ClinVar Miner

List of variants reported as benign for congenital limb malformation by Genome-Nilou Lab

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 752
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HGVS dbSNP gnomAD frequency
NM_001361.5(DHODH):c.435-38G>C rs11075914 0.99994
NM_000079.4(CHRNA1):c.235-385C>T rs2646164 0.99734
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_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
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_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_003334.4(UBA1):c.811+9C>G rs4239964 0.98795
NM_033116.6(NEK9):c.*13G>A rs175487 0.98559
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_032634.4(PIGO):c.*41T>G rs556766 0.98454
NM_020639.3(RIPK4):c.1996A>G (p.Met666Val) rs3746891 0.98229
NM_002010.3(FGF9):c.*9G>A rs9509842 0.98213
NM_016653.3(MAP3K20):c.670-11G>C rs11899707 0.98158
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_000135.4(FANCA):c.1225+151T>C rs6500451 0.97075
NM_000135.4(FANCA):c.2316+67A>G rs7200990 0.97043
NM_005445.4(SMC3):c.2116+23G>A rs7075340 0.96693
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_004826.4(ECEL1):c.982C>T (p.His328Tyr) rs1529874 0.96312
NM_139284.3(LGI4):c.456T>C (p.His152=) rs1673007 0.96172
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_002465.4(MYBPC1):c.2544T>C (p.Ile848=) rs7139095 0.95112
NM_005592.4(MUSK):c.1586+26T>C rs484010 0.94561
NM_002465.4(MYBPC1):c.1633+33T>C rs1997204 0.94445
NM_000921.5(PDE3A):c.1194C>T (p.Val398=) rs10743380 0.89795
NM_000921.5(PDE3A):c.2769+30C>T rs9284155 0.89678
NM_015425.6(POLR1A):c.1258-19A>G rs2288117 0.88485
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_001374353.1(GLI2):c.1060-27C>T rs2592591 0.88085
NM_000079.4(CHRNA1):c.1003-53A>G rs2646159 0.87287
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=) rs7167612 0.87160
NM_001793.6(CDH3):c.390+37T>C rs2296410 0.87073
NM_002472.3(MYH8):c.714T>C (p.Thr238=) rs8068729 0.86257
NM_182961.4(SYNE1):c.17203-48G>A rs4112833 0.85656
NM_001164508.2(NEB):c.294+52T>G rs4664499 0.85425
NM_001137601.3(ZBTB42):c.45A>G (p.Arg15=) rs12878684 0.84662
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) rs6505592 0.84626
NM_001378183.1(PIEZO2):c.2492+48del rs3830641 0.84419
NM_001378183.1(PIEZO2):c.4708+18C>T rs5024299 0.83716
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) rs3732413 0.83326
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=) rs7227167 0.83322
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=) rs7407105 0.81713
NM_001378183.1(PIEZO2):c.3451-28T>C rs2865119 0.81541
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_006757.4(TNNT3):c.83-48A>G rs629990 0.81000
NM_006757.4(TNNT3):c.107-115T>C rs2292471 0.80994
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_182961.4(SYNE1):c.12352-39A>G rs9479298 0.80324
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_006757.4(TNNT3):c.681+63T>C rs513735 0.79566
NM_182961.4(SYNE1):c.1463+24G>T rs4523096 0.78969
NM_002010.3(FGF9):c.447A>G (p.Ser149=) rs9509841 0.78590
NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys) rs4983387 0.78331
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=) rs7241380 0.78175
NM_001164508.2(NEB):c.402+101A>G rs4300824 0.78142
NM_002470.4(MYH3):c.4957-16G>C rs2239936 0.78067
NM_015425.6(POLR1A):c.448C>G (p.Pro150Ala) rs4832242 0.77586
NM_001374353.1(GLI2):c.643+35T>C rs12617878 0.77226
NM_001374353.1(GLI2):c.643+24G>A rs12614482 0.77219
NM_006757.4(TNNT3):c.32-149A>T rs2734500 0.76033
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_016213.5(TRIP4):c.1044-25G>A rs2046356 0.74036
NM_001271938.2(MEGF8):c.1933+27A>G rs874002 0.73512
NM_173660.5(DOK7):c.533-29A>G rs2006791 0.73240
NM_006757.4(TNNT3):c.18-76A>G rs965912 0.73230
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn) rs8058922 0.72932
NM_016653.3(MAP3K20):c.1360-28A>G rs820008 0.72578
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_015425.6(POLR1A):c.77+14C>T rs4832245 0.71646
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_001378183.1(PIEZO2):c.7952+33C>T rs487037 0.70798
NM_020639.3(RIPK4):c.937-45T>G rs2277790 0.70798
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_015425.6(POLR1A):c.678G>A (p.Thr226=) rs2288120 0.69550
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
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_003632.3(CNTNAP1):c.364-34A>G rs9889373 0.68019
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370 0.67566
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_015425.6(POLR1A):c.4224G>A (p.Gly1408=) rs2276626 0.67028
NM_017617.5(NOTCH1):c.3325+21A>G rs3124597 0.66794
NM_017617.5(NOTCH1):c.2970-31A>G rs3124598 0.66710
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_004826.4(ECEL1):c.787-23G>C rs2573246 0.66473
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001330677.2(TBX15):c.694-49T>C rs4659129 0.65459
NM_020754.4(ARHGAP31):c.1926+5A>G rs1463139 0.65459
NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=) rs4804151 0.65403
NM_001164508.2(NEB):c.24580-81A>G rs4664455 0.65048
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_182961.4(SYNE1):c.19471-18C>T rs6557210 0.64435
NM_001378183.1(PIEZO2):c.4514+32C>T rs8093389 0.64387
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_138959.3(VANGL1):c.813-45C>A rs10754330 0.64088
NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=) rs4804152 0.63966
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) rs8096037 0.63926
NM_033419.5(PGAP3):c.900-10T>C rs2247862 0.63744
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_001164508.2(NEB):c.20158-42G>A rs2288201 0.63566
NM_033419.5(PGAP3):c.465T>C (p.Val155=) rs2941504 0.63491
NM_017617.5(NOTCH1):c.1556-43T>C rs4880099 0.63476
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_004247.4(EFTUD2):c.1059-31T>C rs2120276 0.63264
NM_002465.4(MYBPC1):c.2222-38T>C rs2254631 0.63203
NM_002470.4(MYH3):c.534-44T>C rs1989810 0.63169
NM_001793.6(CDH3):c.720G>A (p.Thr240=) rs2296409 0.63066
NM_001793.6(CDH3):c.813C>A (p.Thr271=) rs2296408 0.62977
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_001164508.2(NEB):c.1674+30T>G rs6433569 0.62430
NM_017617.5(NOTCH1):c.5473-43T>C rs3124594 0.62391
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) rs2296405 0.62283
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_001374353.1(GLI2):c.2242+35A>G rs2276553 0.62175
NM_001164508.2(NEB):c.21840+82A>G rs2288198 0.61992
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_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_000921.5(PDE3A):c.1760+38A>C rs7304499 0.61326
NM_016111.4(TELO2):c.682+115C>T rs2235630 0.61186
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) rs2274239 0.61024
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_020812.4(DOCK6):c.377+12T>A rs8113582 0.59788
NM_001164508.2(NEB):c.22162-108C>T rs2288196 0.59579
NM_001164508.2(NEB):c.22800+32C>T rs16830136 0.59551
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=) rs3744552 0.59381
NM_182961.4(SYNE1):c.11734-5T>G rs9478320 0.59305
NM_001164508.2(NEB):c.20368-57G>A rs4664486 0.59006
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) rs4888262 0.58882
NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=) rs2271029 0.58855
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964 0.58143
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_182961.4(SYNE1):c.11580+15C>T rs6908392 0.57402
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_002470.4(MYH3):c.1141+32G>A rs2239934 0.57301
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.4956+32C>T rs4792008 0.57288
NM_002470.4(MYH3):c.1003-22C>T rs2239933 0.57286
NM_002470.4(MYH3):c.349-43C>T rs2285466 0.57166
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_001164508.2(NEB):c.20998-44A>C rs3732310 0.56531
NM_001079520.2(DACT1):c.268C>T (p.Leu90=) rs2003021 0.56249
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001164508.2(NEB):c.19731+103G>T rs4575719 0.55813
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_002465.4(MYBPC1):c.*78G>A rs2764 0.55606
NM_001164508.2(NEB):c.21522+78C>G rs60806638 0.55600
NM_012398.3(PIP5K1C):c.468+20C>T rs3826944 0.55166
NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=) rs2304155 0.55134
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_020639.3(RIPK4):c.1196-43A>G rs3746895 0.54619
NM_001361.5(DHODH):c.518-39G>T rs1862752 0.54545
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu) rs12978266 0.53878
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001113525.2(ZNF276):c.*1693A>T rs7195906 0.53795
NM_012398.3(PIP5K1C):c.1787+31G>A rs3815338 0.53685
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_000921.5(PDE3A):c.2925+15T>C rs10743384 0.53300
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_020639.3(RIPK4):c.1548C>T (p.Asp516=) rs2838113 0.53199
NM_003632.3(CNTNAP1):c.1736-22G>A rs3760386 0.53157
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_000135.4(FANCA):c.596+74G>A rs1800285 0.52593
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_001982.4(ERBB3):c.234+8A>T rs2271194 0.52361
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_182961.4(SYNE1):c.3505-39A>C rs502268 0.51916
NM_000135.4(FANCA):c.2222+107T>C rs886951 0.51679
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg) rs2235624 0.51194
NM_001429.4(EP300):c.4453-23T>C rs2076577 0.51146
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_000135.4(FANCA):c.2222+100A>G rs886950 0.51061
NM_001164508.2(NEB):c.10452+71T>C rs10186482 0.50955
NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=) rs2304154 0.50722
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_000135.4(FANCA):c.1471-119A>T rs12448860 0.50554
NM_012398.3(PIP5K1C):c.1345+25C>T rs12460780 0.50552
NM_000135.4(FANCA):c.1715+82T>C rs1800335 0.50497
NM_033116.6(NEK9):c.300T>A (p.Ile100=) rs175449 0.50389
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000135.4(FANCA):c.1826+99T>A rs7187436 0.50149
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg) rs8069834 0.50046
NM_182961.4(SYNE1):c.9147-13G>A rs214955 0.49738
NM_004826.4(ECEL1):c.2229-29A>C rs2741279 0.49585
NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=) rs8409 0.49265
NM_004625.4(WNT7A):c.298+37C>A rs3749319 0.48979
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_182961.4(SYNE1):c.12795-12A>G rs9478314 0.48867
NM_182961.4(SYNE1):c.8177+20A>T rs214943 0.48837
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_020754.4(ARHGAP31):c.1926+11T>C rs1463138 0.48304
NM_182961.4(SYNE1):c.17346+38C>T rs9371581 0.48251
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_178565.5(RSPO2):c.616+42_616+43dup rs3039298 0.47825
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_020754.4(ARHGAP31):c.100+77A>T rs3732412 0.47316
NM_014176.4(UBE2T):c.15A>G (p.Ser5=) rs14451 0.47315
NM_182961.4(SYNE1):c.7713-49G>A rs214944 0.47302
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_000135.4(FANCA):c.1471-73G>A rs2239360 0.45821
NM_182961.4(SYNE1):c.9651+47C>T rs1873176 0.45478
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_000135.4(FANCA):c.596+143T>G rs11076627 0.45367
NM_001793.6(CDH3):c.160+117G>A rs2236393 0.44521
NM_002532.6(NUP88):c.2172T>C (p.His724=) rs11209 0.44165
NM_182961.4(SYNE1):c.7029+45T>C rs177330 0.43899
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_001793.6(CDH3):c.247-38A>G rs1952048 0.43462
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_033116.6(NEK9):c.324C>T (p.His108=) rs8017642 0.42590
NM_002532.6(NUP88):c.2157A>G (p.Lys719=) rs1071705 0.42492
NM_002532.6(NUP88):c.1292-19G>A rs1806240 0.42485
NM_002532.6(NUP88):c.1836-38G>T rs748486 0.42467
NM_002532.6(NUP88):c.1389A>T (p.Pro463=) rs14231 0.42466
NM_002532.6(NUP88):c.1916+3C>T rs739768 0.42452
NM_002532.6(NUP88):c.1916+25T>G rs739767 0.42442
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_016111.4(TELO2):c.2226+38A>G rs11248882 0.42009
NM_020639.3(RIPK4):c.2331G>A (p.Thr777=) rs7276592 0.41978
NM_020639.3(RIPK4):c.1476G>A (p.Ala492=) rs3746893 0.41949
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_020639.3(RIPK4):c.1203C>T (p.Gly401=) rs3746894 0.41922
NM_000900.5(MGP):c.304A>G (p.Thr102Ala) rs4236 0.41895
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg) rs2248128 0.41062
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_017617.5(NOTCH1):c.1442-43C>T rs9411254 0.40689
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_001113525.2(ZNF276):c.*1323G>A rs1061646 0.40513
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_020754.4(ARHGAP31):c.1926+89T>A rs12636976 0.38289
NM_182961.4(SYNE1):c.1351-24A>T rs4331993 0.38135
NM_020639.3(RIPK4):c.1005G>T (p.Leu335=) rs2277789 0.38050
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_000136.3(FANCC):c.521+109A>G rs3737142 0.37815
NM_015425.6(POLR1A):c.2634+22T>C rs2289239 0.37666
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_016111.4(TELO2):c.2415T>C (p.Ala805=) rs3180228 0.37206
NM_001278689.2(EOGT):c.1084-19C>T rs4855541 0.37167
NM_015425.6(POLR1A):c.4273-26A>C rs2278536 0.36818
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_001378183.1(PIEZO2):c.7190+29A>G rs11661737 0.36619
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.36580
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_001378183.1(PIEZO2):c.6976-47G>C rs868525 0.36451
NM_001378183.1(PIEZO2):c.7349+7C>T rs3748422 0.36363
NM_020812.4(DOCK6):c.5361+4C>T rs3745682 0.36094
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_006147.4(IRF6):c.459G>T (p.Ser153=) rs2013162 0.35925
NM_004826.4(ECEL1):c.1507-30G>C rs6750085 0.35871
NM_020812.4(DOCK6):c.3894+19G>A rs4804150 0.35804
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_139284.3(LGI4):c.1203A>G (p.Thr401=) rs1319969 0.35140
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_139284.3(LGI4):c.*11G>A rs11084800 0.34468
NM_139284.3(LGI4):c.1395G>A (p.Gln465=) rs12610234 0.34308
NM_139284.3(LGI4):c.1396C>T (p.Leu466=) rs12610146 0.34294
NM_139284.3(LGI4):c.834G>C (p.Pro278=) rs1687998 0.34261
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_001982.4(ERBB3):c.3129+9A>C rs2292238 0.33347
NM_006147.4(IRF6):c.175-5C>G rs7552506 0.32118
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_139284.3(LGI4):c.459-33G>A rs1688001 0.31837
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) rs6021437 0.31314
NM_001321120.2(TBX4):c.402-8G>A rs758596 0.31194
NM_001278689.2(EOGT):c.465A>G (p.Arg155=) rs6781612 0.31041
NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=) rs2271189 0.30797
NM_016653.3(MAP3K20):c.445-37A>G rs2289399 0.30550
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile) rs7234309 0.30463
NM_020754.4(ARHGAP31):c.1070-92G>C rs10511390 0.30391
NM_058216.3(RAD51C):c.904+34T>C rs28363318 0.30375
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_020436.5(SALL4):c.1056G>A (p.Ala352=) rs13038893 0.29998
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_002532.6(NUP88):c.468-38G>T rs1806263 0.29804
NM_001164508.2(NEB):c.1675-67C>T rs10193188 0.29744
NM_003334.4(UBA1):c.679-33C>G rs4239963 0.29685
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_001164508.2(NEB):c.5763+35T>C rs12620077 0.29408
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) rs2293468 0.29320
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=) rs2277860 0.29299
NM_001164508.2(NEB):c.8160+84G>A rs4664494 0.29054
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_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
NM_173660.5(DOK7):c.332-18T>C rs2699425 0.28202
NM_001378183.1(PIEZO2):c.1379-47T>C rs56112279 0.27943
NM_001378183.1(PIEZO2):c.1528-41T>C rs6505594 0.27928
NM_001164508.2(NEB):c.19314+42C>T rs2288206 0.27894
NM_001079520.2(DACT1):c.1280C>T (p.Ala427Val) rs17832998 0.27873
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839 0.27694
NM_017988.6(SCYL2):c.2167C>T (p.Leu723=) rs10860580 0.27673
NM_018124.4(RFWD3):c.1755-33G>A rs11149759 0.27669
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=) rs3748421 0.27525
NM_002010.3(FGF9):c.381+17C>T rs2274296 0.27243
NM_001164508.2(NEB):c.18366+78T>C rs7602715 0.27138
NM_001003722.2(GLE1):c.1647-44A>G rs3763600 0.26906
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) rs2275260 0.26894
NM_182961.4(SYNE1):c.130-25C>T rs2141152 0.26785
NM_001278689.2(EOGT):c.210+5G>A rs56761230 0.26744
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=) rs7227022 0.26688
NM_001164508.2(NEB):c.5763+281G>A rs12616767 0.26661
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_001164508.2(NEB):c.16909-168C>T rs3771901 0.26318
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.24393+60A>C rs10497081 0.26227
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_001164508.2(NEB):c.24874-47A>T rs2288193 0.26026
NM_016653.3(MAP3K20):c.1032+39G>A rs16861404 0.26026
NM_002010.3(FGF9):c.278-14C>T rs3818460 0.25974
NM_001378183.1(PIEZO2):c.7349+31A>C rs3748423 0.25652
NM_001164508.2(NEB):c.25405-34T>C rs16830090 0.25362
NM_001164508.2(NEB):c.17535+90A>G rs3732312 0.24731
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001164508.2(NEB):c.18156+222T>A rs12052998 0.24703
NM_002653.5(PITX1):c.896G>C (p.Gly299Ala) rs479632 0.24653
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_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_017988.6(SCYL2):c.177+35C>A rs7965910 0.23219
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_017988.6(SCYL2):c.1096-23T>A rs7968030 0.22967
NM_012243.3(SLC35A3):c.357A>G (p.Leu119=) rs534252 0.22875
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22729
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_016111.4(TELO2):c.2227-39C>T rs3736721 0.22446
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_139284.3(LGI4):c.*10C>T rs3826989 0.22206
NM_002465.4(MYBPC1):c.1634-18del rs3835190 0.22202
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_001003722.2(GLE1):c.*73G>A rs10760563 0.20436
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) rs764291 0.20383
NM_001164508.2(NEB):c.4611+70T>C rs58903550 0.20373
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001378183.1(PIEZO2):c.2947-36G>A rs7507093 0.20120
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) rs4796901 0.20035
NM_001164508.2(NEB):c.11289+99G>A rs62174707 0.19979
NM_002968.3(SALL1):c.3456C>T (p.His1152=) rs11645288 0.19907
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
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_001164508.2(NEB):c.5031+48A>G rs4664496 0.18844
NM_001164508.2(NEB):c.8161-118A>T rs35172004 0.18143
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=) rs33969260 0.17467
NM_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_003282.4(TNNI2):c.186+26G>A rs2271441 0.17441
NM_001278689.2(EOGT):c.912T>C (p.Tyr304=) rs13085120 0.15363
NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=) rs2305249 0.15274
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) rs3817552 0.14585
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_020639.3(RIPK4):c.360A>C (p.Arg120=) rs13049286 0.13916
NM_020639.3(RIPK4):c.327T>C (p.Ala109=) rs2277791 0.13904
NM_018668.5(VPS33B):c.1105+9C>T rs3826033 0.13431
NM_003334.4(UBA1):c.1340G>A (p.Arg447His) rs2070169 0.13373
NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=) rs61740281 0.13242
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_001330677.2(TBX15):c.466C>A (p.His156Asn) rs10494217 0.13004
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_001164508.2(NEB):c.7957-152C>T rs28375835 0.12498
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_017617.5(NOTCH1):c.6180+44T>C rs9632944 0.12085
NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=) rs3732414 0.11988
NM_000135.4(FANCA):c.1006+112G>A rs17226075 0.11964
NM_000135.4(FANCA):c.1083+120G>A rs17226159 0.11919
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_000135.4(FANCA):c.2602-36G>T rs2159116 0.11784
NM_001164508.2(NEB):c.12018+29G>A rs11902616 0.11589
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_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.*57C>T rs45617144 0.10726
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_001330677.2(TBX15):c.1710C>T (p.Ser570=) rs12569041 0.09675
NM_001164508.2(NEB):c.6184-14T>A rs10173335 0.09664
NM_182961.4(SYNE1):c.17202+24G>A rs12662994 0.09437
NM_002334.4(LRP4):c.1309+24G>A rs3751097 0.08895
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu) rs1206038 0.08528
NM_020754.4(ARHGAP31):c.-38C>A rs72960626 0.08337
NM_001271938.2(MEGF8):c.1934-7T>C rs1206044 0.08176
NM_017617.5(NOTCH1):c.3171+42G>A rs11145765 0.08084
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_020754.4(ARHGAP31):c.540-6C>T rs16829782 0.06792
NM_020754.4(ARHGAP31):c.432-100T>A rs73187863 0.06662
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_020754.4(ARHGAP31):c.881+7G>A rs78837524 0.05414
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001003722.2(GLE1):c.99+29C>G rs56164320 0.04523
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_012243.3(SLC35A3):c.-19+415A>G rs11166383 0.03792
NM_002465.4(MYBPC1):c.3492+39C>T rs35621105 0.03732
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_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_001330677.2(TBX15):c.1477C>G (p.Pro493Ala) rs17022678 0.02867
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_133433.4(NIPBL):c.4561-16C>T rs115403650 0.02404
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=) rs77678258 0.02008
NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu) rs61744178 0.01996
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=) rs61747387 0.01984
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=) rs61744411 0.01720
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_020754.4(ARHGAP31):c.682+19A>C rs72966429 0.01642
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_001330677.2(TBX15):c.519C>T (p.Tyr173=) rs61730013 0.01515
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_020754.4(ARHGAP31):c.432-7A>G rs10049221 0.00871
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00778
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954 0.00648
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834 0.00602
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr) rs61744168 0.00542
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=) rs150339878 0.00503
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_020754.4(ARHGAP31):c.1597G>A (p.Gly533Arg) rs75764457 0.00387
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_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092 0.00319
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535 0.00307
NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=) rs145326425 0.00294
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00291
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_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_133433.4(NIPBL):c.3502+17A>C rs144725401 0.00230
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00207
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318 0.00200
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968 0.00173
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu) rs61744410 0.00172
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_017617.5(NOTCH1):c.865+18C>T rs55677618 0.00133
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566 0.00113
NM_001330677.2(TBX15):c.861+14C>G rs192074581 0.00111
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) rs186621177 0.00105
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=) rs61746581 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784 0.00086
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) rs140907869 0.00077
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00073
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_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278 0.00069
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_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533 0.00062
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094 0.00056
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_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371 0.00051
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273 0.00047
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532 0.00046
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00045
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677 0.00045
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581 0.00044
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200 0.00043
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644 0.00032
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met) rs3796360 0.00031
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
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.1689C>T (p.Cys563=) rs760548976 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_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678 0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=) rs201036501 0.00010
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253 0.00008
NM_001164508.2(NEB):c.2475C>T (p.Asp825=) rs180881237 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00006
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588 0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640 0.00004
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00003
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) rs544653892 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928 0.00003
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856 0.00002
NM_017617.5(NOTCH1):c.3171+8C>T rs985717588 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) rs531156367 0.00002
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850 0.00001
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) rs1367699274 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) rs374789141 0.00001
NM_017617.5(NOTCH1):c.743-14C>T rs536768165 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_182895.5(SCARF2):c.2181C>G (p.Pro727=) rs1171701467 0.00001
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.43+59G>T rs7560774
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_001003722.2(GLE1):c.1242+30G>T rs869455
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001113525.2(ZNF276):c.*607A>G rs1800359
NM_001164508.2(NEB):c.10872+27A>C rs10186656
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001271938.2(MEGF8):c.7136+12C>T rs375712517
NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg) rs61730011
NM_001374353.1(GLI2):c.643+16C>G rs6718382
NM_001378183.1(PIEZO2):c.2170-19_2170-18del rs11468237
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001793.6(CDH3):c.2281-45A>C rs3114409
NM_001982.4(ERBB3):c.2616+16G>C rs76079275
NM_002334.4(LRP4):c.3536+22C>A rs964551
NM_002334.4(LRP4):c.3700-21C>G rs2306032
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.2682+30_2682+31del rs34274020
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114
NM_004260.4(RECQL4):c.2296del (p.Arg766fs) rs1827625671
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005592.4(MUSK):c.920+25del rs147974075
NM_006147.4(IRF6):c.667+27C>G rs2235375
NM_006265.3(RAD21):c.274+26GTT[5] rs112562183
NM_006757.4(TNNT3):c.107-134T>G rs2292473
NM_012398.3(PIP5K1C):c.684G>A (p.Ser228=) rs2074957
NM_016111.4(TELO2):c.2407+77A>T rs12927760
NM_016111.4(TELO2):c.933+11del rs11344586
NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu) rs3769148
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
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.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_020639.3(RIPK4):c.630G>C (p.Ala210=) rs2838114
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.4(FANCF):c.-10C>T rs3740615
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_173660.5(DOK7):c.220= (p.Leu74=) rs4325970
NM_178565.5(RSPO2):c.557T>C (p.Leu186Pro) rs601558
NM_181789.4(GLDN):c.794G>A (p.Ser265Asn) rs17648128
NM_182895.5(SCARF2):c.2187G>C (p.Glu729Asp) rs762551525
NM_182895.5(SCARF2):c.2236dup (p.Arg746fs) rs2146119376
NM_182895.5(SCARF2):c.2247C>G (p.Gly749=) rs1421018530
NM_182895.5(SCARF2):c.2248dup (p.Leu750fs) rs2146119293
NM_182895.5(SCARF2):c.2287dup (p.Ala763fs) rs2146119159
NM_182961.4(SYNE1):c.11254-31T>G rs6932325
NM_182961.4(SYNE1):c.11581-15dup rs5880967
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579

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