NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_000054.7(AVPR2):c.26-6T>G
|
rs56689668
|
0.99968
|
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)
|
rs507329
|
0.99944
|
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr)
|
rs7560008
|
0.99785
|
NM_004525.3(LRP2):c.63G>C (p.Ala21=)
|
rs1559014
|
0.99771
|
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)
|
rs1552311
|
0.99732
|
NM_145649.5(GCNT2):c.926-34546C>G
|
rs539351
|
0.99662
|
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.97933
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97114
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_007327.4(GRIN1):c.1467+8G>A
|
rs10747050
|
0.95319
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94552
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93729
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93517
|
NM_198994.3(TGM6):c.172A>G (p.Met58Val)
|
rs2076405
|
0.93204
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
NM_000130.5(F5):c.5419+12A>G
|
rs6009
|
0.92435
|
NM_031433.4(MFRP):c.540T>C (p.His180=)
|
rs2510143
|
0.91859
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.91749
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023
|
0.91136
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90740
|
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)
|
rs7430407
|
0.90302
|
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
|
rs7614776
|
0.88431
|
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)
|
rs1800431
|
0.87890
|
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
|
rs4777502
|
0.87885
|
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val)
|
rs2487068
|
0.87306
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
NM_198525.3(KIF7):c.2658A>C (p.Ala886=)
|
rs3803531
|
0.85312
|
NM_030667.3(PTPRO):c.1106-10T>A
|
rs4764199
|
0.84939
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
NM_000552.5(VWF):c.7239T>C (p.Thr2413=)
|
rs216867
|
0.84456
|
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)
|
rs4836822
|
0.84114
|
NM_030928.4(CDT1):c.915T>C (p.His305=)
|
rs510862
|
0.83978
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
NM_000335.5(SCN5A):c.87A>G (p.Ala29=)
|
rs6599230
|
0.80621
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
NM_001308093.3(GATA4):c.617-113T>C
|
rs3735819
|
0.80128
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)
|
rs2075252
|
0.79497
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
NM_001103.4(ACTN2):c.877-8C>G
|
rs2288601
|
0.77958
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)
|
rs3826543
|
0.77529
|
NM_018136.5(ASPM):c.10331+8A>G
|
rs10754213
|
0.77181
|
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)
|
rs4915337
|
0.77164
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76700
|
NM_000601.6(HGF):c.1272-4A>G
|
rs1800793
|
0.76662
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76285
|
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)
|
rs1139405
|
0.75861
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_001994.3(F13B):c.344G>A (p.Arg115His)
|
rs6003
|
0.75658
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)
|
rs4766309
|
0.75219
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
NM_018136.5(ASPM):c.441+14C>T
|
rs1571964
|
0.74895
|
NM_018136.5(ASPM):c.849C>T (p.Ser283=)
|
rs6677082
|
0.74886
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878
|
0.74142
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
|
rs2292546
|
0.73525
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)
|
rs216311
|
0.71493
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.71351
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)
|
rs4837768
|
0.70962
|
NM_006005.3(WFS1):c.2565A>G (p.Ser855=)
|
rs1046316
|
0.70506
|
NM_024596.5(MCPH1):c.228G>T (p.Val76=)
|
rs2305022
|
0.69651
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_006005.3(WFS1):c.684C>G (p.Arg228=)
|
rs1801213
|
0.68223
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.67857
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_000505.4(F12):c.-4T>C
|
rs1801020
|
0.67118
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67099
|
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)
|
rs930557
|
0.67053
|
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)
|
rs10820900
|
0.66416
|
NM_000546.6(TP53):c.74+38C>G
|
rs1642785
|
0.66254
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_144599.5(NIPA1):c.441A>G (p.Thr147=)
|
rs11263683
|
0.65973
|
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)
|
rs4660468
|
0.65693
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
NM_001018005.2(TPM1):c.453C>A (p.Ala151=)
|
rs1071646
|
0.64628
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
|
rs1801214
|
0.63787
|
NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.63169
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)
|
rs2228524
|
0.62551
|
NM_001195248.2(APTX):c.484-13G>T
|
rs10123944
|
0.62521
|
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815
|
0.62374
|
NM_004247.4(EFTUD2):c.426+8G>A
|
rs2289677
|
0.62345
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)
|
rs3761863
|
0.61824
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.61566
|
NM_014271.4(IL1RAPL1):c.-19G>A
|
rs6526806
|
0.61514
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
NM_004525.3(LRP2):c.2025C>T (p.Val675=)
|
rs830994
|
0.61350
|
NM_001308093.3(GATA4):c.1000+56C>A
|
rs804280
|
0.61291
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.60691
|
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)
|
rs1800470
|
0.60129
|
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=)
|
rs990626
|
0.59977
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59853
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)
|
rs3772165
|
0.58882
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439
|
0.58185
|
NM_006005.3(WFS1):c.2433G>A (p.Lys811=)
|
rs1046314
|
0.57941
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_006005.3(WFS1):c.1185C>T (p.Val395=)
|
rs1801206
|
0.56648
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_018055.5(NODAL):c.494A>G (p.His165Arg)
|
rs1904589
|
0.56006
|
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801
|
0.55959
|
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802
|
0.55845
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086
|
0.55793
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_004525.3(LRP2):c.2460A>G (p.Thr820=)
|
rs2241190
|
0.54408
|
NM_015559.3(SETBP1):c.540+7405G>A
|
rs663651
|
0.54347
|
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)
|
rs6337
|
0.53946
|
NM_002769.5(PRSS1):c.738T>C (p.Asn246=)
|
rs6667
|
0.53816
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=)
|
rs831043
|
0.53755
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=)
|
rs2292597
|
0.53313
|
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=)
|
rs17261772
|
0.53257
|
NM_003331.5(TYK2):c.1669+7T>C
|
rs280519
|
0.52527
|
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52464
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
NM_000587.4(C7):c.1166G>C (p.Ser389Thr)
|
rs1063499
|
0.51910
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_000552.5(VWF):c.1451A>G (p.His484Arg)
|
rs1800378
|
0.51348
|
NM_001953.5(TYMP):c.972C>T (p.Ala324=)
|
rs131804
|
0.51130
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
NM_000217.3(KCNA1):c.804G>C (p.Thr268=)
|
rs2227910
|
0.50318
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)
|
rs2645339
|
0.49941
|
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)
|
rs1129768
|
0.49865
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)
|
rs1133779
|
0.49415
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793
|
0.48793
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn)
|
rs4548513
|
0.47526
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_000217.3(KCNA1):c.684T>C (p.Cys228=)
|
rs1048500
|
0.46819
|
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=)
|
rs4149057
|
0.46746
|
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)
|
rs1801195
|
0.46398
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
NM_000553.6(WRN):c.3138+7G>A
|
rs2737335
|
0.46283
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)
|
rs1056875
|
0.45696
|
NM_024596.5(MCPH1):c.2215-19A>G
|
rs2936531
|
0.45478
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353
|
0.45235
|
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)
|
rs10966
|
0.45223
|
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=)
|
rs2229265
|
0.45093
|
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=)
|
rs2291075
|
0.44938
|
NM_000754.4(COMT):c.186C>T (p.His62=)
|
rs4633
|
0.44697
|
NM_000553.6(WRN):c.2361G>T (p.Leu787=)
|
rs1800392
|
0.44630
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_000312.4(PROC):c.-50A>T
|
rs1799810
|
0.44475
|
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)
|
rs1805126
|
0.44288
|
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)
|
rs1050162
|
0.44262
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)
|
rs1050163
|
0.44235
|
NM_000754.4(COMT):c.472G>A (p.Val158Met)
|
rs4680
|
0.44044
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)
|
rs6107027
|
0.42961
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
NM_014000.3(VCL):c.2388G>A (p.Pro796=)
|
rs767809
|
0.42862
|
NM_000103.4(CYP19A1):c.*19C>T
|
rs10046
|
0.42803
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=)
|
rs28407527
|
0.42407
|
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)
|
rs3738725
|
0.42035
|
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328
|
0.41972
|
NM_000552.5(VWF):c.1548T>C (p.Tyr516=)
|
rs1800379
|
0.41956
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=)
|
rs2075249
|
0.41290
|
NM_004260.4(RECQL4):c.3236+13C>T
|
rs4244610
|
0.41215
|
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)
|
rs1063856
|
0.40814
|
NM_000552.5(VWF):c.2385T>C (p.Tyr795=)
|
rs1063857
|
0.40791
|
NM_005751.5(AKAP9):c.6945+8C>T
|
rs733957
|
0.40759
|
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)
|
rs11528010
|
0.40719
|
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)
|
rs7079481
|
0.40619
|
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39834
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_000553.6(WRN):c.3138+6C>T
|
rs3024239
|
0.39769
|
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn)
|
rs10997975
|
0.39270
|
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)
|
rs1806191
|
0.39095
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39011
|
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)
|
rs3207090
|
0.38895
|
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=)
|
rs2229267
|
0.38704
|
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=)
|
rs2227283
|
0.38493
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_020247.5(COQ8A):c.1573-20C>G
|
rs2297416
|
0.38143
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_001077415.3(CRELD1):c.1049-393C>T
|
rs3774207
|
0.37804
|
NM_000552.5(VWF):c.5844C>T (p.Cys1948=)
|
rs216902
|
0.37406
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35756
|
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804
|
0.35747
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000130.5(F5):c.3804T>C (p.Ser1268=)
|
rs1800594
|
0.33303
|
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser)
|
rs2229263
|
0.33289
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)
|
rs1860967
|
0.33038
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_000754.4(COMT):c.408C>G (p.Leu136=)
|
rs4818
|
0.32165
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)
|
rs2229760
|
0.31596
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_007294.4(BRCA1):c.4485-63C>G
|
rs273900734
|
0.30900
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_001614.5(ACTG1):c.930C>T (p.Ala310=)
|
rs1135989
|
0.30776
|
NM_001492.6(GDF1):c.353C>T (p.Ala118Val)
|
rs4808863
|
0.30267
|
NM_014714.4(IFT140):c.2253T>C (p.Pro751=)
|
rs2076436
|
0.30184
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
NM_021956.5(GRIK2):c.2312-9C>T
|
rs2227281
|
0.29507
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_000130.5(F5):c.5290A>G (p.Met1764Val)
|
rs6030
|
0.29437
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_021871.4(FGA):c.991A>G (p.Thr331Ala)
|
rs6050
|
0.29256
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
NM_006214.4(PHYH):c.636A>G (p.Thr212=)
|
rs473407
|
0.28866
|
NM_001083961.2(WDR62):c.700-18C>T
|
rs10423651
|
0.28763
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_014363.6(SACS):c.-13A>G
|
rs17078720
|
0.27905
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)
|
rs3219489
|
0.26720
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=)
|
rs1805482
|
0.26553
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_198994.3(TGM6):c.1476G>A (p.Lys492=)
|
rs2295077
|
0.26375
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=)
|
rs8107538
|
0.26133
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_177438.3(DICER1):c.4206+9G>T
|
rs1778057
|
0.25695
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr)
|
rs2228171
|
0.25207
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)
|
rs11575934
|
0.25155
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys)
|
rs1047991
|
0.24628
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
NM_031433.4(MFRP):c.406G>A (p.Val136Met)
|
rs3814762
|
0.24523
|
NM_000130.5(F5):c.2573A>G (p.Lys858Arg)
|
rs4524
|
0.24159
|
NM_000130.5(F5):c.2208C>T (p.Ile736=)
|
rs6016
|
0.24147
|
NM_000130.5(F5):c.2594A>G (p.His865Arg)
|
rs4525
|
0.24141
|
NM_000130.5(F5):c.2301A>G (p.Ser767=)
|
rs6021
|
0.24140
|
NM_000130.5(F5):c.2773A>G (p.Lys925Glu)
|
rs6032
|
0.24133
|
NM_000552.5(VWF):c.1182A>C (p.Ser394=)
|
rs1800376
|
0.24101
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23938
|
NM_033337.3(CAV3):c.123T>C (p.Phe41=)
|
rs13087941
|
0.23875
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
|
rs1806201
|
0.23527
|
NM_000130.5(F5):c.2235T>C (p.Asn745=)
|
rs6017
|
0.23336
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000552.5(VWF):c.1173A>T (p.Thr391=)
|
rs1800375
|
0.23172
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)
|
rs1126728
|
0.22903
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
NM_000130.5(F5):c.237A>G (p.Gln79=)
|
rs6028
|
0.22486
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902
|
0.22262
|
NM_001244008.2(KIF1A):c.3641-8C>T
|
rs56024577
|
0.22160
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
NM_000130.5(F5):c.3948C>T (p.Leu1316=)
|
rs9287090
|
0.21875
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro)
|
rs12632942
|
0.21722
|
NM_000383.4(AIRE):c.681C>T (p.Gly227=)
|
rs1055311
|
0.21613
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
|
rs446227
|
0.21425
|
NM_000404.4(GLB1):c.1233+8T>C
|
rs13093698
|
0.21250
|
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val)
|
rs15251
|
0.21165
|
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)
|
rs6720173
|
0.21159
|
NM_001395413.1(POR):c.378A>G (p.Pro126=)
|
rs1135612
|
0.20982
|
NM_005957.5(MTHFR):c.1167-76G>T
|
rs12121543
|
0.20910
|
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val)
|
rs57326399
|
0.20797
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)
|
rs2289674
|
0.20662
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20632
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.20556
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20255
|
NM_002465.4(MYBPC1):c.556+10C>G
|
rs61935677
|
0.20237
|
NM_005199.5(CHRNG):c.507-13C>T
|
rs2853462
|
0.20012
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_001130987.2(DYSF):c.6321+15C>T
|
rs2559082
|
0.19470
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=)
|
rs2501727
|
0.18906
|
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)
|
rs2228529
|
0.18890
|
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
|
rs35014209
|
0.18809
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_000587.4(C7):c.1759A>C (p.Thr587Pro)
|
rs13157656
|
0.18623
|
NM_058216.3(RAD51C):c.-26C>T
|
rs12946397
|
0.18608
|
NM_000383.4(AIRE):c.588C>T (p.Ser196=)
|
rs878081
|
0.18544
|
NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=)
|
rs2071238
|
0.17747
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.17704
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
NR_003051.4(RMRP):n.158G>C
|
rs7021463
|
0.17549
|
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met)
|
rs2306899
|
0.17541
|
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17482
|
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)
|
rs17737379
|
0.17356
|
NM_000431.4(MVK):c.510C>T (p.Asp170=)
|
rs2287218
|
0.17165
|
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)
|
rs855314
|
0.16859
|
NM_000335.5(SCN5A):c.1141-3C>A
|
rs41312433
|
0.16821
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=)
|
rs12063382
|
0.16345
|
NM_018136.5(ASPM):c.2174-20T>C
|
rs4915344
|
0.16253
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.16167
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215
|
0.15549
|
NM_053025.4(MYLK):c.782T>C (p.Val261Ala)
|
rs3796164
|
0.15515
|
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro)
|
rs6142775
|
0.15464
|
NM_000552.5(VWF):c.6846A>G (p.Thr2282=)
|
rs1053523
|
0.15412
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692
|
0.15398
|
NM_000552.5(VWF):c.954T>A (p.Asn318Lys)
|
rs1800387
|
0.15296
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870
|
0.14754
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser)
|
rs28661939
|
0.14124
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser)
|
rs10445686
|
0.14088
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
NM_001130987.2(DYSF):c.888+11T>C
|
rs13428076
|
0.13574
|
NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)
|
rs6472
|
0.13352
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12866
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_000265.7(NCF1):c.345C>T (p.Leu115=)
|
rs17356100
|
0.12720
|
NM_181882.3(PRX):c.306C>T (p.Thr102=)
|
rs744389
|
0.12409
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)
|
rs11575926
|
0.12190
|
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
|
rs8802
|
0.12189
|
NM_001734.5(C1S):c.356G>A (p.Arg119His)
|
rs12146727
|
0.12113
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)
|
rs4149056
|
0.12106
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)
|
rs16016
|
0.11927
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11879
|
NM_001710.5(CFB):c.95G>A (p.Arg32Gln)
|
rs641153
|
0.11820
|
NM_002335.4(LRP5):c.2220C>T (p.Asn740=)
|
rs2306862
|
0.11683
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.11417
|
NM_000431.4(MVK):c.155G>A (p.Ser52Asn)
|
rs7957619
|
0.11415
|
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)
|
rs2272946
|
0.11020
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10608
|
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)
|
rs755793
|
0.10553
|
NM_000383.4(AIRE):c.1095+6G>A
|
rs1800525
|
0.10544
|
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
|
rs2646258
|
0.10531
|
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)
|
rs2295190
|
0.10350
|
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
|
rs1801968
|
0.10301
|
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln)
|
rs74129455
|
0.10140
|
NM_001041.4(SI):c.4026A>G (p.Thr1342=)
|
rs74648160
|
0.10127
|
NM_004369.4(COL6A3):c.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=)
|
rs17394217
|
0.10011
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
NM_000142.5(FGFR3):c.445+3A>G
|
rs3135868
|
0.09950
|
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)
|
rs4253013
|
0.09896
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)
|
rs17403955
|
0.09853
|
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)
|
rs62415827
|
0.09842
|
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)
|
rs62415826
|
0.09832
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
NM_004360.5(CDH1):c.1937-13T>C
|
rs2276330
|
0.09635
|
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)
|
rs3729989
|
0.09621
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=)
|
rs6478475
|
0.09053
|
NM_001377.3(DYNC2H1):c.5558+4A>G
|
rs11225578
|
0.09042
|
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser)
|
rs138675433
|
0.09012
|
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro)
|
rs7630989
|
0.08988
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08896
|
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=)
|
rs61739560
|
0.08885
|
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=)
|
rs57593250
|
0.08881
|
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=)
|
rs34457678
|
0.08878
|
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala)
|
rs17301750
|
0.08745
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)
|
rs534399
|
0.08522
|
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln)
|
rs11643718
|
0.08381
|
NM_000214.3(JAG1):c.2214A>C (p.Thr738=)
|
rs1801140
|
0.08364
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
NM_000214.3(JAG1):c.267G>A (p.Gly89=)
|
rs1051415
|
0.08298
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
NM_000426.4(LAMA2):c.4523+19C>T
|
rs17057158
|
0.08168
|
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)
|
rs12968116
|
0.08072
|
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006
|
0.08064
|
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
|
rs11677877
|
0.08050
|
NM_024306.5(FA2H):c.1039+16T>G
|
rs7193407
|
0.07963
|
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
|
rs6092
|
0.07905
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)
|
rs56207956
|
0.07828
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_000222.3(KIT):c.1621A>C (p.Met541Leu)
|
rs3822214
|
0.07727
|
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=)
|
rs591040
|
0.07584
|
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser)
|
rs2066479
|
0.07555
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)
|
rs1060742
|
0.07465
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu)
|
rs6723526
|
0.07129
|
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=)
|
rs3750494
|
0.07110
|
NM_001377.3(DYNC2H1):c.12457-6C>T
|
rs11225812
|
0.07031
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
NM_000214.3(JAG1):c.744A>G (p.Pro248=)
|
rs10485741
|
0.06947
|
NM_001368067.1(LDB3):c.504T>C (p.Asp168=)
|
rs76615432
|
0.06909
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06890
|
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=)
|
rs11547779
|
0.06867
|
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr)
|
rs2289189
|
0.06844
|
NM_007078.3(LDB3):c.690-4842G>A
|
rs113445294
|
0.06823
|
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)
|
rs3737821
|
0.06797
|
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met)
|
rs17544552
|
0.06764
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
NM_014000.3(VCL):c.1506G>A (p.Arg502=)
|
rs2228373
|
0.06736
|
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)
|
rs13324293
|
0.06728
|
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_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)
|
rs17301028
|
0.06471
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_000257.4(MYH7):c.*113G>A
|
rs17794387
|
0.06427
|
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)
|
rs515299
|
0.06393
|
NM_001369268.1(ACAN):c.1221C>T (p.Val407=)
|
rs16942341
|
0.06383
|
NM_000335.5(SCN5A):c.274-24C>T
|
rs7627488
|
0.06378
|
NM_138477.4(CDAN1):c.3450+11C>T
|
rs56046122
|
0.06311
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
0.06258
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
|
rs57611801
|
0.06070
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
NM_002470.4(MYH3):c.2106C>T (p.Gly702=)
|
rs56259391
|
0.05968
|
NM_002470.4(MYH3):c.2610A>G (p.Lys870=)
|
rs56163389
|
0.05967
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)
|
rs56389778
|
0.05750
|
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)
|
rs79899502
|
0.05705
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
NM_032545.4(CFC1):c.140G>A (p.Arg47Gln)
|
rs201431919
|
0.05582
|
NM_013382.7(POMT2):c.162G>T (p.Ala54=)
|
rs2270420
|
0.05519
|
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=)
|
rs41315495
|
0.05498
|
NM_003172.4(SURF1):c.573C>G (p.Thr191=)
|
rs28715079
|
0.05492
|
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val)
|
rs73040625
|
0.05426
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
NM_007078.3(LDB3):c.1231+30C>G
|
rs11597201
|
0.05370
|
NM_025114.4(CEP290):c.442-19T>A
|
rs113132803
|
0.05334
|
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=)
|
rs41272387
|
0.05313
|
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=)
|
rs41272389
|
0.05312
|
NM_000431.4(MVK):c.405G>A (p.Ser135=)
|
rs34368092
|
0.05306
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly)
|
rs6782980
|
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_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_004646.4(NPHS1):c.3595-9G>T
|
rs77309273
|
0.05118
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05021
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05020
|
NM_002016.2(FLG):c.2857G>C (p.Glu953Gln)
|
rs201137357
|
0.05019
|
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)
|
rs5036
|
0.05002
|
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)
|
rs11558747
|
0.05001
|
NM_024675.4(PALB2):c.-47G>A
|
rs8053188
|
0.04991
|
NM_003172.4(SURF1):c.280T>C (p.Leu94=)
|
rs28615629
|
0.04975
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000218.3(KCNQ1):c.478-10G>A
|
rs28730752
|
0.04910
|
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=)
|
rs112634786
|
0.04897
|
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu)
|
rs16942318
|
0.04874
|
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)
|
rs17409162
|
0.04859
|
NM_000552.5(VWF):c.3414C>T (p.Asn1138=)
|
rs560397436
|
0.04853
|
NM_000257.4(MYH7):c.2923-18G>A
|
rs7157087
|
0.04825
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
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_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala)
|
rs12045447
|
0.04740
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
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_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_002230.4(JUP):c.1653+10C>A
|
rs73983658
|
0.04634
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)
|
rs143090627
|
0.04452
|
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)
|
rs33950747
|
0.04436
|
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=)
|
rs35737774
|
0.04434
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)
|
rs6910140
|
0.04394
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)
|
rs58465962
|
0.04390
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_005677.4(COLQ):c.366+7A>G
|
rs750387
|
0.04329
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp)
|
rs11757455
|
0.04245
|
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu)
|
rs61747420
|
0.04243
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_000335.5(SCN5A):c.2788-6C>T
|
rs41260344
|
0.04241
|
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg)
|
rs7962217
|
0.04240
|
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)
|
rs41309927
|
0.04225
|
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)
|
rs1139406
|
0.04214
|
NM_032545.4(CFC1):c.61A>C (p.Asn21His)
|
rs199607550
|
0.04207
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)
|
rs1139807
|
0.04188
|
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile)
|
rs137978188
|
0.04174
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657
|
0.04171
|
NM_207346.3(TSEN54):c.568G>A (p.Val190Met)
|
rs79508780
|
0.04141
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)
|
rs112723255
|
0.04015
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)
|
rs2274976
|
0.03996
|
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)
|
rs112787369
|
0.03993
|
NM_198525.3(KIF7):c.-5T>G
|
rs62021460
|
0.03972
|
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)
|
rs4894028
|
0.03961
|
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=)
|
rs11643513
|
0.03937
|
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys)
|
rs35009641
|
0.03933
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
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_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=)
|
rs56179521
|
0.03852
|
NM_001035.3(RYR2):c.13564-41A>G
|
rs114289907
|
0.03849
|
NM_001165963.4(SCN1A):c.2176+17A>G
|
rs59251406
|
0.03846
|
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_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_003919.3(SGCE):c.1253+812G>A
|
rs559235992
|
0.03668
|
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=)
|
rs2577126
|
0.03652
|
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_000702.4(ATP1A2):c.1704C>T (p.Phe568=)
|
rs17846714
|
0.03612
|
NM_032545.4(CFC1):c.588C>A (p.Pro196=)
|
rs587780885
|
0.03574
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
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_000069.3(CACNA1S):c.206C>G (p.Ala69Gly)
|
rs12406479
|
0.03481
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=)
|
rs34975493
|
0.03463
|
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=)
|
rs9926309
|
0.03447
|
NM_181741.4(ORC4):c.166C>G (p.Leu56Val)
|
rs2307397
|
0.03439
|
NM_001927.4(DES):c.736-35C>A
|
rs41272701
|
0.03434
|
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_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)
|
rs76793093
|
0.03409
|
NM_001287.6(CLCN7):c.900G>A (p.Ala300=)
|
rs41286695
|
0.03405
|
NM_000363.5(TNNI3):c.198G>A (p.Glu66=)
|
rs3729710
|
0.03372
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_000552.5(VWF):c.6798+14C>T
|
rs7315124
|
0.03357
|
NM_002230.4(JUP):c.405C>T (p.Asp135=)
|
rs17850807
|
0.03356
|
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)
|
rs36014111
|
0.03348
|
NM_000702.4(ATP1A2):c.1652-11C>G
|
rs17846713
|
0.03344
|
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_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_000063.6(C2):c.954G>C (p.Glu318Asp)
|
rs9332739
|
0.03307
|
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln)
|
rs2066518
|
0.03294
|
NM_001710.6(CFB):c.504G>A (p.Pro168=)
|
rs4151669
|
0.03288
|
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=)
|
rs34891041
|
0.03277
|
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)
|
rs59736804
|
0.03276
|
NM_000540.3(RYR1):c.12094+11A>G
|
rs73933018
|
0.03267
|
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_000062.3(SERPING1):c.-21T>C
|
rs28362944
|
0.03250
|
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)
|
rs61735627
|
0.03239
|
NM_003476.5(CSRP3):c.150G>A (p.Ala50=)
|
rs7124801
|
0.03207
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_001009944.3(PKD1):c.8948+17A>G
|
rs9928442
|
0.03177
|
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile)
|
rs3740321
|
0.03151
|
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe)
|
rs35877720
|
0.03139
|
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser)
|
rs149022148
|
0.03132
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)
|
rs34373049
|
0.03090
|
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys)
|
rs6791924
|
0.03086
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_144672.4(OTOA):c.2229C>T (p.Ala743=)
|
rs461179
|
0.03046
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123
|
0.03029
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.03009
|
NM_002474.3(MYH11):c.792T>C (p.Tyr264=)
|
rs34341838
|
0.03006
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
0.02993
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr)
|
rs17508082
|
0.02979
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02972
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=)
|
rs41313954
|
0.02943
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
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_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_198525.3(KIF7):c.2043T>A (p.Val681=)
|
rs72750755
|
0.02861
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)
|
rs34536443
|
0.02850
|
NM_014000.3(VCL):c.945C>A (p.Gly315=)
|
rs61731180
|
0.02850
|
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_002234.4(KCNA5):c.381C>T (p.Ser127=)
|
rs45504599
|
0.02823
|
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys)
|
rs73775407
|
0.02812
|
NM_001458.5(FLNC):c.5669-12C>T
|
rs79790270
|
0.02786
|
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)
|
rs73973133
|
0.02781
|
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)
|
rs34509421
|
0.02777
|
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)
|
rs2307131
|
0.02758
|
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
|
rs33958626
|
0.02731
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_000092.5(COL4A4):c.2165-15T>G
|
rs60344965
|
0.02703
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)
|
rs59035258
|
0.02701
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02700
|
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)
|
rs36121515
|
0.02697
|
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_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr)
|
rs61736615
|
0.02652
|
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)
|
rs4790235
|
0.02635
|
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=)
|
rs35516880
|
0.02629
|
NM_004369.4(COL6A3):c.1313-17A>G
|
rs7579816
|
0.02624
|
NM_002661.5(PLCG2):c.770A>T (p.His257Leu)
|
rs45443101
|
0.02615
|
NM_001267550.2(TTN):c.8116+19G>A
|
rs13011633
|
0.02607
|
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_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=)
|
rs36044575
|
0.02562
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=)
|
rs3739822
|
0.02551
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys)
|
rs61560753
|
0.02514
|
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_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
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_000214.3(JAG1):c.270G>T (p.Gly90=)
|
rs114048678
|
0.02490
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)
|
rs9680797
|
0.02487
|
NM_005159.5(ACTC1):c.927T>C (p.Pro309=)
|
rs2307493
|
0.02473
|
NM_004415.4(DSP):c.273+10C>T
|
rs56148603
|
0.02451
|
NM_002470.4(MYH3):c.5457+3G>A
|
rs200954595
|
0.02449
|
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro)
|
rs80132640
|
0.02449
|
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)
|
rs7908490
|
0.02441
|
NM_000441.2(SLC26A4):c.1708-18T>A
|
rs55701254
|
0.02432
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
NM_000069.3(CACNA1S):c.2063+7G>T
|
rs79984703
|
0.02430
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_001134363.3(RBM20):c.1801-11G>C
|
rs12572941
|
0.02426
|
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln)
|
rs55865069
|
0.02422
|
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)
|
rs61735268
|
0.02395
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met)
|
rs61737718
|
0.02389
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
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_000214.3(JAG1):c.924C>T (p.Asn308=)
|
rs45575136
|
0.02367
|
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_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_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
NM_133379.5(TTN):c.13476C>T (p.Asp4492=)
|
rs72648904
|
0.02326
|
NM_001103.4(ACTN2):c.-22C>T
|
rs138279482
|
0.02321
|
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_000426.4(LAMA2):c.8028T>C (p.Asn2676=)
|
rs35313209
|
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_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
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_004260.4(RECQL4):c.1258+6A>T
|
rs34437789
|
0.02229
|
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)
|
rs34225933
|
0.02221
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_003227.4(TFR2):c.2255G>A (p.Arg752His)
|
rs41295942
|
0.02204
|
NM_003098.3(SNTA1):c.807T>C (p.Asn269=)
|
rs73270015
|
0.02196
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)
|
rs116605521
|
0.02188
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_014855.3(AP5Z1):c.1708-14C>T
|
rs118139547
|
0.02183
|
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr)
|
rs78247455
|
0.02182
|
NM_000214.3(JAG1):c.2917-30A>G
|
rs6108652
|
0.02177
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=)
|
rs58343499
|
0.02173
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_024675.4(PALB2):c.212-58A>C
|
rs80291632
|
0.02171
|
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=)
|
rs3218719
|
0.02170
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02158
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
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_002470.4(MYH3):c.3938C>T (p.Thr1313Ile)
|
rs35230241
|
0.02138
|
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_001232.4(CASQ2):c.1005T>C (p.Asn335=)
|
rs28730712
|
0.02116
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000091.5(COL4A3):c.3751+66C>T
|
rs55843236
|
0.02109
|
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=)
|
rs55895721
|
0.02109
|
NM_020433.5(JPH2):c.1289-7C>T
|
rs116986535
|
0.02105
|
NM_000144.5(FXN):c.-7G>A
|
rs145006100
|
0.02101
|
NM_004260.4(RECQL4):c.3393+9A>G
|
rs4251692
|
0.02095
|
NM_001710.6(CFB):c.672C>T (p.Tyr224=)
|
rs4151670
|
0.02070
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_000142.5(FGFR3):c.1076-17C>T
|
rs17881967
|
0.02051
|
NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_002608.4(PDGFB):c.453C>G (p.Val151=)
|
rs55634318
|
0.02038
|
NM_000069.3(CACNA1S):c.2748C>T (p.His916=)
|
rs2297902
|
0.02034
|
NM_001165963.4(SCN1A):c.1662+9C>A
|
rs7559148
|
0.02030
|
NM_145239.3(PRRT2):c.*55C>A
|
rs141436390
|
0.02027
|
NM_002292.4(LAMB2):c.306C>T (p.Asn102=)
|
rs79448908
|
0.02014
|
NM_017636.4(TRPM4):c.449-10G>A
|
rs78444754
|
0.02013
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
|
rs3731249
|
0.02007
|
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.87669T>C (p.His29223=)
|
rs72648229
|
0.01997
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01994
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
NM_033118.4(MYLK2):c.1082+11G>A
|
rs76530988
|
0.01993
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)
|
rs35274867
|
0.01982
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_001927.4(DES):c.-30_-18dup
|
rs794728983
|
0.01968
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=)
|
rs72851170
|
0.01961
|
NM_001710.6(CFB):c.1365C>T (p.Val455=)
|
rs2072634
|
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_001037.5(SCN1B):c.501T>C (p.Ile167=)
|
rs16969930
|
0.01942
|
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)
|
rs117781224
|
0.01941
|
NM_153700.2(STRC):c.3360T>C (p.Cys1120=)
|
rs56385906
|
0.01920
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr)
|
rs61749223
|
0.01916
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)
|
rs35997569
|
0.01914
|
NM_133379.5(TTN):c.13869T>G (p.Ser4623=)
|
rs72648906
|
0.01910
|
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)
|
rs75909145
|
0.01900
|
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val)
|
rs72719663
|
0.01896
|
NM_018075.5(ANO10):c.788G>A (p.Arg263His)
|
rs41289586
|
0.01896
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)
|
rs2229792
|
0.01881
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile)
|
rs62347360
|
0.01871
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
NM_014391.3(ANKRD1):c.346-15T>A
|
rs11595794
|
0.01849
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg)
|
rs62620248
|
0.01839
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)
|
rs34811413
|
0.01825
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr)
|
rs28932177
|
0.01809
|
NM_018136.5(ASPM):c.2419+12G>A
|
rs77191836
|
0.01806
|
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr)
|
rs73062575
|
0.01804
|
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=)
|
rs74339620
|
0.01800
|
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe)
|
rs57389274
|
0.01798
|
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)
|
rs5739
|
0.01794
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_000540.3(RYR1):c.12624+14C>T
|
rs75797287
|
0.01777
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
NM_017636.4(TRPM4):c.3641-19C>G
|
rs7256050
|
0.01753
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile)
|
rs61733388
|
0.01749
|
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)
|
rs80243096
|
0.01747
|
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)
|
rs35662416
|
0.01746
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_003212.4(CRIPTO):c.331C>G (p.Arg111Gly)
|
rs34501971
|
0.01743
|
NM_000083.3(CLCN1):c.2284+5C>T
|
rs74824159
|
0.01735
|
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=)
|
rs2306220
|
0.01733
|
NR_001566.3(TERC):n.58G>A
|
rs113487931
|
0.01733
|
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)
|
rs35807406
|
0.01728
|
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=)
|
rs34997144
|
0.01727
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile)
|
rs72648903
|
0.01724
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser)
|
rs35349917
|
0.01717
|
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_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_000256.3(MYBPC3):c.926+25C>A
|
rs3729991
|
0.01693
|
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=)
|
rs116666272
|
0.01688
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
NM_001852.4(COL9A2):c.955-4C>G
|
rs118135975
|
0.01678
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)
|
rs56270948
|
0.01676
|
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_004252.5(NHERF1):c.328C>G (p.Leu110Val)
|
rs35910969
|
0.01664
|
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)
|
rs34080459
|
0.01664
|
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)
|
rs2229815
|
0.01659
|
NM_000142.5(FGFR3):c.1075+5C>T
|
rs3135885
|
0.01659
|
NM_002354.3(EPCAM):c.*265A>T
|
rs11554292
|
0.01658
|
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_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
|
rs5742912
|
0.01653
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His)
|
rs115610405
|
0.01644
|
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys)
|
rs58073789
|
0.01638
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_001134831.2(AHI1):c.2624-6A>G
|
rs41288015
|
0.01635
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01633
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
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_152296.5(ATP1A3):c.994-20T>G
|
rs138485069
|
0.01603
|
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=)
|
rs142518033
|
0.01592
|
NM_002230.4(JUP):c.867C>T (p.Thr289=)
|
rs2230407
|
0.01591
|
NM_000186.4(CFH):c.477T>C (p.Ser159=)
|
rs34940854
|
0.01586
|
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=)
|
rs75858380
|
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_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)
|
rs118191062
|
0.01583
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
NM_000051.4(ATM):c.2125-68T>C
|
rs2235008
|
0.01573
|
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly)
|
rs9332745
|
0.01573
|
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)
|
rs113488591
|
0.01568
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_001614.5(ACTG1):c.729C>T (p.Pro243=)
|
rs2230159
|
0.01563
|
NM_000256.3(MYBPC3):c.1897+47G>A
|
rs11570086
|
0.01559
|
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met)
|
rs7771303
|
0.01556
|
NM_000048.4(ASL):c.718+14A>T
|
rs117035302
|
0.01554
|
NM_000063.6(C2):c.1922T>C (p.Val641Ala)
|
rs36221133
|
0.01554
|
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_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)
|
rs17215465
|
0.01545
|
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser)
|
rs12110554
|
0.01544
|
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_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
NM_002473.6(MYH9):c.3838-12C>T
|
rs113698937
|
0.01529
|
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_001458.5(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
0.01520
|
NM_000186.4(CFH):c.245-7G>A
|
rs35814900
|
0.01519
|
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_001458.5(FLNC):c.1374C>T (p.Pro458=)
|
rs115140972
|
0.01514
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
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_015338.6(ASXL1):c.374-9C>T
|
rs6087903
|
0.01488
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489
|
0.01481
|
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)
|
rs4253027
|
0.01480
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01476
|
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=)
|
rs28379666
|
0.01465
|
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)
|
rs35737219
|
0.01462
|
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_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01445
|
NM_001276345.2(TNNT2):c.163+12G>A
|
rs45580032
|
0.01441
|
NM_001374353.1(GLI2):c.963C>G (p.Pro321=)
|
rs149894186
|
0.01440
|
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)
|
rs11570097
|
0.01438
|
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)
|
rs12493789
|
0.01436
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_000257.4(MYH7):c.1002C>T (p.Asn334=)
|
rs34803781
|
0.01418
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)
|
rs11570076
|
0.01409
|
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)
|
rs116888435
|
0.01403
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
NM_002294.3(LAMP2):c.*2746A>G
|
rs3827478
|
0.01396
|
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_007294.4(BRCA1):c.*36C>G
|
rs3092995
|
0.01385
|
NM_000048.4(ASL):c.1164C>T (p.His388=)
|
rs75300185
|
0.01380
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_000204.5(CFI):c.482+14T>A
|
rs76014294
|
0.01365
|
NM_024422.6(DSC2):c.2251-27C>A
|
rs151289743
|
0.01365
|
NM_000257.4(MYH7):c.1408-42del
|
rs45490796
|
0.01363
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=)
|
rs41313699
|
0.01360
|
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_032545.4(CFC1):c.606G>C (p.Leu202=)
|
rs587780887
|
0.01351
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
|
rs34070843
|
0.01345
|
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met)
|
rs74717885
|
0.01345
|
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln)
|
rs12136658
|
0.01344
|
NM_002471.4(MYH6):c.399G>A (p.Val133=)
|
rs78891557
|
0.01343
|
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)
|
rs11648119
|
0.01341
|
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)
|
rs28763968
|
0.01341
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_001035.3(RYR2):c.6928+4G>A
|
rs79862521
|
0.01335
|
NM_001276345.2(TNNT2):c.851+22C>T
|
rs45495692
|
0.01327
|
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)
|
rs113284476
|
0.01323
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
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_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
NM_000552.5(VWF):c.5843-8C>G
|
rs34444862
|
0.01303
|
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)
|
rs2228387
|
0.01303
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=)
|
rs56226196
|
0.01290
|
NM_001232.4(CASQ2):c.226G>A (p.Val76Met)
|
rs10801999
|
0.01289
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000051.4(ATM):c.3403-34T>A
|
rs148368017
|
0.01280
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572
|
0.01280
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_004621.6(TRPC6):c.-10C>A
|
rs191383391
|
0.01276
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)
|
rs34396614
|
0.01268
|
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_003119.4(SPG7):c.9G>T (p.Val3=)
|
rs553241838
|
0.01255
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_003476.5(CSRP3):c.415-30T>C
|
rs7103779
|
0.01252
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
NM_000540.3(RYR1):c.12012+19T>C
|
rs181590606
|
0.01243
|
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser)
|
rs80120912
|
0.01243
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_001458.5(FLNC):c.6004+19G>A
|
rs12530507
|
0.01231
|
NM_000092.5(COL4A4):c.559-21A>G
|
rs56306477
|
0.01229
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
NM_002878.4(RAD51D):c.903+53C>T
|
rs45496096
|
0.01225
|
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)
|
rs16012
|
0.01217
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01213
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_000092.5(COL4A4):c.3818-45T>A
|
rs55886181
|
0.01195
|
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)
|
rs61898615
|
0.01194
|
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_001276345.2(TNNT2):c.42-20G>A
|
rs45561443
|
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_145046.5(CALR3):c.861G>A (p.Thr287=)
|
rs118131979
|
0.01186
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
NM_020297.4(ABCC9):c.789C>T (p.Cys263=)
|
rs58386780
|
0.01183
|
NM_000092.5(COL4A4):c.2717-5A>T
|
rs1800519
|
0.01182
|
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
|
rs61729223
|
0.01181
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly)
|
rs35763277
|
0.01174
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_001614.5(ACTG1):c.177G>A (p.Gln59=)
|
rs11549220
|
0.01161
|
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)
|
rs61731476
|
0.01161
|
NM_000257.4(MYH7):c.3972+15C>T
|
rs3729820
|
0.01159
|
NM_003722.5(TP63):c.1652+14A>C
|
rs150685395
|
0.01158
|
NM_000064.4(C3):c.783C>T (p.Tyr261=)
|
rs2230200
|
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_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
NM_001367805.3(KIF23):c.1585T>C (p.Phe529Leu)
|
rs17310879
|
0.01142
|
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)
|
rs115493456
|
0.01140
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg)
|
rs35632616
|
0.01138
|
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=)
|
rs79286201
|
0.01125
|
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn)
|
rs59291670
|
0.01123
|
NM_001035.3(RYR2):c.10230+20T>C
|
rs74323916
|
0.01122
|
NM_001171.6(ABCC6):c.4208+9G>A
|
rs58760581
|
0.01119
|
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_153676.4(USH1C):c.819+10G>C
|
rs41282936
|
0.01105
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_001943.5(DSG2):c.3243C>T (p.Val1081=)
|
rs11542379
|
0.01097
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)
|
rs371877084
|
0.01088
|
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=)
|
rs62426382
|
0.01086
|
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_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)
|
rs36049418
|
0.01075
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
NM_020632.3(ATP6V0A4):c.417+14G>C
|
rs141824671
|
0.01075
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_130797.4(DPP6):c.227A>T (p.Asp76Val)
|
rs572667303
|
0.01073
|
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_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys)
|
rs41274090
|
0.01060
|
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu)
|
rs111965755
|
0.01059
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
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_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01053
|
NM_002471.4(MYH6):c.2946G>A (p.Glu982=)
|
rs145274612
|
0.01048
|
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)
|
rs41289902
|
0.01045
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)
|
rs144397126
|
0.01035
|
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu)
|
rs75198607
|
0.01032
|
NM_001458.5(FLNC):c.2266-14G>C
|
rs75612085
|
0.01030
|
NM_001035.3(RYR2):c.2397-6C>T
|
rs78165942
|
0.01029
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)
|
rs189888707
|
0.01025
|
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)
|
rs28763964
|
0.01023
|
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=)
|
rs112018640
|
0.01020
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
NM_007294.4(BRCA1):c.212+23T>A
|
rs8176128
|
0.01018
|
NM_000096.4(CP):c.2286-12T>G
|
rs183671127
|
0.01016
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
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_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val)
|
rs61741216
|
0.00991
|
NM_007078.3(LDB3):c.1231+24G>A
|
rs45477098
|
0.00986
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_152246.3(CPT1B):c.1876-15A>G
|
rs41309651
|
0.00986
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
|
rs142735148
|
0.00983
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_052989.3(IFT122):c.1854C>T (p.Ser618=)
|
rs146874343
|
0.00981
|
NM_000064.4(C3):c.4457-5C>T
|
rs344554
|
0.00979
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu)
|
rs61749044
|
0.00973
|
NM_006767.4(LZTR1):c.2219+13C>T
|
rs144005025
|
0.00972
|
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)
|
rs149140724
|
0.00970
|
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=)
|
rs11896779
|
0.00966
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)
|
rs61746722
|
0.00962
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00960
|
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu)
|
rs1007211
|
0.00957
|
NM_001018005.2(TPM1):c.851+99dup
|
rs201411148
|
0.00955
|
NM_003098.3(SNTA1):c.555C>T (p.Val185=)
|
rs34995247
|
0.00948
|
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)
|
rs117817123
|
0.00946
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
NM_014946.4(SPAST):c.879G>A (p.Pro293=)
|
rs145264166
|
0.00943
|
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)
|
rs28763969
|
0.00940
|
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=)
|
rs35653697
|
0.00937
|
NM_000051.4(ATM):c.3993+40G>A
|
rs3218709
|
0.00933
|
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=)
|
rs147871745
|
0.00930
|
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=)
|
rs373345984
|
0.00929
|
NM_170707.4(LMNA):c.1158-44C>T
|
rs141879453
|
0.00929
|
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)
|
rs112545413
|
0.00927
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_001037.5(SCN1B):c.591-14C>A
|
rs28365109
|
0.00920
|
NM_024675.4(PALB2):c.925A>G (p.Ile309Val)
|
rs3809683
|
0.00919
|
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile)
|
rs2230235
|
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_000552.5(VWF):c.5313G>T (p.Gly1771=)
|
rs2229448
|
0.00914
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys)
|
rs35629489
|
0.00908
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)
|
rs192289289
|
0.00900
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_001377.3(DYNC2H1):c.4968+18G>A
|
rs144263658
|
0.00894
|
NM_001374353.1(GLI2):c.-7G>A
|
rs112131051
|
0.00890
|
NM_194248.3(OTOF):c.710+10C>T
|
rs55639868
|
0.00890
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_000540.3(RYR1):c.10259+7G>A
|
rs143752962
|
0.00875
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
NM_001276345.2(TNNT2):c.68-8A>G
|
rs115805892
|
0.00864
|
NM_001128178.3(NPHP1):c.772-17G>A
|
rs146343637
|
0.00862
|
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)
|
rs76974316
|
0.00862
|
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_000335.5(SCN5A):c.4215G>A (p.Gly1405=)
|
rs41311123
|
0.00859
|
NM_000059.4(BRCA2):c.7806-40A>G
|
rs9590939
|
0.00858
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
NM_004100.5(EYA4):c.1845C>T (p.Asn615=)
|
rs142721902
|
0.00854
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
NM_006514.4(SCN10A):c.5089G>A (p.Val1697Ile)
|
rs77804526
|
0.00850
|
NM_001458.5(FLNC):c.2390-14C>T
|
rs71581921
|
0.00843
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00842
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=)
|
rs117901891
|
0.00839
|
NM_024422.6(DSC2):c.351A>G (p.Thr117=)
|
rs117812913
|
0.00832
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
NM_000186.4(CFH):c.2634C>T (p.His878=)
|
rs35292876
|
0.00829
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)
|
rs117367857
|
0.00826
|
NM_000051.4(ATM):c.8419-19A>G
|
rs12279930
|
0.00824
|
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)
|
rs36210417
|
0.00822
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr)
|
rs3737564
|
0.00806
|
NM_133379.5(TTN):c.14244T>C (p.Leu4748=)
|
rs139669372
|
0.00806
|
NM_133497.4(KCNV2):c.849G>A (p.Glu283=)
|
rs17656693
|
0.00801
|
NM_194248.3(OTOF):c.2025G>A (p.Glu675=)
|
rs61746988
|
0.00801
|
NM_000141.5(FGFR2):c.109+10T>G
|
rs3135722
|
0.00799
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)
|
rs2228439
|
0.00793
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)
|
rs35914325
|
0.00788
|
NM_000257.4(MYH7):c.4520-25C>T
|
rs45503601
|
0.00787
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_002900.3(RBP3):c.1037G>A (p.Arg346His)
|
rs111245635
|
0.00786
|
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)
|
rs58668703
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00776
|
NM_006005.3(WFS1):c.1308C>T (p.Thr436=)
|
rs71539646
|
0.00773
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)
|
rs61688134
|
0.00769
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)
|
rs1800172
|
0.00760
|
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_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
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_000186.4(CFH):c.1159+19T>G
|
rs35695425
|
0.00756
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
NM_002230.4(JUP):c.1563A>G (p.Ala521=)
|
rs149926974
|
0.00753
|
NM_014000.3(VCL):c.2950-22C>G
|
rs71579378
|
0.00753
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=)
|
rs137914723
|
0.00748
|
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser)
|
rs3746609
|
0.00747
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=)
|
rs149056734
|
0.00736
|
NM_032588.4(TRIM63):c.135G>C (p.Arg45=)
|
rs61760891
|
0.00733
|
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_014476.6(PDLIM3):c.162C>T (p.Gly54=)
|
rs112661328
|
0.00729
|
NM_000501.4(ELN):c.1622-13C>T
|
rs41362346
|
0.00728
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
NM_198994.3(TGM6):c.42G>A (p.Ser14=)
|
rs149394698
|
0.00719
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_006214.4(PHYH):c.678+15C>T
|
rs140995522
|
0.00717
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
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_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)
|
rs146407262
|
0.00703
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
NM_001035.3(RYR2):c.13260+14A>G
|
rs141528541
|
0.00700
|
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_001927.4(DES):c.735+20C>T
|
rs151226355
|
0.00694
|
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
|
rs16962093
|
0.00694
|
NM_181486.4(TBX5):c.982+16C>T
|
rs28730762
|
0.00694
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_001126049.2(KLLN):c.-956G>T
|
rs34149102
|
0.00683
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
NM_000092.5(COL4A4):c.666G>A (p.Pro222=)
|
rs111945121
|
0.00676
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
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_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00673
|
NM_000350.3(ABCA4):c.*10C>A
|
rs145634012
|
0.00671
|
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)
|
rs76815324
|
0.00667
|
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_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
NM_030787.4(CFHR5):c.429T>C (p.Thr143=)
|
rs140215003
|
0.00665
|
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_017636.4(TRPM4):c.301G>A (p.Ala101Thr)
|
rs113984787
|
0.00662
|
NM_017636.4(TRPM4):c.306T>G (p.Val102=)
|
rs111783027
|
0.00662
|
NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=)
|
rs117187677
|
0.00662
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)
|
rs35924492
|
0.00660
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00659
|
NM_000791.4(DHFR):c.-259C>T
|
rs6151597
|
0.00658
|
NM_014000.3(VCL):c.2801C>T (p.Ala934Val)
|
rs16931179
|
0.00658
|
NM_000064.4(C3):c.1976-19C>T
|
rs11569433
|
0.00656
|
NM_000059.4(BRCA2):c.5704G>A
|
rs4987048
|
0.00655
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
NM_138295.5(PKD1L1):c.2675+4C>T
|
rs143005953
|
0.00651
|
NM_006514.4(SCN10A):c.3087+15C>T
|
rs140924179
|
0.00650
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=)
|
rs111381107
|
0.00641
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_017449.5(EPHB2):c.2625A>G (p.Gln875=)
|
rs55993650
|
0.00638
|
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_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
NM_002055.5(GFAP):c.738G>A (p.Ala246=)
|
rs147404772
|
0.00636
|
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln)
|
rs146797353
|
0.00635
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)
|
rs113053616
|
0.00634
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)
|
rs11924644
|
0.00629
|
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)
|
rs11915053
|
0.00629
|
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_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_002230.4(JUP):c.1224C>T (p.Leu408=)
|
rs2230408
|
0.00620
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
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_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_000540.3(RYR1):c.573C>T (p.Asp191=)
|
rs892054
|
0.00607
|
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)
|
rs116890187
|
0.00606
|
NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs)
|
rs587780460
|
0.00605
|
NM_001289104.2(PRKCSH):c.351-5C>T
|
rs76485217
|
0.00604
|
NM_000051.4(ATM):c.*29C>G
|
rs3218711
|
0.00603
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00603
|
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val)
|
rs116775947
|
0.00602
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)
|
rs36083134
|
0.00599
|
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)
|
rs4547
|
0.00598
|
NM_001018020.2(TPM1):c.*31G>A
|
rs11558748
|
0.00598
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
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_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001292034.3(TAB2):c.1128G>A (p.Thr376=)
|
rs34220315
|
0.00594
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
NM_001349253.2(SCN11A):c.757C>T (p.Leu253=)
|
rs36084747
|
0.00591
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
NM_014625.4(NPHS2):c.891G>A (p.Ala297=)
|
rs5005771
|
0.00589
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_000460.4(THPO):c.-259G>A
|
rs41266279
|
0.00584
|
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_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg)
|
rs61757673
|
0.00583
|
NM_172351.3(CD46):c.417A>G (p.Leu139=)
|
rs12126088
|
0.00583
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_181703.4(GJA5):c.369C>T (p.Tyr123=)
|
rs2232191
|
0.00582
|
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)
|
rs114008185
|
0.00577
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)
|
rs201050491
|
0.00575
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
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_002016.2(FLG):c.10262G>A (p.Ser3421Asn)
|
rs139262132
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu)
|
rs140909116
|
0.00562
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_000432.4(MYL2):c.381G>A (p.Ala127=)
|
rs2233261
|
0.00558
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_001126108.2(SLC12A3):c.2857-6G>A
|
rs117981500
|
0.00557
|
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn)
|
rs116988549
|
0.00557
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_002230.4(JUP):c.1774-13C>T
|
rs116772523
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=)
|
rs145833752
|
0.00550
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
NM_000257.4(MYH7):c.3853+21C>T
|
rs45584435
|
0.00548
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_000085.5(CLCNKB):c.1297+5G>T
|
rs35351345
|
0.00544
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
NM_005585.5(SMAD6):c.711C>T (p.His237=)
|
rs144415105
|
0.00542
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
NM_001308093.3(GATA4):c.912+25G>A
|
rs147860174
|
0.00539
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=)
|
rs150391716
|
0.00538
|
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)
|
rs144384573
|
0.00538
|
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=)
|
rs41313687
|
0.00537
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)
|
rs186075307
|
0.00532
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00531
|
NM_015915.5(ATL1):c.1230G>A (p.Gly410=)
|
rs148548325
|
0.00531
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_001710.6(CFB):c.600C>T (p.Ser200=)
|
rs113197809
|
0.00527
|
NM_000218.3(KCNQ1):c.720C>T (p.His240=)
|
rs28730754
|
0.00524
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_000540.3(RYR1):c.10938-17A>G
|
rs181147531
|
0.00513
|
NM_000722.4(CACNA2D1):c.659-17T>C
|
rs201932919
|
0.00513
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00510
|
NM_007294.4(BRCA1):c.-192T>C
|
rs113323025
|
0.00510
|
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=)
|
rs116354015
|
0.00506
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_032578.4(MYPN):c.1134C>T (p.Ile378=)
|
rs145701607
|
0.00504
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
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_003476.5(CSRP3):c.213C>T (p.Ile71=)
|
rs45476991
|
0.00499
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_000051.4(ATM):c.6348-54T>C
|
rs116924981
|
0.00493
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=)
|
rs140001300
|
0.00493
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)
|
rs56013867
|
0.00491
|
NM_000535.7(PMS2):c.2445+30A>G
|
rs549704870
|
0.00490
|
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu)
|
rs181736584
|
0.00490
|
NM_002471.4(MYH6):c.330G>A (p.Ala110=)
|
rs77679218
|
0.00490
|
NM_144670.6(A2ML1):c.3252C>T (p.His1084=)
|
rs61745125
|
0.00490
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
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_000142.5(FGFR3):c.663G>A (p.Ser221=)
|
rs114421370
|
0.00485
|
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr)
|
rs140980374
|
0.00485
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_001308093.3(GATA4):c.1150-20G>A
|
rs114345849
|
0.00483
|
NM_001378454.1(ALMS1):c.11872+18G>A
|
rs139647347
|
0.00482
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00482
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)
|
rs116302604
|
0.00481
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=)
|
rs78953918
|
0.00480
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)
|
rs12721379
|
0.00478
|
NM_016599.5(MYOZ2):c.76+19C>T
|
rs77591499
|
0.00476
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_000451.4(SHOX):c.63C>T (p.Gly21=)
|
rs142306835
|
0.00472
|
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995
|
0.00472
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_000257.4(MYH7):c.1579-17C>T
|
rs182949516
|
0.00470
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_000257.4(MYH7):c.*20G>A
|
rs45548631
|
0.00463
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys)
|
rs200842904
|
0.00462
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_001365536.1(SCN9A):c.2517+6C>T
|
rs145316463
|
0.00460
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=)
|
rs143426579
|
0.00457
|
NM_170707.4(LMNA):c.357-3717A>G
|
rs148559653
|
0.00457
|
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)
|
rs150574114
|
0.00455
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)
|
rs111033338
|
0.00452
|
NM_002471.4(MYH6):c.1989C>T (p.Asn663=)
|
rs28730774
|
0.00451
|
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr)
|
rs11711062
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
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_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_002471.4(MYH6):c.2168+17C>A
|
rs192337153
|
0.00443
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
NM_032588.4(TRIM63):c.*2G>A
|
rs77965623
|
0.00441
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)
|
rs112906840
|
0.00438
|
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)
|
rs139129844
|
0.00438
|
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)
|
rs145756111
|
0.00437
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
NM_002473.6(MYH9):c.1083C>T (p.Asp361=)
|
rs56001030
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
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_006514.4(SCN10A):c.4656G>A (p.Ala1552=)
|
rs151182542
|
0.00431
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_006073.4(TRDN):c.1721-4A>G
|
rs60743141
|
0.00430
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_000051.4(ATM):c.5762+27G>A
|
rs3218686
|
0.00428
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp)
|
rs35734447
|
0.00426
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_020433.5(JPH2):c.380-9C>G
|
rs111987307
|
0.00423
|
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=)
|
rs115814032
|
0.00420
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)
|
rs114280473
|
0.00417
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)
|
rs142027794
|
0.00415
|
NM_000249.4(MLH1):c.453+25A>G
|
rs4647246
|
0.00414
|
NM_000426.4(LAMA2):c.3556-15T>G
|
rs17741922
|
0.00414
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
NM_014630.3(ZNF592):c.3396C>T (p.Ala1132=)
|
rs143259756
|
0.00414
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
NM_002471.4(MYH6):c.4651-12A>C
|
rs193922653
|
0.00413
|
NM_000038.6(APC):c.933+30A>G
|
rs145211300
|
0.00412
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00412
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)
|
rs2230232
|
0.00406
|
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)
|
rs201012766
|
0.00405
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_001458.5(FLNC):c.1549+15C>A
|
rs181134489
|
0.00403
|
NM_001710.6(CFB):c.1408+7A>C
|
rs4151656
|
0.00403
|
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met)
|
rs141727248
|
0.00403
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe)
|
rs76014951
|
0.00391
|
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)
|
rs78915828
|
0.00390
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
NM_017636.4(TRPM4):c.870C>T (p.Asn290=)
|
rs141997826
|
0.00389
|
NM_024334.3(TMEM43):c.162+21C>T
|
rs137975239
|
0.00388
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)
|
rs28730751
|
0.00387
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)
|
rs147085074
|
0.00385
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)
|
rs41303495
|
0.00384
|
NM_001349253.2(SCN11A):c.3132C>G (p.Asn1044Lys)
|
rs35693485
|
0.00382
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001349253.2(SCN11A):c.1473+12C>T
|
rs115646260
|
0.00378
|
NM_030787.4(CFHR5):c.254-5C>T
|
rs185709089
|
0.00378
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala)
|
rs35131433
|
0.00374
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
NM_130797.4(DPP6):c.627+21101A>G
|
rs117574002
|
0.00365
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
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_000335.5(SCN5A):c.4434+13C>T
|
rs148598985
|
0.00361
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
|
rs138423466
|
0.00355
|
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=)
|
rs17215493
|
0.00354
|
NM_000431.4(MVK):c.769-7T>G
|
rs104895331
|
0.00354
|
NM_001243133.2(NLRP3):c.1389C>T (p.His463=)
|
rs111400208
|
0.00354
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)
|
rs56002719
|
0.00354
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_001101.5(ACTB):c.426G>T (p.Leu142=)
|
rs79074016
|
0.00353
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)
|
rs45548237
|
0.00350
|
NM_000702.4(ATP1A2):c.2943-15C>T
|
rs111510835
|
0.00350
|
NM_006939.4(SOS2):c.1344G>A (p.Leu448=)
|
rs35530861
|
0.00350
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)
|
rs55667289
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_004281.4(BAG3):c.606G>T (p.Pro202=)
|
rs74157690
|
0.00341
|
NM_001018005.2(TPM1):c.*76A>G
|
rs140658011
|
0.00339
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=)
|
rs34451610
|
0.00337
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_175875.5(SIX5):c.732G>A (p.Gln244=)
|
rs141944211
|
0.00335
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_000562.3(C8A):c.1331G>A (p.Arg444His)
|
rs143908758
|
0.00334
|
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)
|
rs116316039
|
0.00334
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
NM_004360.5(CDH1):c.833-16C>G
|
rs33984587
|
0.00332
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)
|
rs4647928
|
0.00328
|
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile)
|
rs117908591
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_001365276.2(TNXB):c.3445+8A>G
|
rs201624002
|
0.00326
|
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)
|
rs145292219
|
0.00326
|
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)
|
rs146059306
|
0.00325
|
NM_007129.5(ZIC2):c.213G>A (p.Pro71=)
|
rs189469383
|
0.00325
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
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_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
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_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_000051.4(ATM):c.5918+72A>G
|
rs3218694
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
NM_000539.3(RHO):c.360C>T (p.Gly120=)
|
rs79765751
|
0.00312
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00310
|
NM_004656.4(BAP1):c.1002A>G (p.Leu334=)
|
rs28997577
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
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_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
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_001177316.2(SLC34A3):c.1512C>T (p.Phe504=)
|
rs146854507
|
0.00306
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
NM_144773.4(PROKR2):c.151G>A (p.Ala51Thr)
|
rs144994507
|
0.00303
|
NM_001106.4(ACVR2B):c.811-12G>A
|
rs144849143
|
0.00302
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_001710.6(CFB):c.1778+9G>A
|
rs188688680
|
0.00301
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_000051.4(ATM):c.6007-44G>A
|
rs185700860
|
0.00300
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_006767.4(LZTR1):c.2373C>T (p.His791=)
|
rs148993324
|
0.00299
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=)
|
rs61757672
|
0.00298
|
NC_000005.10:g.177409584C>G
|
rs41309132
|
0.00297
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00297
|
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
0.00297
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_000142.5(FGFR3):c.1076-16G>A
|
rs3135889
|
0.00296
|
NM_000441.2(SLC26A4):c.601-17C>T
|
rs78330939
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_000238.4(KCNH2):c.3152+12C>A
|
rs72549420
|
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_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_024422.6(DSC2):c.1264-5C>T
|
rs183614856
|
0.00292
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)
|
rs2228563
|
0.00287
|
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_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
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_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)
|
rs35623035
|
0.00285
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
NM_000335.5(SCN5A):c.2436+12G>A
|
rs41312419
|
0.00284
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)
|
rs147423696
|
0.00282
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)
|
rs11539506
|
0.00282
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_001145026.2(PTPRQ):c.5196A>C (p.Pro1732=)
|
rs187900644
|
0.00280
|
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00278
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
NM_000258.3(MYL3):c.129+54_129+55del
|
rs544241793
|
0.00277
|
NM_000821.7(GGCX):c.189C>T (p.Ser63=)
|
rs41290035
|
0.00277
|
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His)
|
rs72803461
|
0.00277
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_000059.4(BRCA2):c.67+62T>G
|
rs11571574
|
0.00274
|
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)
|
rs150979437
|
0.00274
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
0.00274
|
NM_001145252.3(CFP):c.157G>A (p.Val53Met)
|
rs8177068
|
0.00274
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=)
|
rs56118173
|
0.00274
|
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)
|
rs17850194
|
0.00273
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)
|
rs150388417
|
0.00272
|
NM_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_001148.6(ANK2):c.1401A>G (p.Ala467=)
|
rs142159132
|
0.00269
|
NM_001308210.2(TSHZ1):c.1843G>A (p.Ala615Thr)
|
rs149729975
|
0.00269
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
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_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=)
|
rs116128106
|
0.00267
|
NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=)
|
rs144944369
|
0.00267
|
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=)
|
rs76685232
|
0.00265
|
NM_007293.3(C4A):c.3218A>G (p.Asp1073Gly)
|
rs147162052
|
0.00265
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
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_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
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_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_012464.5(TLL1):c.811+6A>G
|
rs143316816
|
0.00257
|
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)
|
rs114896457
|
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_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_198253.3(TERT):c.1812A>G (p.Ala604=)
|
rs33959226
|
0.00255
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)
|
rs139295139
|
0.00254
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001283009.2(RTEL1):c.3823-5C>G
|
rs141522376
|
0.00252
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)
|
rs76177450
|
0.00250
|
NM_020247.5(COQ8A):c.384C>T (p.Ala128=)
|
rs139970507
|
0.00250
|
NM_030787.4(CFHR5):c.732C>T (p.Asn244=)
|
rs41306229
|
0.00250
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00249
|
NM_006514.4(SCN10A):c.3229-20C>T
|
rs73825880
|
0.00248
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00247
|
NM_000505.4(F12):c.418C>G (p.Leu140Val)
|
rs35515200
|
0.00247
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_014000.3(VCL):c.2023-20A>G
|
rs143756084
|
0.00247
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)
|
rs75398993
|
0.00245
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_005918.4(MDH2):c.982A>C (p.Lys328Gln)
|
rs144919730
|
0.00242
|
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
0.00241
|
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)
|
rs17215409
|
0.00241
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_177438.3(DICER1):c.1377-4T>G
|
rs192490028
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
NM_001005242.3(PKP2):c.1171-11T>C
|
rs183414126
|
0.00239
|
NM_001035.3(RYR2):c.6441-19C>T
|
rs140440259
|
0.00239
|
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser)
|
rs71578980
|
0.00239
|
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814
|
0.00239
|
NM_002335.4(LRP5):c.4431C>T (p.His1477=)
|
rs11574426
|
0.00238
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00235
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
NM_001385012.1(NBEA):c.282G>A (p.Thr94=)
|
rs201561325
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=)
|
rs34964168
|
0.00232
|
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_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_006514.4(SCN10A):c.950+17T>C
|
rs188914048
|
0.00231
|
NM_020774.4(MIB1):c.843A>T (p.Thr281=)
|
rs137957940
|
0.00231
|
NM_005257.6(GATA6):c.1374C>T (p.Asn458=)
|
rs143026087
|
0.00230
|
NM_152381.6(XIRP2):c.1052C>T (p.Thr351Ile)
|
rs111563369
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_000092.5(COL4A4):c.4217-15T>C
|
rs200926310
|
0.00228
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_014000.3(VCL):c.1671C>T (p.Asp557=)
|
rs137877092
|
0.00228
|
NM_144573.4(NEXN):c.1659+18C>G
|
rs147422621
|
0.00228
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn)
|
rs78086631
|
0.00226
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00224
|
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)
|
rs3729799
|
0.00223
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_000091.5(COL4A3):c.987+20C>G
|
rs141425127
|
0.00222
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)
|
rs141191319
|
0.00222
|
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)
|
rs189541861
|
0.00222
|
NM_005343.4(HRAS):c.477G>A (p.Leu159=)
|
rs140060409
|
0.00222
|
NM_015335.5(MED13L):c.1283A>G (p.His428Arg)
|
rs144410580
|
0.00222
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)
|
rs146901730
|
0.00220
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)
|
rs140126678
|
0.00220
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_004281.4(BAG3):c.-17G>A
|
rs200388926
|
0.00218
|
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=)
|
rs202213014
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
0.00217
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00217
|
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)
|
rs34935550
|
0.00217
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys)
|
rs151153639
|
0.00217
|
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)
|
rs45540031
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=)
|
rs34785693
|
0.00215
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00215
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_006005.3(WFS1):c.712+16G>A
|
rs71524367
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)
|
rs141290741
|
0.00212
|
NM_000334.4(SCN4A):c.1100+7G>A
|
rs200770684
|
0.00212
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
NM_020433.5(JPH2):c.1794C>A (p.Ser598=)
|
rs369883442
|
0.00212
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)
|
rs72749169
|
0.00210
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_032588.4(TRIM63):c.597+7G>A
|
rs150672089
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NC_000007.14:g.107660756T>C
|
rs60284988
|
0.00209
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=)
|
rs112474841
|
0.00209
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)
|
rs140926982
|
0.00208
|
NM_002471.4(MYH6):c.3979-7dup
|
rs545343612
|
0.00208
|
NM_000335.5(SCN5A):c.354C>T (p.His118=)
|
rs45533640
|
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_144670.6(A2ML1):c.158C>G (p.Thr53Arg)
|
rs79149293
|
0.00207
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
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_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=)
|
rs61735044
|
0.00206
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001105206.3(LAMA4):c.924T>C (p.His308=)
|
rs143580603
|
0.00205
|
NM_001148.6(ANK2):c.2277+9C>T
|
rs141965666
|
0.00205
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_004807.3(HS6ST1):c.652C>T (p.Pro218Ser)
|
rs200268730
|
0.00202
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)
|
rs121908108
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)
|
rs572545726
|
0.00198
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
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_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)
|
rs3736229
|
0.00195
|
NM_004415.4(DSP):c.1488G>A (p.Thr496=)
|
rs35820473
|
0.00195
|
NM_015141.4(GPD1L):c.981G>A (p.Val327=)
|
rs144877595
|
0.00195
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)
|
rs1800579
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00193
|
NM_024757.5(EHMT1):c.480C>T (p.Gly160=)
|
rs150135875
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)
|
rs141944844
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000204.5(CFI):c.1443C>T (p.Val481=)
|
rs114091883
|
0.00190
|
NM_000363.5(TNNI3):c.550-10C>T
|
rs201240150
|
0.00190
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)
|
rs149571533
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
|
rs62001015
|
0.00189
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00189
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln)
|
rs143422889
|
0.00189
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=)
|
rs77249928
|
0.00189
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_005188.4(CBL):c.1359A>C (p.Pro453=)
|
rs34732429
|
0.00188
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00187
|
NM_000554.6(CRX):c.253-15G>A
|
rs145805694
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=)
|
rs372582842
|
0.00185
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu)
|
rs140402087
|
0.00185
|
NM_000146.4(FTL):c.522C>T (p.His174=)
|
rs73046709
|
0.00184
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
NM_016358.3(IRX4):c.99G>T (p.Thr33=)
|
rs61751233
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_000064.4(C3):c.3216G>T (p.Arg1072=)
|
rs137880434
|
0.00183
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_005918.4(MDH2):c.480G>A (p.Val160=)
|
rs139959689
|
0.00183
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
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_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_020859.4(SHROOM3):c.2153G>A (p.Arg718Gln)
|
rs114419726
|
0.00182
|
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)
|
rs114580597
|
0.00182
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_000540.3(RYR1):c.9555-9G>A
|
rs149569999
|
0.00180
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_001458.5(FLNC):c.561C>T (p.Asp187=)
|
rs149474376
|
0.00178
|
NM_001903.5(CTNNA1):c.1845C>T (p.Ser615=)
|
rs150965493
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
NM_000256.3(MYBPC3):c.2905+35A>G
|
rs11570107
|
0.00175
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_001710.6(CFB):c.1143C>T (p.Arg381=)
|
rs150920440
|
0.00175
|
NM_004281.4(BAG3):c.25A>G (p.Met9Val)
|
rs137965903
|
0.00175
|
NM_005751.5(AKAP9):c.5978-4A>G
|
rs147494754
|
0.00175
|
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)
|
rs3812602
|
0.00175
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile)
|
rs3734292
|
0.00174
|
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)
|
rs142096969
|
0.00174
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_015978.3(TNNI3K):c.512T>C (p.Leu171Ser)
|
rs6685961
|
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_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu)
|
rs145895389
|
0.00170
|
NM_013266.4(CTNNA3):c.580-8C>T
|
rs141983252
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000256.3(MYBPC3):c.1091-34G>A
|
rs375116758
|
0.00169
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=)
|
rs367775215
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00168
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_003647.3(DGKE):c.465-3C>T
|
rs375726408
|
0.00168
|
NM_007078.3(LDB3):c.954C>T (p.Pro318=)
|
rs45603139
|
0.00168
|
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)
|
rs140460765
|
0.00168
|
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)
|
rs202093758
|
0.00166
|
NM_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)
|
rs142094977
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_000249.4(MLH1):c.885-24T>A
|
rs201594027
|
0.00164
|
NM_173630.4(RTTN):c.2804A>G (p.His935Arg)
|
rs145832674
|
0.00164
|
NM_001037.5(SCN1B):c.448+29C>T
|
rs186759145
|
0.00163
|
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu)
|
rs140995438
|
0.00163
|
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
|
rs141215990
|
0.00163
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)
|
rs201904226
|
0.00160
|
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)
|
rs201200682
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
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_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His)
|
rs141856443
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys)
|
rs202110498
|
0.00158
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_000238.4(KCNH2):c.1129-18C>T
|
rs78794789
|
0.00156
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_032578.4(MYPN):c.1104C>T (p.Gly368=)
|
rs144764983
|
0.00154
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_001903.5(CTNNA1):c.536C>T (p.Ala179Val)
|
rs28363394
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_022114.4(PRDM16):c.201G>A (p.Pro67=)
|
rs199614349
|
0.00153
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_001349253.2(SCN11A):c.5207G>T (p.Gly1736Val)
|
rs143852849
|
0.00151
|
NM_001458.5(FLNC):c.2389+12C>T
|
rs370526829
|
0.00151
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)
|
rs146205997
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=)
|
rs143627839
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_000363.5(TNNI3):c.109-17C>A
|
rs139150276
|
0.00147
|
NM_001077415.3(CRELD1):c.1249A>G (p.Ile417Val)
|
rs115361983
|
0.00147
|
NM_001369268.1(ACAN):c.230G>A (p.Arg77His)
|
rs199701329
|
0.00147
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00147
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_000552.5(VWF):c.3789G>A (p.Ser1263=)
|
rs199831474
|
0.00146
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_002230.4(JUP):c.*21C>A
|
rs41275669
|
0.00146
|
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)
|
rs61757665
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)
|
rs150597413
|
0.00144
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)
|
rs199853370
|
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_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
NM_000064.4(C3):c.2901C>T (p.Leu967=)
|
rs34029609
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_000363.5(TNNI3):c.373-15C>G
|
rs192630178
|
0.00141
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)
|
rs77144869
|
0.00141
|
NM_004281.4(BAG3):c.549C>G (p.Ser183=)
|
rs112929734
|
0.00141
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr)
|
rs140192373
|
0.00140
|
NM_020297.4(ABCC9):c.924T>C (p.Asp308=)
|
rs139127928
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
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_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_030662.3(MAP2K2):c.*19C>T
|
rs145743390
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)
|
rs142401936
|
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_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000176.3(NR3C1):c.685G>A (p.Ala229Thr)
|
rs72542742
|
0.00134
|
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)
|
rs148121889
|
0.00134
|
NM_000258.3(MYL3):c.81T>C (p.Pro27=)
|
rs147584015
|
0.00133
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
NM_001458.5(FLNC):c.6005-9T>C
|
rs118124743
|
0.00133
|
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met)
|
rs202071400
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)
|
rs140913916
|
0.00130
|
NM_000541.5(SAG):c.31G>A (p.Glu11Lys)
|
rs200078242
|
0.00129
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001492.6(GDF1):c.55C>G (p.Leu19Val)
|
rs370986101
|
0.00129
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
0.00129
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
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_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
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_001199107.2(TBC1D24):c.-7C>T
|
rs199852092
|
0.00126
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)
|
rs112803404
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)
|
rs144018361
|
0.00124
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001386795.1(DTNA):c.604-14G>T
|
rs397517447
|
0.00123
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
NM_145046.5(CALR3):c.125A>G (p.Asn42Ser)
|
rs149634686
|
0.00123
|
NM_005120.3(MED12):c.5748+16G>T
|
rs199760183
|
0.00122
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_018105.3(THAP1):c.71+9C>A
|
rs200209986
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=)
|
rs139500905
|
0.00121
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
NM_001201550.3(CFHR4):c.983C>T (p.Thr328Ile)
|
rs200497324
|
0.00120
|
NM_015978.3(TNNI3K):c.465A>G (p.Gln155=)
|
rs45532739
|
0.00120
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
0.00117
|
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_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
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_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)
|
rs199972068
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_023110.3(FGFR1):c.449-9C>G
|
rs17182303
|
0.00115
|
NM_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00114
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_002473.6(MYH9):c.705+11C>T
|
rs201738304
|
0.00114
|
NM_004333.6(BRAF):c.1433-19A>G
|
rs369635503
|
0.00114
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
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_001377.3(DYNC2H1):c.12566+17A>G
|
rs187787132
|
0.00113
|
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)
|
rs139770404
|
0.00113
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)
|
rs34055850
|
0.00113
|
NM_152564.5(VPS13B):c.4224+549C>T
|
rs182492131
|
0.00113
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
|
rs41306784
|
0.00112
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_080680.3(COL11A2):c.1612-10G>C
|
rs182657680
|
0.00112
|
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)
|
rs150615457
|
0.00112
|
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_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=)
|
rs138670107
|
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_001458.5(FLNC):c.3000T>C (p.Asp1000=)
|
rs184454068
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_000257.4(MYH7):c.345+24G>A
|
rs146744056
|
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_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_001009944.3(PKD1):c.9924-11C>T
|
rs201154266
|
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_002471.4(MYH6):c.2430-14C>T
|
rs190342289
|
0.00108
|
NM_006767.4(LZTR1):c.1395G>A (p.Ala465=)
|
rs142418387
|
0.00108
|
NM_020774.4(MIB1):c.1963-6G>A
|
rs186680702
|
0.00108
|
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)
|
rs188054898
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000787.4(DBH):c.339+2T>C
|
rs74853476
|
0.00106
|
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)
|
rs34827377
|
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_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)
|
rs200243306
|
0.00105
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
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_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
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_020884.7(MYH7B):c.4070A>C (p.Glu1357Ala)
|
rs202122911
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_000216.4(ANOS1):c.1532C>A (p.Ser511Tyr)
|
rs142729431
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000552.5(VWF):c.4443G>T (p.Gly1481=)
|
rs144796763
|
0.00101
|
NM_006231.4(POLE):c.1360-6C>T
|
rs139836643
|
0.00101
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)
|
rs142333841
|
0.00099
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_013266.4(CTNNA3):c.844-15G>A
|
rs201089736
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser)
|
rs559890679
|
0.00097
|
NM_001254.4(CDC6):c.165C>T (p.Pro55=)
|
rs142289528
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
NM_006514.4(SCN10A):c.5295G>A (p.Ser1765=)
|
rs145313578
|
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_000091.5(COL4A3):c.222G>T (p.Pro74=)
|
rs187950806
|
0.00096
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)
|
rs200638007
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
NM_007078.3(LDB3):c.1653C>T (p.Cys551=)
|
rs45581435
|
0.00096
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)
|
rs138452803
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His)
|
rs3752579
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
NM_000038.6(APC):c.835-24A>T
|
rs200399868
|
0.00091
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_001037.5(SCN1B):c.5+7C>T
|
rs28365106
|
0.00091
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)
|
rs146022384
|
0.00091
|
NM_014000.3(VCL):c.660C>T (p.Asn220=)
|
rs56264452
|
0.00091
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00091
|
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_004281.4(BAG3):c.1503C>A (p.Val501=)
|
rs147277075
|
0.00089
|
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
|
rs139046510
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=)
|
rs193191368
|
0.00088
|
NM_201596.3(CACNB2):c.121-4T>G
|
rs74120235
|
0.00088
|
NM_000169.3(GLA):c.639+18G>A
|
rs189319122
|
0.00087
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001614.5(ACTG1):c.39C>T (p.Gly13=)
|
rs146865914
|
0.00087
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001369268.1(ACAN):c.5147G>T (p.Ser1716Ile)
|
rs79925540
|
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_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
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_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00083
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=)
|
rs368849358
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)
|
rs3746255
|
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_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_007214.5(SEC63):c.340-7T>C
|
rs1569557
|
0.00081
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala)
|
rs200618482
|
0.00080
|
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp)
|
rs200964353
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_001018005.2(TPM1):c.115-262C>T
|
rs74573041
|
0.00079
|
NM_005751.5(AKAP9):c.6508-20A>T
|
rs374874284
|
0.00079
|
NM_032043.3(BRIP1):c.2257+19A>C
|
rs77851913
|
0.00079
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_000455.5(STK11):c.*16+10G>A
|
rs587781180
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)
|
rs145102275
|
0.00077
|
NM_001458.5(FLNC):c.7990+9C>T
|
rs566679569
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_007294.4(BRCA1):c.-86C>T
|
rs143160357
|
0.00077
|
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)
|
rs200562865
|
0.00076
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
NM_000432.4(MYL2):c.36C>T (p.Gly12=)
|
rs139794370
|
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_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
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_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro)
|
rs139172299
|
0.00074
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_002667.5(PLN):c.-56C>T
|
rs189611501
|
0.00073
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr)
|
rs142872070
|
0.00073
|
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu)
|
rs143697110
|
0.00072
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
NM_206933.4(USH2A):c.14583-19G>A
|
rs55647345
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
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_144997.7(FLCN):c.959G>A (p.Arg320Gln)
|
rs143483053
|
0.00071
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln)
|
rs200546031
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_152594.3(SPRED1):c.939G>A (p.Thr313=)
|
rs140644874
|
0.00070
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)
|
rs201999986
|
0.00068
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)
|
rs200507617
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001077415.3(CRELD1):c.1194G>A (p.Ala398=)
|
rs148159930
|
0.00067
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001276345.2(TNNT2):c.98-81G>A
|
rs45576939
|
0.00067
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)
|
rs146426213
|
0.00066
|
NM_001103.4(ACTN2):c.546T>C (p.Asp182=)
|
rs34263845
|
0.00066
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)
|
rs77416370
|
0.00066
|
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser)
|
rs113997424
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_014049.5(ACAD9):c.1221A>G (p.Thr407=)
|
rs139048558
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His)
|
rs61757663
|
0.00065
|
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val)
|
rs150379637
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)
|
rs201338158
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
|
rs145448362
|
0.00065
|
NM_183357.3(ADCY5):c.517C>T (p.Leu173=)
|
rs774205173
|
0.00065
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)
|
rs143712699
|
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_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val)
|
rs148070768
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_006767.4(LZTR1):c.543G>A (p.Thr181=)
|
rs151294009
|
0.00063
|
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=)
|
rs141161490
|
0.00063
|
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=)
|
rs368750536
|
0.00063
|
NM_201596.3(CACNB2):c.209G>A (p.Arg70His)
|
rs150722502
|
0.00063
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=)
|
rs150885220
|
0.00061
|
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)
|
rs117987946
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_001368067.1(LDB3):c.780C>T (p.Asn260=)
|
rs372789789
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00061
|
NM_002335.4(LRP5):c.291C>T (p.Ala97=)
|
rs146667935
|
0.00061
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)
|
rs150016098
|
0.00061
|
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser)
|
rs201478459
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=)
|
rs147069572
|
0.00060
|
NM_001105206.3(LAMA4):c.196-15G>C
|
rs371906362
|
0.00060
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_006514.4(SCN10A):c.648A>C (p.Thr216=)
|
rs150977149
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val)
|
rs150835546
|
0.00059
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser)
|
rs150196623
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met)
|
rs200765866
|
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_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)
|
rs182330532
|
0.00058
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
NM_022114.4(PRDM16):c.38-14G>A
|
rs368409902
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_032578.4(MYPN):c.1236C>A (p.Thr412=)
|
rs151220474
|
0.00058
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro)
|
rs117747744
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
0.00056
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_032578.4(MYPN):c.1935C>T (p.Pro645=)
|
rs71535754
|
0.00056
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)
|
rs2071848
|
0.00055
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
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_006514.4(SCN10A):c.1138G>A (p.Val380Ile)
|
rs142276689
|
0.00055
|
NM_013266.4(CTNNA3):c.1929C>T (p.His643=)
|
rs147760277
|
0.00055
|
NM_016203.4(PRKAG2):c.1106+9G>C
|
rs200429988
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
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_000257.4(MYH7):c.3777C>T (p.His1259=)
|
rs149103761
|
0.00054
|
NM_001018005.2(TPM1):c.*68A>G
|
rs374459540
|
0.00054
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
|
rs200529923
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys)
|
rs146151670
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
|
rs138810908
|
0.00054
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met)
|
rs199473087
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)
|
rs192725607
|
0.00053
|
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)
|
rs377392943
|
0.00053
|
NM_000719.7(CACNA1C):c.3156+17G>A
|
rs201709484
|
0.00052
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)
|
rs151098305
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)
|
rs78950939
|
0.00051
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=)
|
rs35772073
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_014000.3(VCL):c.2521G>C (p.Asp841His)
|
rs150385900
|
0.00051
|
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
|
rs377384557
|
0.00051
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg)
|
rs199629596
|
0.00050
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)
|
rs140019543
|
0.00049
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_001148.6(ANK2):c.231G>A (p.Val77=)
|
rs149699185
|
0.00049
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_001349253.2(SCN11A):c.1843-10C>A
|
rs200533903
|
0.00049
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)
|
rs147977741
|
0.00049
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000142.5(FGFR3):c.1959+8C>T
|
rs371666188
|
0.00048
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg)
|
rs138723332
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_004281.4(BAG3):c.855G>A (p.Thr285=)
|
rs147259596
|
0.00048
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser)
|
rs139608070
|
0.00047
|
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
|
rs148546224
|
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_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
|
rs200776757
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000059.4(BRCA2):c.7976+45G>C
|
rs11571718
|
0.00046
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
NM_001110792.2(MECP2):c.855G>T (p.Gly285=)
|
rs61750245
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
NM_006888.6(CALM1):c.303C>T (p.Ile101=)
|
rs143503733
|
0.00046
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)
|
rs377507553
|
0.00046
|
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile)
|
rs148416895
|
0.00046
|
NM_022114.4(PRDM16):c.3110-4G>A
|
rs201495178
|
0.00046
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_000350.3(ABCA4):c.5196+20G>A
|
rs55715124
|
0.00045
|
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg)
|
rs137946697
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)
|
rs140929274
|
0.00045
|
NM_015922.3(NSDHL):c.1109G>A (p.Arg370Gln)
|
rs140430695
|
0.00045
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
NM_144573.4(NEXN):c.732C>A (p.Pro244=)
|
rs201171783
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
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_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)
|
rs188852505
|
0.00044
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met)
|
rs368145743
|
0.00044
|
NM_006514.4(SCN10A):c.2842G>C (p.Val948Leu)
|
rs145694222
|
0.00044
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=)
|
rs200462659
|
0.00044
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_001037.5(SCN1B):c.448+314C>A
|
rs373295182
|
0.00043
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)
|
rs200204761
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=)
|
rs375728200
|
0.00043
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_007294.4(BRCA1):c.-20+11C>T
|
rs273898672
|
0.00042
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_133379.5(TTN):c.14616C>T (p.Ser4872=)
|
rs148105798
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00041
|
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)
|
rs189991547
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000335.5(SCN5A):c.4810+23C>T
|
rs369559182
|
0.00041
|
NM_001018005.2(TPM1):c.639+21G>C
|
rs199989220
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr)
|
rs146112707
|
0.00041
|
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)
|
rs200167919
|
0.00041
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
NM_032578.4(MYPN):c.1944G>A (p.Glu648=)
|
rs151017803
|
0.00041
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000059.4(BRCA2):c.6842-20T>A
|
rs81002811
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_000142.5(FGFR3):c.252G>A (p.Ser84=)
|
rs367973461
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)
|
rs116974302
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_003235.5(TG):c.4527C>T (p.His1509=)
|
rs201216611
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr)
|
rs72969704
|
0.00038
|
NM_000238.4(KCNH2):c.1128+1865C>T
|
rs200324802
|
0.00038
|
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=)
|
rs370750044
|
0.00038
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)
|
rs121912553
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_001386125.1(OBSCN):c.20378T>C (p.Val6793Ala)
|
rs200917956
|
0.00038
|
NM_005184.4(CALM3):c.183C>T (p.Asn61=)
|
rs3729761
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_003361.4(UMOD):c.1500A>G (p.Ala500=)
|
rs200895986
|
0.00037
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_020774.4(MIB1):c.2337C>T (p.Leu779=)
|
rs146430244
|
0.00037
|
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu)
|
rs138130715
|
0.00037
|
NM_000186.4(CFH):c.3133+8G>T
|
rs142718541
|
0.00036
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_001103.4(ACTN2):c.1975-12C>T
|
rs371352710
|
0.00036
|
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)
|
rs144548535
|
0.00036
|
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
|
rs141386891
|
0.00036
|
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
|
rs150269814
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)
|
rs140651265
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
NM_020774.4(MIB1):c.736T>C (p.Leu246=)
|
rs188600853
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)
|
rs375408527
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_020778.5(ALPK3):c.4056C>T (p.His1352=)
|
rs144613098
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
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_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
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_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_020433.5(JPH2):c.783G>C (p.Ala261=)
|
rs201085317
|
0.00034
|
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=)
|
rs199499877
|
0.00034
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln)
|
rs201955990
|
0.00033
|
NM_014000.3(VCL):c.492T>G (p.Leu164=)
|
rs143702799
|
0.00033
|
NM_020433.5(JPH2):c.1107T>C (p.Ser369=)
|
rs148311735
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000335.5(SCN5A):c.858G>A (p.Ala286=)
|
rs368460145
|
0.00032
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)
|
rs200172266
|
0.00032
|
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys)
|
rs139612152
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)
|
rs200728478
|
0.00032
|
NM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro)
|
rs148031211
|
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.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)
|
rs143161930
|
0.00031
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
NM_002016.2(FLG):c.2067T>C (p.Ser689=)
|
rs138782580
|
0.00031
|
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)
|
rs138582560
|
0.00031
|
NM_002471.4(MYH6):c.4359+5A>G
|
rs193283041
|
0.00031
|
NM_002471.4(MYH6):c.4359+8A>C
|
rs188675676
|
0.00031
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)
|
rs147890616
|
0.00031
|
NM_005751.5(AKAP9):c.948A>G (p.Val316=)
|
rs767404316
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_007294.4(BRCA1):c.5193+22C>T
|
rs8176260
|
0.00031
|
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
|
rs150765660
|
0.00031
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)
|
rs201962241
|
0.00030
|
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)
|
rs144420313
|
0.00030
|
NM_000258.3(MYL3):c.482-17C>T
|
rs201289145
|
0.00030
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=)
|
rs199767579
|
0.00029
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
NM_001018005.2(TPM1):c.375-5T>C
|
rs377061868
|
0.00029
|
NM_001018005.2(TPM1):c.563+313A>G
|
rs144700226
|
0.00029
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_001267550.2(TTN):c.10608G>A (p.Gln3536=)
|
rs371651343
|
0.00029
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
NM_001458.5(FLNC):c.294G>A (p.Glu98=)
|
rs201839252
|
0.00029
|
NM_001614.5(ACTG1):c.126C>T (p.Gly42=)
|
rs11549197
|
0.00029
|
NM_002016.2(FLG):c.3321del (p.Gly1109fs)
|
rs200519781
|
0.00029
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
NM_005477.3(HCN4):c.1656C>T (p.His552=)
|
rs148142070
|
0.00029
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
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_014000.3(VCL):c.366G>A (p.Leu122=)
|
rs199562976
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_020433.5(JPH2):c.648G>A (p.Lys216=)
|
rs796219248
|
0.00029
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
NM_022114.4(PRDM16):c.885-4G>A
|
rs374365034
|
0.00029
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
NM_145046.5(CALR3):c.60C>G (p.Thr20=)
|
rs370721650
|
0.00029
|
NM_000059.4(BRCA2):c.425+33A>G
|
rs200065709
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001035.3(RYR2):c.14809-20C>T
|
rs141119268
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
NM_000179.3(MSH6):c.-18G>T
|
rs199913053
|
0.00027
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
0.00027
|
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=)
|
rs143587921
|
0.00027
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
NM_001332.4(CTNND2):c.1520A>C (p.Gln507Pro)
|
rs142843736
|
0.00027
|
NM_020774.4(MIB1):c.2676C>T (p.Asn892=)
|
rs77329509
|
0.00027
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)
|
rs200496207
|
0.00026
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)
|
rs113302393
|
0.00026
|
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)
|
rs78439745
|
0.00026
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_013266.4(CTNNA3):c.387G>A (p.Leu129=)
|
rs143943926
|
0.00026
|
NM_017617.5(NOTCH1):c.5638+19A>G
|
rs368675083
|
0.00026
|
NM_020774.4(MIB1):c.1830-18T>C
|
rs201761957
|
0.00026
|
NM_020774.4(MIB1):c.2445C>G (p.Thr815=)
|
rs150116970
|
0.00026
|
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp)
|
rs200503836
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
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_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr)
|
rs71579338
|
0.00025
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
NM_002880.4(RAF1):c.909A>C (p.Thr303=)
|
rs5746219
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys)
|
rs201977551
|
0.00025
|
NM_007078.3(LDB3):c.1971C>T (p.Cys657=)
|
rs140552419
|
0.00025
|
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=)
|
rs148846694
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.35875+8T>G
|
rs192408585
|
0.00024
|
NM_001369268.1(ACAN):c.204A>C (p.Pro68=)
|
rs372041880
|
0.00024
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00024
|
NM_002471.4(MYH6):c.2685+10C>T
|
rs202155137
|
0.00024
|
NM_002471.4(MYH6):c.4359+10G>A
|
rs368183862
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter)
|
rs371406398
|
0.00024
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=)
|
rs371930288
|
0.00024
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000722.4(CACNA2D1):c.397-6A>G
|
rs200817801
|
0.00023
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_001458.5(FLNC):c.1434C>T (p.Arg478=)
|
rs201810745
|
0.00023
|
NM_004006.3(DMD):c.7310-7A>G
|
rs373230021
|
0.00023
|
NM_006514.4(SCN10A):c.969T>C (p.Tyr323=)
|
rs143668889
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_020774.4(MIB1):c.1470C>T (p.Val490=)
|
rs141701856
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=)
|
rs369603764
|
0.00023
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=)
|
rs149106800
|
0.00022
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)
|
rs192857526
|
0.00022
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)
|
rs201827489
|
0.00022
|
NM_004415.4(DSP):c.6207C>T (p.Val2069=)
|
rs147398792
|
0.00022
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)
|
rs146965678
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000719.7(CACNA1C):c.3946-12G>A
|
rs41276706
|
0.00021
|
NM_001037.5(SCN1B):c.348G>A (p.Ser116=)
|
rs375050816
|
0.00021
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00021
|
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)
|
rs72647883
|
0.00021
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)
|
rs367824632
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_006514.4(SCN10A):c.3753C>A (p.Thr1251=)
|
rs144350950
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
NM_015978.3(TNNI3K):c.656T>C (p.Leu219Ser)
|
rs201777822
|
0.00021
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
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_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)
|
rs112170830
|
0.00020
|
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)
|
rs397516733
|
0.00020
|
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)
|
rs372740215
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_021625.5(TRPV4):c.1584+13C>T
|
rs199712027
|
0.00020
|
NM_144498.4(OSBPL2):c.598A>G (p.Ile200Val)
|
rs377525202
|
0.00020
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
NM_000038.6(APC):c.1488A>T (p.Thr496=)
|
rs9282599
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000117.3(EMD):c.445G>C (p.Asp149His)
|
rs2070818
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000722.4(CACNA2D1):c.1735-17G>A
|
rs367841992
|
0.00019
|
NM_001005273.3(CHD3):c.4826G>A (p.Arg1609Gln)
|
rs759598225
|
0.00019
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)
|
rs181067357
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)
|
rs148210834
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001354768.3(NRL):c.654del (p.Cys219fs)
|
rs761024023
|
0.00019
|
NM_002471.4(MYH6):c.2841C>T (p.Asp947=)
|
rs140305424
|
0.00019
|
NM_003673.4(TCAP):c.111-16C>G
|
rs199865814
|
0.00019
|
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_007373.4(SHOC2):c.841+12G>A
|
rs201258692
|
0.00019
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)
|
rs150266349
|
0.00019
|
NM_015141.4(GPD1L):c.459C>T (p.Asn153=)
|
rs375532052
|
0.00019
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
0.00019
|
NM_172201.2(KCNE2):c.354G>A (p.Gly118=)
|
rs187917779
|
0.00019
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
NM_000169.3(GLA):c.129C>T (p.Gly43=)
|
rs146177035
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)
|
rs143516811
|
0.00018
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_001365536.1(SCN9A):c.2344-20A>T
|
rs199905079
|
0.00018
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
NM_002230.4(JUP):c.426C>T (p.Arg142=)
|
rs142599474
|
0.00018
|
NM_005314.3(GRPR):c.242G>A (p.Ser81Asn)
|
rs147393092
|
0.00018
|
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp)
|
rs148098950
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=)
|
rs138580439
|
0.00018
|
NM_014000.3(VCL):c.81C>T (p.His27=)
|
rs200733607
|
0.00018
|
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
|
rs72552292
|
0.00018
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000169.3(GLA):c.123C>T (p.Thr41=)
|
rs137902198
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001128840.3(CACNA1D):c.2406+5G>A
|
rs193270389
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
NM_001458.5(FLNC):c.6888C>T (p.His2296=)
|
rs375259002
|
0.00017
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_004281.4(BAG3):c.96G>T (p.Pro32=)
|
rs372083121
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly)
|
rs200348997
|
0.00017
|
NC_000011.10:g.47349939G>A
|
rs561595897
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000059.4(BRCA2):c.9649-20C>T
|
rs56177715
|
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_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)
|
rs140517911
|
0.00016
|
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=)
|
rs141233353
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_001005242.3(PKP2):c.1379-2068C>T
|
rs377424658
|
0.00016
|
NM_001018005.2(TPM1):c.*37G>A
|
rs201563826
|
0.00016
|
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)
|
rs375755770
|
0.00016
|
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)
|
rs374555263
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)
|
rs202002028
|
0.00016
|
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=)
|
rs202125701
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_001943.5(DSG2):c.783T>A (p.Arg261=)
|
rs369869320
|
0.00016
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)
|
rs150565592
|
0.00016
|
NM_007214.5(SEC63):c.340-8T>C
|
rs1569556
|
0.00016
|
NM_007294.4(BRCA1):c.-61C>T
|
rs549332987
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_013266.4(CTNNA3):c.718A>G (p.Thr240Ala)
|
rs367570454
|
0.00016
|
NM_014321.4(ORC6):c.449+5G>A
|
rs572314014
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00016
|
NM_020774.4(MIB1):c.1092+3A>G
|
rs372212766
|
0.00016
|
NM_144573.4(NEXN):c.865-17A>G
|
rs201771600
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
NM_001018005.2(TPM1):c.115-316G>A
|
rs397516491
|
0.00015
|
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met)
|
rs201746408
|
0.00015
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)
|
rs397517772
|
0.00015
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)
|
rs201415443
|
0.00015
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)
|
rs199535268
|
0.00015
|
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=)
|
rs370768364
|
0.00015
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000095.3(COMP):c.951C>A (p.Asp317Glu)
|
rs200547692
|
0.00014
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
NM_000256.3(MYBPC3):c.2149-5C>T
|
rs36211722
|
0.00014
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
NM_001018005.2(TPM1):c.114+14C>T
|
rs576659891
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001103.4(ACTN2):c.615+15C>T
|
rs369293885
|
0.00014
|
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=)
|
rs150809897
|
0.00014
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)
|
rs376823283
|
0.00014
|
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=)
|
rs587780978
|
0.00014
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00014
|
NM_001267550.2(TTN):c.44282-6G>A
|
rs372166634
|
0.00014
|
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)
|
rs190058852
|
0.00014
|
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)
|
rs537071956
|
0.00014
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
NM_002474.3(MYH11):c.4293C>T (p.Asp1431=)
|
rs143588920
|
0.00014
|
NM_003238.6(TGFB2):c.347-14C>G
|
rs371982231
|
0.00014
|
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys)
|
rs200138092
|
0.00014
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr)
|
rs200199681
|
0.00014
|
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)
|
rs750198250
|
0.00014
|
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
|
rs199795381
|
0.00014
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
NM_053025.4(MYLK):c.3639G>A (p.Val1213=)
|
rs148419939
|
0.00014
|
NM_080646.2(TBX1):c.1162G>A (p.Val388Met)
|
rs375380772
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)
|
rs397516054
|
0.00013
|
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)
|
rs554560162
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)
|
rs200112094
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001145809.2(MYH14):c.2864G>A (p.Arg955Gln)
|
rs576611342
|
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.35313G>A (p.Pro11771=)
|
rs369739111
|
0.00013
|
NM_001267550.2(TTN):c.5742G>A (p.Ala1914=)
|
rs368719553
|
0.00013
|
NM_001267550.2(TTN):c.71883T>C (p.Val23961=)
|
rs368692510
|
0.00013
|
NM_001458.5(FLNC):c.600C>T (p.Pro200=)
|
rs202105410
|
0.00013
|
NM_002471.4(MYH6):c.3979-13C>A
|
rs563648655
|
0.00013
|
NM_004281.4(BAG3):c.1029C>A (p.Arg343=)
|
rs117972572
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_007078.3(LDB3):c.1956C>T (p.Asp652=)
|
rs139213290
|
0.00013
|
NM_013382.7(POMT2):c.648C>T (p.Cys216=)
|
rs147871747
|
0.00013
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=)
|
rs372910329
|
0.00013
|
NM_022114.4(PRDM16):c.884+7C>T
|
rs373228175
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000219.6(KCNE1):c.162C>T (p.Phe54=)
|
rs17173508
|
0.00012
|
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=)
|
rs377292092
|
0.00012
|
NM_000257.4(MYH7):c.4953+17G>A
|
rs376604168
|
0.00012
|
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105
|
0.00012
|
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=)
|
rs145089607
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00012
|
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)
|
rs118079537
|
0.00012
|
NM_001349253.2(SCN11A):c.2433C>G (p.Leu811=)
|
rs377615513
|
0.00012
|
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser)
|
rs201336927
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
NM_005559.4(LAMA1):c.858+1G>T
|
rs141914419
|
0.00012
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_006767.4(LZTR1):c.1563C>T (p.Phe521=)
|
rs145974096
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_016599.5(MYOZ2):c.76+10A>G
|
rs372006344
|
0.00012
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
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_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000257.4(MYH7):c.345C>T (p.Tyr115=)
|
rs149439730
|
0.00011
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=)
|
rs148283249
|
0.00011
|
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu)
|
rs368800243
|
0.00011
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala)
|
rs376712636
|
0.00011
|
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)
|
rs150046661
|
0.00011
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=)
|
rs766728732
|
0.00011
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=)
|
rs397517514
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)
|
rs747908048
|
0.00011
|
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)
|
rs201693851
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=)
|
rs752309744
|
0.00011
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)
|
rs369466037
|
0.00011
|
NM_002230.4(JUP):c.1159-20G>A
|
rs782463183
|
0.00011
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
NM_004525.3(LRP2):c.8169C>T (p.Asn2723=)
|
rs200369596
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
NM_006017.3(PROM1):c.2490-2A>G
|
rs375813885
|
0.00011
|
NM_006790.3(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
0.00011
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp)
|
rs775759727
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)
|
rs374254884
|
0.00011
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=)
|
rs375467797
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000335.5(SCN5A):c.1338+20G>A
|
rs45626543
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=)
|
rs374481199
|
0.00010
|
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)
|
rs373709706
|
0.00010
|
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)
|
rs369896045
|
0.00010
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
NM_001267550.2(TTN):c.56051-12T>A
|
rs147192175
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001365536.1(SCN9A):c.3207C>T (p.His1069=)
|
rs200689065
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414
|
0.00010
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln)
|
rs782357172
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys)
|
rs200044616
|
0.00010
|
NM_005902.4(SMAD3):c.457C>T (p.Leu153=)
|
rs145380987
|
0.00010
|
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter)
|
rs149504103
|
0.00010
|
NM_014391.3(ANKRD1):c.750+17G>A
|
rs373898620
|
0.00010
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
NM_020774.4(MIB1):c.636+7A>C
|
rs765948951
|
0.00010
|
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)
|
rs774193816
|
0.00010
|
NM_022114.4(PRDM16):c.714C>A (p.Leu238=)
|
rs371540074
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_024666.5(AAGAB):c.1A>G (p.Met1Val)
|
rs539301011
|
0.00010
|
NM_080680.3(COL11A2):c.5071-7C>G
|
rs200548977
|
0.00010
|
NM_144498.4(OSBPL2):c.128G>T (p.Arg43Met)
|
rs143116125
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
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_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000204.5(CFI):c.192G>A (p.Pro64=)
|
rs571265769
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)
|
rs150596964
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=)
|
rs367783859
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
NM_001103.4(ACTN2):c.165C>T (p.Ala55=)
|
rs193922634
|
0.00009
|
NM_001267550.2(TTN):c.2061A>G (p.Gln687=)
|
rs188680791
|
0.00009
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)
|
rs150934088
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001458.5(FLNC):c.4914G>A (p.Lys1638=)
|
rs371385321
|
0.00009
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
NM_002294.3(LAMP2):c.42C>T (p.Leu14=)
|
rs727503122
|
0.00009
|
NM_002471.4(MYH6):c.1485C>T (p.Phe495=)
|
rs181613656
|
0.00009
|
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)
|
rs368497504
|
0.00009
|
NM_002471.4(MYH6):c.4651-3C>A
|
rs572175190
|
0.00009
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
NM_004517.4(ILK):c.466G>A (p.Gly156Ser)
|
rs199790448
|
0.00009
|
NM_006514.4(SCN10A):c.390-9G>A
|
rs370917734
|
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_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)
|
rs28897673
|
0.00009
|
NM_013266.4(CTNNA3):c.399G>A (p.Thr133=)
|
rs150376558
|
0.00009
|
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=)
|
rs145211719
|
0.00009
|
NM_020433.5(JPH2):c.1169+10C>T
|
rs372219237
|
0.00009
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_032578.4(MYPN):c.1725A>G (p.Lys575=)
|
rs143213775
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)
|
rs181520023
|
0.00009
|
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)
|
rs80356462
|
0.00009
|
NM_000038.6(APC):c.4212C>A (p.Ser1404=)
|
rs144655979
|
0.00008
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001148.6(ANK2):c.7131C>T (p.Asp2377=)
|
rs553324580
|
0.00008
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001370259.2(MEN1):c.1185+12G>A
|
rs373609932
|
0.00008
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00008
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=)
|
rs372748115
|
0.00008
|
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=)
|
rs28897692
|
0.00008
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
NM_014000.3(VCL):c.3333T>C (p.Ala1111=)
|
rs147415627
|
0.00008
|
NM_017636.4(TRPM4):c.2020-4A>C
|
rs369498574
|
0.00008
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
NM_133379.5(TTN):c.13632C>T (p.Asp4544=)
|
rs146750710
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_000038.6(APC):c.3624C>T (p.Thr1208=)
|
rs730882125
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)
|
rs745993706
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)
|
rs397515955
|
0.00007
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000458.4(HNF1B):c.*22G>A
|
rs200421746
|
0.00007
|
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=)
|
rs370145265
|
0.00007
|
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=)
|
rs765091519
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)
|
rs192232825
|
0.00007
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter)
|
rs933245871
|
0.00007
|
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg)
|
rs782315613
|
0.00007
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
NM_002230.4(JUP):c.1774-6C>T
|
rs375016135
|
0.00007
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
NM_002230.4(JUP):c.958C>T (p.Arg320Cys)
|
rs200740462
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_004415.4(DSP):c.4749C>T (p.Thr1583=)
|
rs745348231
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_005477.3(HCN4):c.3009G>A (p.Pro1003=)
|
rs775401682
|
0.00007
|
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala)
|
rs145108467
|
0.00007
|
NM_006514.4(SCN10A):c.4956G>A (p.Leu1652=)
|
rs148256707
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_032578.4(MYPN):c.660G>A (p.Arg220=)
|
rs372218308
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
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_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+7G>T
|
rs372593469
|
0.00006
|
NM_000256.3(MYBPC3):c.1224-80G>A
|
rs1025692267
|
0.00006
|
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)
|
rs377579620
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=)
|
rs61897383
|
0.00006
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)
|
rs121909835
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=)
|
rs368073321
|
0.00006
|
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr)
|
rs146250893
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter)
|
rs201203612
|
0.00006
|
NM_001018005.2(TPM1):c.27G>A (p.Gln9=)
|
rs397516365
|
0.00006
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
NM_001134363.3(RBM20):c.774G>A (p.Ser258=)
|
rs569846404
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg)
|
rs201628725
|
0.00006
|
NM_001267550.2(TTN):c.23382T>A (p.Pro7794=)
|
rs768874223
|
0.00006
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00006
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)
|
rs545377175
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)
|
rs370137092
|
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_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)
|
rs372246702
|
0.00006
|
NM_001358530.2(MOCS1):c.418+1G>A
|
rs141982812
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
NM_001943.5(DSG2):c.2241C>T (p.Thr747=)
|
rs767628208
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)
|
rs529676901
|
0.00006
|
NM_002471.4(MYH6):c.5292C>T (p.Ala1764=)
|
rs753745013
|
0.00006
|
NM_002474.3(MYH11):c.5614-7G>A
|
rs202120792
|
0.00006
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_003476.5(CSRP3):c.294G>A (p.Pro98=)
|
rs142832902
|
0.00006
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_004415.4(DSP):c.2437-20T>G
|
rs778134276
|
0.00006
|
NM_004415.4(DSP):c.561C>T (p.Val187=)
|
rs199585428
|
0.00006
|
NM_005477.3(HCN4):c.1303C>T (p.Leu435=)
|
rs746461789
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_006514.4(SCN10A):c.4515G>A (p.Thr1505=)
|
rs191624001
|
0.00006
|
NM_006514.4(SCN10A):c.4660C>T (p.Leu1554=)
|
rs745999522
|
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_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
NM_014000.3(VCL):c.2349G>A (p.Val783=)
|
rs558040780
|
0.00006
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)
|
rs147484763
|
0.00006
|
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)
|
rs369730620
|
0.00006
|
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys)
|
rs377330239
|
0.00006
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.2748+16G>A
|
rs730881873
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)
|
rs371864924
|
0.00006
|
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)
|
rs145871842
|
0.00006
|
NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)
|
rs1395940101
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_175875.5(SIX5):c.1498G>A (p.Gly500Arg)
|
rs766460655
|
0.00006
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
NM_201596.3(CACNB2):c.334-8C>T
|
rs374465425
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
NM_000117.3(EMD):c.108G>A (p.Lys36=)
|
rs1057521050
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=)
|
rs397515906
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000257.4(MYH7):c.153C>T (p.Ile51=)
|
rs373145667
|
0.00005
|
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)
|
rs756324342
|
0.00005
|
NM_000335.5(SCN5A):c.1755C>T (p.His585=)
|
rs201024847
|
0.00005
|
NM_000335.5(SCN5A):c.4590C>T (p.Asp1530=)
|
rs372507927
|
0.00005
|
NM_000455.5(STK11):c.465-18G>T
|
rs587781177
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
NM_001040151.2(SCN3B):c.570A>G (p.Ala190=)
|
rs575419664
|
0.00005
|
NM_001103.4(ACTN2):c.127-3C>A
|
rs368775036
|
0.00005
|
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=)
|
rs201179281
|
0.00005
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
NM_001148.6(ANK2):c.10032A>G (p.Pro3344=)
|
rs775667097
|
0.00005
|
NM_001148.6(ANK2):c.3136C>T (p.Leu1046=)
|
rs149840991
|
0.00005
|
NM_001148.6(ANK2):c.7320C>T (p.Ser2440=)
|
rs190590036
|
0.00005
|
NM_001267550.2(TTN):c.16622-9C>T
|
rs752362183
|
0.00005
|
NM_001267550.2(TTN):c.31227T>G (p.Val10409=)
|
rs748539440
|
0.00005
|
NM_001267550.2(TTN):c.45594A>T (p.Ala15198=)
|
rs368632402
|
0.00005
|
NM_001267550.2(TTN):c.49649-11T>C
|
rs727504474
|
0.00005
|
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His)
|
rs373169150
|
0.00005
|
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)
|
rs554231442
|
0.00005
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)
|
rs756584594
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser)
|
rs199705417
|
0.00005
|
NM_001458.5(FLNC):c.2490C>T (p.Thr830=)
|
rs777580254
|
0.00005
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
NM_005751.5(AKAP9):c.5610T>C (p.His1870=)
|
rs150332727
|
0.00005
|
NM_006516.4(SLC2A1):c.276-8G>A
|
rs373084446
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
NM_007294.4(BRCA1):c.670+16G>A
|
rs199916228
|
0.00005
|
NM_014000.3(VCL):c.528C>T (p.Asp176=)
|
rs746453891
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_152594.3(SPRED1):c.685-8T>C
|
rs760690837
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)
|
rs199648202
|
0.00004
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)
|
rs906755254
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)
|
rs371488508
|
0.00004
|
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)
|
rs371842442
|
0.00004
|
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=)
|
rs397516064
|
0.00004
|
NM_000257.4(MYH7):c.3993C>T (p.His1331=)
|
rs200288088
|
0.00004
|
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)
|
rs776282574
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=)
|
rs775789293
|
0.00004
|
NM_000335.5(SCN5A):c.954C>T (p.Asn318=)
|
rs372623225
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000419.5(ITGA2B):c.3060+2T>C
|
rs74664206
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000535.7(PMS2):c.2358G>C (p.Leu786=)
|
rs535056715
|
0.00004
|
NM_000719.7(CACNA1C):c.2664-7C>T
|
rs575664788
|
0.00004
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
NM_001037.5(SCN1B):c.448+299A>G
|
rs1027861663
|
0.00004
|
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu)
|
rs746954414
|
0.00004
|
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)
|
rs146044717
|
0.00004
|
NM_001103.4(ACTN2):c.2412C>T (p.Asn804=)
|
rs201700660
|
0.00004
|
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
|
rs374163823
|
0.00004
|
NM_001148.6(ANK2):c.1110C>T (p.His370=)
|
rs371839121
|
0.00004
|
NM_001148.6(ANK2):c.2265C>T (p.Asn755=)
|
rs765273107
|
0.00004
|
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)
|
rs767414973
|
0.00004
|
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)
|
rs369742878
|
0.00004
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
0.00004
|
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)
|
rs755262343
|
0.00004
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
NM_001267550.2(TTN):c.106858G>A (p.Glu35620Lys)
|
rs377593605
|
0.00004
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)
|
rs775289296
|
0.00004
|
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)
|
rs202022304
|
0.00004
|
NM_001267550.2(TTN):c.30538+6T>G
|
rs1363737815
|
0.00004
|
NM_001267550.2(TTN):c.39128-12T>A
|
rs779588688
|
0.00004
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
NM_001267550.2(TTN):c.98205A>C (p.Ile32735=)
|
rs745468223
|
0.00004
|
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)
|
rs4252582
|
0.00004
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
NM_001374353.1(GLI2):c.1633-4C>G
|
rs377701321
|
0.00004
|
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln)
|
rs781326398
|
0.00004
|
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)
|
rs1350329646
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_001458.5(FLNC):c.6864C>T (p.Val2288=)
|
rs761269440
|
0.00004
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
NM_001943.5(DSG2):c.1911C>T (p.Cys637=)
|
rs201654341
|
0.00004
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
NM_002471.4(MYH6):c.1381C>T (p.Leu461=)
|
rs368609214
|
0.00004
|
NM_002471.4(MYH6):c.2532C>T (p.Ser844=)
|
rs756736352
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
NM_003119.4(SPG7):c.1422C>T (p.His474=)
|
rs201482100
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
NM_007294.4(BRCA1):c.1893A>C (p.Leu631=)
|
rs80356834
|
0.00004
|
NM_007294.4(BRCA1):c.288C>T (p.Asp96=)
|
rs146085503
|
0.00004
|
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)
|
rs80357407
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)
|
rs112802909
|
0.00004
|
NM_014000.3(VCL):c.2265T>C (p.Ser755=)
|
rs147887754
|
0.00004
|
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)
|
rs72552294
|
0.00004
|
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)
|
rs201735117
|
0.00004
|
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=)
|
rs775752102
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
NM_020433.5(JPH2):c.1974C>T (p.Ala658=)
|
rs554320907
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020774.4(MIB1):c.1238-11A>T
|
rs757539398
|
0.00004
|
NM_020774.4(MIB1):c.138G>A (p.Glu46=)
|
rs376396687
|
0.00004
|
NM_022114.4(PRDM16):c.1359G>A (p.Pro453=)
|
rs749676367
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)
|
rs142968179
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
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_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_032578.4(MYPN):c.3420C>T (p.Asp1140=)
|
rs200786762
|
0.00004
|
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=)
|
rs146280945
|
0.00004
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)
|
rs28940269
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)
|
rs121917883
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
0.00003
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=)
|
rs371278843
|
0.00003
|
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=)
|
rs556762256
|
0.00003
|
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)
|
rs80359167
|
0.00003
|
NM_000059.4(BRCA2):c.9256+28T>A
|
rs779846458
|
0.00003
|
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter)
|
rs1476453955
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000085.5(CLCNKB):c.968+1G>A
|
rs201204502
|
0.00003
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val)
|
rs876661084
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)
|
rs760047145
|
0.00003
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.5070C>G (p.Ala1690=)
|
rs764844610
|
0.00003
|
NM_000257.4(MYH7):c.531C>T (p.Thr177=)
|
rs200035152
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)
|
rs574051756
|
0.00003
|
NM_000335.5(SCN5A):c.2253C>T (p.Val751=)
|
rs371649934
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000719.7(CACNA1C):c.3946-45C>G
|
rs201551454
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)
|
rs752274547
|
0.00003
|
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)
|
rs773984912
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
NM_001267550.2(TTN):c.18029-14T>C
|
rs746546928
|
0.00003
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.9423T>C (p.Phe3141=)
|
rs766671126
|
0.00003
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)
|
rs200319078
|
0.00003
|
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter)
|
rs572666403
|
0.00003
|
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)
|
rs768620276
|
0.00003
|
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)
|
rs573984029
|
0.00003
|
NM_001458.5(FLNC):c.602-16T>A
|
rs1236096502
|
0.00003
|
NM_001792.5(CDH2):c.2210-6A>G
|
rs202207758
|
0.00003
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
NM_002667.5(PLN):c.26G>A (p.Arg9His)
|
rs754782171
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys)
|
rs768737101
|
0.00003
|
NM_004281.4(BAG3):c.483G>A (p.Gln161=)
|
rs758279156
|
0.00003
|
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)
|
rs121909625
|
0.00003
|
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)
|
rs200917748
|
0.00003
|
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=)
|
rs570384292
|
0.00003
|
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs)
|
rs747321219
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=)
|
rs749374016
|
0.00003
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
NM_020297.4(ABCC9):c.1416T>C (p.Phe472=)
|
rs777308898
|
0.00003
|
NM_020433.5(JPH2):c.1170-11T>C
|
rs376052338
|
0.00003
|
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln)
|
rs202244562
|
0.00003
|
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=)
|
rs548246861
|
0.00003
|
NM_022114.4(PRDM16):c.843C>T (p.His281=)
|
rs201199516
|
0.00003
|
NM_024422.6(DSC2):c.870A>G (p.Pro290=)
|
rs142653119
|
0.00003
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_032578.4(MYPN):c.1899C>T (p.Asn633=)
|
rs147500426
|
0.00003
|
NM_133379.5(TTN):c.11928G>A (p.Thr3976=)
|
rs548317101
|
0.00003
|
NM_144670.6(A2ML1):c.1280A>G (p.Asn427Ser)
|
rs537292419
|
0.00003
|
NM_144670.6(A2ML1):c.21A>G (p.Leu7=)
|
rs529431349
|
0.00003
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.8671+18T>C
|
rs763189977
|
0.00002
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=)
|
rs768907899
|
0.00002
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=)
|
rs138067005
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
NM_000059.4(BRCA2):c.8331+16C>G
|
rs730881595
|
0.00002
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)
|
rs587782428
|
0.00002
|
NM_000085.5(CLCNKB):c.782-2A>G
|
rs779908241
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000238.4(KCNH2):c.1558-6C>T
|
rs777107971
|
0.00002
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)
|
rs547477069
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
NM_000257.4(MYH7):c.502+18G>A
|
rs912964540
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000314.8(PTEN):c.411A>G (p.Ala137=)
|
rs144545031
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_000335.5(SCN5A):c.3732G>A (p.Met1244Ile)
|
rs753677814
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=)
|
rs776884902
|
0.00002
|
NM_000722.4(CACNA2D1):c.2837-14C>G
|
rs774076778
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=)
|
rs775659068
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001103.4(ACTN2):c.762C>T (p.His254=)
|
rs397516584
|
0.00002
|
NM_001105206.3(LAMA4):c.1669-6C>G
|
rs561096787
|
0.00002
|
NM_001105206.3(LAMA4):c.2494-13T>C
|
rs576422943
|
0.00002
|
NM_001105206.3(LAMA4):c.815-13G>A
|
rs372004668
|
0.00002
|
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser)
|
rs782419414
|
0.00002
|
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
|
rs868349465
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.33657G>A (p.Pro11219=)
|
rs754038093
|
0.00002
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
NM_001267550.2(TTN):c.44472T>C (p.Asp14824=)
|
rs377441854
|
0.00002
|
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)
|
rs779336886
|
0.00002
|
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=)
|
rs199742163
|
0.00002
|
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=)
|
rs773605848
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=)
|
rs143500486
|
0.00002
|
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu)
|
rs745636376
|
0.00002
|
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)
|
rs104893613
|
0.00002
|
NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=)
|
rs546574834
|
0.00002
|
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter)
|
rs1223863177
|
0.00002
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=)
|
rs556913973
|
0.00002
|
NM_001458.5(FLNC):c.558G>A (p.Gln186=)
|
rs532206394
|
0.00002
|
NM_001943.5(DSG2):c.1914A>G (p.Gly638=)
|
rs200395484
|
0.00002
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu)
|
rs201249977
|
0.00002
|
NM_004415.4(DSP):c.1419+18A>C
|
rs772789817
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_005477.3(HCN4):c.1053C>T (p.Pro351=)
|
rs773287506
|
0.00002
|
NM_005477.3(HCN4):c.1818C>T (p.Ser606=)
|
rs1247778865
|
0.00002
|
NM_005477.3(HCN4):c.3264G>A (p.Ala1088=)
|
rs752705479
|
0.00002
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
NM_006514.4(SCN10A):c.2994C>T (p.Pro998=)
|
rs200267333
|
0.00002
|
NM_006915.3(RP2):c.949G>A (p.Glu317Lys)
|
rs782721235
|
0.00002
|
NM_007078.3(LDB3):c.246-8T>A
|
rs750671538
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val)
|
rs561988641
|
0.00002
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.5153-6C>A
|
rs80358129
|
0.00002
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=)
|
rs1046657762
|
0.00002
|
NM_014391.3(ANKRD1):c.652-8T>C
|
rs753205311
|
0.00002
|
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)
|
rs750340477
|
0.00002
|
NM_016599.5(MYOZ2):c.561-13T>A
|
rs774606671
|
0.00002
|
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val)
|
rs369433978
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His)
|
rs777442412
|
0.00002
|
NM_020433.5(JPH2):c.1497C>A (p.Pro499=)
|
rs1441785257
|
0.00002
|
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)
|
rs376694047
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_022114.4(PRDM16):c.1665C>A (p.Ala555=)
|
rs768209040
|
0.00002
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=)
|
rs773992843
|
0.00002
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
NM_178012.5(TUBB2B):c.57+4G>A
|
rs767477213
|
0.00002
|
NC_000011.10:g.47332110del
|
rs727503166
|
0.00001
|
NM_000038.6(APC):c.5805G>A (p.Gln1935=)
|
rs377040690
|
0.00001
|
NM_000038.6(APC):c.6403A>G (p.Ile2135Val)
|
rs757633174
|
0.00001
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
NM_000051.4(ATM):c.4910-16A>T
|
rs866500582
|
0.00001
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=)
|
rs113507014
|
0.00001
|
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)
|
rs756978580
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
rs398122756
|
0.00001
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=)
|
rs786201236
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.68-17A>G
|
rs1060504621
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=)
|
rs587780662
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.987G>A (p.Arg329=)
|
rs561002197
|
0.00001
|
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter)
|
rs1303215579
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
|
rs765027608
|
0.00001
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000142.5(FGFR3):c.1646-17G>A
|
rs1269493186
|
0.00001
|
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile)
|
rs529408918
|
0.00001
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
NM_000146.4(FTL):c.-168G>A
|
rs398124635
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)
|
rs574358605
|
0.00001
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000238.4(KCNH2):c.276C>T (p.Arg92=)
|
rs753629014
|
0.00001
|
NM_000238.4(KCNH2):c.2778G>A (p.Pro926=)
|
rs898987242
|
0.00001
|
NM_000238.4(KCNH2):c.473-6C>T
|
rs751673669
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val)
|
rs730880694
|
0.00001
|
NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg)
|
rs779781718
|
0.00001
|
NM_000256.3(MYBPC3):c.3490+1G>T
|
rs397516020
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000256.3(MYBPC3):c.851+11C>T
|
rs747300127
|
0.00001
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000257.4(MYH7):c.2727C>A (p.Ile909=)
|
rs377722048
|
0.00001
|
NM_000257.4(MYH7):c.3682C>T (p.Leu1228=)
|
rs560995739
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
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_000257.4(MYH7):c.896-17C>T
|
rs569428750
|
0.00001
|
NM_000258.3(MYL3):c.247C>T (p.Leu83=)
|
rs1246506798
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000276.4(OCRL):c.349+14C>T
|
rs1202964628
|
0.00001
|
NM_000277.3(PAH):c.937G>A (p.Ala313Thr)
|
rs62642912
|
0.00001
|
NM_000283.4(PDE6B):c.1920+2T>C
|
rs763996159
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000335.5(SCN5A):c.1716C>T (p.Ala572=)
|
rs796636336
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.300G>A (p.Lys100=)
|
rs2062506959
|
0.00001
|
NM_000335.5(SCN5A):c.3765C>T (p.Leu1255=)
|
rs544155617
|
0.00001
|
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)
|
rs397517957
|
0.00001
|
NM_000335.5(SCN5A):c.6003C>T (p.Ala2001=)
|
rs749546972
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)
|
rs397516348
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
0.00001
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
|
rs104895300
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)
|
rs193922799
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)
|
rs104894672
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=)
|
rs569227029
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)
|
rs774592932
|
0.00001
|
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)
|
rs587781109
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001035.3(RYR2):c.11477-20T>A
|
rs1347306061
|
0.00001
|
NM_001035.3(RYR2):c.2922T>C (p.Ser974=)
|
rs750392459
|
0.00001
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
NM_001042472.3(ABHD12):c.1075del (p.Val359fs)
|
rs757670984
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)
|
rs563500712
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)
|
rs1371567866
|
0.00001
|
NM_001134363.3(RBM20):c.2424G>T (p.Gly808=)
|
rs1221011995
|
0.00001
|
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=)
|
rs991930637
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001198800.3(ASCC1):c.626+1G>A
|
rs747595523
|
0.00001
|
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)
|
rs765965968
|
0.00001
|
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter)
|
rs976363536
|
0.00001
|
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=)
|
rs1413571023
|
0.00001
|
NM_001267550.2(TTN):c.1089G>A (p.Thr363=)
|
rs528675109
|
0.00001
|
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs)
|
rs1553940935
|
0.00001
|
NM_001267550.2(TTN):c.22629G>A (p.Pro7543=)
|
rs776917811
|
0.00001
|
NM_001267550.2(TTN):c.2493+18A>G
|
rs750885375
|
0.00001
|
NM_001267550.2(TTN):c.27237C>T (p.Phe9079=)
|
rs762681330
|
0.00001
|
NM_001267550.2(TTN):c.2880C>T (p.Val960=)
|
rs1561366469
|
0.00001
|
NM_001267550.2(TTN):c.36324G>A (p.Ser12108=)
|
rs549147739
|
0.00001
|
NM_001267550.2(TTN):c.39919G>T (p.Val13307Phe)
|
rs553280930
|
0.00001
|
NM_001267550.2(TTN):c.45310C>T (p.Leu15104Phe)
|
rs370782950
|
0.00001
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)
|
rs372618781
|
0.00001
|
NM_001267550.2(TTN):c.56461G>A (p.Val18821Ile)
|
rs1576247575
|
0.00001
|
NM_001267550.2(TTN):c.58299T>G (p.Thr19433=)
|
rs778334134
|
0.00001
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)
|
rs72646866
|
0.00001
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
NM_001267550.2(TTN):c.68484del (p.Lys22828fs)
|
rs1370805955
|
0.00001
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
NM_001267550.2(TTN):c.90799A>G (p.Thr30267Ala)
|
rs377365979
|
0.00001
|
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)
|
rs750855113
|
0.00001
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001458.5(FLNC):c.2982C>T (p.Gly994=)
|
rs947174901
|
0.00001
|
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)
|
rs376023896
|
0.00001
|
NM_001844.5(COL2A1):c.326C>G (p.Pro109Arg)
|
rs140120720
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.225G>A (p.Gly75=)
|
rs777582958
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)
|
rs762526848
|
0.00001
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002230.4(JUP):c.1925-19T>G
|
rs545000698
|
0.00001
|
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)
|
rs1340367353
|
0.00001
|
NM_002471.4(MYH6):c.252C>T (p.Phe84=)
|
rs397516757
|
0.00001
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)
|
rs121918051
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003052.5(SLC34A1):c.1006+1G>A
|
rs200095793
|
0.00001
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003673.4(TCAP):c.423C>T (p.Pro141=)
|
rs1360918794
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys)
|
rs577455773
|
0.00001
|
NM_004360.5(CDH1):c.604G>A (p.Val202Ile)
|
rs546716073
|
0.00001
|
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)
|
rs762341335
|
0.00001
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
|
rs281860303
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)
|
rs758468167
|
0.00001
|
NM_005477.3(HCN4):c.1162C>T (p.Leu388=)
|
rs1158045945
|
0.00001
|
NM_005751.5(AKAP9):c.54C>A (p.Ala18=)
|
rs770850802
|
0.00001
|
NM_005751.5(AKAP9):c.7023G>A (p.Val2341=)
|
rs1278796067
|
0.00001
|
NM_006005.3(WFS1):c.2108G>A (p.Arg703His)
|
rs1323852277
|
0.00001
|
NM_006514.4(SCN10A):c.4680T>G (p.Leu1560=)
|
rs529845623
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007294.4(BRCA1):c.135-27T>A
|
rs373363231
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=)
|
rs587782608
|
0.00001
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
NM_014000.3(VCL):c.424T>C (p.Leu142=)
|
rs762497815
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014712.3(SETD1A):c.4582-2_4582-1del
|
rs755127868
|
0.00001
|
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)
|
rs373000537
|
0.00001
|
NM_016239.4(MYO15A):c.10082+1G>A
|
rs772568482
|
0.00001
|
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)
|
rs375459945
|
0.00001
|
NM_016239.4(MYO15A):c.7893+1G>A
|
rs727503316
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)
|
rs1443735811
|
0.00001
|
NM_020433.5(JPH2):c.810C>A (p.Ala270=)
|
rs779680763
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020774.4(MIB1):c.1372-12T>A
|
rs772089721
|
0.00001
|
NM_020964.3(EPG5):c.5869+1G>A
|
rs748670315
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp)
|
rs727504455
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)
|
rs202099742
|
0.00001
|
NM_024334.3(TMEM43):c.246G>A (p.Pro82=)
|
rs376098518
|
0.00001
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
NM_024422.6(DSC2):c.1548G>T (p.Gly516=)
|
rs1465276759
|
0.00001
|
NM_024422.6(DSC2):c.627T>C (p.Phe209=)
|
rs754168300
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.2163A>C (p.Thr721=)
|
rs587781105
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_032578.4(MYPN):c.903-18A>T
|
rs775857947
|
0.00001
|
NM_033337.3(CAV3):c.165C>T (p.Asp55=)
|
rs759446749
|
0.00001
|
NM_033380.3(COL4A5):c.220C>T (p.Arg74Trp)
|
rs1052281498
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_144573.4(NEXN):c.66T>C (p.Tyr22=)
|
rs749182975
|
0.00001
|
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met)
|
rs745912214
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)
|
rs121908286
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)
|
rs769611275
|
0.00001
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936
|
0.00001
|
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)
|
rs57629361
|
0.00001
|
NM_170707.4(LMNA):c.1728C>T (p.Pro576=)
|
rs767783294
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)
|
rs753180214
|
0.00001
|
NM_178452.6(DNAAF1):c.1528+2T>C
|
rs569633512
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)
|
rs748983904
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NC_000011.10:g.47347499G>T
|
rs371941585
|
|
NC_000011.10:g.47349937del
|
rs11570050
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)
|
rs137854574
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2995C>T (p.Gln999Ter)
|
rs75239284
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000043.6(FAS):c.749G>A (p.Arg250Gln)
|
rs121913080
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)
|
rs886039592
|
|
NM_000051.4(ATM):c.6198+130G>A
|
rs55982799
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)
|
rs104894760
|
|
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)
|
rs80358437
|
|
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)
|
rs1064793402
|
|
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val)
|
rs80358489
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)
|
rs730881536
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)
|
rs730881540
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp)
|
rs1064793571
|
|
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln)
|
rs1403648108
|
|
NM_000059.4(BRCA2):c.644A>G (p.Glu215Gly)
|
rs1198988757
|
|
NM_000059.4(BRCA2):c.7007+31A>T
|
rs555236509
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr)
|
rs80359040
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000064.4(C3):c.4645C>A (p.Leu1549Met)
|
rs149202905
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
NM_000085.5(CLCNKB):c.2017-16C>T
|
rs61769892
|
|
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)
|
rs369575989
|
|
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp)
|
rs1014839148
|
|
NM_000092.5(COL4A4):c.1848del (p.Pro617fs)
|
rs2150476941
|
|
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)
|
rs2150277040
|
|
NM_000092.5(COL4A4):c.3289+1G>T
|
rs1973128133
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000094.4(COL7A1):c.7875+1G>C
|
rs2107637140
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)
|
rs1057519036
|
|
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr)
|
rs77722678
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
|
rs2039213824
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000165.5(GJA1):c.717G>A (p.Arg239=)
|
rs57946868
|
|
NM_000169.3(GLA):c.956T>C (p.Ile319Thr)
|
rs2147471929
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000190.4(HMBS):c.962G>A (p.Arg321His)
|
rs150428209
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg)
|
rs199472774
|
|
NM_000218.3(KCNQ1):c.1320C>G (p.Val440=)
|
rs781151116
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1394-13_1394-12del
|
rs550005589
|
|
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly)
|
rs199472790
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)
|
rs587781009
|
|
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000231.3(SGCG):c.196-6dup
|
rs568365779
|
|
NM_000238.4(KCNH2):c.2692+7C>G
|
rs372023163
|
|
NM_000238.4(KCNH2):c.77-5C>G
|
rs72549419
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1990-3C>G
|
rs267607882
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1661+5G>T
|
rs267607972
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
NM_000256.3(MYBPC3):c.1090+1G>A
|
rs727504269
|
|
NM_000256.3(MYBPC3):c.1224-2A>G
|
rs397515891
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)
|
rs730880695
|
|
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)
|
rs535853707
|
|
NM_000256.3(MYBPC3):c.2149-9C>A
|
rs773882783
|
|
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=)
|
rs768638405
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2737+16C>G
|
rs933155526
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)
|
rs397516053
|
|
NM_000256.3(MYBPC3):c.505+39dup
|
rs747036965
|
|
NM_000257.4(MYH7):c.1050T>C (p.Tyr350=)
|
rs2138677470
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr)
|
rs397516110
|
|
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)
|
rs201860580
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2358G>T (p.Thr786=)
|
rs36211714
|
|
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp)
|
rs1064793206
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=)
|
rs137918672
|
|
NM_000257.4(MYH7):c.4131G>A (p.Thr1377=)
|
rs369420587
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
NM_000257.4(MYH7):c.415G>T (p.Val139Leu)
|
rs2138684666
|
|
NM_000257.4(MYH7):c.495G>A (p.Met165Ile)
|
rs1555338758
|
|
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly)
|
rs755706526
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000258.3(MYL3):c.158-4del
|
rs776431941
|
|
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)
|
rs121965084
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000264.5(PTCH1):c.-24GGC[8]
|
rs71366293
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000266.4(NDP):c.112C>T (p.Arg38Cys)
|
rs758550101
|
|
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg)
|
rs2152697481
|
|
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)
|
rs869312177
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)
|
rs61755785
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1734C>A (p.Pro578=)
|
rs200868190
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs)
|
rs2125881165
|
|
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)
|
rs199473062
|
|
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu)
|
rs199473629
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys)
|
rs886039297
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp)
|
rs568792949
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.677G>A (p.Arg226His)
|
rs144310835
|
|
NM_000363.5(TNNI3):c.373-4C>T
|
rs2288530
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)
|
rs730881083
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)
|
rs397515624
|
|
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly)
|
rs780127363
|
|
NM_000426.4(LAMA2):c.9212-15C>A
|
rs55776770
|
|
NM_000431.4(MVK):c.925G>A (p.Gly309Ser)
|
rs104895305
|
|
NM_000432.4(MYL2):c.274+16_274+17insTC
|
rs200007468
|
|
NM_000432.4(MYL2):c.274+9GT[10]
|
rs142567411
|
|
NM_000432.4(MYL2):c.275-16C>G
|
rs1377138024
|
|
NM_000432.4(MYL2):c.286G>A (p.Glu96Lys)
|
rs2136770901
|
|
NM_000432.4(MYL2):c.353+51C>A
|
rs2233260
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp)
|
rs2129311246
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000451.4(SHOX):c.278-2A>G
|
rs2124165256
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr)
|
rs121964890
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000506.5(F2):c.423-7G>C
|
rs2070852
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124
|
|
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.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)
|
rs104893777
|
|
NM_000539.3(RHO):c.937-2A>C
|
rs1578281565
|
|
NM_000539.3(RHO):c.937-6T>A
|
rs543521798
|
|
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.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln)
|
rs1314923827
|
|
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro)
|
rs1969278145
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
|
NM_000552.5(VWF):c.4414G>C (p.Asp1472His)
|
rs1800383
|
|
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met)
|
rs1553244881
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=)
|
rs199538058
|
|
NM_000722.4(CACNA2D1):c.2721A>T (p.Ala907=)
|
rs758369222
|
|
NM_000722.4(CACNA2D1):c.659-18_659-17dup
|
rs370103843
|
|
NM_000722.4(CACNA2D1):c.831C>T (p.Ser277=)
|
rs144936173
|
|
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=)
|
rs35873579
|
|
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)
|
rs1057518988
|
|
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)
|
rs1587667544
|
|
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)
|
rs1587671674
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
NM_001005242.3(PKP2):c.2168-11dup
|
rs746936605
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)
|
rs968974699
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)
|
rs551162125
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln)
|
rs77955907
|
|
NM_001018005.2(TPM1):c.115-277G>A
|
rs1312883932
|
|
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)
|
rs199476305
|
|
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)
|
rs754664923
|
|
NM_001018115.3(FANCD2):c.1278+5G>T
|
rs796652647
|
|
NM_001029883.3(PCARE):c.740T>A (p.Val247Asp)
|
rs77828062
|
|
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs)
|
rs2147190470
|
|
NM_001035.3(RYR2):c.1395C>A (p.Pro465=)
|
rs111990043
|
|
NM_001035.3(RYR2):c.1477-11dup
|
rs397516518
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.310-23_310-21del
|
rs547213887
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
NM_001035.3(RYR2):c.464-8A>T
|
rs10925391
|
|
NM_001037.5(SCN1B):c.522C>A (p.Leu174=)
|
rs35478147
|
|
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser)
|
rs745774658
|
|
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
|
rs796053116
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=)
|
rs148484744
|
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.8408C>T (p.Pro2803Leu)
|
rs2151601322
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)
|
rs527236092
|
|
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)
|
rs2125194268
|
|
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter)
|
rs1559496157
|
|
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)
|
rs745902829
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)
|
rs397516577
|
|
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)
|
rs28935470
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser)
|
rs1556862958
|
|
NM_001126108.2(SLC12A3):c.1335+1G>A
|
rs757471117
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)
|
rs797044811
|
|
NM_001128228.3(TPRN):c.1402dup (p.Gln468fs)
|
rs760851760
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)
|
rs1554310600
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1430-20_1430-19del
|
rs749067157
|
|
NM_001134363.3(RBM20):c.164A>C (p.Gln55Pro)
|
rs1173440443
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
NM_001134363.3(RBM20):c.3317-20C>T
|
rs202039414
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp)
|
rs1233776328
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.2024-15dup
|
rs202085379
|
|
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del)
|
rs368946018
|
|
NM_001145358.2(SIN3A):c.3303C>G (p.Tyr1101Ter)
|
rs778623853
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
|
rs794726799
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)
|
rs1555314911
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001189.4(NKX3-2):c.190G>C (p.Gly64Arg)
|
rs202195290
|
|
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn)
|
rs1927758267
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001232.4(CASQ2):c.738-12_738-5del
|
rs56889721
|
|
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_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
|
rs762612591
|
|
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)
|
rs1349668884
|
|
NM_001256789.3(CACNA1F):c.1075G>A (p.Gly359Arg)
|
rs2147921112
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.102510G>A (p.Trp34170Ter)
|
rs1559033550
|
|
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)
|
rs794729250
|
|
NM_001267550.2(TTN):c.11311+1080del
|
rs58651353
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.23916C>T (p.Cys7972=)
|
rs2078030706
|
|
NM_001267550.2(TTN):c.30683-19del
|
rs752002029
|
|
NM_001267550.2(TTN):c.31514-4del
|
rs776720259
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)
|
rs147418835
|
|
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr)
|
rs1405466072
|
|
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs)
|
rs2154347788
|
|
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.40634-15_40634-11del
|
rs375561641
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)
|
rs376188859
|
|
NM_001267550.2(TTN):c.55452A>G (p.Lys18484=)
|
rs551509361
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
NM_001267550.2(TTN):c.58433-20A>G
|
rs893587198
|
|
NM_001267550.2(TTN):c.58920G>A (p.Arg19640=)
|
rs1021783788
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.63793+1G>A
|
rs2154182296
|
|
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=)
|
rs759355651
|
|
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter)
|
rs865930770
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.72720T>C (p.Val24240=)
|
rs550285671
|
|
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.77452G>T (p.Glu25818Ter)
|
rs748619096
|
|
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer)
|
rs2154161683
|
|
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)
|
rs794729298
|
|
NM_001267550.2(TTN):c.86742C>T (p.Ile28914=)
|
rs1702769659
|
|
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)
|
rs200503016
|
|
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.91610TTA[1] (p.Ile30538del)
|
rs754953607
|
|
NM_001267550.2(TTN):c.9381C>A (p.Tyr3127Ter)
|
rs2154341420
|
|
NM_001267550.2(TTN):c.96141G>A (p.Thr32047=)
|
rs752553035
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)
|
rs1554308513
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001292034.3(TAB2):c.899C>A (p.Ser300Ter)
|
rs2114885719
|
|
NM_001298.3(CNGA3):c.-37-1G>C
|
rs1553447991
|
|
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His)
|
rs1569420470
|
|
NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro)
|
rs2151185393
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
|
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs)
|
rs769566928
|
|
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs)
|
rs2078587931
|
|
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs)
|
rs2151378140
|
|
NM_001348716.2(KDM6B):c.3762_3764del (p.Asp1254del)
|
|
|
NM_001348716.2(KDM6B):c.4431G>A (p.Trp1477Ter)
|
rs2151379742
|
|
NM_001348716.2(KDM6B):c.4737+1G>A
|
rs2151380267
|
|
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter)
|
rs2078539742
|
|
NM_001349253.2(SCN11A):c.268-10dup
|
rs552650164
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)
|
rs1553663084
|
|
NM_001351132.2(PEX5):c.147+33A>G
|
rs1232409580
|
|
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)
|
rs2066482593
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
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_001370259.2(MEN1):c.1052A>G (p.Tyr351Cys)
|
rs2136111524
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro)
|
rs2071240
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)
|
rs1555410941
|
|
NM_001378414.1(HDAC4):c.2750+20A>C
|
rs151192501
|
|
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs)
|
rs2104063769
|
|
NM_001378454.1(ALMS1):c.10578del (p.Met3526fs)
|
rs2104104304
|
|
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)
|
rs55889738
|
|
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser)
|
rs62637035
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001384140.1(PCDH15):c.2868+2T>C
|
rs2091798175
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001429.4(EP300):c.1571C>T (p.Thr524Met)
|
rs1452596865
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001458.5(FLNC):c.-26_-9dup
|
rs749265933
|
|
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter)
|
rs769390195
|
|
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
|
NM_001458.5(FLNC):c.4812G>A (p.Pro1604=)
|
rs553400393
|
|
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)
|
rs193159707
|
|
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
|
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)
|
rs756337758
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001710.6(CFB):c.1524C>T (p.His508=)
|
rs138207668
|
|
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter)
|
rs2136571484
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001844.5(COL2A1):c.4075-1G>C
|
rs2136506437
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001845.6(COL4A1):c.808-7C>A
|
rs9588116
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)
|
rs1672165764
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
NM_001943.5(DSG2):c.523+23_523+24del
|
rs77324780
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
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.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp)
|
rs192116923
|
|
NM_002016.2(FLG):c.8187G>A (p.Gly2729=)
|
rs755915099
|
|
NM_002016.2(FLG):c.8878G>A (p.Gly2960Ser)
|
rs61690342
|
|
NM_002067.5(GNA11):c.889+8G>C
|
rs73527836
|
|
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys)
|
rs137853226
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del)
|
rs1948868228
|
|
NM_002292.4(LAMB2):c.261G>A (p.Lys87=)
|
rs149408554
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg)
|
rs80358313
|
|
NM_002448.3(MSX1):c.605G>A (p.Arg202His)
|
rs121913129
|
|
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser)
|
rs1891315952
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser)
|
rs141704264
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=)
|
rs149369904
|
|
NM_002471.4(MYH6):c.3979-11C>G
|
rs200618133
|
|
NM_002471.4(MYH6):c.3979-14C>A
|
rs372226248
|
|
NM_002471.4(MYH6):c.3979-7T>C
|
rs535111647
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-9C>A
|
rs57660219
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC
|
rs796876119
|
|
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=)
|
rs141062252
|
|
NM_002471.4(MYH6):c.427C>A (p.Arg143=)
|
rs2277473
|
|
NM_002471.4(MYH6):c.4360-7C>T
|
rs58949384
|
|
NM_002474.3(MYH11):c.530+20C>T
|
rs780914854
|
|
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)
|
rs149529195
|
|
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln)
|
rs1647932465
|
|
NM_002529.4(NTRK1):c.359+5G>T
|
rs1571685765
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002769.5(PRSS1):c.486T>C (p.Asp162=)
|
rs6666
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002860.4(ALDH18A1):c.809-1G>C
|
rs1202802893
|
|
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)
|
rs397516813
|
|
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)
|
rs1553177290
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)
|
rs267607085
|
|
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
|
rs368541637
|
|
NM_003227.4(TFR2):c.1767+7C>T
|
rs41295912
|
|
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)
|
rs1057521150
|
|
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)
|
rs1824676022
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del)
|
rs748325646
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu)
|
rs148148252
|
|
NM_004086.3(COCH):c.259G>T (p.Gly87Trp)
|
rs2138843742
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
NM_004183.4(BEST1):c.244C>G (p.Leu82Val)
|
rs281865530
|
|
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)
|
rs1805143
|
|
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)
|
rs996949678
|
|
NM_004260.4(RECQL4):c.213+6del
|
rs535285068
|
|
NM_004281.4(BAG3):c.1257dup (p.Pro420fs)
|
rs2134069115
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
NM_004360.5(CDH1):c.1320+1G>T
|
rs886039685
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
NM_004415.4(DSP):c.2437-11del
|
rs727502998
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_004415.4(DSP):c.4602A>G (p.Glu1534=)
|
rs1250795720
|
|
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)
|
rs777573018
|
|
NM_004415.4(DSP):c.81C>A (p.Arg27=)
|
rs773559423
|
|
NM_004517.4(ILK):c.458A>G (p.Glu153Gly)
|
rs867451051
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_005032.7(PLS3):c.1262+1G>A
|
rs868979288
|
|
NM_005045.4(RELN):c.5211-8_5211-7del
|
rs34125550
|
|
NM_005159.5(ACTC1):c.129+18dup
|
rs148433308
|
|
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)
|
rs727504308
|
|
NM_005159.5(ACTC1):c.809-58TG[16]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[20]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005184.4(CALM3):c.179-14del
|
rs577585466
|
|
NM_005247.4(FGF3):c.310dup (p.Arg104fs)
|
rs2119929795
|
|
NM_005585.5(SMAD6):c.120C>T (p.Gly40=)
|
rs149612008
|
|
NM_005633.4(SOS1):c.1977T>A (p.Asp659Glu)
|
rs1362181978
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly)
|
rs372568340
|
|
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs)
|
rs1563983151
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
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.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)
|
rs1553879004
|
|
NM_006005.3(WFS1):c.631+2T>G
|
rs543866098
|
|
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn)
|
rs2873479
|
|
NM_006073.4(TRDN):c.1805-21dup
|
rs11373802
|
|
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1])
|
rs148596612
|
|
NM_006073.4(TRDN):c.931+18del
|
rs201431159
|
|
NM_006079.5(CITED2):c.114CCA[1] (p.His39del)
|
rs749590293
|
|
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)
|
rs1057517908
|
|
NM_006208.3(ENPP1):c.313+9GT[21]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[22]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9del
|
rs377330284
|
|
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)
|
rs587776932
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
NM_006514.4(SCN10A):c.1667A>T (p.Gln556Leu)
|
rs1423285355
|
|
NM_006514.4(SCN10A):c.1857C>T (p.Ser619=)
|
rs374060366
|
|
NM_006514.4(SCN10A):c.5605C>T (p.Arg1869Cys)
|
rs141648641
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)
|
rs370638947
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006883.2(SHOX):c.-512C>A
|
rs113313554
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
|
|
|
NM_007078.3(LDB3):c.1232-12del
|
rs752301693
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
NM_007078.3(LDB3):c.896+6669TC[11]
|
rs71019410
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)
|
rs1745369142
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)
|
rs752018806
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.302-41T>C
|
rs8176135
|
|
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn)
|
rs757579891
|
|
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)
|
rs397509121
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.439T>C (p.Leu147=)
|
rs794727800
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007373.4(SHOC2):c.1541-7del
|
rs371544139
|
|
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
|
rs863223953
|
|
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=)
|
rs774209973
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_014000.3(VCL):c.1294C>T (p.Leu432=)
|
rs144146254
|
|
NM_014000.3(VCL):c.2529G>A (p.Pro843=)
|
rs1591714816
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014225.6(PPP2R1A):c.658G>A (p.Val220Met)
|
rs2122337413
|
|
NM_014249.4(NR2E3):c.95G>A (p.Trp32Ter)
|
rs2054172807
|
|
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)
|
rs140179068
|
|
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)
|
rs1490010141
|
|
NM_014694.4(ADAMTSL2):c.310-9G>A
|
rs147342065
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs)
|
rs1356107030
|
|
NM_015141.4(GPD1L):c.111A>C (p.Thr37=)
|
rs1459167619
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015884.4(MBTPS2):c.1499G>A (p.Gly500Asp)
|
rs2147456007
|
|
NM_015978.3(TNNI3K):c.2182-10C>T
|
rs202081102
|
|
NM_016203.4(PRKAG2):c.1679-19A>G
|
rs200262620
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_017739.4(POMGNT1):c.1429_1430del (p.Met477fs)
|
rs1657829644
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys)
|
rs2150779357
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr)
|
rs3780679
|
|
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
|
rs200244203
|
|
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)
|
rs137962226
|
|
NM_019098.5(CNGB3):c.1480+1G>A
|
rs1057516825
|
|
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)
|
rs12593
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.2644-11G>A
|
rs61926078
|
|
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)
|
rs387907228
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020297.4(ABCC9):c.4450-5dup
|
rs4148680
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020451.3(SELENON):c.1092+6C>G
|
rs148071754
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)
|
rs866242631
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr)
|
rs1790057505
|
|
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)
|
rs372189819
|
|
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)
|
rs371654192
|
|
NM_022114.4(PRDM16):c.2685C>T (p.His895=)
|
rs1303585718
|
|
NM_022114.4(PRDM16):c.574-20_574-17del
|
rs565661633
|
|
NM_022114.4(PRDM16):c.677-16_677-11dup
|
rs138423019
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
|
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu)
|
rs587784155
|
|
NM_022455.5(NSD1):c.6152-14G>A
|
rs587784182
|
|
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp)
|
rs1246231808
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
NM_024334.3(TMEM43):c.45C>G (p.Val15=)
|
rs150334659
|
|
NM_024334.3(TMEM43):c.512+19G>T
|
rs114026215
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
NM_024528.4(NKAP):c.989G>A (p.Arg330His)
|
rs1603379780
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)
|
rs141321678
|
|
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)
|
rs1064797235
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
NM_032578.4(MYPN):c.3075+5_3075+13del
|
rs864622652
|
|
NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs)
|
rs778651218
|
|
NM_053274.3(GLMN):c.844_847del (p.Leu282fs)
|
rs773060450
|
|
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)
|
rs1380822792
|
|
NM_058216.3(RAD51C):c.561_562del (p.His187fs)
|
rs1057517812
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)
|
rs146093235
|
|
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)
|
rs374515005
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_130797.4(DPP6):c.167GCG[8] (p.Gly62dup)
|
rs926747893
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_133379.5(TTN):c.11806C>A (p.Arg3936=)
|
rs147087155
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
NM_133379.5(TTN):c.15313C>A (p.Arg5105=)
|
rs376396183
|
|
NM_133379.5(TTN):c.16201T>C (p.Cys5401Arg)
|
rs2154323833
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs)
|
rs775629965
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly)
|
rs199701571
|
|
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly)
|
rs768528444
|
|
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
|
rs552219028
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152564.5(VPS13B):c.2014-2A>G
|
rs1588095580
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_170606.3(KMT2C):c.8390dup (p.Glu2798fs)
|
rs747256476
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)
|
rs267607540
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
|
rs58048078
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)
|
rs1057516085
|
|
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)
|
rs886041300
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys)
|
rs869312849
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter)
|
rs756651509
|
|
NM_182914.3(SYNE2):c.1129-6_1129-4del
|
rs34440267
|
|
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu)
|
rs149033942
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)
|
rs796065306
|
|
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)
|
rs199422298
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
|
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)
|
rs7133914
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201596.3(CACNB2):c.121-3_121-2insTGT
|
rs769211879
|
|
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=)
|
rs143060134
|
|
NM_201596.3(CACNB2):c.594-11C>T
|
rs2133073859
|
|
NM_205836.3(FBXO38):c.712G>A (p.Val238Ile)
|
rs144890577
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_212482.4(FN1):c.638G>A (p.Cys213Tyr)
|
rs1559604072
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|