NM_020436.5(SALL4):c.540T>C (p.Asn180=)
|
rs6013281
|
0.99661
|
NM_002334.4(LRP4):c.1623T>C (p.Asp541=)
|
rs10769215
|
0.99630
|
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)
|
rs4614723
|
0.98884
|
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=)
|
rs2419565
|
0.98861
|
NM_003334.4(UBA1):c.811+9C>G
|
rs4239964
|
0.98795
|
NM_002334.4(LRP4):c.1638A>G (p.Lys546=)
|
rs10838631
|
0.98127
|
NM_005236.3(ERCC4):c.974-7G>A
|
rs254942
|
0.97995
|
NM_001429.4(EP300):c.2053+8G>T
|
rs6002267
|
0.96326
|
NM_001113378.2(FANCI):c.2547= (p.Lys849=)
|
rs7183618
|
0.95848
|
NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_013352.4(DSE):c.1926T>C (p.Asn642=)
|
rs560644
|
0.95438
|
NM_017617.5(NOTCH1):c.1669+9T>C
|
rs3125006
|
0.88208
|
NM_001374353.1(GLI2):c.801G>A (p.Ser267=)
|
rs2592595
|
0.82634
|
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
NM_153717.3(EVC):c.2305-8T>C
|
rs1031919
|
0.72106
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
NM_153717.3(EVC):c.2894+18A>G
|
rs2279250
|
0.71871
|
NM_000135.4(FANCA):c.710-12A>G
|
rs1800286
|
0.71452
|
NM_018062.4(FANCL):c.981T>C (p.Ser327=)
|
rs848291
|
0.69782
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=)
|
rs8024370
|
0.67566
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)
|
rs12711538
|
0.66550
|
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=)
|
rs3810812
|
0.63612
|
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=)
|
rs10167980
|
0.61468
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)
|
rs3738880
|
0.61025
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60798
|
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
NM_001429.4(EP300):c.3183T>A (p.Thr1061=)
|
rs20552
|
0.59984
|
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)
|
rs2229974
|
0.58641
|
NM_017617.5(NOTCH1):c.1441+7C>T
|
rs9411208
|
0.57467
|
NM_001018113.3(FANCB):c.1327-10T>C
|
rs2905223
|
0.53797
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
NM_032634.4(PIGO):c.1119+7A>G
|
rs568300
|
0.52243
|
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_000135.4(FANCA):c.1826+15T>C
|
rs1800337
|
0.51138
|
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)
|
rs6485702
|
0.50674
|
NM_002968.3(SALL1):c.2574C>T (p.Leu858=)
|
rs1965024
|
0.50381
|
NM_001999.4(FBN2):c.533-2432T>C
|
rs17677603
|
0.50039
|
NM_017617.5(NOTCH1):c.2588-4G>A
|
rs3125001
|
0.48926
|
NM_017617.5(NOTCH1):c.1555+10A>G
|
rs11145767
|
0.47945
|
NM_017617.5(NOTCH1):c.1670-9A>G
|
rs3124603
|
0.47096
|
NM_001113378.2(FANCI):c.1698+15C>T
|
rs9806604
|
0.46880
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
NM_000751.3(CHRND):c.12A>G (p.Pro4=)
|
rs2245601
|
0.45730
|
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala)
|
rs730469
|
0.45556
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)
|
rs10521
|
0.43502
|
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)
|
rs2229971
|
0.42989
|
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)
|
rs2306029
|
0.42236
|
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)
|
rs1138465
|
0.41848
|
NM_000135.4(FANCA):c.1226-20A>G
|
rs1800330
|
0.41702
|
NM_000135.4(FANCA):c.3240-42G>A
|
rs1800345
|
0.40844
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_000135.4(FANCA):c.2151+8T>C
|
rs1800340
|
0.40536
|
NM_001113525.2(ZNF276):c.*1323G>A
|
rs1061646
|
0.40513
|
NM_001113378.2(FANCI):c.3006+15A>C
|
rs2159081
|
0.37877
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_001113378.2(FANCI):c.545+19C>T
|
rs1981623
|
0.37220
|
NM_001278689.2(EOGT):c.1084-19C>T
|
rs4855541
|
0.37167
|
NM_006147.4(IRF6):c.459G>T (p.Ser153=)
|
rs2013162
|
0.35925
|
NM_004629.2(FANCG):c.1636+7A>G
|
rs587118
|
0.35683
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_006147.4(IRF6):c.175-5C>G
|
rs7552506
|
0.32118
|
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val)
|
rs17803620
|
0.31885
|
NM_020436.5(SALL4):c.1860A>G (p.Thr620=)
|
rs6021437
|
0.31314
|
NM_001278689.2(EOGT):c.465A>G (p.Arg155=)
|
rs6781612
|
0.31041
|
NM_020436.5(SALL4):c.1056G>A (p.Ala352=)
|
rs13038893
|
0.29998
|
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser)
|
rs2283432
|
0.29667
|
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)
|
rs6126344
|
0.29053
|
NM_147127.5(EVC2):c.3507C>T (p.His1169=)
|
rs12511039
|
0.28547
|
NM_173660.5(DOK7):c.332-18T>C
|
rs2699425
|
0.28202
|
NM_147127.5(EVC2):c.1437A>G (p.Glu479=)
|
rs13131655
|
0.27893
|
NM_014918.5(CHSY1):c.1905G>C (p.Val635=)
|
rs28364839
|
0.27694
|
NM_001278689.2(EOGT):c.210+5G>A
|
rs56761230
|
0.26744
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_001429.4(EP300):c.4618-18C>T
|
rs2076578
|
0.25729
|
NM_001018115.3(FANCD2):c.3849+13A>G
|
rs9811771
|
0.25616
|
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=)
|
rs2272125
|
0.24889
|
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)
|
rs1799801
|
0.24619
|
NM_001429.4(EP300):c.4452+20C>T
|
rs6002271
|
0.24366
|
NM_014918.5(CHSY1):c.303G>C (p.Arg101=)
|
rs7176149
|
0.24315
|
NM_018486.3(HDAC8):c.159G>A (p.Gln53=)
|
rs11093377
|
0.23437
|
NM_013352.4(DSE):c.74C>T (p.Thr25Ile)
|
rs10485183
|
0.23388
|
NM_014918.5(CHSY1):c.57C>T (p.Gly19=)
|
rs7175303
|
0.23372
|
NM_001018115.3(FANCD2):c.784-19C>T
|
rs9879080
|
0.23357
|
NM_005236.3(ERCC4):c.207+11G>A
|
rs762521
|
0.22979
|
NM_012243.3(SLC35A3):c.357A>G (p.Leu119=)
|
rs534252
|
0.22875
|
NM_001429.4(EP300):c.2989A>G (p.Ile997Val)
|
rs20551
|
0.22427
|
NM_032444.4(SLX4):c.753G>A (p.Ala251=)
|
rs8061528
|
0.21914
|
NM_001278689.2(EOGT):c.1084-14C>G
|
rs4855540
|
0.21801
|
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)
|
rs4689278
|
0.21710
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu)
|
rs714181
|
0.20566
|
NM_001018115.3(FANCD2):c.695+16G>C
|
rs17032283
|
0.20237
|
NM_001018115.3(FANCD2):c.439-16A>G
|
rs17032278
|
0.20185
|
NM_002968.3(SALL1):c.3456C>T (p.His1152=)
|
rs11645288
|
0.19907
|
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)
|
rs34046352
|
0.19892
|
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu)
|
rs1367580
|
0.19378
|
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)
|
rs3864017
|
0.19295
|
NM_032634.4(PIGO):c.2004G>A (p.Leu668=)
|
rs10814196
|
0.19210
|
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)
|
rs6850908
|
0.18472
|
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg)
|
rs6811423
|
0.18249
|
NM_173660.5(DOK7):c.1113A>C (p.Ser371=)
|
rs6811856
|
0.18181
|
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
|
rs6820907
|
0.17921
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe)
|
rs10138997
|
0.16789
|
NM_005592.4(MUSK):c.402G>A (p.Glu134=)
|
rs10980531
|
0.16445
|
NM_004380.3(CREBBP):c.3837-8C>T
|
rs3025684
|
0.15427
|
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)
|
rs9462088
|
0.14730
|
NM_021922.3(FANCE):c.1316+19G>A
|
rs6457823
|
0.14669
|
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=)
|
rs28621009
|
0.14431
|
NM_001999.4(FBN2):c.111G>A (p.Pro37=)
|
rs55715053
|
0.14249
|
NM_001999.4(FBN2):c.6511+15A>G
|
rs56131649
|
0.14023
|
NM_003334.4(UBA1):c.1340G>A (p.Arg447His)
|
rs2070169
|
0.13373
|
NM_001039523.2(CHRNA1):c.-478A>G
|
rs16862847
|
0.13301
|
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=)
|
rs10070365
|
0.13267
|
NM_005592.4(MUSK):c.537C>T (p.Asn179=)
|
rs41279051
|
0.13243
|
NM_173660.5(DOK7):c.101-11G>A
|
rs2344209
|
0.13238
|
NM_006265.3(RAD21):c.1440T>C (p.Ala480=)
|
rs1050838
|
0.13137
|
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=)
|
rs61748200
|
0.13068
|
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=)
|
rs2290883
|
0.12958
|
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val)
|
rs2306033
|
0.12951
|
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)
|
rs1800358
|
0.12784
|
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)
|
rs2229975
|
0.12249
|
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly)
|
rs35176182
|
0.12204
|
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)
|
rs3822471
|
0.12117
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)
|
rs1040461
|
0.11850
|
NM_006265.3(RAD21):c.688+8G>A
|
rs2921787
|
0.11506
|
NM_017617.5(NOTCH1):c.2740+12C>T
|
rs36119806
|
0.11457
|
NM_005055.5(RAPSN):c.193-15C>T
|
rs45547231
|
0.11254
|
NM_147127.5(EVC2):c.2061T>C (p.Arg687=)
|
rs73198153
|
0.11242
|
NM_005445.4(SMC3):c.970-8G>A
|
rs11195199
|
0.11151
|
NM_005445.4(SMC3):c.1092-18T>C
|
rs11195200
|
0.11131
|
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)
|
rs11649210
|
0.11105
|
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val)
|
rs32209
|
0.11103
|
NM_147127.5(EVC2):c.519+15G>A
|
rs17688121
|
0.11080
|
NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
|
rs45603036
|
0.10742
|
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln)
|
rs62621399
|
0.10677
|
NM_001999.4(FBN2):c.183C>G (p.Pro61=)
|
rs73348287
|
0.10581
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser)
|
rs3743193
|
0.09931
|
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile)
|
rs2274419
|
0.09566
|
NM_001999.4(FBN2):c.5823T>C (p.His1941=)
|
rs11955288
|
0.09446
|
NM_020436.5(SALL4):c.2640G>C (p.Ser880=)
|
rs17802735
|
0.09099
|
NM_000079.4(CHRNA1):c.960C>T (p.His320=)
|
rs2229957
|
0.08849
|
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
|
rs34312154
|
0.08810
|
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala)
|
rs3736772
|
0.08766
|
NM_003334.4(UBA1):c.2220G>A (p.Pro740=)
|
rs2230147
|
0.08755
|
NM_003334.4(UBA1):c.1742-11G>C
|
rs5953010
|
0.08744
|
NM_032444.4(SLX4):c.1366+11T>C
|
rs76350200
|
0.08654
|
NM_004380.3(CREBBP):c.939T>C (p.Asp313=)
|
rs3025702
|
0.08570
|
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu)
|
rs1206038
|
0.08528
|
NM_147127.5(EVC2):c.2235A>G (p.Glu745=)
|
rs60121553
|
0.08440
|
NM_001271938.2(MEGF8):c.1934-7T>C
|
rs1206044
|
0.08176
|
NM_004380.3(CREBBP):c.1676+18A>T
|
rs130018
|
0.08039
|
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu)
|
rs6091375
|
0.08032
|
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val)
|
rs78211950
|
0.08024
|
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr)
|
rs59939128
|
0.07918
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
NM_001999.4(FBN2):c.4718-13T>C
|
rs10044959
|
0.07765
|
NM_147127.5(EVC2):c.1711-20T>G
|
rs58869180
|
0.07408
|
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser)
|
rs77985244
|
0.07388
|
NM_000751.3(CHRND):c.1047+9T>C
|
rs3762528
|
0.07349
|
NM_020436.5(SALL4):c.2037C>T (p.Thr679=)
|
rs13043248
|
0.07305
|
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=)
|
rs11857960
|
0.07285
|
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu)
|
rs35875311
|
0.07245
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys)
|
rs79842542
|
0.07023
|
NM_001429.4(EP300):c.4026-17C>A
|
rs2294976
|
0.07014
|
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu)
|
rs2291628
|
0.07011
|
NM_001999.4(FBN2):c.7013-5T>C
|
rs28763927
|
0.06995
|
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)
|
rs1800331
|
0.06866
|
NM_147127.5(EVC2):c.2046+5A>G
|
rs6850875
|
0.06860
|
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)
|
rs13336129
|
0.06797
|
NM_000135.4(FANCA):c.17T>A (p.Val6Asp)
|
rs1800282
|
0.06490
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys)
|
rs74319927
|
0.06397
|
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)
|
rs2020955
|
0.06391
|
NM_032444.4(SLX4):c.1152A>G (p.Pro384=)
|
rs112511042
|
0.06386
|
NM_032444.4(SLX4):c.1156A>G (p.Met386Val)
|
rs113490934
|
0.06384
|
NM_017617.5(NOTCH1):c.5639-12C>T
|
rs11574908
|
0.06332
|
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser)
|
rs16844464
|
0.06297
|
NM_005445.4(SMC3):c.351-9T>C
|
rs78663177
|
0.06159
|
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=)
|
rs75323904
|
0.06157
|
NM_000135.4(FANCA):c.894-8A>G
|
rs11648881
|
0.06110
|
NM_153717.3(EVC):c.341C>T (p.Ala114Val)
|
rs16837598
|
0.05943
|
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)
|
rs17232910
|
0.05919
|
NM_000135.4(FANCA):c.2779-7T>C
|
rs17233253
|
0.05872
|
NM_000135.4(FANCA):c.2901C>T (p.Ser967=)
|
rs17226980
|
0.05869
|
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
NM_000135.4(FANCA):c.3067-4T>C
|
rs17227064
|
0.05860
|
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)
|
rs11646374
|
0.05837
|
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=)
|
rs2005180
|
0.05576
|
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser)
|
rs7926667
|
0.05542
|
NM_002334.4(LRP4):c.1695G>A (p.Glu565=)
|
rs61741501
|
0.05533
|
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)
|
rs41309679
|
0.05446
|
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)
|
rs1800067
|
0.05364
|
NM_013352.4(DSE):c.1142T>C (p.Val381Ala)
|
rs41313440
|
0.05356
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
NM_002334.4(LRP4):c.813G>A (p.Thr271=)
|
rs879721
|
0.05245
|
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)
|
rs112554914
|
0.05240
|
NM_018486.3(HDAC8):c.438-15C>T
|
rs72630048
|
0.05226
|
NM_002968.3(SALL1):c.2343G>C (p.Leu781=)
|
rs60270998
|
0.05087
|
NM_001999.4(FBN2):c.5675-9del
|
rs112666443
|
0.05000
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
NM_032444.4(SLX4):c.555C>T (p.Asp185=)
|
rs74640850
|
0.04956
|
NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp)
|
rs72818370
|
0.04955
|
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val)
|
rs78637028
|
0.04932
|
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val)
|
rs3827530
|
0.04930
|
NM_032444.4(SLX4):c.678C>T (p.His226=)
|
rs28516461
|
0.04916
|
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)
|
rs146811565
|
0.04735
|
NM_005592.4(MUSK):c.207-20T>C
|
rs71501643
|
0.04718
|
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe)
|
rs3810813
|
0.04718
|
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)
|
rs62020347
|
0.04602
|
NM_013352.4(DSE):c.1926= (p.Asn642=)
|
rs560644
|
0.04562
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_001999.4(FBN2):c.6292+12C>A
|
rs10042349
|
0.04495
|
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=)
|
rs61995685
|
0.04463
|
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=)
|
rs149155949
|
0.04455
|
NM_002334.4(LRP4):c.129C>G (p.Thr43=)
|
rs61742974
|
0.04439
|
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)
|
rs76275444
|
0.04436
|
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr)
|
rs62621400
|
0.04196
|
NM_001113378.2(FANCI):c.2547A>G (p.Lys849=)
|
rs7183618
|
0.04152
|
NM_002968.3(SALL1):c.2310C>T (p.Ile770=)
|
rs61740811
|
0.04143
|
NM_013352.4(DSE):c.101C>T (p.Pro34Leu)
|
rs35548455
|
0.04141
|
NM_001429.4(EP300):c.2380-15T>C
|
rs17002316
|
0.04125
|
NM_001429.4(EP300):c.95-16T>C
|
rs5758235
|
0.04095
|
NM_001429.4(EP300):c.1168+18G>A
|
rs3818120
|
0.04073
|
NM_001429.4(EP300):c.3348G>A (p.Gln1116=)
|
rs20554
|
0.04022
|
NM_003334.4(UBA1):c.1742-18G>A
|
rs5953009
|
0.03846
|
NM_006147.4(IRF6):c.-75-4A>G
|
rs2235377
|
0.03786
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
NM_006147.4(IRF6):c.820G>A (p.Val274Ile)
|
rs2235371
|
0.03768
|
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=)
|
rs293756
|
0.03533
|
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=)
|
rs1669445
|
0.03530
|
NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile)
|
rs74102304
|
0.03461
|
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=)
|
rs76488917
|
0.03405
|
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=)
|
rs35473255
|
0.03322
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_000135.4(FANCA):c.1941G>A (p.Glu647=)
|
rs17232917
|
0.03300
|
NM_001113378.2(FANCI):c.1294-8C>T
|
rs16942931
|
0.03299
|
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=)
|
rs116630802
|
0.03297
|
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=)
|
rs16942969
|
0.03295
|
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)
|
rs4986939
|
0.03269
|
NM_153717.3(EVC):c.1096C>T (p.Leu366=)
|
rs6854138
|
0.03243
|
NM_000751.3(CHRND):c.120G>A (p.Lys40=)
|
rs55921262
|
0.03225
|
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)
|
rs35594075
|
0.03203
|
NM_002334.4(LRP4):c.1501A>C (p.Asn501His)
|
rs72897663
|
0.03190
|
NM_013352.4(DSE):c.53G>T (p.Cys18Phe)
|
rs76186865
|
0.03160
|
NM_020937.4(FANCM):c.2670T>C (p.Phe890=)
|
rs8017226
|
0.03114
|
NM_032043.3(BRIP1):c.94-18T>G
|
rs2138005
|
0.03086
|
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu)
|
rs60809236
|
0.03040
|
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=)
|
rs8018014
|
0.03012
|
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=)
|
rs6785756
|
0.03005
|
NM_000135.4(FANCA):c.1360-7C>T
|
rs17232616
|
0.03003
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=)
|
rs115052795
|
0.02871
|
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)
|
rs11574911
|
0.02871
|
NM_000135.4(FANCA):c.3348+18A>G
|
rs1800347
|
0.02828
|
NM_005105.5(RBM8A):c.479+15G>A
|
rs114923929
|
0.02823
|
NM_013352.4(DSE):c.844A>G (p.Ile282Val)
|
rs34994230
|
0.02817
|
NM_002334.4(LRP4):c.4837+10C>T
|
rs74806847
|
0.02807
|
NM_153717.3(EVC):c.939+11G>T
|
rs55955937
|
0.02788
|
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)
|
rs9809716
|
0.02768
|
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=)
|
rs76457230
|
0.02740
|
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=)
|
rs2298314
|
0.02715
|
NM_147127.5(EVC2):c.1059C>T (p.Gly353=)
|
rs77793386
|
0.02666
|
NM_001018115.3(FANCD2):c.64+12G>C
|
rs9833228
|
0.02661
|
NM_001271938.2(MEGF8):c.1933+13A>G
|
rs139484187
|
0.02617
|
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=)
|
rs140479803
|
0.02616
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=)
|
rs3751845
|
0.02471
|
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro)
|
rs1046088
|
0.02418
|
NM_133433.4(NIPBL):c.4561-16C>T
|
rs115403650
|
0.02404
|
NM_001429.4(EP300):c.2131+18T>A
|
rs9611506
|
0.02398
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
NM_021922.3(FANCE):c.1071C>T (p.Leu357=)
|
rs3823434
|
0.02388
|
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=)
|
rs10425783
|
0.02385
|
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro)
|
rs61737142
|
0.02370
|
NM_001113378.2(FANCI):c.3816+15A>T
|
rs28493988
|
0.02368
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
NM_005592.4(MUSK):c.225C>T (p.Tyr75=)
|
rs56130155
|
0.02312
|
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=)
|
rs13008360
|
0.02306
|
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=)
|
rs77699867
|
0.02290
|
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)
|
rs35495399
|
0.02285
|
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=)
|
rs78635099
|
0.02283
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_020436.5(SALL4):c.645C>G (p.Leu215=)
|
rs61737139
|
0.02226
|
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser)
|
rs45604036
|
0.02192
|
NM_005592.4(MUSK):c.299C>T (p.Thr100Met)
|
rs35142681
|
0.02176
|
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser)
|
rs45557033
|
0.02173
|
NM_147127.5(EVC2):c.3557+10G>A
|
rs116218656
|
0.02138
|
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=)
|
rs61733844
|
0.02133
|
NM_006147.4(IRF6):c.1153T>C (p.Leu385=)
|
rs61099902
|
0.02121
|
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly)
|
rs35545453
|
0.02119
|
NM_133433.4(NIPBL):c.4421+7A>G
|
rs76297333
|
0.02109
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_003289.4(TPM2):c.773-4_773-3insA
|
rs1554658501
|
0.02101
|
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)
|
rs6739001
|
0.02064
|
NM_001429.4(EP300):c.5061+9C>T
|
rs73176628
|
0.02054
|
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=)
|
rs129974
|
0.02027
|
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)
|
rs35173688
|
0.02009
|
NM_017617.5(NOTCH1):c.2587+20G>A
|
rs148381982
|
0.01991
|
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)
|
rs61746895
|
0.01981
|
NM_000079.4(CHRNA1):c.540+4G>C
|
rs112674580
|
0.01914
|
NM_001429.4(EP300):c.1283-8T>C
|
rs76827562
|
0.01914
|
NM_001429.4(EP300):c.942C>T (p.Gly314=)
|
rs20553
|
0.01913
|
NM_133433.4(NIPBL):c.4240-14T>G
|
rs298972
|
0.01903
|
NM_022725.4(FANCF):c.825G>A (p.Leu275=)
|
rs36045913
|
0.01879
|
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)
|
rs114014006
|
0.01879
|
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)
|
rs57878668
|
0.01874
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)
|
rs61751557
|
0.01860
|
NM_147127.5(EVC2):c.3660-18C>A
|
rs6853237
|
0.01859
|
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)
|
rs17225943
|
0.01851
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=)
|
rs3025694
|
0.01815
|
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)
|
rs117936904
|
0.01806
|
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)
|
rs55916120
|
0.01802
|
NM_001374353.1(GLI2):c.1633-17C>T
|
rs78949549
|
0.01801
|
NM_001113378.2(FANCI):c.3651+19G>A
|
rs73472624
|
0.01789
|
NM_020436.5(SALL4):c.2130G>A (p.Thr710=)
|
rs61737143
|
0.01764
|
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)
|
rs2229970
|
0.01759
|
NM_014918.5(CHSY1):c.1896C>T (p.Val632=)
|
rs3803423
|
0.01721
|
NM_001429.4(EP300):c.2499G>A (p.Ser833=)
|
rs35560602
|
0.01700
|
NM_001429.4(EP300):c.6372C>T (p.Val2124=)
|
rs34985152
|
0.01700
|
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp)
|
rs118009068
|
0.01699
|
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met)
|
rs112167630
|
0.01684
|
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile)
|
rs76788798
|
0.01679
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=)
|
rs28483598
|
0.01653
|
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)
|
rs114376238
|
0.01651
|
NM_001271938.2(MEGF8):c.3351-3C>T
|
rs10411498
|
0.01637
|
NM_001113378.2(FANCI):c.868G>A (p.Val290Met)
|
rs113772230
|
0.01634
|
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile)
|
rs61746943
|
0.01614
|
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg)
|
rs74752435
|
0.01562
|
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=)
|
rs115594471
|
0.01560
|
NM_001429.4(EP300):c.3426C>T (p.Cys1142=)
|
rs76268515
|
0.01549
|
NM_014918.5(CHSY1):c.1812G>A (p.Val604=)
|
rs3803422
|
0.01536
|
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala)
|
rs16903425
|
0.01529
|
NM_006306.4(SMC1A):c.412-10C>T
|
rs149219651
|
0.01511
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_023110.3(FGFR1):c.2187-6C>T
|
rs4647904
|
0.01503
|
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=)
|
rs130003
|
0.01499
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile)
|
rs61731383
|
0.01447
|
NM_001374353.1(GLI2):c.963C>G (p.Pro321=)
|
rs149894186
|
0.01440
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
NM_173660.5(DOK7):c.1317C>T (p.Ser439=)
|
rs16844467
|
0.01424
|
NM_005236.3(ERCC4):c.33C>T (p.Ala11=)
|
rs3136042
|
0.01420
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_173660.5(DOK7):c.1143C>T (p.Pro381=)
|
rs56769879
|
0.01415
|
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)
|
rs2020958
|
0.01408
|
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=)
|
rs78335246
|
0.01393
|
NM_018062.4(FANCL):c.1077T>C (p.Cys359=)
|
rs11539575
|
0.01385
|
NM_013352.4(DSE):c.1118+15G>A
|
rs116330739
|
0.01381
|
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=)
|
rs114914860
|
0.01363
|
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn)
|
rs112596894
|
0.01345
|
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)
|
rs34625105
|
0.01344
|
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=)
|
rs115335139
|
0.01335
|
NM_017617.5(NOTCH1):c.2468-19G>A
|
rs116515776
|
0.01328
|
NM_001429.4(EP300):c.2131+17A>T
|
rs113214815
|
0.01318
|
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser)
|
rs56234888
|
0.01307
|
NM_017617.5(NOTCH1):c.1100-16G>C
|
rs146815871
|
0.01292
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
NM_173660.5(DOK7):c.653-19A>C
|
rs191981243
|
0.01231
|
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=)
|
rs34557339
|
0.01219
|
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=)
|
rs35468447
|
0.01216
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)
|
rs73063795
|
0.01215
|
NM_032634.4(PIGO):c.1404A>C (p.Ala468=)
|
rs35287398
|
0.01214
|
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)
|
rs2229973
|
0.01198
|
NM_058216.3(RAD51C):c.90G>A (p.Ala30=)
|
rs115414895
|
0.01193
|
NM_020436.5(SALL4):c.408T>C (p.Asn136=)
|
rs76870996
|
0.01190
|
NM_153717.3(EVC):c.1464+8A>G
|
rs116236414
|
0.01163
|
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)
|
rs61751548
|
0.01162
|
NM_153717.3(EVC):c.2373G>A (p.Gln791=)
|
rs73795089
|
0.01161
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
|
rs45451294
|
0.01158
|
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=)
|
rs61732852
|
0.01154
|
NM_002968.3(SALL1):c.2178G>A (p.Arg726=)
|
rs144019351
|
0.01142
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=)
|
rs55960450
|
0.01121
|
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser)
|
rs61753893
|
0.01090
|
NM_032634.4(PIGO):c.423C>T (p.Gly141=)
|
rs116248521
|
0.01090
|
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)
|
rs61731376
|
0.01088
|
NM_020937.4(FANCM):c.624A>G (p.Ile208Met)
|
rs45547534
|
0.01077
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_001429.4(EP300):c.2019T>C (p.Pro673=)
|
rs2230110
|
0.01054
|
NM_022725.4(FANCF):c.624G>T (p.Ala208=)
|
rs7103674
|
0.01048
|
NM_001113525.2(ZNF276):c.*1316C>T
|
rs9282680
|
0.01028
|
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)
|
rs16963255
|
0.01026
|
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)
|
rs62636220
|
0.01025
|
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)
|
rs74499562
|
0.01024
|
NM_004380.3(CREBBP):c.459G>A (p.Pro153=)
|
rs56388626
|
0.01000
|
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)
|
rs3812596
|
0.01000
|
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=)
|
rs77718962
|
0.00998
|
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr)
|
rs75182789
|
0.00995
|
NM_153717.3(EVC):c.385-16C>T
|
rs113571700
|
0.00995
|
NM_001999.4(FBN2):c.2778C>T (p.Ala926=)
|
rs28763948
|
0.00992
|
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)
|
rs148331061
|
0.00992
|
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)
|
rs35287723
|
0.00977
|
NM_005445.4(SMC3):c.1092-8T>G
|
rs79912955
|
0.00975
|
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=)
|
rs150535071
|
0.00974
|
NM_032444.4(SLX4):c.999C>T (p.Ile333=)
|
rs7198338
|
0.00974
|
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)
|
rs149140724
|
0.00970
|
NM_153717.3(EVC):c.2505G>A (p.Ser835=)
|
rs115976359
|
0.00969
|
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)
|
rs115694169
|
0.00968
|
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser)
|
rs79448721
|
0.00968
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_001346754.2(PIGW):c.1020C>T (p.Ala340=)
|
rs74323480
|
0.00953
|
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=)
|
rs55856815
|
0.00952
|
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
|
rs3136056
|
0.00941
|
NM_133433.4(NIPBL):c.3121+11T>G
|
rs457583
|
0.00941
|
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)
|
rs34152221
|
0.00938
|
NM_002334.4(LRP4):c.5010G>A (p.Val1670=)
|
rs111426027
|
0.00936
|
NM_002968.3(SALL1):c.2544A>G (p.Gln848=)
|
rs45459896
|
0.00931
|
NM_001271938.2(MEGF8):c.6641+15G>A
|
rs118098511
|
0.00926
|
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln)
|
rs79174372
|
0.00921
|
NM_000751.3(CHRND):c.243C>T (p.His81=)
|
rs115841867
|
0.00919
|
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=)
|
rs7142192
|
0.00916
|
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser)
|
rs116519044
|
0.00914
|
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)
|
rs116711473
|
0.00908
|
NM_147127.5(EVC2):c.1311A>G (p.Leu437=)
|
rs77131452
|
0.00904
|
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)
|
rs144917960
|
0.00895
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001346754.2(PIGW):c.705C>G (p.His235Gln)
|
rs61755368
|
0.00885
|
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=)
|
rs35748854
|
0.00882
|
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys)
|
rs11881304
|
0.00870
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)
|
rs55980657
|
0.00869
|
NM_014918.5(CHSY1):c.114C>T (p.Gly38=)
|
rs773533401
|
0.00867
|
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)
|
rs79343837
|
0.00864
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)
|
rs114024753
|
0.00863
|
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)
|
rs11574889
|
0.00854
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)
|
rs73074138
|
0.00851
|
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)
|
rs138615800
|
0.00848
|
NM_022725.4(FANCF):c.96C>T (p.Arg32=)
|
rs151253274
|
0.00838
|
NM_001429.4(EP300):c.2998-12G>A
|
rs115849119
|
0.00836
|
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=)
|
rs111894696
|
0.00835
|
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=)
|
rs61732850
|
0.00832
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)
|
rs143662421
|
0.00824
|
NM_000136.3(FANCC):c.1330-3C>T
|
rs4647542
|
0.00811
|
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp)
|
rs1056085
|
0.00810
|
NM_000751.3(CHRND):c.932+20G>A
|
rs114022008
|
0.00793
|
NM_020937.4(FANCM):c.2445G>A (p.Ser815=)
|
rs61745871
|
0.00791
|
NM_173660.5(DOK7):c.332-4G>A
|
rs199578351
|
0.00790
|
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=)
|
rs61754523
|
0.00785
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)
|
rs17175898
|
0.00782
|
NM_002968.3(SALL1):c.390G>A (p.Pro130=)
|
rs75156807
|
0.00781
|
NM_017617.5(NOTCH1):c.2969+13C>T
|
rs7864720
|
0.00778
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys)
|
rs143818824
|
0.00776
|
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=)
|
rs116781836
|
0.00774
|
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=)
|
rs34405660
|
0.00772
|
NM_001018115.3(FANCD2):c.3105+15C>T
|
rs460965
|
0.00770
|
NM_022725.4(FANCF):c.387C>T (p.Leu129=)
|
rs45556032
|
0.00759
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
NM_001271938.2(MEGF8):c.5011+15C>T
|
rs78233194
|
0.00745
|
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=)
|
rs74784454
|
0.00742
|
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)
|
rs36084488
|
0.00738
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_001429.4(EP300):c.1168+7G>C
|
rs181755354
|
0.00718
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)
|
rs56341011
|
0.00711
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_001271938.2(MEGF8):c.5489-16C>T
|
rs35875097
|
0.00707
|
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)
|
rs2020953
|
0.00706
|
NM_001018113.3(FANCB):c.402A>G (p.Leu134=)
|
rs147260208
|
0.00701
|
NM_032444.4(SLX4):c.1924+19C>A
|
rs113075119
|
0.00694
|
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)
|
rs11574872
|
0.00685
|
NM_003334.4(UBA1):c.2308A>C (p.Asn770His)
|
rs143044923
|
0.00683
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg)
|
rs61744209
|
0.00677
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala)
|
rs138972736
|
0.00672
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=)
|
rs62648096
|
0.00664
|
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His)
|
rs79843573
|
0.00659
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_147127.5(EVC2):c.2707-5T>C
|
rs186058156
|
0.00650
|
NM_032444.4(SLX4):c.1803G>A (p.Ser601=)
|
rs144892556
|
0.00649
|
NM_017617.5(NOTCH1):c.5019-13A>G
|
rs148002954
|
0.00648
|
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)
|
rs142030651
|
0.00646
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
NM_017617.5(NOTCH1):c.5168-10G>A
|
rs199903655
|
0.00645
|
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=)
|
rs115428796
|
0.00640
|
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)
|
rs61751490
|
0.00638
|
NM_032444.4(SLX4):c.1755C>T (p.Pro585=)
|
rs114016359
|
0.00638
|
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)
|
rs61731131
|
0.00636
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
NM_032634.4(PIGO):c.1120-15C>A
|
rs77344591
|
0.00631
|
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)
|
rs114810692
|
0.00625
|
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)
|
rs2020957
|
0.00625
|
NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu)
|
rs75160167
|
0.00623
|
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=)
|
rs115536529
|
0.00618
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)
|
rs181646656
|
0.00612
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
NM_001278689.2(EOGT):c.620+17G>A
|
rs144884919
|
0.00611
|
NM_005105.5(RBM8A):c.68-6T>C
|
rs112273321
|
0.00607
|
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)
|
rs61752920
|
0.00605
|
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=)
|
rs149279834
|
0.00602
|
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)
|
rs34592408
|
0.00601
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_022725.4(FANCF):c.557C>T (p.Ala186Val)
|
rs113910234
|
0.00595
|
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)
|
rs45479896
|
0.00589
|
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln)
|
rs75579358
|
0.00578
|
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)
|
rs111738042
|
0.00575
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)
|
rs113869406
|
0.00570
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_023110.3(FGFR1):c.345C>T (p.Ser115=)
|
rs2915665
|
0.00567
|
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)
|
rs61737716
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_000135.4(FANCA):c.1359+10C>T
|
rs34159559
|
0.00557
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
NM_032634.4(PIGO):c.1473G>C (p.Leu491=)
|
rs76932500
|
0.00557
|
NM_013352.4(DSE):c.114C>T (p.Ala38=)
|
rs36061922
|
0.00553
|
NM_000751.3(CHRND):c.1253-8G>A
|
rs144545619
|
0.00548
|
NM_003334.4(UBA1):c.2364C>T (p.Ala788=)
|
rs2228658
|
0.00548
|
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly)
|
rs115242287
|
0.00534
|
NM_014918.5(CHSY1):c.333G>A (p.Lys111=)
|
rs117481449
|
0.00530
|
NM_005055.5(RAPSN):c.193-14G>A
|
rs114738594
|
0.00529
|
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)
|
rs114823319
|
0.00522
|
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)
|
rs114142742
|
0.00521
|
NM_000135.4(FANCA):c.1826+12C>T
|
rs183513839
|
0.00518
|
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser)
|
rs139688311
|
0.00518
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)
|
rs116502852
|
0.00513
|
NM_147127.5(EVC2):c.1845C>T (p.Thr615=)
|
rs112747818
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_032634.4(PIGO):c.2040G>C (p.Leu680=)
|
rs41274877
|
0.00511
|
NM_000135.4(FANCA):c.21G>T (p.Pro7=)
|
rs115856189
|
0.00509
|
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=)
|
rs576629405
|
0.00506
|
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly)
|
rs537269414
|
0.00506
|
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)
|
rs61751486
|
0.00503
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
NM_001113378.2(FANCI):c.1699-7C>A
|
rs28446881
|
0.00498
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
NM_013352.4(DSE):c.711G>C (p.Leu237=)
|
rs140034597
|
0.00484
|
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)
|
rs61733294
|
0.00484
|
NM_001374353.1(GLI2):c.720C>T (p.Asp240=)
|
rs142793481
|
0.00483
|
NM_002968.3(SALL1):c.292A>G (p.Met98Val)
|
rs28643388
|
0.00481
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)
|
rs143654474
|
0.00477
|
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp)
|
rs114744903
|
0.00474
|
NM_005105.5(RBM8A):c.240C>T (p.Val80=)
|
rs1806851
|
0.00473
|
NM_014918.5(CHSY1):c.423C>T (p.Asp141=)
|
rs115447262
|
0.00473
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=)
|
rs112433681
|
0.00470
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)
|
rs146467786
|
0.00465
|
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)
|
rs146207623
|
0.00465
|
NM_147127.5(EVC2):c.675A>G (p.Gly225=)
|
rs74930168
|
0.00463
|
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys)
|
rs28378332
|
0.00462
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
NM_002334.4(LRP4):c.300G>A (p.Ser100=)
|
rs61745166
|
0.00459
|
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)
|
rs34462132
|
0.00456
|
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys)
|
rs61730251
|
0.00456
|
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)
|
rs7052858
|
0.00452
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val)
|
rs149125003
|
0.00450
|
NM_022725.4(FANCF):c.883G>A (p.Val295Ile)
|
rs7103293
|
0.00448
|
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)
|
rs112906840
|
0.00438
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=)
|
rs148293104
|
0.00434
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
NM_006306.4(SMC1A):c.298+19A>G
|
rs113817745
|
0.00432
|
NM_021922.3(FANCE):c.1572G>A (p.Arg524=)
|
rs115195341
|
0.00429
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_001999.4(FBN2):c.6512-17G>C
|
rs28763932
|
0.00427
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_006265.3(RAD21):c.938-11T>C
|
rs200333487
|
0.00417
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)
|
rs148304857
|
0.00413
|
NM_000136.3(FANCC):c.-79+5G>A
|
rs4647350
|
0.00411
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=)
|
rs138473998
|
0.00407
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)
|
rs114077770
|
0.00403
|
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)
|
rs75817442
|
0.00402
|
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=)
|
rs145002451
|
0.00402
|
NM_017617.5(NOTCH1):c.62-8C>T
|
rs202023246
|
0.00401
|
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)
|
rs79080874
|
0.00400
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys)
|
rs77532752
|
0.00398
|
NM_001271938.2(MEGF8):c.352-4G>A
|
rs143955737
|
0.00396
|
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=)
|
rs115491049
|
0.00396
|
NM_032444.4(SLX4):c.336G>A (p.Pro112=)
|
rs79126454
|
0.00393
|
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)
|
rs79685648
|
0.00388
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)
|
rs76523157
|
0.00388
|
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)
|
rs61746928
|
0.00385
|
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp)
|
rs113986680
|
0.00382
|
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser)
|
rs78770603
|
0.00380
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)
|
rs77374493
|
0.00371
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=)
|
rs116076068
|
0.00366
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser)
|
rs7196345
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_002334.4(LRP4):c.2151C>T (p.Gly717=)
|
rs114920029
|
0.00361
|
NM_005445.4(SMC3):c.2644+6T>A
|
rs201281088
|
0.00359
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)
|
rs145177450
|
0.00356
|
NM_001278689.2(EOGT):c.783C>T (p.His261=)
|
rs147327086
|
0.00355
|
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)
|
rs149731356
|
0.00355
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
NM_000751.3(CHRND):c.1371+7G>T
|
rs188395796
|
0.00350
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=)
|
rs115592862
|
0.00337
|
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)
|
rs72905825
|
0.00337
|
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu)
|
rs55786136
|
0.00337
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)
|
rs116316039
|
0.00334
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu)
|
rs59706816
|
0.00333
|
NM_004629.2(FANCG):c.238C>T (p.Leu80=)
|
rs115131067
|
0.00330
|
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)
|
rs148193087
|
0.00329
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_002334.4(LRP4):c.2506+18G>A
|
rs148998354
|
0.00327
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)
|
rs146059306
|
0.00325
|
NM_022725.4(FANCF):c.199A>C (p.Arg67=)
|
rs146647469
|
0.00325
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_000135.4(FANCA):c.1626+16C>T
|
rs1800333
|
0.00322
|
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=)
|
rs11556721
|
0.00322
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
NM_004380.3(CREBBP):c.333C>T (p.Asn111=)
|
rs150229705
|
0.00320
|
NM_020937.4(FANCM):c.2190A>G (p.Gln730=)
|
rs117392855
|
0.00320
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_017617.5(NOTCH1):c.1669+13G>A
|
rs147260092
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=)
|
rs142667852
|
0.00318
|
NM_001374353.1(GLI2):c.2211G>T (p.Arg737=)
|
rs142856393
|
0.00317
|
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val)
|
rs34557223
|
0.00316
|
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)
|
rs139646526
|
0.00316
|
NM_020937.4(FANCM):c.4222+7T>G
|
rs148675704
|
0.00316
|
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys)
|
rs150253578
|
0.00314
|
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)
|
rs201985795
|
0.00314
|
NM_005445.4(SMC3):c.92-19A>G
|
rs140102981
|
0.00310
|
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
|
rs149171782
|
0.00310
|
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)
|
rs113634293
|
0.00308
|
NM_002334.4(LRP4):c.1551T>C (p.Ala517=)
|
rs150777198
|
0.00307
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)
|
rs61751535
|
0.00307
|
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu)
|
rs140892471
|
0.00307
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
|
rs149011965
|
0.00302
|
NM_005592.4(MUSK):c.80-8C>T
|
rs199705752
|
0.00301
|
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)
|
rs77084550
|
0.00300
|
NM_006265.3(RAD21):c.786C>T (p.Asp262=)
|
rs34653007
|
0.00300
|
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=)
|
rs113831595
|
0.00300
|
NM_006265.3(RAD21):c.1515C>G (p.Pro505=)
|
rs9297560
|
0.00298
|
NM_021922.3(FANCE):c.1510-11C>T
|
rs189384185
|
0.00297
|
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val)
|
rs144670544
|
0.00294
|
NM_017617.5(NOTCH1):c.5384+13C>T
|
rs112582298
|
0.00291
|
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu)
|
rs146454164
|
0.00290
|
NM_005236.3(ERCC4):c.2724C>T (p.Val908=)
|
rs3136225
|
0.00290
|
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser)
|
rs41274696
|
0.00290
|
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)
|
rs2229972
|
0.00289
|
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=)
|
rs35320927
|
0.00289
|
NM_001429.4(EP300):c.1623-20T>C
|
rs151092312
|
0.00288
|
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
|
rs145733598
|
0.00287
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)
|
rs373880077
|
0.00285
|
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)
|
rs61757385
|
0.00285
|
NM_001271938.2(MEGF8):c.5488+12T>C
|
rs188285054
|
0.00284
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)
|
rs55773634
|
0.00282
|
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
NM_001429.4(EP300):c.2064A>G (p.Leu688=)
|
rs61756763
|
0.00282
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_013352.4(DSE):c.209G>A (p.Arg70His)
|
rs147683614
|
0.00278
|
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp)
|
rs142562923
|
0.00277
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_003334.4(UBA1):c.346-3C>A
|
rs149947901
|
0.00271
|
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
|
rs139945437
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_001271938.2(MEGF8):c.6481+11T>G
|
rs138919410
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_001374353.1(GLI2):c.148+14C>T
|
rs190309269
|
0.00269
|
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val)
|
rs148871932
|
0.00268
|
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096
|
0.00267
|
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln)
|
rs149787596
|
0.00266
|
NM_000751.3(CHRND):c.414C>T (p.Phe138=)
|
rs150208750
|
0.00265
|
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=)
|
rs34201226
|
0.00261
|
NM_001113378.2(FANCI):c.3255+6dup
|
rs878854178
|
0.00258
|
NM_001429.4(EP300):c.5814G>A (p.Thr1938=)
|
rs112948044
|
0.00258
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
NM_006306.4(SMC1A):c.1254+11G>C
|
rs144354524
|
0.00258
|
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)
|
rs17232973
|
0.00257
|
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)
|
rs139814895
|
0.00257
|
NM_021922.3(FANCE):c.248+7C>A
|
rs186563531
|
0.00255
|
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser)
|
rs61732851
|
0.00254
|
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val)
|
rs146992756
|
0.00254
|
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=)
|
rs113819179
|
0.00254
|
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)
|
rs148382699
|
0.00253
|
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=)
|
rs2072381
|
0.00252
|
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)
|
rs118031800
|
0.00251
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_003334.4(UBA1):c.2595A>G (p.Ala865=)
|
rs139492208
|
0.00247
|
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro)
|
rs150549656
|
0.00245
|
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)
|
rs151071546
|
0.00243
|
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)
|
rs145419117
|
0.00243
|
NM_003334.4(UBA1):c.1233+13G>A
|
rs141049438
|
0.00241
|
NM_001271938.2(MEGF8):c.5721-10T>C
|
rs188531875
|
0.00240
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
NM_006147.4(IRF6):c.759T>C (p.Tyr253=)
|
rs41303263
|
0.00237
|
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)
|
rs79063654
|
0.00237
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_002334.4(LRP4):c.1191T>C (p.Asn397=)
|
rs73458078
|
0.00233
|
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559
|
0.00233
|
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)
|
rs77513082
|
0.00232
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_133433.4(NIPBL):c.3502+17A>C
|
rs144725401
|
0.00230
|
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=)
|
rs138440449
|
0.00229
|
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)
|
rs3743377
|
0.00228
|
NM_001374353.1(GLI2):c.255-17G>T
|
rs199499256
|
0.00227
|
NM_001429.4(EP300):c.6636G>A (p.Gln2212=)
|
rs142673005
|
0.00225
|
NM_001999.4(FBN2):c.2428+6T>A
|
rs77493726
|
0.00225
|
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=)
|
rs200998860
|
0.00223
|
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=)
|
rs150245745
|
0.00223
|
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)
|
rs147580961
|
0.00222
|
NM_002334.4(LRP4):c.1494C>T (p.Asn498=)
|
rs61749083
|
0.00221
|
NM_005055.5(RAPSN):c.913-15A>G
|
rs185204384
|
0.00221
|
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)
|
rs142903218
|
0.00221
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)
|
rs73491901
|
0.00217
|
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)
|
rs73491896
|
0.00217
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
NM_005055.5(RAPSN):c.960G>A (p.Gly320=)
|
rs145357531
|
0.00216
|
NM_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
NM_022725.4(FANCF):c.786A>G (p.Leu262=)
|
rs11026706
|
0.00215
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr)
|
rs150415034
|
0.00210
|
NM_005592.4(MUSK):c.666T>C (p.Asn222=)
|
rs56044404
|
0.00208
|
NM_005592.4(MUSK):c.914-14T>G
|
rs146206123
|
0.00207
|
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=)
|
rs142375989
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val)
|
rs141982003
|
0.00206
|
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met)
|
rs147158259
|
0.00206
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)
|
rs138635817
|
0.00203
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala)
|
rs36049318
|
0.00200
|
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser)
|
rs139022152
|
0.00200
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)
|
rs35962301
|
0.00195
|
NM_130468.4(CHST14):c.288G>A (p.Arg96=)
|
rs371684007
|
0.00195
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=)
|
rs139648725
|
0.00193
|
NM_005105.5(RBM8A):c.205+17C>A
|
rs115417561
|
0.00191
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly)
|
rs151178507
|
0.00188
|
NM_032444.4(SLX4):c.2328-9G>C
|
rs73505419
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_133433.4(NIPBL):c.4320+14A>G
|
rs377381536
|
0.00186
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=)
|
rs74533173
|
0.00185
|
NM_022725.4(FANCF):c.246C>T (p.Asn82=)
|
rs139724351
|
0.00185
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)
|
rs144850468
|
0.00183
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His)
|
rs139686081
|
0.00181
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)
|
rs149071226
|
0.00178
|
NM_014918.5(CHSY1):c.39G>A (p.Leu13=)
|
rs764100516
|
0.00178
|
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)
|
rs376744729
|
0.00178
|
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=)
|
rs142333130
|
0.00178
|
NM_133433.4(NIPBL):c.65-17G>C
|
rs201348552
|
0.00178
|
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=)
|
rs145886667
|
0.00177
|
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)
|
rs114259687
|
0.00177
|
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495
|
0.00177
|
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)
|
rs114463490
|
0.00175
|
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)
|
rs28763923
|
0.00175
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=)
|
rs147287474
|
0.00175
|
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)
|
rs3812602
|
0.00175
|
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)
|
rs140088149
|
0.00173
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)
|
rs17227071
|
0.00172
|
NM_001429.4(EP300):c.5259C>T (p.Cys1753=)
|
rs148040990
|
0.00172
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_173660.5(DOK7):c.921C>T (p.Ala307=)
|
rs138148221
|
0.00170
|
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)
|
rs138013482
|
0.00166
|
NM_000135.4(FANCA):c.1360-10C>G
|
rs150836356
|
0.00165
|
NM_147127.5(EVC2):c.2487G>A (p.Glu829=)
|
rs16837501
|
0.00165
|
NM_013352.4(DSE):c.216G>A (p.Thr72=)
|
rs61747210
|
0.00164
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_001018115.3(FANCD2):c.3560+20C>T
|
rs55804542
|
0.00162
|
NM_003334.4(UBA1):c.2004-13C>T
|
rs201794720
|
0.00162
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_001429.4(EP300):c.678C>G (p.Gly226=)
|
rs147244947
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)
|
rs191357265
|
0.00156
|
NM_018062.4(FANCL):c.817T>C (p.Leu273=)
|
rs61753272
|
0.00156
|
NM_000136.3(FANCC):c.-29A>C
|
rs4647414
|
0.00155
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_000136.3(FANCC):c.840G>A (p.Ser280=)
|
rs34671520
|
0.00154
|
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=)
|
rs3745237
|
0.00153
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_173660.5(DOK7):c.532+18G>A
|
rs200487431
|
0.00153
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)
|
rs114549781
|
0.00150
|
NM_001429.4(EP300):c.4311A>C (p.Ala1437=)
|
rs150941761
|
0.00150
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)
|
rs147173201
|
0.00149
|
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)
|
rs143491078
|
0.00149
|
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)
|
rs192683347
|
0.00148
|
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=)
|
rs58735123
|
0.00148
|
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn)
|
rs145192583
|
0.00147
|
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)
|
rs200099319
|
0.00147
|
NM_020937.4(FANCM):c.1041G>A (p.Pro347=)
|
rs140998495
|
0.00147
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
NM_020436.5(SALL4):c.2376T>C (p.Asn792=)
|
rs143601538
|
0.00146
|
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr)
|
rs145275500
|
0.00146
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_001271938.2(MEGF8):c.6641+9G>A
|
rs112519292
|
0.00145
|
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)
|
rs754613772
|
0.00145
|
NM_004380.3(CREBBP):c.4133+19T>C
|
rs202204380
|
0.00143
|
NM_032634.4(PIGO):c.2166G>C (p.Ala722=)
|
rs147101825
|
0.00143
|
NM_001429.4(EP300):c.6210G>A (p.Val2070=)
|
rs11912899
|
0.00142
|
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)
|
rs189411650
|
0.00141
|
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)
|
rs140051968
|
0.00141
|
NM_002968.3(SALL1):c.264C>T (p.Ser88=)
|
rs143501736
|
0.00140
|
NM_004629.2(FANCG):c.646+12A>G
|
rs17878604
|
0.00139
|
NM_017617.5(NOTCH1):c.2207+16G>A
|
rs200956009
|
0.00139
|
NM_001429.4(EP300):c.1878+9C>G
|
rs186198699
|
0.00138
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
NM_005592.4(MUSK):c.79+11G>A
|
rs139516442
|
0.00138
|
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
|
rs140823801
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_001429.4(EP300):c.5061+10G>A
|
rs78432056
|
0.00135
|
NM_001999.4(FBN2):c.4595-11G>C
|
rs199640787
|
0.00135
|
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)
|
rs147463420
|
0.00135
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_017617.5(NOTCH1):c.3511-10G>A
|
rs139838537
|
0.00134
|
NM_001999.4(FBN2):c.5675-12_5675-11insG
|
rs150372632
|
0.00133
|
NM_017617.5(NOTCH1):c.865+18C>T
|
rs55677618
|
0.00133
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)
|
rs116380142
|
0.00131
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
NM_002334.4(LRP4):c.4674C>T (p.His1558=)
|
rs61742905
|
0.00127
|
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_003334.4(UBA1):c.480+19C>G
|
rs200340536
|
0.00125
|
NM_005592.4(MUSK):c.1361-12T>C
|
rs115337040
|
0.00125
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
NM_001113378.2(FANCI):c.3925-14C>G
|
rs148365638
|
0.00124
|
NM_001271938.2(MEGF8):c.4504-14G>A
|
rs111624233
|
0.00124
|
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met)
|
rs142296407
|
0.00124
|
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)
|
rs61731405
|
0.00124
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_014918.5(CHSY1):c.975C>T (p.Ser325=)
|
rs142783588
|
0.00124
|
NM_020436.5(SALL4):c.1557C>T (p.Pro519=)
|
rs75554760
|
0.00124
|
NM_020436.5(SALL4):c.1950C>T (p.Gly650=)
|
rs149008635
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_001374353.1(GLI2):c.1662C>T (p.Cys554=)
|
rs143055766
|
0.00120
|
NM_001999.4(FBN2):c.255-18C>A
|
rs200300875
|
0.00120
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_018486.3(HDAC8):c.57C>T (p.Ile19=)
|
rs145362166
|
0.00120
|
NM_020436.5(SALL4):c.1353C>T (p.Ala451=)
|
rs140110863
|
0.00120
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=)
|
rs141869477
|
0.00117
|
NM_000135.4(FANCA):c.115A>C (p.Arg39=)
|
rs17232091
|
0.00116
|
NM_004380.3(CREBBP):c.1574-12C>T
|
rs185243405
|
0.00116
|
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)
|
rs144832179
|
0.00116
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=)
|
rs147040906
|
0.00115
|
NM_023110.3(FGFR1):c.449-9C>G
|
rs17182303
|
0.00115
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_173660.5(DOK7):c.831C>T (p.Ala277=)
|
rs150549589
|
0.00113
|
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)
|
rs147676363
|
0.00112
|
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=)
|
rs150097733
|
0.00112
|
NM_058216.3(RAD51C):c.837+13T>C
|
rs188613030
|
0.00112
|
NM_001429.4(EP300):c.1686A>C (p.Pro562=)
|
rs144993798
|
0.00111
|
NM_014918.5(CHSY1):c.534A>G (p.Gly178=)
|
rs3743192
|
0.00111
|
NM_130468.4(CHST14):c.210C>T (p.Pro70=)
|
rs191997027
|
0.00111
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_001999.4(FBN2):c.5353+10C>T
|
rs113589974
|
0.00110
|
NM_018062.4(FANCL):c.402T>C (p.Ser134=)
|
rs145284589
|
0.00110
|
NM_020436.5(SALL4):c.2166A>G (p.Leu722=)
|
rs141708963
|
0.00110
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
NM_005592.4(MUSK):c.1941C>T (p.Val647=)
|
rs200312379
|
0.00108
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
NM_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
NM_001999.4(FBN2):c.4949-18C>G
|
rs372234336
|
0.00106
|
NM_005592.4(MUSK):c.1683G>A (p.Leu561=)
|
rs192173278
|
0.00105
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
NM_147127.5(EVC2):c.2707-13A>T
|
rs146588799
|
0.00105
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
NM_001018115.3(FANCD2):c.491+10G>A
|
rs17032279
|
0.00103
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00103
|
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)
|
rs144609433
|
0.00103
|
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)
|
rs115235667
|
0.00103
|
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)
|
rs1801167
|
0.00102
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=)
|
rs151090814
|
0.00101
|
NM_001999.4(FBN2):c.4222+12A>G
|
rs79445561
|
0.00101
|
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=)
|
rs148075057
|
0.00101
|
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)
|
rs111489369
|
0.00100
|
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)
|
rs142775128
|
0.00099
|
NM_003289.4(TPM2):c.564-18dup
|
rs776086128
|
0.00099
|
NM_005592.4(MUSK):c.1026G>A (p.Ala342=)
|
rs200434321
|
0.00098
|
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=)
|
rs373759775
|
0.00097
|
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=)
|
rs116741030
|
0.00096
|
NM_020436.5(SALL4):c.1497G>T (p.Thr499=)
|
rs148435082
|
0.00096
|
NM_003334.4(UBA1):c.909+12G>A
|
rs367556596
|
0.00095
|
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile)
|
rs151009402
|
0.00095
|
NM_032634.4(PIGO):c.2124G>A (p.Leu708=)
|
rs201657672
|
0.00095
|
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861
|
0.00095
|
NM_001374353.1(GLI2):c.129A>C (p.Ala43=)
|
rs201041526
|
0.00094
|
NM_002334.4(LRP4):c.4951+10A>G
|
rs371455422
|
0.00093
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_001429.4(EP300):c.6675G>A (p.Gln2225=)
|
rs147880144
|
0.00092
|
NM_020937.4(FANCM):c.1397-12A>G
|
rs560956489
|
0.00092
|
NM_023110.3(FGFR1):c.1081+20C>T
|
rs17175982
|
0.00092
|
NM_005236.3(ERCC4):c.974-6T>C
|
rs201181735
|
0.00091
|
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=)
|
rs151237975
|
0.00091
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_000135.4(FANCA):c.237C>T (p.Asp79=)
|
rs144151341
|
0.00089
|
NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser)
|
rs117789606
|
0.00089
|
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp)
|
rs80248061
|
0.00089
|
NM_005592.4(MUSK):c.358+20G>A
|
rs144807641
|
0.00089
|
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=)
|
rs146586939
|
0.00089
|
NM_003334.4(UBA1):c.117+9C>T
|
rs371344095
|
0.00088
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_001374353.1(GLI2):c.2199T>G (p.Thr733=)
|
rs146909860
|
0.00086
|
NM_001374353.1(GLI2):c.291C>T (p.Asp97=)
|
rs199671413
|
0.00086
|
NM_005105.5(RBM8A):c.318C>T (p.Leu106=)
|
rs139097271
|
0.00086
|
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=)
|
rs371634784
|
0.00086
|
NM_001429.4(EP300):c.4779+18A>G
|
rs146245982
|
0.00084
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
NM_001429.4(EP300):c.2998-14dup
|
rs560058125
|
0.00083
|
NM_001429.4(EP300):c.3143-9T>C
|
rs199773872
|
0.00083
|
NM_001999.4(FBN2):c.3974-19T>C
|
rs112950479
|
0.00083
|
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu)
|
rs45600543
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
NM_032043.3(BRIP1):c.2257+19A>C
|
rs77851913
|
0.00079
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu)
|
rs117707719
|
0.00078
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=)
|
rs140907869
|
0.00077
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_002334.4(LRP4):c.141C>G (p.Ala47=)
|
rs543418199
|
0.00076
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=)
|
rs141851878
|
0.00076
|
NM_000079.4(CHRNA1):c.189+12G>A
|
rs201168898
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_001374353.1(GLI2):c.1533C>T (p.Thr511=)
|
rs137960978
|
0.00075
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=)
|
rs149110951
|
0.00073
|
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)
|
rs149290823
|
0.00073
|
NM_005445.4(SMC3):c.276T>C (p.Asp92=)
|
rs199936534
|
0.00073
|
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)
|
rs61751554
|
0.00073
|
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg)
|
rs77538589
|
0.00073
|
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)
|
rs149531696
|
0.00072
|
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)
|
rs145714752
|
0.00072
|
NM_023110.3(FGFR1):c.1855-16C>T
|
rs371160786
|
0.00071
|
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)
|
rs34936017
|
0.00070
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
NM_004380.3(CREBBP):c.1216+20C>A
|
rs200567815
|
0.00070
|
NM_004380.3(CREBBP):c.3698+7G>A
|
rs374345970
|
0.00070
|
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)
|
rs374230681
|
0.00070
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)
|
rs55790011
|
0.00069
|
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=)
|
rs200608278
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_001429.4(EP300):c.4599C>G (p.Thr1533=)
|
rs143885808
|
0.00068
|
NM_001429.4(EP300):c.5271C>T (p.Ser1757=)
|
rs138917060
|
0.00068
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
NM_006265.3(RAD21):c.1471-11A>G
|
rs112473657
|
0.00068
|
NM_017617.5(NOTCH1):c.1669+15C>T
|
rs576849563
|
0.00068
|
NM_001018115.3(FANCD2):c.2269+12A>G
|
rs34751191
|
0.00067
|
NM_001999.4(FBN2):c.132G>C (p.Pro44=)
|
rs199702573
|
0.00067
|
NM_003334.4(UBA1):c.648A>G (p.Pro216=)
|
rs146676571
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=)
|
rs146885610
|
0.00066
|
NM_020937.4(FANCM):c.990A>G (p.Thr330=)
|
rs138677111
|
0.00066
|
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=)
|
rs144776083
|
0.00065
|
NM_000135.4(FANCA):c.2364C>T (p.Ala788=)
|
rs149754397
|
0.00064
|
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=)
|
rs149560660
|
0.00064
|
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=)
|
rs142395521
|
0.00064
|
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=)
|
rs192299793
|
0.00064
|
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=)
|
rs148394805
|
0.00064
|
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=)
|
rs181219364
|
0.00063
|
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val)
|
rs147675860
|
0.00063
|
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)
|
rs149243307
|
0.00063
|
NM_001999.4(FBN2):c.7841-16G>T
|
rs201231807
|
0.00063
|
NM_004380.3(CREBBP):c.4133+9G>A
|
rs376602227
|
0.00063
|
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser)
|
rs200207651
|
0.00063
|
NM_001429.4(EP300):c.94+13A>G
|
rs201124490
|
0.00062
|
NM_003289.4(TPM2):c.563+17G>A
|
rs201633747
|
0.00062
|
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=)
|
rs61751533
|
0.00062
|
NM_001999.4(FBN2):c.1749G>A (p.Gly583=)
|
rs75940000
|
0.00061
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00061
|
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=)
|
rs113219895
|
0.00061
|
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)
|
rs73668311
|
0.00061
|
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln)
|
rs45467798
|
0.00060
|
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)
|
rs200609501
|
0.00060
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)
|
rs144273492
|
0.00059
|
NM_147127.5(EVC2):c.1287T>C (p.Ser429=)
|
rs148775651
|
0.00059
|
NM_173660.5(DOK7):c.1020C>T (p.Ile340=)
|
rs370838856
|
0.00059
|
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg)
|
rs142101123
|
0.00058
|
NM_001113378.2(FANCI):c.1584-15C>G
|
rs199531931
|
0.00058
|
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)
|
rs140827311
|
0.00058
|
NM_017617.5(NOTCH1):c.140+17C>T
|
rs377269443
|
0.00058
|
NM_000751.3(CHRND):c.1253-9C>T
|
rs2853458
|
0.00057
|
NM_001113378.2(FANCI):c.1698+16G>A
|
rs142941067
|
0.00057
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_001018115.3(FANCD2):c.205+9T>G
|
rs34113138
|
0.00056
|
NM_017617.5(NOTCH1):c.1100-14C>T
|
rs562148507
|
0.00056
|
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)
|
rs148542094
|
0.00056
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_001999.4(FBN2):c.4472-12T>A
|
rs551686237
|
0.00054
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)
|
rs144900606
|
0.00053
|
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His)
|
rs140198444
|
0.00053
|
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)
|
rs118138806
|
0.00053
|
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)
|
rs369346436
|
0.00053
|
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)
|
rs139994842
|
0.00053
|
NM_032444.4(SLX4):c.2844G>A (p.Ala948=)
|
rs376877866
|
0.00053
|
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=)
|
rs34225188
|
0.00052
|
NM_001429.4(EP300):c.1168+20T>C
|
rs3818121
|
0.00052
|
NM_002334.4(LRP4):c.2506+17C>T
|
rs376349760
|
0.00052
|
NM_014918.5(CHSY1):c.573C>T (p.Ser191=)
|
rs147152103
|
0.00052
|
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His)
|
rs141153248
|
0.00051
|
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)
|
rs148781922
|
0.00051
|
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)
|
rs146216425
|
0.00051
|
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=)
|
rs368495371
|
0.00051
|
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=)
|
rs140844106
|
0.00051
|
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=)
|
rs145952190
|
0.00051
|
NM_147127.5(EVC2):c.2178G>A (p.Glu726=)
|
rs147015327
|
0.00051
|
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)
|
rs139207930
|
0.00050
|
NM_000474.4(TWIST1):c.369G>C (p.Ser123=)
|
rs144664279
|
0.00049
|
NM_001429.4(EP300):c.5364C>T (p.Leu1788=)
|
rs143551315
|
0.00049
|
NM_002968.3(SALL1):c.129C>T (p.His43=)
|
rs368688611
|
0.00049
|
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=)
|
rs117439608
|
0.00048
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met)
|
rs146997253
|
0.00048
|
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)
|
rs547153228
|
0.00048
|
NM_003334.4(UBA1):c.39C>T (p.Ser13=)
|
rs141450062
|
0.00048
|
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)
|
rs80358349
|
0.00048
|
NM_001018113.3(FANCB):c.69T>C (p.Leu23=)
|
rs151173533
|
0.00047
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
NM_001018115.3(FANCD2):c.4038+8G>A
|
rs190990145
|
0.00047
|
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=)
|
rs111756273
|
0.00047
|
NM_058216.3(RAD51C):c.706-18T>C
|
rs56401264
|
0.00047
|
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=)
|
rs139108785
|
0.00047
|
NM_153717.3(EVC):c.175-18C>G
|
rs114621329
|
0.00047
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_006306.4(SMC1A):c.1912-14C>T
|
rs375109064
|
0.00046
|
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln)
|
rs138151018
|
0.00046
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
NM_133433.4(NIPBL):c.804A>G (p.Ala268=)
|
rs144238532
|
0.00046
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001429.4(EP300):c.2568A>G (p.Ala856=)
|
rs145037345
|
0.00045
|
NM_002968.3(SALL1):c.2331C>T (p.Asn777=)
|
rs144747142
|
0.00045
|
NM_003289.4(TPM2):c.726C>T (p.Ala242=)
|
rs76414035
|
0.00045
|
NM_003334.4(UBA1):c.1137C>T (p.Asp379=)
|
rs143935711
|
0.00045
|
NM_006265.3(RAD21):c.468A>G (p.Gln156=)
|
rs530697556
|
0.00045
|
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=)
|
rs372760677
|
0.00045
|
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met)
|
rs368145743
|
0.00044
|
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=)
|
rs554810606
|
0.00044
|
NM_006306.4(SMC1A):c.2862+14C>T
|
rs180705944
|
0.00044
|
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=)
|
rs374989581
|
0.00044
|
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala)
|
rs149359253
|
0.00044
|
NM_001429.4(EP300):c.3063T>C (p.Thr1021=)
|
rs142431552
|
0.00043
|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=)
|
rs375728200
|
0.00043
|
NM_020436.5(SALL4):c.2493A>G (p.Arg831=)
|
rs79909922
|
0.00043
|
NM_020436.5(SALL4):c.2649C>T (p.Ser883=)
|
rs772770482
|
0.00043
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
|
rs140382957
|
0.00043
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
NM_006265.3(RAD21):c.1617A>G (p.Glu539=)
|
rs138040512
|
0.00042
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=)
|
rs149502195
|
0.00041
|
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)
|
rs749686245
|
0.00041
|
NM_018486.3(HDAC8):c.351G>T (p.Gly117=)
|
rs199969298
|
0.00041
|
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met)
|
rs147195029
|
0.00041
|
NM_023110.3(FGFR1):c.1854+19C>T
|
rs199830036
|
0.00041
|
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)
|
rs201490643
|
0.00041
|
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)
|
rs138418494
|
0.00040
|
NM_023110.3(FGFR1):c.1553-13G>A
|
rs17182414
|
0.00040
|
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)
|
rs146157131
|
0.00039
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
NM_017617.5(NOTCH1):c.3326-11A>C
|
rs377648586
|
0.00039
|
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)
|
rs61755043
|
0.00039
|
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)
|
rs143976596
|
0.00038
|
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)
|
rs143131218
|
0.00038
|
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg)
|
rs140016031
|
0.00038
|
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu)
|
rs142008620
|
0.00038
|
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)
|
rs3025679
|
0.00038
|
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)
|
rs61751550
|
0.00038
|
NM_032444.4(SLX4):c.231A>G (p.Gln77=)
|
rs143279888
|
0.00038
|
NM_133433.4(NIPBL):c.5011-13A>G
|
rs13177643
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu)
|
rs143508185
|
0.00037
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)
|
rs147255018
|
0.00036
|
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=)
|
rs144700510
|
0.00036
|
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=)
|
rs114376818
|
0.00036
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_133433.4(NIPBL):c.961A>C (p.Arg321=)
|
rs138720101
|
0.00036
|
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)
|
rs139551099
|
0.00035
|
NM_003334.4(UBA1):c.1242C>T (p.Ser414=)
|
rs369843264
|
0.00035
|
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)
|
rs373713957
|
0.00035
|
NM_001018115.3(FANCD2):c.3466+10C>T
|
rs200208121
|
0.00034
|
NM_001374353.1(GLI2):c.1632+11G>A
|
rs140347335
|
0.00034
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)
|
rs192923239
|
0.00034
|
NM_003334.4(UBA1):c.176+13A>G
|
rs186890744
|
0.00034
|
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)
|
rs150652786
|
0.00034
|
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
NM_000136.3(FANCC):c.*5C>T
|
rs117175949
|
0.00033
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_020436.5(SALL4):c.2835C>T (p.Asp945=)
|
rs143702441
|
0.00033
|
NM_005592.4(MUSK):c.2573G>A (p.Arg858His)
|
rs34115159
|
0.00032
|
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=)
|
rs371532644
|
0.00032
|
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu)
|
rs142820200
|
0.00032
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=)
|
rs200149538
|
0.00031
|
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=)
|
rs144649776
|
0.00031
|
NM_004380.3(CREBBP):c.3982+9C>T
|
rs114668693
|
0.00031
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn)
|
rs781213650
|
0.00031
|
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=)
|
rs781112420
|
0.00030
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00030
|
NM_018486.3(HDAC8):c.933G>A (p.Thr311=)
|
rs183108231
|
0.00030
|
NM_001018113.3(FANCB):c.1371C>T (p.Val457=)
|
rs149695930
|
0.00029
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala)
|
rs149992874
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr)
|
rs202045225
|
0.00029
|
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=)
|
rs201889382
|
0.00029
|
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)
|
rs199740882
|
0.00029
|
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)
|
rs374507681
|
0.00029
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
NM_001429.4(EP300):c.2380-18T>C
|
rs189468196
|
0.00028
|
NM_003334.4(UBA1):c.132C>T (p.Asn44=)
|
rs368727585
|
0.00028
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser)
|
rs535702482
|
0.00027
|
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)
|
rs143234424
|
0.00027
|
NM_001999.4(FBN2):c.2249-19A>G
|
rs193091226
|
0.00026
|
NM_001999.4(FBN2):c.5353+16G>A
|
rs187448568
|
0.00026
|
NM_001999.4(FBN2):c.8364+18dup
|
rs752497923
|
0.00026
|
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)
|
rs202231073
|
0.00026
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
NM_000135.4(FANCA):c.399C>T (p.His133=)
|
rs56190097
|
0.00025
|
NM_005592.4(MUSK):c.2331C>T (p.Asn777=)
|
rs56394142
|
0.00025
|
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)
|
rs762648754
|
0.00024
|
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)
|
rs192743430
|
0.00024
|
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
|
rs201037656
|
0.00024
|
NM_001999.4(FBN2):c.297T>C (p.Pro99=)
|
rs79375977
|
0.00024
|
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr)
|
rs149478641
|
0.00024
|
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=)
|
rs145953386
|
0.00023
|
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)
|
rs750681115
|
0.00023
|
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=)
|
rs140524372
|
0.00023
|
NM_003334.4(UBA1):c.1296C>T (p.Leu432=)
|
rs147825775
|
0.00023
|
NM_003334.4(UBA1):c.2793G>T (p.Leu931=)
|
rs782340410
|
0.00023
|
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=)
|
rs754282387
|
0.00023
|
NM_020436.5(SALL4):c.1113C>G (p.Val371=)
|
rs77810153
|
0.00023
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
0.00022
|
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=)
|
rs377742525
|
0.00022
|
NM_001999.4(FBN2):c.7013-7T>A
|
rs191729449
|
0.00022
|
NM_002968.3(SALL1):c.1200G>A (p.Ser400=)
|
rs79302764
|
0.00022
|
NM_133433.4(NIPBL):c.869-16C>T
|
rs3736396
|
0.00022
|
NM_001429.4(EP300):c.6043A>G (p.Met2015Val)
|
rs1351718424
|
0.00021
|
NM_004380.3(CREBBP):c.4560+14A>G
|
rs200934101
|
0.00021
|
NM_021922.3(FANCE):c.970-16C>T
|
rs117779586
|
0.00021
|
NM_000136.3(FANCC):c.1407G>A (p.Thr469=)
|
rs79722116
|
0.00020
|
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)
|
rs199909156
|
0.00020
|
NM_001429.4(EP300):c.324C>T (p.Ala108=)
|
rs138876937
|
0.00020
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_006306.4(SMC1A):c.3438-7C>T
|
rs782796392
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_022725.4(FANCF):c.465A>T (p.Pro155=)
|
rs201215734
|
0.00020
|
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)
|
rs61757383
|
0.00019
|
NM_001018113.3(FANCB):c.507T>C (p.Ser169=)
|
rs149609970
|
0.00019
|
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)
|
rs193026103
|
0.00019
|
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)
|
rs148127874
|
0.00019
|
NM_002968.3(SALL1):c.1950C>T (p.Gly650=)
|
rs138705495
|
0.00019
|
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=)
|
rs199885110
|
0.00019
|
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)
|
rs147952638
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032634.4(PIGO):c.2487G>T (p.Gly829=)
|
rs763623508
|
0.00019
|
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)
|
rs182298453
|
0.00019
|
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln)
|
rs201304841
|
0.00019
|
NM_001429.4(EP300):c.1104C>T (p.His368=)
|
rs78045947
|
0.00018
|
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)
|
rs34845843
|
0.00018
|
NM_018486.3(HDAC8):c.295+13C>T
|
rs138424378
|
0.00018
|
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00017
|
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile)
|
rs188375397
|
0.00017
|
NM_006306.4(SMC1A):c.2862+20G>A
|
rs374473076
|
0.00017
|
NM_017617.5(NOTCH1):c.1556-9C>T
|
rs150834418
|
0.00017
|
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)
|
rs202023240
|
0.00017
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_000135.4(FANCA):c.2152-20T>A
|
rs200403206
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=)
|
rs768378979
|
0.00016
|
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg)
|
rs140300789
|
0.00016
|
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
|
rs371512923
|
0.00016
|
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg)
|
rs146180431
|
0.00016
|
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)
|
rs371656213
|
0.00016
|
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=)
|
rs760548976
|
0.00016
|
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)
|
rs199666126
|
0.00016
|
NM_017617.5(NOTCH1):c.3511-11C>T
|
rs201280571
|
0.00016
|
NM_017617.5(NOTCH1):c.5385-18C>T
|
rs370602147
|
0.00016
|
NM_018486.3(HDAC8):c.164+19A>T
|
rs188536186
|
0.00016
|
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)
|
rs144131616
|
0.00016
|
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile)
|
rs55642501
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_032444.4(SLX4):c.2628C>T (p.Asp876=)
|
rs201279467
|
0.00016
|
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=)
|
rs371380435
|
0.00016
|
NM_173660.5(DOK7):c.765C>A (p.Gly255=)
|
rs138215484
|
0.00016
|
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly)
|
rs148257882
|
0.00015
|
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=)
|
rs745841768
|
0.00015
|
NM_001429.4(EP300):c.5565A>G (p.Pro1855=)
|
rs150532830
|
0.00015
|
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe)
|
rs150931558
|
0.00015
|
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=)
|
rs117115765
|
0.00015
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)
|
rs577305576
|
0.00015
|
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=)
|
rs782367851
|
0.00015
|
NM_018486.3(HDAC8):c.1111+9C>T
|
rs368139150
|
0.00015
|
NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln)
|
rs148688742
|
0.00015
|
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=)
|
rs183029626
|
0.00015
|
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
|
rs200698961
|
0.00014
|
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
|
rs188695241
|
0.00014
|
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr)
|
rs754552650
|
0.00014
|
NM_001018113.3(FANCB):c.960T>G (p.Ala320=)
|
rs139045247
|
0.00014
|
NM_001429.4(EP300):c.2916T>C (p.Pro972=)
|
rs142769483
|
0.00014
|
NM_001429.4(EP300):c.3537C>A (p.Gly1179=)
|
rs148939960
|
0.00014
|
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)
|
rs545524318
|
0.00014
|
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro)
|
rs748747684
|
0.00014
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00014
|
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=)
|
rs142846349
|
0.00014
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
NM_006306.4(SMC1A):c.1337+9C>T
|
rs376455825
|
0.00014
|
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=)
|
rs536299678
|
0.00014
|
NM_017617.5(NOTCH1):c.3901+12G>A
|
rs367600561
|
0.00014
|
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu)
|
rs761345476
|
0.00014
|
NM_020937.4(FANCM):c.30G>A (p.Gln10=)
|
rs145745979
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr)
|
rs748268896
|
0.00014
|
NM_153717.3(EVC):c.940-12C>G
|
rs200707006
|
0.00014
|
NM_000751.3(CHRND):c.199-19C>T
|
rs145984749
|
0.00013
|
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=)
|
rs149395670
|
0.00013
|
NM_001429.4(EP300):c.1782G>C (p.Thr594=)
|
rs17002307
|
0.00013
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
NM_003334.4(UBA1):c.1149C>T (p.Ile383=)
|
rs782140742
|
0.00013
|
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)
|
rs778915687
|
0.00013
|
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=)
|
rs148539895
|
0.00013
|
NM_005236.3(ERCC4):c.973+11A>T
|
rs185779788
|
0.00013
|
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)
|
rs1397523469
|
0.00013
|
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met)
|
rs377286829
|
0.00013
|
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)
|
rs376104770
|
0.00013
|
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu)
|
rs149726602
|
0.00013
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_032444.4(SLX4):c.2226C>T (p.Asp742=)
|
rs376261173
|
0.00013
|
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn)
|
rs202093384
|
0.00013
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
NM_001113525.2(ZNF276):c.*1313A>G
|
rs368376237
|
0.00012
|
NM_001113525.2(ZNF276):c.*471G>C
|
rs368506826
|
0.00012
|
NM_001429.4(EP300):c.4026-7T>C
|
rs187388966
|
0.00012
|
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)
|
rs756500246
|
0.00012
|
NM_001999.4(FBN2):c.7594+12G>A
|
rs184678810
|
0.00012
|
NM_003334.4(UBA1):c.2979C>T (p.Gly993=)
|
rs145283250
|
0.00012
|
NM_006306.4(SMC1A):c.861G>A (p.Lys287=)
|
rs782543093
|
0.00012
|
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=)
|
rs373793124
|
0.00012
|
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=)
|
rs200664704
|
0.00012
|
NM_032444.4(SLX4):c.2235C>T (p.Thr745=)
|
rs75184268
|
0.00012
|
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)
|
rs143451067
|
0.00011
|
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)
|
rs575108446
|
0.00011
|
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
|
rs151038616
|
0.00011
|
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=)
|
rs199681302
|
0.00011
|
NM_001278689.2(EOGT):c.816C>T (p.Ile272=)
|
rs554241529
|
0.00011
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
0.00011
|
NM_001429.4(EP300):c.3502-13G>A
|
rs547213630
|
0.00011
|
NM_001429.4(EP300):c.376A>G (p.Met126Val)
|
rs200635644
|
0.00011
|
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)
|
rs142758675
|
0.00011
|
NM_001429.4(EP300):c.5461C>A (p.Arg1821=)
|
rs780579609
|
0.00011
|
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)
|
rs138389072
|
0.00011
|
NM_001999.4(FBN2):c.1850-14A>G
|
rs201359451
|
0.00011
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val)
|
rs141854054
|
0.00011
|
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys)
|
rs375316758
|
0.00011
|
NM_003334.4(UBA1):c.812-4G>A
|
rs372842152
|
0.00011
|
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=)
|
rs201161108
|
0.00011
|
NM_005236.3(ERCC4):c.793-13A>T
|
rs201159142
|
0.00011
|
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)
|
rs763988265
|
0.00011
|
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser)
|
rs369467132
|
0.00011
|
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met)
|
rs146604877
|
0.00011
|
NM_032444.4(SLX4):c.1925-13A>T
|
rs201324113
|
0.00011
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
NM_153717.3(EVC):c.2298C>T (p.Asp766=)
|
rs140546984
|
0.00011
|
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_173660.5(DOK7):c.189C>T (p.Cys63=)
|
rs372989037
|
0.00011
|
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)
|
rs140363445
|
0.00010
|
NM_001018113.3(FANCB):c.504C>G (p.Ser168=)
|
rs373738816
|
0.00010
|
NM_001374353.1(GLI2):c.1260C>T (p.Thr420=)
|
rs200497671
|
0.00010
|
NM_001429.4(EP300):c.2925A>G (p.Glu975=)
|
rs75752076
|
0.00010
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp)
|
rs375093230
|
0.00010
|
NM_001999.4(FBN2):c.2856G>T (p.Thr952=)
|
rs556038110
|
0.00010
|
NM_001999.4(FBN2):c.3217+13G>A
|
rs572013507
|
0.00010
|
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)
|
rs145588052
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)
|
rs557212203
|
0.00010
|
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
NM_003334.4(UBA1):c.1482C>T (p.Cys494=)
|
rs782484295
|
0.00010
|
NM_003334.4(UBA1):c.2003+12G>A
|
rs373695438
|
0.00010
|
NM_003334.4(UBA1):c.388G>C (p.Val130Leu)
|
rs782523969
|
0.00010
|
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)
|
rs190121951
|
0.00010
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)
|
rs200495793
|
0.00010
|
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)
|
rs765844768
|
0.00010
|
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)
|
rs201779159
|
0.00010
|
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)
|
rs200521815
|
0.00010
|
NM_023110.3(FGFR1):c.75G>A (p.Pro25=)
|
rs17175757
|
0.00010
|
NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=)
|
rs201036501
|
0.00010
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)
|
rs145552439
|
0.00009
|
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)
|
rs55758861
|
0.00009
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
NM_000474.4(TWIST1):c.330G>A (p.Arg110=)
|
rs199932465
|
0.00009
|
NM_000751.3(CHRND):c.525G>A (p.Thr175=)
|
rs56203086
|
0.00009
|
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=)
|
rs375943387
|
0.00009
|
NM_001374353.1(GLI2):c.321G>A (p.Pro107=)
|
rs578011257
|
0.00009
|
NM_001429.4(EP300):c.1443G>A (p.Pro481=)
|
rs374768898
|
0.00009
|
NM_001429.4(EP300):c.3162A>G (p.Leu1054=)
|
rs139758629
|
0.00009
|
NM_001429.4(EP300):c.5598G>A (p.Pro1866=)
|
rs560633624
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_002334.4(LRP4):c.2092+17C>T
|
rs200761003
|
0.00009
|
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)
|
rs200629777
|
0.00009
|
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)
|
rs185589110
|
0.00009
|
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)
|
rs369930675
|
0.00009
|
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=)
|
rs377023934
|
0.00009
|
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=)
|
rs772392148
|
0.00009
|
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684
|
0.00009
|
NM_004629.2(FANCG):c.375C>G (p.Val125=)
|
rs199754122
|
0.00009
|
NM_004629.2(FANCG):c.646+15T>C
|
rs551775705
|
0.00009
|
NM_004629.2(FANCG):c.647-16C>A
|
rs200107462
|
0.00009
|
NM_005445.4(SMC3):c.1581T>C (p.His527=)
|
rs182445355
|
0.00009
|
NM_005592.4(MUSK):c.2532A>G (p.Ala844=)
|
rs193214210
|
0.00009
|
NM_005592.4(MUSK):c.312T>C (p.Gly104=)
|
rs56181115
|
0.00009
|
NM_006147.4(IRF6):c.9C>T (p.Leu3=)
|
rs78599614
|
0.00009
|
NM_014918.5(CHSY1):c.320+6C>T
|
rs553473414
|
0.00009
|
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)
|
rs367710569
|
0.00009
|
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=)
|
rs78857347
|
0.00009
|
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)
|
rs774068657
|
0.00009
|
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)
|
rs375065108
|
0.00009
|
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=)
|
rs751646144
|
0.00009
|
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg)
|
rs147689487
|
0.00009
|
NM_021922.3(FANCE):c.1317-11C>T
|
rs147572271
|
0.00009
|
NM_023110.3(FGFR1):c.375G>A (p.Ser125=)
|
rs17182296
|
0.00009
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
NM_173660.5(DOK7):c.1290G>A (p.Ala430=)
|
rs538047872
|
0.00009
|
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)
|
rs189442556
|
0.00008
|
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)
|
rs200093209
|
0.00008
|
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)
|
rs771007866
|
0.00008
|
NM_001018113.3(FANCB):c.330A>C (p.Leu110=)
|
rs201633684
|
0.00008
|
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
|
rs142289802
|
0.00008
|
NM_001271938.2(MEGF8):c.2919C>T (p.His973=)
|
rs766105588
|
0.00008
|
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile)
|
rs77422116
|
0.00008
|
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)
|
rs200499648
|
0.00008
|
NM_001429.4(EP300):c.45G>A (p.Arg15=)
|
rs752119517
|
0.00008
|
NM_001429.4(EP300):c.6729C>T (p.Gly2243=)
|
rs765194008
|
0.00008
|
NM_001429.4(EP300):c.752A>G (p.Asn251Ser)
|
rs142009367
|
0.00008
|
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)
|
rs199678757
|
0.00008
|
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)
|
rs373305404
|
0.00008
|
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)
|
rs371005753
|
0.00008
|
NM_003334.4(UBA1):c.679-16C>T
|
rs200690232
|
0.00008
|
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)
|
rs374186605
|
0.00008
|
NM_006265.3(RAD21):c.582G>A (p.Glu194=)
|
rs201468757
|
0.00008
|
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=)
|
rs782123095
|
0.00008
|
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=)
|
rs746002433
|
0.00008
|
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=)
|
rs144066379
|
0.00008
|
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)
|
rs374352922
|
0.00008
|
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=)
|
rs773981674
|
0.00008
|
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=)
|
rs201499253
|
0.00008
|
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)
|
rs199777870
|
0.00008
|
NM_020937.4(FANCM):c.4222+18dup
|
rs760075544
|
0.00008
|
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)
|
rs746123129
|
0.00008
|
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=)
|
rs552562422
|
0.00008
|
NM_032444.4(SLX4):c.630A>G (p.Leu210=)
|
rs746155183
|
0.00008
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)
|
rs374093236
|
0.00007
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
NM_000751.3(CHRND):c.620-8G>A
|
rs377074477
|
0.00007
|
NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=)
|
rs773098021
|
0.00007
|
NM_001999.4(FBN2):c.2096-19G>A
|
rs369377429
|
0.00007
|
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)
|
rs150735582
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)
|
rs147134796
|
0.00007
|
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu)
|
rs781842141
|
0.00007
|
NM_003334.4(UBA1):c.253G>A (p.Val85Met)
|
rs782796398
|
0.00007
|
NM_003334.4(UBA1):c.720C>T (p.His240=)
|
rs193168226
|
0.00007
|
NM_005105.5(RBM8A):c.128-9C>T
|
rs185927426
|
0.00007
|
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp)
|
rs558259191
|
0.00007
|
NM_006306.4(SMC1A):c.1911+12C>G
|
rs200324148
|
0.00007
|
NM_006306.4(SMC1A):c.2562+17T>G
|
rs782781158
|
0.00007
|
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=)
|
rs782574044
|
0.00007
|
NM_006306.4(SMC1A):c.3438-18C>T
|
rs781873202
|
0.00007
|
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)
|
rs560030759
|
0.00007
|
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln)
|
rs587778558
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)
|
rs371303106
|
0.00007
|
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
|
rs543770603
|
0.00007
|
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr)
|
rs566680728
|
0.00007
|
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)
|
rs780873661
|
0.00007
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
NM_018486.3(HDAC8):c.169G>A (p.Val57Ile)
|
rs200737947
|
0.00007
|
NM_020436.5(SALL4):c.696C>T (p.Thr232=)
|
rs376488018
|
0.00007
|
NM_023110.3(FGFR1):c.359-13C>G
|
rs376369060
|
0.00007
|
NM_032444.4(SLX4):c.2034T>G (p.Val678=)
|
rs200278096
|
0.00007
|
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=)
|
rs3810814
|
0.00007
|
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)
|
rs56267906
|
0.00006
|
NM_000135.4(FANCA):c.3066+16C>T
|
rs199529426
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile)
|
rs567130034
|
0.00006
|
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=)
|
rs777812135
|
0.00006
|
NM_001113378.2(FANCI):c.288+10C>T
|
rs370505986
|
0.00006
|
NM_001374353.1(GLI2):c.315G>A (p.Pro105=)
|
rs139473153
|
0.00006
|
NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly)
|
rs370136073
|
0.00006
|
NM_001429.4(EP300):c.1540A>G (p.Met514Val)
|
rs765266179
|
0.00006
|
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu)
|
rs749702423
|
0.00006
|
NM_001429.4(EP300):c.3750C>T (p.Cys1250=)
|
rs747187417
|
0.00006
|
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly)
|
rs769796204
|
0.00006
|
NM_001429.4(EP300):c.7114A>G (p.Met2372Val)
|
rs768061933
|
0.00006
|
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)
|
rs138046782
|
0.00006
|
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu)
|
rs182651973
|
0.00006
|
NM_001999.4(FBN2):c.1682A>G (p.His561Arg)
|
rs28763951
|
0.00006
|
NM_001999.4(FBN2):c.2978G>A (p.Arg993His)
|
rs774483323
|
0.00006
|
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=)
|
rs185809581
|
0.00006
|
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=)
|
rs374456115
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)
|
rs150734807
|
0.00006
|
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)
|
rs139098335
|
0.00006
|
NM_003334.4(UBA1):c.351C>T (p.Tyr117=)
|
rs782799228
|
0.00006
|
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)
|
rs375462934
|
0.00006
|
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=)
|
rs539366777
|
0.00006
|
NM_005055.5(RAPSN):c.690+10C>T
|
rs78293924
|
0.00006
|
NM_005236.3(ERCC4):c.389-5C>T
|
rs377224276
|
0.00006
|
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=)
|
rs782008528
|
0.00006
|
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)
|
rs752071569
|
0.00006
|
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)
|
rs780710009
|
0.00006
|
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile)
|
rs776698364
|
0.00006
|
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)
|
rs377351349
|
0.00006
|
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)
|
rs377594681
|
0.00006
|
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)
|
rs372660483
|
0.00006
|
NM_017617.5(NOTCH1):c.4756C>T (p.Arg1586Cys)
|
rs1418474023
|
0.00006
|
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)
|
rs199652954
|
0.00006
|
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)
|
rs761839390
|
0.00006
|
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln)
|
rs753752321
|
0.00006
|
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)
|
rs536167222
|
0.00006
|
NM_020436.5(SALL4):c.2028C>T (p.Asn676=)
|
rs755057820
|
0.00006
|
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)
|
rs577253174
|
0.00006
|
NM_023110.3(FGFR1):c.1285-15C>T
|
rs760069564
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_130468.4(CHST14):c.567G>A (p.Val189=)
|
rs758319940
|
0.00006
|
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)
|
rs376448686
|
0.00006
|
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)
|
rs199967286
|
0.00005
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
NM_001018113.3(FANCB):c.2165+10A>T
|
rs184385334
|
0.00005
|
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)
|
rs201408009
|
0.00005
|
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
|
rs376956791
|
0.00005
|
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=)
|
rs746659886
|
0.00005
|
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=)
|
rs200526872
|
0.00005
|
NM_001374353.1(GLI2):c.1383G>A (p.Thr461=)
|
rs768606373
|
0.00005
|
NM_001374353.1(GLI2):c.1947C>T (p.Ser649=)
|
rs528985094
|
0.00005
|
NM_001429.4(EP300):c.4503G>A (p.Leu1501=)
|
rs368320273
|
0.00005
|
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu)
|
rs139189178
|
0.00005
|
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)
|
rs768073096
|
0.00005
|
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=)
|
rs769005512
|
0.00005
|
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=)
|
rs150627604
|
0.00005
|
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=)
|
rs770778839
|
0.00005
|
NM_003334.4(UBA1):c.1197C>T (p.Ala399=)
|
rs782593880
|
0.00005
|
NM_003334.4(UBA1):c.1543C>A (p.Arg515=)
|
rs150198324
|
0.00005
|
NM_003334.4(UBA1):c.1791G>A (p.Glu597=)
|
rs372366129
|
0.00005
|
NM_003334.4(UBA1):c.2839-7C>T
|
rs199797125
|
0.00005
|
NM_003334.4(UBA1):c.678+18A>T
|
rs782509809
|
0.00005
|
NM_003334.4(UBA1):c.798G>A (p.Glu266=)
|
rs202041421
|
0.00005
|
NM_004380.3(CREBBP):c.177T>A (p.Leu59=)
|
rs201027381
|
0.00005
|
NM_004380.3(CREBBP):c.3060+10G>A
|
rs398124143
|
0.00005
|
NM_004380.3(CREBBP):c.414C>T (p.Ala138=)
|
rs542552676
|
0.00005
|
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=)
|
rs374150949
|
0.00005
|
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)
|
rs190548363
|
0.00005
|
NM_006306.4(SMC1A):c.756C>T (p.Asp252=)
|
rs370671274
|
0.00005
|
NM_006306.4(SMC1A):c.825G>A (p.Arg275=)
|
rs150488530
|
0.00005
|
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)
|
rs746796894
|
0.00005
|
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)
|
rs1472690723
|
0.00005
|
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)
|
rs369259434
|
0.00005
|
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)
|
rs764921648
|
0.00005
|
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
|
rs201053795
|
0.00005
|
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
|
rs548083258
|
0.00005
|
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys)
|
rs371868900
|
0.00005
|
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val)
|
rs752951296
|
0.00005
|
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=)
|
rs762733162
|
0.00005
|
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)
|
rs755124691
|
0.00005
|
NM_017617.5(NOTCH1):c.4981C>T (p.Arg1661Trp)
|
rs998433493
|
0.00005
|
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=)
|
rs766444406
|
0.00005
|
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)
|
rs368396893
|
0.00005
|
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)
|
rs773134608
|
0.00005
|
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu)
|
rs560981171
|
0.00005
|
NM_018486.3(HDAC8):c.639C>T (p.Asp213=)
|
rs142540077
|
0.00005
|
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala)
|
rs587783890
|
0.00005
|
NM_147127.5(EVC2):c.209G>T (p.Gly70Val)
|
rs754380041
|
0.00005
|
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)
|
rs140785340
|
0.00004
|
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=)
|
rs553086820
|
0.00004
|
NM_000751.3(CHRND):c.1252+10C>T
|
rs373581541
|
0.00004
|
NM_000751.3(CHRND):c.611G>T (p.Gly204Val)
|
rs531000772
|
0.00004
|
NM_001018113.3(FANCB):c.2394C>T (p.Val798=)
|
rs190579053
|
0.00004
|
NM_001018113.3(FANCB):c.513G>A (p.Gln171=)
|
rs763353362
|
0.00004
|
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)
|
rs185771112
|
0.00004
|
NM_001374353.1(GLI2):c.546C>T (p.Leu182=)
|
rs200028917
|
0.00004
|
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser)
|
rs564786569
|
0.00004
|
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn)
|
rs141403873
|
0.00004
|
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
|
rs749979249
|
0.00004
|
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)
|
rs562268545
|
0.00004
|
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu)
|
rs751545674
|
0.00004
|
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser)
|
rs779849582
|
0.00004
|
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys)
|
rs776031352
|
0.00004
|
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)
|
rs771467729
|
0.00004
|
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)
|
rs140812463
|
0.00004
|
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)
|
rs888075207
|
0.00004
|
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp)
|
rs537628586
|
0.00004
|
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)
|
rs752138290
|
0.00004
|
NM_003334.4(UBA1):c.1610G>A (p.Arg537His)
|
rs372418523
|
0.00004
|
NM_003334.4(UBA1):c.177-11del
|
rs781797300
|
0.00004
|
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)
|
rs782085921
|
0.00004
|
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)
|
rs781864389
|
0.00004
|
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu)
|
rs143180774
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)
|
rs754429038
|
0.00004
|
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)
|
rs758386187
|
0.00004
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=)
|
rs199610814
|
0.00004
|
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)
|
rs200677800
|
0.00004
|
NM_005592.4(MUSK):c.207-5T>C
|
rs779359576
|
0.00004
|
NM_005592.4(MUSK):c.2283C>T (p.Asn761=)
|
rs777419932
|
0.00004
|
NM_005592.4(MUSK):c.2286C>T (p.Asp762=)
|
rs199832657
|
0.00004
|
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=)
|
rs142531536
|
0.00004
|
NM_006306.4(SMC1A):c.3438-3C>T
|
rs782161734
|
0.00004
|
NM_006306.4(SMC1A):c.854+17G>A
|
rs781860125
|
0.00004
|
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=)
|
rs192677621
|
0.00004
|
NM_016277.5(RAB23):c.534T>C (p.Ala178=)
|
rs201820320
|
0.00004
|
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn)
|
rs770729642
|
0.00004
|
NM_017617.5(NOTCH1):c.1206G>A (p.Ser402=)
|
rs746848165
|
0.00004
|
NM_017617.5(NOTCH1):c.1376A>G (p.Asn459Ser)
|
rs574143345
|
0.00004
|
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn)
|
rs367873715
|
0.00004
|
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)
|
rs376726823
|
0.00004
|
NM_017617.5(NOTCH1):c.1904-10A>G
|
rs200896186
|
0.00004
|
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)
|
rs780810308
|
0.00004
|
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)
|
rs199505287
|
0.00004
|
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln)
|
rs756087913
|
0.00004
|
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)
|
rs767963898
|
0.00004
|
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)
|
rs200871631
|
0.00004
|
NM_017617.5(NOTCH1):c.3483G>A (p.Thr1161=)
|
rs369392246
|
0.00004
|
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp)
|
rs761304479
|
0.00004
|
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His)
|
rs368400902
|
0.00004
|
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)
|
rs751874720
|
0.00004
|
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His)
|
rs1180096756
|
0.00004
|
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys)
|
rs587778569
|
0.00004
|
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser)
|
rs776133530
|
0.00004
|
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val)
|
rs777962754
|
0.00004
|
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met)
|
rs35652719
|
0.00004
|
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)
|
rs555773558
|
0.00004
|
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)
|
rs201625763
|
0.00004
|
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His)
|
rs756874994
|
0.00004
|
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)
|
rs770713134
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser)
|
rs61751491
|
0.00004
|
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)
|
rs763902589
|
0.00004
|
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile)
|
rs1052013977
|
0.00004
|
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=)
|
rs759443061
|
0.00004
|
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=)
|
rs61751556
|
0.00004
|
NM_018062.4(FANCL):c.375-15T>C
|
rs767038810
|
0.00004
|
NM_018062.4(FANCL):c.739A>G (p.Met247Val)
|
rs561027973
|
0.00004
|
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
|
rs139801716
|
0.00004
|
NM_018486.3(HDAC8):c.522C>T (p.Tyr174=)
|
rs146015223
|
0.00004
|
NM_021922.3(FANCE):c.1509C>T (p.Asn503=)
|
rs147166240
|
0.00004
|
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=)
|
rs56273573
|
0.00004
|
NM_023110.3(FGFR1):c.449-8C>A
|
rs551551806
|
0.00004
|
NM_023110.3(FGFR1):c.92-14C>T
|
rs547772178
|
0.00004
|
NM_032043.3(BRIP1):c.1935+7T>C
|
rs201024366
|
0.00004
|
NM_032444.4(SLX4):c.489T>G (p.Gly163=)
|
rs201211891
|
0.00004
|
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
|
rs560381786
|
0.00004
|
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln)
|
rs373305585
|
0.00004
|
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)
|
rs150837768
|
0.00004
|
NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys)
|
rs149451089
|
0.00004
|
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu)
|
rs199708349
|
0.00004
|
NM_147127.5(EVC2):c.1146-5C>G
|
rs746188195
|
0.00004
|
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=)
|
rs372719753
|
0.00004
|
NM_153717.3(EVC):c.1269G>A (p.Thr423=)
|
rs551881521
|
0.00004
|
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=)
|
rs753355273
|
0.00003
|
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala)
|
rs184796918
|
0.00003
|
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys)
|
rs780116069
|
0.00003
|
NM_001429.4(EP300):c.1302C>T (p.Pro434=)
|
rs199901345
|
0.00003
|
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn)
|
rs781326261
|
0.00003
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
NM_001429.4(EP300):c.2744G>A (p.Arg915His)
|
rs748820220
|
0.00003
|
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val)
|
rs587778258
|
0.00003
|
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile)
|
rs558456063
|
0.00003
|
NM_001429.4(EP300):c.923C>T (p.Pro308Leu)
|
rs587778261
|
0.00003
|
NM_001429.4(EP300):c.952C>G (p.Pro318Ala)
|
rs762647727
|
0.00003
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val)
|
rs56312356
|
0.00003
|
NM_001999.4(FBN2):c.2249-12T>C
|
rs776314725
|
0.00003
|
NM_001999.4(FBN2):c.2258A>G (p.His753Arg)
|
rs777266350
|
0.00003
|
NM_001999.4(FBN2):c.244G>A (p.Val82Met)
|
rs550387143
|
0.00003
|
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp)
|
rs142249689
|
0.00003
|
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)
|
rs528529593
|
0.00003
|
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=)
|
rs192602314
|
0.00003
|
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)
|
rs1476723489
|
0.00003
|
NM_001999.4(FBN2):c.5353+11G>A
|
rs572393472
|
0.00003
|
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=)
|
rs753556200
|
0.00003
|
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)
|
rs189964478
|
0.00003
|
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)
|
rs995323393
|
0.00003
|
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys)
|
rs1450302477
|
0.00003
|
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)
|
rs146941428
|
0.00003
|
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala)
|
rs752627315
|
0.00003
|
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
|
rs371715068
|
0.00003
|
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)
|
rs765693576
|
0.00003
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
NM_002968.3(SALL1):c.39A>G (p.Gln13=)
|
rs768989589
|
0.00003
|
NM_003334.4(UBA1):c.1152G>A (p.Arg384=)
|
rs782140095
|
0.00003
|
NM_003334.4(UBA1):c.2004-12G>A
|
rs201583168
|
0.00003
|
NM_003334.4(UBA1):c.2275-7C>T
|
rs782291288
|
0.00003
|
NM_003334.4(UBA1):c.2661A>G (p.Ala887=)
|
rs782783941
|
0.00003
|
NM_003334.4(UBA1):c.2913C>T (p.Thr971=)
|
rs782810108
|
0.00003
|
NM_003334.4(UBA1):c.2982G>T (p.Val994=)
|
rs782156608
|
0.00003
|
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)
|
rs782084400
|
0.00003
|
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)
|
rs200206019
|
0.00003
|
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=)
|
rs138353979
|
0.00003
|
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu)
|
rs766086544
|
0.00003
|
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser)
|
rs779479811
|
0.00003
|
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)
|
rs776549587
|
0.00003
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)
|
rs745551441
|
0.00003
|
NM_006147.4(IRF6):c.351T>G (p.Pro117=)
|
rs550521875
|
0.00003
|
NM_006265.3(RAD21):c.1237T>C (p.Leu413=)
|
rs201779352
|
0.00003
|
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=)
|
rs782547781
|
0.00003
|
NM_006306.4(SMC1A):c.2058+9C>G
|
rs1356800269
|
0.00003
|
NM_006306.4(SMC1A):c.2973+16_2973+17del
|
rs782659050
|
0.00003
|
NM_006306.4(SMC1A):c.412-14T>G
|
rs782106342
|
0.00003
|
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)
|
rs928512979
|
0.00003
|
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)
|
rs749085650
|
0.00003
|
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
|
rs757066417
|
0.00003
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser)
|
rs769696527
|
0.00003
|
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro)
|
rs752513330
|
0.00003
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys)
|
rs746213819
|
0.00003
|
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=)
|
rs544653892
|
0.00003
|
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
|
rs1379596542
|
0.00003
|
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp)
|
rs587778563
|
0.00003
|
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn)
|
rs763217096
|
0.00003
|
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His)
|
rs758471372
|
0.00003
|
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)
|
rs777684045
|
0.00003
|
NM_017617.5(NOTCH1):c.362C>T (p.Thr121Met)
|
rs529738206
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)
|
rs769493139
|
0.00003
|
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)
|
rs200232299
|
0.00003
|
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val)
|
rs376799353
|
0.00003
|
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr)
|
rs976118697
|
0.00003
|
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)
|
rs745901158
|
0.00003
|
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp)
|
rs575513935
|
0.00003
|
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)
|
rs571739078
|
0.00003
|
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr)
|
rs375102032
|
0.00003
|
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=)
|
rs61751534
|
0.00003
|
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=)
|
rs762092431
|
0.00003
|
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)
|
rs544856644
|
0.00003
|
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser)
|
rs759344174
|
0.00003
|
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)
|
rs748138179
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_017617.5(NOTCH1):c.6665C>T (p.Pro2222Leu)
|
rs779125725
|
0.00003
|
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys)
|
rs1163673587
|
0.00003
|
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)
|
rs373119531
|
0.00003
|
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu)
|
rs370652630
|
0.00003
|
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)
|
rs370722609
|
0.00003
|
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met)
|
rs574436740
|
0.00003
|
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr)
|
rs779039862
|
0.00003
|
NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His)
|
rs754570072
|
0.00003
|
NM_018062.4(FANCL):c.375-13C>T
|
rs761490451
|
0.00003
|
NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn)
|
rs373083907
|
0.00003
|
NM_018486.3(HDAC8):c.372A>G (p.Gln124=)
|
rs141306915
|
0.00003
|
NM_018486.3(HDAC8):c.984C>T (p.Ser328=)
|
rs782234700
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)
|
rs200991784
|
0.00003
|
NM_153717.3(EVC):c.771A>G (p.Leu257=)
|
rs756340487
|
0.00003
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val)
|
rs368679125
|
0.00002
|
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=)
|
rs759020755
|
0.00002
|
NM_001018113.3(FANCB):c.552G>A (p.Leu184=)
|
rs771998496
|
0.00002
|
NM_001374353.1(GLI2):c.2243-4G>A
|
rs568001894
|
0.00002
|
NM_001429.4(EP300):c.2334A>G (p.Thr778=)
|
rs374281264
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_001999.4(FBN2):c.1973-20T>C
|
rs774598343
|
0.00002
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
0.00002
|
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly)
|
rs764809572
|
0.00002
|
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)
|
rs150224718
|
0.00002
|
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser)
|
rs1016100479
|
0.00002
|
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly)
|
rs763160605
|
0.00002
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
0.00002
|
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)
|
rs886038992
|
0.00002
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)
|
rs753753954
|
0.00002
|
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln)
|
rs1261345480
|
0.00002
|
NM_003334.4(UBA1):c.1173T>C (p.Ala391=)
|
rs781783732
|
0.00002
|
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg)
|
rs888369922
|
0.00002
|
NM_003334.4(UBA1):c.1485G>A (p.Gly495=)
|
rs782721809
|
0.00002
|
NM_003334.4(UBA1):c.1818T>C (p.Asn606=)
|
rs782565505
|
0.00002
|
NM_003334.4(UBA1):c.210C>T (p.Leu70=)
|
rs191969626
|
0.00002
|
NM_003334.4(UBA1):c.2460T>C (p.Ser820=)
|
rs782208544
|
0.00002
|
NM_003334.4(UBA1):c.2724G>A (p.Glu908=)
|
rs376593996
|
0.00002
|
NM_003334.4(UBA1):c.2928C>T (p.Leu976=)
|
rs782070102
|
0.00002
|
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu)
|
rs1185350232
|
0.00002
|
NM_003334.4(UBA1):c.486G>A (p.Val162=)
|
rs370643219
|
0.00002
|
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)
|
rs587783474
|
0.00002
|
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)
|
rs762638591
|
0.00002
|
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met)
|
rs1064793090
|
0.00002
|
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val)
|
rs190153828
|
0.00002
|
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu)
|
rs370094071
|
0.00002
|
NM_006265.3(RAD21):c.145-4A>G
|
rs752213732
|
0.00002
|
NM_006306.4(SMC1A):c.174A>G (p.Val58=)
|
rs200428075
|
0.00002
|
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser)
|
rs782012594
|
0.00002
|
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=)
|
rs777575093
|
0.00002
|
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=)
|
rs553606088
|
0.00002
|
NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser)
|
rs752255207
|
0.00002
|
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)
|
rs757631575
|
0.00002
|
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=)
|
rs775219296
|
0.00002
|
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=)
|
rs755070916
|
0.00002
|
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser)
|
rs373556820
|
0.00002
|
NM_017617.5(NOTCH1):c.2207+7G>A
|
rs138935812
|
0.00002
|
NM_017617.5(NOTCH1):c.226G>A (p.Val76Met)
|
rs532574807
|
0.00002
|
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg)
|
rs747529236
|
0.00002
|
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met)
|
rs772945824
|
0.00002
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met)
|
rs369730402
|
0.00002
|
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys)
|
rs1399392600
|
0.00002
|
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)
|
rs773926521
|
0.00002
|
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His)
|
rs781658171
|
0.00002
|
NM_017617.5(NOTCH1):c.3748G>A (p.Gly1250Ser)
|
rs771192471
|
0.00002
|
NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu)
|
rs200245794
|
0.00002
|
NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr)
|
rs1290588213
|
0.00002
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe)
|
rs765839822
|
0.00002
|
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)
|
rs886038974
|
0.00002
|
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)
|
rs552065719
|
0.00002
|
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=)
|
rs781386640
|
0.00002
|
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)
|
rs569203312
|
0.00002
|
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=)
|
rs777125560
|
0.00002
|
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu)
|
rs970443298
|
0.00002
|
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His)
|
rs777423973
|
0.00002
|
NM_017617.5(NOTCH1):c.5935-11C>T
|
rs768074148
|
0.00002
|
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=)
|
rs531156367
|
0.00002
|
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)
|
rs759749364
|
0.00002
|
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu)
|
rs767587816
|
0.00002
|
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=)
|
rs974424401
|
0.00002
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=)
|
rs1032110986
|
0.00002
|
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)
|
rs752802795
|
0.00002
|
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)
|
rs763187824
|
0.00002
|
NM_018486.3(HDAC8):c.1047G>A (p.Thr349=)
|
rs782747900
|
0.00002
|
NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln)
|
rs781862582
|
0.00002
|
NM_018486.3(HDAC8):c.111+20A>C
|
rs782224300
|
0.00002
|
NM_018486.3(HDAC8):c.1111+16C>T
|
rs1039038766
|
0.00002
|
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)
|
rs200093133
|
0.00002
|
NM_018486.3(HDAC8):c.516T>A (p.Ile172=)
|
rs61752447
|
0.00002
|
NM_023110.3(FGFR1):c.448+20C>T
|
rs767029419
|
0.00002
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_000135.4(FANCA):c.1007-17T>C
|
rs760059831
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
NM_000135.4(FANCA):c.3513+13T>C
|
rs560352340
|
0.00001
|
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)
|
rs372706571
|
0.00001
|
NM_001018113.3(FANCB):c.111T>C (p.Pro37=)
|
rs1172968993
|
0.00001
|
NM_001018113.3(FANCB):c.1149A>G (p.Lys383=)
|
rs751649474
|
0.00001
|
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met)
|
rs772802668
|
0.00001
|
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly)
|
rs750381270
|
0.00001
|
NM_001018113.3(FANCB):c.2391C>T (p.Val797=)
|
rs778731279
|
0.00001
|
NM_001018113.3(FANCB):c.897C>T (p.Phe299=)
|
rs753443421
|
0.00001
|
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=)
|
rs574054963
|
0.00001
|
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=)
|
rs540512909
|
0.00001
|
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=)
|
rs369967292
|
0.00001
|
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=)
|
rs527394057
|
0.00001
|
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)
|
rs572826436
|
0.00001
|
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile)
|
rs200999705
|
0.00001
|
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val)
|
rs577126364
|
0.00001
|
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)
|
rs377368037
|
0.00001
|
NM_001429.4(EP300):c.2005A>G (p.Met669Val)
|
rs749541256
|
0.00001
|
NM_001429.4(EP300):c.206G>A (p.Gly69Asp)
|
rs370355846
|
0.00001
|
NM_001429.4(EP300):c.271C>T (p.Pro91Ser)
|
rs138538553
|
0.00001
|
NM_001429.4(EP300):c.2997+12G>A
|
rs372770495
|
0.00001
|
NM_001429.4(EP300):c.469C>A (p.Pro157Thr)
|
rs748538778
|
0.00001
|
NM_001429.4(EP300):c.471A>G (p.Pro157=)
|
rs770598337
|
0.00001
|
NM_001429.4(EP300):c.5709C>T (p.Gly1903=)
|
rs200728751
|
0.00001
|
NM_001429.4(EP300):c.6352A>G (p.Met2118Val)
|
rs755381839
|
0.00001
|
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser)
|
rs201369756
|
0.00001
|
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu)
|
rs587778259
|
0.00001
|
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)
|
rs750949734
|
0.00001
|
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser)
|
rs1173562709
|
0.00001
|
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu)
|
rs376096770
|
0.00001
|
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln)
|
rs1194684025
|
0.00001
|
NM_001999.4(FBN2):c.1812C>T (p.Ala604=)
|
rs745811885
|
0.00001
|
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
|
rs548605398
|
0.00001
|
NM_001999.4(FBN2):c.2271T>C (p.Ser757=)
|
rs1338036259
|
0.00001
|
NM_001999.4(FBN2):c.2375G>A (p.Arg792His)
|
rs374031658
|
0.00001
|
NM_001999.4(FBN2):c.2429-11G>A
|
rs201849584
|
0.00001
|
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met)
|
rs766590294
|
0.00001
|
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile)
|
rs773235785
|
0.00001
|
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)
|
rs139118782
|
0.00001
|
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=)
|
rs761867143
|
0.00001
|
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys)
|
rs755737169
|
0.00001
|
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala)
|
rs768722316
|
0.00001
|
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val)
|
rs768753485
|
0.00001
|
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)
|
rs546172367
|
0.00001
|
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=)
|
rs371629482
|
0.00001
|
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)
|
rs187786356
|
0.00001
|
NM_001999.4(FBN2):c.477T>C (p.Cys159=)
|
rs138601900
|
0.00001
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe)
|
rs201321678
|
0.00001
|
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)
|
rs757216544
|
0.00001
|
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)
|
rs766808076
|
0.00001
|
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=)
|
rs754211806
|
0.00001
|
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=)
|
rs28763928
|
0.00001
|
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn)
|
rs758124873
|
0.00001
|
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg)
|
rs764759689
|
0.00001
|
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=)
|
rs776227906
|
0.00001
|
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)
|
rs747507457
|
0.00001
|
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)
|
rs576501460
|
0.00001
|
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)
|
rs373370945
|
0.00001
|
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)
|
rs763408652
|
0.00001
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu)
|
rs776788539
|
0.00001
|
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)
|
rs529742815
|
0.00001
|
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)
|
rs772841538
|
0.00001
|
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=)
|
rs368712261
|
0.00001
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)
|
rs888064842
|
0.00001
|
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
|
rs768293070
|
0.00001
|
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)
|
rs771712321
|
0.00001
|
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)
|
rs143481229
|
0.00001
|
NM_002968.3(SALL1):c.537C>T (p.Leu179=)
|
rs200539812
|
0.00001
|
NM_003289.4(TPM2):c.563+18T>A
|
rs370352040
|
0.00001
|
NM_003334.4(UBA1):c.117+16G>A
|
rs375750779
|
0.00001
|
NM_003334.4(UBA1):c.1339-9A>G
|
rs782104383
|
0.00001
|
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys)
|
rs570568650
|
0.00001
|
NM_003334.4(UBA1):c.2053T>C (p.Leu685=)
|
rs781839671
|
0.00001
|
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)
|
rs782425809
|
0.00001
|
NM_003334.4(UBA1):c.2118C>T (p.Cys706=)
|
rs782597501
|
0.00001
|
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser)
|
rs781800261
|
0.00001
|
NM_003334.4(UBA1):c.2742G>C (p.Gln914His)
|
rs1487402125
|
0.00001
|
NM_003334.4(UBA1):c.2941-14C>T
|
rs782755186
|
0.00001
|
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn)
|
rs746902106
|
0.00001
|
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)
|
rs558051943
|
0.00001
|
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)
|
rs563033919
|
0.00001
|
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)
|
rs756979739
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)
|
rs557611780
|
0.00001
|
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)
|
rs138613594
|
0.00001
|
NM_005445.4(SMC3):c.1671-4T>C
|
rs201392611
|
0.00001
|
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=)
|
rs189703529
|
0.00001
|
NM_005592.4(MUSK):c.2085A>C (p.Pro695=)
|
rs772759899
|
0.00001
|
NM_006306.4(SMC1A):c.3285+4G>A
|
rs1459975526
|
0.00001
|
NM_006306.4(SMC1A):c.3619-14C>T
|
rs782732704
|
0.00001
|
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu)
|
rs782063495
|
0.00001
|
NM_006306.4(SMC1A):c.411+6C>T
|
rs782515915
|
0.00001
|
NM_006306.4(SMC1A):c.816A>G (p.Lys272=)
|
rs782455775
|
0.00001
|
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=)
|
rs745545998
|
0.00001
|
NM_013352.4(DSE):c.2334G>T (p.Leu778=)
|
rs534248134
|
0.00001
|
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
|
rs201735614
|
0.00001
|
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)
|
rs779061035
|
0.00001
|
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=)
|
rs202235419
|
0.00001
|
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)
|
rs1037236860
|
0.00001
|
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met)
|
rs370746889
|
0.00001
|
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
|
rs373770404
|
0.00001
|
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=)
|
rs762533002
|
0.00001
|
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys)
|
rs1060502238
|
0.00001
|
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu)
|
rs747502723
|
0.00001
|
NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=)
|
rs754876256
|
0.00001
|
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)
|
rs757497167
|
0.00001
|
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)
|
rs763886355
|
0.00001
|
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)
|
rs544117297
|
0.00001
|
NM_017617.5(NOTCH1):c.1951G>A (p.Asp651Asn)
|
rs1182867386
|
0.00001
|
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)
|
rs1260932753
|
0.00001
|
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile)
|
rs752133245
|
0.00001
|
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn)
|
rs749761941
|
0.00001
|
NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=)
|
rs751619078
|
0.00001
|
NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=)
|
rs753710836
|
0.00001
|
NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys)
|
rs368494947
|
0.00001
|
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala)
|
rs200692749
|
0.00001
|
NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly)
|
rs760700593
|
0.00001
|
NM_017617.5(NOTCH1):c.2311A>G (p.Met771Val)
|
rs371117125
|
0.00001
|
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn)
|
rs762729988
|
0.00001
|
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)
|
rs571831870
|
0.00001
|
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met)
|
rs754775789
|
0.00001
|
NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=)
|
rs747189377
|
0.00001
|
NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu)
|
rs371050668
|
0.00001
|
NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser)
|
rs756555345
|
0.00001
|
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
|
rs767886377
|
0.00001
|
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn)
|
rs757628476
|
0.00001
|
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)
|
rs773185855
|
0.00001
|
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)
|
rs367586502
|
0.00001
|
NM_017617.5(NOTCH1):c.2876A>C (p.Asn959Thr)
|
rs1358942894
|
0.00001
|
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)
|
rs377343669
|
0.00001
|
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met)
|
rs769132985
|
0.00001
|
NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly)
|
rs1212259128
|
0.00001
|
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr)
|
rs1018501056
|
0.00001
|
NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=)
|
rs534486656
|
0.00001
|
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser)
|
rs754815022
|
0.00001
|
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
|
rs766644919
|
0.00001
|
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)
|
rs756362905
|
0.00001
|
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg)
|
rs984769025
|
0.00001
|
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile)
|
rs766198119
|
0.00001
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser)
|
rs749988739
|
0.00001
|
NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg)
|
rs576434469
|
0.00001
|
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn)
|
rs550872754
|
0.00001
|
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)
|
rs750539322
|
0.00001
|
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)
|
rs754634957
|
0.00001
|
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys)
|
rs1249540119
|
0.00001
|
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=)
|
rs775448292
|
0.00001
|
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser)
|
rs761908188
|
0.00001
|
NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His)
|
rs779086531
|
0.00001
|
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)
|
rs780500109
|
0.00001
|
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser)
|
rs763685504
|
0.00001
|
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
|
rs759828439
|
0.00001
|
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)
|
rs369915496
|
0.00001
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=)
|
rs1392196185
|
0.00001
|
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)
|
rs762492041
|
0.00001
|
NM_017617.5(NOTCH1):c.4900G>A (p.Ala1634Thr)
|
rs757260114
|
0.00001
|
NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys)
|
rs764006572
|
0.00001
|
NM_017617.5(NOTCH1):c.4984C>T (p.Arg1662Trp)
|
rs1456612268
|
0.00001
|
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala)
|
rs975429231
|
0.00001
|
NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly)
|
rs1394975333
|
0.00001
|
NM_017617.5(NOTCH1):c.5214C>T (p.Tyr1738=)
|
rs757538884
|
0.00001
|
NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val)
|
rs752754662
|
0.00001
|
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln)
|
rs1188095516
|
0.00001
|
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=)
|
rs535478432
|
0.00001
|
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)
|
rs779337715
|
0.00001
|
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)
|
rs746237272
|
0.00001
|
NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=)
|
rs1020718980
|
0.00001
|
NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile)
|
rs751228412
|
0.00001
|
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn)
|
rs375978224
|
0.00001
|
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)
|
rs773571672
|
0.00001
|
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)
|
rs760005580
|
0.00001
|
NM_017617.5(NOTCH1):c.5870A>C (p.Gln1957Pro)
|
rs201174576
|
0.00001
|
NM_017617.5(NOTCH1):c.587A>G (p.His196Arg)
|
rs1157720260
|
0.00001
|
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)
|
rs1371022203
|
0.00001
|
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)
|
rs759643831
|
0.00001
|
NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr)
|
rs542300217
|
0.00001
|
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile)
|
rs979299004
|
0.00001
|
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr)
|
rs745817995
|
0.00001
|
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser)
|
rs201058656
|
0.00001
|
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)
|
rs768543030
|
0.00001
|
NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val)
|
rs749262096
|
0.00001
|
NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn)
|
rs766745955
|
0.00001
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys)
|
rs375969725
|
0.00001
|
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met)
|
rs777501680
|
0.00001
|
NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=)
|
rs368287903
|
0.00001
|
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His)
|
rs1060502233
|
0.00001
|
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp)
|
rs757003332
|
0.00001
|
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr)
|
rs1055326153
|
0.00001
|
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)
|
rs761562076
|
0.00001
|
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met)
|
rs376241938
|
0.00001
|
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu)
|
rs751456570
|
0.00001
|
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met)
|
rs369457922
|
0.00001
|
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
|
rs553542677
|
0.00001
|
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser)
|
rs780071276
|
0.00001
|
NM_017617.5(NOTCH1):c.6871G>A (p.Gly2291Arg)
|
rs367721906
|
0.00001
|
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=)
|
rs201643432
|
0.00001
|
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val)
|
rs749993527
|
0.00001
|
NM_017617.5(NOTCH1):c.6921A>G (p.Gln2307=)
|
rs1361904973
|
0.00001
|
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp)
|
rs374453977
|
0.00001
|
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser)
|
rs747022065
|
0.00001
|
NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys)
|
rs779811889
|
0.00001
|
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu)
|
rs540165156
|
0.00001
|
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)
|
rs537766290
|
0.00001
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)
|
rs746658493
|
0.00001
|
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)
|
rs758410389
|
0.00001
|
NM_017617.5(NOTCH1):c.743-14C>T
|
rs536768165
|
0.00001
|
NM_017617.5(NOTCH1):c.743-18C>T
|
rs769949581
|
0.00001
|
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg)
|
rs764749582
|
0.00001
|
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)
|
rs761156723
|
0.00001
|
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly)
|
rs1186718194
|
0.00001
|
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr)
|
rs769784635
|
0.00001
|
NM_018486.3(HDAC8):c.1111+10G>T
|
rs373892213
|
0.00001
|
NM_018486.3(HDAC8):c.357G>A (p.Thr119=)
|
rs782021788
|
0.00001
|
NM_018486.3(HDAC8):c.438-17A>G
|
rs782753936
|
0.00001
|
NM_018486.3(HDAC8):c.910+17G>T
|
rs782676451
|
0.00001
|
NM_020436.5(SALL4):c.609C>A (p.Ala203=)
|
rs200416079
|
0.00001
|
NM_020937.4(FANCM):c.1183+8A>G
|
rs538172189
|
0.00001
|
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)
|
rs546318124
|
0.00001
|
NM_023110.3(FGFR1):c.359-7C>T
|
rs749216266
|
0.00001
|
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)
|
rs17175750
|
0.00001
|
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg)
|
rs368657696
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=)
|
rs571024836
|
0.00001
|
NM_133433.4(NIPBL):c.3574+20A>C
|
rs530238141
|
0.00001
|
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)
|
rs571637567
|
0.00001
|
NC_000016.10:g.13919809A>C
|
rs6498486
|
|
NM_000079.4(CHRNA1):c.1003-8dup
|
|
|
NM_000079.4(CHRNA1):c.190-13dup
|
rs34695580
|
|
NM_000079.4(CHRNA1):c.190-5del
|
rs34695580
|
|
NM_000135.4(FANCA):c.1225+10del
|
rs2143529499
|
|
NM_000135.4(FANCA):c.1225+20C>T
|
rs199534742
|
|
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000135.4(FANCA):c.2505-4del
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2602-19G>C
|
rs17233225
|
|
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)
|
rs536839082
|
|
NM_000135.4(FANCA):c.3349-5dup
|
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.427-19dup
|
|
|
NM_000135.4(FANCA):c.523-4dup
|
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000135.4(FANCA):c.826+10T>C
|
rs536052530
|
|
NM_000136.3(FANCC):c.1329+16del
|
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000136.3(FANCC):c.251-5del
|
|
|
NM_000136.3(FANCC):c.346-18del
|
|
|
NM_000136.3(FANCC):c.346-3del
|
rs766373744
|
|
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)
|
rs760471055
|
|
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)
|
rs545298641
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
NM_001018113.3(FANCB):c.1105-26TATT[7]
|
rs398123537
|
|
NM_001018113.3(FANCB):c.1197+19_1197+21del
|
rs755825913
|
|
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=)
|
|
|
NM_001018113.3(FANCB):c.1326+13A>G
|
|
|
NM_001018113.3(FANCB):c.1327-12dup
|
rs202067682
|
|
NM_001018113.3(FANCB):c.1327-3del
|
rs202067682
|
|
NM_001018113.3(FANCB):c.1373A>G (p.His458Arg)
|
|
|
NM_001018113.3(FANCB):c.153C>T (p.Asp51=)
|
|
|
NM_001018113.3(FANCB):c.1581G>T (p.Val527=)
|
|
|
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)
|
|
|
NM_001018113.3(FANCB):c.1928-5del
|
|
|
NM_001018113.3(FANCB):c.1928-5dup
|
|
|
NM_001018113.3(FANCB):c.1928-6_1928-5del
|
|
|
NM_001018113.3(FANCB):c.2166-8del
|
|
|
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=)
|
|
|
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys)
|
rs750078094
|
|
NM_001018113.3(FANCB):c.702C>T (p.Ser234=)
|
|
|
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)
|
rs746389250
|
|
NM_001018113.3(FANCB):c.774C>G (p.Ala258=)
|
rs1168908937
|
|
NM_001018113.3(FANCB):c.864A>G (p.Gln288=)
|
|
|
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)
|
|
|
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=)
|
rs72492997
|
|
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser)
|
rs73126218
|
|
NM_001018115.3(FANCD2):c.1414-9C>T
|
rs35557429
|
|
NM_001018115.3(FANCD2):c.1827+15del
|
|
|
NM_001018115.3(FANCD2):c.1827+15dup
|
|
|
NM_001018115.3(FANCD2):c.2103G>A (p.Pro701=)
|
rs139033444
|
|
NM_001018115.3(FANCD2):c.2606-11del
|
|
|
NM_001018115.3(FANCD2):c.273+12del
|
rs758809407
|
|
NM_001018115.3(FANCD2):c.274-14del
|
|
|
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)
|
rs555480773
|
|
NM_001113378.2(FANCI):c.1993-10del
|
|
|
NM_001113378.2(FANCI):c.2170-3dup
|
|
|
NM_001113378.2(FANCI):c.2292-12dup
|
|
|
NM_001113378.2(FANCI):c.2292-5dup
|
rs1567165544
|
|
NM_001113378.2(FANCI):c.288+19del
|
|
|
NM_001113378.2(FANCI):c.3187-7del
|
|
|
NM_001113378.2(FANCI):c.3538-6del
|
|
|
NM_001113378.2(FANCI):c.3538-6dup
|
|
|
NM_001113378.2(FANCI):c.3720+14A>G
|
rs200012909
|
|
NM_001113378.2(FANCI):c.3816+17_3816+19del
|
rs374324314
|
|
NM_001113378.2(FANCI):c.3925-7del
|
|
|
NM_001113378.2(FANCI):c.545+16del
|
|
|
NM_001113378.2(FANCI):c.975+10dup
|
rs751890595
|
|
NM_001113378.2(FANCI):c.975+23dup
|
|
|
NM_001113525.2(ZNF276):c.*523_*538del
|
|
|
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
|
|
|
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=)
|
rs149190709
|
|
NM_001271938.2(MEGF8):c.2299-15_2299-12del
|
rs141582110
|
|
NM_001271938.2(MEGF8):c.3350+16dup
|
|
|
NM_001271938.2(MEGF8):c.5344-14del
|
|
|
NM_001271938.2(MEGF8):c.5489-18T>C
|
|
|
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
|
|
|
NM_001271938.2(MEGF8):c.5720+11C>T
|
|
|
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=)
|
rs547635717
|
|
NM_001271938.2(MEGF8):c.6482-16A>G
|
|
|
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
|
|
|
NM_001271938.2(MEGF8):c.828+11del
|
rs2147449280
|
|
NM_001278689.2(EOGT):c.1152+10del
|
|
|
NM_001278689.2(EOGT):c.516-18T>C
|
|
|
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
|
|
|
NM_001278689.2(EOGT):c.807C>T (p.Asp269=)
|
|
|
NM_001346754.2(PIGW):c.1030T>C (p.Leu344=)
|
|
|
NM_001346754.2(PIGW):c.21G>A (p.Lys7=)
|
|
|
NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)
|
|
|
NM_001374353.1(GLI2):c.2088C>T (p.Ser696=)
|
|
|
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu)
|
rs151179617
|
|
NM_001374353.1(GLI2):c.2136C>T (p.Phe712=)
|
rs151179617
|
|
NM_001374353.1(GLI2):c.3552G>A (p.Thr1184=)
|
|
|
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe)
|
rs1553479775
|
|
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu)
|
rs148902971
|
|
NM_001374353.1(GLI2):c.4677C>T (p.Ala1559=)
|
|
|
NM_001374353.1(GLI2):c.643+16C>G
|
rs6718382
|
|
NM_001374353.1(GLI2):c.66C>T (p.Ala22=)
|
|
|
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
|
|
|
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
|
|
|
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
|
|
|
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
|
|
|
NM_001429.4(EP300):c.1283-16C>T
|
rs200548363
|
|
NM_001429.4(EP300):c.1283-19dup
|
|
|
NM_001429.4(EP300):c.1283-6C>G
|
|
|
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
|
|
|
NM_001429.4(EP300):c.156A>G (p.Glu52=)
|
|
|
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn)
|
rs547550163
|
|
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
|
|
|
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
|
|
|
NM_001429.4(EP300):c.1878+19dup
|
|
|
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
|
|
|
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
|
|
|
NM_001429.4(EP300):c.2053+18T>C
|
|
|
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
|
|
|
NM_001429.4(EP300):c.208A>G (p.Met70Val)
|
|
|
NM_001429.4(EP300):c.2131+24dup
|
rs766192274
|
|
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
|
|
|
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
|
|
|
NM_001429.4(EP300):c.231A>G (p.Lys77=)
|
|
|
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
|
|
|
NM_001429.4(EP300):c.2505A>G (p.Val835=)
|
|
|
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
|
|
|
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
|
|
|
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
|
|
|
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
|
|
|
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
|
|
|
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
|
|
|
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
|
|
|
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
|
|
|
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
|
|
|
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
|
|
|
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
|
|
|
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
|
|
|
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
|
|
|
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
|
|
|
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
|
|
|
NM_001429.4(EP300):c.3030C>G (p.Thr1010=)
|
rs148414681
|
|
NM_001429.4(EP300):c.3030C>T (p.Thr1010=)
|
rs148414681
|
|
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
|
|
|
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
|
|
|
NM_001429.4(EP300):c.3143-4del
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-5_3143-4dup
|
rs757931697
|
|
NM_001429.4(EP300):c.3143-6_3143-4dup
|
|
|
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
|
|
|
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
|
|
|
NM_001429.4(EP300):c.3354C>T (p.Val1118=)
|
rs11704815
|
|
NM_001429.4(EP300):c.33T>A (p.Pro11=)
|
|
|
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
|
|
|
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
|
|
|
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
|
|
|
NM_001429.4(EP300):c.3806+3A>G
|
rs1601629363
|
|
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
|
|
|
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
|
|
|
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
|
|
|
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
|
|
|
NM_001429.4(EP300):c.3996C>T (p.Thr1332=)
|
rs142288817
|
|
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
|
|
|
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
|
|
|
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
|
|
|
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
|
|
|
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
|
|
|
NM_001429.4(EP300):c.4687C>T (p.Leu1563=)
|
rs564848230
|
|
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val)
|
rs140154690
|
|
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
|
|
|
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
|
|
|
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
|
|
|
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
|
|
|
NM_001429.4(EP300):c.532T>C (p.Leu178=)
|
|
|
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
|
|
|
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
|
|
|
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
|
|
|
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
|
|
|
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
|
|
|
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
|
|
|
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
|
|
|
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
|
|
|
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
|
|
|
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
|
|
|
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
|
|
|
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
|
|
|
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
|
|
|
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
|
|
|
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
|
|
|
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
|
|
|
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
|
|
|
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
|
|
|
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
|
|
|
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
|
|
|
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
|
|
|
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
|
|
|
NM_001429.4(EP300):c.63G>C (p.Pro21=)
|
|
|
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
|
|
|
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
|
|
|
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
|
|
|
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
|
|
|
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
|
|
|
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
|
|
|
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
|
|
|
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
|
|
|
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
|
|
|
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
|
|
|
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
|
|
|
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
|
|
|
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
|
|
|
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
|
|
|
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
|
|
|
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
|
|
|
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
|
|
|
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
|
|
|
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
|
|
|
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
|
|
|
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
|
|
|
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
|
|
|
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
|
|
|
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
|
|
|
NM_001429.4(EP300):c.730-18_730-9del
|
rs61120041
|
|
NM_001429.4(EP300):c.750C>T (p.Pro250=)
|
|
|
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
|
|
|
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
|
|
|
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
|
|
|
NM_001429.4(EP300):c.963A>G (p.Gln321=)
|
|
|
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
|
|
|
NM_001999.4(FBN2):c.1079-7T>C
|
|
|
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
|
|
|
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
|
|
|
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
|
|
|
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)
|
rs200440156
|
|
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
|
|
|
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
|
|
|
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
|
|
|
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
|
rs747084358
|
|
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
|
|
|
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
|
|
|
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
|
|
|
NM_001999.4(FBN2):c.3217+12C>A
|
rs375688726
|
|
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
|
|
|
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
|
|
|
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His)
|
rs1297011367
|
|
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
|
|
|
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
|
|
|
NM_001999.4(FBN2):c.3848-10G>T
|
rs140017238
|
|
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
|
|
|
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
|
|
|
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile)
|
rs367961012
|
|
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
|
|
|
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
|
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.4472-12dup
|
|
|
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
|
|
|
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
|
|
|
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
|
|
|
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
|
|
|
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
|
|
|
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
|
|
|
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
|
|
|
NM_001999.4(FBN2):c.5675-17A>T
|
|
|
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
|
|
|
NM_001999.4(FBN2):c.5918-10T>C
|
rs547697385
|
|
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu)
|
rs976599275
|
|
NM_001999.4(FBN2):c.6047-9del
|
|
|
NM_001999.4(FBN2):c.6167-4G>T
|
rs370981323
|
|
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
|
|
|
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
|
|
|
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
|
|
|
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=)
|
rs140044610
|
|
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro)
|
rs893243344
|
|
NM_001999.4(FBN2):c.6881-15del
|
|
|
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
|
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
|
|
|
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
|
|
|
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
|
|
|
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
|
|
|
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
|
|
|
NM_001999.4(FBN2):c.756G>A (p.Glu252=)
|
rs565550310
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
|
|
|
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
|
|
|
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)
|
rs769593495
|
|
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
|
|
|
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)
|
rs148971572
|
|
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
|
|
|
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
|
|
|
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
|
|
|
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
|
|
|
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
|
|
|
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=)
|
rs778576181
|
|
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
|
|
|
NM_002334.4(LRP4):c.2093-15dup
|
rs375880498
|
|
NM_002334.4(LRP4):c.2814+13_2814+35del
|
|
|
NM_002334.4(LRP4):c.3004+18C>A
|
rs2306028
|
|
NM_002334.4(LRP4):c.3536+16A>T
|
|
|
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=)
|
rs550931351
|
|
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln)
|
rs3816614
|
|
NM_002968.3(SALL1):c.1731C>G (p.Pro577=)
|
rs767216757
|
|
NM_002968.3(SALL1):c.1911G>A (p.Ala637=)
|
rs148595195
|
|
NM_002968.3(SALL1):c.2343G>A (p.Leu781=)
|
|
|
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)
|
rs142054182
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)
|
|
|
NM_003289.4(TPM2):c.300C>T (p.Asp100=)
|
rs532190742
|
|
NM_003289.4(TPM2):c.375-12C>A
|
|
|
NM_003289.4(TPM2):c.564-19del
|
rs3215700
|
|
NM_003289.4(TPM2):c.564-19dup
|
rs3215700
|
|
NM_003289.4(TPM2):c.564-20_564-19dup
|
rs3215700
|
|
NM_003289.4(TPM2):c.564-6dup
|
rs1439651784
|
|
NM_003289.4(TPM2):c.773-3del
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-4_773-3dup
|
rs35401252
|
|
NM_003289.4(TPM2):c.773-5_773-3dup
|
rs35401252
|
|
NM_003334.4(UBA1):c.1233+20G>C
|
|
|
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
|
|
|
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
|
|
|
NM_003334.4(UBA1):c.1695C>T (p.Phe565=)
|
rs782804501
|
|
NM_003334.4(UBA1):c.177-13C>T
|
|
|
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
|
|
|
NM_003334.4(UBA1):c.2003+10T>C
|
|
|
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
|
|
|
NM_003334.4(UBA1):c.2275-17G>A
|
|
|
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
|
|
|
NM_003334.4(UBA1):c.2646+11T>A
|
rs367788670
|
|
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
|
|
|
NM_003334.4(UBA1):c.2839-13_2839-12del
|
|
|
NM_003334.4(UBA1):c.430G>A (p.Val144Ile)
|
rs781887272
|
|
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
|
|
|
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
|
|
|
NM_003334.4(UBA1):c.587+21del
|
|
|
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
|
|
|
NM_004380.3(CREBBP):c.1095T>C (p.His365=)
|
rs565069106
|
|
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
|
|
|
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
|
|
|
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
|
|
|
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
|
|
|
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
|
|
|
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
|
|
|
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
|
|
|
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
|
|
|
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
|
|
|
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
|
|
|
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
|
|
|
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
|
|
|
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
|
|
|
NM_004380.3(CREBBP):c.1941+18G>A
|
|
|
NM_004380.3(CREBBP):c.1942-17A>G
|
|
|
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
|
|
|
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
|
|
|
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser)
|
rs531539047
|
|
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
|
|
|
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
|
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
|
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
|
|
|
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)
|
rs770952413
|
|
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
|
|
|
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
|
|
|
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
|
|
|
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
|
|
|
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
|
|
|
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
|
|
|
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
|
|
|
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
|
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
|
|
|
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
|
|
|
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
|
|
|
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
|
|
|
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
|
|
|
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser)
|
rs886042430
|
|
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
|
|
|
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
|
|
|
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
|
|
|
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
|
|
|
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
|
|
|
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
|
|
|
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
|
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
|
|
|
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
|
|
|
NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3370-5_3370-4del
|
rs75459669
|
|
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
|
|
|
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
|
|
|
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
|
|
|
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
|
|
|
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
|
|
|
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
|
|
|
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
|
|
|
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
|
|
|
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
|
|
|
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
|
|
|
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
|
|
|
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
|
|
|
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
|
|
|
NM_004380.3(CREBBP):c.4728+8C>T
|
|
|
NM_004380.3(CREBBP):c.4729-14G>A
|
rs130008
|
|
NM_004380.3(CREBBP):c.4729-14G>C
|
rs130008
|
|
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
|
|
|
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
|
|
|
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
|
|
|
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
|
|
|
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
|
|
|
NM_004380.3(CREBBP):c.4890+16G>A
|
|
|
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
|
|
|
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
|
|
|
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
|
|
|
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
|
|
|
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
|
|
|
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
|
|
|
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
|
|
|
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
|
|
|
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
|
|
|
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
|
|
|
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
|
|
|
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
|
|
|
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
|
|
|
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)
|
rs765600316
|
|
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
|
|
|
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
|
|
|
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
|
|
|
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
|
|
|
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
|
|
|
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
|
|
|
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
|
|
|
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
|
|
|
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
|
|
|
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
|
|
|
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
|
|
|
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met)
|
rs147448293
|
|
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
|
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779
|
|
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
|
|
|
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
|
|
|
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
|
|
|
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
|
|
|
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
|
|
|
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
|
|
|
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
|
|
|
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
|
|
|
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
|
|
|
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
|
|
|
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
|
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
|
|
|
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
|
|
|
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
|
|
|
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
|
|
|
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
|
|
|
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
|
|
|
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
|
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
|
|
|
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
|
|
|
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
|
|
|
NM_005055.5(RAPSN):c.1166+19del
|
rs760797252
|
|
NM_005055.5(RAPSN):c.1166+19dup
|
|
|
NM_005055.5(RAPSN):c.691-11del
|
rs34729771
|
|
NM_005105.5(RBM8A):c.127+21dup
|
|
|
NM_005105.5(RBM8A):c.206-13del
|
|
|
NM_005105.5(RBM8A):c.206-20T>C
|
rs117017431
|
|
NM_005236.3(ERCC4):c.1213+11dup
|
|
|
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)
|
rs55761944
|
|
NM_005236.3(ERCC4):c.974-7_974-6inv
|
|
|
NM_005445.4(SMC3):c.1509+16del
|
|
|
NM_005445.4(SMC3):c.1963+16T>C
|
|
|
NM_005445.4(SMC3):c.2645-8del
|
|
|
NM_005445.4(SMC3):c.270+17_270+18del
|
|
|
NM_005445.4(SMC3):c.270+18del
|
|
|
NM_005445.4(SMC3):c.270+18dup
|
rs756099489
|
|
NM_005445.4(SMC3):c.2893-17A>G
|
|
|
NM_005445.4(SMC3):c.3298-3dup
|
rs750133429
|
|
NM_005445.4(SMC3):c.350+21del
|
|
|
NM_005445.4(SMC3):c.350+21dup
|
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005445.4(SMC3):c.724-6dup
|
rs11380915
|
|
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)
|
rs538655454
|
|
NM_005592.4(MUSK):c.1778+25del
|
|
|
NM_005592.4(MUSK):c.1927+9dup
|
rs555725730
|
|
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)
|
rs578430
|
|
NM_005592.4(MUSK):c.486+22del
|
|
|
NM_006147.3(IRF6):c.-313T>A
|
rs34743335
|
|
NM_006147.4(IRF6):c.390G>A (p.Gly130=)
|
rs34907424
|
|
NM_006147.4(IRF6):c.390G>T (p.Gly130=)
|
rs34907424
|
|
NM_006265.3(RAD21):c.1564C>G (p.Leu522Val)
|
|
|
NM_006265.3(RAD21):c.1620+11_1620+14del
|
|
|
NM_006265.3(RAD21):c.689-15C>A
|
|
|
NM_006265.3(RAD21):c.815-10_815-5del
|
rs35902828
|
|
NM_006265.3(RAD21):c.815-15_815-5del
|
|
|
NM_006265.3(RAD21):c.815-5del
|
rs35902828
|
|
NM_006265.3(RAD21):c.815-6_815-5del
|
rs35902828
|
|
NM_006265.3(RAD21):c.938-14del
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)
|
|
|
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)
|
|
|
NM_006306.4(SMC1A):c.1113+17del
|
|
|
NM_006306.4(SMC1A):c.1152G>A (p.Lys384=)
|
|
|
NM_006306.4(SMC1A):c.1546-11A>G
|
|
|
NM_006306.4(SMC1A):c.2421-15del
|
|
|
NM_006306.4(SMC1A):c.2421-15dup
|
rs781926382
|
|
NM_006306.4(SMC1A):c.2563-7G>A
|
|
|
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn)
|
rs2146593635
|
|
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)
|
|
|
NM_006306.4(SMC1A):c.2863-14C>T
|
|
|
NM_006306.4(SMC1A):c.2973+11A>G
|
|
|
NM_006306.4(SMC1A):c.2973+18G>A
|
rs782310979
|
|
NM_006306.4(SMC1A):c.3131-19C>T
|
|
|
NM_006306.4(SMC1A):c.3286-4del
|
rs782700135
|
|
NM_006306.4(SMC1A):c.3508-15C>T
|
|
|
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
|
rs782175064
|
|
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg)
|
rs2146605622
|
|
NM_006306.4(SMC1A):c.616-6G>A
|
rs587784424
|
|
NM_006306.4(SMC1A):c.854+6_854+7del
|
rs1569358983
|
|
NM_012243.3(SLC35A3):c.635-3dup
|
|
|
NM_012243.3(SLC35A3):c.887+25dup
|
|
|
NM_013352.4(DSE):c.2619_2621del (p.Gly874del)
|
rs111252008
|
|
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)
|
|
|
NM_014918.5(CHSY1):c.2232C>T (p.His744=)
|
|
|
NM_014918.5(CHSY1):c.666G>A (p.Gly222=)
|
rs74545602
|
|
NM_014918.5(CHSY1):c.817-11dup
|
rs769105634
|
|
NM_016277.5(RAB23):c.242-31ATTG[6]
|
rs45542438
|
|
NM_016277.5(RAB23):c.399-15dup
|
|
|
NM_016277.5(RAB23):c.481+17G>A
|
|
|
NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)
|
|
|
NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)
|
|
|
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=)
|
|
|
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
|
|
|
NM_017617.5(NOTCH1):c.1239G>A (p.Val413=)
|
|
|
NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val)
|
|
|
NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=)
|
rs1466608110
|
|
NM_017617.5(NOTCH1):c.1347C>T (p.Cys449=)
|
|
|
NM_017617.5(NOTCH1):c.1350G>A (p.Glu450=)
|
|
|
NM_017617.5(NOTCH1):c.1353C>T (p.Ile451=)
|
|
|
NM_017617.5(NOTCH1):c.1441+11C>T
|
rs376506127
|
|
NM_017617.5(NOTCH1):c.1483G>A (p.Ala495Thr)
|
|
|
NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu)
|
|
|
NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln)
|
|
|
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)
|
rs373125283
|
|
NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His)
|
|
|
NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=)
|
|
|
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)
|
rs775217381
|
|
NM_017617.5(NOTCH1):c.1768C>T (p.Leu590Phe)
|
|
|
NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr)
|
|
|
NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=)
|
|
|
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn)
|
rs368996332
|
|
NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=)
|
|
|
NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=)
|
|
|
NM_017617.5(NOTCH1):c.2157G>A (p.Glu719=)
|
|
|
NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=)
|
|
|
NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile)
|
|
|
NM_017617.5(NOTCH1):c.2328G>A (p.Val776=)
|
|
|
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp)
|
rs756642176
|
|
NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)
|
|
|
NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile)
|
|
|
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)
|
|
|
NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met)
|
|
|
NM_017617.5(NOTCH1):c.2424C>T (p.Asp808=)
|
|
|
NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser)
|
|
|
NM_017617.5(NOTCH1):c.2467+17dup
|
|
|
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)
|
rs61751551
|
|
NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=)
|
|
|
NM_017617.5(NOTCH1):c.2587+19C>G
|
rs577190264
|
|
NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=)
|
|
|
NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=)
|
|
|
NM_017617.5(NOTCH1):c.2740+13G>A
|
|
|
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=)
|
rs557156741
|
|
NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=)
|
|
|
NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His)
|
|
|
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
|
|
|
NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=)
|
|
|
NM_017617.5(NOTCH1):c.2970-7del
|
rs34868738
|
|
NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=)
|
|
|
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr)
|
rs746491686
|
|
NM_017617.5(NOTCH1):c.3060C>T (p.His1020=)
|
|
|
NM_017617.5(NOTCH1):c.335G>T (p.Arg112Leu)
|
|
|
NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)
|
|
|
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=)
|
rs753526994
|
|
NM_017617.5(NOTCH1):c.3465G>A (p.Gln1155=)
|
|
|
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn)
|
rs745590123
|
|
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
|
|
|
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)
|
rs61751544
|
|
NM_017617.5(NOTCH1):c.3643+16C>T
|
|
|
NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr)
|
rs1327576450
|
|
NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser)
|
|
|
NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val)
|
|
|
NM_017617.5(NOTCH1):c.3788G>T (p.Arg1263Leu)
|
|
|
NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=)
|
|
|
NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu)
|
|
|
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=)
|
rs377289044
|
|
NM_017617.5(NOTCH1):c.3901+11C>T
|
|
|
NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile)
|
|
|
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
|
rs149057410
|
|
NM_017617.5(NOTCH1):c.3977C>T (p.Ser1326Phe)
|
|
|
NM_017617.5(NOTCH1):c.3984C>T (p.Thr1328=)
|
|
|
NM_017617.5(NOTCH1):c.3985G>A (p.Ala1329Thr)
|
rs763098618
|
|
NM_017617.5(NOTCH1):c.4020C>T (p.Phe1340=)
|
|
|
NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys)
|
|
|
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg)
|
rs201215245
|
|
NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=)
|
|
|
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg)
|
rs778270588
|
|
NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu)
|
|
|
NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp)
|
|
|
NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=)
|
|
|
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
|
|
|
NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=)
|
|
|
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)
|
rs373960609
|
|
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)
|
rs1388726872
|
|
NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)
|
|
|
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser)
|
|
|
NM_017617.5(NOTCH1):c.4587-10dup
|
rs766780122
|
|
NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn)
|
|
|
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
|
|
|
NM_017617.5(NOTCH1):c.4692T>C (p.His1564=)
|
|
|
NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=)
|
|
|
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr)
|
|
|
NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=)
|
|
|
NM_017617.5(NOTCH1):c.4836C>T (p.Gly1612=)
|
|
|
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=)
|
|
|
NM_017617.5(NOTCH1):c.4890C>T (p.Pro1630=)
|
|
|
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
|
|
|
NM_017617.5(NOTCH1):c.4903G>A (p.Ala1635Thr)
|
|
|
NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=)
|
|
|
NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=)
|
|
|
NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=)
|
|
|
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
|
|
|
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)
|
rs367838230
|
|
NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln)
|
|
|
NM_017617.5(NOTCH1):c.5019-13_5019-10del
|
rs374419074
|
|
NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=)
|
|
|
NM_017617.5(NOTCH1):c.513T>C (p.His171=)
|
|
|
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=)
|
|
|
NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg)
|
|
|
NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=)
|
|
|
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)
|
rs755659037
|
|
NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly)
|
|
|
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
|
rs374103443
|
|
NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr)
|
rs200603539
|
|
NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=)
|
|
|
NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile)
|
|
|
NM_017617.5(NOTCH1):c.569G>A (p.Arg190His)
|
rs761616770
|
|
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=)
|
rs770803201
|
|
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
|
|
|
NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=)
|
|
|
NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=)
|
|
|
NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=)
|
|
|
NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile)
|
|
|
NM_017617.5(NOTCH1):c.61+19G>A
|
rs957002412
|
|
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu)
|
|
|
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)
|
rs779118023
|
|
NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val)
|
|
|
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)
|
|
|
NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg)
|
|
|
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)
|
rs554843595
|
|
NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=)
|
|
|
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)
|
|
|
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp)
|
|
|
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val)
|
|
|
NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val)
|
|
|
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met)
|
rs754236791
|
|
NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=)
|
|
|
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
|
|
|
NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=)
|
|
|
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)
|
rs377165086
|
|
NM_017617.5(NOTCH1):c.6747G>A (p.Val2249=)
|
rs751544476
|
|
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)
|
rs759225800
|
|
NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=)
|
|
|
NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=)
|
|
|
NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser)
|
|
|
NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys)
|
|
|
NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val)
|
|
|
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
|
|
|
NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=)
|
|
|
NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser)
|
|
|
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys)
|
rs767497870
|
|
NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu)
|
|
|
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
|
|
|
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
|
|
|
NM_017617.5(NOTCH1):c.743-12del
|
rs774029678
|
|
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)
|
rs1268405497
|
|
NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)
|
|
|
NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)
|
|
|
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=)
|
rs774222164
|
|
NM_017617.5(NOTCH1):c.855A>G (p.Pro285=)
|
|
|
NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)
|
|
|
NM_017617.5(NOTCH1):c.891C>T (p.Asp297=)
|
|
|
NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg)
|
rs895972070
|
|
NM_018062.4(FANCL):c.1020+14del
|
|
|
NM_018062.4(FANCL):c.1020+8dup
|
|
|
NM_018062.4(FANCL):c.216+13del
|
rs1558823075
|
|
NM_018062.4(FANCL):c.541-6dup
|
rs746526500
|
|
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del)
|
rs549637282
|
|
NM_018062.4(FANCL):c.776-10del
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-11_776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.822-15dup
|
rs570217357
|
|
NM_018062.4(FANCL):c.93T>C (p.Ala31=)
|
rs563039004
|
|
NM_018486.3(HDAC8):c.1006-4A>G
|
|
|
NM_018486.3(HDAC8):c.112-17del
|
rs3830710
|
|
NM_018486.3(HDAC8):c.112-18_112-17dup
|
|
|
NM_018486.3(HDAC8):c.112-29dup
|
rs3830710
|
|
NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu)
|
|
|
NM_018486.3(HDAC8):c.12G>A (p.Pro4=)
|
|
|
NM_018486.3(HDAC8):c.166A>G (p.Ile56Val)
|
|
|
NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln)
|
|
|
NM_018486.3(HDAC8):c.474T>C (p.Ala158=)
|
|
|
NM_018486.3(HDAC8):c.669G>T (p.Arg223=)
|
|
|
NM_018486.3(HDAC8):c.911-5G>C
|
|
|
NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro)
|
|
|
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
|
|
|
NM_020436.5(SALL4):c.1779G>T (p.Pro593=)
|
rs147254025
|
|
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del)
|
rs557068877
|
|
NM_020436.5(SALL4):c.2742+16C>T
|
|
|
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
|
|
|
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
|
|
|
NM_020436.5(SALL4):c.762C>T (p.Ala254=)
|
rs141546409
|
|
NM_020937.4(FANCM):c.1397-15TA[6]
|
rs112326758
|
|
NM_020937.4(FANCM):c.1397-15TA[8]
|
rs112326758
|
|
NM_020937.4(FANCM):c.4387-16del
|
|
|
NM_020937.4(FANCM):c.4515+14del
|
rs747887646
|
|
NM_020937.4(FANCM):c.4516-5_4516-2del
|
rs796584585
|
|
NM_020937.4(FANCM):c.682-7del
|
rs759364320
|
|
NM_020937.4(FANCM):c.682-7dup
|
rs759364320
|
|
NM_020937.4(FANCM):c.876G>T (p.Pro292=)
|
rs150757891
|
|
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly)
|
rs200535245
|
|
NM_021922.3(FANCE):c.1383+20dup
|
rs770300367
|
|
NM_021922.3(FANCE):c.387A>C (p.Pro129=)
|
rs4713867
|
|
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)
|
rs45451605
|
|
NM_021922.3(FANCE):c.901-3del
|
|
|
NM_022725.4(FANCF):c.-10C>T
|
rs3740615
|
|
NM_023110.3(FGFR1):c.1430+7_1430+9del
|
rs772340109
|
|
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
|
|
|
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
|
|
|
NM_032043.3(BRIP1):c.1473+14del
|
rs876660968
|
|
NM_032043.3(BRIP1):c.1473+14dup
|
rs876660968
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
NM_032043.3(BRIP1):c.2098-16del
|
rs1064793669
|
|
NM_032043.3(BRIP1):c.2098-22dup
|
rs1064793669
|
|
NM_032043.3(BRIP1):c.2258-13dup
|
rs2144680932
|
|
NM_032043.3(BRIP1):c.2380-11dup
|
rs2144384661
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2493-10dup
|
rs1457869893
|
|
NM_032043.3(BRIP1):c.380-17del
|
rs545021924
|
|
NM_032043.3(BRIP1):c.380-17dup
|
rs545021924
|
|
NM_032043.3(BRIP1):c.918+17del
|
|
|
NM_032444.4(SLX4):c.1163+10C>G
|
rs80116508
|
|
NM_032444.4(SLX4):c.1163+10C>T
|
rs80116508
|
|
NM_032444.4(SLX4):c.1227G>A (p.Lys409=)
|
rs534443134
|
|
NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg)
|
rs569591337
|
|
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del)
|
rs536289991
|
|
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met)
|
rs863224277
|
|
NM_032444.4(SLX4):c.5154-4del
|
rs2151116057
|
|
NM_032634.4(PIGO):c.2520C>T (p.Leu840=)
|
rs537796918
|
|
NM_032634.4(PIGO):c.2563A>G (p.Ile855Val)
|
|
|
NM_032634.4(PIGO):c.2854+8del
|
rs756312077
|
|
NM_032634.4(PIGO):c.512-17C>T
|
rs2240116
|
|
NM_032634.4(PIGO):c.714C>T (p.Gly238=)
|
rs148186264
|
|
NM_058216.3(RAD51C):c.1026+13T>C
|
rs531535812
|
|
NM_058216.3(RAD51C):c.1027-10del
|
rs768715761
|
|
NM_058216.3(RAD51C):c.1027-10dup
|
rs768715761
|
|
NM_058216.3(RAD51C):c.146-9del
|
|
|
NM_058216.3(RAD51C):c.572-11del
|
rs587780258
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_133433.4(NIPBL):c.3305-18A>G
|
|
|
NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=)
|
|
|
NM_133433.4(NIPBL):c.4422-12del
|
rs797045759
|
|
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
|
|
|
NM_133433.4(NIPBL):c.4921-12T>C
|
|
|
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
|
|
|
NM_133433.4(NIPBL):c.5808+20G>C
|
|
|
NM_133433.4(NIPBL):c.65-20T>G
|
|
|
NM_133433.4(NIPBL):c.6590-12C>T
|
|
|
NM_133433.4(NIPBL):c.6763+20T>C
|
|
|
NM_133433.4(NIPBL):c.6955-9del
|
rs757731487
|
|
NM_133433.4(NIPBL):c.6955-9dup
|
|
|
NM_133433.4(NIPBL):c.7685+19T>G
|
|
|
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val)
|
rs1248025959
|
|
NM_133433.4(NIPBL):c.8050-15del
|
|
|
NM_147127.5(EVC2):c.1146-12dup
|
|
|
NM_147127.5(EVC2):c.1710+16C>T
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-12_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.2047-18dup
|
|
|
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His)
|
rs1577169974
|
|
NM_147127.5(EVC2):c.2571C>T (p.Gly857=)
|
rs533262793
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147127.5(EVC2):c.3272+8G>C
|
rs201800139
|
|
NM_147127.5(EVC2):c.451-16_451-15del
|
rs377541465
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
|
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1777-6G>A
|
rs565093715
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+15dup
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+16del
|
|
|
NM_153717.3(EVC):c.2562-3del
|
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.2895-16_2895-13del
|
rs773917688
|
|
NM_153717.3(EVC):c.612C>T (p.Cys204=)
|
rs553634958
|
|
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
|
|
|
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
|
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.220= (p.Leu74=)
|
rs4325970
|
|
NM_173660.5(DOK7):c.54+31_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.546C>T (p.Phe182=)
|
rs575721820
|
|
NM_173660.5(DOK7):c.55-12del
|
rs1214849085
|
|
NM_173660.5(DOK7):c.653-20G>T
|
rs185980724
|
|
NM_173660.5(DOK7):c.772+13dup
|
|
|
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys)
|
rs142821143
|
|
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
|
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys)
|
rs150728781
|
|