NM_025000.4(DCAF17):c.150C>T (p.Val50=)
|
rs6751956
|
0.28531
|
NM_003690.5(PRKRA):c.685C>T (p.Leu229=)
|
rs62176107
|
0.22118
|
NM_177438.3(DICER1):c.4206+11del
|
rs58202892
|
0.21617
|
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)
|
rs4915691
|
0.20494
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=)
|
rs12077111
|
0.17885
|
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=)
|
rs11208644
|
0.17883
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.10004
|
NM_004082.5(DCTN1):c.3610-20C>G
|
rs2268427
|
0.09345
|
NM_024306.5(FA2H):c.1039+16T>G
|
rs7193407
|
0.07963
|
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=)
|
rs2305138
|
0.07960
|
NM_003560.4(PLA2G6):c.209+16C>T
|
rs2267368
|
0.07814
|
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)
|
rs17110944
|
0.07088
|
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=)
|
rs61739588
|
0.06946
|
NM_015268.4(DNAJC13):c.4157-13T>G
|
rs78526588
|
0.06240
|
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)
|
rs11175964
|
0.05959
|
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu)
|
rs73314997
|
0.05622
|
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)
|
rs6350
|
0.05616
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys)
|
rs79953286
|
0.04591
|
NM_025233.7(COASY):c.1486-5C>G
|
rs74886553
|
0.04354
|
NM_002775.5(HTRA1):c.778-20G>A
|
rs74159166
|
0.04347
|
NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=)
|
rs61734875
|
0.03735
|
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)
|
rs148871409
|
0.03666
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_021999.5(ITM2B):c.81C>T (p.Leu27=)
|
rs11556899
|
0.03334
|
NM_001288705.3(CSF1R):c.294C>T (p.His98=)
|
rs17652007
|
0.03331
|
NM_004960.4(FUS):c.153C>T (p.Gly51=)
|
rs61733962
|
0.03329
|
NM_012179.4(FBXO7):c.540A>G (p.Pro180=)
|
rs41311141
|
0.03327
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu)
|
rs114447350
|
0.02709
|
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser)
|
rs41338945
|
0.02627
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)
|
rs74943037
|
0.02595
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
NM_000142.5(FGFR3):c.615+8C>G
|
rs17878375
|
0.02283
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_025137.4(SPG11):c.6754+19A>G
|
rs116635875
|
0.02121
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.02064
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=)
|
rs12115733
|
0.01994
|
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)
|
rs116359869
|
0.01957
|
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)
|
rs115234947
|
0.01931
|
NM_001177693.2(ARHGEF28):c.3753C>T (p.Asp1251=)
|
rs146562116
|
0.01926
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=)
|
rs61753391
|
0.01829
|
NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser)
|
rs55825559
|
0.01828
|
NM_016516.3(VPS54):c.2228+13T>G
|
rs183006584
|
0.01801
|
NM_016516.3(VPS54):c.2228+14T>A
|
rs190823081
|
0.01801
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser)
|
rs16990018
|
0.01612
|
NM_000021.4(PSEN1):c.1248+8T>C
|
rs362382
|
0.01609
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_198241.3(EIF4G1):c.4395+5G>A
|
rs16858676
|
0.01586
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)
|
rs79577461
|
0.01539
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile)
|
rs11570605
|
0.01488
|
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)
|
rs35635889
|
0.01470
|
NM_198578.4(LRRK2):c.4317+12del
|
rs200829235
|
0.01470
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01441
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01433
|
NM_007126.5(VCP):c.18-5T>C
|
rs114256093
|
0.01353
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
NM_015268.4(DNAJC13):c.282T>G (p.Leu94=)
|
rs116489157
|
0.01156
|
NM_025099.6(CTC1):c.1383G>A (p.Gln461=)
|
rs145192682
|
0.01148
|
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)
|
rs59120265
|
0.01110
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)
|
rs35303786
|
0.01047
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
NM_001177693.2(ARHGEF28):c.840+9A>G
|
rs143387976
|
0.01039
|
NM_000096.4(CP):c.2286-12T>G
|
rs183671127
|
0.01016
|
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)
|
rs1127291
|
0.01003
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_018713.3(SLC30A10):c.640+10G>A
|
rs79328219
|
0.00931
|
NM_015268.4(DNAJC13):c.2292-6G>A
|
rs35575948
|
0.00927
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp)
|
rs79702016
|
0.00855
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_001177693.2(ARHGEF28):c.267G>A (p.Val89=)
|
rs17552682
|
0.00840
|
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)
|
rs41494349
|
0.00826
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)
|
rs117038107
|
0.00776
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_001177693.2(ARHGEF28):c.4161+16T>C
|
rs200381893
|
0.00742
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
NM_002335.4(LRP5):c.687-8G>A
|
rs190810239
|
0.00718
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)
|
rs138683183
|
0.00691
|
NM_177438.3(DICER1):c.4206+17del
|
rs746189044
|
0.00689
|
NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His)
|
rs61748103
|
0.00674
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
NM_004606.5(TAF1):c.87C>G (p.Ala29=)
|
rs28382145
|
0.00668
|
NM_025103.4(IFT74):c.1735G>A (p.Val579Met)
|
rs138591335
|
0.00667
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_017449.5(EPHB2):c.2625A>G (p.Gln875=)
|
rs55993650
|
0.00638
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
NM_007126.5(VCP):c.1092C>T (p.Asp364=)
|
rs61752947
|
0.00619
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_033305.3(VPS13A):c.6379-17T>G
|
rs373072093
|
0.00604
|
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)
|
rs6351
|
0.00589
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)
|
rs17216663
|
0.00569
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)
|
rs75248974
|
0.00528
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)
|
rs111553899
|
0.00499
|
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)
|
rs41287102
|
0.00495
|
NM_015268.4(DNAJC13):c.3942G>A (p.Pro1314=)
|
rs35658317
|
0.00494
|
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)
|
rs140088745
|
0.00485
|
NM_000096.4(CP):c.1275T>C (p.Tyr425=)
|
rs34237139
|
0.00484
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_000096.4(CP):c.1348+9T>C
|
rs35272481
|
0.00465
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)
|
rs116401889
|
0.00456
|
NM_015268.4(DNAJC13):c.5855A>C (p.Asn1952Thr)
|
rs61731474
|
0.00454
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00442
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000447.3(PSEN2):c.861C>T (p.Pro287=)
|
rs75733498
|
0.00436
|
NM_005235.3(ERBB4):c.2202A>G (p.Lys734=)
|
rs34926094
|
0.00435
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_001288705.3(CSF1R):c.1626+13G>A
|
rs115895865
|
0.00429
|
NM_006129.5(BMP1):c.1112G>A (p.Arg371His)
|
rs145284541
|
0.00427
|
NM_006262.4(PRPH):c.996+1G>A
|
rs73112142
|
0.00426
|
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)
|
rs114786489
|
0.00422
|
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)
|
rs34124953
|
0.00417
|
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)
|
rs77323602
|
0.00404
|
NM_001042432.2(CLN3):c.771G>A (p.Glu257=)
|
rs73533466
|
0.00402
|
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)
|
rs28364996
|
0.00396
|
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=)
|
rs139049819
|
0.00393
|
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro)
|
rs147947060
|
0.00389
|
NM_002335.4(LRP5):c.4000+9C>T
|
rs148685646
|
0.00389
|
NM_002474.3(MYH11):c.2520+17A>G
|
rs185697714
|
0.00383
|
NM_001614.5(ACTG1):c.-6-3C>T
|
rs140724578
|
0.00374
|
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
NM_000435.3(NOTCH3):c.3719-11C>T
|
rs78907190
|
0.00367
|
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)
|
rs149775942
|
0.00366
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
|
rs1800956
|
0.00353
|
NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=)
|
rs148054244
|
0.00353
|
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)
|
rs141063383
|
0.00352
|
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=)
|
rs75536447
|
0.00347
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)
|
rs2234462
|
0.00344
|
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)
|
rs35899847
|
0.00343
|
NM_152383.5(DIS3L2):c.702+10T>G
|
rs184764939
|
0.00343
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)
|
rs4647928
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_002087.4(GRN):c.1227G>A (p.Thr409=)
|
rs140298583
|
0.00326
|
NM_001851.6(COL9A1):c.1395+14T>A
|
rs367801990
|
0.00323
|
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)
|
rs146120469
|
0.00321
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
|
rs61749879
|
0.00320
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)
|
rs61749614
|
0.00315
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00313
|
NM_006231.4(POLE):c.779G>A (p.Arg260Gln)
|
rs5744752
|
0.00312
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_007126.5(VCP):c.1360-14C>G
|
rs144304208
|
0.00311
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=)
|
rs11538140
|
0.00305
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
NM_000271.5(NPC1):c.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
|
rs28903085
|
0.00300
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_031157.4(HNRNPA1):c.133-17A>G
|
rs74625894
|
0.00293
|
NM_000142.5(FGFR3):c.393G>A (p.Ser131=)
|
rs55662109
|
0.00292
|
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)
|
rs61730366
|
0.00292
|
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)
|
rs115902470
|
0.00289
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)
|
rs2228563
|
0.00287
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)
|
rs35623035
|
0.00285
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)
|
rs148788180
|
0.00284
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000271.5(NPC1):c.1071G>A (p.Ser357=)
|
rs61731964
|
0.00282
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)
|
rs76603692
|
0.00272
|
NM_001164760.2(PRKAR1B):c.810G>A (p.Ala270=)
|
rs77809618
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)
|
rs115993270
|
0.00262
|
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)
|
rs150315143
|
0.00262
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His)
|
rs61755066
|
0.00261
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_000311.5(PRNP):c.204T>C (p.Pro68=)
|
rs532493114
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)
|
rs149566621
|
0.00257
|
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)
|
rs145158875
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_000271.5(NPC1):c.463+19A>G
|
rs117512587
|
0.00252
|
NM_000345.4(SNCA):c.408C>T (p.Tyr136=)
|
rs76642636
|
0.00252
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_000400.4(ERCC2):c.699C>T (p.Phe233=)
|
rs141816180
|
0.00248
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=)
|
rs55737335
|
0.00247
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln)
|
rs34916193
|
0.00245
|
NM_000553.6(WRN):c.970A>G (p.Thr324Ala)
|
rs1800390
|
0.00245
|
NM_001711.6(BGN):c.357C>T (p.Leu119=)
|
rs146322407
|
0.00243
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=)
|
rs61746872
|
0.00237
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_005612.5(REST):c.274G>A (p.Gly92Arg)
|
rs61748753
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=)
|
rs28363488
|
0.00226
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)
|
rs146901730
|
0.00220
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=)
|
rs76546607
|
0.00218
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_000311.5(PRNP):c.372C>G (p.Gly124=)
|
rs201423990
|
0.00213
|
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)
|
rs141290741
|
0.00212
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)
|
rs541251697
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
NM_001202.6(BMP4):c.76T>C (p.Leu26=)
|
rs74486266
|
0.00205
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_001903.5(CTNNA1):c.589-5T>C
|
rs186236339
|
0.00200
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr)
|
rs150475750
|
0.00198
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)
|
rs145280904
|
0.00184
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=)
|
rs11574420
|
0.00182
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_004960.4(FUS):c.675C>T (p.Gly225=)
|
rs140003720
|
0.00179
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000222.3(KIT):c.2805T>A (p.Ile935=)
|
rs72549296
|
0.00176
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=)
|
rs45562437
|
0.00174
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)
|
rs138416613
|
0.00170
|
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)
|
rs143144050
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_001164760.2(PRKAR1B):c.642C>T (p.Thr214=)
|
rs76061469
|
0.00166
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
NM_016525.5(UBAP1):c.1266+6C>T
|
rs117985789
|
0.00162
|
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=)
|
rs140786324
|
0.00161
|
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)
|
rs148974733
|
0.00159
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00152
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_213720.3(CHCHD10):c.41+7G>A
|
rs141526972
|
0.00147
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_033305.3(VPS13A):c.2170+13T>C
|
rs183087425
|
0.00143
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_001457.4(FLNB):c.6741G>A (p.Ser2247=)
|
rs143400214
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)
|
rs2229560
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_020937.4(FANCM):c.2268C>A (p.Arg756=)
|
rs146061601
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_004606.5(TAF1):c.1431A>G (p.Val477=)
|
rs144087024
|
0.00125
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
NM_003239.5(TGFB3):c.744C>A (p.Ile248=)
|
rs45477900
|
0.00123
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)
|
rs139521707
|
0.00121
|
NM_001005498.4(RHBDF2):c.2064+7A>G
|
rs201734337
|
0.00121
|
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)
|
rs147393700
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=)
|
rs139500905
|
0.00121
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001457.4(FLNB):c.2493C>T (p.Pro831=)
|
rs145952210
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_004736.4(XPR1):c.921G>A (p.Pro307=)
|
rs151270778
|
0.00114
|
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)
|
rs139653501
|
0.00113
|
NM_007126.5(VCP):c.1081+17C>T
|
rs200756991
|
0.00113
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)
|
rs191234581
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_003105.6(SORL1):c.6318G>A (p.Gln2106=)
|
rs149393026
|
0.00104
|
NM_004304.5(ALK):c.4785C>T (p.Ala1595=)
|
rs76150405
|
0.00104
|
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=)
|
rs139554243
|
0.00100
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val)
|
rs146701946
|
0.00098
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_005188.4(CBL):c.1227+20dup
|
rs530081144
|
0.00095
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)
|
rs554795578
|
0.00090
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_005032.7(PLS3):c.582+8T>G
|
rs189475474
|
0.00086
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000435.3(NOTCH3):c.1607-5C>A
|
rs372869012
|
0.00081
|
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=)
|
rs141346023
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)
|
rs200180992
|
0.00073
|
NM_000501.4(ELN):c.212C>T (p.Ala71Val)
|
rs41350445
|
0.00073
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)
|
rs143483053
|
0.00071
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_003105.6(SORL1):c.6021A>G (p.Gln2007=)
|
rs141089496
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)
|
rs56289559
|
0.00063
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=)
|
rs2242569
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=)
|
rs150055188
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)
|
rs111627256
|
0.00058
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)
|
rs150776274
|
0.00055
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_006258.4(PRKG1):c.1963-16T>G
|
rs376174664
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
NM_000454.5(SOD1):c.72+19G>A
|
rs201574089
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_000041.4(APOE):c.761T>A (p.Val254Glu)
|
rs199768005
|
0.00050
|
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)
|
rs34781844
|
0.00050
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_025137.4(SPG11):c.7152-14_7152-10dup
|
rs566399432
|
0.00050
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_031885.5(BBS2):c.472-10T>C
|
rs138714256
|
0.00049
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_002615.7(SERPINF1):c.151G>A (p.Val51Met)
|
rs150899084
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00044
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=)
|
rs147128863
|
0.00041
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_001288705.3(CSF1R):c.2222-18C>T
|
rs374818714
|
0.00034
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_006231.4(POLE):c.6714C>T (p.Cys2238=)
|
rs200082120
|
0.00033
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
NM_001288705.3(CSF1R):c.1510+16C>T
|
rs200626267
|
0.00031
|
NM_053025.4(MYLK):c.711C>T (p.Asn237=)
|
rs149407805
|
0.00031
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)
|
rs150489856
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)
|
rs113302393
|
0.00026
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00026
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_006258.4(PRKG1):c.1002-9G>A
|
rs200218082
|
0.00022
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)
|
rs202096917
|
0.00021
|
NM_000051.4(ATM):c.3402+17T>C
|
rs3092825
|
0.00020
|
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val)
|
rs2227971
|
0.00020
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_053025.4(MYLK):c.1310-20T>C
|
rs375101899
|
0.00020
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
NM_001851.6(COL9A1):c.795C>G (p.Thr265=)
|
rs149067801
|
0.00019
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=)
|
rs201193059
|
0.00016
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)
|
rs201595274
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=)
|
rs369221405
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_002474.3(MYH11):c.3858+16G>C
|
rs370164910
|
0.00013
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000368.5(TSC1):c.210+18A>G
|
rs118203349
|
0.00011
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=)
|
rs368746337
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00009
|
NM_018965.4(TREM2):c.*30G>A
|
rs75272959
|
0.00009
|
NM_000455.5(STK11):c.598-7G>A
|
rs377502057
|
0.00008
|
NM_002474.3(MYH11):c.300C>T (p.Ser100=)
|
rs111662326
|
0.00008
|
NM_017617.5(NOTCH1):c.6083-4G>A
|
rs570242146
|
0.00008
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
NM_053025.4(MYLK):c.2070G>A (p.Thr690=)
|
rs141049942
|
0.00007
|
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)
|
rs147840022
|
0.00007
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)
|
rs748339634
|
0.00006
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00006
|
NM_001042432.2(CLN3):c.222T>C (p.His74=)
|
rs201225986
|
0.00006
|
NM_003036.4(SKI):c.1211+10C>T
|
rs200242660
|
0.00006
|
NM_017668.3(NDE1):c.948-9103C>T
|
rs202120792
|
0.00006
|
NM_024675.4(PALB2):c.2748+16G>A
|
rs730881873
|
0.00006
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_002335.4(LRP5):c.2467C>T (p.Leu823=)
|
rs768741253
|
0.00005
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000455.5(STK11):c.1200G>A (p.Leu400=)
|
rs368661707
|
0.00004
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00004
|
NM_004655.4(AXIN2):c.1092C>T (p.Pro364=)
|
rs765518896
|
0.00004
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
NM_000179.3(MSH6):c.1053C>T (p.His351=)
|
rs28903083
|
0.00003
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His)
|
rs768408465
|
0.00002
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000368.5(TSC1):c.2392-16A>G
|
rs758374143
|
0.00001
|
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)
|
rs876660737
|
0.00001
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
NM_024675.4(PALB2):c.2163A>C (p.Thr721=)
|
rs587781105
|
0.00001
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000041.4(APOE):c.237-16_237-13del
|
rs377486301
|
|
NM_000051.4(ATM):c.1236-4_1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.6347+31dup
|
rs58978479
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000127.3(EXT1):c.962+8_962+11del
|
rs138812713
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000143.4(FH):c.1237-50TC[23]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[26]
|
rs144131869
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+16del
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+11dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+9dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.2131-21dup
|
rs11299077
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|
NM_000310.4(PPT1):c.537-8del
|
rs760997725
|
|
NM_000314.8(PTEN):c.802-4_802-3del
|
rs34003473
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)
|
rs371622656
|
|
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)
|
rs782721874
|
|
NM_001129.5(AEBP1):c.1018+4_1018+7del
|
rs376965157
|
|
NM_001177693.2(ARHGEF28):c.315G>T (p.Thr105=)
|
rs191563093
|
|
NM_001288705.3(CSF1R):c.2132+5C>T
|
rs17110908
|
|
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly)
|
rs140924076
|
|
NM_001288705.3(CSF1R):c.93C>T (p.Val31=)
|
rs41424646
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala)
|
rs140056980
|
|
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)
|
rs568046708
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del)
|
rs72555376
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
NM_002382.5(MAX):c.37-15del
|
rs747340873
|
|
NM_002474.3(MYH11):c.530+20C>T
|
rs780914854
|
|
NM_003000.3(SDHB):c.424-37TTC[6]
|
rs34261028
|
|
NM_003000.3(SDHB):c.424-37TTC[7]
|
rs34261028
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
NM_003332.4(TYROBP):c.123C>G (p.Gly41=)
|
rs111477177
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
NM_004181.5(UCHL1):c.326-4dup
|
rs3214812
|
|
NM_004260.4(RECQL4):c.2463+18_2463+19del
|
rs71320828
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4])
|
rs762459325
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
NM_004484.4(GPC3):c.338-6_338-5del
|
rs370737647
|
|
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=)
|
rs143243661
|
|
NM_004960.4(FUS):c.1542-5dup
|
rs371057360
|
|
NM_004960.4(FUS):c.1542-6_1542-5del
|
rs371057360
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)
|
rs72550890
|
|
NM_005633.4(SOS1):c.2167+16dup
|
rs79984786
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
NM_014251.3(SLC25A13):c.1452+19del
|
rs749506606
|
|
NM_014251.3(SLC25A13):c.848+8G>T
|
rs761126981
|
|
NM_014845.6(FIG4):c.447-4_447-3dup
|
rs11377100
|
|
NM_014967.5(FAN1):c.2418C>T (p.Asp806=)
|
rs143461130
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
NM_017668.3(NDE1):c.*388del
|
rs543763112
|
|
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3])
|
rs147489453
|
|
NM_022089.4(ATP13A2):c.3235+44_3235+55del
|
rs143483351
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_025000.4(DCAF17):c.322-15dup
|
rs139655160
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
NM_080680.3(COL11A2):c.2584-5del
|
rs555657704
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_182895.5(SCARF2):c.2232= (p.Arg744=)
|
|
|
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs)
|
rs5844420
|
|
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs)
|
rs5844418
|
|
NM_198578.4(LRRK2):c.2689+20dup
|
rs66810434
|
|
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)
|
rs7133914
|
|