.00012
|
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr)
|
rs375535366
|
0.00012
|
NM_000552.5(VWF):c.5533G>A (p.Asp1845Asn)
|
rs201548925
|
0.00012
|
NM_000821.7(GGCX):c.*1604G>A
|
rs140768153
|
0.00012
|
NM_001001548.3(CD36):c.429+15A>G
|
rs371196837
|
0.00012
|
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)
|
rs201404467
|
0.00012
|
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
NM_001114636.1(FANCL):c.-35C>T
|
rs368688452
|
0.00012
|
NM_001375808.2(LPIN2):c.*2866A>C
|
rs17880885
|
0.00012
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
NM_001430.5(EPAS1):c.*1827C>T
|
rs886056103
|
0.00012
|
NM_001430.5(EPAS1):c.-231C>G
|
rs750848838
|
0.00012
|
NM_001430.5(EPAS1):c.-237C>G
|
rs977976338
|
0.00012
|
NM_001430.5(EPAS1):c.-316C>A
|
rs886056078
|
0.00012
|
NM_001754.5(RUNX1):c.*2532G>A
|
rs886057037
|
0.00012
|
NM_002693.3(POLG):c.*100G>A
|
rs770839560
|
0.00012
|
NM_002693.3(POLG):c.3644-16T>C
|
rs536522307
|
0.00012
|
NM_003126.4(SPTA1):c.4418C>T (p.Thr1473Met)
|
rs187916559
|
0.00012
|
NM_005141.5(FGB):c.*1105A>G
|
rs542187592
|
0.00012
|
NM_005142.3(CBLIF):c.*87G>A
|
rs575272147
|
0.00012
|
NM_005142.3(CBLIF):c.79+3G>A
|
rs146396839
|
0.00012
|
NM_005373.3(MPL):c.690+11C>T
|
rs144769485
|
0.00012
|
NM_005476.7(GNE):c.*252A>C
|
rs745365886
|
0.00012
|
NM_005570.4(LMAN1):c.*571T>C
|
rs541441878
|
0.00012
|
NM_006363.6(SEC23B):c.*494T>C
|
rs561479544
|
0.00012
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
NM_012092.4(ICOS):c.591G>A (p.Val197=)
|
rs55655222
|
0.00012
|
NM_015175.3(NBEAL2):c.544G>A (p.Ala182Thr)
|
rs745890949
|
0.00012
|
NM_018389.5(SLC35C1):c.*1127G>A
|
rs187013469
|
0.00012
|
NM_018389.5(SLC35C1):c.*572C>T
|
rs886048318
|
0.00012
|
NM_019616.4(F7):c.*721A>G
|
rs539255438
|
0.00012
|
NM_022051.2(EGLN1):c.-2169C>T
|
rs886046129
|
0.00012
|
NM_022725.4(FANCF):c.*1630G>A
|
rs559054290
|
0.00012
|
NM_024747.6(HPS6):c.112C>G (p.Pro38Ala)
|
rs746813506
|
0.00012
|
NM_032043.3(BRIP1):c.*2656A>G
|
rs1052477488
|
0.00012
|
NM_032043.3(BRIP1):c.*4053T>C
|
rs191840743
|
0.00012
|
NM_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
|
rs373586019
|
0.00012
|
NM_080669.6(SLC46A1):c.*1076G>A
|
rs151184490
|
0.00012
|
NM_080669.6(SLC46A1):c.*2636C>A
|
rs782382359
|
0.00012
|
NM_138477.4(CDAN1):c.-8C>T
|
rs764807565
|
0.00012
|
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser)
|
rs146810840
|
0.00012
|
NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln)
|
rs199753863
|
0.00012
|
NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=)
|
rs778218831
|
0.00012
|
NM_139276.3(STAT3):c.*1497G>A
|
rs190710939
|
0.00012
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)
|
rs147413884
|
0.00012
|
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)
|
rs755219802
|
0.00011
|
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)
|
rs140964621
|
0.00011
|
NM_000037.4(ANK1):c.3984+12C>T
|
rs200019819
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000061.3(BTK):c.*390G>A
|
rs782012349
|
0.00011
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
NM_000096.4(CP):c.*572A>G
|
rs561191589
|
0.00011
|
NM_000096.4(CP):c.3006C>T (p.Ser1002=)
|
rs199877380
|
0.00011
|
NM_000096.4(CP):c.782-3C>T
|
rs375191868
|
0.00011
|
NM_000129.4(F13A1):c.2036A>T (p.Lys679Met)
|
rs201302247
|
0.00011
|
NM_000136.3(FANCC):c.*984G>A
|
rs3780559
|
0.00011
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000174.5(GP9):c.423G>A (p.Ala141=)
|
rs553559631
|
0.00011
|
NM_000211.5(ITGB2):c.1969G>A (p.Val657Met)
|
rs376990045
|
0.00011
|
NM_000211.5(ITGB2):c.537C>T (p.Phe179=)
|
rs371548080
|
0.00011
|
NM_000211.5(ITGB2):c.625A>C (p.Lys209Gln)
|
rs769571214
|
0.00011
|
NM_000212.3(ITGB3):c.*1292G>T
|
rs779099404
|
0.00011
|
NM_000222.3(KIT):c.978C>T (p.Asn326=)
|
rs148594615
|
0.00011
|
NM_000289.6(PFKM):c.*3C>T
|
rs367783282
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
NM_000384.3(APOB):c.11466G>A (p.Val3822=)
|
rs755842633
|
0.00011
|
NM_000419.5(ITGA2B):c.1628G>A (p.Arg543Gln)
|
rs139770734
|
0.00011
|
NM_000505.4(F12):c.-3G>A
|
rs201346142
|
0.00011
|
NM_000506.5(F2):c.*9T>G
|
rs201577861
|
0.00011
|
NM_000552.5(VWF):c.7770+13C>A
|
rs368470281
|
0.00011
|
NM_000552.5(VWF):c.858C>T (p.Thr286=)
|
rs776206258
|
0.00011
|
NM_000602.5(SERPINE1):c.*585G>T
|
rs1035342388
|
0.00011
|
NM_001001548.3(CD36):c.13C>T (p.Arg5Trp)
|
rs752841786
|
0.00011
|
NM_001018113.3(FANCB):c.*151A>G
|
rs1480015600
|
0.00011
|
NM_001040436.3(YARS2):c.180G>A (p.Glu60=)
|
rs137922867
|
0.00011
|
NM_001040436.3(YARS2):c.819A>G (p.Leu273=)
|
rs149781186
|
0.00011
|
NM_001063.4(TF):c.215C>T (p.Ala72Val)
|
rs142819812
|
0.00011
|
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
|
rs139051724
|
0.00011
|
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)
|
rs201938886
|
0.00011
|
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
|
rs748823977
|
0.00011
|
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)
|
rs143291127
|
0.00011
|
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)
|
rs184746130
|
0.00011
|
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)
|
rs200124646
|
0.00011
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser)
|
rs369068948
|
0.00011
|
NM_001375808.2(LPIN2):c.1169-3C>T
|
rs200259086
|
0.00011
|
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu)
|
rs147203309
|
0.00011
|
NM_001430.5(EPAS1):c.-357G>C
|
rs1028727219
|
0.00011
|
NM_001754.5(RUNX1):c.*2217dup
|
rs750408603
|
0.00011
|
NM_002203.4(ITGA2):c.*1346C>T
|
rs1055904276
|
0.00011
|
NM_002203.4(ITGA2):c.*465T>C
|
rs1021854035
|
0.00011
|
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met)
|
rs758626716
|
0.00011
|
NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe)
|
rs772331386
|
0.00011
|
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly)
|
rs753810749
|
0.00011
|
NM_005141.5(FGB):c.200G>C (p.Ser67Thr)
|
rs371842822
|
0.00011
|
NM_005142.3(CBLIF):c.256+10C>T
|
rs369960390
|
0.00011
|
NM_005373.3(MPL):c.*86C>T
|
rs777930147
|
0.00011
|
NM_005476.7(GNE):c.*2537G>A
|
rs1042849497
|
0.00011
|
NM_005570.4(LMAN1):c.*492T>C
|
rs755899010
|
0.00011
|
NM_006206.6(PDGFRA):c.*2604G>T
|
rs547925170
|
0.00011
|
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys)
|
rs370311628
|
0.00011
|
NM_012092.4(ICOS):c.597A>G (p.Leu199=)
|
rs145698501
|
0.00011
|
NM_015175.3(NBEAL2):c.2062C>T (p.Arg688Cys)
|
rs201210287
|
0.00011
|
NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met)
|
rs376623029
|
0.00011
|
NM_017875.4(SLC25A38):c.*404G>A
|
rs886058473
|
0.00011
|
NM_017875.4(SLC25A38):c.-227G>A
|
rs886058468
|
0.00011
|
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys)
|
rs200791957
|
0.00011
|
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)
|
rs531290475
|
0.00011
|
NM_022051.3(EGLN1):c.-37G>C
|
rs779132675
|
0.00011
|
NM_022081.6(HPS4):c.*2171C>T
|
rs1013987506
|
0.00011
|
NM_022081.6(HPS4):c.-479+5G>A
|
rs886057322
|
0.00011
|
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys)
|
rs369104384
|
0.00011
|
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)
|
rs150057646
|
0.00011
|
NM_022725.4(FANCF):c.*1420A>G
|
rs414664
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
|
rs770020510
|
0.00011
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
NM_032638.5(GATA2):c.-193C>T
|
rs886057935
|
0.00011
|
NM_080669.6(SLC46A1):c.*1094A>G
|
rs782533706
|
0.00011
|
NM_080669.6(SLC46A1):c.*1249G>A
|
rs781824816
|
0.00011
|
NM_080669.6(SLC46A1):c.*2868G>A
|
rs1028128966
|
0.00011
|
NM_080669.6(SLC46A1):c.*4804T>A
|
rs781937251
|
0.00011
|
NM_138387.4(G6PC3):c.-164G>A
|
rs886052985
|
0.00011
|
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp)
|
rs138557340
|
0.00011
|
NM_138477.4(CDAN1):c.2947+9C>A
|
rs372998688
|
0.00011
|
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln)
|
rs910234195
|
0.00011
|
NM_139276.3(STAT3):c.*260G>A
|
rs886052940
|
0.00011
|
NM_139279.6(MCFD2):c.*418C>G
|
rs1043866618
|
0.00011
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val)
|
rs755658263
|
0.00011
|
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
0.00010
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=)
|
rs146457386
|
0.00010
|
NM_000081.4(LYST):c.196T>C (p.Leu66=)
|
rs138393416
|
0.00010
|
NM_000096.4(CP):c.1357A>G (p.Ile453Val)
|
rs145762017
|
0.00010
|
NM_000128.4(F11):c.*902G>A
|
rs555668089
|
0.00010
|
NM_000129.4(F13A1):c.*628G>A
|
rs886061656
|
0.00010
|
NM_000129.4(F13A1):c.*927G>A
|
rs746364189
|
0.00010
|
NM_000130.5(F5):c.1128G>T (p.Arg376Ser)
|
rs373172802
|
0.00010
|
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)
|
rs374118662
|
0.00010
|
NM_000130.5(F5):c.3089G>A (p.Arg1030Gln)
|
rs758795781
|
0.00010
|
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)
|
rs146312772
|
0.00010
|
NM_000132.4(F8):c.*1731T>C
|
rs782700848
|
0.00010
|
NM_000136.3(FANCC):c.*1332A>G
|
rs191983554
|
0.00010
|
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=)
|
rs373452460
|
0.00010
|
NM_000211.5(ITGB2):c.77C>G (p.Thr26Arg)
|
rs148038936
|
0.00010
|
NM_000211.5(ITGB2):c.892G>A (p.Glu298Lys)
|
rs368371881
|
0.00010
|
NM_000212.3(ITGB3):c.985A>G (p.Asn329Asp)
|
rs201550717
|
0.00010
|
NM_000222.3(KIT):c.*1086C>T
|
rs533152310
|
0.00010
|
NM_000289.6(PFKM):c.-17G>C
|
rs952485517
|
0.00010
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)
|
rs368774068
|
0.00010
|
NM_000365.6(TPI1):c.-11G>A
|
rs199634350
|
0.00010
|
NM_000373.4(UMPS):c.*4178A>G
|
rs758463509
|
0.00010
|
NM_000373.4(UMPS):c.*4215C>T
|
rs780219461
|
0.00010
|
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val)
|
rs202158549
|
0.00010
|
NM_000460.4(THPO):c.579C>T (p.Asn193=)
|
rs202166253
|
0.00010
|
NM_000460.4(THPO):c.889A>G (p.Thr297Ala)
|
rs530613857
|
0.00010
|
NM_000504.4(F10):c.257-12C>T
|
rs372691873
|
0.00010
|
NM_000519.4(HBD):c.*59C>G
|
rs755421119
|
0.00010
|
NM_000552.5(VWF):c.250C>T (p.Leu84Phe)
|
rs372664002
|
0.00010
|
NM_000602.5(SERPINE1):c.*1295C>T
|
rs372017980
|
0.00010
|
NM_000617.3(SLC11A2):c.-50G>A
|
rs886049570
|
0.00010
|
NM_001001547.3(CD36):c.-208C>T
|
rs886062451
|
0.00010
|
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=)
|
rs200118565
|
0.00010
|
NM_001040436.3(YARS2):c.*142T>C
|
rs190589666
|
0.00010
|
NM_001063.4(TF):c.1044C>T (p.Gly348=)
|
rs139468631
|
0.00010
|
NM_001081.4(CUBN):c.*786T>C
|
rs886046853
|
0.00010
|
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)
|
rs145909413
|
0.00010
|
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001375808.2(LPIN2):c.*155G>C
|
rs1470550539
|
0.00010
|
NM_001375808.2(LPIN2):c.*778C>T
|
rs924335721
|
0.00010
|
NM_001754.5(RUNX1):c.*2376G>A
|
rs572680643
|
0.00010
|
NM_001754.5(RUNX1):c.*2531C>T
|
rs112662011
|
0.00010
|
NM_001754.5(RUNX1):c.*4188G>C
|
rs761390141
|
0.00010
|
NM_001770.6(CD19):c.171G>A (p.Pro57=)
|
rs199665700
|
0.00010
|
NM_001814.6(CTSC):c.29C>T (p.Ala10Val)
|
rs765499436
|
0.00010
|
NM_002658.6(PLAU):c.*753C>T
|
rs545559536
|
0.00010
|
NM_002658.6(PLAU):c.-32+9C>G
|
rs538342269
|
0.00010
|
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn)
|
rs200529208
|
0.00010
|
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln)
|
rs36057043
|
0.00010
|
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro)
|
rs200308788
|
0.00010
|
NM_003664.5(AP3B1):c.*101T>C
|
rs766029582
|
0.00010
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
NM_004629.2(FANCG):c.*250C>T
|
rs535188841
|
0.00010
|
NM_005142.3(CBLIF):c.1107C>T (p.Val369=)
|
rs537424617
|
0.00010
|
NM_005373.3(MPL):c.*1674A>T
|
rs536844021
|
0.00010
|
NM_005476.7(GNE):c.*2847T>C
|
rs886063915
|
0.00010
|
NM_005476.7(GNE):c.*2877T>C
|
rs886063914
|
0.00010
|
NM_005570.4(LMAN1):c.*1631A>G
|
rs767155286
|
0.00010
|
NM_005570.4(LMAN1):c.27C>G (p.Leu9=)
|
rs747955217
|
0.00010
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
NM_006563.5(KLF1):c.*311A>G
|
rs767532783
|
0.00010
|
NM_006996.3(SLC19A2):c.*1928T>C
|
rs776987873
|
0.00010
|
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His)
|
rs368310677
|
0.00010
|
NM_015175.3(NBEAL2):c.3135G>A (p.Met1045Ile)
|
rs373596976
|
0.00010
|
NM_015175.3(NBEAL2):c.4246G>A (p.Gly1416Ser)
|
rs781701383
|
0.00010
|
NM_015175.3(NBEAL2):c.5381C>T (p.Thr1794Met)
|
rs146899838
|
0.00010
|
NM_015175.3(NBEAL2):c.7280G>A (p.Arg2427His)
|
rs199764240
|
0.00010
|
NM_015175.3(NBEAL2):c.8096G>A (p.Arg2699His)
|
rs376357238
|
0.00010
|
NM_018368.4(LMBRD1):c.*384A>C
|
rs536469891
|
0.00010
|
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu)
|
rs143902143
|
0.00010
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu)
|
rs374572943
|
0.00010
|
NM_024747.6(HPS6):c.727C>A (p.Pro243Thr)
|
rs767667481
|
0.00010
|
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)
|
rs781373708
|
0.00010
|
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu)
|
rs577273287
|
0.00010
|
NM_032444.4(SLX4):c.*168T>G
|
rs886051975
|
0.00010
|
NM_032444.4(SLX4):c.1911G>T (p.Ser637=)
|
rs200013924
|
0.00010
|
NM_032638.5(GATA2):c.*32C>T
|
rs374495352
|
0.00010
|
NM_080669.6(SLC46A1):c.*3959C>G
|
rs886052738
|
0.00010
|
NM_080669.6(SLC46A1):c.-67G>T
|
rs782796764
|
0.00010
|
NM_080911.3(UNG):c.*313C>G
|
rs886048909
|
0.00010
|
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln)
|
rs200050824
|
0.00010
|
NM_138477.4(CDAN1):c.2007+10C>T
|
rs372645598
|
0.00010
|
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg)
|
rs150491625
|
0.00010
|
NM_138477.4(CDAN1):c.2541+14G>A
|
rs199780617
|
0.00010
|
NM_138477.4(CDAN1):c.3169C>T (p.Leu1057=)
|
rs61746359
|
0.00010
|
NM_139027.6(ADAMTS13):c.3400+23C>T
|
rs200547311
|
0.00010
|
NM_139276.3(STAT3):c.*1645C>T
|
rs1055885995
|
0.00010
|
NM_139279.6(MCFD2):c.*3293A>C
|
rs763634945
|
0.00010
|
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His)
|
rs186644576
|
0.00010
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser)
|
rs778256097
|
0.00010
|
NM_181507.2(HPS5):c.-82T>G
|
rs1452519401
|
0.00010
|
NM_181507.2(HPS5):c.1012A>C (p.Asn338His)
|
rs144134556
|
0.00010
|
NM_183235.3(RAB27A):c.*1296T>G
|
rs560689599
|
0.00010
|
NM_203447.4(DOCK8):c.2393A>G (p.Lys798Arg)
|
rs140546511
|
0.00010
|
NM_203447.4(DOCK8):c.53+11C>T
|
rs764626266
|
0.00010
|
NM_206965.2(FTCD):c.1291del (p.Glu431fs)
|
rs775788856
|
0.00010
|
NM_206965.2(FTCD):c.476C>T (p.Ala159Val)
|
rs200652518
|
0.00010
|
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)
|
rs534680895
|
0.00009
|
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)
|
rs142542271
|
0.00009
|
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)
|
rs748160803
|
0.00009
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000061.3(BTK):c.*342T>G
|
rs781937023
|
0.00009
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
NM_000128.4(F11):c.*346A>G
|
rs1033944547
|
0.00009
|
NM_000128.4(F11):c.1305-14T>C
|
rs199761451
|
0.00009
|
NM_000129.4(F13A1):c.*619C>T
|
rs191569585
|
0.00009
|
NM_000129.4(F13A1):c.*934G>A
|
rs921932200
|
0.00009
|
NM_000130.5(F5):c.*1432C>T
|
rs886045536
|
0.00009
|
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln)
|
rs369516642
|
0.00009
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
NM_000136.3(FANCC):c.*267G>A
|
rs769817519
|
0.00009
|
NM_000136.3(FANCC):c.1073-5C>T
|
rs375613884
|
0.00009
|
NM_000174.5(GP9):c.131C>T (p.Thr44Met)
|
rs750293970
|
0.00009
|
NM_000174.5(GP9):c.334C>T (p.Arg112Cys)
|
rs200489927
|
0.00009
|
NM_000195.5(HPS1):c.*626C>T
|
rs776700327
|
0.00009
|
NM_000195.5(HPS1):c.179C>T (p.Thr60Met)
|
rs200004304
|
0.00009
|
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys)
|
rs375322422
|
0.00009
|
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp)
|
rs3830014
|
0.00009
|
NM_000204.5(CFI):c.454G>A (p.Val152Met)
|
rs367677199
|
0.00009
|
NM_000211.5(ITGB2):c.729C>T (p.Val243=)
|
rs199735877
|
0.00009
|
NM_000212.3(ITGB3):c.16C>T (p.Arg6Trp)
|
rs752525603
|
0.00009
|
NM_000312.4(PROC):c.*170G>T
|
rs563767423
|
0.00009
|
NM_000313.4(PROS1):c.684C>T (p.Cys228=)
|
rs377173471
|
0.00009
|
NM_000342.4(SLC4A1):c.*1409T>C
|
rs891382961
|
0.00009
|
NM_000355.4(TCN2):c.*520T>C
|
rs953408654
|
0.00009
|
NM_000373.4(UMPS):c.*1192C>T
|
rs771857226
|
0.00009
|
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)
|
rs373477107
|
0.00009
|
NM_000419.5(ITGA2B):c.1366G>A (p.Val456Ile)
|
rs142111372
|
0.00009
|
NM_000433.3(NCF2):c.-264C>T
|
rs150182900
|
0.00009
|
NM_000460.4(THPO):c.*27A>G
|
rs201864435
|
0.00009
|
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)
|
rs369524182
|
0.00009
|
NM_000504.4(F10):c.142A>C (p.Met48Leu)
|
rs201731360
|
0.00009
|
NM_000506.5(F2):c.317-4G>A
|
rs375713715
|
0.00009
|
NM_000552.5(VWF):c.6908C>T (p.Thr2303Met)
|
rs149432685
|
0.00009
|
NM_000602.5(SERPINE1):c.*1784del
|
rs886061844
|
0.00009
|
NM_000602.5(SERPINE1):c.537C>T (p.Ala179=)
|
rs376407844
|
0.00009
|
NM_000617.3(SLC11A2):c.-39G>A
|
rs751410203
|
0.00009
|
NM_000619.3(IFNG):c.285C>T (p.Thr95=)
|
rs142375196
|
0.00009
|
NM_000821.7(GGCX):c.*3393C>T
|
rs868109874
|
0.00009
|
NM_000821.7(GGCX):c.*3581C>T
|
rs1019659963
|
0.00009
|
NM_000821.7(GGCX):c.*3756A>G
|
rs766023039
|
0.00009
|
NM_000821.7(GGCX):c.26G>A (p.Arg9Gln)
|
rs745564526
|
0.00009
|
NM_000821.7(GGCX):c.507T>C (p.Phe169=)
|
rs536257863
|
0.00009
|
NM_001001548.3(CD36):c.1279G>T (p.Ala427Ser)
|
rs201527696
|
0.00009
|
NM_001001548.3(CD36):c.875G>T (p.Arg292Ile)
|
rs200757788
|
0.00009
|
NM_001018113.3(FANCB):c.-111A>G
|
rs185118376
|
0.00009
|
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)
|
rs150075366
|
0.00009
|
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=)
|
rs780547790
|
0.00009
|
NM_001040436.3(YARS2):c.*627A>T
|
rs886049303
|
0.00009
|
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser)
|
rs150304121
|
0.00009
|
NM_001063.3(TF):c.-117G>A
|
rs540606355
|
0.00009
|
NM_001063.4(TF):c.585G>A (p.Gly195=)
|
rs376851470
|
0.00009
|
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
|
rs754645310
|
0.00009
|
NM_001081.4(CUBN):c.1111+5T>C
|
rs199662739
|
0.00009
|
NM_001081.4(CUBN):c.2483G>A (p.Arg828His)
|
rs199527884
|
0.00009
|
NM_001081.4(CUBN):c.536G>T (p.Gly179Val)
|
rs370373276
|
0.00009
|
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)
|
rs181991723
|
0.00009
|
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)
|
rs766855509
|
0.00009
|
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)
|
rs140965103
|
0.00009
|
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg)
|
rs200026076
|
0.00009
|
NM_001243177.4(ALDOA):c.*101G>A
|
rs539833998
|
0.00009
|
NM_001243177.4(ALDOA):c.*72T>G
|
rs886051895
|
0.00009
|
NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His)
|
rs768158521
|
0.00009
|
NM_001374504.1(TMPRSS6):c.882G>A (p.Ala294=)
|
rs370192027
|
0.00009
|
NM_001375808.2(LPIN2):c.*773C>T
|
rs190290283
|
0.00009
|
NM_001375808.2(LPIN2):c.*810G>A
|
rs769197357
|
0.00009
|
NM_001754.5(RUNX1):c.*1788A>G
|
rs529044293
|
0.00009
|
NM_001770.6(CD19):c.*180C>T
|
rs886051890
|
0.00009
|
NM_001770.6(CD19):c.988A>G (p.Thr330Ala)
|
rs373066835
|
0.00009
|
NM_001814.6(CTSC):c.-49C>T
|
rs779871521
|
0.00009
|
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys)
|
rs200627023
|
0.00009
|
NM_001994.3(F13B):c.1320A>G (p.Glu440=)
|
rs147383994
|
0.00009
|
NM_002203.4(ITGA2):c.*3820T>C
|
rs886060692
|
0.00009
|
NM_002693.3(POLG):c.*122G>A
|
rs886051517
|
0.00009
|
NM_002693.3(POLG):c.*44G>C
|
rs563185483
|
0.00009
|
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)
|
rs369125471
|
0.00009
|
NM_003126.4(SPTA1):c.5808G>A (p.Lys1936=)
|
rs766829938
|
0.00009
|
NM_003126.4(SPTA1):c.6601-10G>A
|
rs753769799
|
0.00009
|
NM_003664.5(AP3B1):c.537-9A>G
|
rs372285421
|
0.00009
|
NM_005141.5(FGB):c.*1372T>A
|
rs371670019
|
0.00009
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
0.00009
|
NM_005373.3(MPL):c.*970C>T
|
rs777372120
|
0.00009
|
NM_005373.3(MPL):c.*971G>A
|
rs886046355
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00009
|
NM_005570.4(LMAN1):c.*2099C>T
|
rs765984474
|
0.00009
|
NM_006118.4(HAX1):c.*47A>G
|
rs183456651
|
0.00009
|
NM_006846.4(SPINK5):c.*301C>T
|
rs187725907
|
0.00009
|
NM_006947.4(SRP72):c.*839T>C
|
rs757066668
|
0.00009
|
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)
|
rs769397647
|
0.00009
|
NM_014915.3(ANKRD26):c.*482A>C
|
rs760890734
|
0.00009
|
NM_015175.3(NBEAL2):c.*244C>G
|
rs886058610
|
0.00009
|
NM_015175.3(NBEAL2):c.1053G>A (p.Ala351=)
|
rs185057557
|
0.00009
|
NM_015175.3(NBEAL2):c.1871G>A (p.Arg624Gln)
|
rs374527787
|
0.00009
|
NM_015175.3(NBEAL2):c.3291G>A (p.Ala1097=)
|
rs369931526
|
0.00009
|
NM_015175.3(NBEAL2):c.4126A>G (p.Ser1376Gly)
|
rs369363563
|
0.00009
|
NM_015175.3(NBEAL2):c.4245C>T (p.Asp1415=)
|
rs371129706
|
0.00009
|
NM_015175.3(NBEAL2):c.6157C>T (p.Arg2053Cys)
|
rs768389780
|
0.00009
|
NM_015175.3(NBEAL2):c.7135-13C>T
|
rs767606190
|
0.00009
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
NM_018368.4(LMBRD1):c.*26A>G
|
rs758279877
|
0.00009
|
NM_021871.4(FGA):c.616C>G (p.Gln206Glu)
|
rs560732073
|
0.00009
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
NM_022081.6(HPS4):c.*469C>T
|
rs959233919
|
0.00009
|
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
|
rs180729981
|
0.00009
|
NM_022725.4(FANCF):c.*1512A>G
|
rs571200561
|
0.00009
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_025215.6(PUS1):c.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
NM_032043.3(BRIP1):c.*1792G>A
|
rs746869920
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly)
|
rs147557809
|
0.00009
|
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu)
|
rs140810728
|
0.00009
|
NM_032444.4(SLX4):c.*887C>T
|
rs557729822
|
0.00009
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
|
rs72778139
|
0.00009
|
NM_032844.4(MASTL):c.-254T>G
|
rs553530687
|
0.00009
|
NM_080669.6(SLC46A1):c.*4323C>G
|
rs561043242
|
0.00009
|
NM_138387.4(G6PC3):c.-178C>A
|
rs767632217
|
0.00009
|
NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly)
|
rs148074362
|
0.00009
|
NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln)
|
rs139951127
|
0.00009
|
NM_139027.6(ADAMTS13):c.3788C>T (p.Thr1263Met)
|
rs375824927
|
0.00009
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala)
|
rs374124369
|
0.00009
|
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val)
|
rs369100428
|
0.00009
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
NM_172351.3(CD46):c.*1614G>A
|
rs533116649
|
0.00009
|
NM_173842.3(IL1RN):c.*605T>C
|
rs965074033
|
0.00009
|
NM_181507.2(HPS5):c.2247A>G (p.Val749=)
|
rs139004989
|
0.00009
|
NM_183235.3(RAB27A):c.*1842C>T
|
rs1030465363
|
0.00009
|
NM_183235.3(RAB27A):c.-58A>G
|
rs572723752
|
0.00009
|
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
|
rs139025012
|
0.00009
|
NM_198253.3(TERT):c.1974G>A (p.Val658=)
|
rs778496417
|
0.00009
|
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)
|
rs758494245
|
0.00009
|
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys)
|
rs535305490
|
0.00009
|
NM_203447.4(DOCK8):c.5266A>C (p.Ile1756Leu)
|
rs373154957
|
0.00009
|
NM_203447.4(DOCK8):c.6120G>A (p.Arg2040=)
|
rs150524921
|
0.00009
|
NM_000037.4(ANK1):c.*1603C>G
|
rs746821020
|
0.00008
|
NM_000037.4(ANK1):c.*31C>T
|
rs371773460
|
0.00008
|
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)
|
rs750068521
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
NM_000128.4(F11):c.*952G>A
|
rs886059303
|
0.00008
|
NM_000132.4(F8):c.2696G>A (p.Ser899Asn)
|
rs145089334
|
0.00008
|
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr)
|
rs200973120
|
0.00008
|
NM_000212.3(ITGB3):c.180C>T (p.Gly60=)
|
rs373101628
|
0.00008
|
NM_000222.3(KIT):c.*17G>A
|
rs377596175
|
0.00008
|
NM_000312.4(PROC):c.678+10G>A
|
rs776905824
|
0.00008
|
NM_000313.4(PROS1):c.*1139C>A
|
rs886058922
|
0.00008
|
NM_000313.4(PROS1):c.503A>G (p.Asn168Ser)
|
rs144430063
|
0.00008
|
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser)
|
rs199728304
|
0.00008
|
NM_000373.4(UMPS):c.*4119T>C
|
rs747201281
|
0.00008
|
NM_000384.3(APOB):c.2160C>T (p.Tyr720=)
|
rs756184175
|
0.00008
|
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)
|
rs200623857
|
0.00008
|
NM_000384.3(APOB):c.6656G>A (p.Arg2219His)
|
rs200106845
|
0.00008
|
NM_000419.5(ITGA2B):c.671-15T>C
|
rs200877591
|
0.00008
|
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala)
|
rs531137446
|
0.00008
|
NM_000504.4(F10):c.7C>T (p.Arg3Cys)
|
rs149972574
|
0.00008
|
NM_000617.3(SLC11A2):c.*1739C>T
|
rs766628921
|
0.00008
|
NM_001018113.3(FANCB):c.-230A>T
|
rs1020271259
|
0.00008
|
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala)
|
rs145099733
|
0.00008
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
NM_001063.4(TF):c.*361T>C
|
rs952581393
|
0.00008
|
NM_001063.4(TF):c.-18C>T
|
rs781336514
|
0.00008
|
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
|
rs200330356
|
0.00008
|
NM_001081.4(CUBN):c.2446+11A>G
|
rs372125740
|
0.00008
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
0.00008
|
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
|
rs144942741
|
0.00008
|
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)
|
rs368697251
|
0.00008
|
NM_001172303.3(MASTL):c.2197G>A (p.Val733Ile)
|
rs140272771
|
0.00008
|
NM_001172303.3(MASTL):c.748G>A (p.Val250Ile)
|
rs750516173
|
0.00008
|
NM_001243177.4(ALDOA):c.275-5C>T
|
rs752764982
|
0.00008
|
NM_001374504.1(TMPRSS6):c.*212T>A
|
rs781781005
|
0.00008
|
NM_001375808.2(LPIN2):c.*984T>C
|
rs546238775
|
0.00008
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
NM_001770.6(CD19):c.323A>C (p.Gln108Pro)
|
rs776903049
|
0.00008
|
NM_003126.4(SPTA1):c.*341T>G
|
rs867313542
|
0.00008
|
NM_003126.4(SPTA1):c.2875C>T (p.Arg959Trp)
|
rs567687301
|
0.00008
|
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)
|
rs375016862
|
0.00008
|
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)
|
rs781129632
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_005570.4(LMAN1):c.*319A>G
|
rs1005400095
|
0.00008
|
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr)
|
rs773290230
|
0.00008
|
NM_006846.4(SPINK5):c.1431-10T>G
|
rs759079847
|
0.00008
|
NM_006947.4(SRP72):c.*1483A>G
|
rs566533583
|
0.00008
|
NM_015175.3(NBEAL2):c.690G>C (p.Leu230=)
|
rs181297174
|
0.00008
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
NM_019616.4(F7):c.*541C>T
|
rs1000315742
|
0.00008
|
NM_019616.4(F7):c.*991G>A
|
rs3093254
|
0.00008
|
NM_019616.4(F7):c.988G>A (p.Ala330Thr)
|
rs3093267
|
0.00008
|
NM_021870.3(FGG):c.620A>G (p.Tyr207Cys)
|
rs775086103
|
0.00008
|
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)
|
rs200083899
|
0.00008
|
NM_022725.4(FANCF):c.*336C>A
|
rs750128615
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)
|
rs763529688
|
0.00008
|
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln)
|
rs372956623
|
0.00008
|
NM_032444.4(SLX4):c.630A>G (p.Leu210=)
|
rs746155183
|
0.00008
|
NM_080669.6(SLC46A1):c.*3985A>T
|
rs1031838882
|
0.00008
|
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)
|
rs41297067
|
0.00008
|
NM_080911.3(UNG):c.*522A>G
|
rs189054927
|
0.00008
|
NM_138387.4(G6PC3):c.727G>A (p.Val243Met)
|
rs140785361
|
0.00008
|
NM_139027.6(ADAMTS13):c.2827C>T (p.Arg943Trp)
|
rs149265456
|
0.00008
|
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln)
|
rs200273776
|
0.00008
|
NM_139276.3(STAT3):c.*2002G>A
|
rs531760487
|
0.00008
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)
|
rs199559979
|
0.00008
|
NM_172351.3(CD46):c.887C>T (p.Ala296Val)
|
rs753859532
|
0.00008
|
NM_173842.3(IL1RN):c.*75C>G
|
rs4252026
|
0.00008
|
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)
|
rs371346921
|
0.00008
|
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu)
|
rs757760608
|
0.00008
|
NM_198253.3(TERT):c.2127C>G (p.Val709=)
|
rs765264494
|
0.00008
|
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr)
|
rs375665207
|
0.00008
|
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=)
|
rs753242273
|
0.00008
|
NM_000037.4(ANK1):c.*372T>C
|
rs1042068456
|
0.00007
|
NM_000037.4(ANK1):c.1535G>A (p.Arg512His)
|
rs371259018
|
0.00007
|
NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg)
|
rs750580242
|
0.00007
|
NM_000061.3(BTK):c.1977C>T (p.Ser659=)
|
rs782047787
|
0.00007
|
NM_000064.4(C3):c.1758G>A (p.Glu586=)
|
rs764201055
|
0.00007
|
NM_000081.4(LYST):c.3931A>G (p.Met1311Val)
|
rs376718077
|
0.00007
|
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)
|
rs187293972
|
0.00007
|
NM_000116.5(TAFAZZIN):c.*618A>G
|
rs781924638
|
0.00007
|
NM_000128.4(F11):c.1200G>A (p.Pro400=)
|
rs150377265
|
0.00007
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)
|
rs1800294
|
0.00007
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
NM_000136.3(FANCC):c.*1028C>T
|
rs556229977
|
0.00007
|
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
|
rs147125175
|
0.00007
|
NM_000195.5(HPS1):c.90C>T (p.Phe30=)
|
rs765362355
|
0.00007
|
NM_000204.5(CFI):c.60C>T (p.Val20=)
|
rs776132010
|
0.00007
|
NM_000211.5(ITGB2):c.2283C>T (p.Val761=)
|
rs192197684
|
0.00007
|
NM_000211.5(ITGB2):c.483C>T (p.Thr161=)
|
rs750060536
|
0.00007
|
NM_000212.3(ITGB3):c.*1505G>T
|
rs760779885
|
0.00007
|
NM_000313.4(PROS1):c.563A>G (p.Asn188Ser)
|
rs146070827
|
0.00007
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00007
|
NM_000419.5(ITGA2B):c.1439+8C>T
|
rs371050454
|
0.00007
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_000821.7(GGCX):c.*285G>A
|
rs893789215
|
0.00007
|
NM_001001547.3(CD36):c.-209C>T
|
rs539733007
|
0.00007
|
NM_001018115.3(FANCD2):c.4281+328G>T
|
rs1231972897
|
0.00007
|
NM_001063.4(TF):c.1615G>A (p.Ala539Thr)
|
rs369813809
|
0.00007
|
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
|
rs147772422
|
0.00007
|
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
|
rs749462295
|
0.00007
|
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)
|
rs138758085
|
0.00007
|
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
|
rs377258631
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_001114134.2(EPB42):c.177G>A (p.Val59=)
|
rs370961712
|
0.00007
|
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu)
|
rs200509497
|
0.00007
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
NM_001375808.2(LPIN2):c.*1026C>T
|
rs529650414
|
0.00007
|
NM_001430.5(EPAS1):c.*527G>T
|
rs886056091
|
0.00007
|
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=)
|
rs755579146
|
0.00007
|
NM_002203.4(ITGA2):c.*2367G>A
|
rs1026813584
|
0.00007
|
NM_002658.6(PLAU):c.*921T>C
|
rs868098697
|
0.00007
|
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=)
|
rs369988146
|
0.00007
|
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu)
|
rs138751237
|
0.00007
|
NM_005476.7(GNE):c.1293T>A (p.Val431=)
|
rs143485388
|
0.00007
|
NM_005570.4(LMAN1):c.638C>T (p.Thr213Ile)
|
rs144038994
|
0.00007
|
NM_006846.4(SPINK5):c.1607+7G>T
|
rs541432320
|
0.00007
|
NM_006846.4(SPINK5):c.2239T>C (p.Leu747=)
|
rs759451448
|
0.00007
|
NM_006947.4(SRP72):c.*321A>G
|
rs886059499
|
0.00007
|
NM_006947.4(SRP72):c.*622G>A
|
rs775675334
|
0.00007
|
NM_015175.3(NBEAL2):c.*263C>T
|
rs886058611
|
0.00007
|
NM_015175.3(NBEAL2):c.1764G>A (p.Ala588=)
|
rs776191203
|
0.00007
|
NM_015175.3(NBEAL2):c.4846G>A (p.Glu1616Lys)
|
rs779806471
|
0.00007
|
NM_015175.3(NBEAL2):c.7248G>A (p.Leu2416=)
|
rs749025670
|
0.00007
|
NM_017875.4(SLC25A38):c.626-5T>C
|
rs767154505
|
0.00007
|
NM_019616.4(F7):c.*909C>T
|
rs886049999
|
0.00007
|
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)
|
rs201105899
|
0.00007
|
NM_022081.6(HPS4):c.*423G>A
|
rs552928725
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_024747.6(HPS6):c.634G>A (p.Val212Met)
|
rs375789510
|
0.00007
|
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp)
|
rs143828069
|
0.00007
|
NM_025215.6(PUS1):c.649G>A (p.Val217Ile)
|
rs200591614
|
0.00007
|
NM_032043.3(BRIP1):c.*477A>G
|
rs1030551071
|
0.00007
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
NM_032444.4(SLX4):c.192A>G (p.Lys64=)
|
rs756720856
|
0.00007
|
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)
|
rs199656607
|
0.00007
|
NM_080669.6(SLC46A1):c.*3279C>T
|
rs539239937
|
0.00007
|
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=)
|
rs782306668
|
0.00007
|
NM_080911.3(UNG):c.*445C>T
|
rs769388131
|
0.00007
|
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His)
|
rs369919247
|
0.00007
|
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln)
|
rs147907236
|
0.00007
|
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val)
|
rs368362777
|
0.00007
|
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val)
|
rs145265055
|
0.00007
|
NM_183235.3(RAB27A):c.*1485G>A
|
rs886051308
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_203447.4(DOCK8):c.4904A>G (p.Gln1635Arg)
|
rs200869192
|
0.00007
|
NC_000010.11:g.27100498T>A
|
rs886046951
|
0.00006
|
NM_000037.4(ANK1):c.1628C>T (p.Ala543Val)
|
rs369233964
|
0.00006
|
NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln)
|
rs771237247
|
0.00006
|
NM_000037.4(ANK1):c.4105-5T>G
|
rs768183148
|
0.00006
|
NM_000037.4(ANK1):c.4607G>A (p.Arg1536His)
|
rs767213092
|
0.00006
|
NM_000037.4(ANK1):c.909+9T>C
|
rs756182531
|
0.00006
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys)
|
rs201676342
|
0.00006
|
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val)
|
rs587779892
|
0.00006
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000064.4(C3):c.2907C>T (p.Asp969=)
|
rs144672500
|
0.00006
|
NM_000064.4(C3):c.4095C>G (p.Val1365=)
|
rs527830114
|
0.00006
|
NM_000064.4(C3):c.4257G>A (p.Lys1419=)
|
rs768065757
|
0.00006
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
NM_000081.4(LYST):c.3834G>A (p.Leu1278=)
|
rs148542548
|
0.00006
|
NM_000081.4(LYST):c.5635-4A>G
|
rs754201076
|
0.00006
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
|
rs140229368
|
0.00006
|
NM_000096.3(CP):c.-199C>G
|
rs772691705
|
0.00006
|
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn)
|
rs149217680
|
0.00006
|
NM_000128.3(F11):c.-183T>C
|
rs886059297
|
0.00006
|
NM_000128.4(F11):c.-57G>A
|
rs1043431996
|
0.00006
|
NM_000128.4(F11):c.1480+4C>T
|
rs370328133
|
0.00006
|
NM_000128.4(F11):c.1836C>T (p.Val612=)
|
rs775708833
|
0.00006
|
NM_000128.4(F11):c.219-11T>A
|
rs886059298
|
0.00006
|
NM_000128.4(F11):c.642C>T (p.Asn214=)
|
rs372572261
|
0.00006
|
NM_000129.4(F13A1):c.*945T>C
|
rs774737661
|
0.00006
|
NM_000129.4(F13A1):c.799-13C>T
|
rs188094485
|
0.00006
|
NM_000130.5(F5):c.*1170G>A
|
rs191866237
|
0.00006
|
NM_000130.5(F5):c.*149C>G
|
rs534748300
|
0.00006
|
NM_000130.5(F5):c.*1715T>G
|
rs763562497
|
0.00006
|
NM_000130.5(F5):c.*288T>C
|
rs116921763
|
0.00006
|
NM_000130.5(F5):c.*75G>A
|
rs1001647624
|
0.00006
|
NM_000130.5(F5):c.*762G>A
|
rs753366128
|
0.00006
|
NM_000130.5(F5):c.1106C>T (p.Ala369Val)
|
rs200934105
|
0.00006
|
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)
|
rs369276714
|
0.00006
|
NM_000130.5(F5):c.5534A>G (p.His1845Arg)
|
rs200865371
|
0.00006
|
NM_000135.4(FANCA):c.*447T>C
|
rs771942409
|
0.00006
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
NM_000135.4(FANCA):c.3349-3C>T
|
rs373861415
|
0.00006
|
NM_000135.4(FANCA):c.3766-14G>A
|
rs34476949
|
0.00006
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000136.3(FANCC):c.*1649A>G
|
rs560444013
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)
|
rs764420988
|
0.00006
|
NM_000204.5(CFI):c.148C>G (p.Pro50Ala)
|
rs144082872
|
0.00006
|
NM_000211.5(ITGB2):c.-10A>C
|
rs371741629
|
0.00006
|
NM_000211.5(ITGB2):c.-39G>A
|
rs886057121
|
0.00006
|
NM_000211.5(ITGB2):c.181C>T (p.Arg61Cys)
|
rs375038257
|
0.00006
|
NM_000211.5(ITGB2):c.2210G>A (p.Arg737His)
|
rs138714119
|
0.00006
|
NM_000211.5(ITGB2):c.681C>T (p.Ser227=)
|
rs369981986
|
0.00006
|
NM_000211.5(ITGB2):c.768G>A (p.Thr256=)
|
rs201148219
|
0.00006
|
NM_000211.5(ITGB2):c.849C>T (p.Asp283=)
|
rs35013643
|
0.00006
|
NM_000211.5(ITGB2):c.854G>A (p.Arg285His)
|
rs769752245
|
0.00006
|
NM_000212.3(ITGB3):c.*1817T>A
|
rs776553854
|
0.00006
|
NM_000212.3(ITGB3):c.*2030C>A
|
rs886053098
|
0.00006
|
NM_000212.3(ITGB3):c.*699C>T
|
rs886053093
|
0.00006
|
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)
|
rs369140365
|
0.00006
|
NM_000212.3(ITGB3):c.2085C>T (p.Tyr695=)
|
rs373450805
|
0.00006
|
NM_000312.4(PROC):c.*152T>C
|
rs1054891637
|
0.00006
|
NM_000313.3(PROS1):c.-187G>T
|
rs1195211433
|
0.00006
|
NM_000313.4(PROS1):c.1323+8T>G
|
rs778473220
|
0.00006
|
NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile)
|
rs202190731
|
0.00006
|
NM_000342.4(SLC4A1):c.*1198A>T
|
rs886052992
|
0.00006
|
NM_000342.4(SLC4A1):c.*1305G>A
|
rs566138996
|
0.00006
|
NM_000342.4(SLC4A1):c.*1393A>T
|
rs139308660
|
0.00006
|
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)
|
rs202243808
|
0.00006
|
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)
|
rs765911147
|
0.00006
|
NM_000365.6(TPI1):c.*253G>T
|
rs782730165
|
0.00006
|
NM_000373.4(UMPS):c.*37C>T
|
rs747349290
|
0.00006
|
NM_000373.4(UMPS):c.*4231A>G
|
rs886057895
|
0.00006
|
NM_000375.3(UROS):c.-232G>A
|
rs886046815
|
0.00006
|
NM_000419.5(ITGA2B):c.1157G>A (p.Arg386Gln)
|
rs767338191
|
0.00006
|
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)
|
rs201119421
|
0.00006
|
NM_000460.4(THPO):c.*480G>A
|
rs778078910
|
0.00006
|
NM_000504.4(F10):c.1226C>T (p.Thr409Ile)
|
rs775241064
|
0.00006
|
NM_000506.5(F2):c.1815T>C (p.His605=)
|
rs368442575
|
0.00006
|
NM_000509.5(FGG):c.-130G>T
|
rs749800940
|
0.00006
|
NM_000552.5(VWF):c.2968-12T>C
|
rs371677551
|
0.00006
|
NM_000552.5(VWF):c.3952G>A (p.Val1318Met)
|
rs372028373
|
0.00006
|
NM_000552.5(VWF):c.7800C>T (p.Cys2600=)
|
rs200209213
|
0.00006
|
NM_000602.5(SERPINE1):c.*684T>C
|
rs527814575
|
0.00006
|
NM_000617.3(SLC11A2):c.*1599C>T
|
rs886049559
|
0.00006
|
NM_000617.3(SLC11A2):c.*415G>A
|
rs765348165
|
0.00006
|
NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=)
|
rs761505350
|
0.00006
|
NM_000821.7(GGCX):c.*3841T>A
|
rs986672098
|
0.00006
|
NM_000821.7(GGCX):c.*4397G>A
|
rs564820085
|
0.00006
|
NM_000821.7(GGCX):c.990G>C (p.Leu330=)
|
rs374754358
|
0.00006
|
NM_000975.5(RPL11):c.158-7C>T
|
rs768654673
|
0.00006
|
NM_001001548.3(CD36):c.*1419+47A>G
|
rs759397538
|
0.00006
|
NM_001001548.3(CD36):c.1254+5G>T
|
rs371153088
|
0.00006
|
NM_001001548.3(CD36):c.282-14T>A
|
rs754938089
|
0.00006
|
NM_001001548.3(CD36):c.318C>T (p.Asp106=)
|
rs146796766
|
0.00006
|
NM_001001548.3(CD36):c.846C>T (p.Asp282=)
|
rs749415195
|
0.00006
|
NM_001011.4(RPS7):c.-27C>T
|
rs573443780
|
0.00006
|
NM_001018115.3(FANCD2):c.-33-13G>A
|
rs113338938
|
0.00006
|
NM_001018115.3(FANCD2):c.1546-8T>C
|
rs530202330
|
0.00006
|
NM_001018115.3(FANCD2):c.4186-13C>T
|
rs755767180
|
0.00006
|
NM_001018115.3(FANCD2):c.4281+257C>T
|
rs886057694
|
0.00006
|
NM_001022.3(RPS19):c.-74C>T
|
rs886054468
|
0.00006
|
NM_001040436.3(YARS2):c.*478G>A
|
rs925773588
|
0.00006
|
NM_001040436.3(YARS2):c.810C>T (p.Thr270=)
|
rs145906298
|
0.00006
|
NM_001063.4(TF):c.154G>A (p.Asp52Asn)
|
rs41298295
|
0.00006
|
NM_001081.4(CUBN):c.*298G>A
|
rs529415832
|
0.00006
|
NM_001081.4(CUBN):c.*416G>A
|
rs886046856
|
0.00006
|
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
|
rs370127775
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001081.4(CUBN):c.2610A>G (p.Glu870=)
|
rs143471343
|
0.00006
|
NM_001081.4(CUBN):c.348+10A>G
|
rs373954000
|
0.00006
|
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)
|
rs200593316
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
0.00006
|
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
|
rs142466038
|
0.00006
|
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)
|
rs202189846
|
0.00006
|
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
0.00006
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)
|
rs933284199
|
0.00006
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
0.00006
|
NM_001114134.2(EPB42):c.10+97G>A
|
rs372291145
|
0.00006
|
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln)
|
rs374503872
|
0.00006
|
NM_001114134.2(EPB42):c.137G>A (p.Arg46His)
|
rs202154600
|
0.00006
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001250.6(CD40):c.*310C>G
|
rs886056720
|
0.00006
|
NM_001250.6(CD40):c.498-7T>C
|
rs745435992
|
0.00006
|
NM_001374504.1(TMPRSS6):c.127C>T (p.Arg43Cys)
|
rs750274321
|
0.00006
|
NM_001375808.2(LPIN2):c.*1514G>C
|
rs544570644
|
0.00006
|
NM_001375808.2(LPIN2):c.*2412C>T
|
rs553336397
|
0.00006
|
NM_001375808.2(LPIN2):c.*725G>A
|
rs886053755
|
0.00006
|
NM_001375808.2(LPIN2):c.*84A>G
|
rs886053764
|
0.00006
|
NM_001375808.2(LPIN2):c.*897T>G
|
rs886053752
|
0.00006
|
NM_001375808.2(LPIN2):c.-10+1170G>A
|
rs751000184
|
0.00006
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
NM_001386140.1(MTTP):c.*1118C>T
|
rs144013236
|
0.00006
|
NM_001386140.1(MTTP):c.393+11G>A
|
rs367982075
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_001430.5(EPAS1):c.-102C>G
|
rs886056082
|
0.00006
|
NM_001754.5(RUNX1):c.*2366G>A
|
rs886057039
|
0.00006
|
NM_001814.6(CTSC):c.948G>C (p.Leu316=)
|
rs145373075
|
0.00006
|
NM_001994.3(F13B):c.1670A>G (p.His557Arg)
|
rs759631235
|
0.00006
|
NM_001994.3(F13B):c.1815C>T (p.His605=)
|
rs375961962
|
0.00006
|
NM_002203.4(ITGA2):c.*3237A>C
|
rs886060688
|
0.00006
|
NM_002473.6(MYH9):c.*73C>T
|
rs1045383138
|
0.00006
|
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)
|
rs199751339
|
0.00006
|
NM_003126.4(SPTA1):c.*294A>G
|
rs886045378
|
0.00006
|
NM_003126.4(SPTA1):c.*39G>A
|
rs202171095
|
0.00006
|
NM_003126.4(SPTA1):c.1350+13A>G
|
rs746352918
|
0.00006
|
NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys)
|
rs767641820
|
0.00006
|
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)
|
rs118088187
|
0.00006
|
NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val)
|
rs375610306
|
0.00006
|
NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=)
|
rs747751954
|
0.00006
|
NM_003126.4(SPTA1):c.444G>A (p.Leu148=)
|
rs557685746
|
0.00006
|
NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr)
|
rs778626016
|
0.00006
|
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His)
|
rs746762359
|
0.00006
|
NM_003126.4(SPTA1):c.5311-4T>A
|
rs544472935
|
0.00006
|
NM_003126.4(SPTA1):c.54G>A (p.Leu18=)
|
rs199690643
|
0.00006
|
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu)
|
rs747391167
|
0.00006
|
NM_003664.5(AP3B1):c.*507G>A
|
rs865863660
|
0.00006
|
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
|
rs201238945
|
0.00006
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)
|
rs574511407
|
0.00006
|
NM_005141.5(FGB):c.*1444C>A
|
rs886059145
|
0.00006
|
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr)
|
rs760404861
|
0.00006
|
NM_005373.3(MPL):c.*882C>T
|
rs777894453
|
0.00006
|
NM_005476.7(GNE):c.*2448A>G
|
rs757287887
|
0.00006
|
NM_005476.7(GNE):c.*573G>A
|
rs1032415165
|
0.00006
|
NM_005570.4(LMAN1):c.*1988C>T
|
rs886054033
|
0.00006
|
NM_006206.6(PDGFRA):c.*1971C>T
|
rs886059459
|
0.00006
|
NM_006206.6(PDGFRA):c.*2110C>T
|
rs777478254
|
0.00006
|
NM_006206.6(PDGFRA):c.*936A>C
|
rs886059452
|
0.00006
|
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=)
|
rs56384252
|
0.00006
|
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)
|
rs142492533
|
0.00006
|
NM_006363.5(SEC23B):c.-394A>C
|
rs561908920
|
0.00006
|
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg)
|
rs765752936
|
0.00006
|
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=)
|
rs201674667
|
0.00006
|
NM_006846.4(SPINK5):c.1820+11G>A
|
rs796478719
|
0.00006
|
NM_006947.4(SRP72):c.*1241C>T
|
rs1282273094
|
0.00006
|
NM_006996.3(SLC19A2):c.-2G>A
|
rs886045531
|
0.00006
|
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser)
|
rs886045530
|
0.00006
|
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)
|
rs201489069
|
0.00006
|
NM_012092.4(ICOS):c.*939A>G
|
rs563893351
|
0.00006
|
NM_014915.3(ANKRD26):c.4725-15C>T
|
rs373529426
|
0.00006
|
NM_015175.3(NBEAL2):c.-178G>A
|
rs892777590
|
0.00006
|
NM_015175.3(NBEAL2):c.1102G>A (p.Asp368Asn)
|
rs528681375
|
0.00006
|
NM_015175.3(NBEAL2):c.1134C>T (p.Asp378=)
|
rs367672629
|
0.00006
|
NM_015175.3(NBEAL2):c.7453C>T (p.Arg2485Trp)
|
rs748364740
|
0.00006
|
NM_015702.3(MMADHC):c.*241A>G
|
rs528409808
|
0.00006
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_018062.4(FANCL):c.273+7A>C
|
rs745366278
|
0.00006
|
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser)
|
rs144057264
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser)
|
rs756683159
|
0.00006
|
NM_019616.4(F7):c.822G>A (p.Pro274=)
|
rs566083695
|
0.00006
|
NM_020661.4(AICDA):c.*1010C>T
|
rs1018192148
|
0.00006
|
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)
|
rs370873387
|
0.00006
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
NM_022051.2(EGLN1):c.-1590C>T
|
rs368110035
|
0.00006
|
NM_022051.2(EGLN1):c.-461C>A
|
rs886046117
|
0.00006
|
NM_022051.2(EGLN1):c.-969G>A
|
rs766034321
|
0.00006
|
NM_022051.3(EGLN1):c.*1911C>T
|
rs886046097
|
0.00006
|
NM_022051.3(EGLN1):c.*965A>G
|
rs773908732
|
0.00006
|
NM_022081.6(HPS4):c.1014C>T (p.Pro338=)
|
rs188300485
|
0.00006
|
NM_022725.4(FANCF):c.*1535T>A
|
rs886048151
|
0.00006
|
NM_024747.6(HPS6):c.1152T>C (p.Phe384=)
|
rs200681093
|
0.00006
|
NM_024747.6(HPS6):c.277G>T (p.Val93Leu)
|
rs185571437
|
0.00006
|
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln)
|
rs199863621
|
0.00006
|
NM_025215.6(PUS1):c.972C>T (p.Asp324=)
|
rs200065515
|
0.00006
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)
|
rs750402363
|
0.00006
|
NM_032444.4(SLX4):c.-19G>A
|
rs113845637
|
0.00006
|
NM_032444.4(SLX4):c.-395C>T
|
rs886051984
|
0.00006
|
NM_032444.4(SLX4):c.-41A>G
|
rs772911988
|
0.00006
|
NM_032444.4(SLX4):c.-46G>A
|
rs113023461
|
0.00006
|
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)
|
rs776189589
|
0.00006
|
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile)
|
rs781323142
|
0.00006
|
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
|
rs769271628
|
0.00006
|
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)
|
rs139254595
|
0.00006
|
NM_032444.4(SLX4):c.996G>T (p.Gln332His)
|
rs377201471
|
0.00006
|
NM_032638.5(GATA2):c.*1146A>G
|
rs776209943
|
0.00006
|
NM_032638.5(GATA2):c.*174G>A
|
rs373617135
|
0.00006
|
NM_080669.6(SLC46A1):c.*1062G>A
|
rs535633260
|
0.00006
|
NM_080669.6(SLC46A1):c.*11C>T
|
rs782615925
|
0.00006
|
NM_080669.6(SLC46A1):c.*3135A>G
|
rs762983414
|
0.00006
|
NM_080669.6(SLC46A1):c.*476G>A
|
rs893997849
|
0.00006
|
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn)
|
rs201540617
|
0.00006
|
NM_080911.3(UNG):c.*573G>C
|
rs1028482157
|
0.00006
|
NM_080911.3(UNG):c.*611C>T
|
rs886048911
|
0.00006
|
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala)
|
rs779584053
|
0.00006
|
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu)
|
rs368192130
|
0.00006
|
NM_138477.4(CDAN1):c.2008-15C>T
|
rs774076440
|
0.00006
|
NM_138477.4(CDAN1):c.2263-8C>T
|
rs757508400
|
0.00006
|
NM_139027.6(ADAMTS13):c.*41G>A
|
rs369498637
|
0.00006
|
NM_139027.6(ADAMTS13):c.1435+11C>T
|
rs377454829
|
0.00006
|
NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr)
|
rs782396358
|
0.00006
|
NM_139027.6(ADAMTS13):c.3044+10C>T
|
rs375335095
|
0.00006
|
NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val)
|
rs587697598
|
0.00006
|
NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser)
|
rs886063632
|
0.00006
|
NM_139279.6(MCFD2):c.*2121G>A
|
rs187335799
|
0.00006
|
NM_139279.6(MCFD2):c.*2983T>C
|
rs1316076292
|
0.00006
|
NM_152564.5(VPS13B):c.*304C>T
|
rs913240465
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn)
|
rs1419202718
|
0.00006
|
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala)
|
rs147448147
|
0.00006
|
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly)
|
rs140061281
|
0.00006
|
NM_172351.3(CD46):c.*968T>A
|
rs768037862
|
0.00006
|
NM_172351.3(CD46):c.574G>C (p.Asp192His)
|
rs368371683
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe)
|
rs142090060
|
0.00006
|
NM_181507.2(HPS5):c.285-10A>G
|
rs200449378
|
0.00006
|
NM_183235.3(RAB27A):c.*1156T>G
|
rs747438491
|
0.00006
|
NM_183235.3(RAB27A):c.*1170T>G
|
rs574506558
|
0.00006
|
NM_183235.3(RAB27A):c.*1669A>G
|
rs981927108
|
0.00006
|
NM_183235.3(RAB27A):c.*814G>A
|
rs146798701
|
0.00006
|
NM_183235.3(RAB27A):c.213G>T (p.Gln71His)
|
rs776920896
|
0.00006
|
NM_198253.3(TERT):c.2654+10G>A
|
rs375473823
|
0.00006
|
NM_203447.4(DOCK8):c.1402G>A (p.Val468Ile)
|
rs750286236
|
0.00006
|
NM_203447.4(DOCK8):c.1797+13A>C
|
rs776147775
|
0.00006
|
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys)
|
rs267602235
|
0.00006
|
NM_203447.4(DOCK8):c.3713G>A (p.Arg1238His)
|
rs767874435
|
0.00006
|
NM_000037.4(ANK1):c.*1412G>A
|
rs987022893
|
0.00005
|
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)
|
rs756075877
|
0.00005
|
NM_000037.4(ANK1):c.1521G>A (p.Leu507=)
|
rs374623408
|
0.00005
|
NM_000037.4(ANK1):c.3941A>C (p.His1314Pro)
|
rs753586006
|
0.00005
|
NM_000037.4(ANK1):c.5061C>G (p.Pro1687=)
|
rs751121091
|
0.00005
|
NM_000059.4(BRCA2):c.*134C>T
|
rs1228334381
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
NM_000064.4(C3):c.1470C>T (p.Tyr490=)
|
rs762635358
|
0.00005
|
NM_000064.4(C3):c.1819A>G (p.Lys607Glu)
|
rs140637006
|
0.00005
|
NM_000096.4(CP):c.*912C>G
|
rs149920453
|
0.00005
|
NM_000096.4(CP):c.1131C>T (p.Ala377=)
|
rs150733154
|
0.00005
|
NM_000128.4(F11):c.*576G>A
|
rs886059301
|
0.00005
|
NM_000129.4(F13A1):c.2029A>G (p.Met677Val)
|
rs371964182
|
0.00005
|
NM_000130.5(F5):c.*1404G>A
|
rs950549168
|
0.00005
|
NM_000130.5(F5):c.*1433G>A
|
rs1324064139
|
0.00005
|
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
|
rs746260106
|
0.00005
|
NM_000130.5(F5):c.1300G>A (p.Val434Met)
|
rs574610215
|
0.00005
|
NM_000130.5(F5):c.165T>C (p.Asn55=)
|
rs781434840
|
0.00005
|
NM_000130.5(F5):c.3801T>C (p.Leu1267=)
|
rs559683767
|
0.00005
|
NM_000130.5(F5):c.6589A>G (p.Ile2197Val)
|
rs372005449
|
0.00005
|
NM_000132.4(F8):c.2299C>T (p.His767Tyr)
|
rs782115513
|
0.00005
|
NM_000133.4(F9):c.*621G>A
|
rs1278613777
|
0.00005
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
NM_000136.3(FANCC):c.*884C>T
|
rs1038927110
|
0.00005
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000174.5(GP9):c.-16G>T
|
rs886057963
|
0.00005
|
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)
|
rs11189601
|
0.00005
|
NM_000211.5(ITGB2):c.*148C>T
|
rs753098490
|
0.00005
|
NM_000211.5(ITGB2):c.*170C>T
|
rs952815585
|
0.00005
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
NM_000211.5(ITGB2):c.897+14C>A
|
rs374471192
|
0.00005
|
NM_000212.3(ITGB3):c.*1527A>G
|
rs561828022
|
0.00005
|
NM_000222.3(KIT):c.*701A>G
|
rs747912015
|
0.00005
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
|
rs374805791
|
0.00005
|
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
|
rs774192277
|
0.00005
|
NM_000313.4(PROS1):c.*550G>A
|
rs925792694
|
0.00005
|
NM_000313.4(PROS1):c.*86T>C
|
rs886058925
|
0.00005
|
NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn)
|
rs755684845
|
0.00005
|
NM_000342.4(SLC4A1):c.*431T>C
|
rs951207868
|
0.00005
|
NM_000342.4(SLC4A1):c.*977G>A
|
rs886052993
|
0.00005
|
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)
|
rs754017629
|
0.00005
|
NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)
|
rs141605301
|
0.00005
|
NM_000355.4(TCN2):c.-34A>G
|
rs199511962
|
0.00005
|
NM_000373.4(UMPS):c.*1342C>T
|
rs183081203
|
0.00005
|
NM_000373.4(UMPS):c.*1520del
|
rs758378045
|
0.00005
|
NM_000373.4(UMPS):c.*2231G>A
|
rs531076251
|
0.00005
|
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr)
|
rs201516429
|
0.00005
|
NM_000384.3(APOB):c.5913G>A (p.Leu1971=)
|
rs374251542
|
0.00005
|
NM_000419.5(ITGA2B):c.*120T>C
|
rs41385144
|
0.00005
|
NM_000488.3(SERPINC1):c.-88G>A
|
rs376206880
|
0.00005
|
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)
|
rs372820797
|
0.00005
|
NM_000504.4(F10):c.878C>T (p.Thr293Met)
|
rs752412971
|
0.00005
|
NM_000505.4(F12):c.1212C>G (p.Pro404=)
|
rs756802257
|
0.00005
|
NM_000506.5(F2):c.978G>A (p.Pro326=)
|
rs142949009
|
0.00005
|
NM_000552.5(VWF):c.55+15G>A
|
rs201377447
|
0.00005
|
NM_000552.5(VWF):c.6433C>T (p.Pro2145Ser)
|
rs61750618
|
0.00005
|
NM_000602.5(SERPINE1):c.-109G>A
|
rs1051051547
|
0.00005
|
NM_000617.3(SLC11A2):c.290G>C (p.Gly97Ala)
|
rs138686455
|
0.00005
|
NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser)
|
rs769742722
|
0.00005
|
NM_000821.7(GGCX):c.*218G>A
|
rs772911409
|
0.00005
|
NM_000821.7(GGCX):c.*2892A>C
|
rs146540264
|
0.00005
|
NM_000821.7(GGCX):c.1439+15C>T
|
rs758719852
|
0.00005
|
NM_000821.7(GGCX):c.1492C>T (p.Arg498Cys)
|
rs372161185
|
0.00005
|
NM_000969.5(RPL5):c.228C>T (p.Cys76=)
|
rs370284124
|
0.00005
|
NM_001001548.3(CD36):c.1409C>T (p.Thr470Ile)
|
rs200771788
|
0.00005
|
NM_001018115.3(FANCD2):c.696-11A>G
|
rs376488313
|
0.00005
|
NM_001040436.3(YARS2):c.477C>T (p.Phe159=)
|
rs774325742
|
0.00005
|
NM_001081.4(CUBN):c.*195T>C
|
rs886046859
|
0.00005
|
NM_001081.4(CUBN):c.*470T>C
|
rs886046855
|
0.00005
|
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val)
|
rs767333853
|
0.00005
|
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
|
rs144627803
|
0.00005
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
0.00005
|
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe)
|
rs201294291
|
0.00005
|
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg)
|
rs532968940
|
0.00005
|
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)
|
rs201958183
|
0.00005
|
NM_001113378.2(FANCI):c.1113-10G>C
|
rs756650711
|
0.00005
|
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
|
rs544848412
|
0.00005
|
NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln)
|
rs150037117
|
0.00005
|
NM_001174125.2(SLC11A2):c.49+1746C>T
|
rs886763852
|
0.00005
|
NM_001250.6(CD40):c.*676C>T
|
rs933970936
|
0.00005
|
NM_001250.6(CD40):c.622A>G (p.Ile208Val)
|
rs199581355
|
0.00005
|
NM_001374504.1(TMPRSS6):c.589+9T>C
|
rs377665035
|
0.00005
|
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr)
|
rs540544894
|
0.00005
|
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr)
|
rs181542503
|
0.00005
|
NM_001430.5(EPAS1):c.*117T>A
|
rs886056089
|
0.00005
|
NM_001430.5(EPAS1):c.*1790G>A
|
rs532892029
|
0.00005
|
NM_001754.5(RUNX1):c.*1078A>G
|
rs983432717
|
0.00005
|
NM_001754.5(RUNX1):c.*3944G>A
|
rs751695710
|
0.00005
|
NM_001770.6(CD19):c.*151G>A
|
rs879933623
|
0.00005
|
NM_001994.3(F13B):c.796G>C (p.Val266Leu)
|
rs533222920
|
0.00005
|
NM_002203.4(ITGA2):c.*2674G>C
|
rs886060683
|
0.00005
|
NM_002473.6(MYH9):c.*1026C>G
|
rs779365782
|
0.00005
|
NM_002473.6(MYH9):c.*539G>A
|
rs533769148
|
0.00005
|
NM_002473.6(MYH9):c.*74G>A
|
rs886057477
|
0.00005
|
NM_002473.6(MYH9):c.2691C>T (p.Ala897=)
|
rs148883810
|
0.00005
|
NM_002473.6(MYH9):c.3638C>G (p.Ala1213Gly)
|
rs886057481
|
0.00005
|
NM_002658.6(PLAU):c.*917G>A
|
rs879420957
|
0.00005
|
NM_003126.4(SPTA1):c.5004A>G (p.Thr1668=)
|
rs768234604
|
0.00005
|
NM_003126.4(SPTA1):c.812+7A>T
|
rs186595817
|
0.00005
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
NM_005141.5(FGB):c.*304G>A
|
rs901759260
|
0.00005
|
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)
|
rs201998783
|
0.00005
|
NM_005476.7(GNE):c.*872C>T
|
rs1008750814
|
0.00005
|
NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu)
|
rs770116653
|
0.00005
|
NM_005570.4(LMAN1):c.539+3A>G
|
rs201868497
|
0.00005
|
NM_006206.6(PDGFRA):c.*2079A>G
|
rs187487079
|
0.00005
|
NM_006846.4(SPINK5):c.*90G>A
|
rs978677310
|
0.00005
|
NM_012092.4(ICOS):c.*77C>T
|
rs769887283
|
0.00005
|
NM_015175.3(NBEAL2):c.4122C>T (p.Gly1374=)
|
rs759172927
|
0.00005
|
NM_015175.3(NBEAL2):c.5082C>T (p.Ser1694=)
|
rs753011888
|
0.00005
|
NM_015175.3(NBEAL2):c.6173T>C (p.Met2058Thr)
|
rs775803831
|
0.00005
|
NM_015175.3(NBEAL2):c.6723C>T (p.Asn2241=)
|
rs563986757
|
0.00005
|
NM_015175.3(NBEAL2):c.7922G>A (p.Arg2641Gln)
|
rs765996332
|
0.00005
|
NM_019616.4(F7):c.*582C>T
|
rs886049993
|
0.00005
|
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)
|
rs759124595
|
0.00005
|
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn)
|
rs201043011
|
0.00005
|
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)
|
rs373421312
|
0.00005
|
NM_022725.4(FANCF):c.*499T>C
|
rs566136504
|
0.00005
|
NM_024747.6(HPS6):c.2231G>T (p.Gly744Val)
|
rs770148492
|
0.00005
|
NM_025215.6(PUS1):c.1068G>A (p.Leu356=)
|
rs201753270
|
0.00005
|
NM_025215.6(PUS1):c.984G>A (p.Ala328=)
|
rs143660941
|
0.00005
|
NM_032043.3(BRIP1):c.*2692A>G
|
rs886053204
|
0.00005
|
NM_032043.3(BRIP1):c.*659G>A
|
rs769375960
|
0.00005
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
NM_032383.5(HPS3):c.-50C>T
|
rs750659280
|
0.00005
|
NM_032383.5(HPS3):c.677A>G (p.His226Arg)
|
rs188661079
|
0.00005
|
NM_032444.4(SLX4):c.*98A>G
|
rs551538592
|
0.00005
|
NM_032444.4(SLX4):c.-602-6C>G
|
rs886051986
|
0.00005
|
NM_032444.4(SLX4):c.1941C>T (p.Pro647=)
|
rs540288743
|
0.00005
|
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg)
|
rs754996241
|
0.00005
|
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys)
|
rs560866356
|
0.00005
|
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro)
|
rs199838670
|
0.00005
|
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)
|
rs371875095
|
0.00005
|
NM_138387.4(G6PC3):c.-231A>G
|
rs886052983
|
0.00005
|
NM_138477.4(CDAN1):c.1839G>A (p.Gly613=)
|
rs148994527
|
0.00005
|
NM_138477.4(CDAN1):c.2406C>T (p.Ile802=)
|
rs145050561
|
0.00005
|
NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn)
|
rs782518928
|
0.00005
|
NM_139027.6(ADAMTS13):c.540-3G>A
|
rs886063631
|
0.00005
|
NM_139276.3(STAT3):c.*607C>T
|
rs969407289
|
0.00005
|
NM_139279.6(MCFD2):c.*1158C>A
|
rs886056113
|
0.00005
|
NM_139279.6(MCFD2):c.*2128C>T
|
rs1030805726
|
0.00005
|
NM_139279.6(MCFD2):c.*2556C>T
|
rs1009835953
|
0.00005
|
NM_139279.6(MCFD2):c.*445A>G
|
rs1160902939
|
0.00005
|
NM_152564.5(VPS13B):c.*705T>C
|
rs886062554
|
0.00005
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp)
|
rs117357319
|
0.00005
|
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe)
|
rs763052877
|
0.00005
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
NM_172351.3(CD46):c.*1665G>A
|
rs886045845
|
0.00005
|
NM_181507.2(HPS5):c.*157G>A
|
rs916119305
|
0.00005
|
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys)
|
rs143073506
|
0.00005
|
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu)
|
rs373228021
|
0.00005
|
NM_203447.4(DOCK8):c.2087A>G (p.Asn696Ser)
|
rs149521894
|
0.00005
|
NM_203447.4(DOCK8):c.5672G>A (p.Arg1891Gln)
|
rs368477654
|
0.00005
|
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)
|
rs372675935
|
0.00004
|
NM_000032.5(ALAS2):c.416-11T>C
|
rs977637650
|
0.00004
|
NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser)
|
rs201980785
|
0.00004
|
NM_000037.4(ANK1):c.1638C>T (p.Tyr546=)
|
rs771419825
|
0.00004
|
NM_000037.4(ANK1):c.2601T>C (p.Pro867=)
|
rs540851221
|
0.00004
|
NM_000037.4(ANK1):c.2760C>T (p.Asp920=)
|
rs201312056
|
0.00004
|
NM_000037.4(ANK1):c.2817G>A (p.Pro939=)
|
rs751319722
|
0.00004
|
NM_000037.4(ANK1):c.3002G>A (p.Arg1001His)
|
rs144724635
|
0.00004
|
NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val)
|
rs369796910
|
0.00004
|
NM_000057.4(BLM):c.451A>G (p.Ile151Val)
|
rs780472557
|
0.00004
|
NM_000057.4(BLM):c.847A>G (p.Thr283Ala)
|
rs149598003
|
0.00004
|
NM_000059.4(BRCA2):c.*623C>T
|
rs145550800
|
0.00004
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000064.4(C3):c.3024G>A (p.Ser1008=)
|
rs779366181
|
0.00004
|
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro)
|
rs750654763
|
0.00004
|
NM_000064.4(C3):c.4353C>G (p.Val1451=)
|
rs750821412
|
0.00004
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
NM_000081.4(LYST):c.110C>T (p.Thr37Met)
|
rs375106444
|
0.00004
|
NM_000081.4(LYST):c.11354G>A (p.Arg3785His)
|
rs370173269
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000096.4(CP):c.2662-14T>C
|
rs189155564
|
0.00004
|
NM_000121.4(EPOR):c.-25G>A
|
rs1368665202
|
0.00004
|
NM_000128.4(F11):c.345T>C (p.Tyr115=)
|
rs766137229
|
0.00004
|
NM_000128.4(F11):c.56-6T>C
|
rs374122923
|
0.00004
|
NM_000129.4(F13A1):c.*1030G>T
|
rs548323382
|
0.00004
|
NM_000129.4(F13A1):c.*796G>A
|
rs56039031
|
0.00004
|
NM_000130.5(F5):c.*1857G>A
|
rs145683103
|
0.00004
|
NM_000130.5(F5):c.1624A>G (p.Ile542Val)
|
rs776949074
|
0.00004
|
NM_000130.5(F5):c.586+11C>A
|
rs199638362
|
0.00004
|
NM_000130.5(F5):c.6241C>G (p.Gln2081Glu)
|
rs201142225
|
0.00004
|
NM_000132.4(F8):c.*460G>A
|
rs782195878
|
0.00004
|
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn)
|
rs1279491966
|
0.00004
|
NM_000133.4(F9):c.*1122C>A
|
rs907681842
|
0.00004
|
NM_000133.4(F9):c.582T>G (p.Thr194=)
|
rs754155651
|
0.00004
|
NM_000135.4(FANCA):c.*166G>A
|
rs886052479
|
0.00004
|
NM_000135.4(FANCA):c.*42A>T
|
rs529748804
|
0.00004
|
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)
|
rs201323171
|
0.00004
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
NM_000136.3(FANCC):c.*1197A>G
|
rs1026341216
|
0.00004
|
NM_000136.3(FANCC):c.*1675A>G
|
rs183099416
|
0.00004
|
NM_000136.3(FANCC):c.*1901C>T
|
rs756111303
|
0.00004
|
NM_000136.3(FANCC):c.*2308G>A
|
rs1042363957
|
0.00004
|
NM_000136.3(FANCC):c.-246A>G
|
rs1000528763
|
0.00004
|
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)
|
rs730881725
|
0.00004
|
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)
|
rs201379302
|
0.00004
|
NM_000174.5(GP9):c.18C>T (p.Ala6=)
|
rs200376043
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)
|
rs777300338
|
0.00004
|
NM_000195.5(HPS1):c.*589G>A
|
rs540367850
|
0.00004
|
NM_000195.5(HPS1):c.*691G>A
|
rs1012331153
|
0.00004
|
NM_000195.5(HPS1):c.204C>T (p.Thr68=)
|
rs149759513
|
0.00004
|
NM_000204.5(CFI):c.57+9T>C
|
rs189973137
|
0.00004
|
NM_000204.5(CFI):c.950G>A (p.Arg317Gln)
|
rs751111134
|
0.00004
|
NM_000211.4(ITGB2):c.-104C>T
|
rs754249152
|
0.00004
|
NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr)
|
rs148775158
|
0.00004
|
NM_000212.3(ITGB3):c.*126G>C
|
rs886053089
|
0.00004
|
NM_000212.3(ITGB3):c.*12C>T
|
rs763559573
|
0.00004
|
NM_000212.3(ITGB3):c.*1331A>G
|
rs142312068
|
0.00004
|
NM_000212.3(ITGB3):c.*89G>A
|
rs1252473304
|
0.00004
|
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=)
|
rs566831897
|
0.00004
|
NM_000222.3(KIT):c.*1808A>G
|
rs762662037
|
0.00004
|
NM_000253.4(MTTP):c.-153C>G
|
rs886058954
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
NM_000298.6(PKLR):c.*342C>T
|
rs879040355
|
0.00004
|
NM_000298.6(PKLR):c.*346_*348del
|
rs556763356
|
0.00004
|
NM_000312.4(PROC):c.1065C>T (p.Asn355=)
|
rs548020208
|
0.00004
|
NM_000312.4(PROC):c.1272G>A (p.Glu424=)
|
rs770534863
|
0.00004
|
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile)
|
rs371885410
|
0.00004
|
NM_000342.4(SLC4A1):c.*1596A>C
|
rs886052990
|
0.00004
|
NM_000342.4(SLC4A1):c.*54A>G
|
rs758901858
|
0.00004
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00004
|
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)
|
rs766674440
|
0.00004
|
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)
|
rs764833865
|
0.00004
|
NM_000355.3(TCN2):c.-191G>A
|
rs886057394
|
0.00004
|
NM_000355.3(TCN2):c.-240G>A
|
rs16988823
|
0.00004
|
NM_000361.3(THBD):c.675C>T (p.Thr225=)
|
rs775568682
|
0.00004
|
NM_000365.6(TPI1):c.261C>T (p.Cys87=)
|
rs370863694
|
0.00004
|
NM_000373.4(UMPS):c.*2172A>G
|
rs886057877
|
0.00004
|
NM_000373.4(UMPS):c.*3326C>T
|
rs538340122
|
0.00004
|
NM_000373.4(UMPS):c.*3598C>G
|
rs886057892
|
0.00004
|
NM_000373.4(UMPS):c.*4263T>C
|
rs558675693
|
0.00004
|
NM_000373.4(UMPS):c.1052T>C (p.Val351Ala)
|
rs763246334
|
0.00004
|
NM_000373.4(UMPS):c.811G>C (p.Asp271His)
|
rs779077289
|
0.00004
|
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=)
|
rs367831764
|
0.00004
|
NM_000419.5(ITGA2B):c.1820C>T (p.Thr607Met)
|
rs539187844
|
0.00004
|
NM_000419.5(ITGA2B):c.1958C>T (p.Pro653Leu)
|
rs375936260
|
0.00004
|
NM_000419.5(ITGA2B):c.858C>T (p.Val286=)
|
rs376672078
|
0.00004
|
NM_000433.4(NCF2):c.636C>T (p.Asp212=)
|
rs774027102
|
0.00004
|
NM_000460.4(THPO):c.-215T>A
|
rs886058219
|
0.00004
|
NM_000460.4(THPO):c.963C>T (p.His321=)
|
rs377138170
|
0.00004
|
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)
|
rs565091601
|
0.00004
|
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln)
|
rs201541724
|
0.00004
|
NM_000504.4(F10):c.1415C>T (p.Pro472Leu)
|
rs1315933127
|
0.00004
|
NM_000505.4(F12):c.129C>T (p.Thr43=)
|
rs201546796
|
0.00004
|
NM_000506.5(F2):c.285G>A (p.Thr95=)
|
rs147892497
|
0.00004
|
NM_000506.5(F2):c.814G>A (p.Val272Met)
|
rs199558597
|
0.00004
|
NM_000506.5(F2):c.992C>T (p.Ser331Leu)
|
rs200812621
|
0.00004
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
NM_000519.4(HBD):c.60C>T (p.Asn20=)
|
rs777991732
|
0.00004
|
NM_000519.4(HBD):c.83C>A (p.Ala28Asp)
|
rs751533248
|
0.00004
|
NM_000552.5(VWF):c.3379+12C>T
|
rs374393996
|
0.00004
|
NM_000552.5(VWF):c.4103T>C (p.Ile1368Thr)
|
rs199675425
|
0.00004
|
NM_000552.5(VWF):c.5785A>T (p.Asn1929Tyr)
|
rs149799233
|
0.00004
|
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu)
|
rs777556669
|
0.00004
|
NM_000552.5(VWF):c.6798+13G>A
|
rs201509264
|
0.00004
|
NM_000602.5(SERPINE1):c.*1296G>A
|
rs903749815
|
0.00004
|
NM_000602.5(SERPINE1):c.*294T>G
|
rs534542817
|
0.00004
|
NM_000602.5(SERPINE1):c.801G>A (p.Glu267=)
|
rs61749911
|
0.00004
|
NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr)
|
rs550969378
|
0.00004
|
NM_000617.3(SLC11A2):c.523C>T (p.Leu175=)
|
rs373590039
|
0.00004
|
NM_000821.7(GGCX):c.1299G>C (p.Gln433His)
|
rs184476736
|
0.00004
|
NM_000821.7(GGCX):c.614G>A (p.Gly205Asp)
|
rs749978184
|
0.00004
|
NM_001001548.3(CD36):c.-150T>A
|
rs532897983
|
0.00004
|
NM_001001548.3(CD36):c.1254+1G>A
|
rs148051111
|
0.00004
|
NM_001001548.3(CD36):c.625G>C (p.Asp209His)
|
rs150674228
|
0.00004
|
NM_001001548.3(CD36):c.728G>A (p.Cys243Tyr)
|
rs35793888
|
0.00004
|
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)
|
rs765378218
|
0.00004
|
NM_001018115.3(FANCD2):c.4186-5T>C
|
rs763801603
|
0.00004
|
NM_001018115.3(FANCD2):c.4281+534G>A
|
rs886057696
|
0.00004
|
NM_001040436.3(YARS2):c.*595G>A
|
rs961010458
|
0.00004
|
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His)
|
rs762786998
|
0.00004
|
NM_001063.4(TF):c.334A>G (p.Thr112Ala)
|
rs199624323
|
0.00004
|
NM_001063.4(TF):c.686T>C (p.Ile229Thr)
|
rs764361166
|
0.00004
|
NM_001063.4(TF):c.790C>G (p.Gln264Glu)
|
rs766883577
|
0.00004
|
NM_001081.3(CUBN):c.-50G>A
|
rs370711661
|
0.00004
|
NM_001081.4(CUBN):c.*597A>C
|
rs569828144
|
0.00004
|
NM_001081.4(CUBN):c.10363-3A>G
|
rs765943248
|
0.00004
|
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe)
|
rs148313915
|
0.00004
|
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)
|
rs137892259
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
|
rs150277370
|
0.00004
|
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
|
rs1290241240
|
0.00004
|
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
|
rs946315516
|
0.00004
|
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=)
|
rs373804380
|
0.00004
|
NM_001081.4(CUBN):c.7001-4G>A
|
rs886046871
|
0.00004
|
NM_001081.4(CUBN):c.8599-8C>T
|
rs199774490
|
0.00004
|
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
|
rs142519035
|
0.00004
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=)
|
rs576867280
|
0.00004
|
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
|
rs749089689
|
0.00004
|
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)
|
rs199499934
|
0.00004
|
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=)
|
rs141513734
|
0.00004
|
NM_001113378.2(FANCI):c.-56T>C
|
rs374177639
|
0.00004
|
NM_001113378.2(FANCI):c.1512+3A>G
|
rs760846523
|
0.00004
|
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)
|
rs752114490
|
0.00004
|
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
|
rs145665176
|
0.00004
|
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)
|
rs368915464
|
0.00004
|
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
NM_001113378.2(FANCI):c.3721-15G>A
|
rs552581027
|
0.00004
|
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr)
|
rs776134519
|
0.00004
|
NM_001114134.2(EPB42):c.1265G>T (p.Gly422Val)
|
rs538781293
|
0.00004
|
NM_001114134.2(EPB42):c.210C>T (p.Ser70=)
|
rs180830933
|
0.00004
|
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln)
|
rs886051168
|
0.00004
|
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)
|
rs985377446
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001250.6(CD40):c.*119C>T
|
rs746182207
|
0.00004
|
NM_001250.6(CD40):c.*216A>C
|
rs886056719
|
0.00004
|
NM_001250.6(CD40):c.249C>T (p.Cys83=)
|
rs776893342
|
0.00004
|
NM_001374504.1(TMPRSS6):c.*35T>C
|
rs199957731
|
0.00004
|
NM_001374504.1(TMPRSS6):c.2250+15C>T
|
rs202222895
|
0.00004
|
NM_001374504.1(TMPRSS6):c.973+11del
|
rs780218999
|
0.00004
|
NM_001375808.2(LPIN2):c.*1559A>G
|
rs886053748
|
0.00004
|
NM_001375808.2(LPIN2):c.*1810A>G
|
rs886740636
|
0.00004
|
NM_001375808.2(LPIN2):c.*2724A>G
|
rs886053744
|
0.00004
|
NM_001375808.2(LPIN2):c.*804G>A
|
rs1294529732
|
0.00004
|
NM_001375808.2(LPIN2):c.*828T>G
|
rs776259595
|
0.00004
|
NM_001375808.2(LPIN2):c.*834G>A
|
rs886053753
|
0.00004
|
NM_001375808.2(LPIN2):c.-10+1219C>T
|
rs762246311
|
0.00004
|
NM_001375808.2(LPIN2):c.1456+4C>G
|
rs373685201
|
0.00004
|
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu)
|
rs372850864
|
0.00004
|
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys)
|
rs371299772
|
0.00004
|
NM_001386140.1(MTTP):c.*826T>C
|
rs960548926
|
0.00004
|
NM_001386140.1(MTTP):c.*98T>A
|
rs886058961
|
0.00004
|
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met)
|
rs371307089
|
0.00004
|
NM_001386140.1(MTTP):c.1769+3A>G
|
rs375993709
|
0.00004
|
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00004
|
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
0.00004
|
NM_001430.5(EPAS1):c.*1290C>T
|
rs780890954
|
0.00004
|
NM_001430.5(EPAS1):c.*1305G>A
|
rs78664136
|
0.00004
|
NM_001430.5(EPAS1):c.192G>T (p.Leu64=)
|
rs750515166
|
0.00004
|
NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val)
|
rs749988999
|
0.00004
|
NM_001430.5(EPAS1):c.26+8G>A
|
rs750007571
|
0.00004
|
NM_001710.6(CFB):c.274A>T (p.Thr92Ser)
|
rs369638886
|
0.00004
|
NM_001754.4(RUNX1):c.97+4T>G
|
rs754042987
|
0.00004
|
NM_001754.5(RUNX1):c.*1158C>G
|
rs1197649398
|
0.00004
|
NM_001754.5(RUNX1):c.*2320T>G
|
rs886057040
|
0.00004
|
NM_001754.5(RUNX1):c.*3229C>T
|
rs886057032
|
0.00004
|
NM_001754.5(RUNX1):c.-132G>C
|
rs758735909
|
0.00004
|
NM_001754.5(RUNX1):c.59-12C>G
|
rs202245096
|
0.00004
|
NM_001770.6(CD19):c.*204A>G
|
rs910119387
|
0.00004
|
NM_001770.6(CD19):c.1371C>T (p.Asn457=)
|
rs199570434
|
0.00004
|
NM_001770.6(CD19):c.846C>A (p.His282Gln)
|
rs756204094
|
0.00004
|
NM_001814.6(CTSC):c.*381A>G
|
rs939550734
|
0.00004
|
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln)
|
rs575727793
|
0.00004
|
NM_001994.3(F13B):c.1060T>C (p.Tyr354His)
|
rs376295989
|
0.00004
|
NM_002203.4(ITGA2):c.*3414A>C
|
rs546009701
|
0.00004
|
NM_002203.4(ITGA2):c.*3724T>C
|
rs191917189
|
0.00004
|
NM_002203.4(ITGA2):c.*4083G>C
|
rs974919174
|
0.00004
|
NM_002203.4(ITGA2):c.*859T>C
|
rs886060670
|
0.00004
|
NM_002473.6(MYH9):c.552C>T (p.Thr184=)
|
rs764398831
|
0.00004
|
NM_002658.6(PLAU):c.*631C>T
|
rs886047210
|
0.00004
|
NM_002658.6(PLAU):c.845G>A (p.Arg282His)
|
rs34930250
|
0.00004
|
NM_003126.4(SPTA1):c.*319C>T
|
rs561434223
|
0.00004
|
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00004
|
NM_003126.4(SPTA1):c.1330T>G (p.Ser444Ala)
|
rs202138403
|
0.00004
|
NM_003126.4(SPTA1):c.1691G>A (p.Arg564Gln)
|
rs762400241
|
0.00004
|
NM_003126.4(SPTA1):c.2484C>T (p.Ser828=)
|
rs753103122
|
0.00004
|
NM_003126.4(SPTA1):c.2588-3T>C
|
rs375142282
|
0.00004
|
NM_003126.4(SPTA1):c.3109G>A (p.Asp1037Asn)
|
rs201519091
|
0.00004
|
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)
|
rs3737521
|
0.00004
|
NM_003126.4(SPTA1):c.4430G>A (p.Arg1477His)
|
rs370469842
|
0.00004
|
NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=)
|
rs368542665
|
0.00004
|
NM_003126.4(SPTA1):c.854C>T (p.Pro285Leu)
|
rs755259437
|
0.00004
|
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val)
|
rs779404585
|
0.00004
|
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg)
|
rs764312417
|
0.00004
|
NM_003664.5(AP3B1):c.388C>T (p.Leu130=)
|
rs138774723
|
0.00004
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg)
|
rs886063897
|
0.00004
|
NM_005141.5(FGB):c.752C>T (p.Thr251Ile)
|
rs776988939
|
0.00004
|
NM_005373.3(MPL):c.*204C>A
|
rs938693392
|
0.00004
|
NM_005373.3(MPL):c.*400C>T
|
rs558390922
|
0.00004
|
NM_005373.3(MPL):c.*612G>A
|
rs1037571354
|
0.00004
|
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)
|
rs369714039
|
0.00004
|
NM_005476.7(GNE):c.1767A>G (p.Ala589=)
|
rs777310871
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005570.4(LMAN1):c.*1168C>T
|
rs770166340
|
0.00004
|
NM_005570.4(LMAN1):c.*1565C>T
|
rs140930139
|
0.00004
|
NM_005570.4(LMAN1):c.*2541T>C
|
rs907209594
|
0.00004
|
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro)
|
rs751426915
|
0.00004
|
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)
|
rs760377093
|
0.00004
|
NM_006206.6(PDGFRA):c.*1809G>C
|
rs565989173
|
0.00004
|
NM_006206.6(PDGFRA):c.*2111G>A
|
rs554089461
|
0.00004
|
NM_006206.6(PDGFRA):c.*72C>A
|
rs886059449
|
0.00004
|
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn)
|
rs201610023
|
0.00004
|
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg)
|
rs376109480
|
0.00004
|
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn)
|
rs189170702
|
0.00004
|
NM_006846.4(SPINK5):c.489T>A (p.Ala163=)
|
rs574656084
|
0.00004
|
NM_006846.4(SPINK5):c.606A>C (p.Leu202Phe)
|
rs750627345
|
0.00004
|
NM_006846.4(SPINK5):c.834A>C (p.Gln278His)
|
rs201354872
|
0.00004
|
NM_012092.4(ICOS):c.*512T>C
|
rs577478606
|
0.00004
|
NM_014915.3(ANKRD26):c.-135A>C
|
rs373811579
|
0.00004
|
NM_015175.3(NBEAL2):c.-76G>A
|
rs886058588
|
0.00004
|
NM_015175.3(NBEAL2):c.1212G>A (p.Glu404=)
|
rs769130047
|
0.00004
|
NM_015175.3(NBEAL2):c.3210C>T (p.Arg1070=)
|
rs763972746
|
0.00004
|
NM_015175.3(NBEAL2):c.4000C>G (p.Pro1334Ala)
|
rs564781036
|
0.00004
|
NM_015175.3(NBEAL2):c.4169C>T (p.Ser1390Leu)
|
rs569206224
|
0.00004
|
NM_015175.3(NBEAL2):c.7407G>A (p.Pro2469=)
|
rs568006584
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_017875.4(SLC25A38):c.*370C>T
|
rs886058472
|
0.00004
|
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
|
rs201084086
|
0.00004
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
|
rs776133587
|
0.00004
|
NM_018389.5(SLC35C1):c.*1156C>T
|
rs886048319
|
0.00004
|
NM_018389.5(SLC35C1):c.*1373G>C
|
rs886048320
|
0.00004
|
NM_018389.5(SLC35C1):c.*244G>A
|
rs886048316
|
0.00004
|
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)
|
rs567155861
|
0.00004
|
NM_018947.6(CYCS):c.147C>T (p.Tyr49=)
|
rs375916000
|
0.00004
|
NM_019616.4(F7):c.*679A>C
|
rs1287125003
|
0.00004
|
NM_020661.4(AICDA):c.*1296C>T
|
rs748400078
|
0.00004
|
NM_020661.4(AICDA):c.*1684T>C
|
rs1026369274
|
0.00004
|
NM_021870.3(FGG):c.19C>T (p.Pro7Ser)
|
rs374845868
|
0.00004
|
NM_021871.4(FGA):c.1838A>G (p.His613Arg)
|
rs201686865
|
0.00004
|
NM_021871.4(FGA):c.765G>A (p.Pro255=)
|
rs779582722
|
0.00004
|
NM_021871.4(FGA):c.923G>A (p.Arg308Gln)
|
rs760992799
|
0.00004
|
NM_022051.2(EGLN1):c.-1517A>G
|
rs750706558
|
0.00004
|
NM_022051.2(EGLN1):c.-1959G>A
|
rs886046128
|
0.00004
|
NM_022081.6(HPS4):c.*1359A>T
|
rs886057298
|
0.00004
|
NM_022081.6(HPS4):c.*1576C>T
|
rs886057297
|
0.00004
|
NM_022081.6(HPS4):c.*842G>A
|
rs887874663
|
0.00004
|
NM_022081.6(HPS4):c.*946G>A
|
rs1014910744
|
0.00004
|
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile)
|
rs202222123
|
0.00004
|
NM_022081.6(HPS4):c.570C>T (p.Leu190=)
|
rs201820144
|
0.00004
|
NM_022081.6(HPS4):c.680C>T (p.Thr227Met)
|
rs201806802
|
0.00004
|
NM_022725.4(FANCF):c.*1119T>A
|
rs558392453
|
0.00004
|
NM_022725.4(FANCF):c.*412T>A
|
rs1310827545
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly)
|
rs757589760
|
0.00004
|
NM_025215.6(PUS1):c.-287G>C
|
rs886049088
|
0.00004
|
NM_025215.6(PUS1):c.426C>T (p.Cys142=)
|
rs554459931
|
0.00004
|
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)
|
rs776342428
|
0.00004
|
NM_032043.3(BRIP1):c.*524A>G
|
rs371689236
|
0.00004
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro)
|
rs752370839
|
0.00004
|
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp)
|
rs371986139
|
0.00004
|
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)
|
rs752899329
|
0.00004
|
NM_032444.4(SLX4):c.1740C>T (p.Ser580=)
|
rs200354014
|
0.00004
|
NM_032444.4(SLX4):c.2125G>A (p.Val709Met)
|
rs151026877
|
0.00004
|
NM_032444.4(SLX4):c.2991G>A (p.Pro997=)
|
rs770736311
|
0.00004
|
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His)
|
rs139544666
|
0.00004
|
NM_032444.4(SLX4):c.4740-6C>T
|
rs377066518
|
0.00004
|
NM_032444.4(SLX4):c.489T>G (p.Gly163=)
|
rs201211891
|
0.00004
|
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
|
rs752633436
|
0.00004
|
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
|
rs560381786
|
0.00004
|
NM_032638.5(GATA2):c.*13C>T
|
rs750895467
|
0.00004
|
NM_032638.5(GATA2):c.*570C>T
|
rs868031897
|
0.00004
|
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro)
|
rs746362966
|
0.00004
|
NM_032844.4(MASTL):c.-345T>C
|
rs886046954
|
0.00004
|
NM_032844.4(MASTL):c.-346delG
|
rs886046953
|
0.00004
|
NM_052945.4(TNFRSF13C):c.*113G>A
|
rs550105406
|
0.00004
|
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=)
|
rs369626832
|
0.00004
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
NM_080669.6(SLC46A1):c.*1006A>C
|
rs886052749
|
0.00004
|
NM_080669.6(SLC46A1):c.*2493A>G
|
rs886052746
|
0.00004
|
NM_080669.6(SLC46A1):c.*297C>T
|
rs1386304942
|
0.00004
|
NM_080669.6(SLC46A1):c.*351C>T
|
rs1207587504
|
0.00004
|
NM_080669.6(SLC46A1):c.*785T>G
|
rs886052750
|
0.00004
|
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala)
|
rs369191223
|
0.00004
|
NM_080911.3(UNG):c.81C>A (p.Ala27=)
|
rs761928219
|
0.00004
|
NM_138477.4(CDAN1):c.*349A>G
|
rs886051156
|
0.00004
|
NM_138477.4(CDAN1):c.2361G>A (p.Ala787=)
|
rs377342875
|
0.00004
|
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser)
|
rs776881666
|
0.00004
|
NM_138477.4(CDAN1):c.324C>T (p.Ser108=)
|
rs945794101
|
0.00004
|
NM_138477.4(CDAN1):c.3559-10T>C
|
rs543020087
|
0.00004
|
NM_139027.6(ADAMTS13):c.1787-6C>T
|
rs781938740
|
0.00004
|
NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met)
|
rs367818172
|
0.00004
|
NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=)
|
rs782748173
|
0.00004
|
NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln)
|
rs587731517
|
0.00004
|
NM_139027.6(ADAMTS13):c.3517G>A (p.Val1173Ile)
|
rs587643681
|
0.00004
|
NM_139027.6(ADAMTS13):c.539+6C>T
|
rs782661001
|
0.00004
|
NM_139276.3(STAT3):c.*1196T>C
|
rs193126798
|
0.00004
|
NM_139279.6(MCFD2):c.*1151G>C
|
rs761404637
|
0.00004
|
NM_152564.5(VPS13B):c.*1540T>C
|
rs148026916
|
0.00004
|
NM_152564.5(VPS13B):c.-30T>A
|
rs886062533
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys)
|
rs370172252
|
0.00004
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)
|
rs398124329
|
0.00004
|
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met)
|
rs199574731
|
0.00004
|
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=)
|
rs199881514
|
0.00004
|
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His)
|
rs755227174
|
0.00004
|
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr)
|
rs779082817
|
0.00004
|
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser)
|
rs750125340
|
0.00004
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
NM_172351.3(CD46):c.*52G>A
|
rs373138507
|
0.00004
|
NM_172351.3(CD46):c.-6C>T
|
rs886045836
|
0.00004
|
NM_172351.3(CD46):c.245G>A (p.Arg82Gln)
|
rs761000846
|
0.00004
|
NM_172351.3(CD46):c.293C>T (p.Thr98Ile)
|
rs116800126
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)
|
rs754189788
|
0.00004
|
NM_181507.2(HPS5):c.535G>A (p.Val179Ile)
|
rs373277149
|
0.00004
|
NM_183235.3(RAB27A):c.-142-84C>T
|
rs992388018
|
0.00004
|
NM_183235.3(RAB27A):c.168T>C (p.Ser56=)
|
rs376232909
|
0.00004
|
NM_198253.3(TERT):c.*230T>C
|
rs751808151
|
0.00004
|
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)
|
rs576633619
|
0.00004
|
NM_198253.3(TERT):c.2580C>T (p.Asp860=)
|
rs751752830
|
0.00004
|
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)
|
rs373400596
|
0.00004
|
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)
|
rs376255453
|
0.00004
|
NM_203447.4(DOCK8):c.*182T>C
|
rs982509861
|
0.00004
|
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile)
|
rs148994877
|
0.00004
|
NM_203447.4(DOCK8):c.1098G>A (p.Thr366=)
|
rs139297216
|
0.00004
|
NM_203447.4(DOCK8):c.3414C>A (p.Phe1138Leu)
|
rs781435688
|
0.00004
|
NM_203447.4(DOCK8):c.4024-6G>C
|
rs555906969
|
0.00004
|
NM_203447.4(DOCK8):c.5595C>G (p.Ile1865Met)
|
rs151208894
|
0.00004
|
NM_203447.4(DOCK8):c.686C>A (p.Ala229Asp)
|
rs745614955
|
0.00004
|
NM_000037.4(ANK1):c.*1031G>A
|
rs867723923
|
0.00003
|
NM_000037.4(ANK1):c.*2172C>A
|
rs886062930
|
0.00003
|
NM_000037.4(ANK1):c.*4C>T
|
rs201561226
|
0.00003
|
NM_000037.4(ANK1):c.*64A>G
|
rs767748017
|
0.00003
|
NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser)
|
rs375151253
|
0.00003
|
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile)
|
rs150655828
|
0.00003
|
NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser)
|
rs138685137
|
0.00003
|
NM_000037.4(ANK1):c.2835G>A (p.Ala945=)
|
rs771079681
|
0.00003
|
NM_000037.4(ANK1):c.4259-13T>C
|
rs772895763
|
0.00003
|
NM_000037.4(ANK1):c.4390+9C>T
|
rs751035092
|
0.00003
|
NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser)
|
rs755637526
|
0.00003
|
NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile)
|
rs1060130
|
0.00003
|
NM_000037.4(ANK1):c.5008G>A (p.Val1670Met)
|
rs886062937
|
0.00003
|
NM_000037.4(ANK1):c.617G>A (p.Gly206Glu)
|
rs886062943
|
0.00003
|
NM_000057.4(BLM):c.-29C>T
|
rs886051549
|
0.00003
|
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly)
|
rs370293537
|
0.00003
|
NM_000059.4(BRCA2):c.*172G>A
|
rs574944914
|
0.00003
|
NM_000059.4(BRCA2):c.*345A>G
|
rs886050113
|
0.00003
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
|
rs145136281
|
0.00003
|
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)
|
rs140284566
|
0.00003
|
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)
|
rs142344106
|
0.00003
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
NM_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
0.00003
|
NM_000128.4(F11):c.478G>T (p.Glu160Ter)
|
rs376961859
|
0.00003
|
NM_000129.4(F13A1):c.1112+11T>C
|
rs758486753
|
0.00003
|
NM_000129.4(F13A1):c.1748-7C>G
|
rs746371632
|
0.00003
|
NM_000130.5(F5):c.*1132A>G
|
rs185213313
|
0.00003
|
NM_000130.5(F5):c.*1257A>C
|
rs527497923
|
0.00003
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
NM_000130.5(F5):c.738A>G (p.Thr246=)
|
rs375739973
|
0.00003
|
NM_000130.5(F5):c.886G>A (p.Ala296Thr)
|
rs748350385
|
0.00003
|
NM_000132.4(F8):c.*1175G>C
|
rs950453657
|
0.00003
|
NM_000132.4(F8):c.*288C>A
|
rs1044626956
|
0.00003
|
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala)
|
rs139348729
|
0.00003
|
NM_000133.4(F9):c.485G>A (p.Arg162Gln)
|
rs779281053
|
0.00003
|
NM_000135.4(FANCA):c.*672G>C
|
rs17233819
|
0.00003
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
|
rs769158149
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
|
rs370731587
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.*1468C>T
|
rs780382671
|
0.00003
|
NM_000136.3(FANCC):c.*2052G>C
|
rs539833295
|
0.00003
|
NM_000136.3(FANCC):c.*2246G>T
|
rs1367873898
|
0.00003
|
NM_000136.3(FANCC):c.*2564C>T
|
rs945363629
|
0.00003
|
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)
|
rs55939573
|
0.00003
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
NM_000174.5(GP9):c.438G>A (p.Pro146=)
|
rs767278544
|
0.00003
|
NM_000174.5(GP9):c.533G>A (p.Ter178=)
|
rs566144272
|
0.00003
|
NM_000195.5(HPS1):c.*327G>A
|
rs886046590
|
0.00003
|
NM_000195.5(HPS1):c.1239G>T (p.Pro413=)
|
rs777125097
|
0.00003
|
NM_000195.5(HPS1):c.256-4G>A
|
rs372404024
|
0.00003
|
NM_000195.5(HPS1):c.468C>T (p.Tyr156=)
|
rs772192145
|
0.00003
|
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu)
|
rs773953162
|
0.00003
|
NM_000211.5(ITGB2):c.2078G>A (p.Arg693Gln)
|
rs200335681
|
0.00003
|
NM_000212.3(ITGB3):c.*1932C>G
|
rs886053097
|
0.00003
|
NM_000212.3(ITGB3):c.*758C>G
|
rs886053094
|
0.00003
|
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His)
|
rs369443204
|
0.00003
|
NM_000289.6(PFKM):c.*668G>T
|
rs535423254
|
0.00003
|
NM_000298.6(PKLR):c.*1105G>A
|
rs937795186
|
0.00003
|
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)
|
rs756549612
|
0.00003
|
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
|
rs142238268
|
0.00003
|
NM_000298.6(PKLR):c.790C>T (p.Leu264=)
|
rs199959447
|
0.00003
|
NM_000298.6(PKLR):c.918C>A (p.His306Gln)
|
rs141571402
|
0.00003
|
NM_000312.4(PROC):c.1318C>T (p.Arg440Cys)
|
rs886054848
|
0.00003
|
NM_000342.4(SLC4A1):c.1431+15G>T
|
rs886052999
|
0.00003
|
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)
|
rs775095594
|
0.00003
|
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys)
|
rs539987014
|
0.00003
|
NM_000355.4(TCN2):c.1063G>A (p.Val355Met)
|
rs780429477
|
0.00003
|
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln)
|
rs760721315
|
0.00003
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
NM_000361.3(THBD):c.*230T>G
|
rs985689499
|
0.00003
|
NM_000361.3(THBD):c.331G>A (p.Val111Ile)
|
rs886056549
|
0.00003
|
NM_000361.3(THBD):c.716C>T (p.Ala239Val)
|
rs886056547
|
0.00003
|
NM_000365.6(TPI1):c.*260G>A
|
rs782764628
|
0.00003
|
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
|
rs139532537
|
0.00003
|
NM_000373.4(UMPS):c.*1853G>A
|
rs552936733
|
0.00003
|
NM_000373.4(UMPS):c.*2054A>G
|
rs886057876
|
0.00003
|
NM_000373.4(UMPS):c.*2356T>C
|
rs148772995
|
0.00003
|
NM_000373.4(UMPS):c.*2783C>T
|
rs150877793
|
0.00003
|
NM_000373.4(UMPS):c.*4496G>A
|
rs886057896
|
0.00003
|
NM_000373.4(UMPS):c.*4934A>G
|
rs1274590115
|
0.00003
|
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala)
|
rs541686805
|
0.00003
|
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)
|
rs143425834
|
0.00003
|
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys)
|
rs747610107
|
0.00003
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
NM_000419.5(ITGA2B):c.1739T>C (p.Met580Thr)
|
rs768008625
|
0.00003
|
NM_000419.5(ITGA2B):c.2471C>G (p.Thr824Ser)
|
rs780567683
|
0.00003
|
NM_000419.5(ITGA2B):c.43G>A (p.Glu15Lys)
|
rs779592785
|
0.00003
|
NM_000433.4(NCF2):c.*262C>T
|
rs201050705
|
0.00003
|
NM_000433.4(NCF2):c.837G>A (p.Thr279=)
|
rs942486247
|
0.00003
|
NM_000460.4(THPO):c.183G>T (p.Leu61=)
|
rs200666378
|
0.00003
|
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)
|
rs183416252
|
0.00003
|
NM_000504.3(F10):c.-60G>A
|
rs3212993
|
0.00003
|
NM_000504.4(F10):c.348C>T (p.Phe116=)
|
rs747030511
|
0.00003
|
NM_000505.4(F12):c.1018+14G>T
|
rs779057710
|
0.00003
|
NM_000505.4(F12):c.1251-12C>A
|
rs747726864
|
0.00003
|
NM_000505.4(F12):c.1704G>A (p.Val568=)
|
rs536390950
|
0.00003
|
NM_000505.4(F12):c.630C>T (p.Asp210=)
|
rs886060471
|
0.00003
|
NM_000505.4(F12):c.928A>T (p.Arg310Trp)
|
rs749549919
|
0.00003
|
NM_000506.5(F2):c.*44G>T
|
rs759287343
|
0.00003
|
NM_000506.5(F2):c.874+13G>A
|
rs764029414
|
0.00003
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_000519.3(HBD):c.-180A>G
|
rs186432678
|
0.00003
|
NM_000552.5(VWF):c.1051G>A (p.Val351Met)
|
rs535978867
|
0.00003
|
NM_000552.5(VWF):c.2025G>A (p.Pro675=)
|
rs779045480
|
0.00003
|
NM_000552.5(VWF):c.3720G>A (p.Pro1240=)
|
rs141792415
|
0.00003
|
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln)
|
rs886049741
|
0.00003
|
NM_000552.5(VWF):c.6976+11C>T
|
rs751395078
|
0.00003
|
NM_000602.5(SERPINE1):c.*1437C>A
|
rs1328400454
|
0.00003
|
NM_000602.5(SERPINE1):c.191C>T (p.Ser64Leu)
|
rs758271488
|
0.00003
|
NM_000602.5(SERPINE1):c.649G>A (p.Gly217Ser)
|
rs766181190
|
0.00003
|
NM_000617.3(SLC11A2):c.*1007A>G
|
rs886049560
|
0.00003
|
NM_000617.3(SLC11A2):c.*1559G>T
|
rs777649881
|
0.00003
|
NM_000617.3(SLC11A2):c.*1902C>G
|
rs886049558
|
0.00003
|
NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=)
|
rs761054843
|
0.00003
|
NM_000617.3(SLC11A2):c.514A>G (p.Ile172Val)
|
rs886049568
|
0.00003
|
NM_000821.7(GGCX):c.*2716A>G
|
rs901180216
|
0.00003
|
NM_000821.7(GGCX):c.*4215G>A
|
rs886056358
|
0.00003
|
NM_000821.7(GGCX):c.*856T>C
|
rs886056374
|
0.00003
|
NM_001001548.3(CD36):c.159T>C (p.Asn53=)
|
rs886062452
|
0.00003
|
NM_001001548.3(CD36):c.410T>C (p.Val137Ala)
|
rs2272350
|
0.00003
|
NM_001001548.3(CD36):c.429+5G>T
|
rs753625642
|
0.00003
|
NM_001001548.3(CD36):c.44T>C (p.Ile15Thr)
|
rs778587030
|
0.00003
|
NM_001001548.3(CD36):c.590C>T (p.Thr197Ile)
|
rs757827176
|
0.00003
|
NM_001001548.3(CD36):c.609+1G>A
|
rs755124649
|
0.00003
|
NM_001001548.3(CD36):c.682G>A (p.Asp228Asn)
|
rs774794181
|
0.00003
|
NM_001001548.3(CD36):c.819-12C>A
|
rs780361615
|
0.00003
|
NM_001011.4(RPS7):c.-86C>T
|
rs186304514
|
0.00003
|
NM_001018115.3(FANCD2):c.1440T>C (p.His480=)
|
rs375412395
|
0.00003
|
NM_001018115.3(FANCD2):c.1545+9T>C
|
rs769459614
|
0.00003
|
NM_001018115.3(FANCD2):c.1948-7C>T
|
rs757782326
|
0.00003
|
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu)
|
rs759516610
|
0.00003
|
NM_001081.4(CUBN):c.*15G>A
|
rs751434522
|
0.00003
|
NM_001081.4(CUBN):c.*297C>T
|
rs886046857
|
0.00003
|
NM_001081.4(CUBN):c.*373G>T
|
rs780298022
|
0.00003
|
NM_001081.4(CUBN):c.*669C>T
|
rs992917155
|
0.00003
|
NM_001081.4(CUBN):c.*81C>A
|
rs886046861
|
0.00003
|
NM_001081.4(CUBN):c.10764+1G>A
|
rs374982220
|
0.00003
|
NM_001081.4(CUBN):c.1653C>T (p.Ser551=)
|
rs372499101
|
0.00003
|
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
|
rs200658389
|
0.00003
|
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
|
rs368224687
|
0.00003
|
NM_001081.4(CUBN):c.387+13C>T
|
rs766779196
|
0.00003
|
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=)
|
rs534571792
|
0.00003
|
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser)
|
rs759351780
|
0.00003
|
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
|
rs374628341
|
0.00003
|
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)
|
rs760990753
|
0.00003
|
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
|
rs151303316
|
0.00003
|
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=)
|
rs749545791
|
0.00003
|
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
|
rs147160034
|
0.00003
|
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)
|
rs201002833
|
0.00003
|
NM_001113378.2(FANCI):c.1890+3A>G
|
rs886051510
|
0.00003
|
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)
|
rs143105092
|
0.00003
|
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His)
|
rs777483611
|
0.00003
|
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr)
|
rs375746069
|
0.00003
|
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)
|
rs964069381
|
0.00003
|
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
|
rs774564150
|
0.00003
|
NM_001114134.2(EPB42):c.1173C>T (p.Ala391=)
|
rs779896054
|
0.00003
|
NM_001114134.2(EPB42):c.1964C>T (p.Thr655Met)
|
rs369127523
|
0.00003
|
NM_001172303.3(MASTL):c.518C>T (p.Thr173Met)
|
rs374260260
|
0.00003
|
NM_001172303.3(MASTL):c.996A>G (p.Glu332=)
|
rs370895860
|
0.00003
|
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)
|
rs773402743
|
0.00003
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
0.00003
|
NM_001250.6(CD40):c.*338A>G
|
rs886056721
|
0.00003
|
NM_001250.6(CD40):c.444C>T (p.Val148=)
|
rs745496687
|
0.00003
|
NM_001374504.1(TMPRSS6):c.*303T>G
|
rs886057490
|
0.00003
|
NM_001375808.2(LPIN2):c.*252G>A
|
rs886053762
|
0.00003
|
NM_001375808.2(LPIN2):c.*275C>G
|
rs886053761
|
0.00003
|
NM_001375808.2(LPIN2):c.*2999C>A
|
rs138807947
|
0.00003
|
NM_001375808.2(LPIN2):c.*448C>T
|
rs886053759
|
0.00003
|
NM_001375808.2(LPIN2):c.*934G>C
|
rs1032890815
|
0.00003
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
NM_001430.5(EPAS1):c.*1182G>A
|
rs967868215
|
0.00003
|
NM_001430.5(EPAS1):c.*150T>G
|
rs769123299
|
0.00003
|
NM_001430.5(EPAS1):c.*1620G>C
|
rs886056102
|
0.00003
|
NM_001430.5(EPAS1):c.*408T>C
|
rs146764927
|
0.00003
|
NM_001430.5(EPAS1):c.-200A>C
|
rs886056080
|
0.00003
|
NM_001430.5(EPAS1):c.1248C>T (p.Phe416=)
|
rs761886735
|
0.00003
|
NM_001710.6(CFB):c.*16A>T
|
rs749158582
|
0.00003
|
NM_001710.6(CFB):c.-3G>A
|
rs755016493
|
0.00003
|
NM_001710.6(CFB):c.1227A>G (p.Leu409=)
|
rs761050063
|
0.00003
|
NM_001710.6(CFB):c.1593T>C (p.Asp531=)
|
rs886061296
|
0.00003
|
NM_001710.6(CFB):c.321C>T (p.His107=)
|
rs767428982
|
0.00003
|
NM_001754.5(RUNX1):c.*2347C>A
|
rs984388295
|
0.00003
|
NM_001754.5(RUNX1):c.*316G>T
|
rs899596480
|
0.00003
|
NM_001754.5(RUNX1):c.*3277G>T
|
rs187846118
|
0.00003
|
NM_001754.5(RUNX1):c.*4147C>G
|
rs886057029
|
0.00003
|
NM_001754.5(RUNX1):c.*68G>T
|
rs886057046
|
0.00003
|
NM_001754.5(RUNX1):c.585C>T (p.Ile195=)
|
rs2057541413
|
0.00003
|
NM_001770.6(CD19):c.1469G>A (p.Arg490Gln)
|
rs146223289
|
0.00003
|
NM_001770.6(CD19):c.1635del (p.Gly546fs)
|
rs774006181
|
0.00003
|
NM_001770.6(CD19):c.384C>T (p.Asp128=)
|
rs200748731
|
0.00003
|
NM_001770.6(CD19):c.835+3A>G
|
rs374608144
|
0.00003
|
NM_001994.3(F13B):c.-30T>A
|
rs767006990
|
0.00003
|
NM_001994.3(F13B):c.224C>T (p.Thr75Met)
|
rs915458369
|
0.00003
|
NM_002203.4(ITGA2):c.*2608A>G
|
rs886060681
|
0.00003
|
NM_002203.4(ITGA2):c.*3113G>C
|
rs886060686
|
0.00003
|
NM_002203.4(ITGA2):c.2826-12A>T
|
rs886060661
|
0.00003
|
NM_002473.6(MYH9):c.-153C>T
|
rs886057485
|
0.00003
|
NM_002473.6(MYH9):c.4077C>T (p.Ile1359=)
|
rs199693307
|
0.00003
|
NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val)
|
rs1205219578
|
0.00003
|
NM_002658.6(PLAU):c.368+6G>C
|
rs186447765
|
0.00003
|
NM_002693.3(POLG):c.3644-116T>C
|
rs777372106
|
0.00003
|
NM_003126.4(SPTA1):c.1308C>T (p.Leu436=)
|
rs777881486
|
0.00003
|
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met)
|
rs147677656
|
0.00003
|
NM_003126.4(SPTA1):c.1409G>A (p.Arg470His)
|
rs370498187
|
0.00003
|
NM_003126.4(SPTA1):c.1489G>T (p.Ala497Ser)
|
rs200722082
|
0.00003
|
NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys)
|
rs565611676
|
0.00003
|
NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys)
|
rs762361277
|
0.00003
|
NM_003126.4(SPTA1):c.4287G>T (p.Leu1429=)
|
rs886045384
|
0.00003
|
NM_003126.4(SPTA1):c.480C>G (p.Phe160Leu)
|
rs764615925
|
0.00003
|
NM_003126.4(SPTA1):c.521T>C (p.Ile174Thr)
|
rs1221196778
|
0.00003
|
NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His)
|
rs779823270
|
0.00003
|
NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=)
|
rs756418963
|
0.00003
|
NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys)
|
rs774112593
|
0.00003
|
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
|
rs148160411
|
0.00003
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
NM_005141.5(FGB):c.*1542T>C
|
rs886059146
|
0.00003
|
NM_005141.5(FGB):c.*15A>G
|
rs375561591
|
0.00003
|
NM_005141.5(FGB):c.*1867T>C
|
rs886059148
|
0.00003
|
NM_005141.5(FGB):c.*303C>T
|
rs886059142
|
0.00003
|
NM_005141.5(FGB):c.4A>G (p.Lys2Glu)
|
rs6053
|
0.00003
|
NM_005141.5(FGB):c.749A>G (p.Glu250Gly)
|
rs759800033
|
0.00003
|
NM_005142.3(CBLIF):c.371-15C>T
|
rs759810252
|
0.00003
|
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg)
|
rs886048402
|
0.00003
|
NM_005373.3(MPL):c.*578C>T
|
rs565438629
|
0.00003
|
NM_005476.7(GNE):c.*2245A>T
|
rs1193929989
|
0.00003
|
NM_005476.7(GNE):c.*512C>T
|
rs537851886
|
0.00003
|
NM_005476.7(GNE):c.*554G>A
|
rs755277976
|
0.00003
|
NM_005476.7(GNE):c.-51C>T
|
rs368282013
|
0.00003
|
NM_005570.4(LMAN1):c.*1332C>G
|
rs779423308
|
0.00003
|
NM_005570.4(LMAN1):c.*2650G>A
|
rs886054030
|
0.00003
|
NM_005570.4(LMAN1):c.-5C>T
|
rs765835101
|
0.00003
|
NM_005570.4(LMAN1):c.512A>G (p.Asn171Ser)
|
rs778293644
|
0.00003
|
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser)
|
rs375734554
|
0.00003
|
NM_006563.5(KLF1):c.*263C>T
|
rs867980189
|
0.00003
|
NM_006846.4(SPINK5):c.*78A>G
|
rs774183421
|
0.00003
|
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn)
|
rs754319450
|
0.00003
|
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys)
|
rs374003659
|
0.00003
|
NM_006947.4(SRP72):c.*1678C>T
|
rs886059503
|
0.00003
|
NM_006947.4(SRP72):c.*1764A>G
|
rs192226722
|
0.00003
|
NM_006996.3(SLC19A2):c.*31A>G
|
rs777625943
|
0.00003
|
NM_006996.3(SLC19A2):c.*658T>C
|
rs1038511649
|
0.00003
|
NM_006996.3(SLC19A2):c.-12C>G
|
rs772886076
|
0.00003
|
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr)
|
rs374046494
|
0.00003
|
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe)
|
rs759321228
|
0.00003
|
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys)
|
rs548333207
|
0.00003
|
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser)
|
rs17847481
|
0.00003
|
NM_012092.4(ICOS):c.-24G>T
|
rs576726896
|
0.00003
|
NM_012092.4(ICOS):c.42C>A (p.Arg14=)
|
rs765158675
|
0.00003
|
NM_012092.4(ICOS):c.510A>G (p.Ser170=)
|
rs148435889
|
0.00003
|
NM_014915.3(ANKRD26):c.4676A>G (p.Tyr1559Cys)
|
rs557821284
|
0.00003
|
NM_014915.3(ANKRD26):c.739A>T (p.Arg247Trp)
|
rs765170468
|
0.00003
|
NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr)
|
rs766113174
|
0.00003
|
NM_015175.3(NBEAL2):c.2556+12C>A
|
rs771441339
|
0.00003
|
NM_015175.3(NBEAL2):c.277G>A (p.Glu93Lys)
|
rs750925242
|
0.00003
|
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile)
|
rs775313250
|
0.00003
|
NM_015175.3(NBEAL2):c.4361C>T (p.Thr1454Met)
|
rs371607035
|
0.00003
|
NM_015175.3(NBEAL2):c.4676G>A (p.Arg1559His)
|
rs560621411
|
0.00003
|
NM_015175.3(NBEAL2):c.4789G>A (p.Ala1597Thr)
|
rs147659992
|
0.00003
|
NM_015175.3(NBEAL2):c.4979G>A (p.Arg1660His)
|
rs756124320
|
0.00003
|
NM_015175.3(NBEAL2):c.5900G>A (p.Arg1967Gln)
|
rs374748722
|
0.00003
|
NM_015175.3(NBEAL2):c.6258G>A (p.Ala2086=)
|
rs371080261
|
0.00003
|
NM_015702.3(MMADHC):c.*267T>C
|
rs546054980
|
0.00003
|
NM_017875.4(SLC25A38):c.*395G>A
|
rs576792249
|
0.00003
|
NM_018062.4(FANCL):c.*515A>C
|
rs971589098
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_018389.5(SLC35C1):c.*1031G>A
|
rs1476944695
|
0.00003
|
NM_018389.5(SLC35C1):c.*1229C>T
|
rs938496129
|
0.00003
|
NM_018389.5(SLC35C1):c.*528G>A
|
rs886048317
|
0.00003
|
NM_018389.5(SLC35C1):c.-518C>A
|
rs886048309
|
0.00003
|
NM_019616.4(F7):c.*1054C>A
|
rs546634569
|
0.00003
|
NM_019616.4(F7):c.*284C>T
|
rs750831181
|
0.00003
|
NM_019616.4(F7):c.-27C>T
|
rs886049985
|
0.00003
|
NM_021870.3(FGG):c.1285G>T (p.Gly429Trp)
|
rs145938787
|
0.00003
|
NM_021871.4(FGA):c.1718G>A (p.Arg573His)
|
rs78506343
|
0.00003
|
NM_021922.3(FANCE):c.-132A>G
|
rs886061325
|
0.00003
|
NM_022051.2(EGLN1):c.-2568G>T
|
rs185603039
|
0.00003
|
NM_022051.3(EGLN1):c.*1010C>T
|
rs886046100
|
0.00003
|
NM_022051.3(EGLN1):c.*1854T>G
|
rs774937283
|
0.00003
|
NM_022051.3(EGLN1):c.*421A>G
|
rs886046107
|
0.00003
|
NM_022051.3(EGLN1):c.*603C>A
|
rs886046104
|
0.00003
|
NM_022081.6(HPS4):c.*1594G>C
|
rs886057296
|
0.00003
|
NM_022081.6(HPS4):c.*197G>T
|
rs550753111
|
0.00003
|
NM_022081.6(HPS4):c.*369C>T
|
rs886057316
|
0.00003
|
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu)
|
rs778872709
|
0.00003
|
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu)
|
rs746492833
|
0.00003
|
NM_022725.3(FANCF):c.-21A>G
|
rs751857151
|
0.00003
|
NM_022725.4(FANCF):c.*1884T>C
|
rs760103091
|
0.00003
|
NM_022725.4(FANCF):c.*2071A>G
|
rs886048148
|
0.00003
|
NM_022725.4(FANCF):c.*597G>A
|
rs373336301
|
0.00003
|
NM_022725.4(FANCF):c.*7C>G
|
rs770964562
|
0.00003
|
NM_022725.4(FANCF):c.101C>T (p.Ala34Val)
|
rs780228540
|
0.00003
|
NM_024006.6(VKORC1):c.173+11G>T
|
rs201515545
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_024747.6(HPS6):c.1181T>C (p.Val394Ala)
|
rs146521433
|
0.00003
|
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp)
|
rs781537152
|
0.00003
|
NM_024747.6(HPS6):c.2112C>T (p.Leu704=)
|
rs764640708
|
0.00003
|
NM_025215.6(PUS1):c.-246G>A
|
rs886049090
|
0.00003
|
NM_025215.6(PUS1):c.-266G>C
|
rs886049089
|
0.00003
|
NM_032043.2(BRIP1):c.-307G>A
|
rs936277521
|
0.00003
|
NM_032043.3(BRIP1):c.*1393G>T
|
rs754698039
|
0.00003
|
NM_032043.3(BRIP1):c.*2668G>A
|
rs886053206
|
0.00003
|
NM_032043.3(BRIP1):c.*2691C>G
|
rs886053205
|
0.00003
|
NM_032043.3(BRIP1):c.*2999T>C
|
rs1357312726
|
0.00003
|
NM_032043.3(BRIP1):c.*3635T>C
|
rs548812634
|
0.00003
|
NM_032043.3(BRIP1):c.*3924T>G
|
rs886053195
|
0.00003
|
NM_032043.3(BRIP1):c.*900C>A
|
rs886053210
|
0.00003
|
NM_032043.3(BRIP1):c.-229C>G
|
rs886053217
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val)
|
rs773950483
|
0.00003
|
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys)
|
rs199882259
|
0.00003
|
NM_032444.4(SLX4):c.*652A>G
|
rs546917026
|
0.00003
|
NM_032444.4(SLX4):c.-399C>T
|
rs1177862096
|
0.00003
|
NM_032444.4(SLX4):c.-603+8G>C
|
rs886051987
|
0.00003
|
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln)
|
rs200030312
|
0.00003
|
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys)
|
rs762550449
|
0.00003
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr)
|
rs764210911
|
0.00003
|
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
|
rs144454312
|
0.00003
|
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp)
|
rs202237877
|
0.00003
|
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)
|
rs200842643
|
0.00003
|
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)
|
rs201359490
|
0.00003
|
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)
|
rs886051977
|
0.00003
|
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
|
rs199912910
|
0.00003
|
NM_032638.5(GATA2):c.*988T>G
|
rs1349296825
|
0.00003
|
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
|
rs201155045
|
0.00003
|
NM_032638.5(GATA2):c.1347C>A (p.Ser449=)
|
rs150052821
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
NM_080669.6(SLC46A1):c.*1336G>A
|
rs1435694827
|
0.00003
|
NM_080669.6(SLC46A1):c.*2273A>G
|
rs542078425
|
0.00003
|
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr)
|
rs782457383
|
0.00003
|
NM_080911.3(UNG):c.*111A>T
|
rs770692724
|
0.00003
|
NM_080911.3(UNG):c.36C>A (p.Ser12=)
|
rs772832695
|
0.00003
|
NM_138387.4(G6PC3):c.219-13T>C
|
rs773122600
|
0.00003
|
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser)
|
rs202163545
|
0.00003
|
NM_138477.4(CDAN1):c.2516C>T (p.Pro839Leu)
|
rs772668700
|
0.00003
|
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val)
|
rs80338698
|
0.00003
|
NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile)
|
rs745816995
|
0.00003
|
NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=)
|
rs141832648
|
0.00003
|
NM_138477.4(CDAN1):c.943+4A>T
|
rs771288663
|
0.00003
|
NM_139025.4(ADAMTS13):c.-155C>T
|
rs587712950
|
0.00003
|
NM_139027.6(ADAMTS13):c.824+12C>T
|
rs587678724
|
0.00003
|
NM_139276.2(STAT3):c.-211G>T
|
rs902564848
|
0.00003
|
NM_139276.3(STAT3):c.*165T>G
|
rs930137822
|
0.00003
|
NM_139276.3(STAT3):c.*1970A>G
|
rs1475716153
|
0.00003
|
NM_139279.6(MCFD2):c.*311G>A
|
rs886056115
|
0.00003
|
NM_139279.6(MCFD2):c.*375T>C
|
rs957621417
|
0.00003
|
NM_139279.6(MCFD2):c.106C>G (p.Pro36Ala)
|
rs756021929
|
0.00003
|
NM_139279.6(MCFD2):c.416C>T (p.Ala139Val)
|
rs80294301
|
0.00003
|
NM_152564.5(VPS13B):c.*140G>A
|
rs535987441
|
0.00003
|
NM_152564.5(VPS13B):c.*637C>G
|
rs565441903
|
0.00003
|
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile)
|
rs781253026
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met)
|
rs191099208
|
0.00003
|
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His)
|
rs200229383
|
0.00003
|
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys)
|
rs1226670439
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys)
|
rs886062535
|
0.00003
|
NM_172351.3(CD46):c.*1265T>C
|
rs753496695
|
0.00003
|
NM_172351.3(CD46):c.*180T>C
|
rs886045840
|
0.00003
|
NM_172351.3(CD46):c.*614T>C
|
rs561506830
|
0.00003
|
NM_172351.3(CD46):c.1104C>T (p.Thr368=)
|
rs764242699
|
0.00003
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
NM_181507.2(HPS5):c.-64A>G
|
rs886048084
|
0.00003
|
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu)
|
rs756408229
|
0.00003
|
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
|
rs139349345
|
0.00003
|
NM_183235.3(RAB27A):c.*2334C>A
|
rs886051304
|
0.00003
|
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
|
rs539575657
|
0.00003
|
NM_183235.3(RAB27A):c.344-10A>G
|
rs199702031
|
0.00003
|
NM_198253.3(TERT):c.*104C>T
|
rs886059830
|
0.00003
|
NM_198253.3(TERT):c.834C>A (p.Pro278=)
|
rs375423906
|
0.00003
|
NM_198253.3(TERT):c.968C>G (p.Pro323Arg)
|
rs139342764
|
0.00003
|
NM_203447.4(DOCK8):c.*407C>T
|
rs886063983
|
0.00003
|
NM_203447.4(DOCK8):c.*847A>G
|
rs924532099
|
0.00003
|
NM_203447.4(DOCK8):c.1656A>G (p.Val552=)
|
rs150595667
|
0.00003
|
NM_203447.4(DOCK8):c.1817G>A (p.Ser606Asn)
|
rs778451048
|
0.00003
|
NM_203447.4(DOCK8):c.2438C>T (p.Thr813Ile)
|
rs762799448
|
0.00003
|
NM_203447.4(DOCK8):c.2719G>A (p.Asp907Asn)
|
rs756707690
|
0.00003
|
NM_203447.4(DOCK8):c.277G>T (p.Val93Leu)
|
rs375686155
|
0.00003
|
NM_203447.4(DOCK8):c.2937C>G (p.Val979=)
|
rs751748445
|
0.00003
|
NM_203447.4(DOCK8):c.3193C>T (p.Arg1065Trp)
|
rs146891937
|
0.00003
|
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)
|
rs763266087
|
0.00002
|
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys)
|
rs754772558
|
0.00002
|
NM_000037.4(ANK1):c.*117G>A
|
rs575900279
|
0.00002
|
NM_000037.4(ANK1):c.*1884G>A
|
rs1476190517
|
0.00002
|
NM_000037.4(ANK1):c.*411C>G
|
rs1361354647
|
0.00002
|
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met)
|
rs563833117
|
0.00002
|
NM_000037.4(ANK1):c.1563C>T (p.Ala521=)
|
rs762615459
|
0.00002
|
NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln)
|
rs577967149
|
0.00002
|
NM_000037.4(ANK1):c.1824C>T (p.Ile608=)
|
rs144904116
|
0.00002
|
NM_000037.4(ANK1):c.3532+10G>T
|
rs766646963
|
0.00002
|
NM_000037.4(ANK1):c.4104+12C>T
|
rs768356739
|
0.00002
|
NM_000037.4(ANK1):c.4183+4C>T
|
rs745597765
|
0.00002
|
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser)
|
rs746486928
|
0.00002
|
NM_000059.4(BRCA2):c.*545T>C
|
rs536333595
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
NM_000064.4(C3):c.1303G>A (p.Glu435Lys)
|
rs774826179
|
0.00002
|
NM_000064.4(C3):c.3411C>T (p.Asn1137=)
|
rs753019751
|
0.00002
|
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp)
|
rs1178318400
|
0.00002
|
NM_000081.4(LYST):c.2870T>C (p.Met957Thr)
|
rs201554916
|
0.00002
|
NM_000096.4(CP):c.164A>G (p.Tyr55Cys)
|
rs756029950
|
0.00002
|
NM_000096.4(CP):c.1907T>C (p.Met636Thr)
|
rs776909143
|
0.00002
|
NM_000096.4(CP):c.199T>C (p.Tyr67His)
|
rs201599525
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
0.00002
|
NM_000096.4(CP):c.259C>T (p.Pro87Ser)
|
rs749061188
|
0.00002
|
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)
|
rs749381794
|
0.00002
|
NM_000096.4(CP):c.936C>T (p.Asp312=)
|
rs373073229
|
0.00002
|
NM_000116.5(TAFAZZIN):c.*33G>A
|
rs782129745
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000128.4(F11):c.*1033A>G
|
rs886059305
|
0.00002
|
NM_000128.4(F11):c.-70G>A
|
rs755606015
|
0.00002
|
NM_000128.4(F11):c.1219A>G (p.Thr407Ala)
|
rs369822221
|
0.00002
|
NM_000128.4(F11):c.1842C>T (p.Tyr614=)
|
rs143588436
|
0.00002
|
NM_000128.4(F11):c.696T>C (p.His232=)
|
rs746382259
|
0.00002
|
NM_000129.4(F13A1):c.*627G>A
|
rs886061657
|
0.00002
|
NM_000130.5(F5):c.1321C>T (p.Arg441Cys)
|
rs747006175
|
0.00002
|
NM_000130.5(F5):c.281T>C (p.Val94Ala)
|
rs751093518
|
0.00002
|
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)
|
rs373880789
|
0.00002
|
NM_000130.5(F5):c.5729C>T (p.Pro1910Leu)
|
rs200805004
|
0.00002
|
NM_000132.4(F8):c.*1362A>T
|
rs1032816312
|
0.00002
|
NM_000132.4(F8):c.*915G>A
|
rs1259930797
|
0.00002
|
NM_000133.4(F9):c.*523A>G
|
rs921041074
|
0.00002
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
|
rs965036018
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)
|
rs1219627612
|
0.00002
|
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
|
rs145869646
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
NM_000136.3(FANCC):c.*1379C>G
|
rs55901384
|
0.00002
|
NM_000136.3(FANCC):c.*577G>A
|
rs1303539766
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_000195.5(HPS1):c.*577C>T
|
rs1455446444
|
0.00002
|
NM_000195.5(HPS1):c.1896C>T (p.Ser632=)
|
rs760508807
|
0.00002
|
NM_000204.5(CFI):c.1429G>C (p.Asp477His)
|
rs754972981
|
0.00002
|
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=)
|
rs754762370
|
0.00002
|
NM_000211.5(ITGB2):c.1784G>A (p.Arg595Gln)
|
rs750019280
|
0.00002
|
NM_000211.5(ITGB2):c.59-9G>A
|
rs141780263
|
0.00002
|
NM_000211.5(ITGB2):c.742-5C>G
|
rs542698586
|
0.00002
|
NM_000212.3(ITGB3):c.*439C>G
|
rs886053090
|
0.00002
|
NM_000212.3(ITGB3):c.*739C>T
|
rs756487158
|
0.00002
|
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys)
|
rs199866795
|
0.00002
|
NM_000222.3(KIT):c.1139C>T (p.Thr380Met)
|
rs760981584
|
0.00002
|
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)
|
rs199528011
|
0.00002
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
0.00002
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00002
|
NM_000298.6(PKLR):c.909G>C (p.Pro303=)
|
rs200840994
|
0.00002
|
NM_000312.4(PROC):c.*72C>A
|
rs546314105
|
0.00002
|
NM_000312.4(PROC):c.566G>A (p.Arg189Gln)
|
rs1270397879
|
0.00002
|
NM_000313.4(PROS1):c.*301A>G
|
rs569117154
|
0.00002
|
NM_000313.4(PROS1):c.1483A>G (p.Ile495Val)
|
rs745470312
|
0.00002
|
NM_000342.3(SLC4A1):c.-62G>A
|
rs387906565
|
0.00002
|
NM_000342.4(SLC4A1):c.*1766C>T
|
rs896817763
|
0.00002
|
NM_000342.4(SLC4A1):c.*351G>T
|
rs138242019
|
0.00002
|
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)
|
rs13306787
|
0.00002
|
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)
|
rs753357599
|
0.00002
|
NM_000342.4(SLC4A1):c.486-10C>T
|
rs376999476
|
0.00002
|
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)
|
rs772317162
|
0.00002
|
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys)
|
rs779054292
|
0.00002
|
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)
|
rs746406399
|
0.00002
|
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr)
|
rs754330583
|
0.00002
|
NM_000361.3(THBD):c.*1104A>C
|
rs926288174
|
0.00002
|
NM_000361.3(THBD):c.1528G>A (p.Val510Met)
|
rs555537779
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000373.4(UMPS):c.*1100C>T
|
rs756033821
|
0.00002
|
NM_000373.4(UMPS):c.*1128G>T
|
rs556684234
|
0.00002
|
NM_000373.4(UMPS):c.*3447T>C
|
rs764528076
|
0.00002
|
NM_000373.4(UMPS):c.*4638G>A
|
rs900083389
|
0.00002
|
NM_000373.4(UMPS):c.*691C>G
|
rs886057872
|
0.00002
|
NM_000373.4(UMPS):c.-19A>G
|
rs747117815
|
0.00002
|
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln)
|
rs201332523
|
0.00002
|
NM_000373.4(UMPS):c.1158G>A (p.Ala386=)
|
rs749629397
|
0.00002
|
NM_000373.4(UMPS):c.1290A>G (p.Gln430=)
|
rs17843847
|
0.00002
|
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter)
|
rs747405574
|
0.00002
|
NM_000375.3(UROS):c.*24A>G
|
rs760003189
|
0.00002
|
NM_000375.3(UROS):c.-134C>A
|
rs985442867
|
0.00002
|
NM_000375.3(UROS):c.691G>A (p.Ala231Thr)
|
rs780837512
|
0.00002
|
NM_000419.5(ITGA2B):c.3061-4C>T
|
rs530669664
|
0.00002
|
NM_000419.5(ITGA2B):c.574+10A>G
|
rs771984157
|
0.00002
|
NM_000433.4(NCF2):c.196C>A (p.Arg66=)
|
rs750782115
|
0.00002
|
NM_000506.5(F2):c.882C>T (p.Ala294=)
|
rs370819135
|
0.00002
|
NM_000519.4(HBD):c.*96G>T
|
rs1042760103
|
0.00002
|
NM_000552.5(VWF):c.7240G>A (p.Ala2414Thr)
|
rs754853953
|
0.00002
|
NM_000617.3(SLC11A2):c.*1360A>G
|
rs573581505
|
0.00002
|
NM_000617.3(SLC11A2):c.*420G>A
|
rs886049564
|
0.00002
|
NM_000617.3(SLC11A2):c.1049C>T (p.Ser350Leu)
|
rs376365060
|
0.00002
|
NM_000617.3(SLC11A2):c.921C>T (p.Ser307=)
|
rs762100462
|
0.00002
|
NM_000821.7(GGCX):c.*2774A>G
|
rs140009094
|
0.00002
|
NM_000821.7(GGCX):c.*4720G>A
|
rs1484208583
|
0.00002
|
NM_000821.7(GGCX):c.1224C>A (p.His408Gln)
|
rs763288483
|
0.00002
|
NM_000821.7(GGCX):c.1249G>A (p.Asp417Asn)
|
rs370517365
|
0.00002
|
NM_000821.7(GGCX):c.1815C>G (p.Asn605Lys)
|
rs1375142657
|
0.00002
|
NM_000821.7(GGCX):c.57A>T (p.Lys19Asn)
|
rs367575308
|
0.00002
|
NM_000975.5(RPL11):c.-14T>C
|
rs886046307
|
0.00002
|
NM_001001548.3(CD36):c.1045G>C (p.Ala349Pro)
|
rs370701210
|
0.00002
|
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter)
|
rs545489204
|
0.00002
|
NM_001001548.3(CD36):c.491A>G (p.Lys164Arg)
|
rs201801344
|
0.00002
|
NM_001014.5(RPS10):c.*25G>T
|
rs886061321
|
0.00002
|
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
|
rs943801800
|
0.00002
|
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)
|
rs761492600
|
0.00002
|
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val)
|
rs768105189
|
0.00002
|
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met)
|
rs764775864
|
0.00002
|
NM_001040436.2(YARS2):c.-72C>G
|
rs552674058
|
0.00002
|
NM_001063.4(TF):c.502+12G>A
|
rs201033555
|
0.00002
|
NM_001063.4(TF):c.828C>T (p.Gly276=)
|
rs769998552
|
0.00002
|
NM_001081.4(CUBN):c.*564G>C
|
rs184284227
|
0.00002
|
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
|
rs768104200
|
0.00002
|
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala)
|
rs886046875
|
0.00002
|
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
|
rs1025505410
|
0.00002
|
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val)
|
rs751110627
|
0.00002
|
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
|
rs371508247
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
|
rs576557890
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys)
|
rs747786939
|
0.00002
|
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
|
rs200808196
|
0.00002
|
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
|
rs544783535
|
0.00002
|
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)
|
rs201871288
|
0.00002
|
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)
|
rs369268726
|
0.00002
|
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile)
|
rs200007022
|
0.00002
|
NM_001113378.2(FANCI):c.1890+10A>G
|
rs201954421
|
0.00002
|
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys)
|
rs200907824
|
0.00002
|
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
|
rs562503186
|
0.00002
|
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
|
rs746204528
|
0.00002
|
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)
|
rs769485443
|
0.00002
|
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)
|
rs574359460
|
0.00002
|
NM_001114134.2(EPB42):c.346C>T (p.His116Tyr)
|
rs886051169
|
0.00002
|
NM_001114636.1(FANCL):c.-13C>T
|
rs757714548
|
0.00002
|
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)
|
rs758499704
|
0.00002
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
0.00002
|
NM_001374504.1(TMPRSS6):c.*140C>T
|
rs886057491
|
0.00002
|
NM_001374504.1(TMPRSS6):c.*24G>A
|
rs182366825
|
0.00002
|
NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=)
|
rs546574834
|
0.00002
|
NM_001374504.1(TMPRSS6):c.1762C>T (p.Arg588Trp)
|
rs773272073
|
0.00002
|
NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His)
|
rs371794539
|
0.00002
|
NM_001374504.1(TMPRSS6):c.2250+7C>A
|
rs763966214
|
0.00002
|
NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp)
|
rs754848810
|
0.00002
|
NM_001375808.2(LPIN2):c.*1157T>C
|
rs1240536600
|
0.00002
|
NM_001375808.2(LPIN2):c.*2710A>G
|
rs760097342
|
0.00002
|
NM_001375808.2(LPIN2):c.*823G>A
|
rs747730329
|
0.00002
|
NM_001375808.2(LPIN2):c.1247C>T (p.Ala416Val)
|
rs777239535
|
0.00002
|
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg)
|
rs759706918
|
0.00002
|
NM_001430.5(EPAS1):c.*898C>T
|
rs577130920
|
0.00002
|
NM_001430.5(EPAS1):c.*90C>T
|
rs151042657
|
0.00002
|
NM_001430.5(EPAS1):c.-92G>A
|
rs957930899
|
0.00002
|
NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=)
|
rs947956425
|
0.00002
|
NM_001430.5(EPAS1):c.1960G>A (p.Val654Ile)
|
rs375135104
|
0.00002
|
NM_001710.6(CFB):c.1290C>T (p.Val430=)
|
rs201619743
|
0.00002
|
NM_001754.5(RUNX1):c.*2822C>T
|
rs867689771
|
0.00002
|
NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys)
|
rs878854468
|
0.00002
|
NM_001770.6(CD19):c.*65A>G
|
rs547923710
|
0.00002
|
NM_001770.6(CD19):c.788G>A (p.Arg263His)
|
rs146126284
|
0.00002
|
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)
|
rs748729285
|
0.00002
|
NM_001994.3(F13B):c.1098C>T (p.Ser366=)
|
rs771474972
|
0.00002
|
NM_001994.3(F13B):c.877C>T (p.Arg293Cys)
|
rs780257236
|
0.00002
|
NM_002203.4(ITGA2):c.*1365G>A
|
rs910292856
|
0.00002
|
NM_002203.4(ITGA2):c.573A>G (p.Val191=)
|
rs190131248
|
0.00002
|
NM_002473.6(MYH9):c.4728G>A (p.Arg1576=)
|
rs756867174
|
0.00002
|
NM_003126.4(SPTA1):c.1981C>T (p.Arg661Cys)
|
rs747716571
|
0.00002
|
NM_003126.4(SPTA1):c.5566-10A>G
|
rs140863916
|
0.00002
|
NM_003126.4(SPTA1):c.6843-8T>C
|
rs766464890
|
0.00002
|
NM_004629.2(FANCG):c.*141A>G
|
rs1323568562
|
0.00002
|
NM_004629.2(FANCG):c.1155C>T (p.Pro385=)
|
rs1217203217
|
0.00002
|
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly)
|
rs200074432
|
0.00002
|
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
|
rs745833004
|
0.00002
|
NM_005141.5(FGB):c.*464C>T
|
rs940820346
|
0.00002
|
NM_005141.5(FGB):c.*526C>T
|
rs933339992
|
0.00002
|
NM_005141.5(FGB):c.251A>C (p.Lys84Thr)
|
rs886059141
|
0.00002
|
NM_005373.3(MPL):c.*255C>T
|
rs1218431899
|
0.00002
|
NM_005373.3(MPL):c.*901G>A
|
rs1267506501
|
0.00002
|
NM_005476.7(GNE):c.*2431A>G
|
rs917794045
|
0.00002
|
NM_005476.7(GNE):c.*2766T>C
|
rs886063916
|
0.00002
|
NM_005570.4(LMAN1):c.*1970T>G
|
rs886054034
|
0.00002
|
NM_005570.4(LMAN1):c.1434G>A (p.Thr478=)
|
rs748522800
|
0.00002
|
NM_006206.6(PDGFRA):c.*136G>A
|
rs886059450
|
0.00002
|
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)
|
rs190260215
|
0.00002
|
NM_006363.6(SEC23B):c.2143A>G (p.Ser715Gly)
|
rs777442287
|
0.00002
|
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro)
|
rs775502935
|
0.00002
|
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=)
|
rs773053071
|
0.00002
|
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter)
|
rs766978225
|
0.00002
|
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe)
|
rs759053532
|
0.00002
|
NM_006947.4(SRP72):c.*1478C>A
|
rs1405583789
|
0.00002
|
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)
|
rs1185247120
|
0.00002
|
NM_006996.3(SLC19A2):c.30G>A (p.Arg10=)
|
rs928593954
|
0.00002
|
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=)
|
rs945252214
|
0.00002
|
NM_012092.4(ICOS):c.*594C>T
|
rs1391651175
|
0.00002
|
NM_012092.4(ICOS):c.*73T>C
|
rs756570847
|
0.00002
|
NM_015175.3(NBEAL2):c.*225G>T
|
rs929264011
|
0.00002
|
NM_015175.3(NBEAL2):c.*375T>G
|
rs1054994315
|
0.00002
|
NM_015175.3(NBEAL2):c.1344C>T (p.Asn448=)
|
rs763174968
|
0.00002
|
NM_015175.3(NBEAL2):c.165C>T (p.Val55=)
|
rs771661814
|
0.00002
|
NM_015175.3(NBEAL2):c.1687C>T (p.Arg563Cys)
|
rs527658542
|
0.00002
|
NM_015175.3(NBEAL2):c.1736G>A (p.Arg579His)
|
rs768701328
|
0.00002
|
NM_015175.3(NBEAL2):c.3087C>T (p.Leu1029=)
|
rs373998295
|
0.00002
|
NM_015175.3(NBEAL2):c.3108C>T (p.Ala1036=)
|
rs886058596
|
0.00002
|
NM_015175.3(NBEAL2):c.3529G>A (p.Asp1177Asn)
|
rs746255435
|
0.00002
|
NM_015175.3(NBEAL2):c.4532C>T (p.Ala1511Val)
|
rs886058600
|
0.00002
|
NM_015175.3(NBEAL2):c.6409G>A (p.Val2137Met)
|
rs377051387
|
0.00002
|
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
|
rs760971849
|
0.00002
|
NM_015702.3(MMADHC):c.697-3C>T
|
rs770272562
|
0.00002
|
NM_015702.3(MMADHC):c.800A>G (p.His267Arg)
|
rs753424109
|
0.00002
|
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)
|
rs143865753
|
0.00002
|
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=)
|
rs763845960
|
0.00002
|
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
NM_018062.4(FANCL):c.969G>A (p.Val323=)
|
rs200819615
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_018389.5(SLC35C1):c.*561C>T
|
rs934108329
|
0.00002
|
NM_018389.5(SLC35C1):c.-218G>C
|
rs564660234
|
0.00002
|
NM_018389.5(SLC35C1):c.-481G>A
|
rs886048310
|
0.00002
|
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)
|
rs768517924
|
0.00002
|
NM_019616.4(F7):c.*985G>A
|
rs1368575987
|
0.00002
|
NM_019616.4(F7):c.929C>T (p.Thr310Met)
|
rs200212201
|
0.00002
|
NM_019616.4(F7):c.940G>A (p.Val314Met)
|
rs374305125
|
0.00002
|
NM_020661.4(AICDA):c.376C>T (p.Leu126=)
|
rs999930122
|
0.00002
|
NM_020661.4(AICDA):c.569G>A (p.Arg190Gln)
|
rs747680644
|
0.00002
|
NM_021870.3(FGG):c.683T>C (p.Val228Ala)
|
rs757702704
|
0.00002
|
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala)
|
rs199571440
|
0.00002
|
NM_021871.4(FGA):c.450G>A (p.Gln150=)
|
rs368446857
|
0.00002
|
NM_021922.3(FANCE):c.*213T>A
|
rs532782953
|
0.00002
|
NM_021922.3(FANCE):c.*322C>T
|
rs559999264
|
0.00002
|
NM_022051.3(EGLN1):c.*2577G>C
|
rs886046095
|
0.00002
|
NM_022051.3(EGLN1):c.*434T>G
|
rs974916553
|
0.00002
|
NM_022051.3(EGLN1):c.*841C>T
|
rs1042628099
|
0.00002
|
NM_022051.3(EGLN1):c.-111G>A
|
rs886046113
|
0.00002
|
NM_022051.3(EGLN1):c.-46C>T
|
rs899734016
|
0.00002
|
NM_022051.3(EGLN1):c.522C>T (p.Ser174=)
|
rs767045832
|
0.00002
|
NM_022081.6(HPS4):c.*1256C>T
|
rs886057299
|
0.00002
|
NM_022081.6(HPS4):c.*1691G>A
|
rs1405392401
|
0.00002
|
NM_022081.6(HPS4):c.*228A>C
|
rs182700538
|
0.00002
|
NM_022081.6(HPS4):c.1455G>A (p.Thr485=)
|
rs756215705
|
0.00002
|
NM_022081.6(HPS4):c.1641C>T (p.Cys547=)
|
rs199740072
|
0.00002
|
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr)
|
rs549798245
|
0.00002
|
NM_022081.6(HPS4):c.877C>G (p.Leu293Val)
|
rs886057317
|
0.00002
|
NM_022725.4(FANCF):c.*555T>C
|
rs1306529494
|
0.00002
|
NM_022725.4(FANCF):c.279C>T (p.Leu93=)
|
rs199578614
|
0.00002
|
NM_024006.6(VKORC1):c.-2T>C
|
rs745707367
|
0.00002
|
NM_024006.6(VKORC1):c.379G>A (p.Val127Met)
|
rs777707816
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
0.00002
|
NM_024747.6(HPS6):c.2045G>A (p.Arg682His)
|
rs778873202
|
0.00002
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
NM_025215.6(PUS1):c.683C>T (p.Thr228Met)
|
rs755448329
|
0.00002
|
NM_025215.6(PUS1):c.841G>A (p.Val281Met)
|
rs776626629
|
0.00002
|
NM_032043.3(BRIP1):c.*1330C>T
|
rs933049932
|
0.00002
|
NM_032043.3(BRIP1):c.*3000C>G
|
rs1373033399
|
0.00002
|
NM_032043.3(BRIP1):c.*3307T>C
|
rs886053199
|
0.00002
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
NM_032383.5(HPS3):c.1125G>A (p.Gln375=)
|
rs367816094
|
0.00002
|
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile)
|
rs749726836
|
0.00002
|
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys)
|
rs775762509
|
0.00002
|
NM_032383.5(HPS3):c.1509+5T>C
|
rs200117898
|
0.00002
|
NM_032444.4(SLX4):c.-305C>T
|
rs886051983
|
0.00002
|
NM_032444.4(SLX4):c.-580T>C
|
rs886051985
|
0.00002
|
NM_032444.4(SLX4):c.151T>C (p.Phe51Leu)
|
rs769694224
|
0.00002
|
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
|
rs749399683
|
0.00002
|
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met)
|
rs754761366
|
0.00002
|
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr)
|
rs763524714
|
0.00002
|
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser)
|
rs372321470
|
0.00002
|
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)
|
rs370775954
|
0.00002
|
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg)
|
rs765960272
|
0.00002
|
NM_032444.4(SLX4):c.752C>T (p.Ala251Val)
|
rs201117707
|
0.00002
|
NM_080669.6(SLC46A1):c.*1298G>A
|
rs139970165
|
0.00002
|
NM_080669.6(SLC46A1):c.*3661T>C
|
rs782774927
|
0.00002
|
NM_080669.6(SLC46A1):c.-8G>A
|
rs782192529
|
0.00002
|
NM_080911.3(UNG):c.769T>C (p.Tyr257His)
|
rs769188214
|
0.00002
|
NM_138387.4(G6PC3):c.-155T>A
|
rs756204705
|
0.00002
|
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)
|
rs375273894
|
0.00002
|
NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln)
|
rs766537047
|
0.00002
|
NM_138477.4(CDAN1):c.2007+11G>A
|
rs758515470
|
0.00002
|
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp)
|
rs142276684
|
0.00002
|
NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile)
|
rs771780683
|
0.00002
|
NM_138477.4(CDAN1):c.701G>A (p.Ser234Asn)
|
rs755238710
|
0.00002
|
NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=)
|
rs782239711
|
0.00002
|
NM_139027.6(ADAMTS13):c.15C>T (p.His5=)
|
rs77985067
|
0.00002
|
NM_139027.6(ADAMTS13):c.1706-3T>A
|
rs781888317
|
0.00002
|
NM_139027.6(ADAMTS13):c.3044+8A>C
|
rs886063636
|
0.00002
|
NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile)
|
rs369026148
|
0.00002
|
NM_139027.6(ADAMTS13):c.715G>A (p.Gly239Ser)
|
rs1554785883
|
0.00002
|
NM_139279.6(MCFD2):c.*1289T>C
|
rs527427772
|
0.00002
|
NM_139279.6(MCFD2):c.*1354G>T
|
rs886056112
|
0.00002
|
NM_139279.6(MCFD2):c.*2169G>A
|
rs79487300
|
0.00002
|
NM_139279.6(MCFD2):c.*428G>A
|
rs781195000
|
0.00002
|
NM_139279.6(MCFD2):c.*640C>T
|
rs534106665
|
0.00002
|
NM_139279.6(MCFD2):c.*991G>A
|
rs1259504368
|
0.00002
|
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp)
|
rs560723051
|
0.00002
|
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=)
|
rs199868590
|
0.00002
|
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=)
|
rs775071483
|
0.00002
|
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala)
|
rs752808333
|
0.00002
|
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln)
|
rs138148013
|
0.00002
|
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His)
|
rs398124338
|
0.00002
|
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys)
|
rs753075331
|
0.00002
|
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln)
|
rs777528760
|
0.00002
|
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu)
|
rs146883974
|
0.00002
|
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg)
|
rs772658121
|
0.00002
|
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)
|
rs775601813
|
0.00002
|
NM_172351.3(CD46):c.*1211C>T
|
rs1248620643
|
0.00002
|
NM_172351.3(CD46):c.*672A>T
|
rs1430844015
|
0.00002
|
NM_172351.3(CD46):c.-127A>G
|
rs1023894625
|
0.00002
|
NM_173842.3(IL1RN):c.*303C>G
|
rs766555019
|
0.00002
|
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)
|
rs763872895
|
0.00002
|
NM_181507.2(HPS5):c.1076G>A (p.Arg359His)
|
rs774619545
|
0.00002
|
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)
|
rs747733616
|
0.00002
|
NM_183235.3(RAB27A):c.*2135C>A
|
rs1025029271
|
0.00002
|
NM_198253.3(TERT):c.*64G>A
|
rs1327773385
|
0.00002
|
NM_198253.3(TERT):c.2886C>T (p.Arg962=)
|
rs542440625
|
0.00002
|
NM_203447.4(DOCK8):c.*150A>T
|
rs886063981
|
0.00002
|
NM_203447.4(DOCK8):c.*344A>G
|
rs1409715154
|
0.00002
|
NM_203447.4(DOCK8):c.2593G>A (p.Val865Met)
|
rs770643758
|
0.00002
|
NM_203447.4(DOCK8):c.2946T>C (p.Tyr982=)
|
rs762327114
|
0.00002
|
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser)
|
rs527474230
|
0.00002
|
NM_203447.4(DOCK8):c.3270T>C (p.Ile1090=)
|
rs377297446
|
0.00002
|
NM_203447.4(DOCK8):c.4148C>G (p.Ala1383Gly)
|
rs745583957
|
0.00002
|
NM_203447.4(DOCK8):c.5408A>C (p.Lys1803Thr)
|
rs534744136
|
0.00002
|
NM_203447.4(DOCK8):c.578C>G (p.Pro193Arg)
|
rs971992611
|
0.00002
|
NM_000032.5(ALAS2):c.110G>A (p.Arg37His)
|
rs756790340
|
0.00001
|
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=)
|
rs765603040
|
0.00001
|
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)
|
rs772107960
|
0.00001
|
NM_000037.4(ANK1):c.*1074A>G
|
rs886062933
|
0.00001
|
NM_000037.4(ANK1):c.*1120T>C
|
rs977041324
|
0.00001
|
NM_000037.4(ANK1):c.*2342C>G
|
rs886062929
|
0.00001
|
NM_000037.4(ANK1):c.*48G>A
|
rs752874877
|
0.00001
|
NM_000037.4(ANK1):c.*866C>G
|
rs1160580288
|
0.00001
|
NM_000037.4(ANK1):c.-33G>A
|
rs776534102
|
0.00001
|
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser)
|
rs779654741
|
0.00001
|
NM_000037.4(ANK1):c.1230G>C (p.Val410=)
|
rs184006495
|
0.00001
|
NM_000037.4(ANK1):c.1350G>A (p.Thr450=)
|
rs769803878
|
0.00001
|
NM_000037.4(ANK1):c.2197-9A>G
|
rs758665687
|
0.00001
|
NM_000037.4(ANK1):c.3469G>A (p.Asp1157Asn)
|
rs747027965
|
0.00001
|
NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln)
|
rs758602146
|
0.00001
|
NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr)
|
rs765958291
|
0.00001
|
NM_000037.4(ANK1):c.384G>A (p.Lys128=)
|
rs758750884
|
0.00001
|
NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val)
|
rs886062939
|
0.00001
|
NM_000037.4(ANK1):c.4365C>T (p.Val1455=)
|
rs748684817
|
0.00001
|
NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met)
|
rs200662932
|
0.00001
|
NM_000037.4(ANK1):c.5289A>G (p.Thr1763=)
|
rs761133472
|
0.00001
|
NM_000037.4(ANK1):c.5448G>A (p.Thr1816=)
|
rs146637140
|
0.00001
|
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys)
|
rs886062942
|
0.00001
|
NM_000037.4(ANK1):c.660C>T (p.Asn220=)
|
rs773555671
|
0.00001
|
NM_000037.4(ANK1):c.711+13C>T
|
rs763737257
|
0.00001
|
NM_000037.4(ANK1):c.722C>T (p.Thr241Met)
|
rs761960519
|
0.00001
|
NM_000037.4(ANK1):c.801C>T (p.Thr267=)
|
rs780194667
|
0.00001
|
NM_000057.4(BLM):c.-59T>A
|
rs1438250598
|
0.00001
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr)
|
rs372013507
|
0.00001
|
NM_000057.4(BLM):c.2744C>T (p.Ala915Val)
|
rs775026151
|
0.00001
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
NM_000057.4(BLM):c.98+6T>G
|
rs886051550
|
0.00001
|
NM_000059.4(BRCA2):c.*271C>A
|
rs868342410
|
0.00001
|
NM_000059.4(BRCA2):c.*50A>G
|
rs761312704
|
0.00001
|
NM_000059.4(BRCA2):c.-40+7G>T
|
rs1555279969
|
0.00001
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)
|
rs776655838
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)
|
rs398122547
|
0.00001
|
NM_000059.4(BRCA2):c.628A>G (p.Ile210Val)
|
rs1555281106
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly)
|
rs80358895
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=)
|
rs764698623
|
0.00001
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
NM_000059.4(BRCA2):c.963A>G (p.Gln321=)
|
rs276174927
|
0.00001
|
NM_000061.3(BTK):c.100G>A (p.Val34Met)
|
rs141488935
|
0.00001
|
NM_000061.3(BTK):c.852A>G (p.Lys284=)
|
rs1057515724
|
0.00001
|
NM_000064.4(C3):c.1767C>T (p.His589=)
|
rs775843240
|
0.00001
|
NM_000064.4(C3):c.2403G>A (p.Thr801=)
|
rs886054654
|
0.00001
|
NM_000064.4(C3):c.2441-6G>A
|
rs752216964
|
0.00001
|
NM_000064.4(C3):c.2450T>A (p.Val817Glu)
|
rs886054653
|
0.00001
|
NM_000064.4(C3):c.2646C>T (p.His882=)
|
rs377316231
|
0.00001
|
NM_000064.4(C3):c.2793C>T (p.Val931=)
|
rs781226831
|
0.00001
|
NM_000064.4(C3):c.3970-15C>G
|
rs1233140401
|
0.00001
|
NM_000064.4(C3):c.4121-4C>T
|
rs747452882
|
0.00001
|
NM_000064.4(C3):c.443G>A (p.Arg148Gln)
|
rs886054657
|
0.00001
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile)
|
rs202010795
|
0.00001
|
NM_000096.4(CP):c.*343A>G
|
rs886058085
|
0.00001
|
NM_000096.4(CP):c.1037-3C>A
|
rs754289834
|
0.00001
|
NM_000096.4(CP):c.125A>G (p.Lys42Arg)
|
rs886058090
|
0.00001
|
NM_000096.4(CP):c.1309A>G (p.Lys437Glu)
|
rs764238637
|
0.00001
|
NM_000096.4(CP):c.1379C>T (p.Thr460Ile)
|
rs370863732
|
0.00001
|
NM_000096.4(CP):c.1380C>T (p.Thr460=)
|
rs149790356
|
0.00001
|
NM_000096.4(CP):c.1478C>T (p.Pro493Leu)
|
rs1391447500
|
0.00001
|
NM_000096.4(CP):c.1713+3A>G
|
rs372361874
|
0.00001
|
NM_000096.4(CP):c.2180T>C (p.Phe727Ser)
|
rs886058087
|
0.00001
|
NM_000096.4(CP):c.2266C>A (p.His756Asn)
|
rs773420516
|
0.00001
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
0.00001
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
NM_000121.4(EPOR):c.-68G>A
|
rs886054194
|
0.00001
|
NM_000121.4(EPOR):c.116-10C>T
|
rs1232303475
|
0.00001
|
NM_000121.4(EPOR):c.13G>A (p.Gly5Arg)
|
rs781761386
|
0.00001
|
NM_000121.4(EPOR):c.1467T>C (p.Tyr489=)
|
rs770608744
|
0.00001
|
NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)
|
rs776887278
|
0.00001
|
NM_000121.4(EPOR):c.861G>A (p.Pro287=)
|
rs369085901
|
0.00001
|
NM_000121.4(EPOR):c.980C>T (p.Pro327Leu)
|
rs776698147
|
0.00001
|
NM_000128.3(F11):c.-326C>G
|
rs753031984
|
0.00001
|
NM_000128.4(F11):c.*448A>G
|
rs368132203
|
0.00001
|
NM_000128.4(F11):c.*763T>A
|
rs576164426
|
0.00001
|
NM_000128.4(F11):c.*817A>G
|
rs1441037997
|
0.00001
|
NM_000128.4(F11):c.*846T>C
|
rs988525367
|
0.00001
|
NM_000128.4(F11):c.1416T>C (p.Tyr472=)
|
rs1053472547
|
0.00001
|
NM_000128.4(F11):c.499C>T (p.Leu167=)
|
rs374761594
|
0.00001
|
NM_000129.4(F13A1):c.*606T>C
|
rs148907610
|
0.00001
|
NM_000129.4(F13A1):c.-28G>A
|
rs886061662
|
0.00001
|
NM_000129.4(F13A1):c.2067C>T (p.Thr689=)
|
rs750971578
|
0.00001
|
NM_000129.4(F13A1):c.889G>A (p.Val297Ile)
|
rs199564311
|
0.00001
|
NM_000130.5(F5):c.*1043T>A
|
rs991084730
|
0.00001
|
NM_000130.5(F5):c.*1613A>G
|
rs939304311
|
0.00001
|
NM_000130.5(F5):c.*390C>T
|
rs886045538
|
0.00001
|
NM_000130.5(F5):c.*872C>T
|
rs922113998
|
0.00001
|
NM_000130.5(F5):c.1545C>T (p.Ile515=)
|
rs886045551
|
0.00001
|
NM_000130.5(F5):c.1659G>A (p.Glu553=)
|
rs370739570
|
0.00001
|
NM_000130.5(F5):c.276T>G (p.Ala92=)
|
rs769639191
|
0.00001
|
NM_000130.5(F5):c.3255A>C (p.Thr1085=)
|
rs6006
|
0.00001
|
NM_000130.5(F5):c.3810C>G (p.Ala1270=)
|
rs781657137
|
0.00001
|
NM_000130.5(F5):c.5001G>A (p.Pro1667=)
|
rs747456938
|
0.00001
|
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln)
|
rs886045544
|
0.00001
|
NM_000130.5(F5):c.538G>A (p.Glu180Lys)
|
rs143152035
|
0.00001
|
NM_000130.5(F5):c.5788+4A>T
|
rs759428783
|
0.00001
|
NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)
|
rs768425862
|
0.00001
|
NM_000130.5(F5):c.6164G>A (p.Arg2055Gln)
|
rs886045542
|
0.00001
|
NM_000130.5(F5):c.6298C>T (p.Arg2100Cys)
|
rs775843029
|
0.00001
|
NM_000130.5(F5):c.6360G>A (p.Lys2120=)
|
rs757104503
|
0.00001
|
NM_000130.5(F5):c.6459T>C (p.Tyr2153=)
|
rs773618429
|
0.00001
|
NM_000130.5(F5):c.936C>T (p.Thr312=)
|
rs758832130
|
0.00001
|
NM_000132.4(F8):c.*975A>G
|
rs892955433
|
0.00001
|
NM_000132.4(F8):c.-157A>G
|
rs1057515826
|
0.00001
|
NM_000132.4(F8):c.1173C>T (p.Arg391=)
|
rs1411642179
|
0.00001
|
NM_000132.4(F8):c.1587A>G (p.Lys529=)
|
rs1369480074
|
0.00001
|
NM_000132.4(F8):c.4411A>G (p.Met1471Val)
|
rs782058716
|
0.00001
|
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu)
|
rs782235155
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000132.4(F8):c.978A>G (p.Leu326=)
|
rs782374508
|
0.00001
|
NM_000133.4(F9):c.*1283C>G
|
rs1295265700
|
0.00001
|
NM_000133.4(F9):c.*197G>A
|
rs1057515798
|
0.00001
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
NM_000135.4(FANCA):c.*625C>T
|
rs779094661
|
0.00001
|
NM_000135.4(FANCA):c.*851G>A
|
rs886052478
|
0.00001
|
NM_000135.4(FANCA):c.-28C>G
|
rs886052490
|
0.00001
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
|
rs751071791
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
|
rs1032990637
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)
|
rs886052485
|
0.00001
|
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
|
rs536086288
|
0.00001
|
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)
|
rs886052484
|
0.00001
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)
|
rs1555581729
|
0.00001
|
NM_000135.4(FANCA):c.4010+12C>T
|
rs1445940471
|
0.00001
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
|
rs749380996
|
0.00001
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
NM_000136.3(FANCC):c.*1045C>T
|
rs537983135
|
0.00001
|
NM_000136.3(FANCC):c.*143A>G
|
rs189154697
|
0.00001
|
NM_000136.3(FANCC):c.*1976C>T
|
rs752733985
|
0.00001
|
NM_000136.3(FANCC):c.*2128C>T
|
rs567507884
|
0.00001
|
NM_000136.3(FANCC):c.*2402G>C
|
rs1354689137
|
0.00001
|
NM_000136.3(FANCC):c.*2528A>G
|
rs1057515696
|
0.00001
|
NM_000136.3(FANCC):c.*576C>T
|
rs1057515701
|
0.00001
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)
|
rs730881711
|
0.00001
|
NM_000136.3(FANCC):c.542C>T (p.Ala181Val)
|
rs182879858
|
0.00001
|
NM_000174.5(GP9):c.501C>G (p.Gly167=)
|
rs886057964
|
0.00001
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000195.5(HPS1):c.*1235G>A
|
rs886046584
|
0.00001
|
NM_000195.5(HPS1):c.*451C>G
|
rs1185107542
|
0.00001
|
NM_000195.5(HPS1):c.*635T>C
|
rs886046588
|
0.00001
|
NM_000195.5(HPS1):c.*639G>T
|
rs1025107350
|
0.00001
|
NM_000195.5(HPS1):c.*968G>A
|
rs972778777
|
0.00001
|
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp)
|
rs755120094
|
0.00001
|
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=)
|
rs764612179
|
0.00001
|
NM_000195.5(HPS1):c.2037G>A (p.Leu679=)
|
rs773611107
|
0.00001
|
NM_000195.5(HPS1):c.2058G>C (p.Gln686His)
|
rs780183454
|
0.00001
|
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg)
|
rs771121322
|
0.00001
|
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp)
|
rs757374077
|
0.00001
|
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln)
|
rs746626404
|
0.00001
|
NM_000204.5(CFI):c.1112G>T (p.Gly371Val)
|
rs763931500
|
0.00001
|
NM_000204.5(CFI):c.1429+5A>G
|
rs771786368
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_000204.5(CFI):c.209A>C (p.Asn70Thr)
|
rs749553820
|
0.00001
|
NM_000204.5(CFI):c.424A>C (p.Lys142Gln)
|
rs762431670
|
0.00001
|
NM_000204.5(CFI):c.781G>A (p.Gly261Ser)
|
rs547901965
|
0.00001
|
NM_000211.5(ITGB2):c.116C>T (p.Ser39Leu)
|
rs368899902
|
0.00001
|
NM_000211.5(ITGB2):c.1195G>C (p.Asp399His)
|
rs1381775363
|
0.00001
|
NM_000211.5(ITGB2):c.1225-10T>A
|
rs886057118
|
0.00001
|
NM_000211.5(ITGB2):c.1630T>C (p.Tyr544His)
|
rs201703437
|
0.00001
|
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His)
|
rs550704811
|
0.00001
|
NM_000211.5(ITGB2):c.2247+10C>T
|
rs147248229
|
0.00001
|
NM_000211.5(ITGB2):c.253G>A (p.Ala85Thr)
|
rs548099370
|
0.00001
|
NM_000211.5(ITGB2):c.328+14C>T
|
rs780089604
|
0.00001
|
NM_000211.5(ITGB2):c.432G>A (p.Arg144=)
|
rs886057119
|
0.00001
|
NM_000211.5(ITGB2):c.528G>C (p.Val176=)
|
rs200639854
|
0.00001
|
NM_000212.3(ITGB3):c.*1585A>C
|
rs917780047
|
0.00001
|
NM_000212.3(ITGB3):c.*2263T>C
|
rs1291399916
|
0.00001
|
NM_000212.3(ITGB3):c.1157G>A (p.Arg386His)
|
rs1231109822
|
0.00001
|
NM_000212.3(ITGB3):c.1260+11C>T
|
rs752250845
|
0.00001
|
NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile)
|
rs750612657
|
0.00001
|
NM_000212.3(ITGB3):c.1605C>T (p.His535=)
|
rs757985563
|
0.00001
|
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser)
|
rs781502355
|
0.00001
|
NM_000212.3(ITGB3):c.19C>T (p.Pro7Ser)
|
rs995924582
|
0.00001
|
NM_000212.3(ITGB3):c.201G>A (p.Lys67=)
|
rs780479441
|
0.00001
|
NM_000212.3(ITGB3):c.261C>G (p.Ala87=)
|
rs747991001
|
0.00001
|
NM_000212.3(ITGB3):c.889G>A (p.Gly297Arg)
|
rs756088530
|
0.00001
|
NM_000222.3(KIT):c.*1190A>G
|
rs1016796314
|
0.00001
|
NM_000222.3(KIT):c.*2041A>G
|
rs922217138
|
0.00001
|
NM_000222.3(KIT):c.*368C>T
|
rs886059465
|
0.00001
|
NM_000222.3(KIT):c.*393A>G
|
rs886059466
|
0.00001
|
NM_000222.3(KIT):c.*575A>G
|
rs950845391
|
0.00001
|
NM_000222.3(KIT):c.1274T>A (p.Met425Lys)
|
rs878853760
|
0.00001
|
NM_000222.3(KIT):c.1618G>C (p.Val540Leu)
|
rs756179543
|
0.00001
|
NM_000222.3(KIT):c.1889A>G (p.His630Arg)
|
rs373554876
|
0.00001
|
NM_000222.3(KIT):c.2118T>G (p.Leu706=)
|
rs766840704
|
0.00001
|
NM_000222.3(KIT):c.2562C>G (p.Ser854=)
|
rs750039813
|
0.00001
|
NM_000222.3(KIT):c.2670C>T (p.Leu890=)
|
rs745967881
|
0.00001
|
NM_000222.3(KIT):c.301C>T (p.His101Tyr)
|
rs781130745
|
0.00001
|
NM_000253.4(MTTP):c.-205G>A
|
rs886058953
|
0.00001
|
NM_000289.6(PFKM):c.*532A>G
|
rs927525907
|
0.00001
|
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)
|
rs762357629
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
|
rs1225653591
|
0.00001
|
NM_000298.6(PKLR):c.*1277G>A
|
rs917244300
|
0.00001
|
NM_000298.6(PKLR):c.*275C>T
|
rs886045350
|
0.00001
|
NM_000298.6(PKLR):c.*779C>A
|
rs886045348
|
0.00001
|
NM_000298.6(PKLR):c.-31G>A
|
rs778164541
|
0.00001
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
|
rs763466930
|
0.00001
|
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
NM_000312.4(PROC):c.-55C>T
|
rs886054845
|
0.00001
|
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser)
|
rs768759265
|
0.00001
|
NM_000312.4(PROC):c.1326C>T (p.Leu442=)
|
rs748650244
|
0.00001
|
NM_000312.4(PROC):c.400+5G>C
|
rs199469478
|
0.00001
|
NM_000312.4(PROC):c.602C>T (p.Thr201Ile)
|
rs886054847
|
0.00001
|
NM_000312.4(PROC):c.629C>T (p.Pro210Leu)
|
rs121918145
|
0.00001
|
NM_000312.4(PROC):c.660G>A (p.Arg220=)
|
rs1688487502
|
0.00001
|
NM_000312.4(PROC):c.70+13C>G
|
rs200660332
|
0.00001
|
NM_000312.4(PROC):c.888C>T (p.Thr296=)
|
rs759229398
|
0.00001
|
NM_000313.3(PROS1):c.-167G>T
|
rs983179502
|
0.00001
|
NM_000313.4(PROS1):c.*385A>G
|
rs1576170245
|
0.00001
|
NM_000313.4(PROS1):c.1457C>G (p.Pro486Arg)
|
rs1350149739
|
0.00001
|
NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys)
|
rs1263937066
|
0.00001
|
NM_000313.4(PROS1):c.1752G>A (p.Leu584=)
|
rs772250170
|
0.00001
|
NM_000313.4(PROS1):c.311C>A (p.Thr104Asn)
|
rs753950548
|
0.00001
|
NM_000313.4(PROS1):c.346+15C>T
|
rs1265949362
|
0.00001
|
NM_000313.4(PROS1):c.601+12A>G
|
rs753550053
|
0.00001
|
NM_000342.4(SLC4A1):c.*1832G>A
|
rs886052988
|
0.00001
|
NM_000342.4(SLC4A1):c.*356G>C
|
rs1046413791
|
0.00001
|
NM_000342.4(SLC4A1):c.*5C>T
|
rs748428663
|
0.00001
|
NM_000342.4(SLC4A1):c.*624G>A
|
rs988105334
|
0.00001
|
NM_000342.4(SLC4A1):c.-65C>A
|
rs886053001
|
0.00001
|
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile)
|
rs201821517
|
0.00001
|
NM_000342.4(SLC4A1):c.1431+13T>G
|
rs747632229
|
0.00001
|
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met)
|
rs757478694
|
0.00001
|
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)
|
rs368863744
|
0.00001
|
NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)
|
rs763988041
|
0.00001
|
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)
|
rs200107906
|
0.00001
|
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)
|
rs886052997
|
0.00001
|
NM_000342.4(SLC4A1):c.2482-9C>T
|
rs886052995
|
0.00001
|
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)
|
rs746103796
|
0.00001
|
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=)
|
rs886053000
|
0.00001
|
NM_000355.4(TCN2):c.*329G>A
|
rs779850312
|
0.00001
|
NM_000355.4(TCN2):c.*37C>T
|
rs531866634
|
0.00001
|
NM_000355.4(TCN2):c.*383C>T
|
rs896720175
|
0.00001
|
NM_000355.4(TCN2):c.-67C>T
|
rs1432247695
|
0.00001
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn)
|
rs773855163
|
0.00001
|
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile)
|
rs763836785
|
0.00001
|
NM_000361.3(THBD):c.*1315C>T
|
rs886056541
|
0.00001
|
NM_000361.3(THBD):c.*1505C>G
|
rs1439185320
|
0.00001
|
NM_000361.3(THBD):c.*1689C>T
|
rs886056540
|
0.00001
|
NM_000361.3(THBD):c.*169G>A
|
rs543317002
|
0.00001
|
NM_000361.3(THBD):c.*509C>T
|
rs1189083158
|
0.00001
|
NM_000361.3(THBD):c.-38G>A
|
rs750724405
|
0.00001
|
NM_000361.3(THBD):c.72G>A (p.Gln24=)
|
rs1185401752
|
0.00001
|
NM_000365.6(TPI1):c.*239C>T
|
rs886049811
|
0.00001
|
NM_000365.6(TPI1):c.*69C>T
|
rs782061169
|
0.00001
|
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
|
rs201432576
|
0.00001
|
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
|
rs781891192
|
0.00001
|
NM_000373.4(UMPS):c.*1080A>G
|
rs780894047
|
0.00001
|
NM_000373.4(UMPS):c.*1249C>G
|
rs1355056450
|
0.00001
|
NM_000373.4(UMPS):c.*1418T>A
|
rs886057874
|
0.00001
|
NM_000373.4(UMPS):c.*1535G>A
|
rs886057875
|
0.00001
|
NM_000373.4(UMPS):c.*1840A>G
|
rs183441859
|
0.00001
|
NM_000373.4(UMPS):c.*2197A>G
|
rs1443804306
|
0.00001
|
NM_000373.4(UMPS):c.*2632C>A
|
rs886057879
|
0.00001
|
NM_000373.4(UMPS):c.*2741C>T
|
rs2063604796
|
0.00001
|
NM_000373.4(UMPS):c.*3083G>T
|
rs886057887
|
0.00001
|
NM_000373.4(UMPS):c.*3193T>C
|
rs886057889
|
0.00001
|
NM_000373.4(UMPS):c.*3258A>C
|
rs886057890
|
0.00001
|
NM_000373.4(UMPS):c.*3495T>C
|
rs886057891
|
0.00001
|
NM_000373.4(UMPS):c.*3512C>G
|
rs997779825
|
0.00001
|
NM_000373.4(UMPS):c.*3594A>G
|
rs546056717
|
0.00001
|
NM_000373.4(UMPS):c.*4432A>G
|
rs1181472642
|
0.00001
|
NM_000373.4(UMPS):c.*4782G>A
|
rs2063624147
|
0.00001
|
NM_000373.4(UMPS):c.*4862A>G
|
rs886057898
|
0.00001
|
NM_000373.4(UMPS):c.*5027A>G
|
rs886057899
|
0.00001
|
NM_000373.4(UMPS):c.*5085C>A
|
rs929552121
|
0.00001
|
NM_000373.4(UMPS):c.*5133del
|
rs886057901
|
0.00001
|
NM_000373.4(UMPS):c.*516A>G
|
rs1393987054
|
0.00001
|
NM_000373.4(UMPS):c.768A>G (p.Leu256=)
|
rs780392037
|
0.00001
|
NM_000375.3(UROS):c.*56T>C
|
rs1436191296
|
0.00001
|
NM_000375.3(UROS):c.*92T>G
|
rs887568142
|
0.00001
|
NM_000375.3(UROS):c.169G>A (p.Gly57Arg)
|
rs200322717
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_000375.3(UROS):c.327A>C (p.Lys109Asn)
|
rs369561042
|
0.00001
|
NM_000375.3(UROS):c.53C>T (p.Pro18Leu)
|
rs766540245
|
0.00001
|
NM_000384.3(APOB):c.*207C>A
|
rs886055566
|
0.00001
|
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)
|
rs762255105
|
0.00001
|
NM_000384.3(APOB):c.12219C>T (p.Asn4073=)
|
rs886055573
|
0.00001
|
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys)
|
rs886055572
|
0.00001
|
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys)
|
rs886055571
|
0.00001
|
NM_000384.3(APOB):c.4216+4A>G
|
rs886055588
|
0.00001
|
NM_000419.5(ITGA2B):c.1217C>T (p.Ala406Val)
|
rs1204070474
|
0.00001
|
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=)
|
rs148618973
|
0.00001
|
NM_000419.5(ITGA2B):c.1537G>A (p.Val513Met)
|
rs112836157
|
0.00001
|
NM_000419.5(ITGA2B):c.1606A>C (p.Asn536His)
|
rs779647771
|
0.00001
|
NM_000419.5(ITGA2B):c.1753-3T>A
|
rs746932044
|
0.00001
|
NM_000419.5(ITGA2B):c.1762G>C (p.Asp588His)
|
rs773196676
|
0.00001
|
NM_000419.5(ITGA2B):c.188+7C>T
|
rs774338537
|
0.00001
|
NM_000419.5(ITGA2B):c.1888G>A (p.Val630Ile)
|
rs1271568680
|
0.00001
|
NM_000419.5(ITGA2B):c.2728-15G>T
|
rs540296465
|
0.00001
|
NM_000419.5(ITGA2B):c.625-7C>T
|
rs747504493
|
0.00001
|
NM_000433.4(NCF2):c.*445A>C
|
rs886045647
|
0.00001
|
NM_000433.4(NCF2):c.-98T>C
|
rs755614780
|
0.00001
|
NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys)
|
rs748489095
|
0.00001
|
NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr)
|
rs886045653
|
0.00001
|
NM_000433.4(NCF2):c.443C>T (p.Thr148Met)
|
rs764142541
|
0.00001
|
NM_000433.4(NCF2):c.996A>G (p.Ser332=)
|
rs1192520130
|
0.00001
|
NM_000460.4(THPO):c.14-11C>T
|
rs745850672
|
0.00001
|
NM_000460.4(THPO):c.303A>G (p.Gln101=)
|
rs775232517
|
0.00001
|
NM_000460.4(THPO):c.796C>T (p.Arg266Cys)
|
rs186070598
|
0.00001
|
NM_000460.4(THPO):c.808G>A (p.Gly270Arg)
|
rs759569299
|
0.00001
|
NM_000488.4(SERPINC1):c.1054A>G (p.Met352Val)
|
rs886045594
|
0.00001
|
NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser)
|
rs376029223
|
0.00001
|
NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln)
|
rs774294043
|
0.00001
|
NM_000488.4(SERPINC1):c.408+4C>T
|
rs201551398
|
0.00001
|
NM_000488.4(SERPINC1):c.975C>G (p.Ala325=)
|
rs200857896
|
0.00001
|
NM_000504.4(F10):c.1215C>T (p.Ala405=)
|
rs770904651
|
0.00001
|
NM_000504.4(F10):c.261C>T (p.Gly87=)
|
rs763365831
|
0.00001
|
NM_000504.4(F10):c.318G>C (p.Gly106=)
|
rs567909277
|
0.00001
|
NM_000505.4(F12):c.*86C>T
|
rs777897437
|
0.00001
|
NM_000505.4(F12):c.*9G>A
|
rs1763150862
|
0.00001
|
NM_000505.4(F12):c.158A>G (p.Tyr53Cys)
|
rs118204455
|
0.00001
|
NM_000505.4(F12):c.293G>A (p.Cys98Tyr)
|
rs770412757
|
0.00001
|
NM_000505.4(F12):c.30G>A (p.Leu10=)
|
rs745617919
|
0.00001
|
NM_000506.5(F2):c.1037C>T (p.Ser346Leu)
|
rs552341778
|
0.00001
|
NM_000506.5(F2):c.730G>T (p.Ala244Ser)
|
rs886048334
|
0.00001
|
NM_000506.5(F2):c.915G>A (p.Glu305=)
|
rs886048335
|
0.00001
|
NM_000518.5(HBB):c.*18C>A
|
rs1348310843
|
0.00001
|
NM_000518.5(HBB):c.*53C>A
|
rs886048393
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000519.4(HBD):c.97C>T (p.Leu33=)
|
rs746437742
|
0.00001
|
NM_000552.5(VWF):c.1497G>C (p.Gln499His)
|
rs774725519
|
0.00001
|
NM_000552.5(VWF):c.1730-5C>T
|
rs569984866
|
0.00001
|
NM_000552.5(VWF):c.2289G>A (p.Arg763=)
|
rs886049743
|
0.00001
|
NM_000552.5(VWF):c.3539-15A>G
|
rs748934603
|
0.00001
|
NM_000552.5(VWF):c.5170+3G>A
|
rs550242545
|
0.00001
|
NM_000552.5(VWF):c.5369C>T (p.Pro1790Leu)
|
rs551649729
|
0.00001
|
NM_000552.5(VWF):c.5493C>T (p.Tyr1831=)
|
rs769268109
|
0.00001
|
NM_000552.5(VWF):c.5620+10A>G
|
rs886049740
|
0.00001
|
NM_000552.5(VWF):c.6043G>A (p.Glu2015Lys)
|
rs775806908
|
0.00001
|
NM_000552.5(VWF):c.6196A>G (p.Asn2066Asp)
|
rs886049738
|
0.00001
|
NM_000552.5(VWF):c.6572T>C (p.Val2191Ala)
|
rs753731128
|
0.00001
|
NM_000552.5(VWF):c.7729+8A>G
|
rs775123891
|
0.00001
|
NM_000552.5(VWF):c.8155+8C>T
|
rs886049735
|
0.00001
|
NM_000602.5(SERPINE1):c.*1668G>C
|
rs886061843
|
0.00001
|
NM_000602.5(SERPINE1):c.*236C>T
|
rs1333856024
|
0.00001
|
NM_000602.5(SERPINE1):c.*456G>C
|
rs1334787082
|
0.00001
|
NM_000602.5(SERPINE1):c.*478A>C
|
rs540551187
|
0.00001
|
NM_000602.5(SERPINE1):c.*533C>T
|
rs1026075364
|
0.00001
|
NM_000602.5(SERPINE1):c.*859C>T
|
rs886061837
|
0.00001
|
NM_000602.5(SERPINE1):c.1088-11T>C
|
rs1356412166
|
0.00001
|
NM_000602.5(SERPINE1):c.989C>T (p.Thr330Met)
|
rs192692662
|
0.00001
|
NM_000617.3(SLC11A2):c.*1367T>C
|
rs1235162595
|
0.00001
|
NM_000617.3(SLC11A2):c.*1615T>C
|
rs557225035
|
0.00001
|
NM_000617.3(SLC11A2):c.*32A>G
|
rs886049565
|
0.00001
|
NM_000617.3(SLC11A2):c.*985G>A
|
rs886049562
|
0.00001
|
NM_000617.3(SLC11A2):c.*986C>A
|
rs886049561
|
0.00001
|
NM_000617.3(SLC11A2):c.-96C>T
|
rs747408183
|
0.00001
|
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp)
|
rs121918365
|
0.00001
|
NM_000617.3(SLC11A2):c.1511A>G (p.His504Arg)
|
rs1229345464
|
0.00001
|
NM_000617.3(SLC11A2):c.1596A>C (p.Ala532=)
|
rs760783598
|
0.00001
|
NM_000617.3(SLC11A2):c.1655C>T (p.Thr552Ile)
|
rs1469622244
|
0.00001
|
NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile)
|
rs886049567
|
0.00001
|
NM_000619.3(IFNG):c.*231T>C
|
rs1413472447
|
0.00001
|
NM_000619.3(IFNG):c.-34T>G
|
rs752463155
|
0.00001
|
NM_000619.3(IFNG):c.431C>T (p.Ser144Leu)
|
rs753611452
|
0.00001
|
NM_000821.7(GGCX):c.*199A>C
|
rs1455293219
|
0.00001
|
NM_000821.7(GGCX):c.*2226C>T
|
rs1002400857
|
0.00001
|
NM_000821.7(GGCX):c.*25T>C
|
rs765806745
|
0.00001
|
NM_000821.7(GGCX):c.*2647T>C
|
rs886056365
|
0.00001
|
NM_000821.7(GGCX):c.*2740A>C
|
rs1184420625
|
0.00001
|
NM_000821.7(GGCX):c.*3177T>G
|
rs1324933410
|
0.00001
|
NM_000821.7(GGCX):c.*3517T>C
|
rs886056364
|
0.00001
|
NM_000821.7(GGCX):c.*3924A>G
|
rs886056359
|
0.00001
|
NM_000821.7(GGCX):c.*4078G>A
|
rs866533240
|
0.00001
|
NM_000821.7(GGCX):c.*4681G>A
|
rs949866556
|
0.00001
|
NM_000821.7(GGCX):c.*4744C>T
|
rs886056356
|
0.00001
|
NM_000821.7(GGCX):c.*4798G>A
|
rs953351844
|
0.00001
|
NM_000821.7(GGCX):c.*703C>T
|
rs867939864
|
0.00001
|
NM_000821.7(GGCX):c.-53C>T
|
rs886056381
|
0.00001
|
NM_000821.7(GGCX):c.1155+12C>A
|
rs1284965933
|
0.00001
|
NM_000821.7(GGCX):c.1455T>C (p.Arg485=)
|
rs1416935549
|
0.00001
|
NM_000821.7(GGCX):c.269G>A (p.Arg90Gln)
|
rs753656195
|
0.00001
|
NM_000821.7(GGCX):c.654G>A (p.Lys218=)
|
rs774751096
|
0.00001
|
NM_000821.7(GGCX):c.903C>T (p.Tyr301=)
|
rs751710756
|
0.00001
|
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys)
|
rs750383596
|
0.00001
|
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
|
rs764296257
|
0.00001
|
NM_000975.5(RPL11):c.264+9A>T
|
rs777041270
|
0.00001
|
NM_000975.5(RPL11):c.287A>G (p.Lys96Arg)
|
rs369949969
|
0.00001
|
NM_000975.5(RPL11):c.306T>C (p.Thr102=)
|
rs886046309
|
0.00001
|
NM_000996.4(RPL35A):c.-31C>T
|
rs766043927
|
0.00001
|
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp)
|
rs1349665099
|
0.00001
|
NM_001001547.3(CD36):c.-206A>C
|
rs1792285972
|
0.00001
|
NM_001001547.3(CD36):c.-286C>A
|
rs886062450
|
0.00001
|
NM_001001547.3(CD36):c.-297G>A
|
rs886062449
|
0.00001
|
NM_001001548.3(CD36):c.1126-15T>C
|
rs758766716
|
0.00001
|
NM_001001548.3(CD36):c.281G>A (p.Arg94Lys)
|
rs1796118367
|
0.00001
|
NM_001001548.3(CD36):c.355G>T (p.Gly119Cys)
|
rs1250857302
|
0.00001
|
NM_001001548.3(CD36):c.456A>G (p.Gln152=)
|
rs543785881
|
0.00001
|
NM_001001548.3(CD36):c.695G>T (p.Gly232Val)
|
rs535150936
|
0.00001
|
NM_001001548.3(CD36):c.819-8G>A
|
rs769908351
|
0.00001
|
NM_001001548.3(CD36):c.853C>T (p.Leu285=)
|
rs780267115
|
0.00001
|
NM_001011.4(RPS7):c.-13C>T
|
rs765604580
|
0.00001
|
NM_001011.4(RPS7):c.39C>T (p.Gly13=)
|
rs746686516
|
0.00001
|
NM_001011.4(RPS7):c.580T>C (p.Leu194=)
|
rs1480952113
|
0.00001
|
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
|
rs764156696
|
0.00001
|
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)
|
rs1057515805
|
0.00001
|
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
|
rs1317100453
|
0.00001
|
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)
|
rs1057515808
|
0.00001
|
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met)
|
rs760246372
|
0.00001
|
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
|
rs1447943740
|
0.00001
|
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg)
|
rs2087692676
|
0.00001
|
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)
|
rs769811062
|
0.00001
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
0.00001
|
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=)
|
rs1168183069
|
0.00001
|
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu)
|
rs367552677
|
0.00001
|
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys)
|
rs771078251
|
0.00001
|
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
|
rs760054945
|
0.00001
|
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys)
|
rs772201181
|
0.00001
|
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
|
rs61753270
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+179C>T
|
rs370459744
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+525A>G
|
rs886057695
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+562C>A
|
rs550613588
|
0.00001
|
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
|
rs41291203
|
0.00001
|
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
|
rs2086806957
|
0.00001
|
NM_001022.3(RPS19):c.-139C>T
|
rs886054467
|
0.00001
|
NM_001022.3(RPS19):c.-339T>C
|
rs886054465
|
0.00001
|
NM_001022.4(RPS19):c.-1+14C>T
|
rs886054469
|
0.00001
|
NM_001029.5(RPS26):c.-80C>T
|
rs886049687
|
0.00001
|
NM_001029.5(RPS26):c.93C>T (p.Pro31=)
|
rs760255764
|
0.00001
|
NM_001040436.3(YARS2):c.*230A>G
|
rs371690622
|
0.00001
|
NM_001040436.3(YARS2):c.234T>C (p.Cys78=)
|
rs565102282
|
0.00001
|
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser)
|
rs376934259
|
0.00001
|
NM_001063.4(TF):c.1029G>A (p.Arg343=)
|
rs762383370
|
0.00001
|
NM_001063.4(TF):c.1198A>G (p.Ile400Val)
|
rs200250866
|
0.00001
|
NM_001063.4(TF):c.1204-14C>A
|
rs1406126776
|
0.00001
|
NM_001063.4(TF):c.1785C>T (p.Asn595=)
|
rs757985238
|
0.00001
|
NM_001063.4(TF):c.311A>G (p.Tyr104Cys)
|
rs746672239
|
0.00001
|
NM_001063.4(TF):c.60C>T (p.Val20=)
|
rs756125441
|
0.00001
|
NM_001063.4(TF):c.680C>T (p.Ser227Leu)
|
rs1295939213
|
0.00001
|
NM_001081.4(CUBN):c.*203C>T
|
rs769041830
|
0.00001
|
NM_001081.4(CUBN):c.*281A>G
|
rs886046858
|
0.00001
|
NM_001081.4(CUBN):c.*446A>G
|
rs1315458918
|
0.00001
|
NM_001081.4(CUBN):c.-42G>T
|
rs751905101
|
0.00001
|
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys)
|
rs755210947
|
0.00001
|
NM_001081.4(CUBN):c.10181-14A>G
|
rs886046864
|
0.00001
|
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
|
rs760807440
|
0.00001
|
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
|
rs866820343
|
0.00001
|
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
|
rs770392464
|
0.00001
|
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val)
|
rs775423928
|
0.00001
|
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys)
|
rs760682560
|
0.00001
|
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
|
rs773480436
|
0.00001
|
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
|
rs138052938
|
0.00001
|
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)
|
rs769881615
|
0.00001
|
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=)
|
rs886046874
|
0.00001
|
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr)
|
rs768182223
|
0.00001
|
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=)
|
rs757609735
|
0.00001
|
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His)
|
rs376122892
|
0.00001
|
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser)
|
rs886046870
|
0.00001
|
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
|
rs757192279
|
0.00001
|
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=)
|
rs748416223
|
0.00001
|
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met)
|
rs535261179
|
0.00001
|
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn)
|
rs771697506
|
0.00001
|
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)
|
rs373893072
|
0.00001
|
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)
|
rs200235278
|
0.00001
|
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys)
|
rs562374248
|
0.00001
|
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=)
|
rs767131065
|
0.00001
|
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
|
rs1241849194
|
0.00001
|
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
|
rs976401499
|
0.00001
|
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)
|
rs559567467
|
0.00001
|
NM_001113378.2(FANCI):c.-23G>A
|
rs886051506
|
0.00001
|
NM_001113378.2(FANCI):c.-72C>G
|
rs886051505
|
0.00001
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
0.00001
|
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
|
rs757610698
|
0.00001
|
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
|
rs199758631
|
0.00001
|
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr)
|
rs886051507
|
0.00001
|
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
|
rs1194951081
|
0.00001
|
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)
|
rs767103109
|
0.00001
|
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala)
|
rs886051513
|
0.00001
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)
|
rs1043718711
|
0.00001
|
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val)
|
rs368451326
|
0.00001
|
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
|
rs149763090
|
0.00001
|
NM_001113378.2(FANCI):c.539T>C (p.Met180Thr)
|
rs139834845
|
0.00001
|
NM_001113378.2(FANCI):c.546-6C>T
|
rs754929965
|
0.00001
|
NM_001114134.2(EPB42):c.860G>A (p.Arg287His)
|
rs371685912
|
0.00001
|
NM_001114134.2(EPB42):c.901C>T (p.Arg301Cys)
|
rs886051167
|
0.00001
|
NM_001128227.3(GNE):c.52-9097C>T
|
rs886063929
|
0.00001
|
NM_001172303.3(MASTL):c.1997A>G (p.Asn666Ser)
|
rs747762064
|
0.00001
|
NM_001172303.3(MASTL):c.2124+14T>C
|
rs759432726
|
0.00001
|
NM_001172303.3(MASTL):c.2148G>A (p.Ser716=)
|
rs200073086
|
0.00001
|
NM_001172303.3(MASTL):c.2266+9T>C
|
rs886046959
|
0.00001
|
NM_001172303.3(MASTL):c.2521G>A (p.Glu841Lys)
|
rs1188516311
|
0.00001
|
NM_001172303.3(MASTL):c.2526T>C (p.Asn842=)
|
rs886046961
|
0.00001
|
NM_001174125.2(SLC11A2):c.49+1791C>T
|
rs920922103
|
0.00001
|
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)
|
rs886051894
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)
|
rs886051893
|
0.00001
|
NM_001250.6(CD40):c.*560C>T
|
rs1185046356
|
0.00001
|
NM_001250.6(CD40):c.256+8C>T
|
rs775430615
|
0.00001
|
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
|
rs1175852840
|
0.00001
|
NM_001271696.3(ABCB7):c.168+13T>C
|
rs1057515989
|
0.00001
|
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
|
rs141119655
|
0.00001
|
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)
|
rs781524899
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=)
|
rs976867694
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1197-4C>G
|
rs529716198
|
0.00001
|
NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=)
|
rs565997258
|
0.00001
|
NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val)
|
rs770790879
|
0.00001
|
NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val)
|
rs766769149
|
0.00001
|
NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg)
|
rs758253807
|
0.00001
|
NM_001374504.1(TMPRSS6):c.693C>T (p.His231=)
|
rs769301726
|
0.00001
|
NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met)
|
rs1319296800
|
0.00001
|
NM_001375808.2(LPIN2):c.*1104C>T
|
rs913148654
|
0.00001
|
NM_001375808.2(LPIN2):c.*1146T>C
|
rs1384648245
|
0.00001
|
NM_001375808.2(LPIN2):c.*1239C>T
|
rs1257894281
|
0.00001
|
NM_001375808.2(LPIN2):c.*1497C>T
|
rs1321388898
|
0.00001
|
NM_001375808.2(LPIN2):c.*493G>C
|
rs886053758
|
0.00001
|
NM_001375808.2(LPIN2):c.*506C>T
|
rs886053757
|
0.00001
|
NM_001375808.2(LPIN2):c.*517G>A
|
rs760055818
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1254G>A
|
rs886053770
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1349A>G
|
rs538473680
|
0.00001
|
NM_001375808.2(LPIN2):c.1171G>A (p.Val391Ile)
|
rs886053767
|
0.00001
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
NM_001375808.2(LPIN2):c.1839C>T (p.Leu613=)
|
rs886053766
|
0.00001
|
NM_001375808.2(LPIN2):c.2547-1G>A
|
rs145858312
|
0.00001
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg)
|
rs139798681
|
0.00001
|
NM_001386140.1(MTTP):c.*1018G>A
|
rs1036088923
|
0.00001
|
NM_001386140.1(MTTP):c.*184G>A
|
rs146172944
|
0.00001
|
NM_001386140.1(MTTP):c.*490_*494del
|
rs886058963
|
0.00001
|
NM_001386140.1(MTTP):c.*668A>G
|
rs1021704277
|
0.00001
|
NM_001386140.1(MTTP):c.-20G>A
|
rs752823787
|
0.00001
|
NM_001386140.1(MTTP):c.-28T>C
|
rs886058956
|
0.00001
|
NM_001386140.1(MTTP):c.-54C>T
|
rs181769817
|
0.00001
|
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser)
|
rs138544271
|
0.00001
|
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser)
|
rs758939873
|
0.00001
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
0.00001
|
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)
|
rs748108500
|
0.00001
|
NM_001386140.1(MTTP):c.756G>A (p.Ser252=)
|
rs750749323
|
0.00001
|
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp)
|
rs1428463955
|
0.00001
|
NM_001430.5(EPAS1):c.*1729T>C
|
rs540325300
|
0.00001
|
NM_001430.5(EPAS1):c.*486C>T
|
rs886056090
|
0.00001
|
NM_001430.5(EPAS1):c.-452A>C
|
rs886056076
|
0.00001
|
NM_001430.5(EPAS1):c.-86C>T
|
rs886056083
|
0.00001
|
NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)
|
rs999859536
|
0.00001
|
NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln)
|
rs374829070
|
0.00001
|
NM_001430.5(EPAS1):c.882G>C (p.Gln294His)
|
rs769949241
|
0.00001
|
NM_001710.6(CFB):c.1762T>C (p.Tyr588His)
|
rs1364257553
|
0.00001
|
NM_001710.6(CFB):c.917A>G (p.Lys306Arg)
|
rs374738591
|
0.00001
|
NM_001754.5(RUNX1):c.*134C>T
|
rs1004564780
|
0.00001
|
NM_001754.5(RUNX1):c.*1400G>A
|
rs1320740761
|
0.00001
|
NM_001754.5(RUNX1):c.*2780A>G
|
rs886057034
|
0.00001
|
NM_001754.5(RUNX1):c.*3138C>G
|
rs886057033
|
0.00001
|
NM_001754.5(RUNX1):c.*3297T>C
|
rs144175289
|
0.00001
|
NM_001754.5(RUNX1):c.*3557C>T
|
rs1046862110
|
0.00001
|
NM_001754.5(RUNX1):c.*3588G>C
|
rs886057031
|
0.00001
|
NM_001754.5(RUNX1):c.*3638G>A
|
rs1568997203
|
0.00001
|
NM_001754.5(RUNX1):c.*587T>A
|
rs753931767
|
0.00001
|
NM_001754.5(RUNX1):c.764A>G (p.His255Arg)
|
rs746977462
|
0.00001
|
NM_001754.5(RUNX1):c.981G>C (p.Leu327=)
|
rs376269814
|
0.00001
|
NM_001770.6(CD19):c.1204G>A (p.Glu402Lys)
|
rs886051887
|
0.00001
|
NM_001770.6(CD19):c.488G>A (p.Arg163His)
|
rs772346128
|
0.00001
|
NM_001770.6(CD19):c.687G>C (p.Glu229Asp)
|
rs773781983
|
0.00001
|
NM_001814.6(CTSC):c.1097A>T (p.His366Leu)
|
rs751798574
|
0.00001
|
NM_001814.6(CTSC):c.12G>A (p.Gly4=)
|
rs755959403
|
0.00001
|
NM_001814.6(CTSC):c.318+4A>G
|
rs781383788
|
0.00001
|
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys)
|
rs763656343
|
0.00001
|
NM_001814.6(CTSC):c.642-15A>G
|
rs748280232
|
0.00001
|
NM_001814.6(CTSC):c.81T>G (p.Pro27=)
|
rs1370319468
|
0.00001
|
NM_001994.3(F13B):c.-23C>A
|
rs761442589
|
0.00001
|
NM_001994.3(F13B):c.1145A>G (p.Lys382Arg)
|
rs755966271
|
0.00001
|
NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys)
|
rs201438197
|
0.00001
|
NM_001994.3(F13B):c.645_647del (p.Leu216del)
|
rs750927097
|
0.00001
|
NM_001994.3(F13B):c.675T>A (p.His225Gln)
|
rs182353865
|
0.00001
|
NM_002203.4(ITGA2):c.*1199C>T
|
rs1042323
|
0.00001
|
NM_002203.4(ITGA2):c.*1897A>T
|
rs79223114
|
0.00001
|
NM_002203.4(ITGA2):c.*2051A>G
|
rs1223966045
|
0.00001
|
NM_002203.4(ITGA2):c.*2392G>A
|
rs886060676
|
0.00001
|
NM_002203.4(ITGA2):c.*2648A>G
|
rs1001186003
|
0.00001
|
NM_002203.4(ITGA2):c.*2782C>G
|
rs886060684
|
0.00001
|
NM_002203.4(ITGA2):c.*2921G>A
|
rs886060685
|
0.00001
|
NM_002203.4(ITGA2):c.*298A>G
|
rs1184111868
|
0.00001
|
NM_002203.4(ITGA2):c.*3166G>A
|
rs1740558620
|
0.00001
|
NM_002203.4(ITGA2):c.*67G>C
|
rs1437160437
|
0.00001
|
NM_002203.4(ITGA2):c.-35C>T
|
rs768692399
|
0.00001
|
NM_002203.4(ITGA2):c.-89T>A
|
rs543948644
|
0.00001
|
NM_002203.4(ITGA2):c.1108G>A (p.Gly370Arg)
|
rs140178479
|
0.00001
|
NM_002203.4(ITGA2):c.171T>A (p.Asn57Lys)
|
rs780441074
|
0.00001
|
NM_002203.4(ITGA2):c.185+10T>C
|
rs758980432
|
0.00001
|
NM_002203.4(ITGA2):c.1958C>A (p.Ala653Asp)
|
rs748826809
|
0.00001
|
NM_002203.4(ITGA2):c.2730C>T (p.Phe910=)
|
rs372372566
|
0.00001
|
NM_002203.4(ITGA2):c.502+12A>G
|
rs752392366
|
0.00001
|
NM_002203.4(ITGA2):c.602G>A (p.Gly201Asp)
|
rs773789837
|
0.00001
|
NM_002203.4(ITGA2):c.614G>T (p.Gly205Val)
|
rs886060657
|
0.00001
|
NM_002473.6(MYH9):c.*1330A>G
|
rs1374073858
|
0.00001
|
NM_002473.6(MYH9):c.*656T>C
|
rs886057474
|
0.00001
|
NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn)
|
rs767088377
|
0.00001
|
NM_002473.6(MYH9):c.1590G>A (p.Glu530=)
|
rs533935135
|
0.00001
|
NM_002473.6(MYH9):c.2226C>T (p.Leu742=)
|
rs762499584
|
0.00001
|
NM_002473.6(MYH9):c.2500-9C>T
|
rs1364784964
|
0.00001
|
NM_002473.6(MYH9):c.3371G>A (p.Arg1124His)
|
rs765237081
|
0.00001
|
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=)
|
rs876657520
|
0.00001
|
NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val)
|
rs772915368
|
0.00001
|
NM_002473.6(MYH9):c.420C>T (p.Gly140=)
|
rs372621048
|
0.00001
|
NM_002473.6(MYH9):c.4955G>A (p.Arg1652His)
|
rs779135945
|
0.00001
|
NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln)
|
rs754714910
|
0.00001
|
NM_002473.6(MYH9):c.519-6T>G
|
rs867195616
|
0.00001
|
NM_002473.6(MYH9):c.5489G>A (p.Arg1830His)
|
rs966415372
|
0.00001
|
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)
|
rs748946434
|
0.00001
|
NM_002473.6(MYH9):c.5769C>T (p.Arg1923=)
|
rs370834297
|
0.00001
|
NM_002658.4(PLAU):c.*935A>G
|
rs886047214
|
0.00001
|
NM_002658.6(PLAU):c.*309T>C
|
rs1026194457
|
0.00001
|
NM_002658.6(PLAU):c.*474G>A
|
rs184153523
|
0.00001
|
NM_002658.6(PLAU):c.*880T>A
|
rs886047212
|
0.00001
|
NM_002658.6(PLAU):c.-32G>A
|
rs886047205
|
0.00001
|
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn)
|
rs764051398
|
0.00001
|
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly)
|
rs183208966
|
0.00001
|
NM_003126.4(SPTA1):c.*379G>A
|
rs976671141
|
0.00001
|
NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu)
|
rs753495645
|
0.00001
|
NM_003126.4(SPTA1):c.1463T>A (p.Val488Glu)
|
rs754575328
|
0.00001
|
NM_003126.4(SPTA1):c.1573T>C (p.Phe525Leu)
|
rs886045391
|
0.00001
|
NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met)
|
rs777149969
|
0.00001
|
NM_003126.4(SPTA1):c.2323T>C (p.Phe775Leu)
|
rs772872696
|
0.00001
|
NM_003126.4(SPTA1):c.2822A>G (p.His941Arg)
|
rs751259397
|
0.00001
|
NM_003126.4(SPTA1):c.3189-10C>T
|
rs769083223
|
0.00001
|
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg)
|
rs568501725
|
0.00001
|
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly)
|
rs369714529
|
0.00001
|
NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala)
|
rs182430449
|
0.00001
|
NM_003126.4(SPTA1):c.5433-13C>A
|
rs770095010
|
0.00001
|
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)
|
rs746827368
|
0.00001
|
NM_003126.4(SPTA1):c.5566-11T>C
|
rs886045382
|
0.00001
|
NM_003126.4(SPTA1):c.5643A>G (p.Gln1881=)
|
rs375384407
|
0.00001
|
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)
|
rs199547344
|
0.00001
|
NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn)
|
rs757836340
|
0.00001
|
NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser)
|
rs182897201
|
0.00001
|
NM_003126.4(SPTA1):c.6372G>A (p.Val2124=)
|
rs1376244991
|
0.00001
|
NM_003126.4(SPTA1):c.6621G>A (p.Gln2207=)
|
rs1206486118
|
0.00001
|
NM_003126.4(SPTA1):c.679-5A>C
|
rs772845211
|
0.00001
|
NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys)
|
rs553043635
|
0.00001
|
NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile)
|
rs750904139
|
0.00001
|
NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser)
|
rs376198878
|
0.00001
|
NM_003126.4(SPTA1):c.966G>A (p.Glu322=)
|
rs750150735
|
0.00001
|
NM_003664.5(AP3B1):c.*141T>C
|
rs753283084
|
0.00001
|
NM_003664.5(AP3B1):c.*447C>T
|
rs886060768
|
0.00001
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
NM_003664.5(AP3B1):c.537-7T>A
|
rs773657171
|
0.00001
|
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala)
|
rs778281326
|
0.00001
|
NM_004629.1(FANCG):c.-491G>A
|
rs886063901
|
0.00001
|
NM_004629.2(FANCG):c.*101A>G
|
rs751616369
|
0.00001
|
NM_004629.2(FANCG):c.-276G>A
|
rs1445799529
|
0.00001
|
NM_004629.2(FANCG):c.-311T>A
|
rs886063900
|
0.00001
|
NM_004629.2(FANCG):c.-348A>G
|
rs376750755
|
0.00001
|
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys)
|
rs886063896
|
0.00001
|
NM_004629.2(FANCG):c.1434-6C>T
|
rs1404150675
|
0.00001
|
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser)
|
rs1447816480
|
0.00001
|
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr)
|
rs765095688
|
0.00001
|
NM_004629.2(FANCG):c.999C>T (p.Asp333=)
|
rs762238437
|
0.00001
|
NM_005141.5(FGB):c.*1019G>T
|
rs1478189415
|
0.00001
|
NM_005141.5(FGB):c.*1892G>A
|
rs765456260
|
0.00001
|
NM_005141.5(FGB):c.*36A>G
|
rs758231685
|
0.00001
|
NM_005141.5(FGB):c.*427G>A
|
rs1196345013
|
0.00001
|
NM_005141.5(FGB):c.-6_-5del
|
rs757727864
|
0.00001
|
NM_005141.5(FGB):c.103G>A (p.Asp35Asn)
|
rs747783086
|
0.00001
|
NM_005141.5(FGB):c.332A>G (p.Gln111Arg)
|
rs758080375
|
0.00001
|
NM_005141.5(FGB):c.564T>C (p.Asn188=)
|
rs759250713
|
0.00001
|
NM_005141.5(FGB):c.659T>C (p.Met220Thr)
|
rs1363577874
|
0.00001
|
NM_005141.5(FGB):c.762G>A (p.Met254Ile)
|
rs201536638
|
0.00001
|
NM_005141.5(FGB):c.80T>C (p.Leu27Pro)
|
rs1442627097
|
0.00001
|
NM_005142.3(CBLIF):c.*56T>G
|
rs886048401
|
0.00001
|
NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser)
|
rs766270119
|
0.00001
|
NM_005142.3(CBLIF):c.239T>C (p.Met80Thr)
|
rs376339959
|
0.00001
|
NM_005373.3(MPL):c.*1021T>C
|
rs1038231812
|
0.00001
|
NM_005373.3(MPL):c.*183G>A
|
rs1228514763
|
0.00001
|
NM_005373.3(MPL):c.-13A>C
|
rs746384923
|
0.00001
|
NM_005373.3(MPL):c.1238C>T (p.Pro413Leu)
|
rs886046350
|
0.00001
|
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)
|
rs886046351
|
0.00001
|
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)
|
rs561724539
|
0.00001
|
NM_005373.3(MPL):c.641C>T (p.Pro214Leu)
|
rs775165199
|
0.00001
|
NM_005373.3(MPL):c.854-3T>C
|
rs201514537
|
0.00001
|
NM_005373.3(MPL):c.95C>T (p.Ala32Val)
|
rs886046348
|
0.00001
|
NM_005476.7(GNE):c.*2453C>A
|
rs1163596916
|
0.00001
|
NM_005476.7(GNE):c.*2550G>A
|
rs191345940
|
0.00001
|
NM_005476.7(GNE):c.*2709T>C
|
rs1390610132
|
0.00001
|
NM_005476.7(GNE):c.*513G>A
|
rs886063923
|
0.00001
|
NM_005476.7(GNE):c.1251G>A (p.Thr417=)
|
rs758086020
|
0.00001
|
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys)
|
rs1306768272
|
0.00001
|
NM_005476.7(GNE):c.2079C>T (p.Asp693=)
|
rs548244588
|
0.00001
|
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)
|
rs552758282
|
0.00001
|
NM_005476.7(GNE):c.530G>A (p.Arg177His)
|
rs772597073
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005570.4(LMAN1):c.*1271A>G
|
rs186096990
|
0.00001
|
NM_005570.4(LMAN1):c.*1300C>T
|
rs1264494097
|
0.00001
|
NM_005570.4(LMAN1):c.*1862A>G
|
rs893452939
|
0.00001
|
NM_005570.4(LMAN1):c.*2670G>C
|
rs1263821261
|
0.00001
|
NM_005570.4(LMAN1):c.*2893G>A
|
rs143943495
|
0.00001
|
NM_005570.4(LMAN1):c.*480A>G
|
rs1169482714
|
0.00001
|
NM_005570.4(LMAN1):c.*763T>A
|
rs915077070
|
0.00001
|
NM_005570.4(LMAN1):c.*794A>G
|
rs534664183
|
0.00001
|
NM_005570.4(LMAN1):c.106G>C (p.Asp36His)
|
rs749081325
|
0.00001
|
NM_005570.4(LMAN1):c.1310T>C (p.Ile437Thr)
|
rs199557121
|
0.00001
|
NM_005570.4(LMAN1):c.463G>C (p.Asp155His)
|
rs761881594
|
0.00001
|
NM_005570.4(LMAN1):c.597T>C (p.Tyr199=)
|
rs984139447
|
0.00001
|
NM_005570.4(LMAN1):c.775G>A (p.Val259Ile)
|
rs948402457
|
0.00001
|
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp)
|
rs886045320
|
0.00001
|
NM_006118.4(HAX1):c.798C>T (p.Ser266=)
|
rs762492730
|
0.00001
|
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser)
|
rs759963419
|
0.00001
|
NM_006206.6(PDGFRA):c.*1102T>G
|
rs1577757624
|
0.00001
|
NM_006206.6(PDGFRA):c.*1195A>C
|
rs1219021519
|
0.00001
|
NM_006206.6(PDGFRA):c.*1334G>A
|
rs1278770606
|
0.00001
|
NM_006206.6(PDGFRA):c.*1521C>T
|
rs886059457
|
0.00001
|
NM_006206.6(PDGFRA):c.*1706T>C
|
rs886059458
|
0.00001
|
NM_006206.6(PDGFRA):c.*2475C>T
|
rs886059460
|
0.00001
|
NM_006206.6(PDGFRA):c.*2655A>G
|
rs910994718
|
0.00001
|
NM_006206.6(PDGFRA):c.*2840A>G
|
rs886059462
|
0.00001
|
NM_006206.6(PDGFRA):c.1122-6T>A
|
rs754623338
|
0.00001
|
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)
|
rs1218651787
|
0.00001
|
NM_006206.6(PDGFRA):c.2003-7C>T
|
rs886059447
|
0.00001
|
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)
|
rs1060504254
|
0.00001
|
NM_006206.6(PDGFRA):c.2881-8G>A
|
rs778161572
|
0.00001
|
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)
|
rs778510648
|
0.00001
|
NM_006363.5(SEC23B):c.-80G>A
|
rs886056524
|
0.00001
|
NM_006363.6(SEC23B):c.*32T>G
|
rs879811598
|
0.00001
|
NM_006363.6(SEC23B):c.*448C>T
|
rs550932027
|
0.00001
|
NM_006363.6(SEC23B):c.*561A>C
|
rs778992067
|
0.00001
|
NM_006363.6(SEC23B):c.1234-11A>G
|
rs187699090
|
0.00001
|
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)
|
rs767683935
|
0.00001
|
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)
|
rs201656419
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys)
|
rs768018657
|
0.00001
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln)
|
rs370537015
|
0.00001
|
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val)
|
rs754320262
|
0.00001
|
NM_006563.5(KLF1):c.*2C>T
|
rs778904219
|
0.00001
|
NM_006563.5(KLF1):c.*312G>C
|
rs1970414362
|
0.00001
|
NM_006563.5(KLF1):c.255G>A (p.Pro85=)
|
rs886054238
|
0.00001
|
NM_006563.5(KLF1):c.353G>A (p.Gly118Asp)
|
rs886054237
|
0.00001
|
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys)
|
rs111888566
|
0.00001
|
NM_006563.5(KLF1):c.606G>A (p.Gly202=)
|
rs886054236
|
0.00001
|
NM_006563.5(KLF1):c.690C>T (p.Ala230=)
|
rs775669419
|
0.00001
|
NM_006846.4(SPINK5):c.1194C>T (p.Asn398=)
|
rs750608792
|
0.00001
|
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr)
|
rs759856421
|
0.00001
|
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile)
|
rs1431258015
|
0.00001
|
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr)
|
rs1212563023
|
0.00001
|
NM_006846.4(SPINK5):c.2964+14T>G
|
rs1017737800
|
0.00001
|
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=)
|
rs571812048
|
0.00001
|
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys)
|
rs757745500
|
0.00001
|
NM_006947.4(SRP72):c.*227G>A
|
rs879875987
|
0.00001
|
NM_006947.4(SRP72):c.*473G>A
|
rs1020026480
|
0.00001
|
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)
|
rs752240949
|
0.00001
|
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)
|
rs1719782337
|
0.00001
|
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)
|
rs763655714
|
0.00001
|
NM_006996.3(SLC19A2):c.*1927C>T
|
rs1657926116
|
0.00001
|
NM_006996.3(SLC19A2):c.*627C>T
|
rs886045527
|
0.00001
|
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=)
|
rs772129644
|
0.00001
|
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=)
|
rs747484241
|
0.00001
|
NM_006996.3(SLC19A2):c.807+6C>G
|
rs201700843
|
0.00001
|
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=)
|
rs1351692845
|
0.00001
|
NM_012092.4(ICOS):c.*1269A>C
|
rs1430869619
|
0.00001
|
NM_012092.4(ICOS):c.*1457A>G
|
rs749858926
|
0.00001
|
NM_012092.4(ICOS):c.*931A>G
|
rs886055497
|
0.00001
|
NM_014915.3(ANKRD26):c.*1243A>G
|
rs1264848589
|
0.00001
|
NM_014915.3(ANKRD26):c.*1351G>T
|
rs1355694401
|
0.00001
|
NM_014915.3(ANKRD26):c.*530C>G
|
rs886046941
|
0.00001
|
NM_014915.3(ANKRD26):c.*69T>C
|
rs200102083
|
0.00001
|
NM_014915.3(ANKRD26):c.*704C>G
|
rs886046940
|
0.00001
|
NM_014915.3(ANKRD26):c.*8G>T
|
rs886046943
|
0.00001
|
NM_014915.3(ANKRD26):c.-138C>G
|
rs886046950
|
0.00001
|
NM_014915.3(ANKRD26):c.-4G>A
|
rs779013762
|
0.00001
|
NM_014915.3(ANKRD26):c.1176T>C (p.Tyr392=)
|
rs368451975
|
0.00001
|
NM_014915.3(ANKRD26):c.1439T>C (p.Val480Ala)
|
rs886046947
|
0.00001
|
NM_014915.3(ANKRD26):c.1492-6A>G
|
rs946903113
|
0.00001
|
NM_014915.3(ANKRD26):c.1754G>C (p.Arg585Thr)
|
rs1293742057
|
0.00001
|
NM_014915.3(ANKRD26):c.426G>A (p.Ala142=)
|
rs746957045
|
0.00001
|
NM_014915.3(ANKRD26):c.4284A>C (p.Gln1428His)
|
rs771059446
|
0.00001
|
NM_014915.3(ANKRD26):c.93G>A (p.Gly31=)
|
rs746535031
|
0.00001
|
NM_015175.3(NBEAL2):c.-162C>T
|
rs886058587
|
0.00001
|
NM_015175.3(NBEAL2):c.1114-9C>T
|
rs375381261
|
0.00001
|
NM_015175.3(NBEAL2):c.1156A>G (p.Arg386Gly)
|
rs187629020
|
0.00001
|
NM_015175.3(NBEAL2):c.1367C>T (p.Ala456Val)
|
rs756484174
|
0.00001
|
NM_015175.3(NBEAL2):c.1393G>A (p.Ala465Thr)
|
rs746838327
|
0.00001
|
NM_015175.3(NBEAL2):c.1728T>G (p.Arg576=)
|
rs772273759
|
0.00001
|
NM_015175.3(NBEAL2):c.1899-6C>T
|
rs775271035
|
0.00001
|
NM_015175.3(NBEAL2):c.1975C>T (p.Arg659Trp)
|
rs555487179
|
0.00001
|
NM_015175.3(NBEAL2):c.2473+7A>G
|
rs886058595
|
0.00001
|
NM_015175.3(NBEAL2):c.2486C>T (p.Thr829Met)
|
rs577957158
|
0.00001
|
NM_015175.3(NBEAL2):c.2887G>T (p.Gly963Cys)
|
rs368638331
|
0.00001
|
NM_015175.3(NBEAL2):c.2958+3G>A
|
rs901826862
|
0.00001
|
NM_015175.3(NBEAL2):c.3119-6G>A
|
rs771952228
|
0.00001
|
NM_015175.3(NBEAL2):c.3607C>T (p.Arg1203Trp)
|
rs769438781
|
0.00001
|
NM_015175.3(NBEAL2):c.3789+4A>C
|
rs768165695
|
0.00001
|
NM_015175.3(NBEAL2):c.406C>T (p.Leu136=)
|
rs772350824
|
0.00001
|
NM_015175.3(NBEAL2):c.4123G>A (p.Gly1375Ser)
|
rs771754714
|
0.00001
|
NM_015175.3(NBEAL2):c.4459C>T (p.Arg1487Cys)
|
rs763635071
|
0.00001
|
NM_015175.3(NBEAL2):c.6145T>C (p.Tyr2049His)
|
rs886058601
|
0.00001
|
NM_015175.3(NBEAL2):c.7736T>C (p.Ile2579Thr)
|
rs778429939
|
0.00001
|
NM_015175.3(NBEAL2):c.907C>G (p.Leu303Val)
|
rs886058593
|
0.00001
|
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)
|
rs760590651
|
0.00001
|
NM_017875.4(SLC25A38):c.*381G>C
|
rs2041837298
|
0.00001
|
NM_017875.4(SLC25A38):c.-325G>C
|
rs886058467
|
0.00001
|
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val)
|
rs759315257
|
0.00001
|
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)
|
rs765578993
|
0.00001
|
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)
|
rs764125735
|
0.00001
|
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)
|
rs369876807
|
0.00001
|
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)
|
rs1685420223
|
0.00001
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln)
|
rs886061692
|
0.00001
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
|
rs201773048
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_018389.5(SLC35C1):c.*1419A>G
|
rs2085964667
|
0.00001
|
NM_018389.5(SLC35C1):c.*1543C>G
|
rs766558309
|
0.00001
|
NM_018389.5(SLC35C1):c.*1647T>C
|
rs886048323
|
0.00001
|
NM_018389.5(SLC35C1):c.*542A>T
|
rs538005835
|
0.00001
|
NM_018389.5(SLC35C1):c.*650C>A
|
rs780018107
|
0.00001
|
NM_018389.5(SLC35C1):c.*72G>A
|
rs528884213
|
0.00001
|
NM_018389.5(SLC35C1):c.-287C>G
|
rs974599944
|
0.00001
|
NM_018389.5(SLC35C1):c.-312T>C
|
rs886048312
|
0.00001
|
NM_018389.5(SLC35C1):c.-393C>T
|
rs886048311
|
0.00001
|
NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile)
|
rs768592798
|
0.00001
|
NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly)
|
rs759504632
|
0.00001
|
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala)
|
rs769916550
|
0.00001
|
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His)
|
rs886048314
|
0.00001
|
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=)
|
rs754930082
|
0.00001
|
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met)
|
rs748793953
|
0.00001
|
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=)
|
rs371692301
|
0.00001
|
NM_019616.4(F7):c.*1281G>A
|
rs192084788
|
0.00001
|
NM_019616.4(F7):c.*275G>A
|
rs886049988
|
0.00001
|
NM_019616.4(F7):c.103C>A (p.Arg35=)
|
rs886049987
|
0.00001
|
NM_019616.4(F7):c.1316T>C (p.Leu439Pro)
|
rs1370716721
|
0.00001
|
NM_019616.4(F7):c.481G>A (p.Asp161Asn)
|
rs1258691292
|
0.00001
|
NM_019616.4(F7):c.64+1016A>T
|
rs886049986
|
0.00001
|
NM_019616.4(F7):c.844G>A (p.Ala282Thr)
|
rs773627551
|
0.00001
|
NM_019616.4(F7):c.937T>C (p.Phe313Leu)
|
rs762858015
|
0.00001
|
NM_020661.4(AICDA):c.*1025G>A
|
rs1941216576
|
0.00001
|
NM_020661.4(AICDA):c.-87A>T
|
rs1941389378
|
0.00001
|
NM_020661.4(AICDA):c.29A>G (p.Lys10Arg)
|
rs768249578
|
0.00001
|
NM_021870.3(FGG):c.*494A>G
|
rs1731056413
|
0.00001
|
NM_021870.3(FGG):c.1125C>T (p.Tyr375=)
|
rs766524002
|
0.00001
|
NM_021870.3(FGG):c.502A>G (p.Thr168Ala)
|
rs141559764
|
0.00001
|
NM_021870.3(FGG):c.667-10G>C
|
rs886059155
|
0.00001
|
NM_021871.4(FGA):c.1025G>A (p.Gly342Glu)
|
rs774664670
|
0.00001
|
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg)
|
rs771429165
|
0.00001
|
NM_021871.4(FGA):c.346G>A (p.Asp116Asn)
|
rs886059153
|
0.00001
|
NM_021871.4(FGA):c.822C>T (p.Ser274=)
|
rs886059150
|
0.00001
|
NM_021871.4(FGA):c.919A>G (p.Asn307Asp)
|
rs750564329
|
0.00001
|
NM_021922.3(FANCE):c.*401G>C
|
rs886061333
|
0.00001
|
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
|
rs1236565765
|
0.00001
|
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)
|
rs886061331
|
0.00001
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)
|
rs181761362
|
0.00001
|
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)
|
rs748817910
|
0.00001
|
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)
|
rs886061329
|
0.00001
|
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)
|
rs779336261
|
0.00001
|
NM_022051.2(EGLN1):c.-1159T>C
|
rs1273579470
|
0.00001
|
NM_022051.2(EGLN1):c.-1305A>C
|
rs1656707976
|
0.00001
|
NM_022051.2(EGLN1):c.-2340A>G
|
rs886046130
|
0.00001
|
NM_022051.2(EGLN1):c.-2567C>T
|
rs193048016
|
0.00001
|
NM_022051.2(EGLN1):c.-2695A>G
|
rs886046132
|
0.00001
|
NM_022051.2(EGLN1):c.-2762C>T
|
rs886046133
|
0.00001
|
NM_022051.2(EGLN1):c.-2767G>A
|
rs886046134
|
0.00001
|
NM_022051.2(EGLN1):c.-565C>A
|
rs886046120
|
0.00001
|
NM_022051.2(EGLN1):c.-694C>T
|
rs886046122
|
0.00001
|
NM_022051.2(EGLN1):c.-720C>T
|
rs886046123
|
0.00001
|
NM_022051.2(EGLN1):c.-766T>C
|
rs1656688727
|
0.00001
|
NM_022051.2(EGLN1):c.-797C>G
|
rs886046124
|
0.00001
|
NM_022051.3(EGLN1):c.*1326T>C
|
rs1315144793
|
0.00001
|
NM_022051.3(EGLN1):c.*2491C>T
|
rs1333130258
|
0.00001
|
NM_022051.3(EGLN1):c.*650A>T
|
rs1489752896
|
0.00001
|
NM_022051.3(EGLN1):c.*796C>A
|
rs886046103
|
0.00001
|
NM_022051.3(EGLN1):c.*798C>T
|
rs886046102
|
0.00001
|
NM_022051.3(EGLN1):c.*944C>T
|
rs886046101
|
0.00001
|
NM_022051.3(EGLN1):c.-140C>T
|
rs886046114
|
0.00001
|
NM_022081.6(HPS4):c.*391G>A
|
rs886057315
|
0.00001
|
NM_022081.6(HPS4):c.-18A>G
|
rs1159855728
|
0.00001
|
NM_022081.6(HPS4):c.-523G>T
|
rs886057323
|
0.00001
|
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu)
|
rs777570870
|
0.00001
|
NM_022081.6(HPS4):c.1692C>T (p.Asp564=)
|
rs759632995
|
0.00001
|
NM_022081.6(HPS4):c.1758G>A (p.Leu586=)
|
rs1356334936
|
0.00001
|
NM_022081.6(HPS4):c.411G>A (p.Thr137=)
|
rs375462083
|
0.00001
|
NM_022081.6(HPS4):c.637G>A (p.Val213Ile)
|
rs766791829
|
0.00001
|
NM_022081.6(HPS4):c.687G>A (p.Glu229=)
|
rs758547221
|
0.00001
|
NM_022081.6(HPS4):c.765C>T (p.Ala255=)
|
rs886057318
|
0.00001
|
NM_022081.6(HPS4):c.81G>A (p.Lys27=)
|
rs763708665
|
0.00001
|
NM_022081.6(HPS4):c.930T>C (p.Asp310=)
|
rs1210344296
|
0.00001
|
NM_022081.6(HPS4):c.958G>C (p.Asp320His)
|
rs143965829
|
0.00001
|
NM_022725.4(FANCF):c.*1190C>A
|
rs750376328
|
0.00001
|
NM_022725.4(FANCF):c.*1632G>C
|
rs886048150
|
0.00001
|
NM_022725.4(FANCF):c.*328C>T
|
rs964106425
|
0.00001
|
NM_022725.4(FANCF):c.*565A>G
|
rs886048155
|
0.00001
|
NM_022725.4(FANCF):c.*782A>G
|
rs949488113
|
0.00001
|
NM_022725.4(FANCF):c.210C>T (p.Gly70=)
|
rs769740744
|
0.00001
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
|
rs1248152779
|
0.00001
|
NM_024006.6(VKORC1):c.267A>T (p.Thr89=)
|
rs200133418
|
0.00001
|
NM_024675.4(PALB2):c.-149G>A
|
rs886051832
|
0.00001
|
NM_024675.4(PALB2):c.-37C>T
|
rs1403573232
|
0.00001
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
rs730881874
|
0.00001
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
rs1282821765
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
rs911713488
|
0.00001
|
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala)
|
rs755069670
|
0.00001
|
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val)
|
rs762013198
|
0.00001
|
NM_024747.6(HPS6):c.2166C>T (p.Phe722=)
|
rs746069907
|
0.00001
|
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr)
|
rs367872565
|
0.00001
|
NM_024747.6(HPS6):c.2307G>A (p.Pro769=)
|
rs553794194
|
0.00001
|
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val)
|
rs4917959
|
0.00001
|
NM_024747.6(HPS6):c.303C>T (p.Ala101=)
|
rs952447952
|
0.00001
|
NM_024747.6(HPS6):c.831C>G (p.Pro277=)
|
rs1368416172
|
0.00001
|
NM_025215.5(PUS1):c.-457G>C
|
rs1033621386
|
0.00001
|
NM_025215.6(PUS1):c.*192T>C
|
rs930371689
|
0.00001
|
NM_025215.6(PUS1):c.-80G>A
|
rs1215451501
|
0.00001
|
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser)
|
rs886049093
|
0.00001
|
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg)
|
rs545204877
|
0.00001
|
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln)
|
rs745345996
|
0.00001
|
NM_025215.6(PUS1):c.725C>T (p.Thr242Met)
|
rs886049092
|
0.00001
|
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys)
|
rs573837941
|
0.00001
|
NM_032043.3(BRIP1):c.*1239C>A
|
rs1042958451
|
0.00001
|
NM_032043.3(BRIP1):c.*1908T>C
|
rs1264916802
|
0.00001
|
NM_032043.3(BRIP1):c.*2522A>G
|
rs886053207
|
0.00001
|
NM_032043.3(BRIP1):c.*339G>C
|
rs886053212
|
0.00001
|
NM_032043.3(BRIP1):c.*3580T>A
|
rs372023591
|
0.00001
|
NM_032043.3(BRIP1):c.*3617T>C
|
rs886053198
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)
|
rs937490699
|
0.00001
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
NM_032383.5(HPS3):c.*239G>A
|
rs886058083
|
0.00001
|
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys)
|
rs771822133
|
0.00001
|
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile)
|
rs886058078
|
0.00001
|
NM_032383.5(HPS3):c.1785A>G (p.Val595=)
|
rs150262900
|
0.00001
|
NM_032383.5(HPS3):c.2078A>G (p.His693Arg)
|
rs759772353
|
0.00001
|
NM_032383.5(HPS3):c.2699G>A (p.Arg900His)
|
rs202157837
|
0.00001
|
NM_032383.5(HPS3):c.571G>A (p.Val191Ile)
|
rs779612018
|
0.00001
|
NM_032383.5(HPS3):c.573T>C (p.Val191=)
|
rs746331416
|
0.00001
|
NM_032383.5(HPS3):c.938A>G (p.His313Arg)
|
rs910569690
|
0.00001
|
NM_032444.4(SLX4):c.*1047G>A
|
rs1485693438
|
0.00001
|
NM_032444.4(SLX4):c.*1150G>C
|
rs886051972
|
0.00001
|
NM_032444.4(SLX4):c.*73G>A
|
rs1461608259
|
0.00001
|
NM_032444.4(SLX4):c.*811G>C
|
rs371879504
|
0.00001
|
NM_032444.4(SLX4):c.*871A>G
|
rs886051974
|
0.00001
|
NM_032444.4(SLX4):c.*957C>T
|
rs886051973
|
0.00001
|
NM_032444.4(SLX4):c.-112C>A
|
rs779687936
|
0.00001
|
NM_032444.4(SLX4):c.-205G>A
|
rs937724885
|
0.00001
|
NM_032444.4(SLX4):c.-616C>T
|
rs886051988
|
0.00001
|
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe)
|
rs141167501
|
0.00001
|
NM_032444.4(SLX4):c.1163+5G>A
|
rs762454252
|
0.00001
|
NM_032444.4(SLX4):c.1324A>C (p.Arg442=)
|
rs886051980
|
0.00001
|
NM_032444.4(SLX4):c.13G>A (p.Val5Met)
|
rs750091754
|
0.00001
|
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr)
|
rs776394340
|
0.00001
|
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu)
|
rs372150541
|
0.00001
|
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile)
|
rs2040629635
|
0.00001
|
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
|
rs200715208
|
0.00001
|
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=)
|
rs746254787
|
0.00001
|
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)
|
rs1484366381
|
0.00001
|
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)
|
rs201582780
|
0.00001
|
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr)
|
rs1391353238
|
0.00001
|
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys)
|
rs771835799
|
0.00001
|
NM_032444.4(SLX4):c.3912C>T (p.Val1304=)
|
rs140254478
|
0.00001
|
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)
|
rs745595506
|
0.00001
|
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu)
|
rs770241338
|
0.00001
|
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)
|
rs373300793
|
0.00001
|
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)
|
rs775915651
|
0.00001
|
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser)
|
rs893507870
|
0.00001
|
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
|
rs763539738
|
0.00001
|
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg)
|
rs200507644
|
0.00001
|
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
|
rs1291935778
|
0.00001
|
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu)
|
rs530123827
|
0.00001
|
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser)
|
rs374876624
|
0.00001
|
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg)
|
rs778643553
|
0.00001
|
NM_032638.5(GATA2):c.*101G>A
|
rs886057926
|
0.00001
|
NM_032638.5(GATA2):c.*379C>T
|
rs1324129609
|
0.00001
|
NM_032638.5(GATA2):c.*420G>A
|
rs557984557
|
0.00001
|
NM_032638.5(GATA2):c.*84A>G
|
rs886057927
|
0.00001
|
NM_032638.5(GATA2):c.-114C>T
|
rs1283698608
|
0.00001
|
NM_032638.5(GATA2):c.1023C>T (p.Ala341=)
|
rs376360090
|
0.00001
|
NM_032638.5(GATA2):c.1230G>T (p.Gly410=)
|
rs1461907039
|
0.00001
|
NM_032638.5(GATA2):c.1326C>T (p.His442=)
|
rs886057929
|
0.00001
|
NM_032638.5(GATA2):c.204G>T (p.Ala68=)
|
rs886057932
|
0.00001
|
NM_032638.5(GATA2):c.724A>G (p.Thr242Ala)
|
rs886057931
|
0.00001
|
NM_032638.5(GATA2):c.999C>T (p.Ile333=)
|
rs886072363
|
0.00001
|
NM_032844.4(MASTL):c.-601T>A
|
rs886046952
|
0.00001
|
NM_033022.4(RPS24):c.3+7C>T
|
rs759947869
|
0.00001
|
NM_052945.4(TNFRSF13C):c.165G>A (p.Thr55=)
|
rs886057590
|
0.00001
|
NM_052945.4(TNFRSF13C):c.288G>A (p.Val96=)
|
rs755167957
|
0.00001
|
NM_052945.4(TNFRSF13C):c.347C>T (p.Ala116Val)
|
rs886057588
|
0.00001
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
NM_080669.6(SLC46A1):c.*1220A>G
|
rs886052748
|
0.00001
|
NM_080669.6(SLC46A1):c.*129C>T
|
rs886052752
|
0.00001
|
NM_080669.6(SLC46A1):c.*1521G>A
|
rs988138947
|
0.00001
|
NM_080669.6(SLC46A1):c.*2027C>A
|
rs149579635
|
0.00001
|
NM_080669.6(SLC46A1):c.*2808G>C
|
rs886052744
|
0.00001
|
NM_080669.6(SLC46A1):c.*3789C>A
|
rs886052740
|
0.00001
|
NM_080669.6(SLC46A1):c.*4158G>A
|
rs1216449496
|
0.00001
|
NM_080669.6(SLC46A1):c.*4320A>G
|
rs528235797
|
0.00001
|
NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu)
|
rs886052754
|
0.00001
|
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser)
|
rs374179004
|
0.00001
|
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=)
|
rs782480845
|
0.00001
|
NM_080911.3(UNG):c.*2C>A
|
rs767818599
|
0.00001
|
NM_080911.3(UNG):c.*655A>C
|
rs775022596
|
0.00001
|
NM_080911.3(UNG):c.-73C>T
|
rs886048904
|
0.00001
|
NM_080911.3(UNG):c.231C>G (p.Asn77Lys)
|
rs762261195
|
0.00001
|
NM_080911.3(UNG):c.623-9T>A
|
rs745983593
|
0.00001
|
NM_080911.3(UNG):c.65C>T (p.Pro22Leu)
|
rs373668102
|
0.00001
|
NM_080911.3(UNG):c.6C>A (p.Ile2=)
|
rs886048905
|
0.00001
|
NM_080911.3(UNG):c.812A>G (p.His271Arg)
|
rs147460908
|
0.00001
|
NM_080911.3(UNG):c.86A>C (p.Gln29Pro)
|
rs765512122
|
0.00001
|
NM_138387.4(G6PC3):c.-149G>A
|
rs1567967341
|
0.00001
|
NM_138387.4(G6PC3):c.-48G>A
|
rs746461072
|
0.00001
|
NM_138477.4(CDAN1):c.*58G>A
|
rs567117839
|
0.00001
|
NM_138477.4(CDAN1):c.*753C>T
|
rs1011188304
|
0.00001
|
NM_138477.4(CDAN1):c.-4C>G
|
rs776319103
|
0.00001
|
NM_138477.4(CDAN1):c.1203C>T (p.Phe401=)
|
rs2061657466
|
0.00001
|
NM_138477.4(CDAN1):c.1242G>C (p.Glu414Asp)
|
rs1470472984
|
0.00001
|
NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu)
|
rs755117251
|
0.00001
|
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=)
|
rs199776068
|
0.00001
|
NM_138477.4(CDAN1):c.2262+10G>A
|
rs1338899431
|
0.00001
|
NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter)
|
rs144546360
|
0.00001
|
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu)
|
rs370476233
|
0.00001
|
NM_138477.4(CDAN1):c.2587C>T (p.Arg863Cys)
|
rs768892869
|
0.00001
|
NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg)
|
rs745824109
|
0.00001
|
NM_138477.4(CDAN1):c.2872C>T (p.Leu958=)
|
rs764432820
|
0.00001
|
NM_138477.4(CDAN1):c.3268G>C (p.Val1090Leu)
|
rs559053820
|
0.00001
|
NM_138477.4(CDAN1):c.3559-11A>G
|
rs375128684
|
0.00001
|
NM_138477.4(CDAN1):c.3648G>A (p.Val1216=)
|
rs138934554
|
0.00001
|
NM_138477.4(CDAN1):c.392G>A (p.Arg131His)
|
rs1165157914
|
0.00001
|
NM_138477.4(CDAN1):c.569+9C>G
|
rs778283367
|
0.00001
|
NM_139027.6(ADAMTS13):c.1518C>A (p.Thr506=)
|
rs782315134
|
0.00001
|
NM_139027.6(ADAMTS13):c.1706-4C>T
|
rs967189107
|
0.00001
|
NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=)
|
rs781945326
|
0.00001
|
NM_139027.6(ADAMTS13):c.1930C>T (p.Arg644Cys)
|
rs782659882
|
0.00001
|
NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)
|
rs367627378
|
0.00001
|
NM_139027.6(ADAMTS13):c.2732-8C>T
|
rs886063634
|
0.00001
|
NM_139027.6(ADAMTS13):c.2912T>C (p.Val971Ala)
|
rs978677428
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+136T>A
|
rs782166349
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+17G>T
|
rs782724202
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+19C>T
|
rs781785040
|
0.00001
|
NM_139027.6(ADAMTS13):c.3400+32C>T
|
rs1554795505
|
0.00001
|
NM_139027.6(ADAMTS13):c.3941C>T (p.Ala1314Val)
|
rs782145338
|
0.00001
|
NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=)
|
rs1393965473
|
0.00001
|
NM_139276.3(STAT3):c.*1011A>G
|
rs1321545484
|
0.00001
|
NM_139276.3(STAT3):c.*594G>A
|
rs1405453923
|
0.00001
|
NM_139276.3(STAT3):c.-162A>G
|
rs886052945
|
0.00001
|
NM_139276.3(STAT3):c.-55C>G
|
rs886052944
|
0.00001
|
NM_139276.3(STAT3):c.1050G>A (p.Arg350=)
|
rs771738153
|
0.00001
|
NM_139276.3(STAT3):c.657T>C (p.Ser219=)
|
rs886052943
|
0.00001
|
NM_139279.6(MCFD2):c.*1024C>T
|
rs1668136066
|
0.00001
|
NM_139279.6(MCFD2):c.*1079C>T
|
rs980914930
|
0.00001
|
NM_139279.6(MCFD2):c.*1316G>T
|
rs1301628664
|
0.00001
|
NM_139279.6(MCFD2):c.*1448G>A
|
rs1041505834
|
0.00001
|
NM_139279.6(MCFD2):c.*1537G>C
|
rs1280227531
|
0.00001
|
NM_139279.6(MCFD2):c.*1610A>T
|
rs1668107899
|
0.00001
|
NM_139279.6(MCFD2):c.*173G>T
|
rs886056116
|
0.00001
|
NM_139279.6(MCFD2):c.*2647A>C
|
rs374313566
|
0.00001
|
NM_139279.6(MCFD2):c.*2760G>T
|
rs1403622431
|
0.00001
|
NM_139279.6(MCFD2):c.*2789G>C
|
rs886056108
|
0.00001
|
NM_139279.6(MCFD2):c.*648C>T
|
rs1468272258
|
0.00001
|
NM_139279.6(MCFD2):c.138G>A (p.Val46=)
|
rs766859640
|
0.00001
|
NM_139279.6(MCFD2):c.236T>C (p.Met79Thr)
|
rs886056118
|
0.00001
|
NM_139279.6(MCFD2):c.321A>G (p.Glu107=)
|
rs1322883135
|
0.00001
|
NM_139279.6(MCFD2):c.363A>G (p.Ile121Met)
|
rs768388209
|
0.00001
|
NM_152564.5(VPS13B):c.*1037C>A
|
rs1246944981
|
0.00001
|
NM_152564.5(VPS13B):c.*1239C>T
|
rs1817725052
|
0.00001
|
NM_152564.5(VPS13B):c.*438C>T
|
rs1412435648
|
0.00001
|
NM_152564.5(VPS13B):c.*665T>C
|
rs1326591170
|
0.00001
|
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn)
|
rs759636784
|
0.00001
|
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu)
|
rs368041601
|
0.00001
|
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser)
|
rs79324124
|
0.00001
|
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe)
|
rs761972356
|
0.00001
|
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)
|
rs757726642
|
0.00001
|
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His)
|
rs748531719
|
0.00001
|
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile)
|
rs752506829
|
0.00001
|
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp)
|
rs886062536
|
0.00001
|
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His)
|
rs756072319
|
0.00001
|
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu)
|
rs886062537
|
0.00001
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln)
|
rs1279523650
|
0.00001
|
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser)
|
rs757950339
|
0.00001
|
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile)
|
rs770669224
|
0.00001
|
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val)
|
rs187596259
|
0.00001
|
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr)
|
rs146540735
|
0.00001
|
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile)
|
rs771916272
|
0.00001
|
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser)
|
rs770738729
|
0.00001
|
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro)
|
rs1366756885
|
0.00001
|
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=)
|
rs774730061
|
0.00001
|
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr)
|
rs747340772
|
0.00001
|
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe)
|
rs1001219779
|
0.00001
|
NM_152564.5(VPS13B):c.6866-14C>A
|
rs1277958075
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg)
|
rs778935189
|
0.00001
|
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val)
|
rs1451188144
|
0.00001
|
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=)
|
rs981350121
|
0.00001
|
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg)
|
rs760112876
|
0.00001
|
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)
|
rs370701337
|
0.00001
|
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met)
|
rs1297641779
|
0.00001
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=)
|
rs753530965
|
0.00001
|
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=)
|
rs78277780
|
0.00001
|
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)
|
rs564362618
|
0.00001
|
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys)
|
rs756531043
|
0.00001
|
NM_172351.3(CD46):c.*1146G>C
|
rs914566029
|
0.00001
|
NM_172351.3(CD46):c.*1613C>T
|
rs908893859
|
0.00001
|
NM_172351.3(CD46):c.*1888C>T
|
rs886045846
|
0.00001
|
NM_172351.3(CD46):c.*1963C>T
|
rs886045847
|
0.00001
|
NM_172351.3(CD46):c.*920A>G
|
rs886045841
|
0.00001
|
NM_172351.3(CD46):c.-10C>T
|
rs931567100
|
0.00001
|
NM_172351.3(CD46):c.1018+7A>G
|
rs771467005
|
0.00001
|
NM_172351.3(CD46):c.118A>G (p.Thr40Ala)
|
rs753924720
|
0.00001
|
NM_172351.3(CD46):c.586G>C (p.Gly196Arg)
|
rs1656188708
|
0.00001
|
NM_172351.3(CD46):c.857-185T>C
|
rs376519984
|
0.00001
|
NM_172351.3(CD46):c.860C>T (p.Ser287Leu)
|
rs751860518
|
0.00001
|
NM_172351.3(CD46):c.901+9A>G
|
rs370112627
|
0.00001
|
NM_173842.3(IL1RN):c.*1040G>A
|
rs886054777
|
0.00001
|
NM_173842.3(IL1RN):c.*130C>T
|
rs541642811
|
0.00001
|
NM_173842.3(IL1RN):c.*165C>T
|
rs886054773
|
0.00001
|
NM_173842.3(IL1RN):c.*245G>A
|
rs886054774
|
0.00001
|
NM_173842.3(IL1RN):c.*601C>G
|
rs572782935
|
0.00001
|
NM_181507.1(HPS5):c.-263A>G
|
rs886048086
|
0.00001
|
NM_181507.2(HPS5):c.*1023T>G
|
rs886048069
|
0.00001
|
NM_181507.2(HPS5):c.*276T>G
|
rs146958457
|
0.00001
|
NM_181507.2(HPS5):c.*469A>G
|
rs1858594870
|
0.00001
|
NM_181507.2(HPS5):c.*839T>C
|
rs537810532
|
0.00001
|
NM_181507.2(HPS5):c.-195A>G
|
rs533200717
|
0.00001
|
NM_181507.2(HPS5):c.-197C>T
|
rs886048085
|
0.00001
|
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)
|
rs747748271
|
0.00001
|
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln)
|
rs190883305
|
0.00001
|
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val)
|
rs370396275
|
0.00001
|
NM_181507.2(HPS5):c.1803T>C (p.Thr601=)
|
rs762327635
|
0.00001
|
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile)
|
rs190221223
|
0.00001
|
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg)
|
rs763599072
|
0.00001
|
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp)
|
rs775281184
|
0.00001
|
NM_181507.2(HPS5):c.2838-13T>C
|
rs377293025
|
0.00001
|
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met)
|
rs369368194
|
0.00001
|
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr)
|
rs886048075
|
0.00001
|
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)
|
rs773390398
|
0.00001
|
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=)
|
rs868410563
|
0.00001
|
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)
|
rs974587263
|
0.00001
|
NM_181507.2(HPS5):c.825-14del
|
rs886048082
|
0.00001
|
NM_183235.3(RAB27A):c.*1598A>G
|
rs565137216
|
0.00001
|
NM_183235.3(RAB27A):c.*1915A>T
|
rs1192254377
|
0.00001
|
NM_183235.3(RAB27A):c.*2031C>T
|
rs1300772256
|
0.00001
|
NM_183235.3(RAB27A):c.*730T>C
|
rs886051310
|
0.00001
|
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg)
|
rs746081723
|
0.00001
|
NM_198253.3(TERT):c.*339T>C
|
rs920370048
|
0.00001
|
NM_198253.3(TERT):c.189G>A (p.Arg63=)
|
rs1554043134
|
0.00001
|
NM_198253.3(TERT):c.1939A>C (p.Arg647=)
|
rs144821759
|
0.00001
|
NM_198253.3(TERT):c.2781A>G (p.Leu927=)
|
rs370292237
|
0.00001
|
NM_198253.3(TERT):c.3101G>A (p.Arg1034His)
|
rs62331332
|
0.00001
|
NM_198253.3(TERT):c.880C>T (p.His294Tyr)
|
rs886059906
|
0.00001
|
NM_203447.4(DOCK8):c.*603T>C
|
rs886063984
|
0.00001
|
NM_203447.4(DOCK8):c.-100T>A
|
rs886063778
|
0.00001
|
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn)
|
rs374938180
|
0.00001
|
NM_203447.4(DOCK8):c.156+7A>G
|
rs991177118
|
0.00001
|
NM_203447.4(DOCK8):c.1649G>A (p.Arg550Gln)
|
rs886063879
|
0.00001
|
NM_203447.4(DOCK8):c.1732T>G (p.Ser578Ala)
|
rs764950936
|
0.00001
|
NM_203447.4(DOCK8):c.2713A>T (p.Asn905Tyr)
|
rs1407788035
|
0.00001
|
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val)
|
rs886063779
|
0.00001
|
NM_203447.4(DOCK8):c.4252G>A (p.Glu1418Lys)
|
rs764918764
|
0.00001
|
NM_203447.4(DOCK8):c.447A>G (p.Gly149=)
|
rs763034264
|
0.00001
|
NM_203447.4(DOCK8):c.4497G>A (p.Glu1499=)
|
rs886063957
|
0.00001
|
NM_203447.4(DOCK8):c.4785+8G>A
|
rs759399965
|
0.00001
|
NM_203447.4(DOCK8):c.492G>C (p.Glu164Asp)
|
rs772188486
|
0.00001
|
NM_203447.4(DOCK8):c.5221A>G (p.Thr1741Ala)
|
rs943721536
|
0.00001
|
NM_203447.4(DOCK8):c.5288G>A (p.Arg1763Gln)
|
rs751622919
|
0.00001
|
NM_203447.4(DOCK8):c.529-10T>C
|
rs757276569
|
0.00001
|
NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser)
|
rs766493394
|
0.00001
|
NM_203447.4(DOCK8):c.5904T>A (p.Pro1968=)
|
rs182402358
|
0.00001
|
NM_203447.4(DOCK8):c.828-15C>G
|
rs773615177
|
0.00001
|
NC_000013.11:g.32315487G>T
|
rs1036870835
|
|
NM_000032.5(ALAS2):c.-16+6A>G
|
rs1935989193
|
|
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)
|
|
|
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
|
rs1602244633
|
|
NM_000032.5(ALAS2):c.741C>T (p.His247=)
|
rs1057515971
|
|
NM_000037.4(ANK1):c.*1062T>G
|
rs886062934
|
|
NM_000037.4(ANK1):c.*1242G>T
|
rs886062932
|
|
NM_000037.4(ANK1):c.*1250A>G
|
rs1805075039
|
|
NM_000037.4(ANK1):c.*1424C>T
|
rs1312631766
|
|
NM_000037.4(ANK1):c.*1474C>T
|
rs1805004224
|
|
NM_000037.4(ANK1):c.*1590G>A
|
rs572470025
|
|
NM_000037.4(ANK1):c.*1808A>G
|
rs1462339318
|
|
NM_000037.4(ANK1):c.*1858A>C
|
rs372070501
|
|
NM_000037.4(ANK1):c.*1880C>A
|
rs1238270293
|
|
NM_000037.4(ANK1):c.*1892G>T
|
rs116365681
|
|
NM_000037.4(ANK1):c.*2409C>T
|
rs951243751
|
|
NM_000037.4(ANK1):c.*378T>G
|
rs1805325198
|
|
NM_000037.4(ANK1):c.*437A>C
|
rs1475025499
|
|
NM_000037.4(ANK1):c.*651A>C
|
rs886062936
|
|
NM_000037.4(ANK1):c.*822G>A
|
rs1805185515
|
|
NM_000037.4(ANK1):c.-63A>G
|
rs1849016140
|
|
NM_000037.4(ANK1):c.1050C>T (p.His350=)
|
rs1828761369
|
|
NM_000037.4(ANK1):c.1131C>A (p.Ile377=)
|
rs373336198
|
|
NM_000037.4(ANK1):c.1179G>A (p.Thr393=)
|
rs886062941
|
|
NM_000037.4(ANK1):c.1404+15C>A
|
rs201598401
|
|
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu)
|
rs753931863
|
|
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=)
|
rs374102892
|
|
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val)
|
rs1228458158
|
|
NM_000037.4(ANK1):c.3985-10T>C
|
rs886062940
|
|
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr)
|
rs764226906
|
|
NM_000037.4(ANK1):c.4497C>T (p.His1499=)
|
rs370037242
|
|
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=)
|
rs886062938
|
|
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=)
|
rs184665931
|
|
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro)
|
rs1829705168
|
|
NM_000037.4(ANK1):c.964C>A (p.Arg322=)
|
rs770743762
|
|
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)
|
rs183864227
|
|
NM_000037.4(ANK1):c.985G>T (p.Ala329Ser)
|
rs746138074
|
|
NM_000057.4(BLM):c.-33G>C
|
rs938444227
|
|
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr)
|
rs746602812
|
|
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)
|
rs760554566
|
|
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)
|
rs886051552
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
NM_000057.4(BLM):c.436G>C (p.Asp146His)
|
rs1895616204
|
|
NM_000059.3(BRCA2):c.-210A>G
|
rs886050111
|
|
NM_000059.4(BRCA2):c.*292A>C
|
rs886050112
|
|
NM_000059.4(BRCA2):c.*360dup
|
rs886050114
|
|
NM_000059.4(BRCA2):c.*399T>C
|
rs886050115
|
|
NM_000059.4(BRCA2):c.*416G>T
|
rs886050116
|
|
NM_000059.4(BRCA2):c.*675C>A
|
rs886050117
|
|
NM_000059.4(BRCA2):c.*696G>A
|
rs886050118
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)
|
rs1593892275
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)
|
rs768169574
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)
|
rs2072286770
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)
|
rs770778164
|
|
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)
|
rs864622476
|
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)
|
rs747903103
|
|
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)
|
rs876660471
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)
|
rs770664957
|
|
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)
|
rs80358781
|
|
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)
|
rs1401654517
|
|
NM_000059.4(BRCA2):c.561G>A (p.Glu187=)
|
rs754678843
|
|
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)
|
rs80358818
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
NM_000059.4(BRCA2):c.632-3C>T
|
rs568027879
|
|
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)
|
rs398122563
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
NM_000059.4(BRCA2):c.7034A>G (p.Gln2345Arg)
|
rs876661187
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7435+10G>A
|
rs81002793
|
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
rs80358969
|
|
NM_000059.4(BRCA2):c.844C>G (p.His282Asp)
|
rs768605944
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.942A>G (p.Lys314=)
|
rs1384322636
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu)
|
rs2073050616
|
|
NM_000061.3(BTK):c.-87C>T
|
rs1927601892
|
|
NM_000064.3(C3):c.-75A>C
|
rs1316357912
|
|
NM_000064.4(C3):c.1269+14C>A
|
rs886054655
|
|
NM_000064.4(C3):c.1686+10C>T
|
rs776885748
|
|
NM_000064.4(C3):c.1725T>C (p.Pro575=)
|
rs1967865144
|
|
NM_000064.4(C3):c.2390A>C (p.Asp797Ala)
|
rs1967690681
|
|
NM_000064.4(C3):c.2429C>T (p.Ser810Leu)
|
rs781280055
|
|
NM_000064.4(C3):c.2584G>T (p.Val862Leu)
|
rs1967565745
|
|
NM_000064.4(C3):c.2617T>C (p.Cys873Arg)
|
rs1967565177
|
|
NM_000064.4(C3):c.267+9A>G
|
rs762058420
|
|
NM_000064.4(C3):c.2670C>G (p.Pro890=)
|
rs137956083
|
|
NM_000064.4(C3):c.2700C>G (p.Ile900Met)
|
rs763155610
|
|
NM_000064.4(C3):c.2857G>A (p.Gly953Ser)
|
rs779124363
|
|
NM_000064.4(C3):c.2863+15G>T
|
rs759976981
|
|
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)
|
rs1918144043
|
|
NM_000064.4(C3):c.3586C>T (p.Leu1196=)
|
rs1918019867
|
|
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser)
|
rs1918001974
|
|
NM_000064.4(C3):c.4120+8G>T
|
rs886054652
|
|
NM_000064.4(C3):c.453C>T (p.Thr151=)
|
rs148870667
|
|
NM_000064.4(C3):c.819C>T (p.Phe273=)
|
rs886054656
|
|
NM_000081.4(LYST):c.*1211G>A
|
|
|
NM_000081.4(LYST):c.*1295T>C
|
|
|
NM_000081.4(LYST):c.*1356G>T
|
|
|
NM_000081.4(LYST):c.*1379G>C
|
|
|
NM_000081.4(LYST):c.*1428T>G
|
|
|
NM_000081.4(LYST):c.*1438C>T
|
|
|
NM_000081.4(LYST):c.*1533G>A
|
|
|
NM_000081.4(LYST):c.*1792A>G
|
|
|
NM_000081.4(LYST):c.*1831A>C
|
|
|
NM_000081.4(LYST):c.*1861C>A
|
|
|
NM_000081.4(LYST):c.*191T>C
|
|
|
NM_000081.4(LYST):c.*246C>T
|
|
|
NM_000081.4(LYST):c.*247G>T
|
|
|
NM_000081.4(LYST):c.*275A>T
|
|
|
NM_000081.4(LYST):c.*319C>G
|
|
|
NM_000081.4(LYST):c.*329A>G
|
|
|
NM_000081.4(LYST):c.*519C>T
|
|
|
NM_000081.4(LYST):c.*5G>A
|
|
|
NM_000081.4(LYST):c.*694T>C
|
|
|
NM_000081.4(LYST):c.*712T>C
|
|
|
NM_000081.4(LYST):c.*809A>G
|
|
|
NM_000081.4(LYST):c.*824A>G
|
|
|
NM_000081.4(LYST):c.*831A>G
|
|
|
NM_000081.4(LYST):c.*873G>C
|
|
|
NM_000081.4(LYST):c.*891G>C
|
|
|
NM_000081.4(LYST):c.*907G>A
|
|
|
NM_000081.4(LYST):c.*921C>T
|
|
|
NM_000081.4(LYST):c.*94A>G
|
|
|
NM_000081.4(LYST):c.*962G>A
|
|
|
NM_000081.4(LYST):c.-131G>C
|
|
|
NM_000081.4(LYST):c.-134G>A
|
|
|
NM_000081.4(LYST):c.-136G>A
|
|
|
NM_000081.4(LYST):c.-139G>A
|
|
|
NM_000081.4(LYST):c.-140G>C
|
|
|
NM_000081.4(LYST):c.-142C>T
|
|
|
NM_000081.4(LYST):c.-97-13dup
|
|
|
NM_000081.4(LYST):c.-97-9T>G
|
|
|
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
|
|
|
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
|
|
|
NM_000081.4(LYST):c.10414T>C (p.Tyr3472His)
|
|
|
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
|
|
|
NM_000081.4(LYST):c.10657A>G (p.Ser3553Gly)
|
|
|
NM_000081.4(LYST):c.10707T>C (p.Thr3569=)
|
|
|
NM_000081.4(LYST):c.10733G>T (p.Cys3578Phe)
|
|
|
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
|
|
|
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
|
|
|
NM_000081.4(LYST):c.10940+11A>T
|
|
|
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
|
|
|
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
|
|
|
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
|
|
|
NM_000081.4(LYST):c.11196-15T>G
|
|
|
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
|
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
NM_000081.4(LYST):c.1275C>G (p.Tyr425Ter)
|
|
|
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
|
|
|
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
|
|
|
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
|
|
|
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
|
|
|
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
|
|
|
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
|
|
|
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
|
|
|
NM_000081.4(LYST):c.193-3T>C
|
|
|
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
|
|
|
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
|
|
|
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
|
|
|
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
|
|
|
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
|
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
|
|
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
|
|
|
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
|
|
|
NM_000081.4(LYST):c.244C>T (p.Leu82=)
|
|
|
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
|
|
|
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
|
|
|
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
|
|
|
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
|
|
|
NM_000081.4(LYST):c.2687A>G (p.Asn896Ser)
|
|
|
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
|
|
|
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
|
|
|
NM_000081.4(LYST):c.280A>G (p.Thr94Ala)
|
|
|
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
|
|
|
NM_000081.4(LYST):c.3160A>G (p.Ser1054Gly)
|
|
|
NM_000081.4(LYST):c.3167A>C (p.Lys1056Thr)
|
|
|
NM_000081.4(LYST):c.3278G>A (p.Ser1093Asn)
|
|
|
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
|
|
|
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
|
|
|
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
|
|
|
NM_000081.4(LYST):c.3712+12T>C
|
|
|
NM_000081.4(LYST):c.372A>G (p.Leu124=)
|
|
|
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
|
|
|
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
|
|
|
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
|
|
|
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
|
|
|
NM_000081.4(LYST):c.5071C>T (p.Pro1691Ser)
|
|
|
NM_000081.4(LYST):c.5461-14A>T
|
|
|
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
|
|
|
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
|
|
|
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
|
|
|
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
|
|
|
NM_000081.4(LYST):c.600C>T (p.His200=)
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
|
|
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
|
|
|
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
|
|
|
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
|
|
|
NM_000081.4(LYST):c.643C>T (p.Pro215Ser)
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
|
|
|
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
|
|
|
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
|
|
|
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
|
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
|
|
|
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
|
|
|
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
|
|
|
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
|
|
|
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
|
|
|
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
|
|
|
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
|
|
|
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
|
|
|
NM_000081.4(LYST):c.7506A>C (p.Gln2502His)
|
|
|
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
|
|
|
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
|
|
|
NM_000081.4(LYST):c.8152-8G>A
|
|
|
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
|
|
|
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
|
|
|
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
|
|
|
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
|
|
|
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
|
|
|
NM_000081.4(LYST):c.8535+7C>T
|
|
|
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
|
|
|
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
|
|
|
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
|
|
|
NM_000081.4(LYST):c.8801+15G>C
|
|
|
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
|
|
|
NM_000081.4(LYST):c.9162+15A>G
|
|
|
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
|
|
|
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
|
|
|
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
|
|
|
NM_000081.4(LYST):c.9542A>G (p.Asn3181Ser)
|
|
|
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
|
|
|
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
|
|
|
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
|
|
|
NM_000081.4(LYST):c.9969C>T (p.His3323=)
|
|
|
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
|
|
|
NM_000096.4(CP):c.*1007T>A
|
rs36120450
|
|
NM_000096.4(CP):c.*373C>T
|
rs370247691
|
|
NM_000096.4(CP):c.*536G>C
|
rs1725167347
|
|
NM_000096.4(CP):c.*583T>C
|
rs886058084
|
|
NM_000096.4(CP):c.1199C>A (p.Ala400Glu)
|
rs1446212124
|
|
NM_000096.4(CP):c.1774C>G (p.Leu592Val)
|
rs200226362
|
|
NM_000096.4(CP):c.1774C>T (p.Leu592Phe)
|
rs200226362
|
|
NM_000096.4(CP):c.1864+1G>C
|
rs1559942361
|
|
NM_000096.4(CP):c.1973T>C (p.Ile658Thr)
|
rs1726190460
|
|
NM_000096.4(CP):c.2268T>C (p.His756=)
|
rs765341479
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000096.4(CP):c.2496C>T (p.Tyr832=)
|
rs1199272207
|
|
NM_000096.4(CP):c.2557G>A (p.Glu853Lys)
|
rs886058086
|
|
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr)
|
rs570400135
|
|
NM_000096.4(CP):c.508G>A (p.Gly170Arg)
|
rs886058089
|
|
NM_000096.4(CP):c.701A>G (p.Asp234Gly)
|
rs769311718
|
|
NM_000096.4(CP):c.850T>C (p.Tyr284His)
|
rs886058088
|
|
NM_000096.4(CP):c.921G>A (p.Lys307=)
|
rs543777038
|
|
NM_000116.5(TAFAZZIN):c.*165T>A
|
rs2068620449
|
|
NM_000116.5(TAFAZZIN):c.*387C>T
|
rs1057515819
|
|
NM_000116.5(TAFAZZIN):c.*648A>C
|
rs1413243483
|
|
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
|
rs2068313278
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000116.5(TAFAZZIN):c.647-6C>T
|
rs901353067
|
|
NM_000121.4(EPOR):c.*186_*187dup
|
rs528356712
|
|
NM_000121.4(EPOR):c.*619C>T
|
rs886054191
|
|
NM_000121.4(EPOR):c.*776A>G
|
rs553452571
|
|
NM_000121.4(EPOR):c.-8G>T
|
rs886054193
|
|
NM_000121.4(EPOR):c.-9G>A
|
rs1358532565
|
|
NM_000121.4(EPOR):c.1287G>A (p.Leu429=)
|
rs1968309037
|
|
NM_000121.4(EPOR):c.335C>T (p.Ala112Val)
|
rs373833534
|
|
NM_000121.4(EPOR):c.388G>A (p.Ala130Thr)
|
rs750556052
|
|
NM_000121.4(EPOR):c.558C>A (p.Ala186=)
|
rs377322757
|
|
NM_000121.4(EPOR):c.559G>T (p.Gly187Cys)
|
rs775215856
|
|
NM_000121.4(EPOR):c.663C>T (p.Arg221=)
|
rs747618605
|
|
NM_000121.4(EPOR):c.864C>T (p.Ser288=)
|
rs886054192
|
|
NM_000121.4(EPOR):c.901A>G (p.Lys301Glu)
|
rs1968317522
|
|
NM_000128.3(F11):c.-164G>A
|
rs1739485056
|
|
NM_000128.3(F11):c.-233C>T
|
rs1263431242
|
|
NM_000128.3(F11):c.-300C>T
|
rs886059296
|
|
NM_000128.4(F11):c.*1039G>A
|
rs1741449262
|
|
NM_000128.4(F11):c.*174C>T
|
rs1741399736
|
|
NM_000128.4(F11):c.*262A>G
|
rs886059300
|
|
NM_000128.4(F11):c.*445C>T
|
rs1741414677
|
|
NM_000128.4(F11):c.*609C>A
|
rs938214207
|
|
NM_000128.4(F11):c.*636A>G
|
rs886059302
|
|
NM_000128.4(F11):c.*933C>G
|
rs982607401
|
|
NM_000128.4(F11):c.*974ATT[1]
|
rs886059304
|
|
NM_000128.4(F11):c.1481-1G>T
|
rs1057516506
|
|
NM_000128.4(F11):c.1777A>G (p.Thr593Ala)
|
rs1741382224
|
|
NM_000129.3(F13A1):c.-95C>G
|
rs192331652
|
|
NM_000129.4(F13A1):c.*102G>A
|
rs541596469
|
|
NM_000129.4(F13A1):c.*1135G>A
|
rs933569768
|
|
NM_000129.4(F13A1):c.*1167T>G
|
rs886061655
|
|
NM_000129.4(F13A1):c.*1455G>C
|
rs1760234417
|
|
NM_000129.4(F13A1):c.*417G>T
|
rs886061658
|
|
NM_000129.4(F13A1):c.*428C>A
|
rs138139907
|
|
NM_000129.4(F13A1):c.*42G>A
|
rs886061659
|
|
NM_000129.4(F13A1):c.1731G>C (p.Thr577=)
|
rs137945179
|
|
NM_000129.4(F13A1):c.1998A>G (p.Val666=)
|
rs1760383595
|
|
NM_000129.4(F13A1):c.327C>T (p.Tyr109=)
|
rs886061661
|
|
NM_000129.4(F13A1):c.476G>A (p.Arg159His)
|
rs747218826
|
|
NM_000129.4(F13A1):c.542C>T (p.Thr181Met)
|
rs768849968
|
|
NM_000129.4(F13A1):c.680G>A (p.Ser227Asn)
|
rs1757621165
|
|
NM_000129.4(F13A1):c.782G>A (p.Arg261His)
|
rs121913071
|
|
NM_000129.4(F13A1):c.990A>T (p.Gly330=)
|
rs886061660
|
|
NM_000130.4(F5):c.-110C>A
|
rs886045552
|
|
NM_000130.5(F5):c.*104A>C
|
rs886045540
|
|
NM_000130.5(F5):c.*1301A>T
|
rs1557902119
|
|
NM_000130.5(F5):c.*1531C>T
|
rs1659060074
|
|
NM_000130.5(F5):c.*157A>T
|
rs886045539
|
|
NM_000130.5(F5):c.*1699G>T
|
rs537882111
|
|
NM_000130.5(F5):c.*1939T>C
|
rs886045535
|
|
NM_000130.5(F5):c.*2148C>T
|
rs369159875
|
|
NM_000130.5(F5):c.*2351C>A
|
rs542773186
|
|
NM_000130.5(F5):c.*366A>G
|
rs1659095114
|
|
NM_000130.5(F5):c.*400C>G
|
rs886045537
|
|
NM_000130.5(F5):c.111T>A (p.Ala37=)
|
rs537081933
|
|
NM_000130.5(F5):c.1340C>G (p.Pro447Arg)
|
rs368387623
|
|
NM_000130.5(F5):c.1546G>T (p.Ala516Ser)
|
rs916286148
|
|
NM_000130.5(F5):c.2042A>G (p.Asp681Gly)
|
rs886045550
|
|
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)
|
rs575766548
|
|
NM_000130.5(F5):c.3261C>G (p.Pro1087=)
|
rs886045549
|
|
NM_000130.5(F5):c.3269A>G (p.Asp1090Gly)
|
rs1659859528
|
|
NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr)
|
rs886045548
|
|
NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr)
|
rs188882337
|
|
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala)
|
rs543751483
|
|
NM_000130.5(F5):c.3691A>C (p.Ile1231Leu)
|
rs1338927825
|
|
NM_000130.5(F5):c.374G>A (p.Gly125Asp)
|
rs760694648
|
|
NM_000130.5(F5):c.3865T>C (p.Phe1289Leu)
|
rs781371990
|
|
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu)
|
rs112331368
|
|
NM_000130.5(F5):c.4000T>C (p.Phe1334Leu)
|
rs147741798
|
|
NM_000130.5(F5):c.4013A>C (p.Asn1338Thr)
|
rs1418336095
|
|
NM_000130.5(F5):c.4082C>T (p.Pro1361Leu)
|
rs200676405
|
|
NM_000130.5(F5):c.4172T>C (p.Met1391Thr)
|
rs771458343
|
|
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg)
|
rs751749207
|
|
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu)
|
rs886045546
|
|
NM_000130.5(F5):c.5144G>A (p.Arg1715Gln)
|
rs1194089741
|
|
NM_000130.5(F5):c.5209-12_5209-11del
|
rs886045545
|
|
NM_000130.5(F5):c.522C>T (p.Ser174=)
|
rs777533725
|
|
NM_000130.5(F5):c.5308G>A (p.Val1770Ile)
|
rs374815777
|
|
NM_000130.5(F5):c.5419+11C>G
|
rs6008
|
|
NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)
|
rs1557908012
|
|
NM_000130.5(F5):c.5721T>C (p.Cys1907=)
|
rs886045543
|
|
NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)
|
rs1659399281
|
|
NM_000130.5(F5):c.5789-7A>C
|
rs1659369778
|
|
NM_000130.5(F5):c.6629A>T (p.Gln2210Leu)
|
rs886045541
|
|
NM_000132.4(F8):c.*1017C>A
|
rs1603430909
|
|
NM_000132.4(F8):c.*176G>A
|
rs2072481964
|
|
NM_000132.4(F8):c.*862A>G
|
rs1057515824
|
|
NM_000132.4(F8):c.*908T>G
|
rs2072478087
|
|
NM_000132.4(F8):c.1830A>G (p.Ile610Met)
|
rs931279960
|
|
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)
|
rs373079141
|
|
NM_000132.4(F8):c.793A>G (p.Ile265Val)
|
rs2073445187
|
|
NM_000133.4(F9):c.1332T>C (p.Tyr444=)
|
rs1928132545
|
|
NM_000133.4(F9):c.612T>C (p.Ser204=)
|
rs1199474371
|
|
NM_000135.4(FANCA):c.*1012A>G
|
rs886052477
|
|
NM_000135.4(FANCA):c.*109C>T
|
rs55679217
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
|
rs752092543
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
|
rs2039611087
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
NM_000135.4(FANCA):c.18C>G (p.Val6=)
|
rs916719756
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2602-14A>C
|
rs886052483
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
NM_000135.4(FANCA):c.2852+12A>T
|
rs2038966561
|
|
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
|
rs2038843708
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
|
rs1014152202
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp)
|
rs371208490
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr)
|
rs886052481
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
|
rs17227354
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
|
rs1477796994
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro)
|
rs886052488
|
|
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg)
|
rs886052489
|
|
NM_000136.3(FANCC):c.*1059A>T
|
rs1044866059
|
|
NM_000136.3(FANCC):c.*1096T>C
|
rs111688138
|
|
NM_000136.3(FANCC):c.*1276C>A
|
rs1057515698
|
|
NM_000136.3(FANCC):c.*1359C>G
|
rs1009336483
|
|
NM_000136.3(FANCC):c.*1515C>T
|
rs2071028910
|
|
NM_000136.3(FANCC):c.*1727T>C
|
rs4647557
|
|
NM_000136.3(FANCC):c.*1895T>G
|
rs56161090
|
|
NM_000136.3(FANCC):c.*2164G>T
|
rs566582636
|
|
NM_000136.3(FANCC):c.*338C>A
|
rs920400068
|
|
NM_000136.3(FANCC):c.*516T>G
|
rs1004604171
|
|
NM_000136.3(FANCC):c.*825C>A
|
rs1057515700
|
|
NM_000136.3(FANCC):c.-172G>T
|
rs1057515706
|
|
NM_000136.3(FANCC):c.1534-8G>A
|
rs2071090579
|
|
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg)
|
rs199968672
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
|
rs1827537458
|
|
NM_000174.5(GP9):c.*51C>T
|
rs1946590225
|
|
NM_000174.5(GP9):c.-13+2T>C
|
rs1357144982
|
|
NM_000174.5(GP9):c.-30T>C
|
rs886057962
|
|
NM_000174.5(GP9):c.-39G>A
|
rs886057961
|
|
NM_000174.5(GP9):c.524C>T (p.Ala175Val)
|
rs760283361
|
|
NM_000186.4(CFH):c.*127G>T
|
rs369221006
|
|
NM_000186.4(CFH):c.-61A>G
|
rs886045741
|
|
NM_000186.4(CFH):c.103G>A (p.Gly35Ser)
|
rs886045742
|
|
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)
|
rs1668781638
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)
|
rs886045745
|
|
NM_000186.4(CFH):c.275C>T (p.Pro92Leu)
|
rs886045743
|
|
NM_000186.4(CFH):c.2763T>C (p.Ser921=)
|
rs1212658402
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.428-3C>T
|
rs886045744
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000195.5(HPS1):c.*1001G>T
|
rs190211350
|
|
NM_000195.5(HPS1):c.*1043C>T
|
rs1844137935
|
|
NM_000195.5(HPS1):c.*1085G>A
|
rs563447772
|
|
NM_000195.5(HPS1):c.*1212T>A
|
rs557906923
|
|
NM_000195.5(HPS1):c.*1215_*1217delinsTCC
|
rs386746903
|
|
NM_000195.5(HPS1):c.*1249G>A
|
rs886046583
|
|
NM_000195.5(HPS1):c.*766G>T
|
rs886046587
|
|
NM_000195.5(HPS1):c.*768A>G
|
rs886046586
|
|
NM_000195.5(HPS1):c.*952T>G
|
rs886046585
|
|
NM_000195.5(HPS1):c.-153del
|
rs886046593
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
NM_000195.5(HPS1):c.1647C>T (p.Arg549=)
|
rs886046591
|
|
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys)
|
rs1844278117
|
|
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg)
|
rs554593853
|
|
NM_000195.5(HPS1):c.808G>A (p.Val270Met)
|
rs145364430
|
|
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg)
|
rs886046592
|
|
NM_000204.4(CFI):c.-98T>C
|
rs886058984
|
|
NM_000204.5(CFI):c.1044+9G>A
|
rs568070697
|
|
NM_000204.5(CFI):c.1381T>C (p.Phe461Leu)
|
rs886058983
|
|
NM_000204.5(CFI):c.1516A>C (p.Lys506Gln)
|
rs886058982
|
|
NM_000204.5(CFI):c.373G>C (p.Gly125Arg)
|
rs910978973
|
|
NM_000204.5(CFI):c.91A>C (p.Lys31Gln)
|
rs140888912
|
|
NM_000211.5(ITGB2):c.*145C>T
|
rs1160263
|
|
NM_000211.5(ITGB2):c.*219AGG[1]
|
rs772191268
|
|
NM_000211.5(ITGB2):c.*403C>T
|
rs886057114
|
|
NM_000211.5(ITGB2):c.*56_*59dup
|
rs886057115
|
|
NM_000211.5(ITGB2):c.1084-5C>T
|
rs781696813
|
|
NM_000211.5(ITGB2):c.1230C>G (p.Thr410=)
|
rs886057117
|
|
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=)
|
rs202051683
|
|
NM_000211.5(ITGB2):c.1492C>T (p.Arg498Trp)
|
rs372695770
|
|
NM_000211.5(ITGB2):c.1495A>C (p.Lys499Gln)
|
rs2083765900
|
|
NM_000211.5(ITGB2):c.1602C>T (p.Cys534=)
|
rs748574145
|
|
NM_000211.5(ITGB2):c.1642G>T (p.Val548Phe)
|
rs886057116
|
|
NM_000211.5(ITGB2):c.1678G>C (p.Gly560Arg)
|
rs747266748
|
|
NM_000211.5(ITGB2):c.1804G>A (p.Glu602Lys)
|
rs145850370
|
|
NM_000211.5(ITGB2):c.1849G>T (p.Gly617Cys)
|
rs749135078
|
|
NM_000211.5(ITGB2):c.1877+12C>A
|
rs200144784
|
|
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=)
|
rs139840790
|
|
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=)
|
rs766106686
|
|
NM_000211.5(ITGB2):c.2310G>A (p.Ter770=)
|
rs762881198
|
|
NM_000211.5(ITGB2):c.328G>C (p.Gly110Arg)
|
rs2084050156
|
|
NM_000211.5(ITGB2):c.490G>A (p.Gly164Ser)
|
rs770285096
|
|
NM_000211.5(ITGB2):c.54G>A (p.Gly18=)
|
rs372110619
|
|
NM_000211.5(ITGB2):c.589G>A (p.Glu197Lys)
|
rs755393167
|
|
NM_000211.5(ITGB2):c.591G>A (p.Glu197=)
|
rs768833543
|
|
NM_000211.5(ITGB2):c.832A>T (p.Ile278Phe)
|
rs2083934143
|
|
NM_000212.3(ITGB3):c.*1041T>C
|
rs2065213700
|
|
NM_000212.3(ITGB3):c.*1226ATTTT[2]
|
rs886053095
|
|
NM_000212.3(ITGB3):c.*1349G>C
|
rs2065214730
|
|
NM_000212.3(ITGB3):c.*1804A>G
|
rs886053096
|
|
NM_000212.3(ITGB3):c.*185T>G
|
rs2065209331
|
|
NM_000212.3(ITGB3):c.*2404T>C
|
rs2065219928
|
|
NM_000212.3(ITGB3):c.*553_*555del
|
rs886053091
|
|
NM_000212.3(ITGB3):c.*674G>T
|
rs886053092
|
|
NM_000212.3(ITGB3):c.*805AAG[1]
|
rs373163926
|
|
NM_000212.3(ITGB3):c.*90G>C
|
rs2065208698
|
|
NM_000212.3(ITGB3):c.1309_1311del (p.Glu437del)
|
rs765171372
|
|
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln)
|
rs13306487
|
|
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys)
|
rs151219882
|
|
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=)
|
rs563420692
|
|
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe)
|
rs72547409
|
|
NM_000212.3(ITGB3):c.362-1G>A
|
rs1567764299
|
|
NM_000222.3(KIT):c.*1059C>T
|
rs886059467
|
|
NM_000222.3(KIT):c.*1087G>C
|
rs144602457
|
|
NM_000222.3(KIT):c.*1101A>G
|
rs886059468
|
|
NM_000222.3(KIT):c.*1487_*1490del
|
rs374796688
|
|
NM_000222.3(KIT):c.*1577T>C
|
rs1285763768
|
|
NM_000222.3(KIT):c.*198A>G
|
rs886059464
|
|
NM_000222.3(KIT):c.*37T>C
|
rs1723067916
|
|
NM_000222.3(KIT):c.*381C>T
|
rs1723087369
|
|
NM_000222.3(KIT):c.*530A>G
|
rs534199544
|
|
NM_000222.3(KIT):c.-56A>C
|
rs1560366372
|
|
NM_000222.3(KIT):c.1185C>A (p.Ser395=)
|
rs755864184
|
|
NM_000222.3(KIT):c.1264G>A (p.Val422Met)
|
rs1560414398
|
|
NM_000222.3(KIT):c.148G>T (p.Val50Leu)
|
rs200950545
|
|
NM_000222.3(KIT):c.211C>G (p.Leu71Val)
|
rs1720013807
|
|
NM_000222.3(KIT):c.252G>A (p.Thr84=)
|
rs56411694
|
|
NM_000222.3(KIT):c.2923G>C (p.Asp975His)
|
rs373152714
|
|
NM_000222.3(KIT):c.615G>A (p.Arg205=)
|
rs1720239935
|
|
NM_000222.3(KIT):c.78A>C (p.Gln26His)
|
rs764782713
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000289.5(PFKM):c.-176C>T
|
rs886049451
|
|
NM_000289.5(PFKM):c.-64C>T
|
rs886049452
|
|
NM_000289.6(PFKM):c.*134G>A
|
rs886049456
|
|
NM_000289.6(PFKM):c.*489T>A
|
rs886049457
|
|
NM_000289.6(PFKM):c.*503G>T
|
rs747797192
|
|
NM_000289.6(PFKM):c.*564G>A
|
rs1951034681
|
|
NM_000289.6(PFKM):c.*98G>A
|
rs886049455
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
|
rs1950621584
|
|
NM_000289.6(PFKM):c.360C>T (p.Gly120=)
|
rs886049453
|
|
NM_000298.6(PKLR):c.*13T>G
|
rs1052177
|
|
NM_000298.6(PKLR):c.*14C>G
|
rs8177994
|
|
NM_000298.6(PKLR):c.*351T>A
|
rs886045349
|
|
NM_000298.6(PKLR):c.*356T>C
|
rs1674470980
|
|
NM_000298.6(PKLR):c.*500C>T
|
rs1674463281
|
|
NM_000298.6(PKLR):c.*755T>C
|
rs1674455124
|
|
NM_000298.6(PKLR):c.1117-4C>G
|
rs1572054195
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
|
rs1220156417
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
NM_000298.6(PKLR):c.639G>T (p.Val213=)
|
rs750102822
|
|
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
NM_000298.6(PKLR):c.966-12C>T
|
rs1188767860
|
|
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
|
rs763964110
|
|
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
|
rs8177974
|
|
NM_000312.4(PROC):c.*176T>C
|
rs150393087
|
|
NM_000312.4(PROC):c.*220G>C
|
rs886054849
|
|
NM_000312.4(PROC):c.*81T>C
|
rs1688720421
|
|
NM_000312.4(PROC):c.1248G>T (p.Leu416=)
|
rs1688705028
|
|
NM_000312.4(PROC):c.282C>T (p.Val94=)
|
rs1688213562
|
|
NM_000312.4(PROC):c.548G>T (p.Cys183Phe)
|
rs1284942525
|
|
NM_000312.4(PROC):c.666C>G (p.Asp222Glu)
|
rs771116175
|
|
NM_000312.4(PROC):c.723G>T (p.Val241=)
|
rs771095734
|
|
NM_000312.4(PROC):c.785T>C (p.Leu262Pro)
|
rs1688564230
|
|
NM_000312.4(PROC):c.793C>T (p.Leu265Phe)
|
rs121918156
|
|
NM_000313.3(PROS1):c.*1195C>G
|
rs1708129293
|
|
NM_000313.4(PROS1):c.*1014T>C
|
rs1708133064
|
|
NM_000313.4(PROS1):c.*1082A>G
|
rs1708131875
|
|
NM_000313.4(PROS1):c.*1167_*1170del
|
rs886058921
|
|
NM_000313.4(PROS1):c.*1186C>T
|
rs1708129465
|
|
NM_000313.4(PROS1):c.*221del
|
rs776969264
|
|
NM_000313.4(PROS1):c.*422G>T
|
rs770100925
|
|
NM_000313.4(PROS1):c.*714T>C
|
rs886058923
|
|
NM_000313.4(PROS1):c.*737G>C
|
rs538937681
|
|
NM_000313.4(PROS1):c.*887C>A
|
rs1708135152
|
|
NM_000313.4(PROS1):c.*972C>T
|
rs538178021
|
|
NM_000313.4(PROS1):c.-116C>T
|
rs886058929
|
|
NM_000313.4(PROS1):c.-60G>C
|
rs368555701
|
|
NM_000313.4(PROS1):c.111T>C (p.Val37=)
|
rs886058928
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser)
|
rs1708153590
|
|
NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu)
|
rs886058926
|
|
NM_000313.4(PROS1):c.228G>A (p.Pro76=)
|
rs6121
|
|
NM_000313.4(PROS1):c.234G>A (p.Thr78=)
|
rs145399944
|
|
NM_000313.4(PROS1):c.710A>C (p.Lys237Thr)
|
rs558211174
|
|
NM_000313.4(PROS1):c.728-12T>C
|
rs775011352
|
|
NM_000313.4(PROS1):c.805G>A (p.Gly269Arg)
|
rs886058927
|
|
NM_000313.4(PROS1):c.965+9C>T
|
rs1708504228
|
|
NM_000342.4(SLC4A1):c.*1032C>T
|
rs557549888
|
|
NM_000342.4(SLC4A1):c.*1047T>C
|
rs2047320056
|
|
NM_000342.4(SLC4A1):c.*1273del
|
rs768606768
|
|
NM_000342.4(SLC4A1):c.*1316C>T
|
rs886052991
|
|
NM_000342.4(SLC4A1):c.*1606_*1608dup
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1608del
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1608dup
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1609C>T
|
rs1039193295
|
|
NM_000342.4(SLC4A1):c.*1693G>A
|
rs2047314555
|
|
NM_000342.4(SLC4A1):c.*1791C>T
|
rs941106311
|
|
NM_000342.4(SLC4A1):c.*265A>C
|
rs2047325817
|
|
NM_000342.4(SLC4A1):c.*649G>A
|
rs1054653641
|
|
NM_000342.4(SLC4A1):c.*701C>G
|
rs13306779
|
|
NM_000342.4(SLC4A1):c.*745G>A
|
rs1174269872
|
|
NM_000342.4(SLC4A1):c.*753C>T
|
rs763961316
|
|
NM_000342.4(SLC4A1):c.*872G>C
|
rs886052994
|
|
NM_000342.4(SLC4A1):c.*936G>T
|
rs1051135906
|
|
NM_000342.4(SLC4A1):c.*984T>G
|
rs878998198
|
|
NM_000342.4(SLC4A1):c.-59G>T
|
rs2047459963
|
|
NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=)
|
rs2047406551
|
|
NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys)
|
rs141751197
|
|
NM_000342.4(SLC4A1):c.1626+7G>A
|
rs765327742
|
|
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly)
|
rs886052998
|
|
NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=)
|
rs2047371426
|
|
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu)
|
rs886052996
|
|
NM_000342.4(SLC4A1):c.2586C>A (p.Val862=)
|
rs1485187596
|
|
NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys)
|
rs761763084
|
|
NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe)
|
rs2047435499
|
|
NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile)
|
rs2047435077
|
|
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly)
|
rs779054292
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
NM_000355.3(TCN2):c.-181A>C
|
rs2240433
|
|
NM_000355.4(TCN2):c.*173C>T
|
rs896653059
|
|
NM_000355.4(TCN2):c.*283C>G
|
rs538133033
|
|
NM_000355.4(TCN2):c.*415T>G
|
rs560130628
|
|
NM_000355.4(TCN2):c.*93G>C
|
rs886057398
|
|
NM_000355.4(TCN2):c.-153C>G
|
rs886057395
|
|
NM_000355.4(TCN2):c.-6G>A
|
rs771507572
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp)
|
rs886057396
|
|
NM_000355.4(TCN2):c.559C>T (p.His187Tyr)
|
rs1295178933
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
NM_000355.4(TCN2):c.581-4C>T
|
rs867249218
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000355.4(TCN2):c.810G>A (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
NM_000361.3(THBD):c.*1153A>G
|
rs886056542
|
|
NM_000361.3(THBD):c.*1519G>C
|
rs1984567640
|
|
NM_000361.3(THBD):c.*1845G>T
|
rs867940213
|
|
NM_000361.3(THBD):c.*1869G>A
|
rs886056539
|
|
NM_000361.3(THBD):c.*1G>T
|
rs1984610334
|
|
NM_000361.3(THBD):c.*27C>T
|
rs530087674
|
|
NM_000361.3(THBD):c.*508dup
|
rs373979588
|
|
NM_000361.3(THBD):c.*562G>C
|
rs886056544
|
|
NM_000361.3(THBD):c.*663C>T
|
rs886056543
|
|
NM_000361.3(THBD):c.*775G>C
|
rs539785413
|
|
NM_000361.3(THBD):c.*943dup
|
rs759004623
|
|
NM_000361.3(THBD):c.1205A>G (p.His402Arg)
|
rs1984634547
|
|
NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)
|
rs1984617316
|
|
NM_000361.3(THBD):c.1674C>G (p.Ser558=)
|
rs1984613257
|
|
NM_000361.3(THBD):c.656G>T (p.Gly219Val)
|
rs886056548
|
|
NM_000361.3(THBD):c.747C>G (p.Asn249Lys)
|
rs886056546
|
|
NM_000361.3(THBD):c.885C>T (p.Phe295=)
|
rs1568666169
|
|
NM_000361.3(THBD):c.897C>T (p.Asn299=)
|
rs1008621697
|
|
NM_000365.6(TPI1):c.*134C>A
|
rs782308993
|
|
NM_000365.6(TPI1):c.*173G>A
|
rs1191018741
|
|
NM_000365.6(TPI1):c.*520T>C
|
rs1944574698
|
|
NM_000365.6(TPI1):c.*541dup
|
rs201871949
|
|
NM_000365.6(TPI1):c.*542_*544del
|
rs782559646
|
|
NM_000365.6(TPI1):c.-29C>T
|
rs181882616
|
|
NM_000365.6(TPI1):c.239+8C>A
|
rs782359362
|
|
NM_000365.6(TPI1):c.558C>T (p.His186=)
|
rs369241009
|
|
NM_000373.4(UMPS):c.*1153C>T
|
rs768119744
|
|
NM_000373.4(UMPS):c.*1298_*1299del
|
rs11330991
|
|
NM_000373.4(UMPS):c.*1306_*1307del
|
rs777742646
|
|
NM_000373.4(UMPS):c.*1843A>C
|
rs920254780
|
|
NM_000373.4(UMPS):c.*2035C>T
|
rs2063595086
|
|
NM_000373.4(UMPS):c.*2036A>T
|
rs1211026340
|
|
NM_000373.4(UMPS):c.*255T>C
|
rs2063580266
|
|
NM_000373.4(UMPS):c.*2631C>G
|
rs2063601529
|
|
NM_000373.4(UMPS):c.*2671T>G
|
rs886057880
|
|
NM_000373.4(UMPS):c.*2672TG[18]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[20]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[22]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[24]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[25]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2672TG[26]
|
rs58981387
|
|
NM_000373.4(UMPS):c.*2703G>A
|
rs886057883
|
|
NM_000373.4(UMPS):c.*2711G>A
|
rs2063603702
|
|
NM_000373.4(UMPS):c.*2715_*2718del
|
rs886057884
|
|
NM_000373.4(UMPS):c.*2716T>C
|
rs886057885
|
|
NM_000373.4(UMPS):c.*3367C>A
|
rs768556841
|
|
NM_000373.4(UMPS):c.*4013ATATA[1]
|
rs541152211
|
|
NM_000373.4(UMPS):c.*4570C>T
|
rs1387243813
|
|
NM_000373.4(UMPS):c.*469C>T
|
rs2063582436
|
|
NM_000373.4(UMPS):c.*4765_*4767del
|
rs886057897
|
|
NM_000373.4(UMPS):c.*4883C>T
|
rs148029686
|
|
NM_000373.4(UMPS):c.*5120_*5124del
|
rs556352266
|
|
NM_000373.4(UMPS):c.*814C>T
|
rs763914466
|
|
NM_000373.4(UMPS):c.*882G>C
|
rs2063585502
|
|
NM_000373.4(UMPS):c.105C>T (p.Pro35=)
|
rs772728104
|
|
NM_000373.4(UMPS):c.1158+10G>C
|
rs371807738
|
|
NM_000373.4(UMPS):c.441T>C (p.Thr147=)
|
rs886057871
|
|
NM_000373.4(UMPS):c.799T>C (p.Leu267=)
|
rs2063529927
|
|
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn)
|
rs200305064
|
|
NM_000375.3(UROS):c.-195C>A
|
rs1227442865
|
|
NM_000375.3(UROS):c.-224C>T
|
rs1854170338
|
|
NM_000375.3(UROS):c.251A>C (p.Glu84Ala)
|
rs763606042
|
|
NM_000375.3(UROS):c.512T>C (p.Val171Ala)
|
rs17173752
|
|
NM_000384.3(APOB):c.12088-23dup
|
rs751121092
|
|
NM_000384.3(APOB):c.2917C>A (p.Leu973Met)
|
rs886055592
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile)
|
rs768221258
|
|
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=)
|
rs886053007
|
|
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)
|
rs151179377
|
|
NM_000419.5(ITGA2B):c.230G>A (p.Ser77Asn)
|
rs886053010
|
|
NM_000419.5(ITGA2B):c.2311G>T (p.Val771Leu)
|
rs368953599
|
|
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu)
|
rs369457651
|
|
NM_000419.5(ITGA2B):c.2556G>C (p.Gln852His)
|
rs2048538187
|
|
NM_000419.5(ITGA2B):c.2702C>T (p.Ser901Leu)
|
rs2048534441
|
|
NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=)
|
rs759462215
|
|
NM_000419.5(ITGA2B):c.2963G>A (p.Arg988Gln)
|
rs368536313
|
|
NM_000419.5(ITGA2B):c.3090C>G (p.Pro1030=)
|
rs1393382106
|
|
NM_000419.5(ITGA2B):c.375G>A (p.Gly125=)
|
rs2048643952
|
|
NM_000419.5(ITGA2B):c.560T>C (p.Val187Ala)
|
rs2048639767
|
|
NM_000419.5(ITGA2B):c.626C>T (p.Ala209Val)
|
rs143284768
|
|
NM_000419.5(ITGA2B):c.628G>C (p.Gly210Arg)
|
rs886053009
|
|
NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala)
|
rs2048627164
|
|
NM_000419.5(ITGA2B):c.891+12del
|
rs373578804
|
|
NM_000419.5(ITGA2B):c.945+10A>G
|
rs886053008
|
|
NM_000419.5(ITGA2B):c.964C>T (p.His322Tyr)
|
rs1376804511
|
|
NM_000433.4(NCF2):c.*264AG[2]
|
rs886045650
|
|
NM_000433.4(NCF2):c.*393del
|
rs771465757
|
|
NM_000433.4(NCF2):c.*393dup
|
rs771465757
|
|
NM_000433.4(NCF2):c.*397_*398insTCA
|
rs886045648
|
|
NM_000433.4(NCF2):c.*508_*512dup
|
rs555649211
|
|
NM_000433.4(NCF2):c.*510T>A
|
rs886045646
|
|
NM_000433.4(NCF2):c.*539GTTT[1]
|
rs376681445
|
|
NM_000433.4(NCF2):c.1071C>T (p.His357=)
|
rs1672170931
|
|
NM_000433.4(NCF2):c.1084G>A (p.Val362Ile)
|
rs886045656
|
|
NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg)
|
rs886045655
|
|
NM_000433.4(NCF2):c.1291-15C>G
|
rs886045654
|
|
NM_000433.4(NCF2):c.1375G>C (p.Gly459Arg)
|
rs1671979597
|
|
NM_000433.4(NCF2):c.1385T>G (p.Val462Gly)
|
rs886045652
|
|
NM_000433.4(NCF2):c.1498A>G (p.Lys500Glu)
|
rs886045651
|
|
NM_000433.4(NCF2):c.707T>C (p.Ile236Thr)
|
rs764405660
|
|
NM_000433.4(NCF2):c.855+1G>A
|
rs1352805193
|
|
NM_000433.4(NCF2):c.918G>A (p.Gln306=)
|
rs535561432
|
|
NM_000460.4(THPO):c.*108C>T
|
rs1353316698
|
|
NM_000460.4(THPO):c.*191T>G
|
rs1713957283
|
|
NM_000460.4(THPO):c.*500A>G
|
rs886058217
|
|
NM_000460.4(THPO):c.-123C>T
|
rs535707667
|
|
NM_000460.4(THPO):c.517G>A (p.Val173Ile)
|
rs780992873
|
|
NM_000460.4(THPO):c.671G>A (p.Gly224Glu)
|
rs886058218
|
|
NM_000460.4(THPO):c.740T>C (p.Leu247Pro)
|
rs749011920
|
|
NM_000460.4(THPO):c.791_794del (p.Pro264fs)
|
rs760659440
|
|
NM_000504.4(F10):c.-10C>G
|
rs757542867
|
|
NM_000504.4(F10):c.1043G>A (p.Trp348Ter)
|
rs1566922655
|
|
NM_000504.4(F10):c.1347C>T (p.Tyr449=)
|
rs1432439347
|
|
NM_000504.4(F10):c.1406G>A (p.Arg469Lys)
|
rs771971250
|
|
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
|
rs121964939
|
|
NM_000504.4(F10):c.584C>G (p.Pro195Arg)
|
rs886050002
|
|
NM_000504.4(F10):c.633C>G (p.Thr211=)
|
rs140852978
|
|
NM_000504.4(F10):c.916G>A (p.Glu306Lys)
|
rs1366354349
|
|
NM_000505.4(F12):c.-25G>A
|
rs886060472
|
|
NM_000505.4(F12):c.1018+11G>T
|
rs570973405
|
|
NM_000505.4(F12):c.1025C>T (p.Pro342Leu)
|
rs2230939
|
|
NM_000505.4(F12):c.1142G>A (p.Arg381His)
|
rs1763214147
|
|
NM_000505.4(F12):c.1251-9C>A
|
rs17876032
|
|
NM_000505.4(F12):c.286+6A>G
|
rs1763273226
|
|
NM_000505.4(F12):c.957G>C (p.Gln319His)
|
rs1763225226
|
|
NM_000506.4(F2):c.*100C>A
|
rs112016113
|
|
NM_000506.5(F2):c.1472+9C>T
|
rs886048336
|
|
NM_000506.5(F2):c.1567C>T (p.Leu523=)
|
rs886048337
|
|
NM_000506.5(F2):c.1621C>A (p.Arg541=)
|
rs886048338
|
|
NM_000506.5(F2):c.45G>A (p.Leu15=)
|
rs886048333
|
|
NM_000509.5(FGG):c.-53A>G
|
rs886059156
|
|
NM_000518.5(HBB):c.*56A>T
|
rs537944366
|
|
NM_000518.5(HBB):c.*59A>G
|
rs1345009528
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000519.4(HBD):c.*65T>C
|
rs1847687778
|
|
NM_000519.4(HBD):c.*91G>A
|
rs886048394
|
|
NM_000519.4(HBD):c.6G>A (p.Val2=)
|
rs1454993638
|
|
NM_000519.4(HBD):c.76G>A (p.Gly26Ser)
|
rs886048395
|
|
NM_000552.5(VWF):c.-107C>G
|
rs886049747
|
|
NM_000552.5(VWF):c.-131G>C
|
rs886049748
|
|
NM_000552.5(VWF):c.-72C>T
|
rs886049746
|
|
NM_000552.5(VWF):c.1142A>G (p.Asn381Ser)
|
rs886049745
|
|
NM_000552.5(VWF):c.1730-18_1730-12del
|
rs756282321
|
|
NM_000552.5(VWF):c.1752C>T (p.Cys584=)
|
rs748584672
|
|
NM_000552.5(VWF):c.1862G>C (p.Cys621Ser)
|
rs886049744
|
|
NM_000552.5(VWF):c.3162G>C (p.Thr1054=)
|
rs754421736
|
|
NM_000552.5(VWF):c.3538+6G>T
|
rs886049742
|
|
NM_000552.5(VWF):c.5170+14G>C
|
rs1262362572
|
|
NM_000552.5(VWF):c.56-14G>T
|
rs1945429534
|
|
NM_000552.5(VWF):c.5876T>G (p.Val1959Gly)
|
rs886049739
|
|
NM_000552.5(VWF):c.7483del (p.Leu2495fs)
|
rs1229452874
|
|
NM_000552.5(VWF):c.7790T>A (p.Ile2597Asn)
|
rs886049737
|
|
NM_000552.5(VWF):c.792del (p.Cys265fs)
|
rs1565853894
|
|
NM_000552.5(VWF):c.7947C>T (p.Cys2649=)
|
rs748907832
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter)
|
rs1565806829
|
|
NM_000552.5(VWF):c.8096A>G (p.His2699Arg)
|
rs886049736
|
|
NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser)
|
rs371036946
|
|
NM_000602.5(SERPINE1):c.*1006T>C
|
rs201434513
|
|
NM_000602.5(SERPINE1):c.*1147G>C
|
rs886061838
|
|
NM_000602.5(SERPINE1):c.*1155T>C
|
rs886061839
|
|
NM_000602.5(SERPINE1):c.*1192G>C
|
rs886061840
|
|
NM_000602.5(SERPINE1):c.*1443C>A
|
rs886061841
|
|
NM_000602.5(SERPINE1):c.*1545T>C
|
rs1796703744
|
|
NM_000602.5(SERPINE1):c.*1590A>G
|
rs886061842
|
|
NM_000602.5(SERPINE1):c.*455C>T
|
rs146323865
|
|
NM_000602.5(SERPINE1):c.*456G>A
|
rs1334787082
|
|
NM_000602.5(SERPINE1):c.*508C>A
|
rs886061836
|
|
NM_000602.5(SERPINE1):c.-101G>A
|
rs886061835
|
|
NM_000602.5(SERPINE1):c.-93C>T
|
rs556803416
|
|
NM_000602.5(SERPINE1):c.149C>G (p.Ser50Cys)
|
rs1412176159
|
|
NM_000602.5(SERPINE1):c.700+10A>G
|
rs1796362492
|
|
NM_000602.5(SERPINE1):c.845T>G (p.Ile282Ser)
|
rs750289183
|
|
NM_000602.5(SERPINE1):c.934C>T (p.Pro312Ser)
|
rs1796546340
|
|
NM_000602.5(SERPINE1):c.995T>C (p.Leu332Pro)
|
rs1796549628
|
|
NM_000617.3(SLC11A2):c.*1444C>T
|
rs946003076
|
|
NM_000617.3(SLC11A2):c.*1466dup
|
rs561463670
|
|
NM_000617.3(SLC11A2):c.*1752dup
|
rs755515112
|
|
NM_000617.3(SLC11A2):c.*2083_*2084del
|
rs886049557
|
|
NM_000617.3(SLC11A2):c.*2289G>T
|
rs867212578
|
|
NM_000617.3(SLC11A2):c.*2320del
|
rs141968385
|
|
NM_000617.3(SLC11A2):c.*295G>A
|
rs1940770079
|
|
NM_000617.3(SLC11A2):c.*970A>G
|
rs886049563
|
|
NM_000617.3(SLC11A2):c.-38-3C>T
|
rs886049569
|
|
NM_000617.3(SLC11A2):c.-39+12G>A
|
rs1944384418
|
|
NM_000617.3(SLC11A2):c.1421+8T>A
|
rs886049566
|
|
NM_000617.3(SLC11A2):c.1576-7C>G
|
rs1940818391
|
|
NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly)
|
rs774857007
|
|
NM_000617.3(SLC11A2):c.828C>G (p.Val276=)
|
rs754854640
|
|
NM_000619.3(IFNG):c.*107A>G
|
rs886049800
|
|
NM_000619.3(IFNG):c.*187T>G
|
rs1213374453
|
|
NM_000619.3(IFNG):c.*22T>A
|
rs1882583669
|
|
NM_000619.3(IFNG):c.*93TCAA[1]
|
rs137854903
|
|
NM_000619.3(IFNG):c.*9C>T
|
rs886049801
|
|
NM_000619.3(IFNG):c.-2C>A
|
rs886049802
|
|
NM_000619.3(IFNG):c.-9T>C
|
rs886049803
|
|
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter)
|
rs753611452
|
|
NM_000821.7(GGCX):c.*1019G>C
|
rs545427723
|
|
NM_000821.7(GGCX):c.*1037A>G
|
rs184378248
|
|
NM_000821.7(GGCX):c.*1145G>A
|
rs1297390996
|
|
NM_000821.7(GGCX):c.*1186A>G
|
rs886056372
|
|
NM_000821.7(GGCX):c.*1324T>C
|
rs757965941
|
|
NM_000821.7(GGCX):c.*1686C>G
|
rs1177037435
|
|
NM_000821.7(GGCX):c.*1712A>C
|
rs557850002
|
|
NM_000821.7(GGCX):c.*1721G>A
|
rs187452629
|
|
NM_000821.7(GGCX):c.*1727A>G
|
rs114386392
|
|
NM_000821.7(GGCX):c.*1819A>C
|
rs886056370
|
|
NM_000821.7(GGCX):c.*2299C>T
|
rs886056368
|
|
NM_000821.7(GGCX):c.*2304T>C
|
rs886056367
|
|
NM_000821.7(GGCX):c.*2560A>G
|
rs886056366
|
|
NM_000821.7(GGCX):c.*2965C>A
|
rs1340998302
|
|
NM_000821.7(GGCX):c.*3000A>G
|
rs190910259
|
|
NM_000821.7(GGCX):c.*309A>G
|
rs886056376
|
|
NM_000821.7(GGCX):c.*3630A>T
|
rs886056363
|
|
NM_000821.7(GGCX):c.*3703C>T
|
rs1691656620
|
|
NM_000821.7(GGCX):c.*3757T>C
|
rs886056361
|
|
NM_000821.7(GGCX):c.*4047T>C
|
rs189391524
|
|
NM_000821.7(GGCX):c.*417G>A
|
rs768419574
|
|
NM_000821.7(GGCX):c.*4288G>C
|
rs886056357
|
|
NM_000821.7(GGCX):c.*4366C>T
|
rs550873302
|
|
NM_000821.7(GGCX):c.*4475T>C
|
rs1691612144
|
|
NM_000821.7(GGCX):c.*4848C>T
|
rs867667606
|
|
NM_000821.7(GGCX):c.*610C>T
|
rs532781606
|
|
NM_000821.7(GGCX):c.*680G>A
|
rs139300235
|
|
NM_000821.7(GGCX):c.*91G>T
|
rs1383100743
|
|
NM_000821.7(GGCX):c.*973A>G
|
rs1691798044
|
|
NM_000821.7(GGCX):c.-23C>T
|
rs537250931
|
|
NM_000821.7(GGCX):c.-46C>G
|
rs376371398
|
|
NM_000821.7(GGCX):c.1008C>T (p.Ala336=)
|
rs1692059799
|
|
NM_000821.7(GGCX):c.1046G>C (p.Arg349Pro)
|
rs146930374
|
|
NM_000821.7(GGCX):c.1140dup (p.His381fs)
|
rs1558807827
|
|
NM_000821.7(GGCX):c.137C>T (p.Ser46Phe)
|
rs201510718
|
|
NM_000821.7(GGCX):c.1453C>T (p.Arg485Cys)
|
rs773659201
|
|
NM_000821.7(GGCX):c.1485C>T (p.Pro495=)
|
rs1691972995
|
|
NM_000821.7(GGCX):c.198C>T (p.Val66=)
|
rs147427088
|
|
NM_000821.7(GGCX):c.1994G>A (p.Arg665Lys)
|
rs1691898500
|
|
NM_000821.7(GGCX):c.2119A>C (p.Ile707Leu)
|
rs755087978
|
|
NM_000821.7(GGCX):c.2133T>G (p.Pro711=)
|
rs886056379
|
|
NM_000821.7(GGCX):c.271A>C (p.Lys91Gln)
|
rs1692323011
|
|
NM_000821.7(GGCX):c.68A>G (p.Glu23Gly)
|
rs886056380
|
|
NM_000821.7(GGCX):c.726-4G>T
|
rs146123760
|
|
NM_000821.7(GGCX):c.745C>T (p.Leu249=)
|
rs1262224787
|
|
NM_000821.7(GGCX):c.994C>A (p.Pro332Thr)
|
rs750270424
|
|
NM_000969.5(RPL5):c.-2G>A
|
rs886046558
|
|
NM_000969.5(RPL5):c.-46C>G
|
rs376208311
|
|
NM_000969.5(RPL5):c.-64C>G
|
rs1006135937
|
|
NM_000969.5(RPL5):c.-70T>A
|
rs551112484
|
|
NM_000969.5(RPL5):c.-74C>A
|
rs752282235
|
|
NM_000969.5(RPL5):c.3+11G>C
|
rs376414614
|
|
NM_000969.5(RPL5):c.4-10T>C
|
rs1686989669
|
|
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
|
rs1687120549
|
|
NM_000975.5(RPL11):c.270G>A (p.Arg90=)
|
rs886046308
|
|
NM_000996.4(RPL35A):c.-37T>G
|
rs886058265
|
|
NM_001001547.3(CD36):c.-186T>G
|
rs1455351951
|
|
NM_001001547.3(CD36):c.-325G>A
|
rs886062448
|
|
NM_001001548.3(CD36):c.*1419+10T>C
|
rs1798034310
|
|
NM_001001548.3(CD36):c.1112_1119dup (p.Glu374fs)
|
rs1242969201
|
|
NM_001001548.3(CD36):c.1126-5_1127del
|
rs770511058
|
|
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs)
|
rs757570230
|
|
NM_001001548.3(CD36):c.1200-12C>T
|
rs765778656
|
|
NM_001001548.3(CD36):c.1220_1222del (p.Arg407del)
|
rs773274847
|
|
NM_001001548.3(CD36):c.1291A>G (p.Arg431Gly)
|
rs140728267
|
|
NM_001001548.3(CD36):c.1297_1301del (p.Gln433fs)
|
rs755620205
|
|
NM_001001548.3(CD36):c.14G>A (p.Arg5Gln)
|
rs13306227
|
|
NM_001001548.3(CD36):c.265G>T (p.Gly89Cys)
|
rs374729345
|
|
NM_001001548.3(CD36):c.275C>T (p.Thr92Met)
|
rs150037612
|
|
NM_001001548.3(CD36):c.374C>T (p.Ser125Leu)
|
rs886062453
|
|
NM_001001548.3(CD36):c.380C>G (p.Ser127Ter)
|
rs201765331
|
|
NM_001001548.3(CD36):c.405C>G (p.Phe135Leu)
|
rs747515126
|
|
NM_001001548.3(CD36):c.601T>C (p.Phe201Leu)
|
rs1796699020
|
|
NM_001001548.3(CD36):c.610-5T>C
|
rs185913608
|
|
NM_001001548.3(CD36):c.640G>A (p.Val214Ile)
|
rs190735330
|
|
NM_001001548.3(CD36):c.701+1del
|
rs775534351
|
|
NM_001001548.3(CD36):c.872A>G (p.Tyr291Cys)
|
rs200752989
|
|
NM_001001548.3(CD36):c.907C>G (p.Pro303Ala)
|
rs1797624389
|
|
NM_001011.4(RPS7):c.-23G>A
|
rs886055985
|
|
NM_001011.4(RPS7):c.-44C>T
|
rs563293592
|
|
NM_001014.5(RPS10):c.-32del
|
rs767826894
|
|
NM_001014.5(RPS10):c.-38_-37del
|
rs1581933797
|
|
NM_001014.5(RPS10):c.-9G>C
|
rs899828117
|
|
NM_001014.5(RPS10):c.168C>T (p.Gly56=)
|
rs1765897705
|
|
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr)
|
rs886061322
|
|
NM_001018113.3(FANCB):c.-219G>T
|
rs373175926
|
|
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)
|
rs956498867
|
|
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
|
rs2092370985
|
|
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
|
rs2092368698
|
|
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
|
rs2092363086
|
|
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)
|
rs970828551
|
|
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln)
|
rs1057515809
|
|
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
|
rs2092461325
|
|
NM_001018113.3(FANCB):c.952-13C>T
|
rs1057515807
|
|
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe)
|
rs886057663
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val)
|
rs2087129096
|
|
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr)
|
rs1221998060
|
|
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=)
|
rs2087245604
|
|
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg)
|
rs1232065920
|
|
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
|
rs955122662
|
|
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu)
|
rs886057690
|
|
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr)
|
rs1168778380
|
|
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
|
rs758628578
|
|
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu)
|
rs886057691
|
|
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)
|
rs200118565
|
|
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=)
|
rs566518051
|
|
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly)
|
rs886057692
|
|
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
|
rs752376206
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
NM_001018115.3(FANCD2):c.4281+517A>C
|
rs1695165243
|
|
NM_001018115.3(FANCD2):c.4281+543C>T
|
rs540249462
|
|
NM_001018115.3(FANCD2):c.4281+823A>G
|
rs886057697
|
|
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro)
|
rs769402896
|
|
NM_001022.3(RPS19):c.-151G>T
|
rs886054466
|
|
NM_001022.3(RPS19):c.-190C>G
|
rs1053550637
|
|
NM_001022.4(RPS19):c.-26C>T
|
rs2074012484
|
|
NM_001022.4(RPS19):c.172+5G>C
|
rs886054471
|
|
NM_001022.4(RPS19):c.198C>T (p.Leu66=)
|
rs1275070186
|
|
NM_001022.4(RPS19):c.357-5C>G
|
rs782129469
|
|
NM_001022.4(RPS19):c.71+12del
|
rs886054470
|
|
NM_001022.4(RPS19):c.71+6T>A
|
rs2074021759
|
|
NM_001029.5(RPS26):c.-130T>G
|
rs1895889933
|
|
NM_001029.5(RPS26):c.-149G>T
|
rs886049686
|
|
NM_001040436.2(YARS2):c.-31A>G
|
rs557243101
|
|
NM_001040436.3(YARS2):c.*377G>A
|
rs1955646004
|
|
NM_001040436.3(YARS2):c.*62G>A
|
rs527443669
|
|
NM_001040436.3(YARS2):c.1104-16dup
|
rs761612441
|
|
NM_001040436.3(YARS2):c.30C>T (p.Ser10=)
|
rs886049305
|
|
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met)
|
rs886049304
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001063.4(TF):c.*81A>G
|
rs886058015
|
|
NM_001063.4(TF):c.142G>A (p.Val48Ile)
|
rs144636315
|
|
NM_001063.4(TF):c.1687+9A>C
|
rs886058014
|
|
NM_001063.4(TF):c.174T>A (p.Cys58Ter)
|
rs1559867036
|
|
NM_001063.4(TF):c.1805C>A (p.Pro602Gln)
|
rs41296598
|
|
NM_001081.4(CUBN):c.*177C>G
|
rs886046860
|
|
NM_001081.4(CUBN):c.*267A>T
|
rs1203238498
|
|
NM_001081.4(CUBN):c.*304G>T
|
rs2131292535
|
|
NM_001081.4(CUBN):c.*329C>G
|
rs376727720
|
|
NM_001081.4(CUBN):c.*329C>T
|
rs376727720
|
|
NM_001081.4(CUBN):c.*453A>G
|
rs1838716540
|
|
NM_001081.4(CUBN):c.*460C>A
|
rs1588559715
|
|
NM_001081.4(CUBN):c.*514T>G
|
rs886046854
|
|
NM_001081.4(CUBN):c.*794A>G
|
rs886046852
|
|
NM_001081.4(CUBN):c.*883G>A
|
rs886046851
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
|
rs1839164438
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys)
|
rs886046863
|
|
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
|
rs368511477
|
|
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
|
rs2131299558
|
|
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=)
|
rs886046862
|
|
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
|
rs1838734881
|
|
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)
|
rs564429505
|
|
NM_001081.4(CUBN):c.1110A>C (p.Leu370=)
|
rs886046878
|
|
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
|
rs780440368
|
|
NM_001081.4(CUBN):c.2110+10C>G
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
|
rs2131865310
|
|
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
|
rs1836053318
|
|
NM_001081.4(CUBN):c.2446+14_2446+15del
|
rs752528712
|
|
NM_001081.4(CUBN):c.2447-15T>A
|
rs886046877
|
|
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
|
rs386833778
|
|
NM_001081.4(CUBN):c.3008+9_3008+12dup
|
rs772081536
|
|
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg)
|
rs886046876
|
|
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp)
|
rs189294363
|
|
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
|
rs776683073
|
|
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=)
|
rs769326338
|
|
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
|
rs202053511
|
|
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
|
rs1391948790
|
|
NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
|
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
|
rs144943516
|
|
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)
|
rs149164899
|
|
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val)
|
rs779378713
|
|
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-6A>G
|
rs776579478
|
|
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met)
|
rs886046873
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=)
|
rs886046872
|
|
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
|
rs141319759
|
|
NM_001081.4(CUBN):c.7316C>G (p.Ser2439Ter)
|
rs1564421451
|
|
NM_001081.4(CUBN):c.7352-7A>C
|
rs886046869
|
|
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn)
|
rs886046868
|
|
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys)
|
rs766806038
|
|
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr)
|
rs886046867
|
|
NM_001081.4(CUBN):c.7861dup (p.Tyr2621fs)
|
rs1564415858
|
|
NM_001081.4(CUBN):c.8062+5G>A
|
rs886046866
|
|
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
|
rs2131420801
|
|
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn)
|
rs886046865
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile)
|
rs886046881
|
|
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg)
|
rs544783535
|
|
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
|
rs1408193576
|
|
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala)
|
rs886046880
|
|
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
|
rs1432636083
|
|
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
|
rs1839305562
|
|
NM_001113378.2(FANCI):c.*614T>G
|
rs886051521
|
|
NM_001113378.2(FANCI):c.*662C>G
|
rs560246181
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)
|
rs2053765806
|
|
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)
|
rs780031757
|
|
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe)
|
rs886051511
|
|
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)
|
rs2054115728
|
|
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
|
rs758575911
|
|
NM_001113378.2(FANCI):c.3592-12C>T
|
rs2054775391
|
|
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
|
rs766147964
|
|
NM_001113378.2(FANCI):c.3652-10A>G
|
rs202231175
|
|
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)
|
rs765168059
|
|
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)
|
rs2055029234
|
|
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp)
|
rs1229086339
|
|
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met)
|
rs749287934
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
NM_001113378.2(FANCI):c.3925-84_3925-81dup
|
rs1444126104
|
|
NM_001113378.2(FANCI):c.606C>T (p.Phe202=)
|
rs886051508
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr)
|
rs1254032261
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp)
|
rs116484797
|
|
NM_001114134.2(EPB42):c.1075+14G>A
|
rs775871506
|
|
NM_001114134.2(EPB42):c.1077C>T (p.Val359=)
|
rs768178069
|
|
NM_001114134.2(EPB42):c.1195T>C (p.Cys399Arg)
|
rs751034626
|
|
NM_001114134.2(EPB42):c.1220C>T (p.Thr407Ile)
|
rs886051166
|
|
NM_001114134.2(EPB42):c.1244G>C (p.Gly415Ala)
|
rs753161252
|
|
NM_001114134.2(EPB42):c.1318+3A>G
|
rs376358319
|
|
NM_001114134.2(EPB42):c.1386C>T (p.Asn462=)
|
rs199505318
|
|
NM_001114134.2(EPB42):c.1682del (p.Phe561fs)
|
rs775832353
|
|
NM_001114636.1(FANCL):c.-34T>C
|
rs374960980
|
|
NM_001114636.1(FANCL):c.-39A>C
|
rs41281511
|
|
NM_001114636.1(FANCL):c.-40C>A
|
rs199661008
|
|
NM_001114636.1(FANCL):c.-44C>T
|
rs780348127
|
|
NM_001128227.3(GNE):c.52-9070C>T
|
rs886063928
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001171506.2(MCFD2):c.-184_-183del
|
rs886056120
|
|
NM_001171506.2(MCFD2):c.-185_-183del
|
rs886056121
|
|
NM_001171506.2(MCFD2):c.-189_-186del
|
rs886056123
|
|
NM_001171506.2(MCFD2):c.-189del
|
rs886056124
|
|
NM_001172303.3(MASTL):c.*203T>A
|
rs886046962
|
|
NM_001172303.3(MASTL):c.*252T>C
|
rs886046963
|
|
NM_001172303.3(MASTL):c.110T>C (p.Ile37Thr)
|
rs2057331026
|
|
NM_001172303.3(MASTL):c.1408C>A (p.His470Asn)
|
rs749431813
|
|
NM_001172303.3(MASTL):c.1566A>G (p.Lys522=)
|
rs2057895488
|
|
NM_001172303.3(MASTL):c.2517C>T (p.Asp839=)
|
rs886046960
|
|
NM_001172303.3(MASTL):c.346G>A (p.Gly116Arg)
|
rs886046957
|
|
NM_001172303.3(MASTL):c.744A>G (p.Gly248=)
|
rs886046958
|
|
NM_001174125.2(SLC11A2):c.49+1757C>T
|
rs1057516023
|
|
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)
|
rs201468609
|
|
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)
|
rs747482925
|
|
NM_001243177.4(ALDOA):c.541+17del
|
rs886051891
|
|
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)
|
rs886051892
|
|
NM_001250.5(CD40):c.-55C>G
|
rs573086622
|
|
NM_001250.5(CD40):c.-67G>T
|
rs575088069
|
|
NM_001250.6(CD40):c.*85G>T
|
rs886056718
|
|
NM_001250.6(CD40):c.311C>T (p.Thr104Ile)
|
rs1171596083
|
|
NM_001250.6(CD40):c.339T>C (p.Ser113=)
|
rs886056717
|
|
NM_001250.6(CD40):c.379C>T (p.Pro127Ser)
|
rs2085343720
|
|
NM_001250.6(CD40):c.397C>T (p.Gln133Ter)
|
rs1460849632
|
|
NM_001250.6(CD40):c.647-4_647-3dup
|
rs749590513
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr)
|
rs770880582
|
|
NM_001374504.1(TMPRSS6):c.*251T>A
|
rs1926220781
|
|
NM_001374504.1(TMPRSS6):c.1069T>C (p.Cys357Arg)
|
rs886057492
|
|
NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe)
|
rs747170531
|
|
NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly)
|
rs117576908
|
|
NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly)
|
rs865982171
|
|
NM_001374504.1(TMPRSS6):c.143T>A (p.Phe48Tyr)
|
rs745388319
|
|
NM_001374504.1(TMPRSS6):c.163G>T (p.Val55Leu)
|
rs1298407272
|
|
NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser)
|
rs375396615
|
|
NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=)
|
rs1926663670
|
|
NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr)
|
rs1359150426
|
|
NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro)
|
rs1384127820
|
|
NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro)
|
rs750512709
|
|
NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=)
|
rs964576902
|
|
NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu)
|
rs749277509
|
|
NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=)
|
rs1391985221
|
|
NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His)
|
rs916375086
|
|
NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs)
|
rs1569012596
|
|
NM_001375808.2(LPIN2):c.*1199G>A
|
rs566472161
|
|
NM_001375808.2(LPIN2):c.*1220G>A
|
rs886053749
|
|
NM_001375808.2(LPIN2):c.*1417C>T
|
rs745743898
|
|
NM_001375808.2(LPIN2):c.*1473T>G
|
rs540306659
|
|
NM_001375808.2(LPIN2):c.*1494G>A
|
rs577975091
|
|
NM_001375808.2(LPIN2):c.*1504T>C
|
rs751740607
|
|
NM_001375808.2(LPIN2):c.*1514G>A
|
rs544570644
|
|
NM_001375808.2(LPIN2):c.*217G>T
|
rs886053763
|
|
NM_001375808.2(LPIN2):c.*2216C>A
|
rs886053746
|
|
NM_001375808.2(LPIN2):c.*2685GAAAAA[1]
|
rs777601819
|
|
NM_001375808.2(LPIN2):c.*271T>G
|
rs2077028775
|
|
NM_001375808.2(LPIN2):c.*2759A>C
|
rs886053743
|
|
NM_001375808.2(LPIN2):c.*2787C>G
|
rs886053742
|
|
NM_001375808.2(LPIN2):c.*2830C>T
|
rs886053741
|
|
NM_001375808.2(LPIN2):c.*2831CA[1]
|
rs886053740
|
|
NM_001375808.2(LPIN2):c.*2890_*2893dup
|
rs540600202
|
|
NM_001375808.2(LPIN2):c.*362T>C
|
rs886053760
|
|
NM_001375808.2(LPIN2):c.*493G>A
|
rs886053758
|
|
NM_001375808.2(LPIN2):c.*507T>C
|
rs886053756
|
|
NM_001375808.2(LPIN2):c.*703dup
|
rs200435334
|
|
NM_001375808.2(LPIN2):c.*767A>G
|
rs886053754
|
|
NM_001375808.2(LPIN2):c.*772G>A
|
rs948592383
|
|
NM_001375808.2(LPIN2):c.*792G>C
|
rs542453339
|
|
NM_001375808.2(LPIN2):c.*796T>C
|
rs567530586
|
|
NM_001375808.2(LPIN2):c.*805C>G
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*805C>T
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*813A>C
|
rs547125074
|
|
NM_001375808.2(LPIN2):c.*855A>G
|
rs2077017832
|
|
NM_001375808.2(LPIN2):c.*90C>T
|
rs547359065
|
|
NM_001375808.2(LPIN2):c.-10+1354A>G
|
rs886053769
|
|
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln)
|
rs2077310038
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
NM_001375808.2(LPIN2):c.2016T>C (p.Cys672=)
|
rs2077101778
|
|
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr)
|
rs200256485
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
NM_001375808.2(LPIN2):c.2573A>G (p.Glu858Gly)
|
rs2077036512
|
|
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp)
|
rs746938405
|
|
NM_001375808.2(LPIN2):c.884A>T (p.Asn295Ile)
|
rs759046454
|
|
NM_001375808.2(LPIN2):c.932T>A (p.Val311Asp)
|
rs886053768
|
|
NM_001386140.1(MTTP):c.*1003T>C
|
rs796899519
|
|
NM_001386140.1(MTTP):c.*1044G>T
|
rs886058965
|
|
NM_001386140.1(MTTP):c.*219G>A
|
rs1358012798
|
|
NM_001386140.1(MTTP):c.*41A>G
|
rs886058959
|
|
NM_001386140.1(MTTP):c.*434G>A
|
rs1358561776
|
|
NM_001386140.1(MTTP):c.*454dup
|
rs545365701
|
|
NM_001386140.1(MTTP):c.*474T>C
|
rs960894922
|
|
NM_001386140.1(MTTP):c.*517A>T
|
rs886058964
|
|
NM_001386140.1(MTTP):c.*55G>C
|
rs192882987
|
|
NM_001386140.1(MTTP):c.*82G>A
|
rs886058960
|
|
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val)
|
rs137956833
|
|
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
|
rs72681995
|
|
NM_001386140.1(MTTP):c.1769+12T>C
|
rs767162951
|
|
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr)
|
rs767606327
|
|
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr)
|
rs1724921174
|
|
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser)
|
rs1037319735
|
|
NM_001386140.1(MTTP):c.927G>A (p.Arg309=)
|
rs1001965936
|
|
NM_001430.5(EPAS1):c.*1134T>C
|
rs886056100
|
|
NM_001430.5(EPAS1):c.*1373C>G
|
rs112031193
|
|
NM_001430.5(EPAS1):c.*1611A>G
|
rs571546536
|
|
NM_001430.5(EPAS1):c.*1898C>A
|
rs1337410292
|
|
NM_001430.5(EPAS1):c.*1916C>A
|
rs886056104
|
|
NM_001430.5(EPAS1):c.*1917G>A
|
rs748689684
|
|
NM_001430.5(EPAS1):c.*285C>G
|
rs1011091519
|
|
NM_001430.5(EPAS1):c.*537T>G
|
rs1449426162
|
|
NM_001430.5(EPAS1):c.*540del
|
rs75932330
|
|
NM_001430.5(EPAS1):c.*594A>G
|
rs886056093
|
|
NM_001430.5(EPAS1):c.*680dup
|
rs886056094
|
|
NM_001430.5(EPAS1):c.*715AG[1]
|
rs886056096
|
|
NM_001430.5(EPAS1):c.*733C>G
|
rs886056097
|
|
NM_001430.5(EPAS1):c.*983C>A
|
rs886056099
|
|
NM_001430.5(EPAS1):c.-111G>C
|
rs530436826
|
|
NM_001430.5(EPAS1):c.-138G>T
|
rs886056081
|
|
NM_001430.5(EPAS1):c.-255G>T
|
rs886056079
|
|
NM_001430.5(EPAS1):c.-401G>A
|
rs1682903258
|
|
NM_001430.5(EPAS1):c.-472G>A
|
rs886056075
|
|
NM_001430.5(EPAS1):c.1035-6del
|
rs757409274
|
|
NM_001430.5(EPAS1):c.1203C>A (p.Ala401=)
|
rs1254793733
|
|
NM_001430.5(EPAS1):c.1206G>A (p.Gln402=)
|
rs749851497
|
|
NM_001430.5(EPAS1):c.1263C>T (p.Phe421=)
|
rs142534349
|
|
NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala)
|
rs886056088
|
|
NM_001430.5(EPAS1):c.218-10_218-9insTC
|
rs1553394835
|
|
NM_001430.5(EPAS1):c.218-11_218-10insG
|
rs142684263
|
|
NM_001430.5(EPAS1):c.2392A>G (p.Arg798Gly)
|
rs541354758
|
|
NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp)
|
rs183095352
|
|
NM_001430.5(EPAS1):c.591C>A (p.Gly197=)
|
rs1392533284
|
|
NM_001430.5(EPAS1):c.861G>A (p.Glu287=)
|
rs886056085
|
|
NM_001710.5(CFB):c.-199T>C
|
rs1771399314
|
|
NM_001710.6(CFB):c.1524C>A (p.His508Gln)
|
rs138207668
|
|
NM_001710.6(CFB):c.1803G>A (p.Glu601=)
|
rs377025675
|
|
NM_001710.6(CFB):c.1889C>T (p.Ala630Val)
|
rs886061297
|
|
NM_001710.6(CFB):c.2069C>T (p.Ala690Val)
|
rs1403720810
|
|
NM_001710.6(CFB):c.334G>C (p.Gly112Arg)
|
rs950175817
|
|
NM_001710.6(CFB):c.656A>T (p.Gln219Leu)
|
rs886061295
|
|
NM_001754.5(RUNX1):c.*1293A>G
|
rs2056425227
|
|
NM_001754.5(RUNX1):c.*1295G>A
|
rs866560376
|
|
NM_001754.5(RUNX1):c.*1455A>G
|
rs886057042
|
|
NM_001754.5(RUNX1):c.*1938C>T
|
rs886057041
|
|
NM_001754.5(RUNX1):c.*1967G>A
|
rs1173833929
|
|
NM_001754.5(RUNX1):c.*2201T>G
|
rs902401401
|
|
NM_001754.5(RUNX1):c.*2517TG[8]
|
rs139307340
|
|
NM_001754.5(RUNX1):c.*2594_*2597del
|
rs886057036
|
|
NM_001754.5(RUNX1):c.*260C>A
|
rs963200707
|
|
NM_001754.5(RUNX1):c.*2678A>G
|
rs886057035
|
|
NM_001754.5(RUNX1):c.*267C>A
|
rs1014918053
|
|
NM_001754.5(RUNX1):c.*2912A>G
|
rs2056405969
|
|
NM_001754.5(RUNX1):c.*3028T>C
|
rs1601327092
|
|
NM_001754.5(RUNX1):c.*3281G>T
|
rs2056401435
|
|
NM_001754.5(RUNX1):c.*3642C>T
|
rs2056396161
|
|
NM_001754.5(RUNX1):c.*4003C>T
|
rs886057030
|
|
NM_001754.5(RUNX1):c.*463C>T
|
rs1601330615
|
|
NM_001754.5(RUNX1):c.*467T>C
|
rs2056436218
|
|
NM_001754.5(RUNX1):c.*682dup
|
rs886057044
|
|
NM_001754.5(RUNX1):c.*801A>C
|
rs1352217442
|
|
NM_001754.5(RUNX1):c.*821G>A
|
rs968985577
|
|
NM_001754.5(RUNX1):c.*917del
|
rs780068987
|
|
NM_001754.5(RUNX1):c.-62G>A
|
rs550878860
|
|
NM_001754.5(RUNX1):c.-67G>A
|
rs886057048
|
|
NM_001754.5(RUNX1):c.1004A>G (p.Gln335Arg)
|
rs928106783
|
|
NM_001754.5(RUNX1):c.1422G>T (p.Glu474Asp)
|
rs886057047
|
|
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu)
|
rs1473182680
|
|
NM_001754.5(RUNX1):c.736A>G (p.Thr246Ala)
|
rs2057112296
|
|
NM_001770.6(CD19):c.*11G>A
|
rs535901247
|
|
NM_001770.6(CD19):c.*71C>T
|
rs886051888
|
|
NM_001770.6(CD19):c.1580-14C>T
|
rs376505803
|
|
NM_001770.6(CD19):c.17T>G (p.Leu6Arg)
|
rs886051886
|
|
NM_001770.6(CD19):c.246T>C (p.Leu82=)
|
rs1964665391
|
|
NM_001770.6(CD19):c.530G>C (p.Arg177Thr)
|
rs1567504893
|
|
NM_001770.6(CD19):c.61G>C (p.Glu21Gln)
|
rs771929657
|
|
NM_001814.6(CTSC):c.*350A>G
|
rs1944265493
|
|
NM_001814.6(CTSC):c.*414A>G
|
rs953848453
|
|
NM_001814.6(CTSC):c.-23C>G
|
rs886048743
|
|
NM_001814.6(CTSC):c.-55C>T
|
|
|
NM_001814.6(CTSC):c.-7C>A
|
rs770352776
|
|
NM_001814.6(CTSC):c.1038C>T (p.His346=)
|
rs1355697311
|
|
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala)
|
rs1197515579
|
|
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys)
|
rs886048738
|
|
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys)
|
rs201519830
|
|
NM_001814.6(CTSC):c.173-19dup
|
rs11326739
|
|
NM_001814.6(CTSC):c.173-6del
|
rs372892181
|
|
NM_001814.6(CTSC):c.386T>A (p.Val129Glu)
|
rs760130711
|
|
NM_001814.6(CTSC):c.729C>T (p.Ile243=)
|
rs766063253
|
|
NM_001814.6(CTSC):c.757+6A>T
|
rs886048741
|
|
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly)
|
rs886048740
|
|
NM_001814.6(CTSC):c.954A>G (p.Glu318=)
|
rs886048739
|
|
NM_001994.3(F13B):c.1106T>C (p.Leu369Pro)
|
rs1655669695
|
|
NM_001994.3(F13B):c.1317C>T (p.Cys439=)
|
rs149466650
|
|
NM_001994.3(F13B):c.1556-13C>A
|
rs149088047
|
|
NM_001994.3(F13B):c.1739-8_1739-6del
|
rs556380704
|
|
NM_001994.3(F13B):c.1961C>T (p.Ser654Phe)
|
rs561359007
|
|
NM_001994.3(F13B):c.815A>G (p.Asn272Ser)
|
rs1655688114
|
|
NM_001994.3(F13B):c.874T>G (p.Tyr292Asp)
|
rs1247793701
|
|
NM_001994.3(F13B):c.889A>C (p.Ile297Leu)
|
rs1655684285
|
|
NM_001994.3(F13B):c.96T>C (p.Asn32=)
|
rs1655924673
|
|
NM_002203.4(ITGA2):c.*1044_*1045dup
|
rs886060671
|
|
NM_002203.4(ITGA2):c.*1449T>C
|
rs1740450196
|
|
NM_002203.4(ITGA2):c.*1957G>C
|
rs1740479829
|
|
NM_002203.4(ITGA2):c.*1980T>C
|
rs1740480277
|
|
NM_002203.4(ITGA2):c.*2009C>A
|
rs1388184739
|
|
NM_002203.4(ITGA2):c.*2039_*2041del
|
rs35863692
|
|
NM_002203.4(ITGA2):c.*2089G>C
|
rs886060674
|
|
NM_002203.4(ITGA2):c.*2268dup
|
rs533206560
|
|
NM_002203.4(ITGA2):c.*2414G>A
|
rs200790251
|
|
NM_002203.4(ITGA2):c.*2429C>T
|
rs886060677
|
|
NM_002203.4(ITGA2):c.*2450G>A
|
rs886060678
|
|
NM_002203.4(ITGA2):c.*2529_*2532del
|
rs886060680
|
|
NM_002203.4(ITGA2):c.*2653T>G
|
rs886060682
|
|
NM_002203.4(ITGA2):c.*2690G>C
|
rs1740529330
|
|
NM_002203.4(ITGA2):c.*3164del
|
rs886060687
|
|
NM_002203.4(ITGA2):c.*3404T>C
|
rs1183806468
|
|
NM_002203.4(ITGA2):c.*3594_*3597delinsTTTATAAACAACTTTGTAGGACT
|
rs886060690
|
|
NM_002203.4(ITGA2):c.*3597A>T
|
rs72760448
|
|
NM_002203.4(ITGA2):c.*3599_*3600insTATATAAACAACTTTGTAGGACTAT
|
rs57674800
|
|
NM_002203.4(ITGA2):c.*3599_*3600insTTATAAACAACTTTGTAGGACTAT
|
rs57674800
|
|
NM_002203.4(ITGA2):c.*3813G>A
|
rs1740598174
|
|
NM_002203.4(ITGA2):c.*3996G>T
|
rs566829678
|
|
NM_002203.4(ITGA2):c.*422C>T
|
rs1740392086
|
|
NM_002203.4(ITGA2):c.*483G>A
|
rs1034269446
|
|
NM_002203.4(ITGA2):c.*483del
|
rs886060667
|
|
NM_002203.4(ITGA2):c.*609T>G
|
rs886060668
|
|
NM_002203.4(ITGA2):c.*60G>A
|
rs886060663
|
|
NM_002203.4(ITGA2):c.*60G>T
|
rs886060663
|
|
NM_002203.4(ITGA2):c.*661T>A
|
rs1740405266
|
|
NM_002203.4(ITGA2):c.*722T>C
|
rs1740412814
|
|
NM_002203.4(ITGA2):c.*803G>C
|
rs1740416494
|
|
NM_002203.4(ITGA2):c.*850_*854del
|
rs752068879
|
|
NM_002203.4(ITGA2):c.-99G>C
|
rs886060656
|
|
NM_002203.4(ITGA2):c.1441G>A (p.Ala481Thr)
|
rs1744884286
|
|
NM_002203.4(ITGA2):c.1602+15dup
|
rs545988273
|
|
NM_002203.4(ITGA2):c.2069A>G (p.Gln690Arg)
|
rs886060660
|
|
NM_002203.4(ITGA2):c.2235G>T (p.Gln745His)
|
rs267606593
|
|
NM_002203.4(ITGA2):c.2796C>G (p.Leu932=)
|
rs1745609993
|
|
NM_002203.4(ITGA2):c.2914A>T (p.Ile972Phe)
|
rs768656331
|
|
NM_002203.4(ITGA2):c.3110del (p.Phe1037fs)
|
rs886060662
|
|
NM_002473.6(MYH9):c.*107A>G
|
rs886057476
|
|
NM_002473.6(MYH9):c.*1099A>T
|
rs886057471
|
|
NM_002473.6(MYH9):c.*1193A>G
|
rs886057470
|
|
NM_002473.6(MYH9):c.*198dup
|
rs886057475
|
|
NM_002473.6(MYH9):c.*248C>T
|
rs2016505869
|
|
NM_002473.6(MYH9):c.*273C>T
|
rs1021214858
|
|
NM_002473.6(MYH9):c.*639C>T
|
rs554451749
|
|
NM_002473.6(MYH9):c.*975A>G
|
rs886057473
|
|
NM_002473.6(MYH9):c.-163C>G
|
rs886057486
|
|
NM_002473.6(MYH9):c.-86G>T
|
rs2018382496
|
|
NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser)
|
rs1464752413
|
|
NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu)
|
rs56001030
|
|
NM_002473.6(MYH9):c.115A>G (p.Ser39Gly)
|
rs2017727253
|
|
NM_002473.6(MYH9):c.1273A>T (p.Met425Leu)
|
rs961182177
|
|
NM_002473.6(MYH9):c.1539C>A (p.Asp513Glu)
|
rs886057484
|
|
NM_002473.6(MYH9):c.1555-15C>T
|
rs2017076105
|
|
NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr)
|
rs2017075745
|
|
NM_002473.6(MYH9):c.2038-4C>G
|
rs200135917
|
|
NM_002473.6(MYH9):c.2230-11C>A
|
rs374467213
|
|
NM_002473.6(MYH9):c.2391-7C>T
|
rs886057483
|
|
NM_002473.6(MYH9):c.2632-8_2632-6del
|
rs773975934
|
|
NM_002473.6(MYH9):c.2653C>T (p.Leu885=)
|
rs2016868693
|
|
NM_002473.6(MYH9):c.3136C>G (p.Leu1046Val)
|
rs886057482
|
|
NM_002473.6(MYH9):c.333+14G>A
|
rs768688000
|
|
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln)
|
rs200697030
|
|
NM_002473.6(MYH9):c.3884A>G (p.Lys1295Arg)
|
rs886057480
|
|
NM_002473.6(MYH9):c.4126A>G (p.Ser1376Gly)
|
rs771692651
|
|
NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly)
|
rs2016713858
|
|
NM_002473.6(MYH9):c.445C>A (p.His149Asn)
|
rs2017588115
|
|
NM_002473.6(MYH9):c.4466T>C (p.Met1489Thr)
|
rs2016643084
|
|
NM_002473.6(MYH9):c.4474A>G (p.Lys1492Glu)
|
rs750188842
|
|
NM_002473.6(MYH9):c.448A>G (p.Ile150Val)
|
rs2017587954
|
|
NM_002473.6(MYH9):c.4654G>A (p.Glu1552Lys)
|
rs886057479
|
|
NM_002473.6(MYH9):c.4855C>T (p.Leu1619=)
|
rs778679056
|
|
NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp)
|
rs1035118799
|
|
NM_002473.6(MYH9):c.5050C>T (p.Gln1684Ter)
|
rs1569534723
|
|
NM_002473.6(MYH9):c.519-10del
|
rs754795681
|
|
NM_002473.6(MYH9):c.5271G>T (p.Leu1757=)
|
rs886057478
|
|
NM_002658.6(PLAU):c.*176G>T
|
rs886047209
|
|
NM_002658.6(PLAU):c.*3G>A
|
rs886047208
|
|
NM_002658.6(PLAU):c.*538G>A
|
rs185856064
|
|
NM_002658.6(PLAU):c.*688C>T
|
rs886047211
|
|
NM_002658.6(PLAU):c.-41G>A
|
rs886047204
|
|
NM_002658.6(PLAU):c.316G>C (p.Ala106Pro)
|
rs886047206
|
|
NM_002658.6(PLAU):c.581C>A (p.Ala194Glu)
|
rs145865648
|
|
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)
|
rs1249124159
|
|
NM_002658.6(PLAU):c.750G>C (p.Gly250=)
|
rs886047207
|
|
NM_002693.3(POLG):c.*49G>A
|
rs758880377
|
|
NM_002693.3(POLG):c.3644-178_3644-176dup
|
rs1555452148
|
|
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)
|
rs144346886
|
|
NM_003126.4(SPTA1):c.*133C>T
|
rs868674912
|
|
NM_003126.4(SPTA1):c.*134T>G
|
rs866529035
|
|
NM_003126.4(SPTA1):c.*296G>T
|
rs886045377
|
|
NM_003126.4(SPTA1):c.*323T>C
|
rs867404163
|
|
NM_003126.4(SPTA1):c.*420T>A
|
rs1197068796
|
|
NM_003126.4(SPTA1):c.*509G>T
|
rs1649201828
|
|
NM_003126.4(SPTA1):c.1554T>C (p.His518=)
|
rs886045392
|
|
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.2015T>C (p.Leu672Ser)
|
rs886045389
|
|
NM_003126.4(SPTA1):c.2039-15T>C
|
rs886045388
|
|
NM_003126.4(SPTA1):c.204G>C (p.Trp68Cys)
|
rs1655076780
|
|
NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser)
|
rs201048261
|
|
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=)
|
rs199815523
|
|
NM_003126.4(SPTA1):c.2187C>G (p.His729Gln)
|
rs780083079
|
|
NM_003126.4(SPTA1):c.2244C>T (p.Asp748=)
|
rs886045387
|
|
NM_003126.4(SPTA1):c.2365C>G (p.Leu789Val)
|
rs779283627
|
|
NM_003126.4(SPTA1):c.2461C>A (p.Leu821Ile)
|
rs886045386
|
|
NM_003126.4(SPTA1):c.2464+13T>G
|
rs1653313076
|
|
NM_003126.4(SPTA1):c.2479G>C (p.Ala827Pro)
|
rs755782111
|
|
NM_003126.4(SPTA1):c.25G>T (p.Val9Phe)
|
rs111321033
|
|
NM_003126.4(SPTA1):c.2846A>G (p.Asn949Ser)
|
rs576741169
|
|
NM_003126.4(SPTA1):c.2899-10T>A
|
rs1652706512
|
|
NM_003126.4(SPTA1):c.3292A>C (p.Ile1098Leu)
|
rs748421324
|
|
NM_003126.4(SPTA1):c.3660T>C (p.Ala1220=)
|
rs886045385
|
|
NM_003126.4(SPTA1):c.410G>A (p.Arg137His)
|
rs200716254
|
|
NM_003126.4(SPTA1):c.4224G>C (p.Glu1408Asp)
|
rs773758018
|
|
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)
|
rs145288947
|
|
NM_003126.4(SPTA1):c.4849C>A (p.Arg1617=)
|
rs745646823
|
|
NM_003126.4(SPTA1):c.4857T>C (p.Phe1619=)
|
rs764566377
|
|
NM_003126.4(SPTA1):c.4875+12C>T
|
rs139797540
|
|
NM_003126.4(SPTA1):c.4969T>C (p.Leu1657=)
|
rs772817383
|
|
NM_003126.4(SPTA1):c.5304C>T (p.Ala1768=)
|
rs886045383
|
|
NM_003126.4(SPTA1):c.5581C>A (p.His1861Asn)
|
rs886045381
|
|
NM_003126.4(SPTA1):c.5911-3C>T
|
rs886045380
|
|
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His)
|
rs199993378
|
|
NM_003126.4(SPTA1):c.6172T>G (p.Trp2058Gly)
|
rs2101760861
|
|
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu)
|
rs754206036
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003126.4(SPTA1):c.6989+8C>A
|
rs1185409461
|
|
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
|
rs150007668
|
|
NM_003126.4(SPTA1):c.958-12T>C
|
rs1654391231
|
|
NM_003664.4(AP3B1):c.-126C>G
|
rs760008097
|
|
NM_003664.5(AP3B1):c.*191C>G
|
rs6864605
|
|
NM_003664.5(AP3B1):c.*380G>A
|
rs911081557
|
|
NM_003664.5(AP3B1):c.*380G>C
|
rs911081557
|
|
NM_003664.5(AP3B1):c.*552TAAA[1]
|
rs886060767
|
|
NM_003664.5(AP3B1):c.*69dup
|
rs886060769
|
|
NM_003664.5(AP3B1):c.-115G>A
|
rs886060776
|
|
NM_003664.5(AP3B1):c.-83G>C
|
rs774869942
|
|
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile)
|
rs757985695
|
|
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val)
|
rs1743584840
|
|
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=)
|
rs954170484
|
|
NM_003664.5(AP3B1):c.1392T>G (p.Val464=)
|
rs886060774
|
|
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn)
|
rs1752586022
|
|
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala)
|
rs749489841
|
|
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe)
|
rs886060773
|
|
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn)
|
rs886060772
|
|
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn)
|
rs532221135
|
|
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly)
|
rs886060771
|
|
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro)
|
rs1002296977
|
|
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly)
|
rs886060770
|
|
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
|
rs1397315776
|
|
NM_003664.5(AP3B1):c.720G>A (p.Gly240=)
|
rs886060775
|
|
NM_003664.5(AP3B1):c.786+6T>A
|
rs1332793203
|
|
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys)
|
rs1744368521
|
|
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val)
|
rs758789954
|
|
NM_003998.4(NFKB1):c.724G>C (p.Asp242His)
|
rs2149184850
|
|
NM_004629.2(FANCG):c.*77C>T
|
rs1829028329
|
|
NM_004629.2(FANCG):c.-182del
|
rs886063899
|
|
NM_004629.2(FANCG):c.1002A>T (p.Leu334=)
|
rs984958735
|
|
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu)
|
rs1829085768
|
|
NM_004629.2(FANCG):c.1152A>C (p.Pro384=)
|
rs1487531031
|
|
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
|
rs141147618
|
|
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser)
|
rs1829066600
|
|
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)
|
rs1829061760
|
|
NM_004629.2(FANCG):c.161dup (p.His55fs)
|
rs886063898
|
|
NM_004629.2(FANCG):c.1689G>C (p.Arg563=)
|
rs138855718
|
|
NM_004629.2(FANCG):c.292C>A (p.Arg98=)
|
rs532525154
|
|
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
|
|
|
NM_004629.2(FANCG):c.736G>T (p.Val246Phe)
|
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
NM_005026.5(PIK3CD):c.1579G>A (p.Glu527Lys)
|
rs749871179
|
|
NM_005141.5(FGB):c.*1204T>C
|
rs1447745807
|
|
NM_005141.5(FGB):c.*1252A>C
|
rs1730444171
|
|
NM_005141.5(FGB):c.*1409C>A
|
rs886059144
|
|
NM_005141.5(FGB):c.*1544T>C
|
rs886059147
|
|
NM_005141.5(FGB):c.*1639T>C
|
rs1026178982
|
|
NM_005141.5(FGB):c.*1998A>G
|
rs886059149
|
|
NM_005141.5(FGB):c.*277A>G
|
rs1466304617
|
|
NM_005141.5(FGB):c.*361A>T
|
rs886059143
|
|
NM_005141.5(FGB):c.*496G>A
|
rs557290052
|
|
NM_005141.5(FGB):c.*801A>G
|
rs1578787077
|
|
NM_005141.5(FGB):c.*835del
|
rs768727295
|
|
NM_005141.5(FGB):c.114+11del
|
rs779228767
|
|
NM_005141.5(FGB):c.1292G>T (p.Gly431Val)
|
rs779328318
|
|
NM_005141.5(FGB):c.169C>T (p.Pro57Ser)
|
rs971404907
|
|
NM_005141.5(FGB):c.210C>T (p.Gly70=)
|
rs933834957
|
|
NM_005141.5(FGB):c.254T>C (p.Val85Ala)
|
rs775809959
|
|
NM_005142.3(CBLIF):c.1074-14A>G
|
rs541611142
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter)
|
rs1565210437
|
|
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr)
|
rs886048404
|
|
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys)
|
rs1866524413
|
|
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn)
|
rs886048403
|
|
NM_005263.5(GFI1):c.5C>T (p.Pro2Leu)
|
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[16]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[17]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[20]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[22]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[23]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[25]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT
|
rs766365921
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
NM_005373.3(MPL):c.*1216A>G
|
rs886046356
|
|
NM_005373.3(MPL):c.*1351T>C
|
rs886046357
|
|
NM_005373.3(MPL):c.*1506G>C
|
rs115780311
|
|
NM_005373.3(MPL):c.*170G>A
|
rs574563778
|
|
NM_005373.3(MPL):c.*326A>C
|
rs1647104727
|
|
NM_005373.3(MPL):c.*701_*705dup
|
rs752218261
|
|
NM_005373.3(MPL):c.*705del
|
rs752218261
|
|
NM_005373.3(MPL):c.*725T>C
|
rs1647108363
|
|
NM_005373.3(MPL):c.*924C>G
|
rs886046354
|
|
NM_005373.3(MPL):c.1527C>A (p.Gly509=)
|
rs1570472144
|
|
NM_005373.3(MPL):c.196C>T (p.Leu66=)
|
rs886046349
|
|
NM_005373.3(MPL):c.442G>C (p.Gly148Arg)
|
rs1647014391
|
|
NM_005373.3(MPL):c.49C>T (p.Pro17Ser)
|
rs1647004869
|
|
NM_005373.3(MPL):c.611C>T (p.Ser204Phe)
|
rs1647015861
|
|
NM_005476.7(GNE):c.*1012CA[10]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[14]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[15]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[16]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[22]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1127C>T
|
rs1828268117
|
|
NM_005476.7(GNE):c.*1694G>C
|
rs886063918
|
|
NM_005476.7(GNE):c.*1854C>T
|
rs1828233358
|
|
NM_005476.7(GNE):c.*2185T>A
|
rs1828216707
|
|
NM_005476.7(GNE):c.*2410G>C
|
rs886063917
|
|
NM_005476.7(GNE):c.*2905_*2906del
|
rs886063913
|
|
NM_005476.7(GNE):c.*292C>G
|
rs1335595008
|
|
NM_005476.7(GNE):c.*663A>G
|
rs1373838375
|
|
NM_005476.7(GNE):c.*690T>A
|
rs10972792
|
|
NM_005476.7(GNE):c.*692AAT[10]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[12]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[13]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[9]
|
rs113316798
|
|
NM_005476.7(GNE):c.*693A>T
|
rs886063922
|
|
NM_005476.7(GNE):c.*694T>A
|
rs867926432
|
|
NM_005476.7(GNE):c.*702dup
|
rs886063921
|
|
NM_005476.7(GNE):c.*988G>C
|
rs916769105
|
|
NM_005476.7(GNE):c.1281+13C>A
|
rs1022557448
|
|
NM_005476.7(GNE):c.1482G>A (p.Glu494=)
|
rs1485580233
|
|
NM_005476.7(GNE):c.1816+11del
|
rs886063925
|
|
NM_005476.7(GNE):c.315T>C (p.Asp105=)
|
rs886063927
|
|
NM_005476.7(GNE):c.753T>C (p.Phe251=)
|
rs370479900
|
|
NM_005476.7(GNE):c.769+4A>G
|
rs886063926
|
|
NM_005570.4(LMAN1):c.*1164A>G
|
rs2070737289
|
|
NM_005570.4(LMAN1):c.*1305A>G
|
rs886054036
|
|
NM_005570.4(LMAN1):c.*1390T>C
|
rs566011013
|
|
NM_005570.4(LMAN1):c.*1390T>G
|
rs566011013
|
|
NM_005570.4(LMAN1):c.*1452_*1455del
|
rs886054035
|
|
NM_005570.4(LMAN1):c.*1556C>G
|
rs2070734881
|
|
NM_005570.4(LMAN1):c.*21T>G
|
rs2298713
|
|
NM_005570.4(LMAN1):c.*2259A>T
|
rs886054032
|
|
NM_005570.4(LMAN1):c.*2602G>T
|
rs886054031
|
|
NM_005570.4(LMAN1):c.*2923C>T
|
rs561819154
|
|
NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg)
|
rs750667779
|
|
NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu)
|
rs1010921896
|
|
NM_005570.4(LMAN1):c.477+10T>C
|
rs547944681
|
|
NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys)
|
rs886054038
|
|
NM_005570.4(LMAN1):c.663A>G (p.Thr221=)
|
rs368261071
|
|
NM_006118.3(HAX1):c.-150A>T
|
rs544123058
|
|
NM_006118.4(HAX1):c.*1C>G
|
rs747961567
|
|
NM_006118.4(HAX1):c.*80C>T
|
rs912619566
|
|
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro)
|
rs761500862
|
|
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp)
|
rs1684906279
|
|
NM_006118.4(HAX1):c.659A>T (p.Asp220Val)
|
rs1684907371
|
|
NM_006118.4(HAX1):c.677G>A (p.Arg226His)
|
rs750920845
|
|
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)
|
rs377331781
|
|
NM_006206.5(PDGFRA):c.-284G>T
|
rs145549583
|
|
NM_006206.6(PDGFRA):c.*1039A>G
|
rs981481475
|
|
NM_006206.6(PDGFRA):c.*1050C>T
|
rs1560497216
|
|
NM_006206.6(PDGFRA):c.*1109_*1111del
|
rs34529347
|
|
NM_006206.6(PDGFRA):c.*1111del
|
rs34529347
|
|
NM_006206.6(PDGFRA):c.*1112_*1113del
|
rs886059456
|
|
NM_006206.6(PDGFRA):c.*1133T>C
|
rs1577757730
|
|
NM_006206.6(PDGFRA):c.*1821A>C
|
rs187821520
|
|
NM_006206.6(PDGFRA):c.*2226C>A
|
rs556595868
|
|
NM_006206.6(PDGFRA):c.*2281C>A
|
rs1724934694
|
|
NM_006206.6(PDGFRA):c.*2494C>A
|
rs886059461
|
|
NM_006206.6(PDGFRA):c.*2856A>G
|
rs886059463
|
|
NM_006206.6(PDGFRA):c.*374A>T
|
rs3690
|
|
NM_006206.6(PDGFRA):c.*574_*575del
|
rs886059451
|
|
NM_006206.6(PDGFRA):c.*590C>A
|
rs993682652
|
|
NM_006206.6(PDGFRA):c.*791A>T
|
rs1724865504
|
|
NM_006206.6(PDGFRA):c.*970CAAA[1]
|
rs757111915
|
|
NM_006206.6(PDGFRA):c.*998C>G
|
rs1006360272
|
|
NM_006206.6(PDGFRA):c.1365-12T>C
|
rs886059445
|
|
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)
|
rs1723603076
|
|
NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro)
|
rs1723641220
|
|
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=)
|
rs886059446
|
|
NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn)
|
rs1723832515
|
|
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)
|
rs773679384
|
|
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)
|
rs886059443
|
|
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)
|
rs771421611
|
|
NM_006206.6(PDGFRA):c.2674+6G>A
|
rs886059448
|
|
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)
|
rs1724822643
|
|
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)
|
rs1461385164
|
|
NM_006206.6(PDGFRA):c.954A>G (p.Lys318=)
|
rs886059444
|
|
NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala)
|
rs878854837
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006363.5(SEC23B):c.-283C>T
|
rs886056522
|
|
NM_006363.5(SEC23B):c.-301G>A
|
rs886056521
|
|
NM_006363.5(SEC23B):c.-94C>G
|
rs886056523
|
|
NM_006363.6(SEC23B):c.*178C>T
|
rs2060486772
|
|
NM_006363.6(SEC23B):c.*292T>G
|
rs886056526
|
|
NM_006363.6(SEC23B):c.*308A>G
|
rs2060487651
|
|
NM_006363.6(SEC23B):c.*493A>G
|
rs886056527
|
|
NM_006363.6(SEC23B):c.-8T>C
|
rs766083236
|
|
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu)
|
rs535355543
|
|
NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr)
|
rs2059977778
|
|
NM_006363.6(SEC23B):c.2244T>C (p.Asp748=)
|
rs748290215
|
|
NM_006363.6(SEC23B):c.708C>A (p.His236Gln)
|
rs748683327
|
|
NM_006363.6(SEC23B):c.791G>A (p.Arg264Gln)
|
rs148239360
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser)
|
rs1970419176
|
|
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys)
|
rs1232742005
|
|
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr)
|
rs1970432271
|
|
NM_006657.3(FTCD):c.*113C>T
|
rs886057173
|
|
NM_006657.3(FTCD):c.*127C>A
|
rs538433909
|
|
NM_006657.3(FTCD):c.*67C>T
|
rs139773262
|
|
NM_006846.4(SPINK5):c.-10C>T
|
rs778902700
|
|
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn)
|
rs1266893770
|
|
NM_006846.4(SPINK5):c.1605G>A (p.Val535=)
|
rs201831966
|
|
NM_006846.4(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs)
|
rs1561693720
|
|
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg)
|
rs770045852
|
|
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro)
|
rs1754030459
|
|
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile)
|
rs1398660016
|
|
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp)
|
rs778017808
|
|
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
|
rs1452834406
|
|
NM_006846.4(SPINK5):c.2666+4C>T
|
rs376671081
|
|
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser)
|
rs1483638724
|
|
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp)
|
rs192473184
|
|
NM_006846.4(SPINK5):c.628C>A (p.Arg210=)
|
rs535512727
|
|
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys)
|
rs371290967
|
|
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn)
|
rs755830397
|
|
NM_006947.4(SRP72):c.*1227_*1232del
|
rs886059502
|
|
NM_006947.4(SRP72):c.*125GT[1]
|
rs886059498
|
|
NM_006947.4(SRP72):c.*142A>G
|
rs878964615
|
|
NM_006947.4(SRP72):c.*1769T>G
|
rs886059504
|
|
NM_006947.4(SRP72):c.*407T>C
|
rs541665813
|
|
NM_006947.4(SRP72):c.*606AT[10]
|
rs201131530
|
|
NM_006947.4(SRP72):c.*633T>C
|
rs867120149
|
|
NM_006947.4(SRP72):c.*637TA[11]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[7]
|
rs35852754
|
|
NM_006947.4(SRP72):c.*637TA[9]
|
rs35852754
|
|
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)
|
rs1721270142
|
|
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)
|
rs772592244
|
|
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)
|
rs1040868057
|
|
NM_006996.3(SLC19A2):c.*1349T>C
|
rs1657943320
|
|
NM_006996.3(SLC19A2):c.*1493G>A
|
rs886045524
|
|
NM_006996.3(SLC19A2):c.*1523A>G
|
rs886045523
|
|
NM_006996.3(SLC19A2):c.*1539CTGT[1]
|
rs886045522
|
|
NM_006996.3(SLC19A2):c.*1543C>G
|
rs1657937297
|
|
NM_006996.3(SLC19A2):c.*1588T>G
|
rs886045521
|
|
NM_006996.3(SLC19A2):c.*174C>G
|
rs1657969443
|
|
NM_006996.3(SLC19A2):c.*1901AATA[1]
|
rs745730912
|
|
NM_006996.3(SLC19A2):c.*255A>T
|
rs562829928
|
|
NM_006996.3(SLC19A2):c.*390T>G
|
rs886045528
|
|
NM_006996.3(SLC19A2):c.*440T>C
|
rs1657963505
|
|
NM_006996.3(SLC19A2):c.*712dup
|
rs886045526
|
|
NM_006996.3(SLC19A2):c.*898_*899del
|
rs886045525
|
|
NM_006996.3(SLC19A2):c.-103G>A
|
rs886045532
|
|
NM_006996.3(SLC19A2):c.-163G>T
|
rs886045533
|
|
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile)
|
rs754002628
|
|
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=)
|
rs1198335067
|
|
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr)
|
rs369937650
|
|
NM_006996.3(SLC19A2):c.205-25_205-24dup
|
rs755410874
|
|
NM_006996.3(SLC19A2):c.205-25dup
|
rs755410874
|
|
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His)
|
rs558617037
|
|
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys)
|
rs758126745
|
|
NM_006996.3(SLC19A2):c.808-1G>A
|
rs1557889336
|
|
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro)
|
rs886045529
|
|
NM_012092.4(ICOS):c.*1025A>T
|
rs77882417
|
|
NM_012092.4(ICOS):c.*1093C>T
|
rs886055499
|
|
NM_012092.4(ICOS):c.*1172G>A
|
rs1581609062
|
|
NM_012092.4(ICOS):c.*1901A>G
|
rs1690178448
|
|
NM_012092.4(ICOS):c.*474G>T
|
rs558652067
|
|
NM_012092.4(ICOS):c.*977T>G
|
rs886055498
|
|
NM_012092.4(ICOS):c.184C>T (p.Leu62Phe)
|
rs886055496
|
|
NM_012092.4(ICOS):c.495A>C (p.Thr165=)
|
rs565719501
|
|
NM_012388.4(BLOC1S6):c.*274TG[1]
|
rs766946085
|
|
NM_012388.4(BLOC1S6):c.*2818ACAA[4]
|
rs376870196
|
|
NM_014915.3(ANKRD26):c.*1029G>A
|
rs1045894805
|
|
NM_014915.3(ANKRD26):c.*1169C>T
|
rs1589194013
|
|
NM_014915.3(ANKRD26):c.*1170G>A
|
rs886046939
|
|
NM_014915.3(ANKRD26):c.*1174C>G
|
rs886046938
|
|
NM_014915.3(ANKRD26):c.*142G>A
|
rs886046942
|
|
NM_014915.3(ANKRD26):c.*170G>A
|
rs377417678
|
|
NM_014915.3(ANKRD26):c.*566G>T
|
rs149300287
|
|
NM_014915.3(ANKRD26):c.*595G>A
|
rs374615840
|
|
NM_014915.3(ANKRD26):c.-138C>A
|
rs886046950
|
|
NM_014915.3(ANKRD26):c.1269+7T>A
|
rs201014646
|
|
NM_014915.3(ANKRD26):c.1269+8_1269+12del
|
rs199920305
|
|
NM_014915.3(ANKRD26):c.1364-17_1364-15del
|
rs150168938
|
|
NM_014915.3(ANKRD26):c.1727del (p.Asp576fs)
|
rs886046946
|
|
NM_014915.3(ANKRD26):c.1787C>T (p.Pro596Leu)
|
rs2054550014
|
|
NM_014915.3(ANKRD26):c.1986-3dup
|
rs113123391
|
|
NM_014915.3(ANKRD26):c.3053A>G (p.His1018Arg)
|
rs2054011229
|
|
NM_014915.3(ANKRD26):c.319A>G (p.Asn107Asp)
|
rs777897967
|
|
NM_014915.3(ANKRD26):c.3216A>G (p.Lys1072=)
|
rs1010361619
|
|
NM_014915.3(ANKRD26):c.3218T>C (p.Leu1073Pro)
|
rs2054004758
|
|
NM_014915.3(ANKRD26):c.3896C>A (p.Ala1299Asp)
|
rs1429452589
|
|
NM_014915.3(ANKRD26):c.3940G>A (p.Glu1314Lys)
|
rs886046945
|
|
NM_014915.3(ANKRD26):c.4595A>G (p.Asp1532Gly)
|
rs2053228815
|
|
NM_014915.3(ANKRD26):c.4808C>G (p.Thr1603Ser)
|
rs886046944
|
|
NM_014915.3(ANKRD26):c.50C>T (p.Ala17Val)
|
rs886046948
|
|
NM_014915.3(ANKRD26):c.565G>A (p.Gly189Arg)
|
rs2056331522
|
|
NM_014915.3(ANKRD26):c.789C>G (p.Asp263Glu)
|
rs777702991
|
|
NM_014915.3(ANKRD26):c.983_986del (p.Ile328fs)
|
rs749858810
|
|
NM_015175.3(NBEAL2):c.*151dup
|
rs886058608
|
|
NM_015175.3(NBEAL2):c.*246T>C
|
rs1575635919
|
|
NM_015175.3(NBEAL2):c.*37C>G
|
rs886058607
|
|
NM_015175.3(NBEAL2):c.-120C>G
|
rs1011004600
|
|
NM_015175.3(NBEAL2):c.-14_-9dup
|
rs764010884
|
|
NM_015175.3(NBEAL2):c.1081A>G (p.Thr361Ala)
|
rs769842468
|
|
NM_015175.3(NBEAL2):c.1271G>A (p.Arg424Gln)
|
rs768145657
|
|
NM_015175.3(NBEAL2):c.1532G>C (p.Arg511Pro)
|
rs770721155
|
|
NM_015175.3(NBEAL2):c.1907C>T (p.Thr636Ile)
|
rs564164512
|
|
NM_015175.3(NBEAL2):c.1985A>G (p.Tyr662Cys)
|
rs1171833737
|
|
NM_015175.3(NBEAL2):c.2219C>A (p.Thr740Lys)
|
rs886058594
|
|
NM_015175.3(NBEAL2):c.2686C>A (p.Leu896Met)
|
rs371538211
|
|
NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr)
|
rs769080091
|
|
NM_015175.3(NBEAL2):c.3170G>C (p.Arg1057Pro)
|
rs371048264
|
|
NM_015175.3(NBEAL2):c.3253G>A (p.Asp1085Asn)
|
rs772177163
|
|
NM_015175.3(NBEAL2):c.3327C>T (p.Asp1109=)
|
rs143491739
|
|
NM_015175.3(NBEAL2):c.3414C>T (p.Ala1138=)
|
rs886058597
|
|
NM_015175.3(NBEAL2):c.3728T>C (p.Leu1243Pro)
|
rs753466927
|
|
NM_015175.3(NBEAL2):c.4121G>A (p.Gly1374Asp)
|
rs886058598
|
|
NM_015175.3(NBEAL2):c.4306-15C>G
|
rs886058599
|
|
NM_015175.3(NBEAL2):c.440A>G (p.Asp147Gly)
|
rs886058591
|
|
NM_015175.3(NBEAL2):c.441C>T (p.Asp147=)
|
rs2035909011
|
|
NM_015175.3(NBEAL2):c.474-4C>T
|
rs375726193
|
|
NM_015175.3(NBEAL2):c.4840C>A (p.Arg1614Ser)
|
rs200608141
|
|
NM_015175.3(NBEAL2):c.4841G>A (p.Arg1614His)
|
rs186059483
|
|
NM_015175.3(NBEAL2):c.51+11C>T
|
rs886058590
|
|
NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr)
|
rs2037120735
|
|
NM_015175.3(NBEAL2):c.5516G>A (p.Arg1839His)
|
rs758124017
|
|
NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=)
|
rs138278141
|
|
NM_015175.3(NBEAL2):c.5881+11G>A
|
rs201179667
|
|
NM_015175.3(NBEAL2):c.6165C>G (p.Pro2055=)
|
rs201897629
|
|
NM_015175.3(NBEAL2):c.634G>A (p.Gly212Arg)
|
rs886058592
|
|
NM_015175.3(NBEAL2):c.6404A>G (p.Gln2135Arg)
|
rs886058602
|
|
NM_015175.3(NBEAL2):c.6413G>A (p.Arg2138Lys)
|
rs886058603
|
|
NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=)
|
rs554449998
|
|
NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly)
|
rs2037389157
|
|
NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys)
|
rs2036079664
|
|
NM_015175.3(NBEAL2):c.6919+12G>A
|
rs772599355
|
|
NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr)
|
rs886058604
|
|
NM_015175.3(NBEAL2):c.7513G>A (p.Val2505Ile)
|
rs886058605
|
|
NM_015175.3(NBEAL2):c.7564C>G (p.Arg2522Gly)
|
rs772546336
|
|
NM_015175.3(NBEAL2):c.7923G>A (p.Arg2641=)
|
rs2037640069
|
|
NM_015175.3(NBEAL2):c.792C>T (p.Ser264=)
|
rs2036088919
|
|
NM_015175.3(NBEAL2):c.7980G>A (p.Val2660=)
|
rs1433248021
|
|
NM_015175.3(NBEAL2):c.808G>A (p.Gly270Ser)
|
rs2036091159
|
|
NM_015175.3(NBEAL2):c.8164-3C>G
|
rs886058606
|
|
NM_015702.3(MMADHC):c.-136G>C
|
rs1682898571
|
|
NM_015702.3(MMADHC):c.-52-3C>G
|
rs886054922
|
|
NM_015702.3(MMADHC):c.-62G>A
|
rs886054924
|
|
NM_015702.3(MMADHC):c.10-3T>C
|
rs886054921
|
|
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
|
rs1682767724
|
|
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
|
rs1682618008
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_017875.4(SLC25A38):c.*548G>A
|
rs531997173
|
|
NM_017875.4(SLC25A38):c.*718G>A
|
rs2041842608
|
|
NM_017875.4(SLC25A38):c.-15C>A
|
rs1373209338
|
|
NM_017875.4(SLC25A38):c.-219T>C
|
rs886058469
|
|
NM_017875.4(SLC25A38):c.-39G>C
|
rs375182491
|
|
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)
|
rs1293528130
|
|
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=)
|
rs2041775190
|
|
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)
|
rs886058471
|
|
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn)
|
rs146864395
|
|
NM_018062.4(FANCL):c.*128G>A
|
rs781556579
|
|
NM_018062.4(FANCL):c.*165A>C
|
rs866675905
|
|
NM_018062.4(FANCL):c.*165A>G
|
rs866675905
|
|
NM_018062.4(FANCL):c.*281C>G
|
rs951671744
|
|
NM_018062.4(FANCL):c.*434A>G
|
rs1395685917
|
|
NM_018062.4(FANCL):c.*447_*450del
|
rs748896681
|
|
NM_018062.4(FANCL):c.*89C>T
|
rs1684780470
|
|
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
|
rs746200741
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
|
rs1689674094
|
|
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
|
rs551142193
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.795T>C (p.Ile265=)
|
rs1685442755
|
|
NM_018368.4(LMBRD1):c.*220G>T
|
rs1765534415
|
|
NM_018368.4(LMBRD1):c.*77G>T
|
rs886061690
|
|
NM_018368.4(LMBRD1):c.-57T>C
|
rs886061693
|
|
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly)
|
rs773844453
|
|
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
|
rs1402538766
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.981-14G>T
|
rs1324981458
|
|
NM_018389.4(SLC35C1):c.-678A>G
|
rs886048306
|
|
NM_018389.5(SLC35C1):c.*1426G>A
|
rs886048321
|
|
NM_018389.5(SLC35C1):c.*1582C>T
|
rs189120012
|
|
NM_018389.5(SLC35C1):c.*697G>A
|
rs866682376
|
|
NM_018389.5(SLC35C1):c.-234T>G
|
rs886048313
|
|
NM_018389.5(SLC35C1):c.-615G>C
|
rs987392297
|
|
NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=)
|
rs886048315
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala)
|
rs2085865383
|
|
NM_018389.5(SLC35C1):c.738C>T (p.Leu246=)
|
rs369955835
|
|
NM_018947.6(CYCS):c.*1676_*1678dup
|
rs11427893
|
|
NM_018947.6(CYCS):c.*1839C>T
|
rs886062249
|
|
NM_018947.6(CYCS):c.*2563_*2564del
|
rs886062242
|
|
NM_018947.6(CYCS):c.*3282del
|
rs536451231
|
|
NM_018947.6(CYCS):c.*5004_*5005del
|
rs527409336
|
|
NM_019616.4(F7):c.*1057C>T
|
rs141219406
|
|
NM_019616.4(F7):c.*1073A>T
|
rs2036277962
|
|
NM_019616.4(F7):c.*1077del
|
rs886050000
|
|
NM_019616.4(F7):c.*1364G>A
|
rs1019352949
|
|
NM_019616.4(F7):c.*1500_*1503del
|
rs539395699
|
|
NM_019616.4(F7):c.*294A>C
|
rs886049989
|
|
NM_019616.4(F7):c.*425C>T
|
rs886049990
|
|
NM_019616.4(F7):c.*561AT[1]
|
rs886049992
|
|
NM_019616.4(F7):c.*628_*630del
|
rs747160994
|
|
NM_019616.4(F7):c.*664G>A
|
rs150239572
|
|
NM_019616.4(F7):c.*672CA[3]
|
rs886049995
|
|
NM_019616.4(F7):c.*703AC[3]
|
rs3093252
|
|
NM_019616.4(F7):c.*756_*770delinsCCA
|
rs886049997
|
|
NM_019616.4(F7):c.*846CTTCA[1]
|
rs886049998
|
|
NM_019616.4(F7):c.-48C>A
|
rs549591993
|
|
NM_019616.4(F7):c.1221A>G (p.Ala407=)
|
rs763731383
|
|
NM_019616.4(F7):c.499C>T (p.Pro167Ser)
|
rs1479693459
|
|
NM_019616.4(F7):c.616-11C>A
|
rs750680622
|
|
NM_019616.4(F7):c.616-7C>A
|
rs751971986
|
|
NM_020661.4(AICDA):c.*1083T>C
|
rs886049870
|
|
NM_020661.4(AICDA):c.*1106A>G
|
rs886049869
|
|
NM_020661.4(AICDA):c.*1138A>G
|
rs7138990
|
|
NM_020661.4(AICDA):c.*1226A>C
|
rs887527114
|
|
NM_020661.4(AICDA):c.*1262C>T
|
rs886049868
|
|
NM_020661.4(AICDA):c.*1313G>C
|
rs1941208167
|
|
NM_020661.4(AICDA):c.*1380A>G
|
rs1286233476
|
|
NM_020661.4(AICDA):c.*1453A>G
|
rs1188858698
|
|
NM_020661.4(AICDA):c.*1455G>A
|
rs187473552
|
|
NM_020661.4(AICDA):c.*1802T>C
|
rs1941199404
|
|
NM_020661.4(AICDA):c.*288C>T
|
rs886049875
|
|
NM_020661.4(AICDA):c.*38T>G
|
rs115089086
|
|
NM_020661.4(AICDA):c.*556T>G
|
rs3205190
|
|
NM_020661.4(AICDA):c.*804A>T
|
rs886049872
|
|
NM_020661.4(AICDA):c.*837A>G
|
rs886049871
|
|
NM_020661.4(AICDA):c.428-17_428-16dup
|
rs5796316
|
|
NM_020937.4(FANCM):c.*100TTTA[1]
|
rs886050504
|
|
NM_020937.4(FANCM):c.*140_*144del
|
rs886050505
|
|
NM_020937.4(FANCM):c.*254dup
|
rs112491585
|
|
NM_020937.4(FANCM):c.2160+10A>G
|
rs767254996
|
|
NM_021870.3(FGG):c.1237A>G (p.Ile413Val)
|
rs886059154
|
|
NM_021870.3(FGG):c.401G>A (p.Arg134Gln)
|
rs764559342
|
|
NM_021871.4(FGA):c.*133G>A
|
rs182736373
|
|
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr)
|
rs1730710209
|
|
NM_021871.4(FGA):c.614A>G (p.Glu205Gly)
|
rs886059152
|
|
NM_021871.4(FGA):c.666A>T (p.Pro222=)
|
rs886059151
|
|
NM_021922.3(FANCE):c.*225T>C
|
rs1767848319
|
|
NM_021922.3(FANCE):c.*63C>T
|
rs1767839821
|
|
NM_021922.3(FANCE):c.*729A>G
|
rs886061334
|
|
NM_021922.3(FANCE):c.-162G>C
|
rs979441521
|
|
NM_021922.3(FANCE):c.-182G>A
|
rs886061324
|
|
NM_021922.3(FANCE):c.-32A>T
|
rs1767142098
|
|
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro)
|
rs886061330
|
|
NM_021922.3(FANCE):c.1113+6T>C
|
rs764119752
|
|
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
|
rs1767153896
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)
|
rs200535245
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
NM_021922.3(FANCE):c.387A>T (p.Pro129=)
|
rs4713867
|
|
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter)
|
rs45509302
|
|
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)
|
rs886061327
|
|
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)
|
rs139600847
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
NM_022051.2(EGLN1):c.-1519C>A
|
rs1333217413
|
|
NM_022051.2(EGLN1):c.-1662_-1661delAC
|
rs886046126
|
|
NM_022051.2(EGLN1):c.-1809A>G
|
rs748537901
|
|
NM_022051.2(EGLN1):c.-1832G>A
|
rs886046127
|
|
NM_022051.2(EGLN1):c.-1841A>G
|
rs565638198
|
|
NM_022051.2(EGLN1):c.-2621G>C
|
rs886046131
|
|
NM_022051.2(EGLN1):c.-2744T>C
|
rs531866773
|
|
NM_022051.2(EGLN1):c.-423G>A
|
rs1401812988
|
|
NM_022051.2(EGLN1):c.-506C>T
|
rs943301519
|
|
NM_022051.2(EGLN1):c.-516A>C
|
rs886046119
|
|
NM_022051.2(EGLN1):c.-550C>G
|
rs1440287491
|
|
NM_022051.2(EGLN1):c.-593C>G
|
rs1380469993
|
|
NM_022051.2(EGLN1):c.-615C>A
|
rs867092704
|
|
NM_022051.2(EGLN1):c.-655G>A
|
rs886046121
|
|
NM_022051.2(EGLN1):c.-928T>A
|
rs182333595
|
|
NM_022051.3(EGLN1):c.*1410ATTTT[1]
|
rs886046099
|
|
NM_022051.3(EGLN1):c.*1428_*1429del
|
rs886046098
|
|
NM_022051.3(EGLN1):c.*1487C>T
|
rs574739784
|
|
NM_022051.3(EGLN1):c.*1802_*1803dup
|
rs541569859
|
|
NM_022051.3(EGLN1):c.*1825G>A
|
rs1687590538
|
|
NM_022051.3(EGLN1):c.*2023A>G
|
rs1687584190
|
|
NM_022051.3(EGLN1):c.*261_*263del
|
rs886046108
|
|
NM_022051.3(EGLN1):c.*535T>G
|
rs886046106
|
|
NM_022051.3(EGLN1):c.*555_*559del
|
rs886046105
|
|
NM_022051.3(EGLN1):c.*934T>G
|
rs1687618996
|
|
NM_022051.3(EGLN1):c.*972G>A
|
rs867975663
|
|
NM_022051.3(EGLN1):c.-188A>C
|
rs1656652896
|
|
NM_022051.3(EGLN1):c.-377G>A
|
rs564650969
|
|
NM_022051.3(EGLN1):c.-386C>A
|
rs886046115
|
|
NM_022051.3(EGLN1):c.1217-10dup
|
rs371155853
|
|
NM_022051.3(EGLN1):c.253C>G (p.Pro85Ala)
|
rs886046111
|
|
NM_022051.3(EGLN1):c.413T>C (p.Val138Ala)
|
rs1408448213
|
|
NM_022051.3(EGLN1):c.432C>T (p.Pro144=)
|
rs886046110
|
|
NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln)
|
rs886046112
|
|
NM_022051.3(EGLN1):c.597G>C (p.Val199=)
|
rs563998083
|
|
NM_022051.3(EGLN1):c.739T>G (p.Ser247Ala)
|
rs886046109
|
|
NM_022051.3(EGLN1):c.975A>T (p.Thr325=)
|
rs374733352
|
|
NM_022081.5(HPS4):c.-634C>T
|
rs886057325
|
|
NM_022081.6(HPS4):c.*1024_*1028del
|
rs886057313
|
|
NM_022081.6(HPS4):c.*1120C>T
|
rs886057312
|
|
NM_022081.6(HPS4):c.*1191TG[16]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1191TG[17]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1191TG[20]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1207_*1227delinsC
|
rs886057310
|
|
NM_022081.6(HPS4):c.*1207_*1227delinsCGC
|
rs886057310
|
|
NM_022081.6(HPS4):c.*1223_*1238del
|
rs886057303
|
|
NM_022081.6(HPS4):c.*1227_*1236del
|
rs755364858
|
|
NM_022081.6(HPS4):c.*1229CG[5]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[6]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[7]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[8]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229_*1237delinsTGT
|
rs886057304
|
|
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT
|
rs886057304
|
|
NM_022081.6(HPS4):c.*1236_*1237insTAA
|
rs1555885488
|
|
NM_022081.6(HPS4):c.*1752C>G
|
rs886057295
|
|
NM_022081.6(HPS4):c.*333C>T
|
rs2085445155
|
|
NM_022081.6(HPS4):c.*515G>C
|
rs886057314
|
|
NM_022081.6(HPS4):c.-116C>T
|
rs886057321
|
|
NM_022081.6(HPS4):c.-281A>G
|
rs1028325475
|
|
NM_022081.6(HPS4):c.-312C>T
|
rs2091338704
|
|
NM_022081.6(HPS4):c.-317G>A
|
rs2091338920
|
|
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr)
|
rs2091003499
|
|
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu)
|
rs150216540
|
|
NM_022081.6(HPS4):c.177A>C (p.Gly59=)
|
rs886057320
|
|
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile)
|
rs886057319
|
|
NM_022081.6(HPS4):c.706+10G>A
|
rs2088578226
|
|
NM_022081.6(HPS4):c.706+15G>T
|
rs762647750
|
|
NM_022081.6(HPS4):c.727G>A (p.Val243Ile)
|
rs749572804
|
|
NM_022725.4(FANCF):c.*1338dup
|
rs45554234
|
|
NM_022725.4(FANCF):c.*1509G>C
|
rs886048153
|
|
NM_022725.4(FANCF):c.*1525T>G
|
rs886048152
|
|
NM_022725.4(FANCF):c.*1696G>A
|
rs886048149
|
|
NM_022725.4(FANCF):c.*286A>G
|
rs1858607148
|
|
NM_022725.4(FANCF):c.*287C>T
|
rs886048156
|
|
NM_022725.4(FANCF):c.*539T>A
|
rs1858602761
|
|
NM_022725.4(FANCF):c.*624G>C
|
rs768178918
|
|
NM_022725.4(FANCF):c.*650ATTAA[1]
|
rs886048154
|
|
NM_022725.4(FANCF):c.*695dup
|
rs796646840
|
|
NM_022725.4(FANCF):c.*857G>A
|
rs964945469
|
|
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn)
|
rs886048157
|
|
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)
|
rs1858614312
|
|
NM_022725.4(FANCF):c.1064G>A (p.Arg355His)
|
rs758175326
|
|
NM_022725.4(FANCF):c.261_263del (p.His88del)
|
rs886048158
|
|
NM_022725.4(FANCF):c.2T>C (p.Met1Thr)
|
rs745495865
|
|
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln)
|
rs774728053
|
|
NM_024006.6(VKORC1):c.*10C>G
|
rs2057286230
|
|
NM_024006.6(VKORC1):c.*172T>A
|
rs2057284100
|
|
NM_024006.6(VKORC1):c.-45G>A
|
rs759852599
|
|
NM_024006.6(VKORC1):c.117C>T (p.Tyr39=)
|
rs2057315206
|
|
NM_024006.6(VKORC1):c.342C>G (p.Leu114=)
|
rs2057287810
|
|
NM_024006.6(VKORC1):c.447T>C (p.Ser149=)
|
rs2057286672
|
|
NM_024006.6(VKORC1):c.54G>T (p.Thr18=)
|
rs771891906
|
|
NM_024675.4(PALB2):c.-108C>A
|
rs180177140
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)
|
rs371875379
|
|
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg)
|
rs867817029
|
|
NM_024675.4(PALB2):c.1684+11A>G
|
rs201368043
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
NM_024675.4(PALB2):c.2667T>A (p.Thr889=)
|
rs876659224
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
NM_024675.4(PALB2):c.2996+14T>G
|
rs1407045774
|
|
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
|
rs1966403904
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
rs1057520982
|
|
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro)
|
rs886051831
|
|
NM_024747.6(HPS6):c.1127G>A (p.Arg376His)
|
rs1270858817
|
|
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn)
|
rs886046651
|
|
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val)
|
rs201468546
|
|
NM_024747.6(HPS6):c.138G>A (p.Leu46=)
|
rs886046648
|
|
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val)
|
rs765206943
|
|
NM_024747.6(HPS6):c.1692C>A (p.Pro564=)
|
rs147449083
|
|
NM_024747.6(HPS6):c.194C>G (p.Ala65Gly)
|
rs886046649
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_024747.6(HPS6):c.298C>T (p.Leu100=)
|
rs886046650
|
|
NM_024747.6(HPS6):c.732A>G (p.Gly244=)
|
rs756521666
|
|
NM_025215.6(PUS1):c.-151G>A
|
rs1890481878
|
|
NM_025215.6(PUS1):c.-424C>T
|
rs1890465624
|
|
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val)
|
rs200292016
|
|
NM_025215.6(PUS1):c.423C>A (p.Arg141=)
|
rs371752870
|
|
NM_025215.6(PUS1):c.937G>A (p.Val313Met)
|
rs140088613
|
|
NM_030773.4(TUBB1):c.850C>T (p.Leu284Phe)
|
rs2146377410
|
|
NM_032043.3(BRIP1):c.*1048_*1050del
|
rs564290244
|
|
NM_032043.3(BRIP1):c.*1255AG[1]
|
rs886053209
|
|
NM_032043.3(BRIP1):c.*1381G>T
|
rs886053208
|
|
NM_032043.3(BRIP1):c.*1409T>A
|
rs554933640
|
|
NM_032043.3(BRIP1):c.*1801T>G
|
rs1479468180
|
|
NM_032043.3(BRIP1):c.*1930G>C
|
rs2061267341
|
|
NM_032043.3(BRIP1):c.*2672G>A
|
rs924486012
|
|
NM_032043.3(BRIP1):c.*2715C>T
|
rs886053203
|
|
NM_032043.3(BRIP1):c.*2744A>G
|
rs1311178838
|
|
NM_032043.3(BRIP1):c.*2756G>A
|
rs182264505
|
|
NM_032043.3(BRIP1):c.*2811_*2815dup
|
rs768910110
|
|
NM_032043.3(BRIP1):c.*2812_*2815dup
|
rs768910110
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1]
|
rs1555571892
|
|
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA
|
rs886053202
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA
|
rs551338531
|
|
NM_032043.3(BRIP1):c.*2868A>G
|
rs1044791743
|
|
NM_032043.3(BRIP1):c.*288A>G
|
rs886053213
|
|
NM_032043.3(BRIP1):c.*2926T>A
|
rs886053201
|
|
NM_032043.3(BRIP1):c.*3093A>T
|
rs944576811
|
|
NM_032043.3(BRIP1):c.*3145A>G
|
rs886053200
|
|
NM_032043.3(BRIP1):c.*3821A>G
|
rs886053197
|
|
NM_032043.3(BRIP1):c.*3918C>T
|
rs886053196
|
|
NM_032043.3(BRIP1):c.*394CT[1]
|
rs546666211
|
|
NM_032043.3(BRIP1):c.*421C>T
|
rs886053211
|
|
NM_032043.3(BRIP1):c.*612A>G
|
rs2061285626
|
|
NM_032043.3(BRIP1):c.*684C>A
|
rs2061284724
|
|
NM_032043.3(BRIP1):c.-232G>A
|
rs2078998991
|
|
NM_032043.3(BRIP1):c.-38C>T
|
rs371225829
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
NM_032043.3(BRIP1):c.2829C>A (p.Val943=)
|
rs767164240
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu)
|
rs2061316462
|
|
NM_032043.3(BRIP1):c.3251C>G (p.Thr1084Ser)
|
rs876660768
|
|
NM_032043.3(BRIP1):c.54T>C (p.Pro18=)
|
rs886053216
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
NM_032122.5(DTNBP1):c.*151_*152dup
|
rs555440397
|
|
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)
|
rs752074481
|
|
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)
|
rs752074481
|
|
NM_032122.5(DTNBP1):c.489-12_489-8del
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.489-8del
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.489-8dup
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.668-14del
|
rs886061225
|
|
NM_032383.4(HPS3):c.-108C>T
|
rs886058074
|
|
NM_032383.5(HPS3):c.*129_*130insGC
|
rs886058082
|
|
NM_032383.5(HPS3):c.*138A>T
|
rs1049481742
|
|
NM_032383.5(HPS3):c.*207C>T
|
rs1725097839
|
|
NM_032383.5(HPS3):c.*96_*97insATCACA
|
rs374839757
|
|
NM_032383.5(HPS3):c.*97CA[16]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[17]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[20]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[21]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[22]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[23]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[25]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97_*98insTCACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCACACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCACACACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCTCACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.-43C>A
|
rs375227018
|
|
NM_032383.5(HPS3):c.10C>T (p.Leu4=)
|
rs1343390851
|
|
NM_032383.5(HPS3):c.1200G>C (p.Ala400=)
|
rs377368442
|
|
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys)
|
rs143804526
|
|
NM_032383.5(HPS3):c.2224G>A (p.Val742Met)
|
rs886058079
|
|
NM_032383.5(HPS3):c.2658C>T (p.Asp886=)
|
rs141916243
|
|
NM_032383.5(HPS3):c.2887+8G>T
|
rs781312506
|
|
NM_032383.5(HPS3):c.323T>C (p.Met108Thr)
|
rs1722344814
|
|
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser)
|
rs1722360673
|
|
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser)
|
rs886058075
|
|
NM_032383.5(HPS3):c.884+11_884+12insT
|
rs886058076
|
|
NM_032383.5(HPS3):c.884+21_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.884+22_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.884+24_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)
|
rs1722440534
|
|
NM_032444.4(SLX4):c.*298_*301del
|
rs566716185
|
|
NM_032444.4(SLX4):c.*469A>T
|
rs868278470
|
|
NM_032444.4(SLX4):c.*493G>T
|
rs530681898
|
|
NM_032444.4(SLX4):c.*54A>C
|
rs1596514118
|
|
NM_032444.4(SLX4):c.*82C>T
|
rs2040444401
|
|
NM_032444.4(SLX4):c.*944A>G
|
rs1032936956
|
|
NM_032444.4(SLX4):c.-143_-140del
|
rs779611690
|
|
NM_032444.4(SLX4):c.-210G>A
|
rs747849749
|
|
NM_032444.4(SLX4):c.-211dup
|
rs149138178
|
|
NM_032444.4(SLX4):c.-614G>C
|
rs2040876181
|
|
NM_032444.4(SLX4):c.-631G>A
|
rs1430818218
|
|
NM_032444.4(SLX4):c.1110T>C (p.Ala370=)
|
rs886051981
|
|
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro)
|
rs200030312
|
|
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr)
|
rs886051979
|
|
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
|
rs1056085
|
|
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)
|
rs571330689
|
|
NM_032444.4(SLX4):c.2187A>G (p.Val729=)
|
rs2040609293
|
|
NM_032444.4(SLX4):c.2328-11T>C
|
rs1390856264
|
|
NM_032444.4(SLX4):c.2688G>A (p.Val896=)
|
rs758166923
|
|
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu)
|
rs886051978
|
|
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=)
|
rs1278706933
|
|
NM_032444.4(SLX4):c.360T>C (p.Thr120=)
|
rs886051982
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
|
|
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln)
|
rs149362820
|
|
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del)
|
rs760517738
|
|
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)
|
rs368102037
|
|
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)
|
rs377544881
|
|
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
|
rs199592185
|
|
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
|
rs776018346
|
|
NM_032444.4(SLX4):c.5153+6C>A
|
rs754209356
|
|
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)
|
rs1596514559
|
|
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met)
|
rs886051976
|
|
NM_032444.4(SLX4):c.561G>T (p.Gln187His)
|
rs778738306
|
|
NM_032444.4(SLX4):c.738A>G (p.Gln246=)
|
rs905819290
|
|
NM_032444.4(SLX4):c.786A>G (p.Pro262=)
|
rs2040736285
|
|
NM_032609.3(COX4I2):c.83-8_83-7del
|
rs528430338
|
|
NM_032638.5(GATA2):c.*1002G>T
|
rs977325610
|
|
NM_032638.5(GATA2):c.*1144G>A
|
rs886057923
|
|
NM_032638.5(GATA2):c.*1173G>T
|
rs779730117
|
|
NM_032638.5(GATA2):c.*1418G>T
|
rs905132525
|
|
NM_032638.5(GATA2):c.*1522A>G
|
rs2068597449
|
|
NM_032638.5(GATA2):c.*1543T>C
|
rs886057922
|
|
NM_032638.5(GATA2):c.*418G>A
|
rs2068613223
|
|
NM_032638.5(GATA2):c.*457G>A
|
rs2068612595
|
|
NM_032638.5(GATA2):c.*479CTC[1]
|
rs886057925
|
|
NM_032638.5(GATA2):c.*73C>T
|
rs886057928
|
|
NM_032638.5(GATA2):c.*884A>T
|
rs886057924
|
|
NM_032638.5(GATA2):c.-180C>A
|
rs886057934
|
|
NM_032638.5(GATA2):c.-214G>A
|
rs994244963
|
|
NM_032638.5(GATA2):c.-215C>T
|
rs886057936
|
|
NM_032638.5(GATA2):c.-42C>G
|
rs886057933
|
|
NM_032638.5(GATA2):c.-42C>T
|
rs886057933
|
|
NM_032638.5(GATA2):c.-5C>T
|
rs374415484
|
|
NM_032638.5(GATA2):c.101T>G (p.Met34Arg)
|
rs1576749857
|
|
NM_032638.5(GATA2):c.315C>G (p.Leu105=)
|
rs750545562
|
|
NM_032638.5(GATA2):c.398G>T (p.Gly133Val)
|
rs2068696971
|
|
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro)
|
rs1353988929
|
|
NM_032638.5(GATA2):c.800C>T (p.Pro267Leu)
|
rs886057930
|
|
NM_032844.4(MASTL):c.-240G>A
|
rs886046955
|
|
NM_033022.3(RPS24):c.-142A>G
|
rs886047294
|
|
NM_033022.3(RPS24):c.-47T>G
|
rs371852053
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
NM_033022.4(RPS24):c.4-7T>C
|
rs1847840052
|
|
NM_052945.4(TNFRSF13C):c.*107G>C
|
rs2077623255
|
|
NM_052945.4(TNFRSF13C):c.*253C>T
|
rs2077622673
|
|
NM_052945.4(TNFRSF13C):c.-10C>A
|
rs886057591
|
|
NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=)
|
rs544076556
|
|
NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val)
|
rs2077628213
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys)
|
rs2048501654
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
NM_080669.6(SLC46A1):c.*1335C>T
|
rs1390797851
|
|
NM_080669.6(SLC46A1):c.*1383A>G
|
rs560836860
|
|
NM_080669.6(SLC46A1):c.*1627T>A
|
rs886052747
|
|
NM_080669.6(SLC46A1):c.*1981C>T
|
rs41297919
|
|
NM_080669.6(SLC46A1):c.*2401G>A
|
rs555975005
|
|
NM_080669.6(SLC46A1):c.*2486T>C
|
rs537647948
|
|
NM_080669.6(SLC46A1):c.*2513G>C
|
rs576823032
|
|
NM_080669.6(SLC46A1):c.*2661G>C
|
rs886052745
|
|
NM_080669.6(SLC46A1):c.*277A>G
|
rs886052751
|
|
NM_080669.6(SLC46A1):c.*2901C>T
|
rs2068129559
|
|
NM_080669.6(SLC46A1):c.*2945G>A
|
rs1339848912
|
|
NM_080669.6(SLC46A1):c.*3009G>A
|
rs2239910
|
|
NM_080669.6(SLC46A1):c.*3203A>G
|
rs886052743
|
|
NM_080669.6(SLC46A1):c.*3302A>G
|
rs886052742
|
|
NM_080669.6(SLC46A1):c.*3402A>G
|
rs781986662
|
|
NM_080669.6(SLC46A1):c.*3456G>C
|
rs372946020
|
|
NM_080669.6(SLC46A1):c.*3603C>T
|
rs782370729
|
|
NM_080669.6(SLC46A1):c.*3677C>G
|
rs886052741
|
|
NM_080669.6(SLC46A1):c.*3913A>T
|
rs886052739
|
|
NM_080669.6(SLC46A1):c.*4184T>G
|
rs2068108606
|
|
NM_080669.6(SLC46A1):c.*4634_*4635dup
|
rs34879232
|
|
NM_080669.6(SLC46A1):c.*4742A>G
|
rs886052736
|
|
NM_080669.6(SLC46A1):c.*4G>T
|
rs886052753
|
|
NM_080669.6(SLC46A1):c.*90G>A
|
rs782079474
|
|
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser)
|
rs41297071
|
|
NM_080669.6(SLC46A1):c.501C>G (p.Ser167=)
|
rs2068243273
|
|
NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser)
|
rs886052756
|
|
NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln)
|
rs886052755
|
|
NM_080911.3(UNG):c.*1018A>G
|
rs538993598
|
|
NM_080911.3(UNG):c.*129C>T
|
rs2042250000
|
|
NM_080911.3(UNG):c.*159G>A
|
rs886048907
|
|
NM_080911.3(UNG):c.*281C>T
|
rs886048908
|
|
NM_080911.3(UNG):c.*376C>G
|
rs2042251751
|
|
NM_080911.3(UNG):c.*500C>G
|
rs780337127
|
|
NM_080911.3(UNG):c.*537G>A
|
rs886048910
|
|
NM_080911.3(UNG):c.*545A>G
|
rs562354759
|
|
NM_080911.3(UNG):c.*705T>C
|
rs990568930
|
|
NM_080911.3(UNG):c.*719G>A
|
rs886048912
|
|
NM_080911.3(UNG):c.*858T>G
|
rs914567653
|
|
NM_080911.3(UNG):c.*866AT[5]
|
rs56185014
|
|
NM_080911.3(UNG):c.-50G>A
|
rs370117219
|
|
NM_080911.3(UNG):c.-51A>G
|
rs375712849
|
|
NM_080911.3(UNG):c.-51A>T
|
rs375712849
|
|
NM_080911.3(UNG):c.100G>A (p.Ala34Thr)
|
rs886048906
|
|
NM_080911.3(UNG):c.204C>G (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.204C>T (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.435+15T>A
|
rs765672149
|
|
NM_080911.3(UNG):c.544A>G (p.Ile182Val)
|
rs545691651
|
|
NM_080911.3(UNG):c.660C>T (p.Ala220=)
|
rs572632781
|
|
NM_080911.3(UNG):c.664C>G (p.Gln222Glu)
|
rs2042193896
|
|
NM_080911.3(UNG):c.825G>A (p.Thr275=)
|
rs765151419
|
|
NM_138387.4(G6PC3):c.*1CTT[1]
|
rs761219348
|
|
NM_138387.4(G6PC3):c.*234C>G
|
rs763555878
|
|
NM_138387.4(G6PC3):c.*67G>A
|
rs11544393
|
|
NM_138387.4(G6PC3):c.-162G>A
|
rs536609615
|
|
NM_138387.4(G6PC3):c.-191T>G
|
rs886052984
|
|
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val)
|
rs34878178
|
|
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr)
|
rs886052986
|
|
NM_138387.4(G6PC3):c.417-14T>C
|
rs2050055854
|
|
NM_138387.4(G6PC3):c.417-9T>G
|
rs759937203
|
|
NM_138477.4(CDAN1):c.*174G>C
|
rs2061494783
|
|
NM_138477.4(CDAN1):c.*249GTTT[1]
|
rs767935615
|
|
NM_138477.4(CDAN1):c.*539C>T
|
rs1314999197
|
|
NM_138477.4(CDAN1):c.*600A>G
|
rs886051155
|
|
NM_138477.4(CDAN1):c.*641G>T
|
rs2061489811
|
|
NM_138477.4(CDAN1):c.*657A>G
|
rs752891192
|
|
NM_138477.4(CDAN1):c.*680C>G
|
rs965392126
|
|
NM_138477.4(CDAN1):c.*687G>C
|
rs1245688161
|
|
NM_138477.4(CDAN1):c.*731C>A
|
rs2061488733
|
|
NM_138477.4(CDAN1):c.*775AACA[1]
|
rs531320636
|
|
NM_138477.4(CDAN1):c.*788G>T
|
rs886051154
|
|
NM_138477.4(CDAN1):c.*827A>G
|
rs573659922
|
|
NM_138477.4(CDAN1):c.*896T>C
|
rs2061486806
|
|
NM_138477.4(CDAN1):c.*94T>C
|
rs2061495632
|
|
NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val)
|
rs886051158
|
|
NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3])
|
rs778227051
|
|
NM_138477.4(CDAN1):c.1740-10T>A
|
rs886051157
|
|
NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly)
|
rs778169314
|
|
NM_138477.4(CDAN1):c.1915T>C (p.Phe639Leu)
|
rs2061603986
|
|
NM_138477.4(CDAN1):c.201G>T (p.Gln67His)
|
rs2061692835
|
|
NM_138477.4(CDAN1):c.2080C>T (p.Pro694Ser)
|
rs2061599288
|
|
NM_138477.4(CDAN1):c.2174+11C>T
|
rs749464836
|
|
NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro)
|
rs747975571
|
|
NM_138477.4(CDAN1):c.2439G>A (p.Val813=)
|
rs2061577795
|
|
NM_138477.4(CDAN1):c.2464G>A (p.Gly822Ser)
|
rs1193351243
|
|
NM_138477.4(CDAN1):c.255G>A (p.Arg85=)
|
rs886051159
|
|
NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu)
|
rs1442095399
|
|
NM_138477.4(CDAN1):c.2592_2596dup (p.Val866fs)
|
rs1296421769
|
|
NM_138477.4(CDAN1):c.2605G>A (p.Val869Met)
|
rs370895637
|
|
NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg)
|
rs1051388342
|
|
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu)
|
rs146289653
|
|
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=)
|
rs146289653
|
|
NM_138477.4(CDAN1):c.3205-5C>A
|
rs772939236
|
|
NM_138477.4(CDAN1):c.333C>T (p.Ala111=)
|
rs1320661924
|
|
NM_138477.4(CDAN1):c.774-3T>C
|
rs756901380
|
|
NM_139027.6(ADAMTS13):c.-52C>G
|
rs587771364
|
|
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys)
|
rs142214608
|
|
NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=)
|
rs587602874
|
|
NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met)
|
rs201522226
|
|
NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=)
|
rs372953477
|
|
NM_139027.6(ADAMTS13):c.1787-8C>G
|
rs1841567307
|
|
NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val)
|
rs1841574241
|
|
NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=)
|
rs1841587519
|
|
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)
|
rs138699340
|
|
NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr)
|
rs781957737
|
|
NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser)
|
rs1554792055
|
|
NM_139027.6(ADAMTS13):c.2935del (p.Arg979fs)
|
rs886063635
|
|
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val)
|
rs376017677
|
|
NM_139027.6(ADAMTS13):c.3483T>C (p.Ile1161=)
|
rs782235608
|
|
NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=)
|
rs1842731712
|
|
NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=)
|
rs1842757375
|
|
NM_139027.6(ADAMTS13):c.3628A>T (p.Thr1210Ser)
|
rs782798764
|
|
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=)
|
rs782463983
|
|
NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp)
|
rs587701622
|
|
NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser)
|
rs200645384
|
|
NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg)
|
rs1842931730
|
|
NM_139027.6(ADAMTS13):c.816C>G (p.Ser272Arg)
|
rs1344972182
|
|
NM_139027.6(ADAMTS13):c.824+5C>G
|
rs886063633
|
|
NM_139027.6(ADAMTS13):c.824+8C>T
|
rs781862563
|
|
NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp)
|
rs1232529325
|
|
NM_139276.2(STAT3):c.-226C>T
|
rs1567768628
|
|
NM_139276.3(STAT3):c.*1082G>A
|
rs184030721
|
|
NM_139276.3(STAT3):c.*1266G>A
|
rs886052938
|
|
NM_139276.3(STAT3):c.*1270C>T
|
rs886052937
|
|
NM_139276.3(STAT3):c.*1415C>G
|
rs886052936
|
|
NM_139276.3(STAT3):c.*1673C>T
|
rs886052935
|
|
NM_139276.3(STAT3):c.*1675T>C
|
rs886052934
|
|
NM_139276.3(STAT3):c.*1850C>G
|
rs886052933
|
|
NM_139276.3(STAT3):c.*1850C>T
|
rs886052933
|
|
NM_139276.3(STAT3):c.*1891C>T
|
rs1240359704
|
|
NM_139276.3(STAT3):c.*2255G>T
|
rs886052931
|
|
NM_139276.3(STAT3):c.*2340dup
|
rs886052930
|
|
NM_139276.3(STAT3):c.*2343_*2344del
|
rs886052928
|
|
NM_139276.3(STAT3):c.*2343del
|
rs886052929
|
|
NM_139276.3(STAT3):c.*608A>G
|
rs2081203585
|
|
NM_139276.3(STAT3):c.*646T>C
|
rs886052939
|
|
NM_139276.3(STAT3):c.*893dup
|
rs754306251
|
|
NM_139276.3(STAT3):c.*894del
|
rs373212106
|
|
NM_139276.3(STAT3):c.-139G>A
|
rs17883843
|
|
NM_139276.3(STAT3):c.-157A>G
|
rs1170853204
|
|
NM_139276.3(STAT3):c.-69C>T
|
rs994095771
|
|
NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp)
|
rs886052942
|
|
NM_139276.3(STAT3):c.1428C>T (p.Ser476=)
|
rs369714894
|
|
NM_139276.3(STAT3):c.1963A>T (p.Met655Leu)
|
rs2081520804
|
|
NM_139276.3(STAT3):c.2216A>G (p.Asn739Ser)
|
rs886052941
|
|
NM_139276.3(STAT3):c.249A>G (p.Leu83=)
|
rs2082709923
|
|
NM_139276.3(STAT3):c.311T>C (p.Ile104Thr)
|
rs2082662438
|
|
NM_139279.6(MCFD2):c.*1059C>G
|
rs1420248449
|
|
NM_139279.6(MCFD2):c.*1464A>G
|
rs1207325090
|
|
NM_139279.6(MCFD2):c.*1867C>A
|
rs1558458280
|
|
NM_139279.6(MCFD2):c.*2106T>G
|
rs1668088874
|
|
NM_139279.6(MCFD2):c.*2141G>C
|
rs546151221
|
|
NM_139279.6(MCFD2):c.*217T>G
|
rs746370141
|
|
NM_139279.6(MCFD2):c.*2436G>T
|
rs535350829
|
|
NM_139279.6(MCFD2):c.*2565A>G
|
rs886056110
|
|
NM_139279.6(MCFD2):c.*2780_*2781del
|
rs886056109
|
|
NM_139279.6(MCFD2):c.*3072_*3073insGG
|
rs559484016
|
|
NM_139279.6(MCFD2):c.*3099G>A
|
rs886056106
|
|
NM_139279.6(MCFD2):c.*3354A>G
|
rs886056105
|
|
NM_139279.6(MCFD2):c.*422T>C
|
rs1668160546
|
|
NM_139279.6(MCFD2):c.*529G>A
|
rs542831100
|
|
NM_139279.6(MCFD2):c.*632T>C
|
rs1668150921
|
|
NM_139279.6(MCFD2):c.*751G>A
|
rs544942135
|
|
NM_139279.6(MCFD2):c.*79A>G
|
rs1572605422
|
|
NM_139279.6(MCFD2):c.*892G>A
|
rs886056114
|
|
NM_139279.6(MCFD2):c.-34C>A
|
rs886056119
|
|
NM_139279.6(MCFD2):c.-90del
|
rs886056122
|
|
NM_139279.6(MCFD2):c.108C>A (p.Pro36=)
|
rs767456045
|
|
NM_152564.5(VPS13B):c.*1101TGAT[3]
|
rs543048641
|
|
NM_152564.5(VPS13B):c.*1106_*1108dup
|
rs765534822
|
|
NM_152564.5(VPS13B):c.*1211G>A
|
rs1025183545
|
|
NM_152564.5(VPS13B):c.*1431G>A
|
rs866313484
|
|
NM_152564.5(VPS13B):c.*1483C>A
|
rs886062558
|
|
NM_152564.5(VPS13B):c.*1504_*1507dup
|
rs747583708
|
|
NM_152564.5(VPS13B):c.*1570G>A
|
rs186440514
|
|
NM_152564.5(VPS13B):c.*1571A>G
|
rs1817736511
|
|
NM_152564.5(VPS13B):c.*270C>T
|
rs886062550
|
|
NM_152564.5(VPS13B):c.*701A>T
|
rs932121133
|
|
NM_152564.5(VPS13B):c.*733A>T
|
rs886062555
|
|
NM_152564.5(VPS13B):c.*740G>C
|
rs886062556
|
|
NM_152564.5(VPS13B):c.-30+6C>G
|
rs147672364
|
|
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met)
|
rs542986432
|
|
NM_152564.5(VPS13B):c.10061+4G>C
|
rs964791071
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala)
|
rs953219294
|
|
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg)
|
rs886062549
|
|
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys)
|
rs1816421633
|
|
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter)
|
rs758842658
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=)
|
rs1810005490
|
|
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val)
|
rs182397346
|
|
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln)
|
rs772958839
|
|
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg)
|
rs886062534
|
|
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg)
|
rs1813686473
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
NM_152564.5(VPS13B):c.2651-12A>G
|
rs886062538
|
|
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro)
|
rs886062539
|
|
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu)
|
rs753607562
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=)
|
rs140905518
|
|
NM_152564.5(VPS13B):c.3667-5C>G
|
rs886062540
|
|
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)
|
|
|
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala)
|
rs1820051985
|
|
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val)
|
rs886062541
|
|
NM_152564.5(VPS13B):c.4746-13G>A
|
rs561446691
|
|
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu)
|
rs1824576572
|
|
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=)
|
rs985853073
|
|
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys)
|
rs780314338
|
|
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser)
|
rs1829388448
|
|
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn)
|
rs886062542
|
|
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val)
|
rs751559027
|
|
NM_152564.5(VPS13B):c.5908+14A>C
|
rs886062543
|
|
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=)
|
rs761542645
|
|
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg)
|
rs183874686
|
|
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly)
|
rs780093448
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val)
|
rs774362514
|
|
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr)
|
rs886062544
|
|
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val)
|
rs765442907
|
|
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu)
|
rs886062545
|
|
NM_152564.5(VPS13B):c.8621+4C>T
|
rs1563489649
|
|
NM_152564.5(VPS13B):c.8793-7G>A
|
rs886062547
|
|
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val)
|
rs6992059
|
|
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe)
|
rs1814517169
|
|
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=)
|
rs886062548
|
|
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr)
|
rs748030120
|
|
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu)
|
rs1815137390
|
|
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg)
|
rs781004616
|
|
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys)
|
rs1372759268
|
|
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe)
|
rs116746734
|
|
NM_172351.3(CD46):c.*1099A>G
|
rs886045842
|
|
NM_172351.3(CD46):c.*1272C>T
|
rs1660101231
|
|
NM_172351.3(CD46):c.*1418T>C
|
rs1660116649
|
|
NM_172351.3(CD46):c.*1659A>G
|
rs886045844
|
|
NM_172351.3(CD46):c.*1865G>C
|
rs1660164008
|
|
NM_172351.3(CD46):c.*31A>G
|
rs886045839
|
|
NM_172351.3(CD46):c.*467T>C
|
rs953478028
|
|
NM_172351.3(CD46):c.*518A>G
|
rs867789788
|
|
NM_172351.3(CD46):c.1082+13A>T
|
rs1175018634
|
|
NM_172351.3(CD46):c.1090C>T (p.Leu364=)
|
rs1483201583
|
|
NM_172351.3(CD46):c.857-124T>A
|
rs886045837
|
|
NM_172351.3(CD46):c.949C>G (p.Pro317Ala)
|
rs886045838
|
|
NM_173841.2(IL1RN):c.*1145A>G
|
rs886054779
|
|
NM_173842.3(IL1RN):c.*1049A>G
|
rs886054778
|
|
NM_173842.3(IL1RN):c.*1070T>G
|
rs1687262003
|
|
NM_173842.3(IL1RN):c.*290T>A
|
rs1687235105
|
|
NM_173842.3(IL1RN):c.*350C>G
|
rs1687237466
|
|
NM_173842.3(IL1RN):c.*369T>A
|
rs886054775
|
|
NM_173842.3(IL1RN):c.*490del
|
rs565976240
|
|
NM_173842.3(IL1RN):c.*691del
|
rs4252029
|
|
NM_173842.3(IL1RN):c.166G>A (p.Val56Ile)
|
rs557348234
|
|
NM_173842.3(IL1RN):c.205+8G>A
|
rs762763281
|
|
NM_173842.3(IL1RN):c.318+12C>G
|
rs561872655
|
|
NM_174936.3(PCSK9):c.-353G>T
|
rs886046425
|
|
NM_174936.4(PCSK9):c.*1154C>A
|
rs886046451
|
|
NM_174936.4(PCSK9):c.*1170_*1173dup
|
rs377553033
|
|
NM_174936.4(PCSK9):c.*1229G>T
|
rs886046453
|
|
NM_174936.4(PCSK9):c.*152G>T
|
rs886046438
|
|
NM_174936.4(PCSK9):c.*274C>A
|
rs886046439
|
|
NM_174936.4(PCSK9):c.*404G>A
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*404G>C
|
rs886046440
|
|
NM_174936.4(PCSK9):c.*426C>A
|
rs886046441
|
|
NM_174936.4(PCSK9):c.*464C>A
|
rs886046442
|
|
NM_174936.4(PCSK9):c.*470G>A
|
rs886046443
|
|
NM_174936.4(PCSK9):c.*488C>A
|
rs886046444
|
|
NM_174936.4(PCSK9):c.*509C>A
|
rs886046445
|
|
NM_174936.4(PCSK9):c.*58A>G
|
rs886046437
|
|
NM_174936.4(PCSK9):c.*785C>A
|
rs886046448
|
|
NM_174936.4(PCSK9):c.*78C>T
|
rs757944328
|
|
NM_174936.4(PCSK9):c.*846G>T
|
rs886046449
|
|
NM_174936.4(PCSK9):c.-180T>G
|
rs886046431
|
|
NM_174936.4(PCSK9):c.-185A>G
|
rs886046430
|
|
NM_174936.4(PCSK9):c.-200C>A
|
rs886046429
|
|
NM_174936.4(PCSK9):c.-221T>G
|
rs886046428
|
|
NM_174936.4(PCSK9):c.-237T>G
|
rs886046427
|
|
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu)
|
rs886046432
|
|
NM_181507.1(HPS5):c.-251C>T
|
rs4150530
|
|
NM_181507.2(HPS5):c.*1003_*1004del
|
rs886048070
|
|
NM_181507.2(HPS5):c.*1201A>G
|
rs1858510966
|
|
NM_181507.2(HPS5):c.*655A>C
|
rs886048073
|
|
NM_181507.2(HPS5):c.*956T>G
|
rs886048072
|
|
NM_181507.2(HPS5):c.*960T>A
|
rs886048071
|
|
NM_181507.2(HPS5):c.-217G>A
|
rs761585857
|
|
NM_181507.2(HPS5):c.1032C>T (p.His344=)
|
rs1385130088
|
|
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly)
|
rs761598432
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_181507.2(HPS5):c.1479A>G (p.Pro493=)
|
rs886048081
|
|
NM_181507.2(HPS5):c.1510+3G>A
|
rs886048080
|
|
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln)
|
rs770838422
|
|
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg)
|
rs774361456
|
|
NM_181507.2(HPS5):c.1785-9C>A
|
rs886048079
|
|
NM_181507.2(HPS5):c.2058A>G (p.Glu686=)
|
rs1860442520
|
|
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly)
|
rs886048078
|
|
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del)
|
rs886048077
|
|
NM_181507.2(HPS5):c.260A>T (p.Asp87Val)
|
rs886048083
|
|
NM_181507.2(HPS5):c.2837+15del
|
rs886048076
|
|
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
|
rs369851648
|
|
NM_183235.3(RAB27A):c.*1110A>G
|
rs560464809
|
|
NM_183235.3(RAB27A):c.*1172T>C
|
rs148704535
|
|
NM_183235.3(RAB27A):c.*121A>G
|
rs886051316
|
|
NM_183235.3(RAB27A):c.*131C>T
|
rs993461205
|
|
NM_183235.3(RAB27A):c.*1546T>C
|
rs1894521152
|
|
NM_183235.3(RAB27A):c.*162G>C
|
rs886051315
|
|
NM_183235.3(RAB27A):c.*1678T>A
|
rs540548388
|
|
NM_183235.3(RAB27A):c.*1863C>G
|
rs566144766
|
|
NM_183235.3(RAB27A):c.*1904A>T
|
rs28620827
|
|
NM_183235.3(RAB27A):c.*1919A>T
|
rs867969605
|
|
NM_183235.3(RAB27A):c.*28A>G
|
rs1894595727
|
|
NM_183235.3(RAB27A):c.*388G>C
|
rs886051314
|
|
NM_183235.3(RAB27A):c.*415C>T
|
rs1894577892
|
|
NM_183235.3(RAB27A):c.*457A>G
|
rs112397072
|
|
NM_183235.3(RAB27A):c.*561A>T
|
rs886051312
|
|
NM_183235.3(RAB27A):c.*595G>T
|
rs538867721
|
|
NM_183235.3(RAB27A):c.*723C>T
|
rs886051311
|
|
NM_183235.3(RAB27A):c.*854A>G
|
rs1894556488
|
|
NM_183235.3(RAB27A):c.*858G>A
|
rs886051309
|
|
NM_183235.3(RAB27A):c.*9G>A
|
rs768429078
|
|
NM_183235.3(RAB27A):c.-142-110G>A
|
rs1275639637
|
|
NM_183235.3(RAB27A):c.-142-46A>G
|
rs8031271
|
|
NM_183235.3(RAB27A):c.-23+13A>G
|
rs1897659170
|
|
NM_198253.3(TERT):c.*308A>G
|
rs1747469600
|
|
NM_198253.3(TERT):c.1269C>T (p.Ala423=)
|
rs190411812
|
|
NM_198253.3(TERT):c.1401C>T (p.Ala467=)
|
rs1751126189
|
|
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)
|
rs1749859084
|
|
NM_198253.3(TERT):c.2523C>G (p.Leu841=)
|
rs1554039733
|
|
NM_198253.3(TERT):c.2626C>A (p.His876Asn)
|
rs1483412488
|
|
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu)
|
rs886059831
|
|
NM_198253.3(TERT):c.483G>C (p.Leu161=)
|
rs755155708
|
|
NM_198253.3(TERT):c.663G>T (p.Ala221=)
|
rs35837567
|
|
NM_198253.3(TERT):c.696G>T (p.Leu232=)
|
rs1033402019
|
|
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
|
rs1751207450
|
|
NM_198253.3(TERT):c.875C>G (p.Thr292Arg)
|
rs1751193051
|
|
NM_198253.3(TERT):c.908A>T (p.His303Leu)
|
rs1751187792
|
|
NM_203447.4(DOCK8):c.*1031G>A
|
rs149002313
|
|
NM_203447.4(DOCK8):c.*195G>C
|
rs184727169
|
|
NM_203447.4(DOCK8):c.*204C>A
|
rs569685446
|
|
NM_203447.4(DOCK8):c.*366C>T
|
rs886063982
|
|
NM_203447.4(DOCK8):c.*754T>C
|
rs2057925428
|
|
NM_203447.4(DOCK8):c.*88C>G
|
rs2057905960
|
|
NM_203447.4(DOCK8):c.*990T>C
|
rs1057515587
|
|
NM_203447.4(DOCK8):c.-105G>T
|
rs886063777
|
|
NM_203447.4(DOCK8):c.1044+13G>T
|
rs754374567
|
|
NM_203447.4(DOCK8):c.1286G>A (p.Gly429Glu)
|
rs776197556
|
|
NM_203447.4(DOCK8):c.1391C>A (p.Ser464Tyr)
|
rs531279290
|
|
NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe)
|
rs531279290
|
|
NM_203447.4(DOCK8):c.1619C>G (p.Pro540Arg)
|
rs377334031
|
|
NM_203447.4(DOCK8):c.1782T>C (p.Ala594=)
|
rs748721463
|
|
NM_203447.4(DOCK8):c.1970A>G (p.Lys657Arg)
|
rs2053285384
|
|
NM_203447.4(DOCK8):c.2138A>G (p.Lys713Arg)
|
rs2053510818
|
|
NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser)
|
rs886063849
|
|
NM_203447.4(DOCK8):c.2428G>A (p.Ala810Thr)
|
rs752978895
|
|
NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr)
|
rs141451302
|
|
NM_203447.4(DOCK8):c.2527G>A (p.Gly843Arg)
|
rs886063934
|
|
NM_203447.4(DOCK8):c.2558A>G (p.His853Arg)
|
rs2053670978
|
|
NM_203447.4(DOCK8):c.2605+14G>C
|
rs886063935
|
|
NM_203447.4(DOCK8):c.2631T>G (p.Pro877=)
|
rs2053764476
|
|
NM_203447.4(DOCK8):c.3195G>A (p.Arg1065=)
|
rs781062154
|
|
NM_203447.4(DOCK8):c.3234+15dup
|
rs375864618
|
|
NM_203447.4(DOCK8):c.3531-10G>C
|
rs760907119
|
|
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu)
|
rs566738926
|
|
NM_203447.4(DOCK8):c.3790G>T (p.Ala1264Ser)
|
rs886063955
|
|
NM_203447.4(DOCK8):c.4283A>G (p.Asn1428Ser)
|
rs150057289
|
|
NM_203447.4(DOCK8):c.536C>T (p.Pro179Leu)
|
rs772181121
|
|
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)
|
rs775544616
|
|
NM_203447.4(DOCK8):c.5585A>G (p.Tyr1862Cys)
|
rs752479766
|
|
NM_203447.4(DOCK8):c.5825T>C (p.Leu1942Ser)
|
rs1245745138
|
|
NM_203447.4(DOCK8):c.5881G>C (p.Val1961Leu)
|
rs2057374290
|
|
NM_203447.4(DOCK8):c.605G>T (p.Arg202Leu)
|
rs374288188
|
|
NM_203447.4(DOCK8):c.6068+11A>C
|
rs886063964
|
|
NM_203447.4(DOCK8):c.6098G>T (p.Arg2033Leu)
|
rs558033558
|
|
NM_203447.4(DOCK8):c.6186G>A (p.Glu2062=)
|
rs2057877910
|
|
NM_203447.4(DOCK8):c.698A>T (p.Asn233Ile)
|
rs576266303
|
|
NM_203447.4(DOCK8):c.701G>A (p.Arg234Lys)
|
rs2050147330
|
|
NM_203447.4(DOCK8):c.72A>G (p.Ile24Met)
|
rs531628086
|
|
NM_203447.4(DOCK8):c.760C>T (p.Arg254Cys)
|
rs1227911560
|
|
NM_203447.4(DOCK8):c.841A>G (p.Ile281Val)
|
rs1412000721
|
|
NM_203447.4(DOCK8):c.955C>T (p.His319Tyr)
|
rs2050845211
|
|
NM_206965.2(FTCD):c.1540-17_1540-16del
|
rs747091513
|
|
NM_206965.2(FTCD):c.766_767del (p.Glu256fs)
|
rs1568979227
|
|
NM_206965.2(FTCD):c.997del (p.Arg333fs)
|
rs1568974130
|
|