ClinVar Miner

List of variants reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3711
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299 0.99986
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) rs904783 0.99962
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_002775.5(HTRA1):c.1274+8G>A rs2672586 0.99939
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_198241.3(EIF4G1):c.481A>G (p.Thr161Ala) rs13319149 0.99790
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_017449.5(EPHB2):c.1545T>C (p.Gly515=) rs309472 0.99598
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99030
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_006907.4(PYCR1):c.903A>G (p.Ser301=) rs61747618 0.98394
NM_003105.6(SORL1):c.5899G>A (p.Val1967Ile) rs1792120 0.98324
NM_003105.6(SORL1):c.3460+12T>C rs1792126 0.98291
NM_003105.6(SORL1):c.3220C>G (p.Gln1074Glu) rs1699107 0.98285
NM_001044.5(SLC6A3):c.1498+14A>G rs429699 0.98180
NM_018206.6(VPS35):c.1938C>T (p.His646=) rs168745 0.97484
NM_004385.5(VCAN):c.9882C>T (p.Val3294=) rs308365 0.97301
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_003085.5(SNCB):c.121+6T>C rs4868669 0.97242
NM_001379500.1(COL18A1):c.107-12592T>C rs914230 0.96979
NM_198578.4(LRRK2):c.149G>A (p.Arg50His) rs2256408 0.96952
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=) rs6434312 0.96092
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_001173467.3(SP7):c.1128T>C (p.His376=) rs7138938 0.95333
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_004562.3(PRKN):c.413-20T>C rs4709583 0.94349
NM_020702.5(MYORG):c.159C>G (p.Asp53Glu) rs4879781 0.94274
NM_152281.3(GORAB):c.21A>C (p.Gly7=) rs7531125 0.93522
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552 0.93088
NM_003085.5(SNCB):c.-9-142G>A rs6879864 0.92583
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_053025.4(MYLK):c.1804+8C>T rs820355 0.91605
NM_001853.4(COL9A3):c.1603+14G>C rs910152 0.91538
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) rs584961 0.91533
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619 0.90508
NM_001173467.3(SP7):c.1098C>T (p.Ser366=) rs7139272 0.90326
NM_003054.6(SLC18A2):c.700+15C>T rs2072362 0.90152
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_019032.6(ADAMTSL4):c.2442T>C (p.Asn814=) rs10888382 0.87842
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) rs3219156 0.86916
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
NM_199355.4(ADAMTS18):c.1341T>C (p.Asp447=) rs8059275 0.86770
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_014694.4(ADAMTSL2):c.683-12T>G rs9802778 0.85656
NM_014694.4(ADAMTSL2):c.840A>T (p.Ala280=) rs2073875 0.85265
NM_014694.4(ADAMTSL2):c.774C>T (p.Asp258=) rs2073874 0.85257
NM_014694.4(ADAMTSL2):c.859A>C (p.Arg287=) rs2073876 0.85254
NM_014694.4(ADAMTSL2):c.939+11C>T rs2073878 0.85229
NM_019032.6(ADAMTSL4):c.2484G>A (p.Pro828=) rs10749657 0.85136
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_032409.3(PINK1):c.960-5G>A rs3131713 0.83971
NM_032409.3(PINK1):c.388-7A>G rs2298298 0.83839
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_002335.4(LRP5):c.1647T>C (p.Phe549=) rs545382 0.83202
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val) rs2178403 0.80731
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_198241.3(EIF4G1):c.3953+9A>G rs939317 0.80145
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721 0.79500
NM_001844.5(COL2A1):c.654+15T>G rs1034762 0.79333
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_182943.3(PLOD2):c.338+4G>A rs4681297 0.77857
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_024306.5(FA2H):c.879C>T (p.Pro293=) rs2301865 0.77852
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_001853.4(COL9A3):c.1740T>C (p.Pro580=) rs2294995 0.75903
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638 0.75672
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75596
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_001844.5(COL2A1):c.85+18C>G rs3803184 0.75547
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_001457.4(FLNB):c.4173A>G (p.Ala1391=) rs2362903 0.72429
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652 0.70543
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=) rs1427263 0.70218
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=) rs4582839 0.69474
NM_001103146.3(GIGYF2):c.2940A>G (p.Gln980=) rs3816334 0.69457
NM_001103146.3(GIGYF2):c.3684+15G>A rs6437074 0.69433
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met) rs1136287 0.69033
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) rs1009382 0.68787
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613 0.68304
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_001177693.2(ARHGEF28):c.1680A>G (p.Ser560=) rs2973568 0.67364
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=) rs862031 0.67247
NM_001103146.3(GIGYF2):c.3461-9G>A rs2305137 0.66032
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644 0.65175
NM_015909.4(NBAS):c.514-11C>T rs10208972 0.64424
NM_015909.4(NBAS):c.287+20_287+21insT rs34789730 0.64408
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_002775.5(HTRA1):c.1274+14G>A rs2272599 0.63755
NM_001457.4(FLNB):c.6889-18G>A rs12634123 0.62957
NM_015909.4(NBAS):c.2223G>A (p.Leu741=) rs7590340 0.62925
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_015909.4(NBAS):c.1386A>G (p.Arg462=) rs13014906 0.62509
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.62158
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863 0.61824
NM_015268.4(DNAJC13):c.4387G>T (p.Ala1463Ser) rs3762672 0.61651
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_015268.4(DNAJC13):c.2550-9A>T rs2369796 0.61432
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_015909.4(NBAS):c.1148-9G>C rs1990755 0.61252
NM_015909.4(NBAS):c.1242T>C (p.Ser414=) rs1990754 0.61213
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly) rs874101 0.60739
NM_001177693.2(ARHGEF28):c.945T>C (p.Ala315=) rs7716253 0.60447
NM_000041.4(APOE):c.-24+69C>G rs440446 0.60398
NM_015909.4(NBAS):c.1147+11C>T rs1125534 0.60275
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459 0.58812
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_001164760.2(PRKAR1B):c.892-18G>C rs71518309 0.58543
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_001854.4(COL11A1):c.2611-19A>C rs11164649 0.57301
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=) rs11176013 0.56443
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=) rs10878371 0.56374
NM_001853.4(COL9A3):c.1008+10C>T rs6062700 0.56099
NM_001177693.2(ARHGEF28):c.851C>A (p.Pro284Gln) rs6453022 0.55954
NM_002335.4(LRP5):c.3357G>A (p.Val1119=) rs556442 0.55735
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_015909.4(NBAS):c.727A>G (p.Ile243Val) rs13029846 0.52998
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys) rs913257 0.52780
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_003105.6(SORL1):c.807T>C (p.His269=) rs12364988 0.50919
NM_198578.4(LRRK2):c.457T>C (p.Leu153=) rs10878245 0.50692
NM_015909.4(NBAS):c.1964A>G (p.Lys655Arg) rs4668909 0.50682
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_025233.7(COASY):c.164C>A (p.Ser55Tyr) rs615942 0.49854
NM_025233.7(COASY):c.972A>G (p.Thr324=) rs598126 0.49440
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240 0.48653
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_002335.4(LRP5):c.884-4T>C rs314776 0.48379
NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) rs2228422 0.47995
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) rs216123 0.46517
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_005204.4(MAP3K8):c.234T>C (p.Tyr78=) rs1042058 0.45386
NM_005235.3(ERBB4):c.1490-15T>C rs4673628 0.45282
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44697
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=) rs4325172 0.44325
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.44044
NM_001164760.2(PRKAR1B):c.846T>C (p.Ile282=) rs3211362 0.43881
NM_013254.4(TBK1):c.978T>A (p.Ile326=) rs7486100 0.43650
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala) rs57285449 0.43349
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) rs1050351 0.43308
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_001177693.2(ARHGEF28):c.673T>C (p.Trp225Arg) rs7714670 0.42107
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_001177693.2(ARHGEF28):c.1024+12C>T rs2973548 0.41313
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile) rs11107 0.40992
NM_012179.4(FBXO7):c.949C>T (p.Leu317=) rs9726 0.40979
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640 0.40719
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=) rs651581 0.40105
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668 0.39054
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_182894.3(VSX2):c.471C>T (p.Ser157=) rs35435463 0.38441
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg) rs1135056 0.38283
NM_002609.4(PDGFRB):c.3137+4A>G rs246391 0.38064
NM_001853.4(COL9A3):c.1288-5T>C rs741758 0.38028
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454 0.37692
NM_001177693.2(ARHGEF28):c.4920T>A (p.His1640Gln) rs1478453 0.37320
NM_030777.4(SLC2A10):c.1547+18T>G rs2425906 0.37194
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388 0.36918
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_006371.5(CRTAP):c.1044G>A (p.Ser348=) rs1135128 0.36102
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=) rs1135127 0.36088
NM_001235.5(SERPINH1):c.693C>T (p.Thr231=) rs649257 0.36061
NM_001235.5(SERPINH1):c.1011G>A (p.Leu337=) rs585821 0.35953
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) rs650241 0.35781
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_018993.4(RIN2):c.1818C>T (p.His606=) rs2076584 0.35224
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_199355.4(ADAMTS18):c.1876T>A (p.Leu626Ile) rs11640912 0.34557
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213 0.33886
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_024306.5(FA2H):c.229C>T (p.Leu77=) rs929881 0.33281
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212 0.33047
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829 0.32945
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) rs6347 0.32752
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_198578.4(LRRK2):c.1102-10C>A rs7955902 0.31995
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251 0.30715
NM_001044.5(SLC6A3):c.419-12C>A rs460000 0.30619
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614 0.30495
NM_001852.4(COL9A2):c.977A>G (p.Gln326Arg) rs2228564 0.29671
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg) rs2254562 0.29094
NM_001177693.2(ARHGEF28):c.2283C>T (p.Gly761=) rs2931423 0.28939
NM_001177693.2(ARHGEF28):c.2338C>A (p.His780Asn) rs2973558 0.28922
NM_003105.6(SORL1):c.4752T>A (p.Ala1584=) rs3824968 0.28786
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_001177693.2(ARHGEF28):c.4948+11554C>T rs423333 0.28179
NM_203446.3(SYNJ1):c.3518-7G>T rs2833929 0.28042
NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His) rs11643211 0.27809
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr) rs11564148 0.26687
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=) rs10878405 0.26650
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395 0.26470
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_005235.3(ERBB4):c.3195A>G (p.Val1065=) rs3748962 0.25809
NM_001844.5(COL2A1):c.762+15G>A rs10875716 0.25696
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) rs751557 0.25404
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328 0.25319
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_001256864.2(DNAJC6):c.544-9C>T rs2296481 0.25003
NM_006262.4(PRPH):c.1107A>G (p.Lys369=) rs73112143 0.24810
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_182943.3(PLOD2):c.1500+12A>G rs73010484 0.23989
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_001177693.2(ARHGEF28):c.1631C>T (p.Ser544Leu) rs2973571 0.23875
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480 0.23682
NM_001853.4(COL9A3):c.1008+12G>C rs114458036 0.23628
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) rs10485183 0.23388
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282 0.23173
NM_001177693.2(ARHGEF28):c.1754G>A (p.Arg585Lys) rs2973566 0.23152
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_003105.6(SORL1):c.3561T>G (p.Ser1187=) rs2070045 0.22032
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His) rs2258689 0.21570
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_001851.6(COL9A1):c.89-12T>C rs12210123 0.20825
NM_018325.5(C9orf72):c.870C>T (p.Ser290=) rs10122902 0.20696
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638 0.20408
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222 0.20277
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221 0.20236
NM_001844.5(COL2A1):c.1366-11C>T rs10875714 0.20215
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_001372574.1(ATXN2):c.3043-12G>A rs2073950 0.19844
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_001177693.2(ARHGEF28):c.964-7C>T rs73118524 0.19341
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_012179.4(FBXO7):c.122+272T>G rs8137714 0.19102
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18464
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583 0.18423
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_006371.5(CRTAP):c.534C>T (p.Asp178=) rs4076086 0.18059
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_000478.6(ALPL):c.862+20G>T rs2275377 0.17895
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro) rs1800866 0.17661
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17114
NM_198241.3(EIF4G1):c.4005C>T (p.His1335=) rs2230571 0.17039
NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp) rs2287926 0.16841
NM_203446.3(SYNJ1):c.3588+14C>T rs11702774 0.16837
NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=) rs12328151 0.16825
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_001851.6(COL9A1):c.1230+12T>C rs6935778 0.15856
NM_024306.5(FA2H):c.888A>G (p.Val296=) rs11554621 0.15840
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.15471
NM_006371.5(CRTAP):c.213G>A (p.Leu71=) rs11558338 0.15448
NM_032409.3(PINK1):c.189C>T (p.Leu63=) rs45530340 0.15436
NM_018993.4(RIN2):c.589T>A (p.Ser197Thr) rs3803981 0.15165
NM_002335.4(LRP5):c.1412+8G>A rs4988319 0.15090
NM_001164760.2(PRKAR1B):c.1014T>C (p.Thr338=) rs11545042 0.15052
NM_016516.3(VPS54):c.2736G>T (p.Met912Ile) rs11558741 0.14985
NM_001853.4(COL9A3):c.2044C>A (p.Arg682=) rs1048100 0.14832
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.14782
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=) rs17652121 0.14693
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala) rs62063787 0.14671
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu) rs63750417 0.14668
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn) rs62063786 0.14666
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.14666
NM_001377265.1(MAPT):c.1732+2342T>C rs62063845 0.14662
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_001377265.1(MAPT):c.220+18C>T rs75242405 0.14617
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_001852.4(COL9A2):c.630+13G>T rs3737815 0.14424
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) rs17651549 0.14348
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) rs12483761 0.14219
NM_003105.6(SORL1):c.3581-18C>G rs73595277 0.14218
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=) rs76696028 0.13779
NM_172341.4(PSENEN):c.61+17G>C rs10402601 0.13695
NM_001097577.3(ANG):c.330T>G (p.Gly110=) rs11701 0.13321
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_001177693.2(ARHGEF28):c.3018C>T (p.Tyr1006=) rs3749645 0.13300
NM_017449.5(EPHB2):c.1377G>A (p.Pro459=) rs2229872 0.13268
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=) rs34582040 0.13147
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740 0.13145
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=) rs2229697 0.13143
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_001288705.3(CSF1R):c.1626+7C>T rs34928010 0.13020
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_001853.4(COL9A3):c.909G>A (p.Pro303=) rs2249903 0.12661
NM_014694.4(ADAMTSL2):c.309+16G>T rs13283227 0.12632
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734 0.12411
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_001734.5(C1S):c.356G>A (p.Arg119His) rs12146727 0.12113
NM_001854.4(COL11A1):c.4608+18A>G rs17127203 0.12045
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_016516.3(VPS54):c.636T>C (p.Tyr212=) rs17028275 0.11483
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_014694.4(ADAMTSL2):c.900C>T (p.Ile300=) rs2073877 0.10895
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_000053.4(ATP7B):c.2866-13G>C rs7325983 0.10642
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=) rs63750222 0.10563
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_015268.4(DNAJC13):c.246T>G (p.Thr82=) rs11917172 0.09991
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_001852.4(COL9A2):c.1003C>G (p.Leu335Val) rs2228567 0.09793
NM_024306.5(FA2H):c.1039+8T>C rs6564160 0.09790
NM_080680.3(COL11A2):c.1179+10G>A rs2744507 0.09775
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser) rs17769294 0.09705
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=) rs13046486 0.09402
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_003105.6(SORL1):c.5685G>A (p.Lys1895=) rs17125548 0.09153
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440 0.09078
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=) rs7966550 0.08994
NM_198241.3(EIF4G1):c.3325+16C>T rs2293605 0.08976
NM_015268.4(DNAJC13):c.4885-18G>A rs62292959 0.08958
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084 0.08811
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_000096.4(CP):c.394+20C>T rs17847023 0.08668
NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) rs10079250 0.08472
NM_001852.4(COL9A2):c.364-20A>G rs78091688 0.08404
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_203446.3(SYNJ1):c.1201-3A>T rs844988 0.08382
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His) rs12211410 0.08362
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) rs3219161 0.08298
NM_024306.5(FA2H):c.933T>C (p.Tyr311=) rs11554620 0.08207
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_001854.4(COL11A1):c.1308+19A>G rs34587338 0.08015
NM_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) rs2305138 0.07960
NM_001613.4(ACTA2):c.370-19T>C rs714887 0.07944
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_003560.4(PLA2G6):c.209+16C>T rs2267368 0.07814
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_001851.6(COL9A1):c.1071T>C (p.Arg357=) rs607156 0.07381
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=) rs2230766 0.07370
NM_001852.4(COL9A2):c.1793-17T>C rs6674856 0.07350
NM_003560.4(PLA2G6):c.87G>A (p.Val29=) rs2267369 0.07176
NM_001852.4(COL9A2):c.1368+16A>G rs6684531 0.07104
NM_001613.4(ACTA2):c.369+30G>C rs12242191 0.07091
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) rs59371099 0.06827
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) rs34764749 0.06739
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_003105.6(SORL1):c.1582G>A (p.Ala528Thr) rs2298813 0.06616
NM_002335.4(LRP5):c.2318+6T>C rs4988322 0.06393
NM_002335.4(LRP5):c.1932G>A (p.Glu644=) rs2277268 0.06342
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_015268.4(DNAJC13):c.4157-13T>G rs78526588 0.06240
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.05959
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_001365276.2(TNXB):c.904A>G (p.Thr302Ala) rs1150752 0.05885
NM_006493.4(CLN5):c.173+18C>T rs112141862 0.05807
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05622
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350 0.05616
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_001844.5(COL2A1):c.4075-14C>G rs12721425 0.05398
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_013352.4(DSE):c.1142T>C (p.Val381Ala) rs41313440 0.05356
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474 0.05277
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_003105.6(SORL1):c.2499A>T (p.Thr833=) rs78274293 0.05195
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728 0.04973
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04852
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_001365276.2(TNXB):c.9699T>C (p.His3233=) rs61740337 0.04721
NM_001177693.2(ARHGEF28):c.823A>C (p.Arg275=) rs10473959 0.04709
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr) rs3738136 0.04637
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_005022.4(PFN1):c.334C>T (p.Leu112=) rs13204 0.04611
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) rs79953286 0.04591
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651 0.04577
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_001851.6(COL9A1):c.876+13C>T rs117215769 0.04499
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_152383.5(DIS3L2):c.2187C>T (p.Pro729=) rs75782436 0.04483
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_000311.5(PRNP):c.351A>G (p.Ala117=) rs8124214 0.04369
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_001852.4(COL9A2):c.738+10T>C rs56326652 0.04354
NM_025233.7(COASY):c.1486-5C>G rs74886553 0.04354
NM_002775.5(HTRA1):c.778-20G>A rs74159166 0.04347
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04299
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_198241.3(EIF4G1):c.3698T>C (p.Leu1233Pro) rs2230570 0.04275
NM_000302.4(PLOD1):c.644-17T>G rs41307745 0.04239
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_001110556.2(FLNA):c.374-19G>A rs2070817 0.04163
NM_001029896.2(WDR45):c.235+18G>T rs55727094 0.04158
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_001854.4(COL11A1):c.1413+18A>T rs17461252 0.04131
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_001278293.3(ARL6):c.186-18T>C rs77906443 0.04049
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=) rs6676013 0.03985
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_001382430.1(AKT1):c.604C>T (p.Leu202=) rs2230506 0.03899
NM_001852.4(COL9A2):c.792+16C>T rs77550258 0.03883
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_003072.5(SMARCA4):c.356-14A>G rs111447132 0.03865
NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly) rs78992879 0.03856
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=) rs61734875 0.03735
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser) rs35232724 0.03714
NM_015268.4(DNAJC13):c.5560+4A>T rs80120242 0.03703
NM_001177693.2(ARHGEF28):c.4642C>T (p.Pro1548Ser) rs17634865 0.03691
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) rs148871409 0.03666
NM_177438.3(DICER1):c.4680G>A (p.Ala1560=) rs61729797 0.03654
NM_144596.4(TTC8):c.1432-12T>C rs79747892 0.03653
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_177438.3(DICER1):c.3033G>A (p.Ala1011=) rs8019857 0.03643
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_002474.3(MYH11):c.5172-14C>T rs34839877 0.03595
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03590
NM_001177693.2(ARHGEF28):c.4388G>A (p.Arg1463Gln) rs17634853 0.03585
NM_002691.4(POLD1):c.971-12C>T rs1673044 0.03582
NM_002608.4(PDGFB):c.160+15C>A rs17303681 0.03571
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_014845.6(FIG4):c.2377-20_2377-19insC rs201752617 0.03507
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937 0.03501
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_001711.6(BGN):c.564C>T (p.Ile188=) rs2070933 0.03463
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_021999.5(ITM2B):c.81C>T (p.Leu27=) rs11556899 0.03334
NM_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03327
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_053025.4(MYLK):c.3652+11G>A rs41271437 0.03294
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.03189
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.03166
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) rs56327604 0.03157
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_002137.4(HNRNPA2B1):c.117+4T>C rs41275982 0.03091
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_003072.5(SMARCA4):c.2123+12C>T rs17001090 0.03024
NM_013254.4(TBK1):c.66T>C (p.Asn22=) rs41292019 0.03018
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014 0.03012
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_006129.5(BMP1):c.1766-5C>T rs76809016 0.02982
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000094.4(COL7A1):c.8359-19T>C rs78922394 0.02970
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_001972.4(ELANE):c.390C>T (p.Asn130=) rs17223045 0.02903
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_001852.4(COL9A2):c.1161+10T>A rs117563156 0.02847
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_001903.5(CTNNA1):c.540A>C (p.Leu180=) rs11552054 0.02707
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) rs2838952 0.02704
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser) rs73464035 0.02699
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) rs41338945 0.02627
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_006218.4(PIK3CA):c.1060-18C>A rs3729677 0.02605
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_002691.4(POLD1):c.463+9C>T rs1673046 0.02570
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491 0.02566
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_033028.5(BBS4):c.405+17C>T rs80334351 0.02539
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu) rs9680797 0.02487
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_003105.6(SORL1):c.237G>A (p.Arg79=) rs114331262 0.02453
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663 0.02433
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907 0.02357
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_000222.3(KIT):c.1638A>G (p.Lys546=) rs55986963 0.02258
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_001211.6(BUB1B):c.2856C>T (p.Asp952=) rs1802286 0.02238
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_017696.3(MCM9):c.726G>A (p.Gly242=) rs41292552 0.02226
NM_001844.5(COL2A1):c.3328-20G>T rs73297150 0.02225
NM_002335.4(LRP5):c.3297C>T (p.Asp1099=) rs17149104 0.02225
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_000094.4(COL7A1):c.2314+15G>A rs144483183 0.02210
NM_207122.2(EXT2):c.-31+474G>A rs112082531 0.02206
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036 0.02192
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033 0.02173
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_000141.5(FGFR2):c.1864-17T>G rs3135802 0.02120
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_001164760.2(PRKAR1B):c.984A>G (p.Ala328=) rs28626752 0.02094
NM_001164760.2(PRKAR1B):c.974-8A>C rs28585978 0.02073
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_006258.4(PRKG1):c.888T>C (p.Leu296=) rs113994747 0.02057
NM_004360.5(CDH1):c.1896C>T (p.His632=) rs33969373 0.02054
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_002608.4(PDGFB):c.453C>G (p.Val151=) rs55634318 0.02038
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His) rs41267126 0.02004
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) rs12115733 0.01994
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895 0.01981
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_006059.4(LAMC3):c.1939+11A>G rs73550474 0.01979
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117 0.01973
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
NM_001177693.2(ARHGEF28):c.3753C>T (p.Asp1251=) rs146562116 0.01926
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_006059.4(LAMC3):c.2559C>T (p.Ser853=) rs34652877 0.01902
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
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_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_005546.4(ITK):c.769-10A>T rs55646940 0.01845
NM_005546.4(ITK):c.769-13C>T rs56100638 0.01844
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) rs61753391 0.01829
NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser) rs55825559 0.01828
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_016516.3(VPS54):c.2228+13T>G rs183006584 0.01801
NM_016516.3(VPS54):c.2228+14T>A rs190823081 0.01801
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_000094.4(COL7A1):c.3975+11C>T rs7637885 0.01719
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=) rs17272089 0.01655
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_152296.5(ATP1A3):c.994-20T>G rs138485069 0.01603
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_198241.3(EIF4G1):c.4395+5G>A rs16858676 0.01586
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_053025.4(MYLK):c.1516+16C>T rs77590783 0.01553
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01528
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_001164760.2(PRKAR1B):c.1065C>T (p.Phe355=) rs28488947 0.01504
NM_003105.6(SORL1):c.3814+10T>G rs146197030 0.01503
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_198241.3(EIF4G1):c.4386C>T (p.Asp1462=) rs112718796 0.01477
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_198578.4(LRRK2):c.4317+12del rs200829235 0.01470
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_003105.6(SORL1):c.808G>A (p.Glu270Lys) rs117260922 0.01456
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_014967.5(FAN1):c.1851C>T (p.Ser617=) rs118060760 0.01439
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=) rs9914661 0.01367
NM_001278293.3(ARL6):c.480-8C>T rs77010939 0.01364
NM_001382430.1(AKT1):c.567+14G>A rs3730345 0.01364
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_005544.3(IRS1):c.1534G>C (p.Ala512Pro) rs1801276 0.01357
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr) rs199951144 0.01311
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser) rs80120912 0.01243
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867 0.01233
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_152296.5(ATP1A3):c.2264-16C>T rs149116776 0.01189
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=) rs73001172 0.01166
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_015268.4(DNAJC13):c.282T>G (p.Leu94=) rs116489157 0.01156
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala) rs80019749 0.01155
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_015294.6(TRIM37):c.861-6C>T rs145324030 0.01135
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_017763.6(RNF43):c.2280G>A (p.Pro760=) rs61746279 0.01112
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_002691.4(POLD1):c.2862G>C (p.Thr954=) rs3219440 0.01109
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908 0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=) rs11574425 0.01064
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000043.6(FAS):c.505+16C>T rs3218620 0.01048
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786 0.01047
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_001177693.2(ARHGEF28):c.840+9A>G rs143387976 0.01039
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_022167.4(XYLT2):c.166G>A (p.Asp56Asn) rs113835371 0.01034
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.01024
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.01015
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) rs34951517 0.00996
NM_001903.5(CTNNA1):c.2343A>G (p.Gln781=) rs75050399 0.00996
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_198241.3(EIF4G1):c.4383C>T (p.Phe1461=) rs111921843 0.00983
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys) rs45628035 0.00975
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_005591.4(MRE11):c.1032T>G (p.Leu344=) rs11020793 0.00960
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_177438.3(DICER1):c.1935G>A (p.Pro645=) rs61751177 0.00958
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_006059.4(LAMC3):c.2096G>A (p.Gly699Asp) rs61737720 0.00943
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_018713.3(SLC30A10):c.640+10G>A rs79328219 0.00931
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly) rs35392900 0.00928
NM_015268.4(DNAJC13):c.2292-6G>A rs35575948 0.00927
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_016734.3(PAX5):c.964G>A (p.Ala322Thr) rs34810717 0.00861
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp) rs79702016 0.00855
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_033305.3(VPS13A):c.6880-19G>C rs183040221 0.00852
NM_000400.4(ERCC2):c.477+9A>C rs1799785 0.00851
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841 0.00851
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) rs369149111 0.00841
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg) rs41265094 0.00841
NM_001177693.2(ARHGEF28):c.267G>A (p.Val89=) rs17552682 0.00840
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=) rs61754536 0.00819
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733 0.00809
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_003105.6(SORL1):c.3295T>C (p.Phe1099Leu) rs146903951 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000094.4(COL7A1):c.4483-11T>C rs74390291 0.00781
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) rs117289001 0.00762
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951 0.00755
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) rs111527940 0.00755
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989 0.00747
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001177693.2(ARHGEF28):c.4161+16T>C rs200381893 0.00742
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=) rs41287094 0.00742
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_002354.3(EPCAM):c.77-11T>A rs114241106 0.00733
NM_017763.6(RNF43):c.2261G>C (p.Gly754Ala) rs115553539 0.00733
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_005157.6(ABL1):c.1899C>T (p.Ala633=) rs2229068 0.00732
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_002691.4(POLD1):c.3218+9C>T rs3219448 0.00727
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_177438.3(DICER1):c.4206+17del rs746189044 0.00689
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His) rs61748103 0.00674
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_004606.5(TAF1):c.87C>G (p.Ala29=) rs28382145 0.00668
NM_025103.4(IFT74):c.1735G>A (p.Val579Met) rs138591335 0.00667
NM_025137.4(SPG11):c.2621-15T>G rs188590034 0.00667
NM_017696.3(MCM9):c.2693C>T (p.Ser898Phe) rs3751444 0.00666
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
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_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_017449.5(EPHB2):c.2625A>G (p.Gln875=) rs55993650 0.00638
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_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001613.4(ACTA2):c.455-17G>A rs3816245 0.00636
NM_003332.4(TYROBP):c.94+10G>C rs55746266 0.00630
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00604
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_004385.5(VCAN):c.2887C>T (p.Pro963Ser) rs76914270 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_007356.3(LAMB4):c.350G>C (p.Arg117Thr) rs149874137 0.00583
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_015268.4(DNAJC13):c.2369C>A (p.Ser790Tyr) rs149121829 0.00575
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu) rs6844109 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) rs112223093 0.00560
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_006767.4(LZTR1):c.320+12C>T rs73879461 0.00538
NM_002474.3(MYH11):c.1419G>A (p.Gln473=) rs61734198 0.00535
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974 0.00528
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_005157.6(ABL1):c.2916G>A (p.Ser972=) rs143132804 0.00523
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_198241.3(EIF4G1):c.4551C>T (p.Asp1517=) rs11559218 0.00509
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_015909.4(NBAS):c.711T>C (p.His237=) rs75347158 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=) rs41287102 0.00495
NM_015268.4(DNAJC13):c.3942G>A (p.Pro1314=) rs35658317 0.00494
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) rs140088745 0.00485
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_018112.3(TMEM38B):c.113-7A>G rs186864213 0.00484
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=) rs117082250 0.00481
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_003105.6(SORL1):c.5439T>A (p.His1813Gln) rs62622819 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_006432.5(NPC2):c.190+14G>A rs189666920 0.00476
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_016516.3(VPS54):c.2625+9T>A rs147421356 0.00459
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_015268.4(DNAJC13):c.5855A>C (p.Asn1952Thr) rs61731474 0.00454
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00436
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_005235.3(ERBB4):c.2202A>G (p.Lys734=) rs34926094 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001288705.3(CSF1R):c.1626+13G>A rs115895865 0.00429
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_006262.4(PRPH):c.996+1G>A rs73112142 0.00426
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_002317.7(LOX):c.740+6G>A rs41478244 0.00424
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met) rs114786489 0.00422
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00422
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_015909.4(NBAS):c.3282T>C (p.His1094=) rs139891797 0.00418
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) rs34124953 0.00417
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_012179.4(FBXO7):c.122+9G>A rs192327462 0.00407
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_005235.3(ERBB4):c.882A>G (p.Pro294=) rs77309171 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_014967.5(FAN1):c.1944-4T>C rs200971774 0.00399
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly) rs61748101 0.00396
NM_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=) rs139049819 0.00393
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) rs138683747 0.00390
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_005157.6(ABL1):c.249T>G (p.Thr83=) rs111886835 0.00382
NM_015909.4(NBAS):c.4659+12C>G rs114354862 0.00382
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) rs145406397 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829 0.00372
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_014967.5(FAN1):c.718G>A (p.Glu240Lys) rs150748572 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg) rs80133178 0.00355
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=) rs148054244 0.00353
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=) rs141063383 0.00352
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=) rs75536447 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00340
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly) rs56048668 0.00332
NM_198241.3(EIF4G1):c.2976A>G (p.Pro992=) rs112420733 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser) rs16893137 0.00327
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00321
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=) rs572299080 0.00320
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_000094.4(COL7A1):c.5154+5T>C rs2854400 0.00317
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) rs11538140 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987 0.00293
NM_031157.4(HNRNPA1):c.133-17A>G rs74625894 0.00293
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg) rs199976372 0.00281
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00277
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_001365276.2(TNXB):c.12058+15G>A rs762839811 0.00275
NM_003480.4(MFAP5):c.6G>A (p.Ser2=) rs4132450 0.00272
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) rs76603692 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_001164760.2(PRKAR1B):c.810G>A (p.Ala270=) rs77809618 0.00271
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn) rs143368552 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_004385.5(VCAN):c.9234G>A (p.Glu3078=) rs139453864 0.00270
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=) rs150315143 0.00262
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000311.5(PRNP):c.204T>C (p.Pro68=) rs532493114 0.00260
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala) rs111262341 0.00259
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=) rs41287092 0.00258
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg) rs34549764 0.00257
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) rs141816180 0.00248
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001457.4(FLNB):c.4222+8A>G rs190025781 0.00248
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=) rs55737335 0.00247
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln) rs34916193 0.00245
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=) rs61746872 0.00237
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 0.00236
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_005612.5(REST):c.274G>A (p.Gly92Arg) rs61748753 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_000400.4(ERCC2):c.687C>T (p.Ala229=) rs34021577 0.00234
NM_001379500.1(COL18A1):c.3810-20C>T rs117866003 0.00234
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795 0.00234
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln) rs104893751 0.00233
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=) rs28363488 0.00226
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=) rs76546607 0.00218
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000311.5(PRNP):c.372C>G (p.Gly124=) rs201423990 0.00213
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=) rs10972178 0.00210
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=) rs541251697 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00205
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_152383.5(DIS3L2):c.1740-7T>C rs1160509197 0.00205
NM_006206.6(PDGFRA):c.996C>T (p.Val332=) rs142498442 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001903.5(CTNNA1):c.589-5T>C rs186236339 0.00200
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr) rs150475750 0.00198
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr) rs148679597 0.00196
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) rs3736229 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_198241.3(EIF4G1):c.1796-3C>T rs190378563 0.00193
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) rs148404807 0.00191
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000222.3(KIT):c.2622G>A (p.Pro874=) rs55817813 0.00188
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_000096.4(CP):c.1945G>A (p.Ala649Thr) rs141466225 0.00186
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_006074.5(TRIM22):c.247G>A (p.Glu83Lys) rs200668710 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_080680.3(COL11A2):c.1972-16C>T rs117435723 0.00181
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs) rs749052307 0.00173
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176 0.00170
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_001164760.2(PRKAR1B):c.642C>T (p.Thr214=) rs76061469 0.00166
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000321.3(RB1):c.42C>T (p.Ala14=) rs148980395 0.00162
NM_016525.5(UBAP1):c.1266+6C>T rs117985789 0.00162
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_017763.6(RNF43):c.662G>A (p.Arg221Gln) rs2285990 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_018206.6(VPS35):c.2241C>T (p.Ile747=) rs140543776 0.00159
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 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_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_013254.4(TBK1):c.1110C>T (p.Phe370=) rs143590388 0.00155
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_001164760.2(PRKAR1B):c.708+6T>C rs74939612 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000107.3(DDB2):c.127+5T>G rs199965459 0.00148
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_213720.3(CHCHD10):c.41+7G>A rs141526972 0.00147
NM_018325.5(C9orf72):c.288A>G (p.Ser96=) rs147752518 0.00146
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001457.4(FLNB):c.6741G>A (p.Ser2247=) rs143400214 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_001711.6(BGN):c.111C>T (p.Asn37=) rs145819764 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) rs149070858 0.00140
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_002474.3(MYH11):c.4578+3A>G rs143288748 0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile) rs536586591 0.00135
NM_001367624.2(ZNF469):c.726C>T (p.Ser242=) rs555256402 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_012134.3(LMOD1):c.139G>T (p.Val47Leu) rs200871425 0.00134
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His) rs1065746 0.00133
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln) rs115209326 0.00131
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) rs146061601 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln) rs202113575 0.00125
NM_004606.5(TAF1):c.1431A>G (p.Val477=) rs144087024 0.00125
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_001005498.4(RHBDF2):c.2064+7A>G rs201734337 0.00121
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) rs147393700 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser) rs140157299 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000484.4(APP):c.2217C>T (p.Asp739=) rs145277462 0.00115
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=) rs11573585 0.00114
NM_004736.4(XPR1):c.921G>A (p.Pro307=) rs151270778 0.00114
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp) rs144768563 0.00113
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_198241.3(EIF4G1):c.1648G>C (p.Ala550Pro) rs111924994 0.00113
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=) rs140116256 0.00112
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=) rs112045022 0.00112
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532 0.00111
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_012179.4(FBXO7):c.1144+9C>T rs199954341 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_003105.6(SORL1):c.6318G>A (p.Gln2106=) rs149393026 0.00104
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu) rs62542664 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val) rs146701946 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00096
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_018965.4(TREM2):c.399G>T (p.Leu133=) rs144250872 0.00095
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00094
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=) rs141697521 0.00094
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) rs146468845 0.00093
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) rs55647240 0.00093
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014 0.00092
NM_015909.4(NBAS):c.5808C>T (p.Asn1936=) rs141404162 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_000553.6(WRN):c.3900C>A (p.Pro1300=) rs138886038 0.00089
NM_005235.3(ERBB4):c.1170C>T (p.Asn390=) rs55923663 0.00089
NM_005559.4(LAMA1):c.2808+5G>A rs201030108 0.00089
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_015959.4(TMX2):c.180C>G (p.Asp60Glu) rs143908831 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile) rs146406037 0.00086
NM_005032.7(PLS3):c.582+8T>G rs189475474 0.00086
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000455.5(STK11):c.*16+10G>A rs587781180 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val) rs200070902 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_017872.5(THG1L):c.287A>T (p.Asp96Val) rs139588885 0.00070
NM_052872.4(IL17F):c.254+1G>T rs117796773 0.00070
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) rs201591640 0.00070
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_018993.4(RIN2):c.1966G>A (p.Val656Ile) rs201964534 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_198241.3(EIF4G1):c.2149G>C (p.Ala717Pro) rs111396765 0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003105.6(SORL1):c.6021A>G (p.Gln2007=) rs141089496 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_003285.3(TNR):c.1188C>T (p.Tyr396=) rs138698493 0.00063
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=) rs2242569 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=) rs150055188 0.00061
NM_032444.4(SLX4):c.339T>C (p.Ser113=) rs144326379 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00058
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=) rs11918961 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_016821.3(OGG1):c.1043G>A (p.Gly348Glu) rs41276495 0.00054
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_001849.4(COL6A2):c.791G>A (p.Arg264His) rs148029276 0.00052
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000454.5(SOD1):c.72+19G>A rs201574089 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_000041.4(APOE):c.761T>A (p.Val254Glu) rs199768005 0.00050
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys) rs202211608 0.00050
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_015909.4(NBAS):c.450C>T (p.Ala150=) rs147692911 0.00049
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001365276.2(TNXB):c.1302C>G (p.Ala434=) rs767040315 0.00047
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=) rs148934769 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002615.7(SERPINF1):c.151G>A (p.Val51Met) rs150899084 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) rs143025739 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000553.6(WRN):c.3738G>A (p.Leu1246=) rs147117969 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_000410.4(HFE):c.50C>T (p.Thr17Ile) rs143662783 0.00044
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_003105.6(SORL1):c.4375G>A (p.Val1459Ile) rs140384365 0.00043
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028 0.00043
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_000096.4(CP):c.2446G>A (p.Val816Ile) rs139058165 0.00042
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_002335.4(LRP5):c.1585-9G>A rs202067798 0.00042
NM_005235.3(ERBB4):c.1024T>C (p.Leu342=) rs148466450 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=) rs147128863 0.00041
NM_001177693.2(ARHGEF28):c.4114-15A>G rs372759519 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly) rs925811677 0.00039
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_002335.4(LRP5):c.2763C>T (p.Pro921=) rs147158768 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=) rs139532029 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His) rs138890467 0.00038
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_001922.5(DCT):c.125C>T (p.Pro42Leu) rs140411565 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=) rs143977783 0.00036
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=) rs144414806 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=) rs141940484 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
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_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_001288705.3(CSF1R):c.2222-18C>T rs374818714 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_002474.3(MYH11):c.4578+19T>C rs118072250 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_014727.3(KMT2B):c.4561C>T (p.Arg1521Trp) rs374069613 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) rs147303614 0.00033
NM_006218.4(PIK3CA):c.352+11A>G rs201605394 0.00033
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_000041.4(APOE):c.786G>A (p.Glu262=) rs569017773 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001288705.3(CSF1R):c.1510+16C>T rs200626267 0.00031
NM_002335.4(LRP5):c.2503+10G>A rs191125304 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg) rs141758463 0.00031
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile) rs149775261 0.00031
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met) rs200578021 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380 0.00029
NM_006059.4(LAMC3):c.4415G>A (p.Arg1472Gln) rs137894550 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys) rs201656753 0.00027
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_000389.5(CDKN1A):c.273A>T (p.Gly91=) rs143676546 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) rs113302393 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly) rs142134306 0.00026
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_018965.4(TREM2):c.668C>T (p.Thr223Ile) rs138355759 0.00026
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) rs367640165 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_033305.3(VPS13A):c.516G>A (p.Pro172=) rs141109675 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_001711.6(BGN):c.351+6G>A rs370838225 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000041.4(APOE):c.69G>A (p.Ala23=) rs111833428 0.00024
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526 0.00023
NM_003001.5(SDHC):c.78-19C>T rs144770080 0.00023
NM_005911.6(MAT2A):c.831T>C (p.His277=) rs144914741 0.00023
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_006258.4(PRKG1):c.1002-9G>A rs200218082 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_139279.6(MCFD2):c.249del (p.Asp83fs) rs1294221028 0.00022
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000345.4(SNCA):c.216G>A (p.Thr72=) rs144758871 0.00021
NM_001365276.2(TNXB):c.1671C>T (p.Arg557=) rs367731133 0.00021
NM_001365276.2(TNXB):c.7906A>G (p.Met2636Val) rs369180703 0.00021
NM_001457.4(FLNB):c.1203C>T (p.Thr401=) rs148507053 0.00021
NM_004304.5(ALK):c.3633C>A (p.Thr1211=) rs144437923 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_000089.4(COL1A2):c.2754C>T (p.Asn918=) rs375719762 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742 0.00019
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_000302.4(PLOD1):c.411G>A (p.Arg137=) rs151122664 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028 0.00019
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398 0.00018
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_004273.5(CHST3):c.1363C>G (p.Leu455Val) rs374954414 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln) rs200019229 0.00017
NM_001377265.1(MAPT):c.1326C>T (p.Pro442=) rs201312701 0.00017
NM_001999.4(FBN2):c.1466-4G>A rs371636769 0.00017
NM_004667.6(HERC2):c.293T>C (p.Leu98Pro) rs142254143 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_000041.4(APOE):c.90C>G (p.Pro30=) rs370227413 0.00016
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr) rs143352280 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=) rs116068659 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004656.4(BAP1):c.1407C>T (p.Ser469=) rs150524807 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_012200.4(B3GAT3):c.213C>T (p.Pro71=) rs143334227 0.00015
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088 0.00014
NM_002382.5(MAX):c.36+11G>C rs377066570 0.00014
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=) rs369221405 0.00014
NM_004960.4(FUS):c.1067-6C>T rs77813265 0.00014
NM_006059.4(LAMC3):c.1688G>A (p.Arg563Gln) rs150171154 0.00014
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00014
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_053025.4(MYLK):c.3639G>A (p.Val1213=) rs148419939 0.00014
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663 0.00014
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg) rs997014833 0.00013
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His) rs372167278 0.00013
NM_002474.3(MYH11):c.3858+16G>C rs370164910 0.00013
NM_002474.3(MYH11):c.633+1900G>A rs371799677 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681 0.00013
NM_020812.4(DOCK6):c.3191T>C (p.Leu1064Pro) rs370735885 0.00013
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=) rs148754839 0.00013
NM_152296.5(ATP1A3):c.2493G>A (p.Thr831=) rs374157034 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=) rs370034518 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) rs142613263 0.00012
NM_006767.4(LZTR1):c.1563C>T (p.Phe521=) rs145974096 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) rs368746337 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001365276.2(TNXB):c.12210+5G>A rs4959085 0.00011
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246 0.00011
NM_002474.3(MYH11):c.4365+10G>A rs142707175 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=) rs370010007 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000501.4(ELN):c.1149C>T (p.Tyr383=) rs199621188 0.00010
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_002137.4(HNRNPA2B1):c.984C>A (p.Gly328=) rs768943063 0.00010
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003105.6(SORL1):c.5023C>T (p.Pro1675Ser) rs200758028 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_017617.5(NOTCH1):c.2740+14C>T rs375880798 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser) rs371454893 0.00010
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_177438.3(DICER1):c.439-7A>T rs376762569 0.00010
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) rs199924281 0.00009
NM_000142.5(FGFR3):c.740-18C>T rs779090270 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000553.6(WRN):c.2940G>C (p.Gly980=) rs374522855 0.00009
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln) rs200684767 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001288705.3(CSF1R):c.2554+3G>A rs377388187 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_002474.3(MYH11):c.690C>T (p.Asn230=) rs561105158 0.00009
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007255.3(B4GALT7):c.909C>T (p.Gly303=) rs557374282 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_014850.4(SRGAP3):c.2554G>A (p.Gly852Ser) rs201629131 0.00009
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=) rs371946947 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_018965.4(TREM2):c.*30G>A rs75272959 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_033305.3(VPS13A):c.6973A>G (p.Ile2325Val) rs146400320 0.00009
NM_198241.3(EIF4G1):c.3873C>T (p.Ala1291=) rs775027087 0.00009
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys) rs144670958 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_020526.5(EPHA8):c.277G>A (p.Gly93Ser) rs150553424 0.00008
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_001288705.3(CSF1R):c.819C>T (p.Ala273=) rs373141539 0.00007
NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=) rs374172438 0.00007
NM_002335.4(LRP5):c.1518C>T (p.Asn506=) rs148073961 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_006059.4(LAMC3):c.2353C>T (p.Arg785Cys) rs144930767 0.00007
NM_016938.5(EFEMP2):c.975-15C>T rs768211662 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys) rs143525924 0.00007
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys) rs541323979 0.00007
NM_000051.4(ATM):c.6096-14A>G rs184029731 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000089.4(COL1A2):c.81+15T>C rs758384218 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000302.4(PLOD1):c.77-7T>C rs371488160 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000435.3(NOTCH3):c.3719-7C>T rs374419613 0.00006
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=) rs748339634 0.00006
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) rs140059610 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001369.3(DNAH5):c.1089+1G>A rs574586008 0.00006
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp) rs759376455 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_002055.5(GFAP):c.1171+474G>A rs370385098 0.00006
NM_002474.3(MYH11):c.5614-7G>A rs202120792 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003036.4(SKI):c.1182C>T (p.Ser394=) rs542616415 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_004736.4(XPR1):c.2009G>A (p.Arg670His) rs142675657 0.00006
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020919.4(ALS2):c.-60-2A>G rs532217889 0.00006
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) rs201200488 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_024675.4(PALB2):c.2748+16G>A rs730881873 0.00006
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu) rs140366563 0.00006
NM_032415.7(CARD11):c.2542C>T (p.Arg848Cys) rs753952757 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) rs372971566 0.00005
NM_000104.4(CYP1B1):c.644G>T (p.Ser215Ile) rs72549384 0.00005
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000230.3(LEP):c.496G>C (p.Gly166Arg) rs759854910 0.00005
NM_000302.4(PLOD1):c.1071G>A (p.Ala357=) rs374036329 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val) rs372678518 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg) rs376857772 0.00005
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His) rs369284316 0.00005
NM_001367624.2(ZNF469):c.723T>C (p.Asn241=) rs150745096 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_002335.4(LRP5):c.2467C>T (p.Leu823=) rs768741253 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=) rs554342070 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_198241.3(EIF4G1):c.1471A>T (p.Ile491Phe) rs202143168 0.00005
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly) rs199648202 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000089.4(COL1A2):c.3268-9C>T rs763122023 0.00004
NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=) rs770802769 0.00004
NM_000138.5(FBN1):c.2637C>T (p.Leu879=) rs202163602 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381 0.00004
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00004
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_000754.4(COMT):c.535A>T (p.Lys179Ter) rs770596060 0.00004
NM_001042472.3(ABHD12):c.337_338del (p.Asp113fs) rs387906217 0.00004
NM_001113491.2(SEPTIN9):c.974G>A (p.Arg325Gln) rs377514245 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile) rs377667066 0.00004
NM_001278293.3(ARL6):c.536-4T>C rs201939836 0.00004
NM_001308093.3(GATA4):c.1236G>A (p.Ala412=) rs771755685 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001377265.1(MAPT):c.220+2477C>G rs375470008 0.00004
NM_001849.4(COL6A2):c.202T>C (p.Phe68Leu) rs766930447 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_002608.4(PDGFB):c.273G>A (p.Pro91=) rs548805136 0.00004
NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn) rs558122968 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser) rs370379561 0.00004
NM_004655.4(AXIN2):c.1092C>T (p.Pro364=) rs765518896 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter) rs201845656 0.00004
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val) rs181963507 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) rs374823079 0.00004
NM_080680.3(COL11A2):c.622C>T (p.Leu208=) rs200272494 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974 0.00004
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter) rs1476453955 0.00003
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.2484+6C>T rs576976549 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000179.3(MSH6):c.1053C>T (p.His351=) rs28903083 0.00003
NM_000271.5(NPC1):c.2268C>T (p.Ala756=) rs536329623 0.00003
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=) rs771685198 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000553.6(WRN):c.2978G>A (p.Arg993His) rs370713742 0.00003
NM_001003841.3(SLC6A19):c.774+1G>A rs554777392 0.00003
NM_001034842.5(PTCHD3):c.547C>T (p.Arg183Cys) rs753899041 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001145252.3(CFP):c.580G>A (p.Gly194Arg) rs755651023 0.00003
NM_001267550.2(TTN):c.9958G>A (p.Ala3320Thr) rs144100066 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001365276.2(TNXB):c.4323C>T (p.Tyr1441=) rs369938377 0.00003
NM_001374675.1(HSF4):c.1477T>G (p.Ter493Glu) rs1239772837 0.00003
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=) rs752114619 0.00003
NM_002474.3(MYH11):c.1440C>T (p.Asn480=) rs554373758 0.00003
NM_002609.4(PDGFRB):c.255C>T (p.Leu85=) rs572557907 0.00003
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) rs776113877 0.00003
NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser) rs775045445 0.00003
NM_003242.6(TGFBR2):c.94+16273G>A rs781529108 0.00003
NM_003477.3(PDHX):c.299_301dup (p.Val100_Thr101insIle) rs1279606482 0.00003
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys) rs1408671093 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004655.4(AXIN2):c.645C>T (p.Leu215=) rs767834824 0.00003
NM_005157.6(ABL1):c.2205G>A (p.Thr735=) rs143823709 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn) rs753660907 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_012210.4(TRIM32):c.1191C>G (p.Val397=) rs757752867 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_016103.4(SAR1B):c.83_84del (p.Leu28fs) rs755928019 0.00003
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624 0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_018965.4(TREM2):c.514C>T (p.Pro172Ser) rs781302866 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) rs530216827 0.00003
NM_032444.4(SLX4):c.335C>T (p.Pro112Leu) rs1333549121 0.00003
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser) rs768641511 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652 0.00002
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136 0.00002
NM_000090.4(COL3A1):c.186C>T (p.Cys62=) rs764749176 0.00002
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=) rs758221289 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp) rs910313832 0.00002
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=) rs778350253 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127 0.00002
NM_001110556.2(FLNA):c.5934G>A (p.Thr1978=) rs781836633 0.00002
NM_001110556.2(FLNA):c.6503-9A>G rs781919390 0.00002
NM_001114753.3(ENG):c.1134+16C>T rs544624587 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001267550.2(TTN):c.51067G>A (p.Gly17023Arg) rs745424139 0.00002
NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr) rs541530647 0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter) rs749890642 0.00002
NM_001367624.2(ZNF469):c.2322C>T (p.Pro774=) rs1477401083 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp) rs771702139 0.00002
NM_002474.3(MYH11):c.1413C>T (p.Phe471=) rs758885290 0.00002
NM_002609.4(PDGFRB):c.899A>G (p.His300Arg) rs546647851 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_005267.5(GJA8):c.553C>T (p.Arg185Trp) rs201445539 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_007126.5(VCP):c.2109C>T (p.Ile703=) rs543689812 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu) rs139759238 0.00002
NM_017617.5(NOTCH1):c.1245G>A (p.Glu415=) rs768028742 0.00002
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His) rs777442412 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_053025.4(MYLK):c.5067C>T (p.Ser1689=) rs368571172 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00002
NM_181303.2(NLGN3):c.2399C>T (p.Pro800Leu) rs200889500 0.00002
NM_181332.3(NLGN4X):c.847G>A (p.Ala283Thr) rs766959779 0.00002
NM_201384.3(PLEC):c.9544A>G (p.Ser3182Gly) rs1554681219 0.00002
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) rs139486404 0.00001
NM_000041.4(APOE):c.942C>T (p.Ser314=) rs1051068315 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=) rs755237462 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000089.4(COL1A2):c.1773C>T (p.Arg591=) rs774232044 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_000157.4(GBA1):c.1475A>T (p.Asp492Val) rs771744004 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu) rs587779282 0.00001
NM_000251.3(MSH2):c.2667C>G (p.Ser889=) rs561680100 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000271.5(NPC1):c.127G>A (p.Glu43Lys) rs138277307 0.00001
NM_000302.4(PLOD1):c.1202+14G>A rs757830518 0.00001
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.2321C>G (p.Pro774Arg) rs757980886 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142 0.00001
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys) rs767889030 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001010892.3(RSPH4A):c.1881C>A (p.Asn627Lys) rs1176590941 0.00001
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) rs756434927 0.00001
NM_001042432.2(CLN3):c.777G>A (p.Pro259=) rs751443804 0.00001
NM_001042472.3(ABHD12):c.1075del (p.Val359fs) rs757670984 0.00001
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=) rs876660737 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001080467.3(MYO5B):c.655C>T (p.Arg219Cys) rs755378266 0.00001
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233 0.00001
NM_001110556.2(FLNA):c.5900C>T (p.Ser1967Phe) rs1557176208 0.00001
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478 0.00001
NM_001130144.3(LTBP3):c.2913C>T (p.Cys971=) rs559704168 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001199280.2(HAS3):c.202C>T (p.Arg68Trp) rs780923057 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001253852.3(AP4B1):c.444del (p.His148fs) rs1354513700 0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) rs976363536 0.00001
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr) rs886042330 0.00001
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala) rs776641064 0.00001
NM_001267550.2(TTN):c.50293A>C (p.Lys16765Gln) rs1173417812 0.00001
NM_001267550.2(TTN):c.53445A>G (p.Ile17815Met) rs370843257 0.00001
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn) rs757888367 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001277115.2(DNAH11):c.5778+1G>A rs72657333 0.00001
NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=) rs767546915 0.00001
NM_001288705.3(CSF1R):c.2222-3T>C rs747007270 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001374828.1(ARID1B):c.4091C>T (p.Ser1364Leu) rs1187357394 0.00001
NM_001377265.1(MAPT):c.220+2432G>A rs992572864 0.00001
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001851.6(COL9A1):c.1317T>C (p.Gly439=) rs372343342 0.00001
NM_001851.6(COL9A1):c.1926+6T>G rs372289111 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
NM_001909.5(CTSD):c.366G>A (p.Lys122=) rs369424685 0.00001
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538 0.00001
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=) rs941219425 0.00001
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) rs63750920 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002335.4(LRP5):c.3232C>G (p.Arg1078Gly) rs765402802 0.00001
NM_002474.3(MYH11):c.3294-10del rs756946356 0.00001
NM_002474.3(MYH11):c.4365+9C>T rs571613839 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile) rs367680864 0.00001
NM_002880.4(RAF1):c.29C>T (p.Thr10Met) rs144637992 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.635T>A (p.Leu212His) rs1307247907 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu) rs769034041 0.00001
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp) rs759573189 0.00001
NM_004320.6(ATP2A1):c.1324G>A (p.Glu442Lys) rs772006459 0.00001
NM_004360.5(CDH1):c.27G>A (p.Ser9=) rs786201257 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004463.3(FGD1):c.2168G>A (p.Arg723Gln) rs1253728802 0.00001
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys) rs762486367 0.00001
NM_004612.4(TGFBR1):c.15C>T (p.Val5=) rs1165876259 0.00001
NM_004655.4(AXIN2):c.721T>G (p.Cys241Gly) rs370549410 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys) rs766050696 0.00001
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln) rs1949973841 0.00001
NM_005297.4(MCHR1):c.530C>T (p.Pro177Leu) rs762669619 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.904+11G>A rs769952679 0.00001
NM_005559.4(LAMA1):c.3099G>A (p.Trp1033Ter) rs769655038 0.00001
NM_005592.4(MUSK):c.629-3C>T rs577774989 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala) rs863223767 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006231.4(POLE):c.3651C>T (p.Leu1217=) rs765445494 0.00001
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) rs775720873 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) rs752316341 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007126.5(VCP):c.2160+8T>G rs564249854 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) rs876659233 0.00001
NM_012144.4(DNAI1):c.1490-2A>G rs775831317 0.00001
NM_012309.5(SHANK2):c.2699C>T (p.Pro900Leu) rs2058829550 0.00001
NM_013444.4(UBQLN2):c.636G>A (p.Gln212=) rs894072583 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00001
NM_017534.6(MYH2):c.1920del (p.Gly642fs) rs1230553094 0.00001
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=) rs1405995623 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val) rs752754662 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_019594.4(LRRC8A):c.670G>A (p.Val224Met) rs958031501 0.00001
NM_020549.5(CHAT):c.1288G>A (p.Val430Met) rs745991038 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020919.4(ALS2):c.326A>G (p.Asn109Ser) rs191980454 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024675.4(PALB2):c.2163A>C (p.Thr721=) rs587781105 0.00001
NM_024675.4(PALB2):c.2505C>T (p.Ser835=) rs756502783 0.00001
NM_024675.4(PALB2):c.3204G>A (p.Gly1068=) rs786203475 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met) rs755818826 0.00001
NM_033028.5(BBS4):c.588-9A>G rs553655236 0.00001
NM_033305.3(VPS13A):c.1817G>A (p.Arg606Lys) rs757010076 0.00001
NM_033305.3(VPS13A):c.550A>G (p.Met184Val) rs1825931122 0.00001
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) rs200423954 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln) rs375352888 0.00001
NM_153252.5(BRWD3):c.3433G>A (p.Glu1145Lys) rs1085307469 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_173500.4(TTBK2):c.3328C>T (p.Arg1110Cys) rs562644902 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NM_178452.6(DNAAF1):c.1528+2T>C rs569633512 0.00001
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln) rs544309811 0.00001
NM_198241.3(EIF4G1):c.849C>G (p.Leu283=) rs530344643 0.00001
MYH11:c.503-14_503-12del rs141564071
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.4704T>C (p.Asp1568=) rs1554086117
NM_000041.4(APOE):c.237-16_237-13del rs377486301
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-4_1236-3del rs34325032
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.6726dup (p.Gln2243fs) rs2136314701
NM_000051.4(ATM):c.7165del (p.Ser2389fs) rs2136414843
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.961T>C (p.Tyr321His) rs2149083216
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3815-9C>T rs1314152402
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=) rs748961276
NM_000089.4(COL1A2):c.1252-7del rs35587403
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000090.4(COL3A1):c.1177G>C (p.Gly393Arg) rs2153502348
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.3364-3C>T rs2153503944
NM_000090.4(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.4(COL3A1):c.753del (p.Gly252fs) rs2153501973
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000092.5(COL4A4):c.3289+1G>T rs1973128133
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1936-16C>G rs199694949
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000110.4(DPYD):c.1925T>C (p.Met642Thr) rs2101564724
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000127.3(EXT1):c.962+8_962+11del rs138812713
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.1530G>A (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg) rs193922190
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.4194T>C (p.Asp1398=) rs2043401428
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4943-2A>G rs2141267795
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=) rs754992689
NM_000138.5(FBN1):c.863-26C>T rs1433501467
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1647G>T (p.Gly549=) rs3135897
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1237-50TC[18] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[25] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter) rs1583805203
NM_000168.6(GLI3):c.1497+1G>A rs1399654830
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) rs1555621442
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) rs758550101
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+16del rs3837910
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+12dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg) rs2152697481
NM_000310.4(PPT1):c.537-8del rs760997725
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.41G>A (p.Arg14Lys) rs1589596246
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-4_802-3del rs34003473
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000435.3(NOTCH3):c.1591T>G (p.Cys531Gly) rs2145434233
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000448.3(RAG1):c.140del (p.Lys47fs) rs2133292794
NM_000465.4(BARD1):c.216-14del rs56130510
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000474.4(TWIST1):c.180C>T (p.Val60=) rs565371578
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000494.4(COL17A1):c.1179del (p.Ala394fs) rs531930614
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs) rs766191969
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.4494-12dup rs2090575419
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000553.6(WRN):c.1899-10G>T rs748285435
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG rs758718643
NM_000791.4(DHFR):c.-425_-417dup rs1554066076
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_001005271.3(CHD3):c.222GCC[8] (p.Pro82_Leu83insPro) rs759738955
NM_001008212.2(OPTN):c.964= (p.Glu322=)
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.3466+36dup rs371321981
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042492.3(NF1):c.3198-3_3199del rs771679821
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter) rs878853897
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.730+32del rs71142032
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001080510.5(METTL23):c.238del (p.Thr80fs) rs1327060248
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser) rs782633612
NM_001110556.2(FLNA):c.2993C>G (p.Ala998Gly) rs782099443
NM_001110556.2(FLNA):c.5152G>A (p.Gly1718Ser) rs2148107431
NM_001110556.2(FLNA):c.5159dup (p.Tyr1720Ter) rs2148107418
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001113378.2(FANCI):c.975+10dup rs751890595
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001129.5(AEBP1):c.1018+4_1018+7del rs376965157
NM_001130144.3(LTBP3):c.1164C>G (p.Gly388=) rs2135155623
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)
NM_001164760.2(PRKAR1B):c.709-16A>C rs9330368
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001177693.2(ARHGEF28):c.2297+16= rs2931422
NM_001177693.2(ARHGEF28):c.315G>T (p.Thr105=) rs191563093
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001244008.2(KIF1A):c.110T>C (p.Ile37Thr) rs2055352103
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.606-8A>G rs2104648140
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter) rs2131006757
NM_001267550.2(TTN):c.14582A>G (p.Asp4861Gly) rs566100734
NM_001267550.2(TTN):c.29572A>G (p.Lys9858Glu) rs2154291591
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001267550.2(TTN):c.88037A>T (p.Asp29346Val) rs374741129
NM_001270974.2(HYDIN):c.11472-2A>G rs200565025
NM_001277115.2(DNAH11):c.13103_13104del (p.Leu4368fs) rs2128051824
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001288705.3(CSF1R):c.2132+5C>T rs17110908
NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg) rs41355444
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) rs140924076
NM_001288705.3(CSF1R):c.93C>T (p.Val31=) rs41424646
NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs) rs2114887873
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu) rs777874668
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1156C>T (p.Pro386Ser) rs2147356322
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter) rs1275844963
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter) rs748223125
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) rs140304758
NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr) rs149492184
NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala) rs140056980
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5340C>T (p.Pro1780=) rs184374078
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) rs1752923333
NM_001369268.1(ACAN):c.2023C>T (p.Arg675Ter) rs1356219990
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001371279.1(REEP1):c.301A>T (p.Lys101Ter) rs2104243903
NM_001371279.1(REEP1):c.417+1G>T rs2104223296
NM_001372574.1(ATXN2):c.289-11del rs144235483
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met) rs750249796
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg) rs63749855
NM_001378609.3(OTOGL):c.6122-1G>A rs952235302
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.3495+14del rs3835286
NM_001379500.1(COL18A1):c.3694-20AC[4] rs58188320
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser) rs200864007
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.6824G>T (p.Ser2275Ile) rs2128939487
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001734.5(C1S):c.1537G>T (p.Gly513Ter) rs2135729949
NM_001734.5(C1S):c.306A>G (p.Pro102=) rs144939472
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter) rs1188823925
NM_001845.6(COL4A1):c.2657C>T (p.Thr886Ile) rs770887997
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) rs150687987
NM_001852.4(COL9A2):c.364-16A>C rs1979785
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.652-18_652-16dup rs36076089
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001904.4(CTNNB1):c.1140C>G (p.Asn380Lys) rs1334749796
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys) rs137853226
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.243del (p.Ser82fs) rs63751193
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del) rs72555376
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002382.5(MAX):c.37-15del rs747340873
NM_002474.3(MYH11):c.1569G>A (p.Glu523=) rs1555562769
NM_002474.3(MYH11):c.2998-18_2998-17del rs746744616
NM_002474.3(MYH11):c.4116+11del rs543763112
NM_002474.3(MYH11):c.530+20C>T rs780914854
NM_002474.3(MYH11):c.5504+7G>T rs529718944
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002609.4(PDGFRB):c.1574C>T (p.Pro525Leu) rs2113902466
NM_002637.4(PHKA1):c.1508G>A (p.Gly503Glu) rs1049971949
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002819.5(PTBP1):c.1A>G (p.Met1Val) rs2145008460
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002843.4(PTPRJ):c.2876G>A (p.Arg959His) rs183923997
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.424-37TTC[7] rs34261028
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro) rs2102336180
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003054.6(SLC18A2):c.1122+20T>C rs363227
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003105.6(SORL1):c.1653= (p.Ala551=)
NM_003105.6(SORL1):c.2441G>A (p.Arg814His) rs372764840
NM_003105.6(SORL1):c.3738C>T (p.Asn1246=) rs1699102
NM_003105.6(SORL1):c.759-5G>T rs1464131024
NM_003105.6(SORL1):c.759-7C>T rs751284432
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu) rs2125436283
NM_003242.6(TGFBR2):c.123C>T (p.Asn41=) rs2125404707
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala) rs1553651742
NM_003332.4(TYROBP):c.123C>G (p.Gly41=) rs111477177
NM_003482.4(KMT2D):c.1258+5G>A rs2120689175
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003560.4(PLA2G6):c.1241G>T (p.Cys414Phe) rs1569258633
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003680.4(YARS1):c.40A>T (p.Ile14Phe) rs763337272
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) rs111471526
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val) rs1164154836
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004168.4(SDHA):c.1074C>T (p.Gly358=) rs1421396049
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004181.5(UCHL1):c.326-4dup rs3214812
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) rs28941469
NM_004187.5(KDM5C):c.1793C>T (p.Pro598Leu) rs1556842216
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.2463+18_2463+19del rs71320828
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs) rs1273311196
NM_004304.5(ALK):c.3600G>C (p.Ala1200=) rs56247462
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004360.5(CDH1):c.2164+17dup rs34939176
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004370.6(COL12A1):c.1892-19_1892-18dup rs11347601
NM_004370.6(COL12A1):c.7698-19_7698-15del rs141102808
NM_004380.3(CREBBP):c.7282G>C (p.Gly2428Arg) rs761138453
NM_004484.4(GPC3):c.338-20dup rs370737647
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004655.4(AXIN2):c.1404CCA[5] (p.His474del) rs570443161
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=) rs143243661
NM_004960.4(FUS):c.1542-5dup rs371057360
NM_004960.4(FUS):c.1542-6_1542-5del rs371057360
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004993.6(ATXN3):c.890_891insGCAGCAGCAGCAGCAGCAGCAGC (p.Gln305fs) rs760924707
NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs) rs1555397062
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs) rs763461489
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005032.7(PLS3):c.1262+1G>A rs868979288
NM_005188.4(CBL):c.107ACC[6] (p.His42del) rs373212940
NM_005208.5(CRYBA1):c.500+1G>C rs775038545
NM_005235.3(ERBB4):c.2965-7_2965-4del rs60420993
NM_005235.3(ERBB4):c.3607G>T (p.Val1203Leu) rs1420098634
NM_005235.3(ERBB4):c.884-20dup rs67894136
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.250-10A>G rs1599182364
NM_005378.6(MYCN):c.204_205del (p.Glu69fs) rs2103324191
NM_005529.7(HSPG2):c.3505G>A (p.Glu1169Lys) rs970856044
NM_005544.3(IRS1):c.2039GCA[6] (p.Ser686del) rs138975702
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005732.4(RAD50):c.756+7del rs377720482
NM_005902.4(SMAD3):c.728G>C (p.Arg243Pro) rs863223736
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) rs1064796460
NM_006031.6(PCNT):c.2818dup (p.Ala940fs) rs2146922648
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-4dup rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006258.4(PRKG1):c.421A>G (p.Lys141Glu) rs761759814
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006371.5(CRTAP):c.21_22dup (p.Ala8fs) rs137853936
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln) rs2147777346
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006854.4(KDELR2):c.34C>G (p.His12Asp) rs1785976222
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys) rs145944049
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007126.5(VCP):c.1082-18_1082-8dup rs11272867
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro) rs1060502696
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1527C>T (p.Pro509=) rs1346924016
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) rs876659006
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) rs2146153237
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser) rs1555915377
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007375.4(TARDBP):c.714+69dup rs143130606
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012259.3(HEY2):c.328+32del rs2243357
NM_013254.4(TBK1):c.1960-10G>T rs371275822
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013275.6(ANKRD11):c.6402del (p.Phe2136fs) rs2151736491
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7806+1G>T rs2151675590
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_014208.3(DSPP):c.52-2A>G rs2109995326
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014251.3(SLC25A13):c.1452+19del rs749506606
NM_014251.3(SLC25A13):c.848+8G>T rs761126981
NM_014694.4(ADAMTSL2):c.310-9G>A rs147342065
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014915.3(ANKRD26):c.1986-3dup rs113123391
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014967.5(FAN1):c.2418C>T (p.Asp806=) rs143461130
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs) rs1356107030
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015268.4(DNAJC13):c.4999-8_4999-7del rs541260003
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015629.4(PRPF31):c.178-1G>A rs2146393934
NM_015909.4(NBAS):c.5725-13_5725-12insATTA rs57516013
NM_015915.5(ATL1):c.488T>C (p.Val163Ala) rs1595600383
NM_016169.4(SUFU):c.71del (p.Pro24fs) rs587776579
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_016938.5(EFEMP2):c.939C>T (p.Asn313=) rs754497556
NM_017534.6(MYH2):c.2615C>G (p.Ser872Ter) rs2142303290
NM_017534.6(MYH2):c.5148T>A (p.Ser1716Arg) rs2073323301
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5] (p.26DFGGG[5]) rs754008809
NM_017763.6(RNF43):c.576G>A (p.Pro192=) rs76384648
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017950.4(CCDC40):c.1855C>T (p.Gln619Ter) rs2143735173
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018206.6(VPS35):c.2222A>C (p.Gln741Pro) rs547805228
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_019032.6(ADAMTSL4):c.2254C>T (p.Gln752Ter) rs778345588
NM_019032.6(ADAMTSL4):c.963dup (p.Thr322fs) rs748115277
NM_019066.5(MAGEL2):c.1021C>T (p.Gln341Ter) rs2140717169
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys) rs866373727
NM_020631.6(PLEKHG5):c.335G>T (p.Gly112Val) rs2148591435
NM_020812.4(DOCK6):c.4751+1G>A rs867039578
NM_020919.4(ALS2):c.3722A>G (p.Asn1241Ser) rs1690531316
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del) rs864309616
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_022041.4(GAN):c.1583G>T (p.Ser528Ile) rs1904284730
NM_022089.4(ATP13A2):c.3235+44_3235+55del rs143483351
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys) rs1180844430
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) rs587784155
NM_024426.6(WT1):c.785-14G>C rs375514482
NM_024496.4(IRF2BPL):c.376C>T (p.Gln126Ter) rs1555377483
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro) rs1555459946
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_025000.4(DCAF17):c.322-15dup rs139655160
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.440T>C (p.Ile147Thr) rs547491883
NM_025137.4(SPG11):c.4907-5C>T rs531032784
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs) rs1599573656
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_031157.4(HNRNPA1):c.491-3dup rs202119045
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031448.6(C19orf12):c.138C>T (p.Gly46=) rs552916460
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.618G>T (p.Ser206=) rs367614726
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033305.3(VPS13A):c.1596-8dup rs748907586
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033305.3(VPS13A):c.989+28dup rs751974264
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_052854.3(CREB3L1):c.1525dup rs79068197
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_057176.3(BSND):c.1A>T (p.Met1Leu) rs74315284
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_133433.4(NIPBL):c.507G>T (p.Gln169His) rs2149607854
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_139057.4(ADAMTS17):c.1075+1G>T rs2141962944
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_177438.3(DICER1):c.2524del (p.Met842fs) rs2140025249
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_182895.5(SCARF2):c.2166= (p.Arg722=)
NM_182895.5(SCARF2):c.2172= (p.Pro724=)
NM_182895.5(SCARF2):c.2232= (p.Arg744=)
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs) rs5844420
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs) rs5844418
NM_182895.5(SCARF2):c.2319= (p.Glu773=)
NM_182895.5(SCARF2):c.2320= (p.Leu774=)
NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly) rs874100
NM_182925.5(FLT4):c.3391G>C (p.Gly1131Arg) rs1554109707
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194318.4(B3GLCT):c.335del (p.Pro112fs) rs2137805318
NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2]) rs111659103
NM_198241.3(EIF4G1):c.3685C>G (p.Pro1229Ala) rs35629949
NM_198253.3(TERT):c.2303A>T (p.Asp768Val) rs1579564948
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198578.4(LRRK2):c.2501-9dup rs36220740
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.6844-8dup rs72546334
NM_198578.4(LRRK2):c.7029-9del rs11317573
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_199355.4(ADAMTS18):c.3240C>A (p.Ser1080Arg) rs35478105
NM_199437.2(PRDM10):c.2018G>A (p.Cys673Tyr) rs1319176059
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203447.4(DOCK8):c.1798-4A>G rs774596616
NM_203447.4(DOCK8):c.404+16del rs727505303
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153

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