NM_019076.5(UGT1A8):c.855+63319T>G
|
rs7586110
|
0.34319
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)
|
rs2230723
|
0.01376
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr)
|
rs150884181
|
0.00842
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_025059.4(CCDC170):c.1033G>A (p.Glu345Lys)
|
rs55868409
|
0.00538
|
NM_001608.4(ACADL):c.928_929del (p.Thr310fs)
|
rs549315531
|
0.00529
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)
|
rs192628905
|
0.00486
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser)
|
rs78690642
|
0.00459
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)
|
rs41273533
|
0.00424
|
NM_020366.4(RPGRIP1):c.930+3A>G
|
rs150107283
|
0.00419
|
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)
|
rs202103485
|
0.00418
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
|
rs200970763
|
0.00414
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)
|
rs62642502
|
0.00312
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
|
rs61747625
|
0.00307
|
NM_000431.4(MVK):c.226+4A>G
|
rs145732290
|
0.00297
|
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)
|
rs778160013
|
0.00286
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)
|
rs149424724
|
0.00282
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)
|
rs61737098
|
0.00277
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val)
|
rs34246477
|
0.00274
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)
|
rs34082669
|
0.00268
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_019077.3(UGT1A7):c.352G>T (p.Asp118Tyr)
|
rs140814031
|
0.00252
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val)
|
rs116464756
|
0.00241
|
NM_006310.4(NPEPPS):c.2617G>C (p.Glu873Gln)
|
rs34598464
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)
|
rs116836001
|
0.00235
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg)
|
rs139767464
|
0.00226
|
NM_000552.5(VWF):c.385C>A (p.Leu129Met)
|
rs61753991
|
0.00225
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)
|
rs55724159
|
0.00220
|
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)
|
rs202071528
|
0.00219
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)
|
rs61750625
|
0.00217
|
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)
|
rs139539448
|
0.00217
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
NM_003954.5(MAP3K14):c.2290A>G (p.Thr764Ala)
|
rs56302559
|
0.00209
|
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
0.00209
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)
|
rs76773981
|
0.00207
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
NM_002454.3(MTRR):c.1982A>G (p.His661Arg)
|
rs148909799
|
0.00196
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_006437.4(PARP4):c.3777A>T (p.Glu1259Asp)
|
rs61739727
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)
|
rs147410912
|
0.00176
|
NM_006587.4(CORIN):c.1081G>A (p.Val361Met)
|
rs139499566
|
0.00175
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_019076.5(UGT1A8):c.855+64203C>A
|
rs141393523
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_000178.4(GSS):c.973C>T (p.Pro325Ser)
|
rs11905938
|
0.00171
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_002296.4(LBR):c.866G>A (p.Gly289Glu)
|
rs148541545
|
0.00171
|
NM_002439.5(MSH3):c.1897-12T>A
|
rs56244266
|
0.00171
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
NM_003696.3(OR6A2):c.447_456del (p.Met149fs)
|
rs555709554
|
0.00169
|
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala)
|
rs143743709
|
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_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr)
|
rs191656121
|
0.00156
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)
|
rs80120302
|
0.00153
|
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)
|
rs200382813
|
0.00153
|
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
|
rs144060377
|
0.00151
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
NM_000637.5(GSR):c.866T>C (p.Val289Ala)
|
rs151187899
|
0.00150
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)
|
rs201597047
|
0.00150
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
0.00150
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
NM_001093.4(ACACB):c.2872G>A (p.Val958Met)
|
rs139511102
|
0.00147
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
|
rs76458556
|
0.00145
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)
|
rs79730689
|
0.00145
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
NM_000316.3(PTH1R):c.988+16G>A
|
rs140651831
|
0.00136
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
0.00135
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)
|
rs146205352
|
0.00135
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_152611.5(LRRN4):c.88G>A (p.Val30Ile)
|
rs202129771
|
0.00130
|
NM_000552.5(VWF):c.304G>A (p.Val102Met)
|
rs147514785
|
0.00127
|
NM_001146105.2(PARP9):c.1652T>C (p.Ile551Thr)
|
rs143155766
|
0.00127
|
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)
|
rs190791051
|
0.00126
|
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
|
rs138105395
|
0.00125
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
NM_003501.3(ACOX3):c.1814C>T (p.Ala605Val)
|
rs143748739
|
0.00123
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)
|
rs142939330
|
0.00122
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val)
|
rs138655269
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met)
|
rs114523965
|
0.00120
|
NM_003567.4(BCAR3):c.1073G>A (p.Ser358Asn)
|
rs142961077
|
0.00120
|
NM_021939.4(FKBP10):c.1667G>A (p.Arg556His)
|
rs138281924
|
0.00120
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)
|
rs141783863
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu)
|
rs375721812
|
0.00118
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_013373.4(ZDHHC8):c.761T>C (p.Val254Ala)
|
rs147362841
|
0.00116
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_003004.3(SECTM1):c.523C>T (p.Gln175Ter)
|
rs139132437
|
0.00115
|
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)
|
rs200900510
|
0.00113
|
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)
|
rs202127176
|
0.00112
|
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp)
|
rs34331388
|
0.00111
|
NM_000552.5(VWF):c.974G>T (p.Cys325Phe)
|
rs11837584
|
0.00111
|
NM_001099409.3(EHBP1L1):c.3245A>G (p.Asp1082Gly)
|
rs185664667
|
0.00111
|
NM_003322.6(TULP1):c.797G>T (p.Gly266Val)
|
rs150480343
|
0.00111
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)
|
rs201950081
|
0.00109
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter)
|
rs139849511
|
0.00108
|
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val)
|
rs151282774
|
0.00108
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met)
|
rs201226914
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_001350145.3(PATJ):c.5137G>A (p.Gly1713Arg)
|
rs141549230
|
0.00105
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
0.00105
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His)
|
rs759627248
|
0.00103
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_002838.5(PTPRC):c.1297G>A (p.Asp433Asn)
|
rs140403368
|
0.00103
|
NM_178493.6(NOTUM):c.1279A>G (p.Thr427Ala)
|
rs141138398
|
0.00102
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys)
|
rs144829001
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser)
|
rs199904529
|
0.00099
|
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)
|
rs148600818
|
0.00099
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_019590.5(KIAA1217):c.2698T>C (p.Ser900Pro)
|
rs147898647
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)
|
rs78219242
|
0.00095
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn)
|
rs142237067
|
0.00094
|
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn)
|
rs138304419
|
0.00093
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)
|
rs149894086
|
0.00092
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser)
|
rs142250261
|
0.00091
|
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln)
|
rs151259375
|
0.00091
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
0.00091
|
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)
|
rs200170585
|
0.00090
|
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)
|
rs140368756
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu)
|
rs200227715
|
0.00087
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)
|
rs149388376
|
0.00086
|
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)
|
rs148035648
|
0.00085
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)
|
rs61745147
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352
|
0.00083
|
NM_004086.3(COCH):c.1348A>G (p.Ile450Val)
|
rs139503327
|
0.00083
|
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile)
|
rs2229490
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)
|
rs142284613
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)
|
rs530387460
|
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_000243.3(MEFV):c.1382G>A (p.Arg461Gln)
|
rs145637617
|
0.00076
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_003122.5(SPINK1):c.-147A>G
|
rs779832256
|
0.00075
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)
|
rs117188693
|
0.00075
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys)
|
rs74056058
|
0.00074
|
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr)
|
rs55831733
|
0.00074
|
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)
|
rs114212275
|
0.00073
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_001244008.2(KIF1A):c.1208-40G>A
|
rs375833834
|
0.00073
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro)
|
rs199537186
|
0.00073
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)
|
rs148558068
|
0.00070
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)
|
rs146505418
|
0.00068
|
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
|
rs145675502
|
0.00068
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)
|
rs200266424
|
0.00068
|
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met)
|
rs192347853
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)
|
rs202016242
|
0.00066
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00066
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00066
|
NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn)
|
rs140682366
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)
|
rs146326769
|
0.00065
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001142864.4(PIEZO1):c.3050T>C (p.Leu1017Pro)
|
rs969200104
|
0.00064
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser)
|
rs33911937
|
0.00064
|
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)
|
rs200038418
|
0.00064
|
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)
|
rs201963605
|
0.00064
|
NM_000222.3(KIT):c.503C>T (p.Ala168Val)
|
rs149092990
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)
|
rs145048530
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_025132.4(WDR19):c.1030C>G (p.His344Asp)
|
rs76599296
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_001142864.4(PIEZO1):c.6661-12T>G
|
rs540049109
|
0.00062
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)
|
rs146042595
|
0.00062
|
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg)
|
rs148414587
|
0.00061
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys)
|
rs139716832
|
0.00061
|
NM_014065.4(ASTE1):c.656C>T (p.Ala219Val)
|
rs140373702
|
0.00061
|
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=)
|
rs116558260
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_001282426.2(PIK3CG):c.1076G>A (p.Arg359His)
|
rs144565710
|
0.00059
|
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)
|
rs148828104
|
0.00059
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met)
|
rs189301790
|
0.00058
|
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)
|
rs140024352
|
0.00058
|
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)
|
rs72647372
|
0.00058
|
NR_003051.3(RMRP):n.-12A>C
|
rs372044910
|
0.00058
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_001256012.3(MYH10):c.3276C>A (p.Asp1092Glu)
|
rs138732743
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_005529.7(HSPG2):c.8354C>T (p.Pro2785Leu)
|
rs151288507
|
0.00057
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu)
|
rs538640563
|
0.00056
|
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn)
|
rs145516713
|
0.00056
|
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)
|
rs143513466
|
0.00056
|
NM_005245.4(FAT1):c.6012T>G (p.Ile2004Met)
|
rs200115380
|
0.00056
|
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His)
|
rs139327086
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)
|
rs28931583
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser)
|
rs146983090
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)
|
rs78598639
|
0.00054
|
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His)
|
rs140392638
|
0.00054
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp)
|
rs374203151
|
0.00053
|
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys)
|
rs149600837
|
0.00053
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
|
rs142580756
|
0.00052
|
NM_000384.3(APOB):c.895T>G (p.Phe299Val)
|
rs72653060
|
0.00051
|
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)
|
rs139814109
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln)
|
rs140573963
|
0.00051
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val)
|
rs142518115
|
0.00051
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn)
|
rs772788410
|
0.00050
|
NM_003501.3(ACOX3):c.311C>T (p.Pro104Leu)
|
rs114891471
|
0.00050
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00050
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_015512.5(DNAH1):c.2926G>A (p.Ala976Thr)
|
rs181919231
|
0.00050
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)
|
rs143986510
|
0.00049
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
NM_004517.4(ILK):c.157T>A (p.Leu53Met)
|
rs200336608
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_014945.5(ABLIM3):c.1537C>T (p.Arg513Cys)
|
rs148988138
|
0.00049
|
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)
|
rs150268016
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
|
rs61749376
|
0.00048
|
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys)
|
rs201188632
|
0.00048
|
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)
|
rs187264529
|
0.00048
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu)
|
rs372641908
|
0.00047
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
|
rs144199299
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr)
|
rs45515602
|
0.00046
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His)
|
rs146513976
|
0.00045
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly)
|
rs138792321
|
0.00045
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)
|
rs201153804
|
0.00045
|
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)
|
rs146348439
|
0.00044
|
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)
|
rs371084271
|
0.00044
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro)
|
rs150061926
|
0.00043
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
NM_004563.4(PCK2):c.1679G>A (p.Arg560Gln)
|
rs144284959
|
0.00043
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu)
|
rs141039852
|
0.00043
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)
|
rs150550013
|
0.00042
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00041
|
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)
|
rs201406712
|
0.00041
|
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)
|
rs57307513
|
0.00041
|
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala)
|
rs550993341
|
0.00041
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)
|
rs189652973
|
0.00041
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)
|
rs201514157
|
0.00041
|
NM_006461.4(SPAG5):c.3386T>A (p.Met1129Lys)
|
rs143230550
|
0.00041
|
NM_000065.5(C6):c.186A>C (p.Glu62Asp)
|
rs200359838
|
0.00040
|
NM_000178.4(GSS):c.598G>A (p.Gly200Ser)
|
rs193267972
|
0.00040
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_019075.4(UGT1A10):c.855+44822C>T
|
rs151080578
|
0.00040
|
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00040
|
NM_001146105.2(PARP9):c.2385T>A (p.Asp795Glu)
|
rs139596846
|
0.00039
|
NM_001146105.2(PARP9):c.2387A>C (p.Tyr796Ser)
|
rs151012219
|
0.00039
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln)
|
rs138561555
|
0.00039
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00038
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg)
|
rs76459136
|
0.00038
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_005529.7(HSPG2):c.7444C>G (p.Gln2482Glu)
|
rs140049357
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00036
|
NM_002661.5(PLCG2):c.707C>T (p.Pro236Leu)
|
rs199760975
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile)
|
rs200506675
|
0.00036
|
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
|
rs143764931
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys)
|
rs143562358
|
0.00036
|
NM_020884.7(MYH7B):c.5206A>C (p.Lys1736Gln)
|
rs201800075
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)
|
rs151227843
|
0.00036
|
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
|
rs202150959
|
0.00036
|
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_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln)
|
rs141473928
|
0.00035
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00035
|
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys)
|
rs369531662
|
0.00035
|
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
|
rs370351723
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_001081.4(CUBN):c.1349G>A (p.Gly450Asp)
|
rs146463364
|
0.00034
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser)
|
rs146686472
|
0.00034
|
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)
|
rs200641225
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu)
|
rs369539291
|
0.00034
|
NM_000459.5(TEK):c.1507A>G (p.Thr503Ala)
|
rs200574110
|
0.00033
|
NM_001006658.3(CR2):c.2006A>G (p.His669Arg)
|
rs139230275
|
0.00033
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)
|
rs145766839
|
0.00032
|
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys)
|
rs184921605
|
0.00032
|
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)
|
rs145387221
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
NM_006206.6(PDGFRA):c.2306A>T (p.Lys769Met)
|
rs373061721
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)
|
rs554690506
|
0.00031
|
NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala)
|
rs748155949
|
0.00031
|
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)
|
rs148099152
|
0.00031
|
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)
|
rs117287351
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001276345.2(TNNT2):c.720-13_720-11del
|
rs397516480
|
0.00031
|
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu)
|
rs201285077
|
0.00031
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_005529.7(HSPG2):c.6289G>A (p.Val2097Met)
|
rs143419262
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)
|
rs147540469
|
0.00031
|
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)
|
rs61745496
|
0.00031
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)
|
rs201746476
|
0.00030
|
NM_001302769.2(PARD3B):c.3574A>T (p.Thr1192Ser)
|
rs372502220
|
0.00030
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu)
|
rs550358395
|
0.00029
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser)
|
rs74844886
|
0.00029
|
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp)
|
rs200031013
|
0.00029
|
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)
|
rs139166382
|
0.00029
|
NM_001365951.3(KIF1B):c.2115+7081C>T
|
rs376558549
|
0.00029
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)
|
rs143392370
|
0.00029
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
NM_019075.4(UGT1A10):c.855+44982G>C
|
rs72551332
|
0.00029
|
NM_053025.4(MYLK):c.2125G>A (p.Val709Met)
|
rs112537316
|
0.00029
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
NM_198525.3(KIF7):c.2675G>A (p.Arg892His)
|
rs143866575
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001365951.3(KIF1B):c.2115+6313G>A
|
rs374263753
|
0.00028
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys)
|
rs141200414
|
0.00028
|
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp)
|
rs146286188
|
0.00028
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
NM_005689.4(ABCB6):c.2215C>T (p.Arg739Cys)
|
rs141840760
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)
|
rs201160833
|
0.00028
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln)
|
rs202162034
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)
|
rs138338096
|
0.00027
|
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)
|
rs149129214
|
0.00027
|
NM_002693.3(POLG):c.391T>C (p.Tyr131His)
|
rs562847013
|
0.00027
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000178.4(GSS):c.596A>G (p.Tyr199Cys)
|
rs138659144
|
0.00026
|
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)
|
rs146854942
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val)
|
rs779745348
|
0.00026
|
NM_001062.4(TCN1):c.980C>G (p.Pro327Arg)
|
rs36044892
|
0.00026
|
NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His)
|
rs199557318
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
NM_001302769.2(PARD3B):c.3457G>C (p.Gly1153Arg)
|
rs556736288
|
0.00026
|
NM_001350145.3(PATJ):c.4546G>T (p.Val1516Leu)
|
rs144983546
|
0.00026
|
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)
|
rs143599352
|
0.00026
|
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg)
|
rs104895423
|
0.00026
|
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)
|
rs139519507
|
0.00026
|
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490
|
0.00026
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
NM_080823.4(SRMS):c.1145C>T (p.Pro382Leu)
|
rs374780062
|
0.00026
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
NM_001243133.2(NLRP3):c.2668G>T (p.Val890Leu)
|
rs193085132
|
0.00025
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
NM_001355436.2(SPTB):c.1261G>C (p.Glu421Gln)
|
rs142982338
|
0.00025
|
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys)
|
rs143293179
|
0.00025
|
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)
|
rs201984007
|
0.00025
|
NM_003567.4(BCAR3):c.2273G>A (p.Arg758Gln)
|
rs140641625
|
0.00025
|
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His)
|
rs149479865
|
0.00025
|
NM_006371.5(CRTAP):c.49G>A (p.Val17Met)
|
rs200576259
|
0.00025
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)
|
rs370608825
|
0.00024
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile)
|
rs142757938
|
0.00024
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)
|
rs375818733
|
0.00024
|
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu)
|
rs5743275
|
0.00024
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser)
|
rs113605039
|
0.00024
|
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile)
|
rs147076980
|
0.00024
|
NM_006310.4(NPEPPS):c.2158G>A (p.Ala720Thr)
|
rs368658252
|
0.00024
|
NM_017636.4(TRPM4):c.566C>T (p.Ala189Val)
|
rs145501662
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu)
|
rs201042606
|
0.00024
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)
|
rs62621089
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001364905.1(LRBA):c.3262G>C (p.Glu1088Gln)
|
rs142075710
|
0.00023
|
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val)
|
rs140416653
|
0.00023
|
NM_014653.4(WSCD2):c.721G>A (p.Asp241Asn)
|
rs183614363
|
0.00023
|
NM_015836.4(WARS2):c.404G>A (p.Arg135Gln)
|
rs147962776
|
0.00023
|
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)
|
rs372214186
|
0.00023
|
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr)
|
rs376067427
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro)
|
rs146576868
|
0.00023
|
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)
|
rs139089832
|
0.00023
|
NM_000071.3(CBS):c.1273G>A (p.Val425Met)
|
rs138211175
|
0.00022
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly)
|
rs147058538
|
0.00022
|
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
|
rs148355969
|
0.00022
|
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile)
|
rs144602692
|
0.00022
|
NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly)
|
rs151321990
|
0.00022
|
NM_001999.4(FBN2):c.5917+9T>G
|
rs371439173
|
0.00022
|
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)
|
rs200751434
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_182925.5(FLT4):c.1133G>A (p.Arg378His)
|
rs200763913
|
0.00022
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
NM_000178.4(GSS):c.1054G>A (p.Ala352Thr)
|
rs143974068
|
0.00021
|
NM_000188.3(HK1):c.1433A>G (p.His478Arg)
|
rs144282713
|
0.00021
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu)
|
rs568280615
|
0.00021
|
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)
|
rs200511467
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu)
|
rs150078153
|
0.00021
|
NM_001377500.1(EFCC1):c.1529G>A (p.Arg510Gln)
|
rs144132700
|
0.00021
|
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)
|
rs371244800
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_004239.4(TRIP11):c.1375G>A (p.Ala459Thr)
|
rs372171033
|
0.00021
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00021
|
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser)
|
rs137853908
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys)
|
rs117016551
|
0.00021
|
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly)
|
rs140353351
|
0.00021
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)
|
rs201859188
|
0.00020
|
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)
|
rs375816870
|
0.00020
|
NM_001666.5(ARHGAP4):c.2113G>A (p.Val705Ile)
|
rs369228747
|
0.00020
|
NM_001753.5(CAV1):c.54C>G (p.Ile18Met)
|
rs150051547
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004563.4(PCK2):c.1079C>T (p.Thr360Ile)
|
rs141823645
|
0.00020
|
NM_005529.7(HSPG2):c.4598C>T (p.Pro1533Leu)
|
rs367842568
|
0.00020
|
NM_005529.7(HSPG2):c.8149G>A (p.Ala2717Thr)
|
rs145524347
|
0.00020
|
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)
|
rs567310076
|
0.00020
|
NM_145201.6(NAPRT):c.692C>T (p.Ala231Val)
|
rs201161077
|
0.00020
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
NM_000088.4(COL1A1):c.3100-6C>T
|
rs377123276
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000151.4(G6PC1):c.81G>C (p.Gln27His)
|
rs371611000
|
0.00019
|
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser)
|
rs142422341
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
NM_001109754.4(PTPRB):c.3448G>T (p.Gly1150Trp)
|
rs147424169
|
0.00019
|
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile)
|
rs776788949
|
0.00019
|
NM_001142864.4(PIEZO1):c.4291G>C (p.Ala1431Pro)
|
rs200653120
|
0.00019
|
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)
|
rs201420077
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala)
|
rs145940356
|
0.00019
|
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)
|
rs377612718
|
0.00019
|
NM_001364905.1(LRBA):c.3914G>A (p.Arg1305His)
|
rs144754728
|
0.00019
|
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu)
|
rs191971137
|
0.00019
|
NM_001379610.1(SPINK1):c.-53C>T
|
rs367798627
|
0.00019
|
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro)
|
rs140516168
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_003884.5(KAT2B):c.592A>G (p.Ile198Val)
|
rs182486173
|
0.00019
|
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=)
|
rs145033378
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln)
|
rs143706338
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys)
|
rs572706456
|
0.00019
|
NM_015512.5(DNAH1):c.11683A>G (p.Met3895Val)
|
rs376301831
|
0.00019
|
NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr)
|
rs200083635
|
0.00019
|
NM_019590.5(KIAA1217):c.2740G>C (p.Ala914Pro)
|
rs141672009
|
0.00019
|
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122
|
0.00019
|
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)
|
rs183367929
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_032811.3(TBRG1):c.1234T>C (p.Ter412Arg)
|
rs143285657
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_001126121.2(SLC25A19):c.610A>C (p.Lys204Gln)
|
rs145088715
|
0.00018
|
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=)
|
rs756830252
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)
|
rs201586544
|
0.00018
|
NM_001498.4(GCLC):c.264-11C>A
|
rs199775302
|
0.00018
|
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)
|
rs201822255
|
0.00018
|
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp)
|
rs148098950
|
0.00018
|
NM_005529.7(HSPG2):c.4571C>T (p.Ala1524Val)
|
rs144546505
|
0.00018
|
NM_012452.3(TNFRSF13B):c.171G>C (p.Gln57His)
|
rs149084717
|
0.00018
|
NM_015059.3(TLN2):c.5500G>A (p.Glu1834Lys)
|
rs200375758
|
0.00018
|
NM_015059.3(TLN2):c.6889G>A (p.Val2297Met)
|
rs200187638
|
0.00018
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn)
|
rs201825699
|
0.00017
|
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser)
|
rs377198201
|
0.00017
|
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)
|
rs201844450
|
0.00017
|
NM_005548.3(KARS1):c.63-2663C>T
|
rs371452227
|
0.00017
|
NM_019844.4(SLCO1B3):c.1794_1795del (p.Cys599fs)
|
rs766686725
|
0.00017
|
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)
|
rs148535388
|
0.00017
|
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val)
|
rs371940683
|
0.00017
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
0.00016
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_000548.5(TSC2):c.2356-15T>A
|
rs189674303
|
0.00016
|
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val)
|
rs150923481
|
0.00016
|
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu)
|
rs528532732
|
0.00016
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu)
|
rs747301309
|
0.00016
|
NM_001142864.4(PIEZO1):c.7183G>A (p.Ala2395Thr)
|
rs1018199395
|
0.00016
|
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln)
|
rs773860217
|
0.00016
|
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)
|
rs137852754
|
0.00016
|
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)
|
rs144693278
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr)
|
rs200321239
|
0.00016
|
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln)
|
rs761660130
|
0.00016
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg)
|
rs181766682
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)
|
rs117836686
|
0.00016
|
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser)
|
rs189284385
|
0.00016
|
NM_001395413.1(POR):c.1208G>A (p.Arg403His)
|
rs72557929
|
0.00016
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_003122.5(SPINK1):c.-142T>C
|
rs755968566
|
0.00016
|
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp)
|
rs199725919
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004444.5(EPHB4):c.1692-8G>A
|
rs372971671
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)
|
rs150514959
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000552.5(VWF):c.4024C>T (p.Arg1342Cys)
|
rs61749404
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met)
|
rs201746408
|
0.00015
|
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu)
|
rs374244985
|
0.00015
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
NM_002626.6(PFKL):c.1537C>T (p.Arg513Cys)
|
rs142506467
|
0.00015
|
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)
|
rs140414666
|
0.00015
|
NM_005391.5(PDK3):c.304C>T (p.Pro102Ser)
|
rs375475050
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_021254.4(CFAP298):c.674A>G (p.Gln225Arg)
|
rs374753522
|
0.00015
|
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly)
|
rs541264551
|
0.00015
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00015
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)
|
rs200642204
|
0.00014
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr)
|
rs201989712
|
0.00014
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
NM_000552.5(VWF):c.706C>T (p.Arg236Cys)
|
rs140912382
|
0.00014
|
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser)
|
rs78306886
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr)
|
rs148491916
|
0.00014
|
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met)
|
rs782180774
|
0.00014
|
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr)
|
rs757753448
|
0.00014
|
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)
|
rs868678918
|
0.00014
|
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)
|
rs138001307
|
0.00014
|
NM_001199397.3(NEK1):c.1387G>A (p.Ala463Thr)
|
rs748009953
|
0.00014
|
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)
|
rs199620003
|
0.00014
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001370466.1(NOD2):c.2465+2dup
|
rs748508924
|
0.00014
|
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly)
|
rs536353066
|
0.00014
|
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val)
|
rs376665722
|
0.00014
|
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His)
|
rs188580757
|
0.00014
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00014
|
NM_004239.4(TRIP11):c.5719+2T>C
|
rs199736345
|
0.00014
|
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met)
|
rs368132510
|
0.00014
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
NM_006231.4(POLE):c.1583C>T (p.Thr528Met)
|
rs116263919
|
0.00014
|
NM_006506.5(RASA2):c.1079C>G (p.Ala360Gly)
|
rs369032376
|
0.00014
|
NM_006767.4(LZTR1):c.2407-18G>A
|
rs542841506
|
0.00014
|
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys)
|
rs201072058
|
0.00014
|
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)
|
rs146450828
|
0.00014
|
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)
|
rs754321329
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)
|
rs373799322
|
0.00013
|
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln)
|
rs1800569
|
0.00013
|
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val)
|
rs17135779
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001142864.4(PIEZO1):c.4289A>T (p.Glu1430Val)
|
rs202066744
|
0.00013
|
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)
|
rs377063950
|
0.00013
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)
|
rs747531733
|
0.00013
|
NM_002626.6(PFKL):c.343G>A (p.Val115Ile)
|
rs371821359
|
0.00013
|
NM_002907.4(RECQL):c.468T>G (p.Ile156Met)
|
rs777214281
|
0.00013
|
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)
|
rs370004702
|
0.00013
|
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn)
|
rs121908135
|
0.00013
|
NM_133379.5(TTN):c.15778A>G (p.Ile5260Val)
|
rs369214339
|
0.00013
|
NM_172201.2(KCNE2):c.-13+5G>A
|
rs786205806
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr)
|
rs199473146
|
0.00012
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys)
|
rs552562531
|
0.00012
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)
|
rs374394719
|
0.00012
|
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00012
|
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)
|
rs537908254
|
0.00012
|
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)
|
rs80338765
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)
|
rs142354704
|
0.00012
|
NM_000065.5(C6):c.1205T>C (p.Ile402Thr)
|
rs139261476
|
0.00011
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)
|
rs759074046
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
rs764274816
|
0.00011
|
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)
|
rs199937453
|
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_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met)
|
rs199723856
|
0.00011
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_000651.6(CR1):c.6325G>A (p.Gly2109Ser)
|
rs369023282
|
0.00011
|
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser)
|
rs144641461
|
0.00011
|
NM_001037.5(SCN1B):c.448+40G>A
|
rs199685662
|
0.00011
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)
|
rs201774098
|
0.00011
|
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys)
|
rs200024502
|
0.00011
|
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His)
|
rs371267171
|
0.00011
|
NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met)
|
rs151082668
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)
|
rs138750421
|
0.00011
|
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)
|
rs201945791
|
0.00011
|
NM_001355436.2(SPTB):c.4891C>T (p.Arg1631Cys)
|
rs372503030
|
0.00011
|
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)
|
rs759003928
|
0.00011
|
NM_002230.4(JUP):c.352G>A (p.Glu118Lys)
|
rs149004293
|
0.00011
|
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn)
|
rs371667049
|
0.00011
|
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val)
|
rs113316011
|
0.00011
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg)
|
rs121918644
|
0.00011
|
NM_003239.5(TGFB3):c.757G>A (p.Val253Met)
|
rs532517095
|
0.00011
|
NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met)
|
rs368497178
|
0.00011
|
NM_006182.4(DDR2):c.784G>A (p.Glu262Lys)
|
rs371402503
|
0.00011
|
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys)
|
rs143247306
|
0.00011
|
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)
|
rs144158469
|
0.00011
|
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val)
|
rs150894548
|
0.00011
|
NM_030973.4(MED25):c.1438C>G (p.Leu480Val)
|
rs148214958
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=)
|
rs377231739
|
0.00011
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys)
|
rs144170209
|
0.00010
|
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)
|
rs61749664
|
0.00010
|
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His)
|
rs777999727
|
0.00010
|
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)
|
rs150838063
|
0.00010
|
NM_000384.3(APOB):c.434C>T (p.Pro145Leu)
|
rs181737266
|
0.00010
|
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn)
|
rs374847529
|
0.00010
|
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)
|
rs139753238
|
0.00010
|
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu)
|
rs201374966
|
0.00010
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln)
|
rs752372837
|
0.00010
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu)
|
rs371752190
|
0.00010
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001379180.1(ESRRB):c.1177G>A (p.Glu393Lys)
|
rs747893418
|
0.00010
|
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)
|
rs199997425
|
0.00010
|
NM_001972.4(ELANE):c.23C>T (p.Ala8Val)
|
rs201961347
|
0.00010
|
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp)
|
rs200465713
|
0.00010
|
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys)
|
rs111033564
|
0.00010
|
NM_003322.6(TULP1):c.1133G>A (p.Arg378His)
|
rs148749577
|
0.00010
|
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)
|
rs374993642
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_004655.4(AXIN2):c.1376G>A (p.Arg459His)
|
rs368525111
|
0.00010
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met)
|
rs181428774
|
0.00010
|
NM_005529.7(HSPG2):c.3119A>G (p.Glu1040Gly)
|
rs370768382
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn)
|
rs146627447
|
0.00010
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)
|
rs201779159
|
0.00010
|
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met)
|
rs764173526
|
0.00010
|
NM_022124.6(CDH23):c.137C>T (p.Thr46Met)
|
rs727504613
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys)
|
rs183319660
|
0.00010
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)
|
rs138396959
|
0.00009
|
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val)
|
rs777906405
|
0.00009
|
NM_000141.5(FGFR2):c.1565A>T (p.Asp522Val)
|
rs756076618
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys)
|
rs775105018
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)
|
rs143033456
|
0.00009
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)
|
rs143980575
|
0.00009
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000717.5(CA4):c.415A>T (p.Met139Leu)
|
rs185658468
|
0.00009
|
NM_001005918.2(ATP7B):c.-116G>A
|
rs965523214
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu)
|
rs781966924
|
0.00009
|
NM_001105578.2(SYCE2):c.178T>C (p.Phe60Leu)
|
rs746914782
|
0.00009
|
NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu)
|
rs370592431
|
0.00009
|
NM_001142864.4(PIEZO1):c.1387G>A (p.Ala463Thr)
|
rs768658743
|
0.00009
|
NM_001142864.4(PIEZO1):c.3083G>A (p.Arg1028His)
|
rs750862705
|
0.00009
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
NM_001142864.4(PIEZO1):c.6553G>A (p.Ala2185Thr)
|
rs376951269
|
0.00009
|
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)
|
rs752213208
|
0.00009
|
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=)
|
rs375309925
|
0.00009
|
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln)
|
rs551905996
|
0.00009
|
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)
|
rs552058608
|
0.00009
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
NM_001267550.2(TTN):c.40082T>A (p.Ile13361Asn)
|
rs568151115
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
NM_001355436.2(SPTB):c.3395C>T (p.Thr1132Met)
|
rs186859277
|
0.00009
|
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln)
|
rs141173028
|
0.00009
|
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met)
|
rs199588089
|
0.00009
|
NM_001365536.1(SCN9A):c.361A>C (p.Lys121Gln)
|
rs200486515
|
0.00009
|
NM_001366122.1(KCP):c.3715G>A (p.Val1239Met)
|
rs749697029
|
0.00009
|
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe)
|
rs149002807
|
0.00009
|
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn)
|
rs372930296
|
0.00009
|
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)
|
rs201132307
|
0.00009
|
NM_002471.4(MYH6):c.3139C>T (p.Arg1047Cys)
|
rs755565288
|
0.00009
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)
|
rs369671890
|
0.00009
|
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn)
|
rs758281375
|
0.00009
|
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_014317.5(PDSS1):c.968C>T (p.Thr323Ile)
|
rs370033107
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_021939.4(FKBP10):c.473T>C (p.Val158Ala)
|
rs781874365
|
0.00009
|
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn)
|
rs758565663
|
0.00009
|
NM_024577.4(SH3TC2):c.3712C>A (p.Leu1238Met)
|
rs757548779
|
0.00009
|
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser)
|
rs142694017
|
0.00009
|
NM_181882.3(PRX):c.862G>A (p.Val288Met)
|
rs568618329
|
0.00009
|
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val)
|
rs140850000
|
0.00009
|
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)
|
rs372109796
|
0.00008
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)
|
rs373056282
|
0.00008
|
NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg)
|
rs146163188
|
0.00008
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met)
|
rs576710089
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_001110556.2(FLNA):c.4304-25_4304-17del
|
rs782740969
|
0.00008
|
NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp)
|
rs772572550
|
0.00008
|
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys)
|
rs104895445
|
0.00008
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)
|
rs368451573
|
0.00008
|
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)
|
rs145074004
|
0.00008
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp)
|
rs372000848
|
0.00008
|
NM_006231.4(POLE):c.5480C>T (p.Ser1827Leu)
|
rs763031537
|
0.00008
|
NM_006461.4(SPAG5):c.3354+1G>A
|
rs752232373
|
0.00008
|
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)
|
rs373488966
|
0.00008
|
NM_014391.3(ANKRD1):c.133C>G (p.Leu45Val)
|
rs372030578
|
0.00008
|
NM_014845.6(FIG4):c.101C>T (p.Thr34Met)
|
rs375691683
|
0.00008
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
NM_014931.4(PPP6R1):c.830A>T (p.Glu277Val)
|
rs774457916
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_017780.4(CHD7):c.127A>G (p.Ile43Val)
|
rs201542180
|
0.00008
|
NM_024637.5(GAL3ST4):c.538C>T (p.Arg180Cys)
|
rs374392589
|
0.00008
|
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)
|
rs201983087
|
0.00008
|
NM_080680.3(COL11A2):c.539G>A (p.Arg180His)
|
rs142462583
|
0.00008
|
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr)
|
rs141821444
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000431.4(MVK):c.331G>A (p.Ala111Thr)
|
rs371257609
|
0.00007
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00007
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_001013703.4(EIF2AK4):c.668C>G (p.Ala223Gly)
|
rs199807868
|
0.00007
|
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met)
|
rs144025957
|
0.00007
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
NM_001355436.2(SPTB):c.3029G>A (p.Arg1010His)
|
rs556377923
|
0.00007
|
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val)
|
rs778728934
|
0.00007
|
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg)
|
rs148043654
|
0.00007
|
NM_001498.4(GCLC):c.646C>G (p.Pro216Ala)
|
rs369815397
|
0.00007
|
NM_001711.6(BGN):c.167C>T (p.Thr56Ile)
|
rs199564098
|
0.00007
|
NM_001972.4(ELANE):c.524C>T (p.Thr175Met)
|
rs193141883
|
0.00007
|
NM_001972.4(ELANE):c.68-13G>A
|
rs371409487
|
0.00007
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
NM_002386.4(MC1R):c.467T>C (p.Val156Ala)
|
rs201975178
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)
|
rs368996545
|
0.00007
|
NM_004006.3(DMD):c.6953C>T (p.Ala2318Val)
|
rs771215006
|
0.00007
|
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
0.00007
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
NM_004563.4(PCK2):c.1447A>G (p.Thr483Ala)
|
rs541220581
|
0.00007
|
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)
|
rs200544452
|
0.00007
|
NM_005529.7(HSPG2):c.7151G>A (p.Arg2384Gln)
|
rs144498303
|
0.00007
|
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)
|
rs71524377
|
0.00007
|
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)
|
rs28937890
|
0.00007
|
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn)
|
rs764427452
|
0.00007
|
NM_007215.4(POLG2):c.328C>G (p.Leu110Val)
|
rs782703026
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_018127.7(ELAC2):c.1799A>G (p.His600Arg)
|
rs764718787
|
0.00007
|
NM_021939.4(FKBP10):c.1556C>T (p.Pro519Leu)
|
rs140883152
|
0.00007
|
NM_177438.3(DICER1):c.179C>T (p.Thr60Ile)
|
rs587778228
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile)
|
rs142803502
|
0.00006
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00006
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
NM_000178.4(GSS):c.1318G>A (p.Val440Met)
|
rs371147790
|
0.00006
|
NM_000178.4(GSS):c.994C>T (p.Arg332Cys)
|
rs568602749
|
0.00006
|
NM_000245.4(MET):c.22G>A (p.Ala8Thr)
|
rs758564871
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_000384.3(APOB):c.3449T>A (p.Met1150Lys)
|
rs146223051
|
0.00006
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu)
|
rs144978321
|
0.00006
|
NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile)
|
rs143573365
|
0.00006
|
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
|
rs36076514
|
0.00006
|
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe)
|
rs139214514
|
0.00006
|
NM_000492.4(CFTR):c.2145A>C (p.Gln715His)
|
rs141235765
|
0.00006
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_001039141.3(TRIOBP):c.2869C>G (p.Gln957Glu)
|
rs370714631
|
0.00006
|
NM_001081.4(CUBN):c.7400A>G (p.Asn2467Ser)
|
rs200197243
|
0.00006
|
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)
|
rs781860863
|
0.00006
|
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)
|
rs200836471
|
0.00006
|
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)
|
rs769040794
|
0.00006
|
NM_001142864.4(PIEZO1):c.2158C>T (p.Arg720Cys)
|
rs781141758
|
0.00006
|
NM_001142864.4(PIEZO1):c.6070C>T (p.Arg2024Cys)
|
rs549757408
|
0.00006
|
NM_001145809.2(MYH14):c.4219C>T (p.Arg1407Cys)
|
rs535145284
|
0.00006
|
NM_001148.6(ANK2):c.11525G>A (p.Arg3842Gln)
|
rs770954138
|
0.00006
|
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)
|
rs375139170
|
0.00006
|
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser)
|
rs199517145
|
0.00006
|
NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu)
|
rs369410320
|
0.00006
|
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)
|
rs377032453
|
0.00006
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)
|
rs551063889
|
0.00006
|
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)
|
rs773027240
|
0.00006
|
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His)
|
rs200217934
|
0.00006
|
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)
|
rs761241302
|
0.00006
|
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)
|
rs374119634
|
0.00006
|
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)
|
rs760230943
|
0.00006
|
NM_001291303.3(FAT4):c.10750C>G (p.Leu3584Val)
|
rs751277769
|
0.00006
|
NM_001355436.2(SPTB):c.2290C>T (p.Arg764Trp)
|
rs376198076
|
0.00006
|
NM_001355436.2(SPTB):c.5726T>C (p.Phe1909Ser)
|
rs576500528
|
0.00006
|
NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr)
|
rs112462309
|
0.00006
|
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln)
|
rs371696267
|
0.00006
|
NM_001372179.1(PABPC1L):c.1517G>A (p.Arg506Gln)
|
rs374958444
|
0.00006
|
NM_001377.3(DYNC2H1):c.8882C>T (p.Ala2961Val)
|
rs900234882
|
0.00006
|
NM_001379610.1(SPINK1):c.-15C>T
|
rs148434824
|
0.00006
|
NM_001457.4(FLNB):c.2968C>T (p.Pro990Ser)
|
rs747564760
|
0.00006
|
NM_001457.4(FLNB):c.7690G>A (p.Val2564Ile)
|
rs759652781
|
0.00006
|
NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser)
|
rs147154581
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His)
|
rs368584364
|
0.00006
|
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)
|
rs397516762
|
0.00006
|
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)
|
rs369950711
|
0.00006
|
NM_002691.4(POLD1):c.14G>A (p.Arg5Gln)
|
rs748471297
|
0.00006
|
NM_002972.4(SBF1):c.3968G>A (p.Arg1323Gln)
|
rs746388522
|
0.00006
|
NM_002972.4(SBF1):c.4975C>T (p.Arg1659Cys)
|
rs748396110
|
0.00006
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)
|
rs776167946
|
0.00006
|
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met)
|
rs199723919
|
0.00006
|
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)
|
rs145819459
|
0.00006
|
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)
|
rs201487919
|
0.00006
|
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys)
|
rs200205409
|
0.00006
|
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His)
|
rs775389963
|
0.00006
|
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp)
|
rs535956121
|
0.00006
|
NM_005548.3(KARS1):c.979A>G (p.Ile327Val)
|
rs372994342
|
0.00006
|
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
|
rs767494615
|
0.00006
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
NM_006231.4(POLE):c.5553-12C>G
|
rs766922669
|
0.00006
|
NM_006587.4(CORIN):c.1061G>A (p.Arg354His)
|
rs147781342
|
0.00006
|
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)
|
rs139261473
|
0.00006
|
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln)
|
rs375611364
|
0.00006
|
NM_015271.5(TRIM2):c.346G>A (p.Val116Met)
|
rs763365056
|
0.00006
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu)
|
rs730880972
|
0.00006
|
NM_017636.4(TRPM4):c.3304T>G (p.Ser1102Ala)
|
rs759574423
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
NM_019075.4(UGT1A10):c.855+45231T>C
|
rs773325642
|
0.00006
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys)
|
rs727505254
|
0.00006
|
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
|
rs759989953
|
0.00006
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys)
|
rs202223681
|
0.00006
|
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala)
|
rs763880352
|
0.00006
|
NM_080863.5(ASB16):c.1055G>A (p.Arg352His)
|
rs369327186
|
0.00006
|
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)
|
rs74315449
|
0.00006
|
NM_173495.3(PTCHD1):c.881G>A (p.Arg294His)
|
rs1438077547
|
0.00006
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser)
|
rs747674900
|
0.00006
|
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)
|
rs143900928
|
0.00006
|
NM_198253.3(TERT):c.-57A>C
|
rs878855297
|
0.00006
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
NM_000022.4(ADA):c.757C>T (p.Arg253Trp)
|
rs201944717
|
0.00005
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.5675-13T>A
|
rs373219694
|
0.00005
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
rs372188754
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000071.3(CBS):c.953C>T (p.Thr318Met)
|
rs769541394
|
0.00005
|
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)
|
rs772929903
|
0.00005
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu)
|
rs766692124
|
0.00005
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
NM_000384.3(APOB):c.8149G>A (p.Ala2717Thr)
|
rs753292024
|
0.00005
|
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)
|
rs372220538
|
0.00005
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)
|
rs139972151
|
0.00005
|
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His)
|
rs200370335
|
0.00005
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
NM_001039141.3(TRIOBP):c.3386C>T (p.Ala1129Val)
|
rs752938356
|
0.00005
|
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)
|
rs782739586
|
0.00005
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
NM_001142864.4(PIEZO1):c.2842C>T (p.Arg948Cys)
|
rs12929515
|
0.00005
|
NM_001142864.4(PIEZO1):c.4499G>A (p.Arg1500Gln)
|
rs1461948204
|
0.00005
|
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)
|
rs906425217
|
0.00005
|
NM_001142864.4(PIEZO1):c.6479C>T (p.Pro2160Leu)
|
rs753068603
|
0.00005
|
NM_001146069.2(MFSD10):c.343G>C (p.Gly115Arg)
|
rs368324724
|
0.00005
|
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)
|
rs147458476
|
0.00005
|
NM_001148.6(ANK2):c.2900+5143G>A
|
rs368551890
|
0.00005
|
NM_001159773.2(CANT1):c.119G>A (p.Arg40His)
|
rs375819727
|
0.00005
|
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu)
|
rs779634939
|
0.00005
|
NM_001204.7(BMPR2):c.2186G>C (p.Gly729Ala)
|
rs201816099
|
0.00005
|
NM_001235.5(SERPINH1):c.336C>T (p.Gly112=)
|
rs775801195
|
0.00005
|
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg)
|
rs376857772
|
0.00005
|
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala)
|
rs940553223
|
0.00005
|
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)
|
rs72650062
|
0.00005
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys)
|
rs757820671
|
0.00005
|
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)
|
rs758534800
|
0.00005
|
NM_001365536.1(SCN9A):c.1115G>A (p.Arg372His)
|
rs201071819
|
0.00005
|
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile)
|
rs757989638
|
0.00005
|
NM_001365536.1(SCN9A):c.390G>T (p.Met130Ile)
|
rs376036522
|
0.00005
|
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp)
|
rs62029861
|
0.00005
|
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)
|
rs139571975
|
0.00005
|
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln)
|
rs752842243
|
0.00005
|
NM_001457.4(FLNB):c.2965G>A (p.Val989Met)
|
rs76471260
|
0.00005
|
NM_001458.5(FLNC):c.5842+7C>T
|
rs370905549
|
0.00005
|
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)
|
rs372221218
|
0.00005
|
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)
|
rs369025432
|
0.00005
|
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)
|
rs762139261
|
0.00005
|
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His)
|
rs761191746
|
0.00005
|
NM_002635.4(SLC25A3):c.761G>A (p.Ser254Asn)
|
rs117836188
|
0.00005
|
NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys)
|
rs143816549
|
0.00005
|
NM_003126.4(SPTA1):c.1814C>A (p.Ala605Glu)
|
rs929351807
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004655.4(AXIN2):c.2140C>T (p.Arg714Trp)
|
rs148765149
|
0.00005
|
NM_004655.4(AXIN2):c.563A>G (p.Gln188Arg)
|
rs149000772
|
0.00005
|
NM_005529.7(HSPG2):c.764C>T (p.Pro255Leu)
|
rs369712921
|
0.00005
|
NM_005529.7(HSPG2):c.9836A>G (p.Asn3279Ser)
|
rs368694894
|
0.00005
|
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln)
|
rs774110970
|
0.00005
|
NM_006231.4(POLE):c.3857G>A (p.Arg1286His)
|
rs771823596
|
0.00005
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)
|
rs377360782
|
0.00005
|
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp)
|
rs759146033
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)
|
rs199736893
|
0.00005
|
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg)
|
rs35898320
|
0.00005
|
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)
|
rs193245630
|
0.00005
|
NM_022114.4(PRDM16):c.1796C>T (p.Ser599Leu)
|
rs367734333
|
0.00005
|
NM_147127.5(EVC2):c.446G>A (p.Arg149His)
|
rs202198132
|
0.00005
|
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
rs762213719
|
0.00005
|
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile)
|
rs752804141
|
0.00005
|
NM_000037.4(ANK1):c.1480G>A (p.Ala494Thr)
|
rs190256257
|
0.00004
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile)
|
rs769641351
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)
|
rs188723332
|
0.00004
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
NM_000188.3(HK1):c.97G>A (p.Asp33Asn)
|
rs375425117
|
0.00004
|
NM_000238.4(KCNH2):c.2398+156G>A
|
rs139247073
|
0.00004
|
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)
|
rs768473920
|
0.00004
|
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)
|
rs138498376
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)
|
rs1453842331
|
0.00004
|
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
|
rs768393069
|
0.00004
|
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)
|
rs782179888
|
0.00004
|
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)
|
rs199473335
|
0.00004
|
NM_000342.4(SLC4A1):c.787C>T (p.Arg263Cys)
|
rs145071135
|
0.00004
|
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr)
|
rs774442561
|
0.00004
|
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp)
|
rs750570720
|
0.00004
|
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met)
|
rs371176740
|
0.00004
|
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
|
rs779314594
|
0.00004
|
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)
|
rs553752236
|
0.00004
|
NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val)
|
rs1333719360
|
0.00004
|
NM_000463.3(UGT1A1):c.643A>G (p.Ile215Val)
|
rs144398951
|
0.00004
|
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)
|
rs200899224
|
0.00004
|
NM_000492.4(CFTR):c.26C>T (p.Ala9Val)
|
rs949472192
|
0.00004
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.355A>G (p.Ile119Val)
|
rs193922518
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_000492.4(CFTR):c.454A>T (p.Met152Leu)
|
rs397508721
|
0.00004
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_000552.5(VWF):c.1514G>A (p.Arg505His)
|
rs139830291
|
0.00004
|
NM_000558.3(HBA1):c.193G>C (p.Asp65His)
|
rs33984024
|
0.00004
|
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)
|
rs376530064
|
0.00004
|
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)
|
rs371702432
|
0.00004
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
NM_001024630.4(RUNX2):c.304A>G (p.Met102Val)
|
rs376849024
|
0.00004
|
NM_001036.6(RYR3):c.11891C>T (p.Ser3964Leu)
|
rs750201337
|
0.00004
|
NM_001039753.4(EML6):c.5773G>A (p.Gly1925Ser)
|
rs933526960
|
0.00004
|
NM_001040716.2(PC):c.2489G>A (p.Arg830His)
|
rs773519800
|
0.00004
|
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile)
|
rs148540952
|
0.00004
|
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val)
|
rs772570411
|
0.00004
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln)
|
rs779186692
|
0.00004
|
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met)
|
rs775326454
|
0.00004
|
NM_001142864.4(PIEZO1):c.3154C>G (p.Gln1052Glu)
|
rs922414644
|
0.00004
|
NM_001142864.4(PIEZO1):c.6375G>A (p.Val2125=)
|
rs948359372
|
0.00004
|
NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys)
|
rs148257675
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
|
rs727504515
|
0.00004
|
NM_001267550.2(TTN):c.31070A>G (p.His10357Arg)
|
rs1343660563
|
0.00004
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)
|
rs761815745
|
0.00004
|
NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys)
|
rs199656264
|
0.00004
|
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)
|
rs556286196
|
0.00004
|
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg)
|
rs201430346
|
0.00004
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
NM_001267550.2(TTN):c.78929C>T (p.Pro26310Leu)
|
rs754702040
|
0.00004
|
NM_001267550.2(TTN):c.86873G>A (p.Ser28958Asn)
|
rs199639729
|
0.00004
|
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu)
|
rs774632104
|
0.00004
|
NM_001282225.2(ADA2):c.1442+6T>C
|
rs369050563
|
0.00004
|
NM_001282426.2(PIK3CG):c.2455G>A (p.Asp819Asn)
|
rs370034420
|
0.00004
|
NM_001355436.2(SPTB):c.1492C>T (p.Arg498Cys)
|
rs144624027
|
0.00004
|
NM_001355436.2(SPTB):c.3622C>T (p.Arg1208Trp)
|
rs374240422
|
0.00004
|
NM_001355436.2(SPTB):c.5036C>T (p.Ala1679Val)
|
rs774655120
|
0.00004
|
NM_001355436.2(SPTB):c.6193T>G (p.Phe2065Val)
|
rs143894722
|
0.00004
|
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu)
|
rs372850864
|
0.00004
|
NM_001376013.1(EPB41):c.827G>A (p.Arg276His)
|
rs141150801
|
0.00004
|
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val)
|
rs765998830
|
0.00004
|
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp)
|
rs758118161
|
0.00004
|
NM_001393985.1(ANKRD24):c.3322G>A (p.Val1108Met)
|
rs367894541
|
0.00004
|
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala)
|
rs763590899
|
0.00004
|
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg)
|
rs199913294
|
0.00004
|
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)
|
rs772994944
|
0.00004
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu)
|
rs764238525
|
0.00004
|
NM_002230.4(JUP):c.1280C>T (p.Thr427Met)
|
rs781982717
|
0.00004
|
NM_002296.4(LBR):c.851C>T (p.Thr284Met)
|
rs371750924
|
0.00004
|
NM_002386.4(MC1R):c.865T>C (p.Cys289Arg)
|
rs369542041
|
0.00004
|
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys)
|
rs201683868
|
0.00004
|
NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp)
|
rs939496859
|
0.00004
|
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)
|
rs571504063
|
0.00004
|
NM_002474.3(MYH11):c.769G>A (p.Val257Met)
|
rs112992497
|
0.00004
|
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)
|
rs149964928
|
0.00004
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
NM_002691.4(POLD1):c.2549G>A (p.Arg850His)
|
rs764432550
|
0.00004
|
NM_002838.5(PTPRC):c.2320C>T (p.Arg774Trp)
|
rs200672643
|
0.00004
|
NM_003126.4(SPTA1):c.1904C>A (p.Thr635Asn)
|
rs751943864
|
0.00004
|
NM_003126.4(SPTA1):c.2029A>G (p.Lys677Glu)
|
rs761960429
|
0.00004
|
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)
|
rs3737521
|
0.00004
|
NM_003126.4(SPTA1):c.5303C>T (p.Ala1768Val)
|
rs762636926
|
0.00004
|
NM_003126.4(SPTA1):c.803G>A (p.Arg268Gln)
|
rs374770233
|
0.00004
|
NM_003364.4(UPP1):c.415A>T (p.Ile139Phe)
|
rs201545473
|
0.00004
|
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)
|
rs142019584
|
0.00004
|
NM_003680.4(YARS1):c.483G>C (p.Leu161=)
|
rs780528629
|
0.00004
|
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)
|
rs371723224
|
0.00004
|
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu)
|
rs750418813
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln)
|
rs144277716
|
0.00004
|
NM_005529.7(HSPG2):c.202G>A (p.Asp68Asn)
|
rs746978748
|
0.00004
|
NM_005529.7(HSPG2):c.2165A>G (p.His722Arg)
|
rs1279178543
|
0.00004
|
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)
|
rs121434296
|
0.00004
|
NM_006231.4(POLE):c.4556G>A (p.Arg1519His)
|
rs376530977
|
0.00004
|
NM_006437.4(PARP4):c.3713G>A (p.Arg1238Gln)
|
rs766631344
|
0.00004
|
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala)
|
rs748082803
|
0.00004
|
NM_006587.4(CORIN):c.1624T>A (p.Ser542Thr)
|
rs374976508
|
0.00004
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
NM_007272.3(CTRC):c.286G>A (p.Glu96Lys)
|
rs144286923
|
0.00004
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
NM_014000.3(VCL):c.1928C>T (p.Thr643Met)
|
rs150643310
|
0.00004
|
NM_014727.3(KMT2B):c.118G>A (p.Ala40Thr)
|
rs992191926
|
0.00004
|
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala)
|
rs762777348
|
0.00004
|
NM_018979.4(WNK1):c.187A>C (p.Lys63Gln)
|
rs780699781
|
0.00004
|
NM_019075.4(UGT1A10):c.855+45414T>C
|
rs147013594
|
0.00004
|
NM_019594.4(LRRC8A):c.1064C>T (p.Ser355Leu)
|
rs150868273
|
0.00004
|
NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile)
|
rs376754153
|
0.00004
|
NM_020779.4(WDR35):c.836A>G (p.Gln279Arg)
|
rs375814330
|
0.00004
|
NM_021008.4(DEAF1):c.316G>A (p.Val106Met)
|
rs143376874
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys)
|
rs773087313
|
0.00004
|
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)
|
rs142891020
|
0.00004
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
NM_032211.7(LOXL4):c.407G>A (p.Arg136His)
|
rs377758453
|
0.00004
|
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr)
|
rs777088052
|
0.00004
|
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg)
|
rs368413008
|
0.00004
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_144573.4(NEXN):c.836G>A (p.Arg279His)
|
rs750349053
|
0.00004
|
NM_144997.7(FLCN):c.43G>A (p.Gly15Ser)
|
rs539468848
|
0.00004
|
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro)
|
rs142730611
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_176795.5(HRAS):c.481G>A (p.Gly161Arg)
|
rs750721065
|
0.00004
|
NM_177438.3(DICER1):c.1468C>T (p.Arg490Cys)
|
rs777894117
|
0.00004
|
NM_181882.3(PRX):c.1391G>A (p.Arg464Gln)
|
rs553211374
|
0.00004
|
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln)
|
rs776100963
|
0.00004
|
NM_182961.4(SYNE1):c.3493C>T (p.Arg1165Cys)
|
rs777507702
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)
|
rs372684079
|
0.00003
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile)
|
rs761147984
|
0.00003
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys)
|
rs80358606
|
0.00003
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
NM_000071.3(CBS):c.1106G>A (p.Arg369His)
|
rs11700812
|
0.00003
|
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)
|
rs550867796
|
0.00003
|
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu)
|
rs779540528
|
0.00003
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000141.5(FGFR2):c.344G>A (p.Ser115Asn)
|
rs867109770
|
0.00003
|
NM_000142.5(FGFR3):c.1283A>G (p.Asn428Ser)
|
rs138986264
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000188.3(HK1):c.1549C>T (p.Arg517Trp)
|
rs568551856
|
0.00003
|
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)
|
rs745839954
|
0.00003
|
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)
|
rs749671520
|
0.00003
|
NM_000257.4(MYH7):c.1625A>G (p.Lys542Arg)
|
rs863224645
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000298.6(PKLR):c.1619-3C>A
|
rs777609966
|
0.00003
|
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)
|
rs199473197
|
0.00003
|
NM_000335.5(SCN5A):c.4532G>A (p.Arg1511Gln)
|
rs368219299
|
0.00003
|
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys)
|
rs201143887
|
0.00003
|
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr)
|
rs148342166
|
0.00003
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys)
|
rs55750087
|
0.00003
|
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)
|
rs397978903
|
0.00003
|
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)
|
rs397508185
|
0.00003
|
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)
|
rs773018372
|
0.00003
|
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser)
|
rs138069616
|
0.00003
|
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe)
|
rs149662778
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)
|
rs138222146
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000552.5(VWF):c.2025G>A (p.Pro675=)
|
rs779045480
|
0.00003
|
NM_000552.5(VWF):c.3097_3099dup (p.Asp1033dup)
|
rs752219725
|
0.00003
|
NM_000795.4(DRD2):c.947A>C (p.His316Pro)
|
rs1182082677
|
0.00003
|
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)
|
rs375646186
|
0.00003
|
NM_000942.5(PPIB):c.445G>A (p.Gly149Ser)
|
rs768639196
|
0.00003
|
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg)
|
rs533659697
|
0.00003
|
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser)
|
rs1211697062
|
0.00003
|
NM_001013627.3(NHSL2):c.3065T>C (p.Met1022Thr)
|
rs1005411920
|
0.00003
|
NM_001032386.2(SUOX):c.739C>A (p.Leu247Met)
|
rs765859233
|
0.00003
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
NM_001039213.4(CEACAM16):c.828C>A (p.Asp276Glu)
|
rs554754239
|
0.00003
|
NM_001040272.6(ADAMTSL1):c.4046G>C (p.Gly1349Ala)
|
rs780406019
|
0.00003
|
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)
|
rs753189381
|
0.00003
|
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)
|
rs587782773
|
0.00003
|
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln)
|
rs201994938
|
0.00003
|
NM_001072.4(UGT1A6):c.214T>C (p.Tyr72His)
|
rs757592840
|
0.00003
|
NM_001072.4(UGT1A6):c.348G>C (p.Met116Ile)
|
rs757976622
|
0.00003
|
NM_001099409.3(EHBP1L1):c.3395C>T (p.Thr1132Met)
|
rs1416059116
|
0.00003
|
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln)
|
rs1375382054
|
0.00003
|
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)
|
rs376774130
|
0.00003
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)
|
rs782469665
|
0.00003
|
NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val)
|
rs782714867
|
0.00003
|
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met)
|
rs782639698
|
0.00003
|
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)
|
rs782477734
|
0.00003
|
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)
|
rs371724771
|
0.00003
|
NM_001114134.2(EPB42):c.1919G>A (p.Arg640His)
|
rs1287191197
|
0.00003
|
NM_001127511.3(APC):c.1A>G (p.Met1Val)
|
rs189807660
|
0.00003
|
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)
|
rs565524160
|
0.00003
|
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His)
|
rs947487272
|
0.00003
|
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)
|
rs769506340
|
0.00003
|
NM_001142864.4(PIEZO1):c.5390G>A (p.Arg1797His)
|
rs759786040
|
0.00003
|
NM_001142864.4(PIEZO1):c.6754-15G>A
|
rs761514562
|
0.00003
|
NM_001145809.2(MYH14):c.1418G>A (p.Arg473His)
|
rs199812021
|
0.00003
|
NM_001145809.2(MYH14):c.5963G>A (p.Arg1988His)
|
rs376315069
|
0.00003
|
NM_001159699.2(FHL1):c.816C>T (p.Ser272=)
|
rs758552293
|
0.00003
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)
|
rs138784081
|
0.00003
|
NM_001243133.2(NLRP3):c.269C>T (p.Pro90Leu)
|
rs145774400
|
0.00003
|
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln)
|
rs754476903
|
0.00003
|
NM_001267550.2(TTN):c.28643C>T (p.Thr9548Met)
|
rs752064053
|
0.00003
|
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)
|
rs770684884
|
0.00003
|
NM_001355436.2(SPTB):c.4147C>A (p.Leu1383Met)
|
rs367610564
|
0.00003
|
NM_001355436.2(SPTB):c.5287A>G (p.Ser1763Gly)
|
rs200617821
|
0.00003
|
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)
|
rs201354321
|
0.00003
|
NM_001365536.1(SCN9A):c.1660C>A (p.Leu554Ile)
|
rs201994523
|
0.00003
|
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)
|
rs104895486
|
0.00003
|
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter)
|
rs757487598
|
0.00003
|
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter)
|
rs781333877
|
0.00003
|
NM_001371279.1(REEP1):c.806C>T (p.Ser269Phe)
|
rs200537429
|
0.00003
|
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His)
|
rs370220133
|
0.00003
|
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=)
|
rs772002773
|
0.00003
|
NM_001395413.1(POR):c.162C>G (p.Phe54Leu)
|
rs927062544
|
0.00003
|
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp)
|
rs72557950
|
0.00003
|
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala)
|
rs147481678
|
0.00003
|
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)
|
rs374294752
|
0.00003
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
NM_001851.6(COL9A1):c.876+1G>C
|
rs202232444
|
0.00003
|
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)
|
rs370650204
|
0.00003
|
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)
|
rs370804151
|
0.00003
|
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)
|
rs779483120
|
0.00003
|
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)
|
rs369070016
|
0.00003
|
NM_002109.6(HARS1):c.797G>A (p.Arg266His)
|
rs765223763
|
0.00003
|
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
rs1225363387
|
0.00003
|
NM_002296.4(LBR):c.227G>A (p.Arg76Gln)
|
rs749991297
|
0.00003
|
NM_002296.4(LBR):c.262G>A (p.Gly88Ser)
|
rs754965227
|
0.00003
|
NM_002471.4(MYH6):c.1960C>T (p.Arg654Trp)
|
rs369938365
|
0.00003
|
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro)
|
rs749159160
|
0.00003
|
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr)
|
rs376197467
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_002907.4(RECQL):c.1426G>A (p.Asp476Asn)
|
rs200259739
|
0.00003
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met)
|
rs147677656
|
0.00003
|
NM_003126.4(SPTA1):c.2542C>T (p.Arg848Cys)
|
rs781647129
|
0.00003
|
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)
|
rs201463616
|
0.00003
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)
|
rs757051948
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00003
|
NM_004006.3(DMD):c.2780C>T (p.Ala927Val)
|
rs41312094
|
0.00003
|
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)
|
rs772732788
|
0.00003
|
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln)
|
rs759306485
|
0.00003
|
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile)
|
rs142078341
|
0.00003
|
NM_004239.4(TRIP11):c.460C>T (p.Pro154Ser)
|
rs201247031
|
0.00003
|
NM_004260.4(RECQL4):c.1100G>A (p.Arg367Gln)
|
rs766344677
|
0.00003
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
NM_004817.4(TJP2):c.2880+8G>A
|
rs756700057
|
0.00003
|
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)
|
rs369313141
|
0.00003
|
NM_005138.3(SCO2):c.193G>A (p.Gly65Ser)
|
rs1268301469
|
0.00003
|
NM_005142.3(CBLIF):c.497C>T (p.Ser166Phe)
|
rs766117701
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_005359.6(SMAD4):c.332A>C (p.His111Pro)
|
rs1064794363
|
0.00003
|
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys)
|
rs750467268
|
0.00003
|
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser)
|
rs768946900
|
0.00003
|
NM_006070.6(TFG):c.1154G>A (p.Arg385His)
|
rs373719892
|
0.00003
|
NM_006231.4(POLE):c.1138G>T (p.Gly380Cys)
|
rs199746481
|
0.00003
|
NM_006231.4(POLE):c.274A>C (p.Ser92Arg)
|
rs758382516
|
0.00003
|
NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys)
|
rs55929201
|
0.00003
|
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)
|
rs201538234
|
0.00003
|
NM_006363.6(SEC23B):c.103G>A (p.Val35Ile)
|
rs147576961
|
0.00003
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
NM_014000.3(VCL):c.1841C>T (p.Thr614Met)
|
rs748140302
|
0.00003
|
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val)
|
rs747089502
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
NM_017636.4(TRPM4):c.3023C>T (p.Ala1008Val)
|
rs756361248
|
0.00003
|
NM_018319.4(TDP1):c.731C>G (p.Pro244Arg)
|
rs779863680
|
0.00003
|
NM_018979.4(WNK1):c.130G>A (p.Ala44Thr)
|
rs764240024
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn)
|
rs199793172
|
0.00003
|
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)
|
rs186942719
|
0.00003
|
NM_024009.3(GJB3):c.589G>A (p.Val197Ile)
|
rs376506263
|
0.00003
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
NM_025132.4(WDR19):c.288G>A (p.Met96Ile)
|
rs374891297
|
0.00003
|
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly)
|
rs779719772
|
0.00003
|
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser)
|
rs757524646
|
0.00003
|
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)
|
rs562253142
|
0.00003
|
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)
|
rs773218631
|
0.00003
|
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala)
|
rs142952894
|
0.00003
|
NM_152743.4(BRAT1):c.139G>A (p.Val47Met)
|
rs769700664
|
0.00003
|
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln)
|
rs768605521
|
0.00003
|
NC_000011.10:g.5227261C>T
|
rs753344875
|
0.00002
|
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)
|
rs754756970
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
rs587782737
|
0.00002
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00002
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)
|
rs763456705
|
0.00002
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val)
|
rs746734591
|
0.00002
|
NM_000112.4(SLC26A2):c.740A>G (p.Tyr247Cys)
|
rs768745973
|
0.00002
|
NM_000132.4(F8):c.5999-11G>A
|
rs782132907
|
0.00002
|
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)
|
rs121913112
|
0.00002
|
NM_000178.4(GSS):c.842A>G (p.Glu281Gly)
|
rs372680407
|
0.00002
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)
|
rs200108320
|
0.00002
|
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu)
|
rs780041404
|
0.00002
|
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr)
|
rs199473014
|
0.00002
|
NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala)
|
rs41313764
|
0.00002
|
NM_000243.3(MEFV):c.1234A>G (p.Ile412Val)
|
rs1434076108
|
0.00002
|
NM_000243.3(MEFV):c.1782G>A (p.Gln594=)
|
rs144122901
|
0.00002
|
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
rs201766654
|
0.00002
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
NM_000298.6(PKLR):c.341T>C (p.Ile114Thr)
|
rs779517988
|
0.00002
|
NM_000298.6(PKLR):c.86T>C (p.Ile29Thr)
|
rs142735355
|
0.00002
|
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu)
|
rs1085307517
|
0.00002
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000337.6(SGCD):c.298A>C (p.Asn100His)
|
rs1436273126
|
0.00002
|
NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala)
|
rs769462475
|
0.00002
|
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe)
|
rs572942248
|
0.00002
|
NM_000384.3(APOB):c.7727G>A (p.Arg2576His)
|
rs759057929
|
0.00002
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
NM_000431.4(MVK):c.178C>T (p.Arg60Trp)
|
rs202167435
|
0.00002
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr)
|
rs769377991
|
0.00002
|
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu)
|
rs752834717
|
0.00002
|
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr)
|
rs115762793
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)
|
rs777006583
|
0.00002
|
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys)
|
rs777166275
|
0.00002
|
NM_000552.5(VWF):c.4123C>T (p.Pro1375Ser)
|
rs751767496
|
0.00002
|
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)
|
rs539403694
|
0.00002
|
NM_000744.7(CHRNA4):c.971C>T (p.Thr324Met)
|
rs531615515
|
0.00002
|
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)
|
rs140053197
|
0.00002
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00002
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
NM_001040108.2(MLH3):c.962T>C (p.Met321Thr)
|
rs1004768761
|
0.00002
|
NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp)
|
rs782434042
|
0.00002
|
NM_001110556.2(FLNA):c.3515G>A (p.Arg1172Gln)
|
rs782694926
|
0.00002
|
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln)
|
rs1483960506
|
0.00002
|
NM_001126121.2(SLC25A19):c.125G>A (p.Arg42His)
|
rs763480652
|
0.00002
|
NM_001142864.4(PIEZO1):c.4007T>C (p.Ile1336Thr)
|
rs141785047
|
0.00002
|
NM_001142864.4(PIEZO1):c.4009G>A (p.Asp1337Asn)
|
rs904289669
|
0.00002
|
NM_001148.6(ANK2):c.10882G>T (p.Ala3628Ser)
|
rs765610365
|
0.00002
|
NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile)
|
rs773907372
|
0.00002
|
NM_001148.6(ANK2):c.2900+5165A>G
|
rs759647520
|
0.00002
|
NM_001148.6(ANK2):c.3373G>C (p.Asp1125His)
|
rs1043468981
|
0.00002
|
NM_001164508.2(NEB):c.8860G>T (p.Ala2954Ser)
|
rs764538619
|
0.00002
|
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp)
|
rs768252357
|
0.00002
|
NM_001244008.2(KIF1A):c.2934C>T (p.Gly978=)
|
rs751977290
|
0.00002
|
NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg)
|
rs762113080
|
0.00002
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
NM_001267550.2(TTN):c.51500C>T (p.Thr17167Ile)
|
rs749322226
|
0.00002
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe)
|
rs773806020
|
0.00002
|
NM_001267550.2(TTN):c.76592T>C (p.Phe25531Ser)
|
rs976954474
|
0.00002
|
NM_001267550.2(TTN):c.99605T>C (p.Leu33202Pro)
|
rs370632563
|
0.00002
|
NM_001284401.2(TAMM41):c.896C>T (p.Pro299Leu)
|
rs969996683
|
0.00002
|
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
|
rs1482880426
|
0.00002
|
NM_001355436.2(SPTB):c.5267G>T (p.Arg1756Leu)
|
rs776376302
|
0.00002
|
NM_001355436.2(SPTB):c.5737C>T (p.Arg1913Cys)
|
rs752611530
|
0.00002
|
NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro)
|
rs929734499
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys)
|
rs782216807
|
0.00002
|
NM_001365536.1(SCN9A):c.1650C>G (p.Ser550Arg)
|
rs200192044
|
0.00002
|
NM_001365951.3(KIF1B):c.2605G>A (p.Glu869Lys)
|
rs370243199
|
0.00002
|
NM_001370466.1(NOD2):c.1923del (p.His642fs)
|
rs758485603
|
0.00002
|
NM_001378414.1(HDAC4):c.2821G>A (p.Val941Met)
|
rs757439665
|
0.00002
|
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala)
|
rs773177128
|
0.00002
|
NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys)
|
rs536331212
|
0.00002
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly)
|
rs776744207
|
0.00002
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
|
rs754884110
|
0.00002
|
NM_001999.4(FBN2):c.5815G>A (p.Glu1939Lys)
|
rs779671043
|
0.00002
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)
|
rs755437836
|
0.00002
|
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr)
|
rs759499740
|
0.00002
|
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu)
|
rs782130740
|
0.00002
|
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr)
|
rs748143404
|
0.00002
|
NM_002495.4(NDUFS4):c.487A>G (p.Asn163Asp)
|
rs371127738
|
0.00002
|
NM_002661.5(PLCG2):c.652C>A (p.Leu218Ile)
|
rs551539187
|
0.00002
|
NM_002691.4(POLD1):c.2624G>A (p.Arg875His)
|
rs754832710
|
0.00002
|
NM_002972.4(SBF1):c.2899A>G (p.Ile967Val)
|
rs376364128
|
0.00002
|
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)
|
rs149091125
|
0.00002
|
NM_003051.4(SLC16A1):c.1285G>A (p.Val429Ile)
|
rs151166713
|
0.00002
|
NM_003072.5(SMARCA4):c.4310G>A (p.Ser1437Asn)
|
rs1402031100
|
0.00002
|
NM_003072.5(SMARCA4):c.4311C>A (p.Ser1437Arg)
|
rs1392263235
|
0.00002
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg)
|
rs1469938477
|
0.00002
|
NM_003126.4(SPTA1):c.2894G>T (p.Cys965Phe)
|
rs765999382
|
0.00002
|
NM_003126.4(SPTA1):c.3019C>T (p.Leu1007Phe)
|
rs201324641
|
0.00002
|
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val)
|
rs1474433492
|
0.00002
|
NM_004006.3(DMD):c.1536C>A (p.His512Gln)
|
rs776446238
|
0.00002
|
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu)
|
rs773897036
|
0.00002
|
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys)
|
rs771231109
|
0.00002
|
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp)
|
rs573012389
|
0.00002
|
NM_004104.5(FASN):c.3302C>T (p.Ser1101Leu)
|
rs143739434
|
0.00002
|
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe)
|
rs143756613
|
0.00002
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
NM_005529.7(HSPG2):c.3010T>A (p.Ser1004Thr)
|
rs775214455
|
0.00002
|
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)
|
rs56248239
|
0.00002
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)
|
rs543542721
|
0.00002
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
NM_006506.5(RASA2):c.350G>A (p.Arg117His)
|
rs752928043
|
0.00002
|
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser)
|
rs774224466
|
0.00002
|
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)
|
rs370521488
|
0.00002
|
NM_007272.3(CTRC):c.607G>A (p.Ala203Thr)
|
rs750408563
|
0.00002
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr)
|
rs147519994
|
0.00002
|
NM_012062.5(DNM1L):c.2135A>C (p.Glu712Ala)
|
rs759154998
|
0.00002
|
NM_014000.3(VCL):c.2905G>A (p.Ala969Thr)
|
rs199751261
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
NM_015275.3(WASHC4):c.1673T>C (p.Ile558Thr)
|
rs755148123
|
0.00002
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
NM_017849.4(TMEM127):c.253A>G (p.Met85Val)
|
rs771261665
|
0.00002
|
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)
|
rs769900670
|
0.00002
|
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser)
|
rs764415717
|
0.00002
|
NM_020435.4(GJC2):c.550G>A (p.Ala184Thr)
|
rs758277909
|
0.00002
|
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)
|
rs760625882
|
0.00002
|
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val)
|
rs775456399
|
0.00002
|
NM_021625.5(TRPV4):c.1198C>T (p.Arg400Trp)
|
rs781711282
|
0.00002
|
NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys)
|
rs757814511
|
0.00002
|
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His)
|
rs756516383
|
0.00002
|
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His)
|
rs765298747
|
0.00002
|
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)
|
rs756754311
|
0.00002
|
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)
|
rs758677681
|
0.00002
|
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser)
|
rs189519760
|
0.00002
|
NM_024753.5(TTC21B):c.557A>G (p.Gln186Arg)
|
rs938051900
|
0.00002
|
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val)
|
rs1427374639
|
0.00002
|
NM_032638.5(GATA2):c.142T>A (p.Phe48Ile)
|
rs878855170
|
0.00002
|
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe)
|
rs752231055
|
0.00002
|
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser)
|
rs1026157995
|
0.00002
|
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His)
|
rs762795374
|
0.00002
|
NM_053025.4(MYLK):c.643A>G (p.Met215Val)
|
rs754479443
|
0.00002
|
NM_144672.4(OTOA):c.1399C>T (p.Arg467Cys)
|
rs757720270
|
0.00002
|
NM_144997.7(FLCN):c.1174C>T (p.Arg392Trp)
|
rs1060502374
|
0.00002
|
NM_147127.5(EVC2):c.2180G>A (p.Arg727His)
|
rs140363692
|
0.00002
|
NM_152232.6(TAS1R2):c.2174G>A (p.Arg725His)
|
rs768315702
|
0.00002
|
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly)
|
rs201777208
|
0.00002
|
NM_181882.3(PRX):c.3646G>A (p.Val1216Met)
|
rs774413102
|
0.00002
|
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser)
|
rs28447480
|
0.00002
|
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)
|
rs373152283
|
0.00002
|
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val)
|
rs886042054
|
0.00001
|
NM_000018.4(ACADVL):c.1006A>G (p.Ile336Val)
|
rs146369181
|
0.00001
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)
|
rs1324917279
|
0.00001
|
NM_000020.3(ACVRL1):c.238C>T (p.Arg80Cys)
|
rs756447582
|
0.00001
|
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)
|
rs782334088
|
0.00001
|
NM_000038.6(APC):c.3220A>G (p.Thr1074Ala)
|
rs962456431
|
0.00001
|
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser)
|
rs749507584
|
0.00001
|
NM_000051.4(ATM):c.1726A>G (p.Ile576Val)
|
rs1064795170
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)
|
rs398122724
|
0.00001
|
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)
|
rs80358420
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala)
|
rs1335307553
|
0.00001
|
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)
|
rs730881518
|
0.00001
|
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg)
|
rs398122761
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
NM_000059.4(BRCA2):c.4211C>T (p.Ser1404Leu)
|
rs41293489
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His)
|
rs139302211
|
0.00001
|
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly)
|
rs80358895
|
0.00001
|
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)
|
rs397507378
|
0.00001
|
NM_000059.4(BRCA2):c.7001C>T (p.Pro2334Leu)
|
rs748816192
|
0.00001
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
NM_000059.4(BRCA2):c.7168A>G (p.Asn2390Asp)
|
rs876660772
|
0.00001
|
NM_000059.4(BRCA2):c.788G>C (p.Ser263Thr)
|
rs1555281480
|
0.00001
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
NM_000077.5(CDKN2A):c.425A>G (p.His142Arg)
|
rs759922342
|
0.00001
|
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala)
|
rs762809403
|
0.00001
|
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val)
|
rs1339193404
|
0.00001
|
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr)
|
rs374095521
|
0.00001
|
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His)
|
rs767925708
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
|
rs188120737
|
0.00001
|
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)
|
rs776748227
|
0.00001
|
NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His)
|
rs778249693
|
0.00001
|
NM_000098.3(CPT2):c.1049G>A (p.Arg350His)
|
rs773966429
|
0.00001
|
NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser)
|
rs201012489
|
0.00001
|
NM_000124.4(ERCC6):c.4126G>C (p.Asp1376His)
|
rs1255657939
|
0.00001
|
NM_000132.4(F8):c.6991A>T (p.Ser2331Cys)
|
rs1557271047
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)
|
rs759674700
|
0.00001
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
NM_000141.5(FGFR2):c.2245A>G (p.Thr749Ala)
|
rs754928713
|
0.00001
|
NM_000142.5(FGFR3):c.343C>G (p.Gln115Glu)
|
rs746468796
|
0.00001
|
NM_000143.4(FH):c.1471T>C (p.Tyr491His)
|
rs749713004
|
0.00001
|
NM_000178.4(GSS):c.130G>T (p.Val44Leu)
|
rs1348966186
|
0.00001
|
NM_000178.4(GSS):c.916A>G (p.Lys306Glu)
|
rs1440600097
|
0.00001
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys)
|
rs730881797
|
0.00001
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
NM_000179.3(MSH6):c.958C>A (p.Pro320Thr)
|
rs754879198
|
0.00001
|
NM_000184.3(HBG2):c.398A>C (p.Lys133Thr)
|
rs1361182977
|
0.00001
|
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met)
|
rs199472693
|
0.00001
|
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro)
|
rs780236727
|
0.00001
|
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)
|
rs778135438
|
0.00001
|
NM_000238.4(KCNH2):c.2996G>A (p.Ser999Asn)
|
rs974699160
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
rs779022887
|
0.00001
|
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu)
|
rs876659252
|
0.00001
|
NM_000249.4(MLH1):c.650G>A (p.Arg217His)
|
rs762099920
|
0.00001
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
NM_000251.3(MSH2):c.440T>G (p.Val147Gly)
|
rs760851623
|
0.00001
|
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser)
|
rs1233448699
|
0.00001
|
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys)
|
rs773190246
|
0.00001
|
NM_000255.4(MMUT):c.1357G>A (p.Gly453Ser)
|
rs1022821298
|
0.00001
|
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu)
|
rs730880577
|
0.00001
|
NM_000256.3(MYBPC3):c.3223A>G (p.Thr1075Ala)
|
rs767927162
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile)
|
rs1162724549
|
0.00001
|
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys)
|
rs202019439
|
0.00001
|
NM_000298.6(PKLR):c.292T>A (p.Ser98Thr)
|
rs1302535902
|
0.00001
|
NM_000298.6(PKLR):c.638T>C (p.Val213Ala)
|
rs200979497
|
0.00001
|
NM_000311.5(PRNP):c.143G>A (p.Arg48His)
|
rs945136467
|
0.00001
|
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val)
|
rs727503407
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.916C>G (p.Leu306Val)
|
rs748956841
|
0.00001
|
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=)
|
rs375136281
|
0.00001
|
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala)
|
rs766885976
|
0.00001
|
NM_000342.4(SLC4A1):c.490G>A (p.Ala164Thr)
|
rs543366685
|
0.00001
|
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser)
|
rs886046563
|
0.00001
|
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu)
|
rs775087568
|
0.00001
|
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val)
|
rs1354859002
|
0.00001
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
NM_000371.4(TTR):c.263T>C (p.Ile88Thr)
|
rs1567946180
|
0.00001
|
NM_000384.3(APOB):c.9770A>G (p.Asn3257Ser)
|
rs146178619
|
0.00001
|
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val)
|
rs1391129049
|
0.00001
|
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)
|
rs575864379
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_000398.7(CYB5R3):c.21+4910G>C
|
rs1356643970
|
0.00001
|
NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met)
|
rs768095972
|
0.00001
|
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys)
|
rs752858179
|
0.00001
|
NM_000431.4(MVK):c.151C>T (p.Leu51Phe)
|
rs892779197
|
0.00001
|
NM_000431.4(MVK):c.512G>A (p.Gly171Glu)
|
rs753599820
|
0.00001
|
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)
|
rs754815179
|
0.00001
|
NM_000435.3(NOTCH3):c.3919A>G (p.Thr1307Ala)
|
rs1331244525
|
0.00001
|
NM_000448.3(RAG1):c.1467G>C (p.Arg489Ser)
|
rs1270133689
|
0.00001
|
NM_000455.5(STK11):c.1167C>G (p.Ala389=)
|
rs547919101
|
0.00001
|
NM_000459.5(TEK):c.1237C>T (p.Arg413Trp)
|
rs534867466
|
0.00001
|
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn)
|
rs267599273
|
0.00001
|
NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile)
|
rs1279219087
|
0.00001
|
NM_000478.6(ALPL):c.1349G>A (p.Arg450His)
|
rs150799088
|
0.00001
|
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val)
|
rs768243039
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser)
|
rs1368033715
|
0.00001
|
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met)
|
rs1485998437
|
0.00001
|
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu)
|
rs397508365
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)
|
rs778688276
|
0.00001
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.290T>C (p.Val97Ala)
|
rs1235363099
|
0.00001
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)
|
rs140883683
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)
|
rs150020260
|
0.00001
|
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly)
|
rs770241677
|
0.00001
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
NM_000492.4(CFTR):c.3682G>C (p.Glu1228Gln)
|
rs759116351
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln)
|
rs780785939
|
0.00001
|
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe)
|
rs1267579802
|
0.00001
|
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg)
|
rs41392146
|
0.00001
|
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)
|
rs33935445
|
0.00001
|
NM_000518.5(HBB):c.*104G>A
|
rs1564873881
|
0.00001
|
NM_000518.5(HBB):c.*74A>G
|
rs369101035
|
0.00001
|
NM_000518.5(HBB):c.123G>T (p.Arg41Ser)
|
rs33918778
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
|
rs774562271
|
0.00001
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
|
rs775361544
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000531.6(OTC):c.520G>A (p.Ala174Thr)
|
rs72556281
|
0.00001
|
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)
|
rs587782665
|
0.00001
|
NM_000536.4(RAG2):c.1526G>T (p.Gly509Val)
|
rs779267024
|
0.00001
|
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys)
|
rs267607319
|
0.00001
|
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala)
|
rs267607338
|
0.00001
|
NM_000552.5(VWF):c.4205A>G (p.Gln1402Arg)
|
rs1182668622
|
0.00001
|
NM_000558.5(HBA1):c.337C>G (p.His113Asp)
|
rs34830032
|
0.00001
|
NM_000717.5(CA4):c.90G>C (p.Glu30Asp)
|
rs376842199
|
0.00001
|
NM_000719.7(CACNA1C):c.609G>A (p.Val203=)
|
rs1417477759
|
0.00001
|
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe)
|
rs1158465434
|
0.00001
|
NM_001034853.2(RPGR):c.-16C>T
|
rs748771594
|
0.00001
|
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter)
|
rs1446308525
|
0.00001
|
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln)
|
rs967199869
|
0.00001
|
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys)
|
rs1470689668
|
0.00001
|
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu)
|
rs776018906
|
0.00001
|
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys)
|
rs1271333166
|
0.00001
|
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp)
|
rs368920731
|
0.00001
|
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu)
|
rs745561217
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)
|
rs371192107
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)
|
rs775476318
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1256A>G (p.Glu419Gly)
|
rs1454639907
|
0.00001
|
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)
|
rs34751757
|
0.00001
|
NM_001065.4(TNFRSF1A):c.323-3C>G
|
rs1328399119
|
0.00001
|
NM_001065.4(TNFRSF1A):c.914C>G (p.Pro305Arg)
|
rs1344445194
|
0.00001
|
NM_001072.4(UGT1A6):c.554G>A (p.Ser185Asn)
|
rs1300409314
|
0.00001
|
NM_001084.5(PLOD3):c.1355G>A (p.Arg452Gln)
|
rs370762684
|
0.00001
|
NM_001084.5(PLOD3):c.2200T>A (p.Ser734Thr)
|
rs1432678087
|
0.00001
|
NM_001105578.2(SYCE2):c.365A>G (p.Asn122Ser)
|
rs757137841
|
0.00001
|
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)
|
rs782791907
|
0.00001
|
NM_001110556.2(FLNA):c.1555G>A (p.Val519Met)
|
rs938952718
|
0.00001
|
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met)
|
rs1557177750
|
0.00001
|
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr)
|
rs863223639
|
0.00001
|
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys)
|
rs782689584
|
0.00001
|
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)
|
rs781878646
|
0.00001
|
NM_001130413.4(SCNN1D):c.736C>T (p.Arg246Cys)
|
rs781244314
|
0.00001
|
NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu)
|
rs375225009
|
0.00001
|
NM_001134398.2(VAV2):c.1533-8C>G
|
rs748269402
|
0.00001
|
NM_001142864.4(PIEZO1):c.2059C>T (p.Pro687Ser)
|
rs1380859676
|
0.00001
|
NM_001142864.4(PIEZO1):c.3461A>G (p.Tyr1154Cys)
|
rs1348948980
|
0.00001
|
NM_001142864.4(PIEZO1):c.3523T>G (p.Phe1175Val)
|
rs773476725
|
0.00001
|
NM_001142864.4(PIEZO1):c.6160G>C (p.Glu2054Gln)
|
rs1334902592
|
0.00001
|
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln)
|
rs559847737
|
0.00001
|
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met)
|
rs868467734
|
0.00001
|
NM_001142864.4(PIEZO1):c.6892G>A (p.Asp2298Asn)
|
rs760099159
|
0.00001
|
NM_001142864.4(PIEZO1):c.7130-5C>A
|
rs1357808025
|
0.00001
|
NM_001142864.4(PIEZO1):c.7316G>A (p.Gly2439Asp)
|
rs1353678309
|
0.00001
|
NM_001142864.4(PIEZO1):c.7387T>G (p.Ser2463Ala)
|
rs780322188
|
0.00001
|
NM_001142864.4(PIEZO1):c.880A>G (p.Thr294Ala)
|
rs1228399328
|
0.00001
|
NM_001142864.4(PIEZO1):c.881C>T (p.Thr294Ile)
|
rs930725947
|
0.00001
|
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp)
|
rs758424787
|
0.00001
|
NM_001148.6(ANK2):c.9587C>T (p.Ser3196Leu)
|
rs144719173
|
0.00001
|
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr)
|
rs772991635
|
0.00001
|
NM_001235.5(SERPINH1):c.827A>C (p.Glu276Ala)
|
rs148613550
|
0.00001
|
NM_001243133.2(NLRP3):c.431G>A (p.Ser144Asn)
|
rs768059813
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1187G>T (p.Cys396Phe)
|
rs773711263
|
0.00001
|
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp)
|
rs370253076
|
0.00001
|
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu)
|
rs780316966
|
0.00001
|
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val)
|
rs756976503
|
0.00001
|
NM_001267550.2(TTN):c.17807T>C (p.Ile5936Thr)
|
rs1365679296
|
0.00001
|
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)
|
rs537966944
|
0.00001
|
NM_001267550.2(TTN):c.24302T>A (p.Ile8101Asn)
|
rs200423910
|
0.00001
|
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln)
|
rs370072382
|
0.00001
|
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu)
|
rs1336824666
|
0.00001
|
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)
|
rs376836503
|
0.00001
|
NM_001267550.2(TTN):c.42646A>C (p.Lys14216Gln)
|
rs1450576387
|
0.00001
|
NM_001267550.2(TTN):c.48952A>C (p.Ile16318Leu)
|
rs962564634
|
0.00001
|
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)
|
rs372618781
|
0.00001
|
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys)
|
rs760963888
|
0.00001
|
NM_001267550.2(TTN):c.55480G>A (p.Gly18494Ser)
|
rs368523054
|
0.00001
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
NM_001267550.2(TTN):c.67151G>A (p.Ser22384Asn)
|
rs1451120123
|
0.00001
|
NM_001267550.2(TTN):c.72514A>G (p.Asn24172Asp)
|
rs1457842450
|
0.00001
|
NM_001267550.2(TTN):c.77984G>A (p.Gly25995Asp)
|
rs745801476
|
0.00001
|
NM_001267550.2(TTN):c.93140G>A (p.Arg31047Gln)
|
rs753897943
|
0.00001
|
NM_001267550.2(TTN):c.94486G>A (p.Glu31496Lys)
|
rs769175534
|
0.00001
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
NM_001282426.2(PIK3CG):c.1527C>A (p.Asp509Glu)
|
rs140765012
|
0.00001
|
NM_001302769.2(PARD3B):c.3042C>T (p.Asp1014=)
|
rs375164744
|
0.00001
|
NM_001303.4(COX10):c.380T>C (p.Ile127Thr)
|
rs201424119
|
0.00001
|
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter)
|
rs369917781
|
0.00001
|
NM_001350451.2(RBFOX3):c.688C>T (p.Arg230Trp)
|
rs1170085775
|
0.00001
|
NM_001355436.2(SPTB):c.2858C>G (p.Ala953Gly)
|
rs983201841
|
0.00001
|
NM_001355436.2(SPTB):c.3010G>A (p.Val1004Met)
|
rs779906104
|
0.00001
|
NM_001355436.2(SPTB):c.4273G>A (p.Glu1425Lys)
|
rs781231618
|
0.00001
|
NM_001355436.2(SPTB):c.5222C>T (p.Ala1741Val)
|
rs745940095
|
0.00001
|
NM_001355436.2(SPTB):c.5486G>A (p.Ser1829Asn)
|
rs766226678
|
0.00001
|
NM_001355436.2(SPTB):c.5863C>T (p.Arg1955Trp)
|
rs747917733
|
0.00001
|
NM_001360016.2(G6PD):c.337G>T (p.Asp113Tyr)
|
rs5030870
|
0.00001
|
NM_001360016.2(G6PD):c.889G>A (p.Glu297Lys)
|
rs781975796
|
0.00001
|
NM_001364905.1(LRBA):c.7865T>C (p.Val2622Ala)
|
rs541116943
|
0.00001
|
NM_001366122.1(KCP):c.4120A>T (p.Ile1374Phe)
|
rs1217738697
|
0.00001
|
NM_001368067.1(LDB3):c.418G>A (p.Val140Met)
|
rs745329859
|
0.00001
|
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val)
|
rs1352053477
|
0.00001
|
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His)
|
rs540122692
|
0.00001
|
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln)
|
rs751849531
|
0.00001
|
NM_001370466.1(NOD2):c.565+1G>A
|
rs766614906
|
0.00001
|
NM_001374353.1(GLI2):c.1157C>T (p.Pro386Leu)
|
rs757467621
|
0.00001
|
NM_001375808.2(LPIN2):c.766C>A (p.Leu256Ile)
|
rs765149855
|
0.00001
|
NM_001376571.1(MADD):c.4402C>T (p.Arg1468Cys)
|
rs141562374
|
0.00001
|
NM_001377.3(DYNC2H1):c.2996C>T (p.Thr999Ile)
|
rs753542063
|
0.00001
|
NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr)
|
rs1204094235
|
0.00001
|
NM_001377229.1(DISP1):c.1843A>G (p.Thr615Ala)
|
rs1231766318
|
0.00001
|
NM_001378457.1(DMXL2):c.2486G>A (p.Arg829Gln)
|
rs773900028
|
0.00001
|
NM_001379610.1(SPINK1):c.-40G>A
|
rs560283989
|
0.00001
|
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly)
|
rs375368064
|
0.00001
|
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu)
|
rs764538938
|
0.00001
|
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp)
|
rs201452322
|
0.00001
|
NM_001457.4(FLNB):c.2744A>G (p.Gln915Arg)
|
rs771989645
|
0.00001
|
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile)
|
rs754360853
|
0.00001
|
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile)
|
rs201831615
|
0.00001
|
NM_001498.4(GCLC):c.380G>A (p.Arg127His)
|
rs1442991694
|
0.00001
|
NM_001498.4(GCLC):c.500G>A (p.Gly167Glu)
|
rs1432552924
|
0.00001
|
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile)
|
rs1385044712
|
0.00001
|
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp)
|
rs1302363015
|
0.00001
|
NM_001770.6(CD19):c.962G>A (p.Arg321Lys)
|
rs1567506579
|
0.00001
|
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu)
|
rs904660062
|
0.00001
|
NM_001876.4(CPT1A):c.407T>C (p.Met136Thr)
|
rs1205599161
|
0.00001
|
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)
|
rs752432726
|
0.00001
|
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser)
|
rs769123461
|
0.00001
|
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg)
|
rs568474579
|
0.00001
|
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)
|
rs546172367
|
0.00001
|
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp)
|
rs1437992406
|
0.00001
|
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)
|
rs143054385
|
0.00001
|
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu)
|
rs755134019
|
0.00001
|
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)
|
rs863223546
|
0.00001
|
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu)
|
rs776761421
|
0.00001
|
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
|
rs768293070
|
0.00001
|
NM_002047.4(GARS1):c.2168A>G (p.Tyr723Cys)
|
rs559061999
|
0.00001
|
NM_002109.6(HARS1):c.907A>C (p.Lys303Gln)
|
rs774041144
|
0.00001
|
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys)
|
rs536556753
|
0.00001
|
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp)
|
rs761440964
|
0.00001
|
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu)
|
rs200079527
|
0.00001
|
NM_002246.3(KCNK3):c.952C>T (p.Arg318Cys)
|
rs780914900
|
0.00001
|
NM_002296.4(LBR):c.1130G>A (p.Arg377Gln)
|
rs750036742
|
0.00001
|
NM_002335.4(LRP5):c.2009C>T (p.Pro670Leu)
|
rs201207267
|
0.00001
|
NM_002439.5(MSH3):c.344T>C (p.Met115Thr)
|
rs1424813265
|
0.00001
|
NM_002471.4(MYH6):c.101G>A (p.Arg34His)
|
rs762303505
|
0.00001
|
NM_002471.4(MYH6):c.2087G>A (p.Arg696His)
|
rs757728653
|
0.00001
|
NM_002472.3(MYH8):c.1268T>G (p.Val423Gly)
|
rs747960533
|
0.00001
|
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu)
|
rs750288554
|
0.00001
|
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys)
|
rs371831822
|
0.00001
|
NM_002474.3(MYH11):c.534C>T (p.Gly178=)
|
rs764984716
|
0.00001
|
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)
|
rs759033733
|
0.00001
|
NM_002661.5(PLCG2):c.337+2T>C
|
rs866001196
|
0.00001
|
NM_002691.4(POLD1):c.1561C>T (p.Arg521Trp)
|
rs1341055535
|
0.00001
|
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)
|
rs144707871
|
0.00001
|
NM_002691.4(POLD1):c.917G>A (p.Arg306His)
|
rs781682472
|
0.00001
|
NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln)
|
rs727504827
|
0.00001
|
NM_002890.3(RASA1):c.203G>C (p.Gly68Ala)
|
rs771016186
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys)
|
rs199754684
|
0.00001
|
NM_003036.4(SKI):c.163G>C (p.Ala55Pro)
|
rs769506718
|
0.00001
|
NM_003072.5(SMARCA4):c.4171-1854T>C
|
rs1157173095
|
0.00001
|
NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu)
|
rs1216164802
|
0.00001
|
NM_003126.4(SPTA1):c.1471T>C (p.Trp491Arg)
|
rs1461673453
|
0.00001
|
NM_003126.4(SPTA1):c.2876G>A (p.Arg959Gln)
|
rs754523316
|
0.00001
|
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)
|
rs774722673
|
0.00001
|
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)
|
rs746827368
|
0.00001
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val)
|
rs866788278
|
0.00001
|
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys)
|
rs752691299
|
0.00001
|
NM_003242.6(TGFBR2):c.94+16293C>A
|
rs138262219
|
0.00001
|
NM_003696.3(OR6A2):c.199A>G (p.Met67Val)
|
rs754845071
|
0.00001
|
NM_003737.4(DCHS1):c.6403G>A (p.Glu2135Lys)
|
rs1166792634
|
0.00001
|
NM_003849.4(SUCLG1):c.827G>T (p.Gly276Val)
|
rs777671418
|
0.00001
|
NM_004006.3(DMD):c.1219A>G (p.Ile407Val)
|
rs1463021278
|
0.00001
|
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr)
|
rs398123940
|
0.00001
|
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp)
|
rs1462655612
|
0.00001
|
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu)
|
rs770845480
|
0.00001
|
NM_004086.3(COCH):c.177C>A (p.Phe59Leu)
|
rs772104254
|
0.00001
|
NM_004208.4(AIFM1):c.1151A>G (p.Lys384Arg)
|
rs1217648919
|
0.00001
|
NM_004239.4(TRIP11):c.111G>A (p.Met37Ile)
|
rs902936427
|
0.00001
|
NM_004239.4(TRIP11):c.1240G>T (p.Ala414Ser)
|
rs761670358
|
0.00001
|
NM_004239.4(TRIP11):c.332A>C (p.Lys111Thr)
|
rs770534000
|
0.00001
|
NM_004239.4(TRIP11):c.5645C>A (p.Ser1882Tyr)
|
rs371689436
|
0.00001
|
NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys)
|
rs771452619
|
0.00001
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu)
|
rs768870428
|
0.00001
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met)
|
rs1165200201
|
0.00001
|
NM_004444.5(EPHB4):c.1549C>A (p.Pro517Thr)
|
rs1457869824
|
0.00001
|
NM_004563.4(PCK2):c.260C>G (p.Pro87Arg)
|
rs1363281259
|
0.00001
|
NM_004655.4(AXIN2):c.1646A>G (p.Tyr549Cys)
|
rs1369622684
|
0.00001
|
NM_004863.4(SPTLC2):c.701C>T (p.Ala234Val)
|
rs761202531
|
0.00001
|
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr)
|
rs1051420158
|
0.00001
|
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr)
|
rs147034935
|
0.00001
|
NM_005188.4(CBL):c.1227+5G>A
|
rs756550704
|
0.00001
|
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)
|
rs147621330
|
0.00001
|
NM_005359.6(SMAD4):c.698A>G (p.His233Arg)
|
rs1555685910
|
0.00001
|
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)
|
rs1229812463
|
0.00001
|
NM_005359.6(SMAD4):c.956-4A>G
|
rs1295343500
|
0.00001
|
NM_005428.4(VAV1):c.472G>A (p.Asp158Asn)
|
rs765401527
|
0.00001
|
NM_005529.7(HSPG2):c.1355+5G>A
|
rs781394836
|
0.00001
|
NM_005529.7(HSPG2):c.1759C>T (p.Arg587Cys)
|
rs1386810012
|
0.00001
|
NM_005529.7(HSPG2):c.1868C>T (p.Ala623Val)
|
rs1433786790
|
0.00001
|
NM_005529.7(HSPG2):c.1988A>C (p.Gln663Pro)
|
rs1330866141
|
0.00001
|
NM_005529.7(HSPG2):c.2039C>T (p.Ala680Val)
|
rs374004974
|
0.00001
|
NM_005529.7(HSPG2):c.5348T>C (p.Val1783Ala)
|
rs1031570794
|
0.00001
|
NM_005529.7(HSPG2):c.6445G>A (p.Gly2149Ser)
|
rs561417019
|
0.00001
|
NM_005529.7(HSPG2):c.9893C>T (p.Pro3298Leu)
|
rs772760659
|
0.00001
|
NM_005548.3(KARS1):c.232A>G (p.Lys78Glu)
|
rs1298428928
|
0.00001
|
NM_005591.4(MRE11):c.895A>T (p.Ile299Phe)
|
rs587782169
|
0.00001
|
NM_005751.5(AKAP9):c.1859C>A (p.Ala620Asp)
|
rs774013935
|
0.00001
|
NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr)
|
rs746612786
|
0.00001
|
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)
|
rs121908566
|
0.00001
|
NM_005751.5(AKAP9):c.7555T>C (p.Tyr2519His)
|
rs752977579
|
0.00001
|
NM_005751.5(AKAP9):c.8585A>G (p.Gln2862Arg)
|
rs752618658
|
0.00001
|
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser)
|
rs727503750
|
0.00001
|
NM_006005.3(WFS1):c.601C>A (p.Leu201Met)
|
rs529580583
|
0.00001
|
NM_006231.4(POLE):c.6511A>G (p.Lys2171Glu)
|
rs760678210
|
0.00001
|
NM_006258.4(PRKG1):c.259G>A (p.Asp87Asn)
|
rs1282024063
|
0.00001
|
NM_006329.4(FBLN5):c.731A>G (p.His244Arg)
|
rs966392105
|
0.00001
|
NM_006363.6(SEC23B):c.1873C>A (p.Leu625Ile)
|
rs368458175
|
0.00001
|
NM_006363.6(SEC23B):c.2028C>A (p.Asp676Glu)
|
rs767325467
|
0.00001
|
NM_006790.3(MYOT):c.1242C>T (p.Asn414=)
|
rs1173495538
|
0.00001
|
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)
|
rs150868546
|
0.00001
|
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile)
|
rs397517221
|
0.00001
|
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly)
|
rs199801766
|
0.00001
|
NM_007078.3(LDB3):c.519C>G (p.Ser173Arg)
|
rs1845139039
|
0.00001
|
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr)
|
rs146414300
|
0.00001
|
NM_007078.3(LDB3):c.938C>T (p.Thr313Ile)
|
rs367882377
|
0.00001
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile)
|
rs772513025
|
0.00001
|
NM_007272.3(CTRC):c.606C>T (p.Cys202=)
|
rs543348635
|
0.00001
|
NM_007272.3(CTRC):c.719G>A (p.Arg240Gln)
|
rs760962602
|
0.00001
|
NM_007272.3(CTRC):c.752T>C (p.Val251Ala)
|
rs1175956798
|
0.00001
|
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal)
|
rs80358331
|
0.00001
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe)
|
rs769712441
|
0.00001
|
NM_007294.4(BRCA1):c.3965A>C (p.Lys1322Thr)
|
rs80357042
|
0.00001
|
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)
|
rs398122695
|
0.00001
|
NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly)
|
rs773841328
|
0.00001
|
NM_014000.3(VCL):c.550C>T (p.His184Tyr)
|
rs1321660809
|
0.00001
|
NM_014236.4(GNPAT):c.1687A>G (p.Asn563Asp)
|
rs200007027
|
0.00001
|
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val)
|
rs749606728
|
0.00001
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln)
|
rs1446967356
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_015915.5(ATL1):c.1247G>A (p.Arg416His)
|
rs1395551564
|
0.00001
|
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu)
|
rs750110066
|
0.00001
|
NM_016239.4(MYO15A):c.328C>T (p.Arg110Cys)
|
rs779554298
|
0.00001
|
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala)
|
rs76048775
|
0.00001
|
NM_017433.5(MYO3A):c.374C>T (p.Pro125Leu)
|
rs756557890
|
0.00001
|
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His)
|
rs768775024
|
0.00001
|
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro)
|
rs1085307869
|
0.00001
|
NM_017636.4(TRPM4):c.640C>T (p.Arg214Cys)
|
rs149860526
|
0.00001
|
NM_017636.4(TRPM4):c.689C>T (p.Ser230Leu)
|
rs558212476
|
0.00001
|
NM_018006.5(TRMU):c.814G>A (p.Gly272Ser)
|
rs1230867178
|
0.00001
|
NM_018100.4(EFHC1):c.754A>G (p.Thr252Ala)
|
rs1435544341
|
0.00001
|
NM_019077.3(UGT1A7):c.565T>C (p.Tyr189His)
|
rs773379672
|
0.00001
|
NM_020779.4(WDR35):c.1854T>G (p.Ile618Met)
|
rs767714993
|
0.00001
|
NM_020779.4(WDR35):c.529A>G (p.Asn177Asp)
|
rs747028453
|
0.00001
|
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
|
rs771889785
|
0.00001
|
NM_021074.5(NDUFV2):c.116T>G (p.Phe39Cys)
|
rs756896914
|
0.00001
|
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg)
|
rs867556563
|
0.00001
|
NM_021098.3(CACNA1H):c.4760-5T>A
|
rs1474686670
|
0.00001
|
NM_021625.5(TRPV4):c.-16C>T
|
rs762801533
|
0.00001
|
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)
|
rs368963822
|
0.00001
|
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)
|
rs751647405
|
0.00001
|
NM_021625.5(TRPV4):c.914C>T (p.Thr305Met)
|
rs754582307
|
0.00001
|
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly)
|
rs750242187
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_021939.4(FKBP10):c.1640T>C (p.Ile547Thr)
|
rs368139860
|
0.00001
|
NM_021939.4(FKBP10):c.311G>A (p.Arg104Gln)
|
rs142507953
|
0.00001
|
NM_021939.4(FKBP10):c.505C>T (p.Arg169Cys)
|
rs782676847
|
0.00001
|
NM_022114.4(PRDM16):c.109G>A (p.Glu37Lys)
|
rs369539275
|
0.00001
|
NM_022114.4(PRDM16):c.2428C>T (p.Arg810Trp)
|
rs776055411
|
0.00001
|
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr)
|
rs397517320
|
0.00001
|
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser)
|
rs545514111
|
0.00001
|
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe)
|
rs1344810292
|
0.00001
|
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn)
|
rs370719592
|
0.00001
|
NM_022489.4(INF2):c.368G>A (p.Gly123Asp)
|
rs994483790
|
0.00001
|
NM_023110.3(FGFR1):c.443G>A (p.Arg148His)
|
rs515726222
|
0.00001
|
NM_024009.3(GJB3):c.718C>T (p.Arg240Cys)
|
rs753842104
|
0.00001
|
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln)
|
rs749140979
|
0.00001
|
NM_024426.6(WT1):c.26C>T (p.Pro9Leu)
|
rs948132360
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024753.5(TTC21B):c.3581A>G (p.Glu1194Gly)
|
rs764848148
|
0.00001
|
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr)
|
rs138058648
|
0.00001
|
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr)
|
rs565630355
|
0.00001
|
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)
|
rs370948119
|
0.00001
|
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His)
|
rs1187864679
|
0.00001
|
NM_030929.5(KAZALD1):c.671A>G (p.Gln224Arg)
|
rs1348017309
|
0.00001
|
NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu)
|
rs189911105
|
0.00001
|
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)
|
rs587782029
|
0.00001
|
NM_032119.4(ADGRV1):c.10882C>T (p.Pro3628Ser)
|
rs564470089
|
0.00001
|
NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg)
|
rs1158908533
|
0.00001
|
NM_032119.4(ADGRV1):c.5707T>A (p.Trp1903Arg)
|
rs1554081484
|
0.00001
|
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)
|
rs397517434
|
0.00001
|
NM_053025.4(MYLK):c.243G>A (p.Leu81=)
|
rs1033918125
|
0.00001
|
NM_053025.4(MYLK):c.3085G>A (p.Ala1029Thr)
|
rs1302330903
|
0.00001
|
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr)
|
rs747543921
|
0.00001
|
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly)
|
rs771619672
|
0.00001
|
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)
|
rs138667578
|
0.00001
|
NM_130837.3(OPA1):c.1744A>C (p.Lys582Gln)
|
rs766935532
|
0.00001
|
NM_133379.5(TTN):c.12121G>A (p.Val4041Ile)
|
rs761151353
|
0.00001
|
NM_133379.5(TTN):c.15484T>C (p.Trp5162Arg)
|
rs921768334
|
0.00001
|
NM_138382.3(RIPPLY1):c.256G>A (p.Glu86Lys)
|
rs1383048808
|
0.00001
|
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln)
|
rs962870388
|
0.00001
|
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)
|
rs767740199
|
0.00001
|
NM_145015.5(MRGPRF):c.896C>T (p.Ser299Leu)
|
rs1296210806
|
0.00001
|
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn)
|
rs757316188
|
0.00001
|
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
|
rs773470850
|
0.00001
|
NM_147127.5(EVC2):c.3570C>G (p.Ser1190Arg)
|
rs763892029
|
0.00001
|
NM_152772.3(TCP11L2):c.253G>A (p.Glu85Lys)
|
rs765611865
|
0.00001
|
NM_153339.3(PUSL1):c.693T>G (p.Tyr231Ter)
|
rs563462883
|
0.00001
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_177438.3(DICER1):c.4412C>T (p.Pro1471Leu)
|
rs1060503657
|
0.00001
|
NM_177438.3(DICER1):c.5762A>G (p.Asn1921Ser)
|
rs764747360
|
0.00001
|
NM_181882.3(PRX):c.994A>G (p.Thr332Ala)
|
rs143710873
|
0.00001
|
NM_182925.5(FLT4):c.2002A>G (p.Lys668Glu)
|
rs1397184267
|
0.00001
|
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg)
|
rs928178334
|
0.00001
|
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala)
|
rs1230178894
|
0.00001
|
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg)
|
rs765542241
|
0.00001
|
NM_198999.3(SLC26A5):c.1658G>A (p.Ser553Asn)
|
rs193110872
|
0.00001
|
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile)
|
rs751834009
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile)
|
rs373984123
|
0.00001
|
NM_213595.4(ISCU):c.115-152T>C
|
rs781448429
|
0.00001
|
NM_213655.5(WNK1):c.3575C>T (p.Thr1192Ile)
|
rs1217942716
|
0.00001
|
NR_001566.1(TERC):n.165G>A
|
rs367842608
|
0.00001
|
NC_000011.10:g.5227205C>G
|
rs559819102
|
|
NC_012920.1(MT-CYB):m.1282G>A
|
rs1569483805
|
|
NC_012920.1(MT-CYB):m.14701C>T
|
rs1569484669
|
|
NC_012920.1(MT-CYB):m.14969T>C
|
rs1569484685
|
|
NC_012920.1(MT-CYB):m.15467A>G
|
rs1569484723
|
|
NC_012920.1(MT-CYB):m.1619C>T
|
rs1569483811
|
|
NC_012920.1(MT-ND4):m.10931T>C
|
rs1569484408
|
|
NC_012920.1(MT-ND4L):m.10644G>A
|
rs1569484385
|
|
NC_012920.1(MT-ND5):m.13528A>G
|
rs55882959
|
|
NC_012920.1(MT-ND6):m.14633A>G
|
rs1569484667
|
|
NC_012920.1:m.11016G>C
|
rs28594904
|
|
NC_012920.1:m.12177A>G
|
rs1569484492
|
|
NC_012920.1:m.12889G>A
|
rs1556424185
|
|
NC_012920.1:m.3991A>G
|
rs1569483910
|
|
NC_012920.1:m.4305A>G
|
rs1569483932
|
|
NC_012920.1:m.4597T>C
|
rs1569483945
|
|
NC_012920.1:m.6054G>A
|
rs1569484049
|
|
NC_012920.1:m.8156G>C
|
rs1569484189
|
|
NC_012920.1:m.8202T>C
|
rs1569484193
|
|
NC_012920.1:m.8553C>T
|
rs1569484219
|
|
NC_012920.1:m.8669G>C
|
rs1569484228
|
|
NC_012920.1:m.8686T>A
|
rs1569484231
|
|
NC_012920.1:m.8800T>C
|
rs1569484239
|
|
NC_012920.1:m.9318C>T
|
rs1569484294
|
|
NC_012920.1:m.9714G>A
|
rs1556423712
|
|
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu)
|
rs1024056446
|
|
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile)
|
rs796051911
|
|
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys)
|
rs1567567312
|
|
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)
|
rs999226548
|
|
NM_000019.4(ACAT1):c.182TGC[1] (p.Leu62del)
|
rs1565288438
|
|
NM_000020.3(ACVRL1):c.1276T>A (p.Tyr426Asn)
|
rs1565596460
|
|
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000022.4(ADA):c.367G>A (p.Asp123Asn)
|
rs1458135388
|
|
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)
|
rs769778891
|
|
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
|
rs1569540700
|
|
NM_000033.4(ABCD1):c.900+7C>T
|
rs2091712393
|
|
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)
|
rs183864227
|
|
NM_000038.6(APC):c.2408C>G (p.Thr803Ser)
|
rs587780591
|
|
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr)
|
rs758715972
|
|
NM_000038.6(APC):c.8465G>C (p.Ser2822Thr)
|
rs1421264825
|
|
NM_000038.6(APC):c.8466C>A (p.Ser2822Arg)
|
rs1561623566
|
|
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys)
|
rs79220522
|
|
NM_000051.4(ATM):c.380C>T (p.Thr127Ile)
|
rs2079238567
|
|
NM_000051.4(ATM):c.502T>C (p.Phe168Leu)
|
rs1565369177
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)
|
rs375071383
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2708T>G (p.Val903Gly)
|
rs1566500467
|
|
NM_000059.4(BRCA2):c.10061C>T (p.Ser3354Phe)
|
|
|
NM_000059.4(BRCA2):c.10156_10158del (p.Cys3386del)
|
|
|
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs)
|
rs80359258
|
|
NM_000059.4(BRCA2):c.1885C>G (p.Leu629Val)
|
rs398122734
|
|
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg)
|
rs878853558
|
|
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His)
|
rs80358486
|
|
NM_000059.4(BRCA2):c.2104A>G (p.Ile702Val)
|
rs774968533
|
|
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.227C>T (p.Ser76Leu)
|
rs80358498
|
|
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro)
|
rs730881516
|
|
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)
|
rs398122759
|
|
NM_000059.4(BRCA2):c.3367A>G (p.Ser1123Gly)
|
rs80358581
|
|
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg)
|
rs80358594
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
NM_000059.4(BRCA2):c.3710C>T (p.Ala1237Val)
|
|
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
rs398122773
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)
|
rs80358655
|
|
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val)
|
rs1409088355
|
|
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)
|
rs587782185
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
NM_000059.4(BRCA2):c.48_50delinsAAT (p.Thr17Ile)
|
|
|
NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile)
|
rs386833396
|
|
NM_000059.4(BRCA2):c.5108A>T (p.Glu1703Val)
|
rs746177907
|
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
rs587782007
|
|
NM_000059.4(BRCA2):c.5537T>C (p.Ile1846Thr)
|
rs763330257
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
NM_000059.4(BRCA2):c.6255A>T (p.Leu2085Phe)
|
rs730881579
|
|
NM_000059.4(BRCA2):c.6277C>T (p.His2093Tyr)
|
rs1593908107
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe)
|
rs80358880
|
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
rs28897742
|
|
NM_000059.4(BRCA2):c.6936T>A (p.Asp2312Glu)
|
rs80358917
|
|
NM_000059.4(BRCA2):c.7039C>G (p.Pro2347Ala)
|
rs876660668
|
|
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro)
|
rs80358930
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.7715G>A (p.Ser2572Asn)
|
rs2072709892
|
|
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro)
|
rs431825357
|
|
NM_000059.4(BRCA2):c.8189C>T (p.Ala2730Val)
|
rs80359067
|
|
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)
|
rs80359138
|
|
NM_000059.4(BRCA2):c.8835G>C (p.Gln2945His)
|
rs1566252630
|
|
NM_000059.4(BRCA2):c.8944_8946del (p.Lys2982del)
|
rs80359733
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly)
|
rs1060502443
|
|
NM_000059.4(BRCA2):c.941A>T (p.Lys314Ile)
|
|
|
NM_000059.4(BRCA2):c.9562G>A (p.Asp3188Asn)
|
rs80359226
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9719T>G (p.Val3240Gly)
|
rs1566260882
|
|
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)
|
rs128621203
|
|
NM_000061.3(BTK):c.337G>A (p.Val113Ile)
|
rs2147443453
|
|
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)
|
rs1295461215
|
|
NM_000071.3(CBS):c.450C>T (p.Thr150=)
|
rs750030593
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala)
|
rs1907454557
|
|
NM_000088.4(COL1A1):c.1767+4A>G
|
rs2144569023
|
|
NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg)
|
|
|
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu)
|
rs926503489
|
|
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
|
|
|
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)
|
rs982770651
|
|
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
|
|
|
NM_000089.4(COL1A2):c.2320G>T (p.Ala774Ser)
|
rs1584326654
|
|
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
|
|
|
NM_000089.4(COL1A2):c.3267+4A>G
|
rs2115958188
|
|
NM_000089.4(COL1A2):c.3638C>A (p.Ala1213Asp)
|
|
|
NM_000089.4(COL1A2):c.3785A>G (p.Asn1262Ser)
|
rs1562908780
|
|
NM_000089.4(COL1A2):c.602C>T (p.Pro201Leu)
|
|
|
NM_000090.4(COL3A1):c.111G>C (p.Gln37His)
|
rs2153501346
|
|
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys)
|
rs199564715
|
|
NM_000090.4(COL3A1):c.2713C>T (p.Pro905Ser)
|
rs112640146
|
|
NM_000090.4(COL3A1):c.3124G>A (p.Ala1042Thr)
|
rs2153503724
|
|
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr)
|
rs750849196
|
|
NM_000090.4(COL3A1):c.636+5_636+8del
|
rs1688112903
|
|
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=)
|
rs781663334
|
|
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser)
|
rs1838678972
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000095.3(COMP):c.1247C>T (p.Pro416Leu)
|
rs764546396
|
|
NM_000095.3(COMP):c.1737C>T (p.Gly579=)
|
rs1568554284
|
|
NM_000112.4(SLC26A2):c.924C>G (p.Ser308Arg)
|
rs767409327
|
|
NM_000117.3(EMD):c.128C>G (p.Thr43Ser)
|
rs1569552081
|
|
NM_000128.4(F11):c.448A>G (p.Thr150Ala)
|
rs1740201176
|
|
NM_000132.4(F8):c.1301G>T (p.Gly434Val)
|
rs1569559866
|
|
NM_000132.4(F8):c.1457A>T (p.Asn486Ile)
|
|
|
NM_000132.4(F8):c.2092T>G (p.Phe698Val)
|
|
|
NM_000132.4(F8):c.244A>G (p.Lys82Glu)
|
rs1283070296
|
|
NM_000132.4(F8):c.359T>C (p.Val120Ala)
|
rs1569560006
|
|
NM_000132.4(F8):c.37C>T (p.Leu13Phe)
|
|
|
NM_000132.4(F8):c.4163C>T (p.Pro1388Leu)
|
|
|
NM_000132.4(F8):c.521C>T (p.Thr174Ile)
|
|
|
NM_000132.4(F8):c.6066C>T (p.Gly2022=)
|
|
|
NM_000132.4(F8):c.6245G>A (p.Ser2082Asn)
|
rs1569559494
|
|
NM_000132.4(F8):c.6653T>A (p.Met2218Lys)
|
|
|
NM_000133.4(F9):c.1196T>C (p.Phe399Ser)
|
rs2148368081
|
|
NM_000133.4(F9):c.196G>A (p.Glu66Lys)
|
rs1569481975
|
|
NM_000133.4(F9):c.517G>A (p.Ala173Thr)
|
rs865782271
|
|
NM_000133.4(F9):c.87A>G (p.Thr29=)
|
rs2148353000
|
|
NM_000133.4(F9):c.934T>G (p.Tyr312Asp)
|
rs1569332828
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe)
|
|
|
NM_000138.5(FBN1):c.2360G>T (p.Ser787Ile)
|
|
|
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)
|
rs1060501091
|
|
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)
|
rs1555398992
|
|
NM_000138.5(FBN1):c.3467T>G (p.Ile1156Ser)
|
rs2043515378
|
|
NM_000138.5(FBN1):c.3589+6T>C
|
rs766478869
|
|
NM_000138.5(FBN1):c.4583-9G>A
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val)
|
rs2043337939
|
|
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly)
|
rs2141256116
|
|
NM_000138.5(FBN1):c.5729G>A (p.Gly1910Asp)
|
rs1566898786
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
|
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.695G>C (p.Arg232Pro)
|
|
|
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)
|
rs112369155
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7759G>A (p.Gly2587Ser)
|
rs2042934369
|
|
NM_000138.5(FBN1):c.8055C>G (p.His2685Gln)
|
rs1309361114
|
|
NM_000138.5(FBN1):c.8120A>G (p.Asp2707Gly)
|
rs1566889150
|
|
NM_000138.5(FBN1):c.8408T>C (p.Phe2803Ser)
|
rs2141209869
|
|
NM_000138.5(FBN1):c.988+3A>G
|
|
|
NM_000141.5(FGFR2):c.1349G>A (p.Arg450His)
|
|
|
NM_000142.5(FGFR3):c.955_957del (p.Lys319del)
|
|
|
NM_000144.5(FXN):c.34C>G (p.Leu12Val)
|
rs1168839252
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
NM_000157.4(GBA1):c.350T>C (p.Val117Ala)
|
|
|
NM_000157.4(GBA1):c.355G>C (p.Gly119Arg)
|
rs1553218180
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
|
|
|
NM_000162.5(GCK):c.431T>C (p.Leu144Pro)
|
rs1554335596
|
|
NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro)
|
|
|
NM_000178.4(GSS):c.1073C>G (p.Pro358Arg)
|
rs752295865
|
|
NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg)
|
rs756043669
|
|
NM_000179.3(MSH6):c.2383A>G (p.Ile795Val)
|
rs865931684
|
|
NM_000179.3(MSH6):c.3438+5C>G
|
rs777420424
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys)
|
rs763353852
|
|
NM_000184.3(HBG2):c.358G>C (p.Gly120Arg)
|
rs765691029
|
|
NM_000184.3(HBG2):c.397A>C (p.Lys133Gln)
|
rs2133612273
|
|
NM_000188.3(HK1):c.1690A>G (p.Ile564Val)
|
|
|
NM_000188.3(HK1):c.2314A>T (p.Ile772Phe)
|
rs1840074295
|
|
NM_000188.3(HK1):c.2662G>A (p.Val888Met)
|
rs1564575554
|
|
NM_000188.3(HK1):c.589G>C (p.Gly197Arg)
|
|
|
NM_000188.3(HK1):c.86T>C (p.Met29Thr)
|
rs1014528063
|
|
NM_000208.4(INSR):c.3470A>G (p.His1157Arg)
|
rs957304581
|
|
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg)
|
rs1554892900
|
|
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu)
|
rs79654911
|
|
NM_000238.4(KCNH2):c.1756C>G (p.Leu586Val)
|
rs1801169246
|
|
NM_000238.4(KCNH2):c.2033T>G (p.Leu678Arg)
|
rs199472981
|
|
NM_000243.3(MEFV):c.1089C>A (p.Ser363Arg)
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1519G>A (p.Ala507Thr)
|
|
|
NM_000243.3(MEFV):c.1531G>A (p.Ala511Thr)
|
|
|
NM_000243.3(MEFV):c.1588-3T>A
|
|
|
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp)
|
rs200766991
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.590G>A (p.Gly197Asp)
|
|
|
NM_000243.3(MEFV):c.74A>C (p.Lys25Thr)
|
|
|
NM_000243.3(MEFV):c.928G>A (p.Ala310Thr)
|
|
|
NM_000249.4(MLH1):c.1309C>G (p.Pro437Ala)
|
rs587782273
|
|
NM_000249.4(MLH1):c.652T>A (p.Ser218Thr)
|
|
|
NM_000249.4(MLH1):c.726G>A (p.Met242Ile)
|
rs1559534445
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
NM_000251.3(MSH2):c.2128G>T (p.Ala710Ser)
|
rs1558519878
|
|
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)
|
rs587781996
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)
|
rs63750797
|
|
NM_000251.3(MSH2):c.2782T>C (p.Ser928Pro)
|
rs587781852
|
|
NM_000251.3(MSH2):c.476G>A (p.Arg159Lys)
|
rs786202921
|
|
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)
|
rs587781724
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
NM_000251.3(MSH2):c.785A>T (p.Glu262Val)
|
rs1558462101
|
|
NM_000251.3(MSH2):c.923G>C (p.Arg308Thr)
|
rs1553352545
|
|
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly)
|
rs786204185
|
|
NM_000255.4(MMUT):c.446A>T (p.Asp149Val)
|
rs1194327802
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
NM_000257.4(MYH7):c.2286+1G>T
|
rs1064796489
|
|
NM_000263.4(NAGLU):c.2132G>A (p.Ser711Asn)
|
rs2092930722
|
|
NM_000283.4(PDE6B):c.1507G>C (p.Glu503Gln)
|
rs758303497
|
|
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)
|
rs560350898
|
|
NM_000297.4(PKD2):c.1796G>A (p.Gly599Asp)
|
rs1560620374
|
|
NM_000298.6(PKLR):c.1049T>C (p.Phe350Ser)
|
rs755934816
|
|
NM_000298.6(PKLR):c.1116G>A (p.Gln372=)
|
rs2148203939
|
|
NM_000298.6(PKLR):c.119G>A (p.Arg40Gln)
|
|
|
NM_000298.6(PKLR):c.1270-11G>A
|
rs1647339680
|
|
NM_000298.6(PKLR):c.1270-15T>G
|
rs778487109
|
|
NM_000298.6(PKLR):c.1272T>G (p.Ile424Met)
|
rs1647338688
|
|
NM_000298.6(PKLR):c.1345C>T (p.Arg449Cys)
|
|
|
NM_000298.6(PKLR):c.1378G>A (p.Val460Met)
|
rs752034960
|
|
NM_000298.6(PKLR):c.1388C>T (p.Ala463Val)
|
rs1647321523
|
|
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala)
|
rs1674489086
|
|
NM_000298.6(PKLR):c.20T>C (p.Ile7Thr)
|
|
|
NM_000298.6(PKLR):c.247G>A (p.Val83Met)
|
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
NM_000298.6(PKLR):c.694+41G>T
|
|
|
NM_000298.6(PKLR):c.762G>C (p.Leu254Phe)
|
rs943436402
|
|
NM_000314.8(PTEN):c.-531_-486del
|
rs1564800757
|
|
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)
|
rs1554897856
|
|
NM_000314.8(PTEN):c.538T>C (p.Tyr180His)
|
rs746280047
|
|
NM_000314.8(PTEN):c.587A>G (p.His196Arg)
|
rs1564837944
|
|
NM_000334.4(SCN4A):c.5171G>A (p.Arg1724Lys)
|
rs539487509
|
|
NM_000335.5(SCN5A):c.3634T>G (p.Phe1212Val)
|
rs2061468266
|
|
NM_000335.5(SCN5A):c.5589G>T (p.Glu1863Asp)
|
rs794728899
|
|
NM_000335.5(SCN5A):c.5654A>C (p.Lys1885Thr)
|
rs2125825142
|
|
NM_000335.5(SCN5A):c.5742C>A (p.His1914Gln)
|
rs1314879329
|
|
NM_000335.5(SCN5A):c.869C>A (p.Thr290Asn)
|
rs1559778505
|
|
NM_000337.6(SGCD):c.712G>A (p.Ala238Thr)
|
rs1757448747
|
|
NM_000342.4(SLC4A1):c.1042C>G (p.Gln348Glu)
|
|
|
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)
|
rs2047407019
|
|
NM_000342.4(SLC4A1):c.1250T>C (p.Leu417Pro)
|
rs2047405727
|
|
NM_000342.4(SLC4A1):c.1361T>G (p.Leu454Arg)
|
rs2144613156
|
|
NM_000342.4(SLC4A1):c.1403T>G (p.Leu468Arg)
|
rs2144613014
|
|
NM_000342.4(SLC4A1):c.1431G>A (p.Ser477=)
|
rs1176855098
|
|
NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)
|
|
|
NM_000342.4(SLC4A1):c.1889A>C (p.Gln630Pro)
|
|
|
NM_000342.4(SLC4A1):c.1890G>T (p.Gln630His)
|
rs2047378030
|
|
NM_000342.4(SLC4A1):c.2009C>G (p.Pro670Arg)
|
|
|
NM_000342.4(SLC4A1):c.2111T>C (p.Leu704Pro)
|
rs2047359576
|
|
NM_000342.4(SLC4A1):c.2508C>A (p.Phe836Leu)
|
rs2144596543
|
|
NM_000342.4(SLC4A1):c.2570T>C (p.Leu857Pro)
|
|
|
NM_000342.4(SLC4A1):c.655A>G (p.Lys219Glu)
|
|
|
NM_000342.4(SLC4A1):c.698G>A (p.Arg233His)
|
rs369164512
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
NM_000342.4(SLC4A1):c.890A>G (p.Asp297Gly)
|
rs2047412306
|
|
NM_000346.4(SOX9):c.1287C>A (p.Ser429Arg)
|
rs758181921
|
|
NM_000350.3(ABCA4):c.2863G>A (p.Glu955Lys)
|
rs765680067
|
|
NM_000350.3(ABCA4):c.511A>T (p.Ile171Phe)
|
rs765059735
|
|
NM_000350.3(ABCA4):c.6426C>G (p.Ile2142Met)
|
rs1184801813
|
|
NM_000355.4(TCN2):c.407A>G (p.Glu136Gly)
|
rs1479587262
|
|
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)
|
rs940292214
|
|
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
NM_000371.4(TTR):c.211G>A (p.Glu71Lys)
|
rs933476040
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
|
|
|
NM_000371.4(TTR):c.50T>C (p.Val17Ala)
|
rs1237121765
|
|
NM_000371.4(TTR):c.85A>T (p.Lys29Ter)
|
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000384.3(APOB):c.10676T>C (p.Ile3559Thr)
|
|
|
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
|
|
|
NM_000384.3(APOB):c.11417C>T (p.Ser3806Phe)
|
|
|
NM_000384.3(APOB):c.11822T>C (p.Leu3941Ser)
|
|
|
NM_000384.3(APOB):c.12342G>T (p.Trp4114Cys)
|
rs1045593499
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
NM_000384.3(APOB):c.13268C>G (p.Ser4423Cys)
|
|
|
NM_000384.3(APOB):c.3190G>T (p.Val1064Phe)
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.877A>G (p.Lys293Glu)
|
rs2103381922
|
|
NM_000384.3(APOB):c.8783C>T (p.Ser2928Leu)
|
rs2103353879
|
|
NM_000398.7(CYB5R3):c.145G>C (p.Asp49His)
|
rs144467449
|
|
NM_000398.7(CYB5R3):c.176G>A (p.Arg59His)
|
|
|
NM_000398.7(CYB5R3):c.334-15G>A
|
|
|
NM_000398.7(CYB5R3):c.548-13G>A
|
rs573516374
|
|
NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys)
|
|
|
NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del)
|
rs2146859537
|
|
NM_000399.5(EGR2):c.1303G>C (p.Val435Leu)
|
rs750183887
|
|
NM_000399.5(EGR2):c.166G>A (p.Gly56Arg)
|
rs377204675
|
|
NM_000399.5(EGR2):c.854C>G (p.Ala285Gly)
|
rs1181205792
|
|
NM_000413.4(HSD17B1):c.875CCGAGGCTGGGG[1] (p.292AEAG[1])
|
|
|
NM_000429.3(MAT1A):c.550-18C>G
|
rs765732735
|
|
NM_000431.4(MVK):c.119G>A (p.Arg40Gln)
|
rs373095009
|
|
NM_000431.4(MVK):c.413C>T (p.Pro138Leu)
|
rs1885211566
|
|
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys)
|
rs2046899820
|
|
NM_000435.3(NOTCH3):c.2981del (p.Gly994fs)
|
|
|
NM_000435.3(NOTCH3):c.4475A>C (p.Glu1492Ala)
|
rs2046768843
|
|
NM_000435.3(NOTCH3):c.5297T>C (p.Met1766Thr)
|
rs1420105350
|
|
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
|
|
|
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile)
|
rs373866355
|
|
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
|
|
|
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly)
|
rs749189648
|
|
NM_000440.3(PDE6A):c.1057A>G (p.Asn353Asp)
|
rs1561751067
|
|
NM_000451.4(SHOX):c.627C>G (p.Phe209Leu)
|
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly)
|
|
|
NM_000463.3(UGT1A1):c.131T>A (p.Leu44His)
|
rs1178608845
|
|
NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val)
|
|
|
NM_000463.3(UGT1A1):c.1525TGT[1] (p.Cys510del)
|
rs771159962
|
|
NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)
|
|
|
NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln)
|
|
|
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)
|
rs200903749
|
|
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)
|
rs1644512630
|
|
NM_000478.6(ALPL):c.469G>A (p.Ala157Thr)
|
rs750842585
|
|
NM_000489.6(ATRX):c.6271A>G (p.Thr2091Ala)
|
rs1569525091
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1070C>T (p.Ala357Val)
|
|
|
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg)
|
rs1799033866
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
NM_000492.4(CFTR):c.1349G>T (p.Arg450Ile)
|
|
|
NM_000492.4(CFTR):c.1522T>C (p.Phe508Leu)
|
rs753920616
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly)
|
rs1792007322
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1913C>T (p.Pro638Leu)
|
rs1562907846
|
|
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)
|
rs377731410
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala)
|
rs1031657153
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
NM_000492.4(CFTR):c.3423T>G (p.Ser1141Arg)
|
rs748284173
|
|
NM_000492.4(CFTR):c.3468+33A>G
|
rs1792459342
|
|
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile)
|
rs1359962349
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
|
|
|
NM_000492.4(CFTR):c.388C>G (p.Leu130Val)
|
rs397508632
|
|
NM_000492.4(CFTR):c.4025G>A (p.Gly1342Glu)
|
|
|
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn)
|
rs763602969
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=)
|
rs1322987429
|
|
NM_000492.4(CFTR):c.4243-16A>G
|
rs780125251
|
|
NM_000492.4(CFTR):c.4243-7del
|
rs878854021
|
|
NM_000492.4(CFTR):c.4324A>G (p.Ser1442Gly)
|
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr)
|
rs1798913314
|
|
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe)
|
rs775713428
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe)
|
rs56093012
|
|
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu)
|
rs397508822
|
|
NM_000517.6(HBA2):c.169A>G (p.Lys57Glu)
|
rs281864842
|
|
NM_000517.6(HBA2):c.263A>C (p.His88Pro)
|
|
|
NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)
|
rs41338947
|
|
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys)
|
rs111033604
|
|
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)
|
rs63750010
|
|
NM_000517.6(HBA2):c.369C>G (p.His123Gln)
|
rs41479347
|
|
NM_000517.6(HBA2):c.420del (p.Lys140fs)
|
rs63750520
|
|
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys)
|
rs281864819
|
|
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)
|
rs281864823
|
|
NM_000518.4(HBB):c.184A>G (p.Lys62Glu)
|
rs33995148
|
|
NM_000518.4(HBB):c.194G>C (p.Gly65Ala)
|
rs33922018
|
|
NM_000518.4(HBB):c.232C>T (p.His78Tyr)
|
rs33991294
|
|
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)
|
rs33913712
|
|
NM_000518.4(HBB):c.275T>G (p.Leu92Arg)
|
rs33917785
|
|
NM_000518.4(HBB):c.302C>G (p.Pro101Arg)
|
rs33965000
|
|
NM_000518.4(HBB):c.67G>A (p.Glu23Lys)
|
rs33959855
|
|
NM_000518.5(HBB):c.-82C>T
|
rs34500389
|
|
NM_000518.5(HBB):c.118C>A (p.Gln40Lys)
|
rs11549407
|
|
NM_000518.5(HBB):c.134C>G (p.Ser45Cys)
|
rs34868397
|
|
NM_000518.5(HBB):c.144T>A (p.Asp48Glu)
|
rs754454495
|
|
NM_000518.5(HBB):c.158A>T (p.Asp53Val)
|
rs33919924
|
|
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)
|
rs33912272
|
|
NM_000518.5(HBB):c.174C>A (p.Asn58Lys)
|
rs35278874
|
|
NM_000518.5(HBB):c.179A>C (p.Lys60Thr)
|
rs35537181
|
|
NM_000518.5(HBB):c.220G>C (p.Asp74His)
|
rs33945705
|
|
NM_000518.5(HBB):c.308A>T (p.Asn103Ile)
|
|
|
NM_000518.5(HBB):c.315+73A>G
|
rs1847548056
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
NM_000518.5(HBB):c.380T>A (p.Val127Glu)
|
rs33925391
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg)
|
rs939203533
|
|
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)
|
rs1297800753
|
|
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg)
|
rs1555802275
|
|
NM_000527.5(LDLR):c.1221C>A (p.His407Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000531.5(OTC):c.-106C>A
|
rs749748052
|
|
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
NM_000531.6(OTC):c.433C>A (p.Gln145Lys)
|
rs753584565
|
|
NM_000535.7(PMS2):c.2144A>C (p.His715Pro)
|
rs773913260
|
|
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile)
|
rs1064794097
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg)
|
rs1277038817
|
|
NM_000540.3(RYR1):c.4582T>C (p.Phe1528Leu)
|
rs1568476341
|
|
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)
|
rs914804033
|
|
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu)
|
rs193922833
|
|
NM_000545.8(HNF1A):c.311_316dup (p.Glu105_Thr106insMetGlu)
|
|
|
NM_000546.6(TP53):c.478A>G (p.Met160Val)
|
rs377274728
|
|
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)
|
rs2084685904
|
|
NM_000548.5(TSC2):c.1787T>C (p.Leu596Pro)
|
rs45517200
|
|
NM_000548.5(TSC2):c.2106_2108dup (p.Asp702_Trp703insCys)
|
|
|
NM_000548.5(TSC2):c.2405G>C (p.Ser802Thr)
|
rs1015629239
|
|
NM_000548.5(TSC2):c.2558T>C (p.Leu853Pro)
|
|
|
NM_000548.5(TSC2):c.3400G>A (p.Gly1134Ser)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.4006-3_4006-2insG
|
|
|
NM_000548.5(TSC2):c.4787G>A (p.Gly1596Asp)
|
rs397515014
|
|
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)
|
rs730882038
|
|
NM_000552.5(VWF):c.1048T>C (p.Cys350Arg)
|
|
|
NM_000552.5(VWF):c.2839A>G (p.Met947Val)
|
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
NM_000552.5(VWF):c.3103A>G (p.Arg1035Gly)
|
|
|
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro)
|
rs61749378
|
|
NM_000552.5(VWF):c.4037A>G (p.Gln1346Arg)
|
|
|
NM_000552.5(VWF):c.4133C>T (p.Ser1378Phe)
|
rs61750073
|
|
NM_000552.5(VWF):c.4151T>C (p.Leu1384Pro)
|
rs2136412999
|
|
NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln)
|
rs61750079
|
|
NM_000552.5(VWF):c.4381G>A (p.Ala1461Thr)
|
rs1944097477
|
|
NM_000552.5(VWF):c.4493A>G (p.Asp1498Gly)
|
rs1565831748
|
|
NM_000552.5(VWF):c.4549A>C (p.Ser1517Arg)
|
rs2136412356
|
|
NM_000552.5(VWF):c.4735G>A (p.Gly1579Arg)
|
rs61750113
|
|
NM_000552.5(VWF):c.5009G>C (p.Cys1670Ser)
|
|
|
NM_000552.5(VWF):c.512A>T (p.Asp171Val)
|
|
|
NM_000552.5(VWF):c.5177G>A (p.Arg1726His)
|
rs147313320
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg)
|
rs267607372
|
|
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)
|
rs760180391
|
|
NM_000557.5(GDF5):c.262C>G (p.Gln88Glu)
|
rs2062479573
|
|
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn)
|
rs34269448
|
|
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)
|
rs33986902
|
|
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg)
|
rs35203445
|
|
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)
|
rs1318437795
|
|
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)
|
rs34090856
|
|
NM_000558.5(HBA1):c.186G>T (p.Lys62Asn)
|
rs281864775
|
|
NM_000558.5(HBA1):c.19G>C (p.Asp7His)
|
rs33961916
|
|
NM_000558.5(HBA1):c.223GAC[1] (p.Asp76del)
|
rs759750475
|
|
NM_000558.5(HBA1):c.256G>C (p.Asp86His)
|
rs33915947
|
|
NM_000558.5(HBA1):c.326C>T (p.Thr109Ile)
|
|
|
NM_000558.5(HBA1):c.416C>G (p.Ser139Cys)
|
rs63749989
|
|
NM_000619.3(IFNG):c.409A>G (p.Ile137Val)
|
rs750527782
|
|
NM_000637.5(GSR):c.989T>C (p.Leu330Pro)
|
rs1563529139
|
|
NM_000651.6(CR1):c.6373G>T (p.Val2125Leu)
|
rs202148801
|
|
NM_000702.4(ATP1A2):c.350C>T (p.Ala117Val)
|
|
|
NM_000719.7(CACNA1C):c.3946-21_3946-19del
|
|
|
NM_000719.7(CACNA1C):c.5444+623G>A
|
rs750528395
|
|
NM_000808.4(GABRA3):c.926T>C (p.Val309Ala)
|
rs1937406658
|
|
NM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe)
|
|
|
NM_000867.5(HTR2B):c.463A>G (p.Ile155Val)
|
rs1559236184
|
|
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)
|
rs1562989913
|
|
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
|
|
|
NM_000942.5(PPIB):c.626A>G (p.Lys209Arg)
|
|
|
NM_001001415.4(ZNF429):c.952del (p.Cys318fs)
|
|
|
NM_001001991.3(PAMR1):c.1382G>A (p.Arg461His)
|
|
|
NM_001002909.4(GPATCH8):c.50A>G (p.Asn17Ser)
|
|
|
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu)
|
rs767226677
|
|
NM_001003800.2(BICD2):c.527G>A (p.Arg176His)
|
rs1207286970
|
|
NM_001003800.2(BICD2):c.754G>A (p.Glu252Lys)
|
rs776953074
|
|
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr)
|
rs2072020474
|
|
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu)
|
rs2072577212
|
|
NM_001006657.2(WDR35):c.1208T>C (p.Met403Thr)
|
|
|
NM_001006658.3(CR2):c.1187A>G (p.Gln396Arg)
|
rs1658223443
|
|
NM_001009944.3(PKD1):c.10165G>A (p.Glu3389Lys)
|
rs756738297
|
|
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro)
|
rs1567158067
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg)
|
rs1185676416
|
|
NM_001009944.3(PKD1):c.2780CGG[1] (p.Ala928del)
|
rs1596574952
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
NM_001009944.3(PKD1):c.2885A>G (p.Asp962Gly)
|
rs1567208045
|
|
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met)
|
rs749092859
|
|
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp)
|
rs1567201202
|
|
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn)
|
rs770968964
|
|
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)
|
rs1567218310
|
|
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu)
|
rs1567218284
|
|
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg)
|
rs1567191274
|
|
NM_001009944.3(PKD1):c.8828C>T (p.Ala2943Val)
|
rs1567175859
|
|
NM_001009997.3(C10orf62):c.297G>T (p.Lys99Asn)
|
|
|
NM_001010872.3(FAM83B):c.445-9A>G
|
|
|
NM_001014447.3(CPZ):c.949C>T (p.Gln317Ter)
|
rs146935182
|
|
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup)
|
rs781355841
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn)
|
rs1553458124
|
|
NM_001035.3(RYR2):c.4636C>T (p.Gln1546Ter)
|
|
|
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly)
|
rs1064794183
|
|
NM_001035.3(RYR2):c.815G>A (p.Arg272His)
|
rs377368967
|
|
NM_001037.5(SCN1B):c.215G>A (p.Arg72His)
|
rs770751961
|
|
NM_001040108.2(MLH3):c.3793A>G (p.Ile1265Val)
|
|
|
NM_001040108.2(MLH3):c.602T>G (p.Leu201Arg)
|
|
|
NM_001040151.2(SCN3B):c.568G>A (p.Ala190Thr)
|
rs1955750790
|
|
NM_001042492.3(NF1):c.-272G>A
|
rs1911510393
|
|
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)
|
rs1567843945
|
|
NM_001042492.3(NF1):c.16C>T (p.Pro6Ser)
|
rs1567786812
|
|
NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)
|
|
|
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)
|
|
|
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg)
|
rs1555614849
|
|
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
|
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)
|
rs2065795636
|
|
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
|
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys)
|
rs1227869359
|
|
NM_001042492.3(NF1):c.6029T>A (p.Val2010Glu)
|
rs2151553215
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.8114-3C>G
|
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001046.3(SLC12A2):c.672C>G (p.Ile224Met)
|
|
|
NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro)
|
rs143353451
|
|
NM_001065.4(TNFRSF1A):c.1246G>A (p.Ala416Thr)
|
|
|
NM_001072.4(UGT1A6):c.159del (p.His54fs)
|
rs1559345986
|
|
NM_001072.4(UGT1A6):c.557C>T (p.Pro186Leu)
|
rs751053554
|
|
NM_001072.4(UGT1A6):c.861+35946G>C
|
rs1234900374
|
|
NM_001077263.3(TMPRSS13):c.1274C>A (p.Thr425Asn)
|
rs757925255
|
|
NM_001077263.3(TMPRSS13):c.1403G>A (p.Arg468Gln)
|
rs200481694
|
|
NM_001079802.2(FKTN):c.326A>T (p.Asp109Val)
|
rs2132708033
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)
|
rs777131279
|
|
NM_001083899.2(GP6):c.505A>G (p.Thr169Ala)
|
rs777476310
|
|
NM_001099857.5(IKBKG):c.440C>T (p.Thr147Met)
|
rs1569556582
|
|
NM_001101421.4(MYO1H):c.1064_1065del (p.Ser355fs)
|
rs779383474
|
|
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val)
|
rs377650301
|
|
NM_001105556.3(THEMIS2):c.980G>A (p.Arg327Gln)
|
|
|
NM_001109754.4(PTPRB):c.5216T>C (p.Ile1739Thr)
|
rs2136300079
|
|
NM_001110556.2(FLNA):c.2092G>T (p.Asp698Tyr)
|
rs2067738279
|
|
NM_001110556.2(FLNA):c.2614G>T (p.Ala872Ser)
|
|
|
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
|
|
|
NM_001110556.2(FLNA):c.3223C>T (p.Pro1075Ser)
|
rs1336237133
|
|
NM_001110556.2(FLNA):c.373+811C>T
|
|
|
NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val)
|
rs2067686132
|
|
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
|
rs1569551874
|
|
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup)
|
rs781960834
|
|
NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln)
|
rs2067772868
|
|
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr)
|
rs1060500721
|
|
NM_001110556.2(FLNA):c.7900G>A (p.Asp2634Asn)
|
|
|
NM_001110556.2(FLNA):c.830C>T (p.Pro277Leu)
|
rs1557179540
|
|
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)
|
rs1057520310
|
|
NM_001110792.2(MECP2):c.413+6_413+9del
|
rs267608459
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
NM_001114753.3(ENG):c.-79C>T
|
rs1564466502
|
|
NM_001114753.3(ENG):c.1089T>G (p.Cys363Trp)
|
rs777177134
|
|
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn)
|
rs1085307431
|
|
NM_001122955.4(BSCL2):c.547G>A (p.Val183Met)
|
|
|
NM_001130021.3(ATP6V0A1):c.2112+16G>A
|
|
|
NM_001130823.3(DNMT1):c.950A>G (p.Glu317Gly)
|
rs1478185698
|
|
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)
|
|
|
NM_001142864.4(PIEZO1):c.120_125dup (p.Leu41_Pro42dup)
|
rs1906266156
|
|
NM_001142864.4(PIEZO1):c.1543G>A (p.Asp515Asn)
|
rs1041637926
|
|
NM_001142864.4(PIEZO1):c.1819C>T (p.Leu607Phe)
|
|
|
NM_001142864.4(PIEZO1):c.1877T>C (p.Leu626Pro)
|
|
|
NM_001142864.4(PIEZO1):c.2152G>A (p.Gly718Ser)
|
|
|
NM_001142864.4(PIEZO1):c.2156C>T (p.Thr719Met)
|
|
|
NM_001142864.4(PIEZO1):c.2164C>A (p.Pro722Thr)
|
rs1222441148
|
|
NM_001142864.4(PIEZO1):c.2415C>A (p.Phe805Leu)
|
|
|
NM_001142864.4(PIEZO1):c.2722C>T (p.Arg908Trp)
|
|
|
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met)
|
rs554899632
|
|
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)
|
rs765257824
|
|
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr)
|
rs770222800
|
|
NM_001142864.4(PIEZO1):c.2911A>G (p.Thr971Ala)
|
|
|
NM_001142864.4(PIEZO1):c.3016G>A (p.Val1006Met)
|
|
|
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
|
|
|
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
|
|
|
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp)
|
|
|
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn)
|
|
|
NM_001142864.4(PIEZO1):c.3796C>A (p.Pro1266Thr)
|
|
|
NM_001142864.4(PIEZO1):c.3983A>C (p.Tyr1328Ser)
|
|
|
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser)
|
|
|
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
|
|
|
NM_001142864.4(PIEZO1):c.5054C>T (p.Ala1685Val)
|
rs1008288721
|
|
NM_001142864.4(PIEZO1):c.5098A>G (p.Met1700Val)
|
|
|
NM_001142864.4(PIEZO1):c.5134G>C (p.Val1712Leu)
|
rs760732001
|
|
NM_001142864.4(PIEZO1):c.5243A>C (p.Gln1748Pro)
|
rs1597445087
|
|
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln)
|
rs749976222
|
|
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
|
|
|
NM_001142864.4(PIEZO1):c.5464G>C (p.Glu1822Gln)
|
rs762151744
|
|
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys)
|
|
|
NM_001142864.4(PIEZO1):c.5507C>A (p.Ala1836Asp)
|
rs2142764441
|
|
NM_001142864.4(PIEZO1):c.557C>G (p.Ala186Gly)
|
|
|
NM_001142864.4(PIEZO1):c.5833TTC[1] (p.Phe1946del)
|
rs1912355263
|
|
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
|
|
|
NM_001142864.4(PIEZO1):c.6007G>A (p.Ala2003Thr)
|
rs1912332137
|
|
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val)
|
|
|
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser)
|
|
|
NM_001142864.4(PIEZO1):c.6342C>G (p.Phe2114Leu)
|
|
|
NM_001142864.4(PIEZO1):c.6353T>A (p.Leu2118Gln)
|
|
|
NM_001142864.4(PIEZO1):c.6782G>C (p.Ser2261Thr)
|
rs1912065147
|
|
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)
|
rs546338962
|
|
NM_001142864.4(PIEZO1):c.6803C>T (p.Ala2268Val)
|
|
|
NM_001142864.4(PIEZO1):c.6926+5G>A
|
|
|
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
|
|
|
NM_001142864.4(PIEZO1):c.7151G>C (p.Gly2384Ala)
|
|
|
NM_001142864.4(PIEZO1):c.7366C>A (p.Arg2456Ser)
|
|
|
NM_001142864.4(PIEZO1):c.7431C>G (p.Ile2477Met)
|
rs772748505
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
NM_001142864.4(PIEZO1):c.7522C>A (p.Arg2508Ser)
|
|
|
NM_001142864.4(PIEZO1):c.910_912del (p.Leu304del)
|
rs753619127
|
|
NM_001142864.4(PIEZO1):c.920G>A (p.Gly307Asp)
|
|
|
NM_001145809.2(MYH14):c.6074C>T (p.Pro2025Leu)
|
rs772690371
|
|
NM_001148.6(ANK2):c.11774A>C (p.Gln3925Pro)
|
rs2154074804
|
|
NM_001148.6(ANK2):c.1898T>C (p.Leu633Ser)
|
|
|
NM_001155.5(ANXA6):c.1912C>T (p.Arg638Trp)
|
|
|
NM_001166114.2(PNPLA6):c.124C>T (p.Pro42Ser)
|
rs2022842151
|
|
NM_001178015.2(SLC4A10):c.658C>T (p.Gln220Ter)
|
|
|
NM_001184.4(ATR):c.2009G>A (p.Ser670Asn)
|
|
|
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp)
|
rs1388811021
|
|
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2584A>G (p.Ser862Gly)
|
|
|
NM_001199397.3(NEK1):c.3422T>C (p.Met1141Thr)
|
rs906114639
|
|
NM_001204.7(BMPR2):c.1379C>G (p.Pro460Arg)
|
rs1574500050
|
|
NM_001204.7(BMPR2):c.1535A>G (p.Lys512Arg)
|
rs1085307364
|
|
NM_001204.7(BMPR2):c.1981G>C (p.Glu661Gln)
|
|
|
NM_001204.7(BMPR2):c.199T>C (p.Tyr67His)
|
rs1559046623
|
|
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg)
|
rs1574486033
|
|
NM_001235.5(SERPINH1):c.658G>A (p.Asp220Asn)
|
rs1942139677
|
|
NM_001243133.2(NLRP3):c.1535G>A (p.Cys512Tyr)
|
|
|
NM_001243133.2(NLRP3):c.424G>A (p.Val142Met)
|
|
|
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met)
|
rs76291085
|
|
NM_001256012.3(MYH10):c.5872C>T (p.Arg1958Trp)
|
rs763121137
|
|
NM_001256732.3(SSBP2):c.971G>C (p.Ser324Thr)
|
rs1762742193
|
|
NM_001267550.2(TTN):c.10391A>C (p.Lys3464Thr)
|
rs1553970272
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)
|
rs555476312
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.15121A>G (p.Ile5041Val)
|
|
|
NM_001267550.2(TTN):c.19663G>T (p.Val6555Leu)
|
rs753901455
|
|
NM_001267550.2(TTN):c.19667C>T (p.Ser6556Leu)
|
rs2154306280
|
|
NM_001267550.2(TTN):c.20402T>A (p.Leu6801His)
|
|
|
NM_001267550.2(TTN):c.21017G>A (p.Arg7006Lys)
|
|
|
NM_001267550.2(TTN):c.23147G>A (p.Gly7716Asp)
|
|
|
NM_001267550.2(TTN):c.23675T>G (p.Ile7892Arg)
|
|
|
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp)
|
rs1553860465
|
|
NM_001267550.2(TTN):c.32136T>G (p.Phe10712Leu)
|
rs1560398106
|
|
NM_001267550.2(TTN):c.32191C>A (p.His10731Asn)
|
|
|
NM_001267550.2(TTN):c.32335G>T (p.Val10779Phe)
|
|
|
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)
|
rs199868380
|
|
NM_001267550.2(TTN):c.38884G>T (p.Ala12962Ser)
|
|
|
NM_001267550.2(TTN):c.39056C>A (p.Pro13019Gln)
|
rs763845436
|
|
NM_001267550.2(TTN):c.39834del (p.Lys13279fs)
|
rs886044415
|
|
NM_001267550.2(TTN):c.42950G>A (p.Arg14317Gln)
|
rs727505144
|
|
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu)
|
rs769784536
|
|
NM_001267550.2(TTN):c.51018T>A (p.Asp17006Glu)
|
rs1163818093
|
|
NM_001267550.2(TTN):c.52425T>G (p.Asp17475Glu)
|
|
|
NM_001267550.2(TTN):c.54283A>T (p.Ser18095Cys)
|
rs371747177
|
|
NM_001267550.2(TTN):c.5884C>A (p.Gln1962Lys)
|
|
|
NM_001267550.2(TTN):c.59225A>G (p.Tyr19742Cys)
|
rs1559607092
|
|
NM_001267550.2(TTN):c.59811C>A (p.Phe19937Leu)
|
rs781544233
|
|
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe)
|
rs1553645773
|
|
NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)
|
|
|
NM_001267550.2(TTN):c.65010A>T (p.Lys21670Asn)
|
rs878892116
|
|
NM_001267550.2(TTN):c.65074A>G (p.Ile21692Val)
|
|
|
NM_001267550.2(TTN):c.66318C>G (p.Asn22106Lys)
|
rs771219209
|
|
NM_001267550.2(TTN):c.69220T>A (p.Ser23074Thr)
|
rs2154173545
|
|
NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile)
|
rs1055906361
|
|
NM_001267550.2(TTN):c.79273A>G (p.Lys26425Glu)
|
rs1706063163
|
|
NM_001267550.2(TTN):c.80273T>C (p.Met26758Thr)
|
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
NM_001267550.2(TTN):c.82895C>T (p.Thr27632Ile)
|
rs1229009880
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His)
|
rs1477861188
|
|
NM_001267550.2(TTN):c.86229G>C (p.Gln28743His)
|
|
|
NM_001267550.2(TTN):c.94505T>A (p.Met31502Lys)
|
|
|
NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser)
|
rs1696865626
|
|
NM_001267550.2(TTN):c.97739G>A (p.Arg32580Lys)
|
rs1427710348
|
|
NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp)
|
rs1659441464
|
|
NM_001282290.2(ARHGAP27):c.2233C>G (p.Arg745Gly)
|
rs766669825
|
|
NM_001282426.2(PIK3CG):c.1307G>A (p.Gly436Asp)
|
rs1790423394
|
|
NM_001282857.2(XRN1):c.4277T>C (p.Met1426Thr)
|
rs2107909544
|
|
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)
|
rs1987287426
|
|
NM_001291303.3(FAT4):c.10247G>C (p.Ser3416Thr)
|
|
|
NM_001291303.3(FAT4):c.4195C>A (p.Pro1399Thr)
|
rs1486226093
|
|
NM_001301043.2(CADM1):c.323A>C (p.Lys108Thr)
|
|
|
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
|
rs1602482166
|
|
NM_001303441.2(HEXIM2):c.80C>G (p.Pro27Arg)
|
rs773017611
|
|
NM_001304548.2(CFAP47):c.4694A>T (p.Asp1565Val)
|
rs1022592716
|
|
NM_001315532.2(PVALB):c.67G>A (p.Asp23Asn)
|
rs748683112
|
|
NM_001321120.2(TBX4):c.1213G>A (p.Val405Met)
|
|
|
NM_001330078.2(NRXN1):c.4265A>C (p.Glu1422Ala)
|
|
|
NM_001330640.2(DENND4C):c.5160+1G>A
|
|
|
NM_001355436.2(SPTB):c.1342-7G>A
|
rs2082754554
|
|
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln)
|
rs1452760098
|
|
NM_001355436.2(SPTB):c.1603C>A (p.Gln535Lys)
|
|
|
NM_001355436.2(SPTB):c.1832G>A (p.Arg611His)
|
|
|
NM_001355436.2(SPTB):c.2059C>T (p.Arg687Cys)
|
|
|
NM_001355436.2(SPTB):c.2165C>T (p.Ser722Leu)
|
|
|
NM_001355436.2(SPTB):c.2472G>C (p.Gln824His)
|
|
|
NM_001355436.2(SPTB):c.3649A>G (p.Met1217Val)
|
|
|
NM_001355436.2(SPTB):c.3836T>A (p.Phe1279Tyr)
|
|
|
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr)
|
rs2082930394
|
|
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp)
|
rs2082929857
|
|
NM_001355436.2(SPTB):c.443G>T (p.Gly148Val)
|
|
|
NM_001355436.2(SPTB):c.475-3C>G
|
rs1373470306
|
|
NM_001355436.2(SPTB):c.4934G>A (p.Ser1645Asn)
|
|
|
NM_001355436.2(SPTB):c.5185C>G (p.Arg1729Gly)
|
rs753928257
|
|
NM_001355436.2(SPTB):c.5275G>A (p.Asp1759Asn)
|
|
|
NM_001355436.2(SPTB):c.5506C>T (p.Arg1836Trp)
|
|
|
NM_001355436.2(SPTB):c.5708C>T (p.Ala1903Val)
|
|
|
NM_001355436.2(SPTB):c.5799-3C>A
|
rs757579872
|
|
NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys)
|
|
|
NM_001355436.2(SPTB):c.6724_6726dup (p.Ile2242_Cys2243insIle)
|
|
|
NM_001355436.2(SPTB):c.909G>A (p.Met303Ile)
|
|
|
NM_001360016.2(G6PD):c.1013C>T (p.Ala338Val)
|
rs2148329260
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)
|
rs1557229652
|
|
NM_001360016.2(G6PD):c.628A>G (p.Asn210Asp)
|
rs2148330535
|
|
NM_001360016.2(G6PD):c.686A>T (p.Asn229Ile)
|
|
|
NM_001360016.2(G6PD):c.833CCA[1] (p.Thr279del)
|
|
|
NM_001365088.1(SLC12A6):c.1159A>G (p.Ile387Val)
|
rs781345440
|
|
NM_001365536.1(SCN9A):c.3599T>A (p.Leu1200His)
|
rs1342493346
|
|
NM_001365951.3(KIF1B):c.2115+7148C>T
|
|
|
NM_001365951.3(KIF1B):c.4508A>T (p.His1503Leu)
|
rs1224742258
|
|
NM_001366145.2(TRPM3):c.2030A>G (p.Lys677Arg)
|
rs2133197034
|
|
NM_001366418.1(SETDB1):c.1832G>A (p.Arg611Gln)
|
|
|
NM_001367479.1(DNAH14):c.767+2T>C
|
|
|
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val)
|
rs1555980007
|
|
NM_001369775.2(KLK14):c.40+2T>C
|
|
|
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu)
|
rs1060499973
|
|
NM_001370466.1(NOD2):c.-8-2A>T
|
|
|
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu)
|
rs777949388
|
|
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs)
|
rs745991254
|
|
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe)
|
rs187264529
|
|
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
|
|
|
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.2702G>A (p.Ser901Asn)
|
rs772064514
|
|
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp)
|
rs1187029221
|
|
NM_001370466.1(NOD2):c.380A>C (p.Asp127Ala)
|
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001374838.1(FOXL3):c.397G>A (p.Gly133Ser)
|
rs2115225775
|
|
NM_001375524.1(TRRAP):c.10511C>T (p.Thr3504Met)
|
|
|
NM_001375524.1(TRRAP):c.5273C>T (p.Ala1758Val)
|
|
|
NM_001375808.2(LPIN2):c.1046C>G (p.Pro349Arg)
|
rs778825863
|
|
NM_001375808.2(LPIN2):c.1868C>T (p.Pro623Leu)
|
rs941401458
|
|
NM_001376.5(DYNC1H1):c.1573C>T (p.Leu525Phe)
|
|
|
NM_001376.5(DYNC1H1):c.4624A>G (p.Arg1542Gly)
|
rs1567006939
|
|
NM_001376.5(DYNC1H1):c.7270C>G (p.Gln2424Glu)
|
rs1283596757
|
|
NM_001376013.1(EPB41):c.1222G>A (p.Gly408Arg)
|
rs371379818
|
|
NM_001376571.1(MADD):c.1222A>C (p.Thr408Pro)
|
|
|
NM_001377.3(DYNC2H1):c.10157T>C (p.Ile3386Thr)
|
rs542490708
|
|
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly)
|
rs864622357
|
|
NM_001377229.1(DISP1):c.2719A>G (p.Ser907Gly)
|
rs934670686
|
|
NM_001377303.1(L3MBTL1):c.2222C>T (p.Ser741Leu)
|
|
|
NM_001378457.1(DMXL2):c.3170_3172del (p.Glu1057del)
|
|
|
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys)
|
rs1561605311
|
|
NM_001382430.1(AKT1):c.176-5C>A
|
rs377076374
|
|
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr)
|
rs1564625358
|
|
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr)
|
rs2076749331
|
|
NM_001393719.1(ATF7IP2):c.1812G>C (p.Lys604Asn)
|
rs763494002
|
|
NM_001394198.1(ZNF746):c.1720C>G (p.Arg574Gly)
|
|
|
NM_001395413.1(POR):c.115A>G (p.Thr39Ala)
|
rs1787574873
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001395413.1(POR):c.349T>C (p.Tyr117His)
|
rs1554557326
|
|
NM_001429.4(EP300):c.3355GAT[1] (p.Asp1120del)
|
|
|
NM_001429.4(EP300):c.6536T>C (p.Phe2179Ser)
|
|
|
NM_001457.4(FLNB):c.1748-6C>G
|
rs2097260334
|
|
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu)
|
rs769221710
|
|
NM_001498.4(GCLC):c.1111G>A (p.Val371Ile)
|
|
|
NM_001498.4(GCLC):c.1523C>T (p.Thr508Met)
|
|
|
NM_001498.4(GCLC):c.1787A>C (p.Glu596Ala)
|
rs1327906483
|
|
NM_001498.4(GCLC):c.26C>G (p.Pro9Arg)
|
rs1427252491
|
|
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu)
|
rs115882953
|
|
NM_001605.3(AARS1):c.2177+5G>A
|
rs2152153454
|
|
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys)
|
rs146540551
|
|
NM_001613.4(ACTA2):c.170G>T (p.Gly57Val)
|
rs1564647168
|
|
NM_001613.4(ACTA2):c.569A>C (p.Tyr190Ser)
|
rs1564644429
|
|
NM_001614.5(ACTG1):c.259C>T (p.His87Tyr)
|
rs1568062594
|
|
NM_001711.6(BGN):c.572G>A (p.Gly191Asp)
|
|
|
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)
|
rs1939615464
|
|
NM_001844.5(COL2A1):c.1423C>T (p.Pro475Ser)
|
|
|
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His)
|
rs142168567
|
|
NM_001848.3(COL6A1):c.165C>G (p.Tyr55Ter)
|
rs762839635
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.488+6T>C
|
|
|
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile)
|
rs1432015707
|
|
NM_001910.4(CTSE):c.1027G>C (p.Asp343His)
|
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
|
NM_001939.3(DRP2):c.2422T>G (p.Trp808Gly)
|
rs745872373
|
|
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala)
|
rs1064795829
|
|
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr)
|
rs1005230453
|
|
NM_001972.4(ELANE):c.293T>G (p.Val98Gly)
|
|
|
NM_001972.4(ELANE):c.403G>A (p.Val135Met)
|
rs774457980
|
|
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys)
|
rs747053501
|
|
NM_001972.4(ELANE):c.558C>A (p.Val186=)
|
rs878855317
|
|
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg)
|
rs759733025
|
|
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
|
rs747084358
|
|
NM_001999.4(FBN2):c.2996G>A (p.Arg999His)
|
rs1342942240
|
|
NM_001999.4(FBN2):c.3236C>T (p.Ala1079Val)
|
rs1561781258
|
|
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)
|
rs773597432
|
|
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
|
|
|
NM_001999.4(FBN2):c.6868A>C (p.Lys2290Gln)
|
rs2126817406
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.879C>G (p.Ile293Met)
|
rs1180679857
|
|
NM_002047.4(GARS1):c.1780C>T (p.His594Tyr)
|
|
|
NM_002109.6(HARS1):c.743A>G (p.Glu248Gly)
|
rs1261330102
|
|
NM_002148.4(HOXD10):c.586C>A (p.Gln196Lys)
|
|
|
NM_002180.3(IGHMBP2):c.2440C>A (p.Gln814Lys)
|
rs1566447207
|
|
NM_002180.3(IGHMBP2):c.920A>G (p.Asn307Ser)
|
rs1470463698
|
|
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys)
|
rs782009178
|
|
NM_002296.4(LBR):c.113C>T (p.Thr38Ile)
|
rs555819295
|
|
NM_002335.4(LRP5):c.3322ACC[1] (p.Thr1109del)
|
|
|
NM_002335.4(LRP5):c.4636G>A (p.Asp1546Asn)
|
|
|
NM_002439.5(MSH3):c.1963A>G (p.Ile655Val)
|
|
|
NM_002439.5(MSH3):c.475A>G (p.Arg159Gly)
|
rs1749543623
|
|
NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr)
|
rs1561185945
|
|
NM_002471.4(MYH6):c.4360-7C>G
|
rs58949384
|
|
NM_002471.4(MYH6):c.736-9C>A
|
rs748594445
|
|
NM_002474.3(MYH11):c.2057G>C (p.Arg686Thr)
|
rs1567726588
|
|
NM_002474.3(MYH11):c.3805A>G (p.Ser1269Gly)
|
rs200012419
|
|
NM_002474.3(MYH11):c.3839A>G (p.Asp1280Gly)
|
|
|
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)
|
rs794728676
|
|
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)
|
rs760908992
|
|
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys)
|
rs201781110
|
|
NM_002485.5(NBN):c.607C>A (p.Pro203Thr)
|
rs1554564291
|
|
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn)
|
rs201174472
|
|
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu)
|
rs564528921
|
|
NM_002661.5(PLCG2):c.3571-3C>G
|
|
|
NM_002691.4(POLD1):c.1215C>G (p.Tyr405Ter)
|
rs1555790585
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp)
|
rs769328030
|
|
NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)
|
|
|
NM_002778.4(PSAP):c.707G>T (p.Gly236Val)
|
|
|
NM_002815.4(PSMD11):c.592A>G (p.Asn198Asp)
|
|
|
NM_002834.5(PTPN11):c.1402A>G (p.Thr468Ala)
|
rs397507537
|
|
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
|
|
|
NM_002838.5(PTPRC):c.3465A>C (p.Glu1155Asp)
|
rs1558041011
|
|
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn)
|
rs201715157
|
|
NM_002880.4(RAF1):c.1897G>A (p.Asp633Asn)
|
rs1352545039
|
|
NM_002881.3(RALB):c.7G>A (p.Ala3Thr)
|
rs1689908101
|
|
NM_002890.3(RASA1):c.1934+4A>G
|
rs2112485058
|
|
NM_002907.4(RECQL):c.1667_1667+3del
|
rs564485792
|
|
NM_002972.4(SBF1):c.4462C>T (p.His1488Tyr)
|
rs1569510303
|
|
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)
|
rs199754684
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003040.4(SLC4A2):c.3632G>A (p.Arg1211Gln)
|
|
|
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg)
|
rs1057518364
|
|
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys)
|
rs898406635
|
|
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)
|
rs761868468
|
|
NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg)
|
rs766046816
|
|
NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys)
|
|
|
NM_003126.4(SPTA1):c.131A>G (p.Glu44Gly)
|
|
|
NM_003126.4(SPTA1):c.1350+4A>C
|
|
|
NM_003126.4(SPTA1):c.1552C>T (p.His518Tyr)
|
|
|
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr)
|
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1957T>C (p.Tyr653His)
|
|
|
NM_003126.4(SPTA1):c.2134T>G (p.Ser712Ala)
|
|
|
NM_003126.4(SPTA1):c.216A>G (p.Lys72=)
|
rs1655075582
|
|
NM_003126.4(SPTA1):c.25G>C (p.Val9Leu)
|
rs111321033
|
|
NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
|
|
|
NM_003126.4(SPTA1):c.376C>T (p.His126Tyr)
|
|
|
NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg)
|
rs1469105508
|
|
NM_003126.4(SPTA1):c.3896G>A (p.Arg1299Lys)
|
|
|
NM_003126.4(SPTA1):c.390+4T>C
|
|
|
NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys)
|
rs1651939630
|
|
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
|
|
|
NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)
|
|
|
NM_003126.4(SPTA1):c.438G>C (p.Leu146=)
|
rs1280197961
|
|
NM_003126.4(SPTA1):c.459_460insATGCTGCGGGCCCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAG (p.Gln153_Leu154insMetLeuArgAlaLeuLeuLeuGluLeuThrLeuGluLysGlyAspGln)
|
rs2101946108
|
|
NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)
|
|
|
NM_003126.4(SPTA1):c.5834C>T (p.Ala1945Val)
|
|
|
NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=)
|
rs1650012277
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
|
|
|
NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe)
|
rs1649486162
|
|
NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys)
|
rs1557917325
|
|
NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu)
|
rs2101744936
|
|
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
|
|
|
NM_003126.4(SPTA1):c.883G>A (p.Asp295Asn)
|
rs1654495744
|
|
NM_003126.4(SPTA1):c.957G>A (p.Lys319=)
|
rs752690778
|
|
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
|
rs1248127840
|
|
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu)
|
rs1594792447
|
|
NM_003239.5(TGFB3):c.227C>T (p.Thr76Ile)
|
rs2140254321
|
|
NM_003242.6(TGFBR2):c.1270T>C (p.Tyr424His)
|
rs1559467821
|
|
NM_003244.4(TGIF1):c.125T>A (p.Leu42Gln)
|
rs1568053676
|
|
NM_003246.4(THBS1):c.542T>C (p.Val181Ala)
|
|
|
NM_003259.4(ICAM5):c.2198C>T (p.Thr733Met)
|
rs150873217
|
|
NM_003274.5(TRAPPC10):c.3670C>T (p.Pro1224Ser)
|
rs2039104204
|
|
NM_003322.6(TULP1):c.915G>A (p.Val305=)
|
rs1040415272
|
|
NM_003364.4(UPP1):c.641A>T (p.Tyr214Phe)
|
rs146983910
|
|
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del)
|
rs576788910
|
|
NM_003482.4(KMT2D):c.12463C>A (p.Pro4155Thr)
|
|
|
NM_003482.4(KMT2D):c.14732C>T (p.Pro4911Leu)
|
rs183347186
|
|
NM_003632.3(CNTNAP1):c.980T>A (p.Val327Glu)
|
|
|
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn)
|
rs1445493033
|
|
NM_003737.4(DCHS1):c.9506G>A (p.Trp3169Ter)
|
rs1855704818
|
|
NM_003753.4(EIF3D):c.1077-1G>C
|
|
|
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)
|
rs587778606
|
|
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu)
|
rs1338203882
|
|
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys)
|
rs377719165
|
|
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe)
|
rs2041037870
|
|
NM_004006.3(DMD):c.10258T>C (p.Ser3420Pro)
|
rs1569418231
|
|
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del)
|
rs751391426
|
|
NM_004006.3(DMD):c.10880T>A (p.Met3627Lys)
|
|
|
NM_004006.3(DMD):c.2176G>T (p.Val726Phe)
|
rs886044365
|
|
NM_004006.3(DMD):c.4321C>A (p.Leu1441Met)
|
rs2097990662
|
|
NM_004006.3(DMD):c.4519-10T>G
|
rs2097958853
|
|
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
|
|
|
NM_004006.3(DMD):c.891G>T (p.Lys297Asn)
|
rs1569467457
|
|
NM_004071.4(CLK1):c.379C>T (p.Arg127Cys)
|
rs2105741354
|
|
NM_004100.5(EYA4):c.1426G>T (p.Asp476Tyr)
|
rs1562505886
|
|
NM_004100.5(EYA4):c.529G>T (p.Val177Phe)
|
|
|
NM_004130.4(GYG1):c.674A>G (p.Asp225Gly)
|
|
|
NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala)
|
|
|
NM_004239.4(TRIP11):c.3817A>C (p.Ser1273Arg)
|
rs2140116644
|
|
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val)
|
rs542557164
|
|
NM_004314.3(ART1):c.655T>G (p.Phe219Val)
|
|
|
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)
|
rs587782494
|
|
NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala)
|
rs770830310
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile)
|
rs2149363695
|
|
NM_004415.4(DSP):c.1473C>T (p.Ser491=)
|
rs1561688471
|
|
NM_004415.4(DSP):c.620G>C (p.Trp207Ser)
|
rs1445705079
|
|
NM_004415.4(DSP):c.6419G>A (p.Ser2140Asn)
|
rs2113700320
|
|
NM_004444.5(EPHB4):c.2102T>C (p.Leu701Pro)
|
rs1812966939
|
|
NM_004444.5(EPHB4):c.2356T>C (p.Trp786Arg)
|
rs906578426
|
|
NM_004444.5(EPHB4):c.2635C>T (p.Arg879Trp)
|
rs2116413763
|
|
NM_004444.5(EPHB4):c.29C>A (p.Ala10Asp)
|
rs1429727921
|
|
NM_004444.5(EPHB4):c.755G>A (p.Gly252Asp)
|
|
|
NM_004444.5(EPHB4):c.96G>T (p.Trp32Cys)
|
rs1813316337
|
|
NM_004612.4(TGFBR1):c.11C>T (p.Ala4Val)
|
rs1331965992
|
|
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)
|
rs1171355842
|
|
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln)
|
rs147146713
|
|
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.589G>T (p.Val197Phe)
|
|
|
NM_004612.4(TGFBR1):c.935G>T (p.Gly312Val)
|
rs869025535
|
|
NM_004655.4(AXIN2):c.-12_8del (p.Met1fs)
|
rs768265778
|
|
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)
|
rs570443161
|
|
NM_004655.4(AXIN2):c.1952C>G (p.Ser651Trp)
|
rs74006838
|
|
NM_004990.4(MARS1):c.1968-1G>A
|
|
|
NM_004990.4(MARS1):c.664G>A (p.Glu222Lys)
|
|
|
NM_005188.4(CBL):c.2606A>G (p.Tyr869Cys)
|
|
|
NM_005219.5(DIAPH1):c.644A>G (p.His215Arg)
|
rs1064795909
|
|
NM_005251.3(FOXC2):c.889GTG[3] (p.Val298dup)
|
rs758855849
|
|
NM_005343.4(HRAS):c.214A>C (p.Met72Leu)
|
rs1564789500
|
|
NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser)
|
rs2144418704
|
|
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val)
|
rs1569228203
|
|
NM_005392.4(PHF2):c.2857_2858del (p.Lys953fs)
|
rs1252501615
|
|
NM_005393.3(PLXNB3):c.2507G>A (p.Ser836Asn)
|
|
|
NM_005475.3(SH2B3):c.1651C>T (p.Arg551Trp)
|
|
|
NM_005475.3(SH2B3):c.662G>T (p.Arg221Met)
|
|
|
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)
|
rs150666616
|
|
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
|
|
|
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)
|
rs143015575
|
|
NM_005529.7(HSPG2):c.12994G>T (p.Val4332Phe)
|
rs1138469
|
|
NM_005529.7(HSPG2):c.13094G>A (p.Arg4365Gln)
|
rs373773624
|
|
NM_005529.7(HSPG2):c.4184T>C (p.Phe1395Ser)
|
rs868076162
|
|
NM_005529.7(HSPG2):c.4980C>A (p.Asn1660Lys)
|
rs1327410425
|
|
NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu)
|
rs745892835
|
|
NM_005529.7(HSPG2):c.5878G>C (p.Val1960Leu)
|
rs543536558
|
|
NM_005529.7(HSPG2):c.6110G>T (p.Arg2037Leu)
|
rs760003870
|
|
NM_005548.3(KARS1):c.1078+7C>T
|
rs2151802184
|
|
NM_005751.5(AKAP9):c.8631T>G (p.Cys2877Trp)
|
rs1563113459
|
|
NM_005789.4(PSME3):c.406-2A>G
|
rs2055494187
|
|
NM_005883.3(APC2):c.966C>G (p.His322Gln)
|
|
|
NM_005938.4(FOXO4):c.385G>T (p.Glu129Ter)
|
rs749130867
|
|
NM_006005.3(WFS1):c.1558C>G (p.Gln520Glu)
|
rs377544135
|
|
NM_006005.3(WFS1):c.2207G>A (p.Gly736Asp)
|
rs71530912
|
|
NM_006070.6(TFG):c.566A>G (p.Asp189Gly)
|
rs749073068
|
|
NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly)
|
rs1802990111
|
|
NM_006158.5(NEFL):c.781A>G (p.Ile261Val)
|
rs746088359
|
|
NM_006182.4(DDR2):c.85A>C (p.Ile29Leu)
|
rs775988877
|
|
NM_006206.6(PDGFRA):c.1495G>T (p.Val499Leu)
|
rs746574289
|
|
NM_006206.6(PDGFRA):c.1848C>G (p.Ser616Arg)
|
rs780111998
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
NM_006231.4(POLE):c.467C>G (p.Ser156Cys)
|
rs1565979877
|
|
NM_006231.4(POLE):c.5176T>A (p.Cys1726Ser)
|
rs1593728320
|
|
NM_006231.4(POLE):c.749G>A (p.Gly250Glu)
|
rs2043078954
|
|
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly)
|
rs1564544146
|
|
NM_006363.6(SEC23B):c.2093T>A (p.Leu698Gln)
|
|
|
NM_006363.6(SEC23B):c.2214+72A>G
|
rs868711834
|
|
NM_006363.6(SEC23B):c.256A>G (p.Asn86Asp)
|
|
|
NM_006363.6(SEC23B):c.733CTT[1] (p.Leu246del)
|
|
|
NM_006363.6(SEC23B):c.800G>A (p.Gly267Asp)
|
rs754057624
|
|
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
|
NM_006363.6(SEC23B):c.938G>T (p.Arg313Leu)
|
|
|
NM_006371.5(CRTAP):c.733G>C (p.Ala245Pro)
|
rs145644749
|
|
NM_006441.4(MTHFS):c.35G>A (p.Ser12Asn)
|
|
|
NM_006506.5(RASA2):c.1891T>C (p.Phe631Leu)
|
rs2107776945
|
|
NM_006579.3(EBP):c.283G>A (p.Ala95Thr)
|
rs2147154752
|
|
NM_006587.4(CORIN):c.1033A>G (p.Thr345Ala)
|
rs1560502777
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006767.4(LZTR1):c.1807G>A (p.Val603Ile)
|
|
|
NM_006767.4(LZTR1):c.1838TGA[1] (p.Met614del)
|
rs1206305529
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_006922.4(SCN3A):c.4825A>G (p.Met1609Val)
|
rs1685094747
|
|
NM_007010.5(DDX52):c.1301_1302del (p.Ile433_Tyr434insTer)
|
rs2030086520
|
|
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu)
|
rs2132371597
|
|
NM_007183.4(PKP3):c.29C>T (p.Ala10Val)
|
|
|
NM_007183.4(PKP3):c.569G>A (p.Gly190Asp)
|
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val)
|
rs1060502717
|
|
NM_007272.3(CTRC):c.499G>A (p.Gly167Ser)
|
rs141205711
|
|
NM_007294.4(BRCA1):c.106T>A (p.Ser36Thr)
|
rs905812561
|
|
NM_007294.4(BRCA1):c.1309C>T (p.His437Tyr)
|
rs759878392
|
|
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val)
|
rs41286294
|
|
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val)
|
rs80356981
|
|
NM_007294.4(BRCA1):c.1764C>G (p.Ser588Arg)
|
rs1597874296
|
|
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe)
|
rs80357182
|
|
NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu)
|
rs80357415
|
|
NM_007294.4(BRCA1):c.2620A>C (p.Asn874His)
|
rs1064795862
|
|
NM_007294.4(BRCA1):c.2714A>G (p.Gln905Arg)
|
rs397507203
|
|
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)
|
rs80358333
|
|
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
NM_007294.4(BRCA1):c.341C>G (p.Ser114Cys)
|
rs786202620
|
|
NM_007294.4(BRCA1):c.3496G>C (p.Ala1166Pro)
|
rs745418679
|
|
NM_007294.4(BRCA1):c.3666G>C (p.Glu1222Asp)
|
rs1555587312
|
|
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)
|
rs80357217
|
|
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)
|
rs397509121
|
|
NM_007294.4(BRCA1):c.4079G>A (p.Ser1360Asn)
|
rs2154265376
|
|
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr)
|
rs80357473
|
|
NM_007294.4(BRCA1):c.4594G>A (p.Val1532Ile)
|
rs786201658
|
|
NM_007294.4(BRCA1):c.465A>C (p.Gln155His)
|
rs864622260
|
|
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del)
|
rs80359888
|
|
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys)
|
rs80357205
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)
|
rs80357442
|
|
NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu)
|
|
|
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser)
|
rs397507256
|
|
NM_007294.4(BRCA1):c.817C>T (p.Pro273Ser)
|
rs1597879824
|
|
NM_012073.5(CCT5):c.2T>G (p.Met1Arg)
|
rs1355388433
|
|
NM_012208.4(HARS2):c.838C>G (p.Leu280Val)
|
rs1439213535
|
|
NM_012294.5(RAPGEF5):c.2258G>A (p.Arg753Gln)
|
|
|
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr)
|
rs752572188
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)
|
rs917547961
|
|
NM_014249.4(NR2E3):c.458C>T (p.Ala153Val)
|
rs1048454126
|
|
NM_014629.4(ARHGEF10):c.831C>G (p.Asn277Lys)
|
rs756594069
|
|
NM_014800.11(ELMO1):c.376A>G (p.Ile126Val)
|
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe)
|
rs1639321356
|
|
NM_014920.5(CILK1):c.1058C>T (p.Ala353Val)
|
rs1764726771
|
|
NM_014931.4(PPP6R1):c.1008+4_1008+5del
|
rs1169569776
|
|
NM_015015.3(KDM4B):c.433-2A>G
|
rs2037064259
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del)
|
rs2131441680
|
|
NM_015046.7(SETX):c.4048A>G (p.Met1350Val)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
NM_015139.3(SLC35D1):c.398C>T (p.Pro133Leu)
|
rs1558168052
|
|
NM_015198.5(COBL):c.2440A>G (p.Ile814Val)
|
|
|
NM_015278.5(SASH1):c.2951C>T (p.Pro984Leu)
|
rs1430319963
|
|
NM_015340.4(LARS2):c.2506C>G (p.Pro836Ala)
|
|
|
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del)
|
rs757435431
|
|
NM_015512.5(DNAH1):c.7147G>T (p.Gly2383Cys)
|
|
|
NM_015559.3(SETBP1):c.2309C>G (p.Ala770Gly)
|
rs2071354469
|
|
NM_015559.3(SETBP1):c.2591C>T (p.Thr864Met)
|
|
|
NM_015683.2(ARRDC2):c.785G>A (p.Arg262Gln)
|
|
|
NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn)
|
rs776441162
|
|
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser)
|
rs1060501110
|
|
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)
|
rs775756069
|
|
NM_016207.4(CPSF3):c.1200G>C (p.Gln400His)
|
rs2124826854
|
|
NM_016213.5(TRIP4):c.143A>G (p.Tyr48Cys)
|
|
|
NM_016292.3(TRAP1):c.1512C>G (p.Asn504Lys)
|
rs2050773569
|
|
NM_017415.3(KLHL3):c.1114G>A (p.Asp372Asn)
|
rs1561586248
|
|
NM_017433.5(MYO3A):c.1534G>A (p.Glu512Lys)
|
rs1564535973
|
|
NM_017433.5(MYO3A):c.154C>G (p.Leu52Val)
|
rs1191024582
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017553.3(INO80):c.4162G>C (p.Ala1388Pro)
|
rs149995664
|
|
NM_017581.4(CHRNA9):c.413G>A (p.Arg138Gln)
|
rs533024809
|
|
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
|
rs750170645
|
|
NM_017617.5(NOTCH1):c.3510+17G>A
|
|
|
NM_017617.5(NOTCH1):c.6940C>G (p.Leu2314Val)
|
|
|
NM_017842.3(SLC48A1):c.43T>C (p.Ser15Pro)
|
|
|
NM_017848.6(FAM120C):c.2850A>G (p.Pro950=)
|
rs2146556315
|
|
NM_018018.5(SLC38A4):c.26T>C (p.Val9Ala)
|
|
|
NM_018082.6(POLR3B):c.2158G>A (p.Val720Ile)
|
|
|
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs)
|
rs775980459
|
|
NM_018143.3(KLHL11):c.1976T>C (p.Val659Ala)
|
|
|
NM_018341.3(ERMARD):c.960+2T>G
|
rs1390061280
|
|
NM_018453.4(EAPP):c.130C>T (p.Leu44Phe)
|
rs1880468284
|
|
NM_018557.3(LRP1B):c.9955G>A (p.Ala3319Thr)
|
rs768863268
|
|
NM_018706.7(DHTKD1):c.2374A>G (p.Ile792Val)
|
|
|
NM_018706.7(DHTKD1):c.2573-13T>G
|
rs2131630525
|
|
NM_018706.7(DHTKD1):c.2612C>T (p.Pro871Leu)
|
|
|
NM_018706.7(DHTKD1):c.2659-3_2659-2del
|
rs761529786
|
|
NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr)
|
|
|
NM_019076.5(UGT1A8):c.1502T>A (p.Phe501Tyr)
|
|
|
NM_019076.5(UGT1A8):c.855+63716A>G
|
|
|
NM_019076.5(UGT1A8):c.855+64228A>G
|
|
|
NM_020134.4(DPYSL5):c.1669G>A (p.Gly557Arg)
|
rs755205638
|
|
NM_020297.4(ABCC9):c.1616C>G (p.Ser539Cys)
|
rs1565470260
|
|
NM_020297.4(ABCC9):c.2848A>T (p.Met950Leu)
|
rs1448325219
|
|
NM_020351.4(COL8A1):c.673C>G (p.Arg225Gly)
|
rs980591241
|
|
NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu)
|
|
|
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr)
|
rs565574386
|
|
NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg)
|
rs746661057
|
|
NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala)
|
rs1212737816
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=)
|
rs1365704916
|
|
NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del)
|
rs1557744230
|
|
NM_020759.3(STARD9):c.6955C>T (p.Arg2319Trp)
|
|
|
NM_020759.3(STARD9):c.986G>A (p.Arg329Gln)
|
|
|
NM_020765.3(UBR4):c.11615G>C (p.Cys3872Ser)
|
rs2080036553
|
|
NM_020800.3(IFT80):c.1991A>G (p.His664Arg)
|
rs1559914730
|
|
NM_020884.7(MYH7B):c.2957C>T (p.Thr986Met)
|
rs780035845
|
|
NM_020975.6(RET):c.1731C>G (p.Asp577Glu)
|
rs1554818709
|
|
NM_020975.6(RET):c.1765A>T (p.Ser589Cys)
|
rs786202597
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
NM_020975.6(RET):c.2648C>A (p.Ala883Asp)
|
rs1293645997
|
|
NM_020981.4(B3GALT1):c.857A>G (p.Asn286Ser)
|
rs1690308848
|
|
NM_021259.3(PGAP6):c.1139C>T (p.Ser380Leu)
|
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser)
|
rs998369017
|
|
NM_021939.4(FKBP10):c.1207C>G (p.Arg403Gly)
|
rs372896892
|
|
NM_021939.4(FKBP10):c.1373C>T (p.Pro458Leu)
|
|
|
NM_021939.4(FKBP10):c.1582G>T (p.Ala528Ser)
|
rs1255679632
|
|
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)
|
rs876657756
|
|
NM_022124.6(CDH23):c.9247T>A (p.Phe3083Ile)
|
rs1564807861
|
|
NM_022489.4(INF2):c.2281A>T (p.Ile761Phe)
|
rs2140682868
|
|
NM_022489.4(INF2):c.257G>T (p.Gly86Val)
|
rs1566777637
|
|
NM_022489.4(INF2):c.3541C>T (p.Pro1181Ser)
|
rs1890210513
|
|
NM_022894.4(PAPOLG):c.604G>A (p.Gly202Ser)
|
|
|
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)
|
rs758138124
|
|
NM_024063.3(AFG2B):c.1976T>C (p.Leu659Pro)
|
|
|
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly)
|
rs768566143
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)
|
rs200048921
|
|
NM_024675.4(PALB2):c.2918C>T (p.Thr973Ile)
|
rs1465745143
|
|
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)
|
rs1308784980
|
|
NM_024712.5(ELMO3):c.481T>G (p.Trp161Gly)
|
|
|
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly)
|
rs1565777729
|
|
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val)
|
rs1307951215
|
|
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu)
|
rs769602871
|
|
NM_030625.3(TET1):c.3974T>A (p.Val1325Asp)
|
|
|
NM_030650.3(LNPK):c.682C>T (p.Pro228Ser)
|
|
|
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)
|
rs6094438
|
|
NM_031308.4(EPPK1):c.6634G>T (p.Glu2212Ter)
|
rs781922272
|
|
NM_031419.4(NFKBIZ):c.824G>C (p.Arg275Thr)
|
rs1312913255
|
|
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His)
|
rs587780826
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
NM_032119.4(ADGRV1):c.18674G>T (p.Ser6225Ile)
|
rs1796208718
|
|
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp)
|
rs377475657
|
|
NM_032167.5(SNX29):c.1363_1364del (p.Leu455fs)
|
rs2051719396
|
|
NM_032221.5(CHD6):c.3403C>T (p.Arg1135Cys)
|
rs1332592488
|
|
NM_032447.5(FBN3):c.7170T>A (p.Cys2390Ter)
|
rs768739224
|
|
NM_032578.4(MYPN):c.2537T>C (p.Met846Thr)
|
rs1261517918
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032735.3(BEST3):c.1052C>G (p.Ala351Gly)
|
|
|
NM_033036.3(GAL3ST3):c.1296A>G (p.Ter432Trp)
|
rs1856716057
|
|
NM_033337.3(CAV3):c.15G>C (p.Glu5Asp)
|
rs1559639840
|
|
NM_033518.4(SLC38A5):c.406G>A (p.Val136Ile)
|
rs2061475300
|
|
NM_052832.4(SLC26A7):c.299C>T (p.Ala100Val)
|
rs2130766054
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
NM_053025.4(MYLK):c.1173C>G (p.Ser391Arg)
|
rs375747284
|
|
NM_053025.4(MYLK):c.124C>T (p.Leu42Phe)
|
|
|
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala)
|
rs1052992526
|
|
NM_053025.4(MYLK):c.3167A>G (p.Asp1056Gly)
|
rs1553803351
|
|
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs)
|
rs2108576783
|
|
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)
|
rs368390254
|
|
NM_053025.4(MYLK):c.4573G>A (p.Val1525Met)
|
|
|
NM_053025.4(MYLK):c.5392G>A (p.Glu1798Lys)
|
rs777616795
|
|
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr)
|
rs1302244958
|
|
NM_053025.4(MYLK):c.848C>G (p.Ser283Trp)
|
|
|
NM_053042.3(ZNF518B):c.1676T>C (p.Val559Ala)
|
|
|
NM_080823.4(SRMS):c.921G>C (p.Lys307Asn)
|
rs34412104
|
|
NM_080873.3(ASB11):c.306C>G (p.Leu102=)
|
rs1920980264
|
|
NM_130839.5(UBE3A):c.767C>A (p.Ala256Glu)
|
rs1566960274
|
|
NM_133259.4(LRPPRC):c.-4A>G
|
rs1559083136
|
|
NM_133369.3(UNC5A):c.869G>C (p.Ser290Thr)
|
rs1758083899
|
|
NM_133379.5(TTN):c.11323G>A (p.Ala3775Thr)
|
|
|
NM_138420.4(AHNAK2):c.299G>A (p.Arg100Lys)
|
rs1898981140
|
|
NM_138477.4(CDAN1):c.1003C>T (p.Arg335Trp)
|
rs751595854
|
|
NM_144573.4(NEXN):c.1522A>T (p.Thr508Ser)
|
|
|
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del)
|
rs397517848
|
|
NM_144997.7(FLCN):c.1697T>C (p.Met566Thr)
|
rs756302545
|
|
NM_144997.7(FLCN):c.594_596del (p.Asp198del)
|
rs1567819459
|
|
NM_144997.7(FLCN):c.871+22C>T
|
|
|
NM_145201.6(NAPRT):c.413T>A (p.Leu138Gln)
|
rs1824573287
|
|
NM_145691.4(ATPAF2):c.402_404del (p.Phe134del)
|
rs765826427
|
|
NM_145691.4(ATPAF2):c.680G>A (p.Arg227His)
|
rs148095363
|
|
NM_147127.5(EVC2):c.1470G>A (p.Arg490=)
|
|
|
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His)
|
rs779684008
|
|
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del)
|
rs752839237
|
|
NM_152522.7(ARL6IP6):c.341C>T (p.Ser114Leu)
|
rs1699498035
|
|
NM_152624.6(DCP2):c.88_89del (p.Asp30fs)
|
rs1748258825
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.2695C>G (p.Arg899Gly)
|
rs757572697
|
|
NM_153700.2(STRC):c.274C>T (p.Arg92Trp)
|
rs1484849703
|
|
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
|
rs115507440
|
|
NM_153809.2(TAF1L):c.3797C>G (p.Pro1266Arg)
|
|
|
NM_170707.4(LMNA):c.964G>A (p.Asp322Asn)
|
rs1651541047
|
|
NM_172201.2(KCNE2):c.197C>T (p.Ala66Val)
|
rs16991656
|
|
NM_173477.5(USH1G):c.511G>A (p.Glu171Lys)
|
rs201866631
|
|
NM_174878.3(CLRN1):c.43G>A (p.Val15Met)
|
rs1559996357
|
|
NM_175914.5(HNF4A):c.671-10A>G
|
rs2146444875
|
|
NM_177438.3(DICER1):c.3260C>T (p.Ala1087Val)
|
rs180918578
|
|
NM_178335.3(CCDC50):c.1291C>A (p.Pro431Thr)
|
rs139060348
|
|
NM_178505.8(TMEM26):c.229G>A (p.Val77Ile)
|
rs201641949
|
|
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met)
|
rs1747782919
|
|
NM_181882.3(PRX):c.2230G>A (p.Glu744Lys)
|
rs2145728884
|
|
NM_181882.3(PRX):c.381+41G>A
|
|
|
NM_181882.3(PRX):c.7G>A (p.Ala3Thr)
|
|
|
NM_182925.5(FLT4):c.3436C>G (p.Arg1146Gly)
|
rs774089319
|
|
NM_182932.3(SLC8A3):c.2389+6A>G
|
rs2139694742
|
|
NM_182961.4(SYNE1):c.5269A>G (p.Ile1757Val)
|
rs1196594228
|
|
NM_194248.3(OTOF):c.2632G>A (p.Glu878Lys)
|
rs1172733523
|
|
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp)
|
rs772312557
|
|
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp)
|
rs142748621
|
|
NM_198060.4(NRAP):c.3889C>G (p.Arg1297Gly)
|
rs767886812
|
|
NM_198681.4(PLEKHG5):c.-120C>T
|
rs201669114
|
|
NM_198999.3(SLC26A5):c.13G>C (p.Glu5Gln)
|
rs750489794
|
|
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)
|
rs751691851
|
|
NM_201253.3(CRB1):c.2486T>A (p.Val829Asp)
|
rs1664670946
|
|
NM_201596.3(CACNB2):c.928C>G (p.His310Asp)
|
rs1564644251
|
|
NM_203299.4(SPATA31G1):c.2836G>C (p.Glu946Gln)
|
rs780819630
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.12122T>C (p.Ile4041Thr)
|
rs1558051246
|
|
NM_206933.4(USH2A):c.5698T>C (p.Cys1900Arg)
|
rs201026468
|
|
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
|
rs374146074
|
|
NM_206933.4(USH2A):c.9187A>G (p.Lys3063Glu)
|
rs1663780024
|
|
NM_207122.2(EXT2):c.2084G>A (p.Arg695Gln)
|
rs1956071680
|
|
NM_213599.3(ANO5):c.2739_2740del (p.Ter914IleextTer?)
|
rs746934922
|
|
NR_102687.2(DHRS4L1):n.426C>A
|
rs2035511055
|
|
m.12811T>C
|
rs199974018
|
|
m.4295A>G
|
rs121434467
|
|
m.5814T>C
|
rs200077222
|
|
m.9804G>A
|
rs200613617
|
|