NM_000054.7(AVPR2):c.26-6T>G
|
rs56689668
|
0.99968
|
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)
|
rs1552311
|
0.99751
|
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99234
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
NM_005045.4(RELN):c.8843+7G>C
|
rs2711885
|
0.98938
|
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly)
|
rs375912738
|
0.98789
|
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.98003
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
NM_007327.4(GRIN1):c.1467+8G>A
|
rs10747050
|
0.94915
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93795
|
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=)
|
rs7213318
|
0.93495
|
NM_000207.3(INS):c.187+11T>C
|
rs5506
|
0.93263
|
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_000335.5(SCN5A):c.3183A>G (p.Glu1061=)
|
rs7430407
|
0.90302
|
NM_002739.5(PRKCG):c.72C>T (p.Ala24=)
|
rs2547362
|
0.89099
|
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)
|
rs2229960
|
0.86626
|
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=)
|
rs7812015
|
0.86488
|
NM_001961.4(EEF2):c.1632T>C (p.His544=)
|
rs36526
|
0.86195
|
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)
|
rs36527
|
0.86186
|
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=)
|
rs2074641
|
0.85789
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.81072
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)
|
rs1044394
|
0.80763
|
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_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=)
|
rs1376041
|
0.79034
|
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
|
rs1044393
|
0.78554
|
NM_018136.5(ASPM):c.10331+8A>G
|
rs10754213
|
0.78251
|
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)
|
rs4915337
|
0.78235
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76852
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=)
|
rs4766309
|
0.75219
|
NM_018136.5(ASPM):c.849C>T (p.Ser283=)
|
rs6677082
|
0.74886
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.70936
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.69760
|
NM_024596.5(MCPH1):c.228G>T (p.Val76=)
|
rs2305022
|
0.69651
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)
|
rs9646771
|
0.69145
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69087
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68136
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.67903
|
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)
|
rs930557
|
0.67747
|
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482
|
0.66695
|
NM_000170.3(GLDC):c.*7G>C
|
rs2228098
|
0.66615
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_144599.5(NIPA1):c.441A>G (p.Thr147=)
|
rs11263683
|
0.65973
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65125
|
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_001278064.2(GRM1):c.3168T>G (p.Gly1056=)
|
rs6923864
|
0.64620
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)
|
rs6432901
|
0.63691
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62436
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)
|
rs3761863
|
0.61824
|
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815
|
0.61642
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
0.60091
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)
|
rs3772165
|
0.59837
|
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_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg)
|
rs2275591
|
0.58246
|
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=)
|
rs2297995
|
0.57872
|
NM_001032382.2(PQBP1):c.180-3C>T
|
rs741932
|
0.57792
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56886
|
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)
|
rs6747673
|
0.56670
|
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086
|
0.56264
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)
|
rs9373491
|
0.55222
|
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=)
|
rs17261772
|
0.54411
|
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=)
|
rs6558406
|
0.54165
|
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)
|
rs6337
|
0.53946
|
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)
|
rs4789164
|
0.52943
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52553
|
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=)
|
rs2438349
|
0.52519
|
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_005045.4(RELN):c.8046T>C (p.His2682=)
|
rs2229864
|
0.49951
|
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)
|
rs2942
|
0.49950
|
NM_005045.4(RELN):c.578-3T>C
|
rs607755
|
0.49658
|
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro)
|
rs3752895
|
0.49558
|
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)
|
rs1133779
|
0.49286
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
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_000217.3(KCNA1):c.684T>C (p.Cys228=)
|
rs1048500
|
0.47043
|
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46878
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.46763
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)
|
rs1056875
|
0.46100
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44635
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)
|
rs1805126
|
0.44288
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
NM_000545.8(HNF1A):c.51C>G (p.Leu17=)
|
rs1169289
|
0.42543
|
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)
|
rs1044397
|
0.40957
|
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
|
rs1044396
|
0.40465
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)
|
rs3207090
|
0.39516
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39210
|
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)
|
rs1806191
|
0.39095
|
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)
|
rs13402180
|
0.38234
|
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)
|
rs13414203
|
0.38227
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.37032
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.37011
|
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp)
|
rs1001238
|
0.36270
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.36127
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35993
|
NM_002739.5(PRKCG):c.567T>C (p.Asn189=)
|
rs3745406
|
0.35855
|
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val)
|
rs2042995
|
0.35566
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_198859.4(PRICKLE2):c.259-6A>G
|
rs2306380
|
0.35289
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35060
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)
|
rs843358
|
0.33258
|
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=)
|
rs3735442
|
0.32833
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_006279.5(ST3GAL3):c.209+9925A>G
|
rs37458
|
0.32581
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32026
|
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)
|
rs3747563
|
0.31969
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31936
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31913
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)
|
rs16876822
|
0.31193
|
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30449
|
NM_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.30160
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val)
|
rs7002002
|
0.29901
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=)
|
rs55646585
|
0.29352
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=)
|
rs11556200
|
0.28819
|
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)
|
rs1801265
|
0.27966
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.27177
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.27175
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27053
|
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=)
|
rs1805482
|
0.26553
|
NM_198994.3(TGM6):c.1476G>A (p.Lys492=)
|
rs2295077
|
0.26435
|
NM_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)
|
rs2259820
|
0.26141
|
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
|
rs10957393
|
0.25723
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.24782
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=)
|
rs2076413
|
0.24634
|
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
|
rs1806201
|
0.24515
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24299
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
NM_033337.3(CAV3):c.123T>C (p.Phe41=)
|
rs13087941
|
0.23875
|
NM_002303.6(LEPR):c.1029T>C (p.Ser343=)
|
rs1805134
|
0.23693
|
NM_007327.4(GRIN1):c.789A>G (p.Pro263=)
|
rs6293
|
0.23665
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
|
rs214950
|
0.23524
|
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)
|
rs5218
|
0.23002
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.22862
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.22637
|
NM_003793.4(CTSF):c.126C>T (p.Pro42=)
|
rs1044522
|
0.22541
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.22429
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
NM_000102.4(CYP17A1):c.1139+19T>G
|
rs4919686
|
0.21485
|
NM_020975.6(RET):c.135= (p.Ala45=)
|
rs1800858
|
0.21483
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21393
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)
|
rs1128396
|
0.19324
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.19089
|
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
|
rs35014209
|
0.18809
|
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=)
|
rs1063125
|
0.18737
|
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)
|
rs1801159
|
0.18640
|
NM_000383.4(AIRE):c.588C>T (p.Ser196=)
|
rs878081
|
0.18544
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.18477
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_175914.5(HNF4A):c.50-5C>T
|
rs745975
|
0.17964
|
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17770
|
NM_000383.4(AIRE):c.99T>C (p.Ala33=)
|
rs3746964
|
0.17550
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_005045.4(RELN):c.7887T>C (p.Pro2629=)
|
rs56345626
|
0.17245
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16948
|
NM_000335.5(SCN5A):c.1141-3C>A
|
rs41312433
|
0.16844
|
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=)
|
rs1805247
|
0.16667
|
NM_000207.3(INS):c.*9C>T
|
rs3842752
|
0.16663
|
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn)
|
rs13390491
|
0.16593
|
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)
|
rs12693166
|
0.16435
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.16270
|
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser)
|
rs12693164
|
0.16204
|
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)
|
rs506028
|
0.15920
|
NM_001378615.1(CC2D2A):c.124-6C>T
|
rs1861049
|
0.15686
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
NM_182961.4(SYNE1):c.17745C>T (p.His5915=)
|
rs12664753
|
0.14950
|
NM_201384.3(PLEC):c.3757-9A>G
|
rs57461687
|
0.14687
|
NM_018129.4(PNPO):c.165C>T (p.Ser55=)
|
rs11079804
|
0.14534
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
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_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14051
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)
|
rs7143196
|
0.13893
|
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser)
|
rs12140311
|
0.13867
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.13857
|
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)
|
rs16866406
|
0.13367
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=)
|
rs3798756
|
0.13297
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=)
|
rs71575926
|
0.12377
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889
|
0.12179
|
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_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.11757
|
NM_002335.4(LRP5):c.2220C>T (p.Asn740=)
|
rs2306862
|
0.11597
|
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser)
|
rs17343819
|
0.11318
|
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser)
|
rs17082236
|
0.11250
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11222
|
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=)
|
rs1009524
|
0.11189
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10965
|
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_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10674
|
NM_014141.6(CNTNAP2):c.2256-6A>T
|
rs10240482
|
0.10641
|
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
|
rs2646258
|
0.10598
|
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)
|
rs755793
|
0.10553
|
NM_000383.4(AIRE):c.1095+6G>A
|
rs1800525
|
0.10544
|
NM_024589.3(ROGDI):c.414G>A (p.Thr138=)
|
rs11553876
|
0.10521
|
NM_001370259.2(MEN1):c.1621= (p.Thr541=)
|
rs2959656
|
0.10363
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)
|
rs2295190
|
0.10318
|
NM_005045.4(RELN):c.2989C>G (p.Leu997Val)
|
rs362691
|
0.10133
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.09971
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.09838
|
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.09815
|
NM_000601.6(HGF):c.333A>G (p.Glu111=)
|
rs5745635
|
0.09752
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09748
|
NM_015192.4(PLCB1):c.1251-4T>G
|
rs2076689
|
0.09450
|
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr)
|
rs16823264
|
0.09359
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
NM_182961.4(SYNE1):c.8177+9C>T
|
rs56877632
|
0.08971
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08964
|
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg)
|
rs2792205
|
0.08782
|
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)
|
rs3818587
|
0.08745
|
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=)
|
rs79893125
|
0.08466
|
NM_014625.4(NPHS2):c.288C>T (p.Ser96=)
|
rs3738423
|
0.08404
|
NM_001909.5(CTSD):c.465T>C (p.Thr155=)
|
rs11555039
|
0.08391
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.08263
|
NM_033337.3(CAV3):c.27C>T (p.Leu9=)
|
rs1974763
|
0.08242
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=)
|
rs3026160
|
0.08178
|
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)
|
rs10408676
|
0.08167
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08157
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
rs11669576
|
0.08075
|
NM_000110.4(DPYD):c.496A>G (p.Met166Val)
|
rs2297595
|
0.08071
|
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_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=)
|
rs17160781
|
0.07808
|
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)
|
rs79980197
|
0.07777
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_003919.3(SGCE):c.391-3T>C
|
rs17166384
|
0.07675
|
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu)
|
rs58308209
|
0.07595
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_000478.6(ALPL):c.330= (p.Ser110=)
|
rs1780316
|
0.07448
|
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=)
|
rs3734365
|
0.07333
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07211
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07188
|
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864
|
0.07175
|
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=)
|
rs12272086
|
0.07159
|
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=)
|
rs28455570
|
0.07092
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.07015
|
NM_020365.5(EIF2B3):c.149-4A>G
|
rs72887005
|
0.06955
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06950
|
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=)
|
rs61739588
|
0.06946
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06824
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06809
|
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)
|
rs3737821
|
0.06797
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)
|
rs12483377
|
0.06693
|
NM_182961.4(SYNE1):c.3306C>T (p.His1102=)
|
rs17082701
|
0.06632
|
NM_001368067.1(LDB3):c.504T>C (p.Asp168=)
|
rs76615432
|
0.06598
|
NM_001365536.1(SCN9A):c.3802-4A>G
|
rs75230218
|
0.06537
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06522
|
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)
|
rs35281128
|
0.06502
|
NM_002206.3(ITGA7):c.415-10C>T
|
rs11171661
|
0.06475
|
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)
|
rs149207258
|
0.06434
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06364
|
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)
|
rs17851770
|
0.06310
|
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=)
|
rs639938
|
0.06302
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06284
|
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
0.06258
|
NM_005045.4(RELN):c.6702T>C (p.Cys2234=)
|
rs2075043
|
0.06249
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser)
|
rs61742642
|
0.06142
|
NM_001909.5(CTSD):c.231C>T (p.Ala77=)
|
rs2230067
|
0.06127
|
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
|
rs57611801
|
0.06070
|
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)
|
rs11175964
|
0.06033
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06023
|
NM_018943.3(TUBA8):c.1057-7C>T
|
rs2234338
|
0.05923
|
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val)
|
rs17082709
|
0.05898
|
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
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_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819
|
0.05741
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=)
|
rs58757394
|
0.05710
|
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile)
|
rs41303733
|
0.05665
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
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_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.05468
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05415
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05414
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=)
|
rs35139934
|
0.05241
|
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp)
|
rs13337123
|
0.05219
|
NM_201525.4(ADGRG1):c.1286+6G>A
|
rs74326170
|
0.05188
|
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)
|
rs58889246
|
0.05156
|
NM_004646.4(NPHS1):c.3595-9G>T
|
rs77309273
|
0.05118
|
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=)
|
rs58905396
|
0.05078
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05037
|
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=)
|
rs623022
|
0.05027
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.05027
|
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=)
|
rs17117883
|
0.05018
|
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)
|
rs35908728
|
0.04973
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)
|
rs17409162
|
0.04825
|
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg)
|
rs13333553
|
0.04733
|
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)
|
rs3742885
|
0.04730
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_000023.4(SGCA):c.37+23G>A
|
rs79410682
|
0.04607
|
NM_001244008.2(KIF1A):c.4319-8C>T
|
rs1529663
|
0.04602
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg)
|
rs7729495
|
0.04586
|
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)
|
rs3742884
|
0.04583
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)
|
rs45442103
|
0.04497
|
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133
|
0.04462
|
NM_006279.5(ST3GAL3):c.892-9G>A
|
rs80055718
|
0.04438
|
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)
|
rs33950747
|
0.04436
|
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)
|
rs6910140
|
0.04394
|
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met)
|
rs113831133
|
0.04384
|
NM_003283.6(TNNT1):c.33-8G>A
|
rs76630067
|
0.04332
|
NM_005677.4(COLQ):c.366+7A>G
|
rs750387
|
0.04329
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04317
|
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205
|
0.04289
|
NM_015192.4(PLCB1):c.99+8T>C
|
rs6086350
|
0.04263
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04192
|
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_025243.4(SLC19A3):c.435C>T (p.Ser145=)
|
rs76517176
|
0.04166
|
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=)
|
rs74693100
|
0.04158
|
NM_207346.3(TSEN54):c.568G>A (p.Val190Met)
|
rs79508780
|
0.04141
|
NM_000334.4(SCN4A):c.366C>T (p.Arg122=)
|
rs41280108
|
0.04121
|
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=)
|
rs8007874
|
0.04106
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04097
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04090
|
NM_002775.5(HTRA1):c.753C>T (p.Ile251=)
|
rs17624021
|
0.04081
|
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)
|
rs1139406
|
0.04077
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr)
|
rs746748
|
0.04054
|
NM_000335.5(SCN5A):c.2788-6C>T
|
rs41260344
|
0.04041
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04030
|
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)
|
rs1801160
|
0.03993
|
NM_000080.4(CHRNE):c.519C>T (p.Ala173=)
|
rs33970119
|
0.03958
|
NM_004977.3(KCNC3):c.123G>T (p.Gln41His)
|
rs185017345
|
0.03953
|
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)
|
rs112787369
|
0.03942
|
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)
|
rs16892095
|
0.03933
|
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg)
|
rs35507522
|
0.03926
|
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=)
|
rs11158524
|
0.03853
|
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=)
|
rs73626656
|
0.03822
|
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)
|
rs16947296
|
0.03818
|
NM_194248.3(OTOF):c.2703G>A (p.Ser901=)
|
rs4997760
|
0.03814
|
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=)
|
rs17062686
|
0.03808
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_005045.4(RELN):c.8508C>T (p.Phe2836=)
|
rs2229862
|
0.03751
|
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_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu)
|
rs34625768
|
0.03696
|
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly)
|
rs7157465
|
0.03696
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03694
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03680
|
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)
|
rs148871409
|
0.03666
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=)
|
rs2286128
|
0.03626
|
NM_152564.5(VPS13B):c.3667-7C>T
|
rs35543295
|
0.03607
|
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu)
|
rs115116507
|
0.03600
|
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)
|
rs61744930
|
0.03600
|
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)
|
rs62000408
|
0.03559
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202
|
0.03553
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=)
|
rs35092519
|
0.03534
|
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03519
|
NM_194248.3(OTOF):c.509+10A>G
|
rs76712142
|
0.03505
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03502
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030
|
0.03470
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974
|
0.03455
|
NM_001953.5(TYMP):c.831G>A (p.Leu277=)
|
rs8141558
|
0.03453
|
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=)
|
rs9926309
|
0.03447
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)
|
rs76793093
|
0.03409
|
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)
|
rs17104689
|
0.03409
|
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=)
|
rs7844645
|
0.03400
|
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=)
|
rs35085679
|
0.03400
|
NM_001851.6(COL9A1):c.1066-3T>C
|
rs16868869
|
0.03394
|
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
0.03367
|
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His)
|
rs2230693
|
0.03336
|
NM_002739.5(PRKCG):c.285C>T (p.Asp95=)
|
rs17854523
|
0.03329
|
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=)
|
rs8055909
|
0.03323
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_001101.5(ACTB):c.942G>A (p.Gln314=)
|
rs11546939
|
0.03304
|
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala)
|
rs17766354
|
0.03286
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu)
|
rs57259697
|
0.03281
|
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=)
|
rs17101525
|
0.03277
|
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_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03255
|
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)
|
rs61735627
|
0.03239
|
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=)
|
rs17624033
|
0.03213
|
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=)
|
rs34315573
|
0.03193
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.03192
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03177
|
NM_013296.5(GPSM2):c.753A>G (p.Ala251=)
|
rs12069435
|
0.03167
|
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=)
|
rs522776
|
0.03161
|
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=)
|
rs3763073
|
0.03149
|
NM_000334.4(SCN4A):c.4288+10G>T
|
rs114059193
|
0.03137
|
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met)
|
rs35089879
|
0.03137
|
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln)
|
rs35203186
|
0.03124
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03103
|
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)
|
rs34373049
|
0.03090
|
NM_013296.5(GPSM2):c.278+5T>C
|
rs9727773
|
0.03074
|
NM_015404.4(WHRN):c.1515G>A (p.Ala505=)
|
rs34252199
|
0.03063
|
NM_000447.3(PSEN2):c.708T>C (p.Ser236=)
|
rs61730652
|
0.03044
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03006
|
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=)
|
rs73992419
|
0.02985
|
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)
|
rs2307431
|
0.02985
|
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg)
|
rs41311333
|
0.02974
|
NM_198576.4(AGRN):c.261C>T (p.Asp87=)
|
rs6657048
|
0.02966
|
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=)
|
rs7595725
|
0.02952
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179
|
0.02937
|
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr)
|
rs17508082
|
0.02936
|
NM_000196.4(HSD11B2):c.534G>A (p.Glu178=)
|
rs45483293
|
0.02897
|
NM_194248.3(OTOF):c.2022C>T (p.Asp674=)
|
rs13004993
|
0.02894
|
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)
|
rs8177536
|
0.02889
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02886
|
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln)
|
rs28369051
|
0.02881
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=)
|
rs16960961
|
0.02872
|
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_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123
|
0.02836
|
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys)
|
rs2130262
|
0.02821
|
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)
|
rs17379472
|
0.02806
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)
|
rs73973133
|
0.02781
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02746
|
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)
|
rs36092870
|
0.02734
|
NM_194248.3(OTOF):c.1926C>T (p.Asn642=)
|
rs72853741
|
0.02727
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
NM_007078.3(LDB3):c.1074C>T (p.Ala358=)
|
rs45459491
|
0.02721
|
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg)
|
rs79399438
|
0.02714
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)
|
rs59035258
|
0.02701
|
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=)
|
rs60344647
|
0.02693
|
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_020822.3(KCNT1):c.978A>G (p.Pro326=)
|
rs61739517
|
0.02678
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02669
|
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)
|
rs7561625
|
0.02665
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02663
|
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02617
|
NM_000360.4(TH):c.1401C>T (p.Asp467=)
|
rs3842724
|
0.02616
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_015346.4(ZFYVE26):c.2332+7del
|
rs145183291
|
0.02598
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02597
|
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=)
|
rs74123254
|
0.02590
|
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr)
|
rs61729471
|
0.02583
|
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02566
|
NM_021625.5(TRPV4):c.2459-9T>G
|
rs115373018
|
0.02566
|
NM_013296.5(GPSM2):c.828A>G (p.Lys276=)
|
rs338489
|
0.02561
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)
|
rs61749020
|
0.02545
|
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)
|
rs36121515
|
0.02529
|
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu)
|
rs114447350
|
0.02512
|
NM_182961.4(SYNE1):c.26002-4A>G
|
rs77220999
|
0.02512
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=)
|
rs117054456
|
0.02486
|
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=)
|
rs41298757
|
0.02484
|
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=)
|
rs36044575
|
0.02480
|
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)
|
rs61734789
|
0.02478
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02472
|
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro)
|
rs80132640
|
0.02449
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
NM_000069.3(CACNA1S):c.2063+7G>T
|
rs79984703
|
0.02430
|
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu)
|
rs2071126
|
0.02429
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02419
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_000540.3(RYR1):c.1577-6C>G
|
rs61586345
|
0.02394
|
NM_021625.5(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967
|
0.02388
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183
|
0.02384
|
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)
|
rs36024592
|
0.02382
|
NM_001852.4(COL9A2):c.364-8C>T
|
rs11207843
|
0.02379
|
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=)
|
rs78871677
|
0.02377
|
NM_005677.4(COLQ):c.1248C>T (p.Asp416=)
|
rs55866379
|
0.02369
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)
|
rs73175207
|
0.02358
|
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met)
|
rs34725742
|
0.02357
|
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val)
|
rs61731662
|
0.02356
|
NM_005045.4(RELN):c.7110T>C (p.Val2370=)
|
rs362746
|
0.02354
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02350
|
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=)
|
rs74327115
|
0.02341
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02340
|
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg)
|
rs75989452
|
0.02333
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_001122659.3(EDNRB):c.*1767C>T
|
rs3027092
|
0.02325
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02317
|
NM_005592.4(MUSK):c.225C>T (p.Tyr75=)
|
rs56130155
|
0.02312
|
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr)
|
rs61747118
|
0.02309
|
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=)
|
rs117560775
|
0.02306
|
NM_000069.3(CACNA1S):c.2748C>T (p.His916=)
|
rs2297902
|
0.02302
|
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met)
|
rs35471427
|
0.02295
|
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys)
|
rs36021513
|
0.02290
|
NM_000334.4(SCN4A):c.3720+10A>G
|
rs111679484
|
0.02281
|
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=)
|
rs16869039
|
0.02278
|
NM_014874.4(MFN2):c.159C>T (p.Ser53=)
|
rs61733200
|
0.02240
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
NM_001843.4(CNTN1):c.401-9C>T
|
rs57340925
|
0.02228
|
NM_022124.6(CDH23):c.1134+13A>G
|
rs7903502
|
0.02225
|
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)
|
rs61753944
|
0.02215
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02213
|
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)
|
rs2228565
|
0.02212
|
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln)
|
rs74401238
|
0.02210
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)
|
rs34954751
|
0.02208
|
NM_006261.5(PROP1):c.174G>A (p.Pro58=)
|
rs2233784
|
0.02188
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
NM_015340.4(LARS2):c.972C>A (p.His324Gln)
|
rs71645922
|
0.02186
|
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His)
|
rs117501809
|
0.02182
|
NM_182914.3(SYNE2):c.8422C>T (p.Leu2808=)
|
rs35960129
|
0.02175
|
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664
|
0.02172
|
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=)
|
rs3218719
|
0.02170
|
NM_030665.4(RAI1):c.264G>A (p.Gln88=)
|
rs61999281
|
0.02170
|
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=)
|
rs61731564
|
0.02161
|
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys)
|
rs34610829
|
0.02158
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02155
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=)
|
rs34491089
|
0.02153
|
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=)
|
rs9443199
|
0.02151
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02144
|
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_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02143
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02142
|
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=)
|
rs138705766
|
0.02134
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02127
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=)
|
rs2241683
|
0.02108
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
NM_133433.4(NIPBL):c.4561-9T>A
|
rs79924167
|
0.02103
|
NM_000144.5(FXN):c.-7G>A
|
rs145006100
|
0.02101
|
NM_003289.4(TPM2):c.773-4_773-3insA
|
rs1554658501
|
0.02101
|
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
|
rs2274516
|
0.02095
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02090
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02084
|
NM_000260.4(MYO7A):c.288G>A (p.Thr96=)
|
rs56023295
|
0.02082
|
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)
|
rs2303831
|
0.02082
|
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)
|
rs17154347
|
0.02079
|
NM_002206.3(ITGA7):c.2433-5G>A
|
rs79745402
|
0.02069
|
NM_000334.4(SCN4A):c.2989+5G>A
|
rs115695396
|
0.02066
|
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)
|
rs6739001
|
0.02064
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_025114.4(CEP290):c.251-10A>T
|
rs190383141
|
0.02052
|
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)
|
rs41281316
|
0.02047
|
NM_182914.3(SYNE2):c.11385G>A (p.Lys3795=)
|
rs34954189
|
0.02047
|
NM_018129.4(PNPO):c.486C>G (p.Pro162=)
|
rs35974730
|
0.02044
|
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=)
|
rs61745228
|
0.02041
|
NM_000080.4(CHRNE):c.45C>T (p.Leu15=)
|
rs34563587
|
0.02026
|
NM_000163.5(GHR):c.1473C>T (p.Ser491=)
|
rs6176
|
0.02017
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.02014
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.02011
|
NM_018451.5(CPAP):c.187G>C (p.Asp63His)
|
rs7336216
|
0.02010
|
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)
|
rs11910483
|
0.02006
|
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)
|
rs35732838
|
0.01999
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
NM_001267550.2(TTN):c.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_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.01984
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.01980
|
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr)
|
rs34963131
|
0.01980
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
NM_001845.6(COL4A1):c.1084+5C>G
|
rs74508743
|
0.01977
|
NM_182914.3(SYNE2):c.17556+4T>C
|
rs2297301
|
0.01974
|
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)
|
rs75191159
|
0.01965
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)
|
rs200021871
|
0.01963
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.01962
|
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp)
|
rs2032892
|
0.01962
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129
|
0.01960
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.01957
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=)
|
rs34941871
|
0.01949
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.01946
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01940
|
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)
|
rs61752769
|
0.01939
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01935
|
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr)
|
rs73507527
|
0.01935
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser)
|
rs9672065
|
0.01930
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01912
|
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)
|
rs111033231
|
0.01911
|
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=)
|
rs72851170
|
0.01908
|
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=)
|
rs114328138
|
0.01906
|
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met)
|
rs2460169
|
0.01906
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
NM_018075.5(ANO10):c.788G>A (p.Arg263His)
|
rs41289586
|
0.01896
|
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)
|
rs34934127
|
0.01891
|
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)
|
rs61745498
|
0.01883
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_153766.3(KCNJ1):c.45G>A (p.Gly15=)
|
rs75088315
|
0.01875
|
NM_002303.6(LEPR):c.2597+15G>C
|
rs6693573
|
0.01870
|
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=)
|
rs4018162
|
0.01868
|
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=)
|
rs56157640
|
0.01867
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01859
|
NM_001134407.3(GRIN2A):c.1329-8C>T
|
rs7193290
|
0.01855
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)
|
rs75519005
|
0.01848
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01847
|
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)
|
rs2229792
|
0.01847
|
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=)
|
rs2303298
|
0.01844
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01842
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01840
|
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met)
|
rs116788687
|
0.01837
|
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His)
|
rs17101661
|
0.01834
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01828
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01826
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01825
|
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)
|
rs78599355
|
0.01806
|
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro)
|
rs34320609
|
0.01801
|
NM_000026.4(ADSL):c.358-4G>A
|
rs113199851
|
0.01800
|
NM_001379180.1(ESRRB):c.204G>C (p.Leu68=)
|
rs61744548
|
0.01800
|
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met)
|
rs11766611
|
0.01795
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_002303.6(LEPR):c.1285+20G>A
|
rs13306522
|
0.01792
|
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)
|
rs35663732
|
0.01790
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
NM_173660.5(DOK7):c.-6C>G
|
rs191800156
|
0.01785
|
NM_005198.5(CHKB):c.216C>T (p.Tyr72=)
|
rs80067609
|
0.01782
|
NM_000079.4(CHRNA1):c.540+4G>C
|
rs112674580
|
0.01772
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=)
|
rs34255276
|
0.01761
|
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=)
|
rs61998209
|
0.01757
|
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)
|
rs5739
|
0.01751
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01746
|
NM_022124.6(CDH23):c.2958G>A (p.Leu986=)
|
rs74702249
|
0.01745
|
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala)
|
rs45491898
|
0.01744
|
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr)
|
rs17058153
|
0.01743
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01739
|
NM_000083.3(CLCN1):c.2284+5C>T
|
rs74824159
|
0.01735
|
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=)
|
rs36031537
|
0.01733
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01726
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
NM_000815.5(GABRD):c.659G>A (p.Arg220His)
|
rs41307846
|
0.01721
|
NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)
|
rs61997203
|
0.01716
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg)
|
rs150359724
|
0.01713
|
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)
|
rs111305262
|
0.01710
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01709
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01707
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01694
|
NM_001267550.2(TTN):c.37202-4T>C
|
rs202032281
|
0.01693
|
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=)
|
rs2230300
|
0.01692
|
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=)
|
rs34723936
|
0.01692
|
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)
|
rs112332573
|
0.01692
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_001852.4(COL9A2):c.955-4C>G
|
rs118135975
|
0.01678
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=)
|
rs35648297
|
0.01677
|
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)
|
rs2229815
|
0.01659
|
NM_000142.5(FGFR3):c.1075+5C>T
|
rs3135885
|
0.01659
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01659
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01652
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01651
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01643
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01643
|
NM_001256545.2(MEGF10):c.984C>T (p.Asn328=)
|
rs35550094
|
0.01638
|
NM_007327.4(GRIN1):c.2241G>C (p.Val747=)
|
rs116354349
|
0.01638
|
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=)
|
rs79570612
|
0.01637
|
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=)
|
rs62641755
|
0.01627
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)
|
rs34236495
|
0.01622
|
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=)
|
rs115393178
|
0.01622
|
NM_000144.5(FXN):c.226A>G (p.Met76Val)
|
rs59907886
|
0.01619
|
NM_006790.3(MYOT):c.780G>A (p.Ser260=)
|
rs116773838
|
0.01617
|
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)
|
rs35984374
|
0.01615
|
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile)
|
rs34773557
|
0.01615
|
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=)
|
rs34835657
|
0.01612
|
NM_015346.4(ZFYVE26):c.6987-3C>T
|
rs76728509
|
0.01610
|
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His)
|
rs35532855
|
0.01604
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01596
|
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
0.01593
|
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=)
|
rs142518033
|
0.01592
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
0.01589
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01586
|
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)
|
rs11549840
|
0.01586
|
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)
|
rs2922828
|
0.01586
|
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser)
|
rs61740776
|
0.01584
|
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)
|
rs34934920
|
0.01583
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)
|
rs117666541
|
0.01579
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01576
|
NM_198904.4(GABRG2):c.354G>A (p.Ala118=)
|
rs61735412
|
0.01575
|
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=)
|
rs115019873
|
0.01570
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)
|
rs112197217
|
0.01566
|
NM_001614.5(ACTG1):c.729C>T (p.Pro243=)
|
rs2230159
|
0.01563
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_005912.3(MC4R):c.307G>A (p.Val103Ile)
|
rs2229616
|
0.01559
|
NM_198578.4(LRRK2):c.1182-4A>G
|
rs7135747
|
0.01555
|
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)
|
rs12115566
|
0.01554
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01553
|
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_001458.5(FLNC):c.8118C>T (p.Leu2706=)
|
rs28379666
|
0.01548
|
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)
|
rs34080459
|
0.01546
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)
|
rs114887570
|
0.01539
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01539
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01532
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01532
|
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=)
|
rs28657061
|
0.01532
|
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)
|
rs55793208
|
0.01529
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_001080476.3(GRXCR1):c.777C>T (p.Ser259=)
|
rs61733348
|
0.01525
|
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=)
|
rs6413506
|
0.01523
|
NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=)
|
rs34852231
|
0.01523
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)
|
rs17082422
|
0.01518
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01516
|
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala)
|
rs79572771
|
0.01514
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=)
|
rs78426988
|
0.01512
|
NM_023110.3(FGFR1):c.2187-6C>T
|
rs4647904
|
0.01503
|
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=)
|
rs41298498
|
0.01502
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01497
|
NM_182961.4(SYNE1):c.19989T>C (p.His6663=)
|
rs61746395
|
0.01497
|
NM_004960.4(FUS):c.1156C>A (p.Arg386=)
|
rs61733965
|
0.01496
|
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)
|
rs143663847
|
0.01495
|
NM_004960.4(FUS):c.524-5C>T
|
rs73530287
|
0.01495
|
NM_001267550.2(TTN):c.2781A>C (p.Thr927=)
|
rs55892860
|
0.01493
|
NM_152564.5(VPS13B):c.9330+10T>A
|
rs75904081
|
0.01493
|
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=)
|
rs142539117
|
0.01490
|
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=)
|
rs146575027
|
0.01487
|
NM_015192.4(PLCB1):c.924A>G (p.Ser308=)
|
rs6056003
|
0.01487
|
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
|
rs12478318
|
0.01480
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01473
|
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln)
|
rs3135103
|
0.01472
|
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
|
rs2229291
|
0.01469
|
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273
|
0.01468
|
NM_001370298.3(FGD4):c.1954-8T>C
|
rs115061722
|
0.01466
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01464
|
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)
|
rs77121899
|
0.01460
|
NM_006415.4(SPTLC1):c.1255-7C>T
|
rs7863487
|
0.01454
|
NM_000349.3(STAR):c.153G>A (p.Gln51=)
|
rs72552290
|
0.01453
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01453
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01452
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)
|
rs75826658
|
0.01449
|
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile)
|
rs62642518
|
0.01448
|
NM_018943.3(TUBA8):c.816C>T (p.Tyr272=)
|
rs2234332
|
0.01437
|
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)
|
rs7971022
|
0.01436
|
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)
|
rs28526657
|
0.01433
|
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)
|
rs35749032
|
0.01431
|
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
|
rs34070843
|
0.01430
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
NM_020822.3(KCNT1):c.2943+6C>T
|
rs28612938
|
0.01429
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01426
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)
|
rs116297894
|
0.01425
|
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)
|
rs10406745
|
0.01423
|
NM_018834.6(MATR3):c.1602+6A>G
|
rs80036770
|
0.01423
|
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=)
|
rs111744086
|
0.01422
|
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=)
|
rs16869083
|
0.01418
|
NM_000747.3(CHRNB1):c.821-9C>T
|
rs76001008
|
0.01413
|
NM_152743.4(BRAT1):c.1206C>T (p.Asp402=)
|
rs7807895
|
0.01413
|
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu)
|
rs362936
|
0.01411
|
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln)
|
rs190036021
|
0.01411
|
NM_207346.3(TSEN54):c.624-9G>A
|
rs138719855
|
0.01410
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)
|
rs147979536
|
0.01406
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01405
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01404
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)
|
rs11089991
|
0.01397
|
NM_152705.3(POLR1D):c.278A>G (p.His93Arg)
|
rs118191175
|
0.01394
|
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_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=)
|
rs41303346
|
0.01390
|
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)
|
rs79705634
|
0.01389
|
NM_016630.7(SPG21):c.843C>T (p.Tyr281=)
|
rs147428832
|
0.01388
|
NM_006005.3(WFS1):c.2469C>T (p.Ile823=)
|
rs1801215
|
0.01386
|
NM_018136.5(ASPM):c.2751C>T (p.Ala917=)
|
rs33987824
|
0.01382
|
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=)
|
rs77393809
|
0.01379
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
|
rs1801158
|
0.01373
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01373
|
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=)
|
rs2229484
|
0.01369
|
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)
|
rs11549839
|
0.01367
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01365
|
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=)
|
rs76894284
|
0.01359
|
NM_001059.3(TACR3):c.921A>C (p.Thr307=)
|
rs34550211
|
0.01359
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01358
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)
|
rs112290343
|
0.01356
|
NM_007126.5(VCP):c.18-5T>C
|
rs114256093
|
0.01353
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
NM_006005.3(WFS1):c.9C>T (p.Ser3=)
|
rs71524363
|
0.01350
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.01350
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_181882.3(PRX):c.731C>T (p.Ala244Val)
|
rs118071705
|
0.01346
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01345
|
NM_006950.3(SYN1):c.912C>T (p.Ala304=)
|
rs62636605
|
0.01342
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.01341
|
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=)
|
rs17117879
|
0.01337
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=)
|
rs34630198
|
0.01334
|
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro)
|
rs112040665
|
0.01331
|
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met)
|
rs114508894
|
0.01330
|
NM_004562.3(PRKN):c.783A>G (p.Leu261=)
|
rs9456711
|
0.01329
|
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys)
|
rs78861628
|
0.01328
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01324
|
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)
|
rs16044
|
0.01323
|
NM_173660.5(DOK7):c.1317C>T (p.Ser439=)
|
rs16844467
|
0.01323
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)
|
rs41266007
|
0.01322
|
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=)
|
rs35568795
|
0.01320
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01319
|
NM_000257.4(MYH7):c.1002C>T (p.Asn334=)
|
rs34803781
|
0.01316
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_004115.4(FGF14):c.481T>C (p.Leu161=)
|
rs77082831
|
0.01311
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_006883.2(SHOX):c.653G>A (p.Arg218His)
|
rs193072890
|
0.01306
|
NM_000110.4(DPYD):c.1236G>A (p.Glu412=)
|
rs56038477
|
0.01305
|
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=)
|
rs73098087
|
0.01305
|
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)
|
rs2228387
|
0.01303
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)
|
rs116758271
|
0.01300
|
NM_017882.3(CLN6):c.486+8C>T
|
rs149692285
|
0.01298
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01296
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01296
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01295
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
NM_000209.4(PDX1):c.162G>A (p.Leu54=)
|
rs28509441
|
0.01287
|
NM_004999.4(MYO6):c.1176A>G (p.Thr392=)
|
rs2273857
|
0.01287
|
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)
|
rs28610521
|
0.01285
|
NM_021098.3(CACNA1H):c.546-10C>T
|
rs35509671
|
0.01282
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
NM_002296.4(LBR):c.843A>G (p.Val281=)
|
rs61749339
|
0.01280
|
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=)
|
rs191613214
|
0.01279
|
NM_001097577.3(ANG):c.363A>T (p.Thr121=)
|
rs2228653
|
0.01278
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp)
|
rs61729458
|
0.01273
|
NM_001278064.2(GRM1):c.2185C>A (p.Pro729Thr)
|
rs41305288
|
0.01271
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01270
|
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=)
|
rs12301486
|
0.01269
|
NM_201384.3(PLEC):c.1374C>T (p.Thr458=)
|
rs115081018
|
0.01267
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01258
|
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp)
|
rs144662042
|
0.01255
|
NM_001032221.6(STXBP1):c.38-3T>C
|
rs138763389
|
0.01254
|
NM_182914.3(SYNE2):c.13266G>A (p.Gln4422=)
|
rs34944385
|
0.01248
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)
|
rs114326915
|
0.01242
|
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)
|
rs61733017
|
0.01238
|
NM_005045.4(RELN):c.6671+8T>C
|
rs362758
|
0.01237
|
NM_020247.5(COQ8A):c.63G>A (p.Ala21=)
|
rs11549709
|
0.01235
|
NM_000360.4(TH):c.1278G>A (p.Thr426=)
|
rs36097848
|
0.01234
|
NM_006950.3(SYN1):c.838-8T>G
|
rs12394306
|
0.01234
|
NM_201384.3(PLEC):c.2217G>A (p.Gln739=)
|
rs116612406
|
0.01234
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=)
|
rs113442867
|
0.01233
|
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=)
|
rs5316
|
0.01232
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01231
|
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)
|
rs112732576
|
0.01227
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01225
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01224
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01223
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01223
|
NM_001164508.2(NEB):c.3775-6T>C
|
rs80232472
|
0.01222
|
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)
|
rs115477764
|
0.01222
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)
|
rs5736
|
0.01206
|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)
|
rs16999593
|
0.01205
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01203
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01202
|
NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=)
|
rs2289113
|
0.01198
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)
|
rs147350387
|
0.01193
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=)
|
rs34016116
|
0.01190
|
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=)
|
rs115369860
|
0.01189
|
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=)
|
rs80143277
|
0.01189
|
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His)
|
rs145911138
|
0.01187
|
NM_006096.4(NDRG1):c.306C>T (p.Gly102=)
|
rs2233322
|
0.01186
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01184
|
NM_000092.5(COL4A4):c.2717-5A>T
|
rs1800519
|
0.01182
|
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr)
|
rs35400360
|
0.01182
|
NM_198578.4(LRRK2):c.867C>T (p.Asn289=)
|
rs17490713
|
0.01182
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01180
|
NM_032409.3(PINK1):c.1173T>C (p.Asp391=)
|
rs45499398
|
0.01177
|
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu)
|
rs55689103
|
0.01176
|
NM_001278064.2(GRM1):c.2785G>A (p.Val929Ile)
|
rs2941
|
0.01171
|
NM_173500.4(TTBK2):c.3669C>T (p.His1223=)
|
rs74398902
|
0.01170
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01166
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01166
|
NM_001614.5(ACTG1):c.177G>A (p.Gln59=)
|
rs11549220
|
0.01161
|
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=)
|
rs113264142
|
0.01159
|
NM_006946.4(SPTBN2):c.885+5T>C
|
rs114331192
|
0.01156
|
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=)
|
rs28505908
|
0.01156
|
NM_006096.4(NDRG1):c.507G>A (p.Ala169=)
|
rs2233331
|
0.01155
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
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_201384.3(PLEC):c.2305-10del
|
rs142120912
|
0.01150
|
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=)
|
rs5349
|
0.01149
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01149
|
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile)
|
rs114036100
|
0.01144
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)
|
rs17113312
|
0.01141
|
UGT1A1*6
|
rs4148323
|
0.01140
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01136
|
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01135
|
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)
|
rs77791584
|
0.01133
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01130
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly)
|
rs35763277
|
0.01123
|
NM_004782.4(SNAP29):c.-8C>G
|
rs186825747
|
0.01122
|
NM_005912.3(MC4R):c.594C>T (p.Ile198=)
|
rs61741819
|
0.01121
|
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=)
|
rs117306121
|
0.01118
|
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=)
|
rs114169102
|
0.01117
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=)
|
rs73377210
|
0.01114
|
NM_000478.6(ALPL):c.1542G>T (p.Ala514=)
|
rs3200256
|
0.01113
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
NM_003119.4(SPG7):c.2295C>T (p.Asp765=)
|
rs61747712
|
0.01110
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_005529.7(HSPG2):c.5997+5G>C
|
rs59720663
|
0.01104
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01102
|
NM_176787.5(PIGN):c.167C>T (p.Ala56Val)
|
rs61755362
|
0.01101
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01100
|
NM_032119.4(ADGRV1):c.7945+6C>T
|
rs139278305
|
0.01100
|
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)
|
rs16830236
|
0.01099
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01099
|
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr)
|
rs115969845
|
0.01097
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046
|
0.01096
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01093
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)
|
rs2295191
|
0.01093
|
NM_006946.4(SPTBN2):c.234G>A (p.Val78=)
|
rs78309877
|
0.01092
|
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=)
|
rs34275473
|
0.01090
|
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn)
|
rs59291670
|
0.01088
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530
|
0.01088
|
NM_006623.4(PHGDH):c.792+6T>G
|
rs146953046
|
0.01087
|
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)
|
rs55958233
|
0.01086
|
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_001379180.1(ESRRB):c.1300G>A (p.Val434Ile)
|
rs146351534
|
0.01082
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01080
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01076
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)
|
rs141930814
|
0.01071
|
NM_014159.7(SETD2):c.4872T>A (p.Ser1624=)
|
rs75763513
|
0.01071
|
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)
|
rs35433555
|
0.01070
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile)
|
rs34620645
|
0.01064
|
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)
|
rs115493456
|
0.01063
|
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile)
|
rs35791889
|
0.01061
|
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)
|
rs78008536
|
0.01060
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
NM_018136.5(ASPM):c.2805T>C (p.Ser935=)
|
rs113161395
|
0.01058
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01055
|
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)
|
rs34368668
|
0.01053
|
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=)
|
rs35125534
|
0.01050
|
NM_001083961.2(WDR62):c.1642+8C>T
|
rs143309981
|
0.01050
|
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155
|
0.01050
|
NM_000451.4(SHOX):c.870G>A (p.Leu290=)
|
rs746391025
|
0.01047
|
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)
|
rs35303786
|
0.01047
|
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)
|
rs147838690
|
0.01046
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys)
|
rs115454162
|
0.01044
|
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
|
rs76576806
|
0.01043
|
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala)
|
rs35261863
|
0.01041
|
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val)
|
rs35789999
|
0.01040
|
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)
|
rs72913293
|
0.01039
|
NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val)
|
rs45453691
|
0.01034
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
NM_002160.4(TNC):c.2620A>G (p.Ile874Val)
|
rs61737743
|
0.01031
|
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)
|
rs41292143
|
0.01031
|
NM_005477.3(HCN4):c.1683C>A (p.Gly561=)
|
rs62641690
|
0.01030
|
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=)
|
rs150830358
|
0.01029
|
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)
|
rs72955212
|
0.01027
|
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)
|
rs41317925
|
0.01027
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01024
|
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)
|
rs74499562
|
0.01024
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01021
|
NM_001077365.2(POMT1):c.1125C>T (p.His375=)
|
rs35242383
|
0.01019
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01016
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys)
|
rs114901298
|
0.01014
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01006
|
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys)
|
rs150169668
|
0.01005
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_001079802.2(FKTN):c.42G>A (p.Thr14=)
|
rs78794935
|
0.01002
|
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)
|
rs56307230
|
0.01001
|
NM_001079802.2(FKTN):c.106-10G>A
|
rs148384394
|
0.01000
|
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=)
|
rs16830170
|
0.01000
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn)
|
rs17179194
|
0.00998
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.00993
|
NM_003361.4(UMOD):c.538C>G (p.Leu180Val)
|
rs187555378
|
0.00991
|
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=)
|
rs75480336
|
0.00991
|
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=)
|
rs72683923
|
0.00989
|
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)
|
rs76224028
|
0.00988
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.00987
|
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)
|
rs79251068
|
0.00986
|
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_032737.4(LMNB2):c.704G>A (p.Arg235Gln)
|
rs121912497
|
0.00981
|
NM_001166114.2(PNPLA6):c.3094-5C>T
|
rs116788699
|
0.00980
|
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)
|
rs62637652
|
0.00979
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_000352.6(ABCC8):c.4119+18A>G
|
rs75967811
|
0.00977
|
NM_004646.4(NPHS1):c.1930+10C>T
|
rs76131336
|
0.00977
|
NM_006306.4(SMC1A):c.2197-5T>C
|
rs2297104
|
0.00977
|
NM_014855.3(AP5Z1):c.1708-5C>T
|
rs184752711
|
0.00977
|
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=)
|
rs35134741
|
0.00977
|
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)
|
rs142639450
|
0.00974
|
NM_201384.3(PLEC):c.2832C>T (p.Gly944=)
|
rs145050858
|
0.00974
|
NM_000231.3(SGCG):c.435C>T (p.Asn145=)
|
rs35628352
|
0.00973
|
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=)
|
rs145252235
|
0.00972
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=)
|
rs73959261
|
0.00970
|
NM_005529.7(HSPG2):c.831C>T (p.Pro277=)
|
rs41310388
|
0.00969
|
NM_007325.5(GRIA3):c.1501-8T>A
|
rs139058646
|
0.00969
|
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=)
|
rs62636653
|
0.00967
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
NM_012301.4(MAGI2):c.2379C>T (p.Leu793=)
|
rs73703715
|
0.00966
|
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser)
|
rs77015302
|
0.00966
|
NM_004562.3(PRKN):c.957T>C (p.Gly319=)
|
rs144340740
|
0.00965
|
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys)
|
rs61729833
|
0.00965
|
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser)
|
rs35710558
|
0.00965
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00964
|
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys)
|
rs61729788
|
0.00962
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00962
|
NM_007325.5(GRIA3):c.15G>A (p.Lys5=)
|
rs61740996
|
0.00962
|
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)
|
rs61746722
|
0.00962
|
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)
|
rs112545413
|
0.00960
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00959
|
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762
|
0.00959
|
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp)
|
rs146917406
|
0.00958
|
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)
|
rs111347025
|
0.00958
|
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=)
|
rs59385968
|
0.00957
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00953
|
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)
|
rs112647911
|
0.00953
|
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=)
|
rs111487086
|
0.00949
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.00948
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=)
|
rs59844753
|
0.00947
|
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)
|
rs16990169
|
0.00945
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00944
|
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)
|
rs41289969
|
0.00944
|
NM_001144997.2(ITGA7):c.38C>T (p.Thr13Ile)
|
rs11171663
|
0.00943
|
NM_014946.4(SPAST):c.879G>A (p.Pro293=)
|
rs145264166
|
0.00943
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00939
|
NM_016341.4(PLCE1):c.2124G>A (p.Val708=)
|
rs61751496
|
0.00939
|
NM_000026.4(ADSL):c.124C>T (p.Leu42=)
|
rs2228415
|
0.00938
|
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)
|
rs62167164
|
0.00935
|
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile)
|
rs113493697
|
0.00935
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00933
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00930
|
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=)
|
rs62111288
|
0.00930
|
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=)
|
rs112133109
|
0.00930
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)
|
rs61755434
|
0.00926
|
NM_020686.6(ABAT):c.603+3G>A
|
rs41312254
|
0.00925
|
NM_020988.3(GNAO1):c.723+4099G>A
|
rs116277860
|
0.00925
|
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)
|
rs145220403
|
0.00924
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_021942.6(TRAPPC11):c.1422-3G>A
|
rs73872662
|
0.00921
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00921
|
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys)
|
rs199720608
|
0.00920
|
NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met)
|
rs1799979
|
0.00918
|
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn)
|
rs34326474
|
0.00918
|
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=)
|
rs116007471
|
0.00917
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00916
|
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=)
|
rs144596829
|
0.00916
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00915
|
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=)
|
rs80320923
|
0.00914
|
NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala)
|
rs41302407
|
0.00914
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=)
|
rs149101873
|
0.00911
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=)
|
rs117020413
|
0.00908
|
NM_005413.4(SIX3):c.525G>A (p.Gln175=)
|
rs116680477
|
0.00907
|
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
|
rs79771882
|
0.00905
|
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)
|
rs76030344
|
0.00904
|
NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=)
|
rs371202740
|
0.00904
|
NM_021942.6(TRAPPC11):c.832-9A>G
|
rs114748616
|
0.00904
|
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn)
|
rs76699382
|
0.00904
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)
|
rs41274568
|
0.00902
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00899
|
NM_015192.4(PLCB1):c.2413+9C>T
|
rs138442805
|
0.00899
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00899
|
NM_005881.4(BCKDK):c.845+10C>T
|
rs74015068
|
0.00898
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00893
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00892
|
NM_000500.9(CYP21A2):c.*12C>T
|
rs150697472
|
0.00890
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00890
|
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)
|
rs139524103
|
0.00890
|
NM_194248.3(OTOF):c.710+10C>T
|
rs55639868
|
0.00890
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00888
|
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)
|
rs117228915
|
0.00888
|
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu)
|
rs141909783
|
0.00888
|
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)
|
rs61735534
|
0.00885
|
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=)
|
rs58110336
|
0.00885
|
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg)
|
rs2276973
|
0.00877
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00877
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00877
|
NM_003919.3(SGCE):c.1253+814G>A
|
rs183951730
|
0.00875
|
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)
|
rs142356235
|
0.00873
|
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=)
|
rs80241480
|
0.00871
|
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=)
|
rs115087461
|
0.00870
|
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val)
|
rs75248784
|
0.00870
|
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu)
|
rs17755373
|
0.00870
|
NM_000023.4(SGCA):c.528C>T (p.Thr176=)
|
rs1801190
|
0.00868
|
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
|
rs61735104
|
0.00867
|
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu)
|
rs77518617
|
0.00867
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00867
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)
|
rs140226523
|
0.00865
|
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala)
|
rs139064549
|
0.00862
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile)
|
rs34810399
|
0.00860
|
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)
|
rs41311123
|
0.00859
|
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=)
|
rs61749497
|
0.00858
|
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr)
|
rs3087450
|
0.00858
|
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=)
|
rs61520357
|
0.00855
|
NM_001008212.2(OPTN):c.627-10T>C
|
rs80327830
|
0.00853
|
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=)
|
rs11829764
|
0.00853
|
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)
|
rs145101074
|
0.00852
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00850
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00850
|
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val)
|
rs114853127
|
0.00849
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=)
|
rs16830216
|
0.00846
|
NM_002693.3(POLG):c.2109C>A (p.Ala703=)
|
rs2307429
|
0.00845
|
NM_001853.4(COL9A3):c.520-6C>T
|
rs45476191
|
0.00844
|
NM_002055.5(GFAP):c.96T>C (p.Gly32=)
|
rs60045579
|
0.00844
|
NM_001195248.2(APTX):c.318C>T (p.Asn106=)
|
rs79254654
|
0.00842
|
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=)
|
rs55685928
|
0.00841
|
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala)
|
rs138693624
|
0.00841
|
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile)
|
rs115616224
|
0.00839
|
NM_001330078.2(NRXN1):c.772+1140G>A
|
rs61658382
|
0.00837
|
NM_001384140.1(PCDH15):c.475-3C>T
|
rs41304641
|
0.00837
|
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=)
|
rs2229477
|
0.00837
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly)
|
rs17076894
|
0.00834
|
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser)
|
rs138288952
|
0.00834
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00829
|
NM_006096.4(NDRG1):c.199A>G (p.Met67Val)
|
rs2233319
|
0.00829
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00828
|
NM_020919.4(ALS2):c.4581-7A>G
|
rs114458388
|
0.00827
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00826
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_001267550.2(TTN):c.79689C>A (p.Val26563=)
|
rs10185798
|
0.00826
|
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)
|
rs117367857
|
0.00826
|
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=)
|
rs61748693
|
0.00825
|
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His)
|
rs79486252
|
0.00823
|
NM_001244008.2(KIF1A):c.184-10C>T
|
rs7594776
|
0.00820
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu)
|
rs34231046
|
0.00820
|
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)
|
rs114788199
|
0.00819
|
NM_182914.3(SYNE2):c.16305G>A (p.Leu5435=)
|
rs116758464
|
0.00817
|
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)
|
rs114454383
|
0.00816
|
NM_001077365.2(POMT1):c.1826-7C>A
|
rs148180760
|
0.00816
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00811
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_000484.4(APP):c.2133C>A (p.Val711=)
|
rs116650065
|
0.00808
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)
|
rs41299623
|
0.00808
|
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)
|
rs77898819
|
0.00804
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=)
|
rs35082264
|
0.00802
|
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)
|
rs1800172
|
0.00801
|
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe)
|
rs35322815
|
0.00800
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00799
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00798
|
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085
|
0.00798
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00793
|
NM_001164508.2(NEB):c.24208-7C>T
|
rs113048349
|
0.00793
|
NM_000478.6(ALPL):c.1119C>T (p.Thr373=)
|
rs112335417
|
0.00792
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met)
|
rs114274755
|
0.00791
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)
|
rs62640037
|
0.00787
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00786
|
NM_002693.3(POLG):c.3644-9A>G
|
rs115048121
|
0.00785
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00782
|
NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe)
|
rs117380920
|
0.00782
|
NM_194248.3(OTOF):c.2025G>A (p.Glu675=)
|
rs61746988
|
0.00782
|
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=)
|
rs140722653
|
0.00781
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=)
|
rs34616316
|
0.00781
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)
|
rs144845223
|
0.00779
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)
|
rs141844887
|
0.00776
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
NM_006005.3(WFS1):c.1308C>T (p.Thr436=)
|
rs71539646
|
0.00773
|
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=)
|
rs115891952
|
0.00773
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00772
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054
|
0.00771
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)
|
rs78461695
|
0.00769
|
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)
|
rs61734527
|
0.00766
|
NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=)
|
rs60142264
|
0.00766
|
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=)
|
rs61753382
|
0.00763
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00762
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_023110.3(FGFR1):c.600C>T (p.Asp200=)
|
rs17175898
|
0.00761
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
NM_003793.4(CTSF):c.1368C>T (p.Asp456=)
|
rs148155987
|
0.00759
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_002296.4(LBR):c.90C>T (p.His30=)
|
rs2230416
|
0.00758
|
NM_003793.4(CTSF):c.939G>A (p.Gly313=)
|
rs114727660
|
0.00758
|
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)
|
rs35540805
|
0.00758
|
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala)
|
rs34837068
|
0.00758
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)
|
rs114207045
|
0.00755
|
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)
|
rs35648306
|
0.00755
|
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)
|
rs143414291
|
0.00754
|
NM_130837.3(OPA1):c.2049A>G (p.Val683=)
|
rs73069703
|
0.00753
|
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala)
|
rs11833299
|
0.00751
|
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)
|
rs112812685
|
0.00750
|
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=)
|
rs79039458
|
0.00749
|
NM_018979.4(WNK1):c.684C>T (p.Gly228=)
|
rs72647374
|
0.00748
|
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)
|
rs52820871
|
0.00746
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
NM_001267550.2(TTN):c.37722T>C (p.Val12574=)
|
rs377422414
|
0.00745
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00744
|
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=)
|
rs61739601
|
0.00743
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00742
|
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)
|
rs116644127
|
0.00741
|
NM_000334.4(SCN4A):c.3441+7G>A
|
rs142270113
|
0.00738
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00738
|
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=)
|
rs80094872
|
0.00737
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_000231.3(SGCG):c.*10G>A
|
rs139369964
|
0.00736
|
NM_001077365.2(POMT1):c.1826-6C>A
|
rs140258585
|
0.00735
|
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp)
|
rs28464796
|
0.00735
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00734
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00734
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00732
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00731
|
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln)
|
rs56332208
|
0.00731
|
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln)
|
rs75122556
|
0.00731
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00724
|
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu)
|
rs78759480
|
0.00723
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00722
|
NM_012301.4(MAGI2):c.2329T>C (p.Leu777=)
|
rs76346657
|
0.00722
|
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val)
|
rs45496299
|
0.00721
|
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly)
|
rs111695726
|
0.00720
|
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=)
|
rs143784787
|
0.00720
|
NM_153676.4(USH1C):c.2547-8A>G
|
rs78509055
|
0.00720
|
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr)
|
rs112230218
|
0.00719
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=)
|
rs140831372
|
0.00717
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala)
|
rs4640000
|
0.00717
|
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=)
|
rs184931664
|
0.00715
|
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)
|
rs41292285
|
0.00715
|
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=)
|
rs76576170
|
0.00714
|
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=)
|
rs35538317
|
0.00714
|
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp)
|
rs147175064
|
0.00713
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00712
|
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=)
|
rs16059
|
0.00712
|
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)
|
rs74632023
|
0.00712
|
NM_201378.4(PLEC):c.71-11718C>T
|
rs190222339
|
0.00712
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00709
|
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=)
|
rs143426579
|
0.00709
|
NM_000500.9(CYP21A2):c.939+11G>C
|
rs6442
|
0.00708
|
NM_001365999.1(SZT2):c.759G>A (p.Ser253=)
|
rs1889586
|
0.00708
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_020686.6(ABAT):c.1269+4A>C
|
rs183947905
|
0.00708
|
NM_001379110.1(SLC9A6):c.1662-4G>A
|
rs188072063
|
0.00707
|
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996
|
0.00707
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
|
rs112571971
|
0.00706
|
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)
|
rs113369380
|
0.00705
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00705
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00705
|
NM_024570.4(RNASEH2B):c.822+6T>C
|
rs76413207
|
0.00705
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00704
|
NM_024411.5(PDYN):c.575A>T (p.Glu192Val)
|
rs45469293
|
0.00704
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)
|
rs114095081
|
0.00702
|
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)
|
rs34952009
|
0.00701
|
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=)
|
rs1800039
|
0.00699
|
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)
|
rs116716038
|
0.00699
|
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr)
|
rs2501264
|
0.00699
|
NM_005619.5(RTN2):c.792C>A (p.Phe264Leu)
|
rs61745812
|
0.00699
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
NM_000070.3(CAPN3):c.939G>A (p.Pro313=)
|
rs78369269
|
0.00698
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=)
|
rs113335442
|
0.00696
|
NM_001278064.2(GRM1):c.3107G>T (p.Gly1036Val)
|
rs144944927
|
0.00695
|
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=)
|
rs77310009
|
0.00694
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=)
|
rs73969174
|
0.00694
|
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623
|
0.00694
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn)
|
rs2289366
|
0.00694
|
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)
|
rs62639702
|
0.00693
|
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)
|
rs117498128
|
0.00693
|
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg)
|
rs192925278
|
0.00691
|
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn)
|
rs78827970
|
0.00691
|
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=)
|
rs17778478
|
0.00691
|
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)
|
rs114076205
|
0.00690
|
NM_001292063.2(OTOG):c.1797G>A (p.Arg599=)
|
rs73418068
|
0.00690
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=)
|
rs61742808
|
0.00685
|
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)
|
rs75559202
|
0.00684
|
NM_198994.3(TGM6):c.42G>A (p.Ser14=)
|
rs149394698
|
0.00684
|
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
|
rs144723656
|
0.00682
|
NM_000092.5(COL4A4):c.198A>G (p.Pro66=)
|
rs147947155
|
0.00681
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val)
|
rs62642505
|
0.00677
|
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=)
|
rs148865812
|
0.00677
|
NM_000092.5(COL4A4):c.666G>A (p.Pro222=)
|
rs111945121
|
0.00676
|
NM_000336.3(SCNN1B):c.1543-17C>T
|
rs35074083
|
0.00676
|
NM_001242896.3(DEPDC5):c.2139A>G (p.Leu713=)
|
rs16989536
|
0.00675
|
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)
|
rs150942467
|
0.00675
|
NM_016373.4(WWOX):c.613C>A (p.His205Asn)
|
rs74860463
|
0.00674
|
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg)
|
rs35581768
|
0.00674
|
NM_198576.4(AGRN):c.67G>C (p.Val23Leu)
|
rs201073369
|
0.00674
|
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly)
|
rs34114147
|
0.00673
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr)
|
rs79724097
|
0.00672
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
NM_001845.6(COL4A1):c.4640+8G>A
|
rs117566874
|
0.00671
|
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)
|
rs2229485
|
0.00669
|
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00669
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00668
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)
|
rs55685423
|
0.00667
|
NM_001029896.2(WDR45):c.838G>A (p.Val280Met)
|
rs149509552
|
0.00667
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00667
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
NM_007126.5(VCP):c.1082-9G>T
|
rs12349922
|
0.00667
|
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)
|
rs59636120
|
0.00667
|
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr)
|
rs145018752
|
0.00666
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00665
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461
|
0.00664
|
NM_005619.5(RTN2):c.1593C>T (p.Ala531=)
|
rs148630935
|
0.00663
|
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)
|
rs139815570
|
0.00662
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00661
|
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=)
|
rs144093014
|
0.00660
|
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val)
|
rs116775947
|
0.00658
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00658
|
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile)
|
rs139486476
|
0.00657
|
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)
|
rs2229474
|
0.00657
|
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=)
|
rs78073508
|
0.00657
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00657
|
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=)
|
rs76426116
|
0.00655
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00652
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00651
|
NM_201384.3(PLEC):c.9966C>T (p.Val3322=)
|
rs35613096
|
0.00651
|
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala)
|
rs117064827
|
0.00650
|
NM_022173.4(TIA1):c.1086G>A (p.Pro362=)
|
rs72902461
|
0.00650
|
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=)
|
rs60091617
|
0.00650
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_000447.3(PSEN2):c.861C>T (p.Pro287=)
|
rs75733498
|
0.00649
|
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)
|
rs116373583
|
0.00649
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00649
|
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn)
|
rs116000545
|
0.00649
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00648
|
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)
|
rs146358566
|
0.00648
|
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val)
|
rs111851716
|
0.00648
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)
|
rs146753539
|
0.00646
|
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674
|
0.00646
|
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)
|
rs112955915
|
0.00645
|
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)
|
rs142948530
|
0.00645
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=)
|
rs76184385
|
0.00641
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00640
|
NM_004393.6(DAG1):c.259A>G (p.Ile87Val)
|
rs116717961
|
0.00640
|
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)
|
rs34452707
|
0.00640
|
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=)
|
rs146781877
|
0.00639
|
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser)
|
rs113611857
|
0.00638
|
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)
|
rs145737766
|
0.00637
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu)
|
rs139294803
|
0.00637
|
NM_004614.5(TK2):c.94C>T (p.Arg32Trp)
|
rs200121712
|
0.00636
|
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys)
|
rs60414549
|
0.00636
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00635
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val)
|
rs35378260
|
0.00633
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00632
|
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=)
|
rs11537737
|
0.00632
|
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=)
|
rs61750378
|
0.00631
|
NM_032119.4(ADGRV1):c.10769+9A>G
|
rs116184119
|
0.00631
|
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)
|
rs201222692
|
0.00627
|
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=)
|
rs148478875
|
0.00627
|
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00626
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=)
|
rs144316388
|
0.00625
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=)
|
rs142346283
|
0.00625
|
NM_002055.5(GFAP):c.738G>A (p.Ala246=)
|
rs147404772
|
0.00624
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00623
|
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)
|
rs77632964
|
0.00622
|
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)
|
rs138477292
|
0.00622
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)
|
rs75860381
|
0.00621
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_000170.3(GLDC):c.2919+3A>G
|
rs73639325
|
0.00620
|
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)
|
rs35455108
|
0.00620
|
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys)
|
rs35719391
|
0.00619
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
NM_001077365.2(POMT1):c.891G>A (p.Leu297=)
|
rs76109289
|
0.00616
|
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020
|
0.00616
|
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)
|
rs16026
|
0.00616
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00613
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)
|
rs116890187
|
0.00613
|
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)
|
rs116134831
|
0.00613
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00611
|
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)
|
rs143736974
|
0.00611
|
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)
|
rs76815324
|
0.00610
|
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)
|
rs59297244
|
0.00610
|
NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu)
|
rs78191145
|
0.00610
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00609
|
NM_203446.3(SYNJ1):c.*611C>T
|
rs76056543
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00608
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00608
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00606
|
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu)
|
rs114954026
|
0.00606
|
NM_001379500.1(COL18A1):c.107-12656C>T
|
rs7277693
|
0.00605
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00605
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00603
|
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn)
|
rs145653077
|
0.00603
|
NM_201384.3(PLEC):c.2961C>T (p.Ser987=)
|
rs149932255
|
0.00603
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)
|
rs35493783
|
0.00602
|
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser)
|
rs147103646
|
0.00601
|
NM_058246.4(DNAJB6):c.899-6C>T
|
rs78337193
|
0.00601
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00600
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00600
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)
|
rs36083134
|
0.00599
|
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=)
|
rs111932993
|
0.00598
|
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=)
|
rs35854729
|
0.00598
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00597
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00597
|
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=)
|
rs112461557
|
0.00596
|
NM_012301.4(MAGI2):c.276C>G (p.Pro92=)
|
rs146012909
|
0.00596
|
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)
|
rs62000429
|
0.00596
|
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)
|
rs59915619
|
0.00594
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00594
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=)
|
rs58615599
|
0.00591
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00589
|
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_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)
|
rs72648946
|
0.00585
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_006012.4(CLPP):c.368-8G>A
|
rs143053584
|
0.00583
|
NM_182914.3(SYNE2):c.5517A>T (p.Leu1839Phe)
|
rs35883188
|
0.00583
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)
|
rs80297119
|
0.00582
|
NM_182914.3(SYNE2):c.2934A>G (p.Glu978=)
|
rs34001379
|
0.00582
|
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr)
|
rs183580097
|
0.00581
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp)
|
rs141361080
|
0.00579
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=)
|
rs116236999
|
0.00578
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser)
|
rs140451075
|
0.00577
|
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=)
|
rs149563706
|
0.00576
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00575
|
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val)
|
rs75843082
|
0.00575
|
NM_173354.5(SIK1):c.1463-7C>T
|
rs142866662
|
0.00575
|
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)
|
rs73969684
|
0.00574
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)
|
rs33971253
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_181882.3(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
0.00567
|
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)
|
rs111529228
|
0.00567
|
NM_023110.3(FGFR1):c.345C>T (p.Ser115=)
|
rs2915665
|
0.00567
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00566
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_014855.3(AP5Z1):c.791-5C>T
|
rs73671921
|
0.00565
|
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=)
|
rs61529674
|
0.00565
|
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=)
|
rs35480887
|
0.00563
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_001009944.3(PKD1):c.11537+3_11537+5dup
|
rs201204878
|
0.00559
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=)
|
rs113391261
|
0.00559
|
NM_001367721.1(CASK):c.2040-9A>G
|
rs138290714
|
0.00559
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460
|
0.00559
|
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=)
|
rs114699935
|
0.00559
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00558
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_000426.4(LAMA2):c.4437-5T>A
|
rs41285288
|
0.00557
|
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)
|
rs141536854
|
0.00557
|
NM_032634.4(PIGO):c.1473G>C (p.Leu491=)
|
rs76932500
|
0.00557
|
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=)
|
rs186848048
|
0.00556
|
NM_014208.3(DSPP):c.1259T>C (p.Val420Ala)
|
rs191967636
|
0.00555
|
NM_000297.4(PKD2):c.570G>T (p.Ala190=)
|
rs541702320
|
0.00554
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_001195248.2(APTX):c.596G>A (p.Arg199His)
|
rs150886026
|
0.00552
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_005619.5(RTN2):c.444C>G (p.Gly148=)
|
rs139232850
|
0.00550
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00549
|
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
|
rs5738
|
0.00548
|
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)
|
rs41311573
|
0.00548
|
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)
|
rs150515843
|
0.00548
|
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)
|
rs1805362
|
0.00548
|
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)
|
rs34456867
|
0.00548
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00547
|
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)
|
rs35089085
|
0.00547
|
NM_004817.4(TJP2):c.61-7344G>C
|
rs73450853
|
0.00547
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00547
|
NM_001845.6(COL4A1):c.393G>A (p.Glu131=)
|
rs34458255
|
0.00546
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00546
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
NM_001292063.2(OTOG):c.8542-8C>T
|
rs182750732
|
0.00545
|
NM_000085.5(CLCNKB):c.1297+5G>T
|
rs35351345
|
0.00544
|
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=)
|
rs146805986
|
0.00544
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=)
|
rs145833114
|
0.00542
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)
|
rs2307447
|
0.00542
|
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611
|
0.00542
|
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)
|
rs35884879
|
0.00541
|
NM_198904.4(GABRG2):c.360G>A (p.Thr120=)
|
rs77298346
|
0.00541
|
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)
|
rs115913736
|
0.00540
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00539
|
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu)
|
rs74591375
|
0.00539
|
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)
|
rs73113975
|
0.00536
|
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)
|
rs147990356
|
0.00536
|
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys)
|
rs115847686
|
0.00535
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser)
|
rs72556360
|
0.00534
|
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)
|
rs62640939
|
0.00534
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00534
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_001113491.2(SEPTIN9):c.1573+9C>T
|
rs148975193
|
0.00531
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)
|
rs149796549
|
0.00530
|
NM_000400.4(ERCC2):c.1238-1155C>G
|
rs41275762
|
0.00529
|
NM_001367561.1(DOCK7):c.1392A>G (p.Pro464=)
|
rs116172511
|
0.00529
|
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)
|
rs138819654
|
0.00529
|
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)
|
rs201050491
|
0.00529
|
NM_182914.3(SYNE2):c.14430A>G (p.Thr4810=)
|
rs34248042
|
0.00527
|
NM_203290.4(POLR1C):c.634A>G (p.Met212Val)
|
rs79222964
|
0.00527
|
NM_000297.4(PKD2):c.2134T>C (p.Leu712=)
|
rs73841280
|
0.00526
|
NM_000540.3(RYR1):c.2241G>A (p.Leu747=)
|
rs34097444
|
0.00526
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00526
|
NM_182914.3(SYNE2):c.16522T>A (p.Ser5508Thr)
|
rs35190322
|
0.00526
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00525
|
NM_003919.3(SGCE):c.391-79G>T
|
rs545885131
|
0.00525
|
NM_024589.3(ROGDI):c.713G>A (p.Arg238His)
|
rs138409264
|
0.00525
|
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)
|
rs139950628
|
0.00524
|
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)
|
rs115652716
|
0.00524
|
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)
|
rs146136277
|
0.00524
|
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=)
|
rs45600931
|
0.00523
|
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)
|
rs111578437
|
0.00523
|
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)
|
rs63750412
|
0.00523
|
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val)
|
rs144349326
|
0.00522
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_012188.5(FOXI1):c.726C>T (p.Ser242=)
|
rs35678180
|
0.00520
|
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=)
|
rs141714960
|
0.00519
|
NM_004463.3(FGD1):c.2757G>A (p.Ala919=)
|
rs61734180
|
0.00519
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
0.00518
|
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)
|
rs186075307
|
0.00518
|
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=)
|
rs145376880
|
0.00518
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)
|
rs138031468
|
0.00517
|
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=)
|
rs28674911
|
0.00516
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577
|
0.00516
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00515
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00514
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00513
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)
|
rs117070973
|
0.00512
|
NM_004839.4(HOMER2):c.764A>G (p.Glu255Gly)
|
rs79448007
|
0.00511
|
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)
|
rs61382101
|
0.00511
|
NM_032634.4(PIGO):c.2040G>C (p.Leu680=)
|
rs41274877
|
0.00511
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=)
|
rs116006955
|
0.00510
|
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
|
rs35450031
|
0.00509
|
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)
|
rs148164067
|
0.00508
|
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=)
|
rs114430490
|
0.00507
|
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=)
|
rs41313687
|
0.00507
|
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)
|
rs117856830
|
0.00507
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00507
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)
|
rs140990288
|
0.00507
|
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=)
|
rs146111948
|
0.00507
|
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg)
|
rs587784500
|
0.00507
|
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=)
|
rs116354015
|
0.00506
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00506
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00505
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00504
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00503
|
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751
|
0.00503
|
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)
|
rs77303974
|
0.00503
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00502
|
NM_031475.3(ESPN):c.2070G>A (p.Ser690=)
|
rs142850918
|
0.00502
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00501
|
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=)
|
rs111518952
|
0.00501
|
NM_000166.6(GJB1):c.-77G>A
|
rs190676487
|
0.00500
|
NM_201384.3(PLEC):c.3869A>G (p.Lys1290Arg)
|
rs200895043
|
0.00500
|
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=)
|
rs35110478
|
0.00499
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00497
|
NM_002578.5(PAK3):c.276+2659T>C
|
rs142890115
|
0.00497
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_001378452.1(ITPR1):c.6510+7T>C
|
rs115430385
|
0.00496
|
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)
|
rs140785104
|
0.00496
|
NM_000209.4(PDX1):c.-18C>T
|
rs193922351
|
0.00495
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00495
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00495
|
NM_014625.4(NPHS2):c.87C>G (p.Ala29=)
|
rs12123397
|
0.00495
|
NM_000360.4(TH):c.579C>T (p.Gly193=)
|
rs147852210
|
0.00494
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
NM_002055.5(GFAP):c.720G>T (p.Thr240=)
|
rs2229012
|
0.00494
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)
|
rs76463072
|
0.00494
|
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753
|
0.00494
|
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu)
|
rs148425392
|
0.00493
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00493
|
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=)
|
rs115211871
|
0.00492
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_005629.4(SLC6A8):c.1496-5C>T
|
rs200695210
|
0.00491
|
NM_006420.3(ARFGEF2):c.423+3A>G
|
rs2295029
|
0.00491
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_004999.4(MYO6):c.2982G>A (p.Glu994=)
|
rs55905349
|
0.00487
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00486
|
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr)
|
rs116480183
|
0.00486
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)
|
rs140088745
|
0.00485
|
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)
|
rs140403186
|
0.00485
|
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala)
|
rs61734958
|
0.00485
|
NM_000540.3(RYR1):c.873G>A (p.Ala291=)
|
rs2229140
|
0.00484
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00484
|
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)
|
rs138139146
|
0.00483
|
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
NM_000338.3(SLC12A1):c.2296-6G>T
|
rs34047900
|
0.00478
|
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)
|
rs61750975
|
0.00478
|
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)
|
rs142315727
|
0.00478
|
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu)
|
rs76000738
|
0.00477
|
NM_004614.5(TK2):c.231+10C>T
|
rs187517309
|
0.00476
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00475
|
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
|
rs1801710
|
0.00475
|
NM_198994.3(TGM6):c.-2A>G
|
rs80329336
|
0.00475
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=)
|
rs182431279
|
0.00474
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg)
|
rs36031476
|
0.00473
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00473
|
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_020822.3(KCNT1):c.59G>C (p.Gly20Ala)
|
rs146292575
|
0.00472
|
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile)
|
rs80136515
|
0.00471
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_015346.4(ZFYVE26):c.6588+7C>T
|
rs186040735
|
0.00471
|
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=)
|
rs61073355
|
0.00471
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00468
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe)
|
rs186232617
|
0.00468
|
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)
|
rs113803159
|
0.00468
|
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr)
|
rs113745835
|
0.00467
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00466
|
NM_018109.4(MTPAP):c.158-9C>T
|
rs139217290
|
0.00466
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00466
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00466
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00465
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00465
|
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)
|
rs138054675
|
0.00464
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00462
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys)
|
rs200842904
|
0.00462
|
NM_001083961.2(WDR62):c.2334-6C>A
|
rs138928852
|
0.00461
|
NM_004977.3(KCNC3):c.984G>A (p.Pro328=)
|
rs114192110
|
0.00461
|
NM_005529.7(HSPG2):c.1998+9C>T
|
rs377228309
|
0.00461
|
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=)
|
rs146387723
|
0.00460
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00460
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)
|
rs34563188
|
0.00460
|
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg)
|
rs12327568
|
0.00459
|
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)
|
rs144634857
|
0.00455
|
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=)
|
rs61750379
|
0.00455
|
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)
|
rs138652708
|
0.00454
|
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=)
|
rs78543192
|
0.00454
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=)
|
rs115107511
|
0.00453
|
NM_003672.4(CDC14A):c.819C>G (p.Ala273=)
|
rs28364884
|
0.00453
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00453
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)
|
rs61750221
|
0.00452
|
NC_000007.14:g.129774728G>A
|
rs73159662
|
0.00451
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519
|
0.00451
|
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val)
|
rs61756204
|
0.00451
|
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=)
|
rs12140044
|
0.00451
|
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)
|
rs117336941
|
0.00451
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00450
|
NM_005619.5(RTN2):c.351A>G (p.Gln117=)
|
rs144028452
|
0.00450
|
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)
|
rs61757684
|
0.00449
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437
|
0.00449
|
NM_014845.6(FIG4):c.66+10C>T
|
rs200063827
|
0.00449
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00449
|
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn)
|
rs150218102
|
0.00449
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082
|
0.00448
|
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr)
|
rs114471872
|
0.00448
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00448
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00447
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859
|
0.00447
|
NM_003793.4(CTSF):c.1158C>T (p.Asn386=)
|
rs116329758
|
0.00447
|
NM_001267550.2(TTN):c.*6C>A
|
rs188728343
|
0.00446
|
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
|
rs56086732
|
0.00446
|
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)
|
rs55720916
|
0.00446
|
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=)
|
rs77238446
|
0.00445
|
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)
|
rs116826217
|
0.00445
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00445
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys)
|
rs77314072
|
0.00444
|
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)
|
rs78269740
|
0.00443
|
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly)
|
rs145086096
|
0.00442
|
NM_005045.4(RELN):c.5775A>G (p.Arg1925=)
|
rs2711866
|
0.00442
|
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=)
|
rs116536134
|
0.00441
|
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)
|
rs114241603
|
0.00441
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00440
|
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met)
|
rs377665141
|
0.00440
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00439
|
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)
|
rs61754130
|
0.00437
|
NM_002047.4(GARS1):c.2190G>A (p.Glu730=)
|
rs190132116
|
0.00437
|
NM_004733.4(SLC33A1):c.1482+7A>G
|
rs149522913
|
0.00437
|
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln)
|
rs61757110
|
0.00436
|
NM_002473.6(MYH9):c.1083C>T (p.Asp361=)
|
rs56001030
|
0.00436
|
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)
|
rs73928330
|
0.00436
|
NM_005629.4(SLC6A8):c.1768-3C>T
|
rs150207268
|
0.00435
|
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp)
|
rs79509430
|
0.00435
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_000088.4(COL1A1):c.750+12G>T
|
rs79480112
|
0.00434
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His)
|
rs200351672
|
0.00434
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00434
|
NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys)
|
rs36054877
|
0.00433
|
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)
|
rs116012798
|
0.00432
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)
|
rs41316725
|
0.00431
|
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys)
|
rs61998220
|
0.00431
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00429
|
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu)
|
rs35579086
|
0.00428
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)
|
rs186848953
|
0.00427
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)
|
rs75362060
|
0.00424
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00423
|
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)
|
rs61745465
|
0.00423
|
NM_015295.3(SMCHD1):c.*7A>G
|
rs140650738
|
0.00423
|
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=)
|
rs200451188
|
0.00422
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00422
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00420
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00420
|
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn)
|
rs35342218
|
0.00419
|
NM_000391.4(TPP1):c.42C>A (p.Ile14=)
|
rs35903915
|
0.00419
|
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=)
|
rs146480068
|
0.00419
|
NM_006946.4(SPTBN2):c.6099G>A (p.Glu2033=)
|
rs150696057
|
0.00419
|
NM_021072.4(HCN1):c.1797A>G (p.Ser599=)
|
rs148932124
|
0.00419
|
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro)
|
rs78501403
|
0.00417
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)
|
rs80299691
|
0.00417
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00417
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00416
|
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)
|
rs35811023
|
0.00416
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)
|
rs150478342
|
0.00415
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00414
|
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739
|
0.00414
|
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)
|
rs55816283
|
0.00413
|
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=)
|
rs80111665
|
0.00413
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=)
|
rs1054332
|
0.00412
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_004006.3(DMD):c.1718C>T (p.Ala573Val)
|
rs5972599
|
0.00411
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00411
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln)
|
rs188076386
|
0.00411
|
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=)
|
rs61756694
|
0.00411
|
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)
|
rs188353745
|
0.00410
|
NM_000069.3(CACNA1S):c.3953+7G>A
|
rs141071505
|
0.00409
|
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His)
|
rs62642521
|
0.00408
|
NM_175914.5(HNF4A):c.583-27G>A
|
rs113495257
|
0.00408
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00408
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
NM_001113491.2(SEPTIN9):c.1574-10C>T
|
rs192537441
|
0.00407
|
NM_001164508.2(NEB):c.2640C>T (p.Arg880=)
|
rs114959904
|
0.00407
|
NM_001379500.1(COL18A1):c.2979A>C (p.Pro993=)
|
rs575364982
|
0.00407
|
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)
|
rs117771893
|
0.00407
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys)
|
rs62642525
|
0.00406
|
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)
|
rs144620006
|
0.00406
|
NM_198994.3(TGM6):c.12C>G (p.Ile4Met)
|
rs139796716
|
0.00406
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)
|
rs150918383
|
0.00405
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys)
|
rs567966154
|
0.00404
|
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=)
|
rs72887798
|
0.00404
|
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=)
|
rs146381488
|
0.00404
|
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)
|
rs146704802
|
0.00404
|
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met)
|
rs141727248
|
0.00403
|
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=)
|
rs186547090
|
0.00403
|
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp)
|
rs144610086
|
0.00403
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00402
|
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg)
|
rs113325473
|
0.00402
|
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)
|
rs62641756
|
0.00401
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00400
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
NM_004646.4(NPHS1):c.1170+8G>A
|
rs140808195
|
0.00400
|
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)
|
rs186670912
|
0.00400
|
NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=)
|
rs148810263
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)
|
rs59696308
|
0.00399
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00398
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00398
|
NM_000481.4(AMT):c.898A>G (p.Met300Val)
|
rs144971200
|
0.00397
|
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)
|
rs147336902
|
0.00397
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00397
|
NM_001330260.2(SCN8A):c.928+9C>T
|
rs148027656
|
0.00397
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=)
|
rs116550473
|
0.00395
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00393
|
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)
|
rs145906515
|
0.00393
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00391
|
NM_001376256.1(CRYM):c.807T>C (p.Phe269=)
|
rs144588424
|
0.00391
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00391
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)
|
rs148304857
|
0.00390
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00390
|
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)
|
rs577235589
|
0.00390
|
NM_182961.4(SYNE1):c.11756C>T (p.Ala3919Val)
|
rs114367594
|
0.00390
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001852.4(COL9A2):c.1870+9T>C
|
rs139929272
|
0.00389
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00388
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00388
|
NM_001242896.3(DEPDC5):c.2856T>C (p.Cys952=)
|
rs115299174
|
0.00386
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00386
|
NM_001164508.2(NEB):c.1675-9T>G
|
rs75118047
|
0.00385
|
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)
|
rs35973343
|
0.00385
|
NM_000193.4(SHH):c.301-163C>T
|
rs4716913
|
0.00384
|
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu)
|
rs115591710
|
0.00384
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His)
|
rs115510695
|
0.00383
|
NM_001379110.1(SLC9A6):c.-57+50G>T
|
rs201523857
|
0.00383
|
NM_004172.5(SLC1A3):c.792G>A (p.Gly264=)
|
rs139659178
|
0.00383
|
NM_000089.4(COL1A2):c.2349+16G>C
|
rs112603291
|
0.00382
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00380
|
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077
|
0.00380
|
NM_014231.5(VAMP1):c.*1630C>T
|
rs71584837
|
0.00380
|
NM_001145809.2(MYH14):c.2763A>G (p.Lys921=)
|
rs191788683
|
0.00379
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met)
|
rs116600265
|
0.00379
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)
|
rs138171526
|
0.00378
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=)
|
rs145837095
|
0.00378
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile)
|
rs115399307
|
0.00376
|
NM_198994.3(TGM6):c.1235G>A (p.Arg412His)
|
rs142679146
|
0.00376
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=)
|
rs115735672
|
0.00374
|
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp)
|
rs142805337
|
0.00374
|
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)
|
rs78889849
|
0.00373
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)
|
rs11543347
|
0.00370
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00370
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)
|
rs139687202
|
0.00369
|
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)
|
rs61731613
|
0.00368
|
NM_018451.5(CPAP):c.1233G>A (p.Pro411=)
|
rs112133852
|
0.00368
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00367
|
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)
|
rs149309844
|
0.00367
|
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=)
|
rs149938033
|
0.00366
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00364
|
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)
|
rs140921822
|
0.00364
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
NM_016630.7(SPG21):c.318T>C (p.Phe106=)
|
rs147236778
|
0.00364
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00364
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00363
|
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
|
rs60593994
|
0.00363
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00363
|
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr)
|
rs182428755
|
0.00362
|
NM_001005361.3(DNM2):c.236-8C>G
|
rs143084059
|
0.00361
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00360
|
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=)
|
rs141424852
|
0.00360
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)
|
rs200575795
|
0.00358
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00357
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn)
|
rs75467696
|
0.00357
|
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)
|
rs150125249
|
0.00357
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00356
|
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)
|
rs3827462
|
0.00356
|
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291
|
0.00356
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00356
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)
|
rs34961653
|
0.00355
|
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln)
|
rs111858905
|
0.00354
|
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=)
|
rs17215493
|
0.00354
|
NM_001243133.2(NLRP3):c.1389C>T (p.His463=)
|
rs111400208
|
0.00354
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258
|
0.00354
|
NM_003919.3(SGCE):c.369G>C (p.Val123=)
|
rs140913016
|
0.00354
|
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)
|
rs114647348
|
0.00354
|
NM_017668.3(NDE1):c.486C>T (p.Leu162=)
|
rs140251634
|
0.00354
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985
|
0.00353
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648
|
0.00353
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00352
|
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val)
|
rs200575377
|
0.00352
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=)
|
rs115322282
|
0.00351
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)
|
rs34634937
|
0.00350
|
NM_021072.4(HCN1):c.140G>T (p.Gly47Val)
|
rs544994462
|
0.00350
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00349
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00349
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00348
|
NM_000548.5(TSC2):c.948G>A (p.Pro316=)
|
rs45517141
|
0.00348
|
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met)
|
rs144202114
|
0.00348
|
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)
|
rs118098246
|
0.00348
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)
|
rs113277954
|
0.00347
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00347
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00347
|
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)
|
rs114223739
|
0.00347
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00346
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00346
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)
|
rs61731011
|
0.00345
|
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=)
|
rs117237998
|
0.00345
|
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)
|
rs183218622
|
0.00344
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg)
|
rs114969026
|
0.00341
|
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)
|
rs201687417
|
0.00341
|
NM_194248.3(OTOF):c.2215-77T>G
|
rs76130130
|
0.00341
|
NM_000089.4(COL1A2):c.975A>T (p.Gly325=)
|
rs148063325
|
0.00340
|
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=)
|
rs114766691
|
0.00339
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00339
|
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)
|
rs113203706
|
0.00339
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00339
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00339
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu)
|
rs117005078
|
0.00338
|
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)
|
rs34038163
|
0.00337
|
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala)
|
rs150113647
|
0.00337
|
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)
|
rs150900416
|
0.00337
|
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=)
|
rs147268650
|
0.00337
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767
|
0.00336
|
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283
|
0.00336
|
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)
|
rs114251396
|
0.00335
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00335
|
NM_153700.2(STRC):c.3540T>G (p.Leu1180=)
|
rs199524735
|
0.00335
|
NM_175875.5(SIX5):c.732G>A (p.Gln244=)
|
rs141944211
|
0.00335
|
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn)
|
rs78535378
|
0.00334
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00334
|
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=)
|
rs140115896
|
0.00334
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)
|
rs151078549
|
0.00333
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00332
|
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)
|
rs75075497
|
0.00332
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00331
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val)
|
rs115279465
|
0.00331
|
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu)
|
rs202217944
|
0.00330
|
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294
|
0.00330
|
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)
|
rs148104020
|
0.00330
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00330
|
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=)
|
rs143017410
|
0.00329
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)
|
rs371421350
|
0.00329
|
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu)
|
rs34843786
|
0.00328
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00328
|
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser)
|
rs145714368
|
0.00328
|
NM_024596.5(MCPH1):c.477A>T (p.Ser159=)
|
rs41313948
|
0.00328
|
NM_057176.3(BSND):c.459C>T (p.Asp153=)
|
rs138974602
|
0.00328
|
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=)
|
rs148902254
|
0.00327
|
NM_002087.4(GRN):c.545C>T (p.Thr182Met)
|
rs63750479
|
0.00327
|
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys)
|
rs201346452
|
0.00327
|
NC_000007.14:g.129774734A>G
|
rs41274239
|
0.00326
|
NM_001244008.2(KIF1A):c.3202+10C>A
|
rs190997558
|
0.00326
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=)
|
rs200006106
|
0.00326
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
NM_001005361.3(DNM2):c.519T>C (p.Ala173=)
|
rs77702567
|
0.00325
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
NM_001271.4(CHD2):c.4138-6T>C
|
rs182330071
|
0.00325
|
NM_001278064.2(GRM1):c.3206C>T (p.Pro1069Leu)
|
rs79336287
|
0.00325
|
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=)
|
rs151080601
|
0.00325
|
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=)
|
rs35106977
|
0.00325
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_001244008.2(KIF1A):c.183+7C>T
|
rs74469870
|
0.00324
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00323
|
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)
|
rs78540316
|
0.00323
|
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)
|
rs144007962
|
0.00323
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00322
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)
|
rs146682319
|
0.00321
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00320
|
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)
|
rs549394447
|
0.00320
|
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)
|
rs148193087
|
0.00320
|
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=)
|
rs59090452
|
0.00320
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00319
|
NM_005045.4(RELN):c.565C>T (p.His189Tyr)
|
rs115806540
|
0.00319
|
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=)
|
rs146915189
|
0.00319
|
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys)
|
rs115088000
|
0.00319
|
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala)
|
rs115786671
|
0.00319
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00318
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00318
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_004172.5(SLC1A3):c.69T>A (p.Arg23=)
|
rs140080134
|
0.00318
|
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)
|
rs112387277
|
0.00317
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_002693.3(POLG):c.134A>G (p.Gln45Arg)
|
rs201016638
|
0.00316
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=)
|
rs61742545
|
0.00315
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_002693.3(POLG):c.852C>T (p.Ile284=)
|
rs41540414
|
0.00315
|
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val)
|
rs61749238
|
0.00315
|
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)
|
rs115954396
|
0.00315
|
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser)
|
rs148451013
|
0.00314
|
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=)
|
rs190603219
|
0.00314
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00314
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00313
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00313
|
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=)
|
rs11538140
|
0.00313
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)
|
rs76794400
|
0.00313
|
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg)
|
rs184879368
|
0.00313
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00312
|
NM_000085.5(CLCNKB):c.1409-6T>C
|
rs115910575
|
0.00312
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)
|
rs11552531
|
0.00312
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00312
|
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)
|
rs34967349
|
0.00312
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_000336.3(SCNN1B):c.777-5T>C
|
rs61759915
|
0.00311
|
NM_006790.3(MYOT):c.1190+7T>C
|
rs192405601
|
0.00311
|
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)
|
rs139528613
|
0.00310
|
NM_002087.4(GRN):c.546G>A (p.Thr182=)
|
rs138473783
|
0.00310
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00310
|
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser)
|
rs144455066
|
0.00310
|
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser)
|
rs13312793
|
0.00310
|
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
|
rs149171782
|
0.00310
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys)
|
rs34758634
|
0.00308
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)
|
rs144376972
|
0.00308
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00307
|
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)
|
rs35579821
|
0.00306
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=)
|
rs139528715
|
0.00306
|
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)
|
rs142066316
|
0.00306
|
NM_004320.6(ATP2A1):c.1974C>T (p.Phe658=)
|
rs61626938
|
0.00306
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00305
|
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_000370.3(TTPA):c.664-4T>G
|
rs2045224
|
0.00304
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00304
|
NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg)
|
rs199836125
|
0.00304
|
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=)
|
rs2228348
|
0.00304
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00303
|
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg)
|
rs148851677
|
0.00303
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00302
|
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=)
|
rs113020870
|
0.00302
|
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)
|
rs150388417
|
0.00301
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00301
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00300
|
NM_005045.4(RELN):c.7086C>T (p.Thr2362=)
|
rs362747
|
0.00300
|
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=)
|
rs77789547
|
0.00300
|
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys)
|
rs187484645
|
0.00299
|
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile)
|
rs149752009
|
0.00299
|
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)
|
rs114755364
|
0.00299
|
NM_020361.5(CPA6):c.975A>G (p.Ala325=)
|
rs138313759
|
0.00299
|
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)
|
rs28365117
|
0.00299
|
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)
|
rs142013761
|
0.00299
|
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)
|
rs116446814
|
0.00299
|
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=)
|
rs143339401
|
0.00298
|
NM_000144.5(FXN):c.626A>G (p.Asp209Gly)
|
rs74621026
|
0.00298
|
NM_000426.4(LAMA2):c.675C>T (p.Ala225=)
|
rs139665175
|
0.00298
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)
|
rs150979437
|
0.00297
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00297
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00296
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00296
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00295
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00294
|
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=)
|
rs183742506
|
0.00293
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)
|
rs188517529
|
0.00293
|
NM_002296.4(LBR):c.995C>T (p.Ala332Val)
|
rs141647564
|
0.00293
|
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)
|
rs116679717
|
0.00293
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00293
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile)
|
rs146004831
|
0.00293
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)
|
rs61730366
|
0.00292
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00292
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)
|
rs146310692
|
0.00291
|
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=)
|
rs113299143
|
0.00291
|
NM_005529.7(HSPG2):c.9514-3C>T
|
rs114851424
|
0.00291
|
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)
|
rs778160013
|
0.00291
|
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)
|
rs143313706
|
0.00291
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=)
|
rs139793443
|
0.00290
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458
|
0.00290
|
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=)
|
rs73424033
|
0.00289
|
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=)
|
rs35946460
|
0.00289
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
NM_182914.3(SYNE2):c.20596C>T (p.Leu6866=)
|
rs141474837
|
0.00289
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=)
|
rs145020302
|
0.00287
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
NM_001128228.3(TPRN):c.162C>A (p.Gly54=)
|
rs562167855
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001614.5(ACTG1):c.714G>A (p.Lys238=)
|
rs11549173
|
0.00287
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00287
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00287
|
NM_004977.3(KCNC3):c.1404C>T (p.Tyr468=)
|
rs35578310
|
0.00287
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
NM_005445.4(SMC3):c.255A>G (p.Ser85=)
|
rs146433240
|
0.00287
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00287
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)
|
rs72648931
|
0.00286
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00285
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_000142.5(FGFR3):c.393G>A (p.Ser131=)
|
rs55662109
|
0.00284
|
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala)
|
rs2099130
|
0.00284
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00284
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00284
|
NM_005591.4(MRE11):c.1783+5G>C
|
rs142082313
|
0.00284
|
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)
|
rs147034750
|
0.00284
|
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)
|
rs41261344
|
0.00283
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00283
|
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His)
|
rs41311989
|
0.00283
|
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=)
|
rs75469773
|
0.00283
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00282
|
NM_198576.4(AGRN):c.2067G>A (p.Gln689=)
|
rs139886237
|
0.00282
|
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)
|
rs148291156
|
0.00281
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_198576.4(AGRN):c.1434G>A (p.Thr478=)
|
rs147346337
|
0.00281
|
NM_000217.3(KCNA1):c.237G>A (p.Glu79=)
|
rs149110871
|
0.00280
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00280
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00279
|
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419
|
0.00278
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
NM_001040142.2(SCN2A):c.387-10G>A
|
rs2304015
|
0.00277
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00277
|
NM_001278064.2(GRM1):c.922G>A (p.Val308Ile)
|
rs112915383
|
0.00277
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00277
|
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)
|
rs138859323
|
0.00277
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00277
|
NM_014625.4(NPHS2):c.447C>T (p.Gly149=)
|
rs139111416
|
0.00276
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00276
|
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=)
|
rs147402839
|
0.00276
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00275
|
NM_004924.6(ACTN4):c.978G>A (p.Gln326=)
|
rs117392350
|
0.00275
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
0.00274
|
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)
|
rs151150677
|
0.00274
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
NM_006158.5(NEFL):c.584C>T (p.Ala195Val)
|
rs185200977
|
0.00274
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00274
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00274
|
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met)
|
rs149948290
|
0.00274
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
NM_000238.4(KCNH2):c.621C>T (p.Ser207=)
|
rs41314417
|
0.00273
|
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro)
|
rs116105264
|
0.00273
|
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)
|
rs150357327
|
0.00272
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)
|
rs111033483
|
0.00272
|
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=)
|
rs149951387
|
0.00271
|
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
|
rs200957609
|
0.00271
|
NM_000079.4(CHRNA1):c.-8G>A
|
rs138563328
|
0.00270
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00270
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00270
|
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu)
|
rs149027682
|
0.00270
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly)
|
rs183111586
|
0.00270
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)
|
rs147131452
|
0.00268
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00268
|
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_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00267
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00267
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00266
|
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)
|
rs140350441
|
0.00265
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)
|
rs139001173
|
0.00265
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00265
|
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=)
|
rs34761049
|
0.00264
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00264
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
NM_002303.6(LEPR):c.36T>C (p.His12=)
|
rs147768538
|
0.00264
|
NM_004526.4(MCM2):c.1501G>A (p.Gly501Arg)
|
rs13087457
|
0.00264
|
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=)
|
rs112483670
|
0.00264
|
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=)
|
rs115076664
|
0.00264
|
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)
|
rs188485743
|
0.00264
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00264
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00263
|
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)
|
rs202102758
|
0.00263
|
NM_025243.4(SLC19A3):c.546G>A (p.Val182=)
|
rs143188189
|
0.00263
|
NM_181882.3(PRX):c.3846G>A (p.Ser1282=)
|
rs143289108
|
0.00263
|
NM_000193.4(SHH):c.570G>A (p.Ser190=)
|
rs9333633
|
0.00262
|
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760
|
0.00262
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=)
|
rs148743086
|
0.00262
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00261
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00261
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00261
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00261
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00261
|
NM_021098.3(CACNA1H):c.3846-10G>A
|
rs377030217
|
0.00260
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00259
|
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669
|
0.00259
|
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)
|
rs143981992
|
0.00259
|
NM_018136.5(ASPM):c.9444+8T>G
|
rs140150599
|
0.00259
|
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)
|
rs147274045
|
0.00259
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)
|
rs143577015
|
0.00258
|
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)
|
rs149185431
|
0.00258
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_013382.7(POMT2):c.924-10C>T
|
rs142122657
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=)
|
rs200639109
|
0.00257
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00257
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00256
|
NM_001136472.2(LITAF):c.333C>T (p.Ala111=)
|
rs34448402
|
0.00256
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00255
|
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=)
|
rs114046098
|
0.00255
|
NM_014363.6(SACS):c.2721G>A (p.Leu907=)
|
rs140118958
|
0.00255
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00255
|
NM_001256545.2(MEGF10):c.1002C>T (p.His334=)
|
rs142947482
|
0.00254
|
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)
|
rs41292388
|
0.00254
|
NM_005422.4(TECTA):c.972G>C (p.Val324=)
|
rs147790742
|
0.00254
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys)
|
rs115379510
|
0.00253
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00253
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490
|
0.00252
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00252
|
NM_198578.4(LRRK2):c.5510-9A>G
|
rs41286460
|
0.00252
|
NM_000454.5(SOD1):c.*2C>T
|
rs1804447
|
0.00251
|
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)
|
rs143157673
|
0.00251
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile)
|
rs112095333
|
0.00250
|
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)
|
rs139575917
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)
|
rs35512910
|
0.00250
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_020247.5(COQ8A):c.384C>T (p.Ala128=)
|
rs139970507
|
0.00250
|
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=)
|
rs147306123
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)
|
rs147755372
|
0.00249
|
NM_004393.6(DAG1):c.1233G>A (p.Val411=)
|
rs145765079
|
0.00249
|
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)
|
rs140041506
|
0.00248
|
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933
|
0.00248
|
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)
|
rs61729932
|
0.00248
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00247
|
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser)
|
rs139491817
|
0.00246
|
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile)
|
rs115928999
|
0.00246
|
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=)
|
rs368781046
|
0.00246
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00245
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp)
|
rs61759484
|
0.00245
|
NM_005591.4(MRE11):c.969A>G (p.Pro323=)
|
rs13447633
|
0.00245
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00245
|
NM_018075.5(ANO10):c.1915-5816C>A
|
rs146629436
|
0.00245
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00244
|
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp)
|
rs139838162
|
0.00244
|
NM_004782.4(SNAP29):c.234C>G (p.Ser78=)
|
rs144160898
|
0.00244
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00243
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00242
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=)
|
rs141018126
|
0.00242
|
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu)
|
rs150075912
|
0.00242
|
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
|
rs143937661
|
0.00242
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518
|
0.00241
|
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu)
|
rs192195094
|
0.00240
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln)
|
rs143848095
|
0.00240
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00240
|
NM_018109.4(MTPAP):c.585G>A (p.Lys195=)
|
rs144945655
|
0.00240
|
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=)
|
rs142190930
|
0.00240
|
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=)
|
rs11568546
|
0.00240
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00239
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00239
|
NM_000726.5(CACNB4):c.655A>G (p.Met219Val)
|
rs201870832
|
0.00239
|
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys)
|
rs151273972
|
0.00239
|
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)
|
rs144765752
|
0.00239
|
NM_002578.5(PAK3):c.531G>A (p.Glu177=)
|
rs56270341
|
0.00239
|
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=)
|
rs150080880
|
0.00239
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=)
|
rs202085637
|
0.00238
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_198994.3(TGM6):c.146A>T (p.Asp49Val)
|
rs12106280
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000545.8(HNF1A):c.*5G>A
|
rs112986697
|
0.00237
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00237
|
NM_024411.5(PDYN):c.121A>G (p.Asn41Asp)
|
rs59191035
|
0.00237
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_001278064.2(GRM1):c.2859C>T (p.Thr953=)
|
rs116471335
|
0.00236
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00236
|
NM_006383.4(CIB2):c.462G>A (p.Glu154=)
|
rs117153558
|
0.00236
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_015346.4(ZFYVE26):c.7417-5G>C
|
rs201771769
|
0.00236
|
NM_018941.4(CLN8):c.290G>A (p.Arg97His)
|
rs116605307
|
0.00236
|
NM_032119.4(ADGRV1):c.22+9T>C
|
rs368604803
|
0.00236
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=)
|
rs138826759
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_001042492.3(NF1):c.655-29T>C
|
rs182325576
|
0.00234
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)
|
rs61752766
|
0.00233
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00233
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00233
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=)
|
rs145589373
|
0.00232
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00232
|
NM_021098.3(CACNA1H):c.*10T>A
|
rs59336915
|
0.00232
|
NM_031443.4(CCM2):c.804-5C>T
|
rs145003686
|
0.00232
|
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)
|
rs138769395
|
0.00232
|
NM_201384.3(PLEC):c.1956C>T (p.Thr652=)
|
rs201835507
|
0.00232
|
NM_000083.3(CLCN1):c.86A>C (p.His29Pro)
|
rs146160029
|
0.00231
|
NM_000337.6(SGCD):c.*2A>C
|
rs200757725
|
0.00231
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)
|
rs201089795
|
0.00231
|
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln)
|
rs139573483
|
0.00231
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00231
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=)
|
rs144566433
|
0.00230
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00230
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00230
|
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly)
|
rs151022876
|
0.00230
|
NM_000162.5(GCK):c.483+14A>G
|
rs74852379
|
0.00229
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_003179.3(SYP):c.687C>T (p.Ala229=)
|
rs201427270
|
0.00229
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00229
|
NM_020247.5(COQ8A):c.948C>T (p.Leu316=)
|
rs55637780
|
0.00229
|
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=)
|
rs138440449
|
0.00229
|
NM_000238.4(KCNH2):c.558C>T (p.Gly186=)
|
rs139533994
|
0.00228
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
NM_004393.6(DAG1):c.2036G>A (p.Arg679His)
|
rs113904914
|
0.00227
|
NM_024577.4(SH3TC2):c.3479-8A>G
|
rs147800229
|
0.00227
|
NM_001379180.1(ESRRB):c.1120+8C>T
|
rs373429794
|
0.00226
|
NM_001379200.1(TBX1):c.519G>A (p.Pro173=)
|
rs111754814
|
0.00226
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)
|
rs111227648
|
0.00226
|
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)
|
rs34066624
|
0.00225
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00225
|
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)
|
rs187810230
|
0.00225
|
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)
|
rs61755436
|
0.00225
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=)
|
rs368555478
|
0.00225
|
NM_000400.4(ERCC2):c.699C>T (p.Phe233=)
|
rs141816180
|
0.00224
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00224
|
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser)
|
rs143026295
|
0.00224
|
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=)
|
rs199526404
|
0.00224
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00224
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
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_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00223
|
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile)
|
rs34338511
|
0.00222
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00222
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)
|
rs189541861
|
0.00222
|
NM_004984.4(KIF5A):c.1293+9G>A
|
rs201749114
|
0.00222
|
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)
|
rs34214251
|
0.00222
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00222
|
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)
|
rs573483617
|
0.00221
|
NM_006158.5(NEFL):c.855C>T (p.Thr285=)
|
rs1065083
|
0.00221
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00221
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_000426.4(LAMA2):c.6429+8C>A
|
rs199773264
|
0.00220
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00220
|
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=)
|
rs145210051
|
0.00220
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00220
|
NM_002529.4(NTRK1):c.254G>A (p.Arg85His)
|
rs79678945
|
0.00220
|
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)
|
rs199547661
|
0.00220
|
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)
|
rs137921473
|
0.00220
|
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)
|
rs76327447
|
0.00220
|
NM_020247.5(COQ8A):c.618G>A (p.Val206=)
|
rs115855910
|
0.00220
|
NM_024306.5(FA2H):c.847G>A (p.Val283Ile)
|
rs138244546
|
0.00220
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=)
|
rs370656151
|
0.00219
|
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=)
|
rs2290499
|
0.00219
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00219
|
NM_001059.3(TACR3):c.1344C>T (p.Ser448=)
|
rs76121575
|
0.00218
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00218
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_003680.4(YARS1):c.52C>T (p.Leu18=)
|
rs147538442
|
0.00218
|
NM_017780.4(CHD7):c.1536A>G (p.Pro512=)
|
rs148577619
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=)
|
rs118175551
|
0.00217
|
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=)
|
rs61744333
|
0.00217
|
NM_001267550.2(TTN):c.1068G>A (p.Glu356=)
|
rs144716589
|
0.00217
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00217
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn)
|
rs17855116
|
0.00217
|
NM_182914.3(SYNE2):c.6880-5C>T
|
rs187173455
|
0.00217
|
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)
|
rs145195048
|
0.00217
|
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)
|
rs140963173
|
0.00217
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00216
|
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)
|
rs201060500
|
0.00216
|
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280
|
0.00216
|
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)
|
rs149546633
|
0.00216
|
NM_024334.3(TMEM43):c.*8C>T
|
rs192707412
|
0.00216
|
NM_000451.4(SHOX):c.864G>A (p.Glu288=)
|
rs781656634
|
0.00215
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=)
|
rs61759480
|
0.00215
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_201384.3(PLEC):c.112+3A>G
|
rs191308779
|
0.00215
|
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=)
|
rs141993521
|
0.00214
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00214
|
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)
|
rs190209925
|
0.00214
|
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)
|
rs151083690
|
0.00214
|
NM_002160.4(TNC):c.945C>T (p.Cys315=)
|
rs148465701
|
0.00214
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
NM_000540.3(RYR1):c.216G>T (p.Leu72=)
|
rs113389877
|
0.00213
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00213
|
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)
|
rs146834675
|
0.00213
|
NM_001127222.2(CACNA1A):c.1345+7C>T
|
rs192536793
|
0.00213
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=)
|
rs144016931
|
0.00213
|
NM_000334.4(SCN4A):c.1100+7G>A
|
rs200770684
|
0.00212
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00212
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
0.00211
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00211
|
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)
|
rs777868371
|
0.00211
|
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=)
|
rs150723240
|
0.00210
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)
|
rs113168860
|
0.00210
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00210
|
NM_004637.6(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751
|
0.00210
|
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)
|
rs199823175
|
0.00210
|
NM_014141.6(CNTNAP2):c.551-11T>G
|
rs78223661
|
0.00210
|
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu)
|
rs149718424
|
0.00210
|
NM_020549.5(CHAT):c.438C>T (p.Tyr146=)
|
rs61731734
|
0.00210
|
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln)
|
rs151001222
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)
|
rs144049904
|
0.00209
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
|
rs75221202
|
0.00208
|
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)
|
rs541251697
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_000335.5(SCN5A):c.354C>T (p.His118=)
|
rs45533640
|
0.00207
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00207
|
NM_002775.5(HTRA1):c.879C>T (p.Thr293=)
|
rs149294320
|
0.00207
|
NM_005422.4(TECTA):c.1812C>T (p.Ser604=)
|
rs138914618
|
0.00207
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00206
|
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=)
|
rs141886903
|
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_001377265.1(MAPT):c.2091+29G>A
|
rs63751443
|
0.00206
|
NM_006946.4(SPTBN2):c.1221C>T (p.His407=)
|
rs143596433
|
0.00206
|
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)
|
rs376365984
|
0.00206
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00205
|
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=)
|
rs140697524
|
0.00205
|
NM_004526.4(MCM2):c.759G>A (p.Ala253=)
|
rs35749886
|
0.00205
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=)
|
rs147176678
|
0.00205
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00204
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00204
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00204
|
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)
|
rs140528529
|
0.00203
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00203
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=)
|
rs150392453
|
0.00202
|
NM_001267550.2(TTN):c.289G>A (p.Val97Met)
|
rs185921345
|
0.00202
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280
|
0.00202
|
NM_000054.7(AVPR2):c.740G>A (p.Arg247His)
|
rs149668713
|
0.00201
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)
|
rs77154172
|
0.00201
|
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
|
rs191971593
|
0.00201
|
NM_015295.3(SMCHD1):c.1956+7C>T
|
rs145755468
|
0.00201
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00201
|
NM_033337.3(CAV3):c.-1G>A
|
rs74377241
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00200
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00200
|
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)
|
rs149371169
|
0.00200
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe)
|
rs149812437
|
0.00200
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00200
|
NM_001378452.1(ITPR1):c.1886+7C>T
|
rs181465598
|
0.00200
|
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)
|
rs115834242
|
0.00200
|
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)
|
rs138635817
|
0.00200
|
NM_015340.4(LARS2):c.1692C>T (p.Ala564=)
|
rs149911756
|
0.00200
|
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)
|
rs116836855
|
0.00200
|
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=)
|
rs75158917
|
0.00199
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00199
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00199
|
NM_182914.3(SYNE2):c.18039-5T>A
|
rs189611387
|
0.00199
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00198
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)
|
rs141625803
|
0.00198
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00198
|
NM_002396.5(ME2):c.629T>C (p.Ile210Thr)
|
rs142990108
|
0.00198
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_152743.4(BRAT1):c.1659C>T (p.Leu553=)
|
rs61746940
|
0.00198
|
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln)
|
rs138077616
|
0.00198
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
0.00197
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00197
|
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
|
rs138762270
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00197
|
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279
|
0.00196
|
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu)
|
rs189199944
|
0.00196
|
NM_004960.4(FUS):c.273C>T (p.Tyr91=)
|
rs73530286
|
0.00196
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00196
|
NM_021072.4(HCN1):c.1783+4C>T
|
rs188586020
|
0.00196
|
NM_054027.6(ANKH):c.102G>A (p.Leu34=)
|
rs116591972
|
0.00196
|
NM_201525.4(ADGRG1):c.1017+8G>A
|
rs186479054
|
0.00196
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00195
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00195
|
NM_001145026.2(PTPRQ):c.1710C>T (p.Ser570=)
|
rs140978858
|
0.00195
|
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)
|
rs568554504
|
0.00195
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=)
|
rs200369026
|
0.00195
|
NM_006790.3(MYOT):c.822T>C (p.Ser274=)
|
rs138678049
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_000142.5(FGFR3):c.*5C>G
|
rs17879364
|
0.00194
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
0.00194
|
NM_000388.4(CASR):c.2730C>A (p.Pro910=)
|
rs34200949
|
0.00194
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00194
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00194
|
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)
|
rs57105517
|
0.00194
|
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=)
|
rs144843013
|
0.00194
|
NM_182961.4(SYNE1):c.23461-6A>C
|
rs145098375
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
NM_016373.4(WWOX):c.1197G>A (p.Ala399=)
|
rs376935572
|
0.00193
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
NM_000083.3(CLCN1):c.2509-3C>T
|
rs375341574
|
0.00192
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)
|
rs75593857
|
0.00192
|
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)
|
rs17838192
|
0.00192
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00192
|
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)
|
rs141944844
|
0.00192
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00191
|
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)
|
rs79720149
|
0.00191
|
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)
|
rs141304687
|
0.00191
|
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892
|
0.00191
|
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)
|
rs140017632
|
0.00191
|
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)
|
rs149278319
|
0.00191
|
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=)
|
rs138264334
|
0.00191
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=)
|
rs143253425
|
0.00190
|
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)
|
rs144015992
|
0.00190
|
NM_016239.4(MYO15A):c.8811C>T (p.His2937=)
|
rs200583193
|
0.00190
|
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)
|
rs116426399
|
0.00189
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00189
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00188
|
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn)
|
rs144327167
|
0.00188
|
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)
|
rs28565126
|
0.00188
|
NM_002303.6(LEPR):c.1604-16T>C
|
rs143936245
|
0.00188
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00188
|
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199
|
0.00188
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00188
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
NM_002473.6(MYH9):c.165C>T (p.Ile55=)
|
rs141948797
|
0.00187
|
NM_005859.5(PURA):c.321C>T (p.Ala107=)
|
rs149139260
|
0.00187
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00187
|
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=)
|
rs145861898
|
0.00187
|
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys)
|
rs117664682
|
0.00186
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00186
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00186
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00186
|
NM_014874.4(MFN2):c.408A>T (p.Val136=)
|
rs78814413
|
0.00186
|
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=)
|
rs143733790
|
0.00186
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00185
|
NM_000426.4(LAMA2):c.2430A>C (p.Pro810=)
|
rs147572139
|
0.00185
|
NM_001009944.3(PKD1):c.5307T>C (p.His1769=)
|
rs575064371
|
0.00185
|
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val)
|
rs189463989
|
0.00185
|
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)
|
rs201006742
|
0.00185
|
NM_005045.4(RELN):c.1377G>A (p.Arg459=)
|
rs73712207
|
0.00185
|
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)
|
rs141521745
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_000091.5(COL4A3):c.3566-9T>C
|
rs147886850
|
0.00184
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00184
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00184
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00183
|
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=)
|
rs142277193
|
0.00183
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00183
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00183
|
NM_176787.5(PIGN):c.2751G>T (p.Thr917=)
|
rs200481058
|
0.00183
|
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys)
|
rs187338487
|
0.00183
|
NM_201384.3(PLEC):c.7356C>T (p.Ile2452=)
|
rs199958797
|
0.00183
|
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)
|
rs368850131
|
0.00183
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00182
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00182
|
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)
|
rs149571533
|
0.00182
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00182
|
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu)
|
rs9311404
|
0.00182
|
NM_017882.3(CLN6):c.840G>A (p.Leu280=)
|
rs148949069
|
0.00182
|
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)
|
rs140048110
|
0.00182
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00182
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00182
|
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)
|
rs146512619
|
0.00181
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00181
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00181
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00180
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00180
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00180
|
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr)
|
rs143624519
|
0.00180
|
NM_001378030.1(CCDC78):c.492+1G>A
|
rs138669350
|
0.00180
|
NM_001378030.1(CCDC78):c.737G>A (p.Arg246Gln)
|
rs147606575
|
0.00180
|
NM_001386393.1(PANK2):c.960T>C (p.Thr320=)
|
rs149583615
|
0.00180
|
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)
|
rs41275090
|
0.00180
|
NM_018075.5(ANO10):c.1954A>G (p.Met652Val)
|
rs147989825
|
0.00180
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00180
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00180
|
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val)
|
rs142000273
|
0.00180
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_000722.4(CACNA2D1):c.2837-7A>G
|
rs112176710
|
0.00179
|
NM_001146262.4(SYT14):c.408T>C (p.Tyr136=)
|
rs71515148
|
0.00179
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)
|
rs147788838
|
0.00178
|
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)
|
rs143944746
|
0.00178
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00178
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00178
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp)
|
rs145764886
|
0.00177
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00177
|
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)
|
rs139279302
|
0.00177
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00177
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00176
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00176
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00176
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)
|
rs140279996
|
0.00175
|
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)
|
rs186881889
|
0.00175
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00175
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00175
|
NM_005529.7(HSPG2):c.959-5C>T
|
rs149574138
|
0.00175
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00175
|
NM_181458.4(PAX3):c.586+57A>G
|
rs202175449
|
0.00175
|
NM_198994.3(TGM6):c.502G>A (p.Val168Met)
|
rs147494925
|
0.00175
|
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=)
|
rs148831568
|
0.00174
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00174
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
|
rs114630202
|
0.00174
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00174
|
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=)
|
rs371271326
|
0.00174
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00173
|
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val)
|
rs143511445
|
0.00173
|
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=)
|
rs142822908
|
0.00173
|
NM_001378030.1(CCDC78):c.953+10G>A
|
rs79863898
|
0.00173
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00173
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_002906.4(RDX):c.1487C>T (p.Ala496Val)
|
rs74983220
|
0.00173
|
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro)
|
rs150573158
|
0.00173
|
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=)
|
rs138628147
|
0.00173
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00172
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00172
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00172
|
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)
|
rs200405805
|
0.00172
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00171
|
NM_001178015.2(SLC4A10):c.3166C>G (p.Gln1056Glu)
|
rs142943771
|
0.00171
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00171
|
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile)
|
rs138460117
|
0.00171
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00171
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00171
|
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=)
|
rs144939155
|
0.00171
|
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)
|
rs141835897
|
0.00171
|
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)
|
rs73619386
|
0.00171
|
NM_001540.5(HSPB1):c.573T>C (p.Leu191=)
|
rs34771861
|
0.00170
|
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)
|
rs143954823
|
0.00170
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00170
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
|
rs146398746
|
0.00170
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys)
|
rs138205828
|
0.00169
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00169
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)
|
rs141476432
|
0.00168
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00168
|
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met)
|
rs145476116
|
0.00168
|
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=)
|
rs35463342
|
0.00168
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_014874.4(MFN2):c.663T>C (p.Asp221=)
|
rs116504054
|
0.00168
|
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)
|
rs142096969
|
0.00168
|
NM_020919.4(ALS2):c.3309T>C (p.His1103=)
|
rs201920363
|
0.00167
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00166
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00166
|
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)
|
rs76092524
|
0.00166
|
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)
|
rs142841538
|
0.00166
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00166
|
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)
|
rs146263125
|
0.00166
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_024301.5(FKRP):c.1179A>G (p.Val393=)
|
rs145894568
|
0.00166
|
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=)
|
rs373069459
|
0.00166
|
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro)
|
rs111902869
|
0.00166
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_015087.5(SPART):c.1155T>G (p.Arg385=)
|
rs140222511
|
0.00165
|
NM_198994.3(TGM6):c.2052G>A (p.Val684=)
|
rs149369357
|
0.00165
|
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=)
|
rs35370566
|
0.00164
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00164
|
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)
|
rs59052554
|
0.00164
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00163
|
NM_006493.4(CLN5):c.705G>A (p.Val235=)
|
rs116531784
|
0.00163
|
NM_018429.3(BDP1):c.4578A>G (p.Ser1526=)
|
rs199669834
|
0.00163
|
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val)
|
rs150589796
|
0.00163
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00162
|
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=)
|
rs137925121
|
0.00162
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
NM_001293298.2(CEMIP):c.3625C>T (p.His1209Tyr)
|
rs140790232
|
0.00162
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270
|
0.00161
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00161
|
NM_021625.5(TRPV4):c.57C>T (p.Pro19=)
|
rs112408790
|
0.00161
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00161
|
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=)
|
rs147232928
|
0.00161
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)
|
rs41290704
|
0.00160
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00160
|
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser)
|
rs150545495
|
0.00160
|
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)
|
rs138423302
|
0.00159
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00159
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00159
|
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)
|
rs145274257
|
0.00159
|
NM_002160.4(TNC):c.628G>A (p.Gly210Ser)
|
rs144032672
|
0.00159
|
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=)
|
rs35450949
|
0.00159
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_032737.4(LMNB2):c.804C>T (p.Asp268=)
|
rs150969746
|
0.00159
|
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro)
|
rs147168661
|
0.00159
|
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=)
|
rs61753093
|
0.00159
|
NM_000110.4(DPYD):c.2180-3T>C
|
rs74104343
|
0.00158
|
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala)
|
rs143764521
|
0.00158
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00158
|
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)
|
rs146588608
|
0.00158
|
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)
|
rs190470017
|
0.00158
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00158
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00157
|
NM_000391.4(TPP1):c.1497T>C (p.Pro499=)
|
rs142672910
|
0.00157
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00157
|
NM_015340.4(LARS2):c.255C>T (p.Tyr85=)
|
rs114881088
|
0.00157
|
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)
|
rs138698439
|
0.00157
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00157
|
NM_018451.5(CPAP):c.175A>G (p.Thr59Ala)
|
rs138732534
|
0.00157
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00157
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00157
|
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser)
|
rs190582637
|
0.00157
|
NM_201384.3(PLEC):c.2458-8C>T
|
rs201818691
|
0.00157
|
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)
|
rs144574076
|
0.00156
|
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn)
|
rs142373563
|
0.00156
|
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)
|
rs140063111
|
0.00156
|
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)
|
rs138175526
|
0.00156
|
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844
|
0.00155
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00155
|
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)
|
rs139799727
|
0.00154
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His)
|
rs201043388
|
0.00154
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=)
|
rs141215137
|
0.00153
|
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)
|
rs148852027
|
0.00153
|
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)
|
rs144051476
|
0.00153
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00153
|
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
0.00153
|
NM_015295.3(SMCHD1):c.2913+6C>G
|
rs186678728
|
0.00153
|
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)
|
rs150696959
|
0.00153
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00153
|
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)
|
rs200239963
|
0.00153
|
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)
|
rs200895343
|
0.00153
|
NM_000533.5(PLP1):c.-31C>T
|
rs2233695
|
0.00152
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00152
|
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)
|
rs147984237
|
0.00152
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)
|
rs146307965
|
0.00152
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00151
|
NM_001083961.2(WDR62):c.253G>A (p.Val85Met)
|
rs146274964
|
0.00151
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00151
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00151
|
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)
|
rs114945876
|
0.00151
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00151
|
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=)
|
rs199866902
|
0.00151
|
NM_000533.5(PLP1):c.168A>G (p.Gln56=)
|
rs2233697
|
0.00150
|
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
|
rs144593342
|
0.00150
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00150
|
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)
|
rs71578935
|
0.00150
|
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)
|
rs146205997
|
0.00150
|
NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp)
|
rs148377014
|
0.00150
|
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)
|
rs72552033
|
0.00150
|
NM_022489.4(INF2):c.264C>T (p.Gly88=)
|
rs201587219
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_201384.3(PLEC):c.3543C>T (p.Val1181=)
|
rs202185399
|
0.00150
|
NM_004115.4(FGF14):c.636T>C (p.His212=)
|
rs41281644
|
0.00149
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00149
|
NM_022489.4(INF2):c.558C>T (p.Ser186=)
|
rs150714865
|
0.00149
|
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)
|
rs140719871
|
0.00149
|
NM_201525.4(ADGRG1):c.1287-28G>C
|
rs60624815
|
0.00149
|
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=)
|
rs140191388
|
0.00148
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00148
|
NM_001378452.1(ITPR1):c.2007-3T>C
|
rs200335594
|
0.00148
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00148
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00148
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00147
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_024577.4(SH3TC2):c.1177+10G>A
|
rs139257109
|
0.00147
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_153033.5(KCTD7):c.384G>A (p.Glu128=)
|
rs145238250
|
0.00147
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00146
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_001961.4(EEF2):c.1549C>T (p.Leu517=)
|
rs148099639
|
0.00146
|
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=)
|
rs186426892
|
0.00146
|
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser)
|
rs202040785
|
0.00146
|
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys)
|
rs199661077
|
0.00146
|
NM_000083.3(CLCN1):c.651C>T (p.Val217=)
|
rs144109732
|
0.00145
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00145
|
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)
|
rs533569454
|
0.00144
|
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898
|
0.00144
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val)
|
rs372632879
|
0.00144
|
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386
|
0.00144
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=)
|
rs200444977
|
0.00144
|
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser)
|
rs142790440
|
0.00143
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004315.6(ASAH1):c.108_114del (p.Ser36fs)
|
rs548868946
|
0.00143
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00143
|
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=)
|
rs141270350
|
0.00143
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00143
|
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=)
|
rs200273549
|
0.00143
|
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)
|
rs201574539
|
0.00143
|
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=)
|
rs150015583
|
0.00142
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)
|
rs80027401
|
0.00141
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00141
|
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)
|
rs150692587
|
0.00141
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00141
|
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=)
|
rs56043893
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=)
|
rs183401234
|
0.00141
|
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)
|
rs201655861
|
0.00141
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
NM_000540.3(RYR1):c.11141+7A>G
|
rs78350770
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001378452.1(ITPR1):c.5889C>T (p.Asp1963=)
|
rs377489220
|
0.00140
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00140
|
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
|
rs115444936
|
0.00140
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)
|
rs104894483
|
0.00140
|
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)
|
rs141575580
|
0.00139
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00139
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00139
|
NM_002693.3(POLG):c.1890C>T (p.Asn630=)
|
rs148658588
|
0.00139
|
NM_014846.4(WASHC5):c.*3del
|
rs569426560
|
0.00139
|
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)
|
rs143945573
|
0.00139
|
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=)
|
rs376598183
|
0.00138
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00138
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
0.00138
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00138
|
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)
|
rs55833708
|
0.00138
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)
|
rs33995463
|
0.00138
|
NM_000088.4(COL1A1):c.2236-17C>G
|
rs193922146
|
0.00137
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=)
|
rs145322467
|
0.00137
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)
|
rs182411153
|
0.00137
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00137
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00137
|
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)
|
rs35240149
|
0.00136
|
NM_000352.6(ABCC8):c.822+20C>T
|
rs181998151
|
0.00136
|
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)
|
rs146028040
|
0.00136
|
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=)
|
rs199536020
|
0.00136
|
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=)
|
rs143914980
|
0.00136
|
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
|
rs200248561
|
0.00136
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
NM_000484.4(APP):c.1795G>A (p.Glu599Lys)
|
rs140304729
|
0.00135
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00135
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
0.00135
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00135
|
NM_032193.4(RNASEH2C):c.-10A>G
|
rs77371161
|
0.00135
|
NM_173500.4(TTBK2):c.1105C>T (p.Pro369Ser)
|
rs202237707
|
0.00135
|
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
|
rs149561221
|
0.00134
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)
|
rs201148948
|
0.00134
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00134
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)
|
rs141315921
|
0.00134
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
NM_000334.4(SCN4A):c.2854-5C>T
|
rs374039266
|
0.00133
|
NM_000540.3(RYR1):c.7615-7G>A
|
rs146159174
|
0.00133
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00133
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
NM_001367561.1(DOCK7):c.125A>G (p.Asn42Ser)
|
rs143701798
|
0.00133
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
NM_014053.4(FLVCR1):c.738+9T>C
|
rs41296696
|
0.00133
|
NM_017882.3(CLN6):c.339G>A (p.Thr113=)
|
rs146135801
|
0.00133
|
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)
|
rs151050191
|
0.00133
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00133
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00133
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)
|
rs144408326
|
0.00132
|
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)
|
rs187011732
|
0.00132
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00131
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00131
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00131
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
NM_001244008.2(KIF1A):c.2445-8C>T
|
rs200705912
|
0.00131
|
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=)
|
rs144708625
|
0.00131
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys)
|
rs61755731
|
0.00131
|
NM_002156.5(HSPD1):c.700+8C>T
|
rs185384719
|
0.00131
|
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys)
|
rs150868783
|
0.00131
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00131
|
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu)
|
rs1869780
|
0.00131
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00131
|
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)
|
rs61751493
|
0.00131
|
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His)
|
rs56885166
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00131
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00131
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00130
|
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)
|
rs140353002
|
0.00130
|
NM_002055.5(GFAP):c.675C>T (p.Asp225=)
|
rs146443487
|
0.00130
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00130
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00129
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met)
|
rs186992412
|
0.00129
|
NM_004115.4(FGF14):c.373A>G (p.Ile125Val)
|
rs34073982
|
0.00129
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00129
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00129
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00128
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_001001331.4(ATP2B2):c.1353G>A (p.Leu451=)
|
rs139459100
|
0.00128
|
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=)
|
rs145176597
|
0.00128
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_016373.4(WWOX):c.1035G>A (p.Ala345=)
|
rs189695070
|
0.00128
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00128
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00127
|
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu)
|
rs147493705
|
0.00127
|
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00127
|
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu)
|
rs185660524
|
0.00127
|
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)
|
rs150243147
|
0.00127
|
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr)
|
rs144108695
|
0.00127
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_000756.4(CRH):c.456G>A (p.Arg152=)
|
rs144205489
|
0.00126
|
NM_001199107.2(TBC1D24):c.-7C>T
|
rs199852092
|
0.00126
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00126
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_152743.4(BRAT1):c.1579C>T (p.Leu527=)
|
rs151161353
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp)
|
rs112585933
|
0.00125
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00125
|
NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met)
|
rs59558623
|
0.00125
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00125
|
NM_002160.4(TNC):c.61G>A (p.Glu21Lys)
|
rs141126037
|
0.00125
|
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=)
|
rs146588152
|
0.00125
|
NM_004320.6(ATP2A1):c.159G>A (p.Val53=)
|
rs148925426
|
0.00125
|
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)
|
rs199968321
|
0.00125
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys)
|
rs41309046
|
0.00125
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00125
|
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)
|
rs551542832
|
0.00125
|
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys)
|
rs144338465
|
0.00125
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00124
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_001304438.2(TMEM132E):c.915C>T (p.Pro305=)
|
rs140315218
|
0.00124
|
NM_001845.6(COL4A1):c.3877-8G>A
|
rs370539477
|
0.00124
|
NM_004006.3(DMD):c.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)
|
rs200770543
|
0.00124
|
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)
|
rs61759917
|
0.00123
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00123
|
NM_021098.3(CACNA1H):c.4778-5C>T
|
rs72552061
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_173660.5(DOK7):c.831C>T (p.Ala277=)
|
rs150549589
|
0.00123
|
NM_198994.3(TGM6):c.956G>A (p.Arg319Gln)
|
rs148376598
|
0.00123
|
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)
|
rs200898220
|
0.00123
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00122
|
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)
|
rs76270730
|
0.00122
|
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe)
|
rs369291413
|
0.00122
|
NM_001961.4(EEF2):c.2415C>T (p.Gly805=)
|
rs143122141
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_000352.6(ABCC8):c.1177-56G>A
|
rs183921963
|
0.00121
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)
|
rs200718262
|
0.00121
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00121
|
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile)
|
rs149874529
|
0.00121
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=)
|
rs139534358
|
0.00121
|
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His)
|
rs200410805
|
0.00121
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00121
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00121
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_022489.4(INF2):c.3612G>A (p.Ser1204=)
|
rs150811244
|
0.00121
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00121
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00121
|
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)
|
rs899353
|
0.00120
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala)
|
rs7042788
|
0.00120
|
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)
|
rs142939330
|
0.00120
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00120
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val)
|
rs180791005
|
0.00120
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00120
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00119
|
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00119
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00119
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_014845.6(FIG4):c.627A>G (p.Leu209=)
|
rs140111406
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_018105.3(THAP1):c.71+9C>A
|
rs200209986
|
0.00119
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)
|
rs144164397
|
0.00119
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00119
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00118
|
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His)
|
rs151184052
|
0.00118
|
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=)
|
rs138980184
|
0.00118
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=)
|
rs148465219
|
0.00118
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00117
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00117
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
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_001379500.1(COL18A1):c.1254C>T (p.Asp418=)
|
rs368594049
|
0.00117
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00117
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00117
|
NM_032737.4(LMNB2):c.255C>G (p.Thr85=)
|
rs201524951
|
0.00117
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met)
|
rs200658159
|
0.00117
|
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile)
|
rs142946078
|
0.00117
|
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=)
|
rs6709752
|
0.00116
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00116
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00116
|
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)
|
rs45590135
|
0.00116
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00116
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)
|
rs200488179
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
NM_000268.4(NF2):c.12C>T (p.Ala4=)
|
rs144477078
|
0.00115
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00115
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00115
|
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=)
|
rs189243324
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=)
|
rs35692977
|
0.00115
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00115
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00115
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_018943.3(TUBA8):c.324C>T (p.Tyr108=)
|
rs2234327
|
0.00115
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00115
|
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=)
|
rs139115188
|
0.00115
|
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)
|
rs71647827
|
0.00115
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00115
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00114
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_001961.4(EEF2):c.1151-7C>T
|
rs200181170
|
0.00114
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00114
|
NM_000069.3(CACNA1S):c.3795+3G>A
|
rs191758096
|
0.00113
|
NM_001005361.3(DNM2):c.1782-5C>T
|
rs200103145
|
0.00113
|
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)
|
rs143941068
|
0.00113
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)
|
rs372019333
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_015087.5(SPART):c.75A>G (p.Leu25=)
|
rs148399669
|
0.00113
|
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)
|
rs147494935
|
0.00113
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu)
|
rs145376050
|
0.00113
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00112
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00112
|
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00112
|
NM_015634.4(KIFBP):c.615G>A (p.Lys205=)
|
rs146627673
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_153700.2(STRC):c.4917A>C (p.Leu1639=)
|
rs2860666
|
0.00112
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)
|
rs150380620
|
0.00111
|
NM_001278064.2(GRM1):c.1433+10T>C
|
rs373538200
|
0.00111
|
NM_002335.4(LRP5):c.2193C>T (p.Asn731=)
|
rs147388442
|
0.00111
|
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)
|
rs141002044
|
0.00111
|
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)
|
rs35035064
|
0.00111
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00111
|
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)
|
rs200852197
|
0.00111
|
NM_014363.6(SACS):c.13374C>T (p.Phe4458=)
|
rs148914536
|
0.00111
|
NM_182914.3(SYNE2):c.7643+6T>C
|
rs144143344
|
0.00111
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00110
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00110
|
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_001278064.2(GRM1):c.2991A>G (p.Ala997=)
|
rs140244084
|
0.00110
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00110
|
NM_002641.4(PIGA):c.*7G>T
|
rs142178534
|
0.00110
|
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln)
|
rs141917910
|
0.00110
|
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)
|
rs147927593
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser)
|
rs141575859
|
0.00110
|
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)
|
rs150914629
|
0.00110
|
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)
|
rs59310656
|
0.00110
|
NM_145207.3(AFG2A):c.1131G>A (p.Glu377=)
|
rs139089747
|
0.00110
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)
|
rs551187778
|
0.00110
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00109
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
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.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_004977.3(KCNC3):c.1215C>T (p.Ala405=)
|
rs116590290
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00108
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00108
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
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_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00108
|
NM_001961.4(EEF2):c.1677G>A (p.Lys559=)
|
rs146823249
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly)
|
rs139759084
|
0.00108
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00108
|
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln)
|
rs137955309
|
0.00108
|
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=)
|
rs140904010
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_000162.5(GCK):c.660C>T (p.Cys220=)
|
rs142952813
|
0.00107
|
NM_001037.5(SCN1B):c.588T>C (p.Asn196=)
|
rs77244433
|
0.00107
|
NM_001127222.2(CACNA1A):c.1914-4G>A
|
rs191026552
|
0.00107
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=)
|
rs139810154
|
0.00107
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_004646.4(NPHS1):c.3482-7A>T
|
rs73928326
|
0.00107
|
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser)
|
rs187596702
|
0.00107
|
NM_025219.3(DNAJC5):c.107+10C>T
|
rs181906972
|
0.00107
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00107
|
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=)
|
rs117423703
|
0.00107
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00107
|
NM_198576.4(AGRN):c.3765G>A (p.Ala1255=)
|
rs149490453
|
0.00107
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
NM_000337.6(SGCD):c.144G>C (p.Val48=)
|
rs372152495
|
0.00106
|
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)
|
rs149697952
|
0.00106
|
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00106
|
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)
|
rs188104446
|
0.00106
|
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=)
|
rs113315760
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)
|
rs4870093
|
0.00106
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00105
|
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn)
|
rs78468999
|
0.00105
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00105
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00105
|
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)
|
rs370604524
|
0.00105
|
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)
|
rs201167216
|
0.00105
|
NM_001845.6(COL4A1):c.3506-7C>G
|
rs377592935
|
0.00105
|
NM_003919.3(SGCE):c.606A>G (p.Thr202=)
|
rs148979783
|
0.00105
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00105
|
NM_021098.3(CACNA1H):c.3115G>A (p.Glu1039Lys)
|
rs140421233
|
0.00105
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_001164508.2(NEB):c.8202C>T (p.Val2734=)
|
rs144595998
|
0.00104
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_004977.3(KCNC3):c.315G>C (p.Thr105=)
|
rs368049323
|
0.00104
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00104
|
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=)
|
rs201096903
|
0.00104
|
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)
|
rs372791798
|
0.00103
|
NM_000545.8(HNF1A):c.1704C>T (p.Pro568=)
|
rs148520816
|
0.00103
|
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg)
|
rs141304623
|
0.00103
|
NM_001009944.3(PKD1):c.2266G>A (p.Ala756Thr)
|
rs763021570
|
0.00103
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00103
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=)
|
rs145570974
|
0.00103
|
NM_004839.4(HOMER2):c.234C>T (p.Ala78=)
|
rs200280749
|
0.00103
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00103
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
NM_006796.3(AFG3L2):c.1319-7C>T
|
rs182327153
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_024306.5(FA2H):c.537G>A (p.Leu179=)
|
rs75711361
|
0.00103
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)
|
rs979342927
|
0.00102
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val)
|
rs3749383
|
0.00102
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00102
|
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=)
|
rs137985903
|
0.00102
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)
|
rs143570842
|
0.00102
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
NM_013382.7(POMT2):c.1593G>A (p.Leu531=)
|
rs147934334
|
0.00102
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=)
|
rs17883356
|
0.00101
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00101
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00101
|
NM_001029896.2(WDR45):c.351C>T (p.Ile117=)
|
rs140596058
|
0.00101
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00101
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00101
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00101
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00101
|
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=)
|
rs372318754
|
0.00101
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_016341.4(PLCE1):c.513G>A (p.Val171=)
|
rs61749239
|
0.00101
|
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)
|
rs150327858
|
0.00101
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)
|
rs199612329
|
0.00101
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00100
|
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=)
|
rs201418175
|
0.00100
|
NM_001365999.1(SZT2):c.7975-10C>T
|
rs181831231
|
0.00100
|
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser)
|
rs112039991
|
0.00100
|
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)
|
rs61056448
|
0.00100
|
NM_024884.3(L2HGDH):c.510G>A (p.Glu170=)
|
rs151305613
|
0.00100
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00100
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00099
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00099
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00099
|
NM_002739.5(PRKCG):c.642G>A (p.Thr214=)
|
rs77550964
|
0.00099
|
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)
|
rs149218670
|
0.00099
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00099
|
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)
|
rs41308840
|
0.00099
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00098
|
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959
|
0.00098
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00098
|
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln)
|
rs200031107
|
0.00098
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00098
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00098
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
NM_005413.4(SIX3):c.219C>T (p.Pro73=)
|
rs186163123
|
0.00098
|
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=)
|
rs146167897
|
0.00098
|
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
|
rs72720524
|
0.00098
|
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)
|
rs202171627
|
0.00098
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00098
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00098
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg)
|
rs2305178
|
0.00097
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00097
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00097
|
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)
|
rs148727077
|
0.00097
|
NM_001161352.2(KCNMA1):c.2015+7G>A
|
rs78670694
|
0.00097
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00097
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00097
|
NM_020686.6(ABAT):c.366+10G>A
|
rs61307956
|
0.00097
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00097
|
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)
|
rs199843296
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)
|
rs187950806
|
0.00096
|
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)
|
rs112388307
|
0.00096
|
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=)
|
rs60480887
|
0.00096
|
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg)
|
rs140476180
|
0.00096
|
NM_015295.3(SMCHD1):c.5878+8T>G
|
rs144115061
|
0.00096
|
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)
|
rs57260464
|
0.00096
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00096
|
NM_021942.6(TRAPPC11):c.117C>G (p.Ala39=)
|
rs145842147
|
0.00096
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00096
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
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_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00095
|
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)
|
rs3746366
|
0.00095
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp)
|
rs144712084
|
0.00094
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00094
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00094
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)
|
rs143495349
|
0.00094
|
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=)
|
rs150153477
|
0.00094
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00094
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00094
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00094
|
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp)
|
rs145227848
|
0.00094
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00093
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00093
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00093
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=)
|
rs145346590
|
0.00093
|
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874
|
0.00093
|
NM_000388.4(CASR):c.6A>C (p.Ala2=)
|
rs112042188
|
0.00092
|
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)
|
rs146462599
|
0.00092
|
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu)
|
rs147910505
|
0.00092
|
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
|
rs144663361
|
0.00092
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
NM_001378120.1(MBD5):c.3754-9T>C
|
rs370173652
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00092
|
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val)
|
rs139659129
|
0.00091
|
NM_000257.4(MYH7):c.930T>C (p.Tyr310=)
|
rs111626355
|
0.00091
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00091
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00091
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00091
|
NM_004082.5(DCTN1):c.280-3C>T
|
rs114364621
|
0.00091
|
NM_004977.3(KCNC3):c.1978+3G>A
|
rs373297576
|
0.00091
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00091
|
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)
|
rs146022384
|
0.00091
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477
|
0.00091
|
NM_032409.3(PINK1):c.936G>A (p.Arg312=)
|
rs56200357
|
0.00091
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00091
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00091
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00090
|
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)
|
rs61732108
|
0.00090
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00090
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)
|
rs200705345
|
0.00090
|
NM_004287.5(GOSR2):c.*1823C>T
|
rs142261376
|
0.00090
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00090
|
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)
|
rs138447102
|
0.00090
|
NM_198994.3(TGM6):c.1387G>A (p.Gly463Ser)
|
rs138184667
|
0.00090
|
NM_201378.4(PLEC):c.71-11599T>C
|
rs201910266
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_000334.4(SCN4A):c.318C>T (p.Ser106=)
|
rs138670794
|
0.00089
|
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser)
|
rs61746118
|
0.00089
|
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile)
|
rs72654357
|
0.00089
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00089
|
NM_001267550.2(TTN):c.15906C>T (p.Val5302=)
|
rs375179152
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys)
|
rs141725964
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00088
|
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)
|
rs370684491
|
0.00088
|
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)
|
rs199653503
|
0.00088
|
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr)
|
rs149094407
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00088
|
NM_020822.3(KCNT1):c.1134C>T (p.Val378=)
|
rs149960236
|
0.00088
|
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
|
rs149806390
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr)
|
rs201523118
|
0.00088
|
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val)
|
rs140833277
|
0.00088
|
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=)
|
rs141673192
|
0.00088
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00087
|
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)
|
rs371534878
|
0.00087
|
NM_014874.4(MFN2):c.891C>T (p.Ala297=)
|
rs11554508
|
0.00087
|
NM_018075.5(ANO10):c.963C>T (p.Phe321=)
|
rs149196477
|
0.00087
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00087
|
NM_182914.3(SYNE2):c.6690C>T (p.His2230=)
|
rs138272705
|
0.00087
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00087
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00086
|
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)
|
rs181299250
|
0.00086
|
NM_002087.4(GRN):c.228C>T (p.Thr76=)
|
rs144736470
|
0.00086
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)
|
rs199861426
|
0.00086
|
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)
|
rs201918221
|
0.00086
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly)
|
rs149617373
|
0.00086
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
NM_201384.3(PLEC):c.2508G>A (p.Pro836=)
|
rs116385960
|
0.00086
|
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=)
|
rs375914011
|
0.00086
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00085
|
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=)
|
rs147253810
|
0.00085
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00085
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00085
|
NM_005529.7(HSPG2):c.11671+5G>A
|
rs77527456
|
0.00085
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00085
|
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=)
|
rs150709673
|
0.00085
|
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=)
|
rs144880376
|
0.00085
|
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu)
|
rs551811137
|
0.00084
|
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=)
|
rs147074393
|
0.00084
|
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp)
|
rs117273916
|
0.00084
|
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)
|
rs141563188
|
0.00084
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00084
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00084
|
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=)
|
rs34803755
|
0.00084
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp)
|
rs145977158
|
0.00084
|
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu)
|
rs189860274
|
0.00084
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=)
|
rs147764548
|
0.00083
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)
|
rs148659814
|
0.00082
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_000268.4(NF2):c.1386C>T (p.Arg462=)
|
rs138354622
|
0.00082
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00082
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00082
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_007126.5(VCP):c.2214A>G (p.Glu738=)
|
rs374391034
|
0.00082
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00082
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)
|
rs146685404
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00081
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)
|
rs200049911
|
0.00081
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser)
|
rs184563685
|
0.00081
|
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=)
|
rs142011049
|
0.00081
|
NM_005548.3(KARS1):c.612A>G (p.Thr204=)
|
rs141539149
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=)
|
rs143948660
|
0.00081
|
NM_022489.4(INF2):c.1950-10C>T
|
rs199987321
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile)
|
rs139757692
|
0.00080
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00080
|
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys)
|
rs139300921
|
0.00080
|
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe)
|
rs370141157
|
0.00080
|
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)
|
rs143265128
|
0.00080
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=)
|
rs140134749
|
0.00080
|
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=)
|
rs74485823
|
0.00080
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00080
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00080
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00080
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=)
|
rs61751150
|
0.00079
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)
|
rs373842558
|
0.00079
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=)
|
rs564134000
|
0.00079
|
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)
|
rs28937880
|
0.00079
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00079
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
NM_000209.4(PDX1):c.6C>T (p.Asn2=)
|
rs146936598
|
0.00078
|
NM_000268.4(NF2):c.1416C>T (p.Leu472=)
|
rs148776784
|
0.00078
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)
|
rs141946034
|
0.00078
|
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)
|
rs144094037
|
0.00078
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00078
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
NM_001271.4(CHD2):c.960A>T (p.Thr320=)
|
rs149632554
|
0.00078
|
NM_001278064.2(GRM1):c.444C>G (p.Pro148=)
|
rs138794480
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=)
|
rs113368815
|
0.00078
|
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_005097.4(LGI1):c.1A>G (p.Met1Val)
|
rs202204627
|
0.00078
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
NM_006009.4(TUBA1A):c.226+10C>T
|
rs199717430
|
0.00078
|
NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=)
|
rs147131347
|
0.00078
|
NM_007327.4(GRIN1):c.570+10G>A
|
rs200924771
|
0.00078
|
NM_014846.4(WASHC5):c.732G>A (p.Pro244=)
|
rs146320386
|
0.00078
|
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)
|
rs201196622
|
0.00078
|
NM_052874.5(STX1B):c.786+7G>A
|
rs201785193
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)
|
rs200741156
|
0.00078
|
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)
|
rs542642242
|
0.00078
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_000122.2(ERCC3):c.618C>T (p.Ala206=)
|
rs145830873
|
0.00077
|
NM_000209.4(PDX1):c.165C>A (p.Gly55=)
|
rs530567443
|
0.00077
|
NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=)
|
rs192247062
|
0.00077
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00077
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00077
|
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)
|
rs201417343
|
0.00077
|
NM_000069.3(CACNA1S):c.4114-8T>C
|
rs373675720
|
0.00076
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00076
|
NM_000193.4(SHH):c.1078C>T (p.Leu360=)
|
rs191903572
|
0.00076
|
NM_000371.4(TTR):c.*3_*11del
|
rs143948820
|
0.00076
|
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=)
|
rs141346023
|
0.00076
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00076
|
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)
|
rs143840033
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00076
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
0.00076
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00076
|
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met)
|
rs112921115
|
0.00076
|
NM_014363.6(SACS):c.1374A>G (p.Thr458=)
|
rs149129638
|
0.00076
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00076
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00076
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr)
|
rs61732521
|
0.00076
|
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)
|
rs149496604
|
0.00076
|
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)
|
rs114858512
|
0.00076
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00076
|
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val)
|
rs200061415
|
0.00076
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00075
|
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=)
|
rs142714242
|
0.00075
|
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)
|
rs201509188
|
0.00075
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00075
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00075
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00075
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)
|
rs147632811
|
0.00075
|
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=)
|
rs142451929
|
0.00074
|
NM_000435.3(NOTCH3):c.1607-5C>A
|
rs372869012
|
0.00074
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00074
|
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=)
|
rs571408286
|
0.00074
|
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)
|
rs200650758
|
0.00074
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=)
|
rs145413043
|
0.00074
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00074
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00074
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00074
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00074
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00074
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)
|
rs140281678
|
0.00074
|
NM_152393.4(KLHL40):c.447C>T (p.Ala149=)
|
rs138852341
|
0.00074
|
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
|
rs138120505
|
0.00074
|
NM_182914.3(SYNE2):c.8403C>T (p.Gly2801=)
|
rs189676726
|
0.00074
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
|
rs63750197
|
0.00073
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)
|
rs34013442
|
0.00073
|
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=)
|
rs145996171
|
0.00073
|
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg)
|
rs140063274
|
0.00073
|
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)
|
rs72556555
|
0.00073
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00073
|
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala)
|
rs144094215
|
0.00073
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00072
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00072
|
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)
|
rs199996308
|
0.00072
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00072
|
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=)
|
rs199960483
|
0.00072
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00072
|
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=)
|
rs72870766
|
0.00072
|
NM_152393.4(KLHL40):c.648G>T (p.Ala216=)
|
rs200613578
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=)
|
rs139838755
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg)
|
rs201394709
|
0.00071
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile)
|
rs140564566
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)
|
rs150849316
|
0.00070
|
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp)
|
rs888391580
|
0.00070
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00070
|
NM_000451.4(SHOX):c.634-14G>T
|
rs759067813
|
0.00070
|
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=)
|
rs77299791
|
0.00070
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00070
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)
|
rs149776253
|
0.00070
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00070
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00070
|
NM_015087.5(SPART):c.363C>T (p.Asp121=)
|
rs149393698
|
0.00070
|
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=)
|
rs139551241
|
0.00070
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00070
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
NM_000484.4(APP):c.1305C>T (p.Phe435=)
|
rs148180403
|
0.00069
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr)
|
rs150568356
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_001330078.2(NRXN1):c.1158+26A>T
|
rs201802152
|
0.00069
|
NM_005413.4(SIX3):c.348C>T (p.Pro116=)
|
rs573768953
|
0.00069
|
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=)
|
rs138091242
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00069
|
NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln)
|
rs201645096
|
0.00069
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
rs140562402
|
0.00068
|
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515
|
0.00068
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00068
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00068
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00068
|
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln)
|
rs146140125
|
0.00068
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00068
|
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=)
|
rs115736276
|
0.00068
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00068
|
NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=)
|
rs147973032
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_014208.3(DSPP):c.180G>T (p.Leu60=)
|
rs200927888
|
0.00068
|
NM_018075.5(ANO10):c.1914+3G>A
|
rs113187031
|
0.00068
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00068
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)
|
rs142690727
|
0.00068
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00068
|
NM_198994.3(TGM6):c.1301G>A (p.Arg434His)
|
rs150243412
|
0.00068
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
rs202151409
|
0.00067
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00067
|
NM_001159699.2(FHL1):c.114G>A (p.Lys38=)
|
rs140149764
|
0.00067
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00067
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00067
|
NM_016373.4(WWOX):c.807C>T (p.Asn269=)
|
rs62034095
|
0.00067
|
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)
|
rs148105529
|
0.00067
|
NM_024301.5(FKRP):c.636G>A (p.Ala212=)
|
rs370099812
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)
|
rs147088274
|
0.00067
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln)
|
rs369775705
|
0.00067
|
NM_198994.3(TGM6):c.751T>C (p.Trp251Arg)
|
rs375649994
|
0.00067
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)
|
rs142818334
|
0.00066
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)
|
rs143765389
|
0.00066
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=)
|
rs370480927
|
0.00066
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr)
|
rs181012655
|
0.00066
|
NM_002087.4(GRN):c.708+8A>T
|
rs370878457
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00066
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00066
|
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)
|
rs143676075
|
0.00066
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00066
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
NM_052874.5(STX1B):c.837G>A (p.Ala279=)
|
rs150313069
|
0.00066
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00066
|
NM_173500.4(TTBK2):c.1929T>C (p.Ala643=)
|
rs376543555
|
0.00066
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00065
|
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu)
|
rs886038369
|
0.00065
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=)
|
rs142409803
|
0.00065
|
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=)
|
rs75275592
|
0.00065
|
NM_004006.3(DMD):c.2199C>T (p.Ser733=)
|
rs149882431
|
0.00065
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000338.3(SLC12A1):c.3096+7A>T
|
rs200662267
|
0.00064
|
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln)
|
rs143385744
|
0.00064
|
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)
|
rs138837774
|
0.00064
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00064
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
NM_004977.3(KCNC3):c.1875G>T (p.Arg625Ser)
|
rs537912602
|
0.00064
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00064
|
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=)
|
rs142395521
|
0.00064
|
NM_006922.4(SCN3A):c.44G>A (p.Arg15His)
|
rs139769668
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)
|
rs144947610
|
0.00064
|
NM_018941.4(CLN8):c.546G>A (p.Ala182=)
|
rs144047076
|
0.00064
|
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)
|
rs143990563
|
0.00064
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00064
|
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)
|
rs200437377
|
0.00064
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00063
|
NM_000217.3(KCNA1):c.611G>A (p.Arg204His)
|
rs2229000
|
0.00063
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00063
|
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=)
|
rs138771137
|
0.00063
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00063
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
NM_001195248.2(APTX):c.513G>A (p.Leu171=)
|
rs140888559
|
0.00063
|
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=)
|
rs142197878
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)
|
rs181469519
|
0.00063
|
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=)
|
rs200426774
|
0.00063
|
NM_001379200.1(TBX1):c.840C>T (p.Thr280=)
|
rs61730282
|
0.00063
|
NM_001379500.1(COL18A1):c.107-12197G>A
|
rs200284308
|
0.00063
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)
|
rs139482113
|
0.00063
|
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=)
|
rs143791614
|
0.00063
|
NM_004172.5(SLC1A3):c.320-7C>T
|
rs200867287
|
0.00063
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00063
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00063
|
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)
|
rs7229488
|
0.00063
|
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=)
|
rs146245515
|
0.00063
|
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)
|
rs140817689
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)
|
rs147745609
|
0.00063
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00063
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
NM_000478.6(ALPL):c.858A>G (p.Leu286=)
|
rs375027534
|
0.00062
|
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=)
|
rs117886618
|
0.00062
|
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
|
rs148546224
|
0.00062
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00062
|
NM_004006.3(DMD):c.1028G>A (p.Arg343His)
|
rs61733589
|
0.00062
|
NM_004960.4(FUS):c.404G>A (p.Ser135Asn)
|
rs61732970
|
0.00062
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00062
|
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)
|
rs149887215
|
0.00062
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00062
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00062
|
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=)
|
rs147100928
|
0.00062
|
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys)
|
rs149056587
|
0.00062
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_201384.3(PLEC):c.6021G>A (p.Ala2007=)
|
rs200338935
|
0.00062
|
NM_213599.3(ANO5):c.294G>A (p.Ala98=)
|
rs142858990
|
0.00062
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
rs144425830
|
0.00061
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=)
|
rs142606648
|
0.00061
|
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)
|
rs138023728
|
0.00061
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly)
|
rs146745502
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_002578.5(PAK3):c.483A>G (p.Ala161=)
|
rs146801179
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00061
|
NM_006623.4(PHGDH):c.624T>C (p.Pro208=)
|
rs77401816
|
0.00061
|
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)
|
rs199691161
|
0.00061
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00061
|
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)
|
rs146121135
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_024589.3(ROGDI):c.567G>A (p.Leu189=)
|
rs143000899
|
0.00061
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=)
|
rs144904215
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00060
|
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)
|
rs149924232
|
0.00060
|
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=)
|
rs2274308
|
0.00060
|
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=)
|
rs199854716
|
0.00060
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00060
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00060
|
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp)
|
rs764159927
|
0.00060
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00060
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_018319.4(TDP1):c.1800G>A (p.Thr600=)
|
rs75808917
|
0.00060
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00060
|
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)
|
rs144056525
|
0.00060
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)
|
rs377059744
|
0.00060
|
NM_000069.3(CACNA1S):c.1948+10C>G
|
rs201173419
|
0.00059
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)
|
rs201820569
|
0.00059
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
0.00059
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00059
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)
|
rs147641617
|
0.00059
|
NM_007327.4(GRIN1):c.768G>C (p.Gly256=)
|
rs141473515
|
0.00059
|
NM_014874.4(MFN2):c.1495+9C>T
|
rs375494746
|
0.00059
|
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)
|
rs146975855
|
0.00059
|
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)
|
rs141106709
|
0.00058
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00058
|
NM_000540.3(RYR1):c.8616+7G>A
|
rs200023171
|
0.00058
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
|
rs72558029
|
0.00058
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00058
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
0.00058
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=)
|
rs542151771
|
0.00058
|
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=)
|
rs56211557
|
0.00058
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_021625.5(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793
|
0.00058
|
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)
|
rs147873489
|
0.00058
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00058
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00058
|
NM_000161.3(GCH1):c.*12T>C
|
rs190993883
|
0.00057
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_002087.3(GRN):c.-45C>G
|
rs563336550
|
0.00057
|
NM_002693.3(POLG):c.1712+10G>A
|
rs55962804
|
0.00057
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)
|
rs202214491
|
0.00057
|
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu)
|
rs138898373
|
0.00057
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=)
|
rs149570469
|
0.00057
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00056
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00056
|
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=)
|
rs137913879
|
0.00056
|
NM_001267550.2(TTN):c.40634-9A>G
|
rs373511249
|
0.00056
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00056
|
NM_001379180.1(ESRRB):c.*1535G>A
|
rs200237229
|
0.00056
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_002739.5(PRKCG):c.638G>A (p.Arg213Gln)
|
rs115832790
|
0.00056
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His)
|
rs115702388
|
0.00056
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)
|
rs141936971
|
0.00056
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)
|
rs141683210
|
0.00056
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=)
|
rs368758031
|
0.00056
|
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=)
|
rs200665714
|
0.00056
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00056
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00056
|
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)
|
rs139466191
|
0.00056
|
NM_182961.4(SYNE1):c.3669+10T>C
|
rs187598275
|
0.00056
|
NM_201378.4(PLEC):c.71-11923G>A
|
rs200842821
|
0.00056
|
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=)
|
rs148680317
|
0.00055
|
NM_000142.5(FGFR3):c.1959+8C>T
|
rs371666188
|
0.00055
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179
|
0.00055
|
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser)
|
rs142527333
|
0.00055
|
NM_015559.3(SETBP1):c.3808G>A (p.Gly1270Ser)
|
rs142834327
|
0.00055
|
NM_018109.4(MTPAP):c.1278T>C (p.Ser426=)
|
rs147355590
|
0.00055
|
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)
|
rs200706696
|
0.00055
|
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)
|
rs2229790
|
0.00055
|
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)
|
rs373646325
|
0.00055
|
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00054
|
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)
|
rs763248287
|
0.00054
|
NM_000451.4(SHOX):c.400C>A (p.Arg134=)
|
rs193922467
|
0.00054
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)
|
rs71651692
|
0.00054
|
NM_000815.5(GABRD):c.1060-7C>T
|
rs368961588
|
0.00054
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
NM_001195248.2(APTX):c.770+10G>T
|
rs111392103
|
0.00054
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
NM_001267550.2(TTN):c.44548+9A>G
|
rs372725070
|
0.00054
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser)
|
rs150966402
|
0.00054
|
NM_001378452.1(ITPR1):c.5277G>A (p.Ser1759=)
|
rs368425885
|
0.00054
|
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His)
|
rs140392638
|
0.00054
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala)
|
rs141108624
|
0.00054
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00054
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00054
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00054
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
NM_182961.4(SYNE1):c.1730-7G>A
|
rs367603152
|
0.00054
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00054
|
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)
|
rs200062782
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00053
|
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser)
|
rs201793080
|
0.00053
|
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)
|
rs149726115
|
0.00053
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala)
|
rs147874855
|
0.00053
|
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)
|
rs192725607
|
0.00053
|
NM_001614.5(ACTG1):c.774G>A (p.Pro258=)
|
rs61997068
|
0.00053
|
NM_001961.4(EEF2):c.2496C>T (p.Ser832=)
|
rs147759681
|
0.00053
|
NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=)
|
rs146526805
|
0.00053
|
NM_006946.4(SPTBN2):c.590A>G (p.Asn197Ser)
|
rs148154681
|
0.00053
|
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=)
|
rs190789698
|
0.00053
|
NM_020988.3(GNAO1):c.414A>G (p.Gln138=)
|
rs141057479
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu)
|
rs149481227
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00053
|
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile)
|
rs199670962
|
0.00053
|
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=)
|
rs147495708
|
0.00053
|
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=)
|
rs144218745
|
0.00052
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00052
|
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)
|
rs141705330
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_001961.4(EEF2):c.1746G>A (p.Thr582=)
|
rs148878859
|
0.00052
|
NM_002087.4(GRN):c.253C>G (p.Pro85Ala)
|
rs143560849
|
0.00052
|
NM_002087.4(GRN):c.393C>G (p.Phe131Leu)
|
rs149180605
|
0.00052
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00052
|
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
|
rs143948239
|
0.00052
|
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His)
|
rs151045115
|
0.00052
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00052
|
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)
|
rs145674759
|
0.00052
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00052
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00052
|
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=)
|
rs373341589
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp)
|
rs200562975
|
0.00051
|
NM_000454.5(SOD1):c.357+9T>C
|
rs17886692
|
0.00051
|
NM_000497.4(CYP11B1):c.50C>T (p.Ser17Phe)
|
rs142591816
|
0.00051
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=)
|
rs113080067
|
0.00051
|
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met)
|
rs202025804
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00051
|
NM_001961.4(EEF2):c.2250+10A>G
|
rs368428296
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln)
|
rs139569882
|
0.00051
|
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)
|
rs138565447
|
0.00051
|
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)
|
rs149598144
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=)
|
rs149710901
|
0.00051
|
NM_005633.4(SOS1):c.2760G>A (p.Arg920=)
|
rs149092581
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)
|
rs146522169
|
0.00051
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00051
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00051
|
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)
|
rs199879193
|
0.00051
|
NM_201384.3(PLEC):c.540C>T (p.Cys180=)
|
rs189256993
|
0.00051
|
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys)
|
rs148385032
|
0.00051
|
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=)
|
rs147833498
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_000478.6(ALPL):c.744C>T (p.Asp248=)
|
rs188689330
|
0.00050
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00050
|
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)
|
rs139694653
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00050
|
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr)
|
rs202128602
|
0.00050
|
NM_001540.5(HSPB1):c.240A>G (p.Gln80=)
|
rs377246178
|
0.00050
|
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr)
|
rs186012808
|
0.00050
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00050
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00050
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00050
|
NM_182914.3(SYNE2):c.18723+8C>T
|
rs200853043
|
0.00050
|
NM_000033.4(ABCD1):c.601G>A (p.Val201Met)
|
rs139415350
|
0.00049
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00049
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00049
|
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)
|
rs76956936
|
0.00049
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00049
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00049
|
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=)
|
rs148892536
|
0.00049
|
NM_001367561.1(DOCK7):c.281G>A (p.Arg94Gln)
|
rs570514826
|
0.00049
|
NM_018075.5(ANO10):c.566G>A (p.Arg189Gln)
|
rs148873732
|
0.00049
|
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)
|
rs60734921
|
0.00049
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00049
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00049
|
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=)
|
rs191863619
|
0.00049
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=)
|
rs143843155
|
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_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00048
|
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657
|
0.00048
|
NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser)
|
rs200747487
|
0.00048
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)
|
rs112944532
|
0.00048
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00048
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00048
|
NM_012210.4(TRIM32):c.*1G>A
|
rs142781513
|
0.00048
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_025137.4(SPG11):c.7152-14_7152-10dup
|
rs566399432
|
0.00048
|
NM_145239.3(PRRT2):c.645C>T (p.Pro215=)
|
rs183683129
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00048
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00048
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00047
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00047
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00047
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
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_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699
|
0.00047
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00047
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00047
|
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=)
|
rs139108785
|
0.00047
|
NM_138691.3(TMC1):c.696C>T (p.Ala232=)
|
rs112843964
|
0.00047
|
NM_181882.3(PRX):c.1651G>A (p.Val551Met)
|
rs61733448
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)
|
rs149142237
|
0.00046
|
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=)
|
rs75914945
|
0.00046
|
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=)
|
rs376607683
|
0.00046
|
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)
|
rs972049140
|
0.00046
|
NM_001110792.2(MECP2):c.855G>T (p.Gly285=)
|
rs61750245
|
0.00046
|
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=)
|
rs150902677
|
0.00046
|
NM_001146262.4(SYT14):c.1068A>G (p.Glu356=)
|
rs376509952
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00046
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_002296.4(LBR):c.1528G>A (p.Ala510Thr)
|
rs78828796
|
0.00046
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00046
|
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys)
|
rs150562946
|
0.00046
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=)
|
rs150497848
|
0.00046
|
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)
|
rs377507553
|
0.00046
|
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)
|
rs199619932
|
0.00046
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile)
|
rs141141950
|
0.00046
|
NM_198994.3(TGM6):c.1452C>T (p.Asp484=)
|
rs142748417
|
0.00046
|
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)
|
rs781946435
|
0.00046
|
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)
|
rs371763907
|
0.00046
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00046
|
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)
|
rs146136274
|
0.00045
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00045
|
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=)
|
rs374511141
|
0.00045
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)
|
rs55677134
|
0.00045
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
NM_003334.4(UBA1):c.1137C>T (p.Asp379=)
|
rs143935711
|
0.00045
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00045
|
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)
|
rs140929274
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_025137.4(SPG11):c.1605C>T (p.Ala535=)
|
rs117683234
|
0.00045
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00044
|
NM_000297.4(PKD2):c.1617G>C (p.Leu539=)
|
rs145297759
|
0.00044
|
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)
|
rs199827271
|
0.00044
|
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=)
|
rs116239440
|
0.00044
|
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr)
|
rs143312683
|
0.00044
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00044
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00044
|
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)
|
rs148788926
|
0.00044
|
NM_024334.3(TMEM43):c.279C>T (p.Gly93=)
|
rs149883381
|
0.00044
|
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=)
|
rs113207069
|
0.00044
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00044
|
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe)
|
rs140135976
|
0.00044
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00044
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00044
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00043
|
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val)
|
rs150037063
|
0.00043
|
NM_000484.4(APP):c.592T>C (p.Ser198Pro)
|
rs145081708
|
0.00043
|
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)
|
rs200204761
|
0.00043
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00043
|
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=)
|
rs145063831
|
0.00043
|
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)
|
rs200225298
|
0.00043
|
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys)
|
rs148270789
|
0.00043
|
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
0.00043
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_173500.4(TTBK2):c.144A>C (p.Ala48=)
|
rs183146681
|
0.00043
|
NM_175914.5(HNF4A):c.138G>A (p.Thr46=)
|
rs145845882
|
0.00043
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)
|
rs148028364
|
0.00042
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00042
|
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)
|
rs16979773
|
0.00042
|
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys)
|
rs201105335
|
0.00042
|
NM_000726.5(CACNB4):c.64-238T>G
|
rs369342902
|
0.00042
|
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=)
|
rs201253055
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_001540.5(HSPB1):c.438C>T (p.Pro146=)
|
rs7805625
|
0.00042
|
NM_002335.4(LRP5):c.1585-9G>A
|
rs202067798
|
0.00042
|
NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=)
|
rs370145169
|
0.00042
|
NM_004115.4(FGF14):c.579A>T (p.Ala193=)
|
rs138607344
|
0.00042
|
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp)
|
rs2270699
|
0.00042
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00042
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00042
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00042
|
NM_201384.3(PLEC):c.963C>T (p.Phe321=)
|
rs368425406
|
0.00042
|
NM_000144.5(FXN):c.118C>T (p.Arg40Cys)
|
rs145854903
|
0.00041
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00041
|
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=)
|
rs144401090
|
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.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)
|
rs200899806
|
0.00041
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr)
|
rs149282970
|
0.00041
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=)
|
rs373480204
|
0.00041
|
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=)
|
rs35541310
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg)
|
rs200466260
|
0.00041
|
NM_030962.4(SBF2):c.1965G>A (p.Thr655=)
|
rs143732754
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)
|
rs200361523
|
0.00041
|
NM_000196.4(HSD11B2):c.177C>A (p.Ala59=)
|
rs45562134
|
0.00040
|
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)
|
rs146578402
|
0.00040
|
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)
|
rs150570058
|
0.00040
|
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)
|
rs534339525
|
0.00040
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
0.00040
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00040
|
NM_003611.3(OFD1):c.919G>A (p.Val307Ile)
|
rs139444990
|
0.00040
|
NM_007126.5(VCP):c.832T>C (p.Leu278=)
|
rs200670526
|
0.00040
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)
|
rs372945746
|
0.00040
|
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)
|
rs149566146
|
0.00040
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00040
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00040
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
NM_198578.4(LRRK2):c.825T>C (p.His275=)
|
rs72546315
|
0.00040
|
NM_198994.3(TGM6):c.1011G>A (p.Glu337=)
|
rs142832802
|
0.00040
|
NM_198994.3(TGM6):c.1705T>A (p.Tyr569Asn)
|
rs142406714
|
0.00040
|
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)
|
rs35821434
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000484.4(APP):c.226G>A (p.Val76Ile)
|
rs151188448
|
0.00039
|
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=)
|
rs199636890
|
0.00039
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00039
|
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=)
|
rs367600795
|
0.00039
|
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr)
|
rs200201418
|
0.00039
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00039
|
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu)
|
rs140427193
|
0.00039
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)
|
rs116974302
|
0.00039
|
NM_004637.6(RAB7A):c.87G>A (p.Val29=)
|
rs145441548
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00039
|
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)
|
rs147286334
|
0.00039
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00039
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser)
|
rs201072069
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=)
|
rs201662235
|
0.00039
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000209.4(PDX1):c.336C>G (p.Pro112=)
|
rs149275902
|
0.00038
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln)
|
rs192102667
|
0.00038
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00038
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00038
|
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=)
|
rs41290672
|
0.00038
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00038
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00038
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=)
|
rs200017975
|
0.00038
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00038
|
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys)
|
rs397517419
|
0.00038
|
NM_152393.4(KLHL40):c.238G>C (p.Asp80His)
|
rs144461124
|
0.00038
|
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=)
|
rs149393972
|
0.00038
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00038
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00038
|
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=)
|
rs367688739
|
0.00038
|
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=)
|
rs116640707
|
0.00037
|
NM_000088.4(COL1A1):c.2668-12A>G
|
rs200355573
|
0.00037
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00037
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)
|
rs147859619
|
0.00037
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00037
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001145809.2(MYH14):c.1224C>T (p.Leu408=)
|
rs145163585
|
0.00037
|
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)
|
rs200902828
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)
|
rs144957555
|
0.00037
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr)
|
rs150852085
|
0.00037
|
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)
|
rs201123438
|
0.00037
|
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=)
|
rs188913729
|
0.00037
|
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
|
rs147121216
|
0.00037
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=)
|
rs200354336
|
0.00036
|
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=)
|
rs140368657
|
0.00036
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
NM_000435.3(NOTCH3):c.536G>T (p.Gly179Val)
|
rs142778401
|
0.00036
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00036
|
NM_000533.5(PLP1):c.549C>A (p.Thr183=)
|
rs184166250
|
0.00036
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00036
|
NM_000545.8(HNF1A):c.336G>A (p.Pro112=)
|
rs371365341
|
0.00036
|
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)
|
rs201724032
|
0.00036
|
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)
|
rs144474773
|
0.00036
|
NM_001130987.2(DYSF):c.3086-9C>T
|
rs185350547
|
0.00036
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00036
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00036
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00036
|
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)
|
rs144159890
|
0.00036
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=)
|
rs142587742
|
0.00036
|
NM_018319.4(TDP1):c.774G>A (p.Ala258=)
|
rs139270583
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_024596.5(MCPH1):c.489T>C (p.Thr163=)
|
rs191104356
|
0.00036
|
NM_133433.4(NIPBL):c.198C>G (p.Val66=)
|
rs146033170
|
0.00036
|
NM_181882.3(PRX):c.540G>A (p.Pro180=)
|
rs371243093
|
0.00036
|
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)
|
rs144201778
|
0.00036
|
NM_198994.3(TGM6):c.555C>T (p.Asp185=)
|
rs144101264
|
0.00036
|
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)
|
rs368326361
|
0.00036
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=)
|
rs201436750
|
0.00035
|
NM_000435.3(NOTCH3):c.5200-4C>A
|
rs375036447
|
0.00035
|
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser)
|
rs566921201
|
0.00035
|
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)
|
rs188888939
|
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.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=)
|
rs559123807
|
0.00035
|
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=)
|
rs201430964
|
0.00035
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)
|
rs139859950
|
0.00035
|
NM_004733.4(SLC33A1):c.288A>C (p.Pro96=)
|
rs200885656
|
0.00035
|
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser)
|
rs139077453
|
0.00035
|
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)
|
rs575642464
|
0.00035
|
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)
|
rs368571200
|
0.00035
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00035
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00035
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_032737.4(LMNB2):c.855+8C>T
|
rs375918278
|
0.00035
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp)
|
rs138780308
|
0.00035
|
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)
|
rs782590380
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00034
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001267550.2(TTN):c.64654A>G (p.Ile21552Val)
|
rs201247592
|
0.00034
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00034
|
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile)
|
rs200646875
|
0.00034
|
NM_001378452.1(ITPR1):c.6447C>T (p.Asn2149=)
|
rs202123078
|
0.00034
|
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)
|
rs139578640
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_003680.4(YARS1):c.1008G>A (p.Leu336=)
|
rs140232925
|
0.00034
|
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)
|
rs142542453
|
0.00034
|
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr)
|
rs115788094
|
0.00034
|
NM_014363.6(SACS):c.3828A>G (p.Pro1276=)
|
rs369988818
|
0.00034
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833
|
0.00034
|
NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg)
|
rs147174746
|
0.00034
|
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=)
|
rs139570869
|
0.00034
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=)
|
rs200423899
|
0.00034
|
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)
|
rs200916673
|
0.00034
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_201384.3(PLEC):c.6162C>T (p.His2054=)
|
rs563719398
|
0.00034
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00033
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00033
|
NM_001961.4(EEF2):c.2109C>T (p.Asp703=)
|
rs138319587
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_004115.4(FGF14):c.123C>T (p.Asn41=)
|
rs372705140
|
0.00033
|
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
0.00033
|
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521
|
0.00033
|
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=)
|
rs141448616
|
0.00033
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00033
|
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)
|
rs372858742
|
0.00033
|
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)
|
rs147879224
|
0.00033
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00032
|
NM_000435.3(NOTCH3):c.1493-8C>T
|
rs201202842
|
0.00032
|
NM_001009944.3(PKD1):c.951T>C (p.Ala317=)
|
rs540366995
|
0.00032
|
NM_001083962.2(TCF4):c.966T>C (p.Asp322=)
|
rs142998298
|
0.00032
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00032
|
NM_001161352.2(KCNMA1):c.90C>T (p.His30=)
|
rs75040504
|
0.00032
|
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)
|
rs201981364
|
0.00032
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)
|
rs200728478
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_005529.7(HSPG2):c.13004-5G>A
|
rs376645617
|
0.00032
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met)
|
rs149024147
|
0.00032
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_015340.4(LARS2):c.1622+8G>A
|
rs202009605
|
0.00032
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00032
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu)
|
rs202158738
|
0.00032
|
NM_030665.4(RAI1):c.5079G>A (p.Pro1693=)
|
rs748845443
|
0.00032
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)
|
rs112419003
|
0.00032
|
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)
|
rs189676187
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_198576.4(AGRN):c.2277G>A (p.Pro759=)
|
rs199985558
|
0.00032
|
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)
|
rs201373953
|
0.00032
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)
|
rs201962241
|
0.00031
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00031
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00031
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00031
|
NM_000447.3(PSEN2):c.520A>G (p.Met174Val)
|
rs61757781
|
0.00031
|
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=)
|
rs150623275
|
0.00031
|
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=)
|
rs373795773
|
0.00031
|
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)
|
rs200141437
|
0.00031
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00031
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00031
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00031
|
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=)
|
rs370939479
|
0.00031
|
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=)
|
rs373127487
|
0.00031
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00031
|
NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala)
|
rs530087850
|
0.00031
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00031
|
NM_003482.4(KMT2D):c.11670C>T (p.Ser3890=)
|
rs376471354
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)
|
rs150821246
|
0.00031
|
NM_005529.7(HSPG2):c.1359G>A (p.Val453=)
|
rs147812691
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
0.00031
|
NM_018109.4(MTPAP):c.1312+3A>G
|
rs117698926
|
0.00031
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr)
|
rs142214506
|
0.00031
|
NM_022464.5(SIL1):c.1161G>A (p.Ala387=)
|
rs140171020
|
0.00031
|
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=)
|
rs370155790
|
0.00031
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00031
|
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)
|
rs201916690
|
0.00031
|
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)
|
rs63750592
|
0.00030
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=)
|
rs146792012
|
0.00030
|
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr)
|
rs72647543
|
0.00030
|
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010
|
0.00030
|
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)
|
rs145143725
|
0.00030
|
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)
|
rs201870762
|
0.00030
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00030
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00030
|
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)
|
rs189208539
|
0.00030
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His)
|
rs201950393
|
0.00030
|
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
0.00030
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00030
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_020822.3(KCNT1):c.1338-3C>T
|
rs369562243
|
0.00030
|
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=)
|
rs374347802
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
NM_201384.3(PLEC):c.174+10G>A
|
rs181850748
|
0.00030
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000088.4(COL1A1):c.1983+9G>C
|
rs201091992
|
0.00029
|
NM_000252.3(MTM1):c.582C>T (p.Leu194=)
|
rs367912069
|
0.00029
|
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)
|
rs75086141
|
0.00029
|
NM_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00029
|
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=)
|
rs139507276
|
0.00029
|
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=)
|
rs537472446
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His)
|
rs200168879
|
0.00029
|
NM_001077365.2(POMT1):c.1698+10C>A
|
rs184131819
|
0.00029
|
NM_001083962.2(TCF4):c.790-9T>C
|
rs373434281
|
0.00029
|
NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp)
|
rs555362569
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00029
|
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)
|
rs190021597
|
0.00029
|
NM_001267550.2(TTN):c.52008C>G (p.Val17336=)
|
rs144507270
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00029
|
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)
|
rs143992148
|
0.00029
|
NM_001378452.1(ITPR1):c.1380A>G (p.Leu460=)
|
rs375697840
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=)
|
rs368405302
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001961.4(EEF2):c.1470C>T (p.His490=)
|
rs201757568
|
0.00029
|
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)
|
rs145823996
|
0.00029
|
NM_004393.6(DAG1):c.286-10del
|
rs747305463
|
0.00029
|
NM_004621.6(TRPC6):c.888G>A (p.Thr296=)
|
rs144891994
|
0.00029
|
NM_005045.4(RELN):c.5643G>A (p.Leu1881=)
|
rs141387255
|
0.00029
|
NM_005477.3(HCN4):c.1656C>T (p.His552=)
|
rs148142070
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr)
|
rs145732065
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys)
|
rs145679691
|
0.00029
|
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=)
|
rs146841400
|
0.00029
|
NM_022489.4(INF2):c.639G>A (p.Ala213=)
|
rs149858291
|
0.00029
|
NM_024411.5(PDYN):c.67C>T (p.Leu23=)
|
rs77727400
|
0.00029
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00029
|
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)
|
rs200124857
|
0.00029
|
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala)
|
rs200821440
|
0.00029
|
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His)
|
rs75665958
|
0.00029
|
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)
|
rs138277154
|
0.00029
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00028
|
NM_000088.4(COL1A1):c.2613+13C>T
|
rs368380161
|
0.00028
|
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu)
|
rs150452037
|
0.00028
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
rs5742904
|
0.00028
|
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys)
|
rs369813654
|
0.00028
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00028
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
NM_001909.5(CTSD):c.1071+7G>A
|
rs374010531
|
0.00028
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00028
|
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)
|
rs142530390
|
0.00028
|
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn)
|
rs182708940
|
0.00028
|
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)
|
rs375217032
|
0.00028
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00028
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=)
|
rs369101323
|
0.00028
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00028
|
NM_000336.3(SCNN1B):c.880+10G>A
|
rs200089599
|
0.00027
|
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)
|
rs141956294
|
0.00027
|
NM_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
0.00027
|
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)
|
rs149331148
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00027
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00027
|
NM_001278064.2(GRM1):c.1602+9C>G
|
rs376313056
|
0.00027
|
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)
|
rs201151358
|
0.00027
|
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)
|
rs147087785
|
0.00027
|
NM_001614.5(ACTG1):c.126C>T (p.Gly42=)
|
rs11549197
|
0.00027
|
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)
|
rs139855779
|
0.00027
|
NM_006030.4(CACNA2D2):c.669T>C (p.Asn223=)
|
rs141327265
|
0.00027
|
NM_013382.7(POMT2):c.66C>T (p.Gly22=)
|
rs200670377
|
0.00027
|
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val)
|
rs142184584
|
0.00027
|
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=)
|
rs534974071
|
0.00027
|
NM_021942.6(TRAPPC11):c.1894-10C>T
|
rs111381550
|
0.00027
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_144672.4(OTOA):c.921G>A (p.Ala307=)
|
rs12051473
|
0.00027
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00027
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000144.5(FXN):c.179G>A (p.Arg60His)
|
rs141858334
|
0.00026
|
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)
|
rs201199086
|
0.00026
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00026
|
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)
|
rs148929192
|
0.00026
|
NM_000726.5(CACNB4):c.54C>A (p.Pro18=)
|
rs373222155
|
0.00026
|
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp)
|
rs536586062
|
0.00026
|
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val)
|
rs779745348
|
0.00026
|
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)
|
rs564570407
|
0.00026
|
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=)
|
rs115452236
|
0.00026
|
NM_001130438.3(SPTAN1):c.4595+4G>T
|
rs185925523
|
0.00026
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
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.78446C>G (p.Thr26149Ser)
|
rs191263181
|
0.00026
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)
|
rs201993443
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His)
|
rs199774340
|
0.00026
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)
|
rs796052453
|
0.00026
|
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr)
|
rs200473895
|
0.00026
|
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)
|
rs142917412
|
0.00026
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
NM_021625.5(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510
|
0.00026
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00026
|
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala)
|
rs200954103
|
0.00026
|
NM_198994.3(TGM6):c.1556A>C (p.Asn519Thr)
|
rs374219808
|
0.00026
|
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)
|
rs201030020
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00025
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00025
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00025
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00025
|
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)
|
rs147464577
|
0.00025
|
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val)
|
rs183084156
|
0.00025
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00025
|
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)
|
rs572036869
|
0.00025
|
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)
|
rs143844598
|
0.00025
|
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)
|
rs201566142
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=)
|
rs369467841
|
0.00025
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00025
|
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=)
|
rs201311531
|
0.00025
|
NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=)
|
rs144178989
|
0.00025
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00025
|
NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly)
|
rs201994402
|
0.00025
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=)
|
rs371397998
|
0.00025
|
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)
|
rs139133094
|
0.00025
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00025
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln)
|
rs368078459
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val)
|
rs369045579
|
0.00025
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
NM_198994.3(TGM6):c.940G>A (p.Val314Met)
|
rs202184911
|
0.00025
|
NM_201384.3(PLEC):c.4221G>A (p.Ala1407=)
|
rs185790521
|
0.00025
|
NM_000026.4(ADSL):c.649C>G (p.His217Asp)
|
rs199761158
|
0.00024
|
NM_000098.3(CPT2):c.1422C>A (p.Ala474=)
|
rs192779168
|
0.00024
|
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
|
rs200274258
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp)
|
rs143411026
|
0.00024
|
NM_000435.3(NOTCH3):c.6573G>A (p.Pro2191=)
|
rs576653145
|
0.00024
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00024
|
NM_000548.5(TSC2):c.2451C>T (p.Asp817=)
|
rs201442542
|
0.00024
|
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys)
|
rs145906459
|
0.00024
|
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)
|
rs375858093
|
0.00024
|
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)
|
rs149987700
|
0.00024
|
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)
|
rs146482011
|
0.00024
|
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=)
|
rs560856407
|
0.00024
|
NM_001244008.2(KIF1A):c.4744-5C>T
|
rs117815481
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His)
|
rs150304459
|
0.00024
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_002739.5(PRKCG):c.1281+9G>C
|
rs370400523
|
0.00024
|
NM_003482.4(KMT2D):c.14635C>T (p.Leu4879=)
|
rs368094058
|
0.00024
|
NM_003680.4(YARS1):c.510+10G>C
|
rs201272488
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_004977.3(KCNC3):c.579C>G (p.Arg193=)
|
rs138237939
|
0.00024
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00024
|
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)
|
rs372508479
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln)
|
rs532223684
|
0.00024
|
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)
|
rs200719553
|
0.00024
|
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=)
|
rs369686818
|
0.00024
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)
|
rs201069314
|
0.00024
|
NM_201384.3(PLEC):c.2268C>T (p.Thr756=)
|
rs371267446
|
0.00024
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00023
|
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser)
|
rs772037564
|
0.00023
|
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213
|
0.00023
|
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=)
|
rs45517381
|
0.00023
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00023
|
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp)
|
rs551353498
|
0.00023
|
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
|
rs773401427
|
0.00023
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00023
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=)
|
rs367814655
|
0.00023
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00023
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00023
|
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=)
|
rs145176345
|
0.00023
|
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)
|
rs201589586
|
0.00023
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
NM_014363.6(SACS):c.1884C>T (p.Pro628=)
|
rs144468379
|
0.00023
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00023
|
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)
|
rs201883464
|
0.00023
|
NM_198904.4(GABRG2):c.922+6A>G
|
rs375294947
|
0.00023
|
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)
|
rs759030267
|
0.00023
|
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)
|
rs199990259
|
0.00023
|
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His)
|
rs4915212
|
0.00022
|
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)
|
rs141717649
|
0.00022
|
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=)
|
rs146450504
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00022
|
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00022
|
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326
|
0.00022
|
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)
|
rs143517122
|
0.00022
|
NM_000435.3(NOTCH3):c.6504G>C (p.Val2168=)
|
rs546608637
|
0.00022
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr)
|
rs761368099
|
0.00022
|
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser)
|
rs150710956
|
0.00022
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)
|
rs142336788
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
|
rs148355969
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00022
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00022
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=)
|
rs368449473
|
0.00022
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
NM_002296.4(LBR):c.899A>G (p.Tyr300Cys)
|
rs2230422
|
0.00022
|
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)
|
rs754765424
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_006946.4(SPTBN2):c.4800G>A (p.Ala1600=)
|
rs146007976
|
0.00022
|
NM_013275.6(ANKRD11):c.2148A>G (p.Lys716=)
|
rs371050776
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys)
|
rs149335528
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser)
|
rs560915333
|
0.00022
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00022
|
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)
|
rs150157112
|
0.00022
|
NM_170665.4(ATP2A2):c.2310A>G (p.Glu770=)
|
rs139120653
|
0.00022
|
NM_181882.3(PRX):c.993G>A (p.Pro331=)
|
rs146323928
|
0.00022
|
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)
|
rs140118684
|
0.00022
|
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)
|
rs372256096
|
0.00022
|
NM_000088.4(COL1A1):c.299-15C>T
|
rs199523510
|
0.00021
|
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=)
|
rs374749325
|
0.00021
|
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala)
|
rs147183887
|
0.00021
|
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=)
|
rs567071026
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=)
|
rs372812865
|
0.00021
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
NM_001244710.2(GFPT1):c.223+5C>T
|
rs200631666
|
0.00021
|
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr)
|
rs145733370
|
0.00021
|
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=)
|
rs201129413
|
0.00021
|
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr)
|
rs150137596
|
0.00021
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)
|
rs199670463
|
0.00021
|
NM_001376.5(DYNC1H1):c.4075-6C>T
|
rs377411812
|
0.00021
|
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=)
|
rs200487406
|
0.00021
|
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=)
|
rs371986594
|
0.00021
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_002047.4(GARS1):c.51G>A (p.Leu17=)
|
rs202117737
|
0.00021
|
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu)
|
rs200578414
|
0.00021
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00021
|
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)
|
rs138766015
|
0.00021
|
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)
|
rs376219874
|
0.00021
|
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp)
|
rs142378119
|
0.00021
|
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)
|
rs144303334
|
0.00021
|
NM_023110.3(FGFR1):c.168G>A (p.Arg56=)
|
rs147482922
|
0.00021
|
NM_024306.5(FA2H):c.271-8C>A
|
rs199610820
|
0.00021
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00021
|
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_173500.4(TTBK2):c.1127G>A (p.Arg376His)
|
rs368815985
|
0.00021
|
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)
|
rs199635198
|
0.00021
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn)
|
rs150464227
|
0.00021
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00021
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00021
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
NM_182961.4(SYNE1):c.8005-3C>T
|
rs117084693
|
0.00021
|
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)
|
rs375097273
|
0.00021
|
NM_201384.3(PLEC):c.2140A>G (p.Ile714Val)
|
rs189137260
|
0.00021
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00020
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
NM_001034116.2(EIF2B4):c.372A>G (p.Gly124=)
|
rs141872864
|
0.00020
|
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
|
rs200603552
|
0.00020
|
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)
|
rs768129470
|
0.00020
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln)
|
rs371628882
|
0.00020
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001278064.2(GRM1):c.2725A>C (p.Met909Leu)
|
rs138759146
|
0.00020
|
NM_001370298.3(FGD4):c.1923-7A>G
|
rs200542541
|
0.00020
|
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe)
|
rs201695275
|
0.00020
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
NM_002055.5(GFAP):c.676G>A (p.Val226Met)
|
rs149883728
|
0.00020
|
NM_004006.3(DMD):c.1809G>A (p.Leu603=)
|
rs192176661
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys)
|
rs200789237
|
0.00020
|
NM_004738.5(VAPB):c.492C>T (p.Thr164=)
|
rs139884809
|
0.00020
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00020
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00020
|
NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln)
|
rs749281906
|
0.00020
|
NM_006946.4(SPTBN2):c.5314G>A (p.Val1772Met)
|
rs200189497
|
0.00020
|
NM_015046.7(SETX):c.1392A>G (p.Ser464=)
|
rs144164119
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn)
|
rs200654820
|
0.00020
|
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)
|
rs72650764
|
0.00020
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)
|
rs145999595
|
0.00020
|
NM_130837.3(OPA1):c.88C>T (p.Leu30=)
|
rs185976555
|
0.00020
|
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr)
|
rs138644399
|
0.00020
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00020
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00020
|
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)
|
rs150727562
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)
|
rs150878397
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00019
|
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln)
|
rs754817283
|
0.00019
|
NM_000217.3(KCNA1):c.60G>C (p.Gln20His)
|
rs201504073
|
0.00019
|
NM_000218.3(KCNQ1):c.386+16216G>A
|
rs201090517
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys)
|
rs139351727
|
0.00019
|
NM_000435.3(NOTCH3):c.5114+10C>G
|
rs369547319
|
0.00019
|
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)
|
rs188598190
|
0.00019
|
NM_000454.5(SOD1):c.239+6A>C
|
rs374610141
|
0.00019
|
NM_000530.8(MPZ):c.51G>A (p.Leu17=)
|
rs149637045
|
0.00019
|
NM_000726.5(CACNB4):c.*4T>C
|
rs556761275
|
0.00019
|
NM_001002295.2(GATA3):c.216G>T (p.Val72=)
|
rs560531559
|
0.00019
|
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val)
|
rs765067070
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)
|
rs376641545
|
0.00019
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=)
|
rs201230929
|
0.00019
|
NM_001127222.2(CACNA1A):c.6339+10G>C
|
rs376238265
|
0.00019
|
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)
|
rs559839676
|
0.00019
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
NM_001178015.2(SLC4A10):c.1443-8del
|
rs771107746
|
0.00019
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met)
|
rs556147064
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala)
|
rs145940356
|
0.00019
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)
|
rs142907833
|
0.00019
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001378452.1(ITPR1):c.4164C>T (p.Val1388=)
|
rs375770679
|
0.00019
|
NM_001378452.1(ITPR1):c.7701+3A>G
|
rs533303665
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00019
|
NM_001961.4(EEF2):c.288C>T (p.Ala96=)
|
rs369558753
|
0.00019
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00019
|
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys)
|
rs563335387
|
0.00019
|
NM_004086.3(COCH):c.22G>A (p.Ala8Thr)
|
rs200935305
|
0.00019
|
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile)
|
rs367976914
|
0.00019
|
NM_004977.3(KCNC3):c.2013G>A (p.Ala671=)
|
rs201255011
|
0.00019
|
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)
|
rs148325203
|
0.00019
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00019
|
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)
|
rs150532740
|
0.00019
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser)
|
rs142482393
|
0.00019
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00019
|
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)
|
rs200340910
|
0.00019
|
NM_020247.5(COQ8A):c.1332C>T (p.Thr444=)
|
rs138727410
|
0.00019
|
NM_021942.6(TRAPPC11):c.2196T>C (p.Asn732=)
|
rs375844076
|
0.00019
|
NM_032409.3(PINK1):c.858G>A (p.Pro286=)
|
rs148144773
|
0.00019
|
NM_145239.3(PRRT2):c.225G>A (p.Pro75=)
|
rs199662641
|
0.00019
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)
|
rs143034104
|
0.00019
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr)
|
rs60185966
|
0.00019
|
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr)
|
rs150088385
|
0.00019
|
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)
|
rs201211875
|
0.00019
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=)
|
rs151328660
|
0.00018
|
NM_000162.5(GCK):c.208+16C>T
|
rs377747439
|
0.00018
|
NM_000166.6(GJB1):c.30C>T (p.Leu10=)
|
rs183702021
|
0.00018
|
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=)
|
rs371401377
|
0.00018
|
NM_000458.4(HNF1B):c.852C>T (p.His284=)
|
rs149581999
|
0.00018
|
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)
|
rs201409107
|
0.00018
|
NM_001127222.2(CACNA1A):c.784+10C>T
|
rs781363787
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)
|
rs199957886
|
0.00018
|
NM_001244008.2(KIF1A):c.882+8G>A
|
rs376552408
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00018
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00018
|
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)
|
rs558830502
|
0.00018
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00018
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00018
|
NM_001378452.1(ITPR1):c.4843-7G>A
|
rs184969640
|
0.00018
|
NM_001378452.1(ITPR1):c.997-6C>T
|
rs139421901
|
0.00018
|
NM_001378969.1(KCND3):c.789C>T (p.Asp263=)
|
rs373264592
|
0.00018
|
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)
|
rs72466489
|
0.00018
|
NM_004098.4(EMX2):c.591+6T>C
|
rs202171958
|
0.00018
|
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)
|
rs115035120
|
0.00018
|
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)
|
rs760663911
|
0.00018
|
NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr)
|
rs190391786
|
0.00018
|
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)
|
rs144896235
|
0.00018
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00018
|
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=)
|
rs1143559
|
0.00018
|
NM_006922.4(SCN3A):c.363T>C (p.Ala121=)
|
rs145171998
|
0.00018
|
NM_006946.4(SPTBN2):c.3516C>T (p.His1172=)
|
rs149829140
|
0.00018
|
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met)
|
rs201214320
|
0.00018
|
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)
|
rs143780942
|
0.00018
|
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile)
|
rs143536408
|
0.00018
|
NM_022464.5(SIL1):c.1232G>A (p.Arg411His)
|
rs192255604
|
0.00018
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00018
|
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys)
|
rs199955493
|
0.00018
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)
|
rs201855218
|
0.00018
|
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)
|
rs138344683
|
0.00018
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00017
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00017
|
NM_000162.5(GCK):c.-17C>T
|
rs190731555
|
0.00017
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=)
|
rs555242193
|
0.00017
|
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser)
|
rs187055074
|
0.00017
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)
|
rs193922546
|
0.00017
|
NM_000545.8(HNF1A):c.1500C>T (p.His500=)
|
rs201694197
|
0.00017
|
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser)
|
rs377129682
|
0.00017
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00017
|
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)
|
rs398124212
|
0.00017
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
0.00017
|
NM_001099922.3(ALG13):c.383+1033G>A
|
rs772039609
|
0.00017
|
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)
|
rs374555263
|
0.00017
|
NM_001127222.2(CACNA1A):c.4591-9C>G
|
rs16032
|
0.00017
|
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=)
|
rs932173199
|
0.00017
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00017
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00017
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00017
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00017
|
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe)
|
rs371080525
|
0.00017
|
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=)
|
rs112811548
|
0.00017
|
NM_001378969.1(KCND3):c.1106+10C>T
|
rs377267051
|
0.00017
|
NM_001378969.1(KCND3):c.459G>A (p.Ser153=)
|
rs755206508
|
0.00017
|
NM_001961.4(EEF2):c.633C>T (p.Thr211=)
|
rs144298597
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=)
|
rs150470670
|
0.00017
|
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr)
|
rs200243548
|
0.00017
|
NM_004393.6(DAG1):c.1308G>A (p.Thr436=)
|
rs143763229
|
0.00017
|
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)
|
rs199942544
|
0.00017
|
NM_006946.4(SPTBN2):c.168A>G (p.Glu56=)
|
rs145112518
|
0.00017
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
|
rs375968367
|
0.00017
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00017
|
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)
|
rs372517211
|
0.00017
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00017
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00017
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00017
|
NM_018109.4(MTPAP):c.1313-3C>T
|
rs201064853
|
0.00017
|
NM_018319.4(TDP1):c.379A>G (p.Thr127Ala)
|
rs200900192
|
0.00017
|
NM_021098.3(CACNA1H):c.2604-5C>T
|
rs191783113
|
0.00017
|
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)
|
rs200724225
|
0.00017
|
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)
|
rs146082509
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn)
|
rs556999563
|
0.00017
|
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)
|
rs1342864499
|
0.00017
|
NM_170665.4(ATP2A2):c.1287+3A>G
|
rs376753206
|
0.00017
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=)
|
rs782412831
|
0.00017
|
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)
|
rs201278290
|
0.00017
|
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln)
|
rs561571844
|
0.00017
|
NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)
|
rs782605503
|
0.00017
|
NM_201384.3(PLEC):c.801C>T (p.Asp267=)
|
rs202218097
|
0.00017
|
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)
|
rs145747513
|
0.00016
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
NM_000209.4(PDX1):c.210G>T (p.Val70=)
|
rs748725637
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000334.4(SCN4A):c.963C>T (p.Asn321=)
|
rs748863960
|
0.00016
|
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)
|
rs192863214
|
0.00016
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=)
|
rs140567100
|
0.00016
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00016
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=)
|
rs150209984
|
0.00016
|
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=)
|
rs370541345
|
0.00016
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)
|
rs121918802
|
0.00016
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)
|
rs200914097
|
0.00016
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00016
|
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg)
|
rs181766682
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001378452.1(ITPR1):c.2007-7T>G
|
rs764512335
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_001961.4(EEF2):c.543C>T (p.Ile181=)
|
rs202047073
|
0.00016
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00016
|
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)
|
rs371444130
|
0.00016
|
NM_004172.5(SLC1A3):c.1425-8G>C
|
rs202233020
|
0.00016
|
NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly)
|
rs201069745
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_004977.3(KCNC3):c.871-4G>T
|
rs112673820
|
0.00016
|
NM_004984.4(KIF5A):c.2040G>A (p.Val680=)
|
rs117670788
|
0.00016
|
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)
|
rs149683345
|
0.00016
|
NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr)
|
rs139719757
|
0.00016
|
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met)
|
rs146462440
|
0.00016
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=)
|
rs143537378
|
0.00016
|
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg)
|
rs202081167
|
0.00016
|
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=)
|
rs140748364
|
0.00016
|
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=)
|
rs201821131
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00016
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00016
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_020247.5(COQ8A):c.730+7C>T
|
rs370924314
|
0.00016
|
NM_020919.4(ALS2):c.1578A>G (p.Thr526=)
|
rs147284131
|
0.00016
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr)
|
rs370671656
|
0.00016
|
NM_080680.3(COL11A2):c.4863+7G>A
|
rs200947059
|
0.00016
|
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
|
rs111488647
|
0.00016
|
NM_152296.5(ATP1A3):c.6+3A>G
|
rs369853936
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00016
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00016
|
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)
|
rs782202249
|
0.00016
|
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)
|
rs373952777
|
0.00016
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00015
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00015
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00015
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000085.5(CLCNKB):c.656-9C>T
|
rs201510495
|
0.00015
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00015
|
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=)
|
rs146662137
|
0.00015
|
NM_000142.5(FGFR3):c.930+10C>T
|
rs534857289
|
0.00015
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
NM_000217.3(KCNA1):c.114C>T (p.Arg38=)
|
rs146308797
|
0.00015
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00015
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)
|
rs71651693
|
0.00015
|
NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
|
rs147579870
|
0.00015
|
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu)
|
rs200802985
|
0.00015
|
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
|
rs201718767
|
0.00015
|
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=)
|
rs141344823
|
0.00015
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00015
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00015
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00015
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00015
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00015
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00015
|
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=)
|
rs140154194
|
0.00015
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00015
|
NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=)
|
rs187516662
|
0.00015
|
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)
|
rs569940067
|
0.00015
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
NM_001961.4(EEF2):c.741C>T (p.Ala247=)
|
rs150801930
|
0.00015
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799
|
0.00015
|
NM_002087.4(GRN):c.705C>A (p.Pro235=)
|
rs148507354
|
0.00015
|
NM_003482.4(KMT2D):c.14193G>A (p.Glu4731=)
|
rs368920289
|
0.00015
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00015
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00015
|
NM_004006.3(DMD):c.1761A>G (p.Thr587=)
|
rs370103963
|
0.00015
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00015
|
NM_004172.5(SLC1A3):c.182-8T>C
|
rs758803628
|
0.00015
|
NM_004977.3(KCNC3):c.1941G>A (p.Pro647=)
|
rs777792401
|
0.00015
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00015
|
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser)
|
rs140899287
|
0.00015
|
NM_018136.5(ASPM):c.2761-11T>C
|
rs368239890
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=)
|
rs139179261
|
0.00015
|
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)
|
rs121913126
|
0.00015
|
NM_024301.5(FKRP):c.336C>T (p.Ala112=)
|
rs1054339656
|
0.00015
|
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg)
|
rs201585283
|
0.00015
|
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=)
|
rs552113529
|
0.00015
|
NM_145239.3(PRRT2):c.-30T>C
|
rs202072359
|
0.00015
|
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)
|
rs199573774
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00015
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=)
|
rs35808389
|
0.00015
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)
|
rs368152307
|
0.00015
|
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys)
|
rs200652637
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)
|
rs377474103
|
0.00014
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246
|
0.00014
|
NM_000216.4(ANOS1):c.1698C>T (p.Thr566=)
|
rs145982109
|
0.00014
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)
|
rs141950826
|
0.00014
|
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)
|
rs140483001
|
0.00014
|
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=)
|
rs552265898
|
0.00014
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=)
|
rs200346578
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00014
|
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His)
|
rs568163462
|
0.00014
|
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)
|
rs751833365
|
0.00014
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=)
|
rs373192672
|
0.00014
|
NM_001127222.2(CACNA1A):c.5840-7C>T
|
rs372261381
|
0.00014
|
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)
|
rs745609731
|
0.00014
|
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)
|
rs17846908
|
0.00014
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=)
|
rs368200727
|
0.00014
|
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)
|
rs149715258
|
0.00014
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00014
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)
|
rs376823283
|
0.00014
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
0.00014
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00014
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00014
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00014
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001367561.1(DOCK7):c.3300+8A>G
|
rs368422761
|
0.00014
|
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=)
|
rs375533002
|
0.00014
|
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)
|
rs201263269
|
0.00014
|
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)
|
rs369681244
|
0.00014
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00014
|
NM_003482.4(KMT2D):c.14829G>A (p.Glu4943=)
|
rs374958373
|
0.00014
|
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)
|
rs369436545
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
0.00014
|
NM_005477.3(HCN4):c.1738-6C>T
|
rs760763085
|
0.00014
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00014
|
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys)
|
rs141021167
|
0.00014
|
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=)
|
rs142480868
|
0.00014
|
NM_006946.4(SPTBN2):c.4485C>T (p.Arg1495=)
|
rs145930414
|
0.00014
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00014
|
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val)
|
rs150026260
|
0.00014
|
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)
|
rs147097934
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)
|
rs368201539
|
0.00014
|
NM_024411.5(PDYN):c.716G>A (p.Arg239Gln)
|
rs185551108
|
0.00014
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00014
|
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys)
|
rs527763642
|
0.00014
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00014
|
NM_198994.3(TGM6):c.632G>A (p.Arg211His)
|
rs192045738
|
0.00014
|
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)
|
rs559510708
|
0.00014
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)
|
rs149316679
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00013
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_000435.3(NOTCH3):c.6300G>A (p.Ser2100=)
|
rs183839795
|
0.00013
|
NM_000451.4(SHOX):c.547G>A (p.Val183Ile)
|
rs752189039
|
0.00013
|
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)
|
rs762394421
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00013
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met)
|
rs778055216
|
0.00013
|
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)
|
rs200916353
|
0.00013
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00013
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)
|
rs372802604
|
0.00013
|
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe)
|
rs200587998
|
0.00013
|
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln)
|
rs761660130
|
0.00013
|
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu)
|
rs537578226
|
0.00013
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00013
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001347721.2(DYRK1A):c.489+9A>G
|
rs187936450
|
0.00013
|
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile)
|
rs752031193
|
0.00013
|
NM_001378969.1(KCND3):c.696G>A (p.Ala232=)
|
rs370453605
|
0.00013
|
NM_001379200.1(TBX1):c.594G>A (p.Thr198=)
|
rs138724943
|
0.00013
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00013
|
NM_001961.4(EEF2):c.2133C>T (p.Ala711=)
|
rs374126801
|
0.00013
|
NM_001961.4(EEF2):c.2313C>T (p.Phe771=)
|
rs140987549
|
0.00013
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)
|
rs200814534
|
0.00013
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00013
|
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys)
|
rs373448635
|
0.00013
|
NM_006790.3(MYOT):c.342C>T (p.Ser114=)
|
rs34593399
|
0.00013
|
NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln)
|
rs149992317
|
0.00013
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00013
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
NM_015915.5(ATL1):c.1173C>T (p.His391=)
|
rs149340140
|
0.00013
|
NM_018105.3(THAP1):c.489C>G (p.Leu163=)
|
rs150542583
|
0.00013
|
NM_018109.4(MTPAP):c.916T>C (p.Leu306=)
|
rs191209359
|
0.00013
|
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=)
|
rs148964635
|
0.00013
|
NM_020247.5(COQ8A):c.1572+7G>A
|
rs371874740
|
0.00013
|
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)
|
rs141423403
|
0.00013
|
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)
|
rs754836509
|
0.00013
|
NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe)
|
rs371538715
|
0.00013
|
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)
|
rs764753481
|
0.00013
|
NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser)
|
rs200010694
|
0.00013
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00013
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00013
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00013
|
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp)
|
rs148854519
|
0.00013
|
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)
|
rs397516054
|
0.00012
|
NM_000257.4(MYH7):c.240C>T (p.Asn80=)
|
rs200493975
|
0.00012
|
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)
|
rs200263975
|
0.00012
|
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln)
|
rs182531866
|
0.00012
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00012
|
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu)
|
rs146810942
|
0.00012
|
NM_000451.4(SHOX):c.698C>T (p.Ala233Val)
|
rs750375727
|
0.00012
|
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)
|
rs193922545
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val)
|
rs138712375
|
0.00012
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00012
|
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)
|
rs184923756
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)
|
rs115303497
|
0.00012
|
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)
|
rs372802352
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
0.00012
|
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)
|
rs200815347
|
0.00012
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys)
|
rs200532657
|
0.00012
|
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)
|
rs201999373
|
0.00012
|
NM_002547.3(OPHN1):c.12C>G (p.Pro4=)
|
rs139546241
|
0.00012
|
NM_004082.5(DCTN1):c.3501C>T (p.His1167=)
|
rs569997015
|
0.00012
|
NM_004172.5(SLC1A3):c.796G>A (p.Ala266Thr)
|
rs146929198
|
0.00012
|
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=)
|
rs201786788
|
0.00012
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)
|
rs201491948
|
0.00012
|
NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=)
|
rs369970075
|
0.00012
|
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)
|
rs199789331
|
0.00012
|
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=)
|
rs377439463
|
0.00012
|
NM_006946.4(SPTBN2):c.5310C>G (p.Ala1770=)
|
rs142489577
|
0.00012
|
NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=)
|
rs199624385
|
0.00012
|
NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu)
|
rs199880827
|
0.00012
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
NM_014363.6(SACS):c.7641A>G (p.Lys2547=)
|
rs780021681
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
0.00012
|
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn)
|
rs748648178
|
0.00012
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00012
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00012
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00012
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00012
|
NM_000051.4(ATM):c.6348-8T>C
|
rs730881292
|
0.00011
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00011
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)
|
rs544082594
|
0.00011
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=)
|
rs191840835
|
0.00011
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile)
|
rs142007575
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000545.8(HNF1A):c.1624-19G>A
|
rs193922586
|
0.00011
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)
|
rs782697291
|
0.00011
|
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)
|
rs200300686
|
0.00011
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=)
|
rs745336852
|
0.00011
|
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=)
|
rs113441525
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)
|
rs587780850
|
0.00011
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00011
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)
|
rs145709534
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00011
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)
|
rs138958733
|
0.00011
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00011
|
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)
|
rs370769662
|
0.00011
|
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)
|
rs200544701
|
0.00011
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=)
|
rs375227391
|
0.00011
|
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
|
rs1049324
|
0.00011
|
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)
|
rs781133776
|
0.00011
|
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)
|
rs199653123
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser)
|
rs200480185
|
0.00011
|
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)
|
rs369466037
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00011
|
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=)
|
rs375527461
|
0.00011
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00011
|
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile)
|
rs199894361
|
0.00011
|
NM_004393.6(DAG1):c.219C>T (p.Val73=)
|
rs145165301
|
0.00011
|
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=)
|
rs15594
|
0.00011
|
NM_004977.3(KCNC3):c.1767C>T (p.His589=)
|
rs778272834
|
0.00011
|
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)
|
rs927538730
|
0.00011
|
NM_004977.3(KCNC3):c.1991A>G (p.Asn664Ser)
|
rs199833067
|
0.00011
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=)
|
rs552716935
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_006158.5(NEFL):c.1458C>T (p.Ala486=)
|
rs61726486
|
0.00011
|
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)
|
rs558572111
|
0.00011
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00011
|
NM_006946.4(SPTBN2):c.5339A>G (p.Asn1780Ser)
|
rs375849761
|
0.00011
|
NM_013382.7(POMT2):c.648C>T (p.Cys216=)
|
rs147871747
|
0.00011
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00011
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356
|
0.00011
|
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)
|
rs150430170
|
0.00011
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00011
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
NM_018451.5(CPAP):c.3803G>A (p.Gly1268Asp)
|
rs151090294
|
0.00011
|
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=)
|
rs36006006
|
0.00011
|
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=)
|
rs372250372
|
0.00011
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
NM_025137.4(SPG11):c.5608T>C (p.Leu1870=)
|
rs4254299
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
|
rs372350188
|
0.00011
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
0.00011
|
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)
|
rs143717863
|
0.00011
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00011
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00011
|
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg)
|
rs373500080
|
0.00011
|
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)
|
rs36104367
|
0.00011
|
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln)
|
rs202200597
|
0.00011
|
NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser)
|
rs199827801
|
0.00011
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00011
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
|
rs143644029
|
0.00011
|
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)
|
rs757868774
|
0.00011
|
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)
|
rs201163149
|
0.00011
|
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)
|
rs782756146
|
0.00011
|
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)
|
rs374590279
|
0.00011
|
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)
|
rs576688705
|
0.00011
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00011
|
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)
|
rs200618217
|
0.00011
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00011
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)
|
rs201029006
|
0.00010
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00010
|
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=)
|
rs534861830
|
0.00010
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met)
|
rs756495084
|
0.00010
|
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=)
|
rs148283249
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)
|
rs373709706
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00010
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00010
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00010
|
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=)
|
rs752309744
|
0.00010
|
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=)
|
rs201886024
|
0.00010
|
NM_001458.5(FLNC):c.2382G>A (p.Ala794=)
|
rs536456072
|
0.00010
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00010
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00010
|
NM_001961.4(EEF2):c.627C>T (p.Leu209=)
|
rs145155508
|
0.00010
|
NM_001961.4(EEF2):c.810C>T (p.Asn270=)
|
rs201754413
|
0.00010
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
NM_005045.4(RELN):c.1344C>G (p.Gly448=)
|
rs144150588
|
0.00010
|
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His)
|
rs189089389
|
0.00010
|
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=)
|
rs374708543
|
0.00010
|
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)
|
rs142996063
|
0.00010
|
NM_005629.4(SLC6A8):c.912+9G>A
|
rs782694291
|
0.00010
|
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00010
|
NM_006946.4(SPTBN2):c.2382G>A (p.Glu794=)
|
rs368173749
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val)
|
rs202209141
|
0.00010
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00010
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
0.00010
|
NM_014918.5(CHSY1):c.489G>A (p.Lys163=)
|
rs146047900
|
0.00010
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00010
|
NM_018972.4(GDAP1):c.72T>C (p.Val24=)
|
rs142674939
|
0.00010
|
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp)
|
rs201331131
|
0.00010
|
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=)
|
rs543820987
|
0.00010
|
NM_021098.3(CACNA1H):c.2907+9C>T
|
rs200631961
|
0.00010
|
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)
|
rs58033848
|
0.00010
|
NM_022464.5(SIL1):c.849C>T (p.Leu283=)
|
rs372816951
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069
|
0.00010
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00010
|
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)
|
rs201964421
|
0.00010
|
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)
|
rs368745985
|
0.00010
|
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)
|
rs143920565
|
0.00010
|
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)
|
rs146600566
|
0.00010
|
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys)
|
rs150105416
|
0.00010
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg)
|
rs375595045
|
0.00010
|
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)
|
rs537994918
|
0.00010
|
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)
|
rs573424409
|
0.00010
|
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)
|
rs372400636
|
0.00010
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00010
|
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)
|
rs201460864
|
0.00010
|
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=)
|
rs747812668
|
0.00010
|
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met)
|
rs200241873
|
0.00010
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00009
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00009
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
NM_000144.5(FXN):c.384+8T>C
|
rs367974156
|
0.00009
|
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=)
|
rs188818227
|
0.00009
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00009
|
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)
|
rs201171029
|
0.00009
|
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)
|
rs766463226
|
0.00009
|
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=)
|
rs181494727
|
0.00009
|
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000435.3(NOTCH3):c.1854A>G (p.Glu618=)
|
rs150438748
|
0.00009
|
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met)
|
rs373181668
|
0.00009
|
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=)
|
rs927758025
|
0.00009
|
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr)
|
rs377589088
|
0.00009
|
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)
|
rs374517238
|
0.00009
|
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)
|
rs776608168
|
0.00009
|
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)
|
rs773391545
|
0.00009
|
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=)
|
rs1806200
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00009
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00009
|
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)
|
rs373973880
|
0.00009
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys)
|
rs199998986
|
0.00009
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)
|
rs542575761
|
0.00009
|
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=)
|
rs369466156
|
0.00009
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
|
rs370889765
|
0.00009
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00009
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His)
|
rs199598066
|
0.00009
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)
|
rs372685222
|
0.00009
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)
|
rs753966916
|
0.00009
|
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val)
|
rs750806089
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)
|
rs759474127
|
0.00009
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
NM_001378452.1(ITPR1):c.7926A>G (p.Glu2642=)
|
rs763498610
|
0.00009
|
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)
|
rs150934088
|
0.00009
|
NM_001378969.1(KCND3):c.207G>A (p.Thr69=)
|
rs751347311
|
0.00009
|
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)
|
rs62640033
|
0.00009
|
NM_002739.5(PRKCG):c.1738C>T (p.Arg580Trp)
|
rs149266855
|
0.00009
|
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)
|
rs35111108
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)
|
rs758320436
|
0.00009
|
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)
|
rs200328073
|
0.00009
|
NM_004977.3(KCNC3):c.1080C>T (p.Thr360=)
|
rs142937043
|
0.00009
|
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln)
|
rs199422214
|
0.00009
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)
|
rs201966169
|
0.00009
|
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=)
|
rs150837212
|
0.00009
|
NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=)
|
rs368022952
|
0.00009
|
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=)
|
rs141552965
|
0.00009
|
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His)
|
rs370690185
|
0.00009
|
NM_014141.6(CNTNAP2):c.402+8A>G
|
rs201311931
|
0.00009
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00009
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
NM_018109.4(MTPAP):c.1736G>A (p.Ser579Asn)
|
rs148562969
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln)
|
rs138498390
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_144599.5(NIPA1):c.266C>T (p.Ala89Val)
|
rs548931873
|
0.00009
|
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe)
|
rs748430621
|
0.00009
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)
|
rs192936944
|
0.00009
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00009
|
NM_198994.3(TGM6):c.951C>T (p.Phe317=)
|
rs201333931
|
0.00009
|
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)
|
rs532234200
|
0.00009
|
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)
|
rs372840016
|
0.00009
|
NM_201384.3(PLEC):c.113-6C>T
|
rs782235036
|
0.00009
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00008
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00008
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
0.00008
|
NM_000368.5(TSC1):c.851G>A (p.Arg284His)
|
rs151309813
|
0.00008
|
NM_000435.3(NOTCH3):c.2995-6C>T
|
rs552141058
|
0.00008
|
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=)
|
rs374875084
|
0.00008
|
NM_001005361.3(DNM2):c.876G>A (p.Ser292=)
|
rs749140605
|
0.00008
|
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)
|
rs367546924
|
0.00008
|
NM_001097577.3(ANG):c.132C>T (p.Gly44=)
|
rs147701713
|
0.00008
|
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)
|
rs188212919
|
0.00008
|
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)
|
rs781823700
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)
|
rs377458008
|
0.00008
|
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)
|
rs755749925
|
0.00008
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
NM_001136472.2(LITAF):c.27G>A (p.Ala9=)
|
rs149518815
|
0.00008
|
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)
|
rs201733233
|
0.00008
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00008
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
NM_001267550.2(TTN):c.33742+8C>T
|
rs375939001
|
0.00008
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His)
|
rs539470256
|
0.00008
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00008
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00008
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=)
|
rs72648203
|
0.00008
|
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe)
|
rs755325663
|
0.00008
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)
|
rs200339812
|
0.00008
|
NM_001378452.1(ITPR1):c.6348C>T (p.Asn2116=)
|
rs182891619
|
0.00008
|
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
0.00008
|
NM_001851.6(COL9A1):c.166+5G>A
|
rs544432669
|
0.00008
|
NM_001961.4(EEF2):c.444C>T (p.Ala148=)
|
rs369366647
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)
|
rs527571090
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004463.3(FGD1):c.85G>C (p.Ala29Pro)
|
rs752282314
|
0.00008
|
NM_005529.7(HSPG2):c.1507+9G>A
|
rs371371189
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)
|
rs28937890
|
0.00008
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00008
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00008
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00008
|
NM_015046.7(SETX):c.4677A>G (p.Lys1559=)
|
rs200123129
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_015559.3(SETBP1):c.3481G>C (p.Asp1161His)
|
rs199578000
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_020247.5(COQ8A):c.794G>A (p.Arg265His)
|
rs199696414
|
0.00008
|
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser)
|
rs369127299
|
0.00008
|
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)
|
rs192561791
|
0.00008
|
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)
|
rs143242360
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)
|
rs201347313
|
0.00008
|
NM_182914.3(SYNE2):c.1218G>A (p.Met406Ile)
|
rs768665395
|
0.00008
|
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00008
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00008
|
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His)
|
rs200795874
|
0.00008
|
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)
|
rs369370495
|
0.00008
|
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)
|
rs373831849
|
0.00008
|
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)
|
rs201349099
|
0.00008
|
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)
|
rs149036408
|
0.00007
|
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)
|
rs200849753
|
0.00007
|
NM_000166.6(GJB1):c.-101C>T
|
rs961829342
|
0.00007
|
NM_000335.5(SCN5A):c.3537G>A (p.Ala1179=)
|
rs370990219
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His)
|
rs754726425
|
0.00007
|
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile)
|
rs150811543
|
0.00007
|
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=)
|
rs145425679
|
0.00007
|
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)
|
rs367707092
|
0.00007
|
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln)
|
rs372834264
|
0.00007
|
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=)
|
rs766274305
|
0.00007
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
0.00007
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00007
|
NM_000545.8(HNF1A):c.1502-14T>C
|
rs765596650
|
0.00007
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)
|
rs746910149
|
0.00007
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00007
|
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly)
|
rs372353067
|
0.00007
|
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)
|
rs368785509
|
0.00007
|
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr)
|
rs370078729
|
0.00007
|
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe)
|
rs550882549
|
0.00007
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
NM_001267550.2(TTN):c.561G>A (p.Ser187=)
|
rs141444282
|
0.00007
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00007
|
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)
|
rs181702963
|
0.00007
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)
|
rs201837579
|
0.00007
|
NM_001378452.1(ITPR1):c.2187C>T (p.Asp729=)
|
rs376805768
|
0.00007
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser)
|
rs201382676
|
0.00007
|
NM_002087.4(GRN):c.1742A>T (p.Asp581Val)
|
rs768223928
|
0.00007
|
NM_002296.4(LBR):c.837+4C>T
|
rs538103502
|
0.00007
|
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)
|
rs202244328
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)
|
rs78437096
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)
|
rs138085358
|
0.00007
|
NM_005477.3(HCN4):c.1243G>A (p.Val415Met)
|
rs201978086
|
0.00007
|
NM_006158.5(NEFL):c.279G>A (p.Gln93=)
|
rs60737254
|
0.00007
|
NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=)
|
rs777264204
|
0.00007
|
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val)
|
rs751351000
|
0.00007
|
NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=)
|
rs777698637
|
0.00007
|
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)
|
rs753324919
|
0.00007
|
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu)
|
rs140642213
|
0.00007
|
NM_007325.5(GRIA3):c.1772G>A (p.Arg591His)
|
rs769866687
|
0.00007
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00007
|
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His)
|
rs577915245
|
0.00007
|
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
|
rs371980996
|
0.00007
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)
|
rs200939906
|
0.00007
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00007
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_014363.6(SACS):c.6576C>T (p.Ile2192=)
|
rs145327845
|
0.00007
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00007
|
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro)
|
rs141168255
|
0.00007
|
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)
|
rs775883752
|
0.00007
|
NM_018075.5(ANO10):c.488C>T (p.Thr163Met)
|
rs201340219
|
0.00007
|
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp)
|
rs140694378
|
0.00007
|
NM_018109.4(MTPAP):c.486C>T (p.Arg162=)
|
rs150489876
|
0.00007
|
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=)
|
rs150569155
|
0.00007
|
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)
|
rs756185743
|
0.00007
|
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)
|
rs544885605
|
0.00007
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00007
|
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys)
|
rs567558964
|
0.00007
|
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)
|
rs371970388
|
0.00007
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
NM_130837.3(OPA1):c.1377+10T>C
|
rs200114656
|
0.00007
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp)
|
rs201326247
|
0.00007
|
NM_198994.3(TGM6):c.1668G>T (p.Gly556=)
|
rs781154109
|
0.00007
|
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)
|
rs369943756
|
0.00007
|
NM_201384.3(PLEC):c.5508G>A (p.Ala1836=)
|
rs782631413
|
0.00007
|
NM_000021.4(PSEN1):c.96T>C (p.Asn32=)
|
rs201759335
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
|
rs146696298
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=)
|
rs200010601
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
NM_000166.6(GJB1):c.671G>A (p.Arg224His)
|
rs201697702
|
0.00006
|
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)
|
rs368811155
|
0.00006
|
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)
|
rs368186423
|
0.00006
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000414.4(HSD17B4):c.58+190T>A
|
rs1001866915
|
0.00006
|
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=)
|
rs146904189
|
0.00006
|
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp)
|
rs1416152273
|
0.00006
|
NM_000435.3(NOTCH3):c.1840+8C>T
|
rs372100017
|
0.00006
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000435.3(NOTCH3):c.5937C>T (p.Ala1979=)
|
rs570392715
|
0.00006
|
NM_000435.3(NOTCH3):c.6010C>T (p.Leu2004=)
|
rs370927186
|
0.00006
|
NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys)
|
rs996150018
|
0.00006
|
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met)
|
rs115836330
|
0.00006
|
NM_000458.4(HNF1B):c.1339+17G>A
|
rs374854968
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser)
|
rs151256267
|
0.00006
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00006
|
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe)
|
rs771382752
|
0.00006
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=)
|
rs201302013
|
0.00006
|
NM_001037.5(SCN1B):c.448+8G>C
|
rs200222933
|
0.00006
|
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=)
|
rs200546427
|
0.00006
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)
|
rs554091859
|
0.00006
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)
|
rs375623472
|
0.00006
|
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=)
|
rs200850130
|
0.00006
|
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)
|
rs368834365
|
0.00006
|
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)
|
rs758111969
|
0.00006
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser)
|
rs779064623
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)
|
rs530959653
|
0.00006
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
NM_001267550.2(TTN):c.22241-5T>C
|
rs397517501
|
0.00006
|
NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile)
|
rs778014249
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00006
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly)
|
rs75458912
|
0.00006
|
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)
|
rs397517684
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)
|
rs775499341
|
0.00006
|
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)
|
rs188323108
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=)
|
rs780138157
|
0.00006
|
NM_001378452.1(ITPR1):c.7719T>A (p.Ala2573=)
|
rs375507523
|
0.00006
|
NM_001378452.1(ITPR1):c.8010C>T (p.Tyr2670=)
|
rs372433483
|
0.00006
|
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=)
|
rs559639511
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_001909.5(CTSD):c.111G>A (p.Ser37=)
|
rs535140505
|
0.00006
|
NM_001961.4(EEF2):c.153C>T (p.Ala51=)
|
rs373815379
|
0.00006
|
NM_001961.4(EEF2):c.15G>A (p.Thr5=)
|
rs192703161
|
0.00006
|
NM_001961.4(EEF2):c.522C>T (p.Leu174=)
|
rs555068664
|
0.00006
|
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)
|
rs181251337
|
0.00006
|
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly)
|
rs375401655
|
0.00006
|
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)
|
rs376683989
|
0.00006
|
NM_002693.3(POLG):c.1950-9T>C
|
rs780378329
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)
|
rs146936870
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg)
|
rs373792491
|
0.00006
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00006
|
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp)
|
rs185628977
|
0.00006
|
NM_004977.3(KCNC3):c.1752G>A (p.Pro584=)
|
rs1001882554
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_005591.4(MRE11):c.81G>A (p.Glu27=)
|
rs190031653
|
0.00006
|
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)
|
rs781948153
|
0.00006
|
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)
|
rs763664146
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=)
|
rs761143170
|
0.00006
|
NM_006941.4(SOX10):c.274G>C (p.Val92Leu)
|
rs142113652
|
0.00006
|
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys)
|
rs147422843
|
0.00006
|
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp)
|
rs763948508
|
0.00006
|
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln)
|
rs758312194
|
0.00006
|
NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=)
|
rs768135548
|
0.00006
|
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=)
|
rs371535973
|
0.00006
|
NM_006946.4(SPTBN2):c.6702C>T (p.Phe2234=)
|
rs773474294
|
0.00006
|
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=)
|
rs756780145
|
0.00006
|
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala)
|
rs761503297
|
0.00006
|
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)
|
rs200151282
|
0.00006
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
NM_014795.4(ZEB2):c.1221C>T (p.His407=)
|
rs144613207
|
0.00006
|
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)
|
rs942559171
|
0.00006
|
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln)
|
rs769189017
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018109.4(MTPAP):c.345C>T (p.Val115=)
|
rs548128535
|
0.00006
|
NM_020247.5(COQ8A):c.1081-6C>T
|
rs774626751
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=)
|
rs537431085
|
0.00006
|
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=)
|
rs201270662
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_032737.4(LMNB2):c.288C>T (p.Tyr96=)
|
rs201605408
|
0.00006
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00006
|
NM_033629.6(TREX1):c.219G>A (p.Pro73=)
|
rs778992418
|
0.00006
|
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)
|
rs141412861
|
0.00006
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_173500.4(TTBK2):c.441C>T (p.Phe147=)
|
rs754428166
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)
|
rs145738035
|
0.00006
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)
|
rs760256766
|
0.00006
|
NM_198994.3(TGM6):c.1303G>A (p.Val435Met)
|
rs769042038
|
0.00006
|
NM_201384.3(PLEC):c.21C>T (p.Arg7=)
|
rs550636795
|
0.00006
|
NM_201384.3(PLEC):c.2643G>A (p.Thr881=)
|
rs369973592
|
0.00006
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00005
|
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=)
|
rs376863448
|
0.00005
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00005
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_000219.6(KCNE1):c.24G>A (p.Ala8=)
|
rs144094344
|
0.00005
|
NM_000266.4(NDP):c.*3C>A
|
rs372300274
|
0.00005
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00005
|
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)
|
rs760067411
|
0.00005
|
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
|
rs770694096
|
0.00005
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00005
|
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=)
|
rs41312407
|
0.00005
|
NM_000370.3(TTPA):c.355A>G (p.Ile119Val)
|
rs766200402
|
0.00005
|
NM_000388.4(CASR):c.165G>A (p.Pro55=)
|
rs200018529
|
0.00005
|
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn)
|
rs370691060
|
0.00005
|
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met)
|
rs564452430
|
0.00005
|
NM_000435.3(NOTCH3):c.1973T>C (p.Ile658Thr)
|
rs779379912
|
0.00005
|
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu)
|
rs150866973
|
0.00005
|
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=)
|
rs200881673
|
0.00005
|
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)
|
rs748339634
|
0.00005
|
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)
|
rs544773641
|
0.00005
|
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
|
rs576516079
|
0.00005
|
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=)
|
rs367943979
|
0.00005
|
NM_000435.3(NOTCH3):c.963C>T (p.Ala321=)
|
rs538938551
|
0.00005
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
rs536638039
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00005
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00005
|
NM_000548.5(TSC2):c.2639+10C>T
|
rs137854378
|
0.00005
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00005
|
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)
|
rs753757610
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser)
|
rs747478031
|
0.00005
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00005
|
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=)
|
rs373678557
|
0.00005
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00005
|
NM_001130987.2(DYSF):c.5547-4C>T
|
rs373098428
|
0.00005
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)
|
rs151264767
|
0.00005
|
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)
|
rs774004409
|
0.00005
|
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu)
|
rs369508943
|
0.00005
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00005
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg)
|
rs148549746
|
0.00005
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00005
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln)
|
rs375693686
|
0.00005
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00005
|
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)
|
rs199652273
|
0.00005
|
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)
|
rs781572378
|
0.00005
|
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)
|
rs201379132
|
0.00005
|
NM_001278064.2(GRM1):c.3381G>A (p.Glu1127=)
|
rs77895673
|
0.00005
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994
|
0.00005
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser)
|
rs771272478
|
0.00005
|
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=)
|
rs542486327
|
0.00005
|
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser)
|
rs200927261
|
0.00005
|
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=)
|
rs371661663
|
0.00005
|
NM_001378452.1(ITPR1):c.7197G>A (p.Glu2399=)
|
rs538209212
|
0.00005
|
NM_001378452.1(ITPR1):c.7659C>T (p.Ser2553=)
|
rs200562410
|
0.00005
|
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)
|
rs190703406
|
0.00005
|
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)
|
rs186194682
|
0.00005
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter)
|
rs374843706
|
0.00005
|
NM_001961.4(EEF2):c.1989C>T (p.Thr663=)
|
rs745451916
|
0.00005
|
NM_001961.4(EEF2):c.282C>T (p.Asp94=)
|
rs527597574
|
0.00005
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00005
|
NM_002156.5(HSPD1):c.175-7C>T
|
rs374694909
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)
|
rs774880085
|
0.00005
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00005
|
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)
|
rs201378067
|
0.00005
|
NM_004006.3(DMD):c.1503A>G (p.Glu501=)
|
rs770464589
|
0.00005
|
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr)
|
rs764330616
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004463.3(FGD1):c.2619C>T (p.Phe873=)
|
rs375328916
|
0.00005
|
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)
|
rs118192252
|
0.00005
|
NM_004960.4(FUS):c.1248C>T (p.Gly416=)
|
rs368780804
|
0.00005
|
NM_004977.3(KCNC3):c.1257C>T (p.Val419=)
|
rs201002118
|
0.00005
|
NM_004977.3(KCNC3):c.1557C>T (p.Val519=)
|
rs200349179
|
0.00005
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00005
|
NM_005271.5(GLUD1):c.585T>C (p.Asp195=)
|
rs756647962
|
0.00005
|
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=)
|
rs773662857
|
0.00005
|
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val)
|
rs777795072
|
0.00005
|
NM_005529.7(HSPG2):c.6134-4C>T
|
rs768569958
|
0.00005
|
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)
|
rs549442687
|
0.00005
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00005
|
NM_006516.4(SLC2A1):c.276-8G>A
|
rs373084446
|
0.00005
|
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)
|
rs551015841
|
0.00005
|
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)
|
rs767775507
|
0.00005
|
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)
|
rs761263852
|
0.00005
|
NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val)
|
rs532746761
|
0.00005
|
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)
|
rs755595060
|
0.00005
|
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu)
|
rs202247290
|
0.00005
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
NM_006946.4(SPTBN2):c.6280C>T (p.Arg2094Trp)
|
rs368782432
|
0.00005
|
NM_007375.4(TARDBP):c.87C>T (p.Ser29=)
|
rs201693535
|
0.00005
|
NM_012210.4(TRIM32):c.693A>C (p.Ala231=)
|
rs368455215
|
0.00005
|
NM_013444.4(UBQLN2):c.579C>T (p.Ser193=)
|
rs768910794
|
0.00005
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00005
|
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
|
rs765556647
|
0.00005
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
rs61760905
|
0.00005
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
0.00005
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00005
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00005
|
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)
|
rs151256895
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys)
|
rs369275802
|
0.00005
|
NM_018075.5(ANO10):c.45C>T (p.Phe15=)
|
rs1049122968
|
0.00005
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00005
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00005
|
NM_024915.4(GRHL2):c.981G>A (p.Ala327=)
|
rs368774126
|
0.00005
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)
|
rs371179945
|
0.00005
|
NM_130837.3(OPA1):c.2331+10T>C
|
rs371096629
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His)
|
rs370495535
|
0.00005
|
NM_173500.4(TTBK2):c.2299G>A (p.Val767Met)
|
rs752400040
|
0.00005
|
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe)
|
rs781343581
|
0.00005
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
rs368828206
|
0.00005
|
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr)
|
rs376327805
|
0.00005
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)
|
rs542488020
|
0.00005
|
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)
|
rs200176579
|
0.00005
|
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)
|
rs146341538
|
0.00005
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)
|
rs532351874
|
0.00004
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
|
rs749205522
|
0.00004
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)
|
rs121909133
|
0.00004
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu)
|
rs548799639
|
0.00004
|
NM_000162.5(GCK):c.1068G>T (p.Gly356=)
|
rs369103069
|
0.00004
|
NM_000162.5(GCK):c.363+6C>A
|
rs751756042
|
0.00004
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
NM_000238.4(KCNH2):c.3153-4C>T
|
rs181119727
|
0.00004
|
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)
|
rs80266947
|
0.00004
|
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)
|
rs201411232
|
0.00004
|
NM_000335.5(SCN5A):c.954C>T (p.Asn318=)
|
rs372623225
|
0.00004
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000426.4(LAMA2):c.4983C>T (p.Gly1661=)
|
rs772192888
|
0.00004
|
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)
|
rs567385461
|
0.00004
|
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)
|
rs200160665
|
0.00004
|
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
|
rs760768552
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser)
|
rs764617561
|
0.00004
|
NM_000435.3(NOTCH3):c.4793A>T (p.Asp1598Val)
|
rs201167365
|
0.00004
|
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=)
|
rs538466132
|
0.00004
|
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)
|
rs761209241
|
0.00004
|
NM_000435.3(NOTCH3):c.5569C>T (p.Arg1857Trp)
|
rs752169336
|
0.00004
|
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
|
rs779314594
|
0.00004
|
NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=)
|
rs577303432
|
0.00004
|
NM_000435.3(NOTCH3):c.6324G>A (p.Pro2108=)
|
rs776858941
|
0.00004
|
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser)
|
rs372833545
|
0.00004
|
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val)
|
rs770739669
|
0.00004
|
NM_000435.3(NOTCH3):c.825G>A (p.Val275=)
|
rs138837495
|
0.00004
|
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His)
|
rs1351045983
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu)
|
rs149737658
|
0.00004
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
NM_000545.8(HNF1A):c.527-18G>A
|
rs375259151
|
0.00004
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)
|
rs756707031
|
0.00004
|
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys)
|
rs765277688
|
0.00004
|
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe)
|
rs771932172
|
0.00004
|
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)
|
rs746164064
|
0.00004
|
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)
|
rs775697727
|
0.00004
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00004
|
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=)
|
rs768871202
|
0.00004
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln)
|
rs370754278
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001267550.2(TTN):c.13089C>T (p.Pro4363=)
|
rs555324138
|
0.00004
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)
|
rs200954184
|
0.00004
|
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)
|
rs200598509
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)
|
rs755562550
|
0.00004
|
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=)
|
rs371178429
|
0.00004
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)
|
rs369257896
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)
|
rs545556079
|
0.00004
|
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)
|
rs776018262
|
0.00004
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His)
|
rs139197516
|
0.00004
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
NM_001378452.1(ITPR1):c.1554+3C>T
|
rs781141738
|
0.00004
|
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn)
|
rs185464679
|
0.00004
|
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met)
|
rs755486931
|
0.00004
|
NM_001378452.1(ITPR1):c.3564+5G>T
|
rs371420259
|
0.00004
|
NM_001378452.1(ITPR1):c.6993C>T (p.Ile2331=)
|
rs369778265
|
0.00004
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
|
rs139901716
|
0.00004
|
NM_001458.5(FLNC):c.4140C>T (p.Thr1380=)
|
rs183668401
|
0.00004
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
NM_001961.4(EEF2):c.1150+4C>T
|
rs369925168
|
0.00004
|
NM_001961.4(EEF2):c.2136C>T (p.Asp712=)
|
rs775576430
|
0.00004
|
NM_002160.4(TNC):c.1477G>A (p.Gly493Arg)
|
rs542499079
|
0.00004
|
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)
|
rs374937961
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala)
|
rs587778475
|
0.00004
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00004
|
NM_004006.3(DMD):c.832-3C>T
|
rs777492476
|
0.00004
|
NM_004463.3(FGD1):c.62A>T (p.Asn21Ile)
|
rs779475596
|
0.00004
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00004
|
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro)
|
rs780242359
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=)
|
rs782517934
|
0.00004
|
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr)
|
rs756205069
|
0.00004
|
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
|
rs748162809
|
0.00004
|
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)
|
rs551837418
|
0.00004
|
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp)
|
rs773155491
|
0.00004
|
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln)
|
rs763770499
|
0.00004
|
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp)
|
rs761960627
|
0.00004
|
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val)
|
rs749226138
|
0.00004
|
NM_012301.4(MAGI2):c.948C>T (p.Gly316=)
|
rs75675313
|
0.00004
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
|
rs200900703
|
0.00004
|
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)
|
rs1033188876
|
0.00004
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys)
|
rs200594912
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)
|
rs772611372
|
0.00004
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)
|
rs780761368
|
0.00004
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
NM_015046.7(SETX):c.2502A>G (p.Gly834=)
|
rs762818441
|
0.00004
|
NM_015046.7(SETX):c.2862G>A (p.Thr954=)
|
rs149610510
|
0.00004
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.839-6T>C
|
rs760584527
|
0.00004
|
NM_015474.4(SAMHD1):c.208+8C>T
|
rs543987630
|
0.00004
|
NM_015559.3(SETBP1):c.2571C>T (p.Ser857=)
|
rs763175959
|
0.00004
|
NM_015559.3(SETBP1):c.2873A>G (p.Glu958Gly)
|
rs748289164
|
0.00004
|
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)
|
rs377736535
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
0.00004
|
NM_030665.4(RAI1):c.4251A>G (p.Lys1417=)
|
rs556223883
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)
|
rs104886071
|
0.00004
|
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter)
|
rs876657728
|
0.00004
|
NM_152296.5(ATP1A3):c.2419-6G>A
|
rs180749411
|
0.00004
|
NM_152564.5(VPS13B):c.4950-9A>G
|
rs373474658
|
0.00004
|
NM_152743.4(BRAT1):c.1702G>A (p.Ala568Thr)
|
rs141709461
|
0.00004
|
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=)
|
rs146650383
|
0.00004
|
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)
|
rs754834213
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_172107.4(KCNQ2):c.1023+9A>G
|
rs201787699
|
0.00004
|
NM_173500.4(TTBK2):c.1936C>G (p.Gln646Glu)
|
rs200773248
|
0.00004
|
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val)
|
rs556342048
|
0.00004
|
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)
|
rs199996504
|
0.00004
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)
|
rs202245813
|
0.00004
|
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser)
|
rs138323389
|
0.00004
|
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys)
|
rs148538056
|
0.00004
|
NM_201384.3(PLEC):c.2580G>A (p.Pro860=)
|
rs782468518
|
0.00004
|
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)
|
rs782757364
|
0.00004
|
NM_201384.3(PLEC):c.9918C>T (p.Ser3306=)
|
rs112205689
|
0.00004
|
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His)
|
rs757051705
|
0.00004
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00003
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00003
|
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)
|
rs747238231
|
0.00003
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
0.00003
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00003
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00003
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
NM_000166.6(GJB1):c.297A>G (p.Gln99=)
|
rs1213746899
|
0.00003
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
NM_000166.6(GJB1):c.78G>A (p.Ser26=)
|
rs749174507
|
0.00003
|
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)
|
rs748095080
|
0.00003
|
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=)
|
rs564134251
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)
|
rs765347751
|
0.00003
|
NM_000352.6(ABCC8):c.3558-7G>A
|
rs900191703
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)
|
rs202241429
|
0.00003
|
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg)
|
rs200547556
|
0.00003
|
NM_000370.3(TTPA):c.558A>G (p.Ser186=)
|
rs774283073
|
0.00003
|
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala)
|
rs368181126
|
0.00003
|
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
|
rs373985781
|
0.00003
|
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr)
|
rs747633377
|
0.00003
|
NM_000435.3(NOTCH3):c.204G>A (p.Pro68=)
|
rs772468516
|
0.00003
|
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp)
|
rs762164861
|
0.00003
|
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)
|
rs376950447
|
0.00003
|
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)
|
rs60373464
|
0.00003
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=)
|
rs758307531
|
0.00003
|
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met)
|
rs749561286
|
0.00003
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000500.9(CYP21A2):c.293-7C>G
|
rs193922544
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)
|
rs756416683
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=)
|
rs749057825
|
0.00003
|
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)
|
rs375075952
|
0.00003
|
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=)
|
rs121912257
|
0.00003
|
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)
|
rs369631109
|
0.00003
|
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser)
|
rs371190262
|
0.00003
|
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191
|
0.00003
|
NM_001008537.3(NEXMIF):c.2544C>T (p.Thr848=)
|
rs139924662
|
0.00003
|
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr)
|
rs779607937
|
0.00003
|
NM_001029896.2(WDR45):c.524C>T (p.Ala175Val)
|
rs192312429
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)
|
rs770213403
|
0.00003
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
0.00003
|
NM_001101426.4(CRPPA):c.933+3A>G
|
rs377582530
|
0.00003
|
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp)
|
rs782765195
|
0.00003
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00003
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=)
|
rs375649697
|
0.00003
|
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)
|
rs374859388
|
0.00003
|
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=)
|
rs765956215
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
NM_001267550.2(TTN):c.4463C>T (p.Thr1488Met)
|
rs111282958
|
0.00003
|
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg)
|
rs750435043
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
0.00003
|
NM_001267550.2(TTN):c.53881+4C>T
|
rs187632918
|
0.00003
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln)
|
rs745488276
|
0.00003
|
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His)
|
rs374474227
|
0.00003
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00003
|
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met)
|
rs752403373
|
0.00003
|
NM_001371279.1(REEP1):c.408T>A (p.Ala136=)
|
rs368965566
|
0.00003
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
rs145366078
|
0.00003
|
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=)
|
rs751526144
|
0.00003
|
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=)
|
rs778521012
|
0.00003
|
NM_001378452.1(ITPR1):c.2733G>A (p.Ala911=)
|
rs562572079
|
0.00003
|
NM_001378452.1(ITPR1):c.5354-10A>G
|
rs535524341
|
0.00003
|
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser)
|
rs760608076
|
0.00003
|
NM_001378452.1(ITPR1):c.7562-10G>A
|
rs371836569
|
0.00003
|
NM_001378452.1(ITPR1):c.7854G>A (p.Thr2618=)
|
rs777975463
|
0.00003
|
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)
|
rs1247179970
|
0.00003
|
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp)
|
rs756543718
|
0.00003
|
NM_001379500.1(COL18A1):c.2684-9C>T
|
rs1002126692
|
0.00003
|
NM_001458.5(FLNC):c.4425G>A (p.Ala1475=)
|
rs371971762
|
0.00003
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
NM_001961.4(EEF2):c.1176C>T (p.Gly392=)
|
rs147518416
|
0.00003
|
NM_001961.4(EEF2):c.1647C>T (p.Ala549=)
|
rs758294276
|
0.00003
|
NM_002047.4(GARS1):c.144C>T (p.Ala48=)
|
rs754360926
|
0.00003
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_002087.4(GRN):c.421G>A (p.Val141Ile)
|
rs63749853
|
0.00003
|
NM_002693.3(POLG):c.1780C>T (p.Leu594=)
|
rs778172428
|
0.00003
|
NM_002693.3(POLG):c.3519G>A (p.Leu1173=)
|
rs953889846
|
0.00003
|
NM_002739.5(PRKCG):c.1871G>A (p.Arg624Gln)
|
rs146367309
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
rs753956374
|
0.00003
|
NM_003482.4(KMT2D):c.10206G>C (p.Leu3402=)
|
rs776321392
|
0.00003
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
|
rs587783644
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004006.3(DMD):c.2293-8T>C
|
rs377050013
|
0.00003
|
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)
|
rs148810193
|
0.00003
|
NM_004621.6(TRPC6):c.1294-4G>A
|
rs190191809
|
0.00003
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
NM_004977.3(KCNC3):c.1017C>T (p.Asn339=)
|
rs371799397
|
0.00003
|
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile)
|
rs747138265
|
0.00003
|
NM_005445.4(SMC3):c.2982C>T (p.Ser994=)
|
rs201308737
|
0.00003
|
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=)
|
rs375637572
|
0.00003
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
NM_006790.3(MYOT):c.1398T>G (p.Leu466=)
|
rs150033934
|
0.00003
|
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala)
|
rs200759046
|
0.00003
|
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)
|
rs772590586
|
0.00003
|
NM_006946.4(SPTBN2):c.2817-8G>T
|
rs142540439
|
0.00003
|
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His)
|
rs367949397
|
0.00003
|
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=)
|
rs373276784
|
0.00003
|
NM_006946.4(SPTBN2):c.6131C>T (p.Thr2044Met)
|
rs199759434
|
0.00003
|
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)
|
rs778388054
|
0.00003
|
NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln)
|
rs763398880
|
0.00003
|
NM_014053.4(FLVCR1):c.1365C>T (p.Tyr455=)
|
rs779980010
|
0.00003
|
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=)
|
rs150645228
|
0.00003
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00003
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00003
|
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
|
rs777946704
|
0.00003
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
rs752833893
|
0.00003
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
|
rs553107347
|
0.00003
|
NM_014363.6(SACS):c.416G>A (p.Gly139Glu)
|
rs759987183
|
0.00003
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00003
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
rs761695127
|
0.00003
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
0.00003
|
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=)
|
rs1451311121
|
0.00003
|
NM_018075.5(ANO10):c.1710C>T (p.Asn570=)
|
rs142862162
|
0.00003
|
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)
|
rs373386030
|
0.00003
|
NM_020247.5(COQ8A):c.771G>A (p.Glu257=)
|
rs371867831
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00003
|
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln)
|
rs141315771
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)
|
rs768044718
|
0.00003
|
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)
|
rs375258567
|
0.00003
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
NM_130837.3(OPA1):c.1036-8G>T
|
rs367618769
|
0.00003
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly)
|
rs1053144630
|
0.00003
|
NM_173500.4(TTBK2):c.1973C>T (p.Ala658Val)
|
rs776776204
|
0.00003
|
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)
|
rs576737530
|
0.00003
|
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=)
|
rs142268325
|
0.00003
|
NM_175914.5(HNF4A):c.86C>A (p.Pro29His)
|
rs763529905
|
0.00003
|
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
|
rs200137127
|
0.00003
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00003
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00003
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)
|
rs771168722
|
0.00003
|
NM_198994.3(TGM6):c.1089T>C (p.Ser363=)
|
rs762242728
|
0.00003
|
NM_198994.3(TGM6):c.1302C>T (p.Arg434=)
|
rs749578418
|
0.00003
|
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=)
|
rs549882307
|
0.00003
|
NM_201384.3(PLEC):c.2550C>G (p.Ala850=)
|
rs376777606
|
0.00003
|
NM_201384.3(PLEC):c.3501C>T (p.His1167=)
|
rs782038506
|
0.00003
|
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln)
|
rs576252504
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)
|
rs150020550
|
0.00002
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00002
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00002
|
NM_000162.5(GCK):c.435C>G (p.Pro145=)
|
rs773281783
|
0.00002
|
NM_000166.6(GJB1):c.-27C>T
|
rs879254157
|
0.00002
|
NM_000166.6(GJB1):c.699G>A (p.Ser233=)
|
rs769112084
|
0.00002
|
NM_000260.4(MYO7A):c.3503+10G>A
|
rs782049232
|
0.00002
|
NM_000260.4(MYO7A):c.5327-10C>T
|
rs781062618
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=)
|
rs753725579
|
0.00002
|
NM_000334.4(SCN4A):c.969G>A (p.Thr323=)
|
rs1429424012
|
0.00002
|
NM_000368.5(TSC1):c.126A>C (p.Val42=)
|
rs118203335
|
0.00002
|
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser)
|
rs779395169
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00002
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00002
|
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)
|
rs121912459
|
0.00002
|
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val)
|
rs994764994
|
0.00002
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
rs373371572
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
NM_000548.5(TSC2):c.975+7C>T
|
rs372463702
|
0.00002
|
NM_000702.4(ATP1A2):c.1500C>T (p.His500=)
|
rs140480795
|
0.00002
|
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=)
|
rs748890267
|
0.00002
|
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)
|
rs794727118
|
0.00002
|
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)
|
rs764888239
|
0.00002
|
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=)
|
rs767061986
|
0.00002
|
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=)
|
rs368043574
|
0.00002
|
NM_001099922.3(ALG13):c.360T>C (p.Gly120=)
|
rs747837898
|
0.00002
|
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=)
|
rs782253233
|
0.00002
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=)
|
rs750338421
|
0.00002
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00002
|
NM_001127222.2(CACNA1A):c.6340-7C>A
|
rs765609971
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00002
|
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu)
|
rs1442777428
|
0.00002
|
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)
|
rs201912053
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)
|
rs369619711
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys)
|
rs752764827
|
0.00002
|
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys)
|
rs786205389
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)
|
rs578085621
|
0.00002
|
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met)
|
rs764263517
|
0.00002
|
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)
|
rs782420127
|
0.00002
|
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)
|
rs774075762
|
0.00002
|
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=)
|
rs372511563
|
0.00002
|
NM_001378452.1(ITPR1):c.7614G>A (p.Thr2538=)
|
rs146028585
|
0.00002
|
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
|
rs1167459243
|
0.00002
|
NM_001458.5(FLNC):c.851-5C>T
|
rs758216356
|
0.00002
|
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)
|
rs531373470
|
0.00002
|
NM_002693.3(POLG):c.1250+5G>T
|
rs751221993
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)
|
rs142347031
|
0.00002
|
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)
|
rs146584956
|
0.00002
|
NM_002764.4(PRPS1):c.705-6C>T
|
rs199740956
|
0.00002
|
NM_003119.4(SPG7):c.1599G>A (p.Ala533=)
|
rs561746823
|
0.00002
|
NM_004172.5(SLC1A3):c.1434C>G (p.Leu478=)
|
rs778865549
|
0.00002
|
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala)
|
rs782426227
|
0.00002
|
NM_004562.3(PRKN):c.816C>T (p.Leu272=)
|
rs143902760
|
0.00002
|
NM_004977.3(KCNC3):c.1224C>T (p.Asp408=)
|
rs370533679
|
0.00002
|
NM_004984.4(KIF5A):c.2538+8T>G
|
rs377005699
|
0.00002
|
NM_005529.7(HSPG2):c.10151-4G>A
|
rs763324083
|
0.00002
|
NM_006772.3(SYNGAP1):c.1677-8C>T
|
rs755438249
|
0.00002
|
NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=)
|
rs747355437
|
0.00002
|
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=)
|
rs369017203
|
0.00002
|
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys)
|
rs754809056
|
0.00002
|
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys)
|
rs149317715
|
0.00002
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)
|
rs746195427
|
0.00002
|
NM_013382.7(POMT2):c.1654-8T>G
|
rs780532724
|
0.00002
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
|
rs774463808
|
0.00002
|
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
|
rs753844954
|
0.00002
|
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
|
rs753511073
|
0.00002
|
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
rs772374399
|
0.00002
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
rs762493571
|
0.00002
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00002
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
rs1326604025
|
0.00002
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val)
|
rs730881178
|
0.00002
|
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=)
|
rs750122277
|
0.00002
|
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)
|
rs370551247
|
0.00002
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile)
|
rs777436865
|
0.00002
|
NM_018075.5(ANO10):c.1218+1G>C
|
rs375479262
|
0.00002
|
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)
|
rs762918406
|
0.00002
|
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys)
|
rs138727329
|
0.00002
|
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val)
|
rs372416792
|
0.00002
|
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=)
|
rs369502091
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)
|
rs772080195
|
0.00002
|
NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln)
|
rs139300843
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)
|
rs371188899
|
0.00002
|
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val)
|
rs727504914
|
0.00002
|
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)
|
rs747068278
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)
|
rs367584549
|
0.00002
|
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)
|
rs762165359
|
0.00002
|
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
|
rs201953675
|
0.00002
|
NM_032409.3(PINK1):c.434C>T (p.Thr145Met)
|
rs45604240
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys)
|
rs779375399
|
0.00002
|
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)
|
rs376239580
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00002
|
NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=)
|
rs371070916
|
0.00002
|
NM_173500.4(TTBK2):c.452G>A (p.Arg151His)
|
rs375070421
|
0.00002
|
NM_178012.5(TUBB2B):c.57+4G>A
|
rs767477213
|
0.00002
|
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=)
|
rs750318922
|
0.00002
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=)
|
rs558367406
|
0.00002
|
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)
|
rs375476506
|
0.00002
|
NM_182961.4(SYNE1):c.3837+8T>C
|
rs377391406
|
0.00002
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00002
|
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)
|
rs377125427
|
0.00002
|
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=)
|
rs768769972
|
0.00002
|
NM_000051.4(ATM):c.1335A>G (p.Gln445=)
|
rs1385656085
|
0.00001
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)
|
rs756981034
|
0.00001
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
|
rs770605959
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=)
|
rs745564892
|
0.00001
|
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)
|
rs918420911
|
0.00001
|
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro)
|
rs972825197
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)
|
rs1192750535
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000091.5(COL4A3):c.87+8G>C
|
rs1223507970
|
0.00001
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)
|
rs778832152
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp)
|
rs1559482299
|
0.00001
|
NM_000092.5(COL4A4):c.3506-8T>G
|
rs761588725
|
0.00001
|
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)
|
rs1384523881
|
0.00001
|
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg)
|
rs775926807
|
0.00001
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
NM_000144.5(FXN):c.123C>T (p.Gly41=)
|
rs1057519131
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
|
rs193922311
|
0.00001
|
NM_000162.5(GCK):c.680-19C>T
|
rs373410298
|
0.00001
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
NM_000162.5(GCK):c.823C>T (p.Arg275Cys)
|
rs556436603
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000170.3(GLDC):c.861+10C>T
|
rs565335444
|
0.00001
|
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)
|
rs1555518481
|
0.00001
|
NM_000238.4(KCNH2):c.1263G>A (p.Thr421=)
|
rs368109121
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg)
|
rs1029122324
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)
|
rs121908552
|
0.00001
|
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)
|
rs121908556
|
0.00001
|
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
|
rs1318966106
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000368.5(TSC1):c.1141+10T>C
|
rs367601694
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00001
|
NM_000370.3(TTPA):c.6A>T (p.Ala2=)
|
rs1805748956
|
0.00001
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=)
|
rs150046431
|
0.00001
|
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe)
|
rs201175472
|
0.00001
|
NM_000435.3(NOTCH3):c.1059C>T (p.Asp353=)
|
rs529200949
|
0.00001
|
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys)
|
rs2046899820
|
0.00001
|
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=)
|
rs142762020
|
0.00001
|
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)
|
rs1202763005
|
0.00001
|
NM_000435.3(NOTCH3):c.1635C>T (p.Asn545=)
|
rs763667541
|
0.00001
|
NM_000435.3(NOTCH3):c.197+8C>T
|
rs1216276758
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)
|
rs754815179
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys)
|
rs1438064001
|
0.00001
|
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)
|
rs1438626607
|
0.00001
|
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
|
rs963416165
|
0.00001
|
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His)
|
rs769955930
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=)
|
rs967649457
|
0.00001
|
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)
|
rs367855127
|
0.00001
|
NM_000451.4(SHOX):c.702G>A (p.Ala234=)
|
rs576542942
|
0.00001
|
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)
|
rs1030039318
|
0.00001
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
|
rs769903299
|
0.00001
|
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)
|
rs104894326
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val)
|
rs746303150
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)
|
rs375848765
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)
|
rs1174593640
|
0.00001
|
NM_000527.4(LDLR):c.313+1G>A
|
rs112029328
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)
|
rs201156403
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000545.8(HNF1A):c.527-19C>T
|
rs563495098
|
0.00001
|
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)
|
rs893256143
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)
|
rs1219556604
|
0.00001
|
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=)
|
rs533663836
|
0.00001
|
NM_000726.5(CACNB4):c.288C>T (p.Ala96=)
|
rs558998873
|
0.00001
|
NM_000726.5(CACNB4):c.331G>A (p.Val111Met)
|
rs764764389
|
0.00001
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn)
|
rs778565182
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His)
|
rs770080914
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
NM_001039876.3(SYNE4):c.972+5G>A
|
rs369269989
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001079802.2(FKTN):c.588C>T (p.Asp196=)
|
rs1222153269
|
0.00001
|
NM_001083961.2(WDR62):c.2040T>C (p.His680=)
|
rs765451882
|
0.00001
|
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)
|
rs1557134910
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)
|
rs778585043
|
0.00001
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)
|
rs1041531529
|
0.00001
|
NM_001127222.2(CACNA1A):c.1199-9C>T
|
rs529977616
|
0.00001
|
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His)
|
rs755107633
|
0.00001
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=)
|
rs542849275
|
0.00001
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)
|
rs1339046005
|
0.00001
|
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=)
|
rs587784442
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001134407.3(GRIN2A):c.990G>A (p.Pro330=)
|
rs149902963
|
0.00001
|
NM_001146262.4(SYT14):c.-3A>G
|
rs985232390
|
0.00001
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
0.00001
|
NM_001165963.4(SCN1A):c.846C>A (p.Pro282=)
|
rs1352832546
|
0.00001
|
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys)
|
rs2024064953
|
0.00001
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile)
|
rs876658043
|
0.00001
|
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=)
|
rs1198504900
|
0.00001
|
NM_001267550.2(TTN):c.23521A>T (p.Asn7841Tyr)
|
rs753072306
|
0.00001
|
NM_001267550.2(TTN):c.28462+3A>G
|
rs1402065855
|
0.00001
|
NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu)
|
rs376548316
|
0.00001
|
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)
|
rs760643071
|
0.00001
|
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=)
|
rs752514306
|
0.00001
|
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln)
|
rs775513269
|
0.00001
|
NM_001267550.2(TTN):c.47874T>C (p.Phe15958=)
|
rs747343598
|
0.00001
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)
|
rs562680371
|
0.00001
|
NM_001267550.2(TTN):c.63743T>C (p.Leu21248Pro)
|
rs745323281
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr)
|
rs372963832
|
0.00001
|
NM_001267550.2(TTN):c.77515A>C (p.Lys25839Gln)
|
rs1371831965
|
0.00001
|
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)
|
rs754207859
|
0.00001
|
NM_001267550.2(TTN):c.89639T>G (p.Leu29880Arg)
|
rs781165041
|
0.00001
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
NM_001267550.2(TTN):c.92226G>A (p.Arg30742=)
|
rs759484932
|
0.00001
|
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)
|
rs1280272876
|
0.00001
|
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)
|
rs746787955
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=)
|
rs781108294
|
0.00001
|
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469
|
0.00001
|
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met)
|
rs371999853
|
0.00001
|
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)
|
rs782097679
|
0.00001
|
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=)
|
rs201485014
|
0.00001
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)
|
rs758404089
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
NM_001377265.1(MAPT):c.2091+19C>G
|
rs63750162
|
0.00001
|
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser)
|
rs1472737578
|
0.00001
|
NM_001378452.1(ITPR1):c.1152-6T>C
|
rs752886993
|
0.00001
|
NM_001378452.1(ITPR1):c.4251C>T (p.Arg1417=)
|
rs375223250
|
0.00001
|
NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=)
|
rs192863290
|
0.00001
|
NM_001378452.1(ITPR1):c.5760C>T (p.Val1920=)
|
rs773926755
|
0.00001
|
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)
|
rs749990612
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00001
|
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=)
|
rs1350503435
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_001845.6(COL4A1):c.4151-10T>C
|
rs756588136
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_001845.6(COL4A1):c.553-10T>C
|
rs370673476
|
0.00001
|
NM_001961.4(EEF2):c.1347-8T>G
|
rs376174565
|
0.00001
|
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln)
|
rs769755490
|
0.00001
|
NM_002047.4(GARS1):c.843G>A (p.Met281Ile)
|
rs545669679
|
0.00001
|
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln)
|
rs267607510
|
0.00001
|
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)
|
rs527639885
|
0.00001
|
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly)
|
rs760163301
|
0.00001
|
NM_002547.3(OPHN1):c.2316A>G (p.Thr772=)
|
rs1403350105
|
0.00001
|
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)
|
rs556925652
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_002739.5(PRKCG):c.1764+1G>T
|
rs1406338491
|
0.00001
|
NM_002968.3(SALL1):c.2825C>A (p.Pro942His)
|
rs751069468
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
0.00001
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003119.4(SPG7):c.69G>A (p.Trp23Ter)
|
rs1457238867
|
0.00001
|
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)
|
rs727504292
|
0.00001
|
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln)
|
rs761108868
|
0.00001
|
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)
|
rs374077422
|
0.00001
|
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)
|
rs758685548
|
0.00001
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)
|
rs774355338
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.628T>C (p.Leu210=)
|
rs1036073348
|
0.00001
|
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)
|
rs768210838
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)
|
rs775437084
|
0.00001
|
NM_004977.3(KCNC3):c.1260C>T (p.Arg420=)
|
rs115066106
|
0.00001
|
NM_004977.3(KCNC3):c.1443C>T (p.Gly481=)
|
rs767049102
|
0.00001
|
NM_004984.4(KIF5A):c.531G>A (p.Pro177=)
|
rs771476833
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter)
|
rs759220039
|
0.00001
|
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=)
|
rs540961117
|
0.00001
|
NM_005619.5(RTN2):c.389C>T (p.Ala130Val)
|
rs745409162
|
0.00001
|
NM_005619.5(RTN2):c.79+6T>A
|
rs749104931
|
0.00001
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)
|
rs369841551
|
0.00001
|
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)
|
rs587777882
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_006796.3(AFG3L2):c.1233G>A (p.Ala411=)
|
rs774375813
|
0.00001
|
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter)
|
rs543422544
|
0.00001
|
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met)
|
rs775522542
|
0.00001
|
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys)
|
rs771402351
|
0.00001
|
NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=)
|
rs779091056
|
0.00001
|
NM_006946.4(SPTBN2):c.4279-8G>A
|
rs369614446
|
0.00001
|
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile)
|
rs1328577241
|
0.00001
|
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp)
|
rs890981545
|
0.00001
|
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
|
rs774653711
|
0.00001
|
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)
|
rs750623875
|
0.00001
|
NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=)
|
rs372297351
|
0.00001
|
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=)
|
rs1456985458
|
0.00001
|
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=)
|
rs148086431
|
0.00001
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=)
|
rs74607124
|
0.00001
|
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter)
|
rs1237437677
|
0.00001
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
0.00001
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
rs551720360
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val)
|
rs756979757
|
0.00001
|
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser)
|
rs748415049
|
0.00001
|
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)
|
rs1180908312
|
0.00001
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
rs763212039
|
0.00001
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
0.00001
|
NM_014363.6(SACS):c.1654C>G (p.Leu552Val)
|
rs767218921
|
0.00001
|
NM_014363.6(SACS):c.2289A>G (p.Gln763=)
|
rs765734527
|
0.00001
|
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
|
rs762821420
|
0.00001
|
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)
|
rs370103461
|
0.00001
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
rs768073167
|
0.00001
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
0.00001
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.511G>A (p.Gly171Ser)
|
rs1376756373
|
0.00001
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
rs779589728
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
0.00001
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
rs749931330
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
rs770769237
|
0.00001
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg)
|
rs1345260812
|
0.00001
|
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val)
|
rs372539355
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly)
|
rs1553321245
|
0.00001
|
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser)
|
rs762175796
|
0.00001
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015046.7(SETX):c.7200-3T>C
|
rs750883399
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_018075.5(ANO10):c.2T>C (p.Met1Thr)
|
rs531656357
|
0.00001
|
NM_018075.5(ANO10):c.338-2A>G
|
rs761765455
|
0.00001
|
NM_018100.4(EFHC1):c.15C>T (p.Pro5=)
|
rs1339961633
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
0.00001
|
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg)
|
rs548317868
|
0.00001
|
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
|
rs894977586
|
0.00001
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
NM_020247.5(COQ8A):c.909C>T (p.Ser303=)
|
rs202036077
|
0.00001
|
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)
|
rs863224183
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr)
|
rs766694151
|
0.00001
|
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=)
|
rs766357140
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg)
|
rs764970185
|
0.00001
|
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln)
|
rs137852956
|
0.00001
|
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser)
|
rs17175750
|
0.00001
|
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)
|
rs757043077
|
0.00001
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser)
|
rs1030615093
|
0.00001
|
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)
|
rs1131691924
|
0.00001
|
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)
|
rs149600158
|
0.00001
|
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr)
|
rs1050561499
|
0.00001
|
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln)
|
rs755180090
|
0.00001
|
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser)
|
rs930190521
|
0.00001
|
NM_080916.3(DGUOK):c.757_759del (p.Asn253del)
|
rs775276142
|
0.00001
|
NM_152296.5(ATP1A3):c.741G>C (p.Val247=)
|
rs767234141
|
0.00001
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter)
|
rs746509804
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=)
|
rs536366837
|
0.00001
|
NM_175914.5(HNF4A):c.123C>T (p.Cys41=)
|
rs147552575
|
0.00001
|
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)
|
rs1290868034
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_177550.5(SLC13A5):c.402C>T (p.Leu134=)
|
rs1336828226
|
0.00001
|
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=)
|
rs772377391
|
0.00001
|
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)
|
rs764725032
|
0.00001
|
NM_182961.4(SYNE1):c.23145+6T>G
|
rs794727081
|
0.00001
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00001
|
NM_182961.4(SYNE1):c.9507+6T>C
|
rs372138410
|
0.00001
|
NM_198994.3(TGM6):c.573C>G (p.Leu191=)
|
rs1347908694
|
0.00001
|
NM_198994.3(TGM6):c.618C>T (p.Thr206=)
|
rs111415879
|
0.00001
|
NM_201384.3(PLEC):c.10830C>T (p.Ala3610=)
|
rs80304210
|
0.00001
|
NM_201384.3(PLEC):c.3081+9C>T
|
rs371983298
|
0.00001
|
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln)
|
rs782316711
|
0.00001
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
NC_000002.12:g.227030555delinsGAG
|
rs1575895541
|
|
NC_012920.1(MT-CO1):m.5951A>G
|
rs7340122
|
|
NC_012920.1(MT-CO1):m.6071T>C
|
rs7340086
|
|
NC_012920.1(MT-CO1):m.6260G>A
|
rs201395766
|
|
NC_012920.1(MT-CO1):m.6261G>A
|
rs201262114
|
|
NC_012920.1(MT-CYB):m.1193T>C
|
rs111033321
|
|
NC_012920.1(MT-ND1):m.1442G>A
|
rs28358573
|
|
NC_012920.1(MT-ND1):m.3308T>C
|
rs28358582
|
|
NC_012920.1(MT-ND1):m.3796A>G
|
rs28357970
|
|
NC_012920.1(MT-ND1):m.3849G>A
|
rs878853081
|
|
NC_012920.1(MT-TQ):m.4336T>C
|
rs41456348
|
|
NC_012920.1(MT-TS1):m.7468C>T
|
rs111033173
|
|
NC_012920.1(MT-TS2):m.12236G>A
|
rs28359170
|
|
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val)
|
rs63751130
|
|
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)
|
rs63750248
|
|
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala)
|
rs63751229
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.2250+7G>A
|
rs752009031
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.482A>C (p.Gln161Pro)
|
rs587780625
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7927+5del
|
rs786204437
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)
|
rs2521161799
|
|
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=)
|
rs141619541
|
|
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)
|
rs554596425
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs)
|
rs2054085839
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)
|
rs570378547
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)
|
rs779816027
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)
|
rs755176513
|
|
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)
|
rs1586484463
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000083.3(CLCN1):c.799C>T (p.Leu267=)
|
rs1563075864
|
|
NM_000083.3(CLCN1):c.982A>G (p.Thr328Ala)
|
|
|
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)
|
rs1180658535
|
|
NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His)
|
rs1553128179
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg)
|
rs1555571769
|
|
NM_000088.4(COL1A1):c.441del (p.Gly148fs)
|
rs1473458290
|
|
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT
|
rs1555574417
|
|
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)
|
rs72645355
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)
|
rs1559897190
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg)
|
rs1553752192
|
|
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)
|
rs761819520
|
|
NM_000092.5(COL4A4):c.2110G>A (p.Gly704Arg)
|
rs1379525680
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val)
|
rs1576189036
|
|
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys)
|
rs1158350974
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)
|
rs1408907127
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp)
|
rs1559631986
|
|
NM_000092.5(COL4A4):c.914_930+29del
|
rs1553683757
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)
|
rs114096998
|
|
NM_000142.5(FGFR3):c.912C>G (p.Pro304=)
|
rs201012537
|
|
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)
|
rs104894435
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
NM_000162.5(GCK):c.1099G>A (p.Val367Met)
|
rs1057521092
|
|
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp)
|
rs556581174
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
NM_000162.5(GCK):c.1136C>T (p.Ala379Val)
|
rs193922265
|
|
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)
|
rs1554334613
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)
|
rs1583591747
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
NM_000162.5(GCK):c.115_117del (p.Lys39del)
|
rs2096283216
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.122T>C (p.Met41Thr)
|
rs1057524906
|
|
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
NM_000162.5(GCK):c.1247A>C (p.His416Pro)
|
rs1583591303
|
|
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)
|
rs1554334478
|
|
NM_000162.5(GCK):c.127C>A (p.Arg43Ser)
|
rs1486280029
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)
|
rs1562711915
|
|
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)
|
rs193922281
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
|
rs2484492011
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
|
rs2096283096
|
|
NM_000162.5(GCK):c.185T>C (p.Val62Ala)
|
rs1444739794
|
|
NM_000162.5(GCK):c.208G>A (p.Glu70Lys)
|
rs2128823091
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
NM_000162.5(GCK):c.364C>A (p.Leu122Ile)
|
rs1554335616
|
|
NM_000162.5(GCK):c.364C>G (p.Leu122Val)
|
rs1554335616
|
|
NM_000162.5(GCK):c.370G>C (p.Asp124His)
|
rs759072800
|
|
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
|
rs1036483919
|
|
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
|
rs193922300
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.477C>G (p.Ile159Met)
|
rs1554335567
|
|
NM_000162.5(GCK):c.478G>A (p.Asp160Asn)
|
rs1554335566
|
|
NM_000162.5(GCK):c.531A>C (p.Glu177Asp)
|
rs2484524170
|
|
NM_000162.5(GCK):c.540T>G (p.Asn180Lys)
|
rs1554335444
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
NM_000162.5(GCK):c.579+12C>G
|
rs202001955
|
|
NM_000162.5(GCK):c.595G>A (p.Val199Met)
|
rs1554335417
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000162.5(GCK):c.610A>G (p.Asn204Asp)
|
rs2128821512
|
|
NM_000162.5(GCK):c.623C>T (p.Ala208Val)
|
rs746913146
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
NM_000162.5(GCK):c.666del (p.Gly223fs)
|
rs2096278285
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
NM_000162.5(GCK):c.730G>A (p.Val244Met)
|
rs1240035630
|
|
NM_000162.5(GCK):c.736G>A (p.Gly246Arg)
|
rs2096275721
|
|
NM_000162.5(GCK):c.737G>A (p.Gly246Glu)
|
rs1583596522
|
|
NM_000162.5(GCK):c.737G>C (p.Gly246Ala)
|
rs1583596522
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.758T>C (p.Val253Ala)
|
rs193921400
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
NM_000162.5(GCK):c.883G>A (p.Gly295Ser)
|
rs1554334905
|
|
NM_000162.5(GCK):c.904G>C (p.Val302Leu)
|
rs1583594501
|
|
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)
|
rs193922340
|
|
NM_000162.5(GCK):c.971T>C (p.Leu324Pro)
|
rs193922341
|
|
NM_000162.5(GCK):c.98T>C (p.Val33Ala)
|
rs1554335954
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.147T>C (p.Ser49=)
|
rs2092542885
|
|
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)
|
rs913934445
|
|
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)
|
rs876661269
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)
|
rs1555937077
|
|
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097
|
|
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)
|
rs1602349280
|
|
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)
|
rs1555937197
|
|
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
|
rs771022595
|
|
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471
|
|
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)
|
rs1555937244
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
NM_000166.6(GJB1):c.807_808del (p.Ala271fs)
|
rs1602350012
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000193.4(SHH):c.*2871T>G
|
|
|
NM_000207.3(INS):c.130_144del (p.Gly44_Phe48del)
|
rs1554920854
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.217dup (p.Leu73fs)
|
rs1445970498
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000232.5(SGCB):c.430-5dup
|
rs762831481
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala)
|
rs121912518
|
|
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln)
|
rs71245621
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)
|
rs36210421
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
NM_000238.4(KCNH2):c.77-5C>G
|
rs72549419
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
NM_000260.4(MYO7A):c.93C>T (p.Cys31=)
|
rs35689081
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)
|
rs61752141
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000297.4(PKD2):c.843G>A (p.Lys281=)
|
rs1727333486
|
|
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276
|
|
NM_000304.4(PMP22):c.396C>A (p.Tyr132Ter)
|
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423
|
|
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer)
|
rs1564568350
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)
|
rs121908546
|
|
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys)
|
rs886043595
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)
|
rs748517635
|
|
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=)
|
rs182438287
|
|
NM_000334.4(SCN4A):c.483-5C>A
|
rs191547933
|
|
NM_000334.4(SCN4A):c.483-9C>A
|
rs201552497
|
|
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del)
|
rs1464481652
|
|
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)
|
rs1064794243
|
|
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)
|
rs1555604867
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.3388-10_3388-9del
|
rs2061494723
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
NM_000336.3(SCNN1B):c.1789del (p.Arg597fs)
|
rs758629218
|
|
NM_000336.3(SCNN1B):c.1789dup (p.Arg597fs)
|
rs758629218
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs)
|
rs764247288
|
|
NM_000344.4(SMN1):c.419A>T (p.Asp140Val)
|
rs1554081968
|
|
NM_000344.4(SMN1):c.584del (p.Pro195fs)
|
rs1561499748
|
|
NM_000344.4(SMN1):c.818A>T (p.His273Leu)
|
rs1554082114
|
|
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)
|
rs1554066666
|
|
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)
|
rs1554081950
|
|
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
|
rs1591834223
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.915G>C (p.Gly305=)
|
rs397515293
|
|
NM_000371.4(TTR):c.193G>A (p.Ala65Thr)
|
rs121918078
|
|
NM_000371.4(TTR):c.194C>T (p.Ala65Val)
|
rs730881169
|
|
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)
|
rs1555631393
|
|
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)
|
rs1598845097
|
|
NM_000371.4(TTR):c.326A>T (p.Glu109Val)
|
rs2073511444
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)
|
rs1576859379
|
|
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)
|
rs104893716
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
|
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu)
|
rs1553768989
|
|
NM_000388.4(CASR):c.2065G>A (p.Val689Met)
|
rs2107649885
|
|
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
NM_000388.4(CASR):c.488C>G (p.Pro163Arg)
|
rs2107627915
|
|
NM_000388.4(CASR):c.518T>C (p.Leu173Pro)
|
rs2107631736
|
|
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)
|
rs1064794290
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)
|
rs1085307984
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)
|
rs753747037
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
NM_000426.4(LAMA2):c.5072-6del
|
rs398123376
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000435.3(NOTCH3):c.1019G>A (p.Cys340Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly)
|
rs1555729105
|
|
NM_000435.3(NOTCH3):c.1144G>T (p.Gly382Cys)
|
rs2145437046
|
|
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys)
|
rs1555729064
|
|
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
|
rs1599391536
|
|
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
|
rs2145436195
|
|
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp)
|
rs2046907170
|
|
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)
|
rs762734007
|
|
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg)
|
rs28933698
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp)
|
rs2046897516
|
|
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
|
rs2046897246
|
|
NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)
|
|
|
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
|
rs2046896882
|
|
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
|
rs1193624610
|
|
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=)
|
rs75617410
|
|
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr)
|
rs1555730188
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=)
|
rs79926127
|
|
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg)
|
rs2512657590
|
|
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)
|
rs754554486
|
|
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)
|
rs764148985
|
|
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr)
|
rs2046888772
|
|
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)
|
rs1568359346
|
|
NM_000435.3(NOTCH3):c.1849T>C (p.Cys617Arg)
|
rs2145432499
|
|
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)
|
rs758997426
|
|
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys)
|
rs376046941
|
|
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe)
|
rs1555729615
|
|
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys)
|
rs2145443744
|
|
NM_000435.3(NOTCH3):c.244T>G (p.Cys82Gly)
|
rs2046937845
|
|
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)
|
rs1023306013
|
|
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys)
|
rs995523352
|
|
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys)
|
rs1188569102
|
|
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
|
rs1599382214
|
|
NM_000435.3(NOTCH3):c.3044G>T (p.Cys1015Phe)
|
rs1555727938
|
|
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser)
|
rs2046833026
|
|
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)
|
rs1285584068
|
|
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)
|
rs1064794216
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly)
|
rs1555729554
|
|
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
|
rs767150916
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg)
|
rs1344432803
|
|
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)
|
rs1555729510
|
|
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys)
|
rs2145442191
|
|
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met)
|
rs111838442
|
|
NM_000435.3(NOTCH3):c.4899G>A (p.Pro1633=)
|
rs200797732
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe)
|
rs1568361851
|
|
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe)
|
rs1555729477
|
|
NM_000435.3(NOTCH3):c.5668-9C>G
|
rs375464998
|
|
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.6464G>A (p.Gly2155Glu)
|
|
|
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)
|
rs1555729452
|
|
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser)
|
rs1177268940
|
|
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
|
rs1599394351
|
|
NM_000435.3(NOTCH3):c.733T>A (p.Cys245Ser)
|
|
|
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)
|
rs947976672
|
|
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr)
|
rs1568361404
|
|
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr)
|
rs2046925963
|
|
NM_000444.6(PHEX):c.1482+1G>A
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1768+5G>A
|
rs1057524608
|
|
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile)
|
rs1935508894
|
|
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)
|
rs63749851
|
|
NM_000451.4(SHOX):c.144G>A (p.Glu48=)
|
rs750638027
|
|
NM_000451.4(SHOX):c.279G>T (p.Gly93=)
|
rs193922465
|
|
NM_000451.4(SHOX):c.486+8C>G
|
rs374705909
|
|
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del)
|
rs776789883
|
|
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)
|
rs121912432
|
|
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
|
rs1568811489
|
|
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)
|
rs1200906022
|
|
NM_000458.4(HNF1B):c.1207-7C>T
|
rs1215174368
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
rs121918675
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
|
rs2033752564
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
rs886043813
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup)
|
rs931041761
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000484.4(APP):c.819CAC[6] (p.Thr280del)
|
rs527890624
|
|
NM_000486.6(AQP2):c.97_119del (p.Asn33fs)
|
rs772201159
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)
|
rs782630348
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)
|
rs4998902
|
|
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA
|
rs1586561494
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000500.9(CYP21A2):c.318G>A (p.Pro106=)
|
rs6455
|
|
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)
|
rs397515531
|
|
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)
|
rs201552310
|
|
NM_000515.5(GH1):c.-4T>G
|
rs6173
|
|
NM_000515.5(GH1):c.7A>G (p.Thr3Ala)
|
rs2001345
|
|
NM_000525.4(KCNJ11):c.148C>T (p.Arg50Trp)
|
rs1221366142
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)
|
rs864622732
|
|
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)
|
rs879254297
|
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038
|
|
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu)
|
rs2526238022
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
|
rs863225025
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
|
rs1034932344
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10627-1G>C
|
rs1568539909
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg)
|
rs1969830618
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)
|
rs914804033
|
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
|
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp)
|
rs1157851269
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
NM_000545.8(HNF1A):c.1108G>T (p.Val370Phe)
|
rs2135845768
|
|
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1502-19CT[2]
|
rs753496283
|
|
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)
|
rs2135854451
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
NM_000545.8(HNF1A):c.526+5_526+8del
|
rs2135833007
|
|
NM_000545.8(HNF1A):c.608G>T (p.Arg203Leu)
|
rs587780357
|
|
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)
|
rs1555211922
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.138+2T>C
|
rs137854226
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4569+1G>A
|
rs1060500972
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5259+1del
|
rs137854317
|
|
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)
|
rs1051771
|
|
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)
|
rs1553619440
|
|
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
|
rs869025633
|
|
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met)
|
rs1553244881
|
|
NM_000702.4(ATP1A2):c.1652-7C>A
|
rs200102433
|
|
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met)
|
rs777400961
|
|
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)
|
rs386834264
|
|
NM_000722.4(CACNA2D1):c.1956-12dup
|
rs3083235
|
|
NM_000722.4(CACNA2D1):c.1956-4del
|
rs3083235
|
|
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=)
|
rs369276166
|
|
NM_000726.5(CACNB4):c.222A>T (p.Arg74=)
|
rs553682728
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter)
|
rs1908992563
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)
|
rs1596481464
|
|
NM_001009944.3(PKD1):c.11713-1G>A
|
rs867092741
|
|
NM_001009944.3(PKD1):c.12003+14_12003+33del
|
rs1567148835
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys)
|
rs1567215326
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
|
rs775710328
|
|
NM_001009944.3(PKD1):c.288-11G>C
|
rs750270591
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001009944.3(PKD1):c.603C>T (p.His201=)
|
rs13334842
|
|
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=)
|
rs575553075
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)
|
rs1567191044
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu)
|
rs141717814
|
|
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)
|
rs1555451368
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.9568+1G>T
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001029896.2(WDR45):c.436G>A (p.Gly146Arg)
|
rs1569523500
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly)
|
rs1700069190
|
|
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser)
|
rs1558879940
|
|
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr)
|
rs527452801
|
|
NM_001042472.3(ABHD12):c.788-10_788-7del
|
rs565270893
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7190-33TTGT[3]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7321+19_7321+22del
|
rs528866152
|
|
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
|
rs58447305
|
|
NM_001079872.2(CUL4B):c.1257-5T>C
|
rs1569390976
|
|
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)
|
rs1555413299
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
NM_001099922.3(ALG13):c.751-8_751-6del
|
rs765948340
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001101426.4(CRPPA):c.685-25GTT[6]
|
rs142647500
|
|
NM_001101426.4(CRPPA):c.836-9del
|
rs3839757
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
NM_001110556.2(FLNA):c.4599-1G>A
|
rs1057518223
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro)
|
rs1555659856
|
|
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
|
rs77132068
|
|
NM_001122955.4(BSCL2):c.1006-8C>T
|
rs1057521013
|
|
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)
|
rs117440321
|
|
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
|
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs)
|
rs1555762855
|
|
NM_001127222.2(CACNA1A):c.1668+7G>A
|
rs567507041
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser)
|
rs886043758
|
|
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)
|
rs201311000
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn)
|
rs1568485068
|
|
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)
|
rs121908230
|
|
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)
|
rs1555745461
|
|
NM_001127222.2(CACNA1A):c.4089+5_4089+6del
|
rs368911651
|
|
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln)
|
rs1568471977
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)
|
rs121908211
|
|
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=)
|
rs200093958
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)
|
rs201991581
|
|
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)
|
rs539546830
|
|
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)
|
rs1168625480
|
|
NM_001127644.2(GABRA1):c.857-2A>G
|
rs1313965409
|
|
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=)
|
rs36061665
|
|
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)
|
rs72556363
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=)
|
rs34387018
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
NM_001145809.2(MYH14):c.192G>T (p.Gly64=)
|
rs181055215
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=)
|
rs149510427
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.2946+4T>C
|
rs1390205269
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])
|
rs397516634
|
|
NM_001195553.2(DCX):c.304C>T (p.Arg102Cys)
|
rs587783541
|
|
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)
|
rs777844378
|
|
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu)
|
rs61731667
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
NM_001244008.2(KIF1A):c.2694C>G (p.Thr898=)
|
rs555856342
|
|
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)
|
rs10594016
|
|
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)
|
rs10594016
|
|
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)
|
rs373045276
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)
|
rs773542514
|
|
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)
|
rs794729250
|
|
NM_001267550.2(TTN):c.106375-2A>G
|
rs1553482872
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
|
rs1457427060
|
|
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=)
|
rs375347596
|
|
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=)
|
rs373875040
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)
|
rs552951988
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
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.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
NM_001267550.2(TTN):c.36044C>T (p.Thr12015Met)
|
rs199868380
|
|
NM_001267550.2(TTN):c.38660del (p.Lys12887fs)
|
rs761617432
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser)
|
rs150223722
|
|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
|
rs2059955751
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.48161-4del
|
rs730880371
|
|
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)
|
rs532589236
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile)
|
rs562856820
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=)
|
rs187378247
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)
|
rs572401798
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001267550.2(TTN):c.99090T>C (p.Ile33030=)
|
|
|
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140
|
|
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)
|
rs1554308513
|
|
NM_001278064.2(GRM1):c.3138G>A (p.Pro1046=)
|
rs1416889105
|
|
NM_001278064.2(GRM1):c.3213T>C (p.Pro1071=)
|
rs1047006
|
|
NM_001278064.2(GRM1):c.885A>C (p.Thr295=)
|
rs1383948929
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)
|
rs145166802
|
|
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg)
|
rs2045816079
|
|
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr)
|
rs191354103
|
|
NM_001292063.2(OTOG):c.499del (p.Val167fs)
|
rs876657657
|
|
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)
|
rs555793953
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=)
|
rs147753139
|
|
NM_001367721.1(CASK):c.1669-7C>G
|
rs780719523
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)
|
rs199744649
|
|
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)
|
rs121918262
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del)
|
rs528897827
|
|
NM_001372044.2(SHANK3):c.1530-280dup
|
rs745950788
|
|
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)
|
rs114906811
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378452.1(ITPR1):c.-2A>G
|
rs369723935
|
|
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=)
|
rs1297659569
|
|
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=)
|
rs2094337722
|
|
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)
|
rs1553758021
|
|
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu)
|
rs1064794895
|
|
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)
|
rs1057521793
|
|
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)
|
rs1664632655
|
|
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)
|
rs778053688
|
|
NM_001378969.1(KCND3):c.633G>T (p.Pro211=)
|
rs35131566
|
|
NM_001378969.1(KCND3):c.957C>T (p.Ser319=)
|
rs61733426
|
|
NM_001379110.1(SLC9A6):c.*5_*8delinsTT
|
rs797044655
|
|
NM_001379200.1(TBX1):c.1380T>C (p.His460=)
|
rs367711718
|
|
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs)
|
rs778909108
|
|
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3])
|
rs764710670
|
|
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg)
|
rs187721798
|
|
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)
|
rs7244681
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
NM_001458.5(FLNC):c.5427G>C (p.Thr1809=)
|
rs774600814
|
|
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
|
rs770272088
|
|
NM_001540.5(HSPB1):c.318G>C (p.Pro106=)
|
rs750349055
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
|
rs747325717
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001614.5(ACTG1):c.558C>T (p.Thr186=)
|
rs142893042
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.3326-13dup
|
rs139122216
|
|
NM_001845.6(COL4A1):c.808-7C>A
|
rs9588116
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)
|
rs142792529
|
|
NM_001853.4(COL9A3):c.685-4G>T
|
rs57739618
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001961.4(EEF2):c.1908C>G (p.Ala636=)
|
rs139427550
|
|
NM_001961.4(EEF2):c.615C>A (p.Ile205=)
|
rs375130935
|
|
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1614-4G>A
|
rs376324026
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002055.5(GFAP):c.1171+472G>A
|
rs748860341
|
|
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)
|
rs797044569
|
|
NM_002055.5(GFAP):c.462-8dup
|
rs572562362
|
|
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)
|
rs1555611293
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_002206.3(ITGA7):c.1410-3del
|
rs773251917
|
|
NM_002206.3(ITGA7):c.285G>T (p.Pro95=)
|
rs17854601
|
|
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)
|
rs1805094
|
|
NM_002303.6(LEPR):c.2153A>G (p.Asn718Ser)
|
rs1424702726
|
|
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)
|
rs774833271
|
|
NM_002693.2(POLG):c.125_139dup
|
rs780010436
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.158_159delinsCT (p.Gln53Pro)
|
rs1064795981
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)
|
rs774768199
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1905G>T (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.2109C>T (p.Ala703=)
|
rs2307429
|
|
NM_002693.3(POLG):c.2265+1G>A
|
rs796052884
|
|
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)
|
rs1567187837
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.2994G>C (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys)
|
rs374224714
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)
|
rs1085307741
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
NM_002693.3(POLG):c.856-17CTC[6]
|
rs200056162
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
NM_002693.3(POLG):c.975C>G (p.Pro325=)
|
rs551973680
|
|
NM_002739.5(PRKCG):c.1764+1G>A
|
rs1406338491
|
|
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)
|
rs1574892457
|
|
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)
|
rs199789849
|
|
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)
|
rs758702550
|
|
NM_003119.4(SPG7):c.976_987+3del
|
rs878854606
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)
|
rs1567310019
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=)
|
rs575965702
|
|
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)
|
rs373234419
|
|
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser)
|
rs398123761
|
|
NM_003611.3(OFD1):c.2052C>T (p.Ser684=)
|
rs61742891
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
NM_003850.3(SUCLA2):c.-3_-2del
|
rs570547911
|
|
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs)
|
rs777319882
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
NM_003919.3(SGCE):c.1254-9_1254-7del
|
rs201696689
|
|
NM_003919.3(SGCE):c.835_839del (p.Thr279fs)
|
rs863223283
|
|
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
|
rs104894398
|
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
NM_004006.3(DMD):c.3276+1G>C
|
rs398123934
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.8757C>T (p.Asn2919=)
|
rs753234741
|
|
NM_004006.3(DMD):c.932A>G (p.Asp311Gly)
|
rs760932600
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)
|
rs150928856
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.627G>T (p.Pro209=)
|
rs147673066
|
|
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs)
|
rs777218310
|
|
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
|
rs2493842342
|
|
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)
|
rs756693906
|
|
NM_004115.4(FGF14):c.564del (p.Thr190fs)
|
rs2035456443
|
|
NM_004115.4(FGF14):c.693G>A (p.Ala231=)
|
rs34397704
|
|
NM_004115.4(FGF14):c.693G>T (p.Ala231=)
|
rs34397704
|
|
NM_004172.5(SLC1A3):c.168C>T (p.Thr56=)
|
rs751614772
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)
|
rs751365374
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004463.3(FGD1):c.1637-10A>G
|
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=)
|
rs1131691606
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)
|
rs34982899
|
|
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)
|
rs566283411
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
NM_004960.3(FUS):c.515_523+3del
|
|
|
NM_004960.4(FUS):c.1394-2del
|
rs1555509569
|
|
NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del)
|
rs72550890
|
|
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)
|
rs72550890
|
|
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln)
|
rs754927664
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_004977.3(KCNC3):c.1760C>T (p.Pro587Leu)
|
rs554197864
|
|
NM_004984.4(KIF5A):c.1362+7G>A
|
rs1349376862
|
|
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)
|
rs121434443
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)
|
rs73714410
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup)
|
rs555285206
|
|
NM_005445.4(SMC3):c.1410-6_1410-3del
|
rs546049291
|
|
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln)
|
rs78944354
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
|
rs1639253483
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
NM_005529.7(HSPG2):c.7209C>T (p.Gly2403=)
|
rs770212594
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT
|
rs386629395
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
NM_005591.4(MRE11):c.315-14dup
|
rs35062043
|
|
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
|
rs1603216806
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641
|
|
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)
|
rs587777880
|
|
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln)
|
rs150931007
|
|
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu)
|
rs45461899
|
|
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=)
|
rs143588685
|
|
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006767.4(LZTR1):c.628dup (p.Arg210fs)
|
rs1457594219
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
|
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)
|
rs1057522195
|
|
NM_006796.3(AFG3L2):c.1167C>T (p.Val389=)
|
rs1282576516
|
|
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)
|
rs1598820805
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=)
|
rs1018125027
|
|
NM_006946.4(SPTBN2):c.1351-7G>A
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1351-7G>T
|
rs116078747
|
|
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=)
|
rs776570497
|
|
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln)
|
rs147327184
|
|
NM_006946.4(SPTBN2):c.3057T>A (p.Thr1019=)
|
rs141552726
|
|
NM_006946.4(SPTBN2):c.4944G>A (p.Ala1648=)
|
rs371267330
|
|
NM_006946.4(SPTBN2):c.5475G>A (p.Pro1825=)
|
rs34806527
|
|
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu)
|
rs148293687
|
|
NM_006946.4(SPTBN2):c.6502-5C>A
|
rs549378554
|
|
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=)
|
rs750664912
|
|
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
|
rs1941995388
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
|
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)
|
rs1554668805
|
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
|
NM_007217.4(PDCD10):c.150+1G>A
|
rs1553762839
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
|
rs555217187
|
|
NM_012233.3(RAB3GAP1):c.18+4A>G
|
rs550325115
|
|
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=)
|
rs150652124
|
|
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)
|
rs151288302
|
|
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)
|
rs762643863
|
|
NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly)
|
rs576742682
|
|
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)
|
rs147906282
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter)
|
rs2464500607
|
|
NM_014053.4(FLVCR1):c.93T>C (p.Val31=)
|
|
|
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=)
|
rs187552025
|
|
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)
|
rs146225600
|
|
NM_014141.6(CNTNAP2):c.3716-17TCTT[3]
|
rs142426153
|
|
NM_014208.3(DSPP):c.3724_3741dup (p.1236DSS[6])
|
rs780050498
|
|
NM_014231.5(VAMP1):c.66del (p.Gly23fs)
|
rs750911197
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
|
rs144179865
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
rs747920603
|
|
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)
|
rs1156566314
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
rs200930332
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
rs376168781
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
|
rs1593133714
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
|
rs144267558
|
|
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)
|
rs797045938
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
rs760926837
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
|
rs779248938
|
|
NM_014363.6(SACS):c.8385dup (p.Asp2796fs)
|
rs2542218493
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014625.4(NPHS2):c.304G>A (p.Glu102Lys)
|
rs1553315157
|
|
NM_014625.4(NPHS2):c.451+9dup
|
rs542240453
|
|
NM_014795.4(ZEB2):c.3067+6A>T
|
rs143450927
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)
|
rs113014863
|
|
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)
|
rs186003800
|
|
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)
|
rs374673921
|
|
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)
|
rs188569082
|
|
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)
|
rs397704705
|
|
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg)
|
rs387906991
|
|
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)
|
rs794727035
|
|
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)
|
rs1057517987
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.239G>T (p.Gly80Val)
|
rs139827903
|
|
NM_014874.4(MFN2):c.382C>T (p.His128Tyr)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014946.4(SPAST):c.1173+1G>A
|
rs1060502226
|
|
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)
|
rs1558331867
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)
|
rs1553317028
|
|
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs)
|
rs1553317029
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1413+6T>C
|
rs1553318284
|
|
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)
|
rs1553318317
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg)
|
rs1553321196
|
|
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)
|
rs1680185365
|
|
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)
|
rs145206063
|
|
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)
|
rs1553394603
|
|
NM_014946.4(SPAST):c.586+9_586+12del
|
rs554544808
|
|
NM_014946.4(SPAST):c.911dup (p.Thr305fs)
|
rs1553315188
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)
|
rs141880939
|
|
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)
|
rs7156492
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)
|
rs370837940
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)
|
rs150345690
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)
|
rs397514712
|
|
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC
|
rs1555056865
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)
|
rs61886330
|
|
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)
|
rs201422605
|
|
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del)
|
rs771798085
|
|
NM_016373.4(WWOX):c.1239C>T (p.Ser413=)
|
rs199576434
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)
|
rs373866304
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018075.5(ANO10):c.1260C>T (p.Ala420=)
|
rs1365986557
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018075.5(ANO10):c.159A>G (p.Arg53=)
|
rs533186096
|
|
NM_018075.5(ANO10):c.628C>T (p.Leu210=)
|
rs780192694
|
|
NM_018075.5(ANO10):c.946C>T (p.Leu316=)
|
rs2149402360
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe)
|
rs143805893
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
NM_018319.4(TDP1):c.341_342del (p.Lys114fs)
|
rs769278668
|
|
NM_018847.4(KLHL9):c.933G>C (p.Leu311=)
|
rs369605312
|
|
NM_020247.5(COQ8A):c.1792dup (p.Arg598fs)
|
rs2528412329
|
|
NM_020247.5(COQ8A):c.1800C>G (p.Val600=)
|
rs74589348
|
|
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu)
|
rs61995958
|
|
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter)
|
rs201618750
|
|
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
rs1424788778
|
|
NM_020919.4(ALS2):c.1816-10G>T
|
rs191447972
|
|
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del)
|
rs773628251
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
NM_021098.3(CACNA1H):c.4223+8dup
|
rs545116263
|
|
NM_021098.3(CACNA1H):c.4929+8C>T
|
rs59027578
|
|
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu)
|
rs143502097
|
|
NM_021625.5(TRPV4):c.396G>A (p.Pro132=)
|
rs114101785
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022173.4(TIA1):c.223-3del
|
rs750862626
|
|
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)
|
rs181694819
|
|
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=)
|
rs369906914
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
NM_024301.5(FKRP):c.291C>T (p.Pro97=)
|
rs1215872713
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
NM_024411.5(PDYN):c.582C>T (p.Asp194=)
|
rs769461186
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
NM_024426.6(WT1):c.1349A>G (p.His450Arg)
|
rs1851851609
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs)
|
rs75254367
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024589.3(ROGDI):c.117+10C>G
|
rs113858060
|
|
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
|
rs548329168
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
NM_024915.4(GRHL2):c.1806G>A (p.Ser602=)
|
rs61732855
|
|
NM_025137.4(SPG11):c.258-6del
|
rs373234269
|
|
NM_025243.4(SLC19A3):c.*8G>T
|
rs188532608
|
|
NM_025243.4(SLC19A3):c.390G>T (p.Val130=)
|
rs376187918
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
NM_030665.4(RAI1):c.3430A>G (p.Met1144Val)
|
rs1198803613
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3652+6C>T
|
rs1057524041
|
|
NM_030962.4(SBF2):c.619+1G>A
|
rs1565150234
|
|
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)
|
rs1562921605
|
|
NM_031443.4(CCM2):c.134_135del (p.Val45fs)
|
rs1562881980
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_031475.3(ESPN):c.702C>G (p.Ser234=)
|
rs367944375
|
|
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=)
|
rs41311745
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.8730+9_8730+10del
|
rs780180737
|
|
NM_032119.4(ADGRV1):c.9906+9C>T
|
rs1270729721
|
|
NM_032634.4(PIGO):c.714C>T (p.Gly238=)
|
rs148186264
|
|
NM_032737.4(LMNB2):c.402C>T (p.Ser134=)
|
rs148213507
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|
NM_033380.3(COL4A5):c.1032+1G>C
|
rs1569491753
|
|
NM_033380.3(COL4A5):c.1779+1G>A
|
rs104886337
|
|
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
|
rs104886145
|
|
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu)
|
rs1556418210
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp)
|
rs281874702
|
|
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val)
|
rs1569488946
|
|
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)
|
rs1556404027
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)
|
rs104886079
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)
|
rs1553877591
|
|
NM_130837.3(OPA1):c.1377_1377+4del
|
rs1577242473
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1681+3A>G
|
rs1553878573
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)
|
rs2109139343
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter)
|
rs1553797598
|
|
NM_133261.3(GIPC3):c.69G>A (p.Ala23=)
|
rs150473323
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del)
|
rs376040866
|
|
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
|
rs552219028
|
|
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs)
|
rs886041327
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
rs587778771
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152564.5(VPS13B):c.3445+7_3445+9dup
|
rs1335342521
|
|
NM_152743.4(BRAT1):c.-7C>T
|
|
|
NM_152743.4(BRAT1):c.2169T>A (p.Leu723=)
|
rs150300694
|
|
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=)
|
rs139421676
|
|
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=)
|
rs139421676
|
|
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)
|
rs147558863
|
|
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.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)
|
rs397517902
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.807C>G (p.Ala269=)
|
rs1194309507
|
|
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys)
|
rs118192218
|
|
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)
|
rs796052656
|
|
NM_173354.5(SIK1):c.274-3del
|
rs550878772
|
|
NM_173500.4(TTBK2):c.1499G>A (p.Arg500His)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro)
|
rs56039839
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_175914.5(HNF4A):c.224+1G>A
|
rs1600707958
|
|
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp)
|
rs370239205
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
|
rs768043933
|
|
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln)
|
rs1555816615
|
|
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys)
|
rs1555817727
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
|
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys)
|
rs193922480
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_177924.5(ASAH1):c.126-7A>G
|
rs771021569
|
|
NM_181458.4(PAX3):c.586+52C>A
|
rs201251689
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly)
|
rs1555473349
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
NM_182914.3(SYNE2):c.13707+10T>C
|
rs61987277
|
|
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del)
|
rs368230785
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln)
|
rs202240664
|
|
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=)
|
rs79037871
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs)
|
rs1246610728
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
NM_182961.4(SYNE1):c.12607_12609delinsAAA (p.Glu4203Lys)
|
rs2096322019
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)
|
rs201090220
|
|
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)
|
rs1554558620
|
|
NM_182961.4(SYNE1):c.23791-6del
|
rs757124573
|
|
NM_182961.4(SYNE1):c.23979-7G>C
|
rs376918337
|
|
NM_182961.4(SYNE1):c.2727+1G>T
|
rs942550749
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
NM_182961.4(SYNE1):c.7620G>A (p.Thr2540=)
|
rs142663488
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_194248.3(OTOF):c.2401_2402delinsTT (p.Glu801Leu)
|
rs111033392
|
|
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe)
|
rs150132566
|
|
NM_198578.4(LRRK2):c.3497-8del
|
rs201739149
|
|
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)
|
rs33949390
|
|
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs)
|
rs2122409537
|
|
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs)
|
rs760886419
|
|
NM_198994.3(TGM6):c.1431G>A (p.Gly477=)
|
rs373549904
|
|
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup)
|
rs557817405
|
|
NM_201378.4(PLEC):c.71-11710G>T
|
rs200335928
|
|
NM_201378.4(PLEC):c.71-3797C>G
|
rs190108480
|
|
NM_201378.4(PLEC):c.71-5077G>T
|
rs73377225
|
|
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=)
|
rs6992333
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG
|
rs1064794978
|
|
NM_201384.3(PLEC):c.2178+9C>G
|
rs114256617
|
|
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=)
|
rs201552166
|
|
NM_201384.3(PLEC):c.378T>C (p.Ala126=)
|
rs6993938
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln)
|
rs201430180
|
|
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=)
|
rs182961574
|
|
NM_201384.3(PLEC):c.5082G>C (p.Leu1694=)
|
rs182961574
|
|
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His)
|
rs202190540
|
|
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
|
rs886044784
|
|
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
|
rs199504105
|
|
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
|
rs376112916
|
|
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
|
rs200814155
|
|
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu)
|
rs114515505
|
|
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg)
|
rs1801257
|
|
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter)
|
rs1057518028
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
|
NM_213599.3(ANO5):c.1222C>T (p.Leu408=)
|
rs997655691
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
NM_213599.3(ANO5):c.879-7_879-6del
|
rs143977836
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|
Single allele
|
|
|