ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1668
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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_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_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_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_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_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_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
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_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=) rs12328151 0.17959
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_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_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_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_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_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_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_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_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_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
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_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_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_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_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_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_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_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_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_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_017668.3(NDE1):c.948-5739G>A 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_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_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_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
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_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_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_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_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
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_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_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_003105.6(SORL1):c.237G>A (p.Arg79=) rs114331262 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_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_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
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_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_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_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_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
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_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_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
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_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_152296.5(ATP1A3):c.994-20T>G rs138485069 0.01603
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
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_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_001164760.2(PRKAR1B):c.1065C>T (p.Phe355=) rs28488947 0.01504
NM_003105.6(SORL1):c.3814+10T>G rs146197030 0.01503
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_198241.3(EIF4G1):c.4386C>T (p.Asp1462=) rs112718796 0.01477
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 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_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_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_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_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_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
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_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_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_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
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_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_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_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_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
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_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_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_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_014822.4(SEC24D):c.653C>G (p.Ala218Gly) rs35392900 0.00928
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_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_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_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
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_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_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_003105.6(SORL1):c.3295T>C (p.Phe1099Leu) rs146903951 0.00784
NM_000094.4(COL7A1):c.4483-11T>C rs74390291 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_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_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
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_001288705.3(CSF1R):c.2709C>T (p.Phe903=) rs41287094 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_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_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_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
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_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_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_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_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
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_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_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 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_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
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_014822.4(SEC24D):c.578C>T (p.Pro193Leu) rs6844109 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
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_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_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_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
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_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
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_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
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_001288705.3(CSF1R):c.282C>T (p.Ser94=) rs41287102 0.00495
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_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_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_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
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_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 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_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_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_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
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_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_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 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_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_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
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_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
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_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
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_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
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_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_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
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_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
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_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
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_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_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
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_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987 0.00293
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
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_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_003480.4(MFAP5):c.6G>A (p.Ser2=) rs4132450 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn) rs143368552 0.00271
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_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=) rs41287092 0.00258
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg) rs34549764 0.00257
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
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_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_001457.4(FLNB):c.4222+8A>G rs190025781 0.00248
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 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_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
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_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=) rs10972178 0.00210
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
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_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) rs3736229 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_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_080680.3(COL11A2):c.1972-16C>T rs117435723 0.00181
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
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_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_017763.6(RNF43):c.662G>A (p.Arg221Gln) rs2285990 0.00161
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 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_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 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_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 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_001711.6(BGN):c.111C>T (p.Asn37=) rs145819764 0.00141
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) rs149070858 0.00140
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
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_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
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_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
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_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu) rs62542664 0.00104
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 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_000455.5(STK11):c.*16+10G>A rs587781180 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_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val) rs200070902 0.00070
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 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_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
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_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_001177693.2(ARHGEF28):c.4114-15A>G rs372759519 0.00041
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
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_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=) rs371946947 0.00009
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_001377265.1(MAPT):c.220+2432G>A rs992572864 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
MYH11:c.503-14_503-12del rs141564071
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.423-4dup rs730881230
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
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.6347+31del rs58978479
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000089.4(COL1A2):c.1252-7del rs35587403
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
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.67CTG[5] (p.Leu28del) rs773994971
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000142.5(FGFR3):c.1647G>T (p.Gly549=) rs3135897
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+16del rs3837910
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+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000314.8(PTEN):c.802-3del rs34003473
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_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000465.4(BARD1):c.216-14del rs56130510
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
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.706-5_706-4del rs60794673
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
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_001008212.2(OPTN):c.964= (p.Glu322=)
NM_001018115.3(FANCD2):c.3466+36dup rs371321981
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.730+32del rs71142032
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)
NM_001164760.2(PRKAR1B):c.709-16A>C rs9330368
NM_001177693.2(ARHGEF28):c.2297+16= rs2931422
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001330111.2(NAA38):c.-167+119CGG[8] rs759738955
NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr) rs149492184
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001372574.1(ATXN2):c.289-11dup rs144235483
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_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
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.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[8] rs71752747
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
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_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003054.6(SLC18A2):c.1122+20T>C rs363227
NM_003105.6(SORL1):c.1653= (p.Ala551=)
NM_003105.6(SORL1):c.3738C>T (p.Asn1246=) rs1699102
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[12] rs10482769
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_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004304.5(ALK):c.3600G>C (p.Ala1200=) rs56247462
NM_004360.5(CDH1):c.2164+17dup rs34939176
NM_004370.6(COL12A1):c.1892-19_1892-18dup rs11347601
NM_004370.6(COL12A1):c.7698-19_7698-15del rs141102808
NM_004484.4(GPC3):c.338-20dup rs370737647
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[8] (p.Ala26del) rs11466445
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs) rs1555397062
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs) rs763461489
NM_005188.4(CBL):c.107ACC[6] (p.His42del) rs373212940
NM_005235.3(ERBB4):c.2965-7_2965-4del rs60420993
NM_005235.3(ERBB4):c.884-20dup rs67894136
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005732.4(RAD50):c.756+7del rs377720482
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.4552-10G>T rs5744946
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_007126.5(VCP):c.1082-18_1082-8dup rs11272867
NM_007375.4(TARDBP):c.714+69dup rs143130606
NM_012259.3(HEY2):c.328+32del rs2243357
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_013254.4(TBK1):c.541-9del rs369498196
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014694.4(ADAMTSL2):c.310-9G>A rs147342065
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014915.3(ANKRD26):c.1986-3dup rs113123391
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
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_015909.4(NBAS):c.5725-13_5725-12insATTA rs57516013
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_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_033305.3(VPS13A):c.1596-8dup rs748907586
NM_033305.3(VPS13A):c.989+28dup rs751974264
NM_052854.3(CREB3L1):c.1525dup rs79068197
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_182895.5(SCARF2):c.2166= (p.Arg722=)
NM_182895.5(SCARF2):c.2172= (p.Pro724=)
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_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2]) rs111659103
NM_198578.4(LRRK2):c.2501-9dup rs36220740
NM_198578.4(LRRK2):c.6844-8dup rs72546334
NM_198578.4(LRRK2):c.7029-9del rs11317573
NM_199355.4(ADAMTS18):c.3240C>A (p.Ser1080Arg) rs35478105
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
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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