NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)
|
rs116711473
|
0.00908
|
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln)
|
rs115799619
|
0.00868
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00685
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_000085.5(CLCNKB):c.1297+5G>T
|
rs35351345
|
0.00544
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)
|
rs188840960
|
0.00490
|
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)
|
rs145526996
|
0.00431
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)
|
rs114518437
|
0.00425
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)
|
rs34731820
|
0.00369
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)
|
rs34767818
|
0.00349
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_000125.4(ESR1):c.16C>T (p.His6Tyr)
|
rs139960913
|
0.00317
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys)
|
rs146505967
|
0.00309
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
|
rs61747625
|
0.00307
|
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)
|
rs80358239
|
0.00307
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)
|
rs202082304
|
0.00305
|
NM_019885.4(CYP26B1):c.572G>A (p.Arg191His)
|
rs76025186
|
0.00305
|
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys)
|
rs114610092
|
0.00300
|
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)
|
rs139332126
|
0.00300
|
NM_005559.4(LAMA1):c.5302G>A (p.Val1768Met)
|
rs73938527
|
0.00297
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)
|
rs142893758
|
0.00290
|
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)
|
rs778160013
|
0.00286
|
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)
|
rs10029227
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
0.00284
|
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)
|
rs61751497
|
0.00284
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
NM_016363.5(GP6):c.307C>G (p.Leu103Val)
|
rs28969501
|
0.00283
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)
|
rs35398714
|
0.00276
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe)
|
rs145644205
|
0.00272
|
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)
|
rs140492803
|
0.00272
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_002439.5(MSH3):c.2511G>A (p.Leu837=)
|
rs149628160
|
0.00270
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)
|
rs35960726
|
0.00270
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_000314.8(PTEN):c.-165C>G
|
rs575260016
|
0.00267
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys)
|
rs146354667
|
0.00263
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000233.4(LHCGR):c.458+3A>G
|
rs76210637
|
0.00257
|
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu)
|
rs61740253
|
0.00257
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln)
|
rs142043309
|
0.00251
|
NM_198239.2(CCN6):c.310G>C (p.Val104Leu)
|
rs78266262
|
0.00251
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys)
|
rs111360923
|
0.00248
|
NM_000505.4(F12):c.418C>G (p.Leu140Val)
|
rs35515200
|
0.00247
|
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)
|
rs141309351
|
0.00247
|
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln)
|
rs200390354
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_001349.4(DARS1):c.590G>A (p.Arg197His)
|
rs141522501
|
0.00244
|
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)
|
rs151071546
|
0.00243
|
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)
|
rs143929832
|
0.00242
|
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val)
|
rs150546732
|
0.00240
|
NM_003235.5(TG):c.6200-7T>A
|
rs79724982
|
0.00240
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)
|
rs114926839
|
0.00239
|
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly)
|
rs116306908
|
0.00238
|
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)
|
rs137862641
|
0.00237
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
|
rs145035489
|
0.00236
|
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)
|
rs116836001
|
0.00235
|
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser)
|
rs138358075
|
0.00235
|
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)
|
rs202110076
|
0.00235
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)
|
rs34324145
|
0.00232
|
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)
|
rs144715071
|
0.00232
|
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)
|
rs11575933
|
0.00232
|
NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser)
|
rs146701338
|
0.00232
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_021729.6(VPS11):c.2078T>C (p.Met693Thr)
|
rs146380141
|
0.00230
|
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu)
|
rs200992550
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
NM_006949.4(STXBP2):c.365G>A (p.Arg122His)
|
rs144914451
|
0.00229
|
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)
|
rs150070697
|
0.00229
|
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)
|
rs147966258
|
0.00228
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00228
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
0.00227
|
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)
|
rs115742228
|
0.00227
|
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)
|
rs142688906
|
0.00227
|
NM_001163435.3(TBCK):c.1130A>T (p.Asp377Val)
|
rs34840340
|
0.00225
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)
|
rs139372744
|
0.00220
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_001365276.2(TNXB):c.3272C>A (p.Ser1091Tyr)
|
rs61978561
|
0.00219
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)
|
rs149602485
|
0.00217
|
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr)
|
rs117774280
|
0.00217
|
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)
|
rs139010200
|
0.00216
|
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu)
|
rs199642627
|
0.00215
|
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)
|
rs61741974
|
0.00213
|
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)
|
rs146834675
|
0.00213
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_005245.4(FAT1):c.10966G>A (p.Val3656Ile)
|
rs192691397
|
0.00212
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
NM_006563.5(KLF1):c.311C>T (p.Ala104Val)
|
rs182276666
|
0.00210
|
NM_018255.4(ELP2):c.224C>G (p.Ser75Cys)
|
rs74438152
|
0.00210
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly)
|
rs188733415
|
0.00208
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
NM_020884.7(MYH7B):c.2629C>T (p.Arg877Cys)
|
rs200371401
|
0.00207
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser)
|
rs148593258
|
0.00205
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln)
|
rs116690149
|
0.00203
|
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys)
|
rs74664147
|
0.00203
|
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val)
|
rs144490546
|
0.00203
|
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)
|
rs201006742
|
0.00202
|
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)
|
rs147111211
|
0.00202
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr)
|
rs76249824
|
0.00201
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_001567.4(INPPL1):c.1343C>T (p.Ser448Leu)
|
rs139442327
|
0.00199
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg)
|
rs115436575
|
0.00198
|
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu)
|
rs144278838
|
0.00198
|
NM_017662.5(TRPM6):c.2319G>C (p.Gln773His)
|
rs143164660
|
0.00198
|
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr)
|
rs148679597
|
0.00196
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)
|
rs112319661
|
0.00195
|
NM_000940.3(PON3):c.94C>T (p.Arg32Ter)
|
rs147006695
|
0.00195
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val)
|
rs144843732
|
0.00195
|
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)
|
rs114568905
|
0.00194
|
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val)
|
rs114507258
|
0.00194
|
NM_001012339.3(DNAJC21):c.316-8T>G
|
rs182094106
|
0.00193
|
NM_004563.4(PCK2):c.1234+1G>T
|
rs138881435
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_181882.3(PRX):c.445G>A (p.Ala149Thr)
|
rs142436391
|
0.00193
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)
|
rs144662546
|
0.00189
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)
|
rs200815412
|
0.00187
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys)
|
rs141224456
|
0.00186
|
NM_002742.3(PRKD1):c.1356C>T (p.Thr452=)
|
rs147948478
|
0.00185
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn)
|
rs139786814
|
0.00183
|
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His)
|
rs111515657
|
0.00182
|
NM_024876.4(COQ8B):c.1036-3C>G
|
rs200061712
|
0.00182
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_198060.4(NRAP):c.2963A>C (p.Gln988Pro)
|
rs150955833
|
0.00177
|
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly)
|
rs28945070
|
0.00176
|
NM_020937.4(FANCM):c.491A>C (p.His164Pro)
|
rs144278051
|
0.00176
|
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)
|
rs61996318
|
0.00175
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu)
|
rs143606483
|
0.00175
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00175
|
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)
|
rs115199093
|
0.00175
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)
|
rs148671332
|
0.00172
|
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg)
|
rs200951744
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)
|
rs35942532
|
0.00171
|
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp)
|
rs139293796
|
0.00171
|
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)
|
rs35797405
|
0.00170
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)
|
rs61750320
|
0.00170
|
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)
|
rs144530996
|
0.00170
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)
|
rs192242889
|
0.00168
|
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln)
|
rs143495342
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_005559.4(LAMA1):c.5794C>G (p.Leu1932Val)
|
rs115759032
|
0.00168
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_005276.4(GPD1):c.612G>A (p.Lys204=)
|
rs35256655
|
0.00166
|
NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)
|
rs77934668
|
0.00166
|
NM_017563.5(IL17RD):c.878C>T (p.Pro293Leu)
|
rs150457965
|
0.00166
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00166
|
NM_130810.4(DNAAF4):c.881A>T (p.Lys294Met)
|
rs116339967
|
0.00165
|
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)
|
rs76897604
|
0.00164
|
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser)
|
rs78782061
|
0.00164
|
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)
|
rs144448831
|
0.00164
|
NM_016953.4(PDE11A):c.155G>C (p.Arg52Thr)
|
rs77972073
|
0.00164
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
NM_173630.4(RTTN):c.2804A>G (p.His935Arg)
|
rs145832674
|
0.00164
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
NM_138295.5(PKD1L1):c.3475T>C (p.Tyr1159His)
|
rs111983425
|
0.00163
|
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)
|
rs61741025
|
0.00162
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_003906.5(MCM3AP):c.1267A>G (p.Thr423Ala)
|
rs144151494
|
0.00162
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg)
|
rs75923324
|
0.00161
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_004793.4(LONP1):c.767C>T (p.Ala256Val)
|
rs116591583
|
0.00161
|
NM_005559.4(LAMA1):c.2900G>A (p.Gly967Asp)
|
rs141851670
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly)
|
rs142729488
|
0.00160
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_005726.6(TSFM):c.797T>A (p.Leu266His)
|
rs146777264
|
0.00160
|
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
|
rs143072070
|
0.00159
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr)
|
rs61748535
|
0.00158
|
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His)
|
rs148104401
|
0.00158
|
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)
|
rs147233112
|
0.00158
|
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser)
|
rs202082944
|
0.00158
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)
|
rs554989865
|
0.00157
|
NM_001382567.1(STIM1):c.1634+287G>A
|
rs562406813
|
0.00157
|
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr)
|
rs34052957
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)
|
rs41299613
|
0.00157
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu)
|
rs143293913
|
0.00156
|
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)
|
rs201294090
|
0.00156
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)
|
rs1805378
|
0.00155
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
|
rs139659618
|
0.00154
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)
|
rs78028658
|
0.00153
|
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)
|
rs144322413
|
0.00152
|
NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)
|
rs141383988
|
0.00152
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
|
rs144060377
|
0.00151
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)
|
rs41529445
|
0.00151
|
NM_005993.5(TBCD):c.2566A>G (p.Met856Val)
|
rs202149526
|
0.00151
|
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln)
|
rs111476645
|
0.00151
|
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu)
|
rs201749187
|
0.00151
|
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)
|
rs61995897
|
0.00151
|
NM_022081.6(HPS4):c.445A>G (p.Asn149Asp)
|
rs140430822
|
0.00151
|
NM_024101.7(MLPH):c.1240G>C (p.Glu414Gln)
|
rs61737688
|
0.00151
|
NM_001128431.4(SLC39A14):c.23C>G (p.Pro8Arg)
|
rs34328787
|
0.00150
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
NM_001372.4(DNAH9):c.12835G>A (p.Gly4279Ser)
|
rs78845357
|
0.00150
|
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
|
rs3212977
|
0.00150
|
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
|
rs142476892
|
0.00150
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)
|
rs121918239
|
0.00149
|
NM_001242908.2(RSPO1):c.658C>T (p.Arg220Trp)
|
rs182482113
|
0.00149
|
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)
|
rs199706377
|
0.00149
|
NM_001486.4(GCKR):c.1135dup (p.Thr379fs)
|
rs573498430
|
0.00149
|
NM_003322.6(TULP1):c.1297G>A (p.Glu433Lys)
|
rs74461100
|
0.00149
|
NM_004793.4(LONP1):c.742G>A (p.Asp248Asn)
|
rs149169865
|
0.00149
|
NM_032380.5(GFM2):c.1234C>T (p.Arg412Cys)
|
rs142425196
|
0.00149
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val)
|
rs201867922
|
0.00148
|
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)
|
rs200484625
|
0.00148
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)
|
rs141719745
|
0.00148
|
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)
|
rs141467694
|
0.00147
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_001369268.1(ACAN):c.230G>A (p.Arg77His)
|
rs199701329
|
0.00147
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
0.00146
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
NM_001543.5(NDST1):c.239G>A (p.Arg80His)
|
rs145390254
|
0.00145
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
NM_022095.4(ZNF335):c.1418G>A (p.Arg473His)
|
rs137901051
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr)
|
rs140015545
|
0.00144
|
NM_182476.3(COQ6):c.395A>G (p.Asp132Gly)
|
rs45496292
|
0.00144
|
NM_004525.3(LRP2):c.7406A>G (p.Asp2469Gly)
|
rs116507519
|
0.00143
|
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)
|
rs145496449
|
0.00143
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
NM_000213.5(ITGB4):c.4489C>T (p.Arg1497Cys)
|
rs148205043
|
0.00141
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu)
|
rs9282796
|
0.00141
|
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)
|
rs28903090
|
0.00141
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln)
|
rs200354654
|
0.00141
|
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile)
|
rs183060698
|
0.00141
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
NM_173483.4(CYP4F22):c.463C>T (p.His155Tyr)
|
rs141382984
|
0.00140
|
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)
|
rs33995463
|
0.00140
|
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)
|
rs142409885
|
0.00139
|
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe)
|
rs144451000
|
0.00139
|
NM_033100.4(CDHR1):c.1553+6T>C
|
rs199567321
|
0.00139
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)
|
rs114917863
|
0.00137
|
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)
|
rs104895464
|
0.00137
|
NM_001723.7(DST):c.4049C>T (p.Thr1350Met)
|
rs45472691
|
0.00137
|
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=)
|
rs372790303
|
0.00137
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys)
|
rs45568837
|
0.00136
|
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn)
|
rs570106950
|
0.00136
|
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)
|
rs759725715
|
0.00136
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)
|
rs121918426
|
0.00135
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr)
|
rs182894280
|
0.00135
|
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)
|
rs200656662
|
0.00135
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_003235.5(TG):c.3999C>G (p.Ile1333Met)
|
rs150728539
|
0.00134
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly)
|
rs368458853
|
0.00133
|
NM_001235.5(SERPINH1):c.1219G>C (p.Val407Leu)
|
rs138241050
|
0.00133
|
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)
|
rs199510509
|
0.00133
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_005559.4(LAMA1):c.4550T>A (p.Val1517Asp)
|
rs146822562
|
0.00132
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
NM_000428.3(LTBP2):c.3863G>T (p.Gly1288Val)
|
rs139481866
|
0.00131
|
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)
|
rs145163157
|
0.00131
|
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)
|
rs201407276
|
0.00131
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_032444.4(SLX4):c.422G>T (p.Gly141Val)
|
rs77306735
|
0.00131
|
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)
|
rs34928857
|
0.00131
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val)
|
rs148633216
|
0.00130
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)
|
rs148724199
|
0.00129
|
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)
|
rs200897068
|
0.00128
|
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)
|
rs140222993
|
0.00128
|
NM_002439.5(MSH3):c.1313C>T (p.Ala438Val)
|
rs35121792
|
0.00128
|
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile)
|
rs147676957
|
0.00128
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp)
|
rs140000699
|
0.00127
|
NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu)
|
rs149197378
|
0.00127
|
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)
|
rs184249075
|
0.00126
|
NM_001145026.2(PTPRQ):c.3313A>G (p.Thr1105Ala)
|
rs186746372
|
0.00126
|
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu)
|
rs199855270
|
0.00126
|
NM_005559.4(LAMA1):c.6250C>T (p.Arg2084Trp)
|
rs146111631
|
0.00126
|
NM_005876.5(SPEG):c.6358C>T (p.Leu2120Phe)
|
rs201901718
|
0.00126
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_033004.4(NLRP1):c.1732G>A (p.Gly578Ser)
|
rs115799546
|
0.00126
|
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val)
|
rs149399707
|
0.00126
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000327.4(ROM1):c.47G>A (p.Arg16His)
|
rs143166696
|
0.00125
|
NM_000552.5(VWF):c.546G>A (p.Ser182=)
|
rs143054357
|
0.00125
|
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)
|
rs10227922
|
0.00125
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001813.3(CENPE):c.326C>G (p.Ala109Gly)
|
rs115065523
|
0.00125
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
NM_001387430.1(SH2B1):c.269C>A (p.Pro90His)
|
rs149091795
|
0.00124
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn)
|
rs140344858
|
0.00123
|
NM_005612.5(REST):c.2855A>G (p.Asp952Gly)
|
rs148565623
|
0.00123
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe)
|
rs146551545
|
0.00123
|
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr)
|
rs150039184
|
0.00123
|
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)
|
rs145135349
|
0.00123
|
NM_000369.5(TSHR):c.929G>A (p.Arg310His)
|
rs139286618
|
0.00122
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val)
|
rs138655269
|
0.00121
|
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu)
|
rs200050988
|
0.00121
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)
|
rs147393700
|
0.00121
|
NM_015001.3(SPEN):c.908A>G (p.Asp303Gly)
|
rs150756182
|
0.00121
|
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)
|
rs140301218
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_000153.4(GALC):c.-327G>T
|
rs185943390
|
0.00120
|
NM_001129.5(AEBP1):c.260C>T (p.Pro87Leu)
|
rs75107445
|
0.00120
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_015378.4(VPS13D):c.459A>C (p.Gln153His)
|
rs116415833
|
0.00120
|
NM_015466.4(PTPN23):c.4618A>G (p.Ile1540Val)
|
rs111852098
|
0.00120
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
NM_004793.4(LONP1):c.2711G>A (p.Arg904His)
|
rs112807920
|
0.00119
|
NM_016023.5(OTUD6B):c.-39A>G
|
rs199542428
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu)
|
rs201929423
|
0.00118
|
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)
|
rs201280938
|
0.00118
|
NM_005876.5(SPEG):c.1753G>A (p.Gly585Ser)
|
rs200066956
|
0.00118
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
|
rs77401687
|
0.00117
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)
|
rs148321018
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)
|
rs114473792
|
0.00116
|
NM_001385.3(DPYS):c.264+5C>T
|
rs672601293
|
0.00116
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val)
|
rs142941257
|
0.00116
|
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp)
|
rs143832637
|
0.00116
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met)
|
rs146002320
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
NM_005005.3(NDUFB9):c.109T>C (p.Tyr37His)
|
rs140417066
|
0.00114
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr)
|
rs199936876
|
0.00114
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)
|
rs116448158
|
0.00113
|
NM_001349.4(DARS1):c.1088G>A (p.Gly363Glu)
|
rs2228660
|
0.00113
|
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)
|
rs141002044
|
0.00113
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)
|
rs138586345
|
0.00113
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)
|
rs202127176
|
0.00112
|
NM_002439.5(MSH3):c.1522A>G (p.Lys508Glu)
|
rs146768828
|
0.00112
|
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser)
|
rs115198722
|
0.00112
|
NM_000163.5(GHR):c.239G>T (p.Gly80Val)
|
rs114025919
|
0.00111
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)
|
rs200408101
|
0.00111
|
NM_004525.3(LRP2):c.170C>T (p.Ala57Val)
|
rs115350461
|
0.00111
|
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)
|
rs143189763
|
0.00111
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)
|
rs146081967
|
0.00111
|
NM_182914.3(SYNE2):c.7643+6T>C
|
rs144143344
|
0.00111
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
|
rs116118397
|
0.00110
|
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)
|
rs145929269
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_015378.4(VPS13D):c.1414+5G>A
|
rs190463258
|
0.00110
|
NM_001122769.3(LCA5):c.902G>A (p.Arg301His)
|
rs139142572
|
0.00109
|
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)
|
rs201950081
|
0.00109
|
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe)
|
rs148791938
|
0.00109
|
NM_004069.6(AP2S1):c.153+6G>A
|
rs201686470
|
0.00109
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_000338.3(SLC12A1):c.2287C>G (p.Leu763Val)
|
rs148689126
|
0.00108
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_000550.3(TYRP1):c.1554G>C (p.Gln518His)
|
rs41305647
|
0.00108
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val)
|
rs151282774
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)
|
rs142215888
|
0.00108
|
NM_005245.4(FAT1):c.11497A>G (p.Thr3833Ala)
|
rs201279606
|
0.00108
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00108
|
NM_006267.5(RANBP2):c.783-6T>C
|
rs138540027
|
0.00108
|
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe)
|
rs183141566
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)
|
rs200053639
|
0.00108
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys)
|
rs150681316
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_207361.6(FREM2):c.3539C>G (p.Pro1180Arg)
|
rs139236965
|
0.00107
|
NM_001377229.1(DISP1):c.3931G>A (p.Gly1311Ser)
|
rs143356409
|
0.00106
|
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly)
|
rs144427399
|
0.00106
|
NM_001399.5(EDA):c.458G>A (p.Arg153His)
|
rs140642493
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)
|
rs150656271
|
0.00106
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
NM_201631.4(TGM5):c.1632T>G (p.Ser544Arg)
|
rs148226418
|
0.00106
|
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)
|
rs146170855
|
0.00105
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_002439.5(MSH3):c.1160T>A (p.Phe387Tyr)
|
rs140543135
|
0.00105
|
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
|
rs148611356
|
0.00105
|
NM_005245.4(FAT1):c.635A>T (p.Tyr212Phe)
|
rs61747592
|
0.00105
|
NM_022124.6(CDH23):c.2865C>T (p.Arg955=)
|
rs79636933
|
0.00105
|
NM_032656.4(DHX37):c.1270G>A (p.Ala424Thr)
|
rs114271603
|
0.00105
|
NM_153816.6(SNX14):c.1074C>T (p.Gly358=)
|
rs41271627
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)
|
rs149001418
|
0.00104
|
NM_182977.3(NNT):c.3224C>T (p.Ala1075Val)
|
rs139947920
|
0.00104
|
NM_020442.6(VARS2):c.451T>C (p.Ser151Pro)
|
rs150863068
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr)
|
rs62641623
|
0.00103
|
NM_198129.4(LAMA3):c.4643A>G (p.Asp1548Gly)
|
rs201045690
|
0.00103
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His)
|
rs55876679
|
0.00102
|
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)
|
rs1537044
|
0.00102
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr)
|
rs144209883
|
0.00102
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn)
|
rs146861723
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_016343.4(CENPF):c.4313A>G (p.Tyr1438Cys)
|
rs142984971
|
0.00101
|
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
|
rs11547480
|
0.00101
|
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val)
|
rs201625904
|
0.00101
|
NM_025074.7(FRAS1):c.10237C>T (p.Pro3413Ser)
|
rs189612722
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
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_000163.5(GHR):c.536G>A (p.Arg179His)
|
rs6181
|
0.00100
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys)
|
rs115203053
|
0.00100
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_002662.5(PLD1):c.709G>T (p.Gly237Cys)
|
rs149535568
|
0.00100
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)
|
rs141243126
|
0.00099
|
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)
|
rs114714497
|
0.00099
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)
|
rs147210663
|
0.00098
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)
|
rs138315990
|
0.00098
|
NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu)
|
rs45504597
|
0.00098
|
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)
|
rs113570783
|
0.00098
|
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)
|
rs149919890
|
0.00098
|
NM_004341.5(CAD):c.3541C>T (p.Arg1181Trp)
|
rs145562987
|
0.00098
|
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)
|
rs148299415
|
0.00098
|
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)
|
rs56099091
|
0.00098
|
NM_005876.5(SPEG):c.9764G>A (p.Arg3255His)
|
rs55821615
|
0.00098
|
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser)
|
rs200543358
|
0.00098
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
NM_032380.5(GFM2):c.1424C>T (p.Ala475Val)
|
rs142986380
|
0.00098
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
|
rs142192097
|
0.00097
|
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
|
rs142872154
|
0.00097
|
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu)
|
rs147263592
|
0.00096
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
NM_001252024.2(TRPM1):c.3293+5G>A
|
rs201442201
|
0.00096
|
NM_001278512.2(AP3B2):c.189G>A (p.Ala63=)
|
rs145841558
|
0.00096
|
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys)
|
rs201690494
|
0.00096
|
NM_005276.4(GPD1):c.431T>C (p.Met144Thr)
|
rs146239968
|
0.00096
|
NM_016038.4(SBDS):c.127G>T (p.Val43Leu)
|
rs147652512
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_025233.7(COASY):c.-1C>T
|
rs147852474
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_173689.7(CRB2):c.737G>A (p.Arg246His)
|
rs150339335
|
0.00096
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
NM_017433.5(MYO3A):c.585+4A>T
|
rs202189844
|
0.00095
|
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)
|
rs148598583
|
0.00094
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_017565.4(FAM20A):c.193G>A (p.Gly65Ser)
|
rs143371801
|
0.00094
|
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
|
rs140799936
|
0.00094
|
NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val)
|
rs144046917
|
0.00093
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_001852.4(COL9A2):c.775G>A (p.Gly259Ser)
|
rs148362133
|
0.00093
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
NM_005664.4(MKRN3):c.425G>C (p.Gly142Ala)
|
rs144864886
|
0.00093
|
NM_015972.4(POLR1D):c.329T>C (p.Val110Ala)
|
rs138256149
|
0.00093
|
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)
|
rs138061928
|
0.00093
|
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His)
|
rs115035890
|
0.00093
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=)
|
rs190062687
|
0.00092
|
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)
|
rs150610444
|
0.00092
|
NM_015836.4(WARS2):c.754C>T (p.Arg252Cys)
|
rs149657255
|
0.00092
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)
|
rs149359927
|
0.00091
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln)
|
rs151259375
|
0.00091
|
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)
|
rs201399007
|
0.00091
|
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)
|
rs114112112
|
0.00091
|
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala)
|
rs143006771
|
0.00091
|
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr)
|
rs111554790
|
0.00091
|
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly)
|
rs144732922
|
0.00091
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)
|
rs144081297
|
0.00090
|
NM_212550.5(BLOC1S3):c.415G>T (p.Val139Leu)
|
rs749030472
|
0.00090
|
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)
|
rs138002006
|
0.00089
|
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile)
|
rs72654357
|
0.00089
|
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser)
|
rs139138043
|
0.00089
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp)
|
rs35045151
|
0.00089
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn)
|
rs139523655
|
0.00089
|
NM_005559.4(LAMA1):c.2808+5G>A
|
rs201030108
|
0.00089
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=)
|
rs151021715
|
0.00089
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met)
|
rs138249243
|
0.00089
|
NM_000236.3(LIPC):c.815C>T (p.Thr272Ile)
|
rs148453176
|
0.00088
|
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)
|
rs199989979
|
0.00088
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00088
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)
|
rs144498273
|
0.00088
|
NM_001042545.2(LTBP4):c.814G>T (p.Ala272Ser)
|
rs199990200
|
0.00088
|
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser)
|
rs192944055
|
0.00088
|
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
|
rs373605761
|
0.00088
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg)
|
rs144496753
|
0.00088
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)
|
rs112433432
|
0.00088
|
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu)
|
rs200227715
|
0.00087
|
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn)
|
rs139092703
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly)
|
rs555411841
|
0.00086
|
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val)
|
rs201277979
|
0.00086
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr)
|
rs145209035
|
0.00086
|
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe)
|
rs140729669
|
0.00086
|
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His)
|
rs142312281
|
0.00086
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp)
|
rs143473050
|
0.00086
|
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
|
rs138225703
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)
|
rs199861426
|
0.00086
|
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)
|
rs200566665
|
0.00086
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys)
|
rs143174906
|
0.00085
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr)
|
rs114804033
|
0.00085
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
NM_004826.4(ECEL1):c.1868G>C (p.Gly623Ala)
|
rs138272112
|
0.00085
|
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe)
|
rs145589304
|
0.00085
|
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)
|
rs116321057
|
0.00085
|
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)
|
rs61760166
|
0.00084
|
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg)
|
rs149431376
|
0.00084
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_004667.6(HERC2):c.3357G>A (p.Ala1119=)
|
rs140345440
|
0.00084
|
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)
|
rs150314805
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu)
|
rs56143179
|
0.00083
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352
|
0.00083
|
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys)
|
rs143150497
|
0.00083
|
NM_005262.3(GFER):c.550C>A (p.Pro184Thr)
|
rs183638147
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_012208.4(HARS2):c.784C>G (p.Pro262Ala)
|
rs145104612
|
0.00083
|
NM_018060.4(IARS2):c.1057A>T (p.Thr353Ser)
|
rs141215374
|
0.00083
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
NM_022095.4(ZNF335):c.1646+5G>T
|
rs149232277
|
0.00083
|
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)
|
rs78320653
|
0.00083
|
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln)
|
rs114513239
|
0.00083
|
NM_183357.3(ADCY5):c.55G>A (p.Ala19Thr)
|
rs550254165
|
0.00083
|
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val)
|
rs372323929
|
0.00082
|
NM_015114.3(ANKLE2):c.530C>T (p.Ser177Leu)
|
rs185977448
|
0.00082
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00082
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00082
|
NM_000128.4(F11):c.797G>A (p.Ser266Asn)
|
rs145168351
|
0.00081
|
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)
|
rs200650758
|
0.00081
|
NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val)
|
rs140905333
|
0.00081
|
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)
|
rs35973133
|
0.00081
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00081
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
|
rs144937332
|
0.00081
|
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
|
rs142658611
|
0.00081
|
NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser)
|
rs142123958
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_024996.7(GFM1):c.667A>G (p.Ile223Val)
|
rs143446452
|
0.00081
|
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala)
|
rs377674360
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)
|
rs142284613
|
0.00081
|
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)
|
rs138156449
|
0.00080
|
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)
|
rs150175668
|
0.00080
|
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)
|
rs372935580
|
0.00080
|
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)
|
rs11702055
|
0.00080
|
NM_002181.4(IHH):c.857C>T (p.Pro286Leu)
|
rs140093604
|
0.00080
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His)
|
rs139375212
|
0.00079
|
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp)
|
rs139188499
|
0.00079
|
NM_005559.4(LAMA1):c.6025G>A (p.Ala2009Thr)
|
rs147813944
|
0.00079
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
NM_006059.4(LAMC3):c.2227A>G (p.Asn743Asp)
|
rs36030184
|
0.00079
|
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)
|
rs199765304
|
0.00079
|
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
|
rs137852660
|
0.00079
|
NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu)
|
rs147149511
|
0.00079
|
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn)
|
rs201473797
|
0.00079
|
NM_000275.3(OCA2):c.1117-17T>C
|
rs200081580
|
0.00078
|
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly)
|
rs201229193
|
0.00078
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu)
|
rs116237993
|
0.00078
|
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)
|
rs61757375
|
0.00078
|
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_006059.4(LAMC3):c.3374C>T (p.Ser1125Leu)
|
rs151213335
|
0.00078
|
NM_014317.5(PDSS1):c.760G>C (p.Glu254Gln)
|
rs145758711
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)
|
rs143218310
|
0.00078
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00078
|
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)
|
rs144808448
|
0.00078
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)
|
rs149459564
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln)
|
rs143767864
|
0.00077
|
NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)
|
rs150751460
|
0.00077
|
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)
|
rs145830034
|
0.00077
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
NM_025207.5(FLAD1):c.1309C>T (p.Arg437Cys)
|
rs146865554
|
0.00077
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)
|
rs144900788
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)
|
rs150556877
|
0.00076
|
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)
|
rs112933248
|
0.00076
|
NM_002296.4(LBR):c.1237C>T (p.Arg413Cys)
|
rs144672633
|
0.00076
|
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu)
|
rs145099391
|
0.00076
|
NM_003764.4(STX11):c.26T>G (p.Leu9Arg)
|
rs34470310
|
0.00076
|
NM_004667.6(HERC2):c.2747-3C>A
|
rs200632307
|
0.00076
|
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)
|
rs141934766
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile)
|
rs144251950
|
0.00076
|
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)
|
rs61744648
|
0.00076
|
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr)
|
rs111033351
|
0.00076
|
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)
|
rs146913105
|
0.00076
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)
|
rs150499790
|
0.00075
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
NM_025207.5(FLAD1):c.787C>T (p.Arg263Trp)
|
rs146501091
|
0.00075
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu)
|
rs202061419
|
0.00074
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)
|
rs116099040
|
0.00074
|
NM_018713.3(SLC30A10):c.1293C>A (p.His431Gln)
|
rs79106013
|
0.00074
|
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser)
|
rs150483675
|
0.00074
|
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)
|
rs147929290
|
0.00074
|
NM_000124.4(ERCC6):c.150G>A (p.Val50=)
|
rs80133923
|
0.00073
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)
|
rs143282164
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)
|
rs145478892
|
0.00073
|
NM_001083961.2(WDR62):c.303C>A (p.Asn101Lys)
|
rs139371621
|
0.00073
|
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala)
|
rs147309177
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_002936.6(RNASEH1):c.286A>T (p.Ser96Cys)
|
rs138292342
|
0.00073
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu)
|
rs140741466
|
0.00073
|
NM_145199.3(LIPT1):c.452G>A (p.Arg151Lys)
|
rs150683925
|
0.00073
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_000844.4(GRM7):c.569G>A (p.Arg190Gln)
|
rs144324520
|
0.00072
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
NM_001148.6(ANK2):c.669+3A>G
|
rs370475820
|
0.00072
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn)
|
rs112430701
|
0.00072
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)
|
rs142036980
|
0.00071
|
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)
|
rs61741164
|
0.00071
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val)
|
rs200467869
|
0.00071
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)
|
rs111033261
|
0.00071
|
NM_001292063.2(OTOG):c.2249G>A (p.Arg750His)
|
rs112634925
|
0.00071
|
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)
|
rs139012426
|
0.00071
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_014633.5(CTR9):c.3211G>A (p.Gly1071Ser)
|
rs35766432
|
0.00071
|
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly)
|
rs149364914
|
0.00071
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
NM_001813.3(CENPE):c.6437A>G (p.Tyr2146Cys)
|
rs141813170
|
0.00070
|
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)
|
rs148558068
|
0.00070
|
NM_173560.4(RFX6):c.2553G>T (p.Gln851His)
|
rs145117989
|
0.00070
|
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His)
|
rs151053969
|
0.00069
|
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)
|
rs181292216
|
0.00069
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)
|
rs201442593
|
0.00069
|
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)
|
rs117423374
|
0.00069
|
NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr)
|
rs200325312
|
0.00069
|
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)
|
rs73035708
|
0.00069
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
NM_025265.4(TSEN2):c.376C>T (p.Arg126Cys)
|
rs151133206
|
0.00069
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)
|
rs149678604
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln)
|
rs146140125
|
0.00068
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp)
|
rs201328043
|
0.00068
|
NM_005002.5(NDUFA9):c.722A>G (p.Tyr241Cys)
|
rs139012735
|
0.00068
|
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)
|
rs142768885
|
0.00068
|
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)
|
rs143676075
|
0.00068
|
NM_018960.6(GNMT):c.469C>T (p.Arg157Trp)
|
rs142613217
|
0.00068
|
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)
|
rs200228767
|
0.00068
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)
|
rs573577299
|
0.00068
|
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys)
|
rs141802822
|
0.00067
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met)
|
rs192347853
|
0.00067
|
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)
|
rs140018418
|
0.00067
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)
|
rs141724500
|
0.00067
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu)
|
rs116568645
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser)
|
rs184213204
|
0.00066
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)
|
rs78753252
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00066
|
NM_017547.4(FOXRED1):c.683G>A (p.Arg228Gln)
|
rs139851379
|
0.00066
|
NM_017909.4(RMND1):c.320T>A (p.Val107Glu)
|
rs199787718
|
0.00066
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_194279.4(ISCA2):c.83C>T (p.Ala28Val)
|
rs371830968
|
0.00066
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
0.00065
|
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)
|
rs143163385
|
0.00065
|
NM_001365276.2(TNXB):c.8285A>G (p.His2762Arg)
|
rs376978176
|
0.00065
|
NM_001368882.1(COL13A1):c.1931T>C (p.Ile644Thr)
|
rs147220162
|
0.00065
|
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)
|
rs144513268
|
0.00065
|
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly)
|
rs200545555
|
0.00065
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
NM_015721.3(GEMIN4):c.2197C>T (p.Leu733=)
|
rs188821606
|
0.00065
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_213599.3(ANO5):c.294G>A (p.Ala98=)
|
rs142858990
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His)
|
rs56248469
|
0.00064
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
NM_001368882.1(COL13A1):c.630+2T>C
|
rs546473709
|
0.00064
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)
|
rs76714828
|
0.00064
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)
|
rs143917509
|
0.00064
|
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)
|
rs142982022
|
0.00064
|
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)
|
rs149887215
|
0.00064
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
NM_139242.4(MTFMT):c.35C>T (p.Pro12Leu)
|
rs774208069
|
0.00064
|
NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)
|
rs183427173
|
0.00064
|
NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg)
|
rs138948307
|
0.00064
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)
|
rs141845482
|
0.00063
|
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)
|
rs199473505
|
0.00063
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)
|
rs779791579
|
0.00063
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)
|
rs200529550
|
0.00063
|
NM_001122659.3(EDNRB):c.227G>T (p.Arg76Met)
|
rs2228271
|
0.00063
|
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
|
rs141953425
|
0.00063
|
NM_001379500.1(COL18A1):c.107-12197G>A
|
rs200284308
|
0.00063
|
NM_004304.5(ALK):c.932G>A (p.Arg311His)
|
rs150966028
|
0.00063
|
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met)
|
rs145201961
|
0.00063
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)
|
rs137870876
|
0.00063
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)
|
rs751346260
|
0.00062
|
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe)
|
rs148426950
|
0.00062
|
NM_032730.5(RTN4IP1):c.335G>A (p.Gly112Glu)
|
rs143924605
|
0.00062
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_000540.3(RYR1):c.9555-7C>G
|
rs376790946
|
0.00061
|
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)
|
rs151335249
|
0.00061
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys)
|
rs139716832
|
0.00061
|
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser)
|
rs368261417
|
0.00061
|
NM_001292063.2(OTOG):c.7324C>G (p.Leu2442Val)
|
rs573071858
|
0.00061
|
NM_001367624.2(ZNF469):c.6829G>A (p.Val2277Ile)
|
rs760816769
|
0.00061
|
NM_001367624.2(ZNF469):c.8860T>C (p.Trp2954Arg)
|
rs557063759
|
0.00061
|
NM_001844.5(COL2A1):c.398C>A (p.Pro133His)
|
rs201234519
|
0.00061
|
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)
|
rs143848379
|
0.00061
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_003906.5(MCM3AP):c.3305C>T (p.Ala1102Val)
|
rs142784252
|
0.00061
|
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)
|
rs146175803
|
0.00061
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00061
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg)
|
rs148667964
|
0.00061
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_057176.3(BSND):c.851G>A (p.Gly284Asp)
|
rs150426464
|
0.00061
|
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)
|
rs140388347
|
0.00061
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)
|
rs201041716
|
0.00061
|
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe)
|
rs145939548
|
0.00060
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00060
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)
|
rs191798831
|
0.00060
|
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met)
|
rs200848641
|
0.00059
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001286577.2(C2CD3):c.5404T>C (p.Tyr1802His)
|
rs141407711
|
0.00059
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
NM_003235.5(TG):c.455G>A (p.Arg152His)
|
rs114781869
|
0.00059
|
NM_018136.5(ASPM):c.9272G>A (p.Arg3091His)
|
rs147005963
|
0.00059
|
NM_020745.4(AARS2):c.1195A>C (p.Asn399His)
|
rs148363748
|
0.00059
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_003480.4(MFAP5):c.12G>A (p.Leu4=)
|
rs148879406
|
0.00058
|
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr)
|
rs61742059
|
0.00058
|
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)
|
rs74726213
|
0.00058
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_012338.4(TSPAN12):c.181C>T (p.Pro61Ser)
|
rs145449060
|
0.00058
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)
|
rs61749682
|
0.00057
|
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)
|
rs199473068
|
0.00057
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001289104.2(PRKCSH):c.454C>T (p.Arg152Trp)
|
rs151207349
|
0.00057
|
NM_001367624.2(ZNF469):c.6326A>G (p.Asp2109Gly)
|
rs755640019
|
0.00057
|
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys)
|
rs199972466
|
0.00057
|
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)
|
rs142833529
|
0.00057
|
NM_017827.4(SARS2):c.352C>T (p.Arg118Trp)
|
rs147412052
|
0.00057
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)
|
rs146574121
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val)
|
rs145178648
|
0.00057
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
NM_206933.4(USH2A):c.6989A>G (p.Glu2330Gly)
|
rs138992047
|
0.00057
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln)
|
rs139629564
|
0.00056
|
NM_001042545.2(LTBP4):c.123C>T (p.Cys41=)
|
rs370611661
|
0.00056
|
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)
|
rs143513466
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)
|
rs61735580
|
0.00056
|
NM_003108.4(SOX11):c.709C>G (p.Leu237Val)
|
rs140772793
|
0.00056
|
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)
|
rs104894763
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001291303.3(FAT4):c.13555G>A (p.Ala4519Thr)
|
rs202148971
|
0.00055
|
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)
|
rs144411579
|
0.00055
|
NM_001378609.3(OTOGL):c.169-8T>C
|
rs189897002
|
0.00055
|
NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe)
|
rs181109105
|
0.00055
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)
|
rs145347909
|
0.00055
|
NM_004525.3(LRP2):c.1189A>G (p.Ile397Val)
|
rs140575982
|
0.00055
|
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)
|
rs142499054
|
0.00055
|
NM_015160.3(PMPCA):c.476G>T (p.Gly159Val)
|
rs143813417
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln)
|
rs142253169
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)
|
rs150576530
|
0.00054
|
NM_007215.4(POLG2):c.466A>G (p.Ile156Val)
|
rs137901677
|
0.00054
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=)
|
rs140719298
|
0.00053
|
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)
|
rs200769097
|
0.00053
|
NM_001083961.2(WDR62):c.4564G>A (p.Gly1522Arg)
|
rs142600079
|
0.00053
|
NM_001292063.2(OTOG):c.2405T>A (p.Leu802Gln)
|
rs144972211
|
0.00053
|
NM_005276.4(GPD1):c.590T>C (p.Val197Ala)
|
rs2232207
|
0.00053
|
NM_005612.5(REST):c.2486A>G (p.Glu829Gly)
|
rs146942863
|
0.00053
|
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys)
|
rs149782549
|
0.00053
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00053
|
NM_000032.5(ALAS2):c.653G>A (p.Arg218His)
|
rs185504937
|
0.00052
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
|
rs142580756
|
0.00052
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser)
|
rs139070796
|
0.00052
|
NM_001286577.2(C2CD3):c.6251C>G (p.Thr2084Ser)
|
rs562313391
|
0.00052
|
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)
|
rs200160858
|
0.00052
|
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)
|
rs376513000
|
0.00052
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)
|
rs201971987
|
0.00052
|
NM_014332.3(SMPX):c.132G>A (p.Glu44=)
|
rs199907508
|
0.00052
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu)
|
rs145114751
|
0.00052
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
NM_000124.4(ERCC6):c.4095T>A (p.Asn1365Lys)
|
rs150277901
|
0.00051
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp)
|
rs184394342
|
0.00051
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)
|
rs202184174
|
0.00051
|
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser)
|
rs543999548
|
0.00051
|
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met)
|
rs542442173
|
0.00051
|
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)
|
rs202227084
|
0.00051
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser)
|
rs374634079
|
0.00051
|
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)
|
rs199861496
|
0.00051
|
NM_001852.4(COL9A2):c.335T>G (p.Leu112Arg)
|
rs143008970
|
0.00051
|
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)
|
rs77937237
|
0.00051
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)
|
rs35334949
|
0.00051
|
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)
|
rs77170608
|
0.00051
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
NM_032620.4(GTPBP3):c.614A>G (p.Tyr205Cys)
|
rs149839355
|
0.00051
|
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)
|
rs141706561
|
0.00051
|
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)
|
rs144129296
|
0.00051
|
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)
|
rs146522169
|
0.00051
|
NM_145691.4(ATPAF2):c.111C>T (p.Ala37=)
|
rs34738009
|
0.00051
|
NM_145691.4(ATPAF2):c.805G>A (p.Gly269Ser)
|
rs142604577
|
0.00051
|
NM_000041.4(APOE):c.761T>A (p.Val254Glu)
|
rs199768005
|
0.00050
|
NM_000069.3(CACNA1S):c.-4A>G
|
rs200408018
|
0.00050
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_001084.5(PLOD3):c.335A>G (p.Asp112Gly)
|
rs200949505
|
0.00050
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
NM_001202.6(BMP4):c.345C>T (p.Asn115=)
|
rs143687498
|
0.00050
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_002335.4(LRP5):c.1032G>C (p.Leu344=)
|
rs143499301
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp)
|
rs151299406
|
0.00050
|
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser)
|
rs61995923
|
0.00050
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn)
|
rs200892634
|
0.00050
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)
|
rs200221425
|
0.00049
|
NM_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00049
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
NM_001039141.3(TRIOBP):c.2835C>G (p.Asp945Glu)
|
rs200608722
|
0.00048
|
NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His)
|
rs73532636
|
0.00048
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser)
|
rs72657342
|
0.00048
|
NM_001291303.3(FAT4):c.12342C>G (p.Ile4114Met)
|
rs150804471
|
0.00048
|
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)
|
rs145835705
|
0.00048
|
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly)
|
rs545257884
|
0.00048
|
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp)
|
rs559512010
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg)
|
rs141698427
|
0.00048
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_002335.4(LRP5):c.4256A>G (p.Asn1419Ser)
|
rs145750689
|
0.00048
|
NM_004046.6(ATP5F1A):c.416A>G (p.Asp139Gly)
|
rs148515768
|
0.00048
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)
|
rs199641113
|
0.00048
|
NM_005886.3(KATNB1):c.1110C>T (p.Arg370=)
|
rs146443074
|
0.00048
|
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)
|
rs144978857
|
0.00048
|
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln)
|
rs141941157
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_033004.4(NLRP1):c.2009C>T (p.Thr670Ile)
|
rs61753139
|
0.00048
|
NM_033004.4(NLRP1):c.2056A>G (p.Met686Val)
|
rs61753138
|
0.00048
|
NM_000173.7(GP1BA):c.1232C>T (p.Pro411Leu)
|
rs139921368
|
0.00047
|
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=)
|
rs191213592
|
0.00047
|
NM_000843.4(GRM6):c.1943C>T (p.Ala648Val)
|
rs61733863
|
0.00047
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
|
rs147630375
|
0.00047
|
NM_001042545.2(LTBP4):c.3550C>T (p.Arg1184Trp)
|
rs34051360
|
0.00047
|
NM_001291303.3(FAT4):c.4199G>A (p.Arg1400His)
|
rs376791829
|
0.00047
|
NM_001365276.2(TNXB):c.5938G>A (p.Ala1980Thr)
|
rs148556332
|
0.00047
|
NM_001370595.2(COA8):c.192C>T (p.Asn64=)
|
rs200801272
|
0.00047
|
NM_002296.4(LBR):c.1057C>T (p.Arg353Trp)
|
rs138731836
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)
|
rs147854826
|
0.00047
|
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)
|
rs61749475
|
0.00047
|
NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)
|
rs61065977
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
0.00046
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00046
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu)
|
rs200290031
|
0.00046
|
NM_002335.4(LRP5):c.2829G>A (p.Pro943=)
|
rs201018263
|
0.00046
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)
|
rs200062851
|
0.00046
|
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)
|
rs200843771
|
0.00046
|
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro)
|
rs201826872
|
0.00046
|
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)
|
rs60734921
|
0.00046
|
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)
|
rs181731943
|
0.00046
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00046
|
NM_183357.3(ADCY5):c.818T>C (p.Val273Ala)
|
rs141412542
|
0.00046
|
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe)
|
rs138656755
|
0.00046
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
NM_000124.4(ERCC6):c.4144G>A (p.Gly1382Arg)
|
rs4253228
|
0.00045
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00045
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
NM_001292063.2(OTOG):c.94+75G>T
|
rs550807341
|
0.00045
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His)
|
rs146513976
|
0.00045
|
NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr)
|
rs754779853
|
0.00045
|
NM_001367624.2(ZNF469):c.8695G>A (p.Gly2899Ser)
|
rs202129382
|
0.00045
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)
|
rs146875699
|
0.00045
|
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)
|
rs142631483
|
0.00045
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
NM_006891.4(CRYGD):c.264C>G (p.His88Gln)
|
rs75156162
|
0.00045
|
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
0.00045
|
NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys)
|
rs142182789
|
0.00045
|
NM_014336.5(AIPL1):c.627G>A (p.Arg209=)
|
rs142319505
|
0.00045
|
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)
|
rs141011840
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=)
|
rs183834387
|
0.00045
|
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)
|
rs376811907
|
0.00045
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_138395.4(MARS2):c.43G>A (p.Ala15Thr)
|
rs145171191
|
0.00045
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile)
|
rs199497561
|
0.00044
|
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met)
|
rs371432372
|
0.00044
|
NM_001378778.1(MPDZ):c.2537C>G (p.Ser846Cys)
|
rs200553028
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp)
|
rs139537086
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_005357.4(LIPE):c.998G>A (p.Arg333Gln)
|
rs112497256
|
0.00044
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00044
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
NM_198999.3(SLC26A5):c.2177C>T (p.Ala726Val)
|
rs150726851
|
0.00044
|
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)
|
rs114009747
|
0.00043
|
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser)
|
rs145301300
|
0.00043
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)
|
rs537312655
|
0.00043
|
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)
|
rs150355046
|
0.00043
|
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met)
|
rs138774384
|
0.00043
|
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)
|
rs575820215
|
0.00043
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr)
|
rs146903539
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr)
|
rs138488088
|
0.00043
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)
|
rs201685063
|
0.00042
|
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)
|
rs201037895
|
0.00042
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
NM_001457.4(FLNB):c.7510G>A (p.Ala2504Thr)
|
rs148364272
|
0.00042
|
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)
|
rs375861433
|
0.00042
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
NM_014915.3(ANKRD26):c.4916G>A (p.Arg1639Gln)
|
rs184369322
|
0.00042
|
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)
|
rs199842745
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly)
|
rs56089364
|
0.00041
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val)
|
rs139976441
|
0.00041
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)
|
rs148170326
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro)
|
rs372241056
|
0.00041
|
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln)
|
rs192467838
|
0.00041
|
NM_002335.4(LRP5):c.2182A>T (p.Met728Leu)
|
rs149241739
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro)
|
rs149827415
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
NM_006231.4(POLE):c.3881G>A (p.Arg1294His)
|
rs115455318
|
0.00041
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
NM_007055.4(POLR3A):c.1910-13A>G
|
rs375882550
|
0.00041
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_014704.4(CEP104):c.2621G>A (p.Arg874His)
|
rs139076247
|
0.00041
|
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val)
|
rs56261037
|
0.00041
|
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter)
|
rs769917929
|
0.00041
|
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp)
|
rs151245897
|
0.00041
|
NM_020312.4(COQ9):c.26C>T (p.Ala9Val)
|
rs536567108
|
0.00041
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn)
|
rs199895244
|
0.00041
|
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)
|
rs140757802
|
0.00041
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly)
|
rs187140236
|
0.00041
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
NM_000029.4(AGT):c.127C>T (p.Leu43Phe)
|
rs41271499
|
0.00040
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)
|
rs144659635
|
0.00040
|
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr)
|
rs144120866
|
0.00040
|
NM_001291303.3(FAT4):c.13460C>T (p.Ala4487Val)
|
rs141234678
|
0.00040
|
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp)
|
rs200215464
|
0.00040
|
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)
|
rs200239326
|
0.00040
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_016213.5(TRIP4):c.1165C>T (p.Pro389Ser)
|
rs144077712
|
0.00040
|
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00040
|
NM_053025.4(MYLK):c.3653-10_3653-8del
|
rs576620371
|
0.00040
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr)
|
rs200201418
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001367624.2(ZNF469):c.2168G>C (p.Ser723Thr)
|
rs777747160
|
0.00039
|
NM_001367624.2(ZNF469):c.3278A>G (p.Asp1093Gly)
|
rs533979613
|
0.00039
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His)
|
rs142328549
|
0.00039
|
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu)
|
rs201475647
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)
|
rs550975729
|
0.00039
|
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)
|
rs183061595
|
0.00039
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His)
|
rs200141555
|
0.00039
|
NM_022124.6(CDH23):c.2163C>T (p.Ile721=)
|
rs192326086
|
0.00039
|
NM_152393.4(KLHL40):c.238G>C (p.Asp80His)
|
rs144461124
|
0.00039
|
NM_178554.6(KY):c.988C>T (p.Pro330Ser)
|
rs201201519
|
0.00039
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)
|
rs56394801
|
0.00038
|
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)
|
rs150166497
|
0.00038
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)
|
rs200283315
|
0.00038
|
NM_001199799.2(ILDR1):c.686T>C (p.Leu229Pro)
|
rs546168333
|
0.00038
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp)
|
rs114613744
|
0.00038
|
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly)
|
rs145373149
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_006514.4(SCN10A):c.55G>A (p.Glu19Lys)
|
rs141810266
|
0.00038
|
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)
|
rs41298474
|
0.00038
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_020442.6(VARS2):c.2980A>G (p.Ile994Val)
|
rs201758263
|
0.00038
|
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)
|
rs34122078
|
0.00038
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)
|
rs144995033
|
0.00037
|
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
|
rs201515738
|
0.00037
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)
|
rs144966407
|
0.00037
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)
|
rs150306543
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu)
|
rs747464249
|
0.00037
|
NM_020884.7(MYH7B):c.3440C>T (p.Ala1147Val)
|
rs374221267
|
0.00037
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys)
|
rs143183215
|
0.00037
|
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr)
|
rs142196906
|
0.00037
|
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)
|
rs143709408
|
0.00036
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817
|
0.00036
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile)
|
rs200359303
|
0.00036
|
NM_000384.3(APOB):c.4187T>C (p.Val1396Ala)
|
rs144034290
|
0.00036
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val)
|
rs147517227
|
0.00036
|
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
|
rs115066564
|
0.00036
|
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)
|
rs144474773
|
0.00036
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
0.00036
|
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg)
|
rs200506892
|
0.00036
|
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)
|
rs78895258
|
0.00036
|
NM_001291303.3(FAT4):c.12066C>T (p.Gly4022=)
|
rs144476127
|
0.00036
|
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val)
|
rs113139501
|
0.00036
|
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile)
|
rs372195299
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val)
|
rs540371915
|
0.00036
|
NM_001754.5(RUNX1):c.698G>A (p.Arg233His)
|
rs150042294
|
0.00036
|
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)
|
rs149558726
|
0.00036
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_005199.5(CHRNG):c.507-12G>A
|
rs184423691
|
0.00036
|
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)
|
rs199749212
|
0.00036
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
|
rs201913959
|
0.00036
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00036
|
NM_017654.4(SAMD9):c.4673T>A (p.Leu1558Ter)
|
rs150862618
|
0.00036
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
|
rs149034301
|
0.00036
|
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)
|
rs145825553
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met)
|
rs200191563
|
0.00036
|
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp)
|
rs373680242
|
0.00036
|
NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser)
|
rs139348197
|
0.00036
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile)
|
rs121912539
|
0.00035
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_001291303.3(FAT4):c.5552C>T (p.Pro1851Leu)
|
rs138655912
|
0.00035
|
NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg)
|
rs201902411
|
0.00035
|
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)
|
rs139859950
|
0.00035
|
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)
|
rs142816010
|
0.00035
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys)
|
rs138847501
|
0.00035
|
NM_005245.4(FAT1):c.10930G>A (p.Ala3644Thr)
|
rs199663111
|
0.00035
|
NM_007374.3(SIX6):c.637C>T (p.Pro213Ser)
|
rs201560655
|
0.00035
|
NM_014915.3(ANKRD26):c.2855A>C (p.Lys952Thr)
|
rs564448342
|
0.00035
|
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser)
|
rs368290474
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)
|
rs36086547
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_194248.3(OTOF):c.898-6C>G
|
rs199687628
|
0.00035
|
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=)
|
rs151020094
|
0.00035
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000384.3(APOB):c.11720A>G (p.Asp3907Gly)
|
rs61746686
|
0.00034
|
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)
|
rs149529997
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His)
|
rs199887429
|
0.00034
|
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)
|
rs41276445
|
0.00034
|
NM_001145809.2(MYH14):c.2233-13C>A
|
rs368249273
|
0.00034
|
NM_001291303.3(FAT4):c.10570C>T (p.Arg3524Trp)
|
rs145569482
|
0.00034
|
NM_001291303.3(FAT4):c.5054G>A (p.Arg1685Gln)
|
rs376422522
|
0.00034
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)
|
rs199945338
|
0.00034
|
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)
|
rs140223281
|
0.00034
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_004092.4(ECHS1):c.519G>A (p.Ala173=)
|
rs140262395
|
0.00034
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
NM_014208.3(DSPP):c.85G>A (p.Glu29Lys)
|
rs200641947
|
0.00034
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln)
|
rs140373332
|
0.00034
|
NM_018942.3(HMX1):c.964G>C (p.Gly322Arg)
|
rs763505877
|
0.00034
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00034
|
NM_024996.7(GFM1):c.2143A>G (p.Met715Val)
|
rs147620098
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_032620.4(GTPBP3):c.565C>T (p.Arg189Cys)
|
rs141865220
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser)
|
rs201629800
|
0.00033
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_001291303.3(FAT4):c.4432A>C (p.Ile1478Leu)
|
rs200565115
|
0.00033
|
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met)
|
rs141773516
|
0.00033
|
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)
|
rs547173007
|
0.00033
|
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val)
|
rs114417076
|
0.00033
|
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
|
rs185469456
|
0.00033
|
NM_002336.3(LRP6):c.3380A>G (p.Glu1127Gly)
|
rs560813860
|
0.00033
|
NM_002427.4(MMP13):c.509A>C (p.Lys170Thr)
|
rs145243532
|
0.00033
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)
|
rs202192818
|
0.00033
|
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln)
|
rs201955990
|
0.00033
|
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521
|
0.00033
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00033
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)
|
rs146661281
|
0.00033
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_177402.5(SYT2):c.71T>C (p.Ile24Thr)
|
rs199582045
|
0.00033
|
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser)
|
rs200496467
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)
|
rs200758965
|
0.00032
|
NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp)
|
rs543285355
|
0.00032
|
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
0.00032
|
NM_001367624.2(ZNF469):c.7321C>T (p.Pro2441Ser)
|
rs546137802
|
0.00032
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)
|
rs377716628
|
0.00032
|
NM_002473.6(MYH9):c.3943-7C>A
|
rs376396278
|
0.00032
|
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)
|
rs147316959
|
0.00032
|
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)
|
rs147657490
|
0.00032
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)
|
rs141233896
|
0.00032
|
NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile)
|
rs151303346
|
0.00032
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp)
|
rs138435584
|
0.00032
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
NM_016343.4(CENPF):c.2595A>C (p.Glu865Asp)
|
rs142993088
|
0.00032
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_032380.5(GFM2):c.2213G>A (p.Gly738Asp)
|
rs139901493
|
0.00032
|
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
|
rs149866482
|
0.00032
|
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)
|
rs146206499
|
0.00031
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00031
|
NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu)
|
rs144043939
|
0.00031
|
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00031
|
NM_001013693.3(LDLRAD2):c.*1278C>T
|
rs376645617
|
0.00031
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)
|
rs142067039
|
0.00031
|
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe)
|
rs147945181
|
0.00031
|
NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg)
|
rs749257673
|
0.00031
|
NM_001457.4(FLNB):c.4903G>A (p.Gly1635Ser)
|
rs139046903
|
0.00031
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)
|
rs138583508
|
0.00031
|
NM_001853.4(COL9A3):c.779C>T (p.Ala260Val)
|
rs147134081
|
0.00031
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00031
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe)
|
rs201094018
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
NM_004970.3(IGFALS):c.634G>A (p.Ala212Thr)
|
rs368097770
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)
|
rs141758463
|
0.00031
|
NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr)
|
rs145900411
|
0.00031
|
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)
|
rs148065361
|
0.00031
|
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr)
|
rs144078604
|
0.00031
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
NM_014915.3(ANKRD26):c.599A>G (p.Lys200Arg)
|
rs150623081
|
0.00031
|
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)
|
rs147587391
|
0.00031
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr)
|
rs192469262
|
0.00031
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)
|
rs149775261
|
0.00031
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_001039141.3(TRIOBP):c.5274G>A (p.Thr1758=)
|
rs370386947
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001291303.3(FAT4):c.6731C>T (p.Thr2244Met)
|
rs145342353
|
0.00030
|
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)
|
rs139480042
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp)
|
rs145712124
|
0.00030
|
NM_138477.4(CDAN1):c.3204+5G>A
|
rs201125492
|
0.00030
|
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)
|
rs143068551
|
0.00030
|
NM_182943.3(PLOD2):c.1744-11A>G
|
rs376704588
|
0.00030
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
NM_194248.3(OTOF):c.1135G>A (p.Val379Met)
|
rs141111646
|
0.00030
|
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)
|
rs371290504
|
0.00030
|
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser)
|
rs144561715
|
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_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)
|
rs75086141
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
|
rs139250920
|
0.00029
|
NM_000384.3(APOB):c.914A>G (p.Lys305Arg)
|
rs199937544
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)
|
rs200865354
|
0.00029
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys)
|
rs377096949
|
0.00029
|
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys)
|
rs187789045
|
0.00029
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)
|
rs149043752
|
0.00029
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)
|
rs28989183
|
0.00029
|
NM_001242957.3(MAK):c.1819C>T (p.Arg607Trp)
|
rs199594233
|
0.00029
|
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)
|
rs138946894
|
0.00029
|
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)
|
rs77086616
|
0.00029
|
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala)
|
rs770039471
|
0.00029
|
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)
|
rs757999676
|
0.00029
|
NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr)
|
rs138639220
|
0.00029
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys)
|
rs141825151
|
0.00029
|
NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu)
|
rs138648117
|
0.00029
|
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)
|
rs144571463
|
0.00029
|
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)
|
rs2302172
|
0.00029
|
NM_002691.4(POLD1):c.3219-19C>A
|
rs374168125
|
0.00029
|
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)
|
rs201392536
|
0.00029
|
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp)
|
rs193024188
|
0.00029
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
0.00029
|
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)
|
rs147675550
|
0.00029
|
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)
|
rs143274889
|
0.00029
|
NM_005993.5(TBCD):c.2638A>T (p.Met880Leu)
|
rs199972447
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_006059.4(LAMC3):c.4415G>A (p.Arg1472Gln)
|
rs137894550
|
0.00029
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
NM_014208.3(DSPP):c.777T>C (p.Ser259=)
|
rs377300383
|
0.00029
|
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu)
|
rs993096170
|
0.00029
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)
|
rs201620755
|
0.00029
|
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys)
|
rs137966123
|
0.00029
|
NM_022114.4(PRDM16):c.2281G>A (p.Ala761Thr)
|
rs200947814
|
0.00029
|
NM_022458.4(LMBR1):c.423+4545T>C
|
rs376183960
|
0.00029
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe)
|
rs142840568
|
0.00029
|
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala)
|
rs200821440
|
0.00029
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_000233.4(LHCGR):c.561A>G (p.Glu187=)
|
rs369601921
|
0.00028
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys)
|
rs145133167
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His)
|
rs140346737
|
0.00028
|
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)
|
rs780953179
|
0.00028
|
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val)
|
rs150488571
|
0.00028
|
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr)
|
rs144011305
|
0.00028
|
NM_001374504.1(TMPRSS6):c.361C>T (p.Arg121Cys)
|
rs145073875
|
0.00028
|
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)
|
rs138503916
|
0.00028
|
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro)
|
rs145821912
|
0.00028
|
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met)
|
rs200819607
|
0.00028
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_006420.3(ARFGEF2):c.2686-16C>A
|
rs370562126
|
0.00028
|
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)
|
rs764407421
|
0.00028
|
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)
|
rs145817936
|
0.00028
|
NM_007215.4(POLG2):c.590T>C (p.Leu197Pro)
|
rs139282177
|
0.00028
|
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn)
|
rs368603235
|
0.00028
|
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg)
|
rs143892088
|
0.00028
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)
|
rs142909885
|
0.00028
|
NM_206933.4(USH2A):c.5131G>A (p.Ala1711Thr)
|
rs535796173
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)
|
rs199535970
|
0.00027
|
NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
|
rs375200566
|
0.00027
|
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His)
|
rs186299244
|
0.00027
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)
|
rs138438183
|
0.00027
|
NM_001457.4(FLNB):c.6193G>A (p.Val2065Met)
|
rs371167931
|
0.00027
|
NM_001853.4(COL9A3):c.1563C>T (p.Ser521=)
|
rs144292707
|
0.00027
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)
|
rs149569984
|
0.00027
|
NM_004525.3(LRP2):c.10880G>T (p.Ser3627Ile)
|
rs138660534
|
0.00027
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val)
|
rs374356084
|
0.00027
|
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val)
|
rs193178384
|
0.00027
|
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu)
|
rs146075543
|
0.00027
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)
|
rs201610096
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083
|
0.00027
|
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met)
|
rs150280940
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)
|
rs201613668
|
0.00026
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_000539.3(RHO):c.919A>T (p.Ile307Phe)
|
rs771322615
|
0.00026
|
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)
|
rs144651139
|
0.00026
|
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)
|
rs776091285
|
0.00026
|
NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His)
|
rs371440985
|
0.00026
|
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)
|
rs140920120
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001367624.2(ZNF469):c.812T>C (p.Val271Ala)
|
rs985569633
|
0.00026
|
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn)
|
rs371186107
|
0.00026
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)
|
rs200496207
|
0.00026
|
NM_001953.5(TYMP):c.676G>A (p.Gly226Arg)
|
rs200497106
|
0.00026
|
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu)
|
rs200624778
|
0.00026
|
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)
|
rs149560153
|
0.00026
|
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)
|
rs138689221
|
0.00026
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His)
|
rs146467617
|
0.00026
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
NM_005422.4(TECTA):c.3791A>G (p.Asn1264Ser)
|
rs200871280
|
0.00026
|
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met)
|
rs148234507
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
NM_014208.3(DSPP):c.1024G>A (p.Glu342Lys)
|
rs201404949
|
0.00026
|
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro)
|
rs149521185
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_021830.5(TWNK):c.689G>T (p.Gly230Val)
|
rs142978552
|
0.00026
|
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn)
|
rs199895459
|
0.00026
|
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)
|
rs199508694
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)
|
rs202241382
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_032229.3(SLITRK6):c.1055T>C (p.Ile352Thr)
|
rs199516562
|
0.00026
|
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)
|
rs148942084
|
0.00026
|
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr)
|
rs147375807
|
0.00026
|
NM_033343.4(LHX4):c.37G>A (p.Val13Ile)
|
rs146664099
|
0.00026
|
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)
|
rs77946954
|
0.00026
|
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)
|
rs140317494
|
0.00026
|
NM_080680.3(COL11A2):c.1636C>G (p.Arg546Gly)
|
rs149697159
|
0.00026
|
NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly)
|
rs138305560
|
0.00026
|
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)
|
rs570708095
|
0.00026
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
NM_153365.3(TAPT1):c.207A>G (p.Ser69=)
|
rs181652196
|
0.00026
|
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile)
|
rs146047560
|
0.00026
|
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)
|
rs144259658
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)
|
rs121918729
|
0.00025
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg)
|
rs558674954
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)
|
rs140590144
|
0.00025
|
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
|
rs201183725
|
0.00025
|
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)
|
rs150129180
|
0.00025
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)
|
rs144253015
|
0.00025
|
NM_006005.3(WFS1):c.772G>A (p.Val258Ile)
|
rs757414862
|
0.00025
|
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)
|
rs148916790
|
0.00025
|
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
|
rs369339903
|
0.00025
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser)
|
rs41300592
|
0.00025
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
NM_020738.4(KIDINS220):c.1934C>T (p.Thr645Ile)
|
rs185330217
|
0.00025
|
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys)
|
rs148866170
|
0.00025
|
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
|
rs201154290
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)
|
rs148758903
|
0.00025
|
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu)
|
rs150132765
|
0.00025
|
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)
|
rs147392278
|
0.00024
|
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)
|
rs201198284
|
0.00024
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)
|
rs557483957
|
0.00024
|
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)
|
rs115876786
|
0.00024
|
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg)
|
rs149338401
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)
|
rs201034755
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys)
|
rs149470089
|
0.00024
|
NM_001040436.3(YARS2):c.928C>T (p.Pro310Ser)
|
rs199885274
|
0.00024
|
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)
|
rs146482011
|
0.00024
|
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)
|
rs199682341
|
0.00024
|
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)
|
rs199527708
|
0.00024
|
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)
|
rs142853738
|
0.00024
|
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp)
|
rs150698607
|
0.00024
|
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)
|
rs200522966
|
0.00024
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
0.00024
|
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu)
|
rs200797401
|
0.00024
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_002335.4(LRP5):c.1738G>A (p.Val580Ile)
|
rs149524398
|
0.00024
|
NM_002473.6(MYH9):c.2591C>T (p.Ala864Val)
|
rs142467329
|
0.00024
|
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met)
|
rs117497341
|
0.00024
|
NM_003105.6(SORL1):c.4360C>T (p.Pro1454Ser)
|
rs201304369
|
0.00024
|
NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu)
|
rs61735331
|
0.00024
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)
|
rs137860861
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly)
|
rs368705077
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)
|
rs34238319
|
0.00024
|
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)
|
rs199605881
|
0.00024
|
NM_016341.4(PLCE1):c.1295C>G (p.Ala432Gly)
|
rs200380935
|
0.00024
|
NM_017547.4(FOXRED1):c.1252C>G (p.Gln418Glu)
|
rs201261500
|
0.00024
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)
|
rs372367313
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_024407.5(NDUFS7):c.456-16G>A
|
rs370241999
|
0.00024
|
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp)
|
rs202084972
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_032634.4(PIGO):c.794G>A (p.Arg265His)
|
rs200924324
|
0.00024
|
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)
|
rs149071920
|
0.00024
|
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)
|
rs149693840
|
0.00024
|
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
|
rs74315447
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_194248.3(OTOF):c.5083G>A (p.Asp1695Asn)
|
rs144422709
|
0.00024
|
NM_203446.3(SYNJ1):c.2874+5G>A
|
rs371765751
|
0.00024
|
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr)
|
rs188324379
|
0.00023
|
NM_000143.4(FH):c.4T>C (p.Tyr2His)
|
rs112335468
|
0.00023
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln)
|
rs142612379
|
0.00023
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_001148.6(ANK2):c.9424A>C (p.Thr3142Pro)
|
rs374350634
|
0.00023
|
NM_001235.5(SERPINH1):c.293G>A (p.Ser98Asn)
|
rs541595707
|
0.00023
|
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr)
|
rs145733370
|
0.00023
|
NM_001291303.3(FAT4):c.7196T>C (p.Ile2399Thr)
|
rs140285782
|
0.00023
|
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro)
|
rs778687487
|
0.00023
|
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val)
|
rs188477537
|
0.00023
|
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg)
|
rs373359869
|
0.00023
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
|
rs527738649
|
0.00023
|
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)
|
rs200450866
|
0.00023
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
NM_006231.4(POLE):c.761C>T (p.Pro254Leu)
|
rs200211438
|
0.00023
|
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)
|
rs138437422
|
0.00023
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
NM_017654.4(SAMD9):c.1880del (p.Ser627fs)
|
rs767270627
|
0.00023
|
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile)
|
rs145272328
|
0.00023
|
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg)
|
rs145983200
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_024996.7(GFM1):c.373G>A (p.Val125Met)
|
rs200923387
|
0.00023
|
NM_052867.4(NALCN):c.722C>T (p.Pro241Leu)
|
rs764444847
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val)
|
rs112913957
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)
|
rs144366005
|
0.00023
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_000143.4(FH):c.1237-7C>T
|
rs376260223
|
0.00022
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)
|
rs185748200
|
0.00022
|
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)
|
rs150038701
|
0.00022
|
NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser)
|
rs184910238
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile)
|
rs545321215
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)
|
rs183839621
|
0.00022
|
NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln)
|
rs201843717
|
0.00022
|
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)
|
rs773943113
|
0.00022
|
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met)
|
rs2276742
|
0.00022
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)
|
rs150446804
|
0.00022
|
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
|
rs201193346
|
0.00022
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
NM_002887.4(RARS1):c.1465G>A (p.Glu489Lys)
|
rs11557638
|
0.00022
|
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)
|
rs786205841
|
0.00022
|
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met)
|
rs139158022
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu)
|
rs546499094
|
0.00022
|
NM_006514.4(SCN10A):c.1163T>C (p.Leu388Pro)
|
rs199734710
|
0.00022
|
NM_006514.4(SCN10A):c.1370A>G (p.Glu457Gly)
|
rs766017851
|
0.00022
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
NM_014000.3(VCL):c.787A>T (p.Thr263Ser)
|
rs142233726
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu)
|
rs143155251
|
0.00022
|
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)
|
rs201299216
|
0.00022
|
NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu)
|
rs141531245
|
0.00022
|
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys)
|
rs149335528
|
0.00022
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr)
|
rs141698221
|
0.00022
|
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp)
|
rs200189331
|
0.00022
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
0.00022
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln)
|
rs142157418
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_054027.6(ANKH):c.1042G>A (p.Val348Met)
|
rs148228793
|
0.00022
|
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)
|
rs200243596
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln)
|
rs187147906
|
0.00022
|
NM_170682.4(P2RX2):c.381+2T>C
|
rs200978001
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)
|
rs200765341
|
0.00021
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
NM_000179.3(MSH6):c.*49_*68dup
|
rs777409019
|
0.00021
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00021
|
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)
|
rs199473192
|
0.00021
|
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)
|
rs201736972
|
0.00021
|
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys)
|
rs201591982
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val)
|
rs199938988
|
0.00021
|
NM_001042545.2(LTBP4):c.3610G>A (p.Val1204Met)
|
rs200036888
|
0.00021
|
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
NM_001184.4(ATR):c.483A>G (p.Arg161=)
|
rs182268224
|
0.00021
|
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)
|
rs150748757
|
0.00021
|
NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr)
|
rs183191959
|
0.00021
|
NM_001367624.2(ZNF469):c.9850G>A (p.Gly3284Arg)
|
rs773064083
|
0.00021
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
NM_001384732.1(CPLANE1):c.3131G>A (p.Arg1044His)
|
rs779754977
|
0.00021
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00021
|
NM_001853.4(COL9A3):c.1708T>C (p.Ser570Pro)
|
rs199886210
|
0.00021
|
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)
|
rs367824632
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_001953.5(TYMP):c.1176C>T (p.Val392=)
|
rs770533125
|
0.00021
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
|
rs199783239
|
0.00021
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
NM_004525.3(LRP2):c.230A>T (p.Glu77Val)
|
rs200113428
|
0.00021
|
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr)
|
rs142266106
|
0.00021
|
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=)
|
rs140887831
|
0.00021
|
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)
|
rs141616288
|
0.00021
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
NM_006383.4(CIB2):c.366C>T (p.Phe122=)
|
rs374836619
|
0.00021
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
NM_006514.4(SCN10A):c.4552G>A (p.Val1518Ile)
|
rs202040659
|
0.00021
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
NM_007208.4(MRPL3):c.985C>T (p.Pro329Ser)
|
rs145183319
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=)
|
rs201026034
|
0.00021
|
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln)
|
rs761180573
|
0.00021
|
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys)
|
rs144208673
|
0.00021
|
NM_017654.4(SAMD9):c.4417C>T (p.Arg1473Cys)
|
rs145665736
|
0.00021
|
NM_017662.5(TRPM6):c.499G>T (p.Ala167Ser)
|
rs141014694
|
0.00021
|
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)
|
rs146897650
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
NM_022124.6(CDH23):c.551G>A (p.Arg184His)
|
rs201132251
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys)
|
rs144343899
|
0.00021
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
NM_032578.4(MYPN):c.952G>A (p.Val318Ile)
|
rs112518450
|
0.00021
|
NM_052867.4(NALCN):c.3058-11A>G
|
rs201506269
|
0.00021
|
NM_078470.6(COX15):c.664C>T (p.Arg222Cys)
|
rs2231682
|
0.00021
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00021
|
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)
|
rs200831684
|
0.00021
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser)
|
rs141020107
|
0.00021
|
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu)
|
rs149979176
|
0.00021
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00020
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser)
|
rs138758064
|
0.00020
|
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg)
|
rs139707740
|
0.00020
|
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)
|
rs199472781
|
0.00020
|
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr)
|
rs200261177
|
0.00020
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
NM_001080442.3(SLC38A8):c.389-9C>G
|
rs376444481
|
0.00020
|
NM_001097577.3(ANG):c.3G>A (p.Met1Ile)
|
rs201068740
|
0.00020
|
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)
|
rs397516733
|
0.00020
|
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=)
|
rs375542454
|
0.00020
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)
|
rs142510905
|
0.00020
|
NM_001286577.2(C2CD3):c.2663G>A (p.Arg888Gln)
|
rs143196767
|
0.00020
|
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)
|
rs201859188
|
0.00020
|
NM_001292063.2(OTOG):c.3751G>A (p.Gly1251Ser)
|
rs769211682
|
0.00020
|
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe)
|
rs371080525
|
0.00020
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)
|
rs377360750
|
0.00020
|
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser)
|
rs188528174
|
0.00020
|
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)
|
rs144860423
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)
|
rs140776586
|
0.00020
|
NM_005422.4(TECTA):c.2544G>A (p.Leu848=)
|
rs144582229
|
0.00020
|
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)
|
rs28903093
|
0.00020
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp)
|
rs142378119
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)
|
rs200781310
|
0.00020
|
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln)
|
rs141903506
|
0.00020
|
NM_017757.3(ZNF407):c.4010A>G (p.Tyr1337Cys)
|
rs760492866
|
0.00020
|
NM_018685.5(ANLN):c.1545G>A (p.Thr515=)
|
rs139579665
|
0.00020
|
NM_020754.4(ARHGAP31):c.3463T>C (p.Trp1155Arg)
|
rs369750406
|
0.00020
|
NM_020937.4(FANCM):c.2267G>A (p.Arg756His)
|
rs142763060
|
0.00020
|
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)
|
rs186990940
|
0.00020
|
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)
|
rs147732725
|
0.00020
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His)
|
rs58559150
|
0.00020
|
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys)
|
rs200576852
|
0.00020
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000069.3(CACNA1S):c.3256-12T>A
|
rs374335683
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
NM_000260.4(MYO7A):c.3955G>A (p.Val1319Ile)
|
rs200483708
|
0.00019
|
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys)
|
rs781922871
|
0.00019
|
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser)
|
rs376348438
|
0.00019
|
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)
|
rs148066812
|
0.00019
|
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)
|
rs142702699
|
0.00019
|
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)
|
rs146247063
|
0.00019
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu)
|
rs200124278
|
0.00019
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val)
|
rs368433841
|
0.00019
|
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val)
|
rs376790408
|
0.00019
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_001042545.2(LTBP4):c.2239G>A (p.Gly747Ser)
|
rs371314855
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)
|
rs142534126
|
0.00019
|
NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn)
|
rs140341680
|
0.00019
|
NM_001148.6(ANK2):c.8463C>A (p.Asp2821Glu)
|
rs780668435
|
0.00019
|
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr)
|
rs374200686
|
0.00019
|
NM_001206999.2(CIT):c.232C>T (p.Arg78Trp)
|
rs186505065
|
0.00019
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His)
|
rs137914057
|
0.00019
|
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro)
|
rs876657936
|
0.00019
|
NM_001352754.2(ARMC9):c.1964C>T (p.Thr655Ile)
|
rs202164814
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_001367624.2(ZNF469):c.5449C>G (p.Leu1817Val)
|
rs559099409
|
0.00019
|
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys)
|
rs528085780
|
0.00019
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)
|
rs1455234951
|
0.00019
|
NM_001378183.1(PIEZO2):c.1240-5G>A
|
rs373971761
|
0.00019
|
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His)
|
rs373973800
|
0.00019
|
NM_001378183.1(PIEZO2):c.947C>A (p.Thr316Lys)
|
rs374993280
|
0.00019
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
|
rs201028172
|
0.00019
|
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)
|
rs192863498
|
0.00019
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn)
|
rs202156673
|
0.00019
|
NM_001378609.3(OTOGL):c.3786C>G (p.Phe1262Leu)
|
rs199807709
|
0.00019
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val)
|
rs200930248
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met)
|
rs147559634
|
0.00019
|
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)
|
rs143206624
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln)
|
rs148530368
|
0.00019
|
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala)
|
rs150354113
|
0.00019
|
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys)
|
rs368211314
|
0.00019
|
NM_004174.4(SLC9A3):c.755-11C>T
|
rs139270058
|
0.00019
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
NM_004525.3(LRP2):c.12958A>G (p.Ile4320Val)
|
rs141452561
|
0.00019
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)
|
rs34574788
|
0.00019
|
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=)
|
rs145033378
|
0.00019
|
NM_004621.6(TRPC6):c.75C>T (p.Arg25=)
|
rs201051533
|
0.00019
|
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met)
|
rs371606894
|
0.00019
|
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=)
|
rs141675065
|
0.00019
|
NM_006005.3(WFS1):c.1695C>T (p.Leu565=)
|
rs755736687
|
0.00019
|
NM_006514.4(SCN10A):c.1118A>G (p.Tyr373Cys)
|
rs147835034
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)
|
rs150266349
|
0.00019
|
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp)
|
rs144805659
|
0.00019
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg)
|
rs148763371
|
0.00019
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile)
|
rs554675480
|
0.00019
|
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)
|
rs140202346
|
0.00019
|
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter)
|
rs151039691
|
0.00019
|
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu)
|
rs200540710
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_152464.3(TMEM199):c.36G>A (p.Val12=)
|
rs781939580
|
0.00019
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)
|
rs202152674
|
0.00019
|
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)
|
rs143208990
|
0.00019
|
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)
|
rs144768593
|
0.00019
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly)
|
rs143040168
|
0.00018
|
NM_000143.4(FH):c.883G>A (p.Ala295Thr)
|
rs145843819
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
|
rs201392574
|
0.00018
|
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn)
|
rs142646143
|
0.00018
|
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)
|
rs150345121
|
0.00018
|
NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys)
|
rs200524407
|
0.00018
|
NM_001148.6(ANK2):c.8116G>C (p.Glu2706Gln)
|
rs142652341
|
0.00018
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=)
|
rs143562140
|
0.00018
|
NM_001292063.2(OTOG):c.93C>T (p.Leu31=)
|
rs776961395
|
0.00018
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys)
|
rs141555457
|
0.00018
|
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser)
|
rs201678207
|
0.00018
|
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)
|
rs145159429
|
0.00018
|
NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)
|
rs139920081
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_003235.5(TG):c.4638C>T (p.Gly1546=)
|
rs116663504
|
0.00018
|
NM_004517.4(ILK):c.707A>G (p.Asn236Ser)
|
rs145571020
|
0.00018
|
NM_004655.4(AXIN2):c.1829G>A (p.Arg610Gln)
|
rs376248072
|
0.00018
|
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
|
rs149862950
|
0.00018
|
NM_006059.4(LAMC3):c.2390C>T (p.Pro797Leu)
|
rs150965854
|
0.00018
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
NM_016360.4(TACO1):c.451G>A (p.Glu151Lys)
|
rs139687237
|
0.00018
|
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala)
|
rs144659242
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_021252.5(RAB18):c.148A>G (p.Ile50Val)
|
rs148786103
|
0.00018
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr)
|
rs148834015
|
0.00018
|
NM_176787.5(PIGN):c.253A>G (p.Ile85Val)
|
rs202066215
|
0.00018
|
NM_177438.3(DICER1):c.4819C>T (p.Arg1607Trp)
|
rs189119295
|
0.00018
|
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)
|
rs138344683
|
0.00018
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)
|
rs576536458
|
0.00017
|
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
|
rs41317144
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)
|
rs369678002
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)
|
rs142454198
|
0.00017
|
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)
|
rs201008196
|
0.00017
|
NM_001142784.3(IL11RA):c.344G>A (p.Arg115His)
|
rs201997285
|
0.00017
|
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)
|
rs35960628
|
0.00017
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
NM_001289104.2(PRKCSH):c.1559C>T (p.Pro520Leu)
|
rs139214550
|
0.00017
|
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)
|
rs200344386
|
0.00017
|
NM_001377299.1(NDUFS2):c.600C>T (p.Phe200=)
|
rs138185030
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)
|
rs183021118
|
0.00017
|
NM_001384732.1(CPLANE1):c.7559A>G (p.His2520Arg)
|
rs369951498
|
0.00017
|
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser)
|
rs377198201
|
0.00017
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val)
|
rs145749221
|
0.00017
|
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
|
rs147964932
|
0.00017
|
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala)
|
rs142978180
|
0.00017
|
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)
|
rs146684391
|
0.00017
|
NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)
|
rs202213533
|
0.00017
|
NM_004999.4(MYO6):c.262-12T>G
|
rs368072756
|
0.00017
|
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)
|
rs56103026
|
0.00017
|
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)
|
rs116034780
|
0.00017
|
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val)
|
rs759136937
|
0.00017
|
NM_006059.4(LAMC3):c.2468A>G (p.Asn823Ser)
|
rs140325029
|
0.00017
|
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys)
|
rs200645452
|
0.00017
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)
|
rs143212851
|
0.00017
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr)
|
rs932191004
|
0.00017
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
NM_022042.4(SLC26A1):c.197G>A (p.Arg66Gln)
|
rs201219683
|
0.00017
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
NM_024598.4(USB1):c.512T>C (p.Ile171Thr)
|
rs149725439
|
0.00017
|
NM_025074.7(FRAS1):c.10234C>T (p.Arg3412Cys)
|
rs187826477
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00017
|
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
|
rs200541858
|
0.00017
|
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)
|
rs34415548
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met)
|
rs372801738
|
0.00017
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)
|
rs528563981
|
0.00016
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00016
|
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)
|
rs373291490
|
0.00016
|
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)
|
rs148686474
|
0.00016
|
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
|
rs200450557
|
0.00016
|
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser)
|
rs141763734
|
0.00016
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)
|
rs116403115
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)
|
rs539080792
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_001148.6(ANK2):c.9682G>A (p.Val3228Met)
|
rs141013157
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu)
|
rs542646349
|
0.00016
|
NM_001303.4(COX10):c.311C>T (p.Pro104Leu)
|
rs202207627
|
0.00016
|
NM_001367624.2(ZNF469):c.4571T>G (p.Leu1524Arg)
|
rs111916311
|
0.00016
|
NM_001367624.2(ZNF469):c.8252C>T (p.Ser2751Leu)
|
rs376638940
|
0.00016
|
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)
|
rs376608392
|
0.00016
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val)
|
rs370679299
|
0.00016
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_001851.6(COL9A1):c.80G>A (p.Arg27His)
|
rs150026024
|
0.00016
|
NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln)
|
rs140377811
|
0.00016
|
NM_001853.4(COL9A3):c.763C>T (p.Pro255Ser)
|
rs201294093
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)
|
rs200931999
|
0.00016
|
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)
|
rs780604625
|
0.00016
|
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)
|
rs34044544
|
0.00016
|
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)
|
rs199685020
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_005245.4(FAT1):c.11720A>G (p.Asn3907Ser)
|
rs200662687
|
0.00016
|
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)
|
rs766886560
|
0.00016
|
NM_005422.4(TECTA):c.3236A>G (p.Asp1079Gly)
|
rs562735582
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser)
|
rs749852883
|
0.00016
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)
|
rs200398117
|
0.00016
|
NM_006514.4(SCN10A):c.365C>T (p.Thr122Met)
|
rs142884499
|
0.00016
|
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg)
|
rs778754301
|
0.00016
|
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys)
|
rs368594369
|
0.00016
|
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln)
|
rs375601930
|
0.00016
|
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met)
|
rs201293382
|
0.00016
|
NM_007078.3(LDB3):c.690-4621A>G
|
rs370053163
|
0.00016
|
NM_007289.4(MME):c.445A>G (p.Ile149Val)
|
rs200157166
|
0.00016
|
NM_014813.3(LRIG2):c.1648C>T (p.Arg550Cys)
|
rs201326654
|
0.00016
|
NM_015330.6(SPECC1L):c.1399C>T (p.Arg467Cys)
|
rs145506280
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys)
|
rs201006627
|
0.00016
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln)
|
rs148603551
|
0.00016
|
NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val)
|
rs200834788
|
0.00016
|
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile)
|
rs113542001
|
0.00016
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
NM_020297.4(ABCC9):c.4512+765C>T
|
rs142875103
|
0.00016
|
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)
|
rs146765163
|
0.00016
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)
|
rs144131616
|
0.00016
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro)
|
rs200480831
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val)
|
rs368795540
|
0.00016
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val)
|
rs200444639
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_198334.3(GANAB):c.1210C>T (p.Arg404Trp)
|
rs143499716
|
0.00016
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)
|
rs201784750
|
0.00015
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_000238.4(KCNH2):c.355G>C (p.Asp119His)
|
rs376308069
|
0.00015
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)
|
rs369768947
|
0.00015
|
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
|
rs368862510
|
0.00015
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
NM_000883.4(IMPDH1):c.754G>T (p.Ala252Ser)
|
rs756851981
|
0.00015
|
NM_001042545.2(LTBP4):c.3877G>A (p.Val1293Met)
|
rs376368630
|
0.00015
|
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile)
|
rs202227661
|
0.00015
|
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)
|
rs147798092
|
0.00015
|
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu)
|
rs150737736
|
0.00015
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
NM_001199799.2(ILDR1):c.307G>A (p.Ala103Thr)
|
rs200130100
|
0.00015
|
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala)
|
rs147314754
|
0.00015
|
NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile)
|
rs139147641
|
0.00015
|
NM_001365999.1(SZT2):c.9286+5G>A
|
rs367775055
|
0.00015
|
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
|
rs552311966
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp)
|
rs200554477
|
0.00015
|
NM_001457.4(FLNB):c.4814G>A (p.Arg1605His)
|
rs201630300
|
0.00015
|
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)
|
rs374223828
|
0.00015
|
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys)
|
rs148801165
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys)
|
rs139568495
|
0.00015
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser)
|
rs147962494
|
0.00015
|
NM_004614.5(TK2):c.680C>T (p.Pro227Leu)
|
rs754140768
|
0.00015
|
NM_004655.4(AXIN2):c.344A>G (p.Asn115Ser)
|
rs370257532
|
0.00015
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)
|
rs145428112
|
0.00015
|
NM_006005.3(WFS1):c.1012A>G (p.Ile338Val)
|
rs541594934
|
0.00015
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys)
|
rs201979258
|
0.00015
|
NM_006361.6(HOXB13):c.6G>A (p.Glu2=)
|
rs371544984
|
0.00015
|
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe)
|
rs375940680
|
0.00015
|
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)
|
rs199535268
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile)
|
rs377182808
|
0.00015
|
NM_021628.3(ALOXE3):c.365G>T (p.Cys122Phe)
|
rs142479006
|
0.00015
|
NM_032119.4(ADGRV1):c.3671C>T (p.Thr1224Ile)
|
rs554285146
|
0.00015
|
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His)
|
rs370252248
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln)
|
rs202112906
|
0.00015
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.5299-10T>C
|
rs375279569
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
NM_000085.5(CLCNKB):c.1717T>C (p.Ser573Pro)
|
rs148173992
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000261.2(MYOC):c.376C>T (p.Arg126Trp)
|
rs200120115
|
0.00014
|
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)
|
rs141950826
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu)
|
rs202014178
|
0.00014
|
NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln)
|
rs35057005
|
0.00014
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr)
|
rs150684838
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001291303.3(FAT4):c.11153G>A (p.Arg3718His)
|
rs139635339
|
0.00014
|
NM_001291303.3(FAT4):c.11822T>C (p.Val3941Ala)
|
rs578140620
|
0.00014
|
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile)
|
rs189261750
|
0.00014
|
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)
|
rs766496010
|
0.00014
|
NM_001365276.2(TNXB):c.4679C>T (p.Thr1560Met)
|
rs535714494
|
0.00014
|
NM_001365999.1(SZT2):c.6961C>T (p.Pro2321Ser)
|
rs776699964
|
0.00014
|
NM_001367624.2(ZNF469):c.6227G>A (p.Arg2076Gln)
|
rs554464152
|
0.00014
|
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)
|
rs546141859
|
0.00014
|
NM_001367624.2(ZNF469):c.9620C>T (p.Ala3207Val)
|
rs563202944
|
0.00014
|
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)
|
rs201841311
|
0.00014
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr)
|
rs78377084
|
0.00014
|
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met)
|
rs77739540
|
0.00014
|
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu)
|
rs727503153
|
0.00014
|
NM_001457.4(FLNB):c.3886C>T (p.Pro1296Ser)
|
rs148350434
|
0.00014
|
NM_001853.4(COL9A3):c.1529C>T (p.Thr510Met)
|
rs200521238
|
0.00014
|
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser)
|
rs374503994
|
0.00014
|
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro)
|
rs371230505
|
0.00014
|
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly)
|
rs369794634
|
0.00014
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
|
rs891844407
|
0.00014
|
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)
|
rs141440715
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)
|
rs146077019
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
|
rs786205846
|
0.00014
|
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn)
|
rs373185353
|
0.00014
|
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln)
|
rs141488333
|
0.00014
|
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)
|
rs200188483
|
0.00014
|
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys)
|
rs373917399
|
0.00014
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
NM_004655.4(AXIN2):c.1176G>A (p.Glu392=)
|
rs376052287
|
0.00014
|
NM_004793.4(LONP1):c.1379A>G (p.Asn460Ser)
|
rs373661439
|
0.00014
|
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)
|
rs201366118
|
0.00014
|
NM_004999.4(MYO6):c.2665A>G (p.Met889Val)
|
rs727505098
|
0.00014
|
NM_005262.3(GFER):c.536G>A (p.Arg179His)
|
rs199541169
|
0.00014
|
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn)
|
rs769561057
|
0.00014
|
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)
|
rs200814534
|
0.00014
|
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr)
|
rs199655961
|
0.00014
|
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)
|
rs144588452
|
0.00014
|
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met)
|
rs146305558
|
0.00014
|
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp)
|
rs200557085
|
0.00014
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)
|
rs55674815
|
0.00014
|
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val)
|
rs369038814
|
0.00014
|
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn)
|
rs150156962
|
0.00014
|
NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala)
|
rs144690677
|
0.00014
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
NM_006231.4(POLE):c.3646G>A (p.Gly1216Ser)
|
rs200114024
|
0.00014
|
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala)
|
rs146536985
|
0.00014
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)
|
rs770374931
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser)
|
rs200385766
|
0.00014
|
NM_014727.3(KMT2B):c.5981C>T (p.Ala1994Val)
|
rs546000224
|
0.00014
|
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr)
|
rs201808265
|
0.00014
|
NM_016343.4(CENPF):c.6826T>G (p.Cys2276Gly)
|
rs141620633
|
0.00014
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys)
|
rs369580755
|
0.00014
|
NM_020451.3(SELENON):c.81C>T (p.Arg27=)
|
rs886038660
|
0.00014
|
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln)
|
rs139974034
|
0.00014
|
NM_020937.4(FANCM):c.30G>A (p.Gln10=)
|
rs145745979
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_032119.4(ADGRV1):c.12369A>G (p.Ile4123Met)
|
rs202228562
|
0.00014
|
NM_032119.4(ADGRV1):c.14224G>A (p.Glu4742Lys)
|
rs372362723
|
0.00014
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
NM_032119.4(ADGRV1):c.5156C>T (p.Ala1719Val)
|
rs376126357
|
0.00014
|
NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys)
|
rs374889159
|
0.00014
|
NM_032119.4(ADGRV1):c.6844A>G (p.Thr2282Ala)
|
rs369212457
|
0.00014
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)
|
rs534570825
|
0.00014
|
NM_130468.4(CHST14):c.765C>T (p.Gly255=)
|
rs148053059
|
0.00014
|
NM_170601.5(SIAE):c.634G>A (p.Gly212Arg)
|
rs149466359
|
0.00014
|
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp)
|
rs368130981
|
0.00014
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000094.4(COL7A1):c.8359-17T>A
|
rs200207978
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)
|
rs397516016
|
0.00013
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000540.3(RYR1):c.11450A>T (p.Asp3817Val)
|
rs372491219
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln)
|
rs143681974
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)
|
rs762394421
|
0.00013
|
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)
|
rs373256534
|
0.00013
|
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)
|
rs200528850
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)
|
rs200112094
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001128840.3(CACNA1D):c.5971C>T (p.Arg1991Trp)
|
rs367976757
|
0.00013
|
NM_001145809.2(MYH14):c.1229G>A (p.Arg410His)
|
rs374720181
|
0.00013
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
NM_001148.6(ANK2):c.8239C>T (p.Arg2747Cys)
|
rs376628082
|
0.00013
|
NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)
|
rs62313245
|
0.00013
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)
|
rs149660690
|
0.00013
|
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)
|
rs747531733
|
0.00013
|
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu)
|
rs374899663
|
0.00013
|
NM_001292063.2(OTOG):c.883G>A (p.Val295Met)
|
rs186310325
|
0.00013
|
NM_001365276.2(TNXB):c.4894A>G (p.Ile1632Val)
|
rs766602645
|
0.00013
|
NM_001365276.2(TNXB):c.7694C>T (p.Ala2565Val)
|
rs199719197
|
0.00013
|
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)
|
rs377386505
|
0.00013
|
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)
|
rs114315130
|
0.00013
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
NM_001367624.2(ZNF469):c.4595G>A (p.Arg1532Gln)
|
rs911235059
|
0.00013
|
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys)
|
rs578166707
|
0.00013
|
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile)
|
rs752031193
|
0.00013
|
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)
|
rs138034708
|
0.00013
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
NM_001852.4(COL9A2):c.1049A>G (p.Asp350Gly)
|
rs765020486
|
0.00013
|
NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp)
|
rs201783992
|
0.00013
|
NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr)
|
rs758064613
|
0.00013
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
NM_002204.4(ITGA3):c.2326G>T (p.Gly776Trp)
|
rs542802167
|
0.00013
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
NM_002439.5(MSH3):c.1177G>A (p.Val393Met)
|
rs761779919
|
0.00013
|
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)
|
rs147289289
|
0.00013
|
NM_002473.6(MYH9):c.928A>G (p.Ile310Val)
|
rs149789202
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_002907.4(RECQL):c.468T>G (p.Ile156Met)
|
rs777214281
|
0.00013
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
NM_003737.4(DCHS1):c.1160G>A (p.Arg387His)
|
rs145132459
|
0.00013
|
NM_003922.4(HERC1):c.9682G>A (p.Ala3228Thr)
|
rs201312041
|
0.00013
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
NM_006231.4(POLE):c.6531+5G>A
|
rs368538240
|
0.00013
|
NM_006390.4(IPO8):c.3047G>T (p.Gly1016Val)
|
rs201904393
|
0.00013
|
NM_006514.4(SCN10A):c.2816C>T (p.Pro939Leu)
|
rs202174472
|
0.00013
|
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys)
|
rs143744796
|
0.00013
|
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met)
|
rs772484960
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_014000.3(VCL):c.1403C>T (p.Thr468Met)
|
rs147957747
|
0.00013
|
NM_015378.4(VPS13D):c.8722A>T (p.Thr2908Ser)
|
rs184253678
|
0.00013
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu)
|
rs143835594
|
0.00013
|
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln)
|
rs373011563
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe)
|
rs371563402
|
0.00013
|
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)
|
rs185971062
|
0.00013
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
NM_054027.6(ANKH):c.1461G>A (p.Met487Ile)
|
rs777229764
|
0.00013
|
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)
|
rs199706677
|
0.00013
|
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys)
|
rs201395805
|
0.00013
|
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met)
|
rs747901058
|
0.00013
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)
|
rs146885451
|
0.00012
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)
|
rs570091335
|
0.00012
|
NM_000384.3(APOB):c.11542G>A (p.Ala3848Thr)
|
rs61743512
|
0.00012
|
NM_000384.3(APOB):c.11569G>A (p.Val3857Met)
|
rs145655926
|
0.00012
|
NM_000384.3(APOB):c.288G>T (p.Gln96His)
|
rs186544754
|
0.00012
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)
|
rs376102257
|
0.00012
|
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn)
|
rs150189496
|
0.00012
|
NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr)
|
rs372432070
|
0.00012
|
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser)
|
rs55797424
|
0.00012
|
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys)
|
rs369626956
|
0.00012
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu)
|
rs144603824
|
0.00012
|
NM_001164496.2(CFAP44):c.652del (p.Arg218fs)
|
rs772295550
|
0.00012
|
NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr)
|
rs200729108
|
0.00012
|
NM_001292034.3(TAB2):c.156A>G (p.Arg52=)
|
rs143213478
|
0.00012
|
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro)
|
rs762898505
|
0.00012
|
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile)
|
rs201197899
|
0.00012
|
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)
|
rs766878740
|
0.00012
|
NM_001367624.2(ZNF469):c.5266G>A (p.Ala1756Thr)
|
rs371328036
|
0.00012
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
NM_001457.4(FLNB):c.3032A>C (p.Glu1011Ala)
|
rs754708052
|
0.00012
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
NM_001903.5(CTNNA1):c.1899+4A>G
|
rs371589105
|
0.00012
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)
|
rs147146713
|
0.00012
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00012
|
NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys)
|
rs139132568
|
0.00012
|
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr)
|
rs201742383
|
0.00012
|
NM_005529.7(HSPG2):c.11481C>T (p.Gly3827=)
|
rs150600286
|
0.00012
|
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)
|
rs201491948
|
0.00012
|
NM_006059.4(LAMC3):c.944G>A (p.Arg315Gln)
|
rs45444592
|
0.00012
|
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val)
|
rs776534749
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00012
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
NM_017775.4(TTC19):c.713T>C (p.Met238Thr)
|
rs140719848
|
0.00012
|
NM_018699.4(PRDM5):c.508C>T (p.Pro170Ser)
|
rs746068577
|
0.00012
|
NM_020442.6(VARS2):c.2375A>G (p.Glu792Gly)
|
rs368546838
|
0.00012
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)
|
rs370141550
|
0.00012
|
NM_031475.3(ESPN):c.1489G>A (p.Gly497Arg)
|
rs752185152
|
0.00012
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
0.00012
|
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)
|
rs370504038
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)
|
rs141164483
|
0.00012
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
NM_183357.3(ADCY5):c.1174G>A (p.Val392Met)
|
rs140572299
|
0.00012
|
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)
|
rs988224463
|
0.00012
|
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser)
|
rs200654171
|
0.00012
|
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
|
rs143644029
|
0.00012
|
NM_198334.3(GANAB):c.2588G>A (p.Arg863His)
|
rs146501208
|
0.00012
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
|
rs138837077
|
0.00011
|
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)
|
rs757433005
|
0.00011
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
NM_000097.7(CPOX):c.299A>T (p.Glu100Val)
|
rs367822877
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000260.4(MYO7A):c.4694C>T (p.Thr1565Met)
|
rs764915160
|
0.00011
|
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)
|
rs372344870
|
0.00011
|
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)
|
rs150381599
|
0.00011
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln)
|
rs201328637
|
0.00011
|
NM_000384.3(APOB):c.2204T>A (p.Val735Glu)
|
rs199872875
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
0.00011
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
NM_001031689.3(PLAA):c.298G>T (p.Asp100Tyr)
|
rs201814139
|
0.00011
|
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu)
|
rs368800243
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His)
|
rs746541677
|
0.00011
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys)
|
rs200309792
|
0.00011
|
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu)
|
rs145986920
|
0.00011
|
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)
|
rs76754818
|
0.00011
|
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)
|
rs139199018
|
0.00011
|
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)
|
rs147619875
|
0.00011
|
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu)
|
rs372534074
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val)
|
rs377290301
|
0.00011
|
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)
|
rs370418677
|
0.00011
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00011
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
NM_001291303.3(FAT4):c.12716T>C (p.Met4239Thr)
|
rs137954725
|
0.00011
|
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)
|
rs151034190
|
0.00011
|
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn)
|
rs367799104
|
0.00011
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
NM_001370466.1(NOD2):c.2382-9T>A
|
rs201759367
|
0.00011
|
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)
|
rs142917664
|
0.00011
|
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val)
|
rs117411391
|
0.00011
|
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)
|
rs201617511
|
0.00011
|
NM_001457.4(FLNB):c.2071C>T (p.Arg691Cys)
|
rs776421446
|
0.00011
|
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser)
|
rs374090457
|
0.00011
|
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
0.00011
|
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)
|
rs199653123
|
0.00011
|
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)
|
rs201849355
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)
|
rs767979763
|
0.00011
|
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
|
rs188802138
|
0.00011
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)
|
rs141078292
|
0.00011
|
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)
|
rs755222875
|
0.00011
|
NM_004655.4(AXIN2):c.1882C>T (p.Arg628Trp)
|
rs200201811
|
0.00011
|
NM_005360.5(MAF):c.460G>A (p.Gly154Ser)
|
rs1022938471
|
0.00011
|
NM_005422.4(TECTA):c.4824C>T (p.Ile1608=)
|
rs747713348
|
0.00011
|
NM_005422.4(TECTA):c.915C>T (p.Cys305=)
|
rs367974065
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)
|
rs748755187
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
NM_012293.3(PXDN):c.1495C>G (p.Gln499Glu)
|
rs185623598
|
0.00011
|
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
|
rs147268052
|
0.00011
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn)
|
rs200073414
|
0.00011
|
NM_016239.4(MYO15A):c.6581G>A (p.Arg2194Gln)
|
rs375638438
|
0.00011
|
NM_018451.5(CENPJ):c.3803G>A (p.Gly1268Asp)
|
rs151090294
|
0.00011
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr)
|
rs373068264
|
0.00011
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)
|
rs191462023
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg)
|
rs770802961
|
0.00011
|
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
0.00011
|
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)
|
rs201480340
|
0.00011
|
NM_032119.4(ADGRV1):c.4472C>T (p.Thr1491Met)
|
rs138373307
|
0.00011
|
NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala)
|
rs201186767
|
0.00011
|
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=)
|
rs201983595
|
0.00011
|
NM_032122.5(DTNBP1):c.811+15C>G
|
rs146113366
|
0.00011
|
NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)
|
rs371662809
|
0.00011
|
NM_052867.4(NALCN):c.2266G>A (p.Val756Met)
|
rs149203278
|
0.00011
|
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)
|
rs201179101
|
0.00011
|
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)
|
rs188490457
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_173076.3(ABCA12):c.2744C>T (p.Ser915Phe)
|
rs139223000
|
0.00011
|
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp)
|
rs187033414
|
0.00011
|
NM_205850.3(SLC24A5):c.922T>G (p.Trp308Gly)
|
rs192454382
|
0.00011
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)
|
rs574061789
|
0.00010
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)
|
rs200434921
|
0.00010
|
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=)
|
rs546300971
|
0.00010
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)
|
rs372366760
|
0.00010
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)
|
rs138593495
|
0.00010
|
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=)
|
rs201588544
|
0.00010
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
0.00010
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
NM_000717.5(CA4):c.923C>A (p.Ala308Asp)
|
rs201580764
|
0.00010
|
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)
|
rs763738559
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)
|
rs151039810
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp)
|
rs144688228
|
0.00010
|
NM_001128840.3(CACNA1D):c.6101G>A (p.Arg2034Gln)
|
rs771758707
|
0.00010
|
NM_001148.6(ANK2):c.10627A>G (p.Ile3543Val)
|
rs753102215
|
0.00010
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys)
|
rs116253689
|
0.00010
|
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
|
rs180177462
|
0.00010
|
NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile)
|
rs369024765
|
0.00010
|
NM_001367624.2(ZNF469):c.10462G>A (p.Glu3488Lys)
|
rs781244140
|
0.00010
|
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)
|
rs372620412
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp)
|
rs189796608
|
0.00010
|
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His)
|
rs199524299
|
0.00010
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn)
|
rs200153638
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_002230.4(JUP):c.608G>A (p.Arg203His)
|
rs200221163
|
0.00010
|
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe)
|
rs147618989
|
0.00010
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00010
|
NM_002473.6(MYH9):c.1149C>T (p.Thr383=)
|
rs143974891
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_004447.6(EPS8):c.670G>A (p.Val224Ile)
|
rs758506896
|
0.00010
|
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)
|
rs144396411
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005477.3(HCN4):c.3195C>A (p.Val1065=)
|
rs4493011
|
0.00010
|
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)
|
rs142996063
|
0.00010
|
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)
|
rs181961360
|
0.00010
|
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu)
|
rs772734618
|
0.00010
|
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys)
|
rs375274122
|
0.00010
|
NM_006514.4(SCN10A):c.4396C>T (p.Gln1466Ter)
|
rs199931920
|
0.00010
|
NM_006947.4(SRP72):c.110-5T>G
|
rs186908289
|
0.00010
|
NM_006947.4(SRP72):c.1135A>G (p.Met379Val)
|
rs201095666
|
0.00010
|
NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys)
|
rs775142959
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His)
|
rs202066156
|
0.00010
|
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile)
|
rs61736559
|
0.00010
|
NM_017654.4(SAMD9):c.3215T>C (p.Leu1072Pro)
|
rs144312575
|
0.00010
|
NM_017827.4(SARS2):c.1292G>A (p.Arg431His)
|
rs146193366
|
0.00010
|
NM_018060.4(IARS2):c.2360G>A (p.Arg787Gln)
|
rs189118525
|
0.00010
|
NM_018699.4(PRDM5):c.1031-6T>A
|
rs753768741
|
0.00010
|
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=)
|
rs756779855
|
0.00010
|
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)
|
rs372158876
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)
|
rs139714761
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_032119.4(ADGRV1):c.5351G>A (p.Arg1784Lys)
|
rs748852381
|
0.00010
|
NM_032888.4(COL27A1):c.3262C>A (p.Pro1088Thr)
|
rs146162741
|
0.00010
|
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)
|
rs202190573
|
0.00010
|
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)
|
rs199712282
|
0.00010
|
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)
|
rs56378658
|
0.00010
|
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His)
|
rs200552277
|
0.00010
|
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)
|
rs143920565
|
0.00010
|
NM_080680.3(COL11A2):c.5071-7C>G
|
rs200548977
|
0.00010
|
NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln)
|
rs144936138
|
0.00010
|
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)
|
rs200160724
|
0.00010
|
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)
|
rs140348243
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
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_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
0.00009
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)
|
rs890999119
|
0.00009
|
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn)
|
rs376762135
|
0.00009
|
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)
|
rs374427586
|
0.00009
|
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
|
rs144036466
|
0.00009
|
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
|
rs371066387
|
0.00009
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu)
|
rs746621296
|
0.00009
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile)
|
rs199472677
|
0.00009
|
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)
|
rs151031345
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln)
|
rs782426472
|
0.00009
|
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)
|
rs397516328
|
0.00009
|
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)
|
rs140224236
|
0.00009
|
NM_000314.6(PTEN):c.-920G>A
|
rs786204937
|
0.00009
|
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.4325A>G (p.Asn1442Ser)
|
rs1473144775
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr)
|
rs551889844
|
0.00009
|
NM_000460.4(THPO):c.-7G>A
|
rs140178375
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu)
|
rs151029675
|
0.00009
|
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
|
rs199837883
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)
|
rs367638447
|
0.00009
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)
|
rs776608168
|
0.00009
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001042472.3(ABHD12):c.118C>G (p.Leu40Val)
|
rs746196586
|
0.00009
|
NM_001077653.2(TBX20):c.1331C>T (p.Thr444Met)
|
rs201217462
|
0.00009
|
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)
|
rs149846886
|
0.00009
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)
|
rs186264035
|
0.00009
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln)
|
rs151218210
|
0.00009
|
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)
|
rs752213208
|
0.00009
|
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)
|
rs372320172
|
0.00009
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
NM_001291303.3(FAT4):c.14362G>A (p.Gly4788Arg)
|
rs138173652
|
0.00009
|
NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln)
|
rs373393333
|
0.00009
|
NM_001292034.3(TAB2):c.311C>T (p.Thr104Met)
|
rs559771770
|
0.00009
|
NM_001365276.2(TNXB):c.7889G>A (p.Arg2630His)
|
rs374865424
|
0.00009
|
NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser)
|
rs370230435
|
0.00009
|
NM_001367624.2(ZNF469):c.266A>G (p.Lys89Arg)
|
rs1022368248
|
0.00009
|
NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu)
|
rs1009769670
|
0.00009
|
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)
|
rs376812264
|
0.00009
|
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)
|
rs375838474
|
0.00009
|
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)
|
rs775475186
|
0.00009
|
NM_001378615.1(CC2D2A):c.2182-9G>A
|
rs376312792
|
0.00009
|
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)
|
rs144969169
|
0.00009
|
NM_001384732.1(CPLANE1):c.6446G>A (p.Ser2149Asn)
|
rs765250980
|
0.00009
|
NM_001457.4(FLNB):c.3673G>A (p.Ala1225Thr)
|
rs371610564
|
0.00009
|
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys)
|
rs146963572
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu)
|
rs375570393
|
0.00009
|
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg)
|
rs765855138
|
0.00009
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met)
|
rs200018557
|
0.00009
|
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala)
|
rs140274454
|
0.00009
|
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)
|
rs192842970
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln)
|
rs200351280
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr)
|
rs139559495
|
0.00009
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
NM_002291.3(LAMB1):c.5225-8C>A
|
rs778153007
|
0.00009
|
NM_002471.4(MYH6):c.4651-3C>A
|
rs572175190
|
0.00009
|
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys)
|
rs201021615
|
0.00009
|
NM_002528.7(NTHL1):c.607C>T (p.Leu203=)
|
rs369076851
|
0.00009
|
NM_002907.4(RECQL):c.2T>C (p.Met1Thr)
|
rs146924988
|
0.00009
|
NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met)
|
rs150889229
|
0.00009
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
NM_004341.5(CAD):c.3309G>A (p.Thr1103=)
|
rs771911380
|
0.00009
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
NM_004415.4(DSP):c.667G>A (p.Gly223Ser)
|
rs200806163
|
0.00009
|
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)
|
rs143145248
|
0.00009
|
NM_004991.4(MECOM):c.2571C>A (p.His857Gln)
|
rs371991943
|
0.00009
|
NM_005422.4(TECTA):c.1132G>A (p.Val378Met)
|
rs372860835
|
0.00009
|
NM_005422.4(TECTA):c.2266A>G (p.Lys756Glu)
|
rs141420954
|
0.00009
|
NM_005422.4(TECTA):c.3016G>A (p.Gly1006Ser)
|
rs375052932
|
0.00009
|
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=)
|
rs200367148
|
0.00009
|
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)
|
rs200017020
|
0.00009
|
NM_005876.5(SPEG):c.8860G>A (p.Gly2954Ser)
|
rs377476081
|
0.00009
|
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser)
|
rs150840308
|
0.00009
|
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp)
|
rs138968466
|
0.00009
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
NM_006440.5(TXNRD2):c.135C>T (p.Val45=)
|
rs752213778
|
0.00009
|
NM_006514.4(SCN10A):c.1417G>C (p.Asp473His)
|
rs143920053
|
0.00009
|
NM_006514.4(SCN10A):c.3445G>A (p.Val1149Met)
|
rs560631745
|
0.00009
|
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln)
|
rs149155352
|
0.00009
|
NM_006514.4(SCN10A):c.5540G>A (p.Arg1847Gln)
|
rs148537653
|
0.00009
|
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)
|
rs769397647
|
0.00009
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg)
|
rs764125338
|
0.00009
|
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr)
|
rs763536557
|
0.00009
|
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)
|
rs112496709
|
0.00009
|
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His)
|
rs552189642
|
0.00009
|
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg)
|
rs201542989
|
0.00009
|
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)
|
rs377389290
|
0.00009
|
NM_016366.3(CABP2):c.516C>T (p.Ile172=)
|
rs757281872
|
0.00009
|
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn)
|
rs3737274
|
0.00009
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu)
|
rs549081765
|
0.00009
|
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg)
|
rs143341041
|
0.00009
|
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)
|
rs192448853
|
0.00009
|
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met)
|
rs397517319
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His)
|
rs200251748
|
0.00009
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_031475.3(ESPN):c.2406-4C>T
|
rs148975469
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)
|
rs761066341
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.4681G>A (p.Ala1561Thr)
|
rs376316770
|
0.00009
|
NM_032119.4(ADGRV1):c.6938C>T (p.Pro2313Leu)
|
rs199571511
|
0.00009
|
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
|
rs200179979
|
0.00009
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)
|
rs372035044
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_139242.4(MTFMT):c.1094G>A (p.Cys365Tyr)
|
rs190189891
|
0.00009
|
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)
|
rs181520023
|
0.00009
|
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)
|
rs199917913
|
0.00009
|
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile)
|
rs201308481
|
0.00009
|
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)
|
rs371856107
|
0.00009
|
NM_170682.4(P2RX2):c.1133T>C (p.Phe378Ser)
|
rs143626910
|
0.00009
|
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)
|
rs45610936
|
0.00009
|
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp)
|
rs368135271
|
0.00009
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln)
|
rs200312028
|
0.00009
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)
|
rs372436488
|
0.00008
|
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)
|
rs200973262
|
0.00008
|
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His)
|
rs201432371
|
0.00008
|
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn)
|
rs200495316
|
0.00008
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg)
|
rs549696399
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000350.3(ABCA4):c.673G>A (p.Val225Met)
|
rs540124349
|
0.00008
|
NM_000384.3(APOB):c.11966G>A (p.Arg3989His)
|
rs148197354
|
0.00008
|
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)
|
rs777718986
|
0.00008
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)
|
rs140616359
|
0.00008
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
NM_001025616.3(ARHGAP24):c.1916G>A (p.Ser639Asn)
|
rs200213078
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile)
|
rs373740752
|
0.00008
|
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile)
|
rs200773083
|
0.00008
|
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His)
|
rs373607095
|
0.00008
|
NM_001202.6(BMP4):c.898C>T (p.Arg300Trp)
|
rs182373336
|
0.00008
|
NM_001354604.2(MITF):c.537C>T (p.Asn179=)
|
rs150591206
|
0.00008
|
NM_001365999.1(SZT2):c.4188C>T (p.Ser1396=)
|
rs138401303
|
0.00008
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
NM_001844.5(COL2A1):c.410G>A (p.Arg137His)
|
rs201675352
|
0.00008
|
NM_001853.4(COL9A3):c.332C>T (p.Pro111Leu)
|
rs368744467
|
0.00008
|
NM_001853.4(COL9A3):c.931G>A (p.Val311Met)
|
rs546308741
|
0.00008
|
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr)
|
rs377044024
|
0.00008
|
NM_001903.5(CTNNA1):c.2559C>T (p.Asn853=)
|
rs374540412
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
NM_002470.4(MYH3):c.4987C>T (p.Arg1663Trp)
|
rs777159320
|
0.00008
|
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met)
|
rs200153625
|
0.00008
|
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)
|
rs527571090
|
0.00008
|
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr)
|
rs187203579
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)
|
rs28936704
|
0.00008
|
NM_003977.4(AIP):c.561C>T (p.Asn187=)
|
rs142037029
|
0.00008
|
NM_004655.4(AXIN2):c.2239C>T (p.His747Tyr)
|
rs143571197
|
0.00008
|
NM_004655.4(AXIN2):c.475G>T (p.Asp159Tyr)
|
rs753036084
|
0.00008
|
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
|
rs186780639
|
0.00008
|
NM_006019.4(TCIRG1):c.631-15_642dup
|
rs745521166
|
0.00008
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)
|
rs746809573
|
0.00008
|
NM_006514.4(SCN10A):c.1601G>A (p.Arg534Gln)
|
rs147246725
|
0.00008
|
NM_006514.4(SCN10A):c.3712C>G (p.Leu1238Val)
|
rs960602539
|
0.00008
|
NM_006514.4(SCN10A):c.446G>A (p.Arg149Gln)
|
rs201706560
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_016239.4(MYO15A):c.5830C>T (p.Arg1944Cys)
|
rs199968059
|
0.00008
|
NM_016580.4(PCDH12):c.2534C>T (p.Thr845Met)
|
rs368872362
|
0.00008
|
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter)
|
rs148855956
|
0.00008
|
NM_017654.4(SAMD9):c.4586G>A (p.Arg1529His)
|
rs149966534
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_018699.4(PRDM5):c.6G>T (p.Leu2=)
|
rs745891819
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_021830.5(TWNK):c.1485G>A (p.Arg495=)
|
rs202197777
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024915.4(GRHL2):c.303T>A (p.Ser101Arg)
|
rs140106332
|
0.00008
|
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)
|
rs369717492
|
0.00008
|
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)
|
rs757135353
|
0.00008
|
NM_032237.5(POMK):c.704A>G (p.Asn235Ser)
|
rs200742772
|
0.00008
|
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)
|
rs542676905
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
|
rs369726425
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)
|
rs41297067
|
0.00008
|
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys)
|
rs752552097
|
0.00008
|
NM_080680.3(COL11A2):c.2326C>T (p.Arg776Cys)
|
rs776701792
|
0.00008
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00008
|
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met)
|
rs370691004
|
0.00008
|
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys)
|
rs140548353
|
0.00008
|
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00008
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00007
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_000078.3(CETP):c.89G>A (p.Cys30Tyr)
|
rs771585518
|
0.00007
|
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)
|
rs368480491
|
0.00007
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=)
|
rs757548236
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val)
|
rs750998195
|
0.00007
|
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)
|
rs199473392
|
0.00007
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
NM_001039141.3(TRIOBP):c.5867C>T (p.Pro1956Leu)
|
rs756017020
|
0.00007
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)
|
rs397516723
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)
|
rs201768056
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001136193.2(FASTKD2):c.558A>G (p.Thr186=)
|
rs569854101
|
0.00007
|
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala)
|
rs747961230
|
0.00007
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)
|
rs371357815
|
0.00007
|
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile)
|
rs149292242
|
0.00007
|
NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu)
|
rs373153154
|
0.00007
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys)
|
rs141559449
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser)
|
rs778821191
|
0.00007
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)
|
rs371108940
|
0.00007
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln)
|
rs770482348
|
0.00007
|
NM_001853.4(COL9A3):c.1624G>A (p.Ala542Thr)
|
rs190167637
|
0.00007
|
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)
|
rs372387693
|
0.00007
|
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)
|
rs144562769
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)
|
rs782622653
|
0.00007
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala)
|
rs754354210
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp)
|
rs3087469
|
0.00007
|
NM_002691.4(POLD1):c.2178G>C (p.Gln726His)
|
rs747483140
|
0.00007
|
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)
|
rs113809568
|
0.00007
|
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)
|
rs35111108
|
0.00007
|
NM_003839.4(TNFRSF11A):c.121G>A (p.Glu41Lys)
|
rs149317524
|
0.00007
|
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala)
|
rs201210799
|
0.00007
|
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)
|
rs145101532
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp)
|
rs200954931
|
0.00007
|
NM_004793.4(LONP1):c.2853G>C (p.Gln951His)
|
rs370434508
|
0.00007
|
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)
|
rs186589083
|
0.00007
|
NM_005422.4(TECTA):c.2967C>A (p.His989Gln)
|
rs200821009
|
0.00007
|
NM_005472.5(KCNE3):c.296G>A (p.Arg99His)
|
rs121908441
|
0.00007
|
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)
|
rs762770081
|
0.00007
|
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu)
|
rs144749616
|
0.00007
|
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser)
|
rs780727054
|
0.00007
|
NM_006231.4(POLE):c.5278G>A (p.Val1760Met)
|
rs373272795
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His)
|
rs377074932
|
0.00007
|
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro)
|
rs141168255
|
0.00007
|
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu)
|
rs201184915
|
0.00007
|
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn)
|
rs962124239
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017636.4(TRPM4):c.2508C>T (p.Gly836=)
|
rs750999263
|
0.00007
|
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=)
|
rs767368987
|
0.00007
|
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His)
|
rs184951836
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_032119.4(ADGRV1):c.11339G>A (p.Arg3780His)
|
rs375613551
|
0.00007
|
NM_032119.4(ADGRV1):c.3955C>T (p.Arg1319Trp)
|
rs372789540
|
0.00007
|
NM_032380.5(GFM2):c.1196T>C (p.Ile399Thr)
|
rs143233751
|
0.00007
|
NM_080680.3(COL11A2):c.142C>T (p.Arg48Trp)
|
rs151140273
|
0.00007
|
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His)
|
rs748159740
|
0.00007
|
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile)
|
rs201180712
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val)
|
rs201246660
|
0.00007
|
NM_198999.3(SLC26A5):c.1849C>T (p.Pro617Ser)
|
rs144150940
|
0.00007
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met)
|
rs771706267
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe)
|
rs201403066
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
NM_000142.5(FGFR3):c.885C>T (p.Gly295=)
|
rs375181682
|
0.00006
|
NM_000143.4(FH):c.35G>T (p.Arg12Leu)
|
rs367826177
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
NM_000218.3(KCNQ1):c.1733-7C>G
|
rs367568223
|
0.00006
|
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu)
|
rs794728399
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met)
|
rs730880535
|
0.00006
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000260.4(MYO7A):c.3503+9C>T
|
rs1481745974
|
0.00006
|
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys)
|
rs369565476
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln)
|
rs767089602
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
NM_000384.3(APOB):c.5863G>A (p.Val1955Met)
|
rs368970025
|
0.00006
|
NM_000384.3(APOB):c.8134C>T (p.Arg2712Cys)
|
rs372245645
|
0.00006
|
NM_000391.4(TPP1):c.323C>T (p.Ala108Val)
|
rs374132017
|
0.00006
|
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
|
rs748686068
|
0.00006
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile)
|
rs375669366
|
0.00006
|
NM_001001331.4(ATP2B2):c.1627G>A (p.Ala543Thr)
|
rs777396418
|
0.00006
|
NM_001003841.3(SLC6A19):c.812C>T (p.Ala271Val)
|
rs374976872
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001018008.2(TPM1):c.695G>A (p.Arg232His)
|
rs730881128
|
0.00006
|
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)
|
rs560827790
|
0.00006
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)
|
rs140812286
|
0.00006
|
NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs)
|
rs782327744
|
0.00006
|
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile)
|
rs146225813
|
0.00006
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=)
|
rs369697705
|
0.00006
|
NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu)
|
rs763483604
|
0.00006
|
NM_001148.6(ANK2):c.10016C>T (p.Ala3339Val)
|
rs150437645
|
0.00006
|
NM_001148.6(ANK2):c.4982A>G (p.Lys1661Arg)
|
rs761759361
|
0.00006
|
NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala)
|
rs781344591
|
0.00006
|
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)
|
rs200922244
|
0.00006
|
NM_001164508.2(NEB):c.18694-7A>T
|
rs373371474
|
0.00006
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)
|
rs570620177
|
0.00006
|
NM_001195248.2(APTX):c.771-5A>G
|
rs751250105
|
0.00006
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00006
|
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu)
|
rs372350131
|
0.00006
|
NM_001286577.2(C2CD3):c.1964C>A (p.Pro655Gln)
|
rs555646012
|
0.00006
|
NM_001286577.2(C2CD3):c.2594C>G (p.Ser865Cys)
|
rs148264086
|
0.00006
|
NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val)
|
rs570502199
|
0.00006
|
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met)
|
rs758489218
|
0.00006
|
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr)
|
rs773358950
|
0.00006
|
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr)
|
rs751320202
|
0.00006
|
NM_001365276.2(TNXB):c.6362G>A (p.Arg2121His)
|
rs778533848
|
0.00006
|
NM_001365276.2(TNXB):c.7513G>A (p.Glu2505Lys)
|
rs61731831
|
0.00006
|
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser)
|
rs745385522
|
0.00006
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys)
|
rs188954563
|
0.00006
|
NM_001367624.2(ZNF469):c.2345T>C (p.Val782Ala)
|
rs535983876
|
0.00006
|
NM_001367624.2(ZNF469):c.5206G>A (p.Gly1736Arg)
|
rs796410888
|
0.00006
|
NM_001367624.2(ZNF469):c.6236C>T (p.Ser2079Phe)
|
rs765190704
|
0.00006
|
NM_001367624.2(ZNF469):c.7090G>A (p.Ala2364Thr)
|
rs957383204
|
0.00006
|
NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala)
|
rs751901105
|
0.00006
|
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)
|
rs202002052
|
0.00006
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
NM_001378964.1(CDON):c.1069C>A (p.Arg357=)
|
rs200614048
|
0.00006
|
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=)
|
rs148356050
|
0.00006
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
NM_001384479.1(AGT):c.1345C>T (p.Arg449Cys)
|
rs375261929
|
0.00006
|
NM_001457.4(FLNB):c.5380G>A (p.Gly1794Arg)
|
rs149600652
|
0.00006
|
NM_001457.4(FLNB):c.5843G>A (p.Arg1948Gln)
|
rs143752722
|
0.00006
|
NM_001673.5(ASNS):c.1464C>T (p.Tyr488=)
|
rs768064875
|
0.00006
|
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr)
|
rs199875726
|
0.00006
|
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr)
|
rs141776183
|
0.00006
|
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)
|
rs201847956
|
0.00006
|
NM_001853.4(COL9A3):c.1748G>A (p.Arg583His)
|
rs201219004
|
0.00006
|
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)
|
rs775587076
|
0.00006
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
NM_001987.5(ETV6):c.1133G>A (p.Arg378Gln)
|
rs146280653
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
NM_002230.4(JUP):c.778G>A (p.Ala260Thr)
|
rs149623442
|
0.00006
|
NM_002473.6(MYH9):c.3676C>T (p.Arg1226Trp)
|
rs375797448
|
0.00006
|
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)
|
rs375955867
|
0.00006
|
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)
|
rs149169068
|
0.00006
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp)
|
rs780138978
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)
|
rs530603992
|
0.00006
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His)
|
rs753184200
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_003977.4(AIP):c.403C>T (p.His135Tyr)
|
rs150487522
|
0.00006
|
NM_003998.4(NFKB1):c.692G>A (p.Arg231His)
|
rs146936581
|
0.00006
|
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)
|
rs140251789
|
0.00006
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val)
|
rs201531372
|
0.00006
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met)
|
rs372282487
|
0.00006
|
NM_005422.4(TECTA):c.841G>A (p.Val281Ile)
|
rs142205703
|
0.00006
|
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His)
|
rs775389963
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
NM_006012.4(CLPP):c.340C>T (p.Pro114Ser)
|
rs771668786
|
0.00006
|
NM_006059.4(LAMC3):c.4660C>T (p.Arg1554Cys)
|
rs375971925
|
0.00006
|
NM_006231.4(POLE):c.1106+20A>G
|
rs200322118
|
0.00006
|
NM_006231.4(POLE):c.5553-12C>G
|
rs766922669
|
0.00006
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
NM_006514.4(SCN10A):c.1754C>T (p.Ser585Leu)
|
rs781705809
|
0.00006
|
NM_006514.4(SCN10A):c.3010T>G (p.Ser1004Ala)
|
rs186031413
|
0.00006
|
NM_006514.4(SCN10A):c.3425G>A (p.Arg1142His)
|
rs200584416
|
0.00006
|
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met)
|
rs184521520
|
0.00006
|
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter)
|
rs149504103
|
0.00006
|
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg)
|
rs566463138
|
0.00006
|
NM_007103.4(NDUFV1):c.249G>A (p.Ser83=)
|
rs773832212
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp)
|
rs147617631
|
0.00006
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
0.00006
|
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)
|
rs200015085
|
0.00006
|
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)
|
rs189033496
|
0.00006
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
NM_015311.3(OBSL1):c.4609+12G>A
|
rs367810594
|
0.00006
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln)
|
rs769189017
|
0.00006
|
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)
|
rs369907002
|
0.00006
|
NM_017654.4(SAMD9):c.1370A>C (p.Glu457Ala)
|
rs147552284
|
0.00006
|
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val)
|
rs61737194
|
0.00006
|
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly)
|
rs781481819
|
0.00006
|
NM_020117.11(LARS1):c.3205G>A (p.Val1069Ile)
|
rs777624825
|
0.00006
|
NM_020207.7(ERCC6L2):c.2746G>A (p.Asp916Asn)
|
rs953232395
|
0.00006
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
NM_020461.4(TUBGCP6):c.1719C>T (p.Tyr573=)
|
rs201299983
|
0.00006
|
NM_020461.4(TUBGCP6):c.1851C>T (p.Ser617=)
|
rs375913178
|
0.00006
|
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu)
|
rs372536101
|
0.00006
|
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys)
|
rs200173413
|
0.00006
|
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys)
|
rs199699785
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.9058C>T (p.Arg3020Cys)
|
rs181658753
|
0.00006
|
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)
|
rs577253174
|
0.00006
|
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)
|
rs199543540
|
0.00006
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)
|
rs371970388
|
0.00006
|
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)
|
rs369108080
|
0.00006
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
|
rs746621216
|
0.00006
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
NM_032119.4(ADGRV1):c.18209C>T (p.Thr6070Met)
|
rs776008411
|
0.00006
|
NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met)
|
rs368092861
|
0.00006
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu)
|
rs752759589
|
0.00006
|
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)
|
rs779637525
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
NM_033629.6(TREX1):c.219G>A (p.Pro73=)
|
rs778992418
|
0.00006
|
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala)
|
rs750686734
|
0.00006
|
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)
|
rs371864924
|
0.00006
|
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala)
|
rs555936455
|
0.00006
|
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)
|
rs528009333
|
0.00006
|
NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp)
|
rs768988213
|
0.00006
|
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)
|
rs749716412
|
0.00006
|
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys)
|
rs144690298
|
0.00006
|
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)
|
rs201083070
|
0.00006
|
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys)
|
rs144350008
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)
|
rs371846002
|
0.00006
|
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys)
|
rs537738396
|
0.00006
|
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr)
|
rs200408568
|
0.00006
|
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=)
|
rs754553205
|
0.00006
|
NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu)
|
rs775708467
|
0.00006
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00006
|
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val)
|
rs759239515
|
0.00006
|
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)
|
rs199571930
|
0.00006
|
NM_206933.4(USH2A):c.8846-7T>C
|
rs769662049
|
0.00006
|
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu)
|
rs114341997
|
0.00006
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
NM_000059.4(BRCA2):c.8755-9T>C
|
rs397507413
|
0.00005
|
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)
|
rs763360081
|
0.00005
|
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)
|
rs35521793
|
0.00005
|
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)
|
rs139935847
|
0.00005
|
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
|
rs371849585
|
0.00005
|
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)
|
rs972796332
|
0.00005
|
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
|
rs533602128
|
0.00005
|
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser)
|
rs372558522
|
0.00005
|
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=)
|
rs202109186
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)
|
rs199473353
|
0.00005
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln)
|
rs374912424
|
0.00005
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.3670G>A (p.Ala1224Thr)
|
rs748928605
|
0.00005
|
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)
|
rs373048784
|
0.00005
|
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln)
|
rs371115266
|
0.00005
|
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)
|
rs782505601
|
0.00005
|
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)
|
rs929302665
|
0.00005
|
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val)
|
rs751938579
|
0.00005
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
NM_000458.4(HNF1B):c.1239C>T (p.Val413=)
|
rs201113814
|
0.00005
|
NM_000465.4(BARD1):c.1353A>T (p.Gly451=)
|
rs369564500
|
0.00005
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu)
|
rs368351103
|
0.00005
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)
|
rs187569997
|
0.00005
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val)
|
rs775455157
|
0.00005
|
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)
|
rs200170681
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
NM_001083961.2(WDR62):c.3558C>T (p.Ser1186=)
|
rs111889921
|
0.00005
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)
|
rs147458476
|
0.00005
|
NM_001148.6(ANK2):c.5063A>G (p.Gln1688Arg)
|
rs369680021
|
0.00005
|
NM_001148.6(ANK2):c.8387C>T (p.Pro2796Leu)
|
rs182956726
|
0.00005
|
NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly)
|
rs142302291
|
0.00005
|
NM_001184.4(ATR):c.3151C>T (p.Arg1051Cys)
|
rs367641692
|
0.00005
|
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys)
|
rs746732835
|
0.00005
|
NM_001205293.3(CACNA1E):c.3491C>T (p.Ala1164Val)
|
rs377232916
|
0.00005
|
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys)
|
rs199778782
|
0.00005
|
NM_001292063.2(OTOG):c.5626C>T (p.Leu1876=)
|
rs748088599
|
0.00005
|
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr)
|
rs777809121
|
0.00005
|
NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu)
|
rs753130543
|
0.00005
|
NM_001367624.2(ZNF469):c.4745G>A (p.Arg1582His)
|
rs758312819
|
0.00005
|
NM_001367624.2(ZNF469):c.5332C>A (p.Pro1778Thr)
|
rs528985816
|
0.00005
|
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)
|
rs1163683032
|
0.00005
|
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)
|
rs756584594
|
0.00005
|
NM_001371904.1(APOA5):c.875C>T (p.Thr292Ile)
|
rs34832733
|
0.00005
|
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser)
|
rs200927261
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)
|
rs202110907
|
0.00005
|
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe)
|
rs188793584
|
0.00005
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln)
|
rs752842243
|
0.00005
|
NM_001457.4(FLNB):c.3655C>T (p.Arg1219Trp)
|
rs763607287
|
0.00005
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=)
|
rs750227063
|
0.00005
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)
|
rs761077330
|
0.00005
|
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys)
|
rs376664058
|
0.00005
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_002055.5(GFAP):c.1003G>A (p.Gly335Arg)
|
rs149353780
|
0.00005
|
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)
|
rs782301706
|
0.00005
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)
|
rs373457153
|
0.00005
|
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
NM_002615.7(SERPINF1):c.427G>A (p.Val143Ile)
|
rs548418598
|
0.00005
|
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met)
|
rs376711125
|
0.00005
|
NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr)
|
rs150889040
|
0.00005
|
NM_003047.5(SLC9A1):c.1695C>T (p.Gly565=)
|
rs144261466
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=)
|
rs370161556
|
0.00005
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
NM_004793.4(LONP1):c.613C>T (p.Arg205Cys)
|
rs758142635
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_006231.4(POLE):c.2818A>G (p.Met940Val)
|
rs148382941
|
0.00005
|
NM_006231.4(POLE):c.4862T>G (p.Val1621Gly)
|
rs534387116
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr)
|
rs200324539
|
0.00005
|
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)
|
rs767775507
|
0.00005
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_007215.4(POLG2):c.361T>G (p.Phe121Val)
|
rs376142071
|
0.00005
|
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile)
|
rs80357364
|
0.00005
|
NM_012193.4(FZD4):c.98C>A (p.Pro33Gln)
|
rs756119359
|
0.00005
|
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met)
|
rs138264216
|
0.00005
|
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val)
|
rs756994633
|
0.00005
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met)
|
rs767072861
|
0.00005
|
NM_014822.4(SEC24D):c.1091A>G (p.Asn364Ser)
|
rs189735385
|
0.00005
|
NM_015650.4(TRAF3IP1):c.1451+5G>A
|
rs200601081
|
0.00005
|
NM_016239.4(MYO15A):c.4526T>C (p.Ile1509Thr)
|
rs757305597
|
0.00005
|
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_018060.4(IARS2):c.800G>A (p.Arg267His)
|
rs377432411
|
0.00005
|
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=)
|
rs773258464
|
0.00005
|
NM_020297.4(ABCC9):c.4512+777G>A
|
rs542730918
|
0.00005
|
NM_021076.4(NEFH):c.2362C>A (p.Pro788Thr)
|
rs1346622497
|
0.00005
|
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=)
|
rs375545532
|
0.00005
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_032119.4(ADGRV1):c.10475C>T (p.Ser3492Phe)
|
rs375619656
|
0.00005
|
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)
|
rs200943280
|
0.00005
|
NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys)
|
rs777661211
|
0.00005
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
NM_032119.4(ADGRV1):c.15884A>T (p.Glu5295Val)
|
rs766907011
|
0.00005
|
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
|
rs377173958
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_032237.5(POMK):c.256C>T (p.Arg86Cys)
|
rs370978230
|
0.00005
|
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala)
|
rs144031245
|
0.00005
|
NM_052867.4(NALCN):c.1765-6T>G
|
rs370198465
|
0.00005
|
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu)
|
rs746690413
|
0.00005
|
NM_080680.3(COL11A2):c.2591C>A (p.Ser864Tyr)
|
rs373490721
|
0.00005
|
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)
|
rs548592690
|
0.00005
|
NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=)
|
rs771644818
|
0.00005
|
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys)
|
rs758248456
|
0.00005
|
NM_138691.3(TMC1):c.885-11T>C
|
rs768694342
|
0.00005
|
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)
|
rs201104489
|
0.00005
|
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)
|
rs3796241
|
0.00005
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
NM_183357.3(ADCY5):c.2564C>T (p.Thr855Met)
|
rs138954200
|
0.00005
|
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln)
|
rs147978393
|
0.00005
|
NM_198904.4(GABRG2):c.549-3T>G
|
rs750459631
|
0.00005
|
NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=)
|
rs762004358
|
0.00005
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)
|
rs749205073
|
0.00004
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)
|
rs199648202
|
0.00004
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)
|
rs375788705
|
0.00004
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)
|
rs148618542
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
rs80358865
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
NM_000062.3(SERPING1):c.826C>T (p.Arg276Trp)
|
rs768520560
|
0.00004
|
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)
|
rs372668776
|
0.00004
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)
|
rs775009783
|
0.00004
|
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)
|
rs201463541
|
0.00004
|
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
|
rs368421264
|
0.00004
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
0.00004
|
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)
|
rs527702358
|
0.00004
|
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)
|
rs767571919
|
0.00004
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)
|
rs767399660
|
0.00004
|
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)
|
rs765336013
|
0.00004
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
NM_000091.5(COL4A3):c.672A>G (p.Gly224=)
|
rs375059614
|
0.00004
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000143.4(FH):c.302G>A (p.Arg101Gln)
|
rs75086406
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000179.3(MSH6):c.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)
|
rs147026529
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1869C>T
|
rs62492438
|
0.00004
|
NM_000238.4(KCNH2):c.2398+156G>A
|
rs139247073
|
0.00004
|
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val)
|
rs765427343
|
0.00004
|
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)
|
rs199473021
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val)
|
rs778161908
|
0.00004
|
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val)
|
rs730880594
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)
|
rs782546306
|
0.00004
|
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
|
rs374575441
|
0.00004
|
NM_000264.5(PTCH1):c.1067+5G>C
|
rs372657547
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)
|
rs199473147
|
0.00004
|
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp)
|
rs192379242
|
0.00004
|
NM_000335.5(SCN5A):c.43A>G (p.Arg15Gly)
|
rs752553088
|
0.00004
|
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)
|
rs41311087
|
0.00004
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
NM_000338.3(SLC12A1):c.2278G>A (p.Val760Ile)
|
rs763036680
|
0.00004
|
NM_000384.3(APOB):c.12695A>G (p.Tyr4232Cys)
|
rs767269509
|
0.00004
|
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr)
|
rs565355765
|
0.00004
|
NM_000428.3(LTBP2):c.2119A>C (p.Ser707Arg)
|
rs145201197
|
0.00004
|
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)
|
rs553752236
|
0.00004
|
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val)
|
rs145003921
|
0.00004
|
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys)
|
rs200067774
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
|
rs121912654
|
0.00004
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)
|
rs397514968
|
0.00004
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
NM_001025295.3(IFITM5):c.21C>T (p.Arg7=)
|
rs755699416
|
0.00004
|
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)
|
rs782792216
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)
|
rs200850285
|
0.00004
|
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr)
|
rs774276326
|
0.00004
|
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu)
|
rs746954414
|
0.00004
|
NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=)
|
rs370278575
|
0.00004
|
NM_001042472.3(ABHD12):c.540C>T (p.Thr180=)
|
rs777592249
|
0.00004
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)
|
rs146044717
|
0.00004
|
NM_001083961.2(WDR62):c.3733C>A (p.Leu1245Met)
|
rs763947043
|
0.00004
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr)
|
rs727503113
|
0.00004
|
NM_001128840.3(CACNA1D):c.6217C>T (p.Arg2073Cys)
|
rs140215004
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met)
|
rs370472530
|
0.00004
|
NM_001148.6(ANK2):c.10945A>G (p.Met3649Val)
|
rs145856327
|
0.00004
|
NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu)
|
rs886059014
|
0.00004
|
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)
|
rs140189724
|
0.00004
|
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)
|
rs758054052
|
0.00004
|
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)
|
rs562115547
|
0.00004
|
NM_001148.6(ANK2):c.8041C>G (p.Leu2681Val)
|
rs1489919946
|
0.00004
|
NM_001160372.4(TRAPPC9):c.2704C>T (p.Arg902Trp)
|
rs370626310
|
0.00004
|
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile)
|
rs556313656
|
0.00004
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)
|
rs773746281
|
0.00004
|
NM_001286577.2(C2CD3):c.5612T>G (p.Leu1871Arg)
|
rs766845407
|
0.00004
|
NM_001349338.3(FOXP1):c.1359G>A (p.Ala453=)
|
rs766683691
|
0.00004
|
NM_001365999.1(SZT2):c.10156-13G>A
|
rs554300793
|
0.00004
|
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)
|
rs371193436
|
0.00004
|
NM_001367624.2(ZNF469):c.4223C>T (p.Pro1408Leu)
|
rs770568316
|
0.00004
|
NM_001367624.2(ZNF469):c.4433C>G (p.Ser1478Cys)
|
rs751396157
|
0.00004
|
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr)
|
rs1001497433
|
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.4068C>T (p.Asn1356=)
|
rs542486327
|
0.00004
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
|
rs199967386
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)
|
rs782296172
|
0.00004
|
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=)
|
rs941116789
|
0.00004
|
NM_001457.4(FLNB):c.3661A>G (p.Lys1221Glu)
|
rs537630384
|
0.00004
|
NM_001457.4(FLNB):c.3784G>A (p.Gly1262Arg)
|
rs139932035
|
0.00004
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
NM_001458.5(FLNC):c.6390C>T (p.Gly2130=)
|
rs746751083
|
0.00004
|
NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu)
|
rs201432154
|
0.00004
|
NM_001822.7(CHN1):c.550-5C>T
|
rs760529847
|
0.00004
|
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr)
|
rs762355724
|
0.00004
|
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser)
|
rs769590506
|
0.00004
|
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)
|
rs141418421
|
0.00004
|
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)
|
rs752749747
|
0.00004
|
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)
|
rs534777436
|
0.00004
|
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn)
|
rs762668220
|
0.00004
|
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)
|
rs749003514
|
0.00004
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val)
|
rs138507620
|
0.00004
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)
|
rs199576799
|
0.00004
|
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr)
|
rs777664906
|
0.00004
|
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu)
|
rs945959591
|
0.00004
|
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr)
|
rs779346604
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
|
rs201046640
|
0.00004
|
NM_001943.5(DSG2):c.2004G>A (p.Val668=)
|
rs773645222
|
0.00004
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
NM_001953.5(TYMP):c.647-9C>G
|
rs549324764
|
0.00004
|
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.115A>G (p.Ser39Gly)
|
rs782211863
|
0.00004
|
NM_002230.4(JUP):c.1280C>T (p.Thr427Met)
|
rs781982717
|
0.00004
|
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)
|
rs781883243
|
0.00004
|
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)
|
rs781804177
|
0.00004
|
NM_002317.7(LOX):c.1222T>C (p.Tyr408His)
|
rs765126342
|
0.00004
|
NM_002439.5(MSH3):c.1653+4A>G
|
rs373786812
|
0.00004
|
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)
|
rs535649291
|
0.00004
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser)
|
rs763280025
|
0.00004
|
NM_002528.7(NTHL1):c.111A>G (p.Ala37=)
|
rs779229970
|
0.00004
|
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala)
|
rs753974933
|
0.00004
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
NM_002700.3(POU4F3):c.405G>A (p.Pro135=)
|
rs145372405
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)
|
rs730881007
|
0.00004
|
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly)
|
rs150054973
|
0.00004
|
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys)
|
rs370631681
|
0.00004
|
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp)
|
rs201763667
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp)
|
rs368943553
|
0.00004
|
NM_003477.3(PDHX):c.1239A>T (p.Gly413=)
|
rs148758785
|
0.00004
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)
|
rs202109365
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
NM_004525.3(LRP2):c.2813G>A (p.Arg938Gln)
|
rs372927481
|
0.00004
|
NM_004646.4(NPHS1):c.609-10C>T
|
rs763508503
|
0.00004
|
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys)
|
rs749846538
|
0.00004
|
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)
|
rs764612223
|
0.00004
|
NM_005138.3(SCO2):c.752C>T (p.Ser251Leu)
|
rs768228804
|
0.00004
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met)
|
rs779401654
|
0.00004
|
NM_005422.4(TECTA):c.2064G>A (p.Lys688=)
|
rs375140632
|
0.00004
|
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu)
|
rs151296951
|
0.00004
|
NM_005422.4(TECTA):c.3742C>T (p.Pro1248Ser)
|
rs202223574
|
0.00004
|
NM_005422.4(TECTA):c.45C>T (p.Phe15=)
|
rs756460108
|
0.00004
|
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=)
|
rs375637572
|
0.00004
|
NM_005612.5(REST):c.2318A>G (p.Gln773Arg)
|
rs199816806
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp)
|
rs772669837
|
0.00004
|
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)
|
rs573775230
|
0.00004
|
NM_006059.4(LAMC3):c.3566C>T (p.Ala1189Val)
|
rs369839636
|
0.00004
|
NM_006059.4(LAMC3):c.686T>C (p.Val229Ala)
|
rs149485800
|
0.00004
|
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu)
|
rs781360770
|
0.00004
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln)
|
rs754518522
|
0.00004
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
NM_006231.4(POLE):c.912C>T (p.Gly304=)
|
rs1064794932
|
0.00004
|
NM_006361.6(HOXB13):c.602-7C>A
|
rs370167148
|
0.00004
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
NM_006514.4(SCN10A):c.3156A>G (p.Thr1052=)
|
rs777642089
|
0.00004
|
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser)
|
rs753999434
|
0.00004
|
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val)
|
rs759267222
|
0.00004
|
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr)
|
rs756205069
|
0.00004
|
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp)
|
rs773155491
|
0.00004
|
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His)
|
rs145750214
|
0.00004
|
NM_006947.4(SRP72):c.40C>T (p.Leu14=)
|
rs779131373
|
0.00004
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007215.4(POLG2):c.865C>G (p.Leu289Val)
|
rs530697513
|
0.00004
|
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys)
|
rs201489289
|
0.00004
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00004
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)
|
rs145466894
|
0.00004
|
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)
|
rs773433679
|
0.00004
|
NM_007325.5(GRIA3):c.419A>G (p.Gln140Arg)
|
rs771205448
|
0.00004
|
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile)
|
rs148170370
|
0.00004
|
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)
|
rs751176093
|
0.00004
|
NM_014391.3(ANKRD1):c.545G>A (p.Arg182His)
|
rs530739375
|
0.00004
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met)
|
rs781358846
|
0.00004
|
NM_014915.3(ANKRD26):c.1565-4T>C
|
rs747570982
|
0.00004
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)
|
rs72552294
|
0.00004
|
NM_015340.4(LARS2):c.944C>T (p.Ser315Leu)
|
rs755162646
|
0.00004
|
NM_015378.4(VPS13D):c.7722G>C (p.Leu2574=)
|
rs746257631
|
0.00004
|
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)
|
rs377736535
|
0.00004
|
NM_016222.4(DDX41):c.1308C>T (p.Leu436=)
|
rs767835537
|
0.00004
|
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=)
|
rs370047914
|
0.00004
|
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His)
|
rs374249526
|
0.00004
|
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu)
|
rs376939609
|
0.00004
|
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp)
|
rs770104934
|
0.00004
|
NM_016953.4(PDE11A):c.229G>A (p.Gly77Arg)
|
rs777448999
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
NM_018896.5(CACNA1G):c.2128A>T (p.Ser710Cys)
|
rs543673731
|
0.00004
|
NM_020297.4(ABCC9):c.1455+4A>C
|
rs376587222
|
0.00004
|
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr)
|
rs373750743
|
0.00004
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)
|
rs765455172
|
0.00004
|
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)
|
rs375781856
|
0.00004
|
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys)
|
rs555430482
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)
|
rs147956904
|
0.00004
|
NM_024876.4(COQ8B):c.298G>T (p.Val100Leu)
|
rs745669537
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00004
|
NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile)
|
rs745477465
|
0.00004
|
NM_032119.4(ADGRV1):c.212A>G (p.Tyr71Cys)
|
rs530533430
|
0.00004
|
NM_032119.4(ADGRV1):c.2524T>G (p.Leu842Val)
|
rs370265583
|
0.00004
|
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)
|
rs199735068
|
0.00004
|
NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu)
|
rs772605124
|
0.00004
|
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg)
|
rs573684358
|
0.00004
|
NM_032608.7(MYO18B):c.2677G>T (p.Asp893Tyr)
|
rs372933587
|
0.00004
|
NM_032888.4(COL27A1):c.296C>T (p.Ala99Val)
|
rs150759476
|
0.00004
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser)
|
rs751927717
|
0.00004
|
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)
|
rs779116250
|
0.00004
|
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln)
|
rs761524468
|
0.00004
|
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn)
|
rs772537556
|
0.00004
|
NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser)
|
rs142500487
|
0.00004
|
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)
|
rs758507327
|
0.00004
|
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)
|
rs201315111
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro)
|
rs150982987
|
0.00004
|
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)
|
rs772090345
|
0.00004
|
NM_133261.3(GIPC3):c.213C>A (p.Ile71=)
|
rs876657467
|
0.00004
|
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)
|
rs776361113
|
0.00004
|
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)
|
rs149892167
|
0.00004
|
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr)
|
rs369255684
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)
|
rs141423405
|
0.00004
|
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser)
|
rs199620361
|
0.00004
|
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser)
|
rs150244426
|
0.00004
|
NM_183357.3(ADCY5):c.1127_1129del (p.Leu376_Lys377delinsGln)
|
rs765952713
|
0.00004
|
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr)
|
rs754508360
|
0.00004
|
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser)
|
rs140023414
|
0.00004
|
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His)
|
rs368633281
|
0.00004
|
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met)
|
rs749384668
|
0.00004
|
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val)
|
rs782360547
|
0.00004
|
NM_203486.3(DLL3):c.531C>T (p.Arg177=)
|
rs1013696397
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.7429G>A (p.Asp2477Asn)
|
rs772852467
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_000038.6(APC):c.1405C>T (p.Leu469=)
|
rs746293695
|
0.00003
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)
|
rs766739164
|
0.00003
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
NM_000059.4(BRCA2):c.632-13T>G
|
rs775947267
|
0.00003
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)
|
rs80359167
|
0.00003
|
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)
|
rs760674518
|
0.00003
|
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)
|
rs774884290
|
0.00003
|
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)
|
rs749856222
|
0.00003
|
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)
|
rs141521945
|
0.00003
|
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)
|
rs761895918
|
0.00003
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
|
rs758740269
|
0.00003
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
NM_000123.4(ERCC5):c.2898C>T (p.Phe966=)
|
rs535585040
|
0.00003
|
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile)
|
rs201813523
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000143.4(FH):c.40C>T (p.Leu14Phe)
|
rs981562354
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)
|
rs199473644
|
0.00003
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1830C>T
|
rs778819756
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr)
|
rs201046979
|
0.00003
|
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
|
rs782726270
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=)
|
rs569293775
|
0.00003
|
NM_000260.4(MYO7A):c.4009G>A (p.Glu1337Lys)
|
rs369375331
|
0.00003
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
0.00003
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
NM_000335.5(SCN5A):c.3517C>T (p.Arg1173Trp)
|
rs367906630
|
0.00003
|
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)
|
rs137854603
|
0.00003
|
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser)
|
rs758090662
|
0.00003
|
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)
|
rs200708414
|
0.00003
|
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu)
|
rs768045701
|
0.00003
|
NM_000391.4(TPP1):c.891G>T (p.Arg297=)
|
rs750527536
|
0.00003
|
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)
|
rs376950447
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser)
|
rs372203483
|
0.00003
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
|
rs779000871
|
0.00003
|
NM_000551.4(VHL):c.463+4C>T
|
rs879253989
|
0.00003
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn)
|
rs771549676
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
NM_001003841.3(SLC6A19):c.1017-13A>G
|
rs202017164
|
0.00003
|
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val)
|
rs781135139
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp)
|
rs782319667
|
0.00003
|
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)
|
rs200218956
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly)
|
rs140606121
|
0.00003
|
NM_001148.6(ANK2):c.6205C>T (p.Arg2069Cys)
|
rs754572911
|
0.00003
|
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=)
|
rs201397661
|
0.00003
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln)
|
rs183648123
|
0.00003
|
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala)
|
rs139302994
|
0.00003
|
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn)
|
rs200257048
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys)
|
rs752764827
|
0.00003
|
NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)
|
rs367580862
|
0.00003
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
NM_001267550.2(TTN):c.96708A>G (p.Gly32236=)
|
rs752066259
|
0.00003
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys)
|
rs1064796541
|
0.00003
|
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)
|
rs369793136
|
0.00003
|
NM_001367624.2(ZNF469):c.2123C>T (p.Ala708Val)
|
rs1327795344
|
0.00003
|
NM_001367624.2(ZNF469):c.3550G>A (p.Ala1184Thr)
|
rs553460850
|
0.00003
|
NM_001367624.2(ZNF469):c.6461C>T (p.Pro2154Leu)
|
rs950986305
|
0.00003
|
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)
|
rs199637120
|
0.00003
|
NM_001457.4(FLNB):c.1249G>A (p.Val417Met)
|
rs146583950
|
0.00003
|
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala)
|
rs147481678
|
0.00003
|
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr)
|
rs370716086
|
0.00003
|
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)
|
rs573984029
|
0.00003
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=)
|
rs781062223
|
0.00003
|
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val)
|
rs374450416
|
0.00003
|
NM_001844.5(COL2A1):c.506C>A (p.Pro169His)
|
rs746108926
|
0.00003
|
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)
|
rs529770550
|
0.00003
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
NM_001853.4(COL9A3):c.1570C>T (p.Arg524Cys)
|
rs368767002
|
0.00003
|
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)
|
rs199942159
|
0.00003
|
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser)
|
rs1156500992
|
0.00003
|
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val)
|
rs775644641
|
0.00003
|
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu)
|
rs958678153
|
0.00003
|
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)
|
rs750838060
|
0.00003
|
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg)
|
rs986400534
|
0.00003
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)
|
rs369755953
|
0.00003
|
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)
|
rs782261124
|
0.00003
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
NM_002317.7(LOX):c.697A>G (p.Met233Val)
|
rs764007081
|
0.00003
|
NM_002335.4(LRP5):c.2241G>A (p.Leu747=)
|
rs867927445
|
0.00003
|
NM_002439.5(MSH3):c.582C>G (p.Asp194Glu)
|
rs749446559
|
0.00003
|
NM_002470.4(MYH3):c.593C>T (p.Thr198Ile)
|
rs750773513
|
0.00003
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
NM_002473.6(MYH9):c.209A>C (p.Asp70Ala)
|
rs764768999
|
0.00003
|
NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)
|
rs775685559
|
0.00003
|
NM_002528.7(NTHL1):c.686-7C>G
|
rs529341502
|
0.00003
|
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr)
|
rs369210646
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_002907.4(RECQL):c.868-2A>G
|
rs571176607
|
0.00003
|
NM_003000.3(SDHB):c.-6G>A
|
rs2295056
|
0.00003
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00003
|
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)
|
rs786205848
|
0.00003
|
NM_003283.6(TNNT1):c.47-6C>G
|
rs375682055
|
0.00003
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004183.4(BEST1):c.1133A>G (p.Asn378Ser)
|
rs199998058
|
0.00003
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
NM_004360.5(CDH1):c.833-3C>T
|
rs587782839
|
0.00003
|
NM_004553.6(NDUFS6):c.262G>A (p.Asp88Asn)
|
rs747442701
|
0.00003
|
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg)
|
rs758987045
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)
|
rs555093382
|
0.00003
|
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)
|
rs544565016
|
0.00003
|
NM_005559.4(LAMA1):c.126C>T (p.Gly42=)
|
rs540825771
|
0.00003
|
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)
|
rs782551106
|
0.00003
|
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr)
|
rs797045971
|
0.00003
|
NM_006005.3(WFS1):c.143C>T (p.Ala48Val)
|
rs397517195
|
0.00003
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
NM_006059.4(LAMC3):c.4348C>T (p.Arg1450Cys)
|
rs201785610
|
0.00003
|
NM_006059.4(LAMC3):c.4477+3A>G
|
rs202112145
|
0.00003
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala)
|
rs952211002
|
0.00003
|
NM_006231.4(POLE):c.-47G>T
|
rs1014146082
|
0.00003
|
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn)
|
rs753660907
|
0.00003
|
NM_006231.4(POLE):c.2016G>A (p.Arg672=)
|
rs991583405
|
0.00003
|
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr)
|
rs868832791
|
0.00003
|
NM_006231.4(POLE):c.4050C>T (p.Leu1350=)
|
rs764888601
|
0.00003
|
NM_006231.4(POLE):c.5313G>A (p.Thr1771=)
|
rs201803493
|
0.00003
|
NM_006231.4(POLE):c.6408C>T (p.Gly2136=)
|
rs1057524549
|
0.00003
|
NM_006245.4(PPP2R5D):c.327G>A (p.Ser109=)
|
rs573662782
|
0.00003
|
NM_006361.6(HOXB13):c.122C>T (p.Thr41Met)
|
rs199799743
|
0.00003
|
NM_006420.3(ARFGEF2):c.5238C>T (p.Asp1746=)
|
rs371687802
|
0.00003
|
NM_006514.4(SCN10A):c.2026G>A (p.Val676Met)
|
rs576503650
|
0.00003
|
NM_006514.4(SCN10A):c.232C>T (p.Pro78Ser)
|
rs753292241
|
0.00003
|
NM_006514.4(SCN10A):c.4878G>A (p.Met1626Ile)
|
rs371337228
|
0.00003
|
NM_006514.4(SCN10A):c.5144A>C (p.Asn1715Thr)
|
rs777258179
|
0.00003
|
NM_006514.4(SCN10A):c.5365G>A (p.Asp1789Asn)
|
rs375735101
|
0.00003
|
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp)
|
rs369777293
|
0.00003
|
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys)
|
rs61753681
|
0.00003
|
NM_007118.4(TRIO):c.4146G>A (p.Met1382Ile)
|
rs372498676
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp)
|
rs370053420
|
0.00003
|
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln)
|
rs780165350
|
0.00003
|
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp)
|
rs778098806
|
0.00003
|
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys)
|
rs535441567
|
0.00003
|
NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=)
|
rs763372824
|
0.00003
|
NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr)
|
rs759782529
|
0.00003
|
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln)
|
rs763813233
|
0.00003
|
NM_020320.5(RARS2):c.916G>A (p.Asp306Asn)
|
rs781646725
|
0.00003
|
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val)
|
rs747312867
|
0.00003
|
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His)
|
rs746125587
|
0.00003
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
NM_020975.6(RET):c.2298G>A (p.Pro766=)
|
rs140658743
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro)
|
rs111033475
|
0.00003
|
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)
|
rs528880720
|
0.00003
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_024915.4(GRHL2):c.987G>A (p.Gln329=)
|
rs200745936
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys)
|
rs766464017
|
0.00003
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
0.00003
|
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)
|
rs375258567
|
0.00003
|
NM_032119.4(ADGRV1):c.15698T>C (p.Met5233Thr)
|
rs750968239
|
0.00003
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
NM_032119.4(ADGRV1):c.3212G>A (p.Ser1071Asn)
|
rs752410892
|
0.00003
|
NM_032119.4(ADGRV1):c.4658G>A (p.Arg1553His)
|
rs369994629
|
0.00003
|
NM_032119.4(ADGRV1):c.664G>A (p.Asp222Asn)
|
rs763872010
|
0.00003
|
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)
|
rs147401037
|
0.00003
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=)
|
rs754237697
|
0.00003
|
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser)
|
rs768641511
|
0.00003
|
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val)
|
rs768478427
|
0.00003
|
NM_053025.4(MYLK):c.344G>A (p.Arg115His)
|
rs141131535
|
0.00003
|
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met)
|
rs374662467
|
0.00003
|
NM_057176.3(BSND):c.917T>C (p.Leu306Pro)
|
rs139049536
|
0.00003
|
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)
|
rs376403182
|
0.00003
|
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp)
|
rs144862714
|
0.00003
|
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)
|
rs764998691
|
0.00003
|
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu)
|
rs771092817
|
0.00003
|
NM_080680.3(COL11A2):c.3064G>A (p.Ala1022Thr)
|
rs1398107304
|
0.00003
|
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)
|
rs773329088
|
0.00003
|
NM_080680.3(COL11A2):c.3985G>A (p.Glu1329Lys)
|
rs774304709
|
0.00003
|
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg)
|
rs571981688
|
0.00003
|
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met)
|
rs747064765
|
0.00003
|
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)
|
rs148443938
|
0.00003
|
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val)
|
rs140778310
|
0.00003
|
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)
|
rs750329453
|
0.00003
|
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)
|
rs141163928
|
0.00003
|
NM_177438.3(DICER1):c.4740G>T (p.Gln1580His)
|
rs369465519
|
0.00003
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg)
|
rs557350925
|
0.00003
|
NM_183357.3(ADCY5):c.203G>C (p.Arg68Pro)
|
rs776480737
|
0.00003
|
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr)
|
rs771560305
|
0.00003
|
NM_194248.3(OTOF):c.1713G>A (p.Leu571=)
|
rs397517935
|
0.00003
|
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
|
rs774530840
|
0.00003
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
0.00003
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile)
|
rs397518050
|
0.00003
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)
|
rs374597207
|
0.00002
|
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)
|
rs33941929
|
0.00002
|
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)
|
rs587783036
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)
|
rs150355232
|
0.00002
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg)
|
rs1064793927
|
0.00002
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
rs41293505
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
rs55835607
|
0.00002
|
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)
|
rs553739117
|
0.00002
|
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp)
|
rs561979536
|
0.00002
|
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)
|
rs1224786667
|
0.00002
|
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)
|
rs138265497
|
0.00002
|
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)
|
rs375704313
|
0.00002
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
NM_000077.5(CDKN2A):c.198C>T (p.His66=)
|
rs374984975
|
0.00002
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)
|
rs750707504
|
0.00002
|
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=)
|
rs374935235
|
0.00002
|
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly)
|
rs778458961
|
0.00002
|
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)
|
rs571869797
|
0.00002
|
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile)
|
rs368105222
|
0.00002
|
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)
|
rs863223481
|
0.00002
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=)
|
rs774007712
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)
|
rs727505060
|
0.00002
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000213.5(ITGB4):c.5301C>T (p.His1767=)
|
rs963564866
|
0.00002
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln)
|
rs199473670
|
0.00002
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met)
|
rs569740494
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000257.4(MYH7):c.154G>A (p.Val52Met)
|
rs730880919
|
0.00002
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)
|
rs397516182
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_000260.4(MYO7A):c.2149G>A (p.Asp717Asn)
|
rs782696212
|
0.00002
|
NM_000260.4(MYO7A):c.5166C>T (p.Phe1722=)
|
rs566614598
|
0.00002
|
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)
|
rs760544219
|
0.00002
|
NM_000260.4(MYO7A):c.5547C>A (p.Ile1849=)
|
rs548939171
|
0.00002
|
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln)
|
rs199473049
|
0.00002
|
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala)
|
rs759036311
|
0.00002
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
NM_000368.5(TSC1):c.379G>A (p.Val127Ile)
|
rs372215435
|
0.00002
|
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)
|
rs775217501
|
0.00002
|
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
NM_000460.4(THPO):c.9G>A (p.Leu3=)
|
rs577831346
|
0.00002
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
NM_000478.6(ALPL):c.306C>T (p.Asn102=)
|
rs1015578994
|
0.00002
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
NM_000540.3(RYR1):c.11443A>T (p.Met3815Leu)
|
rs368909156
|
0.00002
|
NM_000540.3(RYR1):c.7027+4A>T
|
rs753538619
|
0.00002
|
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr)
|
rs185021599
|
0.00002
|
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)
|
rs201049603
|
0.00002
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
NM_001035.3(RYR2):c.6726G>A (p.Val2242=)
|
rs767246962
|
0.00002
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile)
|
rs754215948
|
0.00002
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys)
|
rs1054331
|
0.00002
|
NM_001080442.3(SLC38A8):c.633-5T>G
|
rs778342318
|
0.00002
|
NM_001080517.3(SETD5):c.3656A>G (p.Glu1219Gly)
|
rs1052957698
|
0.00002
|
NM_001083961.2(WDR62):c.1479C>T (p.Ala493=)
|
rs150656878
|
0.00002
|
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=)
|
rs189019392
|
0.00002
|
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr)
|
rs781943786
|
0.00002
|
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)
|
rs372113435
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001145809.2(MYH14):c.5566C>T (p.Arg1856Trp)
|
rs539875477
|
0.00002
|
NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val)
|
rs371358639
|
0.00002
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro)
|
rs763795429
|
0.00002
|
NM_001148.6(ANK2):c.8182G>A (p.Glu2728Lys)
|
rs756424757
|
0.00002
|
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys)
|
rs371343942
|
0.00002
|
NM_001148.6(ANK2):c.9842A>G (p.Gln3281Arg)
|
rs1306812632
|
0.00002
|
NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro)
|
rs1064795811
|
0.00002
|
NM_001197104.2(KMT2A):c.5665-10T>C
|
rs1401608038
|
0.00002
|
NM_001205293.3(CACNA1E):c.312C>T (p.Ile104=)
|
rs760287778
|
0.00002
|
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)
|
rs201096167
|
0.00002
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys)
|
rs760487688
|
0.00002
|
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile)
|
rs759432194
|
0.00002
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
NM_001291303.3(FAT4):c.14169G>T (p.Leu4723Phe)
|
rs760377475
|
0.00002
|
NM_001291303.3(FAT4):c.4964G>A (p.Ser1655Asn)
|
rs572010193
|
0.00002
|
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile)
|
rs1014543362
|
0.00002
|
NM_001365276.2(TNXB):c.3637G>A (p.Val1213Ile)
|
rs774582576
|
0.00002
|
NM_001365276.2(TNXB):c.7774G>A (p.Gly2592Ser)
|
rs767643312
|
0.00002
|
NM_001365276.2(TNXB):c.9080A>G (p.Gln3027Arg)
|
rs767216957
|
0.00002
|
NM_001367624.2(ZNF469):c.10543G>A (p.Val3515Met)
|
rs535466651
|
0.00002
|
NM_001367624.2(ZNF469):c.3030C>G (p.Pro1010=)
|
rs1245818626
|
0.00002
|
NM_001367624.2(ZNF469):c.5564A>G (p.Asn1855Ser)
|
rs1196406851
|
0.00002
|
NM_001367624.2(ZNF469):c.61C>T (p.Arg21Cys)
|
rs754101639
|
0.00002
|
NM_001367624.2(ZNF469):c.664G>A (p.Gly222Ser)
|
rs975247998
|
0.00002
|
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)
|
rs201897431
|
0.00002
|
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)
|
rs755542969
|
0.00002
|
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly)
|
rs12422945
|
0.00002
|
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val)
|
rs774172292
|
0.00002
|
NM_001384732.1(CPLANE1):c.4246G>A (p.Val1416Met)
|
rs376365094
|
0.00002
|
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala)
|
rs773177128
|
0.00002
|
NM_001457.4(FLNB):c.1897A>G (p.Met633Val)
|
rs937051879
|
0.00002
|
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu)
|
rs762991925
|
0.00002
|
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)
|
rs200947960
|
0.00002
|
NM_001457.4(FLNB):c.5188G>A (p.Glu1730Lys)
|
rs773991765
|
0.00002
|
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=)
|
rs556913973
|
0.00002
|
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)
|
rs150986092
|
0.00002
|
NM_001692.4(ATP6V1B1):c.1089G>A (p.Thr363=)
|
rs782584396
|
0.00002
|
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln)
|
rs765231668
|
0.00002
|
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His)
|
rs766574999
|
0.00002
|
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn)
|
rs976006680
|
0.00002
|
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly)
|
rs780375782
|
0.00002
|
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser)
|
rs886626700
|
0.00002
|
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys)
|
rs762357071
|
0.00002
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln)
|
rs745349011
|
0.00002
|
NM_001853.4(COL9A3):c.1282G>A (p.Asp428Asn)
|
rs562245450
|
0.00002
|
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys)
|
rs761451204
|
0.00002
|
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=)
|
rs942911563
|
0.00002
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)
|
rs753947676
|
0.00002
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)
|
rs377115843
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002880.4(RAF1):c.934G>A (p.Val312Met)
|
rs555034652
|
0.00002
|
NM_003742.4(ABCB11):c.2453A>T (p.Tyr818Phe)
|
rs374548469
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
NM_004958.4(MTOR):c.4612C>T (p.Arg1538Trp)
|
rs202187935
|
0.00002
|
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp)
|
rs748248329
|
0.00002
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
NM_005006.7(NDUFS1):c.502T>C (p.Leu168=)
|
rs759656684
|
0.00002
|
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)
|
rs780716382
|
0.00002
|
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)
|
rs149099078
|
0.00002
|
NM_006005.3(WFS1):c.2453G>A (p.Arg818His)
|
rs575851859
|
0.00002
|
NM_006086.4(TUBB3):c.813C>T (p.Ala271=)
|
rs776465410
|
0.00002
|
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser)
|
rs376546593
|
0.00002
|
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)
|
rs201738371
|
0.00002
|
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg)
|
rs563990655
|
0.00002
|
NM_006231.4(POLE):c.4006-8C>A
|
rs745486661
|
0.00002
|
NM_006231.4(POLE):c.910-5G>A
|
rs750101293
|
0.00002
|
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=)
|
rs766934707
|
0.00002
|
NM_006514.4(SCN10A):c.1397T>C (p.Val466Ala)
|
rs764168768
|
0.00002
|
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met)
|
rs145568435
|
0.00002
|
NM_006514.4(SCN10A):c.3796G>A (p.Gly1266Ser)
|
rs199892190
|
0.00002
|
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=)
|
rs370009707
|
0.00002
|
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala)
|
rs200759046
|
0.00002
|
NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu)
|
rs977221211
|
0.00002
|
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys)
|
rs754809056
|
0.00002
|
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val)
|
rs367960697
|
0.00002
|
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys)
|
rs149317715
|
0.00002
|
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu)
|
rs748137168
|
0.00002
|
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp)
|
rs764921928
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val)
|
rs561988641
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)
|
rs76475298
|
0.00002
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
NM_014727.3(KMT2B):c.5711C>T (p.Pro1904Leu)
|
rs777489488
|
0.00002
|
NM_014915.3(ANKRD26):c.501G>T (p.Leu167Phe)
|
rs183398279
|
0.00002
|
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys)
|
rs143486835
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg)
|
rs1462012083
|
0.00002
|
NM_016239.4(MYO15A):c.9023C>T (p.Pro3008Leu)
|
rs765934820
|
0.00002
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys)
|
rs776897967
|
0.00002
|
NM_020778.5(ALPK3):c.186C>T (p.Ser62=)
|
rs116058119
|
0.00002
|
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln)
|
rs116079740
|
0.00002
|
NM_020821.3(VPS13C):c.3052-5T>G
|
rs372141774
|
0.00002
|
NM_020975.6(RET):c.1941C>T (p.Ile647=)
|
rs75225191
|
0.00002
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00002
|
NM_021830.5(TWNK):c.1021C>T (p.Arg341Cys)
|
rs566579080
|
0.00002
|
NM_022124.6(CDH23):c.1317C>T (p.Asp439=)
|
rs748828988
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)
|
rs370799450
|
0.00002
|
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val)
|
rs781928056
|
0.00002
|
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr)
|
rs782688724
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
NM_032119.4(ADGRV1):c.12485T>C (p.Ile4162Thr)
|
rs370746571
|
0.00002
|
NM_032119.4(ADGRV1):c.12767A>T (p.Asn4256Ile)
|
rs750752068
|
0.00002
|
NM_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln)
|
rs767181564
|
0.00002
|
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
|
rs201953675
|
0.00002
|
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)
|
rs768299251
|
0.00002
|
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)
|
rs757218098
|
0.00002
|
NM_032119.4(ADGRV1):c.3838G>A (p.Asp1280Asn)
|
rs184031236
|
0.00002
|
NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp)
|
rs771132013
|
0.00002
|
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met)
|
rs727505056
|
0.00002
|
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg)
|
rs727505041
|
0.00002
|
NM_052867.4(NALCN):c.249G>A (p.Thr83=)
|
rs145910377
|
0.00002
|
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)
|
rs763353781
|
0.00002
|
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=)
|
rs1057523680
|
0.00002
|
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)
|
rs373168555
|
0.00002
|
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)
|
rs751888761
|
0.00002
|
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)
|
rs768902062
|
0.00002
|
NM_080680.3(COL11A2):c.3529-3C>T
|
rs753183777
|
0.00002
|
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)
|
rs751612997
|
0.00002
|
NM_080680.3(COL11A2):c.4010C>T (p.Ala1337Val)
|
rs756855492
|
0.00002
|
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu)
|
rs758796613
|
0.00002
|
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu)
|
rs764154647
|
0.00002
|
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)
|
rs568840295
|
0.00002
|
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp)
|
rs752296610
|
0.00002
|
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr)
|
rs532878175
|
0.00002
|
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
|
rs530896300
|
0.00002
|
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)
|
rs397517834
|
0.00002
|
NM_170682.4(P2RX2):c.1054G>A (p.Val352Ile)
|
rs775460016
|
0.00002
|
NM_177438.3(DICER1):c.184G>A (p.Val62Ile)
|
rs746671039
|
0.00002
|
NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp)
|
rs587778229
|
0.00002
|
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp)
|
rs727504985
|
0.00002
|
NM_198999.3(SLC26A5):c.636G>T (p.Gly212=)
|
rs770314412
|
0.00002
|
NM_000030.3(AGXT):c.743C>T (p.Ala248Val)
|
rs372482918
|
0.00001
|
NM_000038.6(APC):c.2642C>T (p.Ser881Phe)
|
rs535344579
|
0.00001
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
NM_000038.6(APC):c.3313C>T (p.Arg1105Trp)
|
rs768454793
|
0.00001
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu)
|
rs149828124
|
0.00001
|
NM_000038.6(APC):c.6403A>G (p.Ile2135Val)
|
rs757633174
|
0.00001
|
NM_000038.6(APC):c.7143A>C (p.Gln2381His)
|
rs756153152
|
0.00001
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)
|
rs754395517
|
0.00001
|
NM_000051.4(ATM):c.753G>A (p.Val251=)
|
rs876658806
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.1794A>G (p.Thr598=)
|
rs1159099773
|
0.00001
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
rs80358715
|
0.00001
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
NM_000059.4(BRCA2):c.636A>G (p.Arg212=)
|
rs950724350
|
0.00001
|
NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser)
|
rs768512381
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
rs80358973
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
NM_000069.3(CACNA1S):c.3256-9G>A
|
rs1294455750
|
0.00001
|
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)
|
rs533353353
|
0.00001
|
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)
|
rs772750589
|
0.00001
|
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=)
|
rs779002822
|
0.00001
|
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)
|
rs766461654
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)
|
rs752819997
|
0.00001
|
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)
|
rs754146345
|
0.00001
|
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=)
|
rs770449474
|
0.00001
|
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys)
|
rs753016038
|
0.00001
|
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)
|
rs759828394
|
0.00001
|
NM_000092.5(COL4A4):c.2407C>T (p.Leu803=)
|
rs762646235
|
0.00001
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.303A>T (p.Gly101=)
|
rs1450052915
|
0.00001
|
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro)
|
rs764494474
|
0.00001
|
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)
|
rs575575729
|
0.00001
|
NM_000097.7(CPOX):c.557-10C>G
|
rs1553696573
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
NM_000142.5(FGFR3):c.150C>T (p.Val50=)
|
rs750641928
|
0.00001
|
NM_000142.5(FGFR3):c.446-10C>T
|
rs762297923
|
0.00001
|
NM_000142.5(FGFR3):c.630G>A (p.Gln210=)
|
rs777091470
|
0.00001
|
NM_000143.4(FH):c.1390+6T>A
|
rs1338650106
|
0.00001
|
NM_000143.4(FH):c.219G>A (p.Val73=)
|
rs1213056420
|
0.00001
|
NM_000143.4(FH):c.414C>T (p.Leu138=)
|
rs540968725
|
0.00001
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln)
|
rs752839086
|
0.00001
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala)
|
rs1489132337
|
0.00001
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1860C>T
|
rs767264288
|
0.00001
|
NM_000238.4(KCNH2):c.2398+25G>T
|
rs761167679
|
0.00001
|
NM_000238.4(KCNH2):c.2398+98G>A
|
rs545247794
|
0.00001
|
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met)
|
rs754883792
|
0.00001
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
NM_000251.3(MSH2):c.105C>A (p.Arg35=)
|
rs775554736
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)
|
rs730880692
|
0.00001
|
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser)
|
rs397515918
|
0.00001
|
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr)
|
rs727504945
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu)
|
rs774540446
|
0.00001
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)
|
rs730880956
|
0.00001
|
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=)
|
rs970183279
|
0.00001
|
NM_000260.4(MYO7A):c.2487G>A (p.Val829=)
|
rs1452906057
|
0.00001
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
NM_000260.4(MYO7A):c.4993G>A (p.Asp1665Asn)
|
rs759272365
|
0.00001
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
NM_000260.4(MYO7A):c.5781C>T (p.Phe1927=)
|
rs1167983525
|
0.00001
|
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg)
|
rs560293591
|
0.00001
|
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)
|
rs774588125
|
0.00001
|
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu)
|
rs763881975
|
0.00001
|
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala)
|
rs199473571
|
0.00001
|
NM_000335.5(SCN5A):c.2379C>T (p.Leu793=)
|
rs758397582
|
0.00001
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
NM_000335.5(SCN5A):c.393-4G>A
|
rs1390882998
|
0.00001
|
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=)
|
rs187370816
|
0.00001
|
NM_000363.5(TNNI3):c.340A>G (p.Ile114Val)
|
rs730881070
|
0.00001
|
NM_000384.3(APOB):c.12343G>T (p.Val4115Phe)
|
rs765681925
|
0.00001
|
NM_000384.3(APOB):c.2398C>A (p.Leu800Met)
|
rs183950016
|
0.00001
|
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)
|
rs748345018
|
0.00001
|
NM_000391.4(TPP1):c.1671G>A (p.Leu557=)
|
rs777267276
|
0.00001
|
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)
|
rs751088292
|
0.00001
|
NM_000441.2(SLC26A4):c.1344G>A (p.Ser448=)
|
rs768687579
|
0.00001
|
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val)
|
rs759268252
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
NM_000458.4(HNF1B):c.66C>A (p.Thr22=)
|
rs906719754
|
0.00001
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
NM_000535.7(PMS2):c.27A>C (p.Thr9=)
|
rs1060504842
|
0.00001
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
NM_000540.3(RYR1):c.10398C>T (p.Asn3466=)
|
rs1335486327
|
0.00001
|
NM_000540.3(RYR1):c.12951G>A (p.Val4317=)
|
rs957481378
|
0.00001
|
NM_000540.3(RYR1):c.13122G>A (p.Val4374=)
|
rs797045930
|
0.00001
|
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
|
rs567084532
|
0.00001
|
NM_000540.3(RYR1):c.6016-5C>G
|
rs369996114
|
0.00001
|
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)
|
rs530885842
|
0.00001
|
NM_000546.6(TP53):c.221C>T (p.Ala74Val)
|
rs587781832
|
0.00001
|
NM_000546.6(TP53):c.949C>A (p.Gln317Lys)
|
rs764735889
|
0.00001
|
NM_000548.5(TSC2):c.5069-11A>G
|
rs562381623
|
0.00001
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)
|
rs774002530
|
0.00001
|
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)
|
rs761378545
|
0.00001
|
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=)
|
rs757290350
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)
|
rs535608443
|
0.00001
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)
|
rs753175954
|
0.00001
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile)
|
rs77106213
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042681.2(RERE):c.2461T>C (p.Ser821Pro)
|
rs897627996
|
0.00001
|
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu)
|
rs1057518295
|
0.00001
|
NM_001077653.2(TBX20):c.891-9C>G
|
rs761878149
|
0.00001
|
NM_001080449.3(DNA2):c.27G>A (p.Leu9=)
|
rs1211027535
|
0.00001
|
NM_001080517.3(SETD5):c.1260T>G (p.Ala420=)
|
rs931898655
|
0.00001
|
NM_001083961.2(WDR62):c.3463-9T>C
|
rs1346976662
|
0.00001
|
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp)
|
rs1016959427
|
0.00001
|
NM_001098511.3(KIF2A):c.1024G>A (p.Ala342Thr)
|
rs758143705
|
0.00001
|
NM_001101.5(ACTB):c.804C>T (p.Gly268=)
|
rs770089307
|
0.00001
|
NM_001105206.3(LAMA4):c.2146G>A (p.Val716Ile)
|
rs141742906
|
0.00001
|
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser)
|
rs542157463
|
0.00001
|
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)
|
rs782168634
|
0.00001
|
NM_001110792.2(MECP2):c.723G>T (p.Ser241=)
|
rs782461567
|
0.00001
|
NM_001113491.2(SEPTIN9):c.641C>T (p.Ala214Val)
|
rs200850474
|
0.00001
|
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)
|
rs769399113
|
0.00001
|
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala)
|
rs751675055
|
0.00001
|
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)
|
rs1755340949
|
0.00001
|
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=)
|
rs1332817040
|
0.00001
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
NM_001128840.3(CACNA1D):c.6395A>G (p.Asp2132Gly)
|
rs779549091
|
0.00001
|
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His)
|
rs1421547378
|
0.00001
|
NM_001145809.2(MYH14):c.3194G>A (p.Arg1065His)
|
rs769362736
|
0.00001
|
NM_001148.6(ANK2):c.1252G>A (p.Val418Met)
|
rs760073103
|
0.00001
|
NM_001148.6(ANK2):c.1986A>G (p.Gly662=)
|
rs765012746
|
0.00001
|
NM_001148.6(ANK2):c.4687A>C (p.Asn1563His)
|
rs1476737595
|
0.00001
|
NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)
|
rs372545180
|
0.00001
|
NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly)
|
rs771826064
|
0.00001
|
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)
|
rs777477439
|
0.00001
|
NM_001148.6(ANK2):c.8057T>C (p.Val2686Ala)
|
rs56095304
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp)
|
rs563050274
|
0.00001
|
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val)
|
rs756114192
|
0.00001
|
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=)
|
rs757851017
|
0.00001
|
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=)
|
rs919717592
|
0.00001
|
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)
|
rs369318229
|
0.00001
|
NM_001205293.3(CACNA1E):c.3719+6T>A
|
rs1656338337
|
0.00001
|
NM_001205293.3(CACNA1E):c.4606-3C>T
|
rs1037223207
|
0.00001
|
NM_001235.5(SERPINH1):c.393C>T (p.Gly131=)
|
rs760571465
|
0.00001
|
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=)
|
rs377333936
|
0.00001
|
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)
|
rs376029089
|
0.00001
|
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)
|
rs727504465
|
0.00001
|
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)
|
rs377074955
|
0.00001
|
NM_001267550.2(TTN):c.3414A>G (p.Glu1138=)
|
rs777365068
|
0.00001
|
NM_001267550.2(TTN):c.77978C>T (p.Pro25993Leu)
|
rs771646684
|
0.00001
|
NM_001267550.2(TTN):c.94053G>A (p.Ser31351=)
|
rs777229309
|
0.00001
|
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn)
|
rs748829883
|
0.00001
|
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu)
|
rs1557091552
|
0.00001
|
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys)
|
rs199822230
|
0.00001
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
NM_001278512.2(AP3B2):c.1053C>T (p.His351=)
|
rs1177973989
|
0.00001
|
NM_001286577.2(C2CD3):c.3196C>T (p.Leu1066Phe)
|
rs187512156
|
0.00001
|
NM_001291303.3(FAT4):c.2896A>G (p.Ile966Val)
|
rs778631726
|
0.00001
|
NM_001292063.2(OTOG):c.3124G>T (p.Asp1042Tyr)
|
rs973728066
|
0.00001
|
NM_001321759.2(CDIN1):c.26A>G (p.Asp9Gly)
|
rs369346271
|
0.00001
|
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu)
|
rs1198276041
|
0.00001
|
NM_001330311.2(DVL1):c.1716G>C (p.Gly572=)
|
rs773112898
|
0.00001
|
NM_001330574.2(ZNF711):c.1873C>T (p.Arg625Cys)
|
rs995774322
|
0.00001
|
NM_001349338.3(FOXP1):c.1964C>T (p.Ala655Val)
|
rs762475508
|
0.00001
|
NM_001349338.3(FOXP1):c.321C>T (p.Ile107=)
|
rs747108471
|
0.00001
|
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)
|
rs751045102
|
0.00001
|
NM_001365276.2(TNXB):c.6550G>A (p.Glu2184Lys)
|
rs754026612
|
0.00001
|
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)
|
rs574115531
|
0.00001
|
NM_001367624.2(ZNF469):c.1768G>A (p.Glu590Lys)
|
rs571115191
|
0.00001
|
NM_001367624.2(ZNF469):c.2661C>T (p.Ser887=)
|
rs1906033837
|
0.00001
|
NM_001367624.2(ZNF469):c.3040A>G (p.Arg1014Gly)
|
rs1408770467
|
0.00001
|
NM_001367624.2(ZNF469):c.7012G>A (p.Gly2338Ser)
|
rs772172396
|
0.00001
|
NM_001367624.2(ZNF469):c.7847G>A (p.Arg2616His)
|
rs368063668
|
0.00001
|
NM_001367624.2(ZNF469):c.9088G>A (p.Gly3030Ser)
|
rs773580012
|
0.00001
|
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)
|
rs751235198
|
0.00001
|
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys)
|
rs1361659361
|
0.00001
|
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)
|
rs758404089
|
0.00001
|
NM_001374385.1(ATP8B1):c.941-20A>G
|
rs1366870956
|
0.00001
|
NM_001374828.1(ARID1B):c.1220G>C (p.Gly407Ala)
|
rs1057522183
|
0.00001
|
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln)
|
rs774840535
|
0.00001
|
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)
|
rs879254018
|
0.00001
|
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile)
|
rs797045532
|
0.00001
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
NM_001378183.1(PIEZO2):c.470C>T (p.Pro157Leu)
|
rs1025310776
|
0.00001
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His)
|
rs867315415
|
0.00001
|
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=)
|
rs747929635
|
0.00001
|
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)
|
rs762528364
|
0.00001
|
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp)
|
rs761127806
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12491C>T
|
rs749001958
|
0.00001
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)
|
rs766541647
|
0.00001
|
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr)
|
rs886060584
|
0.00001
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val)
|
rs570950728
|
0.00001
|
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile)
|
rs201533113
|
0.00001
|
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile)
|
rs754360853
|
0.00001
|
NM_001457.4(FLNB):c.6029G>A (p.Arg2010His)
|
rs188216614
|
0.00001
|
NM_001457.4(FLNB):c.6310C>T (p.Arg2104Trp)
|
rs751795794
|
0.00001
|
NM_001457.4(FLNB):c.6590G>A (p.Arg2197Gln)
|
rs749488943
|
0.00001
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala)
|
rs557340983
|
0.00001
|
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu)
|
rs904660062
|
0.00001
|
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser)
|
rs945234297
|
0.00001
|
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp)
|
rs370407502
|
0.00001
|
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)
|
rs751436440
|
0.00001
|
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly)
|
rs767686686
|
0.00001
|
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser)
|
rs770043048
|
0.00001
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)
|
rs772889503
|
0.00001
|
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met)
|
rs770907704
|
0.00001
|
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln)
|
rs201956851
|
0.00001
|
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu)
|
rs978657987
|
0.00001
|
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser)
|
rs753709490
|
0.00001
|
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys)
|
rs778838205
|
0.00001
|
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln)
|
rs375448469
|
0.00001
|
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr)
|
rs1555164561
|
0.00001
|
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn)
|
rs763777663
|
0.00001
|
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr)
|
rs775279845
|
0.00001
|
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=)
|
rs1284508374
|
0.00001
|
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys)
|
rs759583931
|
0.00001
|
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser)
|
rs1181216326
|
0.00001
|
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn)
|
rs369865437
|
0.00001
|
NM_001853.4(COL9A3):c.1009-12C>A
|
rs752646714
|
0.00001
|
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg)
|
rs751155680
|
0.00001
|
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp)
|
rs1402379236
|
0.00001
|
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser)
|
rs748391176
|
0.00001
|
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp)
|
rs1402186540
|
0.00001
|
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp)
|
rs748335883
|
0.00001
|
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser)
|
rs1194226000
|
0.00001
|
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser)
|
rs746192125
|
0.00001
|
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=)
|
rs1211057639
|
0.00001
|
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys)
|
rs1272896075
|
0.00001
|
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu)
|
rs754657948
|
0.00001
|
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)
|
rs775660447
|
0.00001
|
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His)
|
rs779869745
|
0.00001
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)
|
rs1040168773
|
0.00001
|
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys)
|
rs377320274
|
0.00001
|
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu)
|
rs773157346
|
0.00001
|
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu)
|
rs764478054
|
0.00001
|
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)
|
rs753649097
|
0.00001
|
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp)
|
rs780739712
|
0.00001
|
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys)
|
rs750014974
|
0.00001
|
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg)
|
rs146997967
|
0.00001
|
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser)
|
rs1374575593
|
0.00001
|
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr)
|
rs780611200
|
0.00001
|
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr)
|
rs1277867710
|
0.00001
|
NM_001854.4(COL11A1):c.511G>A (p.Val171Met)
|
rs751182532
|
0.00001
|
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)
|
rs748315186
|
0.00001
|
NM_001903.5(CTNNA1):c.1593A>G (p.Gln531=)
|
rs200279871
|
0.00001
|
NM_001903.5(CTNNA1):c.1746A>G (p.Thr582=)
|
rs1181337385
|
0.00001
|
NM_001903.5(CTNNA1):c.2400G>A (p.Val800=)
|
rs1370483870
|
0.00001
|
NM_001903.5(CTNNA1):c.859-7T>G
|
rs374326029
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
NM_002206.3(ITGA7):c.2779C>T (p.Arg927Trp)
|
rs760407686
|
0.00001
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)
|
rs527639885
|
0.00001
|
NM_002439.5(MSH3):c.1028-5A>T
|
rs774961818
|
0.00001
|
NM_002473.6(MYH9):c.3592G>A (p.Val1198Met)
|
rs200732002
|
0.00001
|
NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys)
|
rs566790184
|
0.00001
|
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys)
|
rs141184241
|
0.00001
|
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)
|
rs780870767
|
0.00001
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
NM_002528.7(NTHL1):c.-1C>T
|
rs532310992
|
0.00001
|
NM_002528.7(NTHL1):c.402C>G (p.Thr134=)
|
rs1169048585
|
0.00001
|
NM_002528.7(NTHL1):c.690G>A (p.Val230=)
|
rs756156987
|
0.00001
|
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)
|
rs752444746
|
0.00001
|
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly)
|
rs199792522
|
0.00001
|
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)
|
rs144707871
|
0.00001
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
NM_002691.4(POLD1):c.3231C>T (p.Pro1077=)
|
rs770660636
|
0.00001
|
NM_002755.4(MAP2K1):c.984A>C (p.Gly328=)
|
rs773755873
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_002878.4(RAD51D):c.22C>T (p.Leu8=)
|
rs876659203
|
0.00001
|
NM_002880.4(RAF1):c.601A>G (p.Ile201Val)
|
rs757700986
|
0.00001
|
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr)
|
rs144524710
|
0.00001
|
NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys)
|
rs544884266
|
0.00001
|
NM_002907.4(RECQL):c.789G>A (p.Thr263=)
|
rs774302679
|
0.00001
|
NM_002941.4(ROBO1):c.2512G>A (p.Val838Ile)
|
rs189089312
|
0.00001
|
NM_003000.3(SDHB):c.700C>T (p.Leu234=)
|
rs201728852
|
0.00001
|
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly)
|
rs1245060732
|
0.00001
|
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr)
|
rs1388950613
|
0.00001
|
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=)
|
rs776413354
|
0.00001
|
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu)
|
rs781703999
|
0.00001
|
NM_003193.5(TBCE):c.133G>A (p.Glu45Lys)
|
rs199888401
|
0.00001
|
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser)
|
rs1231823028
|
0.00001
|
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp)
|
rs758453554
|
0.00001
|
NM_003742.4(ABCB11):c.1350G>T (p.Met450Ile)
|
rs542821407
|
0.00001
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
NM_003977.4(AIP):c.159C>T (p.Ser53=)
|
rs764878127
|
0.00001
|
NM_003977.4(AIP):c.6G>A (p.Ala2=)
|
rs1865725846
|
0.00001
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
0.00001
|
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)
|
rs1319200626
|
0.00001
|
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His)
|
rs1556836492
|
0.00001
|
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)
|
rs752390475
|
0.00001
|
NM_004304.5(ALK):c.140C>T (p.Ser47Leu)
|
rs541315214
|
0.00001
|
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)
|
rs74716434
|
0.00001
|
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro)
|
rs587781432
|
0.00001
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)
|
rs587780121
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_004415.4(DSP):c.145A>G (p.Thr49Ala)
|
rs142059019
|
0.00001
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)
|
rs185367490
|
0.00001
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
NM_004655.4(AXIN2):c.721T>G (p.Cys241Gly)
|
rs370549410
|
0.00001
|
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)
|
rs1023010218
|
0.00001
|
NM_004958.4(MTOR):c.6107G>A (p.Arg2036His)
|
rs1642913016
|
0.00001
|
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr)
|
rs757751684
|
0.00001
|
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His)
|
rs765503816
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_005359.6(SMAD4):c.960T>C (p.Pro320=)
|
rs1568208159
|
0.00001
|
NM_005422.4(TECTA):c.5372C>G (p.Pro1791Arg)
|
rs754213928
|
0.00001
|
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=)
|
rs1250688041
|
0.00001
|
NM_005726.6(TSFM):c.978G>A (p.Ter326=)
|
rs766301009
|
0.00001
|
NM_005732.4(RAD50):c.2651G>A (p.Arg884His)
|
rs558302979
|
0.00001
|
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu)
|
rs149865710
|
0.00001
|
NM_006005.3(WFS1):c.693G>A (p.Glu231=)
|
rs149479911
|
0.00001
|
NM_006059.4(LAMC3):c.4031-10G>A
|
rs555619019
|
0.00001
|
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr)
|
rs563016888
|
0.00001
|
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser)
|
rs587778596
|
0.00001
|
NM_006231.4(POLE):c.1308C>T (p.Pro436=)
|
rs755627156
|
0.00001
|
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln)
|
rs534297483
|
0.00001
|
NM_006231.4(POLE):c.2706+5G>A
|
rs375931088
|
0.00001
|
NM_006231.4(POLE):c.3061-4C>G
|
rs201517516
|
0.00001
|
NM_006231.4(POLE):c.391G>T (p.Val131Leu)
|
rs745601745
|
0.00001
|
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys)
|
rs985504177
|
0.00001
|
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys)
|
rs542430685
|
0.00001
|
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln)
|
rs762965148
|
0.00001
|
NM_006231.4(POLE):c.4952+5G>A
|
rs1555222548
|
0.00001
|
NM_006231.4(POLE):c.5340C>T (p.Ala1780=)
|
rs1291600656
|
0.00001
|
NM_006231.4(POLE):c.5454G>A (p.Val1818=)
|
rs1046972573
|
0.00001
|
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)
|
rs749992643
|
0.00001
|
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys)
|
rs5745067
|
0.00001
|
NM_006231.4(POLE):c.6631C>T (p.Leu2211=)
|
rs769635764
|
0.00001
|
NM_006231.4(POLE):c.6646C>T (p.Leu2216=)
|
rs1220762553
|
0.00001
|
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp)
|
rs866548835
|
0.00001
|
NM_006231.4(POLE):c.90G>A (p.Ser30=)
|
rs369224511
|
0.00001
|
NM_006231.4(POLE):c.910-13T>C
|
rs759098283
|
0.00001
|
NM_006231.4(POLE):c.94C>T (p.Leu32Phe)
|
rs781513537
|
0.00001
|
NM_006514.4(SCN10A):c.1715C>T (p.Pro572Leu)
|
rs553784643
|
0.00001
|
NM_006514.4(SCN10A):c.2209G>A (p.Val737Ile)
|
rs764654464
|
0.00001
|
NM_006514.4(SCN10A):c.2483C>T (p.Pro828Leu)
|
rs749000689
|
0.00001
|
NM_006514.4(SCN10A):c.4245G>A (p.Gly1415=)
|
rs771909114
|
0.00001
|
NM_006514.4(SCN10A):c.5306A>C (p.Asp1769Ala)
|
rs377121469
|
0.00001
|
NM_006514.4(SCN10A):c.5446G>A (p.Gly1816Arg)
|
rs779692735
|
0.00001
|
NM_006516.4(SLC2A1):c.-2C>T
|
rs587784388
|
0.00001
|
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His)
|
rs1342950357
|
0.00001
|
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)
|
rs900174205
|
0.00001
|
NM_006767.4(LZTR1):c.2070-8G>T
|
rs768003361
|
0.00001
|
NM_006767.4(LZTR1):c.2310G>A (p.Val770=)
|
rs1226268646
|
0.00001
|
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys)
|
rs577018955
|
0.00001
|
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val)
|
rs377507565
|
0.00001
|
NM_006941.4(SOX10):c.981C>A (p.Ala327=)
|
rs949765986
|
0.00001
|
NM_006950.3(SYN1):c.364C>T (p.Pro122Ser)
|
rs774818779
|
0.00001
|
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)
|
rs756487822
|
0.00001
|
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)
|
rs751254270
|
0.00001
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln)
|
rs570013652
|
0.00001
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
|
rs587782458
|
0.00001
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)
|
rs397507226
|
0.00001
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)
|
rs80356942
|
0.00001
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly)
|
rs748675395
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_007325.5(GRIA3):c.328A>G (p.Met110Val)
|
rs756957362
|
0.00001
|
NM_007363.5(NONO):c.1172-11_1172-9del
|
rs759524596
|
0.00001
|
NM_012062.5(DNM1L):c.198A>G (p.Gln66=)
|
rs764711165
|
0.00001
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg)
|
rs368570586
|
0.00001
|
NM_014225.6(PPP2R1A):c.489G>T (p.Lys163Asn)
|
rs1474301500
|
0.00001
|
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly)
|
rs745327804
|
0.00001
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val)
|
rs745664974
|
0.00001
|
NM_014727.3(KMT2B):c.3062G>A (p.Arg1021Gln)
|
rs376006013
|
0.00001
|
NM_014727.3(KMT2B):c.3604A>G (p.Met1202Val)
|
rs755470297
|
0.00001
|
NM_014727.3(KMT2B):c.5429C>T (p.Pro1810Leu)
|
rs1378884779
|
0.00001
|
NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro)
|
rs730881197
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015338.6(ASXL1):c.1717C>T (p.Arg573Trp)
|
rs373685182
|
0.00001
|
NM_015346.4(ZFYVE26):c.1272-10T>C
|
rs773153713
|
0.00001
|
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu)
|
rs1011541536
|
0.00001
|
NM_015559.3(SETBP1):c.3175C>T (p.Pro1059Ser)
|
rs1224731205
|
0.00001
|
NM_015570.4(AUTS2):c.3184C>T (p.Pro1062Ser)
|
rs1057521756
|
0.00001
|
NM_015909.4(NBAS):c.3839G>A (p.Arg1280Gln)
|
rs149082253
|
0.00001
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)
|
rs1476121151
|
0.00001
|
NM_016239.4(MYO15A):c.6530G>A (p.Arg2177Gln)
|
rs575546518
|
0.00001
|
NM_016239.4(MYO15A):c.9815G>A (p.Arg3272His)
|
rs199866618
|
0.00001
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
NM_017636.4(TRPM4):c.1515T>A (p.His505Gln)
|
rs1202211366
|
0.00001
|
NM_017654.4(SAMD9):c.1052A>T (p.Asp351Val)
|
rs757652918
|
0.00001
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg)
|
rs760775347
|
0.00001
|
NM_017837.4(PIGV):c.1317T>C (p.Leu439=)
|
rs959088580
|
0.00001
|
NM_017934.7(PHIP):c.4941T>A (p.Val1647=)
|
rs1369466541
|
0.00001
|
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys)
|
rs138727329
|
0.00001
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys)
|
rs562472225
|
0.00001
|
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
|
rs748282723
|
0.00001
|
NM_020699.4(GATAD2B):c.1467G>A (p.Thr489=)
|
rs763266883
|
0.00001
|
NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys)
|
rs1064796301
|
0.00001
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
NM_020937.4(FANCM):c.5717-4T>A
|
rs781258517
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021728.4(OTX2):c.150G>A (p.Arg50=)
|
rs1246931412
|
0.00001
|
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu)
|
rs368597074
|
0.00001
|
NM_022124.6(CDH23):c.1135-10C>G
|
rs749236786
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)
|
rs776280813
|
0.00001
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
rs786202692
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu)
|
rs556060060
|
0.00001
|
NM_030665.4(RAI1):c.1758G>C (p.Lys586Asn)
|
rs756134541
|
0.00001
|
NM_030665.4(RAI1):c.469T>C (p.Tyr157His)
|
rs1289033749
|
0.00001
|
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr)
|
rs782307186
|
0.00001
|
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro)
|
rs1012962799
|
0.00001
|
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
|
rs375025827
|
0.00001
|
NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr)
|
rs774167945
|
0.00001
|
NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys)
|
rs567519802
|
0.00001
|
NM_032119.4(ADGRV1):c.14353A>G (p.Ile4785Val)
|
rs773654115
|
0.00001
|
NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu)
|
rs763840800
|
0.00001
|
NM_032119.4(ADGRV1):c.18214C>T (p.Leu6072Phe)
|
rs769391232
|
0.00001
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00001
|
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)
|
rs876657822
|
0.00001
|
NM_032119.4(ADGRV1):c.4463G>A (p.Arg1488Gln)
|
rs748876967
|
0.00001
|
NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr)
|
rs776199730
|
0.00001
|
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val)
|
rs1299020576
|
0.00001
|
NM_032119.4(ADGRV1):c.7664A>G (p.Lys2555Arg)
|
rs1284659275
|
0.00001
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn)
|
rs754064567
|
0.00001
|
NM_032638.5(GATA2):c.1020G>A (p.Ser340=)
|
rs370166358
|
0.00001
|
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr)
|
rs754487739
|
0.00001
|
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=)
|
rs1350852221
|
0.00001
|
NM_052867.4(NALCN):c.4466G>A (p.Arg1489His)
|
rs149644813
|
0.00001
|
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)
|
rs145191000
|
0.00001
|
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln)
|
rs757766496
|
0.00001
|
NM_058195.4(CDKN2A):c.-39G>A
|
rs1064793537
|
0.00001
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)
|
rs730881927
|
0.00001
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln)
|
rs762813373
|
0.00001
|
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met)
|
rs755731113
|
0.00001
|
NM_080680.3(COL11A2):c.143G>A (p.Arg48Gln)
|
rs760502556
|
0.00001
|
NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu)
|
rs769588312
|
0.00001
|
NM_080680.3(COL11A2):c.2356C>T (p.Pro786Ser)
|
rs997884133
|
0.00001
|
NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln)
|
rs773908748
|
0.00001
|
NM_080680.3(COL11A2):c.2518C>T (p.Arg840Trp)
|
rs769151199
|
0.00001
|
NM_080680.3(COL11A2):c.2519G>A (p.Arg840Gln)
|
rs538425732
|
0.00001
|
NM_080680.3(COL11A2):c.3118C>A (p.Pro1040Thr)
|
rs759919085
|
0.00001
|
NM_080680.3(COL11A2):c.3326C>A (p.Pro1109His)
|
rs751465004
|
0.00001
|
NM_080680.3(COL11A2):c.3335C>A (p.Pro1112His)
|
rs759086485
|
0.00001
|
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln)
|
rs529015303
|
0.00001
|
NM_080680.3(COL11A2):c.3609T>G (p.Val1203=)
|
rs768558233
|
0.00001
|
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)
|
rs780613380
|
0.00001
|
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)
|
rs1219133025
|
0.00001
|
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)
|
rs727504832
|
0.00001
|
NM_080680.3(COL11A2):c.4307C>T (p.Pro1436Leu)
|
rs1338682682
|
0.00001
|
NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val)
|
rs1300439797
|
0.00001
|
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp)
|
rs534700620
|
0.00001
|
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)
|
rs781633250
|
0.00001
|
NM_080680.3(COL11A2):c.689G>A (p.Gly230Glu)
|
rs143571317
|
0.00001
|
NM_130837.3(OPA1):c.212G>A (p.Arg71His)
|
rs766106312
|
0.00001
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly)
|
rs577055148
|
0.00001
|
NM_130837.3(OPA1):c.517G>A (p.Val173Ile)
|
rs778997114
|
0.00001
|
NM_130837.3(OPA1):c.626C>T (p.Thr209Met)
|
rs772596317
|
0.00001
|
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn)
|
rs367814426
|
0.00001
|
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)
|
rs758056583
|
0.00001
|
NM_133379.5(TTN):c.14656A>G (p.Asn4886Asp)
|
rs753546575
|
0.00001
|
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile)
|
rs184603559
|
0.00001
|
NM_144672.4(OTOA):c.1807-6T>C
|
rs767786513
|
0.00001
|
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)
|
rs375352888
|
0.00001
|
NM_144997.7(FLCN):c.257G>A (p.Arg86Gln)
|
rs765550303
|
0.00001
|
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp)
|
rs200185554
|
0.00001
|
NM_152594.3(SPRED1):c.196A>C (p.Arg66=)
|
rs751923342
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_170707.4(LMNA):c.111G>A (p.Glu37=)
|
rs886038906
|
0.00001
|
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met)
|
rs1349830428
|
0.00001
|
NM_173076.3(ABCA12):c.212T>A (p.Leu71Gln)
|
rs776056801
|
0.00001
|
NM_182476.3(COQ6):c.982G>A (p.Ala328Thr)
|
rs564107029
|
0.00001
|
NM_182961.4(SYNE1):c.600A>T (p.Val200=)
|
rs781563259
|
0.00001
|
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg)
|
rs764474318
|
0.00001
|
NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln)
|
rs141544736
|
0.00001
|
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln)
|
rs760896684
|
0.00001
|
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=)
|
rs747844017
|
0.00001
|
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met)
|
rs757360892
|
0.00001
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)
|
rs527644737
|
0.00001
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
NM_206933.4(USH2A):c.15052+8A>G
|
rs773109018
|
0.00001
|
NM_206933.4(USH2A):c.6153T>A (p.Thr2051=)
|
rs754250829
|
0.00001
|
NM_212482.4(FN1):c.3951C>T (p.Asp1317=)
|
rs763439987
|
0.00001
|
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)
|
rs199826743
|
|
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del)
|
rs587782888
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)
|
rs764203580
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
NM_000038.6(APC):c.5840C>G (p.Thr1947Ser)
|
rs575724078
|
|
NM_000051.4(ATM):c.1227T>C (p.Leu409=)
|
rs1060504273
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.7500C>T (p.Val2500=)
|
rs1060504286
|
|
NM_000051.4(ATM):c.8631G>A (p.Leu2877=)
|
rs1064794840
|
|
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu)
|
rs782268170
|
|
NM_000057.4(BLM):c.387_389del (p.Lys130del)
|
rs587778105
|
|
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)
|
rs753512842
|
|
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)
|
rs1064793402
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)
|
rs587782720
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
rs769535925
|
|
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala)
|
rs80358682
|
|
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)
|
rs730881536
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
|
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)
|
rs730881540
|
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
rs786202701
|
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
rs80358863
|
|
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp)
|
rs1064793571
|
|
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln)
|
rs1403648108
|
|
NM_000059.4(BRCA2):c.644A>G (p.Glu215Gly)
|
rs1198988757
|
|
NM_000059.4(BRCA2):c.6841+3A>T
|
rs81002825
|
|
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser)
|
rs80358930
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys)
|
rs876661273
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)
|
rs143202536
|
|
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.1720G>A (p.Ala574Thr)
|
|
|
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)
|
rs144590408
|
|
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)
|
rs757840865
|
|
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)
|
rs774300377
|
|
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)
|
rs201310235
|
|
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)
|
rs201310235
|
|
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)
|
rs35534614
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
NM_000078.3(CETP):c.1456G>A (p.Val486Met)
|
|
|
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
|
|
|
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)
|
rs145693444
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
|
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)
|
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=)
|
rs774673142
|
|
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
|
|
|
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
|
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
|
|
|
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
|
|
|
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn)
|
rs72969704
|
|
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
|
|
|
NM_000092.5(COL4A4):c.879T>A (p.Ser293=)
|
rs2150788345
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
|
rs143979792
|
|
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
|
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
NM_000124.4(ERCC6):c.3004T>A (p.Tyr1002Asn)
|
|
|
NM_000124.4(ERCC6):c.3628A>G (p.Lys1210Glu)
|
|
|
NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)
|
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000141.5(FGFR2):c.*197del
|
rs748777325
|
|
NM_000142.5(FGFR3):c.1646-11C>A
|
rs763302590
|
|
NM_000143.4(FH):c.1390+5G>A
|
rs1352808353
|
|
NM_000143.4(FH):c.739-17TTTTC[2]
|
rs745617145
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)
|
rs1057524799
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4068G>A (p.Leu1356=)
|
rs192740549
|
|
NM_000179.3(MSH6):c.432C>T (p.Ser144=)
|
rs1046304919
|
|
NM_000179.3(MSH6):c.818G>T (p.Gly273Val)
|
rs769610487
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)
|
|
|
NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)
|
|
|
NM_000213.5(ITGB4):c.3265G>C (p.Gly1089Arg)
|
|
|
NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)
|
|
|
NM_000213.5(ITGB4):c.4709-8C>A
|
rs371797130
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)
|
rs140691492
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
|
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)
|
rs730880633
|
|
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser)
|
rs730880552
|
|
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)
|
rs771753579
|
|
NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu)
|
rs1595843667
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
|
rs782176754
|
|
NM_000260.4(MYO7A):c.2405G>A (p.Arg802His)
|
|
|
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)
|
rs533027065
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
NM_000260.4(MYO7A):c.3388C>T (p.Leu1130=)
|
rs782397974
|
|
NM_000260.4(MYO7A):c.4153-8C>A
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.5349C>A (p.Asp1783Glu)
|
rs201008835
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)
|
rs544709413
|
|
NM_000260.4(MYO7A):c.984G>A (p.Leu328=)
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000306.4(POU1F1):c.666-8C>G
|
rs182127067
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000313.4(PROS1):c.1644+4A>T
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
NM_000314.8(PTEN):c.79+7A>T
|
rs374331677
|
|
NM_000316.3(PTH1R):c.182G>A (p.Ser61Asn)
|
rs187585108
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
NM_000335.5(SCN5A):c.5648C>T (p.Pro1883Leu)
|
rs755162776
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
NM_000350.3(ABCA4):c.677G>A (p.Arg226His)
|
rs144310835
|
|
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu)
|
rs144310835
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)
|
rs886038287
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)
|
rs562574661
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
|
|
|
NM_000384.3(APOB):c.4676C>T (p.Ala1559Val)
|
rs549741449
|
|
NM_000384.3(APOB):c.4754A>T (p.Asn1585Ile)
|
rs549983245
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val)
|
rs571626569
|
|
NM_000384.3(APOB):c.9242G>A (p.Ser3081Asn)
|
rs72653100
|
|
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)
|
rs754871147
|
|
NM_000412.5(HRG):c.99del (p.Ala34fs)
|
rs563237107
|
|
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)
|
rs56173620
|
|
NM_000441.2(SLC26A4):c.732C>G (p.Thr244=)
|
rs2129311968
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
NM_000465.4(BARD1):c.1644G>A (p.Lys548=)
|
rs1064796411
|
|
NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)
|
rs76744638
|
|
NM_000478.6(ALPL):c.1503C>T (p.Ser501=)
|
rs1644757548
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys)
|
rs200223042
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_000515.5(GH1):c.7A>C (p.Thr3Pro)
|
rs2001345
|
|
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)
|
rs33959855
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492
|
|
NM_000530.8(MPZ):c.646-7C>G
|
rs377495735
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
|
rs1805318
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
NM_000540.3(RYR1):c.13113C>G (p.Ala4371=)
|
rs1599635569
|
|
NM_000540.3(RYR1):c.14304-6C>A
|
rs794728693
|
|
NM_000540.3(RYR1):c.166-3dup
|
rs745926203
|
|
NM_000540.3(RYR1):c.2168-3dup
|
rs1555770306
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.7028-13T>C
|
rs773283518
|
|
NM_000545.8(HNF1A):c.-124G>C
|
rs563304627
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
NM_000546.6(TP53):c.783-16_783-15del
|
rs1064793810
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
NM_000660.7(TGFB1):c.86G>A (p.Gly29Glu)
|
rs199758510
|
|
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
|
|
|
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)
|
rs367895193
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)
|
rs886043512
|
|
NM_000807.4(GABRA2):c.1219_1220delinsAA (p.Ala407Lys)
|
rs1553895447
|
|
NM_000843.4(GRM6):c.58_72del (p.Trp20_Ala24del)
|
rs1189206125
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)
|
rs770909247
|
|
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)
|
rs756376477
|
|
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)
|
rs75282758
|
|
NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser)
|
rs2080102020
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
NM_001012759.3(CTU2):c.1509_1512dup (p.Ile505fs)
|
|
|
NM_001012759.3(CTU2):c.424T>C (p.Phe142Leu)
|
|
|
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)
|
|
|
NM_001025356.3(ANO6):c.2572G>A (p.Asp858Asn)
|
|
|
NM_001025616.3(ARHGAP24):c.1442C>T (p.Thr481Met)
|
rs147870358
|
|
NM_001031679.3(MSRB3):c.-118del
|
rs574256598
|
|
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg)
|
rs574353697
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
NM_001037333.3(CYFIP2):c.2584C>G (p.Arg862Gly)
|
|
|
NM_001038.6(SCNN1A):c.2004dup (p.Pro669fs)
|
rs761663786
|
|
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)
|
rs144653364
|
|
NM_001039591.3(USP9X):c.3140T>C (p.Met1047Thr)
|
|
|
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)
|
rs111588143
|
|
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser)
|
rs745774658
|
|
NM_001040436.3(YARS2):c.780-11T>C
|
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
NM_001042681.2(RERE):c.1745C>T (p.Ser582Leu)
|
|
|
NM_001042681.2(RERE):c.2449_2460dup (p.Pro817_Pro820dup)
|
rs749071713
|
|
NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])
|
rs201570536
|
|
NM_001042750.2(STAG2):c.1822-16TAT[2]
|
rs1356736514
|
|
NM_001069.3(TUBB2A):c.344C>T (p.Ser115Leu)
|
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
|
|
|
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
|
|
|
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)
|
|
|
NM_001080453.3(INTS1):c.230G>A (p.Arg77His)
|
|
|
NM_001080453.3(INTS1):c.6139A>G (p.Met2047Val)
|
|
|
NM_001080477.4(TENM3):c.3331A>G (p.Met1111Val)
|
|
|
NM_001080517.3(SETD5):c.2324G>A (p.Gly775Asp)
|
rs1453766111
|
|
NM_001080517.3(SETD5):c.327C>T (p.Cys109=)
|
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
NM_001083614.2(EARS2):c.1292G>C (p.Gly431Ala)
|
rs112604556
|
|
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
|
|
|
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter)
|
rs765669597
|
|
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter)
|
rs577421914
|
|
NM_001100913.3(PACS2):c.527G>A (p.Ser176Asn)
|
rs782204977
|
|
NM_001100913.3(PACS2):c.725C>G (p.Thr242Arg)
|
rs780880602
|
|
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)
|
rs727503116
|
|
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)
|
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
NM_001113491.2(SEPTIN9):c.791C>T (p.Ala264Val)
|
rs745391514
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp)
|
rs139163545
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr)
|
rs147933585
|
|
NM_001128840.3(CACNA1D):c.3376G>T (p.Val1126Leu)
|
|
|
NM_001128840.3(CACNA1D):c.5936G>A (p.Arg1979Gln)
|
rs143354476
|
|
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])
|
rs1204097562
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001136193.2(FASTKD2):c.1207C>G (p.Leu403Val)
|
|
|
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys)
|
|
|
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
|
|
|
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly)
|
rs577922766
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
NM_001145809.2(MYH14):c.594A>T (p.Gly198=)
|
rs1195002362
|
|
NM_001148.6(ANK2):c.10976G>A (p.Arg3659His)
|
rs556640912
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
NM_001148.6(ANK2):c.11522C>T (p.Pro3841Leu)
|
rs767769233
|
|
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del)
|
rs770530257
|
|
NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser)
|
rs200920714
|
|
NM_001148.6(ANK2):c.4940G>A (p.Cys1647Tyr)
|
rs2095548237
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly)
|
rs28377576
|
|
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe)
|
rs1564029811
|
|
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)
|
rs753223319
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu)
|
rs199914670
|
|
NM_001197104.2(KMT2A):c.1519C>G (p.Pro507Ala)
|
rs191014566
|
|
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
|
|
|
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys)
|
rs182963279
|
|
NM_001205293.3(CACNA1E):c.2177A>T (p.Lys726Ile)
|
rs2102509840
|
|
NM_001205293.3(CACNA1E):c.4692G>A (p.Leu1564=)
|
rs2102723150
|
|
NM_001205293.3(CACNA1E):c.6229C>T (p.Arg2077Cys)
|
rs370905391
|
|
NM_001220.5(CAMK2B):c.1568del (p.Pro523fs)
|
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
NM_001244008.2(KIF1A):c.720+5G>C
|
rs377502239
|
|
NM_001256053.2(ANKRD26):c.1815-2_1815del
|
rs564681878
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val)
|
rs794729407
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
NM_001267550.2(TTN):c.4227A>G (p.Ser1409=)
|
rs2154346890
|
|
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln)
|
rs1271800091
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
|
|
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly)
|
rs781195013
|
|
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)
|
rs531242797
|
|
NM_001267550.2(TTN):c.55303-1G>A
|
rs748369265
|
|
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)
|
rs886039082
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
NM_001267550.2(TTN):c.82574C>T (p.Thr27525Met)
|
rs1321989289
|
|
NM_001267550.2(TTN):c.90870C>T (p.Val30290=)
|
rs794729527
|
|
NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)
|
rs1202181464
|
|
NM_001277058.2(ERCC6):c.2378A>G (p.Tyr793Cys)
|
|
|
NM_001277115.2(DNAH11):c.4945-5T>G
|
rs886038468
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
NM_001282531.3(ADNP):c.3099T>C (p.Tyr1033=)
|
|
|
NM_001286577.2(C2CD3):c.1448T>C (p.Leu483Pro)
|
|
|
NM_001287491.2(TET3):c.3638G>A (p.Gly1213Asp)
|
|
|
NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala)
|
|
|
NM_001288705.3(CSF1R):c.592+5G>A
|
|
|
NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del)
|
rs541157165
|
|
NM_001292063.2(OTOG):c.4102C>A (p.Arg1368=)
|
|
|
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His)
|
rs766229978
|
|
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu)
|
rs7190978
|
|
NM_001312909.2(FAM111A):c.1285C>A (p.Pro429Thr)
|
rs149508004
|
|
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)
|
rs587783114
|
|
NM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg)
|
rs146100011
|
|
NM_001349206.2(LPIN1):c.928C>T (p.Leu310=)
|
rs757007907
|
|
NM_001349338.3(FOXP1):c.1162A>T (p.Ser388Cys)
|
|
|
NM_001349338.3(FOXP1):c.184C>T (p.Leu62Phe)
|
rs538443416
|
|
NM_001349338.3(FOXP1):c.665-7_665-4del
|
rs1453915867
|
|
NM_001349338.3(FOXP1):c.728A>G (p.Glu243Gly)
|
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001356.5(DDX3X):c.1203C>T (p.Ile401=)
|
|
|
NM_001356.5(DDX3X):c.1815_1817del (p.Ser606del)
|
rs2063940085
|
|
NM_001358921.2(COQ2):c.421-9T>C
|
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)
|
rs143471358
|
|
NM_001364905.1(LRBA):c.114G>T (p.Gly38=)
|
rs72721739
|
|
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly)
|
rs376472382
|
|
NM_001365276.2(TNXB):c.4244C>T (p.Ala1415Val)
|
rs770309992
|
|
NM_001365276.2(TNXB):c.5285G>A (p.Arg1762Gln)
|
|
|
NM_001365276.2(TNXB):c.5603C>T (p.Thr1868Met)
|
|
|
NM_001365276.2(TNXB):c.5870A>G (p.His1957Arg)
|
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
NM_001365276.2(TNXB):c.7493-4del
|
rs1352801514
|
|
NM_001365276.2(TNXB):c.9242T>C (p.Met3081Thr)
|
|
|
NM_001365999.1(SZT2):c.5089-4_5089-3del
|
rs762645558
|
|
NM_001365999.1(SZT2):c.5603-11A>G
|
rs199939853
|
|
NM_001365999.1(SZT2):c.5687C>T (p.Pro1896Leu)
|
|
|
NM_001365999.1(SZT2):c.8420-13C>G
|
rs368330210
|
|
NM_001367624.2(ZNF469):c.10079G>T (p.Ser3360Ile)
|
rs929128705
|
|
NM_001367624.2(ZNF469):c.10327G>A (p.Gly3443Arg)
|
|
|
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val)
|
rs530393871
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
NM_001367624.2(ZNF469):c.4343_4344delinsTA (p.Pro1448Leu)
|
|
|
NM_001367624.2(ZNF469):c.457C>A (p.Pro153Thr)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.535G>A (p.Gly179Ser)
|
|
|
NM_001367624.2(ZNF469):c.6978C>G (p.His2326Gln)
|
rs185282301
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
NM_001367624.2(ZNF469):c.7861G>A (p.Val2621Met)
|
|
|
NM_001367624.2(ZNF469):c.8077C>T (p.Pro2693Ser)
|
|
|
NM_001367624.2(ZNF469):c.9242C>A (p.Thr3081Lys)
|
|
|
NM_001367721.1(CASK):c.1314+5_1314+8del
|
rs772325722
|
|
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
|
|
|
NM_001369268.1(ACAN):c.7531C>T (p.Arg2511Trp)
|
|
|
NM_001371928.1(AHDC1):c.3628G>A (p.Glu1210Lys)
|
|
|
NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu)
|
rs532329476
|
|
NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala)
|
rs138421862
|
|
NM_001375524.1(TRRAP):c.3196T>C (p.Tyr1066His)
|
rs2116509058
|
|
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val)
|
rs1057518524
|
|
NM_001376.5(DYNC1H1):c.6871G>A (p.Val2291Met)
|
|
|
NM_001377265.1(MAPT):c.1156G>A (p.Val386Met)
|
rs747178896
|
|
NM_001378328.1(CELSR1):c.366_386dup (p.Gly129_Ala130insThrGlyAlaArgLeuCysGly)
|
|
|
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
|
|
|
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu)
|
rs77517267
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378457.1(DMXL2):c.7214-10C>A
|
|
|
NM_001378609.3(OTOGL):c.1712-3C>A
|
|
|
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
|
|
|
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)
|
rs774578030
|
|
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT
|
rs1555853999
|
|
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)
|
rs199786639
|
|
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly)
|
rs563855694
|
|
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
|
|
|
NM_001384474.1(LOXHD1):c.4096-7del
|
rs1314985669
|
|
NM_001385.3(DPYS):c.1506del (p.Arg503fs)
|
rs79080341
|
|
NM_001394062.1(MACF1):c.15828A>C (p.Lys5276Asn)
|
|
|
NM_001394062.1(MACF1):c.18710T>C (p.Leu6237Pro)
|
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)
|
rs200902568
|
|
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln)
|
rs377737248
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu)
|
rs144321868
|
|
NM_001486.4(GCKR):c.1337_1338delinsCC (p.Leu446Pro)
|
rs2148586064
|
|
NM_001486.4(GCKR):c.1555G>A (p.Ala519Thr)
|
|
|
NM_001486.4(GCKR):c.548_549del (p.Ser183fs)
|
|
|
NM_001510.4(GRID2):c.2032C>G (p.Pro678Ala)
|
|
|
NM_001715.3(BLK):c.473-7C>G
|
rs200091252
|
|
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
|
|
|
NM_001792.5(CDH2):c.2103C>T (p.Cys701=)
|
rs751271722
|
|
NM_001792.5(CDH2):c.2603G>A (p.Gly868Glu)
|
|
|
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)
|
rs755043901
|
|
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser)
|
rs1045330263
|
|
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
|
|
|
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala)
|
rs745794356
|
|
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala)
|
rs1271505111
|
|
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
|
|
|
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp)
|
rs374036874
|
|
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser)
|
rs147750391
|
|
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=)
|
|
|
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg)
|
rs763352763
|
|
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala)
|
rs1414146646
|
|
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr)
|
rs770027510
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu)
|
rs199573161
|
|
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala)
|
rs201763437
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001851.6(COL9A1):c.1396-6T>C
|
rs1360782538
|
|
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
|
|
|
NM_001851.6(COL9A1):c.559G>A (p.Val187Met)
|
rs773143381
|
|
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)
|
rs146700420
|
|
NM_001852.4(COL9A2):c.480G>A (p.Pro160=)
|
rs745522018
|
|
NM_001852.4(COL9A2):c.747T>G (p.His249Gln)
|
rs747499674
|
|
NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro)
|
rs150885737
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)
|
rs760330151
|
|
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr)
|
rs767790003
|
|
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
|
|
|
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
|
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser)
|
rs1386580787
|
|
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr)
|
rs372319750
|
|
NM_001903.5(CTNNA1):c.1311C>G (p.Ala437=)
|
rs777730458
|
|
NM_001903.5(CTNNA1):c.1547-11T>A
|
rs1763590511
|
|
NM_001904.4(CTNNB1):c.2042C>T (p.Ser681Phe)
|
rs772401455
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr)
|
rs781153870
|
|
NM_001953.5(TYMP):c.190G>A (p.Gly64Arg)
|
rs767063709
|
|
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn)
|
rs570438867
|
|
NM_001987.5(ETV6):c.843C>G (p.Pro281=)
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_002168.4(IDH2):c.695C>T (p.Ala232Val)
|
rs1227626398
|
|
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser)
|
rs886043368
|
|
NM_002230.4(JUP):c.959G>A (p.Arg320His)
|
rs781965392
|
|
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)
|
rs139069413
|
|
NM_002250.3(KCNN4):c.1018C>A (p.His340Asn)
|
|
|
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)
|
rs72555376
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)
|
rs878854502
|
|
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)
|
rs762745890
|
|
NM_002473.6(MYH9):c.2267T>C (p.Ile756Thr)
|
|
|
NM_002473.6(MYH9):c.2728A>C (p.Lys910Gln)
|
|
|
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)
|
rs200697030
|
|
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn)
|
rs147031322
|
|
NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val)
|
|
|
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)
|
rs569541375
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
NM_002528.7(NTHL1):c.373C>T (p.Leu125=)
|
rs1397440217
|
|
NM_002528.7(NTHL1):c.384G>C (p.Leu128=)
|
rs755185485
|
|
NM_002528.7(NTHL1):c.526-10T>G
|
rs199771569
|
|
NM_002528.7(NTHL1):c.564G>A (p.Leu188=)
|
rs1596219422
|
|
NM_002528.7(NTHL1):c.585C>T (p.Asp195=)
|
rs2150941343
|
|
NM_002528.7(NTHL1):c.705C>T (p.His235=)
|
rs992194912
|
|
NM_002528.7(NTHL1):c.792-3C>T
|
rs3087467
|
|
NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp)
|
rs148005190
|
|
NM_002691.4(POLD1):c.2717+11G>A
|
rs753506843
|
|
NM_002691.4(POLD1):c.632G>A (p.Arg211His)
|
rs373192520
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002700.3(POU4F3):c.228C>T (p.Pro76=)
|
rs1581278124
|
|
NM_002878.4(RAD51D):c.412A>C (p.Asn138His)
|
rs141690729
|
|
NM_002887.4(RARS1):c.741G>A (p.Met247Ile)
|
|
|
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu)
|
rs561515655
|
|
NM_002907.4(RECQL):c.701-10_701-7del
|
rs770192412
|
|
NM_002941.4(ROBO1):c.4378C>A (p.Pro1460Thr)
|
|
|
NM_002972.4(SBF1):c.1333-6C>G
|
rs781476014
|
|
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)
|
rs200255724
|
|
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
|
|
|
NM_003072.5(SMARCA4):c.924G>A (p.Thr308=)
|
rs944736912
|
|
NM_003108.4(SOX11):c.456_467del (p.Gly153_Gly156del)
|
rs774530705
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
NM_003322.6(TULP1):c.829-7C>G
|
rs780382505
|
|
NM_003394.4(WNT10B):c.854T>C (p.Ile285Thr)
|
|
|
NM_003476.5(CSRP3):c.324C>T (p.Ser108=)
|
|
|
NM_003477.3(PDHX):c.343-7A>C
|
rs764804589
|
|
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1])
|
rs587783707
|
|
NM_003632.3(CNTNAP1):c.170-6C>G
|
|
|
NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)
|
|
|
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly)
|
rs199875933
|
|
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp)
|
rs141901540
|
|
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)
|
|
|
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln)
|
rs200152314
|
|
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly)
|
rs797044755
|
|
NM_003850.3(SUCLA2):c.-3_-2del
|
rs570547911
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
NM_004064.5(CDKN1B):c.-31AG[1]
|
rs774454456
|
|
NM_004092.4(ECHS1):c.22C>T (p.Leu8=)
|
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp)
|
rs782388435
|
|
NM_004230.4(S1PR2):c.429C>T (p.Asp143=)
|
rs774990809
|
|
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser)
|
rs1564776999
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala)
|
rs749792302
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
|
|
|
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser)
|
rs147295930
|
|
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His)
|
rs140748929
|
|
NM_004560.4(ROR2):c.623-11G>A
|
rs1350375399
|
|
NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg)
|
rs115353159
|
|
NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro)
|
rs1064796044
|
|
NM_004614.5(TK2):c.520G>C (p.Val174Leu)
|
rs149036717
|
|
NM_004618.5(TOP3A):c.1103A>G (p.Asn368Ser)
|
|
|
NM_004655.4(AXIN2):c.1404CCA[5] (p.His474del)
|
rs570443161
|
|
NM_004655.4(AXIN2):c.2012G>C (p.Arg671Pro)
|
rs765845684
|
|
NM_004715.5(CTDP1):c.1728GGA[6] (p.Glu582del)
|
rs3833180
|
|
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
|
|
|
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])
|
rs760152519
|
|
NM_004958.4(MTOR):c.1713_1715del (p.Thr572del)
|
rs1228888866
|
|
NM_004958.4(MTOR):c.5485_5505dup (p.Thr1829_Ala1835dup)
|
rs1643098054
|
|
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup)
|
rs770515802
|
|
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
|
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del)
|
rs747062636
|
|
NM_005245.4(FAT1):c.10424C>G (p.Pro3475Arg)
|
|
|
NM_005245.4(FAT1):c.12421C>G (p.Leu4141Val)
|
|
|
NM_005245.4(FAT1):c.4434C>G (p.Ile1478Met)
|
|
|
NM_005245.4(FAT1):c.8524G>A (p.Gly2842Ser)
|
|
|
NM_005247.4(FGF3):c.484C>A (p.Arg162=)
|
|
|
NM_005262.3(GFER):c.216G>A (p.Arg72=)
|
rs755279097
|
|
NM_005262.3(GFER):c.591C>G (p.Asp197Glu)
|
rs28738719
|
|
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)
|
rs35428353
|
|
NM_005276.4(GPD1):c.380A>G (p.Asn127Ser)
|
rs111241046
|
|
NM_005337.5(NCKAP1L):c.455G>A (p.Arg152Gln)
|
|
|
NM_005343.4(HRAS):c.102C>G (p.Pro34=)
|
rs149199691
|
|
NM_005343.4(HRAS):c.21G>C (p.Val7=)
|
|
|
NM_005359.6(SMAD4):c.756A>G (p.Gly252=)
|
rs1244121412
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
NM_005422.4(TECTA):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_005422.4(TECTA):c.4021G>A (p.Ala1341Thr)
|
|
|
NM_005422.4(TECTA):c.4578G>A (p.Gln1526=)
|
|
|
NM_005458.8(GABBR2):c.23G>A (p.Gly8Glu)
|
rs950352036
|
|
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly)
|
rs1830289381
|
|
NM_005458.8(GABBR2):c.422T>C (p.Ile141Thr)
|
rs1588236381
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser)
|
rs148328750
|
|
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
|
|
|
NM_005515.4(MNX1):c.576GCACCCCGC[1] (p.193HPA[1])
|
rs528990697
|
|
NM_005557.4(KRT16):c.769G>A (p.Glu257Lys)
|
|
|
NM_005559.4(LAMA1):c.6200C>G (p.Ala2067Gly)
|
rs143853128
|
|
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
|
|
|
NM_005560.6(LAMA5):c.6940C>T (p.Arg2314Trp)
|
|
|
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.19C>T (p.Leu7Phe)
|
rs73517551
|
|
NM_005629.4(SLC6A8):c.778-8C>G
|
rs781860529
|
|
NM_005633.4(SOS1):c.1977T>A (p.Asp659Glu)
|
rs1362181978
|
|
NM_005633.4(SOS1):c.3770C>T (p.Thr1257Ile)
|
rs962478091
|
|
NM_005883.3(APC2):c.4957C>G (p.Arg1653Gly)
|
|
|
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu)
|
rs576080629
|
|
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)
|
rs886043349
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val)
|
rs766673431
|
|
NM_006005.3(WFS1):c.2027G>A (p.Arg676His)
|
rs143055296
|
|
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg)
|
rs557048986
|
|
NM_006005.3(WFS1):c.672G>A (p.Gln224=)
|
rs1224486316
|
|
NM_006015.6(ARID1A):c.945C>T (p.Asp315=)
|
|
|
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His)
|
rs2070426
|
|
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg)
|
rs144242690
|
|
NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup)
|
rs1057520165
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
NM_006231.4(POLE):c.-6G>A
|
rs534524789
|
|
NM_006231.4(POLE):c.-6G>C
|
rs534524789
|
|
NM_006231.4(POLE):c.1021-20C>G
|
rs1064796140
|
|
NM_006231.4(POLE):c.1257G>A (p.Val419=)
|
rs1565973352
|
|
NM_006231.4(POLE):c.1360-6C>A
|
rs139836643
|
|
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)
|
rs574033788
|
|
NM_006231.4(POLE):c.2727G>A (p.Gln909=)
|
rs1555226055
|
|
NM_006231.4(POLE):c.286-8_286-7del
|
rs2043139110
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
NM_006231.4(POLE):c.4461C>T (p.Ile1487=)
|
rs536917758
|
|
NM_006231.4(POLE):c.4680C>T (p.Asp1560=)
|
rs774425403
|
|
NM_006231.4(POLE):c.5502C>T (p.Asp1834=)
|
rs1555221903
|
|
NM_006231.4(POLE):c.602T>C (p.Ile201Thr)
|
rs375209004
|
|
NM_006231.4(POLE):c.6192C>T (p.Phe2064=)
|
rs1555220905
|
|
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser)
|
rs572252265
|
|
NM_006231.4(POLE):c.6498C>T (p.Asp2166=)
|
rs946547049
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006361.6(HOXB13):c.216G>T (p.Gly72=)
|
rs769145488
|
|
NM_006361.6(HOXB13):c.303C>T (p.Ala101=)
|
|
|
NM_006361.6(HOXB13):c.64G>A (p.Gly22Arg)
|
rs539706443
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006514.4(SCN10A):c.2062G>A (p.Gly688Ser)
|
rs779931477
|
|
NM_006514.4(SCN10A):c.2161C>T (p.Pro721Ser)
|
rs747114420
|
|
NM_006514.4(SCN10A):c.2476G>A (p.Asp826Asn)
|
rs199535863
|
|
NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)
|
|
|
NM_006514.4(SCN10A):c.3108C>T (p.Val1036=)
|
rs970173552
|
|
NM_006514.4(SCN10A):c.3361C>A (p.Arg1121Ser)
|
rs146965005
|
|
NM_006514.4(SCN10A):c.3361C>T (p.Arg1121Cys)
|
rs146965005
|
|
NM_006514.4(SCN10A):c.4762C>T (p.Arg1588Ter)
|
rs142537392
|
|
NM_006514.4(SCN10A):c.5023C>A (p.Pro1675Thr)
|
rs758877832
|
|
NM_006514.4(SCN10A):c.542A>C (p.Glu181Ala)
|
rs142203439
|
|
NM_006563.5(KLF1):c.978G>A (p.Leu326=)
|
|
|
NM_006579.3(EBP):c.38C>G (p.Pro13Arg)
|
|
|
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr)
|
rs367785766
|
|
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp)
|
|
|
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile)
|
rs1281540872
|
|
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)
|
|
|
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)
|
|
|
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu)
|
rs1057523324
|
|
NM_006767.4(LZTR1):c.1314G>A (p.Glu438=)
|
|
|
NM_006767.4(LZTR1):c.1616-4del
|
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)
|
rs770312150
|
|
NM_006767.4(LZTR1):c.2326-10G>A
|
rs778909787
|
|
NM_006767.4(LZTR1):c.2326-11T>G
|
rs1421950903
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.384C>T (p.Ser128=)
|
|
|
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
|
|
|
NM_006947.4(SRP72):c.1089A>G (p.Glu363=)
|
|
|
NM_006947.4(SRP72):c.1408C>T (p.Leu470=)
|
|
|
NM_006996.3(SLC19A2):c.42G>A (p.Ala14=)
|
|
|
NM_007055.4(POLR3A):c.1771-5C>G
|
rs199733994
|
|
NM_007055.4(POLR3A):c.1771-7C>A
|
rs201314157
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007215.4(POLG2):c.39C>G (p.Val13=)
|
rs969072131
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val)
|
rs41286294
|
|
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=)
|
rs1064796061
|
|
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys)
|
rs80357124
|
|
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
|
rs80356899
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)
|
rs397509121
|
|
NM_007294.4(BRCA1):c.423A>G (p.Glu141=)
|
rs777102216
|
|
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys)
|
rs80357302
|
|
NM_007294.4(BRCA1):c.5106A>G (p.Lys1702=)
|
rs1060504574
|
|
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp)
|
rs191373374
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)
|
rs80357196
|
|
NM_007294.4(BRCA1):c.953A>G (p.His318Arg)
|
rs776278453
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
|
NM_007317.3(KIF22):c.576G>A (p.Ser192=)
|
rs11545431
|
|
NM_007325.5(GRIA3):c.43G>A (p.Val15Ile)
|
|
|
NM_012079.6(DGAT1):c.820C>A (p.Arg274=)
|
rs199537660
|
|
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)
|
rs200089613
|
|
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser)
|
rs77535003
|
|
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)
|
rs755451488
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_012469.4(PRPF6):c.2431+15_2431+36dup
|
rs771425756
|
|
NM_013275.6(ANKRD11):c.1652_1666del (p.Trp551_Ser555del)
|
rs780150752
|
|
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)
|
rs145997327
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
|
|
|
NM_014208.3(DSPP):c.2002AGT[1] (p.Ser669del)
|
rs745344342
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
NM_014391.3(ANKRD1):c.346-11T>A
|
rs1371295947
|
|
NM_014687.4(RUBCN):c.2429G>A (p.Arg810Gln)
|
|
|
NM_014727.3(KMT2B):c.1693C>T (p.Pro565Ser)
|
|
|
NM_014727.3(KMT2B):c.2797G>A (p.Gly933Arg)
|
|
|
NM_014727.3(KMT2B):c.4025C>T (p.Thr1342Ile)
|
|
|
NM_014727.3(KMT2B):c.4198C>T (p.Arg1400Cys)
|
|
|
NM_014727.3(KMT2B):c.4534G>A (p.Asp1512Asn)
|
|
|
NM_014727.3(KMT2B):c.475A>T (p.Thr159Ser)
|
|
|
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)
|
rs730881214
|
|
NM_014804.3(KIAA0753):c.2678C>G (p.Pro893Arg)
|
rs112740973
|
|
NM_014915.3(ANKRD26):c.228A>C (p.Arg76Ser)
|
|
|
NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu)
|
rs200100926
|
|
NM_014915.3(ANKRD26):c.4651G>A (p.Glu1551Lys)
|
|
|
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly)
|
|
|
NM_014956.5(CEP164):c.380C>A (p.Pro127His)
|
rs143659874
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015178.3(RHOBTB2):c.248G>A (p.Trp83Ter)
|
rs1357068280
|
|
NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)
|
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
NM_015338.6(ASXL1):c.2616C>T (p.Cys872=)
|
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
NM_015378.4(VPS13D):c.1103A>T (p.Asp368Val)
|
|
|
NM_015378.4(VPS13D):c.276G>T (p.Glu92Asp)
|
|
|
NM_015378.4(VPS13D):c.5270A>T (p.Asp1757Val)
|
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)
|
rs796052596
|
|
NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1])
|
rs552397269
|
|
NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3])
|
rs552397269
|
|
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val)
|
rs2145095402
|
|
NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys)
|
rs1325528399
|
|
NM_015559.3(SETBP1):c.2740C>T (p.Arg914Trp)
|
|
|
NM_015559.3(SETBP1):c.3900GAG[1] (p.Arg1301del)
|
rs754546927
|
|
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
|
|
|
NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn)
|
|
|
NM_015570.4(AUTS2):c.995C>A (p.Pro332His)
|
rs757432625
|
|
NM_015634.4(KIFBP):c.557G>A (p.Arg186His)
|
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
NM_015909.4(NBAS):c.3610A>G (p.Thr1204Ala)
|
|
|
NM_016011.5(MECR):c.246C>T (p.Ile82=)
|
|
|
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser)
|
rs111556571
|
|
NM_016111.4(TELO2):c.1969G>A (p.Val657Met)
|
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_016180.5(SLC45A2):c.953G>T (p.Arg318Leu)
|
rs142299109
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|
NM_016222.4(DDX41):c.138+5G>A
|
rs187714514
|
|
NM_016222.4(DDX41):c.1563C>T (p.Gly521=)
|
|
|
NM_016222.4(DDX41):c.189G>C (p.Gln63His)
|
|
|
NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys)
|
|
|
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro)
|
rs776096881
|
|
NM_016239.4(MYO15A):c.2513C>T (p.Ser838Leu)
|
|
|
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His)
|
rs200587502
|
|
NM_016239.4(MYO15A):c.5194G>C (p.Val1732Leu)
|
rs377309887
|
|
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser)
|
rs200355614
|
|
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr)
|
|
|
NM_016239.4(MYO15A):c.9190G>C (p.Asp3064His)
|
rs182977390
|
|
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)
|
rs201422605
|
|
NM_016373.4(WWOX):c.*200GGGCT[1]
|
rs144412859
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln)
|
|
|
NM_016604.4(KDM3B):c.3871T>C (p.Ser1291Pro)
|
rs2126994153
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017534.6(MYH2):c.1068G>C (p.Thr356=)
|
rs116419997
|
|
NM_017547.4(FOXRED1):c.470C>T (p.Ser157Leu)
|
rs778727697
|
|
NM_017565.4(FAM20A):c.134C>A (p.Pro45Gln)
|
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser)
|
rs531420022
|
|
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)
|
rs765535147
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
NM_017654.4(SAMD9):c.2715G>A (p.Leu905=)
|
|
|
NM_017654.4(SAMD9):c.3243T>C (p.Asn1081=)
|
|
|
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)
|
rs373866304
|
|
NM_017757.3(ZNF407):c.391C>G (p.Leu131Val)
|
|
|
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val)
|
rs1349434680
|
|
NM_017852.5(NLRP2):c.1010G>A (p.Arg337Gln)
|
|
|
NM_017852.5(NLRP2):c.1496_1498dup (p.Tyr499dup)
|
rs753221956
|
|
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)
|
rs61686936
|
|
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
|
|
|
NM_018006.5(TRMU):c.773-12_773-9del
|
rs863224241
|
|
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn)
|
rs751638632
|
|
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile)
|
rs2134698831
|
|
NM_018122.5(DARS2):c.228-10C>G
|
rs201817953
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro)
|
rs2125088445
|
|
NM_018669.6(WDR4):c.188C>T (p.Ala63Val)
|
|
|
NM_018993.4(RIN2):c.2260G>A (p.Glu754Lys)
|
rs375974979
|
|
NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del)
|
rs562766169
|
|
NM_019885.4(CYP26B1):c.1417C>A (p.Arg473Ser)
|
rs61751056
|
|
NM_020320.5(RARS2):c.772-3del
|
rs368859792
|
|
NM_020320.5(RARS2):c.772-4_772-3del
|
rs368859792
|
|
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu)
|
rs139721632
|
|
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu)
|
rs201730639
|
|
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys)
|
rs374204240
|
|
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)
|
rs562829310
|
|
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)
|
rs527847958
|
|
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr)
|
rs150028343
|
|
NM_020778.5(ALPK3):c.168C>T (p.His56=)
|
|
|
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp)
|
rs537104966
|
|
NM_020937.4(FANCM):c.3663T>C (p.Phe1221=)
|
rs772996800
|
|
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del)
|
rs765421461
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_022081.6(HPS4):c.860G>C (p.Gly287Ala)
|
rs571151621
|
|
NM_022095.4(ZNF335):c.131C>G (p.Ala44Gly)
|
|
|
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val)
|
rs150022595
|
|
NM_022124.6(CDH23):c.240G>A (p.Val80=)
|
|
|
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser)
|
rs756674688
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.7873-8C>G
|
rs376526400
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg)
|
rs1581091469
|
|
NM_022773.4(LMF1):c.1036A>G (p.Met346Val)
|
rs201767825
|
|
NM_022773.4(LMF1):c.1061G>A (p.Arg354Gln)
|
|
|
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
|
|
|
NM_023067.4(FOXL2):c.672_674del (p.Ala234del)
|
rs779509486
|
|
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)
|
rs138489552
|
|
NM_024101.7(MLPH):c.992G>A (p.Arg331Gln)
|
rs113169138
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
NM_024537.4(CARS2):c.1683dup (p.Ser562fs)
|
rs575601185
|
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
rs1567215519
|
|
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)
|
rs183489969
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn)
|
|
|
NM_025114.4(CEP290):c.251-4del
|
rs759170743
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)
|
rs150372864
|
|
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala)
|
rs397517415
|
|
NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu)
|
rs2032158187
|
|
NM_030665.4(RAI1):c.5172G>T (p.Arg1724=)
|
rs766240657
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_031307.4(PUS3):c.-47+3A>G
|
|
|
NM_031475.3(ESPN):c.451T>A (p.Phe151Ile)
|
rs139223525
|
|
NM_032043.3(BRIP1):c.1170C>T (p.Val390=)
|
rs754755989
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)
|
rs727504607
|
|
NM_032119.4(ADGRV1):c.10997A>G (p.Glu3666Gly)
|
|
|
NM_032119.4(ADGRV1):c.12632G>A (p.Arg4211Gln)
|
rs768374513
|
|
NM_032119.4(ADGRV1):c.15293A>C (p.Glu5098Ala)
|
|
|
NM_032119.4(ADGRV1):c.16249G>A (p.Val5417Ile)
|
rs375876245
|
|
NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu)
|
rs201767389
|
|
NM_032119.4(ADGRV1):c.18092T>C (p.Ile6031Thr)
|
|
|
NM_032119.4(ADGRV1):c.2264T>C (p.Leu755Pro)
|
|
|
NM_032119.4(ADGRV1):c.3222A>G (p.Ile1074Met)
|
rs751404994
|
|
NM_032119.4(ADGRV1):c.5018G>C (p.Gly1673Ala)
|
|
|
NM_032119.4(ADGRV1):c.505C>T (p.Leu169Phe)
|
rs952062982
|
|
NM_032119.4(ADGRV1):c.8291C>G (p.Ser2764Trp)
|
rs16869016
|
|
NM_032119.4(ADGRV1):c.896A>G (p.Tyr299Cys)
|
|
|
NM_032119.4(ADGRV1):c.9261A>T (p.Arg3087Ser)
|
|
|
NM_032119.4(ADGRV1):c.9896T>A (p.Ile3299Asn)
|
|
|
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del)
|
rs536289991
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys)
|
rs773665854
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
NM_032888.4(COL27A1):c.4120C>G (p.Leu1374Val)
|
rs150399981
|
|
NM_033004.4(NLRP1):c.3721G>A (p.Val1241Ile)
|
rs11653832
|
|
NM_033028.5(BBS4):c.1106+3A>G
|
rs886038704
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
|
rs568470164
|
|
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)
|
rs863224169
|
|
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu)
|
rs727505328
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
NM_033380.3(COL4A5):c.639A>G (p.Gly213=)
|
rs2147770243
|
|
NM_052865.4(MGME1):c.842A>G (p.His281Arg)
|
|
|
NM_052867.4(NALCN):c.3852C>A (p.Gly1284=)
|
rs772803115
|
|
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)
|
rs111638537
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.572-11del
|
rs587780258
|
|
NM_080680.3(COL11A2):c.1063C>T (p.Arg355Cys)
|
rs774410925
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)
|
|
|
NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)
|
|
|
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp)
|
rs202032297
|
|
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)
|
|
|
NM_080680.3(COL11A2):c.2843C>A (p.Pro948Gln)
|
|
|
NM_080680.3(COL11A2):c.2843C>T (p.Pro948Leu)
|
rs779187034
|
|
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)
|
rs372806452
|
|
NM_080680.3(COL11A2):c.3554G>A (p.Arg1185Gln)
|
rs771004504
|
|
NM_080680.3(COL11A2):c.3554G>C (p.Arg1185Pro)
|
rs771004504
|
|
NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys)
|
rs553025178
|
|
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)
|
rs374515005
|
|
NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)
|
|
|
NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)
|
|
|
NM_080680.3(COL11A2):c.3830C>A (p.Pro1277His)
|
rs777156156
|
|
NM_080680.3(COL11A2):c.3830C>G (p.Pro1277Arg)
|
rs777156156
|
|
NM_080680.3(COL11A2):c.3961-7C>A
|
rs1361986900
|
|
NM_080680.3(COL11A2):c.3992G>A (p.Arg1331Gln)
|
rs146082418
|
|
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)
|
rs142890313
|
|
NM_080680.3(COL11A2):c.4344C>G (p.Ile1448Met)
|
rs554269032
|
|
NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)
|
|
|
NM_080680.3(COL11A2):c.4933G>A (p.Val1645Ile)
|
rs556677734
|
|
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys)
|
rs863224137
|
|
NM_130837.3(OPA1):c.1838A>C (p.Glu613Ala)
|
rs949979832
|
|
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)
|
rs200756304
|
|
NM_130837.3(OPA1):c.2873-10C>G
|
rs2109277041
|
|
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
|
|
|
NM_130837.3(OPA1):c.696C>T (p.Leu232=)
|
rs375209295
|
|
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu)
|
rs1131691832
|
|
NM_130837.3(OPA1):c.785G>A (p.Arg262His)
|
rs201202646
|
|
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
|
rs200686732
|
|
NM_133261.3(GIPC3):c.679G>T (p.Gly227Trp)
|
rs202075236
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_138295.5(PKD1L1):c.3158G>A (p.Arg1053His)
|
rs10274334
|
|
NM_138477.4(CDAN1):c.3639T>C (p.Cys1213=)
|
|
|
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)
|
rs137876115
|
|
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)
|
rs794729091
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
NM_144672.4(OTOA):c.57A>T (p.Gly19=)
|
rs749912295
|
|
NM_148897.3(SDR9C7):c.718C>T (p.Arg240Cys)
|
|
|
NM_152703.5(SAMD9L):c.2037T>G (p.Phe679Leu)
|
rs188902048
|
|
NM_152703.5(SAMD9L):c.4718T>A (p.Ile1573Asn)
|
rs371764964
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe)
|
rs560416690
|
|
NM_170606.3(KMT2C):c.3283A>G (p.Arg1095Gly)
|
rs760716705
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu)
|
rs146002078
|
|
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr)
|
|
|
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)
|
rs767432277
|
|
NM_173689.7(CRB2):c.471C>G (p.His157Gln)
|
rs113157023
|
|
NM_173689.7(CRB2):c.883G>A (p.Ala295Thr)
|
rs74778545
|
|
NM_174889.5(NDUFAF2):c.491del (p.Gly164fs)
|
rs753595274
|
|
NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)
|
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys)
|
rs869025262
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser)
|
rs138707536
|
|
NM_178335.3(CCDC50):c.33G>A (p.Leu11=)
|
|
|
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu)
|
rs149033942
|
|
NM_182961.4(SYNE1):c.12607_12609delinsAAA (p.Glu4203Lys)
|
rs2096322019
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)
|
|
|
NM_183357.3(ADCY5):c.30G>A (p.Pro10=)
|
|
|
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser)
|
rs749154761
|
|
NM_194248.3(OTOF):c.2436G>A (p.Leu812=)
|
rs2148051340
|
|
NM_194248.3(OTOF):c.2457C>T (p.His819=)
|
|
|
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
|
|
|
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
|
|
|
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp)
|
rs377378925
|
|
NM_194248.3(OTOF):c.5193-3del
|
|
|
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=)
|
rs760178516
|
|
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=)
|
rs142748621
|
|
NM_198525.3(KIF7):c.2079C>A (p.Val693=)
|
rs113112856
|
|
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)
|
rs118049905
|
|
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro)
|
rs560954695
|
|
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)
|
rs61733968
|
|
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)
|
rs372858877
|
|
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
|
rs35309576
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His)
|
rs149465057
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_207346.3(TSEN54):c.315A>T (p.Ser105=)
|
|
|
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)
|
rs570476408
|
|
NM_207361.6(FREM2):c.850G>C (p.Val284Leu)
|
rs770004356
|
|
NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)
|
|
|