ClinVar Miner

List of variants reported as benign for congenital limb malformation by Invitae

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2958
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HGVS dbSNP gnomAD frequency
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

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