NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_003244.4(TGIF1):c.16+1720del
|
rs11571510
|
0.36186
|
NM_030665.4(RAI1):c.840del (p.Gln280fs)
|
rs34083643
|
0.35741
|
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)
|
rs774726264
|
0.33333
|
NM_018670.4(MESP1):c.158dup (p.Ser54fs)
|
rs759335947
|
0.26682
|
NM_017950.4(CCDC40):c.2832+313A>G
|
rs7210679
|
0.25232
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro)
|
rs6142775
|
0.15464
|
NM_201384.3(PLEC):c.3757-9A>G
|
rs57461687
|
0.14687
|
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=)
|
rs16980398
|
0.12317
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_002691.4(POLD1):c.3218+10A>G
|
rs2463239
|
0.11362
|
NM_001164508.2(NEB):c.11077-4G>T
|
rs878924060
|
0.11336
|
NM_016495.6(TBC1D7):c.517T>C (p.Leu173=)
|
rs482227
|
0.11098
|
NM_003859.3(DPM1):c.679-7A>T
|
rs60224379
|
0.11090
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.10508
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln)
|
rs74129455
|
0.10140
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_000142.5(FGFR3):c.445+3A>G
|
rs3135868
|
0.09950
|
NM_001367721.1(CASK):c.1034-6C>T
|
rs73470569
|
0.09241
|
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=)
|
rs11998271
|
0.08588
|
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)
|
rs17145720
|
0.08574
|
NM_004985.5(KRAS):c.451-9G>A
|
rs12313763
|
0.08467
|
NM_000516.7(GNAS):c.555C>T (p.Ile185=)
|
rs8620
|
0.08427
|
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)
|
rs10408676
|
0.08167
|
NM_030653.4(DDX11):c.1415-7T>C
|
rs61917225
|
0.08122
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu)
|
rs58308209
|
0.07595
|
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)
|
rs9878928
|
0.07568
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_014208.3(DSPP):c.3699A>C (p.Glu1233Asp)
|
rs112275895
|
0.07276
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)
|
rs34544747
|
0.07202
|
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)
|
rs17110944
|
0.07088
|
NM_001375883.1(GPR161):c.-45+481A>T
|
rs73030230
|
0.06974
|
NM_001368067.1(LDB3):c.504T>C (p.Asp168=)
|
rs76615432
|
0.06909
|
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)
|
rs35281128
|
0.06868
|
NM_007078.3(LDB3):c.690-4842G>A
|
rs113445294
|
0.06823
|
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)
|
rs3737821
|
0.06797
|
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)
|
rs34764749
|
0.06739
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)
|
rs150688899
|
0.06491
|
NM_001369268.1(ACAN):c.1221C>T (p.Val407=)
|
rs16942341
|
0.06383
|
NM_138477.4(CDAN1):c.3450+11C>T
|
rs56046122
|
0.06311
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu)
|
rs7025814
|
0.06135
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_000516.7(GNAS):c.1113C>T (p.Asn371=)
|
rs8386
|
0.06127
|
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
|
rs57611801
|
0.06070
|
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=)
|
rs34534853
|
0.05909
|
NM_201384.3(PLEC):c.265-16C>G
|
rs11993492
|
0.05821
|
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn)
|
rs34627722
|
0.05757
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
NM_001142864.4(PIEZO1):c.2991+12A>G
|
rs112680298
|
0.05710
|
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile)
|
rs6149
|
0.05632
|
NM_032545.4(CFC1):c.140G>A (p.Arg47Gln)
|
rs201431919
|
0.05582
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
NM_201525.4(ADGRG1):c.1286+6G>A
|
rs74326170
|
0.05376
|
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)
|
rs73675069
|
0.05347
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_006031.6(PCNT):c.711T>G (p.His237Gln)
|
rs34500739
|
0.05250
|
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly)
|
rs6782980
|
0.05224
|
NM_014862.4(ARNT2):c.1815C>G (p.Thr605=)
|
rs79914316
|
0.05224
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.05158
|
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)
|
rs41317939
|
0.05124
|
NM_058246.4(DNAJB6):c.176-20A>G
|
rs28377945
|
0.05106
|
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln)
|
rs11575542
|
0.05076
|
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His)
|
rs34268261
|
0.05068
|
NM_002016.2(FLG):c.2857G>C (p.Glu953Gln)
|
rs201137357
|
0.05019
|
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His)
|
rs743346
|
0.04982
|
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)
|
rs35908728
|
0.04973
|
NM_016592.5(GNAS):c.294C>T (p.Pro98=)
|
rs1800902
|
0.04961
|
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)
|
rs35219601
|
0.04960
|
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val)
|
rs6884652
|
0.04935
|
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu)
|
rs16942318
|
0.04874
|
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)
|
rs1805007
|
0.04832
|
NM_000257.4(MYH7):c.2923-18G>A
|
rs7157087
|
0.04825
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=)
|
rs34016213
|
0.04793
|
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)
|
rs3742884
|
0.04741
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu)
|
rs959216315
|
0.04723
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_032638.5(GATA2):c.564G>C (p.Thr188=)
|
rs34870876
|
0.04681
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_006206.6(PDGFRA):c.368-3C>T
|
rs55947416
|
0.04647
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=)
|
rs112813367
|
0.04637
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_006031.6(PCNT):c.54+6C>T
|
rs80017051
|
0.04471
|
NM_004113.6(FGF12):c.229-7C>T
|
rs79608878
|
0.04458
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)
|
rs6910140
|
0.04394
|
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)
|
rs12142270
|
0.04382
|
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile)
|
rs13010627
|
0.04350
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
NM_001164508.2(NEB):c.20467-4T>A
|
rs199791504
|
0.04348
|
NM_002775.5(HTRA1):c.778-20G>A
|
rs74159166
|
0.04347
|
NM_001130987.2(DYSF):c.3575-17C>T
|
rs13421969
|
0.04340
|
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser)
|
rs17470454
|
0.04338
|
NM_005677.4(COLQ):c.366+7A>G
|
rs750387
|
0.04329
|
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu)
|
rs61735814
|
0.04295
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_153704.6(TMEM67):c.406+1361C>T
|
rs73324992
|
0.04251
|
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu)
|
rs61747420
|
0.04243
|
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)
|
rs41309927
|
0.04225
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944
|
0.04185
|
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile)
|
rs137978188
|
0.04174
|
NM_002775.5(HTRA1):c.753C>T (p.Ile251=)
|
rs17624021
|
0.04155
|
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)
|
rs2297411
|
0.04148
|
NM_033343.4(LHX4):c.450C>T (p.Asn150=)
|
rs16855642
|
0.04109
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)
|
rs16866380
|
0.04073
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_033629.6(TREX1):c.912G>A (p.Leu304=)
|
rs3135945
|
0.04049
|
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala)
|
rs74641549
|
0.04030
|
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)
|
rs112723255
|
0.04015
|
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_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=)
|
rs11643513
|
0.03937
|
NM_000381.4(MID1):c.661-6G>T
|
rs868267567
|
0.03935
|
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys)
|
rs35009641
|
0.03933
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe)
|
rs76094493
|
0.03919
|
NM_006031.6(PCNT):c.520A>G (p.Ile174Val)
|
rs61735822
|
0.03881
|
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=)
|
rs2099534
|
0.03878
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile)
|
rs7924553
|
0.03864
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=)
|
rs56179521
|
0.03852
|
NM_001165963.4(SCN1A):c.2176+17A>G
|
rs59251406
|
0.03846
|
NM_001611.5(ACP5):c.661G>A (p.Val221Ile)
|
rs2229532
|
0.03835
|
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=)
|
rs17062686
|
0.03808
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
NM_001134888.3(RTL1):c.3323G>A (p.Arg1108Gln)
|
rs117476938
|
0.03770
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)
|
rs17667728
|
0.03744
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
NM_001127222.2(CACNA1A):c.1782-20C>T
|
rs73513425
|
0.03727
|
NM_201384.3(PLEC):c.718+10C>T
|
rs12545876
|
0.03717
|
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser)
|
rs35232724
|
0.03714
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)
|
rs34540355
|
0.03694
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr)
|
rs112081600
|
0.03693
|
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)
|
rs16011
|
0.03687
|
NM_003919.3(SGCE):c.1253+812G>A
|
rs559235992
|
0.03668
|
NM_080425.4(GNAS):c.627G>A (p.Lys209=)
|
rs74934823
|
0.03663
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=)
|
rs3729855
|
0.03634
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_001114753.3(ENG):c.1060C>T (p.Leu354=)
|
rs36092484
|
0.03618
|
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=)
|
rs17846714
|
0.03612
|
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu)
|
rs115116507
|
0.03600
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile)
|
rs2233070
|
0.03565
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
NM_001846.4(COL4A2):c.549+15G>C
|
rs74124318
|
0.03560
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)
|
rs16995209
|
0.03548
|
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)
|
rs35044802
|
0.03488
|
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly)
|
rs12406479
|
0.03481
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
NM_001711.6(BGN):c.564C>T (p.Ile188=)
|
rs2070933
|
0.03463
|
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys)
|
rs35364414
|
0.03460
|
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu)
|
rs35280470
|
0.03456
|
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=)
|
rs9926309
|
0.03447
|
NM_001130987.2(DYSF):c.460+17G>C
|
rs115170960
|
0.03446
|
NM_181741.4(ORC4):c.166C>G (p.Leu56Val)
|
rs2307397
|
0.03439
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
0.03419
|
NM_001101.5(ACTB):c.942G>A (p.Gln314=)
|
rs11546939
|
0.03418
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_001287.6(CLCN7):c.900G>A (p.Ala300=)
|
rs41286695
|
0.03405
|
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro)
|
rs34151633
|
0.03401
|
NM_001851.6(COL9A1):c.1066-3T>C
|
rs16868869
|
0.03394
|
NM_001164508.2(NEB):c.16284+11A>G
|
rs367881797
|
0.03368
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
NM_000702.4(ATP1A2):c.1652-11C>G
|
rs17846713
|
0.03344
|
NM_021999.5(ITM2B):c.81C>T (p.Leu27=)
|
rs11556899
|
0.03334
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03319
|
NM_001009944.3(PKD1):c.8949-20G>A
|
rs9936029
|
0.03318
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_001999.4(FBN2):c.203C>T (p.Ala68Val)
|
rs62390671
|
0.03303
|
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)
|
rs2066518
|
0.03294
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)
|
rs4986939
|
0.03269
|
NM_000540.3(RYR1):c.12094+11A>G
|
rs73933018
|
0.03267
|
NM_001171.6(ABCC6):c.346-6G>A
|
rs55778939
|
0.03265
|
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)
|
rs35392229
|
0.03244
|
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His)
|
rs2230693
|
0.03222
|
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)
|
rs35594075
|
0.03203
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_001235.5(SERPINH1):c.955-6C>A
|
rs7105575
|
0.03189
|
NM_001009944.3(PKD1):c.8948+17A>G
|
rs9928442
|
0.03177
|
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_012330.4(KAT6B):c.4495G>A (p.Val1499Ile)
|
rs3740321
|
0.03151
|
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys)
|
rs34605667
|
0.03134
|
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser)
|
rs149022148
|
0.03132
|
NM_000142.5(FGFR3):c.588C>T (p.Arg196=)
|
rs2305180
|
0.03125
|
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln)
|
rs35203186
|
0.03124
|
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605
|
0.03116
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile)
|
rs8178017
|
0.03099
|
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile)
|
rs45520539
|
0.03076
|
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly)
|
rs138107830
|
0.03048
|
NM_001082971.2(DDC):c.649A>G (p.Met217Val)
|
rs6263
|
0.03032
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_001130987.2(DYSF):c.1577-1635C>G
|
rs76402294
|
0.03029
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_001142864.4(PIEZO1):c.3456-11C>T
|
rs77276858
|
0.03009
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
NM_001846.4(COL4A2):c.594C>T (p.Pro198=)
|
rs74124319
|
0.02997
|
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
0.02993
|
NM_006129.5(BMP1):c.1766-5C>T
|
rs76809016
|
0.02982
|
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys)
|
rs28756988
|
0.02978
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02976
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02972
|
NM_005573.4(LMNB1):c.432G>A (p.Ser144=)
|
rs34224885
|
0.02972
|
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln)
|
rs62621197
|
0.02952
|
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp)
|
rs34843668
|
0.02941
|
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val)
|
rs11628107
|
0.02936
|
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=)
|
rs61746966
|
0.02927
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_002661.5(PLCG2):c.2054+7G>A
|
rs138158454
|
0.02918
|
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=)
|
rs41310197
|
0.02889
|
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val)
|
rs2230720
|
0.02889
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
NM_000081.4(LYST):c.7137A>C (p.Leu2379=)
|
rs61738992
|
0.02884
|
NM_001267550.2(TTN):c.32393-12A>G
|
rs16866434
|
0.02884
|
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln)
|
rs28369051
|
0.02881
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys)
|
rs45556841
|
0.02871
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)
|
rs80109666
|
0.02845
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)
|
rs12093500
|
0.02840
|
NM_001377.3(DYNC2H1):c.9353+7G>A
|
rs78309870
|
0.02821
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
NM_001458.5(FLNC):c.2390-13C>T
|
rs78086167
|
0.02800
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02788
|
NM_001458.5(FLNC):c.5669-12C>T
|
rs79790270
|
0.02786
|
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)
|
rs73973133
|
0.02781
|
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)
|
rs9809716
|
0.02768
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu)
|
rs114447350
|
0.02709
|
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser)
|
rs73464035
|
0.02699
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
NM_007078.3(LDB3):c.1074C>T (p.Ala358=)
|
rs45459491
|
0.02688
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu)
|
rs2295418
|
0.02669
|
NM_001018115.3(FANCD2):c.64+12G>C
|
rs9833228
|
0.02661
|
NM_213599.3(ANO5):c.2521-13A>G
|
rs76850415
|
0.02660
|
NM_001846.4(COL4A2):c.315+19T>C
|
rs74967960
|
0.02658
|
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr)
|
rs61736615
|
0.02652
|
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)
|
rs4790235
|
0.02635
|
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met)
|
rs2306914
|
0.02635
|
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser)
|
rs41338945
|
0.02627
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
NM_001267550.2(TTN):c.8116+19G>A
|
rs13011633
|
0.02607
|
NM_001372044.2(SHANK3):c.1803-8C>T
|
rs112659165
|
0.02605
|
NM_004415.4(DSP):c.1903+7T>C
|
rs28763962
|
0.02605
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)
|
rs74943037
|
0.02595
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr)
|
rs61729471
|
0.02583
|
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr)
|
rs77696629
|
0.02562
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02557
|
NM_030957.4(ADAMTS10):c.1588-7C>G
|
rs11882422
|
0.02550
|
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_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=)
|
rs55776396
|
0.02513
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val)
|
rs59593133
|
0.02501
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)
|
rs34836829
|
0.02488
|
NM_003193.5(TBCE):c.614T>C (p.Val205Ala)
|
rs16832611
|
0.02475
|
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro)
|
rs80132640
|
0.02449
|
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly)
|
rs16832619
|
0.02446
|
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)
|
rs61756062
|
0.02444
|
NM_001130987.2(DYSF):c.4222-20G>A
|
rs111935215
|
0.02442
|
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg)
|
rs17705005
|
0.02442
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
NM_000069.3(CACNA1S):c.2063+7G>T
|
rs79984703
|
0.02430
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln)
|
rs55865069
|
0.02422
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg)
|
rs114772012
|
0.02384
|
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=)
|
rs142099589
|
0.02381
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
NM_001852.4(COL9A2):c.364-8C>T
|
rs11207843
|
0.02379
|
NM_000257.4(MYH7):c.895+17G>A
|
rs45580436
|
0.02377
|
NM_005677.4(COLQ):c.1248C>T (p.Asp416=)
|
rs55866379
|
0.02373
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664
|
0.02366
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val)
|
rs61731662
|
0.02356
|
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)
|
rs72989738
|
0.02353
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser)
|
rs34638481
|
0.02336
|
NM_133379.5(TTN):c.13476C>T (p.Asp4492=)
|
rs72648904
|
0.02326
|
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser)
|
rs56069227
|
0.02325
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)
|
rs79134187
|
0.02323
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu)
|
rs2071126
|
0.02308
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn)
|
rs2228545
|
0.02286
|
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=)
|
rs35313209
|
0.02285
|
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)
|
rs35495399
|
0.02285
|
NM_000142.5(FGFR3):c.615+8C>G
|
rs17878375
|
0.02283
|
NM_000334.4(SCN4A):c.3720+10A>G
|
rs111679484
|
0.02281
|
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)
|
rs11789099
|
0.02275
|
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)
|
rs76889468
|
0.02262
|
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu)
|
rs61749697
|
0.02257
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)
|
rs116262672
|
0.02238
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02235
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
NM_004260.4(RECQL4):c.1258+6A>T
|
rs34437789
|
0.02229
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val)
|
rs117328686
|
0.02223
|
NC_000002.12:g.178535859A>G
|
rs202214630
|
0.02222
|
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)
|
rs2228565
|
0.02212
|
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)
|
rs34954751
|
0.02208
|
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val)
|
rs61733129
|
0.02206
|
NM_207122.2(EXT2):c.-31+474G>A
|
rs112082531
|
0.02206
|
NM_003227.4(TFR2):c.2255G>A (p.Arg752His)
|
rs41295942
|
0.02204
|
NM_198525.3(KIF7):c.1444-4A>G
|
rs112333674
|
0.02204
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val)
|
rs34088014
|
0.02195
|
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser)
|
rs45604036
|
0.02192
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_005373.3(MPL):c.340G>A (p.Val114Met)
|
rs12731981
|
0.02191
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02188
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp)
|
rs35723243
|
0.02185
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
|
rs78247455
|
0.02182
|
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_006031.6(PCNT):c.5879G>A (p.Arg1960Gln)
|
rs34813667
|
0.02167
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_001846.4(COL4A2):c.315+14G>T
|
rs78713113
|
0.02155
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
NM_018451.5(CPAP):c.187G>C (p.Asp63His)
|
rs7336216
|
0.02151
|
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr)
|
rs13210127
|
0.02151
|
NM_000540.3(RYR1):c.11908-14A>G
|
rs2292799
|
0.02149
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
NM_000540.3(RYR1):c.11260-19T>G
|
rs4802583
|
0.02140
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)
|
rs35879351
|
0.02129
|
NM_000222.3(KIT):c.2394C>T (p.Ile798=)
|
rs55789615
|
0.02125
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.02125
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_001845.6(COL4A1):c.1084+5C>G
|
rs74508743
|
0.02118
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
NM_024079.5(ALG8):c.1039-5T>C
|
rs112211908
|
0.02114
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.02105
|
NM_020433.5(JPH2):c.1289-7C>T
|
rs116986535
|
0.02105
|
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)
|
rs35842750
|
0.02097
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)
|
rs2303831
|
0.02082
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
NM_001267550.2(TTN):c.37040-13A>G
|
rs760603937
|
0.02053
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_000142.5(FGFR3):c.1076-17C>T
|
rs17881967
|
0.02051
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_000069.3(CACNA1S):c.2748C>T (p.His916=)
|
rs2297902
|
0.02034
|
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)
|
rs60078675
|
0.02025
|
NM_000163.5(GHR):c.1473C>T (p.Ser491=)
|
rs6176
|
0.02017
|
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=)
|
rs796103760
|
0.02016
|
NM_017739.4(POMGNT1):c.1540-16C>T
|
rs10493123
|
0.02014
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)
|
rs35173688
|
0.02009
|
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)
|
rs35798522
|
0.02009
|
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
|
rs3731249
|
0.02007
|
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_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)
|
rs61746895
|
0.01981
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_001379500.1(COL18A1):c.2728-8G>A
|
rs116618591
|
0.01979
|
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)
|
rs41287110
|
0.01976
|
NM_153704.6(TMEM67):c.406+1379G>A
|
rs60659894
|
0.01971
|
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)
|
rs75191159
|
0.01965
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=)
|
rs72851170
|
0.01961
|
NM_001365951.3(KIF1B):c.2115+6360G>T
|
rs41274458
|
0.01961
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)
|
rs117781224
|
0.01941
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
NM_201384.3(PLEC):c.342+13G>A
|
rs115664009
|
0.01917
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)
|
rs35997569
|
0.01914
|
NM_032638.5(GATA2):c.1233G>A (p.Ala411=)
|
rs34172218
|
0.01909
|
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met)
|
rs116788687
|
0.01908
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_152281.3(GORAB):c.62-3T>C
|
rs73029138
|
0.01889
|
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln)
|
rs188337046
|
0.01884
|
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_020812.4(DOCK6):c.2956-5C>T
|
rs3810309
|
0.01873
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)
|
rs200021871
|
0.01863
|
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)
|
rs28763946
|
0.01862
|
NM_000168.6(GLI3):c.2835G>C (p.Leu945=)
|
rs61758978
|
0.01858
|
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile)
|
rs762149243
|
0.01857
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser)
|
rs144714250
|
0.01838
|
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg)
|
rs78778733
|
0.01836
|
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro)
|
rs79737301
|
0.01835
|
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys)
|
rs35633849
|
0.01835
|
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly)
|
rs79849424
|
0.01835
|
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)
|
rs35445653
|
0.01835
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His)
|
rs17101661
|
0.01834
|
NM_001130004.2(ACTN1):c.2663C>T (p.Pro888Leu)
|
rs77499007
|
0.01831
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01816
|
NM_177438.3(DICER1):c.4206+9_4206+17del
|
rs772457274
|
0.01816
|
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)
|
rs3730349
|
0.01815
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01815
|
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr)
|
rs28932177
|
0.01809
|
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)
|
rs117936904
|
0.01806
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
NM_000540.3(RYR1):c.12624+14C>T
|
rs75797287
|
0.01777
|
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)
|
rs2163649
|
0.01776
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
NM_006502.3(POLH):c.1783A>G (p.Met595Val)
|
rs9333555
|
0.01768
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
NM_001567.4(INPPL1):c.1894C>A (p.Leu632Ile)
|
rs61749195
|
0.01759
|
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)
|
rs2305179
|
0.01752
|
NM_001278495.2(NUTM2B):c.2027T>C (p.Met676Thr)
|
rs61863495
|
0.01752
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
NM_001184.4(ATR):c.946G>A (p.Val316Ile)
|
rs28897764
|
0.01744
|
NM_003212.4(CRIPTO):c.331C>G (p.Arg111Gly)
|
rs34501971
|
0.01743
|
NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp)
|
rs543580
|
0.01739
|
NM_000083.3(CLCN1):c.2284+5C>T
|
rs74824159
|
0.01735
|
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=)
|
rs2306220
|
0.01733
|
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)
|
rs41270201
|
0.01730
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=)
|
rs34997144
|
0.01727
|
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_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
NM_001845.6(COL4A1):c.501C>T (p.Pro167=)
|
rs16975612
|
0.01708
|
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro)
|
rs79693964
|
0.01703
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_001267550.2(TTN):c.37202-4T>C
|
rs202032281
|
0.01693
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01691
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp)
|
rs2228292
|
0.01679
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
NM_001852.4(COL9A2):c.955-4C>G
|
rs118135975
|
0.01678
|
NM_004006.3(DMD):c.832-17C>A
|
rs72470514
|
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_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=)
|
rs535294541
|
0.01666
|
NM_000142.5(FGFR3):c.1075+5C>T
|
rs3135885
|
0.01659
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His)
|
rs115610405
|
0.01644
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_001184.4(ATR):c.2875G>A (p.Val959Met)
|
rs28910271
|
0.01643
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys)
|
rs58073789
|
0.01638
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile)
|
rs34773557
|
0.01615
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile)
|
rs61746943
|
0.01614
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
NM_015346.4(ZFYVE26):c.6987-3C>T
|
rs76728509
|
0.01610
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)
|
rs111656822
|
0.01603
|
NM_152296.5(ATP1A3):c.994-20T>G
|
rs138485069
|
0.01603
|
NM_053274.3(GLMN):c.977+7T>A
|
rs61758979
|
0.01597
|
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=)
|
rs142518033
|
0.01592
|
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala)
|
rs56063729
|
0.01586
|
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)
|
rs2922828
|
0.01586
|
NM_000069.3(CACNA1S):c.3525+18C>T
|
rs56021911
|
0.01583
|
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)
|
rs34934920
|
0.01583
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly)
|
rs9332745
|
0.01573
|
NM_021939.4(FKBP10):c.1400-4C>G
|
rs114199361
|
0.01571
|
NM_003737.4(DCHS1):c.6272G>C (p.Arg2091Thr)
|
rs2659874
|
0.01569
|
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_001134888.3(RTL1):c.2554G>A (p.Ala852Thr)
|
rs112608318
|
0.01563
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_007078.3(LDB3):c.609G>A (p.Ser203=)
|
rs45531131
|
0.01554
|
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)
|
rs80356569
|
0.01549
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)
|
rs12481791
|
0.01548
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)
|
rs114887570
|
0.01539
|
NM_002473.6(MYH9):c.3838-12C>T
|
rs113698937
|
0.01529
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
NM_001267550.2(TTN):c.52706-17A>G
|
rs72646807
|
0.01524
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_000642.3(AGL):c.82+1565T>G
|
rs145049634
|
0.01521
|
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
0.01520
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=)
|
rs35676128
|
0.01518
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)
|
rs75826658
|
0.01517
|
NM_001458.5(FLNC):c.1374C>T (p.Pro458=)
|
rs115140972
|
0.01514
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=)
|
rs78426988
|
0.01512
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser)
|
rs61505039
|
0.01509
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_004006.3(DMD):c.832-18C>G
|
rs72470515
|
0.01505
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01503
|
NM_023110.3(FGFR1):c.2187-6C>T
|
rs4647904
|
0.01503
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_001369268.1(ACAN):c.5800G>C (p.Val1934Leu)
|
rs76282091
|
0.01498
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=)
|
rs61001398
|
0.01493
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly)
|
rs28756992
|
0.01483
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val)
|
rs36105360
|
0.01478
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln)
|
rs3135103
|
0.01472
|
NM_001267550.2(TTN):c.40141+7G>A
|
rs77960621
|
0.01470
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=)
|
rs28379666
|
0.01465
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val)
|
rs78711748
|
0.01459
|
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val)
|
rs17318151
|
0.01456
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met)
|
rs113513807
|
0.01455
|
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp)
|
rs61999335
|
0.01454
|
NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln)
|
rs41265123
|
0.01449
|
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)
|
rs11573587
|
0.01447
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
NM_138387.4(G6PC3):c.416+5A>G
|
rs73306693
|
0.01443
|
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile)
|
rs34406052
|
0.01442
|
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr)
|
rs2066524
|
0.01441
|
NM_014967.5(FAN1):c.1851C>T (p.Ser617=)
|
rs118060760
|
0.01439
|
NM_021971.4(GMPPB):c.376C>G (p.His126Asp)
|
rs34345884
|
0.01439
|
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)
|
rs11570097
|
0.01438
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)
|
rs55757622
|
0.01419
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile)
|
rs45612241
|
0.01414
|
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe)
|
rs34417963
|
0.01412
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)
|
rs61748814
|
0.01397
|
NM_000051.4(ATM):c.6095+15T>C
|
rs3212321
|
0.01395
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)
|
rs112290343
|
0.01385
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)
|
rs3087476
|
0.01375
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile)
|
rs149025191
|
0.01369
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala)
|
rs34240327
|
0.01363
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=)
|
rs533485167
|
0.01351
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
NM_138694.4(PKHD1):c.11174+11A>G
|
rs115072237
|
0.01349
|
NM_178138.6(LHX3):c.454+3C>T
|
rs34356735
|
0.01349
|
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln)
|
rs28756981
|
0.01348
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr)
|
rs78457662
|
0.01346
|
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
|
rs34070843
|
0.01345
|
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)
|
rs34625105
|
0.01344
|
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg)
|
rs34661425
|
0.01341
|
NM_032122.5(DTNBP1):c.886C>T (p.Pro296Ser)
|
rs74907982
|
0.01341
|
NM_133379.5(TTN):c.13608C>T (p.Ser4536=)
|
rs72648905
|
0.01336
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)
|
rs41266007
|
0.01322
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu)
|
rs150552608
|
0.01319
|
NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu)
|
rs61736805
|
0.01313
|
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr)
|
rs199951144
|
0.01311
|
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser)
|
rs201474544
|
0.01309
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile)
|
rs79049330
|
0.01304
|
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys)
|
rs147662558
|
0.01304
|
NM_000552.5(VWF):c.5843-8C>G
|
rs34444862
|
0.01303
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met)
|
rs35071969
|
0.01288
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
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_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
NM_003394.4(WNT10B):c.901C>T (p.Pro301Ser)
|
rs35034312
|
0.01260
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01259
|
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met)
|
rs114190041
|
0.01251
|
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg)
|
rs36044314
|
0.01250
|
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu)
|
rs78619145
|
0.01249
|
NM_001939.3(DRP2):c.1454+5G>A
|
rs138775194
|
0.01247
|
NM_000540.3(RYR1):c.12012+19T>C
|
rs181590606
|
0.01243
|
NM_005529.7(HSPG2):c.5998-7A>G
|
rs148336692
|
0.01243
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)
|
rs17849079
|
0.01239
|
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His)
|
rs145911138
|
0.01237
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_152383.5(DIS3L2):c.1488T>C (p.His496=)
|
rs72998118
|
0.01233
|
NM_001458.5(FLNC):c.6004+19G>A
|
rs12530507
|
0.01231
|
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)
|
rs35019869
|
0.01231
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=)
|
rs17586159
|
0.01226
|
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)
|
rs16012
|
0.01217
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)
|
rs73063795
|
0.01215
|
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)
|
rs1793940
|
0.01213
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)
|
rs111527738
|
0.01206
|
NM_018451.5(CPAP):c.287A>G (p.His96Arg)
|
rs61739263
|
0.01206
|
NM_001377.3(DYNC2H1):c.195+7T>C
|
rs112718117
|
0.01205
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
|
rs61898615
|
0.01194
|
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)
|
rs147350387
|
0.01193
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp)
|
rs41268685
|
0.01191
|
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln)
|
rs35640778
|
0.01190
|
NM_152296.5(ATP1A3):c.2264-16C>T
|
rs149116776
|
0.01189
|
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu)
|
rs72650053
|
0.01188
|
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val)
|
rs55853696
|
0.01185
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
NM_001848.3(COL6A1):c.859-20C>T
|
rs78884675
|
0.01182
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
NM_173630.4(RTTN):c.1008-4G>T
|
rs151203272
|
0.01176
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=)
|
rs73001172
|
0.01166
|
NM_001848.3(COL6A1):c.958-17G>A
|
rs79364611
|
0.01165
|
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)
|
rs34548196
|
0.01161
|
NM_000257.4(MYH7):c.3972+15C>T
|
rs3729820
|
0.01159
|
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_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
NM_004369.4(COL6A3):c.768C>T (p.Val256=)
|
rs79606264
|
0.01148
|
NM_025099.6(CTC1):c.1383G>A (p.Gln461=)
|
rs145192682
|
0.01148
|
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)
|
rs113445782
|
0.01143
|
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile)
|
rs28756982
|
0.01142
|
NM_001367805.3(KIF23):c.1585T>C (p.Phe529Leu)
|
rs17310879
|
0.01142
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)
|
rs115493456
|
0.01140
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg)
|
rs35632616
|
0.01138
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_015294.6(TRIM37):c.861-6C>T
|
rs145324030
|
0.01135
|
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His)
|
rs61750053
|
0.01134
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)
|
rs146073993
|
0.01131
|
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn)
|
rs59291670
|
0.01123
|
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe)
|
rs6182
|
0.01122
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr)
|
rs12720442
|
0.01115
|
NM_000051.4(ATM):c.6572+12G>T
|
rs3218677
|
0.01112
|
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01112
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met)
|
rs78733601
|
0.01102
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_176787.5(PIGN):c.167C>T (p.Ala56Val)
|
rs61755362
|
0.01101
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met)
|
rs77172218
|
0.01096
|
NM_001845.6(COL4A1):c.279+20A>T
|
rs79359215
|
0.01095
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)
|
rs371877084
|
0.01088
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)
|
rs67254537
|
0.01080
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)
|
rs77555300
|
0.01077
|
NM_001555.5(IGSF1):c.1184T>G (p.Leu395Arg)
|
rs139140137
|
0.01076
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)
|
rs141930814
|
0.01071
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_006005.3(WFS1):c.1800C>T (p.Thr600=)
|
rs71524362
|
0.01070
|
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)
|
rs72955212
|
0.01069
|
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)
|
rs1805069
|
0.01068
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)
|
rs41292143
|
0.01062
|
NM_001846.4(COL4A2):c.1340-20A>C
|
rs9515217
|
0.01061
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
NM_002633.3(PGM1):c.247-5664G>A
|
rs77043134
|
0.01056
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_004366.6(CLCN2):c.2271+8T>G
|
rs114350071
|
0.01055
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01053
|
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro)
|
rs17782839
|
0.01052
|
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)
|
rs35789999
|
0.01046
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
0.01041
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)
|
rs2229033
|
0.01036
|
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)
|
rs144397126
|
0.01035
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu)
|
rs75198607
|
0.01032
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
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_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)
|
rs189888707
|
0.01025
|
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)
|
rs74499562
|
0.01024
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met)
|
rs35877540
|
0.01015
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
NM_014243.3(ADAMTS3):c.1754A>G (p.Asn585Ser)
|
rs150270324
|
0.01011
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)
|
rs571655
|
0.01009
|
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)
|
rs4253047
|
0.01008
|
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)
|
rs139297659
|
0.01008
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)
|
rs117412802
|
0.01005
|
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)
|
rs1127291
|
0.01003
|
NM_001079802.2(FKTN):c.42G>A (p.Thr14=)
|
rs78794935
|
0.01002
|
NM_001079802.2(FKTN):c.106-10G>A
|
rs148384394
|
0.01000
|
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn)
|
rs17179194
|
0.00998
|
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_001555.5(IGSF1):c.1796A>C (p.Asn599Thr)
|
rs146462069
|
0.00995
|
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)
|
rs62621996
|
0.00994
|
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val)
|
rs45453691
|
0.00993
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_014314.4(RIGI):c.212G>A (p.Arg71His)
|
rs72710678
|
0.00981
|
NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln)
|
rs41289620
|
0.00981
|
NM_030928.4(CDT1):c.130A>C (p.Thr44Pro)
|
rs587780306
|
0.00981
|
NM_052989.3(IFT122):c.1854C>T (p.Ser618=)
|
rs146874343
|
0.00981
|
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr)
|
rs144147445
|
0.00980
|
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu)
|
rs186251256
|
0.00975
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)
|
rs149140724
|
0.00970
|
NM_000222.3(KIT):c.67+4G>A
|
rs72550820
|
0.00969
|
NM_007325.5(GRIA3):c.1501-8T>A
|
rs139058646
|
0.00969
|
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)
|
rs115694169
|
0.00968
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)
|
rs150682895
|
0.00967
|
NM_152705.3(POLR1D):c.278A>G (p.His93Arg)
|
rs118191175
|
0.00967
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln)
|
rs147332320
|
0.00963
|
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)
|
rs61746722
|
0.00962
|
NM_001083961.2(WDR62):c.1642+8C>T
|
rs143309981
|
0.00960
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00960
|
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)
|
rs2227968
|
0.00959
|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)
|
rs16999593
|
0.00959
|
NM_020812.4(DOCK6):c.441G>C (p.Lys147Asn)
|
rs34545822
|
0.00959
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
NM_177438.3(DICER1):c.1935G>A (p.Pro645=)
|
rs61751177
|
0.00958
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu)
|
rs2498170
|
0.00954
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)
|
rs117817123
|
0.00946
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
NM_001144997.2(ITGA7):c.38C>T (p.Thr13Ile)
|
rs11171663
|
0.00943
|
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)
|
rs61734951
|
0.00943
|
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=)
|
rs146781600
|
0.00943
|
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
|
rs3136056
|
0.00941
|
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys)
|
rs143992266
|
0.00936
|
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile)
|
rs113493697
|
0.00935
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00935
|
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln)
|
rs61746356
|
0.00932
|
NM_000165.5(GJA1):c.758C>T (p.Ala253Val)
|
rs17653265
|
0.00930
|
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)
|
rs112435835
|
0.00928
|
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly)
|
rs35392900
|
0.00928
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
NM_002016.2(FLG):c.6073G>A (p.Gly2025Arg)
|
rs144517370
|
0.00927
|
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)
|
rs112545413
|
0.00927
|
NM_015268.4(DNAJC13):c.2292-6G>A
|
rs35575948
|
0.00927
|
NM_000203.5(IDUA):c.299+6C>T
|
rs147498923
|
0.00924
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
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_004826.4(ECEL1):c.967-7C>G
|
rs76735188
|
0.00917
|
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp)
|
rs139115934
|
0.00916
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu)
|
rs144928688
|
0.00909
|
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile)
|
rs34271211
|
0.00909
|
NM_002055.5(GFAP):c.96T>C (p.Gly32=)
|
rs60045579
|
0.00908
|
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys)
|
rs35629489
|
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_017813.5(BPNT2):c.856A>G (p.Lys286Glu)
|
rs112433249
|
0.00905
|
NM_015158.5(KANK1):c.206C>T (p.Pro69Leu)
|
rs61737969
|
0.00903
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)
|
rs143195893
|
0.00899
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_006059.4(LAMC3):c.2516C>T (p.Thr839Met)
|
rs57816762
|
0.00893
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu)
|
rs141909783
|
0.00888
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_000875.5(IGF1R):c.1686G>A (p.Val562=)
|
rs2228531
|
0.00884
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_000540.3(RYR1):c.10259+7G>A
|
rs143752962
|
0.00875
|
NM_003919.3(SGCE):c.1253+814G>A
|
rs183951730
|
0.00875
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
NM_001042545.2(LTBP4):c.2812+6C>T
|
rs190107102
|
0.00874
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00870
|
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)
|
rs34600572
|
0.00870
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
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_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
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_001845.6(COL4A1):c.4005C>T (p.Gly1335=)
|
rs140722653
|
0.00856
|
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu)
|
rs3188691
|
0.00856
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu)
|
rs4528
|
0.00853
|
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu)
|
rs34231046
|
0.00853
|
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val)
|
rs113439353
|
0.00852
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00852
|
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser)
|
rs79321413
|
0.00851
|
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met)
|
rs73658916
|
0.00851
|
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr)
|
rs61754841
|
0.00851
|
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)
|
rs60707953
|
0.00849
|
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_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His)
|
rs139099911
|
0.00845
|
NM_006005.3(WFS1):c.930A>G (p.Ala310=)
|
rs115561278
|
0.00845
|
NM_001853.4(COL9A3):c.520-6C>T
|
rs45476191
|
0.00844
|
NM_001458.5(FLNC):c.2390-14C>T
|
rs71581921
|
0.00843
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00842
|
NM_006846.4(SPINK5):c.2241-6C>T
|
rs190365795
|
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_182961.4(SYNE1):c.10022T>C (p.Val3341Ala)
|
rs138693624
|
0.00841
|
NM_000033.4(ABCD1):c.901-16C>T
|
rs41302176
|
0.00840
|
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp)
|
rs149507450
|
0.00840
|
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys)
|
rs143524436
|
0.00835
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_001807.6(CEL):c.2064C>G (p.Gly688=)
|
rs373329036
|
0.00828
|
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)
|
rs41494349
|
0.00826
|
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His)
|
rs116784674
|
0.00826
|
NM_015909.4(NBAS):c.3755C>A (p.Ser1252Tyr)
|
rs114866170
|
0.00825
|
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)
|
rs80097077
|
0.00825
|
NM_000051.4(ATM):c.8419-19A>G
|
rs12279930
|
0.00824
|
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)
|
rs61735393
|
0.00824
|
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)
|
rs143662421
|
0.00824
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=)
|
rs150857429
|
0.00816
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile)
|
rs75583421
|
0.00814
|
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)
|
rs35062203
|
0.00814
|
NM_001184.4(ATR):c.268C>T (p.His90Tyr)
|
rs28897763
|
0.00813
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)
|
rs148912436
|
0.00813
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)
|
rs137854857
|
0.00812
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)
|
rs77782321
|
0.00810
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile)
|
rs2289178
|
0.00809
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
NM_002016.2(FLG):c.1741A>T (p.Thr581Ser)
|
rs145627745
|
0.00808
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_001079802.2(FKTN):c.910+14G>A
|
rs76180538
|
0.00806
|
NM_133379.5(TTN):c.14244T>C (p.Leu4748=)
|
rs139669372
|
0.00806
|
NM_002016.2(FLG):c.6220G>C (p.Glu2074Gln)
|
rs141120727
|
0.00804
|
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser)
|
rs75472618
|
0.00802
|
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys)
|
rs112911897
|
0.00801
|
NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser)
|
rs77960347
|
0.00800
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001372106.1(DNAH10):c.6040G>A (p.Val2014Met)
|
rs75173589
|
0.00796
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met)
|
rs116111018
|
0.00795
|
NM_001164508.2(NEB):c.24208-7C>T
|
rs113048349
|
0.00793
|
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)
|
rs149363094
|
0.00792
|
NM_001348800.3(ZBTB20):c.154A>G (p.Thr52Ala)
|
rs72950611
|
0.00790
|
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)
|
rs34564141
|
0.00790
|
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)
|
rs61747868
|
0.00788
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)
|
rs78461695
|
0.00787
|
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp)
|
rs114851469
|
0.00786
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=)
|
rs117738194
|
0.00782
|
NM_080425.4(GNAS):c.525T>C (p.Ser175=)
|
rs114255910
|
0.00782
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_001846.4(COL4A2):c.888A>G (p.Gly296=)
|
rs114482753
|
0.00777
|
NM_003922.4(HERC1):c.570C>T (p.Asn190=)
|
rs2228514
|
0.00777
|
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=)
|
rs76834910
|
0.00776
|
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)
|
rs117038107
|
0.00776
|
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro)
|
rs745695673
|
0.00775
|
NM_006005.3(WFS1):c.1308C>T (p.Thr436=)
|
rs71539646
|
0.00773
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=)
|
rs45506098
|
0.00771
|
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu)
|
rs34849154
|
0.00771
|
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met)
|
rs75024419
|
0.00771
|
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser)
|
rs17220206
|
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_014208.3(DSPP):c.2012G>A (p.Ser671Asn)
|
rs200839637
|
0.00769
|
NM_001680.5(FXYD2):c.*6+6C>A
|
rs11827585
|
0.00767
|
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)
|
rs61734527
|
0.00766
|
NM_006031.6(PCNT):c.7914-4G>A
|
rs76287849
|
0.00764
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln)
|
rs56378825
|
0.00761
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)
|
rs143043662
|
0.00760
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_002440.4(MSH4):c.2520G>C (p.Glu840Asp)
|
rs114093703
|
0.00759
|
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His)
|
rs77075366
|
0.00759
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro)
|
rs3734676
|
0.00757
|
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu)
|
rs3734675
|
0.00756
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr)
|
rs75596506
|
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_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met)
|
rs139051768
|
0.00749
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=)
|
rs137914723
|
0.00748
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)
|
rs41287094
|
0.00742
|
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys)
|
rs72957510
|
0.00742
|
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)
|
rs147895473
|
0.00739
|
NM_000334.4(SCN4A):c.3441+7G>A
|
rs142270113
|
0.00738
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)
|
rs183329050
|
0.00737
|
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=)
|
rs149056734
|
0.00736
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu)
|
rs143367996
|
0.00734
|
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly)
|
rs61749695
|
0.00734
|
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)
|
rs33956783
|
0.00733
|
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val)
|
rs111759069
|
0.00733
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)
|
rs202111971
|
0.00732
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys)
|
rs34189216
|
0.00729
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)
|
rs149518409
|
0.00727
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_001844.5(COL2A1):c.708+8C>T
|
rs41317893
|
0.00720
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln)
|
rs73585360
|
0.00719
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
NM_001458.5(FLNC):c.6004+11G>A
|
rs117653869
|
0.00719
|
NM_002335.4(LRP5):c.687-8G>A
|
rs190810239
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)
|
rs41292285
|
0.00715
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=)
|
rs76426116
|
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_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=)
|
rs16059
|
0.00712
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_001267550.2(TTN):c.50551+20C>T
|
rs67636125
|
0.00708
|
NM_020812.4(DOCK6):c.1833-8T>A
|
rs7252321
|
0.00708
|
NM_201378.4(PLEC):c.71-11718C>T
|
rs190222339
|
0.00708
|
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=)
|
rs60091617
|
0.00708
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
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_022173.4(TIA1):c.953A>G (p.Gln318Arg)
|
rs115611153
|
0.00704
|
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)
|
rs114363936
|
0.00703
|
NM_001379110.1(SLC9A6):c.1662-4G>A
|
rs188072063
|
0.00703
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)
|
rs3827522
|
0.00701
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=)
|
rs77310009
|
0.00694
|
NM_001555.5(IGSF1):c.2939T>C (p.Val980Ala)
|
rs147496468
|
0.00694
|
NM_001927.4(DES):c.735+20C>T
|
rs151226355
|
0.00694
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn)
|
rs78827970
|
0.00691
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
NM_003737.4(DCHS1):c.6479C>T (p.Thr2160Ile)
|
rs113091644
|
0.00689
|
NM_177438.3(DICER1):c.4206+17del
|
rs746189044
|
0.00689
|
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)
|
rs75559202
|
0.00684
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
NM_001846.4(COL4A2):c.1011G>A (p.Lys337=)
|
rs147765396
|
0.00683
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00681
|
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly)
|
rs34114147
|
0.00680
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys)
|
rs60414549
|
0.00678
|
NM_031935.3(HMCN1):c.6029-4T>C
|
rs10911803
|
0.00676
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00674
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=)
|
rs148865812
|
0.00674
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)
|
rs2229485
|
0.00669
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
NM_017696.3(MCM9):c.2693C>T (p.Ser898Phe)
|
rs3751444
|
0.00666
|
NM_173689.7(CRB2):c.137C>T (p.Pro46Leu)
|
rs73571404
|
0.00665
|
NM_000208.4(INSR):c.2683-5C>T
|
rs41306363
|
0.00664
|
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu)
|
rs117116488
|
0.00664
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000142.5(FGFR3):c.1076-13C>T
|
rs114754024
|
0.00661
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_000791.4(DHFR):c.-259C>T
|
rs6151597
|
0.00658
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_001106.4(ACVR2B):c.1075-5C>T
|
rs115155428
|
0.00657
|
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)
|
rs2229474
|
0.00657
|
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)
|
rs61734948
|
0.00656
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_153240.5(NPHP3):c.1887+6G>A
|
rs79113972
|
0.00654
|
NM_002016.2(FLG):c.10925T>C (p.Ile3642Thr)
|
rs150010190
|
0.00653
|
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)
|
rs61753390
|
0.00653
|
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His)
|
rs34393923
|
0.00653
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala)
|
rs104894963
|
0.00650
|
NM_018714.3(COG1):c.1049C>T (p.Thr350Met)
|
rs117344829
|
0.00650
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)
|
rs11573579
|
0.00649
|
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)
|
rs146753539
|
0.00646
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)
|
rs201962705
|
0.00645
|
NM_020812.4(DOCK6):c.4933G>A (p.Val1645Ile)
|
rs34853494
|
0.00645
|
NM_001029896.2(WDR45):c.838G>A (p.Val280Met)
|
rs149509552
|
0.00644
|
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)
|
rs144439937
|
0.00644
|
NM_001845.6(COL4A1):c.1121-18G>A
|
rs139885514
|
0.00644
|
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=)
|
rs138074469
|
0.00644
|
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser)
|
rs74967568
|
0.00644
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00642
|
NM_004628.5(XPC):c.860T>G (p.Phe287Cys)
|
rs35629274
|
0.00642
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr)
|
rs61735358
|
0.00641
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_001367233.3(HEPH):c.1696G>A (p.Gly566Ser)
|
rs35835670
|
0.00640
|
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu)
|
rs78979358
|
0.00639
|
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)
|
rs145737766
|
0.00637
|
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)
|
rs142835596
|
0.00637
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu)
|
rs139294803
|
0.00637
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00636
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
NM_002055.5(GFAP):c.738G>A (p.Ala246=)
|
rs147404772
|
0.00636
|
NM_002474.3(MYH11):c.5296-4C>T
|
rs183176702
|
0.00636
|
NM_001165963.4(SCN1A):c.384-20G>C
|
rs192956852
|
0.00635
|
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr)
|
rs16866489
|
0.00635
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_003332.4(TYROBP):c.94+10G>C
|
rs55746266
|
0.00630
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00628
|
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=)
|
rs76184385
|
0.00619
|
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr)
|
rs61751992
|
0.00618
|
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg)
|
rs115661422
|
0.00618
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys)
|
rs9332772
|
0.00614
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00610
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_030957.4(ADAMTS10):c.2403+4A>G
|
rs187565033
|
0.00608
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
NM_000540.3(RYR1):c.573C>T (p.Asp191=)
|
rs892054
|
0.00607
|
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser)
|
rs115892604
|
0.00605
|
NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs)
|
rs587780460
|
0.00605
|
NM_001289104.2(PRKCSH):c.351-5C>T
|
rs76485217
|
0.00604
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_024741.3(ZNF408):c.52+36G>C
|
rs111794632
|
0.00603
|
NM_201384.3(PLEC):c.2961C>T (p.Ser987=)
|
rs149932255
|
0.00603
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_058246.4(DNAJB6):c.899-6C>T
|
rs78337193
|
0.00601
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)
|
rs34830861
|
0.00599
|
NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)
|
rs73946020
|
0.00599
|
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)
|
rs117804715
|
0.00599
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
NM_175914.5(HNF4A):c.393T>C (p.Asn131=)
|
rs113308087
|
0.00598
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp)
|
rs113231696
|
0.00597
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly)
|
rs72647896
|
0.00591
|
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly)
|
rs1130737
|
0.00590
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)
|
rs78741041
|
0.00588
|
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=)
|
rs117066889
|
0.00587
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)
|
rs147371999
|
0.00585
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_007356.3(LAMB4):c.350G>C (p.Arg117Thr)
|
rs149874137
|
0.00583
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
NM_003737.4(DCHS1):c.596C>G (p.Pro199Arg)
|
rs114142691
|
0.00579
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_001556.3(IKBKB):c.2028G>A (p.Met676Ile)
|
rs78448523
|
0.00575
|
NM_015268.4(DNAJC13):c.2369C>A (p.Ser790Tyr)
|
rs149121829
|
0.00575
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu)
|
rs5746220
|
0.00571
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)
|
rs33971253
|
0.00570
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)
|
rs113869406
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)
|
rs17216663
|
0.00569
|
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu)
|
rs6844109
|
0.00569
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_153252.5(BRWD3):c.2325+5G>A
|
rs186391561
|
0.00565
|
NM_001142864.4(PIEZO1):c.4495+4C>T
|
rs140520334
|
0.00562
|
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu)
|
rs140909116
|
0.00562
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)
|
rs112223093
|
0.00560
|
NM_001009944.3(PKD1):c.11537+3_11537+5dup
|
rs201204878
|
0.00559
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_021098.3(CACNA1H):c.5324-4G>A
|
rs57687113
|
0.00558
|
NM_000426.4(LAMA2):c.4437-5T>A
|
rs41285288
|
0.00557
|
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn)
|
rs116988549
|
0.00557
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=)
|
rs61730326
|
0.00553
|
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=)
|
rs61730328
|
0.00553
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_003922.4(HERC1):c.4714T>G (p.Ser1572Ala)
|
rs16947363
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp)
|
rs10249320
|
0.00549
|
NM_001942.4(DSG1):c.2914G>A (p.Gly972Ser)
|
rs1042755
|
0.00549
|
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)
|
rs35114079
|
0.00549
|
NM_001130823.3(DNMT1):c.2382-4C>T
|
rs74505694
|
0.00548
|
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)
|
rs150515843
|
0.00548
|
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)
|
rs35089085
|
0.00547
|
NM_001845.6(COL4A1):c.393G>A (p.Glu131=)
|
rs34458255
|
0.00546
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_001291303.3(FAT4):c.6219A>G (p.Gln2073=)
|
rs35355603
|
0.00545
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)
|
rs149172490
|
0.00540
|
NM_000266.4(NDP):c.69C>G (p.Asp23Glu)
|
rs5952410
|
0.00538
|
NM_004247.4(EFTUD2):c.1058+3_1058+7del
|
rs536749831
|
0.00538
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=)
|
rs34352064
|
0.00535
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)
|
rs149814240
|
0.00533
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile)
|
rs142777778
|
0.00526
|
NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr)
|
rs146233988
|
0.00526
|
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu)
|
rs148624326
|
0.00526
|
NM_001286577.2(C2CD3):c.3695A>G (p.Asn1232Ser)
|
rs140307393
|
0.00525
|
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)
|
rs76956231
|
0.00520
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=)
|
rs141714960
|
0.00519
|
NM_019066.5(MAGEL2):c.2633C>T (p.Pro878Leu)
|
rs2233067
|
0.00519
|
NM_001369268.1(ACAN):c.4120G>A (p.Gly1374Arg)
|
rs201302102
|
0.00518
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_001555.5(IGSF1):c.2132G>C (p.Gly711Ala)
|
rs146715796
|
0.00517
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn)
|
rs61737182
|
0.00515
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00515
|
NM_000540.3(RYR1):c.10938-17A>G
|
rs181147531
|
0.00513
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=)
|
rs145376880
|
0.00513
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_005633.4(SOS1):c.2167+6T>G
|
rs186640807
|
0.00510
|
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu)
|
rs73394756
|
0.00510
|
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)
|
rs148164067
|
0.00508
|
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00508
|
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)
|
rs117566084
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)
|
rs117856830
|
0.00507
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)
|
rs143708376
|
0.00505
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)
|
rs112010940
|
0.00503
|
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser)
|
rs113897824
|
0.00503
|
NM_006267.5(RANBP2):c.7849+4A>G
|
rs2949961
|
0.00502
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00502
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_015158.5(KANK1):c.3553+5G>A
|
rs114914725
|
0.00501
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_020376.4(PNPLA2):c.919+4C>T
|
rs148314086
|
0.00500
|
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val)
|
rs62638623
|
0.00498
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_001040108.2(MLH3):c.3987+15C>T
|
rs117251698
|
0.00496
|
NM_006915.3(RP2):c.260C>T (p.Thr87Ile)
|
rs147783915
|
0.00496
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970
|
0.00495
|
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)
|
rs41287102
|
0.00495
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)
|
rs75831573
|
0.00493
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001846.4(COL4A2):c.3634+13G>A
|
rs188658233
|
0.00491
|
NM_002578.5(PAK3):c.276+2659T>C
|
rs142890115
|
0.00491
|
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg)
|
rs72824905
|
0.00491
|
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met)
|
rs141675330
|
0.00491
|
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu)
|
rs181736584
|
0.00490
|
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys)
|
rs144665682
|
0.00490
|
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)
|
rs61730896
|
0.00489
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
NM_000142.5(FGFR3):c.663G>A (p.Ser221=)
|
rs114421370
|
0.00485
|
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr)
|
rs140980374
|
0.00485
|
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)
|
rs140088745
|
0.00485
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
NM_018112.3(TMEM38B):c.113-7A>G
|
rs186864213
|
0.00484
|
NM_001308093.3(GATA4):c.1150-20G>A
|
rs114345849
|
0.00483
|
NM_001378778.1(MPDZ):c.2458C>G (p.Leu820Val)
|
rs73647114
|
0.00482
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs)
|
rs533676902
|
0.00478
|
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr)
|
rs79992793
|
0.00478
|
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)
|
rs12721379
|
0.00478
|
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly)
|
rs61752484
|
0.00477
|
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)
|
rs74385837
|
0.00475
|
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)
|
rs375160616
|
0.00475
|
NM_133459.4(CCBE1):c.195G>A (p.Glu65=)
|
rs116673304
|
0.00475
|
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn)
|
rs10404156
|
0.00473
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met)
|
rs144600070
|
0.00471
|
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)
|
rs112524097
|
0.00471
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)
|
rs144830740
|
0.00471
|
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser)
|
rs61743977
|
0.00470
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_031418.4(ANO3):c.164C>T (p.Ser55Phe)
|
rs61746297
|
0.00470
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val)
|
rs144723964
|
0.00467
|
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)
|
rs62636640
|
0.00466
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00463
|
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=)
|
rs150468696
|
0.00463
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00461
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_017739.4(POMGNT1):c.120+13C>T
|
rs12737140
|
0.00459
|
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala)
|
rs143730975
|
0.00459
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)
|
rs150865922
|
0.00456
|
NM_001348716.2(KDM6B):c.625G>T (p.Val209Leu)
|
rs148641957
|
0.00454
|
NM_001853.4(COL9A3):c.209C>T (p.Pro70Leu)
|
rs143307835
|
0.00454
|
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)
|
rs61744639
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_020812.4(DOCK6):c.434G>A (p.Arg145Gln)
|
rs140883567
|
0.00446
|
NM_053274.3(GLMN):c.436G>A (p.Ala146Thr)
|
rs61754623
|
0.00445
|
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=)
|
rs35597347
|
0.00444
|
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val)
|
rs35313240
|
0.00443
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg)
|
rs142411445
|
0.00438
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)
|
rs12998234
|
0.00437
|
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr)
|
rs80097260
|
0.00437
|
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)
|
rs138628273
|
0.00437
|
NM_000317.3(PTS):c.315-3T>C
|
rs189365250
|
0.00436
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
NM_001171.6(ABCC6):c.3980G>A (p.Gly1327Glu)
|
rs57695665
|
0.00432
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_203290.4(POLR1C):c.634A>G (p.Met212Val)
|
rs79222964
|
0.00431
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_001288705.3(CSF1R):c.1626+13G>A
|
rs115895865
|
0.00429
|
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)
|
rs58093963
|
0.00429
|
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)
|
rs75145370
|
0.00429
|
NM_001379451.1(BCORL1):c.783G>A (p.Ala261=)
|
rs61752973
|
0.00428
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)
|
rs144637135
|
0.00427
|
NM_006129.5(BMP1):c.1112G>A (p.Arg371His)
|
rs145284541
|
0.00427
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)
|
rs186848953
|
0.00427
|
NM_001174147.2(LMX1B):c.886+28G>A
|
rs150656317
|
0.00426
|
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp)
|
rs35734447
|
0.00426
|
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)
|
rs141088838
|
0.00423
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_153252.5(BRWD3):c.33G>A (p.Glu11=)
|
rs139071237
|
0.00422
|
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu)
|
rs72547554
|
0.00421
|
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)
|
rs41291570
|
0.00421
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000789.4(ACE):c.2747C>T (p.Thr916Met)
|
rs3730043
|
0.00420
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys)
|
rs61750006
|
0.00419
|
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu)
|
rs61758802
|
0.00418
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_000208.4(INSR):c.870C>T (p.His290=)
|
rs74483718
|
0.00416
|
NM_144508.5(KNL1):c.451A>G (p.Met151Val)
|
rs35146555
|
0.00416
|
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)
|
rs142027794
|
0.00415
|
NM_000426.4(LAMA2):c.3556-15T>G
|
rs17741922
|
0.00414
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)
|
rs41283145
|
0.00414
|
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)
|
rs149660059
|
0.00412
|
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn)
|
rs34219046
|
0.00411
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001364171.2(ODAD1):c.856G>A (p.Gly286Arg)
|
rs73942222
|
0.00411
|
NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met)
|
rs147554257
|
0.00411
|
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)
|
rs184422577
|
0.00410
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val)
|
rs182239885
|
0.00407
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)
|
rs144860976
|
0.00405
|
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val)
|
rs74970544
|
0.00405
|
NM_000540.3(RYR1):c.1923C>G (p.Thr641=)
|
rs116591968
|
0.00404
|
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser)
|
rs56098093
|
0.00404
|
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His)
|
rs35106300
|
0.00404
|
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)
|
rs116164892
|
0.00404
|
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=)
|
rs146381488
|
0.00404
|
NM_001458.5(FLNC):c.1549+15C>A
|
rs181134489
|
0.00403
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met)
|
rs141727248
|
0.00403
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00403
|
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile)
|
rs77419653
|
0.00403
|
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp)
|
rs144610086
|
0.00403
|
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)
|
rs186670912
|
0.00400
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
0.00398
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)
|
rs7587103
|
0.00394
|
NM_004655.4(AXIN2):c.1410C>T (p.His470=)
|
rs149483825
|
0.00394
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe)
|
rs200066623
|
0.00390
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro)
|
rs147947060
|
0.00389
|
NM_006005.3(WFS1):c.917T>C (p.Met306Thr)
|
rs146114074
|
0.00389
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)
|
rs79901179
|
0.00388
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_001372044.2:c.1116C>T (p.Ser372=)
|
rs201282170
|
0.00386
|
NM_030632.3(ASXL3):c.1116C>T (p.Leu372=)
|
rs117356074
|
0.00386
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001374828.1(ARID1B):c.3235+6C>T
|
rs148976215
|
0.00384
|
NM_001807.6(CEL):c.1828T>G (p.Ser610Ala)
|
rs1252154279
|
0.00382
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
NM_001371986.1(UNC80):c.1620C>G (p.Ser540=)
|
rs182186415
|
0.00381
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00379
|
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His)
|
rs113045747
|
0.00379
|
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met)
|
rs116600265
|
0.00379
|
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=)
|
rs56294552
|
0.00378
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)
|
rs145906515
|
0.00377
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
NM_000327.4(ROM1):c.686G>A (p.Arg229His)
|
rs150168119
|
0.00375
|
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)
|
rs41313282
|
0.00375
|
NM_001614.5(ACTG1):c.-6-3C>T
|
rs140724578
|
0.00374
|
NM_183235.3(RAB27A):c.594G>A (p.Val198=)
|
rs141222527
|
0.00374
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu)
|
rs149910292
|
0.00372
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=)
|
rs145230931
|
0.00368
|
NM_000435.3(NOTCH3):c.3719-11C>T
|
rs78907190
|
0.00367
|
NM_006005.3(WFS1):c.225C>T (p.Asp75=)
|
rs35216268
|
0.00366
|
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)
|
rs187333111
|
0.00365
|
NM_005267.5(GJA8):c.741T>G (p.Ile247Met)
|
rs80358202
|
0.00365
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln)
|
rs3918020
|
0.00363
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr)
|
rs182428755
|
0.00362
|
NM_005257.6(GATA6):c.1602A>G (p.Thr534=)
|
rs146949786
|
0.00362
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_001383.6(DPH1):c.731C>G (p.Pro244Arg)
|
rs80150196
|
0.00361
|
NM_015662.3(IFT172):c.4540-6C>T
|
rs146140583
|
0.00361
|
NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=)
|
rs73892912
|
0.00360
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=)
|
rs141225367
|
0.00359
|
NM_004318.4(ASPH):c.844C>T (p.Pro282Ser)
|
rs141197241
|
0.00359
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)
|
rs116185403
|
0.00357
|
NM_001555.5(IGSF1):c.3228G>C (p.Met1076Ile)
|
rs145402054
|
0.00356
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val)
|
rs35370270
|
0.00355
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00354
|
NM_001101.5(ACTB):c.426G>T (p.Leu142=)
|
rs79074016
|
0.00353
|
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_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
NM_001143992.2(WRAP53):c.823-10C>T
|
rs117192546
|
0.00352
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001243133.2(NLRP3):c.397+7G>A
|
rs192297357
|
0.00350
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00349
|
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=)
|
rs148902254
|
0.00349
|
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)
|
rs28910273
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_001098816.3(TENM4):c.2804C>G (p.Pro935Arg)
|
rs141706152
|
0.00347
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)
|
rs61731011
|
0.00345
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)
|
rs145809663
|
0.00344
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_013382.7(POMT2):c.2148-18A>G
|
rs138488805
|
0.00343
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr)
|
rs181368820
|
0.00342
|
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)
|
rs114460450
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_001793.6(CDH3):c.805A>C (p.Met269Leu)
|
rs36038900
|
0.00341
|
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)
|
rs187956469
|
0.00341
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=)
|
rs41274506
|
0.00338
|
NM_001330677.2(TBX15):c.522A>G (p.Arg174=)
|
rs61730014
|
0.00337
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_014008.5(CCDC22):c.536-7C>T
|
rs191605685
|
0.00334
|
NM_198407.2(GHSR):c.531C>A (p.Pro177=)
|
rs4988509
|
0.00334
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg)
|
rs116593093
|
0.00333
|
NM_000142.5(FGFR3):c.1535-8G>T
|
rs111460786
|
0.00332
|
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)
|
rs149042427
|
0.00332
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu)
|
rs202217944
|
0.00330
|
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)
|
rs112387277
|
0.00329
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)
|
rs4647928
|
0.00328
|
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile)
|
rs73000144
|
0.00328
|
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile)
|
rs117908591
|
0.00328
|
NM_000687.4(AHCY):c.274A>G (p.Ile92Val)
|
rs11552695
|
0.00327
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=)
|
rs200006106
|
0.00326
|
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)
|
rs200575795
|
0.00326
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_001099922.3(ALG13):c.2248-4A>G
|
rs370438099
|
0.00325
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu)
|
rs28757008
|
0.00323
|
NM_001080414.4(CCDC88C):c.891+8G>A
|
rs11851272
|
0.00323
|
NM_001606.5(ABCA2):c.5134G>A (p.Gly1712Ser)
|
rs149871834
|
0.00323
|
NM_002521.3(NPPB):c.280G>T (p.Val94Phe)
|
rs35640285
|
0.00323
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000032.5(ALAS2):c.-15-1790G>A
|
rs189947718
|
0.00322
|
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)
|
rs11553545
|
0.00322
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00321
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)
|
rs35488756
|
0.00320
|
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val)
|
rs149428057
|
0.00320
|
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
|
rs61749879
|
0.00320
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_006121.4(KRT1):c.592-8G>A
|
rs147622831
|
0.00319
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00316
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_020921.4(NIN):c.3197T>A (p.Val1066Asp)
|
rs78280523
|
0.00316
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_001267550.2(TTN):c.25921+20G>A
|
rs148460010
|
0.00315
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_001845.6(COL4A1):c.4755+18C>T
|
rs191620431
|
0.00315
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_000726.5(CACNB4):c.599-15G>A
|
rs41270209
|
0.00314
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_001372106.1(DNAH10):c.11213C>T (p.Thr3738Ile)
|
rs202063832
|
0.00313
|
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg)
|
rs35101495
|
0.00313
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile)
|
rs148478410
|
0.00312
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe)
|
rs34911705
|
0.00309
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu)
|
rs147194699
|
0.00309
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
NM_001555.5(IGSF1):c.1247-8G>C
|
rs184648797
|
0.00306
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=)
|
rs11538140
|
0.00305
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=)
|
rs72561481
|
0.00303
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_144773.4(PROKR2):c.151G>A (p.Ala51Thr)
|
rs144994507
|
0.00303
|
NM_001189.4(NKX3-2):c.323C>G (p.Ala108Gly)
|
rs202191746
|
0.00302
|
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
|
rs149011965
|
0.00302
|
NM_198252.3(GSN):c.243C>T (p.Thr81=)
|
rs116956127
|
0.00302
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln)
|
rs149933083
|
0.00301
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
NM_001130823.3(DNMT1):c.891+8C>T
|
rs117294281
|
0.00299
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)
|
rs141014640
|
0.00299
|
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)
|
rs28365117
|
0.00299
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)
|
rs142549310
|
0.00298
|
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)
|
rs62620041
|
0.00297
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)
|
rs143324306
|
0.00297
|
NM_000142.5(FGFR3):c.1076-16G>A
|
rs3135889
|
0.00296
|
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg)
|
rs148585367
|
0.00296
|
NM_002470.4(MYH3):c.2926-8C>T
|
rs188588330
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000435.3(NOTCH3):c.2411-4C>G
|
rs190177286
|
0.00295
|
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)
|
rs202076833
|
0.00295
|
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)
|
rs148076109
|
0.00295
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)
|
rs200424850
|
0.00294
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)
|
rs36098987
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_000142.5(FGFR3):c.393G>A (p.Ser131=)
|
rs55662109
|
0.00292
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=)
|
rs113299143
|
0.00291
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_005861.4(STUB1):c.326G>A (p.Ser109Asn)
|
rs148553428
|
0.00289
|
NM_170606.3(KMT2C):c.1173C>A (p.Cys391Ter)
|
rs146238849
|
0.00289
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)
|
rs142747281
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=)
|
rs145020302
|
0.00287
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_001378477.3(NYX):c.1229G>A (p.Ser410Asn)
|
rs149170016
|
0.00285
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
NM_001205019.2(GK):c.748-5A>T
|
rs186543786
|
0.00284
|
NM_001189.4(NKX3-2):c.235A>T (p.Thr79Ser)
|
rs200167000
|
0.00283
|
NM_001291415.2(KDM6A):c.1683+3G>A
|
rs61751429
|
0.00283
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_001039591.3(USP9X):c.6084C>T (p.Pro2028=)
|
rs146661515
|
0.00282
|
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)
|
rs151283330
|
0.00282
|
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg)
|
rs199976372
|
0.00281
|
NM_003737.4(DCHS1):c.2996G>A (p.Arg999Gln)
|
rs111781030
|
0.00281
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His)
|
rs139803629
|
0.00280
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
NM_002181.4(IHH):c.315+8C>T
|
rs186249490
|
0.00278
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
NM_014994.3(MAPKBP1):c.1156G>A (p.Val386Ile)
|
rs75869993
|
0.00278
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
NM_001348800.3(ZBTB20):c.1250C>G (p.Ala417Gly)
|
rs149352178
|
0.00277
|
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His)
|
rs72803461
|
0.00277
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)
|
rs35398714
|
0.00276
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_001171020.2(PWWP3B):c.1001T>C (p.Met334Thr)
|
rs200704905
|
0.00275
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
NM_006218.4(PIK3CA):c.2016-12C>T
|
rs147286696
|
0.00275
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
0.00274
|
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
|
rs121917810
|
0.00274
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=)
|
rs71530911
|
0.00274
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_001031725.6(DDX59):c.148G>C (p.Ala50Pro)
|
rs150913822
|
0.00272
|
NM_001031725.6(DDX59):c.251G>C (p.Ser84Thr)
|
rs146060105
|
0.00272
|
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)
|
rs147584361
|
0.00272
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00271
|
NM_016379.4(VCX3A):c.388G>C (p.Val130Leu)
|
rs780354662
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly)
|
rs183111586
|
0.00270
|
NM_001308210.2(TSHZ1):c.1843G>A (p.Ala615Thr)
|
rs149729975
|
0.00269
|
NM_006005.3(WFS1):c.1674C>T (p.Arg558=)
|
rs61735402
|
0.00269
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu)
|
rs137900287
|
0.00268
|
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=)
|
rs151278626
|
0.00268
|
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val)
|
rs146841330
|
0.00265
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
NM_000557.5(GDF5):c.388G>A (p.Gly130Arg)
|
rs114550865
|
0.00263
|
NM_001379500.1(COL18A1):c.1675-6G>A
|
rs142726108
|
0.00263
|
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly)
|
rs201652303
|
0.00262
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=)
|
rs190361551
|
0.00262
|
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr)
|
rs35903812
|
0.00262
|
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)
|
rs148468628
|
0.00262
|
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_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)
|
rs112332762
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)
|
rs138723423
|
0.00259
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)
|
rs41287092
|
0.00258
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=)
|
rs56051835
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)
|
rs147223770
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_198252.3(GSN):c.597C>T (p.Asn199=)
|
rs146329975
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_012464.5(TLL1):c.811+6A>G
|
rs143316816
|
0.00257
|
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser)
|
rs138332224
|
0.00257
|
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)
|
rs143226202
|
0.00257
|
NM_001141919.2(XG):c.455-3C>T
|
rs202025841
|
0.00256
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=)
|
rs201247776
|
0.00256
|
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser)
|
rs144665176
|
0.00255
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_001283009.2(RTEL1):c.3823-5C>G
|
rs141522376
|
0.00252
|
NM_001458.5(FLNC):c.4737+15A>G
|
rs182734223
|
0.00252
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_006005.3(WFS1):c.1158C>T (p.Pro386=)
|
rs71524354
|
0.00252
|
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln)
|
rs142647321
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_138711.6(PPARG):c.1362C>T (p.Ile454=)
|
rs149367249
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00249
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_001457.4(FLNB):c.4222+8A>G
|
rs190025781
|
0.00248
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
NM_001853.4(COL9A3):c.1549-4C>A
|
rs190389066
|
0.00247
|
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=)
|
rs55737335
|
0.00247
|
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)
|
rs138140155
|
0.00247
|
NM_003467.3(CXCR4):c.783C>T (p.Ile261=)
|
rs148279552
|
0.00246
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000875.5(IGF1R):c.2782+17G>A
|
rs186895929
|
0.00244
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg)
|
rs140055438
|
0.00242
|
NM_001421.4(ELF4):c.1810C>T (p.Arg604Cys)
|
rs141284451
|
0.00242
|
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)
|
rs144765752
|
0.00242
|
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)
|
rs201370957
|
0.00242
|
NM_006031.6(PCNT):c.9274-3C>T
|
rs200348425
|
0.00242
|
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu)
|
rs75616428
|
0.00240
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser)
|
rs71578980
|
0.00239
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
NM_022552.5(DNMT3A):c.801C>T (p.Ser267=)
|
rs116609083
|
0.00237
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile)
|
rs150900514
|
0.00236
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser)
|
rs12837393
|
0.00234
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
NM_001308093.3(GATA4):c.462C>T (p.Phe154=)
|
rs56348550
|
0.00232
|
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)
|
rs56180593
|
0.00232
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)
|
rs148641800
|
0.00232
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_001080467.3(MYO5B):c.1057-4A>G
|
rs138582195
|
0.00231
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_005257.6(GATA6):c.1374C>T (p.Asn458=)
|
rs143026087
|
0.00230
|
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His)
|
rs148870219
|
0.00229
|
NM_001457.4(FLNB):c.274A>G (p.Ile92Val)
|
rs62622011
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)
|
rs117525287
|
0.00228
|
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)
|
rs35301526
|
0.00228
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_005883.3(APC2):c.5396C>T (p.Pro1799Leu)
|
rs73516821
|
0.00227
|
NM_006135.3(CAPZA1):c.34G>A (p.Glu12Lys)
|
rs149653791
|
0.00227
|
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn)
|
rs78086631
|
0.00226
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)
|
rs111227648
|
0.00226
|
NM_182699.4(DDX53):c.319G>T (p.Ala107Ser)
|
rs148588561
|
0.00225
|
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=)
|
rs113137721
|
0.00225
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00224
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_002016.2(FLG):c.6803A>G (p.His2268Arg)
|
rs150122015
|
0.00223
|
NM_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_005559.4(LAMA1):c.2186G>A (p.Arg729His)
|
rs144429570
|
0.00222
|
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=)
|
rs201793890
|
0.00221
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys)
|
rs147206089
|
0.00220
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_006412.4(AGPAT2):c.182+8C>T
|
rs199860398
|
0.00220
|
NM_014028.4(OSTM1):c.615+8A>G
|
rs144204437
|
0.00220
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
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_032608.7(MYO18B):c.2377-4G>A
|
rs200030443
|
0.00219
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
0.00217
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_001348716.2(KDM6B):c.1925C>T (p.Pro642Leu)
|
rs201403136
|
0.00216
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
|
rs2066520
|
0.00215
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg)
|
rs74039425
|
0.00213
|
NM_001127222.2(CACNA1A):c.1345+7C>T
|
rs192536793
|
0.00213
|
NM_006005.3(WFS1):c.712+16G>A
|
rs71524367
|
0.00213
|
NM_000334.4(SCN4A):c.1100+7G>A
|
rs200770684
|
0.00212
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_020745.4(AARS2):c.2253G>A (p.Gly751=)
|
rs78397386
|
0.00210
|
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)
|
rs140381459
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_001303052.2(MYT1L):c.153-7T>A
|
rs191453776
|
0.00208
|
NM_002471.4(MYH6):c.3979-7dup
|
rs545343612
|
0.00208
|
NM_004456.5(EZH2):c.1852-6C>T
|
rs78589034
|
0.00208
|
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=)
|
rs41306796
|
0.00207
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)
|
rs141663679
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
NM_001625.4(AK2):c.602A>T (p.Tyr201Phe)
|
rs113711467
|
0.00206
|
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)
|
rs147232392
|
0.00206
|
NM_000346.4(SOX9):c.685+8G>A
|
rs117696751
|
0.00205
|
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr)
|
rs137960641
|
0.00205
|
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val)
|
rs146141075
|
0.00205
|
NM_152703.5(SAMD9L):c.3027T>C (p.Cys1009=)
|
rs149908158
|
0.00205
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=)
|
rs139809959
|
0.00204
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=)
|
rs144370969
|
0.00202
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000493.4(COL10A1):c.593G>A (p.Arg198His)
|
rs148785195
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_005032.7(PLS3):c.925A>G (p.Ile309Val)
|
rs140968059
|
0.00200
|
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr)
|
rs201070741
|
0.00200
|
NM_001308093.3(GATA4):c.99G>T (p.Ala33=)
|
rs56166237
|
0.00199
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_194318.4(B3GLCT):c.271-8T>C
|
rs183322816
|
0.00199
|
NM_000875.5(IGF1R):c.1949G>A (p.Arg650Gln)
|
rs61731172
|
0.00198
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_004958.4(MTOR):c.663C>G (p.Thr221=)
|
rs112439072
|
0.00198
|
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr)
|
rs148679597
|
0.00196
|
NM_002016.2(FLG):c.8660A>C (p.Gln2887Pro)
|
rs143280202
|
0.00196
|
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)
|
rs35413340
|
0.00196
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
NM_203447.4(DOCK8):c.4024-4C>T
|
rs111306749
|
0.00196
|
NM_000051.4(ATM):c.8269-14A>T
|
rs114320959
|
0.00195
|
NM_001321120.2(TBX4):c.703-8C>T
|
rs188695560
|
0.00195
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)
|
rs142934522
|
0.00195
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00195
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=)
|
rs140210015
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721
|
0.00191
|
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)
|
rs149278319
|
0.00191
|
NM_138289.4(ACTRT1):c.547dup (p.Met183fs)
|
rs771087307
|
0.00191
|
NM_001197104.2(KMT2A):c.10318A>G (p.Ile3440Val)
|
rs117099452
|
0.00190
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)
|
rs144015992
|
0.00190
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_001204375.2(NPR3):c.1388G>A (p.Arg463Gln)
|
rs41270319
|
0.00189
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00188
|
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751
|
0.00188
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00187
|
NM_000572.3(IL10):c.43G>A (p.Gly15Arg)
|
rs145922845
|
0.00186
|
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys)
|
rs141224456
|
0.00186
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_130398.4(EXO1):c.820G>A (p.Gly274Arg)
|
rs149397534
|
0.00185
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=)
|
rs3741341
|
0.00183
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
0.00183
|
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr)
|
rs138399473
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)
|
rs147788838
|
0.00182
|
NM_002181.4(IHH):c.873G>A (p.Arg291=)
|
rs149554120
|
0.00182
|
NM_020859.4(SHROOM3):c.2153G>A (p.Arg718Gln)
|
rs114419726
|
0.00182
|
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)
|
rs146512619
|
0.00181
|
NM_001666.5(ARHGAP4):c.932C>T (p.Ala311Val)
|
rs145727816
|
0.00181
|
NM_001846.4(COL4A2):c.316-17dup
|
rs201980714
|
0.00181
|
NM_020738.4(KIDINS220):c.3586-7T>C
|
rs139887022
|
0.00180
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
NM_000330.4(RS1):c.548C>T (p.Thr183Ile)
|
rs150172233
|
0.00178
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000222.3(KIT):c.2805T>A (p.Ile935=)
|
rs72549296
|
0.00176
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00176
|
NM_005157.6(ABL1):c.2116G>A (p.Gly706Ser)
|
rs143837301
|
0.00176
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=)
|
rs28763923
|
0.00175
|
NM_005450.6(NOG):c.275G>A (p.Gly92Glu)
|
rs199566527
|
0.00175
|
NM_015072.5(TTLL5):c.2603-3T>C
|
rs185326652
|
0.00175
|
NM_000797.4(DRD4):c.860A>C (p.Gln287Pro)
|
rs769762387
|
0.00174
|
NM_001715.3(BLK):c.711C>T (p.Pro237=)
|
rs143699141
|
0.00174
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00173
|
NM_020754.4(ARHGAP31):c.349-7T>G
|
rs200397968
|
0.00173
|
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)
|
rs148721221
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp)
|
rs139293796
|
0.00171
|
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp)
|
rs143258862
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser)
|
rs143895379
|
0.00169
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00165
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_001042413.2(GLIS3):c.1090C>T (p.Pro364Ser)
|
rs143056249
|
0.00165
|
NM_001852.4(COL9A2):c.250-7T>C
|
rs146943340
|
0.00165
|
NM_004655.4(AXIN2):c.1200+19T>C
|
rs116931989
|
0.00165
|
NM_005157.6(ABL1):c.2040C>T (p.Gly680=)
|
rs200800111
|
0.00165
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_002181.4(IHH):c.618C>T (p.Ala206=)
|
rs3731879
|
0.00163
|
NM_004655.4(AXIN2):c.1200+18T>G
|
rs117258157
|
0.00163
|
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser)
|
rs11557600
|
0.00162
|
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=)
|
rs137925121
|
0.00162
|
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)
|
rs148329158
|
0.00162
|
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr)
|
rs201149160
|
0.00162
|
NM_014822.4(SEC24D):c.181C>A (p.Pro61Thr)
|
rs143180885
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_001807.6(CEL):c.1410C>T (p.Pro470=)
|
rs116169391
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr)
|
rs35218685
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001369.3(DNAH5):c.5882+6G>A
|
rs377640010
|
0.00158
|
NM_007118.4(TRIO):c.6914G>A (p.Gly2305Asp)
|
rs552613615
|
0.00158
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)
|
rs147189224
|
0.00157
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu)
|
rs201092215
|
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_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
NM_018896.5(CACNA1G):c.895G>A (p.Gly299Ser)
|
rs201875227
|
0.00155
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu)
|
rs200815663
|
0.00154
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_002910.6(RENBP):c.29A>G (p.Asp10Gly)
|
rs138548063
|
0.00154
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001846.4(COL4A2):c.3346+7A>G
|
rs201020737
|
0.00153
|
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)
|
rs143885622
|
0.00152
|
NM_000618.5(IGF1):c.207G>A (p.Arg69=)
|
rs147960415
|
0.00152
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00152
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
NM_006005.3(WFS1):c.1491C>T (p.Val497=)
|
rs148310584
|
0.00151
|
NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser)
|
rs150861758
|
0.00151
|
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)
|
rs141479751
|
0.00150
|
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
|
rs144593342
|
0.00150
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu)
|
rs138908625
|
0.00150
|
NM_201384.3(PLEC):c.3543C>T (p.Val1181=)
|
rs202185399
|
0.00150
|
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)
|
rs199706377
|
0.00149
|
NM_020812.4(DOCK6):c.5939+6C>T
|
rs200393834
|
0.00149
|
NM_152424.4(AMER1):c.401A>C (p.His134Pro)
|
rs146489129
|
0.00149
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00148
|
NM_001369268.1(ACAN):c.230G>A (p.Arg77His)
|
rs199701329
|
0.00147
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
NM_019066.5(MAGEL2):c.853G>A (p.Gly285Arg)
|
rs143908070
|
0.00147
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile)
|
rs75329154
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=)
|
rs146635122
|
0.00145
|
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu)
|
rs151344452
|
0.00144
|
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)
|
rs533569454
|
0.00144
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=)
|
rs146702999
|
0.00143
|
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)
|
rs146115506
|
0.00143
|
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)
|
rs141575580
|
0.00142
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00142
|
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile)
|
rs200926181
|
0.00142
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_001130823.3(DNMT1):c.81-3C>T
|
rs76503110
|
0.00141
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_007118.4(TRIO):c.34G>A (p.Ala12Thr)
|
rs1045136451
|
0.00141
|
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)
|
rs150516342
|
0.00141
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
NM_004958.4(MTOR):c.1830C>T (p.Phe610=)
|
rs139687094
|
0.00140
|
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)
|
rs142951817
|
0.00140
|
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)
|
rs112762655
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_018026.4(PACS1):c.535-4G>A
|
rs112192900
|
0.00140
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)
|
rs117433399
|
0.00136
|
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
|
rs200643329
|
0.00136
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
NM_007315.4(STAT1):c.1222-5T>C
|
rs191364028
|
0.00135
|
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)
|
rs201148948
|
0.00134
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)
|
rs145139708
|
0.00134
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_005401.5(PTPN14):c.581+5G>A
|
rs143408016
|
0.00132
|
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu)
|
rs2233062
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)
|
rs200161440
|
0.00131
|
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=)
|
rs140803915
|
0.00131
|
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)
|
rs143236410
|
0.00131
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
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_006201.5(CDK16):c.727C>T (p.Leu243=)
|
rs145117961
|
0.00130
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser)
|
rs143519179
|
0.00129
|
NM_012448.4(STAT5B):c.376-15C>G
|
rs201981865
|
0.00129
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile)
|
rs147676957
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe)
|
rs369291413
|
0.00127
|
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)
|
rs151043891
|
0.00127
|
NM_014687.4(RUBCN):c.430G>A (p.Gly144Arg)
|
rs115638090
|
0.00127
|
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe)
|
rs150785981
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln)
|
rs139048741
|
0.00126
|
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn)
|
rs141155944
|
0.00126
|
NM_138420.4(AHNAK2):c.5855C>T (p.Pro1952Leu)
|
rs79599750
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)
|
rs201797790
|
0.00125
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_002024.6(FMR1):c.1572C>T (p.Ser524=)
|
rs143889976
|
0.00125
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_001267550.2(TTN):c.1398+16C>T
|
rs144043280
|
0.00124
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_001101426.4(CRPPA):c.790-14T>C
|
rs142414812
|
0.00123
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln)
|
rs148803059
|
0.00122
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)
|
rs147393700
|
0.00121
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)
|
rs201996097
|
0.00121
|
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=)
|
rs139500905
|
0.00121
|
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)
|
rs201217824
|
0.00120
|
NM_001197104.2(KMT2A):c.11505T>G (p.Gly3835=)
|
rs142948344
|
0.00120
|
NM_018668.5(VPS33B):c.357G>A (p.Lys119=)
|
rs146758743
|
0.00120
|
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)
|
rs141783863
|
0.00119
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe)
|
rs35346077
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)
|
rs200957146
|
0.00118
|
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)
|
rs199862615
|
0.00118
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser)
|
rs2433786
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile)
|
rs142946078
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
NM_001845.6(COL4A1):c.904-9C>T
|
rs201481886
|
0.00116
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_002024.6(FMR1):c.1857C>T (p.Asp619=)
|
rs45540244
|
0.00115
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
NM_053274.3(GLMN):c.271G>A (p.Asp91Asn)
|
rs144577963
|
0.00115
|
NM_000038.6(APC):c.423-17T>A
|
rs534684461
|
0.00114
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys)
|
rs139081024
|
0.00114
|
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr)
|
rs199936876
|
0.00114
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser)
|
rs146464648
|
0.00113
|
NM_020297.4(ABCC9):c.798T>C (p.Asp266=)
|
rs138356189
|
0.00113
|
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp)
|
rs36023964
|
0.00112
|
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)
|
rs150615457
|
0.00112
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)
|
rs146081967
|
0.00111
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_020717.5(SHROOM4):c.1972A>G (p.Met658Val)
|
rs188714648
|
0.00110
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)
|
rs140987045
|
0.00109
|
NM_016379.4(VCX3A):c.505C>G (p.Gln169Glu)
|
rs137964452
|
0.00109
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_001009944.3(PKD1):c.9924-11C>T
|
rs201154266
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=)
|
rs58914363
|
0.00108
|
NM_006267.5(RANBP2):c.783-6T>C
|
rs138540027
|
0.00108
|
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly)
|
rs139759084
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
NM_001130823.3(DNMT1):c.493+8C>T
|
rs138998574
|
0.00107
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=)
|
rs140594137
|
0.00106
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys)
|
rs148911180
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
NM_001184.4(ATR):c.7041+8G>A
|
rs201106004
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)
|
rs146555195
|
0.00103
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_020806.5(GPHN):c.26C>G (p.Thr9Ser)
|
rs150226537
|
0.00100
|
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)
|
rs142307556
|
0.00100
|
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)
|
rs143891379
|
0.00100
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg)
|
rs2305178
|
0.00097
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00097
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
NM_005491.5(MAMLD1):c.605C>T (p.Thr202Met)
|
rs146555522
|
0.00097
|
NM_024921.4(POF1B):c.943C>T (p.Arg315Cys)
|
rs149085556
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_020921.4(NIN):c.4937G>A (p.Arg1646His)
|
rs149669464
|
0.00096
|
NM_001368397.1(FRMPD4):c.388G>A (p.Ala130Thr)
|
rs139449383
|
0.00095
|
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=)
|
rs201762977
|
0.00095
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala)
|
rs114719990
|
0.00095
|
NM_000426.4(LAMA2):c.2755C>T (p.Arg919Cys)
|
rs138018456
|
0.00094
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
NM_030665.4(RAI1):c.840_843del (p.Gln280fs)
|
rs775735568
|
0.00094
|
NM_138382.3(RIPPLY1):c.362A>G (p.Asn121Ser)
|
rs41306259
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn)
|
rs142242633
|
0.00093
|
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln)
|
rs55968949
|
0.00093
|
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)
|
rs138061928
|
0.00093
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00093
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_006015.6(ARID1A):c.3716-7C>T
|
rs150792057
|
0.00090
|
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn)
|
rs139339184
|
0.00090
|
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)
|
rs151095402
|
0.00090
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro)
|
rs146191865
|
0.00089
|
NM_001288705.3(CSF1R):c.835G>A (p.Val279Met)
|
rs3829986
|
0.00089
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met)
|
rs141025026
|
0.00088
|
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
|
rs373605761
|
0.00088
|
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)
|
rs142038240
|
0.00088
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu)
|
rs142723093
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000426.4(LAMA2):c.6708-3A>C
|
rs112637707
|
0.00087
|
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr)
|
rs201224113
|
0.00087
|
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)
|
rs41287114
|
0.00087
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)
|
rs146462599
|
0.00086
|
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)
|
rs146406037
|
0.00086
|
NM_001369268.1(ACAN):c.5147G>T (p.Ser1716Ile)
|
rs79925540
|
0.00086
|
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
|
rs35288908
|
0.00086
|
NM_002016.2(FLG):c.3338G>A (p.Arg1113His)
|
rs140923774
|
0.00086
|
NM_002016.2(FLG):c.6604G>A (p.Gly2202Ser)
|
rs146891517
|
0.00086
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
NM_002016.2(FLG):c.5355C>G (p.Ser1785Arg)
|
rs72477394
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr)
|
rs140315493
|
0.00085
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00083
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser)
|
rs150806357
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)
|
rs146970674
|
0.00083
|
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys)
|
rs113329438
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
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_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys)
|
rs201483867
|
0.00081
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)
|
rs71653633
|
0.00080
|
NM_002181.4(IHH):c.857C>T (p.Pro286Leu)
|
rs140093604
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00079
|
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=)
|
rs146425236
|
0.00079
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
NM_006005.3(WFS1):c.1143G>A (p.Leu381=)
|
rs151153967
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu)
|
rs117707719
|
0.00078
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)
|
rs530387460
|
0.00077
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
0.00076
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
NM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile)
|
rs144251950
|
0.00076
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)
|
rs41304731
|
0.00074
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00074
|
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro)
|
rs139172299
|
0.00074
|
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg)
|
rs201992066
|
0.00073
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00073
|
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala)
|
rs527691624
|
0.00073
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu)
|
rs143697110
|
0.00072
|
NM_001163321.4(CCDC120):c.1387C>A (p.Pro463Thr)
|
rs201466297
|
0.00072
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00071
|
NM_001369268.1(ACAN):c.582C>T (p.Asp194=)
|
rs375544241
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)
|
rs141391984
|
0.00070
|
NM_000444.6(PHEX):c.849+3A>G
|
rs200585038
|
0.00070
|
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)
|
rs149843493
|
0.00070
|
NC_000001.11:g.230710009T>C
|
rs56073403
|
0.00069
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_145052.4(UPRT):c.215C>T (p.Ser72Phe)
|
rs144630001
|
0.00069
|
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=)
|
rs200273549
|
0.00069
|
NM_000047.3(ARSL):c.23+5G>C
|
rs200062390
|
0.00068
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)
|
rs138393827
|
0.00068
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)
|
rs143346057
|
0.00067
|
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile)
|
rs200530606
|
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_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)
|
rs530486445
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001458.5(FLNC):c.4456+13C>T
|
rs200456962
|
0.00065
|
NM_001625.4(AK2):c.614G>A (p.Gly205Glu)
|
rs202182972
|
0.00065
|
NM_006031.6(PCNT):c.623G>A (p.Arg208His)
|
rs142318247
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=)
|
rs145242127
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val)
|
rs148070768
|
0.00063
|
NM_001379500.1(COL18A1):c.107-12197G>A
|
rs200284308
|
0.00063
|
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val)
|
rs201573707
|
0.00063
|
NM_004172.5(SLC1A3):c.320-7C>T
|
rs200867287
|
0.00063
|
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp)
|
rs144783536
|
0.00063
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_152274.5(CCNQ):c.627C>T (p.Ala209=)
|
rs139186601
|
0.00062
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
0.00062
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=)
|
rs142606648
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)
|
rs146124454
|
0.00061
|
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile)
|
rs143491198
|
0.00061
|
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)
|
rs149300669
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_001381902.1(SAGE1):c.1942G>C (p.Ala648Pro)
|
rs147443347
|
0.00060
|
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp)
|
rs199910189
|
0.00060
|
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp)
|
rs575313866
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_053274.3(GLMN):c.144T>G (p.Ile48Met)
|
rs142032681
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro)
|
rs142985138
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser)
|
rs150196623
|
0.00059
|
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu)
|
rs146459055
|
0.00059
|
NM_005559.4(LAMA1):c.3145G>A (p.Val1049Met)
|
rs138476816
|
0.00059
|
NM_005708.5(GPC6):c.710A>G (p.Lys237Arg)
|
rs201337600
|
0.00059
|
NM_000208.4(INSR):c.2295C>T (p.Gly765=)
|
rs142654992
|
0.00058
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
NM_001142864.4(PIEZO1):c.4955+8C>T
|
rs533263001
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr)
|
rs200412974
|
0.00058
|
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
|
rs147702169
|
0.00058
|
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)
|
rs182330532
|
0.00058
|
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)
|
rs191999971
|
0.00058
|
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=)
|
rs370408732
|
0.00057
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_000875.5(IGF1R):c.1194C>T (p.Ser398=)
|
rs35315829
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_177433.3(MAGED2):c.1729G>A (p.Ala577Thr)
|
rs376899197
|
0.00057
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_000426.4(LAMA2):c.7300+10T>A
|
rs200469923
|
0.00056
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
NM_002386.4(MC1R):c.284C>T (p.Thr95Met)
|
rs34158934
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)
|
rs140272085
|
0.00055
|
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu)
|
rs147286623
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val)
|
rs140074626
|
0.00054
|
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
|
rs150615481
|
0.00054
|
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys)
|
rs146151670
|
0.00054
|
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)
|
rs147011199
|
0.00054
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000137.4(FAH):c.181G>T (p.Val61Phe)
|
rs151264725
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001374353.1(GLI2):c.148+5T>C
|
rs201273354
|
0.00053
|
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)
|
rs149091975
|
0.00053
|
NM_001381902.1(SAGE1):c.607A>G (p.Thr203Ala)
|
rs145404090
|
0.00053
|
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser)
|
rs143613788
|
0.00053
|
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys)
|
rs200930841
|
0.00053
|
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln)
|
rs151257275
|
0.00053
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln)
|
rs115308424
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His)
|
rs141153248
|
0.00051
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)
|
rs373218212
|
0.00051
|
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)
|
rs149108037
|
0.00051
|
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)
|
rs375100066
|
0.00051
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_001324144.2(ZNF41):c.2114G>A (p.Arg705His)
|
rs144904486
|
0.00050
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00050
|
NM_020884.7(MYH7B):c.5372A>C (p.Lys1791Thr)
|
rs191392262
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr)
|
rs199717686
|
0.00049
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
NM_153834.4(ADGRG4):c.1963A>G (p.Ile655Val)
|
rs41299092
|
0.00049
|
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)
|
rs147977741
|
0.00049
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000142.5(FGFR3):c.1959+8C>T
|
rs371666188
|
0.00048
|
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=)
|
rs116239440
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)
|
rs147588579
|
0.00048
|
NM_002016.2(FLG):c.5840G>A (p.Trp1947Ter)
|
rs560912365
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly)
|
rs550322372
|
0.00047
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_002615.7(SERPINF1):c.151G>A (p.Val51Met)
|
rs150899084
|
0.00047
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys)
|
rs186701249
|
0.00047
|
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe)
|
rs201084909
|
0.00047
|
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe)
|
rs201799139
|
0.00046
|
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_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=)
|
rs140063541
|
0.00046
|
NM_001039591.3(USP9X):c.6209+6T>G
|
rs200697679
|
0.00046
|
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158
|
0.00046
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser)
|
rs199802935
|
0.00046
|
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)
|
rs143743958
|
0.00046
|
NM_018474.6(KIZ):c.1660G>T (p.Ala554Ser)
|
rs532984240
|
0.00046
|
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)
|
rs181731943
|
0.00046
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met)
|
rs368145743
|
0.00044
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)
|
rs142595337
|
0.00043
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
|
rs140382957
|
0.00043
|
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys)
|
rs144896730
|
0.00043
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001399.5(EDA):c.1001G>A (p.Arg334His)
|
rs142948132
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val)
|
rs139976441
|
0.00041
|
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile)
|
rs138191075
|
0.00041
|
NM_006005.3(WFS1):c.2202C>T (p.Leu734=)
|
rs140427062
|
0.00041
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu)
|
rs112709561
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_006005.3(WFS1):c.402G>A (p.Ala134=)
|
rs199533137
|
0.00040
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
NM_000142.5(FGFR3):c.252G>A (p.Ser84=)
|
rs367973461
|
0.00039
|
NM_006521.6(TFE3):c.26G>C (p.Arg9Pro)
|
rs782109836
|
0.00039
|
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del)
|
rs565950672
|
0.00039
|
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His)
|
rs200141555
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_033064.5(ATCAY):c.866+7C>T
|
rs140799527
|
0.00039
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00039
|
NM_000238.4(KCNH2):c.1128+1865C>T
|
rs200324802
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
NM_001386125.1(OBSCN):c.20378T>C (p.Val6793Ala)
|
rs200917956
|
0.00038
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=)
|
rs559862641
|
0.00036
|
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)
|
rs78895258
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)
|
rs764928653
|
0.00036
|
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del)
|
rs759270179
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)
|
rs575642464
|
0.00035
|
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)
|
rs373713957
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00035
|
NM_173495.3(PTCHD1):c.1012+5T>C
|
rs201933353
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001458.5(FLNC):c.7991-19C>T
|
rs537052947
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)
|
rs375313914
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
NM_201384.3(PLEC):c.47G>A (p.Arg16Gln)
|
rs202012068
|
0.00034
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val)
|
rs140234740
|
0.00033
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys)
|
rs139612152
|
0.00032
|
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val)
|
rs191098985
|
0.00032
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu)
|
rs113890513
|
0.00032
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
NM_000540.3(RYR1):c.8616+7G>A
|
rs200023171
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001288705.3(CSF1R):c.1510+16C>T
|
rs200626267
|
0.00031
|
NM_001457.4(FLNB):c.4903G>A (p.Gly1635Ser)
|
rs139046903
|
0.00031
|
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)
|
rs560217758
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)
|
rs201025468
|
0.00031
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met)
|
rs200578021
|
0.00030
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp)
|
rs193024188
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg)
|
rs142651446
|
0.00028
|
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)
|
rs151094883
|
0.00028
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
NM_001001344.3(ATP2B3):c.1763G>A (p.Arg588His)
|
rs201731964
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_015450.3(POT1):c.340A>G (p.Ile114Val)
|
rs146552802
|
0.00027
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn)
|
rs148682566
|
0.00027
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)
|
rs564570407
|
0.00026
|
NM_001142864.4(PIEZO1):c.954C>T (p.Val318=)
|
rs543604569
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001365951.3(KIF1B):c.2115+6835C>T
|
rs140733878
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001385449.1(RTL9):c.2153T>C (p.Met718Thr)
|
rs151173460
|
0.00026
|
NM_002025.4(AFF2):c.493A>G (p.Asn165Asp)
|
rs142559324
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000232.5(SGCB):c.495C>T (p.Asp165=)
|
rs142801720
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_001143981.2(CHRDL1):c.587G>A (p.Arg196Gln)
|
rs189640632
|
0.00025
|
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr)
|
rs200306870
|
0.00025
|
NM_004006.3(DMD):c.9225-5795G>A
|
rs138287985
|
0.00025
|
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys)
|
rs201977551
|
0.00025
|
NM_014008.5(CCDC22):c.659G>A (p.Arg220Gln)
|
rs201088755
|
0.00025
|
NM_015158.5(KANK1):c.3554-5T>A
|
rs76738278
|
0.00025
|
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630
|
0.00025
|
NM_138295.5(PKD1L1):c.7541G>A (p.Arg2514His)
|
rs199514547
|
0.00025
|
NM_144658.4(DOCK11):c.5185C>T (p.Arg1729Cys)
|
rs149805252
|
0.00025
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val)
|
rs149900041
|
0.00024
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.35875+8T>G
|
rs192408585
|
0.00024
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_001369268.1(ACAN):c.204A>C (p.Pro68=)
|
rs372041880
|
0.00024
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_007315.4(STAT1):c.1248C>G (p.Gly416=)
|
rs140787216
|
0.00024
|
NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser)
|
rs144538200
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_057175.5(NAA15):c.2350A>G (p.Ile784Val)
|
rs201001193
|
0.00024
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)
|
rs141956294
|
0.00023
|
NM_001078173.2(RTL8B):c.38C>T (p.Ala13Val)
|
rs201712221
|
0.00023
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_001458.5(FLNC):c.1434C>T (p.Arg478=)
|
rs201810745
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)
|
rs143517122
|
0.00022
|
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg)
|
rs1800466
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_001110556.2(FLNA):c.1229-8C>T
|
rs376190976
|
0.00022
|
NM_014630.3(ZNF592):c.169T>G (p.Ser57Ala)
|
rs145206161
|
0.00022
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg)
|
rs565065320
|
0.00022
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000142.5(FGFR3):c.807C>T (p.Ser269=)
|
rs199614237
|
0.00021
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
NR_028089.1(NXF5):n.775A>G
|
rs141000813
|
0.00021
|
NM_000051.4(ATM):c.3402+17T>C
|
rs3092825
|
0.00020
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000059.4(BRCA2):c.198A>G (p.Gln66=)
|
rs28897700
|
0.00020
|
NM_000142.5(FGFR3):c.490C>G (p.Leu164Val)
|
rs577990843
|
0.00020
|
NM_001278064.2(GRM1):c.2725A>C (p.Met909Leu)
|
rs138759146
|
0.00020
|
NM_033337.3(CAV3):c.115-13G>C
|
rs368367319
|
0.00020
|
NM_152424.4(AMER1):c.790G>A (p.Ala264Thr)
|
rs150929706
|
0.00020
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
NM_203290.4(POLR1C):c.490G>A (p.Val164Met)
|
rs200525225
|
0.00020
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=)
|
rs181183366
|
0.00019
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
NM_001354768.3(NRL):c.654del (p.Cys219fs)
|
rs761024023
|
0.00019
|
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn)
|
rs200154055
|
0.00019
|
NM_004595.5(SMS):c.171C>T (p.Ser57=)
|
rs201558273
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)
|
rs200340910
|
0.00019
|
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)
|
rs144882998
|
0.00019
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
NM_133379.5(TTN):c.13614A>C (p.Gln4538His)
|
rs139344272
|
0.00019
|
NM_181303.2(NLGN3):c.20C>T (p.Pro7Leu)
|
rs199925687
|
0.00019
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_001002916.5(H2BW1):c.112C>T (p.Arg38Cys)
|
rs200384987
|
0.00018
|
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)
|
rs201409107
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_004044.7(ATIC):c.955G>A (p.Val319Ile)
|
rs147114143
|
0.00018
|
NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg)
|
rs180806437
|
0.00018
|
NM_015419.4(MXRA5):c.4067G>A (p.Arg1356His)
|
rs151141545
|
0.00018
|
NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala)
|
rs776846313
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000095.3(COMP):c.468G>T (p.Pro156=)
|
rs202241721
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)
|
rs200344386
|
0.00017
|
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
0.00017
|
NM_004407.4(DMP1):c.1396A>G (p.Ser466Gly)
|
rs770626072
|
0.00017
|
NM_004525.3(LRP2):c.2210C>T (p.Ser737Leu)
|
rs201860953
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000209.4(PDX1):c.732C>G (p.Pro244=)
|
rs777512281
|
0.00016
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)
|
rs140517911
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=)
|
rs370332353
|
0.00016
|
NM_004525.3(LRP2):c.5155G>C (p.Gly1719Arg)
|
rs144054579
|
0.00016
|
NM_006005.3(WFS1):c.825G>A (p.Ala275=)
|
rs566634291
|
0.00016
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
NM_001142864.4(PIEZO1):c.5464G>A (p.Glu1822Lys)
|
rs762151744
|
0.00015
|
NM_001190417.2(ZNF674):c.1069C>A (p.His357Asn)
|
rs180754888
|
0.00015
|
NM_001384125.1(BLTP1):c.5372G>A (p.Arg1791Lys)
|
rs200778020
|
0.00015
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)
|
rs201415443
|
0.00015
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)
|
rs199535268
|
0.00015
|
NM_012208.4(HARS2):c.1254G>C (p.Gln418His)
|
rs138090816
|
0.00015
|
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg)
|
rs142876168
|
0.00015
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
NM_000095.3(COMP):c.951C>A (p.Asp317Glu)
|
rs200547692
|
0.00014
|
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)
|
rs201595274
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)
|
rs376823283
|
0.00014
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
NM_001807.6(CEL):c.2026G>T (p.Ala676Ser)
|
rs529652004
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=)
|
rs369221405
|
0.00014
|
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys)
|
rs373448635
|
0.00014
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_015570.4(AUTS2):c.2251A>C (p.Thr751Pro)
|
rs372998593
|
0.00014
|
NM_080425.4(GNAS):c.1524C>T (p.Ala508=)
|
rs111796234
|
0.00014
|
NM_152424.4(AMER1):c.1802G>A (p.Arg601Gln)
|
rs149865410
|
0.00014
|
NM_194277.3(FRMD7):c.1531A>G (p.Ile511Val)
|
rs199717232
|
0.00014
|
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)
|
rs200589588
|
0.00014
|
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000875.5(IGF1R):c.84G>A (p.Thr28=)
|
rs372748482
|
0.00013
|
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)
|
rs373256534
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001267550.2(TTN):c.71883T>C (p.Val23961=)
|
rs368692510
|
0.00013
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)
|
rs536108231
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_004525.3(LRP2):c.12296-7T>A
|
rs200755164
|
0.00013
|
NM_006649.4(UTP14A):c.1186C>A (p.Leu396Met)
|
rs201204218
|
0.00013
|
NM_031892.3(SH3KBP1):c.1876A>T (p.Met626Leu)
|
rs199561036
|
0.00013
|
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn)
|
rs202093384
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_001104544.3(TMEM255A):c.433C>T (p.Pro145Ser)
|
rs782081123
|
0.00012
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His)
|
rs200192119
|
0.00012
|
NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala)
|
rs572536541
|
0.00012
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
NM_001039705.3(TRO):c.3139G>A (p.Val1047Ile)
|
rs201473056
|
0.00011
|
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His)
|
rs201606038
|
0.00011
|
NM_001130438.3(SPTAN1):c.5044-4C>T
|
rs749484552
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val)
|
rs552332994
|
0.00011
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)
|
rs748755187
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_018136.5(ASPM):c.9085-3T>C
|
rs201188381
|
0.00011
|
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala)
|
rs199925549
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_001029896.2(WDR45):c.100G>A (p.Val34Met)
|
rs151051355
|
0.00010
|
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)
|
rs373709706
|
0.00010
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001353108.3(CEP63):c.990del (p.Asp330fs)
|
rs774485513
|
0.00010
|
NM_001415.4(EIF2S3):c.912T>C (p.Asp304=)
|
rs144487129
|
0.00010
|
NM_001458.5(FLNC):c.5445C>T (p.Thr1815=)
|
rs758995789
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_005646.4(TARBP1):c.930C>A (p.Asn310Lys)
|
rs139752194
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_080680.3(COL11A2):c.798+38C>A
|
rs200989046
|
0.00010
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.516+18T>C
|
rs81002834
|
0.00009
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)
|
rs150596964
|
0.00009
|
NM_000546.6(TP53):c.6G>A (p.Glu2=)
|
rs143458271
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu)
|
rs777547090
|
0.00009
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)
|
rs753966916
|
0.00009
|
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val)
|
rs750806089
|
0.00009
|
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)
|
rs759474127
|
0.00009
|
NM_001288705.3(CSF1R):c.2554+3G>A
|
rs377388187
|
0.00009
|
NM_001347217.2(WDR13):c.892G>T (p.Gly298Trp)
|
rs201415075
|
0.00009
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
NM_001378477.3(NYX):c.796C>T (p.Arg266Cys)
|
rs369077278
|
0.00009
|
NM_001551.3(IGBP1):c.536T>C (p.Val179Ala)
|
rs368773089
|
0.00009
|
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)
|
rs369671890
|
0.00009
|
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp)
|
rs138968466
|
0.00009
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
|
rs753953205
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_018965.4(TREM2):c.*30G>A
|
rs75272959
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_130839.5(UBE3A):c.986A>G (p.Asn329Ser)
|
rs556829175
|
0.00009
|
NM_173798.4(ZCCHC12):c.100G>A (p.Gly34Ser)
|
rs190906444
|
0.00009
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000195.5(HPS1):c.778C>T (p.Arg260Trp)
|
rs564590745
|
0.00008
|
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly)
|
rs1057520588
|
0.00008
|
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)
|
rs377458008
|
0.00008
|
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu)
|
rs148831705
|
0.00008
|
NM_001163278.2(TENM1):c.1187C>T (p.Ala396Val)
|
rs146613496
|
0.00008
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser)
|
rs527248119
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_006005.3(WFS1):c.1148G>A (p.Arg383His)
|
rs369450642
|
0.00008
|
NM_012079.6(DGAT1):c.713C>T (p.Pro238Leu)
|
rs373467033
|
0.00008
|
NM_016249.4(MAGEC2):c.19G>A (p.Val7Ile)
|
rs749047320
|
0.00008
|
NM_022455.5(NSD1):c.6259-8A>T
|
rs370529039
|
0.00008
|
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr)
|
rs199565938
|
0.00008
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
NM_194277.3(FRMD7):c.892A>G (p.Ser298Gly)
|
rs368404774
|
0.00008
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001039840.4(CHIC1):c.337G>A (p.Val113Ile)
|
rs373733681
|
0.00007
|
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=)
|
rs143140947
|
0.00007
|
NM_001267550.2(TTN):c.32070C>T (p.Val10690=)
|
rs757316831
|
0.00007
|
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val)
|
rs776911847
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly)
|
rs375401655
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_006005.3(WFS1):c.726C>T (p.Ile242=)
|
rs71524381
|
0.00007
|
NM_015338.6(ASXL1):c.1907C>T (p.Ala636Val)
|
rs370230857
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)
|
rs147840022
|
0.00007
|
NM_133379.5(TTN):c.16075A>G (p.Met5359Val)
|
rs372044281
|
0.00007
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
NM_000051.4(ATM):c.1887C>T (p.Ser629=)
|
rs143097772
|
0.00006
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000444.6(PHEX):c.118+7G>T
|
rs534550003
|
0.00006
|
NM_001004486.1(OR13H1):c.191G>A (p.Ser64Asn)
|
rs376878717
|
0.00006
|
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter)
|
rs201203612
|
0.00006
|
NM_001130144.3(LTBP3):c.1645C>G (p.Pro549Ala)
|
rs145060640
|
0.00006
|
NM_001143981.2(CHRDL1):c.1345T>C (p.Tyr449His)
|
rs200366092
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.20837-12G>A
|
rs534822724
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=)
|
rs368268066
|
0.00006
|
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)
|
rs182422055
|
0.00006
|
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)
|
rs199636364
|
0.00006
|
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln)
|
rs201640075
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_002181.4(IHH):c.836C>T (p.Thr279Met)
|
rs776499803
|
0.00006
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr)
|
rs370487132
|
0.00006
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser)
|
rs143286302
|
0.00006
|
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)
|
rs141919506
|
0.00006
|
NM_020812.4(DOCK6):c.4253A>G (p.Lys1418Arg)
|
rs530689577
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu)
|
rs140366563
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
|
rs376280495
|
0.00005
|
NM_000455.5(STK11):c.465-18G>T
|
rs587781177
|
0.00005
|
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)
|
rs587778087
|
0.00005
|
NM_001080512.3(BICC1):c.637A>G (p.Ile213Val)
|
rs550455235
|
0.00005
|
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)
|
rs200082602
|
0.00005
|
NM_001244008.2(KIF1A):c.1949+7C>T
|
rs555750413
|
0.00005
|
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn)
|
rs543338451
|
0.00005
|
NM_001267550.2(TTN):c.45994C>T (p.Leu15332=)
|
rs765663809
|
0.00005
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)
|
rs56373393
|
0.00005
|
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)
|
rs201226974
|
0.00005
|
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)
|
rs756584594
|
0.00005
|
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly)
|
rs776808559
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His)
|
rs757247893
|
0.00005
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_133379.5(TTN):c.14015C>T (p.Ala4672Val)
|
rs551658963
|
0.00005
|
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)
|
rs781900720
|
0.00004
|
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)
|
rs531178000
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)
|
rs188723332
|
0.00004
|
NM_000179.3(MSH6):c.4001+15A>G
|
rs202176821
|
0.00004
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
NM_000257.4(MYH7):c.3270C>T (p.Leu1090=)
|
rs760840698
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000428.3(LTBP2):c.3883A>G (p.Met1295Val)
|
rs776746432
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000744.7(CHRNA4):c.383+7C>T
|
rs200690355
|
0.00004
|
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)
|
rs369742878
|
0.00004
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)
|
rs776790387
|
0.00004
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
NM_001267550.2(TTN):c.32482C>T (p.Pro10828Ser)
|
rs746685110
|
0.00004
|
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)
|
rs746063269
|
0.00004
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)
|
rs776018262
|
0.00004
|
NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly)
|
rs760597864
|
0.00004
|
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala)
|
rs370118778
|
0.00004
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_007294.4(BRCA1):c.75C>T (p.Pro25=)
|
rs80356839
|
0.00004
|
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)
|
rs773433679
|
0.00004
|
NM_015662.3(IFT172):c.2443-3C>T
|
rs774328767
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln)
|
rs369775705
|
0.00004
|
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)
|
rs121917883
|
0.00004
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=)
|
rs556762256
|
0.00003
|
NM_000062.3(SERPING1):c.279dup (p.Pro94fs)
|
rs1945330983
|
0.00003
|
NM_000179.3(MSH6):c.1053C>T (p.His351=)
|
rs28903083
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)
|
rs202136743
|
0.00003
|
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln)
|
rs781923569
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)
|
rs375032616
|
0.00003
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)
|
rs200319078
|
0.00003
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_001844.5(COL2A1):c.2302-3C>T
|
rs895256869
|
0.00003
|
NM_001846.4(COL4A2):c.550-13T>C
|
rs572328853
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly)
|
rs201752182
|
0.00003
|
NM_019066.5(MAGEL2):c.1894G>A (p.Ala632Thr)
|
rs777626175
|
0.00003
|
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
|
rs376048533
|
0.00003
|
NM_025114.4(CEP290):c.4438-7A>G
|
rs764079476
|
0.00003
|
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln)
|
rs142272515
|
0.00003
|
NM_153448.4(ESX1):c.1205C>T (p.Ala402Val)
|
rs782512903
|
0.00003
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
NM_000051.4(ATM):c.8671+18T>C
|
rs763189977
|
0.00002
|
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=)
|
rs768907899
|
0.00002
|
NM_000059.4(BRCA2):c.8331+16C>G
|
rs730881595
|
0.00002
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu)
|
rs1442777428
|
0.00002
|
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser)
|
rs1013412353
|
0.00002
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His)
|
rs782670360
|
0.00002
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
NM_001267550.2(TTN):c.95877G>A (p.Val31959=)
|
rs373041862
|
0.00002
|
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile)
|
rs1014543362
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=)
|
rs546574834
|
0.00002
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002666.5(PLIN1):c.1204G>A (p.Val402Met)
|
rs189637126
|
0.00002
|
NM_005559.4(LAMA1):c.8314C>T (p.Arg2772Cys)
|
rs760542877
|
0.00002
|
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser)
|
rs765070830
|
0.00002
|
NM_006031.6(PCNT):c.4108C>T (p.Arg1370Trp)
|
rs751846963
|
0.00002
|
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=)
|
rs754152768
|
0.00002
|
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly)
|
rs377066147
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_018965.4(TREM2):c.677-6T>C
|
rs199910080
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr)
|
rs752659701
|
0.00002
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
rs80358715
|
0.00001
|
NM_000059.4(BRCA2):c.68-17A>G
|
rs1060504621
|
0.00001
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter)
|
rs1303215579
|
0.00001
|
NM_000081.4(LYST):c.6216A>G (p.Val2072=)
|
rs371248013
|
0.00001
|
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile)
|
rs529408918
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)
|
rs587779282
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.797-17T>C
|
rs532401716
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)
|
rs571718677
|
0.00001
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000533.5(PLP1):c.696+8G>T
|
rs902326390
|
0.00001
|
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)
|
rs193922799
|
0.00001
|
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=)
|
rs577199866
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp)
|
rs563050274
|
0.00001
|
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)
|
rs773561397
|
0.00001
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)
|
rs539735520
|
0.00001
|
NM_001267550.2(TTN):c.39919G>T (p.Val13307Phe)
|
rs553280930
|
0.00001
|
NM_001267550.2(TTN):c.55432+19G>A
|
rs1213547538
|
0.00001
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
NM_001267550.2(TTN):c.70656A>G (p.Ala23552=)
|
rs372399881
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)
|
rs557737090
|
0.00001
|
NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly)
|
rs1465872803
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His)
|
rs370102608
|
0.00001
|
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu)
|
rs540935486
|
0.00001
|
NM_001457.4(FLNB):c.5816C>T (p.Thr1939Met)
|
rs372372509
|
0.00001
|
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)
|
rs376023896
|
0.00001
|
NM_001458.5(FLNC):c.8136C>T (p.Asp2712=)
|
rs748104907
|
0.00001
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu)
|
rs904660062
|
0.00001
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_006767.4(LZTR1):c.671dup (p.Ser227fs)
|
rs1351226319
|
0.00001
|
NM_006950.3(SYN1):c.364C>T (p.Pro122Ser)
|
rs774818779
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_014305.4(TGDS):c.700T>C (p.Tyr234His)
|
rs544436734
|
0.00001
|
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)
|
rs1432688490
|
0.00001
|
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser)
|
rs1021631118
|
0.00001
|
NM_020921.4(NIN):c.5584A>G (p.Met1862Val)
|
rs576676777
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024408.4(NOTCH2):c.2026+6G>T
|
rs587731563
|
0.00001
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)
|
rs539769126
|
0.00001
|
NM_030653.4(DDX11):c.1657C>G (p.Gln553Glu)
|
rs535328861
|
0.00001
|
NM_031407.7(HUWE1):c.754G>A (p.Asp252Asn)
|
rs782531338
|
0.00001
|
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser)
|
rs748867663
|
0.00001
|
NM_138780.3(SYTL5):c.226G>A (p.Asp76Asn)
|
rs746187137
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)
|
rs570556738
|
0.00001
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu)
|
rs565633539
|
0.00001
|
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg)
|
rs754497228
|
0.00001
|
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
|
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)
|
rs201114595
|
|
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)
|
rs137854574
|
|
NM_000038.6(APC):c.423-17dup
|
rs35031194
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup)
|
rs3032358
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
NM_000051.4(ATM):c.6347+31dup
|
rs58978479
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs)
|
rs1064792995
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.644A>G (p.Glu215Gly)
|
rs1198988757
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
NM_000081.4(LYST):c.5461-13_5461-12dup
|
rs557545474
|
|
NM_000081.4(LYST):c.5461-3dup
|
rs557545474
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
NM_000127.3(EXT1):c.962+8_962+11del
|
rs138812713
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000141.5(FGFR2):c.1084+8C>T
|
rs1589827584
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[26]
|
rs144131869
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000170.3(GLDC):c.27del (p.Leu10fs)
|
rs1414541286
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000181.4(GUSB):c.1790-18dup
|
rs750022485
|
|
NM_000181.4(GUSB):c.1790-5del
|
rs750022485
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000208.4(INSR):c.653-23TC[11]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[12]
|
rs3835070
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
NM_000224.3(KRT18):c.268C>T (p.Arg90Cys)
|
rs1397020078
|
|
NM_000224.3(KRT18):c.274G>C (p.Ala92Pro)
|
rs1434610693
|
|
NM_000224.3(KRT18):c.300C>G (p.Ser100Arg)
|
rs796361379
|
|
NM_000231.3(SGCG):c.196-6dup
|
rs568365779
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA
|
rs535965616
|
|
NM_000251.3(MSH2):c.942+17_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+24_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000257.4(MYH7):c.1050T>C (p.Tyr350=)
|
rs2138677470
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup)
|
rs111033388
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
NM_000314.8(PTEN):c.79+7A>T
|
rs374331677
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)
|
rs2132044384
|
|
NM_000334.4(SCN4A):c.483-5C>A
|
rs191547933
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000346.4(SOX9):c.710dup (p.Pro238fs)
|
rs1567911132
|
|
NM_000346.4(SOX9):c.715A>C (p.Thr239Pro)
|
rs1275128261
|
|
NM_000346.4(SOX9):c.718A>C (p.Thr240Pro)
|
rs1224146749
|
|
NM_000377.3(WAS):c.273+11dup
|
rs58371799
|
|
NM_000381.4(MID1):c.661-7del
|
rs375668839
|
|
NM_000381.4(MID1):c.661-7dup
|
rs375668839
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000391.4(TPP1):c.887-8_887-6del
|
rs35039601
|
|
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln)
|
rs759412116
|
|
NM_000426.4(LAMA2):c.9212-15C>A
|
rs55776770
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
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.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000553.6(WRN):c.2338G>A (p.Val780Ile)
|
rs574787451
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG
|
rs758718643
|
|
NM_000797.4(DRD4):c.235_247del (p.Ala79fs)
|
rs587776842
|
|
NM_000797.4(DRD4):c.802G>T (p.Gly268Cys)
|
rs557382507
|
|
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)
|
rs1057518988
|
|
NM_000875.5(IGF1R):c.237G>A (p.Thr79=)
|
rs34868731
|
|
NM_001001888.4(VCX3B):c.7C>T (p.Pro3Ser)
|
rs775484942
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)
|
rs551162125
|
|
NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr)
|
rs139993510
|
|
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)
|
rs757055929
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001012759.3(CTU2):c.1097+14_1097+23del
|
rs1555551063
|
|
NM_001015880.2(PAPSS2):c.381+21_381+24del
|
rs367885911
|
|
NM_001015880.2(PAPSS2):c.381+21_381+24dup
|
rs367885911
|
|
NM_001015880.2(PAPSS2):c.381+22_381+24dup
|
rs367885911
|
|
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln)
|
rs77955907
|
|
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=)
|
rs764447374
|
|
NM_001018115.3(FANCD2):c.1278+3_1278+5del
|
rs375350046
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001018115.3(FANCD2):c.3466+36dup
|
rs371321981
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042492.3(NF1):c.730+32del
|
rs71142032
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
NM_001079872.2(CUL4B):c.131GCAGCAGTA[1] (p.Ser47_Ser49del)
|
rs777238263
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)
|
rs2125194268
|
|
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)
|
rs2045524028
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
NM_001101426.4(CRPPA):c.685-25GTT[6]
|
rs142647500
|
|
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)
|
rs782721874
|
|
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2])
|
rs565544512
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8])
|
rs759134767
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)
|
rs797044811
|
|
NM_001128164.2(ATXN1):c.636GCA[12] (p.Gln224_Gln225del)
|
rs751421308
|
|
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup)
|
rs751421308
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001128633.2(RIMBP3C):c.3196_3201dup (p.Gln1066_Val1067dup)
|
rs1325004984
|
|
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)
|
rs71036212
|
|
NM_001130823.3(DNMT1):c.1044-8del
|
rs59599980
|
|
NM_001130823.3(DNMT1):c.1044-9_1044-8del
|
rs59599980
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)
|
rs61742872
|
|
NM_001130987.2(DYSF):c.5546+20G>A
|
rs747092306
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)
|
rs763940836
|
|
NM_001145358.2(SIN3A):c.3303C>G (p.Tyr1101Ter)
|
rs778623853
|
|
NM_001145809.2(MYH14):c.5083G>C (p.Gly1695Arg)
|
rs199915414
|
|
NM_001159699.2(FHL1):c.737-9dup
|
rs374867802
|
|
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup)
|
rs55671452
|
|
NM_001164508.2(NEB):c.11077-20dup
|
rs749915004
|
|
NM_001164508.2(NEB):c.11077-5del
|
rs749915004
|
|
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=)
|
rs2288217
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001164508.2(NEB):c.20467-4del
|
rs10687343
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
NM_001166108.2(PALLD):c.1965-12758G>C
|
rs777359545
|
|
NM_001166108.2(PALLD):c.1965-12764G>C
|
rs863224384
|
|
NM_001166355.2(LFNG):c.163_166del (p.Asp55fs)
|
rs34637446
|
|
NM_001166355.2(LFNG):c.163_166dup (p.Glu56delinsGlyTer)
|
rs34637446
|
|
NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro)
|
rs745917082
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
NM_001189.4(NKX3-2):c.190G>C (p.Gly64Arg)
|
rs202195290
|
|
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)
|
rs746953076
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001232.4(CASQ2):c.738-6_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-7_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-8_738-5del
|
rs56889721
|
|
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu)
|
rs61731667
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001256860.1(USP17L19):c.67T>C (p.Ser23Pro)
|
rs763198779
|
|
NM_001267536.3(GOLGA6L4):c.1236T>C (p.Asp412=)
|
rs62028127
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100766-10dup
|
rs749872538
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.11311+1080del
|
rs58651353
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser)
|
rs150223722
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.40222+2TA[10]
|
rs10580462
|
|
NM_001267550.2(TTN):c.40222+2TA[12]
|
rs10580462
|
|
NM_001267550.2(TTN):c.40222+2TA[13]
|
rs10580462
|
|
NM_001267550.2(TTN):c.40222+2TA[9]
|
rs10580462
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile)
|
rs562856820
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
NM_001267550.2(TTN):c.9472-19del
|
rs201990196
|
|
NM_001278064.2(GRM1):c.950+8TC[14]
|
rs72225459
|
|
NM_001278064.2(GRM1):c.950+8TC[17]
|
rs72225459
|
|
NM_001278064.2(GRM1):c.950+8TC[18]
|
rs72225459
|
|
NM_001278064.2(GRM1):c.950+8TC[20]
|
rs72225459
|
|
NM_001286577.2(C2CD3):c.5496-6del
|
rs747090151
|
|
NM_001288705.3(CSF1R):c.2132+5C>T
|
rs17110908
|
|
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr)
|
rs191329848
|
|
NM_001291415.2(KDM6A):c.2859-5del
|
rs10605935
|
|
NM_001308093.3(GATA4):c.543C>T (p.Ala181=)
|
rs544097659
|
|
NM_001308093.3(GATA4):c.702G>A (p.Thr234=)
|
rs55788387
|
|
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1])
|
rs758276968
|
|
NM_001348716.2(KDM6B):c.1538G>C (p.Arg513Pro)
|
rs749173767
|
|
NM_001348716.2(KDM6B):c.2253CAC[10] (p.Thr762del)
|
rs59627144
|
|
NM_001348716.2(KDM6B):c.2253CAC[8] (p.Thr760_Thr762del)
|
rs59627144
|
|
NM_001348716.2(KDM6B):c.753ACC[11] (p.Pro263_Pro264del)
|
rs61462443
|
|
NM_001348716.2(KDM6B):c.753ACC[12] (p.Pro264del)
|
rs61462443
|
|
NM_001348716.2(KDM6B):c.753ACC[14] (p.Pro264dup)
|
rs61462443
|
|
NM_001348716.2(KDM6B):c.753ACC[16] (p.Pro262_Pro264dup)
|
rs61462443
|
|
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)
|
rs1553663084
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu)
|
rs144285237
|
|
NM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys)
|
rs751795008
|
|
NM_001368894.2(PAX6):c.1308G>A (p.Gln436=)
|
rs758783285
|
|
NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys)
|
rs750848278
|
|
NM_001368894.2(PAX6):c.400-15_400-5del
|
rs758179195
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
NM_001369.3(DNAH5):c.2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001369268.1(ACAN):c.1575C>T (p.Asp525=)
|
rs367724066
|
|
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser)
|
rs144501729
|
|
NM_001369268.1(ACAN):c.5539G>T (p.Glu1847Ter)
|
rs2141610121
|
|
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del)
|
rs574569798
|
|
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly402_Ser403insGlyGly)
|
rs587779747
|
|
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del)
|
rs587779748
|
|
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del)
|
rs747790383
|
|
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411_Ala412insGly)
|
rs747790383
|
|
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)
|
rs797045268
|
|
NM_001375883.1(GPR161):c.-45+395dup
|
rs200664972
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
NM_001379500.1(COL18A1):c.107-12195G>A
|
rs62000960
|
|
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg)
|
rs187721798
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
NM_001379500.1(COL18A1):c.3087+9_3087+10del
|
rs373823632
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
NM_001429.4(EP300):c.1571C>T (p.Thr524Met)
|
rs1452596865
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)
|
rs756196843
|
|
NM_001458.5(FLNC):c.4456+16G>A
|
rs543476754
|
|
NM_001555.5(IGSF1):c.498G>C (p.Glu166Asp)
|
rs201255931
|
|
NM_001807.6(CEL):c.1834G>C (p.Ala612Pro)
|
rs1322454680
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001845.6(COL4A1):c.2096-16del
|
rs112508409
|
|
NM_001845.6(COL4A1):c.2096-27dup
|
rs112508409
|
|
NM_001845.6(COL4A1):c.468+5ATTTT[2]
|
rs3832900
|
|
NM_001845.6(COL4A1):c.808-7C>A
|
rs9588116
|
|
NM_001846.4(COL4A2):c.3563-4G>C
|
rs562701263
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.588+19dup
|
rs111710378
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln)
|
rs372206114
|
|
NM_001852.4(COL9A2):c.1604-26CTCC[7]
|
rs3831927
|
|
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)
|
rs142792529
|
|
NM_001853.4(COL9A3):c.685-4G>T
|
rs57739618
|
|
NM_001854.4(COL11A1):c.652-18_652-16dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
NM_001931.5(DLAT):c.381+22dup
|
rs5794771
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr)
|
rs75235053
|
|
NM_002016.2(FLG):c.1494G>C (p.Glu498Asp)
|
rs13376095
|
|
NM_002016.2(FLG):c.2804G>C (p.Gly935Ala)
|
rs150503113
|
|
NM_002016.2(FLG):c.2884T>C (p.Trp962Arg)
|
rs199888588
|
|
NM_002016.2(FLG):c.2938C>G (p.His980Asp)
|
rs12756586
|
|
NM_002016.2(FLG):c.4240G>A (p.Gly1414Arg)
|
rs145962910
|
|
NM_002016.2(FLG):c.5828T>A (p.Leu1943His)
|
rs113544881
|
|
NM_002016.2(FLG):c.6430C>T (p.Pro2144Ser)
|
rs78771632
|
|
NM_002016.2(FLG):c.8878G>A (p.Gly2960Ser)
|
rs61690342
|
|
NM_002055.5(GFAP):c.462-8dup
|
rs572562362
|
|
NM_002067.5(GNA11):c.889+8G>C
|
rs73527836
|
|
NM_002072.5(GNAQ):c.736-18_736-17dup
|
rs5898555
|
|
NM_002072.5(GNAQ):c.736-18dup
|
rs5898555
|
|
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del)
|
rs1948868228
|
|
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr)
|
rs41270321
|
|
NM_002296.4(LBR):c.893-5del
|
rs78306811
|
|
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del)
|
rs72555376
|
|
NM_002470.4(MYH3):c.1960-17dup
|
rs3216884
|
|
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr)
|
rs34393601
|
|
NM_002471.4(MYH6):c.3979-8C>T
|
rs555976716
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002742.3(PRKD1):c.719T>G (p.Phe240Cys)
|
rs1880565276
|
|
NM_002755.4(MAP2K1):c.694-12TC[4]
|
rs113913469
|
|
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser)
|
rs770782578
|
|
NM_002775.5(HTRA1):c.108G>C (p.Gly36=)
|
rs2293870
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)
|
rs113614842
|
|
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
|
rs1555475415
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del)
|
rs113070757
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3])
|
rs751221446
|
|
NM_003221.4(TFAP2B):c.540+7ACAA[7]
|
rs368226832
|
|
NM_003227.4(TFR2):c.1767+7C>T
|
rs41295912
|
|
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)
|
rs1824676022
|
|
NM_003332.4(TYROBP):c.123C>G (p.Gly41=)
|
rs111477177
|
|
NM_003482.4(KMT2D):c.2798-7del
|
rs112620957
|
|
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)
|
rs950721550
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003737.4(DCHS1):c.76CTG[9] (p.Leu33dup)
|
rs72555381
|
|
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_003859.3(DPM1):c.679-7_679-6insT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-8dup
|
rs11483542
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004006.3(DMD):c.3603+15del
|
rs5902031
|
|
NM_004006.3(DMD):c.3603+3_3603+4dup
|
rs5902031
|
|
NM_004006.3(DMD):c.3603+3dup
|
rs5902031
|
|
NM_004006.3(DMD):c.923C>T (p.Thr308Ile)
|
rs145064612
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004113.6(FGF12):c.229-8del
|
rs34265167
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)
|
rs996949678
|
|
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)
|
rs34642881
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu)
|
rs140505250
|
|
NM_004318.4(ASPH):c.620-5del
|
rs753416869
|
|
NM_004318.4(ASPH):c.758-13dup
|
rs376027589
|
|
NM_004318.4(ASPH):c.791-15dup
|
rs34108497
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4])
|
rs762459325
|
|
NM_004366.6(CLCN2):c.1929CCG[3] (p.Arg646dup)
|
rs545787624
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004370.6(COL12A1):c.1892-19dup
|
rs11347601
|
|
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779
|
|
NM_004393.6(DAG1):c.-116-4dup
|
rs200455639
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_004456.5(EZH2):c.118-4del
|
rs3214332
|
|
NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del)
|
rs71369530
|
|
NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del)
|
rs71369530
|
|
NM_004477.3(FRG1):c.630-4A>G
|
rs78181874
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
NM_004484.4(GPC3):c.338-6_338-5del
|
rs370737647
|
|
NM_004517.4(ILK):c.458A>G (p.Glu153Gly)
|
rs867451051
|
|
NM_004525.3(LRP2):c.8699-8C>T
|
rs145301652
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
NM_004577.4(PSPH):c.194G>A (p.Arg65His)
|
rs200442078
|
|
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro)
|
rs78067484
|
|
NM_004577.4(PSPH):c.275+1del
|
rs139106189
|
|
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)
|
rs11466445
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=)
|
rs143243661
|
|
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup)
|
rs770515802
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del)
|
rs397517043
|
|
NM_005045.4(RELN):c.5211-7del
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-8_5211-7del
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-8_5211-7dup
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-9_5211-7del
|
rs34125550
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)
|
rs373212940
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[21]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[22]
|
rs35896485
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
NM_005465.7(AKT3):c.819+2T>A
|
rs1481058473
|
|
NM_005522.5(HOXA1):c.215_223del (p.His72_His74del)
|
rs544314279
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.3707C>T (p.Ala1236Val)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_005548.3(KARS1):c.223-23dup
|
rs370077957
|
|
NM_005548.3(KARS1):c.223-6del
|
rs370077957
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
NM_005713.3(CERT1):c.*10-8del
|
rs749454395
|
|
NM_005869.4(CWC27):c.750-3T>C
|
rs191441227
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val)
|
rs764932308
|
|
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg)
|
rs28937892
|
|
NM_006005.3(WFS1):c.1797C>A (p.Val599=)
|
rs71524361
|
|
NM_006005.3(WFS1):c.2370G>A (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup)
|
rs397517197
|
|
NM_006005.3(WFS1):c.350C>T (p.Thr117Met)
|
rs141225426
|
|
NM_006005.3(WFS1):c.47C>T (p.Pro16Leu)
|
rs34653805
|
|
NM_006005.3(WFS1):c.631+2T>G
|
rs543866098
|
|
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)
|
rs1565627304
|
|
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg)
|
rs35513449
|
|
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)
|
rs587784306
|
|
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)
|
rs200285580
|
|
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA
|
rs59957960
|
|
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1])
|
rs148596612
|
|
NM_006201.5(CDK16):c.1442T>C (p.Met481Thr)
|
rs2055280743
|
|
NM_006208.3(ENPP1):c.313+9del
|
rs377330284
|
|
NM_006231.4(POLE):c.2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-4dup
|
rs369732588
|
|
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)
|
rs2233783
|
|
NM_006265.3(RAD21):c.815-5del
|
rs35902828
|
|
NM_006265.3(RAD21):c.815-6_815-5del
|
rs35902828
|
|
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser)
|
rs2949962
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006579.3(EBP):c.-74+3G>C
|
rs188270695
|
|
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys)
|
rs115098969
|
|
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)
|
rs370638947
|
|
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del)
|
rs111662216
|
|
NM_006892.4(DNMT3B):c.1760-8C>T
|
rs2424926
|
|
NM_006904.7(PRKDC):c.9337-4del
|
rs11311765
|
|
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys)
|
rs145944049
|
|
NM_007078.3(LDB3):c.1318T>C (p.Ser440Pro)
|
rs868594949
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del)
|
rs569172957
|
|
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)
|
rs375513122
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013390.3(CEMIP2):c.3956-20_3956-18dup
|
rs36080695
|
|
NM_014208.3(DSPP):c.3024CAGCAGTGA[1] (p.1005DSS[3])
|
rs762157486
|
|
NM_014208.3(DSPP):c.3363_3371del (p.Asn1122_Ser1124del)
|
rs1448251809
|
|
NM_014208.3(DSPP):c.3695A>G (p.Asn1232Ser)
|
rs111876111
|
|
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)
|
rs4786350
|
|
NM_014780.5(CUL7):c.1168GAG[1] (p.Glu391del)
|
rs372224208
|
|
NM_014795.4(ZEB2):c.3067+6A>T
|
rs143450927
|
|
NM_014915.3(ANKRD26):c.1269+7_1269+9del
|
rs200015812
|
|
NM_014915.3(ANKRD26):c.1986-3dup
|
rs113123391
|
|
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del)
|
rs201964851
|
|
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys)
|
rs565845914
|
|
NM_014967.5(FAN1):c.2418C>T (p.Asp806=)
|
rs143461130
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del)
|
rs535036383
|
|
NM_015272.5(RPGRIP1L):c.3295-8del
|
rs113083177
|
|
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)
|
rs61758100
|
|
NM_015294.6(TRIM37):c.810-3del
|
rs367700401
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_016239.4(MYO15A):c.4038+8GT[25]
|
rs59214589
|
|
NM_016379.4(VCX3A):c.478G>A (p.Val160Met)
|
rs35874450
|
|
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)
|
rs201215245
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
NM_017677.4(MTMR8):c.185C>T (p.Pro62Leu)
|
rs145085079
|
|
NM_018026.4(PACS1):c.661-5C>G
|
rs79265330
|
|
NM_018075.5(ANO10):c.1219-23dup
|
rs367784953
|
|
NM_018082.6(POLR3B):c.1105_1106dup (p.Leu369fs)
|
rs2136999020
|
|
NM_018122.5(DARS2):c.228-12C>G
|
rs9425753
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
NM_018896.5(CACNA1G):c.354+5GT[16]
|
rs3833150
|
|
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)
|
rs2234253
|
|
NM_019066.5(MAGEL2):c.3140T>C (p.Val1047Ala)
|
rs576711188
|
|
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu)
|
rs370439294
|
|
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys)
|
rs116041505
|
|
NM_020223.4(FAM20C):c.953_956+30dup
|
rs771282640
|
|
NM_020297.4(ABCC9):c.1165-6del
|
rs35857705
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.817-7del
|
rs193922684
|
|
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del)
|
rs557068877
|
|
NM_020451.3(SELENON):c.1092+6C>G
|
rs148071754
|
|
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp)
|
rs537104966
|
|
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)
|
rs779283808
|
|
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del)
|
rs864309616
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_020964.3(EPG5):c.6622-23dup
|
rs11333207
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr)
|
rs1790057505
|
|
NM_021963.4(NAP1L2):c.19C>G (p.Arg7Gly)
|
rs746738327
|
|
NM_022370.4(ROBO3):c.571dup (p.Arg191fs)
|
rs756837590
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
NM_024079.5(ALG8):c.1349+1027_1349+1028del
|
rs35218171
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)
|
rs17024517
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024783.4(AGBL2):c.287-23_287-22dup
|
rs71228117
|
|
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg)
|
rs200477457
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
NM_030787.4(CFHR5):c.206G>A (p.Arg69His)
|
rs375843181
|
|
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup
|
rs138501563
|
|
NM_031921.6(ATAD3B):c.821T>A (p.Phe274Tyr)
|
rs200026807
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032122.5(DTNBP1):c.489-8dup
|
rs199770715
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_053274.3(GLMN):c.40-6del
|
rs372630078
|
|
NM_053274.3(GLMN):c.40-6dup
|
rs372630078
|
|
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla)
|
rs577386316
|
|
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp)
|
rs1196950915
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn)
|
rs369790491
|
|
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506
|
|
NM_133378.4(TTN):c.26780-19dup
|
rs397517532
|
|
NM_133379.5(TTN):c.10842A>G (p.Glu3614=)
|
rs796091067
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
|
rs147529495
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)
|
rs1268774120
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
NM_144969.3(ZDHHC15):c.380-5del
|
rs751518520
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152363.6(ANKLE1):c.*96GT[20]
|
rs58535756
|
|
NM_152989.5(SOX5):c.-99+1del
|
rs567491048
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.876G>A (p.Leu292=)
|
rs2102883669
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
NM_172362.3(KCNH1):c.80-19dup
|
rs56223346
|
|
NM_172362.3(KCNH1):c.80-6del
|
rs56223346
|
|
NM_172362.3(KCNH1):c.80-7_80-6del
|
rs56223346
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_177949.4(ARMCX2):c.628G>C (p.Gly210Arg)
|
rs137976844
|
|
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)
|
rs764056697
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-6dup
|
rs55633181
|
|
NM_182961.4(SYNE1):c.17203-7_17203-6del
|
rs55633181
|
|
NM_182961.4(SYNE1):c.9904A>G (p.Met3302Val)
|
rs1171056771
|
|
NM_198129.4(LAMA3):c.8576+7G>T
|
rs1258107
|
|
NM_198525.3(KIF7):c.2895+7C>T
|
rs549295826
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|
NM_201384.3(PLEC):c.1418+10G>C
|
rs782571969
|
|
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)
|
rs199758196
|
|
NM_207361.6(FREM2):c.2308G>A (p.Val770Met)
|
rs7327915
|
|
NM_213599.3(ANO5):c.2236-10del
|
rs72105710
|
|